| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.149486928_149486987del | CA340988 | IDS | c.1122_1180+1del c.489_547+1del n.229_287+1del c.852_910+1del | |
| X | g.149486958_149486976dup | CA2695236497 | IDS | c.1134_1152dup (p.Asp385ProfsTer7) c.501_519dup (p.Asp174ProfsTer7) n.241_259dup c.864_882dup (p.Asp295ProfsTer7) | |
| X | g.149486971G>A | CA519057557 | IDS | c.1134C>T (p.Phe378=) c.501C>T (p.Phe167=) n.241C>T c.864C>T (p.Phe288=) | |
| X | g.149486971G>C | CA414518762 | IDS | c.1134C>G (p.Phe378Leu) c.501C>G (p.Phe167Leu) n.241C>G c.864C>G (p.Phe288Leu) | |
| X | g.149486971G>T | CA414518763 | IDS | c.1134C>A (p.Phe378Leu) c.501C>A (p.Phe167Leu) n.241C>A c.864C>A (p.Phe288Leu) | |
| X | g.149486971_149486973delinsGAA | CA2465005559 | IDS | c.1132_1134delinsTTC (p.Phe378=) c.499_501delinsTTC (p.Phe167=) n.239_241delinsTTC c.862_864delinsTTC (p.Phe288=) | |
| X | g.149486972A= | CA2465005560 | IDS | c.1133T= (p.Phe378=) c.500T= (p.Phe167=) n.240T= c.863T= (p.Phe288=) | |
| X | g.149486972A>C | CA414518766 | IDS | c.1133T>G (p.Phe378Cys) c.500T>G (p.Phe167Cys) n.240T>G c.863T>G (p.Phe288Cys) | |
| X | g.149486972A>G | CA414518765 | IDS | c.1133T>C (p.Phe378Ser) c.500T>C (p.Phe167Ser) n.240T>C c.863T>C (p.Phe288Ser) | dbSNP |
| X | g.149486972A>T | CA414518764 | IDS | c.1133T>A (p.Phe378Tyr) c.500T>A (p.Phe167Tyr) n.240T>A c.863T>A (p.Phe288Tyr) | |
| X | g.149486974_149486975del | CA356949 | IDS | c.1132_1133del (p.Phe378ProfsTer7) c.499_500del (p.Phe167ProfsTer7) n.239_240del c.862_863del (p.Phe288ProfsTer7) | ClinVar dbSNP |
| X | g.149486973A>C | CA414518767 | IDS | c.1132T>G (p.Phe378Val) c.499T>G (p.Phe167Val) n.239T>G c.862T>G (p.Phe288Val) | |
| X | g.149486973A>G | CA414518768 | IDS | c.1132T>C (p.Phe378Leu) c.499T>C (p.Phe167Leu) n.239T>C c.862T>C (p.Phe288Leu) | |
| X | g.149486973A>T | CA414518769 | IDS | c.1132T>A (p.Phe378Ile) c.499T>A (p.Phe167Ile) n.239T>A c.862T>A (p.Phe288Ile) | |
| X | g.149486974A>C | CA519057558 | IDS | c.1131T>G (p.Leu377=) c.498T>G (p.Leu166=) n.238T>G c.861T>G (p.Leu287=) | |
| X | g.149486974A>G | CA519057559 | IDS | c.1131T>C (p.Leu377=) c.498T>C (p.Leu166=) n.238T>C c.861T>C (p.Leu287=) | |
| X | g.149486974A>T | CA519057560 | IDS | c.1131T>A (p.Leu377=) c.498T>A (p.Leu166=) n.238T>A c.861T>A (p.Leu287=) | |
| X | g.149486975A>C | CA414518770 | IDS | c.1130T>G (p.Leu377Arg) c.497T>G (p.Leu166Arg) n.237T>G c.860T>G (p.Leu287Arg) | |
| X | g.149486975A>G | CA414518771 | IDS | c.1130T>C (p.Leu377Pro) c.497T>C (p.Leu166Pro) n.237T>C c.860T>C (p.Leu287Pro) | |
| X | g.149486975A>T | CA414518772 | IDS | c.1130T>A (p.Leu377His) c.497T>A (p.Leu166His) n.237T>A c.860T>A (p.Leu287His) | |
| X | g.149486975_149486976delinsAG | CA2465005561 | IDS | c.1129_1130delinsCT (p.Leu377=) c.496_497delinsCT (p.Leu166=) n.236_237delinsCT c.859_860delinsCT (p.Leu287=) | |
| X | g.149486976del | CA2465005562 | IDS | c.1129del (p.Leu377PhefsTer14) c.496del (p.Leu166PhefsTer14) n.236del c.859del (p.Leu287PhefsTer14) | ClinVar dbSNP |
| X | g.149486976G>A | CA414518773 | IDS | c.1129C>T (p.Leu377Phe) c.496C>T (p.Leu166Phe) n.236C>T c.859C>T (p.Leu287Phe) | |
| X | g.149486976G>C | CA414518774 | IDS | c.1129C>G (p.Leu377Val) c.496C>G (p.Leu166Val) n.236C>G c.859C>G (p.Leu287Val) | |
| X | g.149486976G>T | CA414518775 | IDS | c.1129C>A (p.Leu377Ile) c.496C>A (p.Leu166Ile) n.236C>A c.859C>A (p.Leu287Ile) | |
| X | g.149486977C>A | CA414518776 | IDS | c.1128G>T (p.Lys376Asn) c.495G>T (p.Lys165Asn) n.235G>T c.858G>T (p.Lys286Asn) | |
| X | g.149486977C= | CA2465005563 | IDS | c.1128G= (p.Lys376=) c.495G= (p.Lys165=) n.235G= c.858G= (p.Lys286=) | |
| X | g.149486977C>G | CA414518777 | IDS | c.1128G>C (p.Lys376Asn) c.495G>C (p.Lys165Asn) n.235G>C c.858G>C (p.Lys286Asn) | |
| X | g.149486977C>T | CA519057561 | IDS | c.1128G>A (p.Lys376=) c.495G>A (p.Lys165=) n.235G>A c.858G>A (p.Lys286=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.149486978T>A | CA414518778 | IDS | c.1127A>T (p.Lys376Met) c.494A>T (p.Lys165Met) n.234A>T c.857A>T (p.Lys286Met) | |
| X | g.149486978T>C | CA414518779 | IDS | c.1127A>G (p.Lys376Arg) c.494A>G (p.Lys165Arg) n.234A>G c.857A>G (p.Lys286Arg) | |
| X | g.149486978T>G | CA10537497 | IDS | c.1127A>C (p.Lys376Thr) c.494A>C (p.Lys165Thr) n.234A>C c.857A>C (p.Lys286Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149486978T= | CA2465005564 | IDS | c.1127A= (p.Lys376=) c.494A= (p.Lys165=) n.234A= c.857A= (p.Lys286=) | |
| X | g.149486979T>A | CA414518782 | IDS | c.1126A>T (p.Lys376Ter) c.493A>T (p.Lys165Ter) n.233A>T c.856A>T (p.Lys286Ter) | |
| X | g.149486979T>C | CA414518780 | IDS | c.1126A>G (p.Lys376Glu) c.493A>G (p.Lys165Glu) n.233A>G c.856A>G (p.Lys286Glu) | |
| X | g.149486979T>G | CA414518781 | IDS | c.1126A>C (p.Lys376Gln) c.493A>C (p.Lys165Gln) n.233A>C c.856A>C (p.Lys286Gln) | |
| X | g.149486980C>A | CA10537498 | IDS | c.1125G>T (p.Glu375Asp) c.492G>T (p.Glu164Asp) n.232G>T c.855G>T (p.Glu285Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149486980C= | CA2465005565 | IDS | c.1125G= (p.Glu375=) c.492G= (p.Glu164=) n.232G= c.855G= (p.Glu285=) | |
| X | g.149486980C>G | CA414518783 | IDS | c.1125G>C (p.Glu375Asp) c.492G>C (p.Glu164Asp) n.232G>C c.855G>C (p.Glu285Asp) | |
| X | g.149486980C>T | CA519057562 | IDS | c.1125G>A (p.Glu375=) c.492G>A (p.Glu164=) n.232G>A c.855G>A (p.Glu285=) | gnomAD v4 |
| X | g.149486981T>A | CA414518784 | IDS | c.1124A>T (p.Glu375Val) c.491A>T (p.Glu164Val) n.231A>T c.854A>T (p.Glu285Val) | |
| X | g.149486981T>C | CA414518785 | IDS | c.1124A>G (p.Glu375Gly) c.491A>G (p.Glu164Gly) n.231A>G c.854A>G (p.Glu285Gly) | gnomAD v4 |
| X | g.149486981T>G | CA414518786 | IDS | c.1124A>C (p.Glu375Ala) c.491A>C (p.Glu164Ala) n.231A>C c.854A>C (p.Glu285Ala) | |
| X | g.149486982C>A | CA414518787 | IDS | c.1123G>T (p.Glu375Ter) c.490G>T (p.Glu164Ter) n.230G>T c.853G>T (p.Glu285Ter) | ClinVar dbSNP |
| X | g.149486982C= | CA2465005566 | IDS | c.1123G= (p.Glu375=) c.490G= (p.Glu164=) n.230G= c.853G= (p.Glu285=) | |
| X | g.149486982C>G | CA414518788 | IDS | c.1123G>C (p.Glu375Gln) c.490G>C (p.Glu164Gln) n.230G>C c.853G>C (p.Glu285Gln) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149486982C>T | CA10537499 | IDS | c.1123G>A (p.Glu375Lys) c.490G>A (p.Glu164Lys) n.230G>A c.853G>A (p.Glu285Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.149486983G>A | CA340989 | IDS | c.1122C>T (p.Gly374=) c.489C>T (p.Gly163=) n.229C>T c.852C>T (p.Gly284=) | ClinVar dbSNP COSMIC |
| X | g.149486983G>C | CA519057563 | IDS | c.1122C>G (p.Gly374=) c.489C>G (p.Gly163=) n.229C>G c.852C>G (p.Gly284=) | |
| X | g.149486983G= | CA2465005567 | IDS | c.1122C= (p.Gly374=) c.489C= (p.Gly163=) n.229C= c.852C= (p.Gly284=) | |
| X | g.149486983G>T | CA519057564 | IDS | c.1122C>A (p.Gly374=) c.489C>A (p.Gly163=) n.229C>A c.852C>A (p.Gly284=) | ClinVar dbSNP gnomAD v4 |
| X | g.149486986_149487004del | CA2695236506 | IDS | c.1104_1122del (p.Ser369ArgfsTer16) c.471_489del (p.Ser158ArgfsTer16) n.211_229del c.834_852del (p.Ser279ArgfsTer16) | |
| X | g.149486984C>A | CA414518789 | IDS | c.1121G>T (p.Gly374Val) c.488G>T (p.Gly163Val) n.228G>T c.851G>T (p.Gly284Val) | ClinVar dbSNP gnomAD v4 |
| X | g.149486984C>G | CA414518790 | IDS | c.1121G>C (p.Gly374Ala) c.488G>C (p.Gly163Ala) n.228G>C c.851G>C (p.Gly284Ala) | |
| X | g.149486984C>T | CA414518791 | IDS | c.1121G>A (p.Gly374Asp) c.488G>A (p.Gly163Asp) n.228G>A c.851G>A (p.Gly284Asp) | |
| X | g.149486985C>A | CA414518792 | IDS | c.1120G>T (p.Gly374Cys) c.487G>T (p.Gly163Cys) n.227G>T c.850G>T (p.Gly284Cys) | |
| X | g.149486985C>G | CA414518794 | IDS | c.1120G>C (p.Gly374Arg) c.487G>C (p.Gly163Arg) n.227G>C c.850G>C (p.Gly284Arg) | |
| X | g.149486985C>T | CA414518793 | IDS | c.1120G>A (p.Gly374Ser) c.487G>A (p.Gly163Ser) n.227G>A c.850G>A (p.Gly284Ser) | |
| X | g.149486986T>A | CA519057565 | IDS | c.1119A>T (p.Ala373=) c.486A>T (p.Ala162=) n.226A>T c.849A>T (p.Ala283=) | |
| X | g.149486986T>C | CA519057567 | IDS | c.1119A>G (p.Ala373=) c.486A>G (p.Ala162=) n.226A>G c.849A>G (p.Ala283=) | |
| X | g.149486986T>G | CA519057566 | IDS | c.1119A>C (p.Ala373=) c.486A>C (p.Ala162=) n.226A>C c.849A>C (p.Ala283=) | |
| X | g.149486987G>A | CA414518795 | IDS | c.1118C>T (p.Ala373Val) c.485C>T (p.Ala162Val) n.225C>T c.848C>T (p.Ala283Val) | |
| X | g.149486987G>C | CA414518796 | IDS | c.1118C>G (p.Ala373Gly) c.485C>G (p.Ala162Gly) n.225C>G c.848C>G (p.Ala283Gly) | |
| X | g.149486987G>T | CA414518797 | IDS | c.1118C>A (p.Ala373Glu) c.485C>A (p.Ala162Glu) n.225C>A c.848C>A (p.Ala283Glu) | |
| X | g.149486988C>A | CA414518798 | IDS | c.1117G>T (p.Ala373Ser) c.484G>T (p.Ala162Ser) n.224G>T c.847G>T (p.Ala283Ser) | |
| X | g.149486988C>G | CA414518799 | IDS | c.1117G>C (p.Ala373Pro) c.484G>C (p.Ala162Pro) n.224G>C c.847G>C (p.Ala283Pro) | |
| X | g.149486988C>T | CA414518800 | IDS | c.1117G>A (p.Ala373Thr) c.484G>A (p.Ala162Thr) n.224G>A c.847G>A (p.Ala283Thr) | |
| X | g.149486989C>A | CA414518801 | IDS | c.1116G>T (p.Glu372Asp) c.483G>T (p.Glu161Asp) n.223G>T c.846G>T (p.Glu282Asp) | |
| X | g.149486989C>G | CA414518802 | IDS | c.1116G>C (p.Glu372Asp) c.483G>C (p.Glu161Asp) n.223G>C c.846G>C (p.Glu282Asp) | |
| X | g.149486989C>T | CA519057568 | IDS | c.1116G>A (p.Glu372=) c.483G>A (p.Glu161=) n.223G>A c.846G>A (p.Glu282=) | |
| X | g.149486990del | CA2499226414 | IDS | c.1115del (p.Glu372GlyfsTer19) c.482del (p.Glu161GlyfsTer19) n.222del c.845del (p.Glu282GlyfsTer19) | ClinVar dbSNP |
| X | g.149486990T>A | CA414518803 | IDS | c.1115A>T (p.Glu372Val) c.482A>T (p.Glu161Val) n.222A>T c.845A>T (p.Glu282Val) | |
| X | g.149486990T>C | CA414518804 | IDS | c.1115A>G (p.Glu372Gly) c.482A>G (p.Glu161Gly) n.222A>G c.845A>G (p.Glu282Gly) | |
| X | g.149486990T>G | CA414518805 | IDS | c.1115A>C (p.Glu372Ala) c.482A>C (p.Glu161Ala) n.222A>C c.845A>C (p.Glu282Ala) | |
| X | g.149486993_149487012del | CA2695236510 | IDS | c.1096_1115del (p.Arg366GlyfsTer13) c.463_482del (p.Arg155GlyfsTer13) n.203_222del c.826_845del (p.Arg276GlyfsTer13) | |
| X | g.149486991C>A | CA414518808 | IDS | c.1114G>T (p.Glu372Ter) c.481G>T (p.Glu161Ter) n.221G>T c.844G>T (p.Glu282Ter) | |
| X | g.149486991C= | CA2465005568 | IDS | c.1114G= (p.Glu372=) c.481G= (p.Glu161=) n.221G= c.844G= (p.Glu282=) | |
| X | g.149486991C>G | CA414518807 | IDS | c.1114G>C (p.Glu372Gln) c.481G>C (p.Glu161Gln) n.221G>C c.844G>C (p.Glu282Gln) | dbSNP |
| X | g.149486991C>T | CA414518806 | IDS | c.1114G>A (p.Glu372Lys) c.481G>A (p.Glu161Lys) n.221G>A c.844G>A (p.Glu282Lys) | |
| X | g.149486992C>A | CA337035859 | IDS | c.1113G>T (p.Pro371=) c.480G>T (p.Pro160=) n.220G>T c.843G>T (p.Pro281=) | ClinVar dbSNP gnomAD v4 |
| X | g.149486992C= | CA2465005569 | IDS | c.1113G= (p.Pro371=) c.480G= (p.Pro160=) n.220G= c.843G= (p.Pro281=) | |
| X | g.149486992C>G | CA519057569 | IDS | c.1113G>C (p.Pro371=) c.480G>C (p.Pro160=) n.220G>C c.843G>C (p.Pro281=) | |
| X | g.149486992C>T | CA10537500 | IDS | c.1113G>A (p.Pro371=) c.480G>A (p.Pro160=) n.220G>A c.843G>A (p.Pro281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149486993G>A | CA10537501 | IDS | c.1112C>T (p.Pro371Leu) c.479C>T (p.Pro160Leu) n.219C>T c.842C>T (p.Pro281Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.149486993G>C | CA414518809 | IDS | c.1112C>G (p.Pro371Arg) c.479C>G (p.Pro160Arg) n.219C>G c.842C>G (p.Pro281Arg) | |
| X | g.149486993G= | CA2465005570 | IDS | c.1112C= (p.Pro371=) c.479C= (p.Pro160=) n.219C= c.842C= (p.Pro281=) | |
| X | g.149486993G>T | CA414518810 | IDS | c.1112C>A (p.Pro371Gln) c.479C>A (p.Pro160Gln) n.219C>A c.842C>A (p.Pro281Gln) | |
| X | g.149486994del | CA2695236512 | IDS | c.1112del (p.Pro371ArgfsTer20) c.479del (p.Pro160ArgfsTer20) n.219del c.842del (p.Pro281ArgfsTer20) | |
| X | g.149486994G>A | CA414518811 | IDS | c.1111C>T (p.Pro371Ser) c.478C>T (p.Pro160Ser) n.218C>T c.841C>T (p.Pro281Ser) | COSMIC |
| X | g.149486994G>C | CA414518812 | IDS | c.1111C>G (p.Pro371Ala) c.478C>G (p.Pro160Ala) n.218C>G c.841C>G (p.Pro281Ala) | COSMIC |
| X | g.149486994G>T | CA414518813 | IDS | c.1111C>A (p.Pro371Thr) c.478C>A (p.Pro160Thr) n.218C>A c.841C>A (p.Pro281Thr) | |
| X | g.149486995A>C | CA519057570 | IDS | c.1110T>G (p.Leu370=) c.477T>G (p.Leu159=) n.217T>G c.840T>G (p.Leu280=) | |
| X | g.149486995A>G | CA519057571 | IDS | c.1110T>C (p.Leu370=) c.477T>C (p.Leu159=) n.217T>C c.840T>C (p.Leu280=) | |
| X | g.149486995A>T | CA519057572 | IDS | c.1110T>A (p.Leu370=) c.477T>A (p.Leu159=) n.217T>A c.840T>A (p.Leu280=) | |
| X | g.149486996A>C | CA414518814 | IDS | c.1109T>G (p.Leu370Arg) c.476T>G (p.Leu159Arg) n.216T>G c.839T>G (p.Leu280Arg) | |
| X | g.149486996A>G | CA414518815 | IDS | c.1109T>C (p.Leu370Pro) c.476T>C (p.Leu159Pro) n.216T>C c.839T>C (p.Leu280Pro) | |
| X | g.149486996A>T | CA414518816 | IDS | c.1109T>A (p.Leu370His) c.476T>A (p.Leu159His) n.216T>A c.839T>A (p.Leu280His) | |
| X | g.149486997G>A | CA414518817 | IDS | c.1108C>T (p.Leu370Phe) c.475C>T (p.Leu159Phe) n.215C>T c.838C>T (p.Leu280Phe) | |
| X | g.149486997G>C | CA414518818 | IDS | c.1108C>G (p.Leu370Val) c.475C>G (p.Leu159Val) n.215C>G c.838C>G (p.Leu280Val) | |
| X | g.149486997G>T | CA414518819 | IDS | c.1108C>A (p.Leu370Ile) c.475C>A (p.Leu159Ile) n.215C>A c.838C>A (p.Leu280Ile) | |
| X | g.149486998T>A | CA519057573 | IDS | c.1107A>T (p.Ser369=) c.474A>T (p.Ser158=) n.214A>T c.837A>T (p.Ser279=) | |
| X | g.149486998T>C | CA519057574 | IDS | c.1107A>G (p.Ser369=) c.474A>G (p.Ser158=) n.214A>G c.837A>G (p.Ser279=) | |
| X | g.149486998T>G | CA519057575 | IDS | c.1107A>C (p.Ser369=) c.474A>C (p.Ser158=) n.214A>C c.837A>C (p.Ser279=) | |
| X | g.149486999G>A | CA414518822 | IDS | c.1106C>T (p.Ser369Leu) c.473C>T (p.Ser158Leu) n.213C>T c.836C>T (p.Ser279Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.149486999G>C | CA414518821 | IDS | c.1106C>G (p.Ser369Ter) c.473C>G (p.Ser158Ter) n.213C>G c.836C>G (p.Ser279Ter) | |
| X | g.149486999G= | CA2465005571 | IDS | c.1106C= (p.Ser369=) c.473C= (p.Ser158=) n.213C= c.836C= (p.Ser279=) | |
| X | g.149486999G>T | CA414518820 | IDS | c.1106C>A (p.Ser369Ter) c.473C>A (p.Ser158Ter) n.213C>A c.836C>A (p.Ser279Ter) | ClinVar dbSNP |
| X | g.149487000A= | CA2465005572 | IDS | c.1105T= (p.Ser369=) c.472T= (p.Ser158=) n.212T= c.835T= (p.Ser279=) | |
| X | g.149487000A>C | CA414518823 | IDS | c.1105T>G (p.Ser369Ala) c.472T>G (p.Ser158Ala) n.212T>G c.835T>G (p.Ser279Ala) | |
| X | g.149487000A>G | CA414518824 | IDS | c.1105T>C (p.Ser369Pro) c.472T>C (p.Ser158Pro) n.212T>C c.835T>C (p.Ser279Pro) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.149487000A>T | CA414518825 | IDS | c.1105T>A (p.Ser369Thr) c.472T>A (p.Ser158Thr) n.212T>A c.835T>A (p.Ser279Thr) | |
| X | g.149487001A>C | CA519057576 | IDS | c.1104T>G (p.Ala368=) c.471T>G (p.Ala157=) n.211T>G c.834T>G (p.Ala278=) | |
| X | g.149487001A>G | CA519057577 | IDS | c.1104T>C (p.Ala368=) c.471T>C (p.Ala157=) n.211T>C c.834T>C (p.Ala278=) | |
| X | g.149487001A>T | CA519057578 | IDS | c.1104T>A (p.Ala368=) c.471T>A (p.Ala157=) n.211T>A c.834T>A (p.Ala278=) | |
| X | g.149487002G>A | CA414518826 | IDS | c.1103C>T (p.Ala368Val) c.470C>T (p.Ala157Val) n.210C>T c.833C>T (p.Ala278Val) | |
| X | g.149487002G>C | CA414518827 | IDS | c.1103C>G (p.Ala368Gly) c.470C>G (p.Ala157Gly) n.210C>G c.833C>G (p.Ala278Gly) | |
| X | g.149487002G>T | CA414518828 | IDS | c.1103C>A (p.Ala368Asp) c.470C>A (p.Ala157Asp) n.210C>A c.833C>A (p.Ala278Asp) | |
| X | g.149487003C>A | CA414518829 | IDS | c.1102G>T (p.Ala368Ser) c.469G>T (p.Ala157Ser) n.209G>T c.832G>T (p.Ala278Ser) | |
| X | g.149487003C>G | CA414518830 | IDS | c.1102G>C (p.Ala368Pro) c.469G>C (p.Ala157Pro) n.209G>C c.832G>C (p.Ala278Pro) | |
| X | g.149487003C>T | CA414518831 | IDS | c.1102G>A (p.Ala368Thr) c.469G>A (p.Ala157Thr) n.209G>A c.832G>A (p.Ala278Thr) | |
| X | g.149487004C>A | CA519057579 | IDS | c.1101G>T (p.Thr367=) c.468G>T (p.Thr156=) n.208G>T c.831G>T (p.Thr277=) | |
| X | g.149487004C>G | CA519057580 | IDS | c.1101G>C (p.Thr367=) c.468G>C (p.Thr156=) n.208G>C c.831G>C (p.Thr277=) | |
| X | g.149487004C>T | CA519057581 | IDS | c.1101G>A (p.Thr367=) c.468G>A (p.Thr156=) n.208G>A c.831G>A (p.Thr277=) | ClinVar gnomAD v4 |
| X | g.149487005G>A | CA10537502 | IDS | c.1100C>T (p.Thr367Met) c.467C>T (p.Thr156Met) n.207C>T c.830C>T (p.Thr277Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149487005G>C | CA414518832 | IDS | c.1100C>G (p.Thr367Arg) c.467C>G (p.Thr156Arg) n.207C>G c.830C>G (p.Thr277Arg) | |
| X | g.149487005G= | CA2465005573 | IDS | c.1100C= (p.Thr367=) c.467C= (p.Thr156=) n.207C= c.830C= (p.Thr277=) | |
| X | g.149487005G>T | CA414518833 | IDS | c.1100C>A (p.Thr367Lys) c.467C>A (p.Thr156Lys) n.207C>A c.830C>A (p.Thr277Lys) | |
| X | g.149487006T>A | CA414518836 | IDS | c.1099A>T (p.Thr367Ser) c.466A>T (p.Thr156Ser) n.206A>T c.829A>T (p.Thr277Ser) | ClinVar dbSNP |
| X | g.149487006T>C | CA414518835 | IDS | c.1099A>G (p.Thr367Ala) c.466A>G (p.Thr156Ala) n.206A>G c.829A>G (p.Thr277Ala) | |
| X | g.149487006T>G | CA414518834 | IDS | c.1099A>C (p.Thr367Pro) c.466A>C (p.Thr156Pro) n.206A>C c.829A>C (p.Thr277Pro) | |
| X | g.149487006T= | CA2465005574 | IDS | c.1099A= (p.Thr367=) c.466A= (p.Thr156=) n.206A= c.829A= (p.Thr277=) | |
| X | g.149487007C>A | CA414518837 | IDS | c.1098G>T (p.Arg366Ser) c.465G>T (p.Arg155Ser) n.205G>T c.828G>T (p.Arg276Ser) | |
| X | g.149487007C>G | CA414518838 | IDS | c.1098G>C (p.Arg366Ser) c.465G>C (p.Arg155Ser) n.205G>C c.828G>C (p.Arg276Ser) | |
| X | g.149487007C>T | CA519057582 | IDS | c.1098G>A (p.Arg366=) c.465G>A (p.Arg155=) n.205G>A c.828G>A (p.Arg276=) | |
| X | g.149487008C>A | CA414518839 | IDS | c.1097G>T (p.Arg366Met) c.464G>T (p.Arg155Met) n.204G>T c.827G>T (p.Arg276Met) | |
| X | g.149487008C>G | CA414518841 | IDS | c.1097G>C (p.Arg366Thr) c.464G>C (p.Arg155Thr) n.204G>C c.827G>C (p.Arg276Thr) | |
| X | g.149487008C>T | CA414518840 | IDS | c.1097G>A (p.Arg366Lys) c.464G>A (p.Arg155Lys) n.204G>A c.827G>A (p.Arg276Lys) | COSMIC |
| X | g.149487009T>A | CA414518842 | IDS | c.1096A>T (p.Arg366Trp) c.463A>T (p.Arg155Trp) n.203A>T c.826A>T (p.Arg276Trp) | |
| X | g.149487009T>C | CA414518843 | IDS | c.1096A>G (p.Arg366Gly) c.463A>G (p.Arg155Gly) n.203A>G c.826A>G (p.Arg276Gly) | |
| X | g.149487009T>G | CA519057583 | IDS | c.1096A>C (p.Arg366=) c.463A>C (p.Arg155=) n.203A>C c.826A>C (p.Arg276=) | |
| X | g.149487010T>A | CA519057584 | IDS | c.1095A>T (p.Gly365=) c.462A>T (p.Gly154=) n.202A>T c.825A>T (p.Gly275=) | |
| X | g.149487010T>C | CA519057585 | IDS | c.1095A>G (p.Gly365=) c.462A>G (p.Gly154=) n.202A>G c.825A>G (p.Gly275=) | |
| X | g.149487010T>G | CA519057586 | IDS | c.1095A>C (p.Gly365=) c.462A>C (p.Gly154=) n.202A>C c.825A>C (p.Gly275=) | |
| X | g.149487011C>A | CA414518844 | IDS | c.1094G>T (p.Gly365Val) c.461G>T (p.Gly154Val) n.201G>T c.824G>T (p.Gly275Val) | COSMIC |
| X | g.149487011C>G | CA414518845 | IDS | c.1094G>C (p.Gly365Ala) c.461G>C (p.Gly154Ala) n.201G>C c.824G>C (p.Gly275Ala) | |
| X | g.149487011C>T | CA414518846 | IDS | c.1094G>A (p.Gly365Glu) c.461G>A (p.Gly154Glu) n.201G>A c.824G>A (p.Gly275Glu) | COSMIC |
| X | g.149487012C>A | CA414518847 | IDS | c.1093G>T (p.Gly365Ter) c.460G>T (p.Gly154Ter) n.200G>T c.823G>T (p.Gly275Ter) | |
| X | g.149487012C= | CA2465005575 | IDS | c.1093G= (p.Gly365=) c.460G= (p.Gly154=) n.200G= c.823G= (p.Gly275=) | |
| X | g.149487012C>G | CA414518848 | IDS | c.1093G>C (p.Gly365Arg) c.460G>C (p.Gly154Arg) n.200G>C c.823G>C (p.Gly275Arg) | |
| X | g.149487012C>T | CA414518849 | IDS | c.1093G>A (p.Gly365Arg) c.460G>A (p.Gly154Arg) n.200G>A c.823G>A (p.Gly275Arg) | dbSNP |
| X | g.149487013A>C | CA519057589 | IDS | c.1092T>G (p.Pro364=) c.459T>G (p.Pro153=) n.199T>G c.822T>G (p.Pro274=) | |
| X | g.149487013A>G | CA519057588 | IDS | c.1092T>C (p.Pro364=) c.459T>C (p.Pro153=) n.199T>C c.822T>C (p.Pro274=) | |
| X | g.149487013A>T | CA519057587 | IDS | c.1092T>A (p.Pro364=) c.459T>A (p.Pro153=) n.199T>A c.822T>A (p.Pro274=) | |
| X | g.149487014G>A | CA414518850 | IDS | c.1091C>T (p.Pro364Leu) c.458C>T (p.Pro153Leu) n.198C>T c.821C>T (p.Pro274Leu) | |
| X | g.149487014G>C | CA414518851 | IDS | c.1091C>G (p.Pro364Arg) c.458C>G (p.Pro153Arg) n.198C>G c.821C>G (p.Pro274Arg) | |
| X | g.149487014G>T | CA414518852 | IDS | c.1091C>A (p.Pro364His) c.458C>A (p.Pro153His) n.198C>A c.821C>A (p.Pro274His) | |
| X | g.149487015G>A | CA414518853 | IDS | c.1090C>T (p.Pro364Ser) c.457C>T (p.Pro153Ser) n.197C>T c.820C>T (p.Pro274Ser) | ClinVar dbSNP |
| X | g.149487015G>C | CA414518854 | IDS | c.1090C>G (p.Pro364Ala) c.457C>G (p.Pro153Ala) n.197C>G c.820C>G (p.Pro274Ala) | ClinVar |
| X | g.149487015G>T | CA414518855 | IDS | c.1090C>A (p.Pro364Thr) c.457C>A (p.Pro153Thr) n.197C>A c.820C>A (p.Pro274Thr) | |
| X | g.149487016A= | CA2465005576 | IDS | c.1089T= (p.Val363=) c.456T= (p.Val152=) n.196T= c.819T= (p.Val273=) | |
| X | g.149487016A>C | CA519057590 | IDS | c.1089T>G (p.Val363=) c.456T>G (p.Val152=) n.196T>G c.819T>G (p.Val273=) | |
| X | g.149487016A>G | CA519057591 | IDS | c.1089T>C (p.Val363=) c.456T>C (p.Val152=) n.196T>C c.819T>C (p.Val273=) | ClinVar dbSNP |
| X | g.149487016A>T | CA519057592 | IDS | c.1089T>A (p.Val363=) c.456T>A (p.Val152=) n.196T>A c.819T>A (p.Val273=) | |
| X | g.149487017A>C | CA414518858 | IDS | c.1088T>G (p.Val363Gly) c.455T>G (p.Val152Gly) n.195T>G c.818T>G (p.Val273Gly) | |
| X | g.149487017A>G | CA414518856 | IDS | c.1088T>C (p.Val363Ala) c.455T>C (p.Val152Ala) n.195T>C c.818T>C (p.Val273Ala) | |
| X | g.149487017A>T | CA414518857 | IDS | c.1088T>A (p.Val363Asp) c.455T>A (p.Val152Asp) n.195T>A c.818T>A (p.Val273Asp) | |
| X | g.149487018C>A | CA414518859 | IDS | c.1087G>T (p.Val363Phe) c.454G>T (p.Val152Phe) n.194G>T c.817G>T (p.Val273Phe) | |
| X | g.149487018C>G | CA414518860 | IDS | c.1087G>C (p.Val363Leu) c.454G>C (p.Val152Leu) n.194G>C c.817G>C (p.Val273Leu) | |
| X | g.149487018C>T | CA414518861 | IDS | c.1087G>A (p.Val363Ile) c.454G>A (p.Val152Ile) n.194G>A c.817G>A (p.Val273Ile) | |
| X | g.149487019A>C | CA414518862 | IDS | c.1086T>G (p.Tyr362Ter) c.453T>G (p.Tyr151Ter) n.193T>G c.816T>G (p.Tyr272Ter) | |
| X | g.149487019A>G | CA519057593 | IDS | c.1086T>C (p.Tyr362=) c.453T>C (p.Tyr151=) n.193T>C c.816T>C (p.Tyr272=) | gnomAD v4 |
| X | g.149487019A>T | CA414518863 | IDS | c.1086T>A (p.Tyr362Ter) c.453T>A (p.Tyr151Ter) n.193T>A c.816T>A (p.Tyr272Ter) | |
| X | g.149487020T>A | CA414518864 | IDS | c.1085A>T (p.Tyr362Phe) c.452A>T (p.Tyr151Phe) n.192A>T c.815A>T (p.Tyr272Phe) | |
| X | g.149487020T>C | CA10537503 | IDS | c.1085A>G (p.Tyr362Cys) c.452A>G (p.Tyr151Cys) n.192A>G c.815A>G (p.Tyr272Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149487020T>G | CA414518865 | IDS | c.1085A>C (p.Tyr362Ser) c.452A>C (p.Tyr151Ser) n.192A>C c.815A>C (p.Tyr272Ser) | |
| X | g.149487020T= | CA2465005577 | IDS | c.1085A= (p.Tyr362=) c.452A= (p.Tyr151=) n.192A= c.815A= (p.Tyr272=) | |
| X | g.149487021A>C | CA414518866 | IDS | c.1084T>G (p.Tyr362Asp) c.451T>G (p.Tyr151Asp) n.191T>G c.814T>G (p.Tyr272Asp) | |
| X | g.149487021A>G | CA414518867 | IDS | c.1084T>C (p.Tyr362His) c.451T>C (p.Tyr151His) n.191T>C c.814T>C (p.Tyr272His) | |
| X | g.149487021A>T | CA414518868 | IDS | c.1084T>A (p.Tyr362Asn) c.451T>A (p.Tyr151Asn) n.191T>A c.814T>A (p.Tyr272Asn) | |
| X | g.149487022G>A | CA519057594 | IDS | c.1083C>T (p.Phe361=) c.450C>T (p.Phe150=) n.190C>T c.813C>T (p.Phe271=) | |
| X | g.149487022G>C | CA414518870 | IDS | c.1083C>G (p.Phe361Leu) c.450C>G (p.Phe150Leu) n.190C>G c.813C>G (p.Phe271Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.149487022G= | CA2465005578 | IDS | c.1083C= (p.Phe361=) c.450C= (p.Phe150=) n.190C= c.813C= (p.Phe271=) | |
| X | g.149487022G>T | CA414518869 | IDS | c.1083C>A (p.Phe361Leu) c.450C>A (p.Phe150Leu) n.190C>A c.813C>A (p.Phe271Leu) | |
| X | g.149487023A>C | CA414518871 | IDS | c.1082T>G (p.Phe361Cys) c.449T>G (p.Phe150Cys) n.189T>G c.812T>G (p.Phe271Cys) | |
| X | g.149487023A>G | CA414518872 | IDS | c.1082T>C (p.Phe361Ser) c.449T>C (p.Phe150Ser) n.189T>C c.812T>C (p.Phe271Ser) | |
| X | g.149487023A>T | CA414518873 | IDS | c.1082T>A (p.Phe361Tyr) c.449T>A (p.Phe150Tyr) n.189T>A c.812T>A (p.Phe271Tyr) | |
| X | g.149487024A= | CA2465005579 | IDS | c.1081T= (p.Phe361=) c.448T= (p.Phe150=) n.188T= c.811T= (p.Phe271=) | |
| X | g.149487024A>C | CA414518874 | IDS | c.1081T>G (p.Phe361Val) c.448T>G (p.Phe150Val) n.188T>G c.811T>G (p.Phe271Val) | |
| X | g.149487024A>G | CA414518875 | IDS | c.1081T>C (p.Phe361Leu) c.448T>C (p.Phe150Leu) n.188T>C c.811T>C (p.Phe271Leu) | dbSNP gnomAD v4 |
| X | g.149487024A>T | CA414518876 | IDS | c.1081T>A (p.Phe361Ile) c.448T>A (p.Phe150Ile) n.188T>A c.811T>A (p.Phe271Ile) | |
| X | g.149487025T>A | CA519057595 | IDS | c.1080A>T (p.Ile360=) c.447A>T (p.Ile149=) n.187A>T c.810A>T (p.Ile270=) | |
| X | g.149487025T>C | CA414518877 | IDS | c.1080A>G (p.Ile360Met) c.447A>G (p.Ile149Met) n.187A>G c.810A>G (p.Ile270Met) | |
| X | g.149487025T>G | CA519057596 | IDS | c.1080A>C (p.Ile360=) c.447A>C (p.Ile149=) n.187A>C c.810A>C (p.Ile270=) | COSMIC |
| X | g.149487025_149487026insTATTCT | CA2573055126 | IDS | c.1080_1081insGAATAA c.447_448insGAATAA n.187_188insGAATAA c.810_811insGAATAA | ClinVar dbSNP |
| X | g.149487026A>C | CA414518878 | IDS | c.1079T>G (p.Ile360Arg) c.446T>G (p.Ile149Arg) n.186T>G c.809T>G (p.Ile270Arg) | |
| X | g.149487026A>G | CA414518879 | IDS | c.1079T>C (p.Ile360Thr) c.446T>C (p.Ile149Thr) n.186T>C c.809T>C (p.Ile270Thr) | |
| X | g.149487026A>T | CA414518880 | IDS | c.1079T>A (p.Ile360Lys) c.446T>A (p.Ile149Lys) n.186T>A c.809T>A (p.Ile270Lys) | |
| X | g.149487027T>A | CA414518881 | IDS | c.1078A>T (p.Ile360Leu) c.445A>T (p.Ile149Leu) n.185A>T c.808A>T (p.Ile270Leu) | |
| X | g.149487027T>C | CA414518882 | IDS | c.1078A>G (p.Ile360Val) c.445A>G (p.Ile149Val) n.185A>G c.808A>G (p.Ile270Val) | dbSNP |
| X | g.149487027T>G | CA414518883 | IDS | c.1078A>C (p.Ile360Leu) c.445A>C (p.Ile149Leu) n.185A>C c.808A>C (p.Ile270Leu) | |
| X | g.149487027T= | CA2465005580 | IDS | c.1078A= (p.Ile360=) c.445A= (p.Ile149=) n.185A= c.808A= (p.Ile270=) | |
| X | g.149487028del | CA2695236514 | IDS | c.1077del (p.Ile360TyrfsTer?) c.444del (p.Ile149TyrfsTer?) n.184del c.807del (p.Ile270TyrfsTer?) | |
| X | g.149487028C>A | CA519057598 | IDS | c.1077G>T (p.Leu359=) c.444G>T (p.Leu148=) n.184G>T c.807G>T (p.Leu269=) | |
| X | g.149487028C= | CA2465005581 | IDS | c.1077G= (p.Leu359=) c.444G= (p.Leu148=) n.184G= c.807G= (p.Leu269=) | |
| X | g.149487028C>G | CA337035860 | IDS | c.1077G>C (p.Leu359=) c.444G>C (p.Leu148=) n.184G>C c.807G>C (p.Leu269=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149487028C>T | CA519057597 | IDS | c.1077G>A (p.Leu359=) c.444G>A (p.Leu148=) n.184G>A c.807G>A (p.Leu269=) | |
| X | g.149487029A>C | CA414518886 | IDS | c.1076T>G (p.Leu359Arg) c.443T>G (p.Leu148Arg) n.183T>G c.806T>G (p.Leu269Arg) | |
| X | g.149487029A>G | CA414518884 | IDS | c.1076T>C (p.Leu359Pro) c.443T>C (p.Leu148Pro) n.183T>C c.806T>C (p.Leu269Pro) | |
| X | g.149487029A>T | CA414518885 | IDS | c.1076T>A (p.Leu359Gln) c.443T>A (p.Leu148Gln) n.183T>A c.806T>A (p.Leu269Gln) | |
| X | g.149487030G>A | CA519057599 | IDS | c.1075C>T (p.Leu359=) c.442C>T (p.Leu148=) n.182C>T c.805C>T (p.Leu269=) | |
| X | g.149487030G>C | CA414518887 | IDS | c.1075C>G (p.Leu359Val) c.442C>G (p.Leu148Val) n.182C>G c.805C>G (p.Leu269Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149487030G= | CA2465005582 | IDS | c.1075C= (p.Leu359=) c.442C= (p.Leu148=) n.182C= c.805C= (p.Leu269=) | |
| X | g.149487030G>T | CA414518888 | IDS | c.1075C>A (p.Leu359Met) c.442C>A (p.Leu148Met) n.182C>A c.805C>A (p.Leu269Met) | |
| X | g.149487033del | CA2695236521 | IDS | c.1075del (p.Leu359Ter) c.442del (p.Leu148Ter) n.182del c.805del (p.Leu269Ter) | |
| X | g.149487031G>A | CA519057600 | IDS | c.1074C>T (p.Pro358=) c.441C>T (p.Pro147=) n.181C>T c.804C>T (p.Pro268=) | |
| X | g.149487031G>C | CA10537504 | IDS | c.1074C>G (p.Pro358=) c.441C>G (p.Pro147=) n.181C>G c.804C>G (p.Pro268=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149487031G= | CA2465005583 | IDS | c.1074C= (p.Pro358=) c.441C= (p.Pro147=) n.181C= c.804C= (p.Pro268=) | |
| X | g.149487031G>T | CA519057601 | IDS | c.1074C>A (p.Pro358=) c.441C>A (p.Pro147=) n.181C>A c.804C>A (p.Pro268=) | |
| X | g.149487032G>A | CA414518889 | IDS | c.1073C>T (p.Pro358Leu) c.440C>T (p.Pro147Leu) n.180C>T c.803C>T (p.Pro268Leu) | dbSNP |
| X | g.149487032G>C | CA414518890 | IDS | c.1073C>G (p.Pro358Arg) c.440C>G (p.Pro147Arg) n.180C>G c.803C>G (p.Pro268Arg) | |
| X | g.149487032G>T | CA414518891 | IDS | c.1073C>A (p.Pro358His) c.440C>A (p.Pro147His) n.180C>A c.803C>A (p.Pro268His) | |
| X | g.149487033G>A | CA414518892 | IDS | c.1072C>T (p.Pro358Ser) c.439C>T (p.Pro147Ser) n.179C>T c.802C>T (p.Pro268Ser) | |
| X | g.149487033G>C | CA414518893 | IDS | c.1072C>G (p.Pro358Ala) c.439C>G (p.Pro147Ala) n.179C>G c.802C>G (p.Pro268Ala) | |
| X | g.149487033G= | CA2465005584 | IDS | c.1072C= (p.Pro358=) c.439C= (p.Pro147=) n.179C= c.802C= (p.Pro268=) | |
| X | g.149487033G>T | CA414518894 | IDS | c.1072C>A (p.Pro358Thr) c.439C>A (p.Pro147Thr) n.179C>A c.802C>A (p.Pro268Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.149487034A>C | CA519057602 | IDS | c.1071T>G (p.Val357=) c.438T>G (p.Val146=) n.178T>G c.801T>G (p.Val267=) | |
| X | g.149487034A>G | CA519057603 | IDS | c.1071T>C (p.Val357=) c.438T>C (p.Val146=) n.178T>C c.801T>C (p.Val267=) | |
| X | g.149487034A>T | CA519057604 | IDS | c.1071T>A (p.Val357=) c.438T>A (p.Val146=) n.178T>A c.801T>A (p.Val267=) | |
| X | g.149487035del | CA2579719142 | IDS | c.1071del (p.Leu359Ter) c.438del (p.Leu148Ter) n.178del c.801del (p.Leu269Ter) | |
| X | g.149487039_149487050del | CA2695236524 | IDS | c.1060_1071del (p.Ala354_Val357del) c.427_438del (p.Ala143_Val146del) n.167_178del c.790_801del (p.Ala264_Val267del) | |
| X | g.149487035A= | CA2465005585 | IDS | c.1070T= (p.Val357=) c.437T= (p.Val146=) n.177T= c.800T= (p.Val267=) | |
| X | g.149487035A>C | CA414518895 | IDS | c.1070T>G (p.Val357Gly) c.437T>G (p.Val146Gly) n.177T>G c.800T>G (p.Val267Gly) | |
| X | g.149487035A>G | CA337035861 | IDS | c.1070T>C (p.Val357Ala) c.437T>C (p.Val146Ala) n.177T>C c.800T>C (p.Val267Ala) | ClinVar dbSNP gnomAD v4 |
| X | g.149487035A>T | CA414518896 | IDS | c.1070T>A (p.Val357Asp) c.437T>A (p.Val146Asp) n.177T>A c.800T>A (p.Val267Asp) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149487036C>A | CA414518899 | IDS | c.1069G>T (p.Val357Phe) c.436G>T (p.Val146Phe) n.176G>T c.799G>T (p.Val267Phe) | |
| X | g.149487036C>G | CA414518898 | IDS | c.1069G>C (p.Val357Leu) c.436G>C (p.Val146Leu) n.176G>C c.799G>C (p.Val267Leu) | |
| X | g.149487036C>T | CA414518897 | IDS | c.1069G>A (p.Val357Ile) c.436G>A (p.Val146Ile) n.176G>A c.799G>A (p.Val267Ile) | |
| X | g.149487037A>C | CA414518901 | IDS | c.1068T>G (p.His356Gln) c.435T>G (p.His145Gln) n.175T>G c.798T>G (p.His266Gln) | |
| X | g.149487037A>G | CA519057605 | IDS | c.1068T>C (p.His356=) c.435T>C (p.His145=) n.175T>C c.798T>C (p.His266=) | |
| X | g.149487037A>T | CA414518900 | IDS | c.1068T>A (p.His356Gln) c.435T>A (p.His145Gln) n.175T>A c.798T>A (p.His266Gln) | |
| X | g.149487038T>A | CA414518902 | IDS | c.1067A>T (p.His356Leu) c.434A>T (p.His145Leu) n.174A>T c.797A>T (p.His266Leu) | gnomAD v4 |
| X | g.149487038T>C | CA10537505 | IDS | c.1067A>G (p.His356Arg) c.434A>G (p.His145Arg) n.174A>G c.797A>G (p.His266Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149487038T>G | CA414518903 | IDS | c.1067A>C (p.His356Pro) c.434A>C (p.His145Pro) n.174A>C c.797A>C (p.His266Pro) | |
| X | g.149487038T= | CA2465005586 | IDS | c.1067A= (p.His356=) c.434A= (p.His145=) n.174A= c.797A= (p.His266=) | |
| X | g.149487039G>A | CA414518904 | IDS | c.1066C>T (p.His356Tyr) c.433C>T (p.His145Tyr) n.173C>T c.796C>T (p.His266Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.149487039G>C | CA414518905 | IDS | c.1066C>G (p.His356Asp) c.433C>G (p.His145Asp) n.173C>G c.796C>G (p.His266Asp) | |
| X | g.149487039G= | CA2465005587 | IDS | c.1066C= (p.His356=) c.433C= (p.His145=) n.173C= c.796C= (p.His266=) | |
| X | g.149487039G>T | CA414518906 | IDS | c.1066C>A (p.His356Asn) c.433C>A (p.His145Asn) n.173C>A c.796C>A (p.His266Asn) | |
| X | g.149487040G>A | CA519057606 | IDS | c.1065C>T (p.Thr355=) c.432C>T (p.Thr144=) n.172C>T c.795C>T (p.Thr265=) | ClinVar |
| X | g.149487040G>C | CA519057607 | IDS | c.1065C>G (p.Thr355=) c.432C>G (p.Thr144=) n.172C>G c.795C>G (p.Thr265=) | |
| X | g.149487040G>T | CA519057608 | IDS | c.1065C>A (p.Thr355=) c.432C>A (p.Thr144=) n.172C>A c.795C>A (p.Thr265=) | |
| X | g.149487041G>A | CA10537506 | IDS | c.1064C>T (p.Thr355Ile) c.431C>T (p.Thr144Ile) n.171C>T c.794C>T (p.Thr265Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149487041G>C | CA414518907 | IDS | c.1064C>G (p.Thr355Ser) c.431C>G (p.Thr144Ser) n.171C>G c.794C>G (p.Thr265Ser) | |
| X | g.149487041G= | CA2465005588 | IDS | c.1064C= (p.Thr355=) c.431C= (p.Thr144=) n.171C= c.794C= (p.Thr265=) | |
| X | g.149487041G>T | CA414518908 | IDS | c.1064C>A (p.Thr355Asn) c.431C>A (p.Thr144Asn) n.171C>A c.794C>A (p.Thr265Asn) | |
| X | g.149487042T>A | CA414518909 | IDS | c.1063A>T (p.Thr355Ser) c.430A>T (p.Thr144Ser) n.170A>T c.793A>T (p.Thr265Ser) | |
| X | g.149487042T>C | CA414518910 | IDS | c.1063A>G (p.Thr355Ala) c.430A>G (p.Thr144Ala) n.170A>G c.793A>G (p.Thr265Ala) | |
| X | g.149487042T>G | CA414518911 | IDS | c.1063A>C (p.Thr355Pro) c.430A>C (p.Thr144Pro) n.170A>C c.793A>C (p.Thr265Pro) | |
| X | g.149487042dup | CA2695236525 | IDS | c.1063dup (p.Thr355AsnfsTer?) c.430dup (p.Thr144AsnfsTer?) n.170dup c.793dup (p.Thr265AsnfsTer?) | |
| X | g.149487043A>C | CA519057609 | IDS | c.1062T>G (p.Ala354=) c.429T>G (p.Ala143=) n.169T>G c.792T>G (p.Ala264=) | |
| X | g.149487043A>G | CA519057610 | IDS | c.1062T>C (p.Ala354=) c.429T>C (p.Ala143=) n.169T>C c.792T>C (p.Ala264=) | |
| X | g.149487043A>T | CA519057611 | IDS | c.1062T>A (p.Ala354=) c.429T>A (p.Ala143=) n.169T>A c.792T>A (p.Ala264=) | |
| X | g.149487044G>A | CA414518914 | IDS | c.1061C>T (p.Ala354Val) c.428C>T (p.Ala143Val) n.168C>T c.791C>T (p.Ala264Val) | |
| X | g.149487044G>C | CA414518913 | IDS | c.1061C>G (p.Ala354Gly) c.428C>G (p.Ala143Gly) n.168C>G c.791C>G (p.Ala264Gly) | |
| X | g.149487044G>T | CA414518912 | IDS | c.1061C>A (p.Ala354Asp) c.428C>A (p.Ala143Asp) n.168C>A c.791C>A (p.Ala264Asp) | |
| X | g.149487045C>A | CA414518915 | IDS | c.1060G>T (p.Ala354Ser) c.427G>T (p.Ala143Ser) n.167G>T c.790G>T (p.Ala264Ser) | |
| X | g.149487045C>G | CA414518916 | IDS | c.1060G>C (p.Ala354Pro) c.427G>C (p.Ala143Pro) n.167G>C c.790G>C (p.Ala264Pro) | |
| X | g.149487045C>T | CA414518917 | IDS | c.1060G>A (p.Ala354Thr) c.427G>A (p.Ala143Thr) n.167G>A c.790G>A (p.Ala264Thr) | |
| X | g.149487046A>C | CA519057612 | IDS | c.1059T>G (p.Val353=) c.426T>G (p.Val142=) n.166T>G c.789T>G (p.Val263=) | |
| X | g.149487046A>G | CA519057613 | IDS | c.1059T>C (p.Val353=) c.426T>C (p.Val142=) n.166T>C c.789T>C (p.Val263=) | |
| X | g.149487046A>T | CA519057614 | IDS | c.1059T>A (p.Val353=) c.426T>A (p.Val142=) n.166T>A c.789T>A (p.Val263=) | |
| X | g.149487047A>C | CA414518918 | IDS | c.1058T>G (p.Val353Gly) c.425T>G (p.Val142Gly) n.165T>G c.788T>G (p.Val263Gly) | |
| X | g.149487047A>G | CA414518919 | IDS | c.1058T>C (p.Val353Ala) c.425T>C (p.Val142Ala) n.165T>C c.788T>C (p.Val263Ala) | |
| X | g.149487047A>T | CA414518920 | IDS | c.1058T>A (p.Val353Asp) c.425T>A (p.Val142Asp) n.165T>A c.788T>A (p.Val263Asp) | gnomAD v4 |
| X | g.149487048C>A | CA414518921 | IDS | c.1057G>T (p.Val353Phe) c.424G>T (p.Val142Phe) n.164G>T c.787G>T (p.Val263Phe) | ClinVar |
| X | g.149487048C>G | CA414518922 | IDS | c.1057G>C (p.Val353Leu) c.424G>C (p.Val142Leu) n.164G>C c.787G>C (p.Val263Leu) | |
| X | g.149487048C>T | CA414518923 | IDS | c.1057G>A (p.Val353Ile) c.424G>A (p.Val142Ile) n.164G>A c.787G>A (p.Val263Ile) | |
| X | g.149487049A>C | CA414518924 | IDS | c.1056T>G (p.Asp352Glu) c.423T>G (p.Asp141Glu) n.163T>G c.786T>G (p.Asp262Glu) | |
| X | g.149487049A>G | CA519057615 | IDS | c.1056T>C (p.Asp352=) c.423T>C (p.Asp141=) n.163T>C c.786T>C (p.Asp262=) | |
| X | g.149487049A>T | CA414518925 | IDS | c.1056T>A (p.Asp352Glu) c.423T>A (p.Asp141Glu) n.163T>A c.786T>A (p.Asp262Glu) | |
| X | g.149487050T>A | CA414518926 | IDS | c.1055A>T (p.Asp352Val) c.422A>T (p.Asp141Val) n.162A>T c.785A>T (p.Asp262Val) | |
| X | g.149487050T>C | CA414518927 | IDS | c.1055A>G (p.Asp352Gly) c.422A>G (p.Asp141Gly) n.162A>G c.785A>G (p.Asp262Gly) | |
| X | g.149487050T>G | CA414518928 | IDS | c.1055A>C (p.Asp352Ala) c.422A>C (p.Asp141Ala) n.162A>C c.785A>C (p.Asp262Ala) | |
| X | g.149487051C>A | CA414518930 | IDS | c.1054G>T (p.Asp352Tyr) c.421G>T (p.Asp141Tyr) n.161G>T c.784G>T (p.Asp262Tyr) | |
| X | g.149487051C>G | CA414518931 | IDS | c.1054G>C (p.Asp352His) c.421G>C (p.Asp141His) n.161G>C c.784G>C (p.Asp262His) | |
| X | g.149487051C>T | CA414518929 | IDS | c.1054G>A (p.Asp352Asn) c.421G>A (p.Asp141Asn) n.161G>A c.784G>A (p.Asp262Asn) | |
| X | g.149487052A>C | CA414518932 | IDS | c.1053T>G (p.Phe351Leu) c.420T>G (p.Phe140Leu) n.160T>G c.783T>G (p.Phe261Leu) | |
| X | g.149487052A>G | CA519057616 | IDS | c.1053T>C (p.Phe351=) c.420T>C (p.Phe140=) n.160T>C c.783T>C (p.Phe261=) | ClinVar dbSNP gnomAD v4 |
| X | g.149487052A>T | CA414518933 | IDS | c.1053T>A (p.Phe351Leu) c.420T>A (p.Phe140Leu) n.160T>A c.783T>A (p.Phe261Leu) | |
| X | g.149487055del | CA2695236527 | IDS | c.1053del (p.Phe351LeufsTer9) c.420del (p.Phe140LeufsTer9) n.160del c.783del (p.Phe261LeufsTer9) | |
| X | g.149487053A>C | CA414518934 | IDS | c.1052T>G (p.Phe351Cys) c.419T>G (p.Phe140Cys) n.159T>G c.782T>G (p.Phe261Cys) | |
| X | g.149487053A>G | CA414518935 | IDS | c.1052T>C (p.Phe351Ser) c.419T>C (p.Phe140Ser) n.159T>C c.782T>C (p.Phe261Ser) | |
| X | g.149487053A>T | CA414518936 | IDS | c.1052T>A (p.Phe351Tyr) c.419T>A (p.Phe140Tyr) n.159T>A c.782T>A (p.Phe261Tyr) | |
| X | g.149487054A>C | CA414518937 | IDS | c.1051T>G (p.Phe351Val) c.418T>G (p.Phe140Val) n.158T>G c.781T>G (p.Phe261Val) | |
| X | g.149487054A>G | CA414518938 | IDS | c.1051T>C (p.Phe351Leu) c.418T>C (p.Phe140Leu) n.158T>C c.781T>C (p.Phe261Leu) | |
| X | g.149487054A>T | CA414518939 | IDS | c.1051T>A (p.Phe351Ile) c.418T>A (p.Phe140Ile) n.158T>A c.781T>A (p.Phe261Ile) | |
| X | g.149487055A>C | CA414518940 | IDS | c.1050T>G (p.Asn350Lys) c.417T>G (p.Asn139Lys) n.157T>G c.780T>G (p.Asn260Lys) | |
| X | g.149487055A>G | CA519057617 | IDS | c.1050T>C (p.Asn350=) c.417T>C (p.Asn139=) n.157T>C c.780T>C (p.Asn260=) | |
| X | g.149487055A>T | CA414518941 | IDS | c.1050T>A (p.Asn350Lys) c.417T>A (p.Asn139Lys) n.157T>A c.780T>A (p.Asn260Lys) | |
| X | g.149487058_149487065del | CA2695236529 | IDS | c.1043_1050del (p.Tyr348PhefsTer2) c.410_417del (p.Tyr137PhefsTer2) n.150_157del c.773_780del (p.Tyr258PhefsTer2) | |
| X | g.149487056T>A | CA414518942 | IDS | c.1049A>T (p.Asn350Ile) c.416A>T (p.Asn139Ile) n.156A>T c.779A>T (p.Asn260Ile) | |
| X | g.149487056T>C | CA414518943 | IDS | c.1049A>G (p.Asn350Ser) c.416A>G (p.Asn139Ser) n.156A>G c.779A>G (p.Asn260Ser) | |
| X | g.149487056T>G | CA414518944 | IDS | c.1049A>C (p.Asn350Thr) c.416A>C (p.Asn139Thr) n.156A>C c.779A>C (p.Asn260Thr) | |
| X | g.149487057del | CA2695236530 | IDS | c.1049del (p.Asn350IlefsTer10) c.416del (p.Asn139IlefsTer10) n.156del c.779del (p.Asn260IlefsTer10) | |
| X | g.149487057T>A | CA414518945 | IDS | c.1048A>T (p.Asn350Tyr) c.415A>T (p.Asn139Tyr) n.155A>T c.778A>T (p.Asn260Tyr) | |
| X | g.149487057T>C | CA414518947 | IDS | c.1048A>G (p.Asn350Asp) c.415A>G (p.Asn139Asp) n.155A>G c.778A>G (p.Asn260Asp) | |
| X | g.149487057T>G | CA414518946 | IDS | c.1048A>C (p.Asn350His) c.415A>C (p.Asn139His) n.155A>C c.778A>C (p.Asn260His) | |
| X | g.149487058G>A | CA10537507 | IDS | c.1047C>T (p.Ser349=) c.414C>T (p.Ser138=) n.154C>T c.777C>T (p.Ser259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149487058G>C | CA414518948 | IDS | c.1047C>G (p.Ser349Arg) c.414C>G (p.Ser138Arg) n.154C>G c.777C>G (p.Ser259Arg) | |
| X | g.149487058G= | CA2465005589 | IDS | c.1047C= (p.Ser349=) c.414C= (p.Ser138=) n.154C= c.777C= (p.Ser259=) | |
| X | g.149487058G>T | CA414518949 | IDS | c.1047C>A (p.Ser349Arg) c.414C>A (p.Ser138Arg) n.154C>A c.777C>A (p.Ser259Arg) | ClinVar dbSNP |
| X | g.149487059C>A | CA414518950 | IDS | c.1046G>T (p.Ser349Ile) c.413G>T (p.Ser138Ile) n.153G>T c.776G>T (p.Ser259Ile) | |
| X | g.149487059C= | CA2465005590 | IDS | c.1046G= (p.Ser349=) c.413G= (p.Ser138=) n.153G= c.776G= (p.Ser259=) | |
| X | g.149487059C>G | CA414518951 | IDS | c.1046G>C (p.Ser349Thr) c.413G>C (p.Ser138Thr) n.153G>C c.776G>C (p.Ser259Thr) | |
| X | g.149487059C>T | CA16621218 | IDS | c.1046G>A (p.Ser349Asn) c.413G>A (p.Ser138Asn) n.153G>A c.776G>A (p.Ser259Asn) | ClinVar dbSNP |
| X | g.149487061_149487100del | CA2739289621 | IDS | c.1007_1046del c.374_413del n.114_153del c.737_776del | |
| X | g.149487060T>A | CA414518952 | IDS | c.1045A>T (p.Ser349Cys) c.412A>T (p.Ser138Cys) n.152A>T c.775A>T (p.Ser259Cys) | |
| X | g.149487060T>C | CA414518953 | IDS | c.1045A>G (p.Ser349Gly) c.412A>G (p.Ser138Gly) n.152A>G c.775A>G (p.Ser259Gly) | |
| X | g.149487060T>G | CA414518954 | IDS | c.1045A>C (p.Ser349Arg) c.412A>C (p.Ser138Arg) n.152A>C c.775A>C (p.Ser259Arg) | |
| X | g.149487061del | CA2695236533 | IDS | c.1044del (p.Tyr348Ter) c.411del (p.Tyr137Ter) n.151del c.774del (p.Tyr258Ter) | |
| X | g.149487061G>A | CA519057618 | IDS | c.1044C>T (p.Tyr348=) c.411C>T (p.Tyr137=) n.151C>T c.774C>T (p.Tyr258=) | ClinVar |
| X | g.149487061G>C | CA414518955 | IDS | c.1044C>G (p.Tyr348Ter) c.411C>G (p.Tyr137Ter) n.151C>G c.774C>G (p.Tyr258Ter) | ClinVar dbSNP |
| X | g.149487061G= | CA2465005591 | IDS | c.1044C= (p.Tyr348=) c.411C= (p.Tyr137=) n.151C= c.774C= (p.Tyr258=) | |
| X | g.149487061G>T | CA414518956 | IDS | c.1044C>A (p.Tyr348Ter) c.411C>A (p.Tyr137Ter) n.151C>A c.774C>A (p.Tyr258Ter) | |
| X | g.149487062T>A | CA414518958 | IDS | c.1043A>T (p.Tyr348Phe) c.410A>T (p.Tyr137Phe) n.150A>T c.773A>T (p.Tyr258Phe) | |
| X | g.149487062T>C | CA414518959 | IDS | c.1043A>G (p.Tyr348Cys) c.410A>G (p.Tyr137Cys) n.150A>G c.773A>G (p.Tyr258Cys) | |
| X | g.149487062T>G | CA414518957 | IDS | c.1043A>C (p.Tyr348Ser) c.410A>C (p.Tyr137Ser) n.150A>C c.773A>C (p.Tyr258Ser) | |
| X | g.149487063A>C | CA414518960 | IDS | c.1042T>G (p.Tyr348Asp) c.409T>G (p.Tyr137Asp) n.149T>G c.772T>G (p.Tyr258Asp) | |
| X | g.149487063A>G | CA414518962 | IDS | c.1042T>C (p.Tyr348His) c.409T>C (p.Tyr137His) n.149T>C c.772T>C (p.Tyr258His) | |
| X | g.149487063A>T | CA414518961 | IDS | c.1042T>A (p.Tyr348Asn) c.409T>A (p.Tyr137Asn) n.149T>A c.772T>A (p.Tyr258Asn) | |
| X | g.149487064T>A | CA414518963 | IDS | c.1041A>T (p.Lys347Asn) c.408A>T (p.Lys136Asn) n.148A>T c.771A>T (p.Lys257Asn) | |
| X | g.149487064T>C | CA519057619 | IDS | c.1041A>G (p.Lys347=) c.408A>G (p.Lys136=) n.148A>G c.771A>G (p.Lys257=) | |
| X | g.149487064T>G | CA414518964 | IDS | c.1041A>C (p.Lys347Asn) c.408A>C (p.Lys136Asn) n.148A>C c.771A>C (p.Lys257Asn) | |
| X | g.149487065T>A | CA414518966 | IDS | c.1040A>T (p.Lys347Ile) c.407A>T (p.Lys136Ile) n.147A>T c.770A>T (p.Lys257Ile) | |
| X | g.149487065T>C | CA414518967 | IDS | c.1040A>G (p.Lys347Arg) c.407A>G (p.Lys136Arg) n.147A>G c.770A>G (p.Lys257Arg) | ClinVar dbSNP |
| X | g.149487065T>G | CA414518968 | IDS | c.1040A>C (p.Lys347Thr) c.407A>C (p.Lys136Thr) n.147A>C c.770A>C (p.Lys257Thr) | COSMIC |
| X | g.149487065T= | CA2465005592 | IDS | c.1040A= (p.Lys347=) c.407A= (p.Lys136=) n.147A= c.770A= (p.Lys257=) | |
| X | g.149487066T>A | CA414518971 | IDS | c.1039A>T (p.Lys347Ter) c.406A>T (p.Lys136Ter) n.146A>T c.769A>T (p.Lys257Ter) | |
| X | g.149487066T>C | CA414518970 | IDS | c.1039A>G (p.Lys347Glu) c.406A>G (p.Lys136Glu) n.146A>G c.769A>G (p.Lys257Glu) | |
| X | g.149487066T>G | CA414518969 | IDS | c.1039A>C (p.Lys347Gln) c.406A>C (p.Lys136Gln) n.146A>C c.769A>C (p.Lys257Gln) | |
| X | g.149487067G>A | CA519057620 | IDS | c.1038C>T (p.Ala346=) c.405C>T (p.Ala135=) n.145C>T c.768C>T (p.Ala256=) | gnomAD v4 |
| X | g.149487067G>C | CA519057621 | IDS | c.1038C>G (p.Ala346=) c.405C>G (p.Ala135=) n.145C>G c.768C>G (p.Ala256=) | |
| X | g.149487067G>T | CA519057622 | IDS | c.1038C>A (p.Ala346=) c.405C>A (p.Ala135=) n.145C>A c.768C>A (p.Ala256=) | gnomAD v3 gnomAD v4 |
| X | g.149487068del | CA2695236534 | IDS | c.1038del (p.Lys347AsnfsTer13) c.405del (p.Lys136AsnfsTer13) n.145del c.768del (p.Lys257AsnfsTer13) | |
| X | g.149487068G>A | CA414518972 | IDS | c.1037C>T (p.Ala346Val) c.404C>T (p.Ala135Val) n.144C>T c.767C>T (p.Ala256Val) | |
| X | g.149487068G>C | CA414518973 | IDS | c.1037C>G (p.Ala346Gly) c.404C>G (p.Ala135Gly) n.144C>G c.767C>G (p.Ala256Gly) | |
| X | g.149487068G>T | CA414518974 | IDS | c.1037C>A (p.Ala346Asp) c.404C>A (p.Ala135Asp) n.144C>A c.767C>A (p.Ala256Asp) | |
| X | g.149487069C>A | CA414518975 | IDS | c.1036G>T (p.Ala346Ser) c.403G>T (p.Ala135Ser) n.143G>T c.766G>T (p.Ala256Ser) | |
| X | g.149487069C>G | CA414518976 | IDS | c.1036G>C (p.Ala346Pro) c.403G>C (p.Ala135Pro) n.143G>C c.766G>C (p.Ala256Pro) | |
| X | g.149487069C>T | CA414518977 | IDS | c.1036G>A (p.Ala346Thr) c.403G>A (p.Ala135Thr) n.143G>A c.766G>A (p.Ala256Thr) | gnomAD v4 |
| X | g.149487071del | CA2695236535 | IDS | c.1036del (p.Ala346ProfsTer14) c.403del (p.Ala135ProfsTer14) n.143del c.766del (p.Ala256ProfsTer14) | |
| X | g.149487070C>A | CA414518978 | IDS | c.1035G>T (p.Trp345Cys) c.402G>T (p.Trp134Cys) n.142G>T c.765G>T (p.Trp255Cys) | ClinVar COSMIC |
| X | g.149487070C>G | CA414518980 | IDS | c.1035G>C (p.Trp345Cys) c.402G>C (p.Trp134Cys) n.142G>C c.765G>C (p.Trp255Cys) | |
| X | g.149487070C>T | CA414518979 | IDS | c.1035G>A (p.Trp345Ter) c.402G>A (p.Trp134Ter) n.142G>A c.765G>A (p.Trp255Ter) | |
| X | g.149487071C>A | CA414518981 | IDS | c.1034G>T (p.Trp345Leu) c.401G>T (p.Trp134Leu) n.141G>T c.764G>T (p.Trp255Leu) | COSMIC |
| X | g.149487071C= | CA2465005593 | IDS | c.1034G= (p.Trp345=) c.401G= (p.Trp134=) n.141G= c.764G= (p.Trp255=) | |
| X | g.149487071C>G | CA414518982 | IDS | c.1034G>C (p.Trp345Ser) c.401G>C (p.Trp134Ser) n.141G>C c.764G>C (p.Trp255Ser) | ClinVar dbSNP |
| X | g.149487071C>T | CA414518983 | IDS | c.1034G>A (p.Trp345Ter) c.401G>A (p.Trp134Ter) n.141G>A c.764G>A (p.Trp255Ter) | |
| X | g.149487072_149487075dup | CA2695236536 | IDS | c.1031_1034dup (p.Trp345Ter) c.398_401dup (p.Trp134Ter) n.138_141dup c.761_764dup (p.Trp255Ter) |