ALPORT (COL4A5) Database

  • Reference sequences were NC_000023.9 and NM_000495.3. cDNA number 1 is the "A" of the start codon.
  • Frameshift is documented by the original amino acid followed by the codon number and "fs" (ex. Leu159 fs).
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807 variants found

Genomic Position Location ▾ Mutation Type Original cDNA Report Nucleotide Change Protein Change Classification References Comments
Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Uliana (2011)
Alport syndrome. Deletion of about 195kb includes deletion of exons 1-3 Col4A6 associated to Leimomyomatosis. Deletion characterised by MLPA and Array-CGH
Exon 01-36 Large Deletion never used c.1-?_3246+?del p.? Pathogenic Uliana (2011)
Alport syndrome. Deletion of about 315kb includes deletion of exons 1-2 Col4A6 associated to Leimomyomatosis. Deletion characterised by MLPA and Array-CGH
Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Uliana (2011)
Alport syndrome. Deletion includes deletion of exons 1-3 Col4A6 associated to Leimomyomatosis. Deletion characterised by MLPA and Array-CGH. Mild nephropathy in male proband
Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. del15-19kb includes deletion of exons 1-2 Col4A6 associated to Leimomyomatosis
Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
Alport syndrome.De novo mutation Del420kb. includes deletion of exon1-4 Col4A6 associated to Leimomyomatosis
Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. del exon 1.
Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. del190kb includes deletion of exons 1-2 Col4A6 associated to Leimomyomatosis
Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. Del1<10kb includes deletion of exons 1-2 Col4A6 associated to Leimomyomatosis
Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. del120kb includes deletion of exons 1-2 Col4A6 associated to Leimomyomatosis
Exon 01 Missense 203A>G c.1A>G p.? Pathogenic Lemmink (1997)
Alport syndrome
Exon 01-04 Large Deletion never used c.1-?_276+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. Del75kb. Includes deletion of exons 1-2 Col4A6 associated to Leimomyomatosis
Exon 01-18 Large Deletion never used c.1-?_1032+?del p.? Pathogenic Hertz (2008)
Alport Syndrome. includes deletion of exons 1-2 Col4A6 associated to Leimomyomatosis
Exon 01-18 Large Deletion never used c.1-?_1032+?del p.? Pathogenic Lemmink (1997)
Alport syndrome.De novo mutation Del210kb. includes deletion of exon1-2 Col4A6 associated to Leimomyomatosis
Exon 01-30 Large Deletion never used c.1-?_2509+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. Del330kb. includes deletion of exon1-3 Col4A6 associated to Leimomyomatosis
Exon 01-30 Large Deletion never used c.1-?_2509+?del p.? Pathogenic Plant (1999)
Alport syndrome. Exact size of deletion unknown.
Exon 01-32 Large Deletion never used c.1-?_2767+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. Del210kb. De novo mutation. includes deletion of exon1-2 Col4A6 associated to Leimomyomatosis
Exon 01-32 Large Deletion never used c.1-?_2767+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. Del290kb. includes deletion of exon1-2 Col4A6 associated to Leimomyomatosis
Exon 01-51 Large Deletion never used c.1-?_5058+?del Deletion of
entire gene
Pathogenic Barker (2001)
Alport Syndrome. Includes deletion of exons 1-2 Col4A6 associated to Leimomyomatosis.
Exon 01-51 Large Deletion never used c.1-?_5058+?del Deletion of
entire gene
Pathogenic Nozu (2008)
Alport Syndrome. Deletion of entire gene.
Exon 01-51 Large Deletion never used c.1-?_5058+?del Deletion of
entire gene
Pathogenic Hoischen (2009)
Alport syndrome. 3.3 MB deletion including COL4A5 gene. Found by array CGH in patient with unclear syndromic nephropathy. Accompanied by mental retardation.
Exon 01 Deletion 204_205delTG c.2_3del p.Met1fs Pathogenic King (2006)
Alport syndrome. Frameshift and initiator codon disrupted
Exon 01 Nonsense 215G>T c.13G>T p.Gly5X Pathogenic Cruz-Robles (1999)
Alport Syndrome Absence of alpha 5 chain
Exon 01 Insertion never used c.38_41dup p.Leu14fs Pathogenic Hertz (2008)
Alport syndrome (detectable by MLPA)
Exon 01 Deletion never used c.49_50del p.Leu17fs Pathogenic Ellison (2009)
Reported in a female with asymptomatic hematuria and proteinuria.
Exon 01 Deletion c.267_279del13 c.65_77del p.Gln22fs Pathogenic Bekheirnia (2010)
Alport syndrome
Intron 01 Splice Site c.283+1G>C c.81+1G>C p.? Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 02-36 Large Duplication never used c.82-27.699_3246
+16.073dup
p.Ala28_Lys1082dup Pathogenic Arrondel (2004)
Alport syndrome. Around 130kb duplication from intron 1 to intron 36. In frame. Interrupt GXY collagenous domain and adds 1054 amino acid. Mutation found in French Polynesia
Exon 02-08 Large Deletion never used c.82-?_465+?del p.? Pathogenic Martin (1998)
Exons 2-8could not be amplified
Exon 02-19 Large Deletion never used c.82-?_1165+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. Deletion exon 2 to 19. truncated protein due to frameshift
Exon 02-36 Large Deletion never used c.82-?_3246+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. Deletion exon 2 to 36. truncated protein due to frameshift
Exon 02-37 Large Deletion never used c.82-?_3373+?del p.? Pathogenic King(2006)
Alport syndrome. Deletion exon 2 to 37.
Exon 02-51 Large Deletion never used c.82-?_5058+?del p.? Pathogenic Plant (1999)
Alport syndrome Del ~300 kb
Exon 02-51 Large Deletion never used c.82-?_5058+?del p.? Pathogenic Plant (1999)
Alport syndrome Del >500 kb
Exon 02 Large Deletion c.284-?_343+?del c.82-?_141+?del p.? Pathogenic Bekheirnia (2010)
Alport syndrome. Deletion exon2. Reported as c.284-?_344+?del
Exon 02 Nonsense never used c.87C>A p.Cys29X Pathogenic Savige (2008)
Alport syndrome
Exon 02 Nonsense 292T>G c.90T>G p.Tyr30X Pathogenic Martin (2000)
Alport syndrome truncated protein
Exon 02 Deletion never used c.119del p.Cys40fs Pathogenic Tazon-Vega (2007)
Alport syndrome
Intron 02 Splice Site 344-1G>A c.142-1G>A p.? Pathogenic Plant (1999)
Alport syndrome
Exon 03-37 Large Deletion never used c.142-?_3373+?del p.? Pathogenic Barker (2001)
Deletion exon 3 to 37
Exon 03-31 Large Deletion c.344-?_2879+?del c.142-?_2677+?del p.? Pathogenic Bekheirnia (2010)
Alport syndrome. Deletion exons 3-31
Exon 03 Missense never used c.142G>A p.Gly48Arg Pathogenic Tan (2010)
Alport syndrome. ESRD after 30
Exon 03 Insertion c.353insA355insT c.151_152insA
+156dup
p.Gly51fs Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 03 Large Deletion c.344-?_433+?del c.142-?_231+?del p.? Pathogenic Bekheirnia (2010)
Alport syndrome. Deletion exon3 Reported as c.343-?_344+?del
Exon 03 Missense 363G>A c.161G>A p.Gly54Asp Pathogenic Turco (1995)
Affected individual Later onset (microhematruria at 22). Originally reported as 362G>A Age at ESRD 40. Reported also in Renieri 1995
Intron 03 Splice Site 433+1G>A c.231+1G>A p.? Pathogenic Barker (2001)
Alport Syndrome
Intron 03 Splice Site 434-1G>T c.232-1G>T p.? Pathogenic Barker (2001)
Alport Syndrome
Intron 03 Splice Site c.434-1G>T c.232-1G>A p.? Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 04/05-26 Large Deletion never used c.232-?_2041+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. truncated protein. del4/5-26
Exon 04-13 Large Deletion never used c.232-?_780+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. truncated protein. In frame
Exon 04-47 Large Deletion never used c.232-?_4510+?del p.? Pathogenic Lemmink (1997)
Alport syndrome
Exon 04 Deletion 452delG c.252del p.Pro85fs Pathogenic Plant (1999)
Alport syndrome.
Intron 04 Splice Site never used c.276+5G>A p.? Pathogenic Nagel (2005)
Alport syndrome. Mutations affecting the less conserved parts of the acceptor splice signal.
Intron 04 Splice Site 479-1G>T c.277-1G>T p.? Pathogenic Plant (1999)
Alport syndrome. Late onset Age at ESRD: 31
Exon 05-10 Large Deletion never used c.277-?_609+?del p.? Pathogenic Barker (1990)
Alport Syndrome
Exon 05 Missense never used c.286G>A p.Gly96Arg Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 05 Deletion 495delC c.293del p.Pro98fs Pathogenic Barker (2001)
Alport syndrome. Found in 2 famillies (Bekheirnia (2010)
Intron 05 Splice Site 524-1G>A c.322-1G>A p.? Pathogenic Plant (1999)
Alport syndrome
Exon 06 Deletion never used c.351_359del p.Pro118_Gly120del Pathogenic Savige (2008)
Alport Syndrome. Found late onset in Tang 2010
Exon 06 Deletion never used c.368del p.Gly123fs Pathogenic Nagel (2005)
Alport Syndrome. Truncated protein. Originally documented as c.367delG
Intron 06 Splice site c.384-+ 1873 G>A c.385-719G>A p.? Pathogenic King (2002)
Alport syndrome. This mutation creates a novel exon in intron 06 (cDNA evidence and cosegregation in family). Originally reported as c.384+1873G>A
Intron 06 Splice Site 587-1G>C c.385-1G>C p.? Pathogenic Hertz (2001)
Alport syndrome. Skips exon 7
Exon 07 Missense never used c.385G>A p.Gly129Arg Pathogenic Bekheirnia (2010)
Alport syndrome. Late onset ESRD at 38
Exon 07 Missense 588G>A c.386G>A p.Gly129Glu Pathogenic Lemmink (1997)
Alport syndrome
Exon 07 Missense 588G>T c.386G>T p.Gly129Val Pathogenic Lemmink (1997)
Alport syndrome. Possible splice site muation
Exon 07 Nonsense 590G>T c.388G>T p.Glu130X Pathogenic Plant (1999)
Alport syndrome
Exon 07 Missense 632G>A c.430G>A p.Gly144Ser Pathogenic Plant (1999)
Alport Syndrome. Originally reported as p.G114S c.632 G>A
Exon 07 Missense never used c.430G>C p.Gly144Arg Pathogenic Ma (2011)
Alport Syndrome-Late onset-ESRD at 31.
Exon 07 Missense never used c.431G>A p.Gly144Asp Pathogenic Bekheirnia (2010)
Alport syndrome
Intron 07 Splice Site never used c.438+2T>C p.? Pathogenic Ma (2011)
Alport syndrome- predicted to affect splicing using different software
Intron 07 Splice Site c.640+5G>A c.438+5G>A p.? Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 08 Deletion 642del G c.440del p.Gly147fs Pathogenic Inoue (1999)
Alport Syndrome. Truncated protein
Exon 08 Insertion never used c.446dup p.Gly150fs Pathogenic Nagel (2005)
Alport Syndrome. Truncated protein- originally reported as c.441_442insC
Exon 08 Deletion 648delC c.446del p.Pro149fs Pathogenic Martin (1998)
Alport syndrome. Truncated protein
Intron 08 Splice Site never used c.466-17T>G p.? Uncertain Nagel (2005)
In patient with Alport Syndrome.No RNA (cDNA) data. Mutations affecting the less conserved parts of the acceptor splice signal.
Intron 08 Splice Site 668-12G>A c.466-12G>A p.? Pathogenic Wang (2005)
Alport syndrome. Two type of aberrant mRNA: skipping of the upstream exon 9 and preserving exon 9 but inserting 10 bp of intron 8.
Intron 08 Splice Site 668-2A>G c.466-2A>G p.? Pathogenic Hertz (2001)
Alport syndrome. Skips exon 9
Exon 09 Deletion never used c.476del p.Gly159fs Pathogenic Ma (2011)
Alport syndrome
Exon 09 Missense 722G>C c.520G>C p.Gly174Arg Pathogenic Renieri (1996)
Alport syndrome. Interrupts continuous Gly-X-Y
Exon 09 Missense 731 G>T c.529G>T p.Gly177Cys Pathogenic Blasi (2000)
Alport syndrome accompanied with dot and fleck retinopathy
Exon 09 Missense 731G>C c.529G>C p.Gly177Arg Pathogenic Renieri (1996)
Alport syndrome. Late onset Age at ESRD 34 (M)-55 (F). Reported by others
Exon 09 Deletion 735delC c.533del p.Pro178fs Pathogenic Knebelmann (1996)
Alport syndrome; Protein Truncation.
Exon 09 Missense never used c.538G>A p.Gly180Arg Pathogenic Bekheirnia (2010)
Alport syndrome
Intron 09 Splice Site 746_748+4
delCAAgtaa
c.544_546+4
delCAAgtaa
p.? Pathogenic Bekheirnia (2010)
Alport syndrome
Intron 09 Splice Site 748+1G>AIVS9+1G>A c.546+1G>A p.? Pathogenic Knebelmann (1996)
Alport Syndrome; late onset mean age ESRD: 36 years. Originally Documented as 750+1G>A
Intron 09 Splice Site 748+3insT c.546+3_546+4insT p.? Pathogenic Knebelmann (1996)
Alport Syndrome; late onset mean age ESRD: 35 years Originally Documented as 750+3insT
Intron 09 Splice Site c.749-2A>G c.547-2A>G p.? Pathogenic Bekheirnia (2010)
Alport syndrome
Intron 09 Splice Site 749-1G>A c.547-1G>A p.? Pathogenic Hertz (2001)
Alport Syndrome
Exon 10 Missense never used c.548G>T p.Gly183Val Pathogenic Nagel (2005)
Alport Syndrome
Exon 10 Insertion 752_753insC c.550dup p.Leu184fs Pathogenic Martin (1998)
Alport syndrome. Truncated protein was reported as c.752insC in Martin (1998) and c.750insC in Hertz (2001)
Exon 10 Insertion never used c.573_574dup p.Gly192fs Pathogenic Ma (2011)
Alport syndrome
Exon 10 Missense 776G>A c.574G>A p.Gly192Arg Pathogenic Barker (2001)
Alport syndrome
Exon 10 Missense 786G>A c.584G>A p.Gly195Asp Pathogenic Hertz (2001)
Alport Syndrome
Exon 10 Missense 795G>A c.593G>A p.Gly198Glu Pathogenic Slajpah (2007)
Alport syndrome. Interrupts continuous Gly-X-Y
Exon 10 Missense 804G>T c.602G>T p.Gly201Val Moderate Hertz (2001)
Alport syndrome. Late onset Age at ESRD: in male 34 years
Intron 10 Splice Site 811+1G>A c.609+1G>A p.? Pathogenic Hertz (2001)
Alport Syndrome
Intron 10 Splice Site 811+21T>C c.609+21T>C p.? Benign Barker (2001)
In benign haplotype with c.2768-11A>G - Does not always segregate with disease
Intron 10 Splice Site never used c.610-2A>G p.? Pathogenic Tazon-Vega (2007)
Alport syndrome. 3' ss inactivated cryptic 3'ss used: deletion nucleotides 610-628 in exon 11; frameshift premature termination
Exon 11 Deletion 812_830del19 c.610_628del p.Gly204fs Pathogenic Inoue (1999)
Alport syndrome. Truncated protein
Exon 11 Missense 813G>A c.611G>A p.Gly204Asp Pathogenic Gross (2002)
Alport syndrome
Exon 11 Missense 813G>T c.611G>T p.Gly204Val Pathogenic Knebelmann (1996)
Alport syndrome
Exon 11 Deletion c.813_814delGC c.611_612del p.Gly204fs Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 11 Deletion 836delC c.634del p.Pro212fs Pathogenic Renieri (1996)
Alport syndrome; truncated protein Originally reported as 211fs
Exon 11 Missense 840G>A c.638G>A p.Gly213Glu Pathogenic King (2006)
Alport syndrome
Intron 11 Deletion never used c.646-12_646-11del p.Gly216_Lys229 Pathogenic Tazon-Vega (2007)
Alport syndrome. Weakend polypyrimidine tract; in frame deletion of exon 12
Intron 11 Splice Site 848-3C>A c.646-3C>A p.? Pathogenic Plant (1999)
Skips Exon 12 (in frame);documented as 849-3C>A or c.647-3C>A
Exon 12 Missense 848G>A c.646G>A p.Gly216Arg Pathogenic Martin (2000)
Alport syndrome
Exon 12 Missense never used c.647G>T p.Gly216Val Pathogenic Tazon-Vega (2007)
Alport syndrome
Exon 12 Insertion never used c.647_648dup p.Asn217fs Pathogenic Nagel (2005)
Alport Syndrome. Truncated protein
Exon 12 Insertion never used c.648dup p.Asn217fs Pathogenic Nagel (2005)
Alport Syndrome. Truncated protein. Originally documented as c.646_647insG
Exon 12 Missense 857G>A c.655G>A p.Gly219Ser Pathogenic Renieri (1996)
Alport syndrome. Interrupts continuous Gly-X-Y
Exon 12 Missense never used c.665T>G p.Phe222Cys Pathogenic Becknell (2011)
Associated to Glomerulopathy and ESRD (absence of clinical findings associated with Alport Syndrome). Mutation in non collagen interruption. Observed with signs of chronic thrombotic microangiopathy (Wuttke et al Clin Kidney J. 2015)
Exon 12 Nonsense never used c.682G>T p.Glu228X Pathogenic Demosthenous (2012)
Alport syndrome. Truncated protein
Intron 12 Splice Site 889+1G>A c.687+1G>A p.? Pathogenic Lemmink (1997)
affected individual. Classified as moderate in Pont-Kingdon et al 2009-ESRD at 33
Intron 12 Splice Site 890-3C>G c.688-3C>G p.? Pathogenic Knebelmann (1996)
Alport Syndrome
Exon 13 Missense 890G>C c.688G>C p.Gly230Arg Pathogenic Knebelmann (1996)
Alport syndrome
Exon 13 Deletion 891delG c.689del p.Gly230fs Pathogenic Knebelmann (1996)
Alport syndrome truncated protein
Exon 13 Missense never used c.689G>A p.Gly230Asp Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 13 Missense 918G>A c.716G>A p.Gly239Glu Pathogenic Knebelmann (1996)
Alport syndrome
Exon 13 Deletion 963_964delAG c.761_762del p.Glu254fs Pathogenic Kawai (1996)
Alport Syndrome Originally reported as 962/delAG truncated protein
Intron 13 Splice Site never used c.780+2T>G p.? Pathogenic Tazon-Vega (2007)
Alport syndrome. 5'ss inactivated (exon 13 skipped In frame)
Intron 13 Splice Site 983-1del7 c.781-1_786del p.? Pathogenic Kawai (1996)
Alport Syndrome late onset age at ESRD
Exon 14-51 Large Deletion never used c.781-?_5058+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. truncated protein
Exon 14-21 Large Deletion never used c.781-?_1423+?del p.? Pathogenic Bekheirnia (2010)
Alport syndrome. Deletion exons 14-21
Exon 14 Deletion never used c.788del p.Pro263fs Pathogenic Ma (2011)
Alport Syndrome
Exon 14 Missense 992G>C c.790G>C p.Gly264Arg Pathogenic Knebelmann (1996)
Alport syndrome late onset age at ESRD (48)
Exon 14 Missense never used c.791G>A p.Gly264Asp Pathogenic Nagel (2005)
Alport syndrome
Exon 14 Nonsense 998C>T c.796C>T p.Arg266X Pathogenic Wang (2005)
Alport syndrome; truncated protein. Reported in other studies
Exon 14 Deletion 1014delC c.812del p.Pro271fs Pathogenic Gross (2002)
Alport Syndrome frameshift
Intron 14 Splice Site 1036+1G>A c.834+1G>A p.? Pathogenic Knebelmann (1996)
Alport Syndrome; late onset mean age ESRD: 31.5 years
Intron 14 Splice Site 1036+5G>T c.834+5G>T p.? Pathogenic Wang (2005)
Alport syndrome del Exon 14
Exon 15 Nonsense 1061G>T c.859G>T p.Glu287X Pathogenic Lemmink (1997)
Allport syndrome
Exon 15 Nonsense 1068G>T c.866G>T p.Glu289Val Pathogenic Lemmink (1997)
Allport syndrome
Exon 15 Deletion c.1068delC c.866del p.Gly289fs Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 15 Deletion c.1075delA c.873del p.Gly292fs Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 15 Missense 1076G>C c.874G>C p.Gly292Arg Pathogenic Barker (2001)
Alport syndrome. Late onset age at ESRD (33 years old- Bekheirnia 2010)
Exon 15 Missense 1077G>T c.875G>T p.Gly292Val Pathogenic Lemmink (1997)
Alport syndrome
Exon 15 Deletion c.1077delG c.875del p.Gly292fs Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 15 Missense 1086G>A c.884G>A p.Gly295Asp Pathogenic Barker (2001)
Alport syndrome. Reported as late onset (ESRD at 49.5 years) in Pont-Kingdon et al 2009.
Intron 15 Splice Site 1093+1G>A c.891+1G>A p.? Pathogenic Knebelmann (1996)
Alport Syndrome
Intron 15 Splice Site 1094-2A>G c.892-2A>G p.? Pathogenic Lemmink (1997)
Alport Syndrome. Gross (2002) classified as Adult type.
Intron 15 Splice Site 1094-1G>C c.892-1G>C p.? Pathogenic Lemmink (1997)
Alport Syndrome
Exon 16 Missense 1094G>A c.892G>A p.Gly298Ser Pathogenic Knebelmann (1996)
Alport syndrome
Exon 16 Nonsense 1115G>T c.913G>T p.Glu305X Pathogenic Plant (1999)
Alport Syndrome. Protein truncation
Exon 16 Missense 1122G>A c.920G>A p.Gly307Asp Pathogenic Gross (2002)
Alport syndrome. Late onset (ESRD at 43 years)
Exon 16 Missense 1130G>A c.928G>A p.Gly310Arg Pathogenic Slajpah (2007)
Alport syndrome. Interrupts continuous Gly-X-Y
Intron 16 Splice Site never used c.937-1G>A p.? Pathogenic Nagel (2005)
Alport syndrome. Mutation in donor splice signal.
Exon 17 Large Deletion never used c.937-?_990+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. Protein truncated by 18 amino acids
Exon 17 Missense 1139G>A c.937G>A p.Gly313Ser Pathogenic King (2006)
Alport syndrome
Exon 17 Insertion 1147_1148insT c.945dup p.Gly316fs Pathogenic Martin (1998)
Alport syndrome. Truncated protein
Exon 17 Missense never used c.955G>C p.Gly319Arg Pathogenic Cheong (2000)
Alport syndrome. Interrupts continuous Gly-X-Y
Exon 17 Missense 1158G>A c.956G>A p.Gly319Asp Pathogenic Slajpah (2007)
Alport syndrome. Interrupts continuous Gly-X-Y
Exon 17 Nonsense never used c.960C>A p.Tyr320X Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 17 Silent 1172C>T c.970C>T p.= Benign Plant (1999)
Silent polymorphism
Exon 17 Missense 1175G>A c.973G>A p.Gly325Arg Pathogenic Barker (2001)
Alport syndrome. Found in conjunction with p.I703V mutation; Reported in several stuties Renieri reports as a late onset Age at ESRG >36)
Exon 17 Nonsense 1175G>T c.973G>T p.Gly325X Pathogenic Kawai (1996)
Alport Syndrome truncated protein
Exon 17 Missense 1176G>A c.974G>A p.Gly325Glu Pathogenic Renieri (1996)
Alport syndrome. De novo mutation. Interrupts continuous Gly-X-Y
Exon 18 Missense 1194G>T c.992G>T p.Gly331Val Pathogenic Plant (1999)
Alport syndrome
Exon 18 Missense never used c.1001G>T p.Gly334Val Pathogenic Hertz (2008)
Alport syndrome
Intron 18 Splice Site 1234+3delAAGT c.1032+3_1032+6
delAAGT
p.? Pathogenic Knebelmann (1996)
Alport Syndrome. Affects 5' splicing site of intron 18
Intron 18 Splice Site 1234+5G>T c.1032+5G>T p.? Pathogenic Slajpah (2007)
Alport syndrome. Late onset age at ESRD=36 yeas.
Intron 18 Splice Site 1235-15delT c.1033-15delT p.? Benign Barker (2001)
Found in an affected male with the G295D mutation. Never found in other cases- probably rare polymorphism T10>T9.
Exon 19-22 Large Deletion never used c.1033-?_1516+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. truncated protein
Exon 19 Insertion c.1262_1263insA c.1060dup p.Thr354fs Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 19 Insertion 1264_1265insT c.1062dup p.Ile355fs Pathogenic Barker (2001)
Alport Syndrome
Exon 19 Deletion 1276delA c.1074del p.Gly359fs Pathogenic Kawai (1996)
Alport syndrome Originally reported as 1274delA truncated protein
Exon 19 Missense never used c.1084G>A p.Gly362Arg Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 19 Missense 1296G>A c.1094G>A p.Gly365Glu Pathogenic Lemmink (1997)
Alport syndrome
Exon 19 Silent 1297G>C c.1095G>C p.= Benign Barker (2001)
In benign haplotype: G365G I444S L685L Q1171Q D1425D. Does not always segregate with disease
Exon 19 Missense 1314G>A c.1112G>A p.Gly371Glu Pathogenic Renieri (1996)
Alport syndrome. Interrupts continuous Gly-X-Y
Exon 19 Nonsense 1319C>T c.1117C>T p.Arg373X Pathogenic Renieri (1996)
Alport syndrome. Truncated protein. Observed in several families (Bekheirnia (2010))
Exon 19 Missense 1323G>C c.1121G>C p.Gly374Ala Pathogenic Renieri (1996)
Alport syndrome. Interrupts continuous Gly-X-Y
Exon 19 Nonsense never used c.1135C>T p.Gln379X Pathogenic Tug (2011)
Alport syndrome. Described in a large Turkish family
Exon 19 Missense never used c.1139G>A p.Gly380Asp Pathogenic Tazon-Vega (2007)
Alport syndrome.
Exon 19 Missense 1350G>A c.1148G>A p.Gly383Asp Pathogenic Kawai (1996)
Alport Syndrome
Intron 19 Splice Site 1367+1G>A c.1165+1G>A p.? Pathogenic Renieri (1996)
Alport syndrome. 5' splice signal
Intron 19 Splice Site 1367+2T>G c.1165+2T>G p.? Pathogenic Renieri (1996)
Alport syndrome. 5' splice signal
Exon 20-21 Large Deletion never used c.1166-?_1423+?del p.? Pathogenic Lemmink (1997)
truncated protein- in frame-affected individual
Exon 20-22 Large Deletion never used c.1166-?_1516+?del p.? Pathogenic Hertz (2008)
Alport syndrome. truncated protein
Exon 20-26 Large Deletion never used c.1166-?_2041+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. truncated protein
Exon 20 Deletion c.1383delG c.1181del p.Glu394fs Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 20 Silent 1393C>G c.1191C>G p.= Benign Wang (2005)
Found in conjunction with p.G403V Mutation
Exon 20 Missense 1401G>A c.1199G>A p.Gly400Glu Pathogenic Plant (1999)
Alport syndrome. Late onset Age at ESRD: 35. De novo mutation
Exon 20 Missense 1410G>T c.1208G>T p.Gly403Val Pathogenic Wang (2005)
Alport syndrome. Found in conjunction with p.G397G silent polymorphism Mutation; Interrupts Gly-X-Y
Exon 20 Insertion never used c.1213dup p.Arg405fs Pathogenic Tan (2010)
Alport syndrome
Exon 20 Insertion 1416_1417insA c.1214_1215insA p.Gln407fs Pathogenic Knebelmann (1996)
Alport syndrome truncated protein
Exon 20 Insertion 1419_1420
insGGGG
c.1214_1217dup p.Gln407fs Pathogenic Renieri (1996)
Alport syndrome; truncated protein.
Exon 20 Missense 1419G>T c.1217G>T p.Gly406Val Pathogenic Renieri (1996)
Alport syndrome. reported in several studies -late onset-ESRD at 31.5
Exon 20 Nonsense 1421C>T c.1219C>T p.Gln407X Pathogenic Hertz (2001)
Alport Syndrome- originaly reported aa 1422C>T
Exon 20 Nonsense never used c.1222A>T p.Lys408X Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 20 Missense 1428G>A c.1226G>A p.Gly409Asp Pathogenic Renieri (1996)
Alport syndrome. Interrupts continuous Gly-X-Y
Exon 20 Missense 1437G>T c.1235G>T p.Gly412Val Pathogenic Knebelmann (1996)
Alport syndrome. Late onse age at ESRD (33). De novo mutation
Exon 20 Missense 1445G>A c.1243G>A p.Gly415Arg Pathogenic Martin (2000)
Alport syndrome
Exon 20 Deletion never used c.1254del p.Pro419fs Pathogenic Nagel (2005)
Alport syndrome; Originally documented as c.1253delT in exon 19
Exon 20 Missense 1461G>A c.1259G>A p.Gly420Glu Pathogenic Knebelmann (1996)
Alport syndrome
Exon 20 Missense 1461G>T c.1259G>T p.Gly420Val Pathogenic Martin (1998)
Alport Syndrome. Reported in unrelated patients.
Exon 20 Deletion 1467delC c.1265del p.Pro422fs Pathogenic Knebelmann (1996)
Alport syndrome. truncated protein
Exon 20 Missense 1470G>A c.1268G>A p.Gly423Glu Pathogenic Knebelmann (1996)
Alport Syndrome
Exon 20 Missense never used c.1276G>A p.Gly426Arg Pathogenic Nagel (2005)
Alport Syndrome
Exon 20 Insertion 1482_1483insA c.1280dup p.Pro428fs Pathogenic Renieri (1996)
Alport syndrome; truncated protein.
Exon 20 Missense never used c.1286G>A p.Gly429Glu Pathogenic Tazon-Vega (2007)
Alport Syndrome
Exon 20 Insertion 1486_1487insG c.1288dup p.Ala430fs Pathogenic Wang (2005)
Alport syndrome originally documented as p.P446X
Exon 20 Missense never used c.1294G>A p.Gly432Arg Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 20 Missense 1533T>G c.1331T>G p.Ile444Ser Benign Wang (2005)
Previously reported as a polymorphism (Inoue 1999 Barker 2001) .Detected in 3 of 60 families; In association with benign polymorphisms: G365G I444S L685L Q1171Q D1425D. 0.5% in ExAc
Intron 20 Splice Site 1542-2A>G c.1340-2A>G p.? Pathogenic Lemmink (1997)
Alport syndrome.
Exon 21 Deletion 1552_1554delAT c.1350_1351del p.Ile450fs Pathogenic Plant (1999)
Alport syndrome. Protein truncation; Originally reported as 1550delAT fs450 stop+2
Exon 21 Deletion 1568_1576del c.1371_1379del p.Pro458_Pro460del Pathogenic Martin (1998)
Alport syndrome. Late onset. Age ESRD: 38- also describe in Renieri (1996) and Hertz (2001).
Exon 21 Deletion 1578delC c.1376delC p.Pro459fs Pathogenic Knebelmann (1996)
Alport syndrome truncated protein
Exon 21 Insertion c.1578insC c.1376dup p.Gly460fs Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 21 Missense 1599G>A c.1397G>A p.Gly466Glu Pathogenic Kawai (1996)
Alport Syndrome
Exon 21 Missense never used c.1406G>A p.Gly469Glu Pathogenic Nagel (2005)
Alport Syndrome. Originally reporte to be in exon 25.
Exon 21 Missense 1616G>A c.1414G>A p.Gly472Arg Pathogenic Plant (1999)
Alport syndrome
Exon 21 Missense never used c.1423G>A p.Gly475Ser Pathogenic Bekheirnia (2010)
Alport syndrome. Found in 2 families. Splicing might be affected (M. Gregory pers. com)
Intron 21 Splice Site 1625+1G>A c.1423+1G>A p.? Pathogenic Martin (1998)
Alport syndrome. Late onset ESRD at >35
Intron 21 Splice Site 1625+56_1625+57ins c.1423+57dup p.? Pathogenic Wang (2005)
Alport Syndrome. cDNA analysis shows partial ckipping of exon 22.
Intron 21 Splice Site never used c.1424-20T>A p.? Pathogenic Pont-Kingdon (2009)
Alport syndrome. Late onset Age at ESRD 32-Skip exon 22 in ectopic RT-PCR product (M. Gregory pres. com.)
Intron 21 Splice Site 1626-1G>A c.1424-1G>A p.Gly475_Pro505del Pathogenic Wang (2005)
Alport Syndrome. RNA analysis revealed r.1626_1718del (del Exon 22)
Exon 22-28; 38-51 Large Deletion never used c.1424-?_2244+?del;
3374-?_5058+?del
p.? Pathogenic Lemmink (1997)
Alport syndroem. truncated protein
Exon 22 Missense 1674G>A c.1472G>A p.Gly491Glu Pathogenic Knebelmann (1996)
Alport Syndrome
Exon 22 Missense 1683G>A c.1481G>A p.Gly494Asp Pathogenic Renieri (1996)
Alport syndrome.
Exon 22 Deletion 1685del36 c.1483del36 p.Gln495_Gly506del Pathogenic Renieri (1996)
Alport syndrome. De novo mutation. In frame deletion of 12 amino acids
Exon 22 Missense 1691G>T c.1489G>T p.Gly497Cys Pathogenic Knebelmann (1996)
Alport Syndrome late onset mean age at ESRD: 47
Exon 22 Missense never used c.1498G>C p.Gly500Arg Pathogenic Tan (2010)
Alport syndrome. ESRD after 30
Intron 22 Splice Site never used c.1516+1G>A p.? Pathogenic Nagel (2005)
Alport syndrome. RNA studies: Two aberrant mRNA: skipping of exon 22 and skipping of exon 22 with insertion of 44 bp of intron 21.
Intron 22 Splice Site never used c.1517-1G>T p.? Pathogenic Tang (2008)
Alport syndrome.
Exon 23 Deletion 1744_1745delAG c.1542_1543del p.Glu516fs Pathogenic Plant (1999)
Alport syndrome Protein truncation late onset (ESRD at 30)
Exon 23 Missense 1763G>T c.1561G>T p.Gly521Cys Pathogenic Hertz (2001)
Alport Syndrome
Exon 23 Missense 1764G>A c.1562G>A p.Gly521Asp Pathogenic King (2006)
Alport Syndrome
Exon 23 Deletion 1768delA c.1567del p.Thr523fs Pathogenic Renieri (1996)
Alport syndrome; truncated protein. Orignally reported as 523fs
Exon 23 Missense 1773G>A c.1571G>A p.Gly524Asp Pathogenic Knebelmann (1996)
Alport Syndrome late onset mean age at ESRD: 41
Exon 23 Deletion 1783_1798del16 c.1581_1596del p.Leu528fs Pathogenic Plant (1999)
Alport syndrome. Aberrant splicing. Observed in 2 independant famillies
Intron 23 Splice Site 1789+1delG c.1587+1delG p.? Pathogenic Knebelmann (1996)
Alport Syndrome. Originally Documented as 1791+1delG.
Intron 23 Splice Site 1789+1G>A c.1587+1G>A p.? Pathogenic Martin (1998)
Alport syndrome
Exon 24 Missense never used c.1589G>A p.Gly530Asp Pathogenic Zhang (2011)
Alport syndrome.
Exon 24 Missense never used c.1598G>A p.Gly533Glu Pathogenic Pont-Kingdon (2009)
Alport syndrome. Late onset Age at ESRD 32
Exon 24 Missense never used c.1607G>A p.Gly536Asp Pathogenic Tazon-Vega (2007)
Alport syndrome
Exon 24 Missense 1835G>C c.1633G>C p.Gly545Arg Pathogenic Plant (1999)
Alport syndrome
Exon 24 Missense 1836G>T c.1634G>T p.Gly545Val Pathogenic Plant (1999)
Alport syndrome
Exon 24 Missense never used c.1643G>A p.Gly548Asp Pathogenic Pont-Kingdon (2009)
Alport syndrome. Late onset Age at ESRD 45
Exon 24 Deletion 1855delC c.1653delC p.Leu550fs Pathogenic Wang (2005)
Alport syndrome; originally documented as 1855_1856delC p.G555X
Exon 24 Missense 1874G>C c.1672G>C p.Gly558Arg Pathogenic Barker (2001)
Alport Syndrome
Exon 24 Missense 1883G>A c.1681G>A p.Gly561Arg Pathogenic Plant (1999)
Alport syndrome. De novo mutation
Exon 24 Missense never used c.1690G>T p.Gly564Cys Pathogenic Tan (2010)
Alport syndrome
Exon 24 Missense 1902G>C c.1700G>C p.Gly567Ala Pathogenic Renieri (1996)
Alport syndrome. Interrupts continuous Gly-X-Y
Exon 24 Missense 1920G>A c.1718G>A p.Gly573Asp Pathogenic Hertz (2001)
Alport Syndrome
Exon 24 Missense never used c.1726G>A p.Gly576Ser Pathogenic Bekheirnia (2010)
Alport syndrome. Late onset.ESRD at 44.
Exon 24 Missense 1937G>A c.1735G>A p.Gly579Arg Pathogenic Plant (1999)
Alport syndrome
Exon 24 Missense 1937G>A c.1736G>A p.Gly579Gln Pathogenic Inoue (1999)
Alport syndrome
Exon 24 Nonsense never used c.1738C>T p.Gln580X Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 24-26 Large Deletion 1941del1.4kb
(to 2150+98)
c.1739_1948+98del p.Gln580_Gly650delinsArg Pathogenic Plant (1999)
Alport Syndrome. Originally Documented as 1941 del1.4kb (to 2150+98) del aa 545-649
Exon 24 Missense never used c.1744G>A p.Gly582Arg Pathogenic Ma (2011)
Alport syndrome
Exon 24 Deletion c.1959_1972del14 c.1757_1770del p.Leu586fs Pathogenic Bekheirnia (2010)
Alport syndrome
Intron 24 Splice Site 1981+1G>T c.1779+1G>T p.? Pathogenic Renieri (1996)
Alport syndrome. 5' splice signal
Intron 24 Splice Site c.1981+3G>C c.1779+3G>C p.? Pathogenic Bekheirnia (2010)
Alport syndrome
Intron 24 Splice Site 1982-1G>A c.1780-1G>A p.? Pathogenic King (2006)
Alport Syndrome. Acceptor splice disruption.
Exon 25 Missense 1982G>A c.1780G>A p.Gly594Ser Pathogenic Hertz (2001)
Alport syndrome; found in four apparently unrelated families. late onset . Age at ESRD in male 28-74
Exon 25 Missense (or splice site) 1985G>A c.1783G>A p.Gly595Arg Pathogenic Hertz (2001)
Alport Syndrome late onset (age at ESRD in male 30). Wang (2012) classifies as splicing defect and observed deletion of exon 25 sequences from mRNA.
Exon 25 Missense 2010G>T c.1808G>T p.Gly603Val Pathogenic Barker (2001)
Alport Syndrome
Exon 25 Missense 2027G>C c.1825G>C p.Gly609Arg Pathogenic Knebelmann (1996)
Alport Syndrome
Exon 25 Missense 2028G>T c.1826G>T p.Gly609Val Pathogenic Lemmink (1997)
Alport syndrome
Exon 25 Missense never used c.1835G>A p.Gly612Asp Pathogenic Ma (2011)
Alport syndrome
Exon 25 Missense/Splice Site never used c.1856C>T p.Pro619Leu Pathogenic Tazon-Vega (2007)
Alport syndrome. Observed in a male with late onset ESDR (38 years old)Mutation should change a Proline to a leucine. cDNA studies showed that splicing is affected and nt 1780-1885 deleted from the cDNA. Reported by others (Hertz 2001 Palenzuela 2002)
Exon 25 Missense 2063G>T c.1861G>T p.Gly621Cys Pathogenic Knebelmann (1996)
Alport Syndrome
Exon 25 Missense 2073G>A c.1871G>A p.Gly624Asp Pathogenic Slajpah (2007)
Alport syndrome. Interrupts continuous Gly-X-Y. Found in 6 unrelated Slovenian famillies (Slajpah 2007). Previously reported By Martin (1998). Reported as moderate in Hellenic families by Dermothenous et al 2012. Reported as c.1871C>A in Fallerini_2014. 0.015% in AE in ESP 0.008% in ExAc
Exon 25 Missense 2079G>C c.1877G>C p.Gly626Ala Pathogenic Hertz (2001)
Alport Syndrome -moderate (age at ESRD in male 38-60)
Exon 25 Missense never used c.1883C>T p.Pro628Leu Pathogenic Demosthenous (2012)
Alport Syndrome moderate (age at ESRD in male 30-57)
Exon 25 Missense 2088G>A c.1886G>A p.Gly629Asp Pathogenic Barker (2001)
Alport Syndrome
Exon 25 Missense 2097G>A c.1895G>A p.Gly632Asp Pathogenic Knebelmann (1996)
Alport Syndrome. De novo mutation
Exon 25 Missense 2099G>A c.1897G>A p.Glu633Lys Pathogenic Inoue (1999)
Alport Syndrome. moderate (>30years at ESRD)
Exon 25 Missense 2106G>A c.1904G>A p.Gly635Asp Pathogenic Martin (1998)
Alport syndrome
Exon 25 Missense 2114G>A c.1912G>A p.Gly638Ser Pathogenic Plant (1999)
Alport syndrome
Exon 25 Missense 2115G>C c.1913G>C p.Gly638Ala Pathogenic Plant (1999)
Alport syndrome
Exon 25 Missense 2115G>T c.1913G>T p.Gly638Val Pathogenic Plant (1999)
Alport syndrome
Intron 25 Splice Site 2150+1G>A c.1948+1G>A p.? Pathogenic Wang (2005)
Affected Individual. del Exon 25
Exon 26-29 Large Deletion never used c1949-?_2395+?del p.? Pathogenic Plant (1999)
Effect Unknown. Clinical information in that patient were not available
Exon 26-37 Large Deletion never used c.1949-?_3373+?del p.? Pathogenic Hertz (2008)
Alport Syndrome.
Exon 26 Missense 2159G>A c.1957G>A p.Gly653Arg Pathogenic Plant (1999)
Alport syndrome
Exon 26 Deletion 2162delG c.1960delG p.Asp654fs Pathogenic Knebelmann (1996)
Alport syndrome truncated protein
Exon 26 Missense 2194G>T c.1992G>T p.Lys664Asn Benign Slajpah (2007)
Associated with Alport patients and healphy individuals. 1.3% in AE in ESP 0.8% in ExAc
Exon 26 Missense 2199G>A c.1997G>A p.Gly666Asp Pathogenic Slajpah (2007)
Alport syndrome. Interrupts continuous Gly-X-Y
Exon 26 Missense 2207G>C c.2005G>C p.Gly669Arg Pathogenic Wang (2005)
Alport syndrome
Exon 26 Missense 2208G>C c.2006G>C p.Gly669Ala Pathogenic Plant (1999)
Alport syndrome
Exon 26 Missense never used c.2014G>C p.Gly672Arg Pathogenic Ma (2011)
Alport syndrome
Exon 26 Deletion 2220delG c.2018delG p.Arg673fs Pathogenic Renieri (1996)
Alport syndrome. De novo mutation. truncated protein. 673fs
Exon 26 Missense never used c.2023G>A p.Gly675Ser Pathogenic Nagel (2005)
Alport Syndrome
Intron 26 Splice Site 2243+1G>T c.2041+1G>T p.? Pathogenic Martin (1998)
Alport syndrome.
Intron 26 Splice Site never used c.2042-18A>G p.? Pathogenic Savige (2008)
Alport syndrome. Reported in Human Genetics' novel human pathological mutations. cDNA data in Hashimura 2014 indicated skipping of exon 27
Exon 27 Missense 2244G>A c.2042G>A p.Gly681Asp Pathogenic Knebelmann (1996)
Alport syndrome truncated protein
Exon 27 Nonsense 2252G>T c.2050G>T p.Gly684X Pathogenic Plant (1999)
Alport Syndrome. Protein truncation
Exon 27 Missense 2253G>T c.2051G>T p.Gly684Val Pathogenic Kawai (1996)
Alport Syndrome; Reported as adult type by authors.
Exon 27 Silent 2257T>C c.2055T>C p.= Benign Barker (2001)
In benign haplotype: G365G I444S L685L Q1171Q D1425D. Does not always segregate with disease
Exon 27 Deletion never used c.2057del p.Pro686fs Pathogenic Tazon-Vega (2007)
Alport syndrome. Frame shift mutation
Exon 27 Missense 2262G>A c.2060G>A p.Gly687Glu Pathogenic Plant (1999)
Alport syndrome
Exon 27 Insertion never used c.2062_2114dup p.Ile706fs Pathogenic Tazon-Vega (2007)
Alport syndrome. cDNA study indicated skipping of exon 27.
Exon 27 Nonsense never used c.2098G>T p.Glu700X Pathogenic Hertz (2008)
Alport syndrome
Exon 27 Missense 2309A>G c.2107A>G p.Ile703Val Benign Wang (2005)
Found in conjunction with p.G325R mutation. Pathogenicity of this substitution not established
Exon 27 Missense 2348G>C c.2146G>C p.Gly716Arg Pathogenic Kawai (1996)
Alport Syndrome Donor splice. Skip exon 28
Intron 27 Splice Site never used c.2146+3A>C p.? Pathogenic Nagel (2005)
Alport syndrome. Mutations affecting the less conserved parts of the acceptor splice signal.
Intron 27 Splice Site 2349-3C>G c.2147-3C>G p.? Pathogenic Martin (1998)
Alport syndrome. Reported only in female with mild phenotype. Reported as c.2439 in Bekheirnia (2010)
Intron 27 Splice Site never used c.2147-2A>G p.? Pathogenic Nagel (2005)
Alport syndrome. Mutation in donor splice signal.
Exon 28 Deletion 2349delG c.2147del p.Gly716fs Pathogenic Martin (1998)
Alport syndrome . Truncated protein
Exon 28-32 Large Duplication never used c.2147-?_2767+?dup p.? Pathogenic Lemmink (1997)
Alport syndrome. Aberrant protein
Exon 28 Missense never used c.2155G>C p.Gly719Arg Pathogenic Pont-Kingdon (2009)
Alport syndrome. Late onset Age at ESRD>38
Exon 28 Missense never used c.2164G>C p.Gly722Arg Pathogenic Ma (2011)
Alport syndrome
Exon 28 Missense 2367G>A c.2165G>A p.Gly722Glu Pathogenic Barker (2001)
Alport Syndrome
Exon 28 Deletion 2408_2428del21 c.2207_2227del p.Glu736_Pro742del Pathogenic King (2006)
Alport Syndrome. In frame deletion of 7 aa
Exon 28 Missense never used c.2215C>T p.Pro739Ser Pathogenic Cheong (2000)
Alport syndrome
Exon 28 Missense 2421G>A c.2219G>A p.Gly740Glu Pathogenic Kawai (1996)
Alport Syndrome. Originaly reported as c.2420 G>A
Exon 28 Missense 2430G>A c.2228G>A p.Gly743Asp Pathogenic Plant (1999)
Alport syndrome
Intron 28 Splice Site c.2446+1G>T c.2244+1G>T p.? Pathogenic Bekheirnia (2010)
Alport syndrome
Intron 28 Splice Site 2446+2T>C c.2244+2T>G p.? Pathogenic King (2006)
Alport Syndrome. Donor splice disruption
Intron 28 Splice Site 2447-1G>A c.2245-1G>A p.? Pathogenic Martin (1998)
Alport syndrome
Exon 29 Missense never used c.2287G>A p.Gly763Arg Pathogenic Nagel (2005)
Alport Syndrome
Exon 29 Missense never used c.2288G>A p.Gly763Glu Pathogenic Pont-Kingdon (2009)
Alport syndrome. Late onset Age at ESRD 42
Exon 29 Missense 2499G>A c.2297G>A p.Gly766Asp Pathogenic Hertz (2001)
Alport Syndrome late onset (age at ESRD in male 36)
Exon 29 Missense never used c.2305G>A p.Gly769Arg Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 29 Missense 2517G>A c.2315G>A p.Gly772Asp Pathogenic Kawai (1996)
Alport Syndrome
Exon 29 Missense never used c.2315G>C p.Gly772Ala Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 29 Insertion 2524_2525insA c.2322dup p.Gly775fs Pathogenic Hertz (2001)
Alport Syndrome Protein truncation. Originally reported as 2520_2521insA
Exon 29 Missense 2534G>A c.2332G>A p.Gly776Ser Pathogenic Plant (1999)
Alport syndrome. Possible late onset age ESRD 33-42
Exon 29 Deletion 2550delC c.2348delC p.Pro783fs Pathogenic Martin (1998)
Alport syndrome. Originally Documented as 2549delC
Exon 29 Silent 2551G>A c.2349G>A p.= Benign Barker (2001)
In benign haplotype: G365G I444S L685L Q1171Q D1425D. Does not always segregate with disease
Exon 29 Missense 2562G>T c.2360G>T p.Gly787Val Pathogenic King (2006)
Alport Syndrome
Exon 29 Missense 2588G>A c.2386G>A p.Gly796Arg Pathogenic Plant (1999)
Alport syndrome
Exon 29 Splice Site c.2596A>G c.2394A>G p.? Pathogenic Bekheirnia (2010)
Alport syndrome. K798K Splice site variant. Found in affected members (age ESRD= 16-36). Exon 29 skipped (M. Gregory pers. Com)
Intron 29 Splice Site 2597+2delT c.2395+2delT p.? Pathogenic Renieri (1996)
Alport syndrome. 5' splice signal
Intron 29 Splice site c.2395+2750A>G c.2395+2750A>G p.? Pathogenic King (2002)
Alport syndrome. This mutation creates a novel acceptor site in intron 29 that is used for splicing of a novel exon (cDNA evidence).Wrong reference link in HGMD
Exon 30 Deletion 2606-2623del c.2404-2421del18 p.Gly802_Pro807del Pathogenic Hertz (2001)
Alport Syndrome
Exon 30 Missense 2606G>A c.2404G>A p.Gly802Arg Pathogenic Knebelmann (1996)
Alport syndrome. De novo mutation
Exon 30 Missense 2625G>A c.2423G>A p.Gly808Glu Pathogenic Plant (1999)
Alport syndrome Possible late onset age ESRD <43
Exon 30 Missense 2633G>A c.2431G>A p.Gly811Arg Pathogenic Slajpah (2007)
Alport syndrome. Originally Documented as 2633C>A instead of G>A
Exon 30 Missense 2634G>T c.2432G>T p.Gly811Val Pathogenic Knebelmann (1996)
Alport syndrome truncated protein
Exon 30 Indel 2636delCCTCCTGG
insAACCTGGACCAA
TGGGACCAATGGGA
ACAC;2636del8ins30
c.2434_2441deli
nsAACCTGGACCAAT
GGGACCAATGGGAA
CAC
p.Pro812fs Pathogenic Martin (1998)
Alport syndrome. Creates frameshift.
Exon 30 Indel 2654_2656delATA/
2653_2654insT
c.2452_2454delinsT p.Ile818fs Pathogenic Hertz (2001)
Alport Syndrome Protein truncation
Exon 30 Deletion 2666_2674del9 c.2475_2483del p.Pro826_Gly828del Pathogenic Plant (1999)
Alport syndrome. One Gly-X-Y deleted
Exon 30 Missense 2666G>C c.2464G>C p.Gly822Arg Pathogenic Cruz-Robles (1999)
Alport Syndrome. ESRD>30 years old
Exon 30 Missense never used c.2465G>C p.Gly822Val Pathogenic Jovanovic direct submission
Interruppt Gly-X-Y segment. Observed I a mother with ESRD (50) and daugher with mild to moderate renal function impairment and microhematuria
Exon 30 Nonsense never used c.2473G>T p.Gly825X Pathogenic Tan (2010)
Alport syndrome
Exon 30 Deletion never used c.2477del p.Pro826fs Pathogenic Pont-Kingdon (2009)
Alport syndrome. Late onset Age at ESRD 44
Exon 30 Missense never used c.2483G>A p.Gly828Glu Pathogenic Ma (2011)
Alport syndrome
Exon 30 Missense never used c.2500G>C p.Gly834Arg Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 30 Splice Site never used c.2509G>A p.? Pathogenic Tazon-Vega (2007)
Alport syndrome. 5'ss weakened cryptic 5' and 3' ss activated; in frame insertion of 9nt of intron 30 as a mini exon of 3 aa
Intron 30 Splice Site 2712-33A>G c.2510-33A>G p.? Pathogenic Barker (2001)
Mild AS. No changes evident by mRNA study classified as polymorphism in Barker 2001.
Exon 31 Deletion 2712delG c.2510del p.Gly837fs Pathogenic King (2006)
Alport Syndrome. Truncated protein
Exon 31-36 Large Deletion never used c2510-?_3246+?del p.? Pathogenic King (2006)
Alport Syndrome
Exon 31 Large Deletion c.2712-?_2789+?del c.2510-?_2677+?del p.? Pathogenic Bekheirnia (2010)
Alport syndrome. Deletion exon 31. Reported as c.2712-?_2779+?del
Exon 31 Deletion 2752_2775del c.2550_2573del p.Pro851_Pro858del Pathogenic Wang (2005)
Alport syndrome; inframe deletion
Exon 31 Missense 2756G>A c.2554G>A p.Gly852Arg Pathogenic Kawai (1996)
Alport Syndrome
Exon 31 Missense 2757G>A c.2555G>A p.Gly852Glu Pathogenic Plant (1999)
Alport syndrome
Exon 31 Missense never used c.2578G>C p.Gly860Arg Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 31 Indel never used c.2587_2606delins75 p.? Pathogenic Ma (2011)
Alport syndrome
Exon 31 Deletion 2791del36 c.2590_2625del p.Ser864_Gly875del Pathogenic Martin (2000)
Alport syndrome
Exon 31 Deletion 2797-2814del18 c.2595_2612del p.Gly866_Pro871del Pathogenic Gross (2002)
Alport Syndrome
Exon 31 Missense 2799G>A c.2597G>A p.Gly866Glu Pathogenic Renieri (1996)
Alport syndrome. Late onset ESRd at age >31. Detected in two apparently unrelated families
Exon 31 Missense 2807G>A c.2605G>A p.Gly869Arg Pathogenic Plant (1999)
Alport syndrome. Found in five unrelated individuals and reported previously in two unrelated Italian families [Renieri] a French family [Knebelmann]. Also reported by Martin 1998. Reported in 3 additional chinese patients (Wang 2012). late onset age at ESRD: 19-35
Exon 31 Missense 2816G>C c.2614G>C p.Gly872Arg Pathogenic Plant (1999)
Alport syndrome
Exon 31 Missense never used c.2623G>C p.Gly875Arg Pathogenic Ma (2011)
Alport syndrome
Exon 31 Missense never used c.2624G>A p.Gly875Glu Pathogenic Tazon-Vega (2007)
Alport syndrome.
Exon 31 Deletion 2827delA c.2625del p.Gly875fs Pathogenic Plant (1999)
Alport syndroem. Protein truncation; originally documented as fs 876 stop+25
Exon 31 Missense 2835G>T c.2633G>T p.Gly878Val Pathogenic Plant (1999)
Alport syndrome
Exon 31 Deletion 2845delG c.2643del p.Leu882fs Pathogenic Barker (2001)
Alport syndrome. Truncated protein
Exon 31 Missense never used c.2659G>C p.Gly887Arg Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 31 Missense never used c.2660G>T p.Gly887Val Pathogenic Nagel (2005)
Alport Syndrome
Intron 31 Splice site never used c.2678-10T>G p.Gly893_Gly923del Pathogenic King (2002)
Alport syndrome. This mutation affect efficiency of the acceptor splicing site resulting in skipping of exon 32 (cDNA data)
Exon 32 Missense never used c.2678G>T p.Gly893Val Pathogenic Bekheirnia (2010)
Alport syndrome. Splicing possibly affected
Exon 32-36 Large Deletion never used c.2678-?_3246+?del p.? Pathogenic Bekheirnia (2010)
Alport Syndrome. Deletion exons 32-36
Exon 32 Deletion c.2888delG c.2687del p.Gly896fs Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 32 Missense 2894A>G c.2692A>G p.Met898Val Uncertain Barker (2001)
Mild AS. M898 conserved in other collagen and other species: female with hematuria and father with hematuria and HL only at age 70. 0.014% in AE in ESP. 0.03% in ExAc
Exon 32 Deletion never used c.2696_2705del p.Gly899fs Pathogenic Zhang (2011)
Alport syndrome
Exon 32 Missense never used c.2696G>T p.Gly899Val Pathogenic Ma (2011)
Alport syndrome
Exon 32 Missense never used c.2705G>T p.Gly902Val Pathogenic Cheong (2000)
Alport syndrome
Exon 32 Insertion never used c.2708dup p.Pro904fs Pathogenic Tazon-Vega (2007)
Alport syndrome. Reported as g.2707_2708insC
Exon 32 Missense never used c.2722G>A p.Gly908Arg Pathogenic Tan (2010)
Alport syndrome
Exon 32 Missense never used c.2731G>A p.Gly911Arg Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 32 Missense never used c.2732G>A p.Gly911Glu Pathogenic Cheong (2000)
Alport syndrome
Exon 32 Indel 2948del13insAT c.2746del13insAT p.Ser916fs Pathogenic Plant (1999)
Alport sydrome.Protein truncation; Originally reported as fs 916 stop+2 reported in with 2767+19dup2760_2767+19
Exon 32 Missense 2948A>G c.2746A>G p.Ser916Gly Pathogenic Barker (2001)
Alport Syndrome- causes skipping of exon 32-demonstrated by mRNA studies
Intron 32 Splice site never used c.2767+2delT p.? Pathogenic Tazon-Vega (2007)
Alport syndrome. 5'ss inactivated exon 32 skipped (in frame)
Intron 32 Splice Site 2970-11A>G c.2768-11A>G p.? Benign Barker (2001)
In benign haplotype with c.609+21T>C - Does not always segregate with disease.
Exon 33 Nonsense never used c.2782C>T p.Gln928X Pathogenic Bekheirnia (2010)
Alport syndrome. Reported in 2 individuals. Age of ESRD 32-33
Exon 33 Nonsense 2990C>T c.2788C>T p.Gln930X Pathogenic Wang (2005)
Alport syndrome; truncated protein
Exon 33 Insertion 3004_3005insT c.2802dup p.Gly935fs Pathogenic Hertz (2001)
Alport Syndrome Protein truncation
Exon 33 Missense never used c.2804G>A p.Gly935Asp Pathogenic Nagel (2005)
Alport Syndrome
Exon 33 Missense 3023G>T c.2821G>T p.Gly941Cys Pathogenic Hertz (2001)
Alport Syndrome late onset (age at ESRD in male >50). Also classified as adult type by Martin 1998 (age ESRD: 40)
Exon 33 Deletion 3025delTAG c.2825_2827del p.Ser942del Pathogenic Renieri (1996)
Alport syndrome. De novo mutation. In frame deletion of 1amino acid
Exon 33 Missense 3042 G>A c.2840G>A p.Gly947Asp Pathogenic Inoue (1999)
Alport syndrome
Exon 33 Deletion 3048delC c.2846del p.Pro949fs Pathogenic King (2006)
Alport Syndrome. Truncated protein
Exon 33 Missense 3060G>T c.2858G>T p.Gly953Val Likely Benign Knebelmann (1996)
This mutation is reported in several individuals with Alport syndrome but has been reported on the same allele as reportedly pathogenic variants (p.Gly1211Glu and p.Gly1158Arg) (Knebelmann 1996, Inoue 1999, Wang 2012). This variant is found in the East Asian population with an overall allele frequency of 3.7% (513/13865 alleles, including 7 homozygotes and 169 hemizygotes) in the Genome Aggregation Database. The increased allele frequency in East Asians indicates this variant is likely benign.
Intron 33 Splice Site 3119+1G>C c.2917+1G>C p.? Pathogenic Knebelmann (1996)
Alport Syndrome
Intron 33 Splice Site c.3119+1G>T c.2917+1G>T p.? Pathogenic Bekheirnia (2010)
Alport syndrome
Intron 33 Splice Site 3120-1G>T c.2918-1G>T p.? Pathogenic Knebelmann (1996)
Alport Syndrome; late onset mean age ESRD: 30.5 years
Exon 34-51 Large Deletion never used c.2918-?_5058+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. del 300kb. Truncated protein
Exon 34 Deletion 3131delAG c.2928_2929del p.Val977fs Pathogenic Plant (1999)
Alport syndrome. Originally reported as fs 971 stop+15
Exon 34 Deletion 3145delA c.2943del p.Lys981fs Pathogenic Peissel (1994)
Alport syndrome. Juvenile case. Truncated protein
Exon 34 Deletion never used c.2947del p.Tyr983fs Pathogenic Demosthenous (2012)
Alport syndrome. reported as deletion of T at position c.2946delT (G982fs). Current nomenclature classifies it as c.2947del (p.Tyr983Ilefs13).
Exon 34 Deletion 3161_3178del18 c.2965_2982del p.Asp989_Gly994del Pathogenic Plant (1999)
Alport Syndrome. 2 Gly-X-Y deleted
Exon 34 Deletion 3167delG c.2965del p.Asp989fs Pathogenic Lemmink (1997)
Originally documented as 3166delG
Exon 34 Missense never used c.2999G>T p.Gly1000Val Benign Kaneko (2010)
Associated with benign familial hematuria
Intron 34 Splice Site 3218+1G>T c.3016+1G>T p.? Pathogenic Barker (2001)
Alport Syndrome
Intron 34 Splice Site never used c.3017-4A>G p.? Uncertain Ma (2011)
Alport Syndrome. Prediction to affect splicing is weak. Need cDNA confirmation
Intron 34 Splice Site 3219-1G>A c.3017-1G>A p.? Pathogenic Barker (2001)
Alport Syndrome
Exon 35 Missense 3219G>T c.3017G>T p.Gly1006Val Pathogenic Barker (2001)
Alport Syndrome. Also mutates splice acceptor site but no RNA changes observed. Late onset (66 at ESRD- Bekheirnia 2010)
Exon 35-36 Large Deletion never used c.3017-?_3246+?del p.? Pathogenic King (2006)
Alport Syndrome
Exon 35 Missense 3246G>T c.3044G>T p.Gly1015Val Pathogenic Knebelmann (1996)
Alport syndrome truncated protein
Exon 35 Nonsense 3248C>T c.3046C>T p.Gln1016X Pathogenic Knebelmann (1996)
Alport syndrome; Protein Truncation
Exon 35 Deletion never used c.3046del p.Gln1016fs Pathogenic Ma (2011)
Alport syndrome
Exon 35 Deletion 3259delT c.3057del p.Leu1019fs Pathogenic Knebelmann (1996)
Alport syndrome truncated protein
Exon 35 Missense 3282G>T c.3080G>T p.Gly1027Val Pathogenic Wang (2005)
Alport syndrome. Interrupts continuous Gly-X-Y
Exon 35 Missense 3290G>A c.3088G>A p.Gly1030Ser Pathogenic Martin (1998)
Alport syndrome. Late onset. Age at ESRD: 37
Intron 35 Splice Site never used c.3106+4del; 3106+6_17del p.? Pathogenic Nagel (2005)
Alport syndrome. Mutations affecting the less conserved parts of the acceptor splice signal
Intron 35 Splice Site 3309-2A>G c.3107-2A>G p.? Pathogenic Hertz (2001)
Alport Syndrome
Exon 36 Missense 3309G>T c.3107G>T p.Gly1036Val Pathogenic Knebelmann (1996)
Alport syndrome.De novo mutation
Exon 36 Missense 3317G>A c.3115G>A p.Gly1039Ser Pathogenic Knebelmann (1996)
Alport syndrome truncated protein
Exon 36 Missense 3336G>A c.3134G>A p.Gly1045Glu Pathogenic Martin (2000)
Alport syndrome
Exon 36 Deletion c.3369delC c.3167del p.Pro1056fs Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 36 Nonsense 3371G>T c.3169G>T p.Gly1057X Pathogenic Knebelmann (1996)
Alport syndrome; Protein Truncation
Exon 36 Nonsense 3380G>T c.3178G>T p.Gly1060X Pathogenic Martin (1998)
Alport syndrome. Truncated protein
Exon 36 Nonsense 3383C>T c.3181C>T p.Gln1061X Pathogenic Plant (1999)
Alport syndrome
Exon 36 Missense never used c.3188G>T p.Gly1063Val Pathogenic Nagel (2005)
Alport Syndrome
Exon 36 Missense 3398G>C c.3196G>C p.Gly1066Arg Pathogenic Knebelmann (1996)
Alport syndrome truncated protein
Exon 36 Missense 3398G>A c.3196G>A p.Gly1066Ser Pathogenic Martin (1998)
Alport syndrome. Reported in unrelated patients. 0.001% in ExAc
Exon 36 Missense 3399G>C c.3197G>C p.Gly1066Ala Pathogenic Barker (2001)
Alport Syndrome
Exon 36 Missense never used c.3206G>T p.Gly1069Val Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 36 Nonsense 3414C>G c.3212C>G p.Ser1071X Pathogenic Hertz (2001)
Alport Syndrome
Exon 36 Missense never used c.3247G>A p.Gly1083Ser Pathogenic Nagel (2005)
Alport Syndrome
Exon 37 Deletion never used c.3247-?_3373+?del p.? Pathogenic Tazon-Vega (2007)
Alport Syndrome. Deletion of exon 37 from RNA Creates frameshift and early termination
Exon 37-45 Large Deletion never used c.3247-?_4198+?del p.? Pathogenic Plant (1999)
Alport syndrome
Exon 37-51 Large Deletion never used c.3247-?_5058+?del p.? Pathogenic Nozu (2008)
Alport Syndrome.
Exon 37 Large Deletion never used c.3247-?_3373+?del p.? Pathogenic Bekheirnia (2010)
Alport syndrome. Deletion exon 37- reported also by Tazon-Vega (2007)
Exon 37 Silent 3457G>A c.3255T>A p.= Benign Inoue (1999)
Suspected polymorphism
Exon 37 Missense never used c.3256G>C p.Gly1086Arg Pathogenic Tazon-Vega (2007)
Alport syndrome. Late onset at ESRD (male 33 years)
Exon 37 Missense 3459G>A c.3257G>A p.Gly1086Asp Pathogenic Martin (2000)
Alport syndrome
Exon 37 Nonsense 3491A>T c.3289A>T p.Lys1097X Pathogenic Martin (1998)
Alport syndrome . Truncated protein
Exon 37 Missense 3513G>T c.3311G>T p.Gly1104Val Pathogenic Kawai (1996)
Alport Syndrome
Exon 37 Missense 3521G>A c.3319G>A p.Gly1107Arg Pathogenic Plant (1999)
Alport syndrome
Exon 37 Insertion c.3528insT c.3326_3327insT p.Gly1110fs Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 37 Deletion 3533delA c.3331del p.Thr1111fs Pathogenic Renieri (1996)
Alport syndrome. Truncated protein; Originally documented as 1110fs
Exon 37 Insertion 3539_3540insCCTG c.3334_3337dup p.Gly1113fs Pathogenic Renieri (1996)
Alport syndrome. Truncated protein; Originally documented as 1112fs
Exon 37 Missense never used c.3347G>T p.Gly1116Val Pathogenic Bekheirnia (2010)
Alport syndrome. Late onset ESRD at 48 no occular changes or hearing lost observed
Intron 37 Splice Site c.3575+1G>A c.3373+1G>A p.? Pathogenic Bekheirnia (2010)
Alport syndrome
Intron 37 Splice Site 3576-11C>A c.3374-11C>A p.? Pathogenic Martin (2000)
Found in an Alport syndrome patient. Coorelates with disease. No RNA data.
Exon 38-41 Large Deletion never used c.3374-?_3790+?del p.? Pathogenic Plant (1999)
Alport syndrome
Exon 38-46 Insertion never used not available p.? Pathogenic Lemmink (1997)
Alport syndrome. truncated protein
Exon 38-51 Large Deletion never used c.3374-?_5058+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. del34 kb. truncated protein
Exon 38-51 Large Duplication never used c.3374-?_5058+?dup p.? Pathogenic Lemmink (1997)
Alport syndrome. ~35kb dupl (exon 38-51) Aberrant protein. Late onset ESRD 33
Exon 38 Indel c.3605del16ins3 c.3403_3418delins3 p.Ile1135fs Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 38 Deletion 3615delC c.3413del p.Pro1138fs Pathogenic Slajpah (2007)
Originally documented as 3615_3616delC
Exon 38 Missense 3629G>A c.3427G>A p.Gly1143Ser Pathogenic Renieri (1996)
Alport syndrome. Late age on onset (39 (M) -63 F). Reported by others
Exon 38 Missense 3630G>A c.3428G>A p.Gly1143Asp Pathogenic Hertz (2001)
Alport Syndrome.
Intron 38 Splice Site 3656+1G>T c.3454+1G>T p.? Pathogenic Hertz (2001)
Alport Syndrome. Skips exon38; identified in two apparently unrelated families
Intron 38 Splice Site 3657-9A>G c.3455-9A>G p.? Pathogenic Martin (2000)
Alport syndrome. Late age on onset (37.3)
Exon 39 Missense 3674G>A c.3472G>A p.Gly1158Arg Pathogenic Inoue (1999)
Alport Syndrome. Associated with G953V and slight proteinuria
Exon 39 Deletion 3676delG c.3474del p.Gly1158fs Pathogenic Hertz (2001)
Alport Syndrome; Protein truncation
Exon 39 Missense 3683G>A c.3481G>A p.Gly1161Arg Pathogenic Plant (1999)
Alport syndrome
Exon 39 Missense 3701G>A c.3499G>A p.Gly1167Ser Pathogenic Martin (2000)
Alport syndrome. Late age on onset (32.6)
Exon 39 Missense 3710G>A c.3508G>A p.Gly1170Ser Pathogenic Inoue (1999)
Alport syndrome. Classified as moderate in Pont-kingdon 2009. Age at ESRD 38. Found in patients with focal segmental glomerulosclerosis (Gast 2015)
Exon 39 Deletion 3711delG c.3509del p.Gly1170fs Pathogenic Renieri (1996)
Alport syndrome. Truncated protein; 1170fs Originally documented as deletion of G at 3710-3711
Exon 39 Silent 3715A>G c.3513A>G p.= Benign Barker (2001)
In benign haplotype: G365G I444S L685L Q1171Q D1425D. Does not always segregate with disease
Exon 39 Deletion 3729delG c.3527del p.Gly1176fs Pathogenic Martin (1998)
Alport syndrome . Truncated protein
Exon 39 Missense never used c.3535G>A p.Gly1179Arg Pathogenic Nagel (2005)
Alport Syndrome
Exon 39 Nonsense 3740C>T c.3538C>T p.Gln1180X Pathogenic Knebelmann (1996)
Alport syndrome; Protein Truncation
Exon 39 Deletion 3745_3751
delGGGTGAA
c.3543_3549del p.Lys1181fs Pathogenic Renieri (1996)
Alport syndrome. Truncated protein
Exon 39 Missense 3746G>C c.3544G>C p.Gly1182Arg Pathogenic Kawai (1996)
Alport Syndrome
Intron 39 Splice Site 3756-9C>G c.3554-9C>G p.? Pathogenic Martin (1998)
Alport syndrome
Intron 39 Splice Site 3756-3C>G c.3554-3C>G p.? Pathogenic Martin (1998)
Alport syndrome. Late onset age at ESRD 33
Intron 39 Splice Site 3756-1G>A c.3554-1G>A p.? Pathogenic Knebelmann (1996)
Alport Syndrome
Exon 40 Deletion never used c.3554-?_3604+?del p.? Pathogenic Lemmink (1997)
Alport syndrome.Truncated protein
Exon 40 Silent 3784G>A c.3582C>T p.= Benign Inoue (1999)
Suspected polymorphism
Exon 40 Missense 3788G>A c.3586G>A p.Gly1196Arg Pathogenic Martin (1998)
Alport syndrome
Exon 40 Missense never used c.3587G>A p.Gly1196Glu Pathogenic Bekheirnia (2010)
Alport syndrome
Intron 40 Splice Site never used c.3604+3A>T p.? Pathogenic Nagel (2005)
Alport syndrome. Mutations affecting the less conserved parts of the acceptor splice signal. Published as T>A in original paper
Intron 40 Splice Site 3807-3A>T c.3605-3A>T p.? Pathogenic Knebelmann (1996)
Alport Syndrome
Intron 40 Splice Site 3807-2A>G c.3605-2A>G p.? Pathogenic Gross (2002)
Alport Syndrome; hearing loss; AgGCC>tgGCC
Intron 40 Splice Site 3807-1G>A c.3605-1G>A p.? Pathogenic Knebelmann (1996)
Alport Syndrome
Exon 41-51 Large Deletion never used c.3605-?_5058+?del p.? Pathogenic Plant (1999)
Alport syndrome ~450kb deleted no C-term
Exon 41 Missense 3815G>T c.3613G>T p.Gly1205Cys Pathogenic Knebelmann (1996)
Alport syndrome truncated protein
Exon 41 Missense never used c.3613G>A p.Gly1205Ser Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 41 Deletion 3820_3824delTGGA c.3618_3622del p.Asp1206fs Pathogenic Renieri (1996)
Alport syndrome. Truncated protein; 1206fs
Exon 41 Missense 3833G>C c.3631G>C p.Gly1211Arg Pathogenic Plant (1999)
Alport syndrome
Exon 41 Missense 3834G>A c.3632G>A p.Gly1211Glu Pathogenic Knebelmann (1996)
Alport syndrome- This mutation was detected on the same allele than p.G953V
Exon 41 Missense never used c.3641G>A p.Gly1214Glu Pathogenic Nagel (2005)
Alport Syndrome
Exon 41 Deletion 3849delC c.3647del p.Pro1216fs Pathogenic Knebelmann (1996)
Alport syndrome; Protein Truncation
Exon 41 Deletion 3859_3930del c.3657_3728del p.Gly1220_Pro1243del Pathogenic Hertz (2001)
Alport Syndrome. 24 amino acids deleted in exon 41
Exon 41 Missense 3861G>A c.3659G>A p.Gly1220Asp Pathogenic Plant (1999)
Alport syndrome
Exon 41 Missense never used c.3668G>T p.Gly1223Val Pathogenic Nagel (2005)
Alport Syndrome
Exon 41 Missense never used c.3686G>A p.Gly1229Asp Pathogenic Cheong (2000)
Alport syndrome. was reported as G1229N and c.3686G>A- adult type (Cheong 2000) ESRD at 33 (Bekheirnia 2010).
Exon 41 Deletion 3894delC c.3692del p.Pro1231fs Pathogenic Knebelmann (1996)
Alport syndrome; Protein Truncation
Exon 41 Insertion c.3894insC c.3692dup p.Gly1232fs Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 41 Missense 3896G>A c.3694G>A p.Gly1232Ser Pathogenic Wang (2005)
Alport syndrome. Interrupts continuous Gly-X-Y
Exon 41 Nonsense never used c.3700C>T p.Gln1234X Pathogenic Pont-Kingdon (2009)
Alport syndrome. Late onset Age at ESRD 42
Exon 41 Indel c.3908_3924delinsT c.3706_3722delinsT p.Pro1236fs Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 41 Deletion 3912del52 c.3710_3761del p.Pro1237fs Pathogenic Kawai (1996)
Alport Syndrome truncated protein
Exon 41 Insertion 3912_3913insCC c.3709_3710dup p.Gly1238fs Pathogenic Plant (1999)
Alport syndrome.
Exon 41 Missense 3923 G>T c.3721G>T p.Gly1241Cys Pathogenic Lemmink (1997)
Alport syndrome. De novo mutation
Exon 41 Missense never used c.3722G>T p.Gly1241Val Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 41 Missense 3933G>A c.3731G>A p.Gly1244Asp Pathogenic Barker (2001)
Alport syndrome. Reported as late onset. ESRD at 49.5 years in Pont-Kingdon et al 2009.
Exon 41 Missense 3956G>A c.3754G>A p.Gly1252Ser Pathogenic Knebelmann (1996)
Alport syndrome. Late onset ESRD (35 year)
Exon 41 Insertion 3959_3960insGGCA c.3754_3757dup p.Asn1253fs Pathogenic Kawai (1996)
Alport Syndrome truncated protein
Exon 41 Missense 3965G>A c.3763G>A p.Gly1255Arg Pathogenic Hertz (2001)
Alport Syndrome
Exon 41 Missense 3984G>A c.3782G>A p.Gly1261Glu Pathogenic Martin (1998)
Alport syndrome
Intron 41 Splice Site 3992+1delG c.3790+1delG p.? Pathogenic Knebelmann (1996)
Alport Syndrome
Exon 42-47 Large Deletion never used c.3791-?_4510+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. del 15kb at end of protein (3 prime).
Exon 42 Missense 4010G>A c.3808G>A p.Gly1270Ser Pathogenic Hertz (2001)
Alport Syndrome late onset (age at ESRD in male 37-39)
Exon 42 Deletion 4016delC c.3815del p.Pro1272fs Pathogenic Renieri (1996)
Alport syndrome. Truncated protein; 1272fs
Exon 42 Indel never used c.3837_3845del;3854insA p.? Pathogenic Zhang (2011)
Alport syndrome. Complex mutation unknown effect on protein
Exon 42 Insertion never used c.3866_3869dup p.? Pathogenic Tazon-Vega (2007)
Alport syndrome. Creates frameshift and early termination
Exon 42 Deletion 4122delT c.3920del p.Leu1307fs Pathogenic Knebelmann (1996)
Alport syndrome; Protein Truncation
Exon 42 Missense never used c.3924G>C p.Gln1308His Pathogenic Bekheirnia (2010)
Alport syndrome
Intron 42 Splice Site 4126+1G>C c.3924+1G>C p.? Pathogenic Cruz-Robles (1999)
Alport syndrome. Observed in Female. Possible adult type mutation
Intron 42 Splice Site never used c.3925-2A>G p.? Pathogenic Nagel (2005)
Alport syndrome. mutation in donor splice signal
Intron 42 Splice Site 4127-1G>A c.3925-1G>A p.? Pathogenic Plant (1999)
Alport syndrome. Tazon-Vega (2007) showed that 3' splice signal inactivated and exon 44 skipped (in frame).
Exon 43-44 Large Deletion never used c.3925-?_4069+?del p.? Pathogenic Barker (2001)
Alport syndrome
Exon 43 Nonsense never used c.3958A>T p.Lys1320X Pathogenic Minucci (2007)
Alport syndrome; Protein Truncation
Exon 43 Deletion 4194delT c.3992del p.Phe1331fs Pathogenic Renieri (1996)
Alport syndrome. Truncated protein; 1331fs
Exon 43 Missense 4199G>A c.3997G>A p.Gly1333Ser Pathogenic Plant (1999)
Alport syndrome
Intron 43 Splice Site never used c.3998-2A>T p.? Pathogenic Krol (2008)
Alport syndrome. 3 prime splice signal. Reported with a mild phenotype in a mosaic case.
Intron 43 Splice Site 4200-2A>G c.3998-2A>G p.? Pathogenic Renieri (1996)
Alport syndrome. 3 splice signal inactivated skips exon 44.
Exon 44 Nonsense never used c.4006G>T p.Gly1336X Pathogenic Tan (2010)
Alport syndrome
Exon 44 Deletion 4245del6 4241G>A c.4043del6; 4039G>A p.Pro1350_Gly1351del; p.Gly1348Glu Pathogenic Renieri (1996)
Alport syndrome. interrupts continuous Gly-X-Y. Originally reported as DelPG1350-1351/G1348E
Exon 44 Missense 4271G>A c.4069G>A p.Gly1357Ser Pathogenic Martin (1998)
Alport syndrome
Intron 44 Splice Site 4271+1G>A c.4069+1G>A p.? Pathogenic Plant (1999)
Alport syndrome
Exon 45-51 Large Deletion never used c.4070-?_5058+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. del 450kb from end of protein (3 prime).
Exon 45 Deletion 4273delT c.4071del p.Pro1358fs Pathogenic Knebelmann (1996)
Alport syndrome; Protein Truncation
Exon 45 Deletion 4304_4305delAG c.4102_4103del p.Ser1368fs Pathogenic Plant (1999)
Alport syndrome
Exon 45 Missense 4338G>T c.4136G>T p.Gly1379Val Pathogenic Renieri (1996)
Alport syndrome. Interrupts continuous Gly-X-Y
Exon 45 Nonsense never used c.4147C>T p.Gln1383X Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 45 Insertion 4363_4364insTCCT c.4161_4162insTCCT p.Gly1388fs Pathogenic Renieri (1996)
Alport syndrome. De novo insertion of TCCT Truncated protein; 1388fs
Exon 45 Nonsense never used c.4171G>T p.Gly1391X Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 45 Nonsense 4379C>T c.4177C>T p.Gln1393X Pathogenic Inoue (1999)
Alport syndrome
Exon 45 Deletion c.4379delC c.4177del p.Gln1393fs Pathogenic Pont-Kingdon (2009)
Alport syndrome. Reported in 2 individuals. Age of ESRD 35 and 42
Exon 45 Insertion 4398_4399insC c.4196dup p.Gly1400fs Pathogenic Gross (2002)
Alport Syndrome frameshift
Intron 45 Splice Site 4401-1G>A c.4199-1G>A p.? Pathogenic Gross (2002)
Alport Syndrome. AgGTC>aaGTC
Exon 46-47 Indel ins10-15kb; del25kb ins10-15kb (intron 46);
del25kb
p.? Pathogenic Lemmink (1997)
Alport syndrome. ins10-15kb;exon 46/47; del25kb. Aberrant protein.
Exon 46-51 Large Deletion never used c.4199-?_5058+?del p.? Pathogenic King (2006)
Alport syndrome
Exon 46 Insertion 4416insC c.4214dup p.Gly1406fs Pathogenic Ermisch (2000)
Alport syndrome; Ermisch reported this insertion as c.4498insC
Exon 46 Missense 4430C>T c.4228C>T p.Arg1410Cys Uncertain Renieri (1996)
Alport syndrome. 0.015% in ESP 0.008% in ExAc (comprising two hemizygous in South Asian)
Exon 46 Deletion never used c.4235del p.Gly1412fs Pathogenic Ma (2011)
Alport Syndrome
Exon 46 Silent 4441C>T c.4239C>T p.= Benign Kawai (1996)
Found in patient with Alport but expected to be a polymorphism
Exon 46 Indel 4455_4464del
dup4465_4482
c.4253_4262del;
4263_4280dup
p.Gly1420fs Pathogenic Hertz (2001)
Alport Syndrome Protein truncation. Reported as fs in exon 48
Exon 46 Missense 4463G>T c.4261G>T p.Gly1421Trp Pathogenic Renieri (1996)
Alport syndrome. Late onset at ESRD (33 years)
Exon 46 Missense never used c.4271G>A p.Gly1424Glu Pathogenic Zhang (2011)
Alport syndrome.
Exon 46 Silent 4477C>T c.4275C>T p.= Benign Barker (2001)
In benign haplotype: G365G I444S L685L Q1171Q D1425D. Does not always segregate with disease
Exon 46 Missense never used c.4279G>T p.Gly1427Cys Pathogenic Nagel (2005)
Alport Syndrome
Exon 46 Missense never used c.4280G>C p.Gly1427Ala Pathogenic Ma (2011)
Alport syndrome.
Exon 46 Missense 4482G>T c.4280G>T p.Gly1427Val Pathogenic Plant (1999)
Alport syndrome. Late onset ESRD (36 years)
Intron 46 Splice Site 4499+1G>A c.4297+1G>A p.? Pathogenic Wang (2005)
Affected Individual. del Exon 46
Intron 46 Splice Site 4500-1G>C c.4298-1G>C p.? Pathogenic Barker (2001)
Alport Syndrome. Skipping of exon 47
Exon 47 Missense never used c.4298G>T p.Gly1433Val Pathogenic Ma (2011)
Alport Syndrome.
Exon 47-51 Large Deletion never used c.4298-?_5058+?del p.? Pathogenic Nagel (2005)
Alport syndrome; Originally documented as IVS46_IVS51 (larger than 10 kb)
Exon 47 Insertion 4517_4552dup
GGTCCCCCTGGTCC
AGATGGATTGCAAGGT
CCCCCA
c.4315_4350dup p.Gly1439_Pro1450dup Pathogenic Renieri (1996)
Alport syndrome. chain elongation; dup 12 amino acid from G1439
Exon 47 Missense 4526G>C c.4324G>C p.Gly1442Arg Pathogenic King (2006)
Alport Syndrome
Exon 47 Missense never used c.4325G>C p.Gly1442Ala Pathogenic Hopker (2009)
Alport Syndrome. Associated with Atypical or mild phenotype. Mutation was originally reported as p.G1442A c. 4235G>C. Nucleotide position corrected to c. 4325G>C by the authors (erratum in Clin Nephrol 2010 73(2):172
Exon 47 Missense 4527G>A c.4325G>A p.Gly1442Asp Pathogenic Plant (1999)
Alport syndrome
Exon 47 Deletion never used c.4329_4355del p.Asp1444_Pro1452del Pathogenic Tazon-Vega (2007)
Alport Syndrome. In frame deletion
Exon 47 Missense 4544G>A c.4342G>A p.Gly1448Ser Pathogenic Wang (2005)
Alport syndrome. Interrupts continuous Gly-X-Y
Exon 47 Insertion 4546_4547insT c.4344dup p.Pro1449fs Pathogenic Renieri (1996)
Alport syndrome. De novo insertion of T. truncated protein; 1449fs
Exon 47 Deletion never used c.4349del p.Pro1450fs Pathogenic Nagel (2005)
Alport syndrome; Originally documented as c.4345delC
Exon 47 Missense 4553G>A c.4351G>A p.Gly1451Ser Pathogenic Lemmink (1997)
Alport syndrome
Exon 47 Deletion 4638_4639delGA c.4436_4437del p.Gly1479fs Pathogenic Hertz (2001)
Alport Syndrome Protein truncation
Exon 47 Deletion 4639delA c.4437del p.Gly1479fs Pathogenic Plant (1999)
Alport syndrome. Originally documented as fs 1480 stop+68
Exon 47 Missense never used c.4439C>G p.Thr1480Arg Pathogenic Ma (2011)
Alport syndrome. Late onser at ESRD (49 years)
Exon 47 Missense 4659G>C c.4457G>C p.Gly1486Ala Pathogenic Plant (1999)
Alport syndrome. Late onser at ESRD (49 years)
Exon 47 Missense 4665C>T c.4463C>T p.Ser1488Phe Pathogenic Knebelmann (1996)
Alport syndrome mutation in NC1 domain
Exon 47 Deletion 4693delAG c.4491_4492del p.Arg1497fs Pathogenic Inoue (1999)
Alport syndrome
Exon 47 Missense 4686C>A c.4493C>A p.Ala1498Asp Pathogenic Lemmink (1997)
Alport syndrome. Late onser at ESRD (37 years). Reported as 4686C>A (instead of 4695 or 4493 after removal of the 202 nt of the 5'UTR)
Exon 47 Nonsense never used c.4501C>T p.Gln1501X Pathogenic Bekheirnia (2010)
Alport syndrome
Intron 47 Indel ins10-15kb (intron 47);
del ~40 kb 3' to COL4A5
ins10-15kb (intron 47);
del ~40 kb 3' to COL4A5
p.? Pathogenic Plant (1999)
Alport syndrome
Intron 47 Splice Site 4712+1G>C c.4510+1G>C p.? Pathogenic Kawai (1996)
Alport Syndrome. Donor splice site
Exon 48 Deletion c.4715delA c.4513del p.Thr1505fs Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 48 Indel never used c.4514_4529
delinsTTTCATCT
p.Thr1505fs Pathogenic Nagel (2005)
Alport Syndrome. Truncated protein
Exon 48 Missense never used c.4532G>A p.Arg1511His Uncertain Cheong (2000)
Alport syndrome. Pathogenecity of mutation not established. (psoradic case). Also reported by Plant 1999. 0.002% in ExAc
Exon 48 Missense 4751C>A c.4549C>A p.Pro1517Thr Uncertain Renieri (1996)
Described in individuals with Alport Syndrome but has a frequency of 0.024% in ExAC comprisimg 9 hemizygotes. The Proline at 1517 is well conserved and computational programs predict the variant to be deleterious.
Exon 48 Nonsense 4765C>A c.4563C>A p.Cys1521X Pathogenic Hertz (2001)
Alport Syndrome
Exon 48 Missense 4815G>C c.4613G>C p.Trp1538Ser Pathogenic Lemmink (1997)
Alport syndrome. Late onset at ESRD (33)
Exon 48 Nonsense 4816G>A c.4614G>A p.Trp1538X Pathogenic Knebelmann (1996)
Alport syndrome; Protein Truncation
Exon 48 Missense 4877C>G c.4675C>G p.Pro1559Ala Benign Plant (1999)
Does not associate with disease. Reported as 4777C>G P1559A originaly.
Exon 48 Deletion c.4887_4890del4 c.4685del4 p.Ser1562fs Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 48 Nonsense 4889C>T c.4687C>T p.Arg1563X Pathogenic Knebelmann (1996)
Alport syndrome; Protein Truncation. De novo mutation
Exon 48 Missense 4890G>A c.4688G>A p.Arg1563Gln Pathogenic Gross (2002)
Alport Syndrome. Classified as unknown by Plant 1999. Weakened splice site (5 prime) exon 48 skipped creating frameshift. Described as late onset in Pont-Kingdon et al 2009.
Intron 48 Indel c.4891-30del22insCA c.4689-30_4689-9
delinsCA
p.? Pathogenic Bekheirnia (2010)
Alport syndrome. Originally reported as c.4892-30 instead of 4891-30
Exon 49 Splice Site 4891-3del32 c.4689-3_4717del p.? Pathogenic Kawai (1996)
Alport Syndrome donor splice site
Exon 49-51 Large Deletion never used c.4689-?_5058+?del p.? Pathogenic Lemmink (1997)
Alport syndrome. del 10kb truncated protein
Exon 49 Missense never used c.4690T>C p.Cys1564Arg Pathogenic Pont-Kingdon (2009)
Alport syndrome. Late onset Age at ESRD 33
Exon 49 Missense 4893G>C c.4691G>C p.Cys1564Ser Pathogenic Zhou (1991)
Late onset Alport syndrome. Observed in one large kindred in the US. Could account for 40% adult type AS.
Exon 49 Missense 4901T>C c.4699T>C p.Cys1567Arg Pathogenic Knebelmann (1996)
Alport syndrome. NC1 domain. De novo mutation
Exon 49 Missense never used c.4702G>A p.Glu1568Gln Pathogenic Tan (2010)
Alport syndrome
Exon 49 Deletion 4952_4958del7 c.4750_4756del p.Pro1584fs Pathogenic Plant (1999)
Alport syndrome. Originally documented as fs stop+15. late onset ESRD at 38
Exon 49 Missense never used c.4751C>T p.Pro1584Leu Pathogenic Pont-Kingdon (2009)
Alport syndrome. Late onset Age at ESRD 34.5
Exon 49 Missense 4958T>C c.4756T>C p.Cys1586Arg Pathogenic Hertz (2001)
Alport Syndrome
Exon 49 Missense 4959G>T c.4757G>T p.Cys1586Phe Pathogenic Wang (2005)
Affected Individual
Exon 49 Missense 4970T>G c.4768T>G p.Trp1590Gly Pathogenic King (2006)
Alport Syndrome
Exon 49 Deletion never used c.4780_4781del p.Trp1594fs Pathogenic Ma (2011)
Alport Syndrome
Exon 49 Missense 4989G>A c.4787G>A p.Gly1596Asp Pathogenic Renieri (1996)
Alport syndrome. Conserved aa of NC
Exon 49 Missense 4968G>T c.4766G>T p.Gly1589Val Pathogenic King (2006)
Alport Syndrome. This mutation was labeled as a cryptic splice site activator.
Exon 49 Missense 4992A>G c.4790A>G p.Tyr1597Cys Pathogenic Gross (2002)
Alport syndrome . Late onset. Age at ESRD 31
Exon 49 Nonsense 4993T>A c.4791T>A p.Tyr1597X Pathogenic Martin (1998)
Alport syndrome . Truncated protein
Exon 49 Missense 5005G>A c.4803G>A p.Met1601Ile Pathogenic Plant (1999)
Alport syndrome. Skips E49 resulting in frameshift
Intron 49 Splice Site 5005+1ins10 c.4803+1ins10 p.? Pathogenic Lemmink (1997)
Alport Syndrome
Intron 49 Splice Site 5005+1G>A c.4803+1G>A p.? Pathogenic Knebelmann (1996)
Alport Syndrome. Late onset. Mean age at ESRD: 40
Intron 49 Splice Site 5005+121T>C c.4803+121T>C p.? Pathogenic Shimizu (2006)
Alport syndrome. cDNA and protein analysis. Found in same patient as c.4804-151_150insT. Creates retention of intron 49 causing in frame stop codon. Originally described as c4821+121T>C using a cDNA sequence with 18 additional nt (NM_033380)
Intron 49 Splice Site 5006-151_150insT c.4804-151_4804-150insT p.? Pathogenic Shimizu (2006)
Alport syndrome. cDNA and protein analysis. Found in same patient as c.4803+121T>C. Creates retention of intron 49 causing in frame stop codon Originally described as c.4822-151_150insT using a cDNA sequence with 18 additional nt (NM_033380)
Exon 50 Deletion 5034delG c.4832del p.Gly1611fs Pathogenic Renieri (1996)
Alport syndrome. truncated protein;1611fs. Initially reported as 5033delG
Exon 50 Missense never used c.4894T>G p.Cys1632Gly Pathogenic Bekheirnia (2010)
Alport syndrome. Reported as Cys1632Ser
Exon 50 Missense 5115G>A c.4913G>A p.Cys1638Tyr Pathogenic Wilson (2007)
Late onset Alport syndrome. No extra renal manifestation
Exon 50 Insertion never used c.4942dup p.Trp1648fs Pathogenic Ma (2011)
Alport syndrome
Exon 50 Missense 5148T>G c.4946T>G p.Leu1649Arg Pathogenic Barker (1996)
Adult onset AS 22 kindred in the in the US. 50% adult onset Alport Symdrome in the US. 0.001% in ExAc
Exon 50 Deletion 5170 delC c.4968del p.Asp1656fs Pathogenic Inoue (1999)
Alport Syndrome.
Exon 50 Missense 5178G>A c.4976G>A p.Ser1659Asn Pathogenic Knebelmann (1996)
Alport Syndrome. Possible effect on intron 50 splicing
Intron 50 Splice Site c.5179-2A>G c.4977-2A>G p.? Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 51 Deletion 5196_5203del8 c.4994_5001del p.Thr1665fs Pathogenic Plant (1999)
Protein truncation; Originally Documented as fs 1665 stop+9
Exon 51 Nonsense never used c.5020C>T p.Arg1674X Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 51 Nonsense 5231C>T c.5029C>T p.Arg1677X Pathogenic Martin (1998)
Alport syndrome. Truncated protein. Found in several unrelated patients
Exon 51 Missense 5232G>A c.5030G>A p.Arg1677Gln Pathogenic Barker (1997)
Adult onset AS found in 3 Ashkenazi Jewish famillies 5% adult onset Alport Symdrome in the US. 0.002 in ExAc
Exon 51 Missense 5232G>C c.5030G>C p.Arg1677Pro Pathogenic Barker (2001)
Alport syndrome. Reported as late onset (ESRD at 37.5 years) in Pont-Kingdon et al 2009.
Exon 51 Missense never used c.5030G>T p.Arg1677Leu Pathogenic Ma (2011)
Alport Syndrome
Exon 51 Missense 5234T>C c.5032T>C p.Cys1678Arg Pathogenic Gross (2002)
Alport Syndrome
Exon 51 Deletion 5236delT c.5034del p.Gln1679fs Pathogenic Martin (2000)
Alport syndrome. Truncated protein
Exon 51 Missense 5236T>G c.5034T>G p.Cys1678Trp Pathogenic Inoue (1999)
Alport Syndrome
Exon 51 Missense 5244G>T c.5042G>T p.Cys1681Phe Pathogenic Wang (2005)
Affected Individual
3'UTR Insertion c.5309_5310insA c.5058+48*dup p.? Uncertain Bekheirnia (2010)
Affected individual. Variant of uncertain significance
Exon 04 Missense never used c.262C>T p.Pro88Ser Uncertain Wang (2012)
Alport syndrome. 0.123% in East Asian (ExAc data base)
Exon 06 Missense never used c.367G>A p.Gly123Arg Pathogenic Wang (2012)
Alport syndrome
Exon 12 Missense never used c.647G>A p.Gly216Glu Pathogenic Wang (2012)
Alport syndrome
Exon 13 Missense never used c.715G>A p.Gly239Arg Pathogenic Wang (2012)
Alport syndrome
Exon 17 Missense never used c.965G>A p.Gly322Asp Pathogenic Wang (2012)
Alport syndrome
Exon 23 Missense never used c.1579G>A p.Gly527Arg Pathogenic Wang (2012)
Alport syndrome
Exon 25 Missense never used c.1843G>C p.Gly615Arg Pathogenic Wang (2012)
Alport syndrome
Exon 25 Missense never used c.1913G>A p.Gly638Asp Pathogenic Wang (2012)
Alport syndrome
Exon 25 Missense never used c.1948G>A p.Gly650Ser Pathogenic Wang (2012)
Last nt of Exon 25. Splicing might be affected
Exon 27 Missense never used c.2095G>A p.Gly699Arg Pathogenic Wang (2012)
Alport syndrome
Exon 28 Missense never used c.2156G>T p.Gly719Val Pathogenic Wang (2012)
Alport syndrome
Exon 28 Missense never used c.2215C>G p.Pro739Ala Uncertain Wang (2012)
rs104886164- frequency of 0.5% (1000 Genome) predicted tolerated by polyphen (0.11) and begign (0.338) by PolyPhen2. 0.28% in ExAc
Exon 32 Missense never used c.2705G>A p.Gly902Glu Pathogenic Wang (2012)
Alport syndrome
Exon 32 Missense never used c.2714G>A p.Gly905Asp Pathogenic Wang (2012)
Alport syndrome
Exon 39 Missense never used c.3526G>A p.Gly1176Arg Pathogenic Wang (2012)
Alport syndrome
Exon 41 Missense never used c.3650G>A p.Gly1217Asp Pathogenic Wang (2012)
Alport syndrome
Exon 41 Missense never used c.3668G>A p.Gly1223Asp Pathogenic Wang (2012)
Alport syndrome
Exon 41 Missense never used c.3685G>A p.Gly1229Ser Pathogenic Wang (2012)
Alport syndrome
Exon 44 Missense never used c.4024G>A p.Gly1342Arg Pathogenic Wang (2012)
Alport syndrome
Exon 47 Missense never used c.4427G>T p.Cys1476Phe Pathogenic Wang (2012)
Alport syndrome
Exon 49 Missense never used c.4700G>C p.CYs1567Ser Pathogenic Wang (2012)
Alport syndrome
Exon 50 Missense never used c.4862T>C p.Leu1621Ser Pathogenic Wang (2012)
Alport syndrome
Exon 51 Missense never used c.5036A>C p.Gln1679Pro Pathogenic Wang (2012)
Alport syndrome
Exon 29 Missense (or splice site) never used c.2387G>T p.Gly796Val (or p.?) Pathogenic Wang (2012)
Position -9 inside exon 29. Deletion of exon 29 sequences observed in mRNA (r.2245_2395del) in skin biopsy
Exon 06 Splice Site never used c.384G>A p.Gly108-Lys128del Pathogenic Wang (2012)
Mutation of donor splice site. Deletion of exon 6 observed on cDNA in skin biopsy
Exon 29 Missense (or splice site) never used c.2306G>T p.Gly769Val (or p.?) Pathogenic Wang (2012)
At position + 61 nt in exon 29. In cDNA from skin biopsy deletion of exon 29 and insertion of intron 30 sequences 3' of exon 30.
Exon 31 Missense (or splice site) never used c.2677G>A p.Gly893Ser (or p.?) Pathogenic Wang (2012)
Mutation of donor splice site. Deletion of 18 nt in exon 31 (r.2660_2677del) observed in cDNA from skin biopsy.
Exon 45 Splice site never used c.4198_4198+1del p.? Pathogenic Wang (2012)
Deletion donor site Exon 45/Intron 45. In skin biopsy cDNA analysis shows 4198_4198+1del and insertion 71 nt of intron 45
intron 04 Splice site never used c.276+5G>T p.Gly78_Arg92 del Pathogenic Wang (2012)
deletion exon 4 sequence observed on cDNA in skin biopsy
Intron 12 Splice site never used c.687+2T>C p.Gly216_Lys229del Pathogenic Wang (2012)
In skin biopsy deletion exon 12 sequence observed on cDNA
Intron 14 Splice site never used c.834+5G>A p.Gly261_Pro278del Pathogenic Wang (2012)
Deletion exon 14 sequences observed on cDNA in skin biopsy
Intron 19 Splice site never used c.1166-1G>A p.Ala390fs Pathogenic Wang (2012)
In skin biopsy deletion of G at position 1166 in c.DNA.
Intron 24 Splice Site never used c.1779+1G>A p.? Pathogenic Wang (2012)
In skin biopsy no data on mRNA changes
Intron 25 Splice Site never used c.1949-2A>G p.Lys664_Gly669del Pathogenic Wang (2012)
cDNA analysis shows an in frame deletion of 18 nt in exon 26 (r.1990_2007 del) in skin biopsy. The predicted protein has a deletion of 6 amino acids
Intron 47 Splice Site never used c.4511-345A>G p.Gly1504fs Pathogenic Wang (2012)
An insertion at c.4510 was observed in cDNA sequences from skin biopsy.Originaly named g.4712+4709A>G. Reported as c.4510+4709 (HGMD)
Intron 48 Splice Site never used c.4688+4A>T p.Gly1504fs Pathogenic Wang (2012)
cDNA from In skin biopsy shows deletion of exon 48 resulting in frameshifting at Gly 1504
Exon 02 Nonsense never used c.107C>G p.Ser36X Pathogenic Wang (2012)
Alport syndrome
Exon 09 Nonsense never used c.544C>T p.Gln182X Pathogenic Wang (2012)
Alport syndrome
Exon 31 Nonsense never used c.2632G>T p.Gly878X Pathogenic Wang (2012)
Alport syndrome
Exon 49 Nonsense never used c.4782G>A p.Trp1594X Pathogenic Wang (2012)
Alport syndrome
Exon 15 Deletion never used c.863del p.Lys288fs Pathogenic Wang (2012)
Originaly reported as r.862 or 863dela
Exon 22 Insertion never used c.1442dup p.Cys481fs Pathogenic Wang (2012)
Originaly reported as r.1441_1443insG reported as c.1440_1441insG (HGMD)
Exon 26 Deletion never used c.1992_2009del p.Lys664_Gly669del Pathogenic Wang (2012)
Alport syndrome
Exon 41 Deletion never used c.3746del p.GLy1249fs Pathogenic Wang (2012)
Originaly reported as 3745_3746delg
Exon 45 Deletion never used c.4184del p.Pro1395fs Pathogenic Wang (2012)
Originaly reported as 4183delc
Exon 47 Insertion never used c.4401_4402dup p.Ser1468fs Pathogenic Wang (2012)
Originaly reported as 4398_4399insCA
Exon 49 Deletion never used c.4695del p.Val1566fs Pathogenic Wang (2012)
Alport Syndrome
Exon 06 Indel never used c.359_363delinsATAC p.Gly120fs Pathogenic Wang (2013)
Mutation presente in a familly with only renal disease
Exon 06 Missense never used c.368G>A p.Gly123Glu Pathogenic Guo (2014)
Alport Syndrome. Average age ESRD >30. No ocular or hearing abnormalities in patients. Gly123 occurs prior to Gly-X-Y repeats
Exon 45 Missense never used c.4078G>C p.Gly1360Arg Pathogenic personal communication
Alport syndrome. Familly history. Hematuria proteinurea and hearing loss
Exon 01 Missense never used c.2T>A p.? Pathogenic Fallerini (2014)
Alport syndrome
Exon 03 Missense never used c.152G>T p.Gly51Val Pathogenic Fallerini (2014)
Alport syndrome
Exon 07 Missense never used c.412G>A p.Gly138Ser Pathogenic Fallerini (2014)
Alport syndrome
Exon 13 Missense never used c.698G>T p.Gly233Val Pathogenic Fallerini (2014)
Alport syndrome
Exon 14 Insertion never used c.801dup p.Pro268fs Pathogenic Fallerini (2014)
Alport syndrome
Exon 19 Missense never used c.1075G>A p.Gly359Arg Pathogenic Fallerini (2014)
Alport syndrome
Exon 23 Missense never used c.1526G>A p.Gly509Asp Pathogenic Fallerini (2014)
Alport syndrome
Exon 25 Missense never used c.1862G>T p.Gly621Val Pathogenic Fallerini (2014)
Alport syndrome
Exon 27 Missense never used c.2077G>A p.Gly693Arg Pathogenic Fallerini (2014)
Alport syndrome
Exon 28 Missense never used c.2237G>A p.Gly746Glu Pathogenic Fallerini (2014)
Alport syndrome
Exon 30 Missense never used c.2482G>A p.Gly828Arg Pathogenic Fallerini (2014)
Alport syndrome
Exon 31 Missense never used c.2546G>A p.Gly849Glu Pathogenic Fallerini (2014)
Alport syndrome
Exon 33 Deletion never used c.2831del p.Gly944fs Pathogenic Fallerini (2014)
Alport syndrome
Intron 36 Splice Site never used c.3246+1G>A p.? Pathogenic Fallerini (2014)
Alport syndrome
Exon 41 Missense never used c.3721G>C p.Gly1241Arg Pathogenic Fallerini (2014)
Alport syndrome
Exon 49 Insertion never used c.4749dup p.Pro1584fs Pathogenic Fallerini (2014)
Alport syndrome
Intron 49 Splice Site never used c.4804-2A>C p.? Pathogenic Fallerini (2014)
Alport syndrome
Exon 50 Missense never used c.4896T>G p.Cys1632Trp Likely Pathogenic Fallerini (2014)
Alport syndrome
Intron 50 Splice site never used c.4976+3A>G p.? Uncertain Fallerini (2014)
Alport syndrome. Observed in Alport Patient. A and G are equally found in position +3 and slpice site prediction failed to predict effect on splicing (note added by database currator)
Intron 06 Splice Site never used c.384+1G>A p.? Pathogenic Mohammad (2014)
Alport Syndrome. Found in female compound heterozygous with c 2677G>C. Might be adult onset.
Exon 31 Missense never used c.2677G>C p.Gly893Arg Pathogenic Mohammad (2014)
Alport Syndrome. Found in female compound heterozygous with c.384+1G>A. Might be adult onset.
Intron 29 Slpice site never used c.2396-1G>A p.? Pathogenic Beicht (2013)
Alport syndrome. Found in female mosaic
Exon 08 Missense never used c.458G>A p.Gly153Asp Pathogenic Bekheirnia (2010)
Alport syndrome
Exon 18 Missense never used c.1009G>A p.Gly337Ser Pathogenic Nabai Sa (2014)
Alport syndrome
Exon 25 Missense never used c.1844G>A p.Gly615Glu Pathogenic Nabai Sa (2014)
Alport syndrome
Exon 47 Missense never used c.4342G>C p.Gly1448Arg Pathogenic Nabai Sa (2014)
Alport syndrome- in 2 famillies
Exon 33 Nonsense never used c.2815G>T p.Glu939X Pathogenic Nabai Sa (2014)
Alport syndrome
Intron 20 Splice site never used c.1339+6C>G p.? Pathogenic Nabai Sa (2014)
Alport syndrome
Exon 10 Deletion never used c.590delC p.Pro197fs Pathogenic Nabai Sa (2014)
Alport syndrome
Exon 30 Deletion never used c.2423del p.Gly808fs Pathogenic Nabai Sa (2014)
Alport syndrome
Intron 30 Splice site never used c.2510-1_2525del p.? Pathogenic Nabai Sa (2014)
Alport syndrome
Exon 01-13 Large Deletion never used c.1-?_780+?del p.? Pathogenic Nabai Sa (2014)
Alport syndrome
Exon 02-29 Large Deletion never used c.82-?_2325+?del p.? Pathogenic Nabai Sa (2014)
Alport syndrome
Exon 02-51 Large Deletion never used c.82-?_5058+?del p.? Pathogenic Nabai Sa (2014)
Alport syndrome
Exon 31 Large Deletion never used c.2510-1_2554del p.His839_Leu853del Pathogenic Nabai Sa (2014)
Alport syndrome
Exon 43-45 Large Deletion never used c.3925-?_4198+?del p.? Pathogenic Nabai Sa (2014)
Alport syndrome
Exon 01-02 Large Deletion never used c.1-?_141+?del p.? Pathogenic Moriniere (2014)
Alport syndrome. Deletion extends to COL4A6
Exon 20 Missense 1491C>A c.1289C>A p.Ala430Asp Benign Knebelmann (1996)
Non-conserved amino acid 0.7% in EA in ESP (with 13 hemizygous). 0.4% in ExAc.
Exon 02-22 Large Deletion never used c.82-?_1516+?del p.? Pathogenic Moriniere (2014)
Alport syndrome
Exon 25 Missense 2057C>T c.1855C>T p.Pro619Ser Likely Benign Knebelmann (1996)
Non-conserved amino acid
Exon 05 Insertion never used c.321+1_321+2dup p.? Pathogenic Moriniere (2014)
Alport syndrome. Originally published as c.321_321+1dup (p.G108Wfs). The mutation is predicted to displace the donor slicing site by 2 nucleotides creating a frameshift.
Exon 17 Missense never used c.947G>A p.Gly316Asp Pathogenic Moriniere (2014)
Alport Syndrome
Exon 46 Missense 4484C>A c.4282C>A p.Leu1428Met Likely Benign Knebelmann (1996)
Non-conserved amino acid. Originaly published as 4483C>A
Exon 25 Missense never used c.1826G>A p.Gly609Asp Pathogenic Moriniere (2014)
Alport Syndrome
Exon 25 Deletion never used c.1846_1854del p.Asn616_Gly618del Pathogenic Moriniere (2014)
Alport Syndrome
Exon 25 Missense never used c.1894G>C p.Gly632Arg Pathogenic Moriniere (2014)
Alport Syndrome
Exon 25 Missense never used c.1931G>A p.Gly644Asp Pathogenic Moriniere (2014)
Alport Syndrome
Exon 29 Nonsense never used c.2264T>G p.Leu755X Pathogenic Moriniere (2014)
Alport Syndrome
Exon 31 Deletion never used c.2589_2660del p.Ser864_Gly887del Pathogenic Moriniere (2014)
Alport Syndrome
Exon 32 Indel never used c.2765_2766inv p.Lys922Ile Pathogenic Moriniere (2014)
Alport Syndrome- reported as delinsTT
Intron 33 Splice site never used c.2918-1G>A p.? Pathogenic Moriniere (2014)
Alport Syndrome
Exon 34 Missense never used c.2918G>A p.Gly973Asp Pathogenic Moriniere (2014)
Alport Syndrome
Exon 35 Missense never used c.3071G>A p.Gly1024Glu Pathogenic Moriniere (2014)
Alport Syndrome
Exon 36 Nonsense never used c.3154C>T p.Gln1052X Pathogenic Moriniere (2014)
Alport Syndrome
Exon 41 Missense never used c.3685G>T p.Gly1229Cys Pathogenic Moriniere (2014)
Alport Syndrome
Exon 42 Deletion never used c.3899del p.Gly1300fs Pathogenic Moriniere (2014)
Alport syndrome- originally published using exon 44 (NM_033380)
Exon 43-45 Large Deletion never used c.3925-?_4198+?del p.? Pathogenic Moriniere (2014)
Alport syndrome- originally published in exon 45-47 (NM_033380)
Exon 44 Missense never used c.4054C>A p.Leu1352Ile Uncertain Moriniere (2014)
Alport syndrome- originally published in exon 46 (NM_033380) 0.04% in EA in ESP with 2 hemizogous. 0.017% in ExAc
Exon 47 Missense never used c.4352G>A p.Gly1451Asp Pathogenic Moriniere (2014)
Alport syndrome- originally published in exon 49 (NM_033380)
Exon 51 Missense never used c.5051G>A p.Cys1684Tyr Pathogenic Moriniere (2014)
Alport syndrome- originally published in exon 53 (NM_033380)
Intron 18 Splice site never used c.1033-6A>G p.? Likely Pathogenic Kovacs (2016)
Alport syndrome
Intron 29 Splice site never used c.2395+1G>A p.? Pathogenic Kovacs (2016)
Alport syndrome
Exon 32 Missense never used c.2741G>A p.Gly914Asp Pathogenic Kovacs (2016)
Alport syndrome
Exon 02 Missense never used c.82G>T p.Ala28Ser Pathogenic Kovacs (2016)
Alport syndrome. Can also affect splice site
Exon 18 Missense never used c.1010G>T p.Gly337Val Pathogenic Kovacs (2016)
Alport syndrome
Exon 01-02 Large Deletion never used c.1-?_3246+?del p.? Pathogenic Liu (2015)
40 Kb deletion including exon1 of COL4A6 and Exons 1 and 2 of COL4A5. ChrX.hg19:g.107645023_107685353del
Exon 25 Missense never used c.1922G>A p.Gly641Glu Pathogenic Baikara (2015)
Alport syndrome
Exon 22 Missense never used c.1499G>T p.Gly500Val Uncertain Fernadez-Rosado (2015)
Alport syndrome- classified as VUS in a 16 year old female patient
Intron 09 Splice Site never used c.547-3C>A p.? Pathogenic Chen (2016)
Alport syndrome. Splicing defect demonstrated on cDNA: skipping of exon10 causing in frame deletion of 21 amino acids
Exon 15 Splice site never used c.876A>T p.Gly292Gly Pathogenic Fu (2015)
Alport Syndrome. Synonymous mutation. Affects splicing factor binding site. Results in partial deletion of exon15
Intron 01 Splice site never used c.81+4A>C p.? Likely Pathogenic Weber (2016)
Alport Syndrome- Most probably affects splicing (Human splicing finder)
Exon 10 Duplication never used c.560_561dup p.Thr188fs Pathogenic Weber (2016)
Alport Syndrome
Exon 12 Missense never used c.680G>A p.Gly227Asp Pathogenic Weber (2016)
TBMN in female patient. Father has AS
Intron 15 Splice site never used c.891+9T>G p.? Likely Benign Weber (2016)
Alport Syndrome. Not predicted to affect splicing
Intron 16 Splice site never used c.936+1G>A p.? Pathogenic Weber (2016)
Alport Syndrome
Exon 17 Missense never used c.965G>T p.Gly322Val Pathogenic Weber (2016)
Alport Syndrome (TBMN in 12 year old patient AS in mother)
Exon 19 Insertion never used c.1073_1074insC p.Lys358fs Pathogenic Weber (2016)
Alport Syndrome
Exon 19 Missense never used c.1165G>A p.Gly389Arg Pathogenic Weber (2016)
Alport Syndrome
Exon 20 Deletion never used c.1246_1269del p.Ile416_Gly423del Pathogenic Weber (2016)
Alport Syndrome
Exon 25 Missense never used c.1799G>A p.Gly600Asp Pathogenic Weber (2016)
Alport Syndrome in family- Patient is 4.
Intron 25 Splice site never used c.1949-2A>T p.? Pathogenic Weber (2016)
Alport Syndrome in family-TBMN in 2 years old Patient
Exon 27 Splice site never used c.2145A>G p.Lys715Lys Uncertain Weber (2016)
TBMN in 2 years old patient. Alport Syndrome in family. Second to last nt of Exon 27. Might affect splicing. Not found in ExAc or ESP data bases
Intron 28 Splice site never used c.2245-14T>A p.? Uncertain Weber (2016)
Alport Syndrome. Most probably affects splicing by crating a new donor site (Human splicing finder)
Exon 29 Missense never used c.2297G>T p.Gly766Val Pathogenic Weber (2016)
Alport Syndrome. Found also by HaeII (LOVD)
Intron 33 Splice site never used c.2918-1G>C p.? Pathogenic Weber (2016)
Alport Syndrome
Exon 34 Deletion never used c.2976_2982del p.Gln992fs Pathogenic Weber (2016)
Alport Syndrome
Exon 36 Deletion never used c.3227del p.Pro1076fs Pathogenic Weber (2016)
Alport Syndrome
Exon 39 Missense never used c.3545G>T p.Gly1182Val Pathogenic Weber (2016)
Alport Syndrome
Exon 44 Missense never used c.4060G>T p.Gly1354Cys Pathogenic Weber (2016)
Alport Syndrome
Intron 47 Splice Site never used c.4510+1G>T p.? Pathogenic Weber (2016)
Alport Syndrome
Intron 48 Splice Site never used c.4688+1G>A p.? Pathogenic Weber (2016)
Alport Syndrome
Exon 49 Missense never used c.4787G>T p.Gly1596Val Pathogenic Weber (2016)
Alport Syndrome
Exon 49 Missense never used c.4793C>T p.Ser1598Phe Pathogenic Weber (2016)
Alport Syndrome. Found also by Montaganel (LOVD)
Exon 50 Missense never used c.4895G>A p.Cys1632Tyr Pathogenic Weber (2016)
Alport Syndrome. Found also by Montaganel (LOVD)
Exon 50 Missense never used c.4913G>C p.Cys1638Ser Pathogenic Weber (2016)
Alport Syndrome
Exon 50 Missense never used c.4931C>G p.Ser1644Cys Pathogenic Weber (2016)
Alport Syndrome
Exon 51 Missense never used c.5041T>G p.Cys1681Gly Pathogenic Weber (2016)
Alport Syndrome
Exon 35-36 Large Duplication never used c.3017-?_3246+?del p.? Pathogenic Weber (2016)
Alport Syndrome
Exon 42-45 Large Duplication never used c.3791-?_4198+?del p.? Pathogenic Weber (2016)
Alport Syndrome
Exon 18 Missense never used c.1000G>A p.Gly334Ser Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein.
Exon 29 Missense never used c.2288G>T p.Gly763Val Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein.
Exon 47 Missense never used c.4457G>A p.Gly1486Asp Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein.
Exon 25 Missense never used c.1781G>A p.Gly594Asp Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein.
Exon 36 Missense never used c.3206G>A p.Gly1069Asp Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein.
Exon 35 Missense never used c.3053G>A p.Gly1018Asp Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein.
Exon 15 Nonsense never used c.871C>T p.Gln291X Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein.
Exon 24 Insertion never used c.1652_1653 insTC p.Thr552fs Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein.
Exon 49 Insertion never used c.4736_4737insT p.Gln1579fs Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein.
Exon 50 Duplication never used c.4819dup p.Ala1607fs Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein. Reported as c.4818-4819insG
Exon 38 Insertion never used c.3450_3451insAC p.Val1151fs Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein.
Exon 33 Insertion never used c.2903_2904insG p.Pro969fs Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein.
Exon 6 Insertion never used c.331_332 insCA p.Gly111fs Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein.
Exon 21 Insertion never used c.1411_1414 dup p.Gly472fs Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein. Reported as c.1411_1415dupCAAG
Exon 48 Deletion never used c.4565 del p.Asn1522fs Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein.
Exon 49 Deletion never used c.4725 del p.Val1576fs Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein.
Exon 31 Deletion never used c.2589 del p.Ser864fs Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein.
Intron11 Splice Site never used c.610-2A>T p.? Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein. Skipping of exon 11 ( cDNA)
Intron 25 Splice Site never used c.1948+894C>G p.? Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein. Cryptic exon in Intron 25- new splicing acceptor site- addition of 106nt (cDNA)
Inton 50 Splice Site never used c.4976+2T>C p.? Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein. Skipping of exon 50( cDNA)
Intron 10 Splice Site never used c.609+875G>T p.? Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein. New splicing donor site- addition of 123 nt (cDNA)
Exon 12 Missense never used c.679G>A p.Gly227Ser Pathogenic Hashimura (2014)
Alport Syndrome. Normal expression of a5(IV) protein
Exon 16 Missense never used c.893G>A p.Gly298Asp Pathogenic Hashimura (2014)
Alport Syndrome. Reduced expression of a5(IV) protein
Exon 25 Missense never used c.1781G>A p.Gly594Asp Pathogenic Hashimura (2014)
Alport Syndrome. Normal expression of a5(IV) protein
Exon 16 Missense never used c.929G>A p.Gly310Glu Pathogenic Hashimura (2014)
Alport Syndrome. Reduced expression of a5(IV) protein
Exon 38 Missense never used c.3410G>A p.Gly1137Asp Pathogenic Hashimura (2014)
Alport Syndrome. Reduced expression of a5(IV) protein
Exon 21 Deletion never used c.1347_1355del p.Ile450_Glu452del Pathogenic Hashimura (2014)
Alport Syndrome. Normal expression of a5(IV) protein. In frame deletion
Exon 19 Deletion never used c.1078_1113 del p.Asn360_Gly371del Pathogenic Hashimura (2014)
Alport Syndrome. Normal expression of a5(IV) protein. In frame deletion. Published as c.1066_1101del
Intron 41 Splice Site never used c.3791-2A>T p.? Pathogenic Hashimura (2014)
Alport Syndrome- somatic mosaic- skipping of exon 42 reported as c.3809-2A>T in NM_033380
Exon 49 Nonsense never used c.4701T>A p.Cys1567X Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein. Reported as c.4945T>A
Intron 17 Splice Site never used c.991-1G>A p.? Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein. Reported as c.990-1G>A
Intron 47 Splice Site never used c.4511-345A>G p.? Pathogenic Hashimura (2014)
Alport Syndrome. Negative staining for a5(IV) protein. Reported as c.4529-3445. Creates a cryptic exon in Intron 47 (cDNA data)
Intron 24 Splice Site never used c.1780-1G>T p.? Pathogenic Kovacs (2016)
Alport Syndrome. Acceptor splice disruption.
Exon 32 Missense never used c.2767G>C p.Gly923Arg Pathogenic Abe (2016)
Alport Syndrome. Could also affect splicing.
Intron 24 Splice site never used c.1780-6T>G p.? Pathogenic Malone (2016)
Alport Syndrome. Creates skipping of exon 25- RNA study
Intron 13 Splice site never used c.780+5G>A p.? Pathogenic Fallerini (2017)
Alport Syndrome. Found in combination with a mutation in Col4A3. Effect on exon 13 skipping tested using a minigen assay.
Intron 28 Splice site never used c.2245-40A>G p.? Pathogenic Chiereghin (2017)
Alport Syndrome. Causes skipping of exon 29. Skewed X inactivation correlates with disease severity
Exon 33 Missense never used c.2822G>A p.Gly941Asp Pathogenic Chiereghin (2017)
Alport Syndrome.