|
HGVS sequence name |
HGVS protein name |
Usual name* |
Classification** |
Status** |
Simple variant |
Complex alleles |
|
| 5 flanking | c.-1880_527+533del | p.? | c.-1880_527+533del | Likely pathogenic | To be validated |
| | 2020-01-29 |
| 5 flanking | c.-464_-463delGCinsTT | - | c.-464_-463delGCinsTT | Not classified | To be validated |
| | 2005-12-29 |
| 5 flanking | c.-325A>T | - | c.-325A>T | Not classified | To be validated |
| | 2006-04-05 |
| 5 flanking | c.-228G>A | - | c.-228G>A | Not classified | To be validated |
| | 2005-12-29 |
| 5 flanking | c.-207T>A | - | c.-207T>A | Not classified | To be validated |
| | 2006-04-13 |
| 5UT | c.-14_78del | p.(Met1_Lys26del) | del EXON 2 | Likely pathogenic | VALIDATED |
| | 2002-05-27 |
| exon 2 | c.1A>C | p.0 | M1L | Pathogenic | VALIDATED |
| | 2012-01-30 |
| exon 2 | c.3G>C | p.0 | Met1? | Pathogenic | VALIDATED |
| | 2013-02-05 |
| exon 2 | c.14T>C | p.(Val5Ala) | V5A | Uncertain significance (VUS) | PROVISIONAL |
| | 2010-08-26 |
| exon 2 | c.16_34del | p.(Leu6Glyfs*16) | L6fs | Pathogenic | VALIDATED |
| | 2004-12-16 |
| exon 2 | c.22G>C | p.(Val8Leu) | V8L | Likely pathogenic | VALIDATED |
| | 2003-10-13 |
| exon 2 | c.22G>A | p.(Val8Met) | V8M | Likely pathogenic | VALIDATED |
| | 2013-08-16 |
| exon 2 | c.23T>A | p.(Val8Glu) | V8E | Likely pathogenic | PROVISIONAL |
| | 2013-05-06 |
| exon 2 | c.29C>T | p.(Ala10Val) | A10V | Likely pathogenic | VALIDATED |
| | 2012-01-30 |
| exon 2 | c.31C>T | p.(Pro11Ser) | P11S | Not classified | To be validated |
| | 2020-02-12 |
| exon 2 | c.34G>C | p.(Gly12Arg) | G11R | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
| exon 2 | c.37A>T | p.(Lys13*) | K13X | Pathogenic | VALIDATED |
| | 2002-02-05 |
| exon 2 | c.37A>C | p.(Lys13Gln) | K13Q | Likely pathogenic | VALIDATED |
| | 2017-08-16 |
| exon 2 | c.38_39insTCTG | p.(Lys13Asnfs*68) | K13Nfs*68 | Not classified | To be validated |
| | 2013-08-30 |
| exon 2 | c.52G>A | p.(Gly18Arg) | G18R | Likely pathogenic | VALIDATED |
| | 2007-08-22 |
| exon 2 | c.55G>A | p.(Glu19Lys) | E19K | Unsolved | UNSOLVED |
| | 2014-04-01 |
| exon 2 | c.58C>A | p.(His20Asn) | H20N | Pathogenic | VALIDATED |
| | 2002-02-05 |
| exon 2 | c.59A>C | p.(His20Pro) | H20P | Pathogenic | VALIDATED |
| | 2002-02-05 |
| exon 2 | c.59A>G | p.(His20Arg) | H20R | Likely pathogenic | To be validated |
| | 2019-07-11 |
| exon 2 | c.60T>A | p.(His20Gln) | H20Q | Pathogenic | VALIDATED |
| | 2004-12-16 |
| exon 2 | c.62C>T | p.(Ala21Val) | A21V | Likely pathogenic | VALIDATED |
| | 2012-10-12 |
| exon 2 | c.64G>A | p.(Val22Met) | V22M | Unsolved | UNSOLVED |
| | 2013-08-16 |
| exon 2 | c.71A>C | p.(His24Pro) | H24P | Pathogenic | VALIDATED |
| | 2014-09-26 |
| exon 2 | c.72dup | p.(Gly25Trpfs*55) | G25fs | Pathogenic | VALIDATED |
| | 2003-08-04 |
| exon 2 | c.74G>T | p.(Gly25Val) | G25V | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 2 | c.75C>T | p.(Lys26Serfs*52) | G25G | Likely pathogenic | VALIDATED |
| | 2003-12-15 |
| intron 2 | c.78+2del | - | IVS2+2delT | Likely pathogenic | VALIDATED |
| | 2007-07-03 |
| intron 2 | c.78+3A>G | - | c.78+3A>G | Uncertain significance (VUS) | PROVISIONAL |
| | 2010-07-23 |
| intron 2 | c.78+10C>T | - | c.78+10C>T | Likely benign | VALIDATED |
| | 2012-12-07 |
| intron 2 | c.78+61A>G | - | c.78+61A>G | Likely benign | VALIDATED |
| | 2004-12-16 |
| intron 2 | c.78+177G>A | - | c.78+177G>A | Likely benign | VALIDATED |
| | 2004-12-16 |
| intron 2 | c.79-62G>A | - | c.79-62G>A | Likely benign | VALIDATED |
| | 2004-12-16 |
| exon 3 | c.79_226del | p.(Val27Serfs*16) | del EXON 3 | Pathogenic | VALIDATED |
| | 2003-09-23 |
| exon 3 | c.82G>A | p.(Ala28Thr) | A28T | Pathogenic | VALIDATED |
| | 2012-10-02 |
| exon 3 | c.86del | p.(Leu29Argfs*5) | L29fs | Pathogenic | VALIDATED |
| | 2008-02-26 |
| exon 3 | c.104T>C | p.(Leu35Ser) | L35S | Pathogenic | VALIDATED |
| | 2003-07-21 |
| exon 3 | c.107G>C | p.(Arg36Thr) | R36T | Likely pathogenic | PROVISIONAL |
| | 2011-03-04 |
| exon 3 | c.116T>C | p.(Leu39Pro) | L39P | Pathogenic | VALIDATED |
| | 2002-02-05 |
| exon 3 | c.118C>T | p.(Arg40Trp ) | R40W | Likely pathogenic | VALIDATED |
| | 2010-05-18 |
| exon 3 | c.119G>T | p.(Arg40Leu) | R40L | Unsolved | UNSOLVED |
| | 2013-05-06 |
| exon 3 | c.122T>C | p.(Leu41Pro) | L41P | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
| exon 3 | c.122T>G | p.(Leu41Arg) | L41R | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 3 | c.129_130del | p.(His44Glnfs*35) | H44fs | Pathogenic | VALIDATED |
| | 2006-09-21 |
| exon 3 | c.151C>T | p.(Leu51Phe) | L51F | Likely pathogenic | PROVISIONAL |
| | 2011-03-04 |
| exon 3 | c.155G>A | p.(Ser52Asn) | S52N | Benign | VALIDATED |
| | 2002-02-05 |
| exon 3 | c.166A>G | p.(Ile56Val) | I56V | Uncertain significance (VUS) | VALIDATED |
| | 2013-08-16 |
| exon 3 | c.185G>A | p.(Trp62*) | W62X(c.185) | Pathogenic | VALIDATED |
| | 2002-02-05 |
| exon 3 | c.186G>A | p.(Trp62*) | W62X(c.186) | Pathogenic | VALIDATED |
| | 2014-05-19 |
| exon 3 | c.205T>A | p.(Ser69Thr) | S69T | Unsolved | UNSOLVED |
| | 2014-07-29 |
| intron 3 | c.226+2del | p.? | c.226+2del | Not classified | To be validated |
| | 2020-01-28 |
| intron 3 | c.227-3C>G | - | c.227-3C>G | Unsolved | UNSOLVED |
| | 2008-04-30 |
| intron 3 | c.227-1G>A | - | c.227-1G>A | Likely pathogenic | VALIDATED |
| | 2012-06-12 |
| intron 3 | c.227-?_371+?dup | p.? | L126Rfs*2 | Likely pathogenic | To be validated |
| | 2020-06-02 |
| exon 4 | c.235G>A | p.(Asp79Asn) | D79N | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 4 | c.235G>T | p.(Asp79Tyr) | D79Y | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 4 | c.238G>A | p.(Val80Ile) | V80I | Likely benign | VALIDATED |
| | 2003-10-08 |
| exon 4 | c.254C>G | p.(Ser85*) | S85* | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 4 | c.277_283del | p.(Glu93Glnfs*38) | E93fs | Pathogenic | VALIDATED |
| | 2006-09-21 |
| exon 4 | c.289del | p.(Leu97Cysfs*36) | L97fs | Pathogenic | VALIDATED |
| | 2012-08-30 |
| exon 4 | c.325G>C | p.(Val109Leu) | V109L | Likely pathogenic | To be validated |
| | 2019-07-11 |
| exon 4 | c.340_344del | p.(Tyr114Ilefs*71) | Y114fs | Pathogenic | VALIDATED |
| | 2006-09-21 |
| exon 4 | c.346T>C | p.(Tyr116His) | Y116H | Likely pathogenic | VALIDATED |
| | 2009-09-10 |
| exon 4 | c.350T>C | p.(Leu117Pro) | L117P | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
| exon 4 | c.357C>G | p.(Ile119Met) | I119M | Likely pathogenic | VALIDATED |
| | 2004-12-16 |
| exon 4 | c.370A>T | p.(Arg124Trp) | R124W | Likely pathogenic | VALIDATED |
| | 2013-08-16 |
| intron 4 | c.371+2T>A | p.? | c.371+2T>A | Likely pathogenic | To be validated |
| | 2020-01-28 |
| intron 4 | c.371+8C>T | - | c.371+8C>T | Likely benign | VALIDATED |
| | 2004-12-16 |
| intron 4 | c.371+49A>G | - | c.371+49A>G | Likely benign | VALIDATED |
| | 2013-10-01 |
| intron 4 | c.372-6T>C | - | c.372-6T>C | Unsolved | UNSOLVED |
| | 2012-10-12 |
| intron 4 | c.372-3C>T | - | c.372-3C>T | Uncertain significance (VUS) | VALIDATED |
| | 2006-05-02 |
| exon 5 | c.372_527del | p.(Ala125_Arg176del) | del EXON 5 | Pathogenic | VALIDATED |
| | 2002-05-27 |
| exon 5 | c.380C>T | p.(Pro127Leu) | P127L | Uncertain significance (VUS) | VALIDATED |
| | 2014-02-24 |
| exon 5 | c.382_383delAG | p.(Ser128Profs*58) | S128Pfs* | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 5 | c.389A>G | p.(Asp130Gly) | D130G | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 |
| exon 5 | c.394G>A | p.(Val132Ile) | V132I | Pathogenic | VALIDATED |
| | 2004-12-16 |
| exon 5 | c.395del | p.(Val132Glufs*27) | V132Efs*25 | Likely pathogenic | VALIDATED |
| | 2013-07-11 |
| exon 5 | c.401G>A | p.(Trp134*) | W134X | Pathogenic | VALIDATED |
| | 2011-03-04 |
| exon 5 | c.404C>T | p.(Ser135Leu) | S135L | Likely pathogenic | VALIDATED |
| | 2002-02-05 |
| exon 5 | c.405G>A | p.(Ser135=) | S135S | Benign | VALIDATED |
| | 2004-12-16 |
| exon 5 | c.417dupC | p.(Gly140Argfs*47) | G140fs | Not classified | To be validated |
| | 2006-09-21 |
| exon 5 | c.421dupG | p.(Ala141Glyfs*46) | A141fs (dupG) | Not classified | To be validated |
| | 2003-08-04 |
| exon 5 | c.421del | p.(Ala141Argfs*18) | A141fs (delG) | Pathogenic | VALIDATED |
| | 2006-07-04 |
| exon 5 | c.425G>A | p.(Gly142Asp) | G142D | Unsolved | UNSOLVED |
| | 2013-08-16 |
| exon 5 | c.431G>T | p.(Gly144Val) | G144V | Likely pathogenic | PROVISIONAL |
| | 2013-05-06 |
| exon 5 | c.437G>A | p.(Ser146Asn) | S146N | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 5 | c.439G>A | p.(Ala147Thr) | A147T | Likely pathogenic | VALIDATED |
| | 2006-09-21 |
| exon 5 | c.441C>T | p.(Ala147Ala) | A147A | Likely benign | VALIDATED |
| | 2017-09-05 |
| exon 5 | c.442G>A | p.(Ala148Thr) | A148T | Likely pathogenic | VALIDATED |
| | 2002-02-05 |
| exon 5 | c.442_447dup | p.(Ala148_Tyr149dup) | 447_448insGCCTAC | Not classified | To be validated |
| | 2019-07-11 |
| exon 5 | c.443C>T | p.(Ala148Val) | A148V | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
| exon 5 | c.447C>G | p.(Tyr149*) | Y149X | Pathogenic | VALIDATED |
| | 2002-02-05 |
| exon 5 | c.449C>T | p.(Ser150Leu) | S150L | Likely pathogenic | VALIDATED |
| | 2011-09-01 |
| exon 5 | c.450_453del | p.(Cys152Trpfs*6) | C152fs | Likely pathogenic | VALIDATED |
| | 2012-07-03 |
| exon 5 | c.450G>A | p.(Ser150=) | S150S | Likely benign | VALIDATED |
| | 2013-10-15 |
| exon 5 | c.451G>A | p.(Val151Met) | V151M | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 5 | c.455G>A | p.(Cys152Tyr) | C152Y | Not classified | To be validated |
| | 2018-04-30 |
| exon 5 | c.475_478del | p.(Thr159Cysfs*9) | T159fs | Pathogenic | VALIDATED |
| | 2011-03-04 |
| exon 5 | c.481_482del | p.(Cys161Argfs*25) | C161RfsX25 | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
| exon 5 | c.481T>C | p.(Cys161Arg) | C161R | Not classified | To be validated |
| | 2017-11-20 |
| exon 5 | c.489_490dup | p.(Ile164Argfs*6) | I164fs | Likely pathogenic | To be validated |
| | 2019-07-16 |
| exon 5 | c.498C>A | p.(Asn166Lys) | N166K | Likely pathogenic | To be validated |
| | 2019-08-21 |
| exon 5 | c.494C>T | p.(Pro165Leu) | P165L | Likely pathogenic | VALIDATED |
| | 2002-02-05 |
| exon 5 | c.500C>T | p.(Pro167leu ) | P167L | Likely pathogenic | VALIDATED |
| | 2017-08-18 |
| exon 5 | c.503_512delinsAC | p.(Leu168Hisfs*16) | L168fs | Not classified | To be validated |
| | 2006-09-21 |
| exon 5 | c.510C>T | p.(Asp170=) | D170D | Benign | VALIDATED |
| | 2002-02-05 |
| exon 5 | c.511G>A | p.(Gly171Arg) | G171R | Pathogenic | VALIDATED |
| | 2004-12-16 |
| exon 5 | c.516T>C | p.(Asp172=) | D172D | Likely benign | VALIDATED |
| | 2003-07-22 |
| exon 6 | c.538G>A | p.(Glu180Lys) | E180K | Uncertain significance (VUS) | To be validated |
| | 2019-05-21 |
| exon 6 | c.564G>A | p.(Trp188*) | W188X | Pathogenic | VALIDATED |
| | 2003-02-25 |
| exon 6 | c.566C>T | p.(Ala189Val) | A189V | Not classified | To be validated |
| | 2019-01-03 |
| exon 6 | c.571del | p.(Gln191Lysfs*5) | Q190fs | Pathogenic | VALIDATED |
| | 2006-09-21 |
| exon 6 | c.575G>A | p.(Gly192Glu) | G192E | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 6 | c.591C>T | p.(His197His) | H197H | Likely benign | VALIDATED |
| | 2003-10-15 |
| exon 6 | c.602C>T | p.(Ser201Phe) | S201F | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 6 | c.604G>A | p.(Gly202Arg) | G202R | Pathogenic | VALIDATED |
| | 2002-02-05 |
| exon 6 | c.605G>A | p.(Gly202Glu) | G202Q | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 6 | c.607dup | p.(Val203Glyfs*74) | V203fs | Not classified | To be validated |
| | 2006-09-21 |
| exon 6 | c.608T>C | p.(Val203Ala) | V203A | Pathogenic | VALIDATED |
| | 2004-03-18 |
| exon 6 | c.612C>A | p.(Asp204Glu) | D204E | Uncertain significance (VUS) | VALIDATED |
| | 2012-02-20 |
| exon 6 | c.613A>G | p.(Asn205Asp) | N205D | Likely pathogenic | VALIDATED |
| | 2006-09-21 |
| exon 6 | c.625A>G | p.(Thr209Ala) | T209A | Likely pathogenic | VALIDATED |
| | 2002-02-05 |
| intron 6 | c.632-71A>G | - | c.632-71A>G | Likely benign | VALIDATED |
| | 2004-12-16 |
| intron 6 | c.632-18A>G | - | c.632-18A>G | Likely benign | VALIDATED |
| | 2004-12-16 |
| exon 7 | c.632G>C | p.(Gly211Ala) | G211A | Likely pathogenic | VALIDATED |
| | 2003-09-12 |
| exon 7 | c.632G>A | p.(Gly211Glu) | G211E | Pathogenic | VALIDATED |
| | 2004-12-16 |
| exon 7 | c.634G>A | p.(Gly212Arg) | G212R | Likely pathogenic | VALIDATED |
| | 2011-03-10 |
| exon 7 | c.635_637del | p.(Gly212del) | G211del | Pathogenic | VALIDATED |
| | 2011-05-26 |
| exon 7 | c.643C>T | p.(Arg215*) | R215X | Pathogenic | VALIDATED |
| | 2013-02-05 |
| exon 7 | c.643C>G | p.(Arg215Gly) | R215G | Uncertain significance (VUS) | PROVISIONAL |
| | 2014-03-10 |
| exon 7 | c.644G>A | p.(Arg215Gln) | R215Q | Likely pathogenic | VALIDATED |
| | 2002-02-05 |
| exon 7 | c.650A>C | p.(His217Pro) | H217P | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 7 | c.652C>T | p.(Gln218*) | Q218X | Pathogenic | VALIDATED |
| | 2011-03-04 |
| exon 7 | c.655G>T | p.(Gly219Trp) | G219W | Likely pathogenic | VALIDATED |
| | 2011-03-10 |
| exon 7 | c.671del | p.(Leu224*) | L224* | Likely pathogenic | To be validated |
| | 2020-01-28 |
| intron 7 | c.678-78del | - | c.678-78delT | Likely benign | PROVISIONAL |
| | 2014-03-03 |
| intron 7 | c.678-1G>C | p.? | del Exon 8 | Likely pathogenic | VALIDATED |
| | 2006-09-21 |
| intron 7 | c.678-1G>A | p.? or p.(Arg226fs) | c.678-1G>A | Likely pathogenic | VALIDATED |
| | 2013-08-16 |
| exon 8 | c.683C>T | p.(Pro228Leu) | P228L | Likely pathogenic | VALIDATED |
| | 2011-09-01 |
| exon 8 | c.684A>G | p.(Pro228=) | P228P | Likely benign | VALIDATED |
| | 2006-09-21 |
| exon 8 | c.689T>C | p.(Leu230Pro) | L230P | Likely pathogenic | PROVISIONAL |
| | 2010-09-29 |
| exon 8 | c.701T>C | p.(Leu234Pro) | L234P | Pathogenic | VALIDATED |
| | 2006-09-21 |
| exon 8 | c.709A>T | p.(Thr237Ser) | T237S | Pathogenic | VALIDATED |
| | 2006-09-21 |
| exon 8 | c.710C>A | p.(Thr237Asn) | T237N | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 8 | c.721C>T | p.(Arg241Cys) | R241C | Pathogenic | VALIDATED |
| | 2008-04-30 |
| exon 8 | c.728C>T | p.(Thr243Ile) | T243I | Likely pathogenic | VALIDATED |
| | 2003-07-21 |
| exon 8 | c.737T>C | p.(Leu246Pro) | L246P | Likely pathogenic | VALIDATED |
| | 2003-04-04 |
| exon 8 | c.737del | p.(Val247Trpfs*19) | V247fs | Pathogenic | To be validated |
| | 2019-06-20 |
| exon 8 | c.748G>A | p.(Val250Ile) | V250I | Likely pathogenic | VALIDATED |
| | 2004-12-16 |
| exon 8 | c.748G>T | p.(Val250Phe ) | V250F | Unsolved | UNSOLVED |
| | 2017-08-18 |
| exon 8 | c.755A>G | p.(Asn252Ser) | N252S | Uncertain significance (VUS) | PROVISIONAL |
| | 2013-08-16 |
| exon 8 | c.764T>C | p.(Leu255Pro) | L255P | Uncertain significance (VUS) | VALIDATED |
| | 2013-02-05 |
| intron 8 | c.768+23G>C | - | c.768+23G>C | Likely benign | VALIDATED |
| | 2004-12-16 |
| intron 8 | c.769-103C>T | - | c.769-103C>T | Likely benign | VALIDATED |
| | 2005-12-29 |
| intron 8 | c.769-97G>A | - | c.769-97 | Likely benign | VALIDATED |
| | 2012-12-21 |
| intron 8 | c.769-38C>T | - | c.769-38 C>T | Likely benign | VALIDATED |
| | 2003-09-18 |
| intron 8 | c.769-7T>G | - | c.769-7T>G | Likely benign | VALIDATED |
| | 2004-03-08 |
| intron 8 | c.769-7_769-6dup | - | c.769-7_769-6dupT | Likely benign | PROVISIONAL |
| | 2005-01-26 |
| exon 9 | c.780C>A | p.(Ile260=) | I260I | Likely benign | VALIDATED |
| | 2003-07-22 |
| exon 9 | c.782T>C | p.(Val261Ala) | V261A | Likely pathogenic | PROVISIONAL |
| | 2011-12-07 |
| exon 9 | c.784G>C | p.(Ala262Pro) | A262P | Unsolved | UNSOLVED |
| | 2011-03-17 |
| exon 9 | c.789C>A | p.(Pro263=) | P263P | Likely benign | VALIDATED |
| | 2013-08-27 |
| exon 9 | c.790C>T | p.(Leu264Phe) | L264F | Likely pathogenic | PROVISIONAL |
| | 2003-07-21 |
| exon 9 | c.790del | p.(Leu264Serfs*2) | c.790del | Pathogenic | VALIDATED |
| | 2013-02-05 |
| exon 9 | c.794T>C | p.(Leu265Pro) | L265P | Pathogenic | VALIDATED |
| | 2003-07-21 |
| exon 9 | c.794T>G | p.(Leu265Arg) | L265R | Pathogenic | VALIDATED |
| | 2004-10-05 |
| exon 9 | c.803T>C | p.(Ile268Thr) | I268T | Pathogenic | VALIDATED |
| | 2002-02-05 |
| exon 9 | c.805G>C | p.(Asp269His) | D269H | Uncertain significance (VUS) | VALIDATED |
| | 2012-01-30 |
| exon 9 | c.814T>C | p.(Ser272Pro) | S272P | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 9 | c.815C>T | p.(Ser272Phe) | S272F | Likely pathogenic | VALIDATED |
| | 2003-07-21 |
| exon 9 | c.815_816delinsTT | p.(Ser272Phe) | S272Fdelins | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 9 | c.829C>T | p.(Arg277Cys) | R277C | Pathogenic | VALIDATED |
| | 2003-07-22 |
| exon 9 | c.829C>G | p.(Arg277Gly) | R277G | Likely pathogenic | VALIDATED |
| | 2014-03-31 |
| exon 9 | c.830G>A | p.(Arg277His) | R277H | Likely pathogenic | VALIDATED |
| | 2006-01-04 |
| exon 9 | c.831C>T | p.(Arg277=) | R277R | Benign | VALIDATED |
| | 2006-04-27 |
| exon 9 | c.833T>C | p.(Val278Ala) | V278A | Likely pathogenic | PROVISIONAL |
| | 2012-02-20 |
| exon 9 | c.836T>C | p.(Leu279Pro) | L279P | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
| exon 9 | c.845T>C | p.(Met282Thr) | M282T | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 9 | c.850del | p.(Glu284Lysfs*17) | E284Kfs*17 | Pathogenic | VALIDATED |
| | 2013-08-30 |
| exon 9 | c.852dup | p.(Ala285Serfs*15) | c.853insA | Not classified | To be validated |
| | 2013-07-11 |
| exon 9 | c.857C>T | p.(Pro286Leu) | P286L | Uncertain significance (VUS) | VALIDATED |
| | 2008-02-26 |
| exon 9 | c.863C>T | p.(Pro288Leu) | P288L | Uncertain significance (VUS) | PROVISIONAL |
| | 2006-05-02 |
| exon 9 | c.870G>T | p.(Gln290His) | Q290H | Uncertain significance (VUS) | To be validated |
| | 2019-11-08 |
| exon 9 | c.871T>G | p.(Tyr291Asp) | Y291D | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
| exon 9 | c.877G>A | p.(Val293Met) | V293M | Uncertain significance (VUS) | VALIDATED |
| | 2006-05-02 |
| intron 9 | c.885+24G>A | - | c.885+24G>A | Likely benign | VALIDATED |
| | 2003-07-25 |
| intron 9 | c.885+117C>A | - | c.885+117C>A | Likely benign | VALIDATED |
| | 2017-09-05 |
| intron 9 | c.886-1G>A | - | c.886-1G>A | Likely pathogenic | VALIDATED |
| | 2011-09-01 |
| exon 10 | c.(?_886)_(1191_?)del | p.? | del_exons_10-11 | Not classified | To be validated |
| | 2020-01-29 |
| exon 10 | c.887A>G | p.(Glu296Gly) | E296G | Not classified | To be validated |
| | 2020-01-28 |
| exon 10 | c.893T>C | p.(Ile298Thr) | I298T | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
| exon 10 | c.895G>A | p.(Asp299Asn) | D299N | Not classified | To be validated |
| | 2018-04-03 |
| exon 10 | c.902A>C | p.(Asn301Thr) | N301T | Pathogenic | VALIDATED |
| | 2003-07-22 |
| exon 10 | c.902del | p.(Asn301Thrfs*5) | N301Tfs* | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 10 | c.904C>T | p.(Gln302*) | Q302* | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 10 | c.924C>T | p.(Leu308=) | L308L | Likely benign | VALIDATED |
| | 2004-12-16 |
| exon 10 | c.925G>A | p.(Gly309Ser) | G309S | Pathogenic | VALIDATED |
| | 2002-02-05 |
| exon 10 | c.926G>T | p.(Gly309Val) | G309V | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 10 | c.928G>A | p.(Val310Met) | V310M | Pathogenic | VALIDATED |
| | 2003-07-22 |
| exon 10 | c.928G>T | p.(Val310Leu) | V310L | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
| exon 10 | c.931G>C | p.(Gly311Arg) | G311R | Likely pathogenic | VALIDATED |
| | 2014-04-17 |
| exon 10 | c.935A>G | p.(His312Arg) | H311R | Unsolved | UNSOLVED |
| | 2013-02-05 |
| exon 10 | c.942T>C | p.(Ser314=) | S314S | Likely benign | VALIDATED |
| | 2013-08-16 |
| exon 10 | c.943C>G | p.(Leu315Val) | L315V | Uncertain significance (VUS) | VALIDATED |
| | 2013-02-05 |
| exon 10 | c.943_944del | p.(Leu315Glyfs*51) | L315Gfs*51 | Likely pathogenic | VALIDATED |
| | 2013-08-16 |
| exon 10 | c.956G>C | p.(Cys319Ser) | C319S | Unsolved | UNSOLVED |
| | 2011-05-26 |
| exon 10 | c.962T>C | p.(Val321Ala) | V321A | Likely pathogenic | PROVISIONAL |
| | 2011-03-04 |
| exon 10 | c.965C>G | p.(Thr322Ser) | T322S | Likely pathogenic | VALIDATED |
| | 2006-09-21 |
| exon 10 | c.965C>A | p.(Thr322Asn) | T322N | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 10 | c.975C>T | p.(Arg325=) | R325R | Likely benign | VALIDATED |
| | 2013-08-16 |
| exon 10 | c.976G>A | p.(Gly326Arg) | G326R | Likely pathogenic | PROVISIONAL |
| | 2002-02-06 |
| exon 10 | c.986G>A | p.(Ser329Asn) | S329N | Likely pathogenic | VALIDATED |
| | 2005-10-06 |
| exon 10 | c.987C>A | p.(Ser329Arg) | S329R | Likely pathogenic | PROVISIONAL |
| | 2003-09-23 |
| exon 10 | c.999C>T | p.(Gly333=) | G333G | Likely benign | VALIDATED |
| | 2013-08-16 |
| exon 10 | c.1000G>A | p.(Ala334Thr) | A334T | Pathogenic | VALIDATED |
| | 2003-07-21 |
| exon 10 | c.1003G>A | p.(Gly335Ser) | G335S | Not classified | To be validated |
| | 2020-04-02 |
| exon 10 | c.1004G>A | p.(Gly335Asp) | G335D | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
| exon 10 | c.1004G>C | p.(Gly335Ala) | G335A | Unsolved | UNSOLVED |
| | 2013-02-05 |
| exon 10 | c.1005C>T | p.(Gly335=) | G335G | Likely benign | VALIDATED |
| | 2006-05-02 |
| exon 10 | c.1006G>A | p.(Gly336Ser) | G336S | Likely pathogenic | VALIDATED |
| | 2006-05-02 |
| exon 10 | c.1012G>A | p.(Gly338Ser) | G338S | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 10 | c.1013G>A | p.(Gly338Asp) | G338D | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
| exon 10 | c.1016G>C | p.(Cys339Ser) | C339S | Likely pathogenic | To be validated |
| | 2019-08-02 |
| exon 10 | c.1024A>G | p.(Thr342Ala) | T342A | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 10 | c.1025C>T | p.(Thr342Ile) | T342I | Likely pathogenic | To be validated |
| | 2019-02-08 |
| exon 10 | c.1028T>C | p.(Leu343Pro) | L343P | Likely pathogenic | VALIDATED |
| | 2013-09-25 |
| intron 10 | c.1039+1G>T | p.(Glu296Glyfs*14) | E296fs | Likely pathogenic | VALIDATED |
| | 2006-08-02 |
| intron 10 | c.1039+1G>A | p.(Gly347AspfsTer55) | InsI10 | Likely pathogenic | To be validated |
| | 2020-04-02 |
| intron 10 | c.1039+2T>C | p.(Leu348Ilefs*17) | L348IfsX17 | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
| intron 10 | c.1039+7C>T | - | c.1039+7C>T | Likely benign | VALIDATED |
| | 2017-09-05 |
| intron 10 | c.1040-1G>A | - | c.1040-1G>A | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
| exon 11 | c.1058_1071del | p.(Pro353Leufs*3) | c.1057delTGGAGGCCACGAAG | Not classified | To be validated |
| | 2013-07-11 |
| exon 11 | c.1058_1060del | p.(Val353del) | V353del | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 11 | c.1067C>T | p.(Thr356Met) | T356M | Uncertain significance (VUS) | VALIDATED |
| | 2004-12-16 |
| exon 11 | c.1067C>G | p.(Thr356Arg) | T356R | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 11 | c.1071del | p.(Lys357Asnfs*4) | L357fs | Likely pathogenic | VALIDATED |
| | 2012-01-30 |
| exon 11 | c.1073A>C | p.(Gln358Pro) | Q358P | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 11 | c.1085G>T | p.(Ser362Ile) | S362I | Likely pathogenic | VALIDATED |
| | 2012-10-02 |
| exon 11 | c.1093T>A | p.(Phe365Ile) | F365I | Likely pathogenic | To be validated |
| | 2020-01-28 |
| exon 11 | c.1094T>C | p.(Phe365Ser) | F364S | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
| exon 11 | c.1095_1098del | p.(Asp366Alafs*110) | D366fs | Likely pathogenic | VALIDATED |
| | 2006-09-21 |
| exon 11 | c.1100G>C | p.(Cys367Ser) | C367S | Uncertain significance (VUS) | VALIDATED |
| | 2006-05-02 |
| exon 11 | c.1116C>G | p.(Ile372Met) | I372M | Uncertain significance (VUS) | VALIDATED |
| | 2013-08-30 |
| exon 11 | c.1126G>A | p.(Gly376Ser) | G376S | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
| exon 11 | c.1127G>T | p.(Gly376Val) | G376V | Likely pathogenic | VALIDATED |
| | 2004-12-16 |
| exon 11 | c.1129G>A | p.(Val377Ile) | V377I | Pathogenic | VALIDATED |
| | 2002-02-05 |
| exon 11 | c.1132T>C | p.(Ser378Pro) | S378P | Likely pathogenic | PROVISIONAL |
| | 2005-03-07 |
| exon 11 | c.1136T>A | p.(Ile379Asn) | I379N | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
| exon 11 | c.1139A>G | p.(His380Arg) | H380R | Likely pathogenic | VALIDATED |
| | 2003-08-29 |
| exon 11 | c.1144G>C | p.(Ala382Pro) | A382P | Uncertain significance (VUS) | PROVISIONAL |
| | 2012-12-03 |
| exon 11 | c.1151C>T | p.(Ser384Phe) | S384F | Uncertain significance (VUS) | PROVISIONAL |
| | 2009-10-16 |
| exon 11 | c.1156G>A | p.(Asp386Asn) | D386N | Uncertain significance (VUS) | VALIDATED |
| | 2008-02-26 |
| exon 11 | c.1162C>T | p.(Arg388*) | R388X | Pathogenic | VALIDATED |
| | 2006-05-10 |
| exon 11 | c.1168C>T | p.(Gln390*) | Q390* | Not classified | To be validated |
| | 2018-04-03 |
| exon 11 | c.1169A>C | p.(Gln390Pro) | Q390P | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
| exon 11 | c.1189T>C | p.(*397Argext*?) | Stop397R | Pathogenic | VALIDATED |
| | 2012-06-13 |
| 3UT | c.*11C>T | - | c.1202C>T | Uncertain significance (VUS) | VALIDATED |
| | 2004-12-16 |
| 3UT | c.*35C>T | - | c.*35C>T | Likely benign | VALIDATED |
| | 2017-09-05 |
| 3UT | c.*58dupG | - | 1245-1246INSG | Not classified | To be validated |
| | 2002-05-27 |
| 3UT | c.*571G>A | p.(=) | *571G>A | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 |
