| 5UT | c.-40G>T | p.? | c.-40G>T | Likely benign | VALIDATED |
| | 2017-09-05 | |
| exon 2 | c.55G>C | p.(Asp19His) | D19H | Likely pathogenic | To be validated |
| | 2018-02-01 | 2023-11-27 |
| exon 2 | c.86A>T | p.(Asp29Val) | D31V | Not classified | To be validated |
| | 2017-02-27 | 2023-11-06 |
| exon 2 | c.112C>T | p.(Pro38Ser) | P38S | Uncertain significance (VUS) | To be validated |
| | 2023-09-19 | |
| exon 2 | c.146A>G | p.(His49Arg) | H49R | Uncertain significance (VUS) | VALIDATED |
| | 2013-07-01 | 2023-11-06 |
| exon 2 | c.203T>C | p.(Met68Thr) | M68T | Likely benign | To be validated |
| | 2019-07-16 | 2023-11-06 |
| exon 2 | c.207C>T | p.(Ala69=) | A69A | Benign | VALIDATED |
| | 2013-05-06 | |
| exon 2 | c.208G>A | p.(Val70Met) | V70M | Uncertain significance (VUS) | To be validated |
| | 2019-06-09 | 2023-11-06 |
| exon 2 | c.224C>T | p.(Ala75Val) | A75V | Likely benign | To be validated |
| | 2017-08-18 | 2024-02-26 |
| exon 2 | c.262G>T | p.(Asp88Tyr) | D88Y | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2023-11-06 |
| intron 2 | c.278-196T>C | p.? | c.278-196T>C | Likely benign | VALIDATED |
| | 2007-08-14 | 2009-06-22 |
| intron 2 | c.278-45T>C | p.? | c.278-45T>C | Likely benign | VALIDATED |
| | 2008-01-21 | 2009-03-09 |
| exon 3 | c.292C>G | p.(Arg98Gly) | R98G | Uncertain significance (VUS) | To be validated |
| | 2019-11-08 | 2023-11-06 |
| exon 3 | c.293G>A | p.(Arg98His) | R98H | Uncertain significance (VUS) | To be validated |
| | 2019-06-09 | 2023-11-06 |
| exon 3 | c.348G>T | p.(Met116Ile) | M116I | Uncertain significance (VUS) | To be validated |
| | 2023-09-19 | |
| exon 3 | c.368C>T | p.(Ser123Leu) | S123L | Uncertain significance (VUS) | To be validated |
| | 2022-03-07 | 2023-11-06 |
| exon 3 | c.386A>G | p.(Lys129Arg) | K129R | Uncertain significance (VUS) | To be validated |
| | 2023-09-19 | |
| intron 3 | c.397+7G>A | p.? | c.397+7G>A | Likely benign | VALIDATED |
| | 2017-09-05 | 2017-09-05 |
| intron 3 | c.398-229T>G | p.? | c.398-229T>G | Likely benign | VALIDATED |
| | 2010-09-29 | |
| intron 3 | c.398-56C>T | p.? | c.398-56C>T | Likely benign | VALIDATED |
| | 2004-12-10 | |
| intron 3 | c.398-15C>T | p.? | c.398-15C>T | Likely benign | PROVISIONAL |
| | 2012-01-03 | |
| exon 4 | c.404G>A | p.(Arg135His) | R135H | Unsolved | UNSOLVED |
| | 2010-12-13 | 2023-11-06 |
| exon 4 | c.423C>T | p.(Tyr141=) | Y141Y | Likely benign | VALIDATED |
| | 2005-05-23 | 2009-03-09 |
| exon 4 | c.443G>A | p.(Cys148Tyr) | C148Y | Uncertain significance (VUS) | VALIDATED |
| | 2007-12-24 | 2023-11-06 |
| exon 4 | c.450A>G | p.(Glu150=) | E150E | Likely benign | VALIDATED |
| | 2013-05-06 | |
| exon 4 | c.503G>A | p.(Arg168Gln) | R168Q | Likely pathogenic | PROVISIONAL |
| | 2006-01-25 | 2023-11-06 |
| exon 4 | c.508C>A | p.(Arg170Ser) | R170S | Likely pathogenic | VALIDATED |
| | 2013-12-13 | 2023-11-06 |
| exon 4 | c.509G>A | p.(Arg170His) | R170H | Not classified | To be validated |
| | 2020-04-02 | 2023-11-06 |
| exon 4 | c.515T>C | p.(Ile172Thr) | I172T | Likely pathogenic | PROVISIONAL |
| | 2004-03-18 | 2023-11-06 |
| exon 4 | c.517A>G | p.(Lys173Glu) | K173E | Uncertain significance (VUS) | VALIDATED |
| | 2013-02-05 | 2023-11-06 |
| exon 4 | c.526C>T | p.(Arg176Trp) | R176W | Not classified | To be validated |
| | 2016-12-21 | 2023-11-06 |
| exon 4 | c.545A>T | p.(Glu182Val) | E182V | Uncertain significance (VUS) | To be validated |
| | 2023-07-25 | |
| exon 4 | c.578C>A | p.(Thr193Lys) | T193K | Uncertain significance (VUS) | VALIDATED |
| | 2011-01-04 | 2023-11-06 |
| exon 4 | c.578C>T | p.(Thr193Met) | T195M | Uncertain significance (VUS) | PROVISIONAL |
| | 2014-11-03 | 2023-11-06 |
| exon 4 | c.587G>A | p.(Ser196Asn) | S196N | Likely benign | VALIDATED |
| | 2005-12-24 | 2023-11-06 |
| exon 4 | c.592G>A | p.(Val198Met) | V198M | Uncertain significance (VUS) | VALIDATED |
| | 2002-07-12 | 2023-11-06 |
| exon 4 | c.598C>A | p.(Pro200Thr) | P200T | Not classified | To be validated |
| | 2015-03-31 | 2023-11-06 |
| exon 4 | c.611A>G | p.(Glu204Gly) | E204G | Not classified | To be validated |
| | 2019-05-21 | 2023-11-06 |
| exon 4 | c.631G>A | p.(Asp211Asn) | D211N | Uncertain significance (VUS) | VALIDATED |
| | 2013-08-30 | 2023-11-06 |
| exon 4 | c.638A>G | p.(His213Arg) | H213R | Uncertain significance (VUS) | PROVISIONAL |
| | 2014-02-21 | 2023-11-06 |
| exon 4 | c.657C>T | p.(Thr219=) | T219T | Benign | VALIDATED |
| | 2002-07-28 | |
| exon 4 | c.674C>T | p.(Ala225Val) | A225V | Uncertain significance (VUS) | VALIDATED |
| | 2008-04-23 | 2023-11-06 |
| exon 4 | c.681G>T | p.(Gly227=) | G227G | Likely benign | VALIDATED |
| | 2017-08-18 | |
| exon 4 | c.693A>T | p.(Thr231=) | T231T | Likely benign | VALIDATED |
| | 2012-08-22 | |
| exon 4 | c.699G>A | p.(Leu233=) | L233L | Likely benign | VALIDATED |
| | 2008-10-23 | |
| exon 4 | c.726G>A | p.(Ala242=) | A242A | Benign | VALIDATED |
| | 2002-07-28 | |
| exon 4 | c.760C>A | p.(Leu254Met) | p.L254M | Not classified | To be validated |
| | 2018-02-27 | 2023-11-06 |
| exon 4 | c.777T>G | p.(Cys259Trp) | C259W | Likely pathogenic | VALIDATED |
| | 2007-04-09 | 2023-11-27 |
| exon 4 | c.778C>T | p.(Arg260Trp) | R260W | Pathogenic | VALIDATED |
| | 2002-06-21 | 2023-11-27 |
| exon 4 | c.779G>T | p.(Arg260Leu) | R260L | Pathogenic | VALIDATED |
| | 2003-12-29 | 2023-11-27 |
| exon 4 | c.779G>C | p.(Arg260Pro) | R260P | Pathogenic | VALIDATED |
| | 2003-12-29 | 2023-11-06 |
| exon 4 | c.779G>A | p.(Arg260Gln) | R260Q | Not classified | To be validated |
| | 2016-02-02 | 2023-11-27 |
| exon 4 | c.780G>A | p.(Arg260=) | R260R | Likely benign | VALIDATED |
| | 2002-07-28 | |
| exon 4 | c.785T>C | p.(Val262Ala) | V262A | Likely pathogenic | VALIDATED |
| | 2007-04-09 | 2023-11-06 |
| exon 4 | c.785T>G | p.(Val262Gly) | V262G | Pathogenic | To be validated |
| | 2008-02-13 | 2024-02-26 |
| exon 4 | c.790C>T | p.(Leu264Phe) | L264F | Likely pathogenic | VALIDATED |
| | 2007-04-09 | 2023-11-06 |
| exon 4 | c.790C>G | p.(Leu264Val) | L264V | Likely pathogenic | VALIDATED |
| | 2007-05-17 | 2023-11-06 |
| exon 4 | c.791T>A | p.(Leu264His) | L264H | Pathogenic | VALIDATED |
| | 2002-09-16 | 2023-11-06 |
| exon 4 | c.791T>C | p.(Leu264Pro) | L264P | Likely pathogenic | VALIDATED |
| | 2017-08-16 | 2023-11-06 |
| exon 4 | c.791T>G | p.(Leu264Arg) | L264R | Likely pathogenic | VALIDATED |
| | 2004-08-17 | 2023-11-06 |
| exon 4 | c.796A>C | p.(Thr266Pro) | T266P | Likely pathogenic | PROVISIONAL |
| | 2010-07-29 | 2023-11-06 |
| exon 4 | c.838G>A | p.(Asp280Asn) | D280N | Uncertain significance (VUS) | VALIDATED |
| | 2014-04-01 | 2023-11-06 |
| exon 4 | c.864C>G | p.(Ile288Met) | I288M | Uncertain significance (VUS) | VALIDATED |
| | 2013-05-21 | 2023-11-06 |
| exon 4 | c.895A>G | p.(Met299Val) | M299V | Uncertain significance (VUS) | VALIDATED |
| | 2008-04-23 | 2023-11-06 |
| exon 4 | c.901G>A | p.(Gly301Ser) | G301S | Unsolved | UNSOLVED |
| | 2013-05-06 | 2023-11-06 |
| exon 4 | c.902G>A | p.(Gly301Asp) | G301D | Unsolved | UNSOLVED |
| | 2003-02-28 | 2023-11-27 |
| exon 4 | c.905T>G | p.(Phe302Cys) | F302C | Likely pathogenic | To be validated |
| | 2020-08-12 | 2023-11-06 |
| exon 4 | c.906C>A | p.(Phe302Leu) | F302L | Likely pathogenic | To be validated |
| | 2020-04-02 | 2023-11-06 |
| exon 4 | c.906C>G | p.(Phe302Leu) | F302L(C>G) | Likely pathogenic | To be validated |
| | 2022-04-22 | 2023-11-06 |
| exon 4 | c.907G>C | p.(Asp303His) | D303H | Likely pathogenic | VALIDATED |
| | 2007-03-15 | 2023-11-06 |
| exon 4 | c.907G>A | p.(Asp303Asn) | D303N | Pathogenic | VALIDATED |
| | 2002-06-21 | 2023-11-06 |
| exon 4 | c.908A>C | p.(Asp303Ala) | D303A | Likely pathogenic | VALIDATED |
| | 2013-12-13 | 2023-11-06 |
| exon 4 | c.908A>G | p.(Asp303Gly) | D303G | Pathogenic | VALIDATED |
| | 2003-12-29 | 2023-11-06 |
| exon 4 | c.910G>A | p.(Glu304Lys) | E304K | Pathogenic | VALIDATED |
| | 2007-07-03 | 2023-11-06 |
| exon 4 | c.912G>T | p.(Glu304Asp) | E306D | Likely pathogenic | To be validated |
| | 2021-01-11 | 2023-11-06 |
| exon 4 | c.914T>C | p.(Leu305Pro) | L305P | Pathogenic | VALIDATED |
| | 2002-07-12 | 2023-11-06 |
| exon 4 | c.916C>G | p.(Gln306Glu) | Q306E | Likely pathogenic | PROVISIONAL |
| | 2009-03-30 | 2023-11-06 |
| exon 4 | c.916C>A | p.(Gln306Lys) | Q306K | Likely pathogenic | PROVISIONAL |
| | 2002-07-28 | 2023-11-06 |
| exon 4 | c.919G>A | p.(Gly307Ser) | G307S | Likely pathogenic | VALIDATED |
| | 2011-09-01 | 2023-11-06 |
| exon 4 | c.920G>C | p.(Gly307Ala) | G307A | Likely pathogenic | To be validated |
| | 2023-09-08 | |
| exon 4 | c.920G>A | p.(Gly307Asp) | G307D | Not classified | To be validated |
| | 2017-08-25 | 2023-11-06 |
| exon 4 | c.920G>T | p.(Gly307Val) | G307V | Likely pathogenic | VALIDATED |
| | 2006-08-08 | 2023-11-06 |
| exon 4 | c.920_928del | p.(Gly307_Phe309del) | p.G307_F309del | Uncertain significance (VUS) | To be validated |
| | 2023-02-09 | |
| exon 4 | c.926T>C | p.(Phe309Ser) | F309S | Likely pathogenic | VALIDATED |
| | 2002-07-28 | 2023-11-06 |
| exon 4 | c.926T>A | p.(Phe309Tyr) | F309Y | Likely pathogenic | VALIDATED |
| | 2013-05-30 | 2023-11-06 |
| exon 4 | c.926_934del | p.(Phe309_His312delinsTyr) | G309_F311del | Likely pathogenic | To be validated |
| | 2019-11-08 | 2023-11-27 |
| exon 4 | c.930C>T | p.(Asp310=) | D310D | Likely benign | VALIDATED |
| | 2003-04-19 | |
| exon 4 | c.931G>A | p.(Glu311Lys) | E311K | Likely pathogenic | VALIDATED |
| | 2006-08-08 | 2023-11-06 |
| exon 4 | c.935A>C | p.(His312Pro) | H312P | Likely pathogenic | VALIDATED |
| | 2007-12-26 | 2023-11-06 |
| exon 4 | c.937A>G | p.(Ile313Val) | I313V | Uncertain significance (VUS) | PROVISIONAL |
| | 2009-03-09 | 2023-11-06 |
| exon 4 | c.944C>T | p.(Pro315Leu) | P315L | Uncertain significance (VUS) | VALIDATED |
| | 2006-01-23 | 2023-11-06 |
| exon 4 | c.973C>T | p.(Arg325Trp) | R325W | Likely benign | To be validated |
| | 2009-01-07 | 2024-02-26 |
| exon 4 | c.974G>A | p.(Arg325Gln) | R325Q | Uncertain significance (VUS) | VALIDATED |
| | 2010-05-06 | 2023-11-06 |
| exon 4 | c.977G>C | p.(Gly326Ala) | G326A | Likely benign | To be validated |
| | 2023-02-28 | |
| exon 4 | c.977G>A | p.(Gly326Glu) | G326E | Likely pathogenic | VALIDATED |
| | 2005-07-03 | 2023-11-06 |
| exon 4 | c.992G>A | - | S331N | Likely pathogenic | To be validated |
| | 2024-02-20 | |
| exon 4 | c.993C>A | p.(Ser331Arg) | S331R | Likely pathogenic | PROVISIONAL |
| | 2004-08-25 | 2023-11-06 |
| exon 4 | c.995G>A | p.(Ser332Asn ) | S332N | Uncertain significance (VUS) | VALIDATED |
| | 2017-08-18 | 2023-11-06 |
| exon 4 | c.1000A>G | p.(Ile334Val) | I334V | Likely pathogenic | PROVISIONAL |
| | 2009-09-21 | 2023-11-06 |
| exon 4 | c.1020C>T | p.(Pro340=) | P340P | Benign | VALIDATED |
| | 2004-09-21 | 2009-03-09 |
| exon 4 | c.1032G>A | p.(Leu344=) | L344L | Benign | VALIDATED |
| | 2006-09-01 | 2009-03-09 |
| exon 4 | c.1040C>T | p.(Thr347Ile) | T347I | Likely pathogenic | To be validated |
| | 2021-10-07 | 2023-11-06 |
| exon 4 | c.1043C>T | p.(Thr348Met) | T348M | Pathogenic | VALIDATED |
| | 2002-06-21 | 2023-11-06 |
| exon 4 | c.1044G>A | p.(Thr348=) | T348T | Benign | VALIDATED |
| | 2013-05-06 | |
| exon 4 | c.1049C>T | p.(Pro350Leu) | P350L | Unsolved | UNSOLVED |
| | 2013-02-05 | 2023-11-06 |
| exon 4 | c.1051G>C | p.(Val351Leu) | V351L | Likely pathogenic | PROVISIONAL |
| | 2006-10-22 | 2023-11-06 |
| exon 4 | c.1051G>T | p.(Val351Leu) | V351LGT | Likely pathogenic | To be validated |
| | 2019-06-09 | 2023-11-06 |
| exon 4 | c.1051G>A | p.(Val351Met) | V351M | Likely pathogenic | PROVISIONAL |
| | 2006-01-24 | 2023-11-06 |
| exon 4 | c.1054G>T | p.(Ala352Ser) | A352S | Likely pathogenic | To be validated |
| | 2021-08-30 | 2023-11-06 |
| exon 4 | c.1054G>A | p.(Ala352Thr) | A352T | Likely pathogenic | VALIDATED |
| | 2009-06-19 | 2023-11-06 |
| exon 4 | c.1055C>T | p.(Ala352Val) | A352V | Pathogenic | VALIDATED |
| | 2002-04-30 | 2023-11-06 |
| exon 4 | c.1058T>C | p.(Leu353Pro) | L353P | Likely pathogenic | VALIDATED |
| | 2002-09-17 | 2023-11-06 |
| exon 4 | c.1062G>T | p.(Glu354Asp) | E354D | Likely pathogenic | VALIDATED |
| | 2003-12-29 | 2023-11-06 |
| exon 4 | c.1064A>C | p.(Lys355Thr) | K355T | Likely pathogenic | VALIDATED |
| | 2013-12-13 | 2023-11-06 |
| exon 4 | c.1065A>T | p.(Lys355Asn) | K355N | Likely pathogenic | PROVISIONAL |
| | 2011-10-10 | 2023-11-06 |
| exon 4 | c.1073A>G | p.(His358Arg) | H358R | Likely pathogenic | VALIDATED |
| | 2002-07-28 | 2023-11-06 |
| exon 4 | c.1075T>G | p.(Leu359Val) | L359V | Likely pathogenic | To be validated |
| | 2020-04-02 | 2023-11-06 |
| exon 4 | c.1076T>G | p.(Leu359Trp) | L361W | Likely pathogenic | To be validated |
| | 2022-06-13 | 2023-11-06 |
| exon 4 | c.1105C>A | p.(Leu369Met) | L369M | Uncertain significance (VUS) | VALIDATED |
| | 2012-09-03 | 2023-11-06 |
| exon 4 | c.1121C>A | p.(Ala374Asp) | A374D | Likely pathogenic | VALIDATED |
| | 2002-09-16 | 2023-11-06 |
| exon 4 | c.1123A>G | p.(Lys375Glu) | K375E | Uncertain significance (VUS) | VALIDATED |
| | 2011-08-03 | 2023-11-06 |
| exon 4 | c.1132G>A | p.(Glu378Lys) | E378K | Uncertain significance (VUS) | VALIDATED |
| | 2012-01-12 | 2023-11-06 |
| exon 4 | c.1204G>C | p.(Val402Leu) | V402L | Likely pathogenic | To be validated |
| | 2024-01-29 | |
| exon 4 | c.1213A>C | p.(Thr405Pro) | T405P | Likely pathogenic | VALIDATED |
| | 2003-12-29 | 2023-11-06 |
| exon 4 | c.1216A>G | p.(Met406Val) | M406V | Likely pathogenic | VALIDATED |
| | 2011-10-10 | 2023-11-06 |
| exon 4 | c.1217T>C | p.(Met406Thr) | M406T | Uncertain significance (VUS) | To be validated |
| | 2020-01-28 | 2023-11-06 |
| exon 4 | c.1218G>C | p.(Met406Ile) | M406I | Likely pathogenic | VALIDATED |
| | 2007-07-27 | 2023-11-06 |
| exon 4 | c.1223T>C | p.(Phe408Ser) | F408S | Likely pathogenic | To be validated |
| | 2022-02-14 | 2023-11-06 |
| exon 4 | c.1231_1233delinsTTT | p.(Leu411Phe) | L411F | Likely pathogenic | To be validated |
| | 2020-08-28 | 2023-11-06 |
| exon 4 | c.1231C>T | p.(Leu411=) | L411L C>T | Benign | VALIDATED |
| |
2003-05-27 | 2014-06-25 |
| exon 4 | c.1231C>A | p.(Leu411Met) | L411M | Likely pathogenic | To be validated |
| | 2020-12-30 | 2023-11-06 |
| exon 4 | c.1231C>G | p.(Leu411Val) | L411V | Likely pathogenic | PROVISIONAL |
| | 2013-05-06 | 2023-11-06 |
| exon 4 | c.1233G>T | p.(Leu411=) | L411L G>T | Benign | VALIDATED |
| |
2013-12-13 | 2020-03-18 |
| exon 4 | c.1241G>T | p.(Trp414Leu) | W414L | Likely pathogenic | PROVISIONAL |
| | 2008-08-05 | 2023-11-06 |
| exon 4 | c.1245C>T | p.(Ile415=) | I415I | Likely benign | VALIDATED |
| | 2013-05-06 | |
| exon 4 | c.1298C>T | p.(Thr433Ile) | T433I | Likely pathogenic | PROVISIONAL |
| | 2011-10-10 | 2023-11-06 |
| exon 4 | c.1302C>T | p.(Ser434=) | S434S | Benign | VALIDATED |
| | 2002-07-28 | |
| exon 4 | c.1303A>G | p.(Lys435Glu) | K435E | Pathogenic | To be validated |
| | 2013-07-01 | 2024-02-26 |
| exon 4 | c.1305G>T | p.(Lys435Asn) | K437N | Likely pathogenic | To be validated |
| | 2021-01-11 | 2023-11-06 |
| exon 4 | c.1306A>G | p.(Thr436Ala) | T436A | Likely pathogenic | VALIDATED |
| | 2007-06-23 | 2023-11-06 |
| exon 4 | c.1306_1308del | p.(Thr438del) | T436DEL | Likely pathogenic | PROVISIONAL |
| | 2008-04-02 | 2023-11-06 |
| exon 4 | c.1306A>C | p.(Thr436Pro) | T436P | Likely pathogenic | VALIDATED |
| | 2006-02-28 | 2023-11-06 |
| exon 4 | c.1307C>T | p.(Thr436Ile) | T436I | Pathogenic | VALIDATED |
| | 2003-12-29 | 2023-11-06 |
| exon 4 | c.1307C>A | p.(Thr436Asn) | T436N | Likely pathogenic | VALIDATED |
| | 2002-07-28 | 2023-11-06 |
| exon 4 | c.1315G>C | p.(Ala439Pro) | A439P | Likely pathogenic | VALIDATED |
| | 2004-09-17 | 2023-11-06 |
| exon 4 | c.1315G>A | p.(Ala439Thr) | A439T | Likely pathogenic | VALIDATED |
| | 2002-06-21 | 2023-11-06 |
| exon 4 | c.1316C>T | p.(Ala439Val) | A439V | Pathogenic | VALIDATED |
| | 2002-04-30 | 2023-11-06 |
| exon 4 | c.1321T>C | p.(Tyr441His) | Y441H | Uncertain significance (VUS) | VALIDATED |
| | 2008-12-02 | 2023-11-06 |
| exon 4 | c.1323C>T | p.(Tyr441=) | Y441Y | Likely benign | VALIDATED |
| | 2013-05-06 | |
| exon 4 | c.1324G>A | p.(Val442Ile) | V442I | Uncertain significance (VUS) | To be validated |
| | 2023-09-19 | |
| exon 4 | c.1329C>G | p.(Phe443Leu) | F443L | Likely pathogenic | VALIDATED |
| | 2007-04-09 | 2023-11-06 |
| exon 4 | c.1330T>G | p.(Phe444Val) | F444V | Pathogenic | To be validated |
| | 2019-08-21 | 2023-11-06 |
| exon 4 | c.1361G>A | p.(Gly454Glu) | G454E | Not classified | To be validated |
| | 2019-07-03 | 2023-11-06 |
| exon 4 | c.1374C>T | p.(His458=) | H458H | Likely benign | VALIDATED |
| | 2007-05-17 | |
| exon 4 | c.1375G>T | p.(Gly459Cys) | G459C | Not classified | To be validated |
| | 2021-01-11 | 2023-11-06 |
| exon 4 | c.1383C>T | p.(Cys461=) | C461C | Likely benign | VALIDATED |
| | 2003-04-19 | |
| exon 4 | c.1389C>T | p.(His463=) | H463H | Benign | VALIDATED |
| | 2003-04-19 | |
| exon 4 | c.1401C>T | p.(Leu467=) | L467L | Likely benign | VALIDATED |
| | 2010-08-26 | |
| exon 4 | c.1431C>A | p.(Asn477Lys) | N477K | Likely pathogenic | VALIDATED |
| | 2007-07-03 | 2023-11-06 |
| exon 4 | c.1438A>T | p.(Ile480Phe) | I480F | Likely pathogenic | VALIDATED |
| | 2007-05-23 | 2023-11-06 |
| exon 4 | c.1463G>A | p.(Arg488Lys) | R488K | Uncertain significance (VUS) | VALIDATED |
| | 2003-01-13 | 2023-11-06 |
| exon 4 | c.1484C>T | p.(Ala495Val) | A495V | Uncertain significance (VUS) | VALIDATED |
| | 2007-03-15 | 2023-11-06 |
| exon 4 | c.1556T>C | p.(Ile519Thr) | I519T | Not classified | To be validated |
| | 2018-10-15 | 2023-11-27 |
| exon 4 | c.1562T>C | p.(Met521Thr) | M521T | Uncertain significance (VUS) | VALIDATED |
| | 2013-07-02 | 2023-11-06 |
| exon 4 | c.1568T>G | p.(Phe523Cys) | F523C | Pathogenic | VALIDATED |
| | 2007-04-09 | 2023-11-27 |
| exon 4 | c.1568T>A | p.(Phe523Tyr) | F523Y | Likely pathogenic | VALIDATED |
| | 2017-08-18 | 2023-11-06 |
| exon 4 | c.1569C>A | p.(Phe523Leu) | F523LC>A | Likely pathogenic | VALIDATED |
| | 2002-09-16 | 2023-11-27 |
| exon 4 | c.1569C>G | p.(Phe523Leu) | F523LC>G | Likely pathogenic | VALIDATED |
| | 2002-09-16 | 2023-11-06 |
| exon 4 | c.1573G>A | p.(Glu525Lys) | E525K | Likely pathogenic | VALIDATED |
| | 2005-08-16 | 2023-11-27 |
| exon 4 | c.1574A>T | p.(Glu525Val) | E525V | Likely pathogenic | VALIDATED |
| | 2010-11-30 | 2023-11-06 |
| exon 4 | c.1600C>T | p.(Leu534=) | L534L | Likely benign | VALIDATED |
| | 2003-04-19 | |
| exon 4 | c.1625C>T | p.(Thr542Met) | T544M | Uncertain significance (VUS) | VALIDATED |
| | 2014-12-03 | 2023-11-06 |
| exon 4 | c.1630G>A | p.(Val544Ile) | V544I | Not classified | To be validated |
| | 2020-01-28 | 2023-11-06 |
| exon 4 | c.1642C>T | p.(Arg548Cys) | R548C | Unsolved | UNSOLVED |
| | 2013-05-06 | 2023-11-06 |
| exon 4 | c.1660C>T | p.(Arg554*) | R554X | Likely pathogenic | VALIDATED |
| | 2005-12-27 | 2023-11-06 |
| exon 4 | c.1669A>G | p.(Thr557Ala) | T557A | Uncertain significance (VUS) | VALIDATED |
| | 2006-01-11 | 2023-11-06 |
| exon 4 | c.1687T>A | p.(Tyr563Asn) | Y563N | Likely pathogenic | VALIDATED |
| | 2007-04-09 | 2023-11-06 |
| exon 4 | c.1688A>G | p.(Tyr563Cys) | Y563C | Not classified | To be validated |
| | 2017-09-24 | 2023-11-06 |
| exon 4 | c.1690G>A | p.(Gly564Ser) | G564S | Not classified | To be validated |
| | 2017-09-24 | 2023-11-06 |
| exon 4 | c.1691G>A | p.(Gly564Asp) | G564D | Likely pathogenic | To be validated |
| | 2020-04-02 | 2023-11-06 |
| exon 4 | c.1693A>G | p.(Lys565Glu) | K565E | Likely pathogenic | To be validated |
| | 2019-12-19 | 2024-02-26 |
| exon 4 | c.1697T>A | p.(Phe566Tyr) | F566Y | Likely pathogenic | To be validated |
| | 2019-06-09 | 2023-11-06 |
| exon 4 | c.1698C>A | p.(Phe566Leu) | F566L | Likely pathogenic | VALIDATED |
| | 2011-10-10 | 2023-11-06 |
| exon 4 | c.1699G>A | p.(Glu567Lys) | E567K | Likely pathogenic | VALIDATED |
| | 2007-12-06 | 2023-11-06 |
| exon 4 | c.1699G>C | p.(Glu567Gln) | E567Q | Likely pathogenic | To be validated |
| | 2020-04-02 | 2023-11-06 |
| exon 4 | c.1700A>C | p.(Glu567Ala) | E567A | Likely pathogenic | VALIDATED |
| | 2013-12-13 | 2023-11-06 |
| exon 4 | c.1700A>G | p.(Glu567Gly) | E567G | Likely pathogenic | To be validated |
| | 2020-04-02 | 2023-11-06 |
| exon 4 | c.1704G>C | p.(Lys568Asn) | K568N | Likely pathogenic | VALIDATED |
| | 2011-10-10 | 2023-11-06 |
| exon 4 | c.1705G>C | p.(Gly569Arg) | G569R | Pathogenic | VALIDATED |
| | 2002-06-21 | 2023-11-06 |
| exon 4 | c.1705G>A | p.(Gly569Arg) | G571R | Pathogenic | To be validated |
| | 2022-06-13 | 2023-11-06 |
| exon 4 | c.1706G>C | p.(Gly569Ala) | G569A | Likely pathogenic | VALIDATED |
| | 2008-03-13 | 2023-11-06 |
| exon 4 | c.1706G>T | p.(Gly569Val) | G569V | Likely pathogenic | To be validated |
| | 2020-04-02 | 2023-11-06 |
| exon 4 | c.1708T>C | p.(Tyr570His) | Y570H | Not classified | To be validated |
| | 2017-01-18 | 2023-11-06 |
| exon 4 | c.1708T>A | p.(Tyr570Asn) | Y570N | Likely pathogenic | VALIDATED |
| | 2017-08-16 | 2023-11-06 |
| exon 4 | c.1709A>G | p.(Tyr570Cys) | Y570C | Likely pathogenic | VALIDATED |
| | 2002-09-16 | 2023-11-06 |
| exon 4 | c.1709A>T | p.(Tyr570Phe) | Y570F | Likely pathogenic | VALIDATED |
| | 2006-04-04 | 2023-11-06 |
| exon 4 | c.1712T>G | p.(Leu571Trp) | L573W | Likely pathogenic | To be validated |
| | 2023-11-06 | |
| exon 4 | c.1713G>T | p.(Leu571Phe) | L571F | Likely pathogenic | VALIDATED |
| | 2008-02-25 | 2023-11-06 |
| exon 4 | c.1713G>C | p.(Leu571Phe) | L571FG>C | Likely pathogenic | VALIDATED |
| | 2010-05-06 | 2023-11-27 |
| exon 4 | c.1714A>T | p.(Ile572Phe) | I572F | Likely pathogenic | VALIDATED |
| | 2008-02-25 | 2023-11-06 |
| exon 4 | c.1718T>C | p.(Phe573Ser) | F573S | Likely pathogenic | VALIDATED |
| | 2002-07-28 | 2023-11-06 |
| exon 4 | c.1736T>A | p.(Phe579Tyr) | F579Y | Not classified | To be validated |
| | 2014-02-20 | 2023-11-06 |
| exon 4 | c.1760C>T | p.(Thr587Ile) | T587I | Likely pathogenic | PROVISIONAL |
| | 2006-08-02 | 2023-11-06 |
| exon 4 | c.1783A>G | p.(Ser595Gly) | S595G | Likely pathogenic | VALIDATED |
| | 2010-11-30 | 2023-11-06 |
| exon 4 | c.1784G>A | p.(Ser595Asn) | S595N | Uncertain significance (VUS) | To be validated |
| | 2023-09-25 | |
| exon 4 | c.1792A>T | p.(Ile598Phe) | I598F | Likely pathogenic | VALIDATED |
| | 2013-03-29 | 2023-11-06 |
| exon 4 | c.1807A>G | p.(Arg603Gly) | R603G | Likely pathogenic | To be validated |
| | 2017-09-28 | 2023-11-06 |
| exon 4 | c.1814A>T | p.(Glu605Val) | E605V | Not classified | To be validated |
| | 2017-12-20 | 2023-11-06 |
| exon 4 | c.1872C>G | p.Ser624Arg | S624R | Pathogenic | To be validated |
| | 2022-08-09 | 2023-11-06 |
| exon 4 | c.1879G>C | p.(Glu627Gln) | E627Q | Likely pathogenic | To be validated |
| | 2020-07-02 | 2023-11-06 |
| exon 4 | c.1880A>G | p.(Glu627Gly) | E627G | Pathogenic | VALIDATED |
| | 2002-04-30 | 2023-11-06 |
| exon 4 | c.1881A>T | p.(Glu627Asp) | E627D | Likely pathogenic | VALIDATED |
| | 2010-09-09 | 2023-11-06 |
| exon 4 | c.1896G>T | p.(Leu632Phe) | L632F | Pathogenic | VALIDATED |
| | 2003-12-29 | 2023-11-06 |
| exon 4 | c.1906C>G | p.(Gln636Glu) | Q636E | Not classified | To be validated |
| | 2016-06-10 | 2023-11-06 |
| exon 4 | c.1903A>T | p.Met637Leu | M635L | Uncertain significance (VUS) | To be validated |
| | 2022-08-22 | 2023-09-01 |
| exon 4 | c.1912G>A | p.(Glu638Lys) | E638K | Not classified | To be validated |
| | 2019-07-03 | 2023-11-06 |
| exon 4 | c.1936G>T | p.(Asp646Tyr) | D646Y | Uncertain significance (VUS) | VALIDATED |
| | 2014-02-24 | 2023-11-06 |
| exon 4 | c.1945C>T | p.(Pro649Ser) | P649S | Not classified | To be validated |
| | 2016-09-27 | 2023-11-06 |
| exon 4 | c.1976T>A | p.(Met659Lys) | M659K | Pathogenic | VALIDATED |
| | 2005-08-16 | 2023-11-06 |
| exon 4 | c.1985T>C | p.(Met662Thr) | M662T | Likely pathogenic | VALIDATED |
| | 2002-07-28 | 2023-11-06 |
| exon 4 | c.1991T>C | p.Met664Thr | M664T | Pathogenic | To be validated |
| | 2022-09-12 | 2022-12-20 |
| exon 4 | c.2030T>C | p.(Leu677Pro) | L677P | Uncertain significance (VUS) | VALIDATED |
| | 2013-05-06 | 2023-11-06 |
| exon 4 | c.2034C>T | p.(Ser678=) | S678S | Likely benign | VALIDATED |
| | 2017-08-18 | 2017-09-11 |
| exon 4 | c.2062G>A | p.(Glu688Lys) | E688K | Likely pathogenic | VALIDATED |
| | 2007-07-03 | 2023-11-06 |
| exon 4 | c.2068G>A | p.(Glu690Lys) | E690K | Likely pathogenic | To be validated |
| | 2008-04-28 | 2024-02-26 |
| exon 4 | c.2068G>C | p.(Glu690Gln) | E690Q | Uncertain significance (VUS) | To be validated |
| | 2021-11-15 | 2023-11-06 |
| exon 4 | c.2102T>C | p.(Met701Thr) | M701T | Uncertain significance (VUS) | PROVISIONAL |
| | 2008-08-18 | 2023-11-06 |
| exon 4 | c.2107C>A | p.(Gln703Lys) | Q703K | Uncertain significance (VUS) | VALIDATED |
| | 2002-12-12 | 2023-11-06 |
| exon 4 | c.2129C>G | p.(Ser710Cys) | S710C | Uncertain significance (VUS) | PROVISIONAL |
| | 2004-11-15 | 2023-11-06 |
| exon 4 | c.2133T>C | p.(His711His) | H711H | Likely benign | VALIDATED |
| | 2017-09-05 | 2023-11-06 |
| exon 4 | c.2134G>T | p.(Ala712Ser) | A712S | Uncertain significance (VUS) | PROVISIONAL |
| | 2013-08-16 | 2023-11-06 |
| intron 4 | c.2150+59G>A | p.? | c.2150+59G>A | Benign | VALIDATED |
| | 2007-08-14 | 2009-06-22 |
| exon 5 | c.2176A>G | p.(Ser726Gly) | S726G | Uncertain significance (VUS) | VALIDATED |
| | 2011-07-14 | 2023-11-06 |
| exon 5 | c.2263G>A | p.(Gly755Arg) | G755RG>A | Pathogenic | VALIDATED |
| | 2012-05-07 | 2023-11-06 |
| exon 5 | c.2263G>C | p.(Gly755Arg) | G755RG>C | Pathogenic | VALIDATED |
| | 2006-08-08 | 2023-11-06 |
| exon 5 | c.2264G>C | p.(Gly755Ala) | G755A | Likely pathogenic | VALIDATED |
| | 2007-01-10 | 2023-11-06 |
| exon 5 | c.2299G>A | p.(Gly767Ser) | G767S | Likely pathogenic | To be validated |
| | 2020-04-02 | 2023-11-06 |
| intron 5 | c.2321+85A>G | p.? | c.2321+85A>G | Benign | VALIDATED |
| | 2005-12-29 | |
| intron 5 | c.2322-527_2322-486(6_12) | p.? | VNTR | Not classified | To be validated |
| | 2007-08-14 | 2011-09-09 |
| intron 5 | c.2322-225T>C | p.? | c.2322-225T>C | Likely benign | VALIDATED |
| | 2017-09-05 | 2017-09-05 |
| intron 5 | c.2322-224G>A | p.? | c.2322-224G>A | Likely benign | VALIDATED |
| | 2017-09-05 | 2017-09-05 |
| intron 5 | c.2322-197T>G | p.? | c.2322-197T>G | Likely benign | VALIDATED |
| | 2017-09-05 | 2017-09-05 |
| intron 5 | c.2322-194T>C | p.? | c.2322-194T>C | Likely benign | VALIDATED |
| | 2017-09-05 | 2017-09-05 |
| intron 5 | c.2322-76C>T | p.? | c.2322-76C>T | Benign | VALIDATED |
| | 2004-12-10 | 2017-08-18 |
| intron 5 | c.2322-55_2322-54ins42 | p.? | c.2322-55_2322-54ins42 | Not classified | To be validated |
| | 2004-12-10 | |
| intron 5 | c.2322-40G>A | p.? | c.2322-40 G>A | Benign | VALIDATED |
| | 2004-12-07 | 2017-08-18 |
| exon 6 | c.2329C>T | p.(Arg777Cys) | R777C | Uncertain significance (VUS) | To be validated |
| | 2019-06-09 | 2023-11-06 |
| exon 6 | c.2336G>T | p.(Gly779Val) | G779V | Not classified | To be validated |
| | 2019-04-19 | 2023-11-06 |
| exon 6 | c.2359G>A | p.(Asp787Asn) | D787N | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2023-11-06 |
| exon 6 | c.2387A>C | p.(Gln796Pro) | Q796P | Not classified | To be validated |
| | 2019-07-03 | 2023-11-06 |
| exon 6 | c.2425G>A | p.(Gly809Ser) | G809S | Uncertain significance (VUS) | VALIDATED |
| | 2012-01-12 | 2023-11-06 |
| exon 6 | c.2486A>C | p.(Lys829Thr) | K829T | Uncertain significance (VUS) | To be validated |
| | 2023-09-19 | 2024-01-22 |
| exon 6 | c.2488C>A | p.(Leu830Ile) | L830I | Uncertain significance (VUS) | To be validated |
| | 2022-01-11 | 2023-11-06 |
| intron 7 | c.2492+82delG | p.? | c.2492+82delG | Likely benign | VALIDATED |
| | 2017-09-05 | |
| intron 7 | c.2493-133G>C | p.? | c.2493-133G>C | Likely benign | VALIDATED |
| | 2017-09-05 | |
| intron 7 | c.2493-40G>A | p.? | c.2493-40G>A | Likely benign | VALIDATED |
| | 2017-09-05 | |
| exon 7 | c.2575T>C | p.(Tyr859His) | Y859H | Likely pathogenic | VALIDATED |
| | 2013-05-06 | 2023-11-06 |
| exon 7 | c.2576A>G | p.(Tyr859Cys) | Y859C | Likely pathogenic | VALIDATED |
| | 2004-09-02 | 2023-11-06 |
| exon 7 | c.2580G>T | p.(Val860=) | V860V | Likely benign | VALIDATED |
| | 2013-05-06 | |
| exon 7 | c.2596G>A | p.(Gly866Arg) | G866R | Uncertain significance (VUS) | VALIDATED |
| | 2013-05-06 | 2023-11-06 |
| exon 7 | c.2611G>A | p.(Ala871Thr) | A871T | Not classified | To be validated |
| | 2019-07-03 | 2023-11-06 |
| intron 7 | c.2663+71T>C | p.? | c.2663+71T>C | Likely benign | VALIDATED |
| | 2017-09-05 | 2017-09-05 |
| intron 7 | c.2663+859A>C | p.? | c.2663+859A>C | Benign | VALIDATED |
| | 2007-08-14 | 2009-06-22 |
| exon 8 | c.2668G>T | p.(Val890Leu) | V890L | Likely benign | To be validated |
| | 2021-10-18 | 2023-11-06 |
| exon 8 | c.2686T>C | p.(Ser896Pro) | S896P | Uncertain significance (VUS) | VALIDATED |
| | 2017-09-05 | 2023-11-06 |
| exon 8 | c.2732A>G | p.(Asn911Ser) | N911S | Likely benign | To be validated |
| | 2019-07-16 | 2023-11-06 |
| exon 8 | c.2753G>A | p.(Arg918Gln) | R918Q | Not classified | To be validated |
| | 2017-09-06 | 2023-11-06 |
| exon 9 | c.2855C>T | p.(Thr952Met) | T952M | Uncertain significance (VUS) | VALIDATED |
| | 2013-07-01 | 2023-11-06 |
| exon 9 | c.2917A>G | p.Ser975Gly | S975G | Benign | To be validated |
| | 2021-07-02 | 2023-11-06 |
| exon 9 | c.2958G>A | p.(Met986Ile) | M986I | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2023-11-06 |
| intron 9 | c.3005+25C>T | p.? | c.3005+25C>T | Likely benign | VALIDATED |
| | 2008-01-21 | 2009-03-09 |
| intron 9 | c.3005+44C>A | p.? | c.3005+44C>A | Benign | VALIDATED |
| | 2005-04-19 | |
| intron 9 | c.3006-45_3006-44del | p.? | c.3006-45_-44delAG | Likely benign | VALIDATED |
| | 2005-12-19 | 2011-09-09 |
| 3UT | c.*177delC | p.? | c.*177delC | Likely benign | PROVISIONAL |
| | 2005-12-19 | |
| 3UT | c.*230G>C | p.? | c.*230G>C | Not classified | To be validated |
| | 2005-04-19 | 2021-02-11 |
