Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.230710302G>A | CA424036581 | AGT | c.522C>T (p.Ala174=) n.1033C>T c.549C>T (p.Ala183=) | gnomAD v4 |
1 | g.230710302G>C | CA424036582 | AGT | c.522C>G (p.Ala174=) n.1033C>G c.549C>G (p.Ala183=) | |
1 | g.230710302G>T | CA424036583 | AGT | c.522C>A (p.Ala174=) n.1033C>A c.549C>A (p.Ala183=) | |
1 | g.230710302_230710303insCCCTGTACAGCCT | CA2650971413 | AGT | c.521_522insAGGCTGTACAGGG (p.Leu175GlyfsTer19) n.1032_1033insAGGCTGTACAGGG c.548_549insAGGCTGTACAGGG (p.Leu184GlyfsTer19) | gnomAD v4 |
1 | g.230710303G>A | CA345206366 | AGT | c.521C>T (p.Ala174Val) n.1032C>T c.548C>T (p.Ala183Val) | dbSNP gnomAD v4 |
1 | g.230710303G>C | CA345206368 | AGT | c.521C>G (p.Ala174Gly) n.1032C>G c.548C>G (p.Ala183Gly) | |
1 | g.230710303G>T | CA345206369 | AGT | c.521C>A (p.Ala174Asp) n.1032C>A c.548C>A (p.Ala183Asp) | |
1 | g.230710304C>A | CA345206371 | AGT | c.520G>T (p.Ala174Ser) n.1031G>T c.547G>T (p.Ala183Ser) | dbSNP |
1 | g.230710304C= | CA1226669685 | AGT | c.520G= (p.Ala174=) n.1031G= c.547G= (p.Ala183=) | |
1 | g.230710304C>G | CA38871650 | AGT | c.520G>C (p.Ala174Pro) n.1031G>C c.547G>C (p.Ala183Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710304C>T | CA345206373 | AGT | c.520G>A (p.Ala174Thr) n.1031G>A c.547G>A (p.Ala183Thr) | |
1 | g.230710305A= | CA1226669686 | AGT | c.519T= (p.Ser173=) n.1030T= c.546T= (p.Ser182=) | |
1 | g.230710305A>C | CA424036585 | AGT | c.519T>G (p.Ser173=) n.1030T>G c.546T>G (p.Ser182=) | |
1 | g.230710305A>G | CA1448280 | AGT | c.519T>C (p.Ser173=) n.1030T>C c.546T>C (p.Ser182=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710305A>T | CA424036586 | AGT | c.519T>A (p.Ser173=) n.1030T>A c.546T>A (p.Ser182=) | |
1 | g.230710306G>A | CA345206376 | AGT | c.518C>T (p.Ser173Phe) n.1029C>T c.545C>T (p.Ser182Phe) | |
1 | g.230710306G>C | CA345206378 | AGT | c.518C>G (p.Ser173Cys) n.1029C>G c.545C>G (p.Ser182Cys) | |
1 | g.230710306G>T | CA345206377 | AGT | c.518C>A (p.Ser173Tyr) n.1029C>A c.545C>A (p.Ser182Tyr) | |
1 | g.230710307A>C | CA345206380 | AGT | c.517T>G (p.Ser173Ala) n.1028T>G c.544T>G (p.Ser182Ala) | |
1 | g.230710307A>G | CA345206381 | AGT | c.517T>C (p.Ser173Pro) n.1028T>C c.544T>C (p.Ser182Pro) | |
1 | g.230710307A>T | CA345206383 | AGT | c.517T>A (p.Ser173Thr) n.1028T>A c.544T>A (p.Ser182Thr) | |
1 | g.230710308C>A | CA424036587 | AGT | c.516G>T (p.Leu172=) n.1027G>T c.543G>T (p.Leu181=) | |
1 | g.230710308C= | CA1226669687 | AGT | c.516G= (p.Leu172=) n.1027G= c.543G= (p.Leu181=) | |
1 | g.230710308C>G | CA38871672 | AGT | c.516G>C (p.Leu172=) n.1027G>C c.543G>C (p.Leu181=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.230710308C>T | CA424036588 | AGT | c.516G>A (p.Leu172=) n.1027G>A c.543G>A (p.Leu181=) | gnomAD v4 |
1 | g.230710309A>C | CA345206385 | AGT | c.515T>G (p.Leu172Arg) n.1026T>G c.542T>G (p.Leu181Arg) | |
1 | g.230710309A>G | CA345206388 | AGT | c.515T>C (p.Leu172Pro) n.1026T>C c.542T>C (p.Leu181Pro) | gnomAD v4 |
1 | g.230710309A>T | CA345206387 | AGT | c.515T>A (p.Leu172Gln) n.1026T>A c.542T>A (p.Leu181Gln) | |
1 | g.230710310G>A | CA424036590 | AGT | c.514C>T (p.Leu172=) n.1025C>T c.541C>T (p.Leu181=) | gnomAD v4 |
1 | g.230710310G>C | CA345206390 | AGT | c.514C>G (p.Leu172Val) n.1025C>G c.541C>G (p.Leu181Val) | |
1 | g.230710310G>T | CA345206391 | AGT | c.514C>A (p.Leu172Met) n.1025C>A c.541C>A (p.Leu181Met) | |
1 | g.230710311G>A | CA1448281 | AGT | c.513C>T (p.Val171=) n.1024C>T c.540C>T (p.Val180=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710311G>C | CA424036591 | AGT | c.513C>G (p.Val171=) n.1024C>G c.540C>G (p.Val180=) | |
1 | g.230710311G= | CA1143587057 | AGT | c.513C= (p.Val171=) n.1024C= c.540C= (p.Val180=) | |
1 | g.230710311G>T | CA424036592 | AGT | c.513C>A (p.Val171=) n.1024C>A c.540C>A (p.Val180=) | |
1 | g.230710312A= | CA1226669688 | AGT | c.512T= (p.Val171=) n.1023T= c.539T= (p.Val180=) | |
1 | g.230710312A>C | CA345206394 | AGT | c.512T>G (p.Val171Gly) n.1023T>G c.539T>G (p.Val180Gly) | |
1 | g.230710312A>G | CA345206396 | AGT | c.512T>C (p.Val171Ala) n.1023T>C c.539T>C (p.Val180Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710312A>T | CA345206397 | AGT | c.512T>A (p.Val171Asp) n.1023T>A c.539T>A (p.Val180Asp) | |
1 | g.230710313C>A | CA345206399 | AGT | c.511G>T (p.Val171Phe) n.1022G>T c.538G>T (p.Val180Phe) | |
1 | g.230710313C= | CA1226669689 | AGT | c.511G= (p.Val171=) n.1022G= c.538G= (p.Val180=) | |
1 | g.230710313C>G | CA345206400 | AGT | c.511G>C (p.Val171Leu) n.1022G>C c.538G>C (p.Val180Leu) | |
1 | g.230710313C>T | CA345206402 | AGT | c.511G>A (p.Val171Ile) n.1022G>A c.538G>A (p.Val180Ile) | ClinVar dbSNP |
1 | g.230710314C>A | CA345206403 | AGT | c.510G>T (p.Lys170Asn) n.1021G>T c.537G>T (p.Lys179Asn) | |
1 | g.230710314C>G | CA345206405 | AGT | c.510G>C (p.Lys170Asn) n.1021G>C c.537G>C (p.Lys179Asn) | |
1 | g.230710314C>T | CA424036594 | AGT | c.510G>A (p.Lys170=) n.1021G>A c.537G>A (p.Lys179=) | |
1 | g.230710315T>A | CA345206409 | AGT | c.509A>T (p.Lys170Met) n.1020A>T c.536A>T (p.Lys179Met) | |
1 | g.230710315T>C | CA1448282 | AGT | c.509A>G (p.Lys170Arg) n.1020A>G c.536A>G (p.Lys179Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710315T>G | CA345206407 | AGT | c.509A>C (p.Lys170Thr) n.1020A>C c.536A>C (p.Lys179Thr) | |
1 | g.230710315T= | CA1226669690 | AGT | c.509A= (p.Lys170=) n.1020A= c.536A= (p.Lys179=) | |
1 | g.230710316T>A | CA345206414 | AGT | c.508A>T (p.Lys170Ter) n.1019A>T c.535A>T (p.Lys179Ter) | |
1 | g.230710316T>C | CA345206411 | AGT | c.508A>G (p.Lys170Glu) n.1019A>G c.535A>G (p.Lys179Glu) | |
1 | g.230710316T>G | CA345206413 | AGT | c.508A>C (p.Lys170Gln) n.1019A>C c.535A>C (p.Lys179Gln) | |
1 | g.230710317G>A | CA424036598 | AGT | c.507C>T (p.His169=) n.1018C>T c.534C>T (p.His178=) | |
1 | g.230710317G>C | CA345206416 | AGT | c.507C>G (p.His169Gln) n.1018C>G c.534C>G (p.His178Gln) | |
1 | g.230710317G>T | CA345206417 | AGT | c.507C>A (p.His169Gln) n.1018C>A c.534C>A (p.His178Gln) | |
1 | g.230710318T>A | CA345206418 | AGT | c.506A>T (p.His169Leu) n.1017A>T c.533A>T (p.His178Leu) | |
1 | g.230710318T>C | CA345206420 | AGT | c.506A>G (p.His169Arg) n.1017A>G c.533A>G (p.His178Arg) | |
1 | g.230710318T>G | CA345206421 | AGT | c.506A>C (p.His169Pro) n.1017A>C c.533A>C (p.His178Pro) | |
1 | g.230710319G>A | CA1448283 | AGT | c.505C>T (p.His169Tyr) n.1016C>T c.532C>T (p.His178Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.230710319G>C | CA345206425 | AGT | c.505C>G (p.His169Asp) n.1016C>G c.532C>G (p.His178Asp) | dbSNP |
1 | g.230710319G= | CA1226669691 | AGT | c.505C= (p.His169=) n.1016C= c.532C= (p.His178=) | |
1 | g.230710319G>T | CA345206423 | AGT | c.505C>A (p.His169Asn) n.1016C>A c.532C>A (p.His178Asn) | |
1 | g.230710319_230710320insAC | CA2549187249 | AGT | c.504_505insGT (p.His169ValfsTer15) n.1015_1016insGT c.531_532insGT (p.His178ValfsTer15) | |
1 | g.230710320C>A | CA424036600 | AGT | c.504G>T (p.Ala168=) n.1015G>T c.531G>T (p.Ala177=) | |
1 | g.230710320C= | CA1140727497 | AGT | c.504G= (p.Ala168=) n.1015G= c.531G= (p.Ala177=) | |
1 | g.230710320C>G | CA424036601 | AGT | c.504G>C (p.Ala168=) n.1015G>C c.531G>C (p.Ala177=) | dbSNP |
1 | g.230710320C>T | CA1448284 | AGT | c.504G>A (p.Ala168=) n.1015G>A c.531G>A (p.Ala177=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710321G>A | CA345206427 | AGT | c.503C>T (p.Ala168Val) n.1014C>T c.530C>T (p.Ala177Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.230710321G>C | CA345206429 | AGT | c.503C>G (p.Ala168Gly) n.1014C>G c.530C>G (p.Ala177Gly) | |
1 | g.230710321G= | CA1226669692 | AGT | c.503C= (p.Ala168=) n.1014C= c.530C= (p.Ala177=) | |
1 | g.230710321G>T | CA345206430 | AGT | c.503C>A (p.Ala168Glu) n.1014C>A c.530C>A (p.Ala177Glu) | dbSNP |
1 | g.230710322C>A | CA345206431 | AGT | c.502G>T (p.Ala168Ser) n.1013G>T c.529G>T (p.Ala177Ser) | |
1 | g.230710322C= | CA1226669693 | AGT | c.502G= (p.Ala168=) n.1013G= c.529G= (p.Ala177=) | |
1 | g.230710322C>G | CA345206434 | AGT | c.502G>C (p.Ala168Pro) n.1013G>C c.529G>C (p.Ala177Pro) | |
1 | g.230710322C>T | CA345206432 | AGT | c.502G>A (p.Ala168Thr) n.1013G>A c.529G>A (p.Ala177Thr) | dbSNP gnomAD v4 |
1 | g.230710322_230710323del | CA2564164552 | AGT | c.501_502del (p.His169GlnfsTer20) n.1012_1013del c.528_529del (p.His178GlnfsTer20) | |
1 | g.230710323A= | CA1226669694 | AGT | c.501T= (p.Asp167=) n.1012T= c.528T= (p.Asp176=) | |
1 | g.230710323A>C | CA345206435 | AGT | c.501T>G (p.Asp167Glu) n.1012T>G c.528T>G (p.Asp176Glu) | |
1 | g.230710323A>G | CA424036605 | AGT | c.501T>C (p.Asp167=) n.1012T>C c.528T>C (p.Asp176=) | |
1 | g.230710323A>T | CA345206437 | AGT | c.501T>A (p.Asp167Glu) n.1012T>A c.528T>A (p.Asp176Glu) | |
1 | g.230710324T>A | CA345206439 | AGT | c.500A>T (p.Asp167Val) n.1011A>T c.527A>T (p.Asp176Val) | |
1 | g.230710324T>C | CA345206440 | AGT | c.500A>G (p.Asp167Gly) n.1011A>G c.527A>G (p.Asp176Gly) | dbSNP gnomAD v4 |
1 | g.230710324T>G | CA345206442 | AGT | c.500A>C (p.Asp167Ala) n.1011A>C c.527A>C (p.Asp176Ala) | |
1 | g.230710324T= | CA1226669695 | AGT | c.500A= (p.Asp167=) n.1011A= c.527A= (p.Asp176=) | |
1 | g.230710324dup | CA732703670 | AGT | c.500dup (p.Asp167GlufsTer23) n.1011dup c.527dup (p.Asp176GlufsTer23) | dbSNP |
1 | g.230710325C>A | CA345206443 | AGT | c.499G>T (p.Asp167Tyr) n.1010G>T c.526G>T (p.Asp176Tyr) | |
1 | g.230710325C>G | CA345206445 | AGT | c.499G>C (p.Asp167His) n.1010G>C c.526G>C (p.Asp176His) | |
1 | g.230710325C>T | CA345206446 | AGT | c.499G>A (p.Asp167Asn) n.1010G>A c.526G>A (p.Asp176Asn) | |
1 | g.230710326C>A | CA424036611 | AGT | c.498G>T (p.Leu166=) n.1009G>T c.525G>T (p.Leu175=) | |
1 | g.230710326C>G | CA424036610 | AGT | c.498G>C (p.Leu166=) n.1009G>C c.525G>C (p.Leu175=) | |
1 | g.230710326C>T | CA424036609 | AGT | c.498G>A (p.Leu166=) n.1009G>A c.525G>A (p.Leu175=) | |
1 | g.230710327A>C | CA345206447 | AGT | c.497T>G (p.Leu166Arg) n.1008T>G c.524T>G (p.Leu175Arg) | |
1 | g.230710327A>G | CA345206449 | AGT | c.497T>C (p.Leu166Pro) n.1008T>C c.524T>C (p.Leu175Pro) | |
1 | g.230710327A>T | CA345206450 | AGT | c.497T>A (p.Leu166Gln) n.1008T>A c.524T>A (p.Leu175Gln) | |
1 | g.230710328G>A | CA424036613 | AGT | c.496C>T (p.Leu166=) n.1007C>T c.523C>T (p.Leu175=) | |
1 | g.230710328G>C | CA345206453 | AGT | c.496C>G (p.Leu166Val) n.1007C>G c.523C>G (p.Leu175Val) | |
1 | g.230710328G>T | CA345206452 | AGT | c.496C>A (p.Leu166Met) n.1007C>A c.523C>A (p.Leu175Met) | |
1 | g.230710329C>A | CA424036614 | AGT | c.495G>T (p.Arg165=) n.1006G>T c.522G>T (p.Arg174=) | COSMIC |
1 | g.230710329C>G | CA424036615 | AGT | c.495G>C (p.Arg165=) n.1006G>C c.522G>C (p.Arg174=) | |
1 | g.230710329C>T | CA424036616 | AGT | c.495G>A (p.Arg165=) n.1006G>A c.522G>A (p.Arg174=) | |
1 | g.230710330C>A | CA38871705 | AGT | c.494G>T (p.Arg165Leu) n.1005G>T c.521G>T (p.Arg174Leu) | dbSNP gnomAD v4 |
1 | g.230710330C= | CA1147040637 | AGT | c.494G= (p.Arg165=) n.1005G= c.521G= (p.Arg174=) | |
1 | g.230710330C>G | CA345206456 | AGT | c.494G>C (p.Arg165Pro) n.1005G>C c.521G>C (p.Arg174Pro) | |
1 | g.230710330C>T | CA1448285 | AGT | c.494G>A (p.Arg165Gln) n.1005G>A c.521G>A (p.Arg174Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710331G>A | CA1448286 | AGT | c.493C>T (p.Arg165Trp) n.1004C>T c.520C>T (p.Arg174Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.230710331G>C | CA345206458 | AGT | c.493C>G (p.Arg165Gly) n.1004C>G c.520C>G (p.Arg174Gly) | |
1 | g.230710331G= | CA1226669696 | AGT | c.493C= (p.Arg165=) n.1004C= c.520C= (p.Arg174=) | |
1 | g.230710331G>T | CA424036620 | AGT | c.493C>A (p.Arg165=) n.1004C>A c.520C>A (p.Arg174=) | COSMIC |
1 | g.230710332G>A | CA424036622 | AGT | c.492C>T (p.Ser164=) n.1003C>T c.519C>T (p.Ser173=) | |
1 | g.230710332G>C | CA424036623 | AGT | c.492C>G (p.Ser164=) n.1003C>G c.519C>G (p.Ser173=) | |
1 | g.230710332G>T | CA424036624 | AGT | c.492C>A (p.Ser164=) n.1003C>A c.519C>A (p.Ser173=) | |
1 | g.230710333G>A | CA345206459 | AGT | c.491C>T (p.Ser164Phe) n.1002C>T c.518C>T (p.Ser173Phe) | gnomAD v4 |
1 | g.230710333G>C | CA345206461 | AGT | c.491C>G (p.Ser164Cys) n.1002C>G c.518C>G (p.Ser173Cys) | dbSNP |
1 | g.230710333G= | CA1226669697 | AGT | c.491C= (p.Ser164=) n.1002C= c.518C= (p.Ser173=) | |
1 | g.230710333G>T | CA1448287 | AGT | c.491C>A (p.Ser164Tyr) n.1002C>A c.518C>A (p.Ser173Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710334A>C | CA345206464 | AGT | c.490T>G (p.Ser164Ala) n.1001T>G c.517T>G (p.Ser173Ala) | |
1 | g.230710334A>G | CA345206467 | AGT | c.490T>C (p.Ser164Pro) n.1001T>C c.517T>C (p.Ser173Pro) | COSMIC |
1 | g.230710334A>T | CA345206466 | AGT | c.490T>A (p.Ser164Thr) n.1001T>A c.517T>A (p.Ser173Thr) | |
1 | g.230710335G>A | CA1448288 | AGT | c.489C>T (p.Thr163=) n.1000C>T c.516C>T (p.Thr172=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710335G>C | CA424036628 | AGT | c.489C>G (p.Thr163=) n.1000C>G c.516C>G (p.Thr172=) | |
1 | g.230710335G= | CA1226669698 | AGT | c.489C= (p.Thr163=) n.1000C= c.516C= (p.Thr172=) | |
1 | g.230710335G>T | CA424036629 | AGT | c.489C>A (p.Thr163=) n.1000C>A c.516C>A (p.Thr172=) | |
1 | g.230710336G>A | CA345206470 | AGT | c.488C>T (p.Thr163Ile) n.999C>T c.515C>T (p.Thr172Ile) | dbSNP gnomAD v4 |
1 | g.230710336G>C | CA345206471 | AGT | c.488C>G (p.Thr163Ser) n.999C>G c.515C>G (p.Thr172Ser) | |
1 | g.230710336G= | CA1226669699 | AGT | c.488C= (p.Thr163=) n.999C= c.515C= (p.Thr172=) | |
1 | g.230710336G>T | CA345206472 | AGT | c.488C>A (p.Thr163Asn) n.999C>A c.515C>A (p.Thr172Asn) | dbSNP gnomAD v4 |
1 | g.230710337T>A | CA345206473 | AGT | c.487A>T (p.Thr163Ser) n.998A>T c.514A>T (p.Thr172Ser) | |
1 | g.230710337T>C | CA345206476 | AGT | c.487A>G (p.Thr163Ala) n.998A>G c.514A>G (p.Thr172Ala) | |
1 | g.230710337T>G | CA345206475 | AGT | c.487A>C (p.Thr163Pro) n.998A>C c.514A>C (p.Thr172Pro) | |
1 | g.230710338G>A | CA424036634 | AGT | c.486C>T (p.Cys162=) n.997C>T c.513C>T (p.Cys171=) | |
1 | g.230710338G>C | CA345206478 | AGT | c.486C>G (p.Cys162Trp) n.997C>G c.513C>G (p.Cys171Trp) | |
1 | g.230710338G= | CA1226669700 | AGT | c.486C= (p.Cys162=) n.997C= c.513C= (p.Cys171=) | |
1 | g.230710338G>T | CA345206479 | AGT | c.486C>A (p.Cys162Ter) n.997C>A c.513C>A (p.Cys171Ter) | |
1 | g.230710339C>A | CA345206481 | AGT | c.485G>T (p.Cys162Phe) n.996G>T c.512G>T (p.Cys171Phe) | |
1 | g.230710339C= | CA1226669701 | AGT | c.485G= (p.Cys162=) n.996G= c.512G= (p.Cys171=) | |
1 | g.230710339C>G | CA345206483 | AGT | c.485G>C (p.Cys162Ser) n.996G>C c.512G>C (p.Cys171Ser) | |
1 | g.230710339C>T | CA345206485 | AGT | c.485G>A (p.Cys162Tyr) n.996G>A c.512G>A (p.Cys171Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710340_230710353dup | CA891862742 | AGT | c.472_485dup (p.Cys162Ter) n.983_996dup c.499_512dup (p.Cys171Ter) | ClinVar dbSNP |
1 | g.230710340A>C | CA345206486 | AGT | c.484T>G (p.Cys162Gly) n.995T>G c.511T>G (p.Cys171Gly) | |
1 | g.230710340A>G | CA345206487 | AGT | c.484T>C (p.Cys162Arg) n.995T>C c.511T>C (p.Cys171Arg) | gnomAD v4 |
1 | g.230710340A>T | CA345206488 | AGT | c.484T>A (p.Cys162Ser) n.995T>A c.511T>A (p.Cys171Ser) | |
1 | g.230710341G>A | CA424036638 | AGT | c.483C>T (p.Asn161=) n.994C>T c.510C>T (p.Asn170=) | |
1 | g.230710341G>C | CA345206490 | AGT | c.483C>G (p.Asn161Lys) n.994C>G c.510C>G (p.Asn170Lys) | |
1 | g.230710341G>T | CA345206492 | AGT | c.483C>A (p.Asn161Lys) n.994C>A c.510C>A (p.Asn170Lys) | |
1 | g.230710342T>A | CA345206494 | AGT | c.482A>T (p.Asn161Ile) n.993A>T c.509A>T (p.Asn170Ile) | |
1 | g.230710342T>C | CA345206495 | AGT | c.482A>G (p.Asn161Ser) n.993A>G c.509A>G (p.Asn170Ser) | dbSNP gnomAD v2 |
1 | g.230710342T>G | CA345206496 | AGT | c.482A>C (p.Asn161Thr) n.993A>C c.509A>C (p.Asn170Thr) | |
1 | g.230710342T= | CA1226669702 | AGT | c.482A= (p.Asn161=) n.993A= c.509A= (p.Asn170=) | |
1 | g.230710343T>A | CA345206500 | AGT | c.481A>T (p.Asn161Tyr) n.992A>T c.508A>T (p.Asn170Tyr) | |
1 | g.230710343T>C | CA38871743 | AGT | c.481A>G (p.Asn161Asp) n.992A>G c.508A>G (p.Asn170Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.230710343T>G | CA345206498 | AGT | c.481A>C (p.Asn161His) n.992A>C c.508A>C (p.Asn170His) | |
1 | g.230710343T= | CA1226669703 | AGT | c.481A= (p.Asn161=) n.992A= c.508A= (p.Asn170=) | |
1 | g.230710344C>A | CA345206503 | AGT | c.480G>T (p.Lys160Asn) n.991G>T c.507G>T (p.Lys169Asn) | |
1 | g.230710344C>G | CA345206502 | AGT | c.480G>C (p.Lys160Asn) n.991G>C c.507G>C (p.Lys169Asn) | |
1 | g.230710344C>T | CA424036644 | AGT | c.480G>A (p.Lys160=) n.991G>A c.507G>A (p.Lys169=) | |
1 | g.230710345T>A | CA345206507 | AGT | c.479A>T (p.Lys160Met) n.990A>T c.506A>T (p.Lys169Met) | |
1 | g.230710345T>C | CA345206505 | AGT | c.479A>G (p.Lys160Arg) n.990A>G c.506A>G (p.Lys169Arg) | |
1 | g.230710345T>G | CA345206509 | AGT | c.479A>C (p.Lys160Thr) n.990A>C c.506A>C (p.Lys169Thr) | |
1 | g.230710346T>A | CA345206510 | AGT | c.478A>T (p.Lys160Ter) n.989A>T c.505A>T (p.Lys169Ter) | |
1 | g.230710346T>C | CA345206513 | AGT | c.478A>G (p.Lys160Glu) n.989A>G c.505A>G (p.Lys169Glu) | |
1 | g.230710346T>G | CA345206511 | AGT | c.478A>C (p.Lys160Gln) n.989A>C c.505A>C (p.Lys169Gln) | |
1 | g.230710347G>A | CA424036656 | AGT | c.477C>T (p.Asp159=) n.988C>T c.504C>T (p.Asp168=) | dbSNP |
1 | g.230710347G>C | CA345206515 | AGT | c.477C>G (p.Asp159Glu) n.988C>G c.504C>G (p.Asp168Glu) | |
1 | g.230710347G= | CA1144871954 | AGT | c.477C= (p.Asp159=) n.988C= c.504C= (p.Asp168=) | |
1 | g.230710347G>T | CA1448289 | AGT | c.477C>A (p.Asp159Glu) n.988C>A c.504C>A (p.Asp168Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710348T>A | CA345206517 | AGT | c.476A>T (p.Asp159Val) n.987A>T c.503A>T (p.Asp168Val) | gnomAD v4 |
1 | g.230710348T>C | CA345206518 | AGT | c.476A>G (p.Asp159Gly) n.987A>G c.503A>G (p.Asp168Gly) | dbSNP gnomAD v4 |
1 | g.230710348T>G | CA345206520 | AGT | c.476A>C (p.Asp159Ala) n.987A>C c.503A>C (p.Asp168Ala) | |
1 | g.230710348T= | CA1226669704 | AGT | c.476A= (p.Asp159=) n.987A= c.503A= (p.Asp168=) | |
1 | g.230710349C>A | CA1448290 | AGT | c.475G>T (p.Asp159Tyr) n.986G>T c.502G>T (p.Asp168Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710349C= | CA1226669705 | AGT | c.475G= (p.Asp159=) n.986G= c.502G= (p.Asp168=) | |
1 | g.230710349C>G | CA345206522 | AGT | c.475G>C (p.Asp159His) n.986G>C c.502G>C (p.Asp168His) | |
1 | g.230710349C>T | CA345206524 | AGT | c.475G>A (p.Asp159Asn) n.986G>A c.502G>A (p.Asp168Asn) | |
1 | g.230710350C>A | CA345206526 | AGT | c.474G>T (p.Lys158Asn) n.985G>T c.501G>T (p.Lys167Asn) | |
1 | g.230710350C>G | CA345206528 | AGT | c.474G>C (p.Lys158Asn) n.985G>C c.501G>C (p.Lys167Asn) | |
1 | g.230710350C>T | CA424036659 | AGT | c.474G>A (p.Lys158=) n.985G>A c.501G>A (p.Lys167=) | |
1 | g.230710351T>A | CA345206530 | AGT | c.473A>T (p.Lys158Met) n.984A>T c.500A>T (p.Lys167Met) | |
1 | g.230710351T>C | CA345206531 | AGT | c.473A>G (p.Lys158Arg) n.984A>G c.500A>G (p.Lys167Arg) | |
1 | g.230710351T>G | CA345206532 | AGT | c.473A>C (p.Lys158Thr) n.984A>C c.500A>C (p.Lys167Thr) | |
1 | g.230710352T>A | CA345206536 | AGT | c.472A>T (p.Lys158Ter) n.983A>T c.499A>T (p.Lys167Ter) | |
1 | g.230710352T>C | CA345206535 | AGT | c.472A>G (p.Lys158Glu) n.983A>G c.499A>G (p.Lys167Glu) | |
1 | g.230710352T>G | CA345206534 | AGT | c.472A>C (p.Lys158Gln) n.983A>C c.499A>C (p.Lys167Gln) | |
1 | g.230710353C>A | CA345206538 | AGT | c.471G>T (p.Trp157Cys) n.982G>T c.498G>T (p.Trp166Cys) | |
1 | g.230710353C>G | CA345206539 | AGT | c.471G>C (p.Trp157Cys) n.982G>C c.498G>C (p.Trp166Cys) | |
1 | g.230710353C>T | CA345206540 | AGT | c.471G>A (p.Trp157Ter) n.982G>A c.498G>A (p.Trp166Ter) | |
1 | g.230710354C>A | CA345206542 | AGT | c.470G>T (p.Trp157Leu) n.981G>T c.497G>T (p.Trp166Leu) | |
1 | g.230710354C>G | CA345206543 | AGT | c.470G>C (p.Trp157Ser) n.981G>C c.497G>C (p.Trp166Ser) | |
1 | g.230710354C>T | CA345206545 | AGT | c.470G>A (p.Trp157Ter) n.981G>A c.497G>A (p.Trp166Ter) | |
1 | g.230710355A>C | CA345206546 | AGT | c.469T>G (p.Trp157Gly) n.980T>G c.496T>G (p.Trp166Gly) | |
1 | g.230710355A>G | CA345206548 | AGT | c.469T>C (p.Trp157Arg) n.980T>C c.496T>C (p.Trp166Arg) | |
1 | g.230710355A>T | CA345206549 | AGT | c.469T>A (p.Trp157Arg) n.980T>A c.496T>A (p.Trp166Arg) | |
1 | g.230710356A>C | CA424036670 | AGT | c.468T>G (p.Pro156=) n.979T>G c.495T>G (p.Pro165=) | |
1 | g.230710356A>G | CA424036671 | AGT | c.468T>C (p.Pro156=) n.979T>C c.495T>C (p.Pro165=) | |
1 | g.230710356A>T | CA424036672 | AGT | c.468T>A (p.Pro156=) n.979T>A c.495T>A (p.Pro165=) | |
1 | g.230710357G>A | CA345206550 | AGT | c.467C>T (p.Pro156Leu) n.978C>T c.494C>T (p.Pro165Leu) | |
1 | g.230710357G>C | CA345206551 | AGT | c.467C>G (p.Pro156Arg) n.978C>G c.494C>G (p.Pro165Arg) | |
1 | g.230710357G>T | CA345206553 | AGT | c.467C>A (p.Pro156His) n.978C>A c.494C>A (p.Pro165His) | |
1 | g.230710358G>A | CA345206558 | AGT | c.466C>T (p.Pro156Ser) n.977C>T c.493C>T (p.Pro165Ser) | |
1 | g.230710358G>C | CA345206557 | AGT | c.466C>G (p.Pro156Ala) n.977C>G c.493C>G (p.Pro165Ala) | |
1 | g.230710358G>T | CA345206555 | AGT | c.466C>A (p.Pro156Thr) n.977C>A c.493C>A (p.Pro165Thr) | |
1 | g.230710359A>C | CA424036681 | AGT | c.465T>G (p.Val155=) n.976T>G c.492T>G (p.Val164=) | |
1 | g.230710359A>G | CA424036683 | AGT | c.465T>C (p.Val155=) n.976T>C c.492T>C (p.Val164=) | |
1 | g.230710359A>T | CA424036684 | AGT | c.465T>A (p.Val155=) n.976T>A c.492T>A (p.Val164=) | |
1 | g.230710360A>C | CA345206560 | AGT | c.464T>G (p.Val155Gly) n.975T>G c.491T>G (p.Val164Gly) | |
1 | g.230710360A>G | CA345206561 | AGT | c.464T>C (p.Val155Ala) n.975T>C c.491T>C (p.Val164Ala) | |
1 | g.230710360A>T | CA345206562 | AGT | c.464T>A (p.Val155Asp) n.975T>A c.491T>A (p.Val164Asp) | |
1 | g.230710361C>A | CA345206564 | AGT | c.463G>T (p.Val155Phe) n.974G>T c.490G>T (p.Val164Phe) | |
1 | g.230710361C= | CA1226669706 | AGT | c.463G= (p.Val155=) n.974G= c.490G= (p.Val164=) | |
1 | g.230710361C>G | CA345206565 | AGT | c.463G>C (p.Val155Leu) n.974G>C c.490G>C (p.Val164Leu) | |
1 | g.230710361C>T | CA1448291 | AGT | c.463G>A (p.Val155Ile) n.974G>A c.490G>A (p.Val164Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710362A= | CA1226669707 | AGT | c.462T= (p.Gly154=) n.973T= c.489T= (p.Gly163=) | |
1 | g.230710362A>C | CA424036690 | AGT | c.462T>G (p.Gly154=) n.973T>G c.489T>G (p.Gly163=) | dbSNP gnomAD v4 |
1 | g.230710362A>G | CA424036691 | AGT | c.462T>C (p.Gly154=) n.973T>C c.489T>C (p.Gly163=) | |
1 | g.230710362A>T | CA424036692 | AGT | c.462T>A (p.Gly154=) n.973T>A c.489T>A (p.Gly163=) | |
1 | g.230710363C>A | CA345206568 | AGT | c.461G>T (p.Gly154Val) n.972G>T c.488G>T (p.Gly163Val) | |
1 | g.230710363C>G | CA345206569 | AGT | c.461G>C (p.Gly154Ala) n.972G>C c.488G>C (p.Gly163Ala) | |
1 | g.230710363C>T | CA345206570 | AGT | c.461G>A (p.Gly154Asp) n.972G>A c.488G>A (p.Gly163Asp) | |
1 | g.230710364C>A | CA345206572 | AGT | c.460G>T (p.Gly154Cys) n.971G>T c.487G>T (p.Gly163Cys) | |
1 | g.230710364C>G | CA345206574 | AGT | c.460G>C (p.Gly154Arg) n.971G>C c.487G>C (p.Gly163Arg) | |
1 | g.230710364C>T | CA345206575 | AGT | c.460G>A (p.Gly154Ser) n.971G>A c.487G>A (p.Gly163Ser) | gnomAD v4 |
1 | g.230710365C>A | CA424036700 | AGT | c.459G>T (p.Leu153=) n.970G>T c.486G>T (p.Leu162=) | |
1 | g.230710365C>G | CA424036702 | AGT | c.459G>C (p.Leu153=) n.970G>C c.486G>C (p.Leu162=) | |
1 | g.230710365C>T | CA424036704 | AGT | c.459G>A (p.Leu153=) n.970G>A c.486G>A (p.Leu162=) | |
1 | g.230710366A= | CA1226669708 | AGT | c.458T= (p.Leu153=) n.969T= c.485T= (p.Leu162=) | |
1 | g.230710366A>C | CA345206579 | AGT | c.458T>G (p.Leu153Arg) n.969T>G c.485T>G (p.Leu162Arg) | |
1 | g.230710366A>G | CA345206578 | AGT | c.458T>C (p.Leu153Pro) n.969T>C c.485T>C (p.Leu162Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710366A>T | CA345206577 | AGT | c.458T>A (p.Leu153Gln) n.969T>A c.485T>A (p.Leu162Gln) | |
1 | g.230710367G>A | CA424036707 | AGT | c.457C>T (p.Leu153=) n.968C>T c.484C>T (p.Leu162=) | |
1 | g.230710367G>C | CA345206581 | AGT | c.457C>G (p.Leu153Val) n.968C>G c.484C>G (p.Leu162Val) | dbSNP |
1 | g.230710367G= | CA1226669709 | AGT | c.457C= (p.Leu153=) n.968C= c.484C= (p.Leu162=) | |
1 | g.230710367G>T | CA345206583 | AGT | c.457C>A (p.Leu153Met) n.968C>A c.484C>A (p.Leu162Met) | |
1 | g.230710368G>A | CA424036711 | AGT | c.456C>T (p.Ile152=) n.967C>T c.483C>T (p.Ile161=) | gnomAD v4 COSMIC |
1 | g.230710368G>C | CA345206585 | AGT | c.456C>G (p.Ile152Met) n.967C>G c.483C>G (p.Ile161Met) | |
1 | g.230710368G>T | CA424036710 | AGT | c.456C>A (p.Ile152=) n.967C>A c.483C>A (p.Ile161=) | |
1 | g.230710369A>C | CA345206586 | AGT | c.455T>G (p.Ile152Ser) n.966T>G c.482T>G (p.Ile161Ser) | |
1 | g.230710369A>G | CA345206588 | AGT | c.455T>C (p.Ile152Thr) n.966T>C c.482T>C (p.Ile161Thr) | |
1 | g.230710369A>T | CA345206589 | AGT | c.455T>A (p.Ile152Asn) n.966T>A c.482T>A (p.Ile161Asn) | |
1 | g.230710369_230710370del | CA2650971414 | AGT | c.454_455del (p.Ile152ProfsTer?) n.965_966del c.481_482del (p.Ile161ProfsTer?) | gnomAD v4 |
1 | g.230710370T>A | CA345206591 | AGT | c.454A>T (p.Ile152Phe) n.965A>T c.481A>T (p.Ile161Phe) | |
1 | g.230710370T>C | CA1448292 | AGT | c.454A>G (p.Ile152Val) n.965A>G c.481A>G (p.Ile161Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710370T>G | CA345206593 | AGT | c.454A>C (p.Ile152Leu) n.965A>C c.481A>C (p.Ile161Leu) | |
1 | g.230710370T= | CA1226669710 | AGT | c.454A= (p.Ile152=) n.965A= c.481A= (p.Ile161=) | |
1 | g.230710371T>A | CA424036723 | AGT | c.453A>T (p.Ala151=) n.964A>T c.480A>T (p.Ala160=) | |
1 | g.230710371T>C | CA424036716 | AGT | c.453A>G (p.Ala151=) n.964A>G c.480A>G (p.Ala160=) | |
1 | g.230710371T>G | CA424036719 | AGT | c.453A>C (p.Ala151=) n.964A>C c.480A>C (p.Ala160=) | |
1 | g.230710372G>A | CA345206595 | AGT | c.452C>T (p.Ala151Val) n.963C>T c.479C>T (p.Ala160Val) | |
1 | g.230710372G>C | CA345206597 | AGT | c.452C>G (p.Ala151Gly) n.963C>G c.479C>G (p.Ala160Gly) | |
1 | g.230710372G>T | CA345206598 | AGT | c.452C>A (p.Ala151Glu) n.963C>A c.479C>A (p.Ala160Glu) | |
1 | g.230710373C>A | CA345206603 | AGT | c.451G>T (p.Ala151Ser) n.962G>T c.478G>T (p.Ala160Ser) | |
1 | g.230710373C>G | CA345206601 | AGT | c.451G>C (p.Ala151Pro) n.962G>C c.478G>C (p.Ala160Pro) | |
1 | g.230710373C>T | CA345206600 | AGT | c.451G>A (p.Ala151Thr) n.962G>A c.478G>A (p.Ala160Thr) | COSMIC |
1 | g.230710374C>A | CA345206604 | AGT | c.450G>T (p.Gln150His) n.961G>T c.477G>T (p.Gln159His) | |
1 | g.230710374C= | CA1226669711 | AGT | c.450G= (p.Gln150=) n.961G= c.477G= (p.Gln159=) | |
1 | g.230710374C>G | CA345206605 | AGT | c.450G>C (p.Gln150His) n.961G>C c.477G>C (p.Gln159His) | |
1 | g.230710374C>T | CA424036728 | AGT | c.450G>A (p.Gln150=) n.961G>A c.477G>A (p.Gln159=) | dbSNP |
1 | g.230710375T>A | CA345206607 | AGT | c.449A>T (p.Gln150Leu) n.960A>T c.476A>T (p.Gln159Leu) | |
1 | g.230710375T>C | CA345206608 | AGT | c.449A>G (p.Gln150Arg) n.960A>G c.476A>G (p.Gln159Arg) | dbSNP |
1 | g.230710375T>G | CA345206610 | AGT | c.449A>C (p.Gln150Pro) n.960A>C c.476A>C (p.Gln159Pro) | |
1 | g.230710375T= | CA1226669712 | AGT | c.449A= (p.Gln150=) n.960A= c.476A= (p.Gln159=) | |
1 | g.230710376G>A | CA345206612 | AGT | c.448C>T (p.Gln150Ter) n.959C>T c.475C>T (p.Gln159Ter) | dbSNP gnomAD v4 |
1 | g.230710376G>C | CA345206614 | AGT | c.448C>G (p.Gln150Glu) n.959C>G c.475C>G (p.Gln159Glu) | |
1 | g.230710376G= | CA1226669713 | AGT | c.448C= (p.Gln150=) n.959C= c.475C= (p.Gln159=) | |
1 | g.230710376G>T | CA345206615 | AGT | c.448C>A (p.Gln150Lys) n.959C>A c.475C>A (p.Gln159Lys) | |
1 | g.230710377T>A | CA424036737 | AGT | c.447A>T (p.Leu149=) n.958A>T c.474A>T (p.Leu158=) | |
1 | g.230710377T>C | CA424036738 | AGT | c.447A>G (p.Leu149=) n.958A>G c.474A>G (p.Leu158=) | dbSNP gnomAD v4 |
1 | g.230710377T>G | CA424036739 | AGT | c.447A>C (p.Leu149=) n.958A>C c.474A>C (p.Leu158=) | |
1 | g.230710377T= | CA1226669714 | AGT | c.447A= (p.Leu149=) n.958A= c.474A= (p.Leu158=) | |
1 | g.230710378A>C | CA345206616 | AGT | c.446T>G (p.Leu149Arg) n.957T>G c.473T>G (p.Leu158Arg) | |
1 | g.230710378A>G | CA345206618 | AGT | c.446T>C (p.Leu149Pro) n.957T>C c.473T>C (p.Leu158Pro) | |
1 | g.230710378A>T | CA345206620 | AGT | c.446T>A (p.Leu149Gln) n.957T>A c.473T>A (p.Leu158Gln) | |
1 | g.230710379G>A | CA424036744 | AGT | c.445C>T (p.Leu149=) n.956C>T c.472C>T (p.Leu158=) | |
1 | g.230710379G>C | CA345206621 | AGT | c.445C>G (p.Leu149Val) n.956C>G c.472C>G (p.Leu158Val) | |
1 | g.230710379G>T | CA345206623 | AGT | c.445C>A (p.Leu149Ile) n.956C>A c.472C>A (p.Leu158Ile) | |
1 | g.230710380C>A | CA345206624 | AGT | c.444G>T (p.Arg148Ser) n.955G>T c.471G>T (p.Arg157Ser) | |
1 | g.230710380C>G | CA345206626 | AGT | c.444G>C (p.Arg148Ser) n.955G>C c.471G>C (p.Arg157Ser) | |
1 | g.230710380C>T | CA424036750 | AGT | c.444G>A (p.Arg148=) n.955G>A c.471G>A (p.Arg157=) | |
1 | g.230710381C>A | CA345206628 | AGT | c.443G>T (p.Arg148Met) n.954G>T c.470G>T (p.Arg157Met) | |
1 | g.230710381C= | CA1226669715 | AGT | c.443G= (p.Arg148=) n.954G= c.470G= (p.Arg157=) | |
1 | g.230710381C>G | CA345206630 | AGT | c.443G>C (p.Arg148Thr) n.954G>C c.470G>C (p.Arg157Thr) | |
1 | g.230710381C>T | CA345206629 | AGT | c.443G>A (p.Arg148Lys) n.954G>A c.470G>A (p.Arg157Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710382T>A | CA345206631 | AGT | c.442A>T (p.Arg148Trp) n.953A>T c.469A>T (p.Arg157Trp) | |
1 | g.230710382T>C | CA345206633 | AGT | c.442A>G (p.Arg148Gly) n.953A>G c.469A>G (p.Arg157Gly) | |
1 | g.230710382T>G | CA424036755 | AGT | c.442A>C (p.Arg148=) n.953A>C c.469A>C (p.Arg157=) | gnomAD v4 |
1 | g.230710383G>A | CA424036758 | AGT | c.441C>T (p.Asp147=) n.952C>T c.468C>T (p.Asp156=) | |
1 | g.230710383G>C | CA345206635 | AGT | c.441C>G (p.Asp147Glu) n.952C>G c.468C>G (p.Asp156Glu) | |
1 | g.230710383G= | CA1226669716 | AGT | c.441C= (p.Asp147=) n.952C= c.468C= (p.Asp156=) | |
1 | g.230710383G>T | CA345206637 | AGT | c.441C>A (p.Asp147Glu) n.952C>A c.468C>A (p.Asp156Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.230710384T>A | CA345206638 | AGT | c.440A>T (p.Asp147Val) n.951A>T c.467A>T (p.Asp156Val) | |
1 | g.230710384T>C | CA1448293 | AGT | c.440A>G (p.Asp147Gly) n.951A>G c.467A>G (p.Asp156Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710384T>G | CA345206640 | AGT | c.440A>C (p.Asp147Ala) n.951A>C c.467A>C (p.Asp156Ala) | |
1 | g.230710384T= | CA1140727498 | AGT | c.440A= (p.Asp147=) n.951A= c.467A= (p.Asp156=) | |
1 | g.230710385C>A | CA345206641 | AGT | c.439G>T (p.Asp147Tyr) n.950G>T c.466G>T (p.Asp156Tyr) | |
1 | g.230710385C>G | CA345206643 | AGT | c.439G>C (p.Asp147His) n.950G>C c.466G>C (p.Asp156His) | gnomAD v4 COSMIC |
1 | g.230710385C>T | CA345206644 | AGT | c.439G>A (p.Asp147Asn) n.950G>A c.466G>A (p.Asp156Asn) | COSMIC |
1 | g.230710386A>C | CA424036760 | AGT | c.438T>G (p.Ala146=) n.949T>G c.465T>G (p.Ala155=) | |
1 | g.230710386A>G | CA424036761 | AGT | c.438T>C (p.Ala146=) n.949T>C c.465T>C (p.Ala155=) | |
1 | g.230710386A>T | CA424036762 | AGT | c.438T>A (p.Ala146=) n.949T>A c.465T>A (p.Ala155=) | |
1 | g.230710387G>A | CA1448294 | AGT | c.437C>T (p.Ala146Val) n.948C>T c.464C>T (p.Ala155Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710387G>C | CA345206648 | AGT | c.437C>G (p.Ala146Gly) n.948C>G c.464C>G (p.Ala155Gly) | |
1 | g.230710387G= | CA1141929753 | AGT | c.437C= (p.Ala146=) n.948C= c.464C= (p.Ala155=) | |
1 | g.230710387G>T | CA345206645 | AGT | c.437C>A (p.Ala146Asp) n.948C>A c.464C>A (p.Ala155Asp) | |
1 | g.230710388C>A | CA345206650 | AGT | c.436G>T (p.Ala146Ser) n.947G>T c.463G>T (p.Ala155Ser) | |
1 | g.230710388C= | CA1226669717 | AGT | c.436G= (p.Ala146=) n.947G= c.463G= (p.Ala155=) | |
1 | g.230710388C>G | CA345206651 | AGT | c.436G>C (p.Ala146Pro) n.947G>C c.463G>C (p.Ala155Pro) | |
1 | g.230710388C>T | CA345206653 | AGT | c.436G>A (p.Ala146Thr) n.947G>A c.463G>A (p.Ala155Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710389T>A | CA424036764 | AGT | c.435A>T (p.Thr145=) n.946A>T c.462A>T (p.Thr154=) | |
1 | g.230710389T>C | CA424036765 | AGT | c.435A>G (p.Thr145=) n.946A>G c.462A>G (p.Thr154=) | |
1 | g.230710389T>G | CA424036766 | AGT | c.435A>C (p.Thr145=) n.946A>C c.462A>C (p.Thr154=) | |
1 | g.230710393_230710394del | CA2574015666 | AGT | c.434_435del (p.Thr145SerfsTer2) n.945_946del c.461_462del (p.Thr154SerfsTer2) | |
1 | g.230710390G>A | CA1448295 | AGT | c.434C>T (p.Thr145Ile) n.945C>T c.461C>T (p.Thr154Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710390G>C | CA345206655 | AGT | c.434C>G (p.Thr145Arg) n.945C>G c.461C>G (p.Thr154Arg) | |
1 | g.230710390G= | CA1226669718 | AGT | c.434C= (p.Thr145=) n.945C= c.461C= (p.Thr154=) | |
1 | g.230710390G>T | CA345206656 | AGT | c.434C>A (p.Thr145Lys) n.945C>A c.461C>A (p.Thr154Lys) | |
1 | g.230710391T>A | CA345206659 | AGT | c.433A>T (p.Thr145Ser) n.944A>T c.460A>T (p.Thr154Ser) | |
1 | g.230710391T>C | CA345206657 | AGT | c.433A>G (p.Thr145Ala) n.944A>G c.460A>G (p.Thr154Ala) | dbSNP |
1 | g.230710391T>G | CA345206658 | AGT | c.433A>C (p.Thr145Pro) n.944A>C c.460A>C (p.Thr154Pro) | gnomAD v4 |
1 | g.230710391T= | CA1226669719 | AGT | c.433A= (p.Thr145=) n.944A= c.460A= (p.Thr154=) | |
1 | g.230710392G>A | CA424036769 | AGT | c.432C>T (p.His144=) n.943C>T c.459C>T (p.His153=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710392G>C | CA345206660 | AGT | c.432C>G (p.His144Gln) n.943C>G c.459C>G (p.His153Gln) | |
1 | g.230710392G= | CA1226669720 | AGT | c.432C= (p.His144=) n.943C= c.459C= (p.His153=) | |
1 | g.230710392G>T | CA345206661 | AGT | c.432C>A (p.His144Gln) n.943C>A c.459C>A (p.His153Gln) | |
1 | g.230710393T>A | CA345206662 | AGT | c.431A>T (p.His144Leu) n.942A>T c.458A>T (p.His153Leu) | |
1 | g.230710393T>C | CA345206663 | AGT | c.431A>G (p.His144Arg) n.942A>G c.458A>G (p.His153Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710393T>G | CA345206664 | AGT | c.431A>C (p.His144Pro) n.942A>C c.458A>C (p.His153Pro) | |
1 | g.230710393T= | CA1226669721 | AGT | c.431A= (p.His144=) n.942A= c.458A= (p.His153=) | |
1 | g.230710394G>A | CA345206665 | AGT | c.430C>T (p.His144Tyr) n.941C>T c.457C>T (p.His153Tyr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.230710394G>C | CA345206667 | AGT | c.430C>G (p.His144Asp) n.941C>G c.457C>G (p.His153Asp) | gnomAD v4 |
1 | g.230710394G= | CA1226669722 | AGT | c.430C= (p.His144=) n.941C= c.457C= (p.His153=) | |
1 | g.230710394G>T | CA345206666 | AGT | c.430C>A (p.His144Asn) n.941C>A c.457C>A (p.His153Asn) | |
1 | g.230710395G>A | CA424036771 | AGT | c.429C>T (p.Asp143=) n.940C>T c.456C>T (p.Asp152=) | |
1 | g.230710395G>C | CA345206668 | AGT | c.429C>G (p.Asp143Glu) n.940C>G c.456C>G (p.Asp152Glu) | |
1 | g.230710395G>T | CA345206669 | AGT | c.429C>A (p.Asp143Glu) n.940C>A c.456C>A (p.Asp152Glu) | |
1 | g.230710396T>A | CA345206670 | AGT | c.428A>T (p.Asp143Val) n.939A>T c.455A>T (p.Asp152Val) | |
1 | g.230710396T>C | CA345206671 | AGT | c.428A>G (p.Asp143Gly) n.939A>G c.455A>G (p.Asp152Gly) | |
1 | g.230710396T>G | CA345206672 | AGT | c.428A>C (p.Asp143Ala) n.939A>C c.455A>C (p.Asp152Ala) | |
1 | g.230710397C>A | CA345206673 | AGT | c.427G>T (p.Asp143Tyr) n.938G>T c.454G>T (p.Asp152Tyr) | |
1 | g.230710397C>G | CA345206674 | AGT | c.427G>C (p.Asp143His) n.938G>C c.454G>C (p.Asp152His) | |
1 | g.230710397C>T | CA345206675 | AGT | c.427G>A (p.Asp143Asn) n.938G>A c.454G>A (p.Asp152Asn) | |
1 | g.230710398C>A | CA345206676 | AGT | c.426G>T (p.Leu142Phe) n.937G>T c.453G>T (p.Leu151Phe) | |
1 | g.230710398C= | CA1226669723 | AGT | c.426G= (p.Leu142=) n.937G= c.453G= (p.Leu151=) | |
1 | g.230710398C>G | CA345206677 | AGT | c.426G>C (p.Leu142Phe) n.937G>C c.453G>C (p.Leu151Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710398C>T | CA424036774 | AGT | c.426G>A (p.Leu142=) n.937G>A c.453G>A (p.Leu151=) | |
1 | g.230710399A= | CA1142347657 | AGT | c.425T= (p.Leu142=) n.936T= c.452T= (p.Leu151=) | |
1 | g.230710399A>C | CA1448296 | AGT | c.425T>G (p.Leu142Trp) n.936T>G c.452T>G (p.Leu151Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710399A>G | CA1448297 | AGT | c.425T>C (p.Leu142Ser) n.936T>C c.452T>C (p.Leu151Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710399A>T | CA345206678 | AGT | c.425T>A (p.Leu142Ter) n.936T>A c.452T>A (p.Leu151Ter) | |
1 | g.230710400A>C | CA345206679 | AGT | c.424T>G (p.Leu142Val) n.935T>G c.451T>G (p.Leu151Val) | |
1 | g.230710400A>G | CA424036778 | AGT | c.424T>C (p.Leu142=) n.935T>C c.451T>C (p.Leu151=) | |
1 | g.230710400A>T | CA345206680 | AGT | c.424T>A (p.Leu142Met) n.935T>A c.451T>A (p.Leu151Met) | |
1 | g.230710401G>A | CA424036782 | AGT | c.423C>T (p.Ala141=) n.934C>T c.450C>T (p.Ala150=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710401G>C | CA424036784 | AGT | c.423C>G (p.Ala141=) n.934C>G c.450C>G (p.Ala150=) | |
1 | g.230710401G= | CA1226669724 | AGT | c.423C= (p.Ala141=) n.934C= c.450C= (p.Ala150=) | |
1 | g.230710401G>T | CA424036783 | AGT | c.423C>A (p.Ala141=) n.934C>A c.450C>A (p.Ala150=) | |
1 | g.230710402G>A | CA345206681 | AGT | c.422C>T (p.Ala141Val) n.933C>T c.449C>T (p.Ala150Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710402G>C | CA345206683 | AGT | c.422C>G (p.Ala141Gly) n.933C>G c.449C>G (p.Ala150Gly) | |
1 | g.230710402G= | CA1226669725 | AGT | c.422C= (p.Ala141=) n.933C= c.449C= (p.Ala150=) | |
1 | g.230710402G>T | CA345206682 | AGT | c.422C>A (p.Ala141Asp) n.933C>A c.449C>A (p.Ala150Asp) |