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).
  • Click any Column Header to sort the display. Mouse over Comments icon for additional details.
  • "Live Search" any term in the search box, such as "exon" , "missense", "benign" , etc...
  • Classification of "Moderate" indicates age of onset >30.


771 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)
Exon 01-36 Large Deletion never used c.1-?_3246+?del p.? Pathogenic Uliana (2011)
Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Uliana (2011)
Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
Exon 01 Missense 203A>G c.1A>G p.? Pathogenic Lemmink (1997)
Exon 01-04 Large Deletion never used c.1-?_ 276+?del p.? Pathogenic Lemmink (1997)
Exon 01-18 Large Deletion never used c.1-?_ 1032+?del p.? Pathogenic Hertz (2008)
Exon 01-18 Large Deletion never used c.1-?_1032+?del p.? Pathogenic Lemmink (1997)
Exon 01-30 Large Deletion never used c.1-?_ 2509+?del p.? Pathogenic Lemmink (1997)
Exon 01-30 Large Deletion never used c.1-?_ 2509+?del p.? Pathogenic Plant (1999)
Exon 01-32 Large Deletion never used c.1-?_ 2767+?del p.? Pathogenic Lemmink (1997)
Exon 01-32 Large Deletion never used c.1-?_ 2767+?del p.? Pathogenic Lemmink (1997)
Exon 01-51 Large Deletion never used c.1-?_ 5058+?del Deletion of
entire gene
Pathogenic Barker (2001)
Exon 01-51 Large Deletion never used c.1-?_ 5058+?del Deletion of
entire gene
Pathogenic Nozu (2008)
Exon 01-51 Large Deletion never used c.1-?_ 5058+?del Deletion of
entire gene
Pathogenic Hoischen (2009)
Exon 01 Deletion 204_205delTG c.2_3del p.Met1fs Pathogenic King (2006)
Exon 01 Nonsense 215G>T c.13G>T p.Gly5X Pathogenic Cruz-Robles (1999)
Exon 01 Insertion never used c.38_41dup p.Leu14fs Pathogenic Hertz (2008)
Exon 01 Deletion never used c.49_50del p.Leu17fs Pathogenic Ellison (2009)
Exon 01 Deletion c.267_279del13 c.65_77del p.Gln22fs Pathogenic Bekheirnia (2010)
Intron 01 Splice Site c.283+1G>C c.81+1G>C p.? Pathogenic Bekheirnia (2010)
Exon 02-36 Large Duplication never used c.82-27.699_3246
+16.073dup
p.Ala28_Lys1082dup Pathogenic Arrondel (2004)
Exon 02-08 Large Deletion never used c.82-?_ 465+?del p.? Pathogenic Martin (1998)
Exon 02-19 Large Deletion never used c.82-?_ 1165+?del p.? Pathogenic Lemmink (1997)
Exon 02-36 Large Deletion never used c.82-?_ 3246+?del p.? Pathogenic Lemmink (1997)
Exon 02-37 Large Deletion never used c.82-?_ 3373+?del p.? Pathogenic King(2006)
Exon 02-51 Large Deletion never used c.82-?_5058+?del p.? Pathogenic Plant (1999)
Exon 02-51 Large Deletion never used c.82-?_5058+?del p.? Pathogenic Plant (1999)
Exon 02 Large Deletion c.284-?_343+?del c.82-?_141+?del p.? Pathogenic Bekheirnia (2010)
Exon 02 Nonsense never used c.87C>A p.Cys29X Pathogenic Savige (2008)
Exon 02 Nonsense 292T>G c.90T>G p.Tyr30X Pathogenic Martin (2000)
Exon 02 Deletion never used c.119del p.Cys40fs Pathogenic Tazon-Vega (2007)
Intron 02 Splice Site 344-1G>A c.142-1G>A p.? Pathogenic Plant (1999)
Exon 03-37 Large Deletion never used c.142-?_ 3373+?del p.? Pathogenic Barker (2001)
Exon 03-31 Large Deletion c.344-?_2879+?del c.142-?_2677+?del p.? Pathogenic Bekheirnia (2010)
Exon 03 Missense never used c.142G>A p.Gly48Arg Pathogenic Tan (2010)
Exon 03 Insertion c.353insA355insT c.151_152insA
+156dup
p.Gly51fs Pathogenic Bekheirnia (2010)
Exon 03 Large Deletion c.344-?_433+?del c.142-?_231+?del p.? Pathogenic Bekheirnia (2010)
Exon 03 Missense 363G>A c.161G>A p.Gly54Asp Pathogenic Turco (1995)
Intron 03 Splice Site 433+1G>A c.231+1G>A p.? Pathogenic Barker (2001)
Intron 03 Splice Site 434-1G>T c.232-1G>T p.? Pathogenic Barker (2001)
Intron 03 Splice Site c.434-1G>T c.232-1G>A p.? Pathogenic Bekheirnia (2010)
Exon 04/05-26 Large Deletion never used c.232-?_ 2041+?del p.? Pathogenic Lemmink (1997)
Exon 04-13 Large Deletion never used c.232-?_ 780+?del p.? Pathogenic Lemmink (1997)
Exon 04-47 Large Deletion never used c.232-?_ 4510+?del p.? Pathogenic Lemmink (1997)
Exon 04 Deletion 452delG c.252del p.Pro85fs Pathogenic Plant (1999)
Intron 04 Splice Site never used c.276+5G>A p.? Pathogenic Nagel (2005)
Intron 04 Splice Site 479-1G>T c.277-1G>T p.? Pathogenic Plant (1999)
Exon 05-10 Large Deletion never used c.277-?_ 609+?del p.? Pathogenic Barker (1990)
Exon 05 Missense never used c.286G>A p.Gly96Arg Pathogenic Bekheirnia (2010)
Exon 05 Deletion 495delC c.293del p.Pro98fs Pathogenic Barker (2001)
Intron 05 Splice Site 524-1G>A c.322-1G>A p.? Pathogenic Plant (1999)
Exon 06 Deletion never used c.351_359 del p.Pro118_Gly120del Pathogenic Savige (2008)
Exon 06 Deletion never used c.368del p.Gly123fs Pathogenic Nagel (2005)
Intron 06 Splice site c.384-+ 1873 G>A c.385-719 G>A p.? Pathogenic King (2002)
Intron 06 Splice Site 587-1G>C c.385-1G>C p.? Pathogenic Hertz (2001)
Exon 07 Missense never used c.385G>A p.Gly129Arg Pathogenic Bekheirnia (2010)
Exon 07 Missense 588G>A c.386G>A p.Gly129Glu Pathogenic Lemmink (1997)
Exon 07 Missense 588G>T c.386G>T p.Gly129Val Pathogenic Lemmink (1997)
Exon 07 Nonsense 590G>T c.388G>T p.Glu130X Pathogenic Plant (1999)
Exon 07 Missense 632G>A c.430G>A p.Gly144Ser Pathogenic Plant (1999)
Exon 07 Missense never used c.430G>C p.Gly144Arg Pathogenic Ma (2011)
Exon 07 Missense never used c.431G>A p.Gly144Asp Pathogenic Bekheirnia (2010)
Intron 07 Splice Site never used c.438+2T>C p.? Pathogenic Ma (2011)
Intron 07 Splice Site c.640+5G>A c.438+5G>A p.? Pathogenic Bekheirnia (2010)
Exon 08 Deletion 642del G c.440del p.Gly147fs Pathogenic Inoue (1999)
Exon 08 Insertion never used c.446dup p.Gly150fs Pathogenic Nagel (2005)
Exon 08 Deletion 648delC c.446del p.Pro149fs Pathogenic Martin (1998)
Intron 08 Splice Site never used c.466-17T>G p.? Uncertain Nagel (2005)
Intron 08 Splice Site 668-12G>A c.466-12G>A p.? Pathogenic Wang (2005)
Intron 08 Splice Site 668-2A>G c.466-2A>G p.? Pathogenic Hertz (2001)
Exon 09 Deletion never used c.476del p.Gly159fs Pathogenic Ma (2011)
Exon 09 Missense 722G>C c.520G>C p.Gly174Arg Pathogenic Renieri (1996)
Exon 09 Missense 731 G>T c.529 G>T p. Gly177Cys Pathogenic Blasi (2000)
Exon 09 Missense 731G>C c.529G>C p.Gly177Arg Pathogenic Renieri (1996)
Exon 09 Deletion 735delC c.533del p.Pro178fs Pathogenic Knebelmann (1996)
Exon 09 Missense never used c.538G>A p.Gly180Arg Pathogenic Bekheirnia (2010)
Intron 09 Splice Site 746_748+4
delCAAgtaa
c.544_546+4
delCAAgtaa
p.? Pathogenic Bekheirnia (2010)
Intron 09 Splice Site 748+1G>AIVS9+1G>A c.546+1G>A p.? Pathogenic Knebelmann (1996)
Intron 09 Splice Site 748+3insT c.546+3insT p.? Pathogenic Knebelmann (1996)
Intron 09 Splice Site c.749-2A>G c.547-2A>G p.? Pathogenic Bekheirnia (2010)
Intron 09 Splice Site 749-1G>A c.547-1G>A p.? Pathogenic Hertz (2001)
Exon 10 Missense never used c.548G>T p.Gly183Val Pathogenic Nagel (2005)
Exon 10 Insertion 752_753insC c.550dup p.Leu184fs Pathogenic Martin (1998)
Exon 10 Insertion never used c.573_574dup p.Gly192fs Pathogenic Ma (2011)
Exon 10 Missense 776G>A c.574G>A p.Gly192Arg Pathogenic Barker (2001)
Exon 10 Missense 786G>A c.584G>A p.Gly195Asp Pathogenic Hertz (2001)
Exon 10 Missense 795G>A c.593G>A p.Gly198Glu Pathogenic Slajpah (2007)
Exon 10 Missense 804G>T c.602G>T p.Gly201Val Moderate Hertz (2001)
Intron 10 Splice Site 811+1G>A c.609+1G>A p.? Pathogenic Hertz (2001)
Intron 10 Splice Site 811+21T>C c.609+21T>C p.? Benign Barker (2001)
Intron 10 Splice Site never used c.610-2A>G p.? Pathogenic Tazon-Vega (2007)
Exon 11 Deletion 812_830del19 c.610_628del p.Gly204fs Pathogenic Inoue (1999)
Exon 11 Missense 813G>A c.611G>A p.Gly204Asp Pathogenic Gross (2002)
Exon 11 Missense 813G>T c.611G>T p.Gly204Val Pathogenic Knebelmann (1996)
Exon 11 Deletion c.813_814delGC c.611_612del p.Gly204fs Pathogenic Bekheirnia (2010)
Exon 11 Deletion 836delC c.634del p.Pro212fs Pathogenic Renieri (1996)
Exon 11 Missense 840G>A c.638G>A p.Gly213Glu Pathogenic King (2006)
Intron 11 Deletion never used c.646-12_11del p. G216_K229 del Pathogenic Tazon-Vega (2007)
Intron 11 Splice Site 848-3C>A c.646-3C>A p.? Pathogenic Plant (1999)
Exon 12 Missense 848G>A c.646G>A p.Gly216Arg Pathogenic Martin (2000)
Exon 12 Missense never used c.647G>T p.Gly216Val Pathogenic Tazon-Vega (2007)
Exon 12 Insertion never used c.647_648dup p.Asn217fs Pathogenic Nagel (2005)
Exon 12 Insertion never used c.648dup p.Asn217fs Pathogenic Nagel (2005)
Exon 12 Missense 857G>A c.655G>A p.Gly219Ser Pathogenic Renieri (1996)
Exon 12 Missense never used c.665T>G p.Phe222Cys Pathogenic Becknell (2011)
Exon 12 Nonsense never used c.682G>T p.Glu228X Pathogenic Demosthenous (2012)
Intron 12 Splice Site 889+1G>A c.687+1G>A p.? Pathogenic Lemmink (1997)
Intron 12 Splice Site 890-3C>G c.688-3C>G p.? Pathogenic Knebelmann (1996)
Exon 13 Missense 890G>C c.688G>C p.Gly230Arg Pathogenic Knebelmann (1996)
Exon 13 Deletion 891delG c.689del p.Gly230fs Pathogenic Knebelmann (1996)
Exon 13 Missense never used c.689G>A p.Gly230Asp Pathogenic Bekheirnia (2010)
Exon 13 Missense 918G>A c.716G>A p.Gly239Glu Pathogenic Knebelmann (1996)
Exon 13 Deletion 963_964delAG c.761_762del p.Glu254fs Pathogenic Kawai (1996)
Intron 13 Splice Site never used c.780+2 T>G p.? Pathogenic Tazon-Vega (2007)
Intron 13 Splice Site 983-1del7 c.781 -1_786del p.? Pathogenic Kawai (1996)
Exon 14-51 Large Deletion never used c.781-?_ 5058+?del p.? Pathogenic Lemmink (1997)
Exon 14-21 Large Deletion never used c.781-?_1423+?del p.? Pathogenic Bekheirnia (2010)
Exon 14 Deletion never used c.788del p.Pro263fs Pathogenic Ma (2011)
Exon 14 Missense 992G>C c.790G>C p.Gly264Arg Pathogenic Knebelmann (1996)
Exon 14 Missense never used c.791G>A p.Gly264Asp Pathogenic Nagel (2005)
Exon 14 Nonsense 998C>T c.796C>T p.Arg266X Pathogenic Wang (2005)
Exon 14 Deletion 1014delC c.812del p.Pro271fs Pathogenic Gross (2002)
Intron 14 Splice Site 1036+1G>A c.834+1G>A p.? Pathogenic Knebelmann (1996)
Intron 14 Splice Site 1036+5G>T c.834+5G>T p.? Pathogenic Wang (2005)
Exon 15 Nonsense 1061G>T c.859G>T p.Glu287X Pathogenic Lemmink (1997)
Exon 15 Nonsense 1068G>T c.866G>T p.Glu289Val Pathogenic Lemmink (1997)
Exon 15 Deletion c.1068delC c.866del p.Gly289fs Pathogenic Bekheirnia (2010)
Exon 15 Deletion c.1075delA c.873del p.Gly292fs Pathogenic Bekheirnia (2010)
Exon 15 Missense 1076G>C c.874G>C p.Gly292Arg Pathogenic Barker (2001)
Exon 15 Missense 1077G>T c.875G>T p.Gly292Val Pathogenic Lemmink (1997)
Exon 15 Deletion c.1077delG c.875del p.Gly292fs Pathogenic Bekheirnia (2010)
Exon 15 Missense 1086G>A c.884G>A p.Gly295Asp Pathogenic Barker (2001)
Intron 15 Splice Site 1093+1G>A c.891+1G>A p.? Pathogenic Knebelmann (1996)
Intron 15 Splice Site 1094-2A>G c.892-2A>G p.? Pathogenic Lemmink (1997)
Intron 15 Splice Site 1094-1G>C c.892-1G>C p.? Pathogenic Lemmink (1997)
Exon 16 Missense 1094G>A c.892G>A p.Gly298Ser Pathogenic Knebelmann (1996)
Exon 16 Nonsense 1115G>T c.913G>T p.Glu305X Pathogenic Plant (1999)
Exon 16 Missense 1122G>A c.920G>A p.Gly307Asp Pathogenic Gross (2002)
Exon 16 Missense 1130G>A c.928G>A p.Gly310Arg Pathogenic Slajpah (2007)
Intron 16 Splice Site never used c.937-1G>A p.? Pathogenic Nagel (2005)
Exon 17 Large Deletion never used c.937-?_990+?del p.? Pathogenic Lemmink (1997)
Exon 17 Missense 1139G>A c.937G>A p.Gly313Ser Pathogenic King (2006)
Exon 17 Insertion 1147_1148insT c.945dup p.Gly316fs Pathogenic Martin (1998)
Exon 17 Missense never used c.955G>C p.Gly319Arg Pathogenic Cheong (2000)
Exon 17 Missense 1158G>A c.956G>A p.Gly319Asp Pathogenic Slajpah (2007)
Exon 17 Nonsense never used c.960C>A p.Tyr320X Pathogenic Bekheirnia (2010)
Exon 17 Silent 1172C>T c.970C>T p.= Benign Plant (1999)
Exon 17 Missense 1175G>A c.973G>A p.Gly325Arg Pathogenic Barker (2001)
Exon 17 Nonsense 1175G>T c.973G>T p.Gly325X Pathogenic Kawai (1996)
Exon 17 Missense 1176G>A c.974G>A p.Gly325Glu Pathogenic Renieri (1996)
Exon 18 Missense 1194G>T c.992G>T p.Gly331Val Pathogenic Plant (1999)
Exon 18 Missense never used c.1001G>T p.Gly334Val Pathogenic Hertz (2008)
Intron 18 Splice Site 1234+3delAAGT c.1032+3_1032+6
delAAGT
p.? Pathogenic Knebelmann (1996)
Intron 18 Splice Site 1234+5G>T c.1032+5G>T p.? Pathogenic Slajpah (2007)
Intron 18 Splice Site 1235-15delT c.1033-15delT p.? Benign Barker (2001)
Exon 19-22 Large Deletion never used c.1033-?_1516+?del p.? Pathogenic Lemmink (1997)
Exon 19 Insertion c.1262_1263insA c.1060dup p.Thr354fs Pathogenic Bekheirnia (2010)
Exon 19 Insertion 1264_1265insT c.1062dup p.Ile355fs Pathogenic Barker (2001)
Exon 19 Deletion 1276delA p.Lys358fs Pathogenic Kawai (1996)
Exon 19 Missense never used c.1084G>A p.Gly362Arg Pathogenic Bekheirnia (2010)
Exon 19 Missense 1296G>A c.1094G>A p.Gly365Glu Pathogenic Lemmink (1997)
Exon 19 Silent 1297G>C c.1095G>C p.= Benign Barker (2001)
Exon 19 Missense 1314G>A c.1112G>A p.Gly371Glu Pathogenic Renieri (1996)
Exon 19 Nonsense 1319C>T c.1117C>T p.Arg373X Pathogenic Renieri (1996)
Exon 19 Missense 1323G>C c.1121G>C p.Gly374Ala Pathogenic Renieri (1996)
Exon 19 Nonsense never used c.1135C>T p.Gln379X Pathogenic Tug (2011)
Exon 19 Missense never used c.1139G>A p.Gly380Asp Pathogenic Tazon-Vega (2007)
Exon 19 Missense 1350G>A c.1148G>A p.Gly383Asp Pathogenic Kawai (1996)
Intron 19 Splice Site 1367+1G>A c.1165+1G>A p.? Pathogenic Renieri (1996)
Intron 19 Splice Site 1367+2T>G c.1165+2T>G p.? Pathogenic Renieri (1996)
Exon 20-21 Large Deletion never used c.1166-?_1423+?del p.? Pathogenic Lemmink (1997)
Exon 20-22 Large Deletion never used c.1166-?_1516+?del p.? Pathogenic Hertz (2008)
Exon 20-26 Large Deletion never used c.1166-?_2041+?del p.? Pathogenic Lemmink (1997)
Exon 20 Deletion c.1383delG c.1181del p.Glu394fs Pathogenic Bekheirnia (2010)
Exon 20 Silent 1393C>G c.1191C>G p.= Benign Wang (2005)
Exon 20 Missense 1401G>A c.1199G>A p.Gly400Glu Pathogenic Plant (1999)
Exon 20 Missense 1410G>T c.1208G>T p.Gly403Val Pathogenic Wang (2005)
Exon 20 Insertion never used c.1213dup p.Arg405fs Pathogenic Tan (2010)
Exon 20 Insertion 1416_1417insA c.1214_1215insA p.Gln407fs Pathogenic Knebelmann (1996)
Exon 20 Insertion 1419_1420
insGGGG
c.1214_1217dup p.Gln407fs Pathogenic Renieri (1996)
Exon 20 Missense 1419G>T c.1217G>T p.Gly406Val Pathogenic Renieri (1996)
Exon 20 Nonsense 1421C>T c.1219C>T p.Gln407X Pathogenic Hertz (2001)
Exon 20 Nonsense never used c.1222A>T p.Lys408X Pathogenic Bekheirnia (2010)
Exon 20 Missense 1428G>A c.1226G>A p.Gly409Asp Pathogenic Renieri (1996)
Exon 20 Missense 1437G>T c.1235G>T p.Gly412Val Pathogenic Knebelmann (1996)
Exon 20 Missense 1445G>A c.1243G>A p.Gly415Arg Pathogenic Martin (2000)
Exon 20 Deletion never used c.1254del p.Pro419fs Pathogenic Nagel (2005)
Exon 20 Missense 1461G>A c.1259G>A p.Gly420Glu Pathogenic Knebelmann (1996)
Exon 20 Missense 1461G>T c.1259G>T p.Gly420Val Pathogenic Martin (1998)
Exon 20 Deletion 1467delC c.1265del p.Pro422fs Pathogenic Knebelmann (1996)
Exon 20 Missense 1470G>A c.1268G>A p.Gly423Glu Pathogenic Knebelmann (1996)
Exon 20 Missense never used c.1276G>A p.Gly426Arg Pathogenic Nagel (2005)
Exon 20 Insertion 1482_1483insA c.1280dup p.Pro428fs Pathogenic Renieri (1996)
Exon 20 Missense never used c.1286G>A p.Gly429Glu Pathogenic Tazon-Vega (2007)
Exon 20 Insertion 1486_1487insG c.1288dup p.Ala430fs Pathogenic Wang (2005)
Exon 20 Missense never used c.1294G>A p.Gly432Arg Pathogenic Bekheirnia (2010)
Exon 20 Missense 1533T>G c.1331T>G p.Ile444Ser Benign Wang (2005)
Intron 20 Splice Site 1542-2A>G c.1340-2A>G p.? Pathogenic Lemmink (1997)
Exon 21 Deletion 1552_1554delAT c.1350_1351del p.Ile450fs Pathogenic Plant (1999)
Exon 21 Deletion 1568_1576del c.1371_1379del p.Pro458_Pro460del Pathogenic Martin (1998)
Exon 21 Deletion 1578delC c.1376delC p.Pro459fs Pathogenic Knebelmann (1996)
Exon 21 Insertion c.1578insC c.1376dup p.Gly460fs Pathogenic Bekheirnia (2010)
Exon 21 Missense 1599G>A c.1397G>A p.Gly466Glu Pathogenic Kawai (1996)
Exon 21 Missense never used c.1406G>A p.Gly469Glu Pathogenic Nagel (2005)
Exon 21 Missense 1616G>A c.1414G>A p.Gly472Arg Pathogenic Plant (1999)
Exon 21 Missense never used c.1423G>A p.Gly475Ser Pathogenic Bekheirnia (2010)
Intron 21 Splice Site 1625+1G>A c.1423+1G>A p.? Pathogenic Martin (1998)
Intron 21 Splice Site 1625+56_1625+57ins c.1423+57dup p.? Pathogenic Wang (2005)
Intron 21 Splice Site never used c.1424-20 T>A p.? Pathogenic Pont-Kingdon (2009)
Intron 21 Splice Site 1626-1G>A c.1424-1G>A p.Gly475_Pro505del Pathogenic Wang (2005)
Exon 22-28; 38-51 Large Deletion never used c.1424-?_ 2244+?del;
3374-?_5058+?del
p.? Pathogenic Lemmink (1997)
Exon 22 Missense 1674G>A c.1472G>A p.Gly491Glu Pathogenic Knebelmann (1996)
Exon 22 Missense 1683G>A c.1481G>A p.Gly494Asp Pathogenic Renieri (1996)
Exon 22 Deletion 1685del36 c.1483del36 p.Gln495_Gly506del Pathogenic Renieri (1996)
Exon 22 Missense 1691G>T c.1489G>T p.Gly497Cys Pathogenic Knebelmann (1996)
Exon 22 Missense never used c.1498G>C p.Gly500Arg Pathogenic Tan (2010)
Intron 22 Splice Site never used c.1516+1G>A p.? Pathogenic Nagel (2005)
Intron 22 Splice Site never used c.1517-1G>T p.? Pathogenic Tang (2008)
Exon 23 Deletion 1744_1745delAG c.1542_1543del p.Glu516fs Pathogenic Plant (1999)
Exon 23 Missense 1763G>T c.1561G>T p.Gly521Cys Pathogenic Hertz (2001)
Exon 23 Missense 1764G>A c.1562G>A p.Gly521Asp Pathogenic King (2006)
Exon 23 Deletion 1768delA c.1567del p.Thr523fs Pathogenic Renieri (1996)
Exon 23 Missense 1773G>A c.1571G>A p.Gly524Asp Pathogenic Knebelmann (1996)
Exon 23 Deletion 1783_1798del16 c.1581_1596del p.Leu528fs Pathogenic Plant (1999)
Intron 23 Splice Site 1789+1delG c.1587+1delG p.? Pathogenic Knebelmann (1996)
Intron 23 Splice Site 1789+1G>A c.1587+1G>A p.? Pathogenic Martin (1998)
Exon 24 Missense never used c.1589G>A p.Gly530Asp Pathogenic Zhang (2011)
Exon 24 Missense never used c.1598G>A p.Gly533Glu Pathogenic Pont-Kingdon (2009)
Exon 24 Missense never used c.1607G>A p.Gly536Asp Pathogenic Tazon-Vega (2007)
Exon 24 Missense 1835G>C c.1633G>C p.Gly545Arg Pathogenic Plant (1999)
Exon 24 Missense 1836G>T c.1634G>T p.Gly545Val Pathogenic Plant (1999)
Exon 24 Missense never used c.1643G>A p.Gly548Asp Pathogenic Pont-Kingdon (2009)
Exon 24 Deletion 1855delC c.1653delC p.Leu550fs Pathogenic Wang (2005)
Exon 24 Missense 1874G>C c.1672G>C p.Gly558Arg Pathogenic Barker (2001)
Exon 24 Missense 1883G>A c.1681G>A p.Gly561Arg Pathogenic Plant (1999)
Exon 24 Missense never used c.1690G>T p.Gly564Cys Pathogenic Tan (2010)
Exon 24 Missense 1902G>C c.1700G>C p.Gly567Ala Pathogenic Renieri (1996)
Exon 24 Missense 1920G>A c.1718G>A p.Gly573Asp Pathogenic Hertz (2001)
Exon 24 Missense never used c.1726G>A p.Gly576Ser Pathogenic Bekheirnia (2010)
Exon 24 Missense 1937G>A c.1735G>A p.Gly579Arg Pathogenic Plant (1999)
Exon 24 Missense 1937G>A c.1736G>A p.Gly579Gln Pathogenic Inoue (1999)
Exon 24 Nonsense never used c.1738C>T p.Gln580X Pathogenic Bekheirnia (2010)
Exon 24-26 Large Deletion 1941del1.4kb
(to 2150+98)
c.1739_1948+98del p.Gln580_Gly650delinsArg Pathogenic Plant (1999)
Exon 24 Missense never used c.1744G>A p.Gly582Arg Pathogenic Ma (2011)
Exon 24 Deletion c.1959_1972del14 c.1757_1770del p.Leu586fs Pathogenic Bekheirnia (2010)
Intron 24 Splice Site 1981+1G>T c.1779+1G>T p.? Pathogenic Renieri (1996)
Intron 24 Splice Site c.1981+3G>C c.1779+3G>C p.? Pathogenic Bekheirnia (2010)
Intron 24 Splice Site 1982-1G>A c.1780-1G>A p.? Pathogenic King (2006)
Exon 25 Missense 1982G>A c.1780G>A p.Gly594Ser Pathogenic Hertz (2001)
Exon 25 Missense (or splice site) 1985G>A c.1783G>A p.Gly595Arg Pathogenic Hertz (2001)
Exon 25 Missense 2010G>T c.1808G>T p.Gly603Val Pathogenic Barker (2001)
Exon 25 Missense 2027G>C c.1825G>C p.Gly609Arg Pathogenic Knebelmann (1996)
Exon 25 Missense 2028G>T c.1826G>T p.Gly609Val Pathogenic Lemmink (1997)
Exon 25 Missense never used c.1835G>A p.Gly612Asp Pathogenic Ma (2011)
Exon 25 Missense/Splice Site never used c.1856C>T p.Pro619Leu Pathogenic Tazon-Vega (2007)
Exon 25 Missense 2063G>T c.1861G>T p.Gly621Cys Pathogenic Knebelmann (1996)
Exon 25 Missense 2073G>A c.1871G>A p.Gly624Asp Pathogenic Slajpah (2007)
Exon 25 Missense 2079G>C c.1877G>C p.Gly626Ala Pathogenic Hertz (2001)
Exon 25 Missense never used c.1883C>T p.Pro628Leu Pathogenic Demosthenous (2012)
Exon 25 Missense 2088G>A c.1886G>A p.Gly629Asp Pathogenic Barker (2001)
Exon 25 Missense 2097G>A c.1895G>A p.Gly632Asp Pathogenic Knebelmann (1996)
Exon 25 Missense 2099G>A c.1897G>A p.Glu633Lys Pathogenic Inoue (1999)
Exon 25 Missense 2106G>A c.1904G>A p.Gly635Asp Pathogenic Martin (1998)
Exon 25 Missense 2114G>A c.1912G>A p.Gly638Ser Pathogenic Plant (1999)
Exon 25 Missense 2115G>C c.1913G>C p.Gly638Ala Pathogenic Plant (1999)
Exon 25 Missense 2115G>T c.1913G>T p.Gly638Val Pathogenic Plant (1999)
Intron 25 Splice Site 2150+1G>A c.1948+1G>A p.? Pathogenic Wang (2005)
Exon 26-29 Large Deletion never used c1949-?_2395+?del p.? Pathogenic Plant (1999)
Exon 26-37 Large Deletion never used c.1949-?_ 3373+?del p.? Pathogenic Hertz (2008)
Exon 26 Missense 2159G>A c.1957G>A p.Gly653Arg Pathogenic Plant (1999)
Exon 26 Deletion 2162delG c.1960delG p.Asp654fs Pathogenic Knebelmann (1996)
Exon 26 Missense 2194G>T c.1992G>T p.Lys664Asn Benign Slajpah (2007)
Exon 26 Missense 2199G>A c.1997G>A p.Gly666Asp Pathogenic Slajpah (2007)
Exon 26 Missense 2207G>C c.2005G>C p.Gly669Arg Pathogenic Wang (2005)
Exon 26 Missense 2208G>C c.2006G>C p.Gly669Ala Pathogenic Plant (1999)
Exon 26 Missense never used c.2014G>C p.Gly672Arg Pathogenic Ma (2011)
Exon 26 Deletion 2220delG c.2018delG p.Arg673fs Pathogenic Renieri (1996)
Exon 26 Missense never used c.2023G>A p.Gly675Ser Pathogenic Nagel (2005)
Intron 26 Splice Site 2243+1G>T c.2041+1G>T p.? Pathogenic Martin (1998)
Intron 26 Splice Site never used c.2042-18A>G p.? Pathogenic Savige (2008)
Exon 27 Missense 2244G>A c.2042G>A p.Gly681Asp Pathogenic Knebelmann (1996)
Exon 27 Nonsense 2252G>T c.2050G>T p.Gly684X Pathogenic Plant (1999)
Exon 27 Missense 2253G>T c.2051G>T p.Gly684Val Pathogenic Kawai (1996)
Exon 27 Silent 2257T>C c.2055T>C p.= Benign Barker (2001)
Exon 27 Deletion never used c.2057del p.Pro686fs Pathogenic Tazon-Vega (2007)
Exon 27 Missense 2262G>A c.2060G>A p.Gly687Glu Pathogenic Plant (1999)
Exon 27 Insertion never used c.2062_2114dup p.Ile706fs Pathogenic Tazon-Vega (2007)
Exon 27 Nonsense never used c.2098G>T p.Glu700X Pathogenic Hertz (2008)
Exon 27 Missense 2309A>G c.2107A>G p.Ile703Val Benign Wang (2005)
Exon 27 Missense 2348G>C c.2146G>C p.Gly716Arg Pathogenic Kawai (1996)
Intron 27 Splice Site never used c.2146+3A>C p.? Pathogenic Nagel (2005)
Intron 27 Splice Site 2349-3C>G c.2147-3C>G p.? Pathogenic Martin (1998)
Intron 27 Splice Site never used c.2147-2A>G p.? Pathogenic Nagel (2005)
Exon 28 Deletion 2349delG c.2147del p.Gly716fs Pathogenic Martin (1998)
Exon 28-32 Large Duplication never used c.2147-?_ 2767+?dup p.? Pathogenic Lemmink (1997)
Exon 28 Missense never used c.2155G>C p.Gly719Arg Pathogenic Pont-Kingdon (2009)
Exon 28 Missense never used c.2164G>C p.Gly722Arg Pathogenic Ma (2011)
Exon 28 Missense 2367G>A c.2165G>A p.Gly722Glu Pathogenic Barker (2001)
Exon 28 Deletion 2408_2428del21 c.2207_2227del21 p.Glu736_Pro742del Pathogenic King (2006)
Exon 28 Missense never used c.2215C>T p.Pro739Ser Pathogenic Cheong (2000)
Exon 28 Missense 2421G>A c.2219G>A p.Gly740Glu Pathogenic Kawai (1996)
Exon 28 Missense 2430G>A c.2228G>A p.Gly743Asp Pathogenic Plant (1999)
Intron 28 Splice Site c.2446+1G>T c.2244+1G>T p.? Pathogenic Bekheirnia (2010)
Intron 28 Splice Site 2446+2T>C c.2244+2T>G p.? Pathogenic King (2006)
Intron 28 Splice Site 2447-1G>A c.2245-1G>A p.? Pathogenic Martin (1998)
Exon 29 Missense never used c.2287G>A p.Gly763Arg Pathogenic Nagel (2005)
Exon 29 Missense never used c.2288G>A p.Gly763Glu Pathogenic Pont-Kingdon (2009)
Exon 29 Missense 2499G>A c.2297G>A p.Gly766Asp Pathogenic Hertz (2001)
Exon 29 Missense never used c.2305G>A p.Gly769Arg Pathogenic Bekheirnia (2010)
Exon 29 Missense 2517G>A c.2315G>A p.Gly772Asp Pathogenic Kawai (1996)
Exon 29 Missense never used c.2315G>C p.Gly772Ala Pathogenic Bekheirnia (2010)
Exon 29 Insertion 2524_2525insA c.2322dup p.Gly775fs Pathogenic Hertz (2001)
Exon 29 Missense 2534G>A c.2332G>A p.Gly776Ser Pathogenic Plant (1999)
Exon 29 Deletion 2550delC c.2348delC p.Pro783fs Pathogenic Martin (1998)
Exon 29 Silent 2551G>A c.2349G>A p.= Benign Barker (2001)
Exon 29 Missense 2562G>T c.2360G>T p.Gly787Val Pathogenic King (2006)
Exon 29 Missense 2588G>A c.2386G>A p.Gly796Arg Pathogenic Plant (1999)
Exon 29 Splice Site c.2596A>G c. 2394A>G p.? Pathogenic Bekheirnia (2010)
Intron 29 Splice Site 2597+2delT c.2395+2delT p.? Pathogenic Renieri (1996)
Intron 29 Splice site c.2395+2750 A>G c.2395+2750 A>G p.? Pathogenic King (2002)
Exon 30 Deletion 2606-2623del c.2404-2421del18 p.Gly802_Pro807del Pathogenic Hertz (2001)
Exon 30 Missense 2606G>A c.2404G>A p.Gly802Arg Pathogenic Knebelmann (1996)
Exon 30 Missense 2625G>A c.2423G>A p.Gly808Glu Pathogenic Plant (1999)
Exon 30 Missense 2633G>A c.2431G>A p.Gly811Arg Pathogenic Slajpah (2007)
Exon 30 Missense 2634G>T c.2432G>T p.Gly811Val Pathogenic Knebelmann (1996)
Exon 30 Indel 2636delCCTCCTGG
insAACCTGGACCAA
TGGGACCAATGGGA
ACAC;2636del8ins30
c.2434_2441deli
nsAACCTGGACCAAT
GGGACCAATGGGAA
CAC
p.Pro812fs Pathogenic Martin (1998)
Exon 30 Indel 2654_2656delATA/
2653_2654insT
c.2452_2454delinsT p.Ile818fs Pathogenic Hertz (2001)
Exon 30 Deletion 2666_2674del9 c.2475_2483del p.Pro826_Gly828del Pathogenic Plant (1999)
Exon 30 Missense 2666G>C c.2464G>C p.Gly822Arg Pathogenic Cruz-Robles (1999)
Exon 30 Missense never used c.2465G>C p.Gly822Val Pathogenic Jovanovic direct submission
Exon 30 Nonsense never used c.2473G>T p.Gly825X Pathogenic Tan (2010)
Exon 30 Deletion never used c.2477del p.Pro826fs Pathogenic Pont-Kingdon (2009)
Exon 30 Missense never used c.2483G>A p.Gly828Glu Pathogenic Ma (2011)
Exon 30 Missense never used c.2500G>C p.Gly834Arg Pathogenic Bekheirnia (2010)
Exon 30 Splice Site never used c.2509G>A p.? Pathogenic Tazon-Vega (2007)
Intron 30 Splice Site 2712-33A>G c.2510-33A>G p.? Pathogenic Barker (2001)
Exon 31 Deletion 2712delG c.2510del p.Gly837fs Pathogenic King (2006)
Exon 31-36 Large Deletion never used c2510-?_3246+?del p.? Pathogenic King (2006)
Exon 31 Large Deletion c.2712-?_2789+?del c.2510-?_2677+?del p.? Pathogenic Bekheirnia (2010)
Exon 31 Deletion 2752_2775del c.2550_2573del p.Pro851_Pro858del Pathogenic Wang (2005)
Exon 31 Missense 2756G>A c.2554G>A p.Gly852Arg Pathogenic Kawai (1996)
Exon 31 Missense 2757G>A c.2555G>A p.Gly852Glu Pathogenic Plant (1999)
Exon 31 Missense never used c.2578G>C p.Gly860Arg Pathogenic Bekheirnia (2010)
Exon 31 Indel never used c.2587_2606delins75 p.? Pathogenic Ma (2011)
Exon 31 Deletion 2791del36 c.2590_2625del p.Ser864_Gly875del Pathogenic Martin (2000)
Exon 31 Deletion 2797-2814del18 c.2595_2612del p.Gly866_Pro871del Pathogenic Gross (2002)
Exon 31 Missense 2799G>A c.2597G>A p.Gly866Glu Pathogenic Renieri (1996)
Exon 31 Missense 2807G>A c.2605G>A p.Gly869Arg Pathogenic Plant (1999)
Exon 31 Missense 2816G>C c.2614G>C p.Gly872Arg Pathogenic Plant (1999)
Exon 31 Missense never used c.2623G>C p.Gly875Arg Pathogenic Ma (2011)
Exon 31 Missense never used c.2624G>A p.Gly875Glu Pathogenic Tazon-Vega (2007)
Exon 31 Deletion 2827delA c.2625del p.Gly875fs Pathogenic Plant (1999)
Exon 31 Missense 2835G>T c.2633G>T p.Gly878Val Pathogenic Plant (1999)
Exon 31 Deletion 2845delG c.2643del p.Leu882fs Pathogenic Barker (2001)
Exon 31 Missense never used c.2659G>C p.Gly887Arg Pathogenic Bekheirnia (2010)
Exon 31 Missense never used c.2660G>T p.Gly887Val Pathogenic Nagel (2005)
Intron 31 Splice site never used c.2678-10 T>G p.Gly893_Gly923 del Pathogenic King (2002)
Exon 32 Missense never used p.2678G>T p.Gly893Val Pathogenic Bekheirnia (2010)
Exon 32-36 Large Deletion never used c.2678-?_3246+?del p.? Pathogenic Bekheirnia (2010)
Exon 32 Deletion c.2888delG c.2687del p.Gly896fs Pathogenic Bekheirnia (2010)
Exon 32 Missense 2894A>G c.2692A>G p.Met898Val Uncertain Barker (2001)
Exon 32 Deletion never used c.2696_2705del p.Gly899fs Pathogenic Zhang (2011)
Exon 32 Missense never used c.2696G>T p.Gly899Val Pathogenic Ma (2011)
Exon 32 Missense never used c.2705G>T p.Gly902Val Pathogenic Cheong (2000)
Exon 32 Insertion never used c.2708dup p.Pro904fs Pathogenic Tazon-Vega (2007)
Exon 32 Missense never used c.2722G>A p.Gly908Arg Pathogenic Tan (2010)
Exon 32 Missense never used c.2731G>A p.Gly911Arg Pathogenic Bekheirnia (2010)
Exon 32 Missense never used c.2732G>A p.Gly911Glu Pathogenic Cheong (2000)
Exon 32 Indel 2948del13insAT c.2746del13insAT p.Ser916fs Pathogenic Plant (1999)
Exon 32 Missense 2948A>G c.2746A>G p.Ser916Gly Pathogenic Barker (2001)
Intron 32 Splice site never used c.2767+2delT p.? Pathogenic Tazon-Vega (2007)
Intron 32 Splice Site 2970-11A>G c.2768-11A>G p.? Benign Barker (2001)
Exon 33 Nonsense never used c.2782C>T p.Gln928X Pathogenic Bekheirnia (2010)
Exon 33 Nonsense 2990C>T c.2788C>T p.Gln930X Pathogenic Wang (2005)
Exon 33 Insertion 3004_3005insT c.2802dup p.Gly935fs Pathogenic Hertz (2001)
Exon 33 Missense never used c.2804G>A p.Gly935Asp Pathogenic Nagel (2005)
Exon 33 Missense 3023G>T c.2821G>T p.Gly941Cys Pathogenic Hertz (2001)
Exon 33 Deletion 3025delTAG c.2825_2827del p.Ser942del Pathogenic Renieri (1996)
Exon 33 Missense 3042 G>A c.2840G>A p.Gly947Asp Pathogenic Inoue (1999)
Exon 33 Deletion 3048delC c.2846del p.Pro949fs Pathogenic King (2006)
Exon 33 Missense 3060G>T c.2858G>T p.Gly953Val Pathogenic-uncertain Knebelmann (1996)
Intron 33 Splice Site 3119+1G>C c.2917+1G>C p.? Pathogenic Knebelmann (1996)
Intron 33 Splice Site c.3119+1G>T c.2917+1G>T p.? Pathogenic Bekheirnia (2010)
Intron 33 Splice Site 3120-1G>T c.2918-1G>T p.? Pathogenic Knebelmann (1996)
Exon 34-51 Large Deletion never used c.2918-?_5058+?del p.? Pathogenic Lemmink (1997)
Exon 34 Deletion 3131delAG c.2928_2929del p.Val977fs Pathogenic Plant (1999)
Exon 34 Deletion 3145delA c.2943del p.Lys981fs Pathogenic Peissel (1994)
Exon 34 Deletion never used c.2947del p.Tyr983fs Pathogenic Demosthenous (2012)
Exon 34 Deletion 3161_3178del18 c.2965_2982del p.Asp989_Gly994del Pathogenic Plant (1999)
Exon 34 Deletion 3167delG c.2965del p.Asp989fs Pathogenic Lemmink (1997)
Exon 34 Missense never used c.2999G>T p.Gly1000Val Benign Kaneko (2010)
Intron 34 Splice Site 3218+1G>T c.3016+1G>T p.? Pathogenic Barker (2001)
Intron 34 Splice Site never used c.3017-4A>G p.? Uncertain Ma (2011)
Intron 34 Splice Site 3219-1G>A c.3017-1G>A p.? Pathogenic Barker (2001)
Exon 35 Missense 3219G>T c.3017G>T p.Gly1006Val Pathogenic Barker (2001)
Exon 35-36 Large Deletion never used c.3017-?_3246+?del p.? Pathogenic King (2006)
Exon 35 Missense 3246G>T c.3044G>T p.Gly1015Val Pathogenic Knebelmann (1996)
Exon 35 Nonsense 3248C>T c.3046C>T p.Gln1016X Pathogenic Knebelmann (1996)
Exon 35 Deletion never used c.3046del p.Gln1016fs Pathogenic Ma (2011)
Exon 35 Deletion 3259delT c.3057del p.Leu1019fs Pathogenic Knebelmann (1996)
Exon 35 Missense 3282G>T c.3080G>T p.Gly1027Val Pathogenic Wang (2005)
Exon 35 Missense 3290G>A c.3088G>A p.Gly1030Ser Pathogenic Martin (1998)
Intron 35 Splice Site never used c.3106+4del; 3106+6_17del p.? Pathogenic Nagel (2005)
Intron 35 Splice Site 3309-2A>G c.3107-2A>G p.? Pathogenic Hertz (2001)
Exon 36 Missense 3309G>T c.3107G>T p.Gly1036Val Pathogenic Knebelmann (1996)
Exon 36 Missense 3317G>A c.3115G>A p.Gly1039Ser Pathogenic Knebelmann (1996)
Exon 36 Missense 3336G>A c.3134G>A p.Gly1045Glu Pathogenic Martin (2000)
Exon 36 Deletion c.3369delC c.3167del p.Pro1056fs Pathogenic Bekheirnia (2010)
Exon 36 Nonsense 3371G>T c.3169G>T p.Gly1057X Pathogenic Knebelmann (1996)
Exon 36 Nonsense 3380G>T c.3178G>T p.Gly1060X Pathogenic Martin (1998)
Exon 36 Nonsense 3383C>T c.3181C>T p.Gln1061X Pathogenic Plant (1999)
Exon 36 Missense never used c.3188G>T p.Gly1063Val Pathogenic Nagel (2005)
Exon 36 Missense 3398G>C c.3196G>C p.Gly1066Arg Pathogenic Knebelmann (1996)
Exon 36 Missense 3398G>A c.3196G>A p.Gly1066Ser Pathogenic Martin (1998)
Exon 36 Missense 3399G>C c.3197G>C p.Gly1066Ala Pathogenic Barker (2001)
Exon 36 Missense never used c.3206G>T p.Gly1069Val Pathogenic Bekheirnia (2010)
Exon 36 Nonsense 3414C>G c.3212C>G p.Ser1071X Pathogenic Hertz (2001)
Exon 36 Missense never used c.3247G>A p.Gly1083Ser Pathogenic Nagel (2005)
Exon 37 Deletion never used c.3247-?_ 3373+?del p.? Pathogenic Tazon-Vega (2007)
Exon 37-45 Large Deletion never used c3247-?_4198+?del p.? Pathogenic Plant (1999)
Exon 37-51 Large Deletion never used c.3247-?_ 5058+?del p.? Pathogenic Nozu (2008)
Exon 37 Large Deletion never used c.3247-?_3373+?del p.? Pathogenic Bekheirnia (2010)
Exon 37 Silent 3457G>A c.3255T>A p.= Benign Inoue (1999)
Exon 37 Missense never used c.3256G>C p.Gly1086Arg Pathogenic Tazon-Vega (2007)
Exon 37 Missense 3459G>A c.3257G>A p.Gly1086Asp Pathogenic Martin (2000)
Exon 37 Nonsense 3491A>T c.3289A>T p.Lys1097X Pathogenic Martin (1998)
Exon 37 Missense 3513G>T c.3311G>T p.Gly1104Val Pathogenic Kawai (1996)
Exon 37 Missense 3521G>A c.3319G>A p.Gly1107Arg Pathogenic Plant (1999)
Exon 37 Insertion c.3528insT c.3326_3327insT p.Gly1110fs Pathogenic Bekheirnia (2010)
Exon 37 Deletion 3533delA c.3331del p.Thr1111fs Pathogenic Renieri (1996)
Exon 37 Insertion 3539_3540insCCTG c.3334_3337dup p.Gly1113fs Pathogenic Renieri (1996)
Exon 37 Missense never used c.3347G>T p.Gly1116Val Pathogenic Bekheirnia (2010)
Intron 37 Splice Site c.3575+1G>A c.3373+1G>A p.? Pathogenic Bekheirnia (2010)
Intron 37 Splice Site 3576-11C>A c.3374-11C>A p.? Pathogenic Martin (2000)
Exon 38-41 Large Deletion never used c.3374-?_3790+?del p.? Pathogenic Plant (1999)
Exon 38-46 Insertion never used not available p.? Pathogenic Lemmink (1997)
Exon 38-51 Large Deletion never used c.3374-?_5058+?del p.? Pathogenic Lemmink (1997)
Exon 38-51 Large Duplication never used c.3374-?_ 5058+?dup p.? Pathogenic Lemmink (1997)
Exon 38 Indel c.3605del16ins3 c.3403_3418delins3 p.Ile1135fs Pathogenic Bekheirnia (2010)
Exon 38 Deletion 3615delC c.3413del p.Pro1138fs Pathogenic Slajpah (2007)
Exon 38 Missense 3629G>A c.3427G>A p.Gly1143Ser Moderate Renieri (1996)
Exon 38 Missense 3630G>A c.3428G>A p.Gly1143Asp Pathogenic Hertz (2001)
Intron 38 Splice Site 3656+1G>T c.3454+1G>T p.? Pathogenic Hertz (2001)
Intron 38 Splice Site 3657-9A>G c.3455-9A>G p.? Pathogenic Martin (2000)
Exon 39 Missense 3674G>A c.3472G>A p.Gly1158Arg Pathogenic Inoue (1999)
Exon 39 Deletion 3676delG c.3474del p.Gly1158fs Pathogenic Hertz (2001)
Exon 39 Missense 3683G>A c.3481G>A p.Gly1161Arg Pathogenic Plant (1999)
Exon 39 Missense 3701G>A c.3499G>A p.Gly1167Ser Pathogenic Martin (2000)
Exon 39 Missense 3710G>A c.3508G>A p.Gly1170Ser Pathogenic Inoue (1999)
Exon 39 Deletion 3711delG c.3509del p.Gly1170fs Pathogenic Renieri (1996)
Exon 39 Silent 3715A>G c.3513A>G p.= Benign Barker (2001)
Exon 39 Deletion 3729delG c.3527del p.Gly1176fs Pathogenic Martin (1998)
Exon 39 Missense never used c.3535G>A p.Gly1179Arg Pathogenic Nagel (2005)
Exon 39 Nonsense 3740C>T c.3538C>T p.Gln1180X Pathogenic Knebelmann (1996)
Exon 39 Deletion 3745_3751
delGGGTGAA
c.3543_3549del p.Lys1181fs Pathogenic Renieri (1996)
Exon 39 Missense 3746G>C c.3544G>C p.Gly1182Arg Pathogenic Kawai (1996)
Intron 39 Splice Site 3756-9C>G c.3554-9C>G p.? Pathogenic Martin (1998)
Intron 39 Splice Site 3756-3C>G c.3554-3C>G p.? Pathogenic Martin (1998)
Intron 39 Splice Site 3756-1G>A c.3554-1G>A p.? Pathogenic Knebelmann (1996)
Exon 40 Deletion never used c.3554-?_3604+?del p.? Pathogenic Lemmink (1997)
Exon 40 Silent 3784G>A c.3582C>T p.= Benign Inoue (1999)
Exon 40 Missense 3788G>A c.3586G>A p.Gly1196Arg Pathogenic Martin (1998)
Exon 40 Missense never used c.3587G>A p.Gly1196Glu Pathogenic Bekheirnia (2010)
Intron 40 Splice Site never used c.3604+3A>T p.? Pathogenic Nagel (2005)
Intron 40 Splice Site 3807-3A>T c.3605-3A>T p.? Pathogenic Knebelmann (1996)
Intron 40 Splice Site 3807-2A>G c.3605-2A>G p.? Pathogenic Gross (2002)
Intron 40 Splice Site 3807-1G>A c.3605-1G>A p.? Pathogenic Knebelmann (1996)
Exon 41-51 Large Deletion never used c.3605-?_5058+?del p.? Pathogenic Plant (1999)
Exon 41 Missense 3815G>T c.3613G>T p.Gly1205Cys Pathogenic Knebelmann (1996)
Exon 41 Missense never used c.3613G>A p.Gly1205Ser Pathogenic Bekheirnia (2010)
Exon 41 Deletion 3820_3824delTGGA c.3618_3622del p.Asp1206fs Pathogenic Renieri (1996)
Exon 41 Missense 3833G>C c.3631G>C p.Gly1211Arg Pathogenic Plant (1999)
Exon 41 Missense 3834G>A c.3632G>A p.Gly1211Glu Pathogenic Knebelmann (1996)
Exon 41 Missense never used c.3641G>A p.Gly1214Glu Pathogenic Nagel (2005)
Exon 41 Deletion 3849delC c.3647del p.Pro1216fs Pathogenic Knebelmann (1996)
Exon 41 Deletion 3859_3930del c.3657_3728del p.Gly1220_Pro1243del Pathogenic Hertz (2001)
Exon 41 Missense 3861G>A c.3659G>A p.Gly1220Asp Pathogenic Plant (1999)
Exon 41 Missense never used c.3668G>T p.Gly1223Val Pathogenic Nagel (2005)
Exon 41 Missense never used c.3686G>A p.Gly1229Asp Pathogenic Cheong (2000)
Exon 41 Deletion 3894delC c.3692del p.Pro1231fs Pathogenic Knebelmann (1996)
Exon 41 Insertion c.3894insC c.3692dup p.Gly1232fs Pathogenic Bekheirnia (2010)
Exon 41 Missense 3896G>A c.3694G>A p.Gly1232Ser Pathogenic Wang (2005)
Exon 41 Nonsense never used c.3700C>T p.Gln1234X Pathogenic Pont-Kingdon (2009)
Exon 41 Indel c.3908_3924delinsT c.3706_3722delinsT p.Pro1236fs Pathogenic Bekheirnia (2010)
Exon 41 Deletion 3912del52 c.3710_3761del p.Pro1237fs Pathogenic Kawai (1996)
Exon 41 Insertion 3912_3913insCC c.3709_3710dup p.Gly1238fs Pathogenic Plant (1999)
Exon 41 Missense 3923 G>T c.3721G>T p.Gly1241Cys Pathogenic Lemmink (1997)
Exon 41 Missense never used c.3722G>T p.Gly1241Val Pathogenic Bekheirnia (2010)
Exon 41 Missense 3933G>A c.3731G>A p.Gly1244Asp Pathogenic Barker (2001)
Exon 41 Missense 3956G>A c.3754G>A p.Gly1252Ser Pathogenic Knebelmann (1996)
Exon 41 Insertion 3959_3960insGGCA c.3754_3757dup p.Asn1253fs Pathogenic Kawai (1996)
Exon 41 Missense 3965G>A c.3763G>A p.Gly1255Arg Pathogenic Hertz (2001)
Exon 41 Missense 3984G>A c.3782G>A p.Gly1261Glu Pathogenic Martin (1998)
Intron 41 Splice Site 3992+1delG c.3790+1delG p.? Pathogenic Knebelmann (1996)
Exon 42-47 Large Deletion never used c.3791-?_4510+?del p.? Pathogenic Lemmink (1997)
Exon 42 Missense 4010G>A c.3808G>A p.Gly1270Ser Pathogenic Hertz (2001)
Exon 42 Deletion 4016delC c.3815del p.Pro1272fs Pathogenic Renieri (1996)
Exon 42 Indel never used c.3837_3845del; 3854insA p.? Pathogenic Zhang (2011)
Exon 42 Insertion never used c.3866_3869dup p.? Pathogenic Tazon-Vega (2007)
Exon 42 Deletion 4122delT c.3920del p.Leu1307fs Pathogenic Knebelmann (1996)
Exon 42 Missense never used c.3924G>C p.Gln1308His Pathogenic Bekheirnia (2010)
Intron 42 Splice Site 4126+1G>C c.3924+1G>C p.? Pathogenic Cruz-Robles (1999)
Intron 42 Splice Site never used c.3925-2A>G p.? Pathogenic Nagel (2005)
Intron 42 Splice Site 4127-1G>A c.3925-1G>A p.? Pathogenic Plant (1999)
Exon 43-44 Large Deletion never used c.3925-?_4069+?del p.? Pathogenic Barker (2001)
Exon 43 Nonsense never used c.3958A>T p.Lys1320X Pathogenic Minucci (2007)
Exon 43 Deletion 4194delT c.3992del p.Phe1331fs Pathogenic Renieri (1996)
Exon 43 Missense 4199G>A c.3997G>A p.Gly1333Ser Pathogenic Plant (1999)
Intron 43 Splice Site never used c.3998-2A>T p.? Pathogenic Krol (2008)
Intron 43 Splice Site 4200-2A>G c.3998-2A>G p.? Pathogenic Renieri (1996)
Exon 44 Nonsense never used c.4006G>T p.Gly1336X Pathogenic Tan (2010)
Exon 44 Deletion 4245del6 4241G>A c.4043del6; 4039G>A p.Pro1350_Gly1351del; p.Gly1348Glu Pathogenic Renieri (1996)
Exon 44 Missense 4271G>A c.4069G>A p.Gly1357Ser Pathogenic Martin (1998)
Intron 44 Splice Site 4271+1G>A c.4069+1G>A p.? Pathogenic Plant (1999)
Exon 45-51 Large Deletion never used c.4070-?_5058+?del p.? Pathogenic Lemmink (1997)
Exon 45 Deletion 4273delT c.4071del p.Pro1358fs Pathogenic Knebelmann (1996)
Exon 45 Deletion 4304_4305delAG c.4102_4103del p.Ser1368fs Pathogenic Plant (1999)
Exon 45 Missense 4338G>T c.4136G>T p.Gly1379Val Pathogenic Renieri (1996)
Exon 45 Nonsense never used c.4147C>T p.Gln1383X Pathogenic Bekheirnia (2010)
Exon 45 Insertion 4363_4364insTCCT c.4161_4162insTCCT p.Gly1388fs Pathogenic Renieri (1996)
Exon 45 Nonsense never used c.4171G>T p.Gly1391X Pathogenic Bekheirnia (2010)
Exon 45 Nonsense 4379 C>T c.4177 C>T p.Gln1393X Pathogenic Inoue (1999)
Exon 45 Deletion c.4379delC c.4177del p.Gln1393fs Pathogenic Pont-Kingdon (2009)
Exon 45 Insertion 4398_4399insC c.4196dup p.Gly1400fs Pathogenic Gross (2002)
Intron 45 Splice Site 4401-1G>A c.4199-1G>A p.? Pathogenic Gross (2002)
Exon 46-47 Indel ins10-15kb; del25kb ins10-15kb (intron 46);
del25kb
p.? Pathogenic Lemmink (1997)
Exon 46-51 Large Deletion never used c.4199-?_5058+?del p.? Pathogenic King (2006)
Exon 46 Insertion 4416insC c.4214dup p.Gly1406fs Pathogenic Ermisch (2000)
Exon 46 Missense 4430C>T c.4228C>T p.Arg1410Cys Uncertain Renieri (1996)
Exon 46 Deletion never used c.4235del p.Gly1412fs Pathogenic Ma (2011)
Exon 46 Silent 4441C>T c.4239C>T p.= Benign Kawai (1996)
Exon 46 Indel 4455_4464del
dup4465_4482
c.4253_4262del;
4263_4280dup
p.Gly1420fs Pathogenic Hertz (2001)
Exon 46 Missense 4463G>T c.4261G>T p.Gly1421Trp Pathogenic Renieri (1996)
Exon 46 Missense never used c.4271G>A p.Gly1424Glu Pathogenic Zhang (2011)
Exon 46 Silent 4477C>T c.4275C>T p.= Benign Barker (2001)
Exon 46 Missense never used c.4279G>T p.Gly1427Cys Pathogenic Nagel (2005)
Exon 46 Missense never used c.4280G>C p.Gly1427Ala Pathogenic Ma (2011)
Exon 46 Missense 4482G>T c.4280G>T p.Gly1427Val Pathogenic Plant (1999)
Intron 46 Splice Site 4499+1G>A c.4297+1G>A p.? Pathogenic Wang (2005)
Intron 46 Splice Site 4500-1G>C c.4298-1G>C p.? Pathogenic Barker (2001)
Exon 47 Missense never used c.4298G>T p.Gly1433Val Pathogenic Ma (2011)
Exon 47-51 Large Deletion never used c.4298-?_5058+?del p.? Pathogenic Nagel (2005)
Exon 47 Insertion 4517_4552dup
GGTCCCCCTGGTCC
AGATGGATTGCAAGGT
CCCCCA
c.4315_4350dup p.Gly1439_Pro1450dup Pathogenic Renieri (1996)
Exon 47 Missense 4526G>C c.4324G>C p.Gly1442Arg Pathogenic King (2006)
Exon 47 Missense never used c.4325G>C p.Gly1442Ala Pathogenic Hopker (2009)
Exon 47 Missense 4527G>A c.4325G>A p.Gly1442Asp Pathogenic Plant (1999)
Exon 47 Deletion never used c.4329_4355 del p. Asp1444_Pro1452del Pathogenic Tazon-Vega (2007)
Exon 47 Missense 4544G>A c.4342G>A p.Gly1448Ser Pathogenic Wang (2005)
Exon 47 Insertion 4546_4547insT c.4344dup p.Pro1449fs Pathogenic Renieri (1996)
Exon 47 Deletion never used c.4349del p.Pro1450fs Pathogenic Nagel (2005)
Exon 47 Missense 4553G>A c.4351G>A p.Gly1451Ser Pathogenic Lemmink (1997)
Exon 47 Deletion 4638_4639delGA c.4436_4437del p.Gly1479fs Pathogenic Hertz (2001)
Exon 47 Deletion 4639delA c.4437del p.Gly1479fs Pathogenic Plant (1999)
Exon 47 Missense never used c.4439C>G p.Thr1480Arg Pathogenic Ma (2011)
Exon 47 Missense 4659G>C c.4457G>C p.Gly1486Ala Pathogenic Plant (1999)
Exon 47 Missense 4665C>T c.4463C>T p.Ser1488Phe Pathogenic Knebelmann (1996)
Exon 47 Deletion 4693delAG c.4491_4492del p.Arg1497fs Pathogenic Inoue (1999)
Exon 47 Missense 4686C>A c.4493C>A p.Ala1498Asp Pathogenic Lemmink (1997)
Exon 47 Nonsense never used c.4501C>T p.Gln1501X Pathogenic Bekheirnia (2010)
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)
Intron 47 Splice Site 4712+1G>C c.4510+1G>C p.? Pathogenic Kawai (1996)
Exon 48 Deletion c.4715delA c.4513del p.Thr1505fs Pathogenic Bekheirnia (2010)
Exon 48 Indel never used c.4514_4529
delinsTTTCATCT
p.Thr1505fs Pathogenic Nagel (2005)
Exon 48 Missense never used c.4532G>A p. Arg1511His Uncertain Cheong (2000)
Exon 48 Missense 4751C>A c.4549C>A p.Pro1517Thr Uncertain Renieri (1996)
Exon 48 Nonsense 4765C>A c.4563C>A p.Cys1521X Pathogenic Hertz (2001)
Exon 48 Missense 4815G>C c.4613G>C p.Trp1538Ser Pathogenic Lemmink (1997)
Exon 48 Nonsense 4816G>A c.4614G>A p.Trp1538X Pathogenic Knebelmann (1996)
Exon 48 Missense 4877C>G c.4675C>G p.Pro1559Ala Benign Plant (1999)
Exon 48 Deletion c.4887_4890del4 c.4685del4 p.Ser1562fs Pathogenic Bekheirnia (2010)
Exon 48 Nonsense 4889C>T c.4687C>T p.Arg1563X Pathogenic Knebelmann (1996)
Exon 48 Missense 4890G>A c.4688G>A p.Arg1563Gln Pathogenic Gross (2002)
Intron 48 Indel c.4891-30del22insCA c.4689-30_4689-9
delinsCA
p.? Pathogenic Bekheirnia (2010)
Exon 49 Splice Site 4891-3del32 c.4689-3_4717del p.? Pathogenic Kawai (1996)
Exon 49-51 Large Deletion never used c.4689-?_5058+?del p.? Pathogenic Lemmink (1997)
Exon 49 Missense never used c.4690T>C p.Cys1564Arg Pathogenic Pont-Kingdon (2009)
Exon 49 Missense 4893G>C c.4691G>C p.Cys1564Ser Pathogenic Zhou (1991)
Exon 49 Missense 4901T>C c.4699T>C p.Cys1567Arg Pathogenic Knebelmann (1996)
Exon 49 Missense never used c.4702G>A p.Glu1568Gln Pathogenic Tan (2010)
Exon 49 Deletion 4952_4958del7 c.4750_4756del p.Pro1584fs Pathogenic Plant (1999)
Exon 49 Missense never used c.4751C>T p.Pro1584Leu Pathogenic Pont-Kingdon (2009)
Exon 49 Missense 4958T>C c.4756T>C p.Cys1586Arg Pathogenic Hertz (2001)
Exon 49 Missense 4959G>T c.4757G>T p.Cys1586Phe Pathogenic Wang (2005)
Exon 49 Missense 4970T>G c.4768T>G p.Trp1590Gly Pathogenic King (2006)
Exon 49 Deletion never used c.4780_4781del p.Trp1594fs Pathogenic Ma (2011)
Exon 49 Missense 4989G>A c.4787G>A p.Gly1596Asp Pathogenic Renieri (1996)
Exon 49 Missense 4968G>T c.4766G>T p.Gly1589Val Pathogenic King (2006)
Exon 49 Missense 4992A>G c.4790A>G p.Tyr1597Cys Pathogenic Gross (2002)
Exon 49 Nonsense 4993T>A c.4791T>A p.Tyr1597X Pathogenic Martin (1998)
Exon 49 Missense 5005G>A c.4803G>A p.Met1601Ile Pathogenic Plant (1999)
Intron 49 Splice Site 5005+1ins10 c.4803+1ins10 p.? Pathogenic Lemmink (1997)
Intron 49 Splice Site 5005+1G>A c.4803+1G>A p.? Pathogenic Knebelmann (1996)
Intron 49 Splice Site 5005+121T>C c.4803+121T>C p.? Pathogenic Shimizu (2006)
Intron 49 Splice Site 5006-151_150insT c.4804-151_150insT p.? Pathogenic Shimizu (2006)
Exon 50 Deletion 5034delG c.4832del p.Gly1611fs Pathogenic Renieri (1996)
Exon 50 Missense never used c.4894T>G p.Cys1632Gly Pathogenic Bekheirnia (2010)
Exon 50 Missense 5115G>A c.4913G>A p.Cys1638Tyr Moderate Wilson (2007)
Exon 50 Insertion never used c.4942dup p.Trp1648fs Pathogenic Ma (2011)
Exon 50 Missense 5148T>G c.4946T>G p.Leu1649Arg Pathogenic Barker (1996)
Exon 50 Deletion 5170 delC c.4968del p.Asp1656fs Pathogenic Inoue (1999)
Exon 50 Missense 5178G>A c.4976G>A p.Ser1659Asn Pathogenic Knebelmann (1996)
Intron 50 Splice Site c.5179-2A>G c.4977-2A>G p.? Pathogenic Bekheirnia (2010)
Exon 51 Deletion 5196_5203del8 c.4994_5001del p.Thr1665fs Pathogenic Plant (1999)
Exon 51 Nonsense never used c.5020C>T p.Arg1674X Pathogenic Bekheirnia (2010)
Exon 51 Nonsense 5231C>T c.5029C>T p.Arg1677X Pathogenic Martin (1998)
Exon 51 Missense 5232G>A c.5030G>A p.Arg1677Gln Pathogenic Barker (1997)
Exon 51 Missense 5232G>C c.5030G>C p.Arg1677Pro Pathogenic Barker (2001)
Exon 51 Missense never used c.5030G>T p.Arg1677Leu Pathogenic Ma (2011)
Exon 51 Missense 5234T>C c.5032T>C p.Cys1678Arg Pathogenic Gross (2002)
Exon 51 Deletion 5236delT c.5034del p.Gln1679fs Pathogenic Martin (2000)
Exon 51 Missense 5236T>G c.5034T>G p.Cys1678Trp Pathogenic Inoue (1999)
Exon 51 Missense 5244G>T c.5042G>T p.Cys1681Phe Pathogenic Wang (2005)
3'UTR Insertion c.5309_5310insA c.5058+48*dup p.? Uncertain Bekheirnia (2010)
Exon 04 Missense never used c.262C>T p.Pro88Ser Uncertain Wang (2012)
Exon 06 Missense never used c.367G>A p.Gly123Arg Pathogenic Wang (2012)
Exon 12 Missense never used c.647G>A p.Gly216Glu Pathogenic Wang (2012)
Exon 13 Missense never used c.715G>A p.Gly239Arg Pathogenic Wang (2012)
Exon 17 Missense never used c.965G>A p.Gly322Asp Pathogenic Wang (2012)
Exon 23 Missense never used c.1579G>A p.Gly527Arg Pathogenic Wang (2012)
Exon 25 Missense never used c.1843G>C p.Gly615Arg Pathogenic Wang (2012)
Exon 25 Missense never used c.1913G>A p.Gly638Asp Pathogenic Wang (2012)
Exon 25 Missense never used c.1948G>A p.Gly650Ser Pathogenic Wang (2012)
Exon 27 Missense never used c.2095G>A p.Gly699Arg Pathogenic Wang (2012)
Exon 28 Missense never used c.2156G>T p.Gly719Val Pathogenic Wang (2012)
Exon 28 Missense never used c.2215C>G p.Pro739Ala Uncertain Wang (2012)
Exon 32 Missense never used c.2705G>A p.Gly902Glu Pathogenic Wang (2012)
Exon 32 Missense never used c.2714G>A p.Gly905Asp Pathogenic Wang (2012)
Exon 39 Missense never used c.3526G>A p.Gly1176Arg Pathogenic Wang (2012)
Exon 41 Missense never used c.3650G>A p.Gly1217Asp Pathogenic Wang (2012)
Exon 41 Missense never used c.3668G>A p.Gly1223Asp Pathogenic Wang (2012)
Exon 41 Missense never used c.3685G>A p.Gly1229Ser Pathogenic Wang (2012)
Exon 44 Missense never used c.4024G>A p.Gly1342Arg Pathogenic Wang (2012)
Exon 47 Missense never used c.4427G>T p.Cys1476Phe Pathogenic Wang (2012)
Exon 49 Missense never used c.4700G>C p.CYs1567Ser Pathogenic Wang (2012)
Exon 50 Missense never used c.4862T>C p.Leu1621Ser Pathogenic Wang (2012)
Exon 51 Missense never used c.5036A>C p.Gln1679Pro Pathogenic Wang (2012)
Exon 29 Missense (or splice site) never used c.2387G>T p.Gly796Val (or p.?) Pathogenic Wang (2012)
Exon 06 Splice Site never used c.384G>A p.Gly108-Lys128del Pathogenic Wang (2012)
Exon 29 Missense (or splice site) never used c.2306G>T p.Gly769Val (or p.?) Pathogenic Wang (2012)
Exon 31 Missense (or splice site) never used c.2677G>A p.Gly893Ser (or p.?) Pathogenic Wang (2012)
Exon 45 Splice site never used c.4198_4198+1del p.? Pathogenic Wang (2012)
intron 04 Splice site never used c.276+5G>T p.Gly78_Arg92 del Pathogenic Wang (2012)
Intron 12 Splice site never used c.687+2T>C p.Gly216_Lys229del Pathogenic Wang (2012)
Intron 14 Splice site never used c.834+5G>A p.Gly261_Pro278del Pathogenic Wang (2012)
Intron 19 Splice site never used c.1166-1G>A p.Ala390fs Pathogenic Wang (2012)
Intron 24 Splice Site never used c.1779+1G>A p.? Pathogenic Wang (2012)
Intron 25 Splice Site never used c.1949-2A>G p.Lys664_Gly669del Pathogenic Wang (2012)
Intron 47 Splice Site never used c.4511-345A>G p.Gly1504fs Pathogenic Wang (2012)
Intron 48 Splice Site never used c.4688+4A>T p.Gly1504fs Pathogenic Wang (2012)
Exon 02 Nonsense never used c.107C>G p.Ser36X Pathogenic Wang (2012)
Exon 09 Nonsense never used c.544C>T p.Gln182X Pathogenic Wang (2012)
Exon 31 Nonsense never used c.2632G>T p.Gly878X Pathogenic Wang (2012)
Exon 49 Nonsense never used c.4782G>A p.Trp1594X Pathogenic Wang (2012)
Exon 15 Deletion never used c.863del p.Lys288fs Pathogenic Wang (2012)
Exon 22 Insertion never used c.1442dup p.Cys481fs Pathogenic Wang (2012)
Exon 26 Deletion never used c.1992_2009del p.Lys664_Gly669del Pathogenic Wang (2012)
Exon 41 Deletion never used c.3746del p.GLy1249fs Pathogenic Wang (2012)
Exon 45 Deletion never used c.4184del p.Pro1395fs Pathogenic Wang (2012)
Exon 47 Insertion never used c.4401_4402dup p.Ser1468fs Pathogenic Wang (2012)
Exon 49 Deletion never used c.4695del p.Val1566fs Pathogenic Wang (2012)
Exon 06 Indel never used c.359_363delinsATAC p.Gly120fs Pathogenic Wang (2013)
Exon 06 Missense never used c.368G>A p.Gly123Glu Pathogenic Guo (2014)
Exon 45 Missense never used c.4078G>C p.Gly1360Arg Pathogenic personal communication
Exon 01 Missense never used c.2T>A p.? Pathogenic Fallerini (2014)
Exon 03 Missense never used c.152G>T p.Gly51Val Pathogenic Fallerini (2014)
Exon 07 Missense never used c.412G>A p.Gly138Ser Pathogenic Fallerini (2014)
Exon 13 Missense never used c.698G>T p.Gly233Val Pathogenic Fallerini (2014)
Exon 14 Insertion never used c.801dup p.Pro268fs Pathogenic Fallerini (2014)
Exon 19 Missense never used c.1075G>A p.Gly359Arg Pathogenic Fallerini (2014)
Exon 23 Missense never used c.1526G>A p.Gly509Asp Pathogenic Fallerini (2014)
Exon 25 Missense never used c.1862G>T p.Gly621Val Pathogenic Fallerini (2014)
Exon 27 Missense never used c.2077G>A p.Gly693Arg Pathogenic Fallerini (2014)
Exon 28 Missense never used c.2237G>A p.Gly746Glu Pathogenic Fallerini (2014)
Exon 30 Missense never used c.2482G>A p.Gly828Arg Pathogenic Fallerini (2014)
Exon 31 Missense never used c.2546G>A p.Gly849Glu Pathogenic Fallerini (2014)
Exon 33 Deletion never used c.2831del p.Gly944fs Pathogenic Fallerini (2014)
Intron 36 Splice Site never used c.3246+1G>A p.? Pathogenic Fallerini (2014)
Exon 41 Missense never used c.3721G>C p.Gly1241Arg Pathogenic Fallerini (2014)
Exon 49 Insertion never used c.4749dup p.Pro1584fs Pathogenic Fallerini (2014)
Intron 49 Splice Site never used c.4804-2A>C p.? Pathogenic Fallerini (2014)
Exon 50 Missense never used c.4896T>G p.Cys1632Trp Likely Pathogenic Fallerini (2014)
Intron 50 Splice site never used c.4976+3A>G p.? Uncertain Fallerini (2014)
Intron 06 Splice Site never used c.384+1G>A p.? Pathogenic Mohammad (2014)
Exon 31 Missense never used c.2677G>C p.Gly893Arg Pathogenic Mohammad (2014)
Intron 29 Slpice site never used c.2396-1G>A p.? Pathogenic Beicht (2013)
Exon 08 Missense never used c.458G>A p.Gly153Asp Pathogenic Bekheirnia (2010)
Exon 18 Missense never used c.1009G>A p.Gly337Ser Pathogenic Nabai Sa (2014)
Exon 25 Missense never used c.1844G>A p.Gly615Glu Pathogenic Nabai Sa (2014)
Exon 47 Missense never used c.4342G>C p.Gly1448Arg Pathogenic Nabai Sa (2014)
Exon 33 Nonsense never used c.2815G>T p.Glu939X Pathogenic Nabai Sa (2014)
Intron 20 Splice site never used c.1339+6C>G p.? Pathogenic Nabai Sa (2014)
Exon 10 Deletion never used c.590delC p.Pro197fs Pathogenic Nabai Sa (2014)
Exon 30 Deletion never used c.2423del p.Gly808fs Pathogenic Nabai Sa (2014)
Intron 30 Splice site never used c.2510-1_2525del p.? Pathogenic Nabai Sa (2014)
Exon 01-13 Large Deletion never used c.1-?_780+?del p.? Pathogenic Nabai Sa (2014)
Exon 02-29 Large Deletion never used c.82-?_2325+?del p.? Pathogenic Nabai Sa (2014)
Exon 02-51 Large Deletion never used c.82-?_5058+?del p.? Pathogenic Nabai Sa (2014)
Exon 31 Large Deletion never used c.2510-1_2554del p.His839_Leu853del Pathogenic Nabai Sa (2014)
Exon 43-45 Large Deletion never used c.3925-?_4198+?del p.? Pathogenic Nabai Sa (2014)
Exon 01-02 Large Deletion never used c.1-?_141+?del p.? Pathogenic Moriniere (2014)
Exon 20 Missense 1491C>A c.1289C>A p.Ala430Asp Benign Knebelmann (1996)
Exon 02-22 Large Deletion never used c.82-?_1516+?del p.? Pathogenic Moriniere (2014)
Exon 25 Missense 2057C>T c.1855C>T p.Pro619Ser Likely Benign Knebelmann (1996)
Exon 05 Insertion never used c.321+1_321+2dup p.? Pathogenic Moriniere (2014)
Exon 17 Missense never used c.947G>A p.Gly316Asp Pathogenic Moriniere (2014)
Exon 46 Missense 4484C>A c.4282C>A p.Leu1428Met Likely Benign Knebelmann (1996)
Exon 25 Missense never used c.1826G>A p.Gly609Asp Pathogenic Moriniere (2014)
Exon 25 Deletion never used c.1846_1854del p.Asn616_Gly618del Pathogenic Moriniere (2014)
Exon 25 Missense never used c.1894G>C p.Gly632Arg Pathogenic Moriniere (2014)
Exon 25 Missense never used c.1931G>A p.Gly644Asp Pathogenic Moriniere (2014)
Exon 29 Nonsense never used c.2264T>G p.Leu755X Pathogenic Moriniere (2014)
Exon 31 Deletion never used c.2589_2660del p.Ser864_Gly887del Pathogenic Moriniere (2014)
Exon 32 Indel never used c.2765_2766inv p.Lys922Ile Pathogenic Moriniere (2014)
Intron 33 Splice site never used c.2918-1G>A p.? Pathogenic Moriniere (2014)
Exon 34 Missense never used c.2918G>A p.Gly973Asp Pathogenic Moriniere (2014)
Exon 35 Missense never used c.3071G>A p.Gly1024Glu Pathogenic Moriniere (2014)
Exon 36 Nonsense never used c.3154C>T p.Gln1052X Pathogenic Moriniere (2014)
Exon 41 Missense never used c.3685G>T p.Gly1229Cys Pathogenic Moriniere (2014)
Exon 42 Deletion never used c.3899del p.Gly1300fs Pathogenic Moriniere (2014)
Exon 43-45 Large Deletion never used c.3925-?_4198+?del p.? Pathogenic Moriniere (2014)
Exon 44 Missense never used c.4054C>A p.Leu1352Ile Uncertain Moriniere (2014)
Exon 47 Missense never used c.4352G>A p.Gly1451Asp Pathogenic Moriniere (2014)
Exon 51 Missense never used c.5051G>A p.Cys1684Tyr Pathogenic Moriniere (2014)
Intron 18 Splice site never used c.1033-6A>G p.? Likely Pathogenic Kovacs (2016)
Intron 29 Splice site never used c.2395+1G>A p.? Pathogenic Kovacs (2016)
Exon 32 Missense never used c.2741G>A p.Gly914Asp Pathogenic Kovacs (2016)
Exon 02 Missense never used c.82G>T p.Ala28Ser Pathogenic Kovacs (2016)
Exon 18 Missense never used c.1010G>T p.Gly337Val Pathogenic Kovacs (2016)
Exon 01-02 Large Deletion never used c.1-?_3246+?del p.? Pathogenic Liu (2015)
Exon 25 Missense never used c.1922G>A p.Gly641Glu Pathogenic Baikara (2015)
Exon 22 Missense never used c.1499G>T p.Gly500Val Uncertain Fernadez-Rosado (2015)
Intron 09 Splice Site never used c.547-3C>A p.? Pathogenic Chen (2016)
Exon 15 Splice site never used c.876A>T p.Gly292Gly Pathogenic Fu (2015)
Intron 01 Splice site never used c.81+4A>C p.? Likely Pathogenic Weber (2016)
Exon 10 Duplication never used c.560_561dup p.Thr188fs Pathogenic Weber (2016)
Exon 12 Missense never used c.680G>A p.Gly227Asp Pathogenic Weber (2016)
Intron 15 Splice site never used c.891+9T>G p.? Likely Benign Weber (2016)
Intron 16 Splice site never used c.936+1G>A p.? Pathogenic Weber (2016)
Exon 17 Missense never used c.965G>T p.Gly322Val Pathogenic Weber (2016)
Exon 19 Insertion never used c.1073_1074insC p.Lys358fs Pathogenic Weber (2016)
Exon 19 Missense never used c.1165G>A p.Gly389Arg Pathogenic Weber (2016)
Exon 20 Deletion never used c.1246_1269del p.Ile416_Gly423del Pathogenic Weber (2016)
Exon 25 Missense never used c.1799G>A p.Gly600Asp Pathogenic Weber (2016)
Intron 25 Splice site never used c.1949-2A>T p.? Pathogenic Weber (2016)
Exon 27 Splice site never used c.2145A>G p.Lys715Lys Uncertain Weber (2016)
Intron 28 Splice site never used c.2245-14T>A p.? Uncertain Weber (2016)
Exon 29 Missense never used c.2297G>T p.Gly766Val Pathogenic Weber (2016)
Intron 33 Splice site never used c.2918-1G>C p.? Pathogenic Weber (2016)
Exon 34 Deletion never used c.2976_2982del p.Gln992fs Pathogenic Weber (2016)
Exon 36 Deletion never used c.3227del p.Pro1076fs Pathogenic Weber (2016)
Exon 39 Missense never used c.3545G>T p.Gly1182Val Pathogenic Weber (2016)
Exon 44 Missense never used c.4060G>T p.Gly1354Cys Pathogenic Weber (2016)
Intron 47 Splice Site never used c.4510+1G>T p.? Pathogenic Weber (2016)
Intron 48 Splice Site never used c.4688+1G>A p.? Pathogenic Weber (2016)
Exon 49 Missense never used c.4787G>T p.Gly1596Val Pathogenic Weber (2016)
Exon 49 Missense never used c.4793C>T p.Ser1598Phe Pathogenic Weber (2016)
Exon 50 Missense never used c.4895G>A p.Cys1632Tyr Pathogenic Weber (2016)
Exon 50 Missense never used c.4913G>C p.Cys1638Ser Pathogenic Weber (2016)
Exon 50 Missense never used c.4931C>G p.Ser1644Cys Pathogenic Weber (2016)
Exon 51 Missense never used c.5041T>G p.Cys1681Gly Pathogenic Weber (2016)
Exon 35-36 Large Duplication never used c.3017-?_3246+?del p.? Pathogenic Weber (2016)
Exon 42-45 Large Duplication never used c.3791-?_4198+?del p.? Pathogenic Weber (2016)
Exon 18 Missense never used c.1000G>A p.Gly334Ser Pathogenic Hashimura (2014)
Exon 29 Missense never used c.2288G>T p.Gly763Val Pathogenic Hashimura (2014)
Exon 47 Missense never used c.4457G>A p.Gly1486Asp Pathogenic Hashimura (2014)
Exon 25 Missense never used c.1781G>A p.Gly594Asp Pathogenic Hashimura (2014)
Exon 36 Missense never used c.3206G>A p.Gly1069Asp Pathogenic Hashimura (2014)
Exon 35 Missense never used c.3053G>A p.Gly1018Asp Pathogenic Hashimura (2014)
Exon 15 Nonsense never used c.871C>T p.Gln291X Pathogenic Hashimura (2014)
Exon 24 Insertion never used c.1652_1653 insTC p.Thr552fs Pathogenic Hashimura (2014)
Exon 49 Insertion never used c.4736_4737insT p.Gln1579fs Pathogenic Hashimura (2014)
Exon 50 Duplication never used c.4819dup p.Ala1607fs Pathogenic Hashimura (2014)
Exon 38 Insertion never used c.3450_3451insAC p.Val1151fs Pathogenic Hashimura (2014)
Exon 33 Insertion never used c.2903_2904insG p.Pro969fs Pathogenic Hashimura (2014)
Exon 6 Insertion never used c.331_332 insCA p.Gly111fs Pathogenic Hashimura (2014)
Exon 21 Insertion never used c.1411_1414 dup p.Gly472fs Pathogenic Hashimura (2014)
Exon 48 Deletion never used c.4565 del p.Asn1522fs Pathogenic Hashimura (2014)
Exon 49 Deletion never used c.4725 del p.Val1576fs Pathogenic Hashimura (2014)
Exon 31 Deletion never used c.2589 del p.Ser864fs Pathogenic Hashimura (2014)
Intron11 Splice Site never used c.610-2A>T p.? Pathogenic Hashimura (2014)
Intron 25 Splice Site never used c.1948+894C>G p.? Pathogenic Hashimura (2014)
Inton 50 Splice Site never used c.4976+2T>C p.? Pathogenic Hashimura (2014)
Intron 10 Splice Site never used c.609+875G>T p.? Pathogenic Hashimura (2014)
Exon 12 Missense never used c.679G>A p.Gly227Ser Pathogenic Hashimura (2014)
Exon 16 Missense never used c.893G>A p.Gly298Asp Pathogenic Hashimura (2014)
Exon 25 Missense never used c.1781G>A p.Gly594Asp Pathogenic Hashimura (2014)
Exon 16 Missense never used c.929G>A p.Gly310Glu Pathogenic Hashimura (2014)
Exon 38 Missense never used c.3410G>A? p.Gly1137Asp Pathogenic Hashimura (2014)
Exon 21 Deletion never used c.1347_1355del p.Ile450_Glu452del Pathogenic Hashimura (2014)
Exon 19 Deletion never used c.1078_1113 del p.Asn360_Gly371del Pathogenic Hashimura (2014)
Intron 41 Splice Site never used c.3791-2A>T p.? Pathogenic Hashimura (2014)
Exon 49 Nonsense never used c.4701T>A p.Cys1567X Pathogenic Hashimura (2014)
Intron 17 Splice Site never used c.991-1G>A p.? Pathogenic Hashimura (2014)
Intron 47 Splice Site never used c.4511-345A>G p.? Pathogenic Hashimura (2014)
Intron 24 Splice Site never used c.1780-1G>T p.? Pathogenic Kovacs (2016)
Exon 32 Missense never used c.2767G>C p.Gly923Arg Pathogenic Abe (2016)
Intron 24 Splice site never used c.1780-6T>G p.? Pathogenic Malone (2016)
Intron 13 Splice site never used c.780+5G>A p.? Pathogenic Fallerini (2017)
Intron 28 Splice site never used c.2245-40A>G p.? Pathogenic Chiereghin (2017)
Exon 33 Missense never used c.2822G>A p.Gly941Asp Pathogenic Chiereghin (2017)