| 5 flanking | c.-610G>T | p.? | -609 G/T | Not classified | To be validated |
| | 2003-04-23 | 2008-05-09 |
| 5 flanking | c.-581A>G | p.? | -580 A/G | Not classified | To be validated |
| | 2003-08-04 | 2007-07-02 |
| 5 flanking | c.-559G>A | p.? | c.-559G>A | Not classified | To be validated |
| | 2011-06-10 | |
| 5 flanking | c.-508A>G | p.? | -508 A/G | Not classified | To be validated |
| | 2003-07-14 | 2018-11-06 |
| 5 flanking | c.-383A>C | p.? | -383 A/C | Not classified | To be validated |
| | 2003-04-25 | 2007-07-02 |
| exon 1 | c.15C>T | p.(Thr5=) | c.15C>T | Likely benign | VALIDATED |
| | 2017-08-21 | 2019-01-15 |
| exon 1 | c.36A>G | p.(Pro12=) | c.36A>G | Benign | VALIDATED |
| | 2003-04-25 | 2022-01-21 |
| intron 1 | c.39+97G>A | p.? | c.39+97G>A | Likely benign | VALIDATED |
| | 2011-06-10 | |
| intron 1 | c.39+1899(GT)17(GA)10 | p.? | c.39+1899(GT)n(GA)n | Not classified | To be validated |
| | 2003-07-14 | |
| intron 1 | c.40-3367C>T | p.? | c.40-3367C>T | Likely benign | VALIDATED |
| | 2012-06-01 | |
| intron 1 | c.40-981C>T | p.? | c.40-981C>T | Likely benign | VALIDATED |
| | 2011-06-10 | |
| exon 2 | c.59T>C | p.(Val20Ala) | c.59T>C | Uncertain significance (VUS) | PROVISIONAL |
| | 2011-08-24 | 2022-01-19 |
| exon 2 | c.81T>C | p.(Val27=) | c.81T>C | Likely benign | VALIDATED |
| | 2017-08-18 | |
| exon 2 | c.123T>G | p.(Asp41Glu) | D12E | Uncertain significance (VUS) | VALIDATED |
| | 2006-03-09 | |
| exon 2 | c.131G>A | p.(Cys44Tyr) | C15Y | Likely pathogenic | VALIDATED |
| | 2017-01-23 | 2017-02-01 |
| exon 2 | c.143A>T | p.(Lys48Ile) | K19I | Uncertain significance (VUS) | To be validated |
| | 2020-08-28 | |
| exon 2 | c.145T>G | p.(Tyr49Asp) | Y20D | Pathogenic | VALIDATED |
| | 2003-11-21 | |
| exon 2 | c.145T>C | p.(Tyr49His) | Y20H | Likely pathogenic | VALIDATED |
| | 2002-10-25 | |
| exon 2 | c.146A>G | p.(Tyr49Cys) | Y20C | Likely pathogenic | VALIDATED |
| | 2012-10-23 | 2013-01-14 |
| exon 2 | c.151C>T | p.(His51Tyr) | H22Y | Pathogenic | VALIDATED |
| | 2002-01-25 | |
| exon 2 | c.152A>G | p.(His51Arg) | H22R | Likely pathogenic | VALIDATED |
| | 2008-12-08 | 2008-12-15 |
| exon 2 | c.153C>G | p.(His51Gln) | H22Q | Likely pathogenic | PROVISIONAL |
| | 2004-02-10 | |
| exon 2 | c.160A>G | p.(Asn54Asp) | N25D | Uncertain significance (VUS) | PROVISIONAL |
| | 2011-09-02 | |
| exon 2 | c.168G>A | p.(Ser56=) | S27S | Likely benign | VALIDATED |
| | 2006-06-15 | |
| exon 2 | c.170T>G | p.(Ile57Ser) | I28S | Uncertain significance (VUS) | VALIDATED |
| | 2012-07-03 | 2012-07-11 |
| exon 2 | c.172T>G | p.(Cys58Gly) | C29G | Pathogenic | VALIDATED |
| | 2013-08-16 | 2013-09-04 |
| exon 2 | c.172T>C | p.(Cys58Arg) | C29R | Pathogenic | VALIDATED |
| | 2011-05-17 | |
| exon 2 | c.173G>T | p.(Cys58Phe) | C29F | Pathogenic | VALIDATED |
| | 2002-02-12 | |
| exon 2 | c.173G>C | p.(Cys58Ser) | C29S | Pathogenic | VALIDATED |
| | 2013-02-05 | |
| exon 2 | c.173G>A | p.(Cys58Tyr) | C29Y | Pathogenic | VALIDATED |
| | 2006-03-09 | |
| exon 2 | c.174C>G | p.(Cys58Trp) | C29W | Likely pathogenic | VALIDATED |
| | 2017-08-18 | 2018-11-06 |
| exon 2 | c.175T>C | p.(Cys59Arg) | C30R | Pathogenic | VALIDATED |
| | 2002-01-02 | |
| exon 2 | c.176G>T | p.(Cys59Phe) | C30F | Pathogenic | VALIDATED |
| | 2007-05-21 | |
| exon 2 | c.176G>C | p.(Cys59Ser) | C30S | Pathogenic | VALIDATED |
| | 2002-01-03 | |
| exon 2 | c.176G>A | p.(Cys59Tyr) | C30Y | Pathogenic | VALIDATED |
| | 2004-10-05 | |
| exon 2 | c.184T>G | p.(Cys62Gly) | C33G | Pathogenic | VALIDATED |
| | 2002-01-08 | |
| exon 2 | c.185G>A | p.(Cys62Tyr) | C33Y | Pathogenic | VALIDATED |
| | 2002-01-02 | |
| intron 2 | c.194-80C>T | p.? | c.194-80C>T | Likely benign | VALIDATED |
| | 2011-12-22 | 2011-12-29 |
| intron 2 | c.194-29G>A | p.? | c.194-29G>A | Likely benign | VALIDATED |
| | 2005-01-06 | |
| intron 2 | c.194-18_194-17del | p.? | c.194-18_-17delCT | Not classified | To be validated |
| | 2006-01-09 | 2019-03-11 |
| intron 2 | c.194-15C>T | p.? | c.194-15C>T | Likely benign | VALIDATED |
| | 2004-12-07 | |
| intron 2 | c.194-14G>A | p.? | c.193-14G>A | Pathogenic | VALIDATED |
| | 2003-02-12 | 2007-07-02 |
| exon 3 | c.194G>A | p.(Gly65Glu) | G36E | Likely pathogenic | VALIDATED |
| | 2002-11-18 | |
| exon 3 | c.197C>T | p.(Thr66Ile) | T37I | Likely pathogenic | PROVISIONAL |
| | 2003-04-23 | |
| exon 3 | c.200A>G | p.(Tyr67Cys) | Y38C | Likely pathogenic | VALIDATED |
| | 2002-02-12 | |
| exon 3 | c.200A>C | p.(Tyr67Ser) | Y38S | Likely pathogenic | VALIDATED |
| | 2009-11-02 | 2013-01-28 |
| exon 3 | c.204G>C | p.(Leu68Phe) | L39F | Likely pathogenic | VALIDATED |
| | 2005-02-28 | |
| exon 3 | c.211_213delGAC | p.(Asp71del) | D42DEL | Pathogenic | VALIDATED |
| | 2003-05-16 | |
| exon 3 | c.213C>A | p.(Asp71Glu) | D42E | Likely pathogenic | PROVISIONAL |
| | 2014-09-22 | |
| exon 3 | c.214T>G | p.(Cys72Gly) | C43G | Pathogenic | VALIDATED |
| | 2011-05-26 | 2011-05-27 |
| exon 3 | c.214T>C | p.(Cys72Arg) | C43R | Pathogenic | VALIDATED |
| | 2002-10-31 | |
| exon 3 | c.215G>T | p.(Cys72Phe) | C43F | Pathogenic | VALIDATED |
| | 2014-09-22 | |
| exon 3 | c.215G>C | p.(Cys72Ser) | C43S | Pathogenic | VALIDATED |
| | 2005-05-09 | |
| exon 3 | c.215G>A | p.(Cys72Tyr) | C43Y | Pathogenic | VALIDATED |
| | 2004-02-05 | 2021-03-25 |
| exon 3 | c.224C>T | p.(Pro75Leu) | P46L | Uncertain significance (VUS) | VALIDATED |
| | 2002-03-18 | |
| exon 3 | c.228G>A | p.(Gly76=) | G47G | Likely benign | VALIDATED |
| | 2006-03-09 | |
| exon 3 | c.231G>T | p.(Gln77His) | Q48H | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2023-05-05 |
| exon 3 | c.236C>A | p.(Thr79Lys) | T50K | Likely pathogenic | VALIDATED |
| | 2003-09-16 | 2008-01-21 |
| exon 3 | c.236C>T | p.(Thr79Met) | T50M | Pathogenic | VALIDATED |
| | 2002-01-02 | |
| exon 3 | c.241T>G | p.(Cys81Gly) | C52G | Likely pathogenic | To be validated |
| | 2019-11-08 | 2020-02-27 |
| exon 3 | c.241T>C | p.(Cys81Arg) | C52R | Pathogenic | VALIDATED |
| | 2002-06-18 | |
| exon 3 | c.242G>T | p.(Cys81Phe) | C52F | Pathogenic | VALIDATED |
| | 2002-01-02 | |
| exon 3 | c.242G>C | p.(Cys81Ser) | C52S | Pathogenic | VALIDATED |
| | 2007-09-04 | 2013-02-05 |
| exon 3 | c.242G>A | p.(Cys81Tyr) | C52Y | Pathogenic | VALIDATED |
| | 2006-03-09 | |
| exon 3 | c.243C>G | p.(Cys81Trp) | C52W | Pathogenic | VALIDATED |
| | 2010-01-29 | |
| exon 3 | c.244A>G | p.(Arg82Gly) | R53G | Uncertain significance (VUS) | PROVISIONAL |
| | 2013-08-16 | 2013-09-04 |
| exon 3 | c.249G>A | p.(Glu83=) | E54E | Likely benign | VALIDATED |
| | 2005-07-26 | |
| exon 3 | c.250T>C | p.(Cys84Arg) | C55R | Pathogenic | VALIDATED |
| | 2004-02-05 | |
| exon 3 | c.251G>C | p.(Cys84Ser) | C55S | Pathogenic | VALIDATED |
| | 2002-01-03 | |
| exon 3 | c.251G>A | p.(Cys84Tyr) | C55Y | Pathogenic | VALIDATED |
| | 2006-03-09 | |
| exon 3 | c.255G>C | p.(Glu85Asp) | E56D | Likely pathogenic | VALIDATED |
| | 2015-07-31 | 2016-12-26 |
| exon 3 | c.255_278del | p.(Ser86_Glu93del) | S57_E64del | Likely pathogenic | VALIDATED |
| | 2013-07-19 | 2016-03-21 |
| exon 3 | c.259G>A | p.(Gly87Ser) | G58S | Likely pathogenic | PROVISIONAL |
| | 2013-02-05 | 2017-08-11 |
| exon 3 | c.260G>T | p.(Gly87Val) | G58V | Likely pathogenic | To be validated |
| | 2019-11-08 | 2023-05-05 |
| exon 3 | c.262T>C | p.(Ser88Pro) | S59P | Likely pathogenic | VALIDATED |
| | 2009-10-17 | 2015-07-22 |
| exon 3 | c.265T>C | p.(Phe89Leu) | F60L(264C>G) | Pathogenic | VALIDATED |
| | 2003-05-07 | 2007-02-13 |
| exon 3 | c.265T>G | p.(Phe89Val) | F60V | Likely pathogenic | VALIDATED |
| | 2006-01-23 | |
| exon 3 | c.266T>C | p.(Phe89Ser) | F60S | Likely pathogenic | VALIDATED |
| | 2006-05-12 | 2017-08-11 |
| exon 3 | c.267C>A | p.(Phe89Leu) | F60L(267A>G) | Pathogenic | VALIDATED |
| | 2005-12-12 | 2007-07-03 |
| exon 3 | c.268A>C | p.(Thr90Pro) | T61P | Not classified | To be validated |
| | 2016-12-30 | 2017-04-24 |
| exon 3 | c.269C>T | p.(Thr90Ile) | T61I | Uncertain significance (VUS) | VALIDATED |
| | 2004-08-05 | |
| exon 3 | c.269C>A | p.(Thr90Asn) | T61N | Likely pathogenic | VALIDATED |
| | 2008-08-05 | 2009-04-28 |
| exon 3 | c.281A>T | p.(Asn94Ile) | N65I | Pathogenic | VALIDATED |
| | 2003-04-23 | |
| exon 3 | c.282C>G | p.(Asn94Lys) | N65K | Likely pathogenic | VALIDATED |
| | 2015-07-20 | 2017-08-11 |
| exon 3 | c.283C>T | p.(His95Tyr) | H66Y | Likely pathogenic | PROVISIONAL |
| | 2008-12-22 | 2017-08-11 |
| exon 3 | c.284A>T | p.(His95Leu) | H66L | Likely pathogenic | PROVISIONAL |
| | 2010-02-09 | 2010-02-09 |
| exon 3 | c.284A>C | p.(His95Pro) | H66P | Likely pathogenic | PROVISIONAL |
| | 2013-08-30 | 2017-08-11 |
| exon 3 | c.287T>C | p.(Leu96Pro) | L67P | Likely pathogenic | VALIDATED |
| | 2002-06-25 | |
| exon 3 | c.293_295del | p.(His98_Cys99delinsArg) | H69fs | Likely pathogenic | VALIDATED |
| | 2005-01-11 | 2007-02-13 |
| exon 3 | c.295T>G | p.(Cys99Gly) | C70G | Pathogenic | VALIDATED |
| | 2004-10-25 | |
| exon 3 | c.295T>C | p.(Cys99Arg) | C70R | Pathogenic | VALIDATED |
| | 2002-02-12 | |
| exon 3 | c.295T>A | p.(Cys99Ser) | C70S | Pathogenic | VALIDATED |
| | 2002-12-11 | 2008-08-02 |
| exon 3 | c.296G>A | p.(Cys99Tyr) | C70Y | Pathogenic | VALIDATED |
| | 2002-03-18 | |
| exon 3 | c.304T>C | p.(Cys102Arg) | C73R | Likely pathogenic | VALIDATED |
| | 2002-09-21 | |
| exon 3 | c.305G>A | p.(Cys102Tyr) | C73Y | Likely pathogenic | To be validated |
| | 2019-11-08 | |
| exon 3 | c.306C>G | p.(Cys102Trp) | C73W | Likely pathogenic | VALIDATED |
| | 2003-10-20 | |
| exon 3 | c.308C>G | p.(Ser103Cys) | S74C | Likely pathogenic | VALIDATED |
| | 2007-05-21 | |
| exon 3 | c.314G>A | p.(Cys105Tyr) | C105Y | Likely pathogenic | VALIDATED |
| | 2017-08-18 | 2020-02-27 |
| intron 3 | c.323-32A>G | p.? | 323-32A>G | Likely benign | VALIDATED |
| | 2007-01-06 | |
| exon 4 | c.331C>A | p.(Gln111Lys) | Q82K | Uncertain significance (VUS) | VALIDATED |
| |
2010-07-27 | 2010-07-30 |
| exon 4 | c.332A>G | p.(Gln111Arg) | p.Q111R | Likely pathogenic | To be validated |
| | 2023-02-09 | |
| exon 4 | c.334G>T | p.(Val112Leu) | V83L | Likely pathogenic | PROVISIONAL |
| |
2009-12-19 | 2010-07-30 |
| exon 4 | c.334G>A | p.(Val112Met) | V83M | Likely pathogenic | PROVISIONAL |
| | 2012-07-03 | 2012-07-11 |
| exon 4 | c.343T>C | p.(Ser115Pro) | S86P | Likely pathogenic | VALIDATED |
| | 2002-01-14 | |
| exon 4 | c.347_349delCTT | p.(Ser116del) | S116del | Not classified | To be validated |
| | 2021-04-09 | |
| exon 4 | c.349T>G | p.(Cys117Gly) | C88G | Likely pathogenic | To be validated |
| | 2021-08-02 | 2022-09-27 |
| exon 4 | c.349T>C | p.(Cys117Arg) | C88R | Pathogenic | VALIDATED |
| | 2002-01-02 | |
| exon 4 | c.350_351delinsCA | p.(Cys117Ser) | C88S | Likely pathogenic | VALIDATED |
| | 2011-08-02 | 2013-02-04 |
| exon 4 | c.350G>A | p.(Cys117Tyr) | C88Y | Pathogenic | VALIDATED |
| | 2002-01-02 | |
| exon 4 | c.352A>G | p.(Thr118Ala) | T89A | Uncertain significance (VUS) | PROVISIONAL |
| | 2010-04-06 | |
| exon 4 | c.361C>T | p.(Arg121Trp) | R92W | Likely pathogenic | PROVISIONAL |
| | 2006-04-05 | 2015-11-27 |
| exon 4 | c.362_363insTGCAAGACACAG | p.(Arg121_Asp122insAlaArgHisArg) | R121_D122insARHR | Likely pathogenic | To be validated |
| | 2021-05-27 | 2021-05-27 |
| exon 4 | c.362G>C | p.(Arg121Pro) | R92P | Likely pathogenic | VALIDATED |
| | 2002-01-03 | |
| exon 4 | c.362G>A | p.(Arg121Gln) | R92Q | Uncertain significance (VUS) | VALIDATED |
| | 2002-01-25 | |
| exon 4 | c.364G>C | p.(Asp122His) | D93H | Likely pathogenic | PROVISIONAL |
| | 2013-02-05 | |
| exon 4 | c.366C>G | p.(Asp122Glu) | D93E | Uncertain significance (VUS) | VALIDATED |
| | 2013-05-06 | 2013-05-07 |
| exon 4 | c.369C>T | p.(Thr123=) | T94T | Likely benign | VALIDATED |
| | 2004-12-10 | |
| exon 4 | c.370G>A | p.(Val124Met) | V95M | Likely pathogenic | VALIDATED |
| | 2006-04-13 | |
| exon 4 | c.373T>C | p.(Cys125Arg) | C96R | Likely pathogenic | VALIDATED |
| | 2017-08-16 | |
| exon 4 | c.374G>T | p.(Cys125Phe) | C96F | Pathogenic | VALIDATED |
| | 2012-10-30 | |
| exon 4 | c.374G>A | p.(Cys125Tyr) | C96Y | Pathogenic | VALIDATED |
| | 2002-06-25 | |
| exon 4 | c.375T>G | p.(Cys125Trp) | C96W | Pathogenic | VALIDATED |
| | 2014-09-26 | |
| exon 4 | c.379T>C | p.(Cys127Arg) | C98R | Pathogenic | VALIDATED |
| | 2013-02-05 | |
| exon 4 | c.380G>T | p.(Cys127Phe) | C98F | Likely pathogenic | To be validated |
| | 2020-08-28 | |
| exon 4 | c.380G>A | p.(Cys127Tyr) | C98Y | Pathogenic | VALIDATED |
| | 2003-02-14 | |
| exon 4 | c.390C>G | p.(Asn130Lys) | N101K | Likely pathogenic | PROVISIONAL |
| | 2011-09-02 | 2011-09-02 |
| exon 4 | c.394_399del | p.(Tyr132_Arg133del) | Y103_R104DEL | Likely pathogenic | VALIDATED |
| | 2010-03-18 | 2012-02-09 |
| exon 4 | c.397C>T | p.(Arg133Trp) | R104W | Likely pathogenic | VALIDATED |
| | 2015-03-11 | |
| exon 4 | c.398G>A | p.(Arg133Gln) | R104Q | Uncertain significance (VUS) | VALIDATED |
| | 2004-10-25 | |
| exon 4 | c.401A>C | p.(His134Pro) | H105P | Uncertain significance (VUS) | PROVISIONAL |
| | 2007-07-09 | |
| exon 4 | c.404A>G | p.(Tyr135Cys) | Y106C | Likely pathogenic | PROVISIONAL |
| | 2013-08-27 | |
| exon 4 | c.413A>C | p.(Glu138Ala) | E109A | Likely benign | PROVISIONAL |
| | 2008-02-25 | 2008-02-28 |
| exon 4 | c.421T>A | p.(Phe141Ile) | F112I | Pathogenic | VALIDATED |
| | 2002-06-25 | |
| exon 4 | c.421T>C | p.(Phe141Leu) | F112L | Likely pathogenic | VALIDATED |
| | 2013-02-05 | |
| exon 4 | c.422T>G | p.(Phe141Cys) | F112C | Likely pathogenic | VALIDATED |
| | 2010-08-31 | 2013-02-06 |
| exon 4 | c.422T>C | p.(Phe141Ser) | F112S | Likely pathogenic | VALIDATED |
| | 2012-06-15 | |
| exon 4 | c.427T>C | p.(Cys143Arg) | C114R | Likely pathogenic | VALIDATED |
| | 2017-08-18 | 2019-06-18 |
| exon 4 | c.429C>G | p.(Cys143Trp) | C114W | Likely pathogenic | VALIDATED |
| | 2013-07-03 | 2014-01-06 |
| exon 4 | c.434A>G | p.(Asn145Ser) | N116S | Uncertain significance (VUS) | VALIDATED |
| | 2008-08-05 | 2008-09-08 |
| exon 4 | c.459C>T | p.(Thr153=) | T124T | Likely benign | VALIDATED |
| | 2013-01-24 | 2013-05-07 |
| exon 4 | c.460G>A | p.(Val154Met) | V125M | Likely pathogenic | To be validated |
| | 2019-07-11 | |
| exon 4 | c.463C>T | p.(His155Tyr) | H126T | Not classified | To be validated |
| | 2016-10-13 | 2018-10-02 |
| intron 4 | c.472+1G>A | p.(Cys158delinsTyrGluArgSerSerProGluAlaLysProSerPr | c.472+1G>A | Likely pathogenic | VALIDATED |
| | 2008-04-11 | 2020-08-31 |
| intron 4 | c.472+6C>T | p.? | c.472+6C>T | Likely benign | VALIDATED |
| | 2006-04-13 | |
| intron 4 | c.472+17T>C | p.? | c.472+17T>C | Likely benign | VALIDATED |
| | 2013-05-06 | |
| intron 4 | c.472+64C>T | p.? | c.472+64C>T | Likely benign | VALIDATED |
| | 2006-04-05 | |
| intron 4 | c.473-72G>A | p.? | c.473-72G>A | Likely benign | VALIDATED |
| | 2004-03-11 | |
| intron 4 | c.473-33T>C | p.? | c.473-33C>T | Likely benign | VALIDATED |
| | 2003-04-25 | 2017-08-18 |
| intron 4 | c.473-16G>A | p.? | c.473-16 G>A | Likely benign | VALIDATED |
| | 2004-01-09 | |
| exon 5 | c.482A>G | p.(Lys161Arg) | K132R | Uncertain significance (VUS) | To be validated |
| | 2019-11-08 | 2023-05-05 |
| exon 5 | c.493G>A | p.(Val165Met) | V136M | Uncertain significance (VUS) | To be validated |
| | 2019-07-11 | |
| intron 5 | c.552-89A>T | p.? | c.552-89A>T | Likely benign | VALIDATED |
| | 2005-05-19 | |
| exon 6 | c.558G>A | p.(Lys186=) | K157K | Likely benign | VALIDATED |
| | 2006-03-09 | |
| exon 6 | c.586_612del27 | p.(Leu196_Gly204del) | L167_G175del | Likely pathogenic | VALIDATED |
| | 2006-03-09 | 2017-08-11 |
| exon 6 | c.596T>A | p.(Ile199Asn) | I170N | Likely pathogenic | VALIDATED |
| | 2003-08-18 | 2017-04-27 |
| exon 6 | c.596T>C | p.(Ile199Thr) | I170T | Not classified | To be validated |
| | 2017-07-13 | 2018-10-02 |
| exon 6 | c.605T>A | p.(Val202Asp) | V173D | Likely pathogenic | PROVISIONAL |
| | 2008-01-11 | |
| exon 6 | c.605T>G | p.(Val202Gly) | V173G | Not classified | To be validated |
| | 2020-01-28 | 2023-05-05 |
| exon 6 | c.610G>T | p.(Gly204Cys) | G175C | Likely pathogenic | To be validated |
| | 2019-05-13 | 2023-05-05 |
| intron 6 | c.625+10A>G | p.? | c.625+10A/G | Likely benign | VALIDATED |
| | 2003-07-14 | 2008-05-09 |
| intron 6 | c.625+53C>T | p.? | c.625+53C>T | Likely benign | VALIDATED |
| | 2014-10-03 | 2015-12-07 |
| intron 6 | c.626-33C>T | p.? | c.626-33 | Likely benign | VALIDATED |
| | 2012-02-21 | |
| intron 6 | c.626-32G>T | p.? | c.626-32G>T | Likely benign | VALIDATED |
| | 2010-09-29 | |
| exon 7 | c.677C>G | p.(Ser226Cys) | S197C | Uncertain significance (VUS) | VALIDATED |
| | 2011-10-13 | 2013-02-06 |
| exon 7 | c.678C>G | p.(Ser226=) | S197S | Likely benign | VALIDATED |
| | 2004-11-26 | |
| intron 7 | c.740-9T>C | p.? | c.218-9T>C | Likely benign | VALIDATED |
| | 2003-08-05 | 2007-07-02 |
| intron 8 | c.768+42delA | p.? | c.768+42delA | Likely benign | VALIDATED |
| | 2013-06-06 | |
| intron 8 | c.769-23T>C | p.? | c.769-23T>C | Likely benign | VALIDATED |
| | 2010-07-28 | 2010-08-03 |
| intron 8 | c.769-5T>C | p.? | c.769-5T>C | Likely benign | VALIDATED |
| | 2017-09-05 | |
| exon 9 | c.869G>T | p.(Ser290Ile) | S261I | Not classified | To be validated |
| | 2020-01-28 | 2023-05-05 |
| exon 9 | c.878_895del | p.(Phe293_Thr298del) | F264_T2269del | Not classified | To be validated |
| | 2021-01-11 | 2023-05-05 |
| exon 9 | c.902C>A | p.(Pro301His) | P272H | Uncertain significance (VUS) | To be validated |
| | 2021-10-07 | 2023-05-05 |
| exon 9 | c.935G>A | p.(Arg312Lys) | R283K | Likely benign | To be validated |
| | 2017-02-22 | 2024-04-24 |
| exon 9 | c.988G>A | p.(Ala330Thr) | A330T | Not classified | To be validated |
| | 2020-06-02 | |
| exon 9 | c.1049G>T | p.(Ser350Ile) | S321I | Uncertain significance (VUS) | To be validated |
| | 2019-07-11 | |
| exon 10 | c.1075C>T | p.(Leu359=) | L330L | Likely benign | VALIDATED |
| | 2011-06-10 | |
| exon 10 | c.1080C>G | p.(Tyr360*) | Y331X | Likely pathogenic | PROVISIONAL |
| | 2009-03-30 | 2009-04-03 |
| exon 10 | c.1110C>T | p.(Arg370=) | R341R | Likely benign | VALIDATED |
| | 2013-05-06 | 2013-05-07 |
| exon 10 | c.1181G>A | p.(Arg394His) | R365H | Not classified | To be validated |
| | 2020-06-02 | 2023-05-05 |
| exon 10 | c.1281C>A | p.(Asp427Glu) | D398E | Uncertain significance (VUS) | To be validated |
| | 2022-06-29 | 2023-05-05 |
| exon 10 | c.1321C>A | p.(Leu441Ile) | L412I | Not classified | To be validated |
| | 2020-06-02 | 2023-05-05 |
| exon 10 | c.1343C>T | p.(Pro448Leu) | P419L | Uncertain significance (VUS) | To be validated |
| | 2020-04-02 | 2023-05-05 |
| 3UT | c.*64T>C | p.? | c.*64T>C | Not classified | To be validated |
| | 2020-01-28 | 2020-08-31 |
