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...


336 variants found

Genomic Position Location Mutation Type Nucleotide Change Protein Change Classification References Comments
0 Entire Gene Large Deletion Pathogenic Papachristoforou et. al. 2013
0 Entire Gene Large Deletion NULL NULL Pathogenic Papachristoforou et. al. 2013
34646381 5kb Gene Deletion 5kb del Pathogenic Berry (2001)
34646381 5'UTR Gene Deletion 5.5kb del? Pathogenic Coffee (2006)
34646586 5'UTR c.-119_-116del Mild Kozak (1999)
34646705 Exon 1 Missense c.1A>G p.M1V Pathogenic University of Bristol, unpublished  
34646722 Exon 1 Deletion c.18delC? p.D7IfsX43 Pathogenic Zaffanello (2005)  
34646729 Exon 1 Nonsense c.25C>T p.Q9X Pathogenic Gort (2009)
34646731 Exon 1 Missense c.27G>C p.Q9H Pathogenic Item (2002)  
34646737 Exon 1 Silent c.33C>T p.R11R Benign University of Bristol, unpublished  
34646745 Exon 1 Indel c.41delinsTT p.A14delinsV Pathogenic University of Bristol, unpublished  
34646771 Exon 1 Missense c.67A>G p.T23A Pathogenic Yang (2002)  
34646786 Exon 1 Missense c.82G>A p.D28N Pathogenic University of Bristol, unpublished  
34646786 Exon 1 Missense c.82G>C p.D28H Pathogenic Gort (2006)
34646786 Exon 1 Missense c.82G>T p.D28Y Pathogenic Greber-Platzer (1997)  
34647096 Exon 2 Missense c.90G>C p.Q30H Pathogenic O'Brien et al, unpublished
34647097 Exon 2 Missense c.91C>A p.H31N Pathogenic University of Bristol, unpublished  
34647101 Exon 2 Missense c.95T>A p.I32N Pathogenic Greber-Platzer (1997)  
34647104 Exon 2 Missense c.98G>A p.R33H Pathogenic Gort (2006)
34647104 Exon 2 Missense c.98G>C p.R33P Pathogenic Viggiano et al. 2015
34647106 Exon 2 Missense c.100T>A p.Y34N Pathogenic Calderon et al, unpublished
34647106 Exon 2 Missense c.100T>A p.Y34N Pathogenic Viggiano et al. 2015
34647113 Exon 2 Missense c.107C>T p.P36L Pathogenic University of Bristol, unpublished  
34647119 Exon 2 Missense c.113A>C p.Q38P Pathogenic Greber-Platzer (1997)  
34647123 Exon 2 Silent c.117T>C p.D39D Benign University of Bristol, unpublished  
34647136 Exon 2 Missense c.130G>A p.V44M Pathogenic Reichardt (1991)  
34647136 Exon 2 Missense c.130G>T p.V44L Pathogenic Elsas (1998)  
34647137 Exon 2 Missense c.131T>C p.V44A Pathogenic Calderon et al, unpublished
34647140 Exon 2 Nonsense c.134_138del p.A46fs Pathogenic Item (2002)
34647140 Exon 2 Missense c.134C>T p.S45L Pathogenic Zekanowski (1999)  
34647158 Exon 2 Missense c.152G>A p.R51Q Pathogenic Bosch (2005)  
34647158 Exon 2 Missense c.152G>T p.R51L Pathogenic Tyfield (1999)  
34647166 Exon 2 Nonsense c.160C>T p.Q54X Pathogenic University of Bristol, unpublished  
34647169 Exon 2 Missense c.163G>T p.G55C Pathogenic Tyfield (1999)  
34647178 Exon 2 Missense c.172G>A p.E58K Pathogenic Calderon et al, unpublished
34647190 Exon 2 Missense c.184C>A p.L62M Benign Reichardt (1991)  
34647203 Exon 2 Missense c.197C>A p.P66H Pathogenic Shin (2004)
34647203 Exon 2 Missense c.197C>T p.P66L Pathogenic University of Bristol, unpublished  
34647205 Exon 2 Missense c.199C>T p.R67C Pathogenic Sommer (1995)  
34647213 Exon 2 Deletion c.207_214del p.D69_72Pdel Pathogenic University of Bristol, unpublished  
34647226 Exon 2 Deletion c.220_221delCT p.L74fs (p.L74Pfs*18) Pathogenic University of Bristol, unpublished  
34647226 Exon 2 Deletion c.220_221delCT p.L74fs (p.L74Pfs*18) Pathogenic Viggiano et al. 2015
34647226 Exon 2 Insertion c.220_221insG p.L74fs Pathogenic Maceratesi (1996)  
34647227 Exon 2 Missense c.221T>C p.L74P Pathogenic Reichardt (1992)  
34647244 Exon 2 Nonsense c.238C>T p.R80X Pathogenic Tyfield (1999)  
34647247 Exon 2 Missense c.241G>A p.A81T Pathogenic Leslie (1992)  
34647247 Exon 2 Missense c.247G>A p.G83R Pathogenic University of Bristol, unpublished  
34647254 Exon 2 Missense c.248G>T p.G83V Pathogenic Viggiano et al. 2015
34647481 Intron 2 c.253-11C>T Suspected Benign Calderon et al, unpublished
34647490 Intron 2 Splice Site c.253-2A>G Pathogenic Yang (2002)
34647490 Intron 2 Splice Site c.253-2A>G Pathogenic
34647504 Exon 3 Missense c.265T>C p.Y89H Pathogenic Ramandeep Singh et al, unpublished
34647504 Exon 3 Missense c.265T>G p.Y89D Pathogenic University of Bristol, unpublished  
34647524 Exon 3 Missense c.285T>G p.F95L Pathogenic University of Bristol, unpublished  
34647525 Exon 3 Frameshift c.286_299delGACAACGACTTCCC p.D96Sfs*5 Pathogenic Choi et al 2014
34647525 Exon 3 Frameshift c.286_299delGACAACGACTTCCC p.D96Sfs*5 Pathogenic Choi et al 2015
34647529 Exon 3 Missense c.290A>G p.N97S Pathogenic Ashino (1995)
34647531 Exon 3 Missense c.292G>A p.D98N Pathogenic Tyfield (1999)
34647531 Exon 3 Missense c.292G>A p.D98N Pathogenic Calderon et al, unpublished
34647531 Exon 3 Missense c.292G>C p.D98H Pathogenic O'Brien et al, unpublished
34647541 Exon 3 Missense c.302C>A p.A101D Likely Pathogenic Choi et al 2014
34647547 Exon 3 Missense c.308A>G p.Q103R Pathogenic Ramandeep Singh et al, unpublished
34647548 Exon 3 Silent c.309G>A p.Q103Q Uncertain Ramandeep Singh et al, unpublished
34647569 Intron 3 Splice Site c.328+2T>C Pathogenic Gort (2009)
34647596 Intron 3 c.328+29G>C Benign University of Bristol, unpublished  
34647655 Intron 3 Splice Site c.329-2A>C Pathogenic Elsas (1995)  
34647656 Intron 3 Splice Site c.329-1G>A Pathogenic Calderon et al, unpublished
34647658 Exon 4 Silent c.330A>T p.G110G Benign University of Bristol, unpublished  
34647661 Exon 4 Insertion c.333_334insA p.S112fs Pathogenic Tyfield (1999)  
34647664 Exon 4 Missense c.336T>C p.S112R Pathogenic Velazquez-Aragon (2008)
34647665 Exon 4 Missense c.337G>A p.D113N Pathogenic Elsas (1998)  
34647669 Exon 4 Missense c.341A>T p.H114L Pathogenic Elsas (1998)  
34647674 Exon 4 Missense c.346C>A p.L116I Likely Pathogenic Ko et al. 2014
34647678 Exon 4 Missense c.350T>C p.F117S Pathogenic Elsas (1998)  
34647682 Exon 4 Missense c.354A>C p.Q118H Pathogenic Elsas (1998)  
34647695 Exon 4 Missense c.367C>G p.R123G Pathogenic Elsas (1998)  
34647696 Exon 4 Missense c.368G>A p.R123Q Pathogenic Elsas (1998)  
34647702 Exon 4 Missense c.374T>C p.V125A Pathogenic Elsas (1998)  
34647706 Intron 4 Splice Site c.377+1G>T Pathogenic Hirokawa (1999)  
34647707 Intron 4 Splice Site c.377+2T>A Mildly Pathogenic Calderon et al, unpublished
34647707 Intron 4 Splice Site c.377+2T>A Pathogenic Calderon et al. unpublished
34647758 Intron 4 c.377+53_ 1059
+87del
p.C126WfsX6 Pathogenic Gort (2006)
34647805 Intron 4 c.378-27G>C Benign
(Duarte 2)
Kozak (1999)
34647831 Intron 4 Splice Site c.378-1G>C Pathogenic Choi et al 2014
34647833 Exon 5 Missense c.379A>G? p.K127E? Pathogenic Tyfield (1999)
34647840 Exon 5 Missense c.386T>C p.M129T Pathogenic Tyfield (1999)  
34647843 Exon 5 Missense c.389G>A p.C130Y Pathogenic Elsas (1998)  
34647846 Exon 5 Missense c.392T>G p.F131C Pathogenic University of Bristol, unpublished  
34647848 Exon 5 Missense c.394C>T p.H132Y Pathogenic Elsas (1998)  
34647850 Exon 5 Missense c.396C>A p.H132Q Pathogenic Calderon et al, unpublished
34647852 Exon 5 Frameshift c.398_399dupCC p.W134PfsX5 Pathogenic Calderon et al. unpublished
34647854 Exon 5 Deletion c.400del p.W134fs Pathogenic Tyfield (1999)  
34647854 Exon 5 Deletion c.400delT p.W134Gfs*5 Pathogenic Viggiano et al. 2015
34647858 Exon 5 Missense c.404C>G p.S135W Pathogenic Bosch (2005)  
34647858 Exon 5 Missense c.404C>T p.S135L Pathogenic Reichardt (1992)
34647858 Exon 5 Missense c.404C>T p.S135L Pathogenic Calderon et al, unpublished
34647858 Exon 5 Missense c.404C>T p.S135L Pathogenic Calderon et al, unpublished
34647858 Exon 5 Missense c.404C>T p.S135L Pathogenic Calderon et al, unpublished
34647858 Exon 5 Missense c.404C>T p.S135L Pathogenic Calderon et al, unpublished
34647858 Exon 5 Missense c.404C>T p.S135L Pathogenic Calderon et al, unpublished
34647858 Exon 5 Missense c.404C>T p.S135L Pathogenic Calderon et al, unpublished
34647858 Exon 5 Missense c.404C>T p.S135L Pathogenic Calderon et al, unpublished
34647864 Exon 5 Insertion c.410dupT? p.T138NfsX8 Pathogenic Bosch (2005)  
34647867 Exon 5 Missense c.413C>T p.T138M Pathogenic Elsas (1995)  
34647867 Exon 5 Missense c.413C>T p.T138M Pathogenic Calderon et al, unpublished
34647870 Exon 5 Missense c.416T>C p.L139P Pathogenic Leslie (1992)  
34647878 Exon 5 Missense c.424A>G p.M142V Pathogenic Hirokawa (1999)  
34647879 Exon 5 Missense c.425T>A p.M142K Pathogenic Reichardt (1991)
34647879 Exon 5 Missense c.425T>A p.M142K Pathogenic Calderon et al, unpublished
34647879 Exon 5 Missense c.425T>C p.M142T Pathogenic Zaffanello (2005)  
34647879 Exon 5 Missense c.425T>C p.M142T Pathogenic Viggiano et al. 2015
34647882 Exon 5 Missense c.428C>T p.S143L Pathogenic Greber-Platzer (1997)  
34647896 Exon 5 Missense c.442C>G p.R148G Pathogenic Elsas (1998)  
34647896 Exon 5 Missense c.442C>T p.R148W Pathogenic Reichardt (1992)  
34647897 Exon 5 Missense c.443G>A p.R148Q Pathogenic Elsas (1995)  
34647902 Exon 5 Missense c.448G>C p.V150L Pathogenic Maceratesi (1996)  
34647906 Exon 5 Missense c.452T>C p.V151A Pathogenic Elsas (1995)
34647914 Exon 5 Missense c.460T>C p.W154R Pathogenic University of Bristol, unpublished  
34647914 Exon 5 Missense c.460T>G p.W154G Pathogenic Elsas (1995)  
34647916 Exon 5 Nonsense c.462G>A p.W154X Pathogenic University of Bristol, unpublished  
34647916 Exon 5 Nonsense c.462G>A p.W154X Pathogenic Viggiano et al. 2015
34647936 Exon 5 Missense c.482T>C p.L161P Pathogenic University of Bristol, unpublished  
34647944 Exon 5 Nonsense c.490C>T p.Q164X Pathogenic University of Bristol, unpublished  
34647947 Exon 5 Missense c.493T>C p.Y165H Uncertain Choi et al 2014
34647949 Exon 5 Silent c.495C>T p.Y165Y Benign University of Bristol, unpublished  
34647950 Exon 5 Missense c.496C>G p.P166A Pathogenic Ramandeep Singh et al, unpublished
34647953 Exon 5 Missense c.499T>C p.W167R Pathogenic Zekanowski (1999)  
34647956 Exon 5 Missense c.502G>T p.V168L Pathogenic Calderon et al, unpublished
34647959 Exon 5 Missense c.505C>A p.Q169K Pathogenic University of Bristol, unpublished  
34647963 Intron 5 Splice Site c.507+2T>C Pathogenic Zekanowski (1999)  
34648023 Intron 5 c.507+62G>A Benign
(Duarte 2)
Kozak (1999)
34648077 Intron 5 c.508-38T>C Benign University of Bristol, unpublished  
34648086 Intron 5 c.508-29del Uncertain Bosch (2005)
34648091 Intron 5 c.508-24G>A Benign
(Duarte 2)
Kozak (1999)
34648098 Intron 5 c.508-17G>A Benign Calderon et al, unpublished
34648104 Intron 5 c.508-11C>A Benign Maceratesi (1996)  
34648104 Intron 5 c.508-11C>G Benign Maceratesi (1996)  
34648110 Intron 5 Splice Site c.508-5G>C Pathogenic Maceratesi (1996)  
34648116 Exon 6 Missense c.509T>A p.I170N Pathogenic Gort (2009)
34648116 Exon 6 Missense c.509T>C p.I170T Pathogenic Calderon et al, unpublished
34648117 Exon 6 Silent c.510C>T p.I170I Benign Item (2002)  
34648119 Exon 6 Missense c.512T>C? p.F171S Pathogenic Reichardt (1992)
34648131 Exon 6 Missense c.524G>A p.G175D Pathogenic University of Bristol, unpublished  
34648135 Exon 6 Insertion c.528_529insG p.M177fsX5 Pathogenic Maceratesi (1996)  
34648143 Exon 6 Missense c.536G>A p.G179D Pathogenic Hirokawa (1999)  
34648146 Exon 6 Missense c.539G>T p.C180F Pathogenic Gort (2009)
34648148 Exon 6 Missense c.541T>G p.S181A Pathogenic Gort (2006)
34648149 Exon 6 Missense c.542C>T p.S181F Pathogenic Ramandeep Singh et al, unpublished
34648154 Exon 6 Missense c.547C>A p.P183T Pathogenic Maceratesi (1996)  
34648157 Exon 6 Missense c.550C>G p.H184D Pathogenic University of Bristol, unpublished  
34648159 Exon 6 Missense c.552C>A p.H184Q Pathogenic Tyfield (1999)  
34648160 Exon 6 Missense c.553C>T p.P185S Pathogenic Gort (2006)
34648161 Exon 6 Missense c.554C>A p.P185H Pathogenic Calderon (2007)
34648161 Exon 6 Missense c.554C>T p.P185L Pathogenic University of Bristol, unpublished  
34648163 Exon 6 Missense c.556C>T p.H186Y Pathogenic University of Bristol, unpublished  
34648170 Exon 6 Missense c.563A>G p.Q188R Pathogenic Reichardt (1992)
34648170 Exon 6 Missense c.563A>G p.Q188R Pathogenic Calderon et al., unplublished
34648170 Exon 6 Missense c.563A>G p.Q188R Pathogenic Calderon et al, unpublished
34648170 Exon 6 Missense c.563A>G p.Q188R Pathogenic Calderon et al, unpublished
34648170 Exon 6 Missense c.563A>G p.Q188R Pathogenic Calderon et al, unpublished
34648170 Exon 6 Missense c.563A>G p.Q188R Pathogenic Calderon et al, unpublished
34648170 Exon 6 Missense c.563A>C p.Q188P Pathogenic Tran et al 2015
34648172 Intron 6 Splice Site c.564+1G>A Pathogenic University of Bristol, unpublished  
34648186 Intron 6 c.564+15G>A Benign University of Bristol, unpublished  
34648203 Intron 6 c.564+32T>A Benign University of Bristol, unpublished  
34648332 Intron 6 Splice Site c.565-2A>G Pathogenic University of Bristol, unpublished  
34648343 Exon 7 Missense c.574A>G p.S192G Pathogenic Gort (2006)
34648344 Exon 7 Missense c.575G>A p.S192N Pathogenic Elsas (1995)  
34648349 Exon 7 Missense c.580T>C p.F194L Pathogenic Tyfield (1999)  
34648352 Exon 7 Silent c.583C>T p.L195L Benign University of Bristol, unpublished  
34648353 Exon 7 Missense c.584T>C p.L195P Pathogenic Reichardt (1992)
34648363 Exon 7 Missense c.594T>G p.I198M Pathogenic Tyfield (1999)  
34648364 Exon 7 Missense c.595G>A p.A199T Pathogenic Tyfield (1999)  
34648367 Exon 7 Deletion c.598del p.Q200fs Pathogenic Elsas (1998)  
34648370 Exon 7 Missense c.601C>T p.R201C Pathogenic Calderon (2007)
34648371 Exon 7 Missense c.602G>A p.R201H Pathogenic Elsas (1995)
34648371 Exon 7 Missense c.602G>A p.R201H Pathogenic Choi et al 2014
34648373 Exon 7 Missense c.604G>A p.E202K Pathogenic Calderon et al., unplublished
34648376 Exon 7 Missense c.607G>A p.E203K Pathogenic Elsas (1995)
34648379 Exon 7 Nonsense c.610C>T p.R204X Pathogenic Tyfield (1999)
34648380 Exon 7 Missense c.611G>C p.R204P Pathogenic Tyfield (1999)  
34648388 Exon 7 Nonsense c.619C>T p.Q207X Pathogenic Yang (2002)  
34648395 Exon 7 Missense c.626A>C p.Y209S Pathogenic Elsas (1998)  
34648395 Exon 7 Missense c.626A>G p.Y209C Pathogenic Elsas (1998)
34648399 Exon 7 Silent c.630G>A p.K210K Uncertain Ramandeep Singh et al, unpublished
34648403 Exon 7 Nonsense c.634C>T p.Q212X Pathogenic Gathof (1995)
34648404 Exon 7 Missense c.635A>C p.Q212P Pathogenic O'Brien et al, unpublished
34648419 Exon 7 Missense c.650T>C p.L217P Pathogenic Tyfield (1999)  
34648421 Exon 7 Missense c.652C>G p.L218V Pathogenic O'Brien et al, unpublished
34648421 Exon 7 Silent c.652C>T p.L218L Benign
(Duarte 1)
Gathof (1995)
34648421 Exon 7 Deletion c.652del p.L218X Pathogenic Calderon (2007)
34648427 Exon 7 Insertion c.658dupG p.E220fsX17 Pathogenic Gort (2006)
34648427 Exon 7 Missense c.658G>A p.E220K Pathogenic Calderon (2007)
34648436 Exon 7 Missense c.667C>A p.R223S Pathogenic Calderon (2007)
34648445 Exon 7 Missense c.676C>G p.L226V Pathogenic University of Bristol, unpublished  
34648446 Exon 7 Missense c.677T>C p.L226P Pathogenic Elsas (1998)  
34648449 Exon 7 Missense c.680T>C p.L227P Pathogenic Calderon el al, unpublished
34648456 Exon 7 Missense c.687G>T p.K229N Pathogenic Bosch (2005)  
34648458 Intron 7 Splice Site c.687+2T>C Pathogenic Tyfield (1999)  
34648765 Exon 8 Missense c.691C>T p.R231C Pathogenic University of Bristol, unpublished  
34648766 Exon 8 Missense c.692G>A p.R231H Pathogenic Ashino (1995)
34648766 Exon 8 Missense c.692G>A p.R231H Pathogenic Calderon et al, unpublished
34648771 Exon 8 Missense c.697G>C p.V233L Pathogenic Gort (2009)
34648773 Exon 8 Silent c.699C>A p.V233V Benign Maceratesi (1996)  
34648793 Exon 8 Deletion c.719_728del10 p.L240SfsX25 Pathogenic Calderon et al, unpublished
34648804 Exon 8 Missense c.730C>T p.P244S Pathogenic Viggiano et al. 2015
34648819 Exon 8 Missense c.745T>C p.W249R Pathogenic Tyfield (1999)  
34648821 Exon 8 Nonsense c.747G>A p.W249X Pathogenic Hirokawa (1999)
34648822 Exon 8 Missense c.748C>A p.P250T Pathogenic University of Bristol, unpublished  
34648826 Exon 8 Indel c.752_753delinsCT p.Y251S Pathogenic Calderon et al, unpublished
34648826 Exon 8 Missense c.752A>C? p.Y251S? Pathogenic Tyfield (1999)
34648826 Exon 8 Missense c.752A>G p.Y251C Pathogenic Tyfield (1999)  
34648827 Exon 8 Silent c.753C>T p.Y251Y Benign Calderon et al, unpublished
34648830 Exon 8 Missense c.756G>T p.Q252H Pathogenic University of Bristol, unpublished  
34648833 Exon 8 Silent c.759A>N p.T253T Benign Item (2002)  
34648835 Exon 8 Insertion c.761insT? p.L255AfsX12 Pathogenic University of Bristol, unpublished  
34648842 Exon 8 Deletion c.768_770del p.P257del Pathogenic Tyfield (1999)
34648843 Exon 8 Missense c.769C>A p.P257T Pathogenic Choi et al 2014
34648844 Exon 8 Missense c.770C>T p.P257L Pathogenic Gort (2009)
34648846 Exon 8 Missense c.772C>T p.R258C Pathogenic Elsas (1998)
34648849 Exon 8 Missense c.775C>T p.R259W Pathogenic Tyfield (1999)
34648849 Exon 8 Missense c.775C>T p.R259W Pathogenic Calderon et al, unpublished
34648850 Exon 8 Missense c.776G>A p.R259Q Pathogenic Calderon et al, unpublished
34648852 Exon 8 Deletion c.778_789del p.H260_R263del Pathogenic Elsas (1998)  
34648859 Exon 8 Missense c.785G>C p.R262P Pathogenic Elsas (1998)  
34648864 Exon 8 Indel c.[790_792delC; 792_793insG] p.L264X Pathogenic Elsas (1998)
34648867 Exon 8 Missense c.793C>G p.P265A Pathogenic Gort (2006)
34648873 Exon 8 Missense c.799C>G p.L267V Pathogenic Viggiano et al. 2015
34648874 Exon 8 Missense c.800T>G p.L267R Pathogenic Viggiano et al. 2015
34648877 Exon 8 Missense c.803C>A p.T268N Benign Chhay et al, 2008
34648886 Exon 8 Missense c.812A>G p.E271G Pathogenic University of Bristol, unpublished  
34648886 Exon 8 Missense c.812G>C p.E271D Pathogenic Viggiano et al. 2015
34648888 Exon 8 Missense c.814C>G p.R272G Pathogenic Tyfield (1999)  
34648889 Exon 8 Missense c.815G>A p.R272H Pathogenic O'Brien et al, unpublished
34648907 Intron 8 Splice Site c.820+13A>G p.D274Gfs*17 Pathogenic Rivera et al. (2014 submitted)
34648917 Intron 8 c.820+23T>G Benign Maceratesi (1996)  
34648952 Intron 8 c.820+58G>T Benign Kozak (1999)  
34648975 Intron 8 c.821-23dupT Uncertain Calderon et al, unpublished
34648991 Intron 8 Splice Site c.821-7A>G Exon 9 skip? Uncertain Choi et al 2014
34648996 Intron 8 Splice Site c.821-2A>G Exon 9 skip Pathogenic Bosch (2005)  
34649001 Exon 9 Deletion c.824del p.L275fs Pathogenic Elsas (1998)  
34649003 Exon 9 Indel c.826_827delinsAA p.A276N Likely Pathogenic
34649010 Exon 9 Missense c.833T>A p.I278N Pathogenic Calderon (2007)
34649013 Exon 9 Missense c.836T>G p.M279R Pathogenic University of Bristol, unpublished  
34649021 Exon 9 Missense c.844C>G p.L282V Pathogenic Tyfield (1999)  
34649031 Exon 9 Missense c.854A>G p.K285R Pathogenic Ramandeep Singh et al, unpublished
34649032 Exon 9 Missense c.855G>T p.K285N Pathogenic Leslie (1992)
34649032 Exon 9 Missense c.855G>T p.K285N Pathogenic Calderon et al, unpublished
34649032 Exon 9 Missense c.855G>T p.K285N Pathogenic Viggiano et al. 2015
34649032 Exon 9 Missense c.855G>T p.K285N Pathogenic Viggiano et al. 2015
34649035 Exon 9 Missense c.858T>C p.Y286H Pathogenic Zaffanello (2005)  
34649042 Exon 9 Missense c.865C>T p.L289F Pathogenic Calderon (2007)
34649043 Exon 9 Missense c.866T>G p.L289R Pathogenic Tyfield (1999)  
34649048 Exon 9 Missense c.871G>A p.E291K Pathogenic Tyfield (1999)  
34649049 Exon 9 Missense c.872A>T p.E291V Pathogenic Calderon et al, unpublished
34649053 Exon 9 Silent c.876G>A p.T292T Benign Calderon et al, unpublished
34649053 Exon 9 Silent c.876G>A p.T292T Benign Calderon et al, unpublished
34649053 Exon 9 Silent c.876G>A p.T292T Benign Calderon et al, unpublished
34649053 Exon 9 Silent c.876G>A p.T292T Benign Calderon et al, unpublished
34649053 Exon 9 Silent c.876G>A p.T292T Benign Calderon et al, unpublished
34649056 Exon 9 Silent c.879C>T p.S293S Benign Calderon et al. unpublished
34649058 Exon 9 Missense c.881T>A p.F294Y Pathogenic Tyfield (1999)  
34649059 Exon 9 Deletion c.882del p.F294fs Pathogenic Tyfield (1999)  
34649060 Exon 9 Missense c.883C>A p.P295T Pathogenic University of Bristol, unpublished
34649082 Intron 9 Splice Site c.904+1G>T p.? Pathogenic Calderon el al, unpublished
34649086 Intron 9 Splice Site c.904+5G>A p.? Pathogenic Calderon et al, unpublished
34649425 Exon 10 Nonsense c.920C>A p.S307X Pathogenic Singh et al. (2011)
34649427 Exon 10 Missense c.922G>A p.E308K Pathogenic Elsas (1998)  
34649445 Exon 10 Missense c.940A>G p.N314D Benign
(Duarte1)
Mild (Duarte 2)
Reichardt (1991)
34649450 Exon 10 Silent c.945T>C p.H315H Benign Lai (1996)
34649450 Exon 10 Silent c.945T>C p.H315H Benign Calderon et al, unpublished
34649450 Exon 10 Silent c.945T>C p.H315H Benign Calderon et al, unpublished
34649450 Exon 10 Silent c.945T>C p.H315H Benign Calderon et al, unpublished
34649450 Exon 10 Silent c.945T>C p.H315H Benign Calderon et al, unpublished
34649452 Exon 10 Nonsense c.947G>A? p.W316X? Pathogenic Sommer (1995)
34649453 Exon 10 Missense c.948G>A p.W316X Pathogenic Calderon et al, unpublished  
34649454 Exon 10 Deletion c.949del p.Q317fs Pathogenic Tyfield (1999)  
34649455 Exon 10 Missense c.950A>G p.Q317R Pathogenic Tyfield (1999)  
34649456 Exon 10 Missense c.951G>T p.Q317H Pathogenic Tyfield (1999)  
34649457 Exon 10 Deletion c.952del p.L318fs Pathogenic Elsas (1998)  
34649459 Exon 10 Silent c.954G>A p.L318L Benign Maceratesi (1996)  
34649462 Exon 10 Missense c.957C>A p.H319Q Pathogenic Reichardt (1993)  
34649462 Exon 10 Silent c.957C>T p.H319H Uncertain Ramandeep Singh et al, unpublished
34649463 Exon 10 Missense c.958G>A p.A320T Pathogenic Elsas (1995)  
34649464 Exon 10 Missense c.959C>T p.A320V Suspected Pathogenic Calderon et al. unpublished
34649466 Exon 10 Missense c.961C>T p.H321Y Pathogenic Webb (2003)
34649466 Exon 10 Missense c.961C>T p.H321Y Pathogenic Calderon et al. unpublished
34649472 Exon 10 Missense c.967T>C p.Y323H Pathogenic Tyfield (1999)  
34649472 Exon 10 Missense c.967T>G p.Y323D Pathogenic Elsas (1995)  
34649473 Exon 10 Missense c.968A>G p.Y323C Pathogenic Dobrowski (2005)
34649475 Exon 10 Missense c.970C>T p.P324S Pathogenic Boleda (1995)  
34649477 Exon 10 Silent c.972T>C p.P324P Benign Maceratesi (1996)  
34649479 Exon 10 Missense c.974C>T? p.P325L? Pathogenic Greber-Platzer (1997)
34649481 Exon 10 Deletion c.976del p.L326fs Pathogenic University of Bristol, unpublished  
34649484 Exon 10 Deletion c.979del p.L327fs Pathogenic Elsas (1998)  
34649485 Exon 10 Missense c.980T>C p.L327P Pathogenic Calderon et al, unpublished
34649488 Exon 10 Missense c.983G>A p.R328H Pathogenic Elsas (1998)  
34649491 Exon 10 Missense c.986C>T p.S329F Pathogenic Tyfield (1999)  
34649494 Exon 10 Missense c.989C>T p.A330V Pathogenic Sommer (1995)  
34649502 Exon 10 Missense c.997C>G p.R333G Pathogenic Leslie (1992)
34649502 Exon 10 Missense c.997C>T p.R333W Pathogenic Reichardt (1991)
34649502 Exon 10 Missense c.997C>T p.R333W Pathogenic Calderon et al, unpublished
34649502 Exon 10 Missense c.997C>T p.R333W Pathogenic Calderon et al, unpublished
34649502 Exon 10 Missense c.997C>T p.R333W Pathogenic Viggiano et al. 2015
34649503 Exon 10 Missense c.998G>A p.R333Q Pathogenic Hirokawa (1999)  
34649503 Exon 10 Missense c.998G>A p.R333Q Pathogenic Choi et al 2014
34649503 Exon 10 Missense c.998G>A p.R333Q Pathogenic Choi et al 2014
34649503 Exon 10 Missense c.998G>T p.R333L Pathogenic Singh et al, unpublished
34649506 Exon 10 Missense c.1001A>G p.K334R Pathogenic Leslie (1992)  
34649511 Exon 10 Missense c.1006A>T p.M336L Pathogenic Elsas (1998)
34649519 Exon 10 Silent c.1014C>G p.G338G Uncertain Tyfield (1999)
34649519 Exon 10 Silent c.1014C>G p.G338G Uncertain Calderon et al, unpublished
34649523 Exon 10 Missense c.1018G>A p.E340K Pathogenic University of Bristol, unpublished  
34649523 Exon 10 Nonsense c.1018G>T p.E340X Pathogenic Gathof (1995)  
34649529 Exon 10 Missense c.1024C>A p.L342I Pathogenic Item (2002)  
34649535 Exon 10 Missense c.1030C>A p.Q344K Pathogenic Elsas (1998)
34649539 Exon 10 Missense c.1034C>A p.A345D Pathogenic University of Bristol, unpublished
34649552 Exon 10 Deletion c.1047del p.L349fs Pathogenic University of Bristol, unpublished  
34649553 Exon 10 Missense c.1048A>G p.T350A Pathogenic Shin (1996)  
34649556 Exon 10 Deletion c.1051del p.P351fs Pathogenic University of Bristol, unpublished  
34649562 Exon 10 Nonsense c.1057C>T p.Q353X Pathogenic University of Bristol, unpublished  
34649588 Intron 10 c.1059+24G>A Uncertain Calderon et al, unpublished
34649600 Intron 10 c.1059+36T>A Benign Tyfield (1999)  
34649620 Intron 10 Splice Site c.1059+56C>T p.Q353_A354ins
VRTQNSLASPDSHMQYVQ
Pathogenic Wadelius (1993)
34650369 Intron 10 Splice Site c.1060-1G>A Pathogenic Calderon et al, unpublished
34650382 Exon 11 Nonsense c.1072delC? p.L358X Pathogenic Webb (2003)
34650388 Exon 11 Indel c.1078_1083
delins20
Pathogenic Calderon et al, unpublished
34650397 Exon 11 Missense c.1087G>A p.E363K Uncertain Calderon et al. unpublished
34650397 Exon 11 Missense c.1087G>A p.E363K Likely Pathogenic Choi et al 2014
34650408 Exon 11 Nonsense c.1098C>A p.Y366X Pathogenic Greber-Platzer (1997)  
34650413 Exon 11 Missense c.1103T>C p.L368P Mildly Pathogenic Calderon et al, unpublished
34650418 Exon 11 Nonsense c.1108C>T p.Q370X Pathogenic University of Bristol, unpublished  
34650442 Exon 11 Missense c.1132A>G p.I378V Pathogenic University of Bristol, unpublished  
34650448 Exon 11 no-stop change? c.1138T>C p.X380RextX50 Pathogenic Tyfield (1999)
34650450 Exon 11 no-stop change? c.1140A>C p.X380Cext50 Pathogenic Bosch (2005)  
34650652 3'UTR c.1140+203C>T Benign Calderon et al, unpublished