GALT Database

  • Reference sequences were M96264.1 and cDNA M60091.1. 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...


340 variants found

Genomic Position Location Mutation Type Nucleotide Change Protein Change Classification References Comments
Entire Gene Large Deletion NULL NULL Pathogenic Papachristoforou et. al. 2013
5kb Gene Deletion 5kb del Pathogenic Berry (2001)
5'UTR Gene Deletion 5.5kb del? Pathogenic Coffee (2006)
5'UTR c.-119_-116del Mild Kozak (1999)
Exon 1 Missense c.2T>C p.M1T Pathogenic Crespo, C. et.al. 2015 Personal Communication
Exon 1 Missense c.1A>G p.M1V Pathogenic University of Bristol, unpublished  
Exon 1 Deletion c.18delC? p.D7IfsX43 Pathogenic Zaffanello (2005)  
Exon 1 Nonsense c.25C>T p.Q9X Pathogenic Gort (2009)
Exon 1 Missense c.27G>C p.Q9H Pathogenic Item (2002)  
Exon 1 Silent c.33C>T p.R11R Benign University of Bristol, unpublished  
Exon 1 Indel c.41delinsTT p.A14delinsV Pathogenic University of Bristol, unpublished  
Exon 1 Missense c.67A>G p.T23A Pathogenic Yang (2002)  
Exon 1 Missense c.82G>A p.D28N Pathogenic University of Bristol, unpublished  
Exon 1 Missense c.82G>C p.D28H Pathogenic Gort (2006)
Exon 1 Missense c.82G>T p.D28Y Pathogenic Greber-Platzer (1997)  
Exon 2 Missense c.90G>C p.Q30H Pathogenic O'Brien et al, unpublished
Exon 2 Missense c.91C>A p.H31N Pathogenic University of Bristol, unpublished  
Exon 2 Missense c.95T>A p.I32N Pathogenic Greber-Platzer (1997)  
Exon 2 Missense c.98G>A p.R33H Pathogenic Gort (2006)
Exon 2 Missense c.98G>C p.R33P Pathogenic Viggiano et al. 2015
Exon 2 Missense c.100T>A p.Y34N Pathogenic Calderon et al, unpublished
Exon 2 Missense c.100T>A p.Y34N Pathogenic Viggiano et al. 2015
Exon 2 Missense c.107C>T p.P36L Pathogenic University of Bristol, unpublished  
Exon 2 Missense c.113A>C p.Q38P Pathogenic Greber-Platzer (1997)  
Exon 2 Silent c.117T>C p.D39D Benign University of Bristol, unpublished  
Exon 2 Missense c.130G>A p.V44M Pathogenic Reichardt (1991)  
Exon 2 Missense c.130G>T p.V44L Pathogenic Elsas (1998)  
Exon 2 Missense c.131T>C p.V44A Pathogenic Calderon et al, unpublished
Exon 2 Nonsense c.134_138del p.A46fs Pathogenic Item (2002)
Exon 2 Missense c.134C>T p.S45L Pathogenic Zekanowski (1999)  
Exon 2 Missense c.152G>A p.R51Q Pathogenic Bosch (2005)  
Exon 2 Missense c.152G>T p.R51L Pathogenic Tyfield (1999)  
Exon 2 Nonsense c.160C>T p.Q54X Pathogenic University of Bristol, unpublished  
Exon 2 Missense c.163G>T p.G55C Pathogenic Tyfield (1999)  
Exon 2 Missense c.172G>A p.E58K Pathogenic Calderon et al, unpublished
Exon 2 Missense c.184C>A p.L62M Benign Reichardt (1991)  
Exon 2 Missense c.197C>A p.P66H Pathogenic Shin (2004)
Exon 2 Missense c.197C>T p.P66L Pathogenic University of Bristol, unpublished  
Exon 2 Missense c.199C>T p.R67C Pathogenic Sommer (1995)  
Exon 2 Deletion c.207_214del p.D69_72Pdel Pathogenic University of Bristol, unpublished  
Exon 2 Deletion c.220_221delCT p.L74fs (p.L74Pfs*18) Pathogenic University of Bristol, unpublished  
Exon 2 Deletion c.220_221delCT p.L74fs (p.L74Pfs*18) Pathogenic Viggiano et al. 2015
Exon 2 Insertion c.220_221insG p.L74fs Pathogenic Maceratesi (1996)  
Exon 2 Missense c.221T>C p.L74P Pathogenic Reichardt (1992)  
Exon 2 Nonsense c.238C>T p.R80X Pathogenic Tyfield (1999)  
Exon 2 Missense c.241G>A p.A81T Pathogenic Leslie (1992)  
Exon 2 Missense c.247G>A p.G83R Pathogenic University of Bristol, unpublished  
Exon 2 Missense c.248G>T p.G83V Pathogenic Viggiano et al. 2015
Intron 2 c.253-11C>T Suspected Benign Calderon et al, unpublished
Intron 2 Splice Site c.253-2A>G Pathogenic Yang (2002)
Intron 2 Splice Site c.253-2A>G Pathogenic
Exon 3 Missense c.265T>C p.Y89H Pathogenic Ramandeep Singh et al, unpublished
Exon 3 Missense c.265T>G p.Y89D Pathogenic University of Bristol, unpublished  
Exon 3 Missense c.285T>G p.F95L Pathogenic University of Bristol, unpublished  
Exon 3 Frameshift c.286_299delGACAACGACTTCCC p.D96Sfs*5 Pathogenic Choi et al 2014
Exon 3 Frameshift c.286_299delGACAACGACTTCCC p.D96Sfs*5 Pathogenic Choi et al 2015
Exon 3 Missense c.290A>G p.N97S Pathogenic Ashino (1995)
Exon 3 Missense c.292G>A p.D98N Pathogenic Tyfield (1999)
Exon 3 Missense c.292G>A p.D98N Pathogenic Calderon et al, unpublished
Exon 3 Missense c.292G>C p.D98H Pathogenic O'Brien et al, unpublished
Exon 3 Missense c.302C>A p.A101D Likely Pathogenic Choi et al 2014
Exon 3 Missense c.308A>G p.Q103R Pathogenic Ramandeep Singh et al, unpublished
Exon 3 Silent c.309G>A p.Q103Q Uncertain Ramandeep Singh et al, unpublished
Intron 3 Splice Site c.328+2T>C Pathogenic Gort (2009)
Intron 3 c.328+29G>C Benign University of Bristol, unpublished  
Intron 3 Splice Site c.329-2A>C Pathogenic Elsas (1995)  
Intron 3 Splice Site c.329-1G>A Pathogenic Calderon et al, unpublished
Exon 4 Silent c.330A>T p.G110G Benign University of Bristol, unpublished  
Exon 4 Insertion c.333_334insA p.S112fs Pathogenic Tyfield (1999)  
Exon 4 Missense c.336T>C p.S112R Pathogenic Velazquez-Aragon (2008)
Exon 4 Missense c.337G>A p.D113N Pathogenic Elsas (1998)  
Exon 4 Missense c.341A>T p.H114L Pathogenic Elsas (1998)  
Exon 4 Missense c.346C>A p.L116I Likely Pathogenic Ko et al. 2014
Exon 4 Missense c.350T>C p.F117S Pathogenic Elsas (1998)  
Exon 4 Missense c.354A>C p.Q118H Pathogenic Elsas (1998)  
Exon 4 Missense c.367C>G p.R123G Pathogenic Elsas (1998)  
Exon 4 Missense c.368G>A p.R123Q Pathogenic Elsas (1998)  
Exon 4 Missense c.374T>C p.V125A Pathogenic Elsas (1998)  
Intron 4 Splice Site c.377+1G>T Pathogenic Hirokawa (1999)  
Intron 4 Splice Site c.377+2T>A Mildly Pathogenic Calderon et al, unpublished
Intron 4 Splice Site c.377+2T>A Pathogenic Calderon et al. unpublished
Intron 4 c.377+53_ 1059
+87del
p.C126WfsX6 Pathogenic Gort (2006)
Intron 4 c.378-27G>C Benign
(Duarte 2)
Kozak (1999)
Intron 4 Splice Site c.378-1G>C Pathogenic Choi et al 2014
Exon 5 Missense c.379A>G? p.K127E? Pathogenic Tyfield (1999)
Exon 5 Missense c.386T>C p.M129T Pathogenic Tyfield (1999)  
Exon 5 Missense c.389G>A p.C130Y Pathogenic Elsas (1998)  
Exon 5 Missense c.392T>G p.F131C Pathogenic University of Bristol, unpublished  
Exon 5 Missense c.394C>T p.H132Y Pathogenic Elsas (1998)  
Exon 5 Missense c.396C>A p.H132Q Pathogenic Calderon et al, unpublished
Exon 5 Frameshift c.398_399dupCC p.W134PfsX5 Pathogenic Calderon et al. unpublished
Exon 5 Deletion c.400del p.W134fs Pathogenic Tyfield (1999)  
Exon 5 Deletion c.400delT p.W134Gfs*5 Pathogenic Viggiano et al. 2015
Exon 5 Missense c.404C>G p.S135W Pathogenic Bosch (2005)  
Exon 5 Missense c.404C>T p.S135L Pathogenic Reichardt (1992)
Exon 5 Missense c.404C>T p.S135L Pathogenic Calderon et al, unpublished
Exon 5 Missense c.404C>T p.S135L Pathogenic Calderon et al, unpublished
Exon 5 Missense c.404C>T p.S135L Pathogenic Calderon et al, unpublished
Exon 5 Missense c.404C>T p.S135L Pathogenic Calderon et al, unpublished
Exon 5 Missense c.404C>T p.S135L Pathogenic Calderon et al, unpublished
Exon 5 Missense c.404C>T p.S135L Pathogenic Calderon et al, unpublished
Exon 5 Missense c.404C>T p.S135L Pathogenic Calderon et al, unpublished
Exon 5 Insertion c.410dupT? p.T138NfsX8 Pathogenic Bosch (2005)  
Exon 5 Missense c.413C>T p.T138M Pathogenic Elsas (1995)  
Exon 5 Missense c.413C>T p.T138M Pathogenic Calderon et al, unpublished
Exon 5 Missense c.416T>C p.L139P Pathogenic Leslie (1992)  
Exon 5 Missense c.424A>G p.M142V Pathogenic Hirokawa (1999)  
Exon 5 Missense c.425T>A p.M142K Pathogenic Reichardt (1991)
Exon 5 Missense c.425T>A p.M142K Pathogenic Calderon et al, unpublished
Exon 5 Missense c.425T>C p.M142T Pathogenic Zaffanello (2005)  
Exon 5 Missense c.425T>C p.M142T Pathogenic Viggiano et al. 2015
Exon 5 Missense c.428C>T p.S143L Pathogenic Greber-Platzer (1997)  
Exon 5 Missense c.442C>G p.R148G Pathogenic Elsas (1998)  
Exon 5 Missense c.442C>T p.R148W Pathogenic Reichardt (1992)  
Exon 5 Missense c.443G>A p.R148Q Pathogenic Elsas (1995)  
Exon 5 Missense c.448G>C p.V150L Pathogenic Maceratesi (1996)  
Exon 5 Missense c.452T>C p.V151A Pathogenic Elsas (1995)
Exon 5 Missense c.460T>C p.W154R Pathogenic University of Bristol, unpublished  
Exon 5 Missense c.460T>G p.W154G Pathogenic Elsas (1995)  
Exon 5 Nonsense c.462G>A p.W154X Pathogenic University of Bristol, unpublished  
Exon 5 Nonsense c.462G>A p.W154X Pathogenic Viggiano et al. 2015
Exon 5 Missense c.482T>C p.L161P Pathogenic University of Bristol, unpublished  
Exon 5 Nonsense c.490C>T p.Q164X Pathogenic University of Bristol, unpublished  
Exon 5 Missense c.493T>C p.Y165H Uncertain Choi et al 2014
Exon 5 Silent c.495C>T p.Y165Y Benign University of Bristol, unpublished  
Exon 5 Missense c.496C>G p.P166A Pathogenic Ramandeep Singh et al, unpublished
Exon 5 Missense c.499T>C p.W167R Pathogenic Zekanowski (1999)  
Exon 5 Missense c.502G>T p.V168L Pathogenic Calderon et al, unpublished
Exon 5 Missense c.505C>A p.Q169K Pathogenic University of Bristol, unpublished  
Intron 5 Splice Site c.507+2T>C Pathogenic Zekanowski (1999)  
Intron 5 c.507+62G>A Benign
(Duarte 2)
Kozak (1999)
Intron 5 c.508-38T>C Benign University of Bristol, unpublished  
Intron 5 c.508-29del Uncertain Bosch (2005)
Intron 5 c.508-24G>A Benign
(Duarte 2)
Kozak (1999)
Intron 5 c.508-17G>A Benign Calderon et al, unpublished
Intron 5 c.508-11C>A Benign Maceratesi (1996)  
Intron 5 c.508-11C>G Benign Maceratesi (1996)  
Intron 5 Splice Site c.508-5G>C Pathogenic Maceratesi (1996)  
Exon 6 Missense c.509T>A p.I170N Pathogenic Gort (2009)
Exon 6 Missense c.509T>C p.I170T Pathogenic Calderon et al, unpublished
Exon 6 Silent c.510C>T p.I170I Benign Item (2002)  
Exon 6 Missense c.512T>C? p.F171S Pathogenic Reichardt (1992)
Exon 6 Missense c.524G>A p.G175D Pathogenic University of Bristol, unpublished  
Exon 6 Insertion c.528_529insG p.M177fsX5 Pathogenic Maceratesi (1996)  
Exon 6 Missense c.536G>A p.G179D Pathogenic Hirokawa (1999)  
Exon 6 Missense c.539G>T p.C180F Pathogenic Gort (2009)
Exon 6 Missense c.541T>G p.S181A Pathogenic Gort (2006)
Exon 6 Missense c.542C>T p.S181F Pathogenic Ramandeep Singh et al, unpublished
Exon 6 Missense c.547C>A p.P183T Pathogenic Maceratesi (1996)  
Exon 6 Missense c.550C>G p.H184D Pathogenic University of Bristol, unpublished  
Exon 6 Missense c.552C>A p.H184Q Pathogenic Tyfield (1999)  
Exon 6 Missense c.553C>T p.P185S Pathogenic Gort (2006)
Exon 6 Missense c.554C>A p.P185H Pathogenic Calderon (2007)
Exon 6 Missense c.554C>T p.P185L Pathogenic University of Bristol, unpublished  
Exon 6 Missense c.556C>T p.H186Y Pathogenic University of Bristol, unpublished  
Exon 6 Missense c.563A>G p.Q188R Pathogenic Reichardt (1992)
Exon 6 Missense c.563A>G p.Q188R Pathogenic Calderon et al., unplublished
Exon 6 Missense c.563A>G p.Q188R Pathogenic Calderon et al, unpublished
Exon 6 Missense c.563A>G p.Q188R Pathogenic Calderon et al, unpublished
Exon 6 Missense c.563A>G p.Q188R Pathogenic Calderon et al, unpublished
Exon 6 Missense c.563A>G p.Q188R Pathogenic Calderon et al, unpublished
Exon 6 Missense c.563A>C p.Q188P Pathogenic Tran et al 2015
Intron 6 Splice Site c.564+1G>A Pathogenic University of Bristol, unpublished  
Intron 6 c.564+15G>A Benign University of Bristol, unpublished  
Intron 6 c.564+32T>A Benign University of Bristol, unpublished  
Intron 6 Splice Site c.565-2A>G Pathogenic University of Bristol, unpublished  
Exon 7 Missense c.601C>A p.R201S Likely Pathogenic Crespo, C. et.al. Personal Communication
Exon 7 Missense c.666C>A p.S222R Likely Pathogenic Crespo, C. et.al. 2015 Personal Communication
Exon 7 Missense c.574A>G p.S192G Pathogenic Gort (2006)
Exon 7 Missense c.575G>A p.S192N Pathogenic Elsas (1995)  
Exon 7 Missense c.580T>C p.F194L Pathogenic Tyfield (1999)  
Exon 7 Silent c.583C>T p.L195L Benign University of Bristol, unpublished  
Exon 7 Missense c.584T>C p.L195P Pathogenic Reichardt (1992)
Exon 7 Missense c.594T>G p.I198M Pathogenic Tyfield (1999)  
Exon 7 Missense c.595G>A p.A199T Pathogenic Tyfield (1999)  
Exon 7 Deletion c.598del p.Q200fs Pathogenic Elsas (1998)  
Exon 7 Missense c.601C>T p.R201C Pathogenic Calderon (2007)
Exon 7 Missense c.602G>A p.R201H Pathogenic Elsas (1995)
Exon 7 Missense c.602G>A p.R201H Pathogenic Choi et al 2014
Exon 7 Missense c.604G>A p.E202K Pathogenic Calderon et al., unplublished
Exon 7 Missense c.607G>A p.E203K Pathogenic Elsas (1995)
Exon 7 Nonsense c.610C>T p.R204X Pathogenic Tyfield (1999)
Exon 7 Missense c.611G>C p.R204P Pathogenic Tyfield (1999)  
Exon 7 Nonsense c.619C>T p.Q207X Pathogenic Yang (2002)  
Exon 7 Missense c.626A>C p.Y209S Pathogenic Elsas (1998)  
Exon 7 Missense c.626A>G p.Y209C Pathogenic Elsas (1998)
Exon 7 Silent c.630G>A p.K210K Uncertain Ramandeep Singh et al, unpublished
Exon 7 Nonsense c.634C>T p.Q212X Pathogenic Gathof (1995)
Exon 7 Missense c.635A>C p.Q212P Pathogenic O'Brien et al, unpublished
Exon 7 Missense c.650T>C p.L217P Pathogenic Tyfield (1999)  
Exon 7 Missense c.652C>G p.L218V Pathogenic O'Brien et al, unpublished
Exon 7 Silent c.652C>T p.L218L Benign
(Duarte 1)
Gathof (1995)
Exon 7 Deletion c.652del p.L218X Pathogenic Calderon (2007)
Exon 7 Insertion c.658dupG p.E220fsX17 Pathogenic Gort (2006)
Exon 7 Missense c.658G>A p.E220K Pathogenic Calderon (2007)
Exon 7 Missense c.667C>A p.R223S Pathogenic Calderon (2007)
Exon 7 Missense c.676C>G p.L226V Pathogenic University of Bristol, unpublished  
Exon 7 Missense c.677T>C p.L226P Pathogenic Elsas (1998)  
Exon 7 Missense c.680T>C p.L227P Pathogenic Calderon el al, unpublished
Exon 7 Missense c.687G>T p.K229N Pathogenic Bosch (2005)  
Intron 7 Splice Site c.687+2T>C Pathogenic Tyfield (1999)  
Exon 8 Missense c.688G>A p.E230K Uncertain Crespo, C. et.al. Personal Communication
Exon 8 Missense c.691C>T p.R231C Pathogenic University of Bristol, unpublished  
Exon 8 Missense c.692G>A p.R231H Pathogenic Ashino (1995)
Exon 8 Missense c.692G>A p.R231H Pathogenic Calderon et al, unpublished
Exon 8 Missense c.697G>C p.V233L Pathogenic Gort (2009)
Exon 8 Silent c.699C>A p.V233V Benign Maceratesi (1996)  
Exon 8 Deletion c.719_728del10 p.L240SfsX25 Pathogenic Calderon et al, unpublished
Exon 8 Missense c.730C>T p.P244S Pathogenic Viggiano et al. 2015
Exon 8 Missense c.745T>C p.W249R Pathogenic Tyfield (1999)  
Exon 8 Nonsense c.747G>A p.W249X Pathogenic Hirokawa (1999)
Exon 8 Missense c.748C>A p.P250T Pathogenic University of Bristol, unpublished  
Exon 8 Indel c.752_753delinsCT p.Y251S Pathogenic Calderon et al, unpublished
Exon 8 Missense c.752A>C? p.Y251S? Pathogenic Tyfield (1999)
Exon 8 Missense c.752A>G p.Y251C Pathogenic Tyfield (1999)  
Exon 8 Silent c.753C>T p.Y251Y Benign Calderon et al, unpublished
Exon 8 Missense c.756G>T p.Q252H Pathogenic University of Bristol, unpublished  
Exon 8 Silent c.759A>N p.T253T Benign Item (2002)  
Exon 8 Insertion c.761insT? p.L255AfsX12 Pathogenic University of Bristol, unpublished  
Exon 8 Deletion c.768_770del p.P257del Pathogenic Tyfield (1999)
Exon 8 Missense c.769C>A p.P257T Pathogenic Choi et al 2014
Exon 8 Missense c.770C>T p.P257L Pathogenic Gort (2009)
Exon 8 Missense c.772C>T p.R258C Pathogenic Elsas (1998)
Exon 8 Missense c.775C>T p.R259W Pathogenic Tyfield (1999)
Exon 8 Missense c.775C>T p.R259W Pathogenic Calderon et al, unpublished
Exon 8 Missense c.776G>A p.R259Q Pathogenic Calderon et al, unpublished
Exon 8 Deletion c.778_789del p.H260_R263del Pathogenic Elsas (1998)  
Exon 8 Missense c.785G>C p.R262P Pathogenic Elsas (1998)  
Exon 8 Indel c.[790_792delC; 792_793insG] p.L264X Pathogenic Elsas (1998)
Exon 8 Missense c.793C>G p.P265A Pathogenic Gort (2006)
Exon 8 Missense c.799C>G p.L267V Pathogenic Viggiano et al. 2015
Exon 8 Missense c.800T>G p.L267R Pathogenic Viggiano et al. 2015
Exon 8 Missense c.803C>A p.T268N Benign Chhay et al, 2008
Exon 8 Missense c.812A>G p.E271G Pathogenic University of Bristol, unpublished  
Exon 8 Missense c.812G>C p.E271D Pathogenic Viggiano et al. 2015
Exon 8 Missense c.814C>G p.R272G Pathogenic Tyfield (1999)  
Exon 8 Missense c.815G>A p.R272H Pathogenic O'Brien et al, unpublished
Intron 8 Splice Site c.820+13A>G p.D274Gfs*17 Pathogenic Rivera et al. (2014 submitted)
Intron 8 c.820+23T>G Benign Maceratesi (1996)  
Intron 8 c.820+58G>T Benign Kozak (1999)  
Intron 8 c.821-23dupT Uncertain Calderon et al, unpublished
Intron 8 Splice Site c.821-7A>G Exon 9 skip? Uncertain Choi et al 2014
Intron 8 Splice Site c.821-2A>G Exon 9 skip Pathogenic Bosch (2005)  
Exon 9 Deletion c.824del p.L275fs Pathogenic Elsas (1998)  
Exon 9 Indel c.826_827delinsAA p.A276N Likely Pathogenic
Exon 9 Missense c.833T>A p.I278N Pathogenic Calderon (2007)
Exon 9 Missense c.836T>G p.M279R Pathogenic University of Bristol, unpublished  
Exon 9 Missense c.844C>G p.L282V Pathogenic Tyfield (1999)  
Exon 9 Missense c.854A>G p.K285R Pathogenic Ramandeep Singh et al, unpublished
Exon 9 Missense c.855G>T p.K285N Pathogenic Leslie (1992)
Exon 9 Missense c.855G>T p.K285N Pathogenic Calderon et al, unpublished
Exon 9 Missense c.855G>T p.K285N Pathogenic Viggiano et al. 2015
Exon 9 Missense c.855G>T p.K285N Pathogenic Viggiano et al. 2015
Exon 9 Missense c.858T>C p.Y286H Pathogenic Zaffanello (2005)  
Exon 9 Missense c.865C>T p.L289F Pathogenic Calderon (2007)
Exon 9 Missense c.866T>G p.L289R Pathogenic Tyfield (1999)  
Exon 9 Missense c.871G>A p.E291K Pathogenic Tyfield (1999)  
Exon 9 Missense c.872A>T p.E291V Pathogenic Calderon et al, unpublished
Exon 9 Silent c.876G>A p.T292T Benign Calderon et al, unpublished
Exon 9 Silent c.876G>A p.T292T Benign Calderon et al, unpublished
Exon 9 Silent c.876G>A p.T292T Benign Calderon et al, unpublished
Exon 9 Silent c.876G>A p.T292T Benign Calderon et al, unpublished
Exon 9 Silent c.876G>A p.T292T Benign Calderon et al, unpublished
Exon 9 Silent c.879C>T p.S293S Benign Calderon et al. unpublished
Exon 9 Missense c.881T>A p.F294Y Pathogenic Tyfield (1999)  
Exon 9 Deletion c.882del p.F294fs Pathogenic Tyfield (1999)  
Exon 9 Missense c.883C>A p.P295T Pathogenic University of Bristol, unpublished
Intron 9 Splice Site c.904+1G>T p.? Pathogenic Calderon el al, unpublished
Intron 9 Splice Site c.904+5G>A p.? Pathogenic Calderon et al, unpublished
Exon 10 Nonsense c.920C>A p.S307X Pathogenic Singh et al. (2011)
Exon 10 Missense c.922G>A p.E308K Pathogenic Elsas (1998)  
Exon 10 Missense c.940A>G p.N314D Benign
(Duarte1)
Mild (Duarte 2)
Reichardt (1991)
Exon 10 Silent c.945T>C p.H315H Benign Lai (1996)
Exon 10 Silent c.945T>C p.H315H Benign Calderon et al, unpublished
Exon 10 Silent c.945T>C p.H315H Benign Calderon et al, unpublished
Exon 10 Silent c.945T>C p.H315H Benign Calderon et al, unpublished
Exon 10 Silent c.945T>C p.H315H Benign Calderon et al, unpublished
Exon 10 Nonsense c.947G>A? p.W316X? Pathogenic Sommer (1995)
Exon 10 Missense c.948G>A p.W316X Pathogenic Calderon et al, unpublished  
Exon 10 Deletion c.949del p.Q317fs Pathogenic Tyfield (1999)  
Exon 10 Missense c.950A>G p.Q317R Pathogenic Tyfield (1999)  
Exon 10 Missense c.951G>T p.Q317H Pathogenic Tyfield (1999)  
Exon 10 Deletion c.952del p.L318fs Pathogenic Elsas (1998)  
Exon 10 Silent c.954G>A p.L318L Benign Maceratesi (1996)  
Exon 10 Missense c.957C>A p.H319Q Pathogenic Reichardt (1993)  
Exon 10 Silent c.957C>T p.H319H Uncertain Ramandeep Singh et al, unpublished
Exon 10 Missense c.958G>A p.A320T Pathogenic Elsas (1995)  
Exon 10 Missense c.959C>T p.A320V Suspected Pathogenic Calderon et al. unpublished
Exon 10 Missense c.961C>T p.H321Y Pathogenic Webb (2003)
Exon 10 Missense c.961C>T p.H321Y Pathogenic Calderon et al. unpublished
Exon 10 Missense c.967T>C p.Y323H Pathogenic Tyfield (1999)  
Exon 10 Missense c.967T>G p.Y323D Pathogenic Elsas (1995)  
Exon 10 Missense c.968A>G p.Y323C Pathogenic Dobrowski (2005)
Exon 10 Missense c.970C>T p.P324S Pathogenic Boleda (1995)  
Exon 10 Silent c.972T>C p.P324P Benign Maceratesi (1996)  
Exon 10 Missense c.974C>T? p.P325L? Pathogenic Greber-Platzer (1997)
Exon 10 Deletion c.976del p.L326fs Pathogenic University of Bristol, unpublished  
Exon 10 Deletion c.979del p.L327fs Pathogenic Elsas (1998)  
Exon 10 Missense c.980T>C p.L327P Pathogenic Calderon et al, unpublished
Exon 10 Missense c.983G>A p.R328H Pathogenic Elsas (1998)  
Exon 10 Missense c.986C>T p.S329F Pathogenic Tyfield (1999)  
Exon 10 Missense c.989C>T p.A330V Pathogenic Sommer (1995)  
Exon 10 Missense c.997C>G p.R333G Pathogenic Leslie (1992)
Exon 10 Missense c.997C>T p.R333W Pathogenic Reichardt (1991)
Exon 10 Missense c.997C>T p.R333W Pathogenic Calderon et al, unpublished
Exon 10 Missense c.997C>T p.R333W Pathogenic Calderon et al, unpublished
Exon 10 Missense c.997C>T p.R333W Pathogenic Viggiano et al. 2015
Exon 10 Missense c.998G>A p.R333Q Pathogenic Hirokawa (1999)  
Exon 10 Missense c.998G>A p.R333Q Pathogenic Choi et al 2014
Exon 10 Missense c.998G>A p.R333Q Pathogenic Choi et al 2014
Exon 10 Missense c.998G>T p.R333L Pathogenic Singh et al, unpublished
Exon 10 Missense c.1001A>G p.K334R Pathogenic Leslie (1992)  
Exon 10 Missense c.1006A>T p.M336L Pathogenic Elsas (1998)
Exon 10 Silent c.1014C>G p.G338G Uncertain Tyfield (1999)
Exon 10 Silent c.1014C>G p.G338G Uncertain Calderon et al, unpublished
Exon 10 Missense c.1018G>A p.E340K Pathogenic University of Bristol, unpublished  
Exon 10 Nonsense c.1018G>T p.E340X Pathogenic Gathof (1995)  
Exon 10 Missense c.1024C>A p.L342I Pathogenic Item (2002)  
Exon 10 Missense c.1030C>A p.Q344K Pathogenic Elsas (1998)
Exon 10 Missense c.1034C>A p.A345D Pathogenic University of Bristol, unpublished
Exon 10 Deletion c.1047del p.L349fs Pathogenic University of Bristol, unpublished  
Exon 10 Missense c.1048A>G p.T350A Pathogenic Shin (1996)  
Exon 10 Deletion c.1051del p.P351fs Pathogenic University of Bristol, unpublished  
Exon 10 Nonsense c.1057C>T p.Q353X Pathogenic University of Bristol, unpublished  
Intron 1 Splice Site c.82+3A>G Pathogenic De Lucca, M et.al. 2017
Intron 10 c.1059+24G>A Uncertain Calderon et al, unpublished
Intron 10 c.1059+36T>A Benign Tyfield (1999)  
Intron 10 Splice Site c.1059+56C>T p.Q353_A354ins
VRTQNSLASPDSHMQYVQ
Pathogenic Wadelius (1993)
Intron 10 Splice Site c.1060-1G>A Pathogenic Calderon et al, unpublished
Exon 11 Nonsense c.1072delC? p.L358X Pathogenic Webb (2003)
Exon 11 Indel c.1078_1083
delins20
Pathogenic Calderon et al, unpublished
Exon 11 Missense c.1087G>A p.E363K Uncertain Calderon et al. unpublished
Exon 11 Missense c.1087G>A p.E363K Likely Pathogenic Choi et al 2014
Exon 11 Nonsense c.1098C>A p.Y366X Pathogenic Greber-Platzer (1997)  
Exon 11 Missense c.1103T>C p.L368P Mildly Pathogenic Calderon et al, unpublished
Exon 11 Nonsense c.1108C>T p.Q370X Pathogenic University of Bristol, unpublished  
Exon 11 Missense c.1132A>G p.I378V Pathogenic University of Bristol, unpublished  
Exon 11 no-stop change? c.1138T>C p.X380RextX50 Pathogenic Tyfield (1999)
Exon 11 no-stop change? c.1140A>C p.X380Cext50 Pathogenic Bosch (2005)  
3'UTR c.1140+203C>T Benign Calderon et al, unpublished