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).
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  • "Live Search" any term in the search box, such as "exon" , "missense", "benign" , etc...


266 variants found

Genomic Position Location Mutation Type Nucleotide Change Protein Change Classification References Comments
0 Entire Gene Large Deletion Pathogenic Papachristoforou et. al. 2013
34646635 5kb Gene Deletion 5kb del Pathogenic Berry (2001)
34646636 5'UTR Gene Deletion 5.5kb del? Pathogenic Coffee (2006)
34646833 5'UTR c.-119_-116del Benign
(Duarte 2)
Kozak (1999)
34646960 Exon 1 Missense c.1A>G p.M1V Pathogenic University of Bristol, unpublished  
34646976 Exon 1 Deletion c.18delC? p.D7IfsX43 Pathogenic Zaffanello (2005)  
34646984 Exon 1 Nonsense c.25C>T p.Q9X Pathogenic Gort (2009)
34646986 Exon 1 Missense c.27G>C p.Q9H Pathogenic Item (2002)  
34646992 Exon 1 Silent c.33C>T p.R11R Benign University of Bristol, unpublished  
34647000 Exon 1 Indel c.41delinsTT p.A14delinsV Pathogenic University of Bristol, unpublished  
34647026 Exon 1 Missense c.67A>G p.T23A Pathogenic Yang (2002)  
34647041 Exon 1 Missense c.82G>A p.D28N Pathogenic University of Bristol, unpublished  
34647041 Exon 1 Missense c.82G>T p.D28Y Pathogenic Greber-Platzer (1997)  
34647041 Exon 1 Missense c.82G>C p.D28H Pathogenic Gort (2006)
34647357 Exon 2 Missense c.90G>C p.Q30H Pathogenic O'Brien et al, unpublished
34647358 Exon 2 Missense c.91C>A p.H31N Pathogenic University of Bristol, unpublished  
34647362 Exon 2 Missense c.95T>A p.I32N Pathogenic Greber-Platzer (1997)  
34647365 Exon 2 Missense c.98G>A p.R33H Pathogenic Gort (2006)
34647367 Exon 2 Missense c.100T>A p.Y34N Pathogenic Calderon et al, unpublished
34647374 Exon 2 Missense c.107C>T p.P36L Pathogenic University of Bristol, unpublished  
34647380 Exon 2 Missense c.113A>C p.Q38P Pathogenic Greber-Platzer (1997)  
34647384 Exon 2 Silent c.117T>C p.D39D Benign University of Bristol, unpublished  
34647397 Exon 2 Missense c.130G>T p.V44L Pathogenic Elsas (1998)  
34647397 Exon 2 Missense c.130G>A p.V44M Pathogenic Reichardt (1991)  
34647401 Exon 2 Nonsense c.134_138del p.A46fs Pathogenic Item (2002)
34647401 Exon 2 Missense c.134C>T p.S45L Pathogenic Zekanowski (1999)  
34647419 Exon 2 Missense c.152G>T p.R51L Pathogenic Tyfield (1999)  
34647419 Exon 2 Missense c.152G>A p.R51Q Pathogenic Bosch (2005)  
34647427 Exon 2 Nonsense c.160C>T p.Q54X Pathogenic University of Bristol, unpublished  
34647430 Exon 2 Missense c.163G>T p.G55C Pathogenic Tyfield (1999)  
34647451 Exon 2 Missense c.184C>A p.L62M Benign Reichardt (1991)  
34647464 Exon 2 Missense c.197C>A p.P66H Pathogenic Shin (2004)
34647464 Exon 2 Missense c.197C>T p.P66L Pathogenic University of Bristol, unpublished  
34647466 Exon 2 Missense c.199C>T p.R67C Pathogenic Sommer (1995)  
34647474 Exon 2 Deletion c.207_214del p.D69_72Pdel Pathogenic University of Bristol, unpublished  
34647487 Exon 2 Insertion c.220_221insG p.L74fs Pathogenic Maceratesi (1996)  
34647487 Exon 2 Deletion c.220_221del p.L74fs Pathogenic University of Bristol, unpublished  
34647488 Exon 2 Missense c.221T>C p.L74P Pathogenic Reichardt (1992)  
34647505 Exon 2 Nonsense c.238C>T p.R80X Pathogenic Tyfield (1999)  
34647508 Exon 2 Missense c.241G>A p.A81T Pathogenic Leslie (1992)  
34647514 Exon 2 Missense c.247G>A p.G83R Pathogenic University of Bristol, unpublished  
34647750 Intron 2 Splice Site c.253-2A>G Pathogenic Yang (2002)
34647764 Exon 3 Missense c.265T>G p.Y89D Pathogenic University of Bristol, unpublished  
34647764 Exon 3 Missense c.265T>C p.Y89H Pathogenic Ramandeep Singh et al, unpublished
34647784 Exon 3 Missense c.285T>G p.F95L Pathogenic University of Bristol, unpublished  
34647789 Exon 3 Missense c.290A>G p.N97S Pathogenic Ashino (1995)
34647791 Exon 3 Missense c.292G>A p.D98N Pathogenic Tyfield (1999)
34647791 Exon 3 Missense c.292G>C p.D98H Pathogenic O'Brien et al, unpublished
34647829 Intron 3 Splice Site c.328+2T>C Pathogenic Gort (2009)
34647856 Intron 3 c.328+29G>C Benign University of Bristol, unpublished  
34647902 Exon 3 Missense c.308A>G p.Q103R Pathogenic Ramandeep Singh et al, unpublished
34647903 Exon 3 Silent c.309G>A p.Q103Q Uncertain Ramandeep Singh et al, unpublished
34647921 Intron 3 Splice Site c.329-2A>C Pathogenic Elsas (1995)  
34647924 Exon 4 Silent c.330A>T p.G110G Benign University of Bristol, unpublished  
34647927 Exon 4 Insertion c.333_334insA p.S112fs Pathogenic Tyfield (1999)  
34647930 Exon 4 Missense c.336T>C p.S112R Pathogenic Velazquez-Aragon (2008)
34647931 Exon 4 Missense c.337G>A p.D113N Pathogenic Elsas (1998)  
34647935 Exon 4 Missense c.341A>T p.H114L Pathogenic Elsas (1998)  
34647944 Exon 4 Missense c.350T>C p.F117S Pathogenic Elsas (1998)  
34647948 Exon 4 Missense c.354A>C p.Q118H Pathogenic Elsas (1998)  
34647961 Exon 4 Missense c.367C>G p.R123G Pathogenic Elsas (1998)  
34647962 Exon 4 Missense c.368G>A p.R123Q Pathogenic Elsas (1998)  
34647968 Exon 4 Missense c.374T>C p.V125A Pathogenic Elsas (1998)  
34647972 Intron 4 Splice Site c.377+1G>T Pathogenic Hirokawa (1999)  
34647973 Intron 4 Splice Site c.377+2T>A Pathogenic Calderon et al. Unpublished
34648024 Intron 4 Missense c.377+53_ 1059
+87del
p.C126WfsX6 Pathogenic Gort (2006)
34648070 Intron 4 c.378-27G>C Benign
(Duarte 2)
Kozak (1999)
34648098 Exon 5 Missense c.379A>G? p.K127E? Pathogenic Tyfield (1999)
34648105 Exon 5 Missense c.386T>C p.M129T Pathogenic Tyfield (1999)  
34648108 Exon 5 Missense c.389G>A p.C130Y Pathogenic Elsas (1998)  
34648111 Exon 5 Missense c.392T>G p.F131C Pathogenic University of Bristol, unpublished  
34648113 Exon 5 Missense c.394C>T p.H132Y Pathogenic Elsas (1998)  
34648115 Exon 5 Missense c.396C>A p.H132Q Pathogenic Calderon et al, unpublished
34648117 Exon 5 Frameshift c.398_399dupCC p.W134PfsX5 Pathogenic Calderon et al. unpublished
34648119 Exon 5 Deletion c.400del p.W134fs Pathogenic Tyfield (1999)  
34648123 Exon 5 Missense c.404C>T p.S135L Pathogenic Reichardt (1992)
34648123 Exon 5 Missense c.404C>G p.S135W Pathogenic Bosch (2005)  
34648129 Exon 5 Insertion c.410dupT? p.T138NfsX8 Pathogenic Bosch (2005)  
34648132 Exon 5 Missense c.413C>T p.T138M Pathogenic Elsas (1995)  
34648135 Exon 5 Missense c.416T>C p.L139P Pathogenic Leslie (1992)  
34648143 Exon 5 Missense c.424A>G p.M142V Pathogenic Hirokawa (1999)  
34648144 Exon 5 Missense c.425T>A p.M142K Pathogenic Reichardt (1991)  
34648144 Exon 5 Missense c.425T>C p.M142T Pathogenic Zaffanello (2005)  
34648147 Exon 5 Missense c.428C>T p.S143L Pathogenic Greber-Platzer (1997)  
34648161 Exon 5 Missense c.442C>G p.R148G Pathogenic Elsas (1998)  
34648161 Exon 5 Missense c.442C>T p.R148W Pathogenic Reichardt (1992)  
34648162 Exon 5 Missense c.443G>A p.R148Q Pathogenic Elsas (1995)  
34648167 Exon 5 Missense c.448G>C p.V150L Pathogenic Maceratesi (1996)  
34648171 Exon 5 Missense c.452T>C p.V151A Pathogenic Elsas (1995)
34648179 Exon 5 Missense c.460T>G p.W154G Pathogenic Elsas (1995)  
34648179 Exon 5 Missense c.460T>C p.W154R Pathogenic University of Bristol, unpublished  
34648181 Exon 5 Nonsense c.462G>A p.W154X Pathogenic University of Bristol, unpublished  
34648201 Exon 5 Missense c.482T>C p.L161P Pathogenic University of Bristol, unpublished  
34648209 Exon 5 Nonsense c.490C>T p.Q164X Pathogenic University of Bristol, unpublished  
34648214 Exon 5 Silent c.495C>T p.Y165Y Benign University of Bristol, unpublished  
34648215 Exon 5 Missense c.496C>G p.P166A Pathogenic Ramandeep Singh et al, unpublished
34648218 Exon 5 Missense c.499T>C p.W167R Pathogenic Zekanowski (1999)  
34648221 Exon 5 Missense c.502G>T p.V168L Pathogenic Calderon et al, unpublished
34648224 Exon 5 Missense c.505C>A p.Q169K Pathogenic University of Bristol, unpublished  
34648228 Intron 5 Splice Site c.507+2T>C Pathogenic Zekanowski (1999)  
34648288 Intron 5 c.507+62G>A Benign
(Duarte 2)
Kozak (1999)
34648342 Intron 5 c.508-38T>C Benign University of Bristol, unpublished  
34648351 Intron 5 c.508-29del Uncertain Bosch (2005)
34648356 Intron 5 c.508-24G>A Benign
(Duarte 2)
Kozak (1999)
34648369 Intron 5 c.508-11C>A Benign Maceratesi (1996)  
34648369 Intron 5 c.508-11C>G Benign Maceratesi (1996)  
34648375 Intron 5 Splice Site c.508-5G>C Pathogenic Maceratesi (1996)  
34648381 Exon 6 Missense c.509T>C p.I170T Pathogenic Calderon et al, unpublished
34648381 Exon 6 Missense c.509T>A p.I170N Pathogenic Gort (2009)
34648382 Exon 6 Silent c.510C>T p.I170I Benign Item (2002)  
34648384 Exon 6 Missense c.512T>C? p.F171S? Pathogenic Reichardt (1992)
34648396 Exon 6 Missense c.524G>A p.G175D Pathogenic University of Bristol, unpublished  
34648400 Exon 6 Insertion c.528_529insG p.M177fsX5 Pathogenic Maceratesi (1996)  
34648408 Exon 6 Missense c.536G>A p.G179D Pathogenic Hirokawa (1999)  
34648411 Exon 6 Missense c.539G>T p.C180F Pathogenic Gort (2009)
34648413 Exon 6 Missense c.541T>G p.S181A Pathogenic Gort (2006)
34648414 Exon 6 Missense c.542C>T p.S181F Pathogenic Ramandeep Singh et al, unpublished
34648419 Exon 6 Missense c.547C>A p.P183T Pathogenic Maceratesi (1996)  
34648422 Exon 6 Missense c.550C>G p.H184D Pathogenic University of Bristol, unpublished  
34648424 Exon 6 Missense c.552C>A p.H184Q Pathogenic Tyfield (1999)  
34648425 Exon 6 Missense c.553C>T p.P185S Pathogenic Gort (2006)
34648426 Exon 6 Missense c.554C>A p.P185H Pathogenic Calderon (2007)
34648426 Exon 6 Missense c.554C>T p.P185L Pathogenic University of Bristol, unpublished  
34648428 Exon 6 Missense c.556C>T p.H186Y Pathogenic University of Bristol, unpublished  
34648435 Exon 6 Missense c.563A>G p.Q188R Pathogenic Reichardt (1992)
34648437 Intron 6 Splice Site c.564+1G>A Pathogenic University of Bristol, unpublished  
34648451 Intron 6 c.564+15G>A Benign University of Bristol, unpublished  
34648468 Intron 6 c.564+32T>A Benign University of Bristol, unpublished  
34648597 Intron 6 Splice Site c.565-2A>G Pathogenic University of Bristol, unpublished  
34648608 Exon 7 Missense c.574A>G p.S192G Pathogenic Gort (2006)
34648609 Exon 7 Missense c.575G>A p.S192N Pathogenic Elsas (1995)  
34648614 Exon 7 Missense c.580T>C p.F194L Pathogenic Tyfield (1999)  
34648617 Exon 7 Silent c.583C>T p.L195L Benign University of Bristol, unpublished  
34648618 Exon 7 Missense c.584T>C p.L195P Pathogenic Reichardt (1992)
34648628 Exon 7 Missense c.594T>G p.I198M Pathogenic Tyfield (1999)  
34648629 Exon 7 Missense c.595G>A p.A199T Pathogenic Tyfield (1999)  
34648632 Exon 7 Deletion c.598del p.Q200fs Pathogenic Elsas (1998)  
34648635 Exon 7 Missense c.601C>T p.R201C Pathogenic Calderon (2007)
34648636 Exon 7 Missense c.602G>A p.R201H Pathogenic Elsas (1995)
34648641 Exon 7 Missense c.607G>A p.E203K Pathogenic Elsas (1995)
34648644 Exon 7 Nonsense c.610C>T p.R204X Pathogenic Tyfield (1999)
34648645 Exon 7 Missense c.611G>C p.R204P Pathogenic Tyfield (1999)  
34648653 Exon 7 Nonsense c.619C>T p.Q207X Pathogenic Yang (2002)  
34648660 Exon 7 Missense c.626A>G p.Y209C Pathogenic Elsas (1998)  
34648660 Exon 7 Missense c.626A>C p.Y209S Pathogenic Elsas (1998)  
34648664 Exon 7 Silent c.630G>A p.K210K Uncertain Ramandeep Singh et al, unpublished
34648668 Exon 7 Nonsense c.634C>T p.Q212X Pathogenic Gathof (1995)  
34648669 Exon 7 Missense c.635A>C p.Q212P Pathogenic O'Brien et al, unpublished
34648684 Exon 7 Missense c.650T>C p.L217P Pathogenic Tyfield (1999)  
34648686 Exon 7 Deletion c.652del p.L218X Pathogenic Calderon (2007)
34648686 Exon 7 Silent c.652C>T p.L218L Benign
(Duarte 1)
Gathof (1995)
34648686 Exon 7 Missense c.652C>G p.L218V Pathogenic O'Brien et al, unpublished
34648692 Exon 7 Missense c.658G>A p.E220K Pathogenic Calderon (2007)
34648692 Exon 7 Insertion c.658dupG p.E220fsX17 Pathogenic Gort (2006)
34648701 Exon 7 Missense c.667C>A p.R223S Pathogenic Calderon (2007)
34648710 Exon 7 Missense c.676C>G p.L226V Pathogenic University of Bristol, unpublished  
34648711 Exon 7 Missense c.677T>C p.L226P Pathogenic Elsas (1998)  
34648714 Exon 7 Missense c.680T>C p.L227P Pathogenic Calderon el al, unpublished
34648721 Exon 7 Missense c.687G>T p.K229N Pathogenic Bosch (2005)  
34648723 Intron 7 Splice Site c.687+2T>C Pathogenic Tyfield (1999)  
34649030 Exon 8 Missense c.691C>T p.R231C Pathogenic University of Bristol, unpublished  
34649031 Exon 8 Missense c.692G>A p.R231H Pathogenic Ashino (1995)  
34649036 Exon 8 Missense c.697G>C p.V233L Pathogenic Gort (2009)
34649038 Exon 8 Silent c.699C>A p.V233V Benign Maceratesi (1996)  
34649058 Exon 8 Deletion c.719_728del10 p.L240SfsX25 Pathogenic Calderon et al, unpublished
34649084 Exon 8 Missense c.745T>C p.W249R Pathogenic Tyfield (1999)  
34649086 Exon 8 Nonsense c.747G>A p.W249X Pathogenic Hirokawa (1999)  
34649087 Exon 8 Missense c.748C>A p.P250T Pathogenic University of Bristol, unpublished  
34649091 Exon 8 Missense c.752A>G p.Y251C Pathogenic Tyfield (1999)  
34649091 Exon 8 Missense c.752A>C? p.Y251S? Pathogenic Tyfield (1999)
34649092 Exon 8 Silent c.753C>T p.Y251Y Benign Calderon et al, unpublished
34649095 Exon 8 Missense c.756G>T p.Q252H Pathogenic University of Bristol, unpublished  
34649098 Exon 8 Silent c.759A>N p.T253T Benign Item (2002)  
34649100 Exon 8 Insertion c.761insT? p.L255AfsX12 Pathogenic University of Bristol, unpublished  
34649107 Exon 8 Deletion c.768_770del p.P257del Pathogenic Tyfield (1999)
34649109 Exon 8 Missense c.770C>T p.P257L Pathogenic Gort (2009)
34649111 Exon 8 Missense c.772C>T p.R258C Pathogenic Elsas (1998)
34649114 Exon 8 Missense c.775C>T? p.R259W? Pathogenic Tyfield (1999)
34649115 Exon 8 Missense c.776G>A p.R259Q Pathogenic Calderon et al, unpublished
34649117 Exon 8 Deletion c.778_789del p.H260_R263del Pathogenic Elsas (1998)  
34649124 Exon 8 Missense c.785G>C p.R262P Pathogenic Elsas (1998)  
34649129 Exon 8 Indel c.[790_792delC; 792_793insG] p.L264X Pathogenic Elsas (1998)
34649132 Exon 8 Missense c.793C>G p.P265A Pathogenic Gort (2006)
34649142 Exon 8 Missense c.803C>A p.T268N Benign Chhay et al, 2008
34649151 Exon 8 Missense c.812A>G p.E271G Pathogenic University of Bristol, unpublished  
34649153 Exon 8 Missense c.814C>G p.R272G Pathogenic Tyfield (1999)  
34649154 Exon 8 Missense c.815G>A p.R272H Pathogenic O'Brien et al, unpublished
34649173 Intron 8 c.820+13A>G Benign Kozak (1999)  
34649183 Intron 8 c.820+23T>G Benign Maceratesi (1996)  
34649218 Intron 8 c.820+58G>T Benign Kozak (1999)  
34649262 Intron 8 Splice Site c.821-2A>G Exon 9 skip Pathogenic Bosch (2005)  
34649266 Exon 9 Deletion c.824del p.L275fs Pathogenic Elsas (1998)  
34649275 Exon 9 Missense c.833T>A p.I278N Pathogenic Calderon (2007)
34649278 Exon 9 Missense c.836T>G p.M279R Pathogenic University of Bristol, unpublished  
34649286 Exon 9 Missense c.844C>G p.L282V Pathogenic Tyfield (1999)  
34649289 Exon 9 Missense c.858T>C p.Y286H Pathogenic Zaffanello (2005)  
34649296 Exon 9 Missense c.854A>G p.K285R Pathogenic Ramandeep Singh et al, unpublished
34649297 Exon 9 Missense c.855G>T p.K285N Pathogenic Leslie (1992)
34649307 Exon 9 Missense c.865C>T p.L289F Pathogenic Calderon (2007)
34649308 Exon 9 Missense c.866T>G p.L289R Pathogenic Tyfield (1999)  
34649313 Exon 9 Missense c.871G>A p.E291K Pathogenic Tyfield (1999)  
34649314 Exon 9 Missense c.872A>T p.E291V Pathogenic Calderon et al, unpublished
34649318 Exon 9 Silent c.876G>A p.T292T Benign Calderon et al, unpublished
34649321 Exon 9 Silent c.879C>T p.S293S Benign Calderon et al. unpublished
34649323 Exon 9 Missense c.881T>A p.F294Y Pathogenic Tyfield (1999)  
34649324 Exon 9 Deletion c.882del p.F294fs Pathogenic Tyfield (1999)  
34649325 Exon 9 Missense c.883C>A p.P295T Pathogenic University of Bristol, unpublished  
34649347 Intron 9 Splice Site c.904+1G>T p.? Pathogenic Calderon el al, unpublished
34649351 Intron 9 Splice Site c.904+5G>A p.? Pathogenic Calderon et al, unpublished
34649689 Exon 10 Nonsense c.920C>A p.S307X Pathogenic Singh (2011)
34649691 Exon 10 Missense c.922G>A p.E308K Pathogenic Elsas (1998)  
34649709 Exon 10 c.940A>G p.N314D Benign
(Duarte1) (Duarte 2)
Reichardt (1991)
34649714 Exon 10 Silent c.945T>C p.H315H Suspected Benign Lai (1996)
34649716 Exon 10 Nonsense c.947G>A? p.W316X? Pathogenic Sommer (1995)
34649717 Exon 10 Missense c.948G>A p.W316X Pathogenic Calderon et al, unpublished  
34649718 Exon 10 Deletion c.949del p.Q317fs Pathogenic Tyfield (1999)  
34649719 Exon 10 Missense c.950A>G p.Q317R Pathogenic Tyfield (1999)  
34649720 Exon 10 Missense c.951G>T p.Q317H Pathogenic Tyfield (1999)  
34649721 Exon 10 Deletion c.952del p.L318fs Pathogenic Elsas (1998)  
34649723 Exon 10 Silent c.954G>A p.L318L Benign Maceratesi (1996)  
34649726 Exon 10 Missense c.957C>A p.H319Q Pathogenic Reichardt (1993)  
34649726 Exon 10 Silent c.957C>T p.H319H Uncertain Ramandeep Singh et al, unpublished
34649727 Exon 10 Missense c.958G>A p.A320T Pathogenic Elsas (1995)  
34649728 Exon 10 Missense c.959C>T p.A320V Suspected Pathogenic Calderon et al. unpublished
34649730 Exon 10 Missense c.961C>T p.H321Y Pathogenic Webb (2003)
34649736 Exon 10 Missense c.967T>G p.Y323D Pathogenic Elsas (1995)  
34649736 Exon 10 Missense c.967T>C p.Y323H Pathogenic Tyfield (1999)  
34649737 Exon 10 Missense c.968A>G p.Y323C Pathogenic Dobrowski (2005)
34649739 Exon 10 Missense c.970C>T p.P324S Pathogenic Boleda (1995)  
34649741 Exon 10 Silent c.972T>C p.P324P Benign Maceratesi (1996)  
34649743 Exon 10 Missense c.974C>T? p.P325L? Pathogenic Greber-Platzer (1997)
34649745 Exon 10 Deletion c.976del p.L326fs Pathogenic University of Bristol, unpublished  
34649748 Exon 10 Deletion c.979del p.L327fs Pathogenic Elsas (1998)  
34649749 Exon 10 Missense c.980T>C p.L327P Pathogenic Calderon et al, unpublished
34649752 Exon 10 Missense c.983G>A p.R328H Pathogenic Elsas (1998)  
34649755 Exon 10 Missense c.986C>T p.S329F Pathogenic Tyfield (1999)  
34649758 Exon 10 Missense c.989C>T p.A330V Pathogenic Sommer (1995)  
34649766 Exon 10 Missense c.997C>G p.R333G Pathogenic Leslie (1992)  
34649767 Exon 10 Missense c.997C>T p.R333W Pathogenic Reichardt (1991)
34649767 Exon 10 Missense c.998G>A p.R333Q Pathogenic Hirokawa (1999)  
34649767 Exon 10 Missense c.998G>T p.R333L Pathogenic Ramandeep Singh et al, unpublished
34649770 Exon 10 Missense c.1001A>G p.K334R Pathogenic Leslie (1992)  
34649775 Exon 10 Missense c.1006A>T p.M336L Pathogenic Elsas (1998)
34649783 Exon 10 Silent c.1014C>G? p.G338G? Benign Tyfield (1999)
34649787 Exon 10 Missense c.1018G>A p.E340K Pathogenic University of Bristol, unpublished  
34649788 Exon 10 Nonsense c.1018G>T p.E340X Pathogenic Gathof (1995)  
34649793 Exon 10 Missense c.1024C>A p.L342I Pathogenic Item (2002)  
34649799 Exon 10 Missense c.1030C>A? p.Q344K? Pathogenic Elsas (1998)
34649800 Exon 10 Missense c.1034C>A p.A345D Pathogenic University of Bristol, unpublished  
34649816 Exon 10 Deletion c.1047del p.L349fs Pathogenic University of Bristol, unpublished  
34649817 Exon 10 Missense c.1048A>G p.T350A Pathogenic Shin (1996)  
34649820 Exon 10 Deletion c.1051del p.P351fs Pathogenic University of Bristol, unpublished  
34649826 Exon 10 Nonsense c.1057C>T p.Q353X Pathogenic University of Bristol, unpublished  
34649852 Intron 10 c.1059+24G>A Uncertain Calderon et al, unpublished
34649864 Intron 10 c.1059+36T>A Benign Tyfield (1999)  
34649884 Intron 10 Splice Site c.1059+56C>T p.Q353_A354ins
VRTQNSLASPDSHMQYVQ
Pathogenic Wadelius (1993)
34650638 Intron 10 Splice Site c.1060-1G>A Pathogenic Calderon et al, unpublished
34650651 Exon 11 Nonsense c.1072delC? p.L358X Pathogenic Webb (2003)
34650657 Exon 11 Indel c.1078_1083
delins20
Pathogenic Calderon et al, unpublished
34650668 Exon 11 Missense c.1087G>A p.E363K Uncertain Calderon et al. unpublished
34650677 Exon 11 Nonsense c.1098C>A p.Y366X Pathogenic Greber-Platzer (1997)  
34650687 Exon 11 Nonsense c.1108C>T p.Q370X Pathogenic University of Bristol, unpublished  
34650711 Exon 11 Missense c.1132A>G p.I378V Pathogenic University of Bristol, unpublished  
34650717 Exon 11 no-stop change? c.1138T>C p.X380RextX50 Pathogenic Tyfield (1999)
34650719 Exon 11 no-stop change? c.1140A>C p.X380Cext50 Pathogenic Bosch (2005)  
34650922 3'UTR c.1140+203C>T Benign Calderon et al, unpublished