|
HGVS sequence name |
HGVS protein name |
Classification * |
Status * |
Simple variant |
Complex alleles |
|
5 flanking | c.-464_-463delGCinsTT | - | Not classified | Not validated |
| | 2005-12-29 |
5 flanking | c.-325A>T | - | Not classified | Not validated |
| | 2006-04-05 |
5 flanking | c.-228G>A | - | Not classified | Not validated |
| | 2005-12-29 |
5 flanking | c.-207T>A | - | Not classified | Not validated |
| | 2006-04-13 |
5UT | c.-14_78del | p.Met1_Lys26del | Likely pathogenic | VALIDATED |
| | 2002-05-27 |
exon 2 | c.1A>C | p.0 | Pathogenic | VALIDATED |
| | 2012-01-30 |
exon 2 | c.3G>C | p.0 | Pathogenic | VALIDATED |
| | 2013-02-05 |
exon 2 | c.14T>C | p.Val5Ala | Uncertain significance (VOUS) | PROVISIONAL |
| | 2010-08-26 |
exon 2 | c.16_34del | p.Leu6Glyfs*16 | Pathogenic | VALIDATED |
| | 2004-12-16 |
exon 2 | c.22G>C | p.Val8Leu | Likely pathogenic | VALIDATED |
| | 2003-10-13 |
exon 2 | c.22G>A | p.Val8Met | Likely pathogenic | VALIDATED |
| | 2013-08-16 |
exon 2 | c.23T>A | p.Val8Glu | Likely pathogenic | PROVISIONAL |
| | 2013-05-06 |
exon 2 | c.29C>T | p.Ala10Val | Likely pathogenic | VALIDATED |
| | 2012-01-30 |
exon 2 | c.34G>C | p.Gly12Arg | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
exon 2 | c.37A>T | p.Lys13* | Pathogenic | VALIDATED |
| | 2002-02-05 |
exon 2 | c.37A>C | p.Lys13Gln | Likely pathogenic | VALIDATED |
| | 2017-08-16 |
exon 2 | c.38_39insTCTG | p.Lys13Asnfs*68 | Not classified | Not validated |
| | 2013-08-30 |
exon 2 | c.52G>A | p.Gly18Arg | Likely pathogenic | VALIDATED |
| | 2007-08-22 |
exon 2 | c.55G>A | p.Glu19Lys | Unsolved | UNSOLVED |
| | 2014-04-01 |
exon 2 | c.58C>A | p.His20Asn | Pathogenic | VALIDATED |
| | 2002-02-05 |
exon 2 | c.59A>C | p.His20Pro | Pathogenic | VALIDATED |
| | 2002-02-05 |
exon 2 | c.60T>A | p.His20Gln | Pathogenic | VALIDATED |
| | 2004-12-16 |
exon 2 | c.62C>T | p.Ala21Val | Likely pathogenic | VALIDATED |
| | 2012-10-12 |
exon 2 | c.64G>A | p.Val22Met | Unsolved | UNSOLVED |
| | 2013-08-16 |
exon 2 | c.71A>C | p.His24Pro | Pathogenic | VALIDATED |
| | 2014-09-26 |
exon 2 | c.72dupT | p.Gly25Trpfs*55 | Pathogenic | VALIDATED |
| | 2003-08-04 |
exon 2 | c.75C>T | p.Lys26Serfs*52 | Likely pathogenic | VALIDATED |
| | 2003-12-15 |
intron 2 | c.78+2del | - | Likely pathogenic | VALIDATED |
| | 2007-07-03 |
intron 2 | c.78+3A>G | - | Uncertain significance (VOUS) | PROVISIONAL |
| | 2010-07-23 |
intron 2 | c.78+10C>T | - | Likely benign | VALIDATED |
| | 2012-12-07 |
intron 2 | c.78+61A>G | - | Likely benign | VALIDATED |
| | 2004-12-16 |
intron 2 | c.78+177G>A | - | Likely benign | VALIDATED |
| | 2004-12-16 |
intron 2 | c.79-62G>A | - | Likely benign | VALIDATED |
| | 2004-12-16 |
exon 3 | c.79_226del | p.Val27Serfs*16 | Pathogenic | VALIDATED |
| | 2003-09-23 |
exon 3 | c.82G>A | p.Ala28Thr | Pathogenic | VALIDATED |
| | 2012-10-02 |
exon 3 | c.86del | p.Leu29Argfs*5 | Pathogenic | VALIDATED |
| | 2008-02-26 |
exon 3 | c.104T>C | p.Leu35Ser | Pathogenic | VALIDATED |
| | 2003-07-21 |
exon 3 | c.107G>C | p.Arg36Thr | Likely pathogenic | PROVISIONAL |
| | 2011-03-04 |
exon 3 | c.116T>C | p.Leu39Pro | Pathogenic | VALIDATED |
| | 2002-02-05 |
exon 3 | c.118C>T | p.Arg40Trp | Likely pathogenic | VALIDATED |
| | 2010-05-18 |
exon 3 | c.119G>T | p.Arg40Leu | Unsolved | UNSOLVED |
| | 2013-05-06 |
exon 3 | c.122T>C | p.Leu41Pro | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
exon 3 | c.129_130del | p.His44Glnfs*35 | Pathogenic | VALIDATED |
| | 2006-09-21 |
exon 3 | c.151C>T | p.Leu51Phe | Likely pathogenic | PROVISIONAL |
| | 2011-03-04 |
exon 3 | c.155G>A | p.Ser52Asn | Benign | VALIDATED |
| | 2002-02-05 |
exon 3 | c.166A>G | p.Ile56Val | Uncertain significance (VOUS) | VALIDATED |
| | 2013-08-16 |
exon 3 | c.185G>A | p.Trp62* | Pathogenic | VALIDATED |
| | 2002-02-05 |
exon 3 | c.186G>A | p.Trp62* | Pathogenic | VALIDATED |
| | 2014-05-19 |
exon 3 | c.205T>A | p.Ser69Thr | Unsolved | UNSOLVED |
| | 2014-07-29 |
intron 3 | c.227-3C>G | - | Unsolved | UNSOLVED |
| | 2008-04-30 |
intron 3 | c.227-1G>A | - | Likely pathogenic | VALIDATED |
| | 2012-06-12 |
exon 4 | c.238G>A | p.Val80Ile | Likely benign | VALIDATED |
| | 2003-10-08 |
exon 4 | c.277_283del | p.Glu93Glnfs*38 | Pathogenic | VALIDATED |
| | 2006-09-21 |
exon 4 | c.289del | p.Leu97Cysfs*36 | Pathogenic | VALIDATED |
| | 2012-08-30 |
exon 4 | c.340_344del | p.Tyr114Ilefs*71 | Pathogenic | VALIDATED |
| | 2006-09-21 |
exon 4 | c.346T>C | p.Tyr116His | Likely pathogenic | VALIDATED |
| | 2009-09-10 |
exon 4 | c.350T>C | p.Leu117Pro | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
exon 4 | c.357C>G | p.Ile119Met | Likely pathogenic | VALIDATED |
| | 2004-12-16 |
exon 4 | c.370A>T | p.Arg124Trp | Likely pathogenic | VALIDATED |
| | 2013-08-16 |
intron 4 | c.371+8C>T | - | Likely benign | VALIDATED |
| | 2004-12-16 |
intron 4 | c.371+49A>G | - | Likely benign | VALIDATED |
| | 2013-10-01 |
intron 4 | c.372-6T>C | - | Unsolved | UNSOLVED |
| | 2012-10-12 |
intron 4 | c.372-3C>T | - | Uncertain significance (VOUS) | VALIDATED |
| | 2006-05-02 |
exon 5 | c.372_527del | p.Ala125_Arg176del | Pathogenic | VALIDATED |
| | 2002-05-27 |
exon 5 | c.380C>T | p.Pro127Leu | Uncertain significance (VOUS) | VALIDATED |
| | 2014-02-24 |
exon 5 | c.394G>A | p.Val132Ile | Pathogenic | VALIDATED |
| | 2004-12-16 |
exon 5 | c.395del | p.Val132Glufs*27 | Likely pathogenic | VALIDATED |
| | 2013-07-11 |
exon 5 | c.401G>A | p.Trp134* | Pathogenic | VALIDATED |
| | 2011-03-04 |
exon 5 | c.404C>T | p.Ser135Leu | Likely pathogenic | VALIDATED |
| | 2002-02-05 |
exon 5 | c.405G>A | p.(=) | Benign | VALIDATED |
| | 2004-12-16 |
exon 5 | c.417dupC | p.Gly140Argfs*47 | Not classified | Not validated |
| | 2006-09-21 |
exon 5 | c.421dupG | p.Ala141Glyfs*46 | Not classified | Not validated |
| | 2003-08-04 |
exon 5 | c.421del | p.Ala141Argfs*18 | Pathogenic | VALIDATED |
| | 2006-07-04 |
exon 5 | c.425G>A | p.Gly142Asp | Unsolved | UNSOLVED |
| | 2013-08-16 |
exon 5 | c.431G>T | p.Gly144Val | Likely pathogenic | PROVISIONAL |
| | 2013-05-06 |
exon 5 | c.439G>A | p.Ala147Thr | Likely pathogenic | VALIDATED |
| | 2006-09-21 |
exon 5 | c.441C>T | p.Ala147Ala | Likely benign | VALIDATED |
| | 2017-09-05 |
exon 5 | c.442G>A | p.Ala148Thr | Likely pathogenic | VALIDATED |
| | 2002-02-05 |
exon 5 | c.443C>T | p.Ala148Val | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
exon 5 | c.447C>G | p.Tyr149* | Pathogenic | VALIDATED |
| | 2002-02-05 |
exon 5 | c.449C>T | p.Ser150Leu | Likely pathogenic | VALIDATED |
| | 2011-09-01 |
exon 5 | c.450_453del | p.Cys152Trpfs*6 | Likely pathogenic | VALIDATED |
| | 2012-07-03 |
exon 5 | c.450G>A | p.(=) | Likely benign | VALIDATED |
| | 2013-10-15 |
exon 5 | c.455G>A | p.Cys152Tyr | Not classified | Not validated |
| | 2018-04-30 |
exon 5 | c.475_478del | p.Thr159Cysfs*9 | Pathogenic | VALIDATED |
| | 2011-03-04 |
exon 5 | c.481_482del | p.Cys161Argfs*25 | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
exon 5 | c.481T>C | p.Cys161Arg | Not classified | Not validated |
| | 2017-11-20 |
exon 5 | c.494C>T | p.Pro165Leu | Likely pathogenic | VALIDATED |
| | 2002-02-05 |
exon 5 | c.500C>T | p.Pro167leu | Likely pathogenic | VALIDATED |
| | 2017-08-18 |
exon 5 | c.503_512delinsAC | p.Leu168Hisfs*16 | Not classified | Not validated |
| | 2006-09-21 |
exon 5 | c.510C>T | p.(=) | Benign | VALIDATED |
| | 2002-02-05 |
exon 5 | c.511G>A | p.Gly171Arg | Pathogenic | VALIDATED |
| | 2004-12-16 |
exon 5 | c.516T>C | p.(=) | Likely benign | VALIDATED |
| | 2003-07-22 |
exon 6 | c.564G>A | p.Trp188* | Pathogenic | VALIDATED |
| | 2003-02-25 |
exon 6 | c.566C>T | p.Ala189Val | Not classified | Not validated |
| | 2019-01-03 |
exon 6 | c.571del | p.Gln191Lysfs*5 | Pathogenic | VALIDATED |
| | 2006-09-21 |
exon 6 | c.591C>T | p.His197His | Likely benign | VALIDATED |
| | 2003-10-15 |
exon 6 | c.604G>A | p.Gly202Arg | Pathogenic | VALIDATED |
| | 2002-02-05 |
exon 6 | c.606_607insG | p.Val203Glyfs*74 | Not classified | Not validated |
| | 2006-09-21 |
exon 6 | c.608T>C | p.Val203Ala | Pathogenic | VALIDATED |
| | 2004-03-18 |
exon 6 | c.612C>A | p.Asp204Glu | Uncertain significance (VOUS) | VALIDATED |
| | 2012-02-20 |
exon 6 | c.613A>G | p.Asn205Asp | Likely pathogenic | VALIDATED |
| | 2006-09-21 |
exon 6 | c.625A>G | p.Thr209Ala | Likely pathogenic | VALIDATED |
| | 2002-02-05 |
intron 6 | c.632-71A>G | - | Likely benign | VALIDATED |
| | 2004-12-16 |
intron 6 | c.632-18A>G | - | Likely benign | VALIDATED |
| | 2004-12-16 |
exon 7 | c.632G>C | p.Gly211Ala | Likely pathogenic | VALIDATED |
| | 2003-09-12 |
exon 7 | c.632G>A | p.Gly211Glu | Pathogenic | VALIDATED |
| | 2004-12-16 |
exon 7 | c.634G>A | p.Gly212Arg | Likely pathogenic | VALIDATED |
| | 2011-03-10 |
exon 7 | c.635_637del | p.Gly212del | Pathogenic | VALIDATED |
| | 2011-05-26 |
exon 7 | c.643C>T | p.Arg215* | Pathogenic | VALIDATED |
| | 2013-02-05 |
exon 7 | c.643C>G | p.Arg215Gly | Uncertain significance (VOUS) | PROVISIONAL |
| | 2014-03-10 |
exon 7 | c.644G>A | p.Arg215Gln | Likely pathogenic | VALIDATED |
| | 2002-02-05 |
exon 7 | c.652C>T | p.Gln218* | Pathogenic | VALIDATED |
| | 2011-03-04 |
exon 7 | c.655G>T | p.Gly219Trp | Likely pathogenic | VALIDATED |
| | 2011-03-10 |
intron 7 | c.678-78del | - | Likely benign | PROVISIONAL |
| | 2014-03-03 |
intron 7 | c.678-1G>C | p.? | Likely pathogenic | VALIDATED |
| | 2006-09-21 |
intron 7 | c.678-1G>A | p.? or p.(Arg226fs) | Likely pathogenic | VALIDATED |
| | 2013-08-16 |
exon 8 | c.683C>T | p.Pro228Leu | Likely pathogenic | VALIDATED |
| | 2011-09-01 |
exon 8 | c.684A>G | p.(=) | Likely benign | VALIDATED |
| | 2006-09-21 |
exon 8 | c.689T>C | p.Leu230Pro | Likely pathogenic | PROVISIONAL |
| | 2010-09-29 |
exon 8 | c.701T>C | p.Leu234Pro | Pathogenic | VALIDATED |
| | 2006-09-21 |
exon 8 | c.709A>T | p.Thr237Ser | Pathogenic | VALIDATED |
| | 2006-09-21 |
exon 8 | c.721C>T | p.Arg241Cys | Pathogenic | VALIDATED |
| | 2008-04-30 |
exon 8 | c.728C>T | p.Thr243Ile | Likely pathogenic | VALIDATED |
| | 2003-07-21 |
exon 8 | c.737T>C | p.Leu246Pro | Likely pathogenic | VALIDATED |
| | 2003-04-04 |
exon 8 | c.748G>A | p.Val250Ile | Likely pathogenic | VALIDATED |
| | 2004-12-16 |
exon 8 | c.748G>T | p.Val250Phe | Unsolved | UNSOLVED |
| | 2017-08-18 |
exon 8 | c.755A>G | p.Asn252Ser | Uncertain significance (VOUS) | PROVISIONAL |
| | 2013-08-16 |
exon 8 | c.764T>C | p.Leu255Pro | Uncertain significance (VOUS) | VALIDATED |
| | 2013-02-05 |
intron 8 | c.768+23G>C | - | Likely benign | VALIDATED |
| | 2004-12-16 |
intron 8 | c.769-103C>T | - | Likely benign | VALIDATED |
| | 2005-12-29 |
intron 8 | c.769-97G>A | - | Likely benign | VALIDATED |
| | 2012-12-21 |
intron 8 | c.769-38C>T | - | Likely benign | VALIDATED |
| | 2003-09-18 |
intron 8 | c.769-7T>G | - | Likely benign | VALIDATED |
| | 2004-03-08 |
intron 8 | c.769-7_769-6dup | - | Likely benign | PROVISIONAL |
| | 2005-01-26 |
exon 9 | c.780C>A | p.(=) | Likely benign | VALIDATED |
| | 2003-07-22 |
exon 9 | c.782T>C | p.Val261Ala | Likely pathogenic | PROVISIONAL |
| | 2011-12-07 |
exon 9 | c.784G>C | p.Ala262Pro | Unsolved | UNSOLVED |
| | 2011-03-17 |
exon 9 | c.789C>A | p.(=) | Likely benign | VALIDATED |
| | 2013-08-27 |
exon 9 | c.790C>T | p.Leu264Phe | Likely pathogenic | PROVISIONAL |
| | 2003-07-21 |
exon 9 | c.790del | p.Leu264Serfs*2 | Pathogenic | VALIDATED |
| | 2013-02-05 |
exon 9 | c.794T>C | p.Leu265Pro | Pathogenic | VALIDATED |
| | 2003-07-21 |
exon 9 | c.794T>G | p.Leu265Arg | Pathogenic | VALIDATED |
| | 2004-10-05 |
exon 9 | c.803T>C | p.Ile268Thr | Pathogenic | VALIDATED |
| | 2002-02-05 |
exon 9 | c.805G>C | p.Asp269His | Uncertain significance (VOUS) | VALIDATED |
| | 2012-01-30 |
exon 9 | c.815C>T | p.Ser272Phe | Likely pathogenic | VALIDATED |
| | 2003-07-21 |
exon 9 | c.829C>T | p.Arg277Cys | Pathogenic | VALIDATED |
| | 2003-07-22 |
exon 9 | c.829C>G | p.Arg277Gly | Likely pathogenic | VALIDATED |
| | 2014-03-31 |
exon 9 | c.830G>A | p.Arg277His | Likely pathogenic | VALIDATED |
| | 2006-01-04 |
exon 9 | c.831C>T | p.(=) | Benign | VALIDATED |
| | 2006-04-27 |
exon 9 | c.833T>C | p.Val278Ala | Likely pathogenic | PROVISIONAL |
| | 2012-02-20 |
exon 9 | c.836T>C | p.Leu279Pro | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
exon 9 | c.850del | p.Glu284Lysfs*17 | Pathogenic | VALIDATED |
| | 2013-08-30 |
exon 9 | c.852dup | p.Ala285Serfs*15 | Not classified | Not validated |
| | 2013-07-11 |
exon 9 | c.857C>T | p.Pro286Leu | Uncertain significance (VOUS) | VALIDATED |
| | 2008-02-26 |
exon 9 | c.863C>T | p.Pro288Leu | Uncertain significance (VOUS) | PROVISIONAL |
| | 2006-05-02 |
exon 9 | c.871T>G | p.Tyr291Asp | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
exon 9 | c.877G>A | p.Val293Met | Uncertain significance (VOUS) | VALIDATED |
| | 2006-05-02 |
intron 9 | c.885+24G>A | - | Likely benign | VALIDATED |
| | 2003-07-25 |
intron 9 | c.885+117C>A | - | Likely benign | VALIDATED |
| | 2017-09-05 |
intron 9 | c.886-1G>A | - | Likely pathogenic | VALIDATED |
| | 2011-09-01 |
exon 10 | c.893T>C | p.Ile298Thr | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
exon 10 | c.895G>A | p.Asp299Asn | Not classified | Not validated |
| | 2018-04-03 |
exon 10 | c.902A>C | p.Asn301Thr | Pathogenic | VALIDATED |
| | 2003-07-22 |
exon 10 | c.924C>T | p.(=) | Likely benign | VALIDATED |
| | 2004-12-16 |
exon 10 | c.925G>A | p.Gly309Ser | Pathogenic | VALIDATED |
| | 2002-02-05 |
exon 10 | c.928G>A | p.Val310Met | Pathogenic | VALIDATED |
| | 2003-07-22 |
exon 10 | c.928G>T | p.Val310Leu | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
exon 10 | c.931G>C | p.Gly311Arg | Likely pathogenic | VALIDATED |
| | 2014-04-17 |
exon 10 | c.935A>G | p.His312Arg | Unsolved | UNSOLVED |
| | 2013-02-05 |
exon 10 | c.942T>C | p.(=) | Likely benign | VALIDATED |
| | 2013-08-16 |
exon 10 | c.943C>G | p.Leu315Val | Uncertain significance (VOUS) | VALIDATED |
| | 2013-02-05 |
exon 10 | c.943_944del | p.Leu315Glyfs*51 | Likely pathogenic | VALIDATED |
| | 2013-08-16 |
exon 10 | c.956G>C | p.Cys319Ser | Unsolved | UNSOLVED |
| | 2011-05-26 |
exon 10 | c.962T>C | p.Val321Ala | Likely pathogenic | PROVISIONAL |
| | 2011-03-04 |
exon 10 | c.965C>G | p.Thr322Ser | Likely pathogenic | VALIDATED |
| | 2006-09-21 |
exon 10 | c.975C>T | p.(=) | Likely benign | VALIDATED |
| | 2013-08-16 |
exon 10 | c.976G>A | p.Gly326Arg | Likely pathogenic | PROVISIONAL |
| | 2002-02-06 |
exon 10 | c.986G>A | p.Ser329Asn | Likely pathogenic | VALIDATED |
| | 2005-10-06 |
exon 10 | c.987C>A | p.Ser329Arg | Likely pathogenic | PROVISIONAL |
| | 2003-09-23 |
exon 10 | c.999C>T | p.(=) | Likely benign | VALIDATED |
| | 2013-08-16 |
exon 10 | c.1000G>A | p.Ala334Thr | Pathogenic | VALIDATED |
| | 2003-07-21 |
exon 10 | c.1004G>A | p.Gly335Asp | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
exon 10 | c.1004G>C | p.Gly335Ala | Unsolved | UNSOLVED |
| | 2013-02-05 |
exon 10 | c.1005C>T | p.(=) | Likely benign | VALIDATED |
| | 2006-05-02 |
exon 10 | c.1006G>A | p.Gly336Ser | Likely pathogenic | VALIDATED |
| | 2006-05-02 |
exon 10 | c.1013G>A | p.Gly338Asp | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
exon 10 | c.1025C>T | p.(Thr342Ile) | Likely pathogenic | Not validated |
| | 2019-02-08 |
exon 10 | c.1028T>C | p.Leu343Pro | Likely pathogenic | VALIDATED |
| | 2013-09-25 |
intron 10 | c.1039+1G>T | p.Glu296Glyfs*14 | Likely pathogenic | VALIDATED |
| | 2006-08-02 |
intron 10 | c.1039+2T>C | p.Leu348Ilefs*17 | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
intron 10 | c.1039+7C>T | - | Likely benign | VALIDATED |
| | 2017-09-05 |
intron 10 | c.1040-1G>A | - | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
exon 11 | c.1058_1071del | p.Pro353Leufs*3 | Not classified | Not validated |
| | 2013-07-11 |
exon 11 | c.1067C>T | p.Thr356Met | Uncertain significance (VOUS) | VALIDATED |
| | 2004-12-16 |
exon 11 | c.1071del | p.Lys357Asnfs*4 | Likely pathogenic | VALIDATED |
| | 2012-01-30 |
exon 11 | c.1085G>T | p.Ser362Ile | Likely pathogenic | VALIDATED |
| | 2012-10-02 |
exon 11 | c.1094T>C | p.Phe365Ser | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
exon 11 | c.1095_1098del | p.Asp366Alafs*110 | Likely pathogenic | VALIDATED |
| | 2006-09-21 |
exon 11 | c.1100G>C | p.Cys367Ser | Uncertain significance (VOUS) | VALIDATED |
| | 2006-05-02 |
exon 11 | c.1116C>G | p.Ile372Met | Uncertain significance (VOUS) | VALIDATED |
| | 2013-08-30 |
exon 11 | c.1126G>A | p.Gly376Ser | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
exon 11 | c.1127G>T | p.Gly376Val | Likely pathogenic | VALIDATED |
| | 2004-12-16 |
exon 11 | c.1129G>A | p.Val377Ile | Pathogenic | VALIDATED |
| | 2002-02-05 |
exon 11 | c.1132T>C | p.Ser378Pro | Likely pathogenic | PROVISIONAL |
| | 2005-03-07 |
exon 11 | c.1136T>A | p.Ile379Asn | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
exon 11 | c.1139A>G | p.His380Arg | Likely pathogenic | VALIDATED |
| | 2003-08-29 |
exon 11 | c.1144G>C | p.Ala382Pro | Uncertain significance (VOUS) | PROVISIONAL |
| | 2012-12-03 |
exon 11 | c.1151C>T | p.Ser384Phe | Uncertain significance (VOUS) | PROVISIONAL |
| | 2009-10-16 |
exon 11 | c.1156G>A | p.Asp386Asn | Uncertain significance (VOUS) | VALIDATED |
| | 2008-02-26 |
exon 11 | c.1162C>T | p.Arg388* | Pathogenic | VALIDATED |
| | 2006-05-10 |
exon 11 | c.1168C>T | p.Gln390* | Not classified | Not validated |
| | 2018-04-03 |
exon 11 | c.1169A>C | p.Gln390Pro | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
exon 11 | c.1189T>C | p.*397Argext*34 | Pathogenic | VALIDATED |
| | 2012-06-13 |
3UT | c.*11C>T | - | Uncertain significance (VOUS) | VALIDATED |
| | 2004-12-16 |
3UT | c.*35C>T | - | Likely benign | VALIDATED |
| | 2017-09-05 |
3UT | c.*54_55insG | - | Not classified | Not validated |
| | 2002-05-27 |