Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50625327C>A | CA412168311 | ARSA | c.1348G>T (p.Ala450Ser) c.1090G>T (p.Ala364Ser) c.180+36G>T c.*81G>T (n.*81G>T) c.1462G>T (p.Ala488Ser) | |
22 | g.50625327C>G | CA412168320 | ARSA | c.1348G>C (p.Ala450Pro) c.1090G>C (p.Ala364Pro) c.180+36G>C c.*81G>C (n.*81G>C) c.1462G>C (p.Ala488Pro) | |
22 | g.50625327C>T | CA412168315 | ARSA | c.1348G>A (p.Ala450Thr) c.1090G>A (p.Ala364Thr) c.180+36G>A c.*81G>A (n.*81G>A) c.1462G>A (p.Ala488Thr) | ClinVar dbSNP |
22 | g.50625330dup | CA913088700 | ARSA | c.1348dup (p.Ala450GlyfsTer?) c.1090dup (p.Ala364GlyfsTer?) c.180+36dup c.*81dup (n.*81dup) c.1462dup (p.Ala488GlyfsTer?) | |
22 | g.50625330del | CA2657590883 | ARSA | c.1348del (p.Ala450ProfsTer9) c.1090del (p.Ala364ProfsTer9) c.180+36del c.*81del (n.*81del) c.1462del (p.Ala488ProfsTer9) | gnomAD v4 |
22 | g.50625328C>A | CA515391311 | ARSA | c.1347G>T (p.Gly449=) c.1089G>T (p.Gly363=) c.180+35G>T c.*80G>T (n.*80G>T) c.1461G>T (p.Gly487=) | ClinVar gnomAD v4 |
22 | g.50625328C= | CA2410958421 | ARSA | c.1347G= (p.Gly449=) c.1089G= (p.Gly363=) c.180+35G= c.*80G= (n.*80G=) c.1461G= (p.Gly487=) | |
22 | g.50625328C>G | CA515391312 | ARSA | c.1347G>C (p.Gly449=) c.1089G>C (p.Gly363=) c.180+35G>C c.*80G>C (n.*80G>C) c.1461G>C (p.Gly487=) | |
22 | g.50625328C>T | CA515391313 | ARSA | c.1347G>A (p.Gly449=) c.1089G>A (p.Gly363=) c.180+35G>A c.*80G>A (n.*80G>A) c.1461G>A (p.Gly487=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625329C>A | CA412168326 | ARSA | c.1346G>T (p.Gly449Val) c.1088G>T (p.Gly363Val) c.180+34G>T c.*79G>T (n.*79G>T) c.1460G>T (p.Gly487Val) | |
22 | g.50625329C>G | CA412168343 | ARSA | c.1346G>C (p.Gly449Ala) c.1088G>C (p.Gly363Ala) c.180+34G>C c.*79G>C (n.*79G>C) c.1460G>C (p.Gly487Ala) | |
22 | g.50625329C>T | CA412168338 | ARSA | c.1346G>A (p.Gly449Glu) c.1088G>A (p.Gly363Glu) c.180+34G>A c.*79G>A (n.*79G>A) c.1460G>A (p.Gly487Glu) | |
22 | g.50625329_50625330insG | CA2695231021 | ARSA | c.1345_1346insC (p.Gly449AlafsTer?) c.1087_1088insC (p.Gly363AlafsTer?) c.180+33_180+34insC c.*78_*79insC (n.*78_*79insC) c.1459_1460insC (p.Gly487AlafsTer?) | |
22 | g.50625330C>A | CA412168351 | ARSA | c.1345G>T (p.Gly449Trp) c.1087G>T (p.Gly363Trp) c.180+33G>T c.*78G>T (n.*78G>T) c.1459G>T (p.Gly487Trp) | |
22 | g.50625330C= | CA2410958422 | ARSA | c.1345G= (p.Gly449=) c.1087G= (p.Gly363=) c.180+33G= c.*78G= (n.*78G=) c.1459G= (p.Gly487=) | |
22 | g.50625330C>G | CA412168356 | ARSA | c.1345G>C (p.Gly449Arg) c.1087G>C (p.Gly363Arg) c.180+33G>C c.*78G>C (n.*78G>C) c.1459G>C (p.Gly487Arg) | |
22 | g.50625330C>T | CA10324740 | ARSA | c.1345G>A (p.Gly449Arg) c.1087G>A (p.Gly363Arg) c.180+33G>A c.*78G>A (n.*78G>A) c.1459G>A (p.Gly487Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625331G>A | CA10324742 | ARSA | c.1344C>T (p.Ala448=) c.1086C>T (p.Ala362=) c.180+32C>T c.*77C>T (n.*77C>T) c.1458C>T (p.Ala486=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625331G>C | CA515391325 | ARSA | c.1344C>G (p.Ala448=) c.1086C>G (p.Ala362=) c.180+32C>G c.*77C>G (n.*77C>G) c.1458C>G (p.Ala486=) | |
22 | g.50625331G= | CA2410958423 | ARSA | c.1344C= (p.Ala448=) c.1086C= (p.Ala362=) c.180+32C= c.*77C= (n.*77C=) c.1458C= (p.Ala486=) | |
22 | g.50625331G>T | CA515391327 | ARSA | c.1344C>A (p.Ala448=) c.1086C>A (p.Ala362=) c.180+32C>A c.*77C>A (n.*77C>A) c.1458C>A (p.Ala486=) | |
22 | g.50625332dup | CA10324741 | ARSA | c.1344dup (p.Gly449ArgfsTer?) c.1086dup (p.Gly363ArgfsTer?) c.180+32dup c.*77dup (n.*77dup) c.1458dup (p.Gly487ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625331_50625332dup | CA2695231022 | ARSA | c.1343_1344dup (p.Gly449ProfsTer11) c.1085_1086dup (p.Gly363ProfsTer11) c.180+31_180+32dup c.*76_*77dup (n.*76_*77dup) c.1457_1458dup (p.Gly487ProfsTer11) | |
22 | g.50625332G>A | CA412168362 | ARSA | c.1343C>T (p.Ala448Val) c.1085C>T (p.Ala362Val) c.180+31C>T c.*76C>T (n.*76C>T) c.1457C>T (p.Ala486Val) | gnomAD v4 |
22 | g.50625332G>C | CA412168366 | ARSA | c.1343C>G (p.Ala448Gly) c.1085C>G (p.Ala362Gly) c.180+31C>G c.*76C>G (n.*76C>G) c.1457C>G (p.Ala486Gly) | |
22 | g.50625332G>T | CA412168368 | ARSA | c.1343C>A (p.Ala448Asp) c.1085C>A (p.Ala362Asp) c.180+31C>A c.*76C>A (n.*76C>A) c.1457C>A (p.Ala486Asp) | |
22 | g.50625333C>A | CA412168371 | ARSA | c.1342G>T (p.Ala448Ser) c.1084G>T (p.Ala362Ser) c.180+30G>T c.*75G>T (n.*75G>T) c.1456G>T (p.Ala486Ser) | gnomAD v4 |
22 | g.50625333C= | CA2410958424 | ARSA | c.1342G= (p.Ala448=) c.1084G= (p.Ala362=) c.180+30G= c.*75G= (n.*75G=) c.1456G= (p.Ala486=) | |
22 | g.50625333C>G | CA412168375 | ARSA | c.1342G>C (p.Ala448Pro) c.1084G>C (p.Ala362Pro) c.180+30G>C c.*75G>C (n.*75G>C) c.1456G>C (p.Ala486Pro) | |
22 | g.50625333C>T | CA412168378 | ARSA | c.1342G>A (p.Ala448Thr) c.1084G>A (p.Ala362Thr) c.180+30G>A c.*75G>A (n.*75G>A) c.1456G>A (p.Ala486Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625334C>A | CA515391330 | ARSA | c.1341G>T (p.Val447=) c.1083G>T (p.Val361=) c.180+29G>T c.*74G>T (n.*74G>T) c.1455G>T (p.Val485=) | |
22 | g.50625334C>G | CA515391331 | ARSA | c.1341G>C (p.Val447=) c.1083G>C (p.Val361=) c.180+29G>C c.*74G>C (n.*74G>C) c.1455G>C (p.Val485=) | gnomAD v4 |
22 | g.50625334C>T | CA515391334 | ARSA | c.1341G>A (p.Val447=) c.1083G>A (p.Val361=) c.180+29G>A c.*74G>A (n.*74G>A) c.1455G>A (p.Val485=) | ClinVar |
22 | g.50625335A>C | CA412168383 | ARSA | c.1340T>G (p.Val447Gly) c.1082T>G (p.Val361Gly) c.180+28T>G c.*73T>G (n.*73T>G) c.1454T>G (p.Val485Gly) | |
22 | g.50625335A>G | CA412168403 | ARSA | c.1340T>C (p.Val447Ala) c.1082T>C (p.Val361Ala) c.180+28T>C c.*73T>C (n.*73T>C) c.1454T>C (p.Val485Ala) | |
22 | g.50625335A>T | CA412168392 | ARSA | c.1340T>A (p.Val447Glu) c.1082T>A (p.Val361Glu) c.180+28T>A c.*73T>A (n.*73T>A) c.1454T>A (p.Val485Glu) | |
22 | g.50625336C>A | CA412168412 | ARSA | c.1339G>T (p.Val447Leu) c.1081G>T (p.Val361Leu) c.180+27G>T c.*72G>T (n.*72G>T) c.1453G>T (p.Val485Leu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625336C= | CA2410958425 | ARSA | c.1339G= (p.Val447=) c.1081G= (p.Val361=) c.180+27G= c.*72G= (n.*72G=) c.1453G= (p.Val485=) | |
22 | g.50625336C>G | CA412168416 | ARSA | c.1339G>C (p.Val447Leu) c.1081G>C (p.Val361Leu) c.180+27G>C c.*72G>C (n.*72G>C) c.1453G>C (p.Val485Leu) | |
22 | g.50625336C>T | CA412168419 | ARSA | c.1339G>A (p.Val447Met) c.1081G>A (p.Val361Met) c.180+27G>A c.*72G>A (n.*72G>A) c.1453G>A (p.Val485Met) | gnomAD v4 |
22 | g.50625337del | CA2577767851 | ARSA | c.1338del (p.Val447TrpfsTer12) c.1080del (p.Val361TrpfsTer12) c.180+26del c.*71del (n.*71del) c.1452del (p.Val485TrpfsTer12) | |
22 | g.50625337A>C | CA515391342 | ARSA | c.1338T>G (p.Gly446=) c.1080T>G (p.Gly360=) c.180+26T>G c.*71T>G (n.*71T>G) c.1452T>G (p.Gly484=) | |
22 | g.50625337A>G | CA515391343 | ARSA | c.1338T>C (p.Gly446=) c.1080T>C (p.Gly360=) c.180+26T>C c.*71T>C (n.*71T>C) c.1452T>C (p.Gly484=) | |
22 | g.50625337A>T | CA515391344 | ARSA | c.1338T>A (p.Gly446=) c.1080T>A (p.Gly360=) c.180+26T>A c.*71T>A (n.*71T>A) c.1452T>A (p.Gly484=) | |
22 | g.50625337_50625338delinsAC | CA2410958426 | ARSA | c.1337_1338delinsGT (p.Gly446=) c.1079_1080delinsGT (p.Gly360=) c.180+25_180+26delinsGT c.*70_*71delinsGT (n.*70_*71delinsGT) c.1451_1452delinsGT (p.Gly484=) | |
22 | g.50625338C>A | CA412168438 | ARSA | c.1337G>T (p.Gly446Val) c.1079G>T (p.Gly360Val) c.180+25G>T c.*70G>T (n.*70G>T) c.1451G>T (p.Gly484Val) | gnomAD v4 |
22 | g.50625338C= | CA2410958427 | ARSA | c.1337G= (p.Gly446=) c.1079G= (p.Gly360=) c.180+25G= c.*70G= (n.*70G=) c.1451G= (p.Gly484=) | |
22 | g.50625338C>G | CA325531215 | ARSA | c.1337G>C (p.Gly446Ala) c.1079G>C (p.Gly360Ala) c.180+25G>C c.*70G>C (n.*70G>C) c.1451G>C (p.Gly484Ala) | dbSNP gnomAD v4 |
22 | g.50625338C>T | CA412168432 | ARSA | c.1337G>A (p.Gly446Asp) c.1079G>A (p.Gly360Asp) c.180+25G>A c.*70G>A (n.*70G>A) c.1451G>A (p.Gly484Asp) | dbSNP gnomAD v4 |
22 | g.50625343dup | CA10324743 | ARSA | c.1337dup (p.Val447CysfsTer?) c.1079dup (p.Val361CysfsTer?) c.180+25dup c.*70dup (n.*70dup) c.1451dup (p.Val485CysfsTer?) | dbSNP ExAC gnomAD v4 |
22 | g.50625343del | CA10324744 | ARSA | c.1337del (p.Gly446ValfsTer13) c.1079del (p.Gly360ValfsTer13) c.180+25del c.*70del (n.*70del) c.1451del (p.Gly484ValfsTer13) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625339C>A | CA412168444 | ARSA | c.1336G>T (p.Gly446Cys) c.1078G>T (p.Gly360Cys) c.180+24G>T c.*69G>T (n.*69G>T) c.1450G>T (p.Gly484Cys) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625339C= | CA2410958428 | ARSA | c.1336G= (p.Gly446=) c.1078G= (p.Gly360=) c.180+24G= c.*69G= (n.*69G=) c.1450G= (p.Gly484=) | |
22 | g.50625339C>G | CA412168450 | ARSA | c.1336G>C (p.Gly446Arg) c.1078G>C (p.Gly360Arg) c.180+24G>C c.*69G>C (n.*69G>C) c.1450G>C (p.Gly484Arg) | gnomAD v4 |
22 | g.50625339C>T | CA412168454 | ARSA | c.1336G>A (p.Gly446Ser) c.1078G>A (p.Gly360Ser) c.180+24G>A c.*69G>A (n.*69G>A) c.1450G>A (p.Gly484Ser) | gnomAD v4 |
22 | g.50625340C>A | CA515391011 | ARSA | c.1335G>T (p.Gly445=) c.1077G>T (p.Gly359=) c.180+23G>T c.*68G>T (n.*68G>T) c.1449G>T (p.Gly483=) | ClinVar dbSNP gnomAD v4 |
22 | g.50625340C= | CA2410958429 | ARSA | c.1335G= (p.Gly445=) c.1077G= (p.Gly359=) c.180+23G= c.*68G= (n.*68G=) c.1449G= (p.Gly483=) | |
22 | g.50625340C>G | CA515391014 | ARSA | c.1335G>C (p.Gly445=) c.1077G>C (p.Gly359=) c.180+23G>C c.*68G>C (n.*68G>C) c.1449G>C (p.Gly483=) | ClinVar |
22 | g.50625340C>T | CA515391015 | ARSA | c.1335G>A (p.Gly445=) c.1077G>A (p.Gly359=) c.180+23G>A c.*68G>A (n.*68G>A) c.1449G>A (p.Gly483=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625341C>A | CA247538 | ARSA | c.1334G>T (p.Gly445Val) c.1076G>T (p.Gly359Val) c.180+22G>T c.*67G>T (n.*67G>T) c.1448G>T (p.Gly483Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625341C= | CA2410958430 | ARSA | c.1334G= (p.Gly445=) c.1076G= (p.Gly359=) c.180+22G= c.*67G= (n.*67G=) c.1448G= (p.Gly483=) | |
22 | g.50625341C>G | CA412168458 | ARSA | c.1334G>C (p.Gly445Ala) c.1076G>C (p.Gly359Ala) c.180+22G>C c.*67G>C (n.*67G>C) c.1448G>C (p.Gly483Ala) | |
22 | g.50625341C>T | CA412168459 | ARSA | c.1334G>A (p.Gly445Glu) c.1076G>A (p.Gly359Glu) c.180+22G>A c.*67G>A (n.*67G>A) c.1448G>A (p.Gly483Glu) | |
22 | g.50625342C>A | CA412168464 | ARSA | c.1333G>T (p.Gly445Trp) c.1075G>T (p.Gly359Trp) c.180+21G>T c.*66G>T (n.*66G>T) c.1447G>T (p.Gly483Trp) | |
22 | g.50625342C>G | CA412168466 | ARSA | c.1333G>C (p.Gly445Arg) c.1075G>C (p.Gly359Arg) c.180+21G>C c.*66G>C (n.*66G>C) c.1447G>C (p.Gly483Arg) | |
22 | g.50625342C>T | CA412168471 | ARSA | c.1333G>A (p.Gly445Arg) c.1075G>A (p.Gly359Arg) c.180+21G>A c.*66G>A (n.*66G>A) c.1447G>A (p.Gly483Arg) | |
22 | g.50625343C>A | CA10324745 | ARSA | c.1332G>T (p.Leu444=) c.1074G>T (p.Leu358=) c.180+20G>T c.*65G>T (n.*65G>T) c.1446G>T (p.Leu482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.50625343C= | CA2410958431 | ARSA | c.1332G= (p.Leu444=) c.1074G= (p.Leu358=) c.180+20G= c.*65G= (n.*65G=) c.1446G= (p.Leu482=) | |
22 | g.50625343C>G | CA515391025 | ARSA | c.1332G>C (p.Leu444=) c.1074G>C (p.Leu358=) c.180+20G>C c.*65G>C (n.*65G>C) c.1446G>C (p.Leu482=) | dbSNP |
22 | g.50625343C>T | CA515391029 | ARSA | c.1332G>A (p.Leu444=) c.1074G>A (p.Leu358=) c.180+20G>A c.*65G>A (n.*65G>A) c.1446G>A (p.Leu482=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625344A>C | CA412168485 | ARSA | c.1331T>G (p.Leu444Arg) c.1073T>G (p.Leu358Arg) c.180+19T>G c.*64T>G (n.*64T>G) c.1445T>G (p.Leu482Arg) | |
22 | g.50625344A>G | CA412168480 | ARSA | c.1331T>C (p.Leu444Pro) c.1073T>C (p.Leu358Pro) c.180+19T>C c.*64T>C (n.*64T>C) c.1445T>C (p.Leu482Pro) | gnomAD v4 |
22 | g.50625344A>T | CA412168483 | ARSA | c.1331T>A (p.Leu444Gln) c.1073T>A (p.Leu358Gln) c.180+19T>A c.*64T>A (n.*64T>A) c.1445T>A (p.Leu482Gln) | |
22 | g.50625345G>A | CA515391040 | ARSA | c.1330C>T (p.Leu444=) c.1072C>T (p.Leu358=) c.180+18C>T c.*63C>T (n.*63C>T) c.1444C>T (p.Leu482=) | ClinVar |
22 | g.50625345G>C | CA412168491 | ARSA | c.1330C>G (p.Leu444Val) c.1072C>G (p.Leu358Val) c.180+18C>G c.*63C>G (n.*63C>G) c.1444C>G (p.Leu482Val) | gnomAD v4 |
22 | g.50625345G>T | CA412168494 | ARSA | c.1330C>A (p.Leu444Met) c.1072C>A (p.Leu358Met) c.180+18C>A c.*63C>A (n.*63C>A) c.1444C>A (p.Leu482Met) | |
22 | g.50625345dup | CA2580100048 | ARSA | c.1330dup (p.Leu444ProfsTer?) c.1072dup (p.Leu358ProfsTer?) c.180+18dup c.*63dup (n.*63dup) c.1444dup (p.Leu482ProfsTer?) | ClinVar |
22 | g.50625346C>A | CA515391041 | ARSA | c.1329G>T (p.Leu443=) c.1071G>T (p.Leu357=) c.180+17G>T c.*62G>T (n.*62G>T) c.1443G>T (p.Leu481=) | ClinVar dbSNP |
22 | g.50625346C= | CA2410958432 | ARSA | c.1329G= (p.Leu443=) c.1071G= (p.Leu357=) c.180+17G= c.*62G= (n.*62G=) c.1443G= (p.Leu481=) | |
22 | g.50625346C>G | CA515391042 | ARSA | c.1329G>C (p.Leu443=) c.1071G>C (p.Leu357=) c.180+17G>C c.*62G>C (n.*62G>C) c.1443G>C (p.Leu481=) | |
22 | g.50625346C>T | CA10324746 | ARSA | c.1329G>A (p.Leu443=) c.1071G>A (p.Leu357=) c.180+17G>A c.*62G>A (n.*62G>A) c.1443G>A (p.Leu481=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625347A= | CA2410958433 | ARSA | c.1328T= (p.Leu443=) c.1070T= (p.Leu357=) c.180+16T= c.*61T= (n.*61T=) c.1442T= (p.Leu481=) | |
22 | g.50625347A>C | CA412168500 | ARSA | c.1328T>G (p.Leu443Arg) c.1070T>G (p.Leu357Arg) c.180+16T>G c.*61T>G (n.*61T>G) c.1442T>G (p.Leu481Arg) | |
22 | g.50625347A>G | CA412168503 | ARSA | c.1328T>C (p.Leu443Pro) c.1070T>C (p.Leu357Pro) c.180+16T>C c.*61T>C (n.*61T>C) c.1442T>C (p.Leu481Pro) | dbSNP gnomAD v2 |
22 | g.50625347A>T | CA412168507 | ARSA | c.1328T>A (p.Leu443Gln) c.1070T>A (p.Leu357Gln) c.180+16T>A c.*61T>A (n.*61T>A) c.1442T>A (p.Leu481Gln) | |
22 | g.50625348G>A | CA515391045 | ARSA | c.1327C>T (p.Leu443=) c.1069C>T (p.Leu357=) c.180+15C>T c.*60C>T (n.*60C>T) c.1441C>T (p.Leu481=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625348G>C | CA412168513 | ARSA | c.1327C>G (p.Leu443Val) c.1069C>G (p.Leu357Val) c.180+15C>G c.*60C>G (n.*60C>G) c.1441C>G (p.Leu481Val) | |
22 | g.50625348G= | CA2410958434 | ARSA | c.1327C= (p.Leu443=) c.1069C= (p.Leu357=) c.180+15C= c.*60C= (n.*60C=) c.1441C= (p.Leu481=) | |
22 | g.50625348G>T | CA412168518 | ARSA | c.1327C>A (p.Leu443Met) c.1069C>A (p.Leu357Met) c.180+15C>A c.*60C>A (n.*60C>A) c.1441C>A (p.Leu481Met) | |
22 | g.50625349G>A | CA515391048 | ARSA | c.1326C>T (p.Asn442=) c.1068C>T (p.Asn356=) c.180+14C>T c.*59C>T (n.*59C>T) c.1440C>T (p.Asn480=) | |
22 | g.50625349G>C | CA412168532 | ARSA | c.1326C>G (p.Asn442Lys) c.1068C>G (p.Asn356Lys) c.180+14C>G c.*59C>G (n.*59C>G) c.1440C>G (p.Asn480Lys) | |
22 | g.50625349G>T | CA412168544 | ARSA | c.1326C>A (p.Asn442Lys) c.1068C>A (p.Asn356Lys) c.180+14C>A c.*59C>A (n.*59C>A) c.1440C>A (p.Asn480Lys) | |
22 | g.50625350T>A | CA412168553 | ARSA | c.1325A>T (p.Asn442Ile) c.1067A>T (p.Asn356Ile) c.180+13A>T c.*58A>T (n.*58A>T) c.1439A>T (p.Asn480Ile) | |
22 | g.50625350T>C | CA10324747 | ARSA | c.1325A>G (p.Asn442Ser) c.1067A>G (p.Asn356Ser) c.180+13A>G c.*58A>G (n.*58A>G) c.1439A>G (p.Asn480Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625350T>G | CA412168549 | ARSA | c.1325A>C (p.Asn442Thr) c.1067A>C (p.Asn356Thr) c.180+13A>C c.*58A>C (n.*58A>C) c.1439A>C (p.Asn480Thr) | |
22 | g.50625350T= | CA2410958435 | ARSA | c.1325A= (p.Asn442=) c.1067A= (p.Asn356=) c.180+13A= c.*58A= (n.*58A=) c.1439A= (p.Asn480=) | |
22 | g.50625351T>A | CA412168561 | ARSA | c.1324A>T (p.Asn442Tyr) c.1066A>T (p.Asn356Tyr) c.180+12A>T c.*57A>T (n.*57A>T) c.1438A>T (p.Asn480Tyr) | gnomAD v4 |
22 | g.50625351T>C | CA412168566 | ARSA | c.1324A>G (p.Asn442Asp) c.1066A>G (p.Asn356Asp) c.180+12A>G c.*57A>G (n.*57A>G) c.1438A>G (p.Asn480Asp) | |
22 | g.50625351T>G | CA412168569 | ARSA | c.1324A>C (p.Asn442His) c.1066A>C (p.Asn356His) c.180+12A>C c.*57A>C (n.*57A>C) c.1438A>C (p.Asn480His) | |
22 | g.50625351_50625352delinsTG | CA2410958436 | ARSA | c.1323_1324delinsCA (p.Tyr441=) c.1065_1066delinsCA (p.Tyr355=) c.180+11_180+12delinsCA c.*56_*57delinsCA (n.*56_*57delinsCA) c.1437_1438delinsCA (p.Tyr479=) | |
22 | g.50625352_50625353del | CA913088701 | ARSA | c.1323_1324del (p.Tyr441Ter) c.1065_1066del (p.Tyr355Ter) c.180+11_180+12del c.*56_*57del (n.*56_*57del) c.1437_1438del (p.Tyr479Ter) | |
22 | g.50625352del | CA658824682 | ARSA | c.1323del (p.Tyr441Ter) c.1065del (p.Tyr355Ter) c.180+11del c.*56del (n.*56del) c.1437del (p.Tyr479Ter) | ClinVar dbSNP |
22 | g.50625352G>A | CA515391057 | ARSA | c.1323C>T (p.Tyr441=) c.1065C>T (p.Tyr355=) c.180+11C>T c.*56C>T (n.*56C>T) c.1437C>T (p.Tyr479=) | |
22 | g.50625352G>C | CA412168576 | ARSA | c.1323C>G (p.Tyr441Ter) c.1065C>G (p.Tyr355Ter) c.180+11C>G c.*56C>G (n.*56C>G) c.1437C>G (p.Tyr479Ter) | |
22 | g.50625352G>T | CA412168579 | ARSA | c.1323C>A (p.Tyr441Ter) c.1065C>A (p.Tyr355Ter) c.180+11C>A c.*56C>A (n.*56C>A) c.1437C>A (p.Tyr479Ter) | |
22 | g.50625353T>A | CA412168590 | ARSA | c.1322A>T (p.Tyr441Phe) c.1064A>T (p.Tyr355Phe) c.180+10A>T c.*55A>T (n.*55A>T) c.1436A>T (p.Tyr479Phe) | |
22 | g.50625353T>C | CA412168585 | ARSA | c.1322A>G (p.Tyr441Cys) c.1064A>G (p.Tyr355Cys) c.180+10A>G c.*55A>G (n.*55A>G) c.1436A>G (p.Tyr479Cys) | |
22 | g.50625353T>G | CA412168587 | ARSA | c.1322A>C (p.Tyr441Ser) c.1064A>C (p.Tyr355Ser) c.180+10A>C c.*55A>C (n.*55A>C) c.1436A>C (p.Tyr479Ser) | |
22 | g.50625354A= | CA2410958437 | ARSA | c.1321T= (p.Tyr441=) c.1063T= (p.Tyr355=) c.180+9T= c.*54T= (n.*54T=) c.1435T= (p.Tyr479=) | |
22 | g.50625354A>C | CA412168597 | ARSA | c.1321T>G (p.Tyr441Asp) c.1063T>G (p.Tyr355Asp) c.180+9T>G c.*54T>G (n.*54T>G) c.1435T>G (p.Tyr479Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625354A>G | CA412168600 | ARSA | c.1321T>C (p.Tyr441His) c.1063T>C (p.Tyr355His) c.180+9T>C c.*54T>C (n.*54T>C) c.1435T>C (p.Tyr479His) | |
22 | g.50625354A>T | CA412168603 | ARSA | c.1321T>A (p.Tyr441Asn) c.1063T>A (p.Tyr355Asn) c.180+9T>A c.*54T>A (n.*54T>A) c.1435T>A (p.Tyr479Asn) | |
22 | g.50625355G>A | CA515391063 | ARSA | c.1320C>T (p.Asn440=) c.1062C>T (p.Asn354=) c.180+8C>T c.*53C>T (n.*53C>T) c.1434C>T (p.Asn478=) | |
22 | g.50625355G>C | CA412168608 | ARSA | c.1320C>G (p.Asn440Lys) c.1062C>G (p.Asn354Lys) c.180+8C>G c.*53C>G (n.*53C>G) c.1434C>G (p.Asn478Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
22 | g.50625355G= | CA2410958438 | ARSA | c.1320C= (p.Asn440=) c.1062C= (p.Asn354=) c.180+8C= c.*53C= (n.*53C=) c.1434C= (p.Asn478=) | |
22 | g.50625355G>T | CA412168613 | ARSA | c.1320C>A (p.Asn440Lys) c.1062C>A (p.Asn354Lys) c.180+8C>A c.*53C>A (n.*53C>A) c.1434C>A (p.Asn478Lys) | |
22 | g.50625356T>A | CA412168617 | ARSA | c.1319A>T (p.Asn440Ile) c.1061A>T (p.Asn354Ile) c.180+7A>T c.*52A>T (n.*52A>T) c.1433A>T (p.Asn478Ile) | |
22 | g.50625356T>C | CA412168622 | ARSA | c.1319A>G (p.Asn440Ser) c.1061A>G (p.Asn354Ser) c.180+7A>G c.*52A>G (n.*52A>G) c.1433A>G (p.Asn478Ser) | |
22 | g.50625356T>G | CA412168621 | ARSA | c.1319A>C (p.Asn440Thr) c.1061A>C (p.Asn354Thr) c.180+7A>C c.*52A>C (n.*52A>C) c.1433A>C (p.Asn478Thr) | |
22 | g.50625357T>A | CA412168626 | ARSA | c.1318A>T (p.Asn440Tyr) c.1060A>T (p.Asn354Tyr) c.180+6A>T c.*51A>T (n.*51A>T) c.1432A>T (p.Asn478Tyr) | |
22 | g.50625357T>C | CA412168633 | ARSA | c.1318A>G (p.Asn440Asp) c.1060A>G (p.Asn354Asp) c.180+6A>G c.*51A>G (n.*51A>G) c.1432A>G (p.Asn478Asp) | |
22 | g.50625357T>G | CA412168630 | ARSA | c.1318A>C (p.Asn440His) c.1060A>C (p.Asn354His) c.180+6A>C c.*51A>C (n.*51A>C) c.1432A>C (p.Asn478His) | |
22 | g.50625358C>A | CA412168634 | ARSA | c.1317G>T (p.Glu439Asp) c.1059G>T (p.Glu353Asp) c.180+5G>T c.*50G>T (n.*50G>T) c.1431G>T (p.Glu477Asp) | |
22 | g.50625358C>G | CA412168635 | ARSA | c.1317G>C (p.Glu439Asp) c.1059G>C (p.Glu353Asp) c.180+5G>C c.*50G>C (n.*50G>C) c.1431G>C (p.Glu477Asp) | |
22 | g.50625358C>T | CA515391076 | ARSA | c.1317G>A (p.Glu439=) c.1059G>A (p.Glu353=) c.180+5G>A c.*50G>A (n.*50G>A) c.1431G>A (p.Glu477=) | ClinVar dbSNP |
22 | g.50625359T>A | CA412168636 | ARSA | c.1316A>T (p.Glu439Val) c.1058A>T (p.Glu353Val) c.180+4A>T c.*49A>T (n.*49A>T) c.1430A>T (p.Glu477Val) | |
22 | g.50625359T>C | CA412168638 | ARSA | c.1316A>G (p.Glu439Gly) c.1058A>G (p.Glu353Gly) c.180+4A>G c.*49A>G (n.*49A>G) c.1430A>G (p.Glu477Gly) | |
22 | g.50625359T>G | CA412168641 | ARSA | c.1316A>C (p.Glu439Ala) c.1058A>C (p.Glu353Ala) c.180+4A>C c.*49A>C (n.*49A>C) c.1430A>C (p.Glu477Ala) | |
22 | g.50625360C>A | CA412168646 | ARSA | c.1315G>T (p.Glu439Ter) c.1057G>T (p.Glu353Ter) c.180+3G>T c.*48G>T (n.*48G>T) c.1429G>T (p.Glu477Ter) | |
22 | g.50625360C>G | CA412168654 | ARSA | c.1315G>C (p.Glu439Gln) c.1057G>C (p.Glu353Gln) c.180+3G>C c.*48G>C (n.*48G>C) c.1429G>C (p.Glu477Gln) | |
22 | g.50625360C>T | CA412168659 | ARSA | c.1315G>A (p.Glu439Lys) c.1057G>A (p.Glu353Lys) c.180+3G>A c.*48G>A (n.*48G>A) c.1429G>A (p.Glu477Lys) | |
22 | g.50625361_50625362del | CA2657590893 | ARSA | c.1314_1315del (p.Asn440LeufsTer?) c.1056_1057del (p.Asn354LeufsTer?) c.180+2_180+3del c.*47_*48del (n.*47_*48del) c.1428_1429del (p.Asn478LeufsTer?) | ClinVar gnomAD v4 |
22 | g.50625361A>C | CA515391084 | ARSA | c.1314T>G (p.Gly438=) c.1056T>G (p.Gly352=) c.180+2T>G c.*47T>G (n.*47T>G) c.1428T>G (p.Gly476=) | gnomAD v4 |
22 | g.50625361A>G | CA515391085 | ARSA | c.1314T>C (p.Gly438=) c.1056T>C (p.Gly352=) c.180+2T>C c.*47T>C (n.*47T>C) c.1428T>C (p.Gly476=) | |
22 | g.50625361A>T | CA515391086 | ARSA | c.1314T>A (p.Gly438=) c.1056T>A (p.Gly352=) c.180+2T>A c.*47T>A (n.*47T>A) c.1428T>A (p.Gly476=) | |
22 | g.50625362C>A | CA10324748 | ARSA | c.1313G>T (p.Gly438Val) c.1055G>T (p.Gly352Val) c.180+1G>T c.*46G>T (n.*46G>T) c.1427G>T (p.Gly476Val) | dbSNP ExAC gnomAD v2 |
22 | g.50625362C= | CA2410958439 | ARSA | c.1313G= (p.Gly438=) c.1055G= (p.Gly352=) c.180+1G= c.*46G= (n.*46G=) c.1427G= (p.Gly476=) | |
22 | g.50625362C>G | CA412168664 | ARSA | c.1313G>C (p.Gly438Ala) c.1055G>C (p.Gly352Ala) c.180+1G>C c.*46G>C (n.*46G>C) c.1427G>C (p.Gly476Ala) | |
22 | g.50625362C>T | CA412168665 | ARSA | c.1313G>A (p.Gly438Asp) c.1055G>A (p.Gly352Asp) c.180+1G>A c.*46G>A (n.*46G>A) c.1427G>A (p.Gly476Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625363C>A | CA412168672 | ARSA | c.1312G>T (p.Gly438Cys) c.1054G>T (p.Gly352Cys) c.180G>T c.*45G>T (n.*45G>T) c.1426G>T (p.Gly476Cys) | |
22 | g.50625363C= | CA2410958440 | ARSA | c.1312G= (p.Gly438=) c.1054G= (p.Gly352=) c.180G= c.*45G= (n.*45G=) c.1426G= (p.Gly476=) | |
22 | g.50625363C>G | CA412168670 | ARSA | c.1312G>C (p.Gly438Arg) c.1054G>C (p.Gly352Arg) c.180G>C c.*45G>C (n.*45G>C) c.1426G>C (p.Gly476Arg) | |
22 | g.50625363C>T | CA10324749 | ARSA | c.1312G>A (p.Gly438Ser) c.1054G>A (p.Gly352Ser) c.180G>A c.*45G>A (n.*45G>A) c.1426G>A (p.Gly476Ser) | dbSNP ExAC gnomAD v2 |
22 | g.50625364A= | CA2410958441 | ARSA | c.1311T= (p.Pro437=) c.1053T= (p.Pro351=) c.179T= c.*44T= (n.*44T=) c.1425T= (p.Pro475=) | |
22 | g.50625364A>C | CA515391092 | ARSA | c.1311T>G (p.Pro437=) c.1053T>G (p.Pro351=) c.179T>G c.*44T>G (n.*44T>G) c.1425T>G (p.Pro475=) | |
22 | g.50625364A>G | CA515391093 | ARSA | c.1311T>C (p.Pro437=) c.1053T>C (p.Pro351=) c.179T>C c.*44T>C (n.*44T>C) c.1425T>C (p.Pro475=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625364A>T | CA515391094 | ARSA | c.1311T>A (p.Pro437=) c.1053T>A (p.Pro351=) c.179T>A c.*44T>A (n.*44T>A) c.1425T>A (p.Pro475=) | |
22 | g.50625365G>A | CA412168676 | ARSA | c.1310C>T (p.Pro437Leu) c.1052C>T (p.Pro351Leu) c.178C>T c.*43C>T (n.*43C>T) c.1424C>T (p.Pro475Leu) | |
22 | g.50625365G>C | CA412168685 | ARSA | c.1310C>G (p.Pro437Arg) c.1052C>G (p.Pro351Arg) c.178C>G c.*43C>G (n.*43C>G) c.1424C>G (p.Pro475Arg) | |
22 | g.50625365G>T | CA412168690 | ARSA | c.1310C>A (p.Pro437His) c.1052C>A (p.Pro351His) c.178C>A c.*43C>A (n.*43C>A) c.1424C>A (p.Pro475His) | |
22 | g.50625366G>A | CA325531219 | ARSA | c.1309C>T (p.Pro437Ser) c.1051C>T (p.Pro351Ser) c.177C>T c.*42C>T (n.*42C>T) c.1423C>T (p.Pro475Ser) | dbSNP gnomAD v4 |
22 | g.50625366G>C | CA412168705 | ARSA | c.1309C>G (p.Pro437Ala) c.1051C>G (p.Pro351Ala) c.177C>G c.*42C>G (n.*42C>G) c.1423C>G (p.Pro475Ala) | |
22 | g.50625366G= | CA2410958442 | ARSA | c.1309C= (p.Pro437=) c.1051C= (p.Pro351=) c.177C= c.*42C= (n.*42C=) c.1423C= (p.Pro475=) | |
22 | g.50625366G>T | CA10324750 | ARSA | c.1309C>A (p.Pro437Thr) c.1051C>A (p.Pro351Thr) c.177C>A c.*42C>A (n.*42C>A) c.1423C>A (p.Pro475Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625367G>A | CA325531221 | ARSA | c.1308C>T (p.Asp436=) c.1050C>T (p.Asp350=) c.176C>T c.*41C>T (n.*41C>T) c.1422C>T (p.Asp474=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625367G>C | CA412168733 | ARSA | c.1308C>G (p.Asp436Glu) c.1050C>G (p.Asp350Glu) c.176C>G c.*41C>G (n.*41C>G) c.1422C>G (p.Asp474Glu) | |
22 | g.50625367G= | CA2410958443 | ARSA | c.1308C= (p.Asp436=) c.1050C= (p.Asp350=) c.176C= c.*41C= (n.*41C=) c.1422C= (p.Asp474=) | |
22 | g.50625367G>T | CA412168736 | ARSA | c.1308C>A (p.Asp436Glu) c.1050C>A (p.Asp350Glu) c.176C>A c.*41C>A (n.*41C>A) c.1422C>A (p.Asp474Glu) | |
22 | g.50625368T>A | CA412168740 | ARSA | c.1307A>T (p.Asp436Val) c.1049A>T (p.Asp350Val) c.175A>T c.*40A>T (n.*40A>T) c.1421A>T (p.Asp474Val) | |
22 | g.50625368T>C | CA412168743 | ARSA | c.1307A>G (p.Asp436Gly) c.1049A>G (p.Asp350Gly) c.175A>G c.*40A>G (n.*40A>G) c.1421A>G (p.Asp474Gly) | ClinVar |
22 | g.50625368T>G | CA412168747 | ARSA | c.1307A>C (p.Asp436Ala) c.1049A>C (p.Asp350Ala) c.175A>C c.*40A>C (n.*40A>C) c.1421A>C (p.Asp474Ala) | |
22 | g.50625369C>A | CA412168755 | ARSA | c.1306G>T (p.Asp436Tyr) c.1048G>T (p.Asp350Tyr) c.174G>T c.*39G>T (n.*39G>T) c.1420G>T (p.Asp474Tyr) | |
22 | g.50625369C= | CA2410958444 | ARSA | c.1306G= (p.Asp436=) c.1048G= (p.Asp350=) c.174G= c.*39G= (n.*39G=) c.1420G= (p.Asp474=) | |
22 | g.50625369C>G | CA412168754 | ARSA | c.1306G>C (p.Asp436His) c.1048G>C (p.Asp350His) c.174G>C c.*39G>C (n.*39G>C) c.1420G>C (p.Asp474His) | |
22 | g.50625369C>T | CA325531222 | ARSA | c.1306G>A (p.Asp436Asn) c.1048G>A (p.Asp350Asn) c.174G>A c.*39G>A (n.*39G>A) c.1420G>A (p.Asp474Asn) | dbSNP |
22 | g.50625370C>A | CA412168756 | ARSA | c.1305G>T (p.Lys435Asn) c.1047G>T (p.Lys349Asn) c.173G>T c.*38G>T (n.*38G>T) c.1419G>T (p.Lys473Asn) | |
22 | g.50625370C>G | CA412168759 | ARSA | c.1305G>C (p.Lys435Asn) c.1047G>C (p.Lys349Asn) c.173G>C c.*38G>C (n.*38G>C) c.1419G>C (p.Lys473Asn) | |
22 | g.50625370C>T | CA515391107 | ARSA | c.1305G>A (p.Lys435=) c.1047G>A (p.Lys349=) c.173G>A c.*38G>A (n.*38G>A) c.1419G>A (p.Lys473=) | ClinVar dbSNP gnomAD v4 |
22 | g.50625371T>A | CA412168763 | ARSA | c.1304A>T (p.Lys435Met) c.1046A>T (p.Lys349Met) c.172A>T c.*37A>T (n.*37A>T) c.1418A>T (p.Lys473Met) | |
22 | g.50625371T>C | CA412168766 | ARSA | c.1304A>G (p.Lys435Arg) c.1046A>G (p.Lys349Arg) c.172A>G c.*37A>G (n.*37A>G) c.1418A>G (p.Lys473Arg) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625371T>G | CA412168778 | ARSA | c.1304A>C (p.Lys435Thr) c.1046A>C (p.Lys349Thr) c.172A>C c.*37A>C (n.*37A>C) c.1418A>C (p.Lys473Thr) | |
22 | g.50625371T= | CA2410958445 | ARSA | c.1304A= (p.Lys435=) c.1046A= (p.Lys349=) c.172A= c.*37A= (n.*37A=) c.1418A= (p.Lys473=) | |
22 | g.50625372T>A | CA412168783 | ARSA | c.1303A>T (p.Lys435Ter) c.1045A>T (p.Lys349Ter) c.171A>T c.*36A>T (n.*36A>T) c.1417A>T (p.Lys473Ter) | |
22 | g.50625372T>C | CA412168788 | ARSA | c.1303A>G (p.Lys435Glu) c.1045A>G (p.Lys349Glu) c.171A>G c.*36A>G (n.*36A>G) c.1417A>G (p.Lys473Glu) | gnomAD v4 |
22 | g.50625372T>G | CA412168792 | ARSA | c.1303A>C (p.Lys435Gln) c.1045A>C (p.Lys349Gln) c.171A>C c.*36A>C (n.*36A>C) c.1417A>C (p.Lys473Gln) | |
22 | g.50625373G>A | CA515391114 | ARSA | c.1302C>T (p.Ser434=) c.1044C>T (p.Ser348=) c.170C>T c.*35C>T (n.*35C>T) c.1416C>T (p.Ser472=) | COSMIC |
22 | g.50625373G>C | CA515391116 | ARSA | c.1302C>G (p.Ser434=) c.1044C>G (p.Ser348=) c.170C>G c.*35C>G (n.*35C>G) c.1416C>G (p.Ser472=) | |
22 | g.50625373G>T | CA515391117 | ARSA | c.1302C>A (p.Ser434=) c.1044C>A (p.Ser348=) c.170C>A c.*35C>A (n.*35C>A) c.1416C>A (p.Ser472=) | |
22 | g.50625374G>A | CA412168796 | ARSA | c.1301C>T (p.Ser434Phe) c.1043C>T (p.Ser348Phe) c.169C>T c.*34C>T (n.*34C>T) c.1415C>T (p.Ser472Phe) | |
22 | g.50625374G>C | CA412168799 | ARSA | c.1301C>G (p.Ser434Cys) c.1043C>G (p.Ser348Cys) c.169C>G c.*34C>G (n.*34C>G) c.1415C>G (p.Ser472Cys) | gnomAD v4 |
22 | g.50625374G>T | CA412168802 | ARSA | c.1301C>A (p.Ser434Tyr) c.1043C>A (p.Ser348Tyr) c.169C>A c.*34C>A (n.*34C>A) c.1415C>A (p.Ser472Tyr) | |
22 | g.50625375A>C | CA412168810 | ARSA | c.1300T>G (p.Ser434Ala) c.1042T>G (p.Ser348Ala) c.168T>G c.*33T>G (n.*33T>G) c.1414T>G (p.Ser472Ala) | |
22 | g.50625375A>G | CA412168808 | ARSA | c.1300T>C (p.Ser434Pro) c.1042T>C (p.Ser348Pro) c.168T>C c.*33T>C (n.*33T>C) c.1414T>C (p.Ser472Pro) | |
22 | g.50625375A>T | CA412168806 | ARSA | c.1300T>A (p.Ser434Thr) c.1042T>A (p.Ser348Thr) c.168T>A c.*33T>A (n.*33T>A) c.1414T>A (p.Ser472Thr) | |
22 | g.50625376C>A | CA515391128 | ARSA | c.1299G>T (p.Leu433=) c.1041G>T (p.Leu347=) c.167G>T c.*32G>T (n.*32G>T) c.1413G>T (p.Leu471=) | |
22 | g.50625376C= | CA2410958446 | ARSA | c.1299G= (p.Leu433=) c.1041G= (p.Leu347=) c.167G= c.*32G= (n.*32G=) c.1413G= (p.Leu471=) | |
22 | g.50625376C>G | CA515391129 | ARSA | c.1299G>C (p.Leu433=) c.1041G>C (p.Leu347=) c.167G>C c.*32G>C (n.*32G>C) c.1413G>C (p.Leu471=) | |
22 | g.50625376C>T | CA515391126 | ARSA | c.1299G>A (p.Leu433=) c.1041G>A (p.Leu347=) c.167G>A c.*32G>A (n.*32G>A) c.1413G>A (p.Leu471=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625377A>C | CA412168813 | ARSA | c.1298T>G (p.Leu433Arg) c.1040T>G (p.Leu347Arg) c.166T>G c.*31T>G (n.*31T>G) c.1412T>G (p.Leu471Arg) | ClinVar dbSNP |
22 | g.50625377A>G | CA412168815 | ARSA | c.1298T>C (p.Leu433Pro) c.1040T>C (p.Leu347Pro) c.166T>C c.*31T>C (n.*31T>C) c.1412T>C (p.Leu471Pro) | |
22 | g.50625377A>T | CA412168817 | ARSA | c.1298T>A (p.Leu433Gln) c.1040T>A (p.Leu347Gln) c.166T>A c.*31T>A (n.*31T>A) c.1412T>A (p.Leu471Gln) | |
22 | g.50625378G>A | CA515391130 | ARSA | c.1297C>T (p.Leu433=) c.1039C>T (p.Leu347=) c.165C>T c.*30C>T (n.*30C>T) c.1411C>T (p.Leu471=) | ClinVar |
22 | g.50625378G>C | CA10324751 | ARSA | c.1297C>G (p.Leu433Val) c.1039C>G (p.Leu347Val) c.165C>G c.*30C>G (n.*30C>G) c.1411C>G (p.Leu471Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625378G= | CA2410958447 | ARSA | c.1297C= (p.Leu433=) c.1039C= (p.Leu347=) c.165C= c.*30C= (n.*30C=) c.1411C= (p.Leu471=) | |
22 | g.50625378G>T | CA412168819 | ARSA | c.1297C>A (p.Leu433Met) c.1039C>A (p.Leu347Met) c.165C>A c.*30C>A (n.*30C>A) c.1411C>A (p.Leu471Met) | |
22 | g.50625379G>A | CA515391132 | ARSA | c.1296C>T (p.Asp432=) c.1038C>T (p.Asp346=) c.164C>T c.*29C>T (n.*29C>T) c.1410C>T (p.Asp470=) | |
22 | g.50625379G>C | CA412168821 | ARSA | c.1296C>G (p.Asp432Glu) c.1038C>G (p.Asp346Glu) c.164C>G c.*29C>G (n.*29C>G) c.1410C>G (p.Asp470Glu) | |
22 | g.50625379G= | CA2410958448 | ARSA | c.1296C= (p.Asp432=) c.1038C= (p.Asp346=) c.164C= c.*29C= (n.*29C=) c.1410C= (p.Asp470=) | |
22 | g.50625379G>T | CA412168824 | ARSA | c.1296C>A (p.Asp432Glu) c.1038C>A (p.Asp346Glu) c.164C>A c.*29C>A (n.*29C>A) c.1410C>A (p.Asp470Glu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625380T>A | CA412168826 | ARSA | c.1295A>T (p.Asp432Val) c.1037A>T (p.Asp346Val) c.163A>T c.*28A>T (n.*28A>T) c.1409A>T (p.Asp470Val) | |
22 | g.50625380T>C | CA412168828 | ARSA | c.1295A>G (p.Asp432Gly) c.1037A>G (p.Asp346Gly) c.163A>G c.*28A>G (n.*28A>G) c.1409A>G (p.Asp470Gly) | |
22 | g.50625380T>G | CA412168829 | ARSA | c.1295A>C (p.Asp432Ala) c.1037A>C (p.Asp346Ala) c.163A>C c.*28A>C (n.*28A>C) c.1409A>C (p.Asp470Ala) | |
22 | g.50625381C>A | CA10324752 | ARSA | c.1294G>T (p.Asp432Tyr) c.1036G>T (p.Asp346Tyr) c.162G>T c.*27G>T (n.*27G>T) c.1408G>T (p.Asp470Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625381C= | CA2410958449 | ARSA | c.1294G= (p.Asp432=) c.1036G= (p.Asp346=) c.162G= c.*27G= (n.*27G=) c.1408G= (p.Asp470=) | |
22 | g.50625381C>G | CA412168831 | ARSA | c.1294G>C (p.Asp432His) c.1036G>C (p.Asp346His) c.162G>C c.*27G>C (n.*27G>C) c.1408G>C (p.Asp470His) | |
22 | g.50625381C>T | CA412168832 | ARSA | c.1294G>A (p.Asp432Asn) c.1036G>A (p.Asp346Asn) c.162G>A c.*27G>A (n.*27G>A) c.1408G>A (p.Asp470Asn) | ClinVar gnomAD v4 |
22 | g.50625382A= | CA2410958450 | ARSA | c.1293T= (p.Tyr431=) c.1035T= (p.Tyr345=) c.161T= c.*26T= (n.*26T=) c.1407T= (p.Tyr469=) | |
22 | g.50625382A>C | CA412168837 | ARSA | c.1293T>G (p.Tyr431Ter) c.1035T>G (p.Tyr345Ter) c.161T>G c.*26T>G (n.*26T>G) c.1407T>G (p.Tyr469Ter) | dbSNP |
22 | g.50625382A>G | CA515391141 | ARSA | c.1293T>C (p.Tyr431=) c.1035T>C (p.Tyr345=) c.161T>C c.*26T>C (n.*26T>C) c.1407T>C (p.Tyr469=) | dbSNP |
22 | g.50625382A>T | CA412168835 | ARSA | c.1293T>A (p.Tyr431Ter) c.1035T>A (p.Tyr345Ter) c.161T>A c.*26T>A (n.*26T>A) c.1407T>A (p.Tyr469Ter) | ClinVar dbSNP |
22 | g.50625383T>A | CA412168839 | ARSA | c.1292A>T (p.Tyr431Phe) c.1034A>T (p.Tyr345Phe) c.160A>T c.*25A>T (n.*25A>T) c.1406A>T (p.Tyr469Phe) | |
22 | g.50625383T>C | CA412168843 | ARSA | c.1292A>G (p.Tyr431Cys) c.1034A>G (p.Tyr345Cys) c.160A>G c.*25A>G (n.*25A>G) c.1406A>G (p.Tyr469Cys) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625383T>G | CA218996 | ARSA | c.1292A>C (p.Tyr431Ser) c.1034A>C (p.Tyr345Ser) c.160A>C c.*25A>C (n.*25A>C) c.1406A>C (p.Tyr469Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625383T= | CA2410958451 | ARSA | c.1292A= (p.Tyr431=) c.1034A= (p.Tyr345=) c.160A= c.*25A= (n.*25A=) c.1406A= (p.Tyr469=) | |
22 | g.50625384A>C | CA412168845 | ARSA | c.1291T>G (p.Tyr431Asp) c.1033T>G (p.Tyr345Asp) c.159T>G c.*24T>G (n.*24T>G) c.1405T>G (p.Tyr469Asp) | |
22 | g.50625384A>G | CA412168847 | ARSA | c.1291T>C (p.Tyr431His) c.1033T>C (p.Tyr345His) c.159T>C c.*24T>C (n.*24T>C) c.1405T>C (p.Tyr469His) | |
22 | g.50625384A>T | CA412168851 | ARSA | c.1291T>A (p.Tyr431Asn) c.1033T>A (p.Tyr345Asn) c.159T>A c.*24T>A (n.*24T>A) c.1405T>A (p.Tyr469Asn) | |
22 | g.50625385G>A | CA515391146 | ARSA | c.1290C>T (p.Leu430=) c.1032C>T (p.Leu344=) c.158C>T c.*23C>T (n.*23C>T) c.1404C>T (p.Leu468=) | ClinVar dbSNP gnomAD v4 |
22 | g.50625385G>C | CA515391148 | ARSA | c.1290C>G (p.Leu430=) c.1032C>G (p.Leu344=) c.158C>G c.*23C>G (n.*23C>G) c.1404C>G (p.Leu468=) | |
22 | g.50625385G>T | CA515391149 | ARSA | c.1290C>A (p.Leu430=) c.1032C>A (p.Leu344=) c.158C>A c.*23C>A (n.*23C>A) c.1404C>A (p.Leu468=) | |
22 | g.50625386A= | CA2410958452 | ARSA | c.1289T= (p.Leu430=) c.1031T= (p.Leu344=) c.157T= c.*22T= (n.*22T=) c.1403T= (p.Leu468=) | |
22 | g.50625386A>C | CA412168855 | ARSA | c.1289T>G (p.Leu430Arg) c.1031T>G (p.Leu344Arg) c.157T>G c.*22T>G (n.*22T>G) c.1403T>G (p.Leu468Arg) | |
22 | g.50625386A>G | CA218994 | ARSA | c.1289T>C (p.Leu430Pro) c.1031T>C (p.Leu344Pro) c.157T>C c.*22T>C (n.*22T>C) c.1403T>C (p.Leu468Pro) | ClinVar dbSNP gnomAD v4 |
22 | g.50625386A>T | CA412168860 | ARSA | c.1289T>A (p.Leu430His) c.1031T>A (p.Leu344His) c.157T>A c.*22T>A (n.*22T>A) c.1403T>A (p.Leu468His) | |
22 | g.50625387G>A | CA10324753 | ARSA | c.1288C>T (p.Leu430Phe) c.1030C>T (p.Leu344Phe) c.156C>T c.*21C>T (n.*21C>T) c.1402C>T (p.Leu468Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625387G>C | CA412168876 | ARSA | c.1288C>G (p.Leu430Val) c.1030C>G (p.Leu344Val) c.156C>G c.*21C>G (n.*21C>G) c.1402C>G (p.Leu468Val) | |
22 | g.50625387G= | CA2410958453 | ARSA | c.1288C= (p.Leu430=) c.1030C= (p.Leu344=) c.156C= c.*21C= (n.*21C=) c.1402C= (p.Leu468=) | |
22 | g.50625387G>T | CA412168871 | ARSA | c.1288C>A (p.Leu430Ile) c.1030C>A (p.Leu344Ile) c.156C>A c.*21C>A (n.*21C>A) c.1402C>A (p.Leu468Ile) | gnomAD v4 |
22 | g.50625388C>A | CA515391157 | ARSA | c.1287G>T (p.Leu429=) c.1029G>T (p.Leu343=) c.155G>T c.*20G>T (n.*20G>T) c.1401G>T (p.Leu467=) | |
22 | g.50625388C= | CA2410958454 | ARSA | c.1287G= (p.Leu429=) c.1029G= (p.Leu343=) c.155G= c.*20G= (n.*20G=) c.1401G= (p.Leu467=) | |
22 | g.50625388C>G | CA515391158 | ARSA | c.1287G>C (p.Leu429=) c.1029G>C (p.Leu343=) c.155G>C c.*20G>C (n.*20G>C) c.1401G>C (p.Leu467=) | |
22 | g.50625388C>T | CA515391161 | ARSA | c.1287G>A (p.Leu429=) c.1029G>A (p.Leu343=) c.155G>A c.*20G>A (n.*20G>A) c.1401G>A (p.Leu467=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625389A= | CA2410958455 | ARSA | c.1286T= (p.Leu429=) c.1028T= (p.Leu343=) c.154T= c.*19T= (n.*19T=) c.1400T= (p.Leu467=) | |
22 | g.50625389A>C | CA412168881 | ARSA | c.1286T>G (p.Leu429Arg) c.1028T>G (p.Leu343Arg) c.154T>G c.*19T>G (n.*19T>G) c.1400T>G (p.Leu467Arg) | |
22 | g.50625389A>G | CA412168882 | ARSA | c.1286T>C (p.Leu429Pro) c.1028T>C (p.Leu343Pro) c.154T>C c.*19T>C (n.*19T>C) c.1400T>C (p.Leu467Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625389A>T | CA412168883 | ARSA | c.1286T>A (p.Leu429Gln) c.1028T>A (p.Leu343Gln) c.154T>A c.*19T>A (n.*19T>A) c.1400T>A (p.Leu467Gln) | |
22 | g.50625390G>A | CA515391170 | ARSA | c.1285C>T (p.Leu429=) c.1027C>T (p.Leu343=) c.153C>T c.*18C>T (n.*18C>T) c.1399C>T (p.Leu467=) | |
22 | g.50625390G>C | CA412168884 | ARSA | c.1285C>G (p.Leu429Val) c.1027C>G (p.Leu343Val) c.153C>G c.*18C>G (n.*18C>G) c.1399C>G (p.Leu467Val) | |
22 | g.50625390G>T | CA412168886 | ARSA | c.1285C>A (p.Leu429Met) c.1027C>A (p.Leu343Met) c.153C>A c.*18C>A (n.*18C>A) c.1399C>A (p.Leu467Met) | |
22 | g.50625391C>A | CA515391171 | ARSA | c.1284G>T (p.Pro428=) c.1026G>T (p.Pro342=) c.152G>T c.*17G>T (n.*17G>T) c.1398G>T (p.Pro466=) | gnomAD v4 |
22 | g.50625391C= | CA2410958456 | ARSA | c.1284G= (p.Pro428=) c.1026G= (p.Pro342=) c.152G= c.*17G= (n.*17G=) c.1398G= (p.Pro466=) | |
22 | g.50625391C>G | CA515391172 | ARSA | c.1284G>C (p.Pro428=) c.1026G>C (p.Pro342=) c.152G>C c.*17G>C (n.*17G>C) c.1398G>C (p.Pro466=) | ClinVar dbSNP |
22 | g.50625391C>T | CA10324754 | ARSA | c.1284G>A (p.Pro428=) c.1026G>A (p.Pro342=) c.152G>A c.*17G>A (n.*17G>A) c.1398G>A (p.Pro466=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625391_50625401delinsGGGGGGGG | CA2695231023 | ARSA | c.1274_1284delinsCCCCCCCC (p.His425_Glu426delinsPro) c.1016_1026delinsCCCCCCCC (p.His339_Glu340delinsPro) c.142_152delinsCCCCCCCC c.*7_*17delinsCCCCCCCC (n.*7_*17delinsCCCCCCCC) c.1388_1398delinsCCCCCCCC (p.His463_Glu464delinsPro) | |
22 | g.50625392G>A | CA115956 | ARSA | c.1283C>T (p.Pro428Leu) c.1025C>T (p.Pro342Leu) c.151C>T c.*16C>T (n.*16C>T) c.1397C>T (p.Pro466Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625392G>C | CA412168897 | ARSA | c.1283C>G (p.Pro428Arg) c.1025C>G (p.Pro342Arg) c.151C>G c.*16C>G (n.*16C>G) c.1397C>G (p.Pro466Arg) | |
22 | g.50625392G= | CA2410958457 | ARSA | c.1283C= (p.Pro428=) c.1025C= (p.Pro342=) c.151C= c.*16C= (n.*16C=) c.1397C= (p.Pro466=) | |
22 | g.50625392G>T | CA412168895 | ARSA | c.1283C>A (p.Pro428Gln) c.1025C>A (p.Pro342Gln) c.151C>A c.*16C>A (n.*16C>A) c.1397C>A (p.Pro466Gln) | gnomAD v4 |
22 | g.50625395_50625396dup | CA2580100053 | ARSA | c.1282_1283dup (p.Leu429ArgfsTer?) c.1024_1025dup (p.Leu343ArgfsTer?) c.150_151dup c.*15_*16dup (n.*15_*16dup) c.1396_1397dup (p.Leu467ArgfsTer?) | ClinVar |
22 | g.50625393G>A | CA412168900 | ARSA | c.1282C>T (p.Pro428Ser) c.1024C>T (p.Pro342Ser) c.150C>T c.*15C>T (n.*15C>T) c.1396C>T (p.Pro466Ser) | ClinVar |
22 | g.50625393G>C | CA412168904 | ARSA | c.1282C>G (p.Pro428Ala) c.1024C>G (p.Pro342Ala) c.150C>G c.*15C>G (n.*15C>G) c.1396C>G (p.Pro466Ala) | ClinVar dbSNP |
22 | g.50625393G>T | CA412168907 | ARSA | c.1282C>A (p.Pro428Thr) c.1024C>A (p.Pro342Thr) c.150C>A c.*15C>A (n.*15C>A) c.1396C>A (p.Pro466Thr) | |
22 | g.50625394G>A | CA515391183 | ARSA | c.1281C>T (p.Pro427=) c.1023C>T (p.Pro341=) c.149C>T c.*14C>T (n.*14C>T) c.1395C>T (p.Pro465=) | gnomAD v4 |
22 | g.50625394G>C | CA515391184 | ARSA | c.1281C>G (p.Pro427=) c.1023C>G (p.Pro341=) c.149C>G c.*14C>G (n.*14C>G) c.1395C>G (p.Pro465=) | |
22 | g.50625394G>T | CA515391186 | ARSA | c.1281C>A (p.Pro427=) c.1023C>A (p.Pro341=) c.149C>A c.*14C>A (n.*14C>A) c.1395C>A (p.Pro465=) | |
22 | g.50625395G>A | CA412168911 | ARSA | c.1280C>T (p.Pro427Leu) c.1022C>T (p.Pro341Leu) c.148C>T c.*13C>T (n.*13C>T) c.1394C>T (p.Pro465Leu) | ClinVar gnomAD v4 |
22 | g.50625395G>C | CA412168913 | ARSA | c.1280C>G (p.Pro427Arg) c.1022C>G (p.Pro341Arg) c.148C>G c.*13C>G (n.*13C>G) c.1394C>G (p.Pro465Arg) | |
22 | g.50625395G>T | CA412168915 | ARSA | c.1280C>A (p.Pro427His) c.1022C>A (p.Pro341His) c.148C>A c.*13C>A (n.*13C>A) c.1394C>A (p.Pro465His) | |
22 | g.50625396G>A | CA412168917 | ARSA | c.1279C>T (p.Pro427Ser) c.1021C>T (p.Pro341Ser) c.147C>T c.*12C>T (n.*12C>T) c.1393C>T (p.Pro465Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625396G>C | CA412168919 | ARSA | c.1279C>G (p.Pro427Ala) c.1021C>G (p.Pro341Ala) c.147C>G c.*12C>G (n.*12C>G) c.1393C>G (p.Pro465Ala) | |
22 | g.50625396G= | CA2410958458 | ARSA | c.1279C= (p.Pro427=) c.1021C= (p.Pro341=) c.147C= c.*12C= (n.*12C=) c.1393C= (p.Pro465=) | |
22 | g.50625396G>T | CA116013 | ARSA | c.1279C>A (p.Pro427Thr) c.1021C>A (p.Pro341Thr) c.147C>A c.*12C>A (n.*12C>A) c.1393C>A (p.Pro465Thr) | ClinVar dbSNP gnomAD v4 |
22 | g.50625397del | CA2580100055 | ARSA | c.1278del (p.Glu426AspfsTer?) c.1020del (p.Glu340AspfsTer?) c.146del c.*11del (n.*11del) c.1392del (p.Glu464AspfsTer?) | ClinVar |
22 | g.50625397C>A | CA412168929 | ARSA | c.1278G>T (p.Glu426Asp) c.1020G>T (p.Glu340Asp) c.146G>T c.*11G>T (n.*11G>T) c.1392G>T (p.Glu464Asp) | |
22 | g.50625397C>G | CA412168932 | ARSA | c.1278G>C (p.Glu426Asp) c.1020G>C (p.Glu340Asp) c.146G>C c.*11G>C (n.*11G>C) c.1392G>C (p.Glu464Asp) | |
22 | g.50625397C>T | CA515391192 | ARSA | c.1278G>A (p.Glu426=) c.1020G>A (p.Glu340=) c.146G>A c.*11G>A (n.*11G>A) c.1392G>A (p.Glu464=) | ClinVar dbSNP gnomAD v4 |
22 | g.50625397_50625400del | CA2819316120 | ARSA | c.1275_1278del (p.Glu426ProfsTer?) c.1017_1020del (p.Glu340ProfsTer?) c.143_146del c.*8_*11del (n.*8_*11del) c.1389_1392del (p.Glu464ProfsTer?) | |
22 | g.50625398T>A | CA412168948 | ARSA | c.1277A>T (p.Glu426Val) c.1019A>T (p.Glu340Val) c.145A>T c.*10A>T (n.*10A>T) c.1391A>T (p.Glu464Val) | |
22 | g.50625398T>C | CA10324755 | ARSA | c.1277A>G (p.Glu426Gly) c.1019A>G (p.Glu340Gly) c.145A>G c.*10A>G (n.*10A>G) c.1391A>G (p.Glu464Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625398T>G | CA412168949 | ARSA | c.1277A>C (p.Glu426Ala) c.1019A>C (p.Glu340Ala) c.145A>C c.*10A>C (n.*10A>C) c.1391A>C (p.Glu464Ala) | |
22 | g.50625398T= | CA2410958459 | ARSA | c.1277A= (p.Glu426=) c.1019A= (p.Glu340=) c.145A= c.*10A= (n.*10A=) c.1391A= (p.Glu464=) | |
22 | g.50625399C>A | CA412168954 | ARSA | c.1276G>T (p.Glu426Ter) c.1018G>T (p.Glu340Ter) c.144G>T c.*9G>T (n.*9G>T) c.1390G>T (p.Glu464Ter) | |
22 | g.50625399C>G | CA412168957 | ARSA | c.1276G>C (p.Glu426Gln) c.1018G>C (p.Glu340Gln) c.144G>C c.*9G>C (n.*9G>C) c.1390G>C (p.Glu464Gln) | |
22 | g.50625399C>T | CA412168961 | ARSA | c.1276G>A (p.Glu426Lys) c.1018G>A (p.Glu340Lys) c.144G>A c.*9G>A (n.*9G>A) c.1390G>A (p.Glu464Lys) | ClinVar dbSNP |
22 | g.50625400A>C | CA412168966 | ARSA | c.1275T>G (p.His425Gln) c.1017T>G (p.His339Gln) c.143T>G c.*8T>G (n.*8T>G) c.1389T>G (p.His463Gln) | gnomAD v4 |
22 | g.50625400A>G | CA515391200 | ARSA | c.1275T>C (p.His425=) c.1017T>C (p.His339=) c.143T>C c.*8T>C (n.*8T>C) c.1389T>C (p.His463=) | |
22 | g.50625400A>T | CA412168970 | ARSA | c.1275T>A (p.His425Gln) c.1017T>A (p.His339Gln) c.143T>A c.*8T>A (n.*8T>A) c.1389T>A (p.His463Gln) | |
22 | g.50625400_50625401delinsGG | CA2573158297 | ARSA | c.1274_1275delinsCC (p.His425Pro) c.1016_1017delinsCC (p.His339Pro) c.142_143delinsCC c.*7_*8delinsCC (n.*7_*8delinsCC) c.1388_1389delinsCC (p.His463Pro) | dbSNP |
22 | g.50625401T>A | CA412168975 | ARSA | c.1274A>T (p.His425Leu) c.1016A>T (p.His339Leu) c.142A>T c.*7A>T (n.*7A>T) c.1388A>T (p.His463Leu) | |
22 | g.50625401T>C | CA412168978 | ARSA | c.1274A>G (p.His425Arg) c.1016A>G (p.His339Arg) c.142A>G c.*7A>G (n.*7A>G) c.1388A>G (p.His463Arg) | ClinVar dbSNP gnomAD v4 |
22 | g.50625401T>G | CA412168982 | ARSA | c.1274A>C (p.His425Pro) c.1016A>C (p.His339Pro) c.142A>C c.*7A>C (n.*7A>C) c.1388A>C (p.His463Pro) | gnomAD v4 |
22 | g.50625401T= | CA2410958460 | ARSA | c.1274A= (p.His425=) c.1016A= (p.His339=) c.142A= c.*7A= (n.*7A=) c.1388A= (p.His463=) | |
22 | g.50625402G>A | CA412168986 | ARSA | c.1273C>T (p.His425Tyr) c.1015C>T (p.His339Tyr) c.141C>T c.*6C>T (n.*6C>T) c.1387C>T (p.His463Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625402G>C | CA10324756 | ARSA | c.1273C>G (p.His425Asp) c.1015C>G (p.His339Asp) c.141C>G c.*6C>G (n.*6C>G) c.1387C>G (p.His463Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625402G= | CA2410958461 | ARSA | c.1273C= (p.His425=) c.1015C= (p.His339=) c.141C= c.*6C= (n.*6C=) c.1387C= (p.His463=) | |
22 | g.50625402G>T | CA412168995 | ARSA | c.1273C>A (p.His425Asn) c.1015C>A (p.His339Asn) c.141C>A c.*6C>A (n.*6C>A) c.1387C>A (p.His463Asn) | gnomAD v4 |
22 | g.50625403A= | CA2410958462 | ARSA | c.1272T= (p.Ala424=) c.1014T= (p.Ala338=) c.140T= c.*5T= (n.*5T=) c.1386T= (p.Ala462=) | |
22 | g.50625403A>C | CA515391204 | ARSA | c.1272T>G (p.Ala424=) c.1014T>G (p.Ala338=) c.140T>G c.*5T>G (n.*5T>G) c.1386T>G (p.Ala462=) | |
22 | g.50625403A>G | CA515391207 | ARSA | c.1272T>C (p.Ala424=) c.1014T>C (p.Ala338=) c.140T>C c.*5T>C (n.*5T>C) c.1386T>C (p.Ala462=) | dbSNP |
22 | g.50625403A>T | CA515391205 | ARSA | c.1272T>A (p.Ala424=) c.1014T>A (p.Ala338=) c.140T>A c.*5T>A (n.*5T>A) c.1386T>A (p.Ala462=) | |
22 | g.50625404G>A | CA412169010 | ARSA | c.1271C>T (p.Ala424Val) c.1013C>T (p.Ala338Val) c.139C>T c.*4C>T (n.*4C>T) c.1385C>T (p.Ala462Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625404G>C | CA412169006 | ARSA | c.1271C>G (p.Ala424Gly) c.1013C>G (p.Ala338Gly) c.139C>G c.*4C>G (n.*4C>G) c.1385C>G (p.Ala462Gly) | gnomAD v4 |
22 | g.50625404G= | CA2410958463 | ARSA | c.1271C= (p.Ala424=) c.1013C= (p.Ala338=) c.139C= c.*4C= (n.*4C=) c.1385C= (p.Ala462=) | |
22 | g.50625404G>T | CA412169003 | ARSA | c.1271C>A (p.Ala424Asp) c.1013C>A (p.Ala338Asp) c.139C>A c.*4C>A (n.*4C>A) c.1385C>A (p.Ala462Asp) | |
22 | g.50625404_50625408delinsGCAGT | CA2410958464 | ARSA | c.1267_1271delinsACTGC (p.Thr423=) c.1009_1013delinsACTGC (p.Thr337=) c.135_139delinsACTGC c.1164_*4delinsACTGC (n.[c.1164_*4delinsACTGC;Ter388=]) c.1381_1385delinsACTGC (p.Thr461=) | |
22 | g.50625405del | CA2819316123 | ARSA | c.1270del (p.Ala424LeufsTer?) c.1012del (p.Ala338LeufsTer?) c.138del c.*3del (n.*3del) c.1384del (p.Ala462LeufsTer?) | |
22 | g.50625405C>A | CA412169026 | ARSA | c.1270G>T (p.Ala424Ser) c.1012G>T (p.Ala338Ser) c.138G>T c.*3G>T (n.*3G>T) c.1384G>T (p.Ala462Ser) | gnomAD v4 |
22 | g.50625405C= | CA2410958466 | ARSA | c.1270G= (p.Ala424=) c.1012G= (p.Ala338=) c.138G= c.*3G= (n.*3G=) c.1384G= (p.Ala462=) | |
22 | g.50625405C>G | CA412169031 | ARSA | c.1270G>C (p.Ala424Pro) c.1012G>C (p.Ala338Pro) c.138G>C c.*3G>C (n.*3G>C) c.1384G>C (p.Ala462Pro) | dbSNP |
22 | g.50625405C>T | CA412169049 | ARSA | c.1270G>A (p.Ala424Thr) c.1012G>A (p.Ala338Thr) c.138G>A c.*3G>A (n.*3G>A) c.1384G>A (p.Ala462Thr) | gnomAD v4 |
22 | g.50625405_50625406delinsCA | CA2410958465 | ARSA | c.1269_1270delinsTG (p.Thr423=) c.1011_1012delinsTG (p.Thr337=) c.137_138delinsTG c.*2_*3delinsTG (n.*2_*3delinsTG) c.1383_1384delinsTG (p.Thr461=) | |
22 | g.50625408_50625411del | CA920392326 | ARSA | c.1267_1270del (p.Thr423LeufsTer?) c.1009_1012del (p.Thr337LeufsTer?) c.135_138del c.1164_*3del (n.[c.1164_*3del;Ter388CysextTer3]) c.1381_1384del (p.Thr461LeufsTer?) | dbSNP |
22 | g.50625406del | CA1139667191 | ARSA | c.1269del (p.Ala424LeufsTer?) c.1011del (p.Ala338LeufsTer?) c.137del c.*2del (n.*2del) c.1383del (p.Ala462LeufsTer?) | ClinVar dbSNP |
22 | g.50625406A>C | CA515391213 | ARSA | c.1269T>G (p.Thr423=) c.1011T>G (p.Thr337=) c.137T>G c.*2T>G (n.*2T>G) c.1383T>G (p.Thr461=) | |
22 | g.50625406A>G | CA515391214 | ARSA | c.1269T>C (p.Thr423=) c.1011T>C (p.Thr337=) c.137T>C c.*2T>C (n.*2T>C) c.1383T>C (p.Thr461=) | |
22 | g.50625406A>T | CA515391215 | ARSA | c.1269T>A (p.Thr423=) c.1011T>A (p.Thr337=) c.137T>A c.*2T>A (n.*2T>A) c.1383T>A (p.Thr461=) | gnomAD v4 |
22 | g.50625407G>A | CA412169064 | ARSA | c.1268C>T (p.Thr423Ile) c.1010C>T (p.Thr337Ile) c.136C>T c.*1C>T (n.*1C>T) c.1382C>T (p.Thr461Ile) | |
22 | g.50625407G>C | CA412169069 | ARSA | c.1268C>G (p.Thr423Ser) c.1010C>G (p.Thr337Ser) c.136C>G c.*1C>G (n.*1C>G) c.1382C>G (p.Thr461Ser) | |
22 | g.50625407G>T | CA412169071 | ARSA | c.1268C>A (p.Thr423Asn) c.1010C>A (p.Thr337Asn) c.136C>A c.*1C>A (n.*1C>A) c.1382C>A (p.Thr461Asn) | |
22 | g.50625408T>A | CA412169077 | ARSA | c.1267A>T (p.Thr423Ser) c.1009A>T (p.Thr337Ser) c.135A>T c.1164A>T (p.Ter388Cys) c.1381A>T (p.Thr461Ser) | |
22 | g.50625408T>C | CA412169080 | ARSA | c.1267A>G (p.Thr423Ala) c.1009A>G (p.Thr337Ala) c.135A>G c.1164A>G (p.Ter388Trp) c.1381A>G (p.Thr461Ala) | |
22 | g.50625408T>G | CA412169085 | ARSA | c.1267A>C (p.Thr423Pro) c.1009A>C (p.Thr337Pro) c.135A>C c.1164A>C (p.Ter388Cys) c.1381A>C (p.Thr461Pro) | gnomAD v4 |
22 | g.50625409C>A | CA515391220 | ARSA | c.1266G>T (p.Leu422=) c.1008G>T (p.Leu336=) c.134G>T c.1163G>T (p.Ter388Leu) c.1380G>T (p.Leu460=) | |
22 | g.50625409C>G | CA515391221 | ARSA | c.1266G>C (p.Leu422=) c.1008G>C (p.Leu336=) c.134G>C c.1163G>C (p.Ter388Ser) c.1380G>C (p.Leu460=) | |
22 | g.50625409C>T | CA515391222 | ARSA | c.1266G>A (p.Leu422=) c.1008G>A (p.Leu336=) c.134G>A c.1163G>A (p.Ter388=) c.1380G>A (p.Leu460=) | |
22 | g.50625409dup | CA2657590927 | ARSA | c.1266dup (p.Thr423AspfsTer4) c.1008dup (p.Thr337AspfsTer4) c.134dup c.1163dup (p.Ter388TrpextTer?) c.1380dup (p.Thr461AspfsTer4) | gnomAD v4 |
22 | g.50625410A= | CA2410958468 | ARSA | c.1265T= (p.Leu422=) c.1007T= (p.Leu336=) c.133T= c.1162T= (p.Ter388=) c.1379T= (p.Leu460=) | |
22 | g.50625410A>C | CA412169092 | ARSA | c.1265T>G (p.Leu422Arg) c.1007T>G (p.Leu336Arg) c.133T>G c.1162T>G (p.Ter388Gly) c.1379T>G (p.Leu460Arg) | |
22 | g.50625410A>G | CA412169096 | ARSA | c.1265T>C (p.Leu422Pro) c.1007T>C (p.Leu336Pro) c.133T>C c.1162T>C (p.Ter388Arg) c.1379T>C (p.Leu460Pro) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625410A>T | CA412169101 | ARSA | c.1265T>A (p.Leu422Gln) c.1007T>A (p.Leu336Gln) c.133T>A c.1162T>A (p.Ter388Arg) c.1379T>A (p.Leu460Gln) | |
22 | g.50625410_50625411delinsAG | CA2410958467 | ARSA | c.1264_1265delinsCT (p.Leu422=) c.1006_1007delinsCT (p.Leu336=) c.132_133delinsCT c.1161_1162delinsCT (p.Leu387=) c.1378_1379delinsCT (p.Leu460=) | |
22 | g.50625414_50625415del | CA2657590928 | ARSA | c.1264_1265del (p.Leu422AspfsTer4) c.1006_1007del (p.Leu336AspfsTer4) c.132_133del c.1161_1162del (p.Ter388ThrextTer?) c.1378_1379del (p.Leu460AspfsTer4) | ClinVar gnomAD v4 |
22 | g.50625410_50625411insAG | CA2657590933 | ARSA | c.1264_1265insCT (p.Leu422ProfsTer2) c.1006_1007insCT (p.Leu336ProfsTer2) c.132_133insCT c.1161_1162insCT (p.Ter388LeuextTer5) c.1378_1379insCT (p.Leu460ProfsTer2) | gnomAD v4 |
22 | g.50625411del | CA10324757 | ARSA | c.1264del (p.Leu422Ter) c.1006del (p.Leu336Ter) c.132del c.1161del (p.Ter388AspextTer4) c.1378del (p.Leu460Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625411G>A | CA515391224 | ARSA | c.1264C>T (p.Leu422=) c.1006C>T (p.Leu336=) c.132C>T c.1161C>T (p.Leu387=) c.1378C>T (p.Leu460=) | |
22 | g.50625411G>C | CA412169126 | ARSA | c.1264C>G (p.Leu422Val) c.1006C>G (p.Leu336Val) c.132C>G c.1161C>G (p.Leu387=) c.1378C>G (p.Leu460Val) | dbSNP |
22 | g.50625411G= | CA2410958469 | ARSA | c.1264C= (p.Leu422=) c.1006C= (p.Leu336=) c.132C= c.1161C= (p.Leu387=) c.1378C= (p.Leu460=) | |
22 | g.50625411G>T | CA412169111 | ARSA | c.1264C>A (p.Leu422Met) c.1006C>A (p.Leu336Met) c.132C>A c.1161C>A (p.Leu387=) c.1378C>A (p.Leu460Met) | |
22 | g.50625412A>C | CA515391226 | ARSA | c.1263T>G (p.Ser421=) c.1005T>G (p.Ser335=) c.131T>G c.1160T>G (p.Leu387Arg) c.1377T>G (p.Ser459=) | |
22 | g.50625412A>G | CA515391228 | ARSA | c.1263T>C (p.Ser421=) c.1005T>C (p.Ser335=) c.131T>C c.1160T>C (p.Leu387Pro) c.1377T>C (p.Ser459=) | gnomAD v4 |
22 | g.50625412A>T | CA515391230 | ARSA | c.1263T>A (p.Ser421=) c.1005T>A (p.Ser335=) c.131T>A c.1160T>A (p.Leu387His) c.1377T>A (p.Ser459=) | |
22 | g.50625412_50625413insCCCTGGT | CA2657590938 | ARSA | c.1262_1263insACCAGGG (p.Leu422ProfsTer7) c.1004_1005insACCAGGG (p.Leu336ProfsTer7) c.130_131insACCAGGG c.1159_1160insACCAGGG (p.Leu387HisfsTer?) c.1376_1377insACCAGGG (p.Leu460ProfsTer7) | gnomAD v4 |
22 | g.50625413G>A | CA412169132 | ARSA | c.1262C>T (p.Ser421Phe) c.1004C>T (p.Ser335Phe) c.130C>T c.1159C>T (p.Leu387Phe) c.1376C>T (p.Ser459Phe) | |
22 | g.50625413G>C | CA10324758 | ARSA | c.1262C>G (p.Ser421Cys) c.1004C>G (p.Ser335Cys) c.130C>G c.1159C>G (p.Leu387Val) c.1376C>G (p.Ser459Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625413G= | CA2410958470 | ARSA | c.1262C= (p.Ser421=) c.1004C= (p.Ser335=) c.130C= c.1159C= (p.Leu387=) c.1376C= (p.Ser459=) | |
22 | g.50625413G>T | CA412169133 | ARSA | c.1262C>A (p.Ser421Tyr) c.1004C>A (p.Ser335Tyr) c.130C>A c.1159C>A (p.Leu387Ile) c.1376C>A (p.Ser459Tyr) | |
22 | g.50625414A>C | CA412169134 | ARSA | c.1261T>G (p.Ser421Ala) c.1003T>G (p.Ser335Ala) c.129T>G c.1158T>G (p.Ala386=) c.1375T>G (p.Ser459Ala) | |
22 | g.50625414A>G | CA412169138 | ARSA | c.1261T>C (p.Ser421Pro) c.1003T>C (p.Ser335Pro) c.129T>C c.1158T>C (p.Ala386=) c.1375T>C (p.Ser459Pro) | |
22 | g.50625414A>T | CA412169145 | ARSA | c.1261T>A (p.Ser421Thr) c.1003T>A (p.Ser335Thr) c.129T>A c.1158T>A (p.Ala386=) c.1375T>A (p.Ser459Thr) | |
22 | g.50625415G>A | CA515391233 | ARSA | c.1260C>T (p.Ser420=) c.1002C>T (p.Ser334=) c.128C>T c.1157C>T (p.Ala386Val) c.1374C>T (p.Ser458=) | ClinVar dbSNP |
22 | g.50625415G>C | CA412169152 | ARSA | c.1260C>G (p.Ser420Arg) c.1002C>G (p.Ser334Arg) c.128C>G c.1157C>G (p.Ala386Gly) c.1374C>G (p.Ser458Arg) | |
22 | g.50625415G= | CA2410958471 | ARSA | c.1260C= (p.Ser420=) c.1002C= (p.Ser334=) c.128C= c.1157C= (p.Ala386=) c.1374C= (p.Ser458=) | |
22 | g.50625415G>T | CA412169154 | ARSA | c.1260C>A (p.Ser420Arg) c.1002C>A (p.Ser334Arg) c.128C>A c.1157C>A (p.Ala386Asp) c.1374C>A (p.Ser458Arg) | |
22 | g.50625415_50625416insAACTACAAC | CA2657590943 | ARSA | c.1259_1260insGTTGTAGTT (p.Ser420ArgfsTer3) c.1001_1002insGTTGTAGTT (p.Ser334ArgfsTer3) c.127_128insGTTGTAGTT c.1156_1157insGTTGTAGTT (p.Ala386delinsGlyCysSerSer) c.1373_1374insGTTGTAGTT (p.Ser458ArgfsTer3) | gnomAD v4 |
22 | g.50625416C>A | CA412169173 | ARSA | c.1259G>T (p.Ser420Ile) c.1001G>T (p.Ser334Ile) c.127G>T c.1156G>T (p.Ala386Ser) c.1373G>T (p.Ser458Ile) | gnomAD v4 |
22 | g.50625416C>G | CA412169176 | ARSA | c.1259G>C (p.Ser420Thr) c.1001G>C (p.Ser334Thr) c.127G>C c.1156G>C (p.Ala386Pro) c.1373G>C (p.Ser458Thr) | |
22 | g.50625416C>T | CA412169178 | ARSA | c.1259G>A (p.Ser420Asn) c.1001G>A (p.Ser334Asn) c.127G>A c.1156G>A (p.Ala386Thr) c.1373G>A (p.Ser458Asn) | |
22 | g.50625417T>A | CA412169180 | ARSA | c.1258A>T (p.Ser420Cys) c.1000A>T (p.Ser334Cys) c.126A>T c.1155A>T (p.Pro385=) c.1372A>T (p.Ser458Cys) | |
22 | g.50625417T>C | CA412169183 | ARSA | c.1258A>G (p.Ser420Gly) c.1000A>G (p.Ser334Gly) c.126A>G c.1155A>G (p.Pro385=) c.1372A>G (p.Ser458Gly) | gnomAD v4 |
22 | g.50625417T>G | CA10324759 | ARSA | c.1258A>C (p.Ser420Arg) c.1000A>C (p.Ser334Arg) c.126A>C c.1155A>C (p.Pro385=) c.1372A>C (p.Ser458Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625417T= | CA2410958472 | ARSA | c.1258A= (p.Ser420=) c.1000A= (p.Ser334=) c.126A= c.1155A= (p.Pro385=) c.1372A= (p.Ser458=) | |
22 | g.50625418G>A | CA325531227 | ARSA | c.1257C>T (p.Ser419=) c.999C>T (p.Ser333=) c.125C>T c.1154C>T (p.Pro385Leu) c.1371C>T (p.Ser457=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625418G>C | CA515391240 | ARSA | c.1257C>G (p.Ser419=) c.999C>G (p.Ser333=) c.125C>G c.1154C>G (p.Pro385Arg) c.1371C>G (p.Ser457=) | |
22 | g.50625418G= | CA2410958473 | ARSA | c.1257C= (p.Ser419=) c.999C= (p.Ser333=) c.125C= c.1154C= (p.Pro385=) c.1371C= (p.Ser457=) | |
22 | g.50625418G>T | CA515391238 | ARSA | c.1257C>A (p.Ser419=) c.999C>A (p.Ser333=) c.125C>A c.1154C>A (p.Pro385Gln) c.1371C>A (p.Ser457=) | gnomAD v4 |
22 | g.50625419G>A | CA412169198 | ARSA | c.1256C>T (p.Ser419Phe) c.998C>T (p.Ser333Phe) c.124C>T c.1153C>T (p.Pro385Ser) c.1370C>T (p.Ser457Phe) | |
22 | g.50625419G>C | CA412169193 | ARSA | c.1256C>G (p.Ser419Cys) c.998C>G (p.Ser333Cys) c.124C>G c.1153C>G (p.Pro385Ala) c.1370C>G (p.Ser457Cys) | |
22 | g.50625419G= | CA2410958474 | ARSA | c.1256C= (p.Ser419=) c.998C= (p.Ser333=) c.124C= c.1153C= (p.Pro385=) c.1370C= (p.Ser457=) | |
22 | g.50625419G>T | CA325531228 | ARSA | c.1256C>A (p.Ser419Tyr) c.998C>A (p.Ser333Tyr) c.124C>A c.1153C>A (p.Pro385Thr) c.1370C>A (p.Ser457Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625420A>C | CA412169203 | ARSA | c.1255T>G (p.Ser419Ala) c.997T>G (p.Ser333Ala) c.123T>G c.1152T>G (p.Pro384=) c.1369T>G (p.Ser457Ala) | |
22 | g.50625420A>G | CA412169213 | ARSA | c.1255T>C (p.Ser419Pro) c.997T>C (p.Ser333Pro) c.123T>C c.1152T>C (p.Pro384=) c.1369T>C (p.Ser457Pro) | gnomAD v4 |
22 | g.50625420A>T | CA412169215 | ARSA | c.1255T>A (p.Ser419Thr) c.997T>A (p.Ser333Thr) c.123T>A c.1152T>A (p.Pro384=) c.1369T>A (p.Ser457Thr) | |
22 | g.50625421G>A | CA515391248 | ARSA | c.1254C>T (p.Ala418=) c.996C>T (p.Ala332=) c.122C>T c.1151C>T (p.Pro384Leu) c.1368C>T (p.Ala456=) | ClinVar gnomAD v4 |
22 | g.50625421G>C | CA515391250 | ARSA | c.1254C>G (p.Ala418=) c.996C>G (p.Ala332=) c.122C>G c.1151C>G (p.Pro384Arg) c.1368C>G (p.Ala456=) | gnomAD v4 |
22 | g.50625421G>T | CA515391249 | ARSA | c.1254C>A (p.Ala418=) c.996C>A (p.Ala332=) c.122C>A c.1151C>A (p.Pro384His) c.1368C>A (p.Ala456=) | |
22 | g.50625422G>A | CA412169219 | ARSA | c.1253C>T (p.Ala418Val) c.995C>T (p.Ala332Val) c.121C>T c.1150C>T (p.Pro384Ser) c.1367C>T (p.Ala456Val) | COSMIC |
22 | g.50625422G>C | CA412169220 | ARSA | c.1253C>G (p.Ala418Gly) c.995C>G (p.Ala332Gly) c.121C>G c.1150C>G (p.Pro384Ala) c.1367C>G (p.Ala456Gly) | gnomAD v4 |
22 | g.50625422G>T | CA412169223 | ARSA | c.1253C>A (p.Ala418Asp) c.995C>A (p.Ala332Asp) c.121C>A c.1150C>A (p.Pro384Thr) c.1367C>A (p.Ala456Asp) | gnomAD v4 |
22 | g.50625423C>A | CA412169225 | ARSA | c.1252G>T (p.Ala418Ser) c.994G>T (p.Ala332Ser) c.120G>T c.1149G>T (p.Thr383=) c.1366G>T (p.Ala456Ser) | gnomAD v4 |
22 | g.50625423C= | CA2410958475 | ARSA | c.1252G= (p.Ala418=) c.994G= (p.Ala332=) c.120G= c.1149G= (p.Thr383=) c.1366G= (p.Ala456=) | |
22 | g.50625423C>G | CA412169230 | ARSA | c.1252G>C (p.Ala418Pro) c.994G>C (p.Ala332Pro) c.120G>C c.1149G>C (p.Thr383=) c.1366G>C (p.Ala456Pro) | |
22 | g.50625423C>T | CA10324760 | ARSA | c.1252G>A (p.Ala418Thr) c.994G>A (p.Ala332Thr) c.120G>A c.1149G>A (p.Thr383=) c.1366G>A (p.Ala456Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625424G>A | CA10324761 | ARSA | c.1251C>T (p.His417=) c.993C>T (p.His331=) c.119C>T c.1148C>T (p.Thr383Met) c.1365C>T (p.His455=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625424G>C | CA412169233 | ARSA | c.1251C>G (p.His417Gln) c.993C>G (p.His331Gln) c.119C>G c.1148C>G (p.Thr383Arg) c.1365C>G (p.His455Gln) | |
22 | g.50625424G= | CA2410958476 | ARSA | c.1251C= (p.His417=) c.993C= (p.His331=) c.119C= c.1148C= (p.Thr383=) c.1365C= (p.His455=) | |
22 | g.50625424G>T | CA412169236 | ARSA | c.1251C>A (p.His417Gln) c.993C>A (p.His331Gln) c.119C>A c.1148C>A (p.Thr383Lys) c.1365C>A (p.His455Gln) | |
22 | g.50625425T>A | CA412169253 | ARSA | c.1250A>T (p.His417Leu) c.992A>T (p.His331Leu) c.118A>T c.1147A>T (p.Thr383Ser) c.1364A>T (p.His455Leu) | |
22 | g.50625425T>C | CA412169251 | ARSA | c.1250A>G (p.His417Arg) c.992A>G (p.His331Arg) c.118A>G c.1147A>G (p.Thr383Ala) c.1364A>G (p.His455Arg) | |
22 | g.50625425T>G | CA412169246 | ARSA | c.1250A>C (p.His417Pro) c.992A>C (p.His331Pro) c.118A>C c.1147A>C (p.Thr383Pro) c.1364A>C (p.His455Pro) | |
22 | g.50625426G>A | CA412169261 | ARSA | c.1249C>T (p.His417Tyr) c.991C>T (p.His331Tyr) c.117C>T c.1146C>T (p.Ala382=) c.1363C>T (p.His455Tyr) | |
22 | g.50625426G>C | CA412169270 | ARSA | c.1249C>G (p.His417Asp) c.991C>G (p.His331Asp) c.117C>G c.1146C>G (p.Ala382=) c.1363C>G (p.His455Asp) | |
22 | g.50625426G>T | CA412169275 | ARSA | c.1249C>A (p.His417Asn) c.991C>A (p.His331Asn) c.117C>A c.1146C>A (p.Ala382=) c.1363C>A (p.His455Asn) | gnomAD v4 |
22 | g.50625427G>A | CA515391261 | ARSA | c.1248C>T (p.Cys416=) c.990C>T (p.Cys330=) c.116C>T c.1145C>T (p.Ala382Val) c.1362C>T (p.Cys454=) | gnomAD v4 |
22 | g.50625427G>C | CA412169281 | ARSA | c.1248C>G (p.Cys416Trp) c.990C>G (p.Cys330Trp) c.116C>G c.1145C>G (p.Ala382Gly) c.1362C>G (p.Cys454Trp) | |
22 | g.50625427G>T | CA412169284 | ARSA | c.1248C>A (p.Cys416Ter) c.990C>A (p.Cys330Ter) c.116C>A c.1145C>A (p.Ala382Asp) c.1362C>A (p.Cys454Ter) |