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
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)
34646706	Exon 1	Missense	c.2T>C	p.M1T	Pathogenic	Crespo, C. et.al. 2015 Personal Communication
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G	p.M1V	Pathogenic	University of Bristol, unpublished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T	p.R11R	Benign	University of Bristol, unpublished
34646745	Exon 1	Indel	c.41delinsTT	p.A14delinsV	Pathogenic	University of Bristol, unpublished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A	p.D28N	Pathogenic	University of Bristol, unpublished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C	p.Q30H	Pathogenic	O'Brien et al, unpublished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A	p.H31N	Pathogenic	University of Bristol, unpublished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A	p.Y34N	Pathogenic	Calderon et al, unpublished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T	p.P36L	Pathogenic	University of Bristol, unpublished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C	p.D39D	Benign	University of Bristol, unpublished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
34648370	Exon 7	Missense	c.601C>A	p.R201S	Likely Pathogenic	Crespo, C. et.al. Personal Communication
34648435	Exon 7	Missense	c.666C>A	p.S222R	Likely Pathogenic	Crespo, C. et.al. 2015 Personal Communication
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)
34648762	Exon 8	Missense	c.688G>A	p.E230K	Uncertain	Crespo, C. et.al. Personal Communication
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
34646789	Intron 1	Splice Site	c.82+3A>G		Pathogenic	De Lucca, M et.al. 2017
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