Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.40472222C>A | CA391768573 | CHST14 | c.1009C>A (p.His337Asn) c.934C>A (p.His312Asn) | |
15 | g.40472222C>G | CA391768575 | CHST14 | c.1009C>G (p.His337Asp) c.934C>G (p.His312Asp) | |
15 | g.40472222C>T | CA391768574 | CHST14 | c.1009C>T (p.His337Tyr) c.934C>T (p.His312Tyr) | |
15 | g.40472223A= | CA2171795446 | CHST14 | c.1010A= (p.His337=) c.935A= (p.His312=) | |
15 | g.40472223A>C | CA391768576 | CHST14 | c.1010A>C (p.His337Pro) c.935A>C (p.His312Pro) | |
15 | g.40472223A>G | CA7481685 | CHST14 | c.1010A>G (p.His337Arg) c.935A>G (p.His312Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472223A>T | CA391768579 | CHST14 | c.1010A>T (p.His337Leu) c.935A>T (p.His312Leu) | |
15 | g.40472224T>A | CA391768582 | CHST14 | c.1011T>A (p.His337Gln) c.936T>A (p.His312Gln) | |
15 | g.40472224T>C | CA489975391 | CHST14 | c.1011T>C (p.His337=) c.936T>C (p.His312=) | |
15 | g.40472224T>G | CA391768586 | CHST14 | c.1011T>G (p.His337Gln) c.936T>G (p.His312Gln) | |
15 | g.40472225T>A | CA391768590 | CHST14 | c.1012T>A (p.Tyr338Asn) c.937T>A (p.Tyr313Asn) | |
15 | g.40472225T>C | CA391768593 | CHST14 | c.1012T>C (p.Tyr338His) c.937T>C (p.Tyr313His) | |
15 | g.40472225T>G | CA391768596 | CHST14 | c.1012T>G (p.Tyr338Asp) c.937T>G (p.Tyr313Asp) | |
15 | g.40472226A>C | CA391768599 | CHST14 | c.1013A>C (p.Tyr338Ser) c.938A>C (p.Tyr313Ser) | |
15 | g.40472226A>G | CA391768602 | CHST14 | c.1013A>G (p.Tyr338Cys) c.938A>G (p.Tyr313Cys) | |
15 | g.40472226A>T | CA391768605 | CHST14 | c.1013A>T (p.Tyr338Phe) c.938A>T (p.Tyr313Phe) | |
15 | g.40472227C>A | CA391768608 | CHST14 | c.1014C>A (p.Tyr338Ter) c.939C>A (p.Tyr313Ter) | |
15 | g.40472227C= | CA2171795447 | CHST14 | c.1014C= (p.Tyr338=) c.939C= (p.Tyr313=) | |
15 | g.40472227C>G | CA391768611 | CHST14 | c.1014C>G (p.Tyr338Ter) c.939C>G (p.Tyr313Ter) | |
15 | g.40472227C>T | CA489975395 | CHST14 | c.1014C>T (p.Tyr338=) c.939C>T (p.Tyr313=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472228C>A | CA391768615 | CHST14 | c.1015C>A (p.His339Asn) c.940C>A (p.His314Asn) | |
15 | g.40472228C>G | CA391768617 | CHST14 | c.1015C>G (p.His339Asp) c.940C>G (p.His314Asp) | |
15 | g.40472228C>T | CA391768618 | CHST14 | c.1015C>T (p.His339Tyr) c.940C>T (p.His314Tyr) | |
15 | g.40472229A= | CA2171795448 | CHST14 | c.1016A= (p.His339=) c.941A= (p.His314=) | |
15 | g.40472229A>C | CA391768625 | CHST14 | c.1016A>C (p.His339Pro) c.941A>C (p.His314Pro) | dbSNP |
15 | g.40472229A>G | CA391768629 | CHST14 | c.1016A>G (p.His339Arg) c.941A>G (p.His314Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472229A>T | CA391768634 | CHST14 | c.1016A>T (p.His339Leu) c.941A>T (p.His314Leu) | dbSNP gnomAD v4 |
15 | g.40472230C>A | CA391768637 | CHST14 | c.1017C>A (p.His339Gln) c.942C>A (p.His314Gln) | COSMIC |
15 | g.40472230C>G | CA391768639 | CHST14 | c.1017C>G (p.His339Gln) c.942C>G (p.His314Gln) | |
15 | g.40472230C>T | CA489975397 | CHST14 | c.1017C>T (p.His339=) c.942C>T (p.His314=) | |
15 | g.40472231T>A | CA391768643 | CHST14 | c.1018T>A (p.Leu340Met) c.943T>A (p.Leu315Met) | |
15 | g.40472231T>C | CA489975401 | CHST14 | c.1018T>C (p.Leu340=) c.943T>C (p.Leu315=) | gnomAD v4 |
15 | g.40472231T>G | CA391768645 | CHST14 | c.1018T>G (p.Leu340Val) c.943T>G (p.Leu315Val) | |
15 | g.40472232T>A | CA391768650 | CHST14 | c.1019T>A (p.Leu340Ter) c.944T>A (p.Leu315Ter) | |
15 | g.40472232T>C | CA391768652 | CHST14 | c.1019T>C (p.Leu340Ser) c.944T>C (p.Leu315Ser) | ClinVar |
15 | g.40472232T>G | CA391768647 | CHST14 | c.1019T>G (p.Leu340Trp) c.944T>G (p.Leu315Trp) | |
15 | g.40472233G>A | CA489975402 | CHST14 | c.1020G>A (p.Leu340=) c.945G>A (p.Leu315=) | |
15 | g.40472233G>C | CA391768657 | CHST14 | c.1020G>C (p.Leu340Phe) c.945G>C (p.Leu315Phe) | gnomAD v4 |
15 | g.40472233G>T | CA391768660 | CHST14 | c.1020G>T (p.Leu340Phe) c.945G>T (p.Leu315Phe) | gnomAD v4 |
15 | g.40472234T>A | CA391768663 | CHST14 | c.1021T>A (p.Cys341Ser) c.946T>A (p.Cys316Ser) | |
15 | g.40472234T>C | CA391768664 | CHST14 | c.1021T>C (p.Cys341Arg) c.946T>C (p.Cys316Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472234T>G | CA391768667 | CHST14 | c.1021T>G (p.Cys341Gly) c.946T>G (p.Cys316Gly) | |
15 | g.40472234T= | CA2171795449 | CHST14 | c.1021T= (p.Cys341=) c.946T= (p.Cys316=) | |
15 | g.40472235G>A | CA391768673 | CHST14 | c.1022G>A (p.Cys341Tyr) c.947G>A (p.Cys316Tyr) | |
15 | g.40472235G>C | CA391768669 | CHST14 | c.1022G>C (p.Cys341Ser) c.947G>C (p.Cys316Ser) | |
15 | g.40472235G>T | CA391768671 | CHST14 | c.1022G>T (p.Cys341Phe) c.947G>T (p.Cys316Phe) | |
15 | g.40472235dup | CA489975406 | CHST14 | c.1022dup (p.Cys341TrpfsTer14) c.947dup (p.Cys316TrpfsTer14) | |
15 | g.40472236C>A | CA391768675 | CHST14 | c.1023C>A (p.Cys341Ter) c.948C>A (p.Cys316Ter) | |
15 | g.40472236C>G | CA391768678 | CHST14 | c.1023C>G (p.Cys341Trp) c.948C>G (p.Cys316Trp) | |
15 | g.40472236C>T | CA489975409 | CHST14 | c.1023C>T (p.Cys341=) c.948C>T (p.Cys316=) | |
15 | g.40472237A= | CA2171795450 | CHST14 | c.1024A= (p.Ser342=) c.949A= (p.Ser317=) | |
15 | g.40472237A>C | CA391768680 | CHST14 | c.1024A>C (p.Ser342Arg) c.949A>C (p.Ser317Arg) | |
15 | g.40472237A>G | CA7481686 | CHST14 | c.1024A>G (p.Ser342Gly) c.949A>G (p.Ser317Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40472237A>T | CA391768684 | CHST14 | c.1024A>T (p.Ser342Cys) c.949A>T (p.Ser317Cys) | |
15 | g.40472238G>A | CA391768688 | CHST14 | c.1025G>A (p.Ser342Asn) c.950G>A (p.Ser317Asn) | |
15 | g.40472238G>C | CA391768696 | CHST14 | c.1025G>C (p.Ser342Thr) c.950G>C (p.Ser317Thr) | |
15 | g.40472238G>T | CA391768694 | CHST14 | c.1025G>T (p.Ser342Ile) c.950G>T (p.Ser317Ile) | |
15 | g.40472239T>A | CA391768697 | CHST14 | c.1026T>A (p.Ser342Arg) c.951T>A (p.Ser317Arg) | |
15 | g.40472239T>C | CA489975410 | CHST14 | c.1026T>C (p.Ser342=) c.951T>C (p.Ser317=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472239T>G | CA391768698 | CHST14 | c.1026T>G (p.Ser342Arg) c.951T>G (p.Ser317Arg) | |
15 | g.40472239T= | CA2171795451 | CHST14 | c.1026T= (p.Ser342=) c.951T= (p.Ser317=) | |
15 | g.40472240G>A | CA391768700 | CHST14 | c.1027G>A (p.Ala343Thr) c.952G>A (p.Ala318Thr) | gnomAD v4 |
15 | g.40472240G>C | CA391768701 | CHST14 | c.1027G>C (p.Ala343Pro) c.952G>C (p.Ala318Pro) | |
15 | g.40472240G>T | CA391768703 | CHST14 | c.1027G>T (p.Ala343Ser) c.952G>T (p.Ala318Ser) | |
15 | g.40472240_40472241delinsGC | CA2171795452 | CHST14 | c.1027_1028delinsGC (p.Ala343=) c.952_953delinsGC (p.Ala318=) | |
15 | g.40472241C>A | CA391768705 | CHST14 | c.1028C>A (p.Ala343Asp) c.953C>A (p.Ala318Asp) | |
15 | g.40472241C= | CA2171795454 | CHST14 | c.1028C= (p.Ala343=) c.953C= (p.Ala318=) | |
15 | g.40472241C>G | CA7481688 | CHST14 | c.1028C>G (p.Ala343Gly) c.953C>G (p.Ala318Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40472241C>T | CA391768708 | CHST14 | c.1028C>T (p.Ala343Val) c.953C>T (p.Ala318Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472246dup | CA7481687 | CHST14 | c.1033dup (p.Arg345ProfsTer10) c.958dup (p.Arg320ProfsTer10) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40472246del | CA2171795453 | CHST14 | c.1033del (p.Arg345GlyfsTer?) c.958del (p.Arg320GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
15 | g.40472242C>A | CA489975412 | CHST14 | c.1029C>A (p.Ala343=) c.954C>A (p.Ala318=) | gnomAD v4 |
15 | g.40472242C>G | CA489975413 | CHST14 | c.1029C>G (p.Ala343=) c.954C>G (p.Ala318=) | |
15 | g.40472242C>T | CA489975414 | CHST14 | c.1029C>T (p.Ala343=) c.954C>T (p.Ala318=) | gnomAD v4 |
15 | g.40472243C>A | CA391768710 | CHST14 | c.1030C>A (p.Pro344Thr) c.955C>A (p.Pro319Thr) | |
15 | g.40472243C>G | CA391768713 | CHST14 | c.1030C>G (p.Pro344Ala) c.955C>G (p.Pro319Ala) | |
15 | g.40472243C>T | CA391768715 | CHST14 | c.1030C>T (p.Pro344Ser) c.955C>T (p.Pro319Ser) | gnomAD v4 |
15 | g.40472244C>A | CA391768719 | CHST14 | c.1031C>A (p.Pro344His) c.956C>A (p.Pro319His) | |
15 | g.40472244C>G | CA391768722 | CHST14 | c.1031C>G (p.Pro344Arg) c.956C>G (p.Pro319Arg) | gnomAD v4 |
15 | g.40472244C>T | CA391768716 | CHST14 | c.1031C>T (p.Pro344Leu) c.956C>T (p.Pro319Leu) | |
15 | g.40472245C>A | CA489975420 | CHST14 | c.1032C>A (p.Pro344=) c.957C>A (p.Pro319=) | |
15 | g.40472245C>G | CA489975419 | CHST14 | c.1032C>G (p.Pro344=) c.957C>G (p.Pro319=) | |
15 | g.40472245C>T | CA489975418 | CHST14 | c.1032C>T (p.Pro344=) c.957C>T (p.Pro319=) | |
15 | g.40472246C>A | CA489975421 | CHST14 | c.1033C>A (p.Arg345=) c.958C>A (p.Arg320=) | |
15 | g.40472246C= | CA2171795455 | CHST14 | c.1033C= (p.Arg345=) c.958C= (p.Arg320=) | |
15 | g.40472246C>G | CA7481689 | CHST14 | c.1033C>G (p.Arg345Gly) c.958C>G (p.Arg320Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472246C>T | CA7481690 | CHST14 | c.1033C>T (p.Arg345Trp) c.958C>T (p.Arg320Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472247G>A | CA268823032 | CHST14 | c.1034G>A (p.Arg345Gln) c.959G>A (p.Arg320Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472247G>C | CA391768730 | CHST14 | c.1034G>C (p.Arg345Pro) c.959G>C (p.Arg320Pro) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472247G= | CA2171795456 | CHST14 | c.1034G= (p.Arg345=) c.959G= (p.Arg320=) | |
15 | g.40472247G>T | CA391768732 | CHST14 | c.1034G>T (p.Arg345Leu) c.959G>T (p.Arg320Leu) | |
15 | g.40472249dup | CA2627824992 | CHST14 | c.1036dup (p.Ala346GlyfsTer9) c.961dup (p.Ala321GlyfsTer9) | gnomAD v4 |
15 | g.40472248G>A | CA489975425 | CHST14 | c.1035G>A (p.Arg345=) c.960G>A (p.Arg320=) | dbSNP |
15 | g.40472248G>C | CA489975426 | CHST14 | c.1035G>C (p.Arg345=) c.960G>C (p.Arg320=) | |
15 | g.40472248G>T | CA489975427 | CHST14 | c.1035G>T (p.Arg345=) c.960G>T (p.Arg320=) | |
15 | g.40472249G>A | CA391768733 | CHST14 | c.1036G>A (p.Ala346Thr) c.961G>A (p.Ala321Thr) | gnomAD v4 |
15 | g.40472249G>C | CA7481691 | CHST14 | c.1036G>C (p.Ala346Pro) c.961G>C (p.Ala321Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472249G= | CA2171795457 | CHST14 | c.1036G= (p.Ala346=) c.961G= (p.Ala321=) | |
15 | g.40472249G>T | CA391768736 | CHST14 | c.1036G>T (p.Ala346Ser) c.961G>T (p.Ala321Ser) | |
15 | g.40472250C>A | CA391768739 | CHST14 | c.1037C>A (p.Ala346Asp) c.962C>A (p.Ala321Asp) | |
15 | g.40472250C>G | CA391768741 | CHST14 | c.1037C>G (p.Ala346Gly) c.962C>G (p.Ala321Gly) | gnomAD v4 |
15 | g.40472250C>T | CA391768745 | CHST14 | c.1037C>T (p.Ala346Val) c.962C>T (p.Ala321Val) | |
15 | g.40472251C>A | CA268823035 | CHST14 | c.1038C>A (p.Ala346=) c.963C>A (p.Ala321=) | dbSNP |
15 | g.40472251C= | CA2171795458 | CHST14 | c.1038C= (p.Ala346=) c.963C= (p.Ala321=) | |
15 | g.40472251C>G | CA489975431 | CHST14 | c.1038C>G (p.Ala346=) c.963C>G (p.Ala321=) | |
15 | g.40472251C>T | CA489975429 | CHST14 | c.1038C>T (p.Ala346=) c.963C>T (p.Ala321=) | ClinVar |
15 | g.40472252C>A | CA391768747 | CHST14 | c.1039C>A (p.Leu347Met) c.964C>A (p.Leu322Met) | |
15 | g.40472252C>G | CA391768748 | CHST14 | c.1039C>G (p.Leu347Val) c.964C>G (p.Leu322Val) | |
15 | g.40472252C>T | CA489975434 | CHST14 | c.1039C>T (p.Leu347=) c.964C>T (p.Leu322=) | |
15 | g.40472253T>A | CA391768751 | CHST14 | c.1040T>A (p.Leu347Gln) c.965T>A (p.Leu322Gln) | |
15 | g.40472253T>C | CA391768753 | CHST14 | c.1040T>C (p.Leu347Pro) c.965T>C (p.Leu322Pro) | gnomAD v4 |
15 | g.40472253T>G | CA391768749 | CHST14 | c.1040T>G (p.Leu347Arg) c.965T>G (p.Leu322Arg) | |
15 | g.40472254G>A | CA489975435 | CHST14 | c.1041G>A (p.Leu347=) c.966G>A (p.Leu322=) | gnomAD v4 |
15 | g.40472254G>C | CA489975436 | CHST14 | c.1041G>C (p.Leu347=) c.966G>C (p.Leu322=) | gnomAD v4 |
15 | g.40472254G>T | CA489975438 | CHST14 | c.1041G>T (p.Leu347=) c.966G>T (p.Leu322=) | |
15 | g.40472255C>A | CA391768755 | CHST14 | c.1042C>A (p.Leu348Met) c.967C>A (p.Leu323Met) | |
15 | g.40472255C>G | CA391768758 | CHST14 | c.1042C>G (p.Leu348Val) c.967C>G (p.Leu323Val) | |
15 | g.40472255C>T | CA489975439 | CHST14 | c.1042C>T (p.Leu348=) c.967C>T (p.Leu323=) | |
15 | g.40472256T>A | CA391768760 | CHST14 | c.1043T>A (p.Leu348Gln) c.968T>A (p.Leu323Gln) | |
15 | g.40472256T>C | CA391768763 | CHST14 | c.1043T>C (p.Leu348Pro) c.968T>C (p.Leu323Pro) | |
15 | g.40472256T>G | CA391768765 | CHST14 | c.1043T>G (p.Leu348Arg) c.968T>G (p.Leu323Arg) | gnomAD v4 |
15 | g.40472257G>A | CA489975440 | CHST14 | c.1044G>A (p.Leu348=) c.969G>A (p.Leu323=) | dbSNP |
15 | g.40472257G>C | CA489975441 | CHST14 | c.1044G>C (p.Leu348=) c.969G>C (p.Leu323=) | |
15 | g.40472257G>T | CA489975443 | CHST14 | c.1044G>T (p.Leu348=) c.969G>T (p.Leu323=) | |
15 | g.40472258C>A | CA391768772 | CHST14 | c.1045C>A (p.Gln349Lys) c.970C>A (p.Gln324Lys) | |
15 | g.40472258C>G | CA391768767 | CHST14 | c.1045C>G (p.Gln349Glu) c.970C>G (p.Gln324Glu) | |
15 | g.40472258C>T | CA391768769 | CHST14 | c.1045C>T (p.Gln349Ter) c.970C>T (p.Gln324Ter) | |
15 | g.40472259A= | CA2171795459 | CHST14 | c.1046A= (p.Gln349=) c.971A= (p.Gln324=) | |
15 | g.40472259A>C | CA391768780 | CHST14 | c.1046A>C (p.Gln349Pro) c.971A>C (p.Gln324Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472259A>G | CA391768782 | CHST14 | c.1046A>G (p.Gln349Arg) c.971A>G (p.Gln324Arg) | |
15 | g.40472259A>T | CA391768783 | CHST14 | c.1046A>T (p.Gln349Leu) c.971A>T (p.Gln324Leu) | ClinVar gnomAD v4 |
15 | g.40472260G>A | CA489975448 | CHST14 | c.1047G>A (p.Gln349=) c.972G>A (p.Gln324=) | |
15 | g.40472260G>C | CA7481692 | CHST14 | c.1047G>C (p.Gln349His) c.972G>C (p.Gln324His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472260G= | CA2171795460 | CHST14 | c.1047G= (p.Gln349=) c.972G= (p.Gln324=) | |
15 | g.40472260G>T | CA391768787 | CHST14 | c.1047G>T (p.Gln349His) c.972G>T (p.Gln324His) | |
15 | g.40472261G>A | CA391768793 | CHST14 | c.1048G>A (p.Asp350Asn) c.973G>A (p.Asp325Asn) | |
15 | g.40472261G>C | CA391768791 | CHST14 | c.1048G>C (p.Asp350His) c.973G>C (p.Asp325His) | |
15 | g.40472261G>T | CA391768789 | CHST14 | c.1048G>T (p.Asp350Tyr) c.973G>T (p.Asp325Tyr) | gnomAD v4 |
15 | g.40472262A>C | CA391768795 | CHST14 | c.1049A>C (p.Asp350Ala) c.974A>C (p.Asp325Ala) | |
15 | g.40472262A>G | CA391768798 | CHST14 | c.1049A>G (p.Asp350Gly) c.974A>G (p.Asp325Gly) | |
15 | g.40472262A>T | CA391768801 | CHST14 | c.1049A>T (p.Asp350Val) c.974A>T (p.Asp325Val) | |
15 | g.40472263T>A | CA391768804 | CHST14 | c.1050T>A (p.Asp350Glu) c.975T>A (p.Asp325Glu) | |
15 | g.40472263T>C | CA489975452 | CHST14 | c.1050T>C (p.Asp350=) c.975T>C (p.Asp325=) | |
15 | g.40472263T>G | CA391768806 | CHST14 | c.1050T>G (p.Asp350Glu) c.975T>G (p.Asp325Glu) | |
15 | g.40472264G>A | CA391768815 | CHST14 | c.1051G>A (p.Val351Met) c.976G>A (p.Val326Met) | gnomAD v4 |
15 | g.40472264G>C | CA391768812 | CHST14 | c.1051G>C (p.Val351Leu) c.976G>C (p.Val326Leu) | |
15 | g.40472264G>T | CA391768810 | CHST14 | c.1051G>T (p.Val351Leu) c.976G>T (p.Val326Leu) | |
15 | g.40472265T>A | CA391768818 | CHST14 | c.1052T>A (p.Val351Glu) c.977T>A (p.Val326Glu) | |
15 | g.40472265T>C | CA391768819 | CHST14 | c.1052T>C (p.Val351Ala) c.977T>C (p.Val326Ala) | |
15 | g.40472265T>G | CA391768822 | CHST14 | c.1052T>G (p.Val351Gly) c.977T>G (p.Val326Gly) | |
15 | g.40472266G>A | CA7481693 | CHST14 | c.1053G>A (p.Val351=) c.978G>A (p.Val326=) | ClinVar dbSNP ExAC gnomAD v2 |
15 | g.40472266G>C | CA489975455 | CHST14 | c.1053G>C (p.Val351=) c.978G>C (p.Val326=) | |
15 | g.40472266G= | CA2171795461 | CHST14 | c.1053G= (p.Val351=) c.978G= (p.Val326=) | |
15 | g.40472266G>T | CA489975456 | CHST14 | c.1053G>T (p.Val351=) c.978G>T (p.Val326=) | |
15 | g.40472267C>A | CA391768826 | CHST14 | c.1054C>A (p.Leu352Met) c.979C>A (p.Leu327Met) | |
15 | g.40472267C>G | CA391768829 | CHST14 | c.1054C>G (p.Leu352Val) c.979C>G (p.Leu327Val) | |
15 | g.40472267C>T | CA489975459 | CHST14 | c.1054C>T (p.Leu352=) c.979C>T (p.Leu327=) | |
15 | g.40472268T>A | CA391768831 | CHST14 | c.1055T>A (p.Leu352Gln) c.980T>A (p.Leu327Gln) | |
15 | g.40472268T>C | CA391768834 | CHST14 | c.1055T>C (p.Leu352Pro) c.980T>C (p.Leu327Pro) | |
15 | g.40472268T>G | CA391768833 | CHST14 | c.1055T>G (p.Leu352Arg) c.980T>G (p.Leu327Arg) | |
15 | g.40472269G>A | CA489975460 | CHST14 | c.1056G>A (p.Leu352=) c.981G>A (p.Leu327=) | gnomAD v4 |
15 | g.40472269G>C | CA489975461 | CHST14 | c.1056G>C (p.Leu352=) c.981G>C (p.Leu327=) | gnomAD v4 |
15 | g.40472269G>T | CA489975462 | CHST14 | c.1056G>T (p.Leu352=) c.981G>T (p.Leu327=) | |
15 | g.40472270C>A | CA391768836 | CHST14 | c.1057C>A (p.Pro353Thr) c.982C>A (p.Pro328Thr) | |
15 | g.40472270C>G | CA391768837 | CHST14 | c.1057C>G (p.Pro353Ala) c.982C>G (p.Pro328Ala) | gnomAD v4 |
15 | g.40472270C>T | CA391768839 | CHST14 | c.1057C>T (p.Pro353Ser) c.982C>T (p.Pro328Ser) | |
15 | g.40472271C>A | CA391768840 | CHST14 | c.1058C>A (p.Pro353His) c.983C>A (p.Pro328His) | |
15 | g.40472271C>G | CA391768842 | CHST14 | c.1058C>G (p.Pro353Arg) c.983C>G (p.Pro328Arg) | |
15 | g.40472271C>T | CA391768845 | CHST14 | c.1058C>T (p.Pro353Leu) c.983C>T (p.Pro328Leu) | gnomAD v4 |
15 | g.40472272T>A | CA489975468 | CHST14 | c.1059T>A (p.Pro353=) c.984T>A (p.Pro328=) | gnomAD v4 |
15 | g.40472272T>C | CA489975469 | CHST14 | c.1059T>C (p.Pro353=) c.984T>C (p.Pro328=) | |
15 | g.40472272T>G | CA489975467 | CHST14 | c.1059T>G (p.Pro353=) c.984T>G (p.Pro328=) | |
15 | g.40472273A>C | CA391768847 | CHST14 | c.1060A>C (p.Lys354Gln) c.985A>C (p.Lys329Gln) | |
15 | g.40472273A>G | CA391768849 | CHST14 | c.1060A>G (p.Lys354Glu) c.985A>G (p.Lys329Glu) | |
15 | g.40472273A>T | CA391768851 | CHST14 | c.1060A>T (p.Lys354Ter) c.985A>T (p.Lys329Ter) | |
15 | g.40472274A>C | CA391768854 | CHST14 | c.1061A>C (p.Lys354Thr) c.986A>C (p.Lys329Thr) | |
15 | g.40472274A>G | CA391768856 | CHST14 | c.1061A>G (p.Lys354Arg) c.986A>G (p.Lys329Arg) | |
15 | g.40472274A>T | CA391768858 | CHST14 | c.1061A>T (p.Lys354Met) c.986A>T (p.Lys329Met) | |
15 | g.40472275G>A | CA489975473 | CHST14 | c.1062G>A (p.Lys354=) c.987G>A (p.Lys329=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472275G>C | CA391768865 | CHST14 | c.1062G>C (p.Lys354Asn) c.987G>C (p.Lys329Asn) | |
15 | g.40472275G= | CA2171795462 | CHST14 | c.1062G= (p.Lys354=) c.987G= (p.Lys329=) | |
15 | g.40472275G>T | CA391768866 | CHST14 | c.1062G>T (p.Lys354Asn) c.987G>T (p.Lys329Asn) | |
15 | g.40472276T>A | CA391768870 | CHST14 | c.1063T>A (p.Tyr355Asn) c.988T>A (p.Tyr330Asn) | |
15 | g.40472276T>C | CA391768874 | CHST14 | c.1063T>C (p.Tyr355His) c.988T>C (p.Tyr330His) | COSMIC |
15 | g.40472276T>G | CA391768871 | CHST14 | c.1063T>G (p.Tyr355Asp) c.988T>G (p.Tyr330Asp) | |
15 | g.40472277A>C | CA391768877 | CHST14 | c.1064A>C (p.Tyr355Ser) c.989A>C (p.Tyr330Ser) | |
15 | g.40472277A>G | CA391768882 | CHST14 | c.1064A>G (p.Tyr355Cys) c.989A>G (p.Tyr330Cys) | |
15 | g.40472277A>T | CA391768879 | CHST14 | c.1064A>T (p.Tyr355Phe) c.989A>T (p.Tyr330Phe) | |
15 | g.40472278T>A | CA391768884 | CHST14 | c.1065T>A (p.Tyr355Ter) c.990T>A (p.Tyr330Ter) | |
15 | g.40472278T>C | CA268823036 | CHST14 | c.1065T>C (p.Tyr355=) c.990T>C (p.Tyr330=) | dbSNP gnomAD v4 |
15 | g.40472278T>G | CA391768885 | CHST14 | c.1065T>G (p.Tyr355Ter) c.990T>G (p.Tyr330Ter) | |
15 | g.40472278T= | CA2171795463 | CHST14 | c.1065T= (p.Tyr355=) c.990T= (p.Tyr330=) | |
15 | g.40472279A>C | CA391768888 | CHST14 | c.1066A>C (p.Ile356Leu) c.991A>C (p.Ile331Leu) | |
15 | g.40472279A>G | CA391768891 | CHST14 | c.1066A>G (p.Ile356Val) c.991A>G (p.Ile331Val) | |
15 | g.40472279A>T | CA391768893 | CHST14 | c.1066A>T (p.Ile356Phe) c.991A>T (p.Ile331Phe) | |
15 | g.40472280T>A | CA391768896 | CHST14 | c.1067T>A (p.Ile356Asn) c.992T>A (p.Ile331Asn) | |
15 | g.40472280T>C | CA7481694 | CHST14 | c.1067T>C (p.Ile356Thr) c.992T>C (p.Ile331Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472280T>G | CA391768900 | CHST14 | c.1067T>G (p.Ile356Ser) c.992T>G (p.Ile331Ser) | |
15 | g.40472280T= | CA2171795464 | CHST14 | c.1067T= (p.Ile356=) c.992T= (p.Ile331=) | |
15 | g.40472281C>A | CA489975475 | CHST14 | c.1068C>A (p.Ile356=) c.993C>A (p.Ile331=) | |
15 | g.40472281C>G | CA391768901 | CHST14 | c.1068C>G (p.Ile356Met) c.993C>G (p.Ile331Met) | |
15 | g.40472281C>T | CA489975476 | CHST14 | c.1068C>T (p.Ile356=) c.993C>T (p.Ile331=) | COSMIC |
15 | g.40472282C>A | CA391768905 | CHST14 | c.1069C>A (p.Leu357Met) c.994C>A (p.Leu332Met) | gnomAD v4 |
15 | g.40472282C>G | CA391768906 | CHST14 | c.1069C>G (p.Leu357Val) c.994C>G (p.Leu332Val) | |
15 | g.40472282C>T | CA489975477 | CHST14 | c.1069C>T (p.Leu357=) c.994C>T (p.Leu332=) | |
15 | g.40472283T>A | CA391768912 | CHST14 | c.1070T>A (p.Leu357Gln) c.995T>A (p.Leu332Gln) | ClinVar |
15 | g.40472283T>C | CA391768908 | CHST14 | c.1070T>C (p.Leu357Pro) c.995T>C (p.Leu332Pro) | |
15 | g.40472283T>G | CA7481695 | CHST14 | c.1070T>G (p.Leu357Arg) c.995T>G (p.Leu332Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40472283T= | CA2171795465 | CHST14 | c.1070T= (p.Leu357=) c.995T= (p.Leu332=) | |
15 | g.40472284G>A | CA489975481 | CHST14 | c.1071G>A (p.Leu357=) c.996G>A (p.Leu332=) | |
15 | g.40472284G>C | CA489975482 | CHST14 | c.1071G>C (p.Leu357=) c.996G>C (p.Leu332=) | |
15 | g.40472284G>T | CA489975483 | CHST14 | c.1071G>T (p.Leu357=) c.996G>T (p.Leu332=) | |
15 | g.40472285G>A | CA391768915 | CHST14 | c.1072G>A (p.Asp358Asn) c.997G>A (p.Asp333Asn) | |
15 | g.40472285G>C | CA7481696 | CHST14 | c.1072G>C (p.Asp358His) c.997G>C (p.Asp333His) | dbSNP ExAC gnomAD v2 |
15 | g.40472285G= | CA2171795466 | CHST14 | c.1072G= (p.Asp358=) c.997G= (p.Asp333=) | |
15 | g.40472285G>T | CA391768918 | CHST14 | c.1072G>T (p.Asp358Tyr) c.997G>T (p.Asp333Tyr) | |
15 | g.40472286A>C | CA391768920 | CHST14 | c.1073A>C (p.Asp358Ala) c.998A>C (p.Asp333Ala) | |
15 | g.40472286A>G | CA391768922 | CHST14 | c.1073A>G (p.Asp358Gly) c.998A>G (p.Asp333Gly) | |
15 | g.40472286A>T | CA391768925 | CHST14 | c.1073A>T (p.Asp358Val) c.998A>T (p.Asp333Val) | |
15 | g.40472287C>A | CA391768928 | CHST14 | c.1074C>A (p.Asp358Glu) c.999C>A (p.Asp333Glu) | gnomAD v4 |
15 | g.40472287C>G | CA391768929 | CHST14 | c.1074C>G (p.Asp358Glu) c.999C>G (p.Asp333Glu) | |
15 | g.40472287C>T | CA489975485 | CHST14 | c.1074C>T (p.Asp358=) c.999C>T (p.Asp333=) | gnomAD v4 |
15 | g.40472288T>A | CA391768931 | CHST14 | c.1075T>A (p.Phe359Ile) c.1000T>A (p.Phe334Ile) | |
15 | g.40472288T>C | CA391768932 | CHST14 | c.1075T>C (p.Phe359Leu) c.1000T>C (p.Phe334Leu) | |
15 | g.40472288T>G | CA391768934 | CHST14 | c.1075T>G (p.Phe359Val) c.1000T>G (p.Phe334Val) | |
15 | g.40472289T>A | CA391768941 | CHST14 | c.1076T>A (p.Phe359Tyr) c.1001T>A (p.Phe334Tyr) | |
15 | g.40472289T>C | CA391768939 | CHST14 | c.1076T>C (p.Phe359Ser) c.1001T>C (p.Phe334Ser) | COSMIC |
15 | g.40472289T>G | CA391768937 | CHST14 | c.1076T>G (p.Phe359Cys) c.1001T>G (p.Phe334Cys) | |
15 | g.40472290C>A | CA391768945 | CHST14 | c.1077C>A (p.Phe359Leu) c.1002C>A (p.Phe334Leu) | |
15 | g.40472290C>G | CA391768943 | CHST14 | c.1077C>G (p.Phe359Leu) c.1002C>G (p.Phe334Leu) | |
15 | g.40472290C>T | CA489975487 | CHST14 | c.1077C>T (p.Phe359=) c.1002C>T (p.Phe334=) | |
15 | g.40472291T>A | CA391768948 | CHST14 | c.1078T>A (p.Ser360Thr) c.1003T>A (p.Ser335Thr) | |
15 | g.40472291T>C | CA391768950 | CHST14 | c.1078T>C (p.Ser360Pro) c.1003T>C (p.Ser335Pro) | |
15 | g.40472291T>G | CA391768952 | CHST14 | c.1078T>G (p.Ser360Ala) c.1003T>G (p.Ser335Ala) | |
15 | g.40472292C>A | CA391768953 | CHST14 | c.1079C>A (p.Ser360Tyr) c.1004C>A (p.Ser335Tyr) | |
15 | g.40472292C= | CA2171795467 | CHST14 | c.1079C= (p.Ser360=) c.1004C= (p.Ser335=) | |
15 | g.40472292C>G | CA391768955 | CHST14 | c.1079C>G (p.Ser360Cys) c.1004C>G (p.Ser335Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472292C>T | CA391768956 | CHST14 | c.1079C>T (p.Ser360Phe) c.1004C>T (p.Ser335Phe) | dbSNP |
15 | g.40472293C>A | CA489975490 | CHST14 | c.1080C>A (p.Ser360=) c.1005C>A (p.Ser335=) | |
15 | g.40472293C= | CA2171795468 | CHST14 | c.1080C= (p.Ser360=) c.1005C= (p.Ser335=) | |
15 | g.40472293C>G | CA489975491 | CHST14 | c.1080C>G (p.Ser360=) c.1005C>G (p.Ser335=) | |
15 | g.40472293C>T | CA489975489 | CHST14 | c.1080C>T (p.Ser360=) c.1005C>T (p.Ser335=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472294C>A | CA391768958 | CHST14 | c.1081C>A (p.Leu361Ile) c.1006C>A (p.Leu336Ile) | |
15 | g.40472294C= | CA2171795469 | CHST14 | c.1081C= (p.Leu361=) c.1006C= (p.Leu336=) | |
15 | g.40472294C>G | CA391768960 | CHST14 | c.1081C>G (p.Leu361Val) c.1006C>G (p.Leu336Val) | ClinVar dbSNP gnomAD v4 |
15 | g.40472294C>T | CA391768959 | CHST14 | c.1081C>T (p.Leu361Phe) c.1006C>T (p.Leu336Phe) | |
15 | g.40472295T>A | CA391768963 | CHST14 | c.1082T>A (p.Leu361His) c.1007T>A (p.Leu336His) | |
15 | g.40472295T>C | CA391768964 | CHST14 | c.1082T>C (p.Leu361Pro) c.1007T>C (p.Leu336Pro) | |
15 | g.40472295T>G | CA391768965 | CHST14 | c.1082T>G (p.Leu361Arg) c.1007T>G (p.Leu336Arg) | gnomAD v4 |
15 | g.40472296C>A | CA489975492 | CHST14 | c.1083C>A (p.Leu361=) c.1008C>A (p.Leu336=) | gnomAD v4 |
15 | g.40472296C= | CA2171795470 | CHST14 | c.1083C= (p.Leu361=) c.1008C= (p.Leu336=) | |
15 | g.40472296C>G | CA489975493 | CHST14 | c.1083C>G (p.Leu361=) c.1008C>G (p.Leu336=) | gnomAD v4 |
15 | g.40472296C>T | CA7481697 | CHST14 | c.1083C>T (p.Leu361=) c.1008C>T (p.Leu336=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40472297T>A | CA391768966 | CHST14 | c.1084T>A (p.Phe362Ile) c.1009T>A (p.Phe337Ile) | |
15 | g.40472297T>C | CA391768969 | CHST14 | c.1084T>C (p.Phe362Leu) c.1009T>C (p.Phe337Leu) | |
15 | g.40472297T>G | CA391768968 | CHST14 | c.1084T>G (p.Phe362Val) c.1009T>G (p.Phe337Val) | |
15 | g.40472299del | CA2627824993 | CHST14 | c.1086del (p.Phe362LeufsTer?) c.1011del (p.Phe337LeufsTer?) | gnomAD v4 |
15 | g.40472298T>A | CA391768971 | CHST14 | c.1085T>A (p.Phe362Tyr) c.1010T>A (p.Phe337Tyr) | |
15 | g.40472298T>C | CA391768972 | CHST14 | c.1085T>C (p.Phe362Ser) c.1010T>C (p.Phe337Ser) | |
15 | g.40472298T>G | CA391768974 | CHST14 | c.1085T>G (p.Phe362Cys) c.1010T>G (p.Phe337Cys) | |
15 | g.40472299T>A | CA391768976 | CHST14 | c.1086T>A (p.Phe362Leu) c.1011T>A (p.Phe337Leu) | |
15 | g.40472299T>C | CA489975495 | CHST14 | c.1086T>C (p.Phe362=) c.1011T>C (p.Phe337=) | ClinVar dbSNP gnomAD v4 |
15 | g.40472299T>G | CA391768977 | CHST14 | c.1086T>G (p.Phe362Leu) c.1011T>G (p.Phe337Leu) | |
15 | g.40472300G>A | CA391768979 | CHST14 | c.1087G>A (p.Ala363Thr) c.1012G>A (p.Ala338Thr) | dbSNP gnomAD v2 |
15 | g.40472300G>C | CA391768981 | CHST14 | c.1087G>C (p.Ala363Pro) c.1012G>C (p.Ala338Pro) | |
15 | g.40472300G= | CA2171795471 | CHST14 | c.1087G= (p.Ala363=) c.1012G= (p.Ala338=) | |
15 | g.40472300G>T | CA391768982 | CHST14 | c.1087G>T (p.Ala363Ser) c.1012G>T (p.Ala338Ser) | |
15 | g.40472301C>A | CA391768984 | CHST14 | c.1088C>A (p.Ala363Asp) c.1013C>A (p.Ala338Asp) | gnomAD v4 |
15 | g.40472301C>G | CA391768985 | CHST14 | c.1088C>G (p.Ala363Gly) c.1013C>G (p.Ala338Gly) | |
15 | g.40472301C>T | CA391768986 | CHST14 | c.1088C>T (p.Ala363Val) c.1013C>T (p.Ala338Val) | gnomAD v4 |
15 | g.40472302C>A | CA489975496 | CHST14 | c.1089C>A (p.Ala363=) c.1014C>A (p.Ala338=) | gnomAD v4 |
15 | g.40472302C>G | CA489975497 | CHST14 | c.1089C>G (p.Ala363=) c.1014C>G (p.Ala338=) | |
15 | g.40472302C>T | CA489975498 | CHST14 | c.1089C>T (p.Ala363=) c.1014C>T (p.Ala338=) | |
15 | g.40472303T>A | CA391768989 | CHST14 | c.1090T>A (p.Tyr364Asn) c.1015T>A (p.Tyr339Asn) | |
15 | g.40472303T>C | CA391768991 | CHST14 | c.1090T>C (p.Tyr364His) c.1015T>C (p.Tyr339His) | |
15 | g.40472303T>G | CA391768987 | CHST14 | c.1090T>G (p.Tyr364Asp) c.1015T>G (p.Tyr339Asp) | |
15 | g.40472304A>C | CA391768993 | CHST14 | c.1091A>C (p.Tyr364Ser) c.1016A>C (p.Tyr339Ser) | |
15 | g.40472304A>G | CA391768997 | CHST14 | c.1091A>G (p.Tyr364Cys) c.1016A>G (p.Tyr339Cys) | |
15 | g.40472304A>T | CA391768995 | CHST14 | c.1091A>T (p.Tyr364Phe) c.1016A>T (p.Tyr339Phe) | |
15 | g.40472305C>A | CA391769000 | CHST14 | c.1092C>A (p.Tyr364Ter) c.1017C>A (p.Tyr339Ter) | gnomAD v4 |
15 | g.40472305C>G | CA391769002 | CHST14 | c.1092C>G (p.Tyr364Ter) c.1017C>G (p.Tyr339Ter) | |
15 | g.40472305C>T | CA489975500 | CHST14 | c.1092C>T (p.Tyr364=) c.1017C>T (p.Tyr339=) | |
15 | g.40472307del | CA2627824994 | CHST14 | c.1094del (p.Pro365HisfsTer?) c.1019del (p.Pro340HisfsTer?) | gnomAD v4 |
15 | g.40472306C>A | CA391769004 | CHST14 | c.1093C>A (p.Pro365Thr) c.1018C>A (p.Pro340Thr) | gnomAD v4 |
15 | g.40472306C= | CA2171795472 | CHST14 | c.1093C= (p.Pro365=) c.1018C= (p.Pro340=) | |
15 | g.40472306C>G | CA391769006 | CHST14 | c.1093C>G (p.Pro365Ala) c.1018C>G (p.Pro340Ala) | |
15 | g.40472306C>T | CA391769009 | CHST14 | c.1093C>T (p.Pro365Ser) c.1018C>T (p.Pro340Ser) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472307C>A | CA391769011 | CHST14 | c.1094C>A (p.Pro365Gln) c.1019C>A (p.Pro340Gln) | dbSNP gnomAD v4 |
15 | g.40472307C= | CA2171795473 | CHST14 | c.1094C= (p.Pro365=) c.1019C= (p.Pro340=) | |
15 | g.40472307C>G | CA391769014 | CHST14 | c.1094C>G (p.Pro365Arg) c.1019C>G (p.Pro340Arg) | |
15 | g.40472307C>T | CA391769017 | CHST14 | c.1094C>T (p.Pro365Leu) c.1019C>T (p.Pro340Leu) | dbSNP gnomAD v2 |
15 | g.40472308A>C | CA489975501 | CHST14 | c.1095A>C (p.Pro365=) c.1020A>C (p.Pro340=) | |
15 | g.40472308A>G | CA489975503 | CHST14 | c.1095A>G (p.Pro365=) c.1020A>G (p.Pro340=) | |
15 | g.40472308A>T | CA489975502 | CHST14 | c.1095A>T (p.Pro365=) c.1020A>T (p.Pro340=) | |
15 | g.40472309C>A | CA391769019 | CHST14 | c.1096C>A (p.Leu366Met) c.1021C>A (p.Leu341Met) | |
15 | g.40472309C>G | CA391769021 | CHST14 | c.1096C>G (p.Leu366Val) c.1021C>G (p.Leu341Val) | |
15 | g.40472309C>T | CA489975504 | CHST14 | c.1096C>T (p.Leu366=) c.1021C>T (p.Leu341=) | gnomAD v4 |
15 | g.40472310T>A | CA391769028 | CHST14 | c.1097T>A (p.Leu366Gln) c.1022T>A (p.Leu341Gln) | |
15 | g.40472310T>C | CA268823048 | CHST14 | c.1097T>C (p.Leu366Pro) c.1022T>C (p.Leu341Pro) | dbSNP |
15 | g.40472310T>G | CA391769024 | CHST14 | c.1097T>G (p.Leu366Arg) c.1022T>G (p.Leu341Arg) | |
15 | g.40472310T= | CA2171795474 | CHST14 | c.1097T= (p.Leu366=) c.1022T= (p.Leu341=) | |
15 | g.40472311G>A | CA489975506 | CHST14 | c.1098G>A (p.Leu366=) c.1023G>A (p.Leu341=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472311G>C | CA489975507 | CHST14 | c.1098G>C (p.Leu366=) c.1023G>C (p.Leu341=) | |
15 | g.40472311G= | CA2171795475 | CHST14 | c.1098G= (p.Leu366=) c.1023G= (p.Leu341=) | |
15 | g.40472311G>T | CA489975508 | CHST14 | c.1098G>T (p.Leu366=) c.1023G>T (p.Leu341=) | gnomAD v4 |
15 | g.40472312C>A | CA391769030 | CHST14 | c.1099C>A (p.Pro367Thr) c.1024C>A (p.Pro342Thr) | gnomAD v4 |
15 | g.40472312C>G | CA391769031 | CHST14 | c.1099C>G (p.Pro367Ala) c.1024C>G (p.Pro342Ala) | |
15 | g.40472312C>T | CA391769032 | CHST14 | c.1099C>T (p.Pro367Ser) c.1024C>T (p.Pro342Ser) | |
15 | g.40472313C>A | CA391769033 | CHST14 | c.1100C>A (p.Pro367His) c.1025C>A (p.Pro342His) | |
15 | g.40472313C>G | CA391769034 | CHST14 | c.1100C>G (p.Pro367Arg) c.1025C>G (p.Pro342Arg) | |
15 | g.40472313C>T | CA391769036 | CHST14 | c.1100C>T (p.Pro367Leu) c.1025C>T (p.Pro342Leu) | |
15 | g.40472314T>A | CA489975509 | CHST14 | c.1101T>A (p.Pro367=) c.1026T>A (p.Pro342=) | |
15 | g.40472314T>C | CA489975510 | CHST14 | c.1101T>C (p.Pro367=) c.1026T>C (p.Pro342=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472314T>G | CA489975511 | CHST14 | c.1101T>G (p.Pro367=) c.1026T>G (p.Pro342=) | |
15 | g.40472314T= | CA2171795476 | CHST14 | c.1101T= (p.Pro367=) c.1026T= (p.Pro342=) | |
15 | g.40472315A= | CA2171795477 | CHST14 | c.1102A= (p.Asn368=) c.1027A= (p.Asn343=) | |
15 | g.40472315A>C | CA391769037 | CHST14 | c.1102A>C (p.Asn368His) c.1027A>C (p.Asn343His) | |
15 | g.40472315A>G | CA7481698 | CHST14 | c.1102A>G (p.Asn368Asp) c.1027A>G (p.Asn343Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472315A>T | CA391769041 | CHST14 | c.1102A>T (p.Asn368Tyr) c.1027A>T (p.Asn343Tyr) | |
15 | g.40472316A>C | CA391769043 | CHST14 | c.1103A>C (p.Asn368Thr) c.1028A>C (p.Asn343Thr) | |
15 | g.40472316A>G | CA391769045 | CHST14 | c.1103A>G (p.Asn368Ser) c.1028A>G (p.Asn343Ser) | |
15 | g.40472316A>T | CA391769047 | CHST14 | c.1103A>T (p.Asn368Ile) c.1028A>T (p.Asn343Ile) | |
15 | g.40472317T>A | CA391769053 | CHST14 | c.1104T>A (p.Asn368Lys) c.1029T>A (p.Asn343Lys) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472317T>C | CA489975512 | CHST14 | c.1104T>C (p.Asn368=) c.1029T>C (p.Asn343=) | ClinVar dbSNP |
15 | g.40472317T>G | CA391769050 | CHST14 | c.1104T>G (p.Asn368Lys) c.1029T>G (p.Asn343Lys) | dbSNP |
15 | g.40472317T= | CA2171795478 | CHST14 | c.1104T= (p.Asn368=) c.1029T= (p.Asn343=) | |
15 | g.40472318G>A | CA391769056 | CHST14 | c.1105G>A (p.Val369Ile) c.1030G>A (p.Val344Ile) | gnomAD v4 |
15 | g.40472318G>C | CA391769059 | CHST14 | c.1105G>C (p.Val369Leu) c.1030G>C (p.Val344Leu) | |
15 | g.40472318G>T | CA391769061 | CHST14 | c.1105G>T (p.Val369Phe) c.1030G>T (p.Val344Phe) | |
15 | g.40472319T>A | CA391769065 | CHST14 | c.1106T>A (p.Val369Asp) c.1031T>A (p.Val344Asp) | |
15 | g.40472319T>C | CA391769066 | CHST14 | c.1106T>C (p.Val369Ala) c.1031T>C (p.Val344Ala) | |
15 | g.40472319T>G | CA391769067 | CHST14 | c.1106T>G (p.Val369Gly) c.1031T>G (p.Val344Gly) | |
15 | g.40472320C>A | CA489975513 | CHST14 | c.1107C>A (p.Val369=) c.1032C>A (p.Val344=) | gnomAD v4 |
15 | g.40472320C>G | CA489975514 | CHST14 | c.1107C>G (p.Val369=) c.1032C>G (p.Val344=) | |
15 | g.40472320C>T | CA489975515 | CHST14 | c.1107C>T (p.Val369=) c.1032C>T (p.Val344=) | |
15 | g.40472321A>C | CA391769071 | CHST14 | c.1108A>C (p.Thr370Pro) c.1033A>C (p.Thr345Pro) | |
15 | g.40472321A>G | CA391769074 | CHST14 | c.1108A>G (p.Thr370Ala) c.1033A>G (p.Thr345Ala) | |
15 | g.40472321A>T | CA391769076 | CHST14 | c.1108A>T (p.Thr370Ser) c.1033A>T (p.Thr345Ser) | |
15 | g.40472321_40472322delinsAC | CA2171795479 | CHST14 | c.1108_1109delinsAC (p.Thr370=) c.1033_1034delinsAC (p.Thr345=) | |
15 | g.40472322C>A | CA391769078 | CHST14 | c.1109C>A (p.Thr370Asn) c.1034C>A (p.Thr345Asn) | gnomAD v4 |
15 | g.40472322C= | CA2171795480 | CHST14 | c.1109C= (p.Thr370=) c.1034C= (p.Thr345=) | |
15 | g.40472322C>G | CA391769080 | CHST14 | c.1109C>G (p.Thr370Ser) c.1034C>G (p.Thr345Ser) | ClinVar gnomAD v4 |
15 | g.40472322C>T | CA391769081 | CHST14 | c.1109C>T (p.Thr370Ile) c.1034C>T (p.Thr345Ile) | dbSNP gnomAD v2 |
15 | g.40472323del | CA617557508 | CHST14 | c.1110del (p.Lys371ArgfsTer?) c.1035del (p.Lys346ArgfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |