Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.132340583T>A | CA360812855 | MIR3936HG,SLC22A4 | c.1463T>A (p.Leu488Gln) n.561-5657A>T c.935T>A (p.Leu312Gln) c.1187T>A (p.Leu396Gln) | |
5 | g.132340583T>C | CA360812859 | MIR3936HG,SLC22A4 | c.1463T>C (p.Leu488Pro) n.561-5657A>G c.935T>C (p.Leu312Pro) c.1187T>C (p.Leu396Pro) | dbSNP gnomAD v4 |
5 | g.132340583T>G | CA360812862 | MIR3936HG,SLC22A4 | c.1463T>G (p.Leu488Arg) n.561-5657A>C c.935T>G (p.Leu312Arg) c.1187T>G (p.Leu396Arg) | |
5 | g.132340583T= | CA1583125008 | MIR3936HG,SLC22A4 | c.1463T= (p.Leu488=) n.561-5657A= c.935T= (p.Leu312=) c.1187T= (p.Leu396=) | |
5 | g.132340584G>A | CA446339954 | MIR3936HG,SLC22A4 | c.1464G>A (p.Leu488=) n.561-5658C>T c.936G>A (p.Leu312=) c.1188G>A (p.Leu396=) | dbSNP gnomAD v4 |
5 | g.132340584G>C | CA446339955 | MIR3936HG,SLC22A4 | c.1464G>C (p.Leu488=) n.561-5658C>G c.936G>C (p.Leu312=) c.1188G>C (p.Leu396=) | |
5 | g.132340584G= | CA1583125009 | MIR3936HG,SLC22A4 | c.1464G= (p.Leu488=) n.561-5658C= c.936G= (p.Leu312=) c.1188G= (p.Leu396=) | |
5 | g.132340584G>T | CA446339956 | MIR3936HG,SLC22A4 | c.1464G>T (p.Leu488=) n.561-5658C>A c.936G>T (p.Leu312=) c.1188G>T (p.Leu396=) | |
5 | g.132340585C>A | CA360812866 | MIR3936HG,SLC22A4 | c.1465C>A (p.Pro489Thr) n.561-5659G>T c.937C>A (p.Pro313Thr) c.1189C>A (p.Pro397Thr) | |
5 | g.132340585C>G | CA360812867 | MIR3936HG,SLC22A4 | c.1465C>G (p.Pro489Ala) n.561-5659G>C c.937C>G (p.Pro313Ala) c.1189C>G (p.Pro397Ala) | |
5 | g.132340585C>T | CA360812870 | MIR3936HG,SLC22A4 | c.1465C>T (p.Pro489Ser) n.561-5659G>A c.937C>T (p.Pro313Ser) c.1189C>T (p.Pro397Ser) | gnomAD v4 |
5 | g.132340586C>A | CA360812875 | MIR3936HG,SLC22A4 | c.1466C>A (p.Pro489His) n.561-5660G>T c.938C>A (p.Pro313His) c.1190C>A (p.Pro397His) | |
5 | g.132340586C>G | CA360812879 | MIR3936HG,SLC22A4 | c.1466C>G (p.Pro489Arg) n.561-5660G>C c.938C>G (p.Pro313Arg) c.1190C>G (p.Pro397Arg) | |
5 | g.132340586C>T | CA360812878 | MIR3936HG,SLC22A4 | c.1466C>T (p.Pro489Leu) n.561-5660G>A c.938C>T (p.Pro313Leu) c.1190C>T (p.Pro397Leu) | |
5 | g.132340587C>A | CA446339970 | MIR3936HG,SLC22A4 | c.1467C>A (p.Pro489=) n.561-5661G>T c.939C>A (p.Pro313=) c.1191C>A (p.Pro397=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.132340587C= | CA1583125010 | MIR3936HG,SLC22A4 | c.1467C= (p.Pro489=) n.561-5661G= c.939C= (p.Pro313=) c.1191C= (p.Pro397=) | |
5 | g.132340587C>G | CA446339972 | MIR3936HG,SLC22A4 | c.1467C>G (p.Pro489=) n.561-5661G>C c.939C>G (p.Pro313=) c.1191C>G (p.Pro397=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.132340587C>T | CA446339971 | MIR3936HG,SLC22A4 | c.1467C>T (p.Pro489=) n.561-5661G>A c.939C>T (p.Pro313=) c.1191C>T (p.Pro397=) | |
5 | g.132340588T>A | CA360812882 | MIR3936HG,SLC22A4 | c.1468T>A (p.Tyr490Asn) n.561-5662A>T c.940T>A (p.Tyr314Asn) c.1192T>A (p.Tyr398Asn) | |
5 | g.132340588T>C | CA360812883 | MIR3936HG,SLC22A4 | c.1468T>C (p.Tyr490His) n.561-5662A>G c.940T>C (p.Tyr314His) c.1192T>C (p.Tyr398His) | |
5 | g.132340588T>G | CA360812884 | MIR3936HG,SLC22A4 | c.1468T>G (p.Tyr490Asp) n.561-5662A>C c.940T>G (p.Tyr314Asp) c.1192T>G (p.Tyr398Asp) | |
5 | g.132340589A>C | CA360812888 | MIR3936HG,SLC22A4 | c.1469A>C (p.Tyr490Ser) n.561-5663T>G c.941A>C (p.Tyr314Ser) c.1193A>C (p.Tyr398Ser) | |
5 | g.132340589A>G | CA360812889 | MIR3936HG,SLC22A4 | c.1469A>G (p.Tyr490Cys) n.561-5663T>C c.941A>G (p.Tyr314Cys) c.1193A>G (p.Tyr398Cys) | gnomAD v4 |
5 | g.132340589A>T | CA360812903 | MIR3936HG,SLC22A4 | c.1469A>T (p.Tyr490Phe) n.561-5663T>A c.941A>T (p.Tyr314Phe) c.1193A>T (p.Tyr398Phe) | |
5 | g.132340590C>A | CA360812904 | MIR3936HG,SLC22A4 | c.1470C>A (p.Tyr490Ter) n.561-5664G>T c.942C>A (p.Tyr314Ter) c.1194C>A (p.Tyr398Ter) | |
5 | g.132340590C>G | CA360812906 | MIR3936HG,SLC22A4 | c.1470C>G (p.Tyr490Ter) n.561-5664G>C c.942C>G (p.Tyr314Ter) c.1194C>G (p.Tyr398Ter) | |
5 | g.132340590C>T | CA446339993 | MIR3936HG,SLC22A4 | c.1470C>T (p.Tyr490=) n.561-5664G>A c.942C>T (p.Tyr314=) c.1194C>T (p.Tyr398=) | gnomAD v4 |
5 | g.132340591A= | CA1583125011 | MIR3936HG,SLC22A4 | c.1471A= (p.Ile491=) n.561-5665T= c.943A= (p.Ile315=) c.1195A= (p.Ile399=) | |
5 | g.132340591A>C | CA360812908 | MIR3936HG,SLC22A4 | c.1471A>C (p.Ile491Leu) n.561-5665T>G c.943A>C (p.Ile315Leu) c.1195A>C (p.Ile399Leu) | |
5 | g.132340591A>G | CA3403700 | MIR3936HG,SLC22A4 | c.1471A>G (p.Ile491Val) n.561-5665T>C c.943A>G (p.Ile315Val) c.1195A>G (p.Ile399Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132340591A>T | CA360812911 | MIR3936HG,SLC22A4 | c.1471A>T (p.Ile491Phe) n.561-5665T>A c.943A>T (p.Ile315Phe) c.1195A>T (p.Ile399Phe) | |
5 | g.132340592T>A | CA360812913 | MIR3936HG,SLC22A4 | c.1472T>A (p.Ile491Asn) n.561-5666A>T c.944T>A (p.Ile315Asn) c.1196T>A (p.Ile399Asn) | |
5 | g.132340592T>C | CA360812915 | MIR3936HG,SLC22A4 | c.1472T>C (p.Ile491Thr) n.561-5666A>G c.944T>C (p.Ile315Thr) c.1196T>C (p.Ile399Thr) | |
5 | g.132340592T>G | CA360812912 | MIR3936HG,SLC22A4 | c.1472T>G (p.Ile491Ser) n.561-5666A>C c.944T>G (p.Ile315Ser) c.1196T>G (p.Ile399Ser) | |
5 | g.132340593C>A | CA446340008 | MIR3936HG,SLC22A4 | c.1473C>A (p.Ile491=) n.561-5667G>T c.945C>A (p.Ile315=) c.1197C>A (p.Ile399=) | |
5 | g.132340593C= | CA1583125012 | MIR3936HG,SLC22A4 | c.1473C= (p.Ile491=) n.561-5667G= c.945C= (p.Ile315=) c.1197C= (p.Ile399=) | |
5 | g.132340593C>G | CA360812917 | MIR3936HG,SLC22A4 | c.1473C>G (p.Ile491Met) n.561-5667G>C c.945C>G (p.Ile315Met) c.1197C>G (p.Ile399Met) | |
5 | g.132340593C>T | CA3403701 | MIR3936HG,SLC22A4 | c.1473C>T (p.Ile491=) n.561-5667G>A c.945C>T (p.Ile315=) c.1197C>T (p.Ile399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132340594G>A | CA3403702 | MIR3936HG,SLC22A4 | c.1474G>A (p.Val492Ile) n.561-5668C>T c.946G>A (p.Val316Ile) c.1198G>A (p.Val400Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132340594G>C | CA360812924 | MIR3936HG,SLC22A4 | c.1474G>C (p.Val492Leu) n.561-5668C>G c.946G>C (p.Val316Leu) c.1198G>C (p.Val400Leu) | |
5 | g.132340594G= | CA1583125013 | MIR3936HG,SLC22A4 | c.1474G= (p.Val492=) n.561-5668C= c.946G= (p.Val316=) c.1198G= (p.Val400=) | |
5 | g.132340594G>T | CA360812928 | MIR3936HG,SLC22A4 | c.1474G>T (p.Val492Phe) n.561-5668C>A c.946G>T (p.Val316Phe) c.1198G>T (p.Val400Phe) | |
5 | g.132340595T>A | CA3403703 | MIR3936HG,SLC22A4 | c.1475T>A (p.Val492Asp) n.561-5669A>T c.947T>A (p.Val316Asp) c.1199T>A (p.Val400Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.132340595T>C | CA360812931 | MIR3936HG,SLC22A4 | c.1475T>C (p.Val492Ala) n.561-5669A>G c.947T>C (p.Val316Ala) c.1199T>C (p.Val400Ala) | |
5 | g.132340595T>G | CA360812933 | MIR3936HG,SLC22A4 | c.1475T>G (p.Val492Gly) n.561-5669A>C c.947T>G (p.Val316Gly) c.1199T>G (p.Val400Gly) | |
5 | g.132340595T= | CA1583125014 | MIR3936HG,SLC22A4 | c.1475T= (p.Val492=) n.561-5669A= c.947T= (p.Val316=) c.1199T= (p.Val400=) | |
5 | g.132340596C>A | CA446340026 | MIR3936HG,SLC22A4 | c.1476C>A (p.Val492=) n.561-5670G>T c.948C>A (p.Val316=) c.1200C>A (p.Val400=) | dbSNP gnomAD v4 |
5 | g.132340596C= | CA1583125015 | MIR3936HG,SLC22A4 | c.1476C= (p.Val492=) n.561-5670G= c.948C= (p.Val316=) c.1200C= (p.Val400=) | |
5 | g.132340596C>G | CA446340028 | MIR3936HG,SLC22A4 | c.1476C>G (p.Val492=) n.561-5670G>C c.948C>G (p.Val316=) c.1200C>G (p.Val400=) | |
5 | g.132340596C>T | CA3403704 | MIR3936HG,SLC22A4 | c.1476C>T (p.Val492=) n.561-5670G>A c.948C>T (p.Val316=) c.1200C>T (p.Val400=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132340597A= | CA1583125016 | MIR3936HG,SLC22A4 | c.1477A= (p.Met493=) n.561-5671T= c.949A= (p.Met317=) c.1201A= (p.Met401=) | |
5 | g.132340597A>C | CA360812942 | MIR3936HG,SLC22A4 | c.1477A>C (p.Met493Leu) n.561-5671T>G c.949A>C (p.Met317Leu) c.1201A>C (p.Met401Leu) | |
5 | g.132340597A>G | CA360812945 | MIR3936HG,SLC22A4 | c.1477A>G (p.Met493Val) n.561-5671T>C c.949A>G (p.Met317Val) c.1201A>G (p.Met401Val) | |
5 | g.132340597A>T | CA360812949 | MIR3936HG,SLC22A4 | c.1477A>T (p.Met493Leu) n.561-5671T>A c.949A>T (p.Met317Leu) c.1201A>T (p.Met401Leu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.132340598T>A | CA360812951 | MIR3936HG,SLC22A4 | c.1478T>A (p.Met493Lys) n.561-5672A>T c.950T>A (p.Met317Lys) c.1202T>A (p.Met401Lys) | |
5 | g.132340598T>C | CA3403705 | MIR3936HG,SLC22A4 | c.1478T>C (p.Met493Thr) n.561-5672A>G c.950T>C (p.Met317Thr) c.1202T>C (p.Met401Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132340598T>G | CA360812950 | MIR3936HG,SLC22A4 | c.1478T>G (p.Met493Arg) n.561-5672A>C c.950T>G (p.Met317Arg) c.1202T>G (p.Met401Arg) | |
5 | g.132340598T= | CA1583125017 | MIR3936HG,SLC22A4 | c.1478T= (p.Met493=) n.561-5672A= c.950T= (p.Met317=) c.1202T= (p.Met401=) | |
5 | g.132340599G>A | CA360812954 | MIR3936HG,SLC22A4 | c.1479G>A (p.Met493Ile) n.561-5673C>T c.951G>A (p.Met317Ile) c.1203G>A (p.Met401Ile) | |
5 | g.132340599G>C | CA360812957 | MIR3936HG,SLC22A4 | c.1479G>C (p.Met493Ile) n.561-5673C>G c.951G>C (p.Met317Ile) c.1203G>C (p.Met401Ile) | gnomAD v4 |
5 | g.132340599G>T | CA360812958 | MIR3936HG,SLC22A4 | c.1479G>T (p.Met493Ile) n.561-5673C>A c.951G>T (p.Met317Ile) c.1203G>T (p.Met401Ile) | |
5 | g.132340600G>A | CA360812964 | MIR3936HG,SLC22A4 | c.1480G>A (p.Gly494Ser) n.561-5674C>T c.952G>A (p.Gly318Ser) c.1204G>A (p.Gly402Ser) | dbSNP |
5 | g.132340600G>C | CA360812965 | MIR3936HG,SLC22A4 | c.1480G>C (p.Gly494Arg) n.561-5674C>G c.952G>C (p.Gly318Arg) c.1204G>C (p.Gly402Arg) | |
5 | g.132340600G= | CA1583125018 | MIR3936HG,SLC22A4 | c.1480G= (p.Gly494=) n.561-5674C= c.952G= (p.Gly318=) c.1204G= (p.Gly402=) | |
5 | g.132340600G>T | CA360812968 | MIR3936HG,SLC22A4 | c.1480G>T (p.Gly494Cys) n.561-5674C>A c.952G>T (p.Gly318Cys) c.1204G>T (p.Gly402Cys) | |
5 | g.132340601G>A | CA360812981 | MIR3936HG,SLC22A4 | c.1481G>A (p.Gly494Asp) n.561-5675C>T c.953G>A (p.Gly318Asp) c.1205G>A (p.Gly402Asp) | |
5 | g.132340601G>C | CA360812972 | MIR3936HG,SLC22A4 | c.1481G>C (p.Gly494Ala) n.561-5675C>G c.953G>C (p.Gly318Ala) c.1205G>C (p.Gly402Ala) | dbSNP |
5 | g.132340601G= | CA1583125019 | MIR3936HG,SLC22A4 | c.1481G= (p.Gly494=) n.561-5675C= c.953G= (p.Gly318=) c.1205G= (p.Gly402=) | |
5 | g.132340601G>T | CA360812978 | MIR3936HG,SLC22A4 | c.1481G>T (p.Gly494Val) n.561-5675C>A c.953G>T (p.Gly318Val) c.1205G>T (p.Gly402Val) | gnomAD v4 |
5 | g.132340602T>A | CA446340075 | MIR3936HG,SLC22A4 | c.1482T>A (p.Gly494=) n.561-5676A>T c.954T>A (p.Gly318=) c.1206T>A (p.Gly402=) | |
5 | g.132340602T>C | CA446340078 | MIR3936HG,SLC22A4 | c.1482T>C (p.Gly494=) n.561-5676A>G c.954T>C (p.Gly318=) c.1206T>C (p.Gly402=) | gnomAD v4 |
5 | g.132340602T>G | CA446340082 | MIR3936HG,SLC22A4 | c.1482T>G (p.Gly494=) n.561-5676A>C c.954T>G (p.Gly318=) c.1206T>G (p.Gly402=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132340602T= | CA1583125020 | MIR3936HG,SLC22A4 | c.1482T= (p.Gly494=) n.561-5676A= c.954T= (p.Gly318=) c.1206T= (p.Gly402=) | |
5 | g.132340603A>C | CA360812987 | MIR3936HG,SLC22A4 | c.1483A>C (p.Ser495Arg) n.561-5677T>G c.955A>C (p.Ser319Arg) c.1207A>C (p.Ser403Arg) | |
5 | g.132340603A>G | CA360812988 | MIR3936HG,SLC22A4 | c.1483A>G (p.Ser495Gly) n.561-5677T>C c.955A>G (p.Ser319Gly) c.1207A>G (p.Ser403Gly) | |
5 | g.132340603A>T | CA360812991 | MIR3936HG,SLC22A4 | c.1483A>T (p.Ser495Cys) n.561-5677T>A c.955A>T (p.Ser319Cys) c.1207A>T (p.Ser403Cys) | |
5 | g.132340604G>A | CA360812993 | MIR3936HG,SLC22A4 | c.1484G>A (p.Ser495Asn) n.561-5678C>T c.956G>A (p.Ser319Asn) c.1208G>A (p.Ser403Asn) | |
5 | g.132340604G>C | CA360812994 | MIR3936HG,SLC22A4 | c.1484G>C (p.Ser495Thr) n.561-5678C>G c.956G>C (p.Ser319Thr) c.1208G>C (p.Ser403Thr) | |
5 | g.132340604G>T | CA360812995 | MIR3936HG,SLC22A4 | c.1484G>T (p.Ser495Ile) n.561-5678C>A c.956G>T (p.Ser319Ile) c.1208G>T (p.Ser403Ile) | |
5 | g.132340605T>A | CA360812997 | MIR3936HG,SLC22A4 | c.1485T>A (p.Ser495Arg) n.561-5679A>T c.957T>A (p.Ser319Arg) c.1209T>A (p.Ser403Arg) | |
5 | g.132340605T>C | CA446340097 | MIR3936HG,SLC22A4 | c.1485T>C (p.Ser495=) n.561-5679A>G c.957T>C (p.Ser319=) c.1209T>C (p.Ser403=) | gnomAD v4 |
5 | g.132340605T>G | CA360812998 | MIR3936HG,SLC22A4 | c.1485T>G (p.Ser495Arg) n.561-5679A>C c.957T>G (p.Ser319Arg) c.1209T>G (p.Ser403Arg) | |
5 | g.132340606C>A | CA360813002 | MIR3936HG,SLC22A4 | c.1486C>A (p.Leu496Met) n.561-5680G>T c.958C>A (p.Leu320Met) c.1210C>A (p.Leu404Met) | |
5 | g.132340606C>G | CA360813004 | MIR3936HG,SLC22A4 | c.1486C>G (p.Leu496Val) n.561-5680G>C c.958C>G (p.Leu320Val) c.1210C>G (p.Leu404Val) | |
5 | g.132340606C>T | CA446340107 | MIR3936HG,SLC22A4 | c.1486C>T (p.Leu496=) n.561-5680G>A c.958C>T (p.Leu320=) c.1210C>T (p.Leu404=) | |
5 | g.132340607T>A | CA360813007 | MIR3936HG,SLC22A4 | c.1487T>A (p.Leu496Gln) n.561-5681A>T c.959T>A (p.Leu320Gln) c.1211T>A (p.Leu404Gln) | |
5 | g.132340607T>C | CA360813010 | MIR3936HG,SLC22A4 | c.1487T>C (p.Leu496Pro) n.561-5681A>G c.959T>C (p.Leu320Pro) c.1211T>C (p.Leu404Pro) | |
5 | g.132340607T>G | CA360813018 | MIR3936HG,SLC22A4 | c.1487T>G (p.Leu496Arg) n.561-5681A>C c.959T>G (p.Leu320Arg) c.1211T>G (p.Leu404Arg) | |
5 | g.132340608G>A | CA446340129 | MIR3936HG,SLC22A4 | c.1488G>A (p.Leu496=) n.561-5682C>T c.960G>A (p.Leu320=) c.1212G>A (p.Leu404=) | |
5 | g.132340608G>C | CA446340127 | MIR3936HG,SLC22A4 | c.1488G>C (p.Leu496=) n.561-5682C>G c.960G>C (p.Leu320=) c.1212G>C (p.Leu404=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132340608G= | CA1583125021 | MIR3936HG,SLC22A4 | c.1488G= (p.Leu496=) n.561-5682C= c.960G= (p.Leu320=) c.1212G= (p.Leu404=) | |
5 | g.132340608G>T | CA446340125 | MIR3936HG,SLC22A4 | c.1488G>T (p.Leu496=) n.561-5682C>A c.960G>T (p.Leu320=) c.1212G>T (p.Leu404=) | |
5 | g.132340609A>C | CA360813021 | MIR3936HG,SLC22A4 | c.1489A>C (p.Thr497Pro) n.561-5683T>G c.961A>C (p.Thr321Pro) c.1213A>C (p.Thr405Pro) | |
5 | g.132340609A>G | CA360813024 | MIR3936HG,SLC22A4 | c.1489A>G (p.Thr497Ala) n.561-5683T>C c.961A>G (p.Thr321Ala) c.1213A>G (p.Thr405Ala) | |
5 | g.132340609A>T | CA360813026 | MIR3936HG,SLC22A4 | c.1489A>T (p.Thr497Ser) n.561-5683T>A c.961A>T (p.Thr321Ser) c.1213A>T (p.Thr405Ser) | |
5 | g.132340610C>A | CA360813031 | MIR3936HG,SLC22A4 | c.1490C>A (p.Thr497Asn) n.561-5684G>T c.962C>A (p.Thr321Asn) c.1214C>A (p.Thr405Asn) | dbSNP gnomAD v4 |
5 | g.132340610C= | CA1583125022 | MIR3936HG,SLC22A4 | c.1490C= (p.Thr497=) n.561-5684G= c.962C= (p.Thr321=) c.1214C= (p.Thr405=) | |
5 | g.132340610C>G | CA360813033 | MIR3936HG,SLC22A4 | c.1490C>G (p.Thr497Ser) n.561-5684G>C c.962C>G (p.Thr321Ser) c.1214C>G (p.Thr405Ser) | |
5 | g.132340610C>T | CA360813037 | MIR3936HG,SLC22A4 | c.1490C>T (p.Thr497Ile) n.561-5684G>A c.962C>T (p.Thr321Ile) c.1214C>T (p.Thr405Ile) | |
5 | g.132340611del | CA2578401905 | MIR3936HG,SLC22A4 | c.1491del (p.Val498SerfsTer2) n.561-5685del c.963del (p.Val322SerfsTer2) c.1215del (p.Val406SerfsTer2) | gnomAD v4 |
5 | g.132340611T>A | CA446340167 | MIR3936HG,SLC22A4 | c.1491T>A (p.Thr497=) n.561-5685A>T c.963T>A (p.Thr321=) c.1215T>A (p.Thr405=) | |
5 | g.132340611T>C | CA446340164 | MIR3936HG,SLC22A4 | c.1491T>C (p.Thr497=) n.561-5685A>G c.963T>C (p.Thr321=) c.1215T>C (p.Thr405=) | |
5 | g.132340611T>G | CA446340154 | MIR3936HG,SLC22A4 | c.1491T>G (p.Thr497=) n.561-5685A>C c.963T>G (p.Thr321=) c.1215T>G (p.Thr405=) | |
5 | g.132340612G>A | CA3403706 | MIR3936HG,SLC22A4 | c.1492G>A (p.Val498Ile) n.561-5686C>T c.964G>A (p.Val322Ile) c.1216G>A (p.Val406Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132340612G>C | CA360813042 | MIR3936HG,SLC22A4 | c.1492G>C (p.Val498Leu) n.561-5686C>G c.964G>C (p.Val322Leu) c.1216G>C (p.Val406Leu) | |
5 | g.132340612G= | CA1583125023 | MIR3936HG,SLC22A4 | c.1492G= (p.Val498=) n.561-5686C= c.964G= (p.Val322=) c.1216G= (p.Val406=) | |
5 | g.132340612G>T | CA360813045 | MIR3936HG,SLC22A4 | c.1492G>T (p.Val498Phe) n.561-5686C>A c.964G>T (p.Val322Phe) c.1216G>T (p.Val406Phe) | |
5 | g.132340613T>A | CA360813051 | MIR3936HG,SLC22A4 | c.1493T>A (p.Val498Asp) n.561-5687A>T c.965T>A (p.Val322Asp) c.1217T>A (p.Val406Asp) | |
5 | g.132340613T>C | CA3403707 | MIR3936HG,SLC22A4 | c.1493T>C (p.Val498Ala) n.561-5687A>G c.965T>C (p.Val322Ala) c.1217T>C (p.Val406Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.132340613T>G | CA360813050 | MIR3936HG,SLC22A4 | c.1493T>G (p.Val498Gly) n.561-5687A>C c.965T>G (p.Val322Gly) c.1217T>G (p.Val406Gly) | |
5 | g.132340613T= | CA1583125024 | MIR3936HG,SLC22A4 | c.1493T= (p.Val498=) n.561-5687A= c.965T= (p.Val322=) c.1217T= (p.Val406=) | |
5 | g.132340614C>A | CA446340185 | MIR3936HG,SLC22A4 | c.1494C>A (p.Val498=) n.561-5688G>T c.966C>A (p.Val322=) c.1218C>A (p.Val406=) | |
5 | g.132340614C>G | CA446340190 | MIR3936HG,SLC22A4 | c.1494C>G (p.Val498=) n.561-5688G>C c.966C>G (p.Val322=) c.1218C>G (p.Val406=) | |
5 | g.132340614C>T | CA446340188 | MIR3936HG,SLC22A4 | c.1494C>T (p.Val498=) n.561-5688G>A c.966C>T (p.Val322=) c.1218C>T (p.Val406=) | |
5 | g.132340615C>A | CA360813054 | MIR3936HG,SLC22A4 | c.1495C>A (p.Leu499Met) n.561-5689G>T c.967C>A (p.Leu323Met) c.1219C>A (p.Leu407Met) | |
5 | g.132340615C>G | CA360813056 | MIR3936HG,SLC22A4 | c.1495C>G (p.Leu499Val) n.561-5689G>C c.967C>G (p.Leu323Val) c.1219C>G (p.Leu407Val) | |
5 | g.132340615C>T | CA446340204 | MIR3936HG,SLC22A4 | c.1495C>T (p.Leu499=) n.561-5689G>A c.967C>T (p.Leu323=) c.1219C>T (p.Leu407=) | |
5 | g.132340616T>A | CA360813058 | MIR3936HG,SLC22A4 | c.1496T>A (p.Leu499Gln) n.561-5690A>T c.968T>A (p.Leu323Gln) c.1220T>A (p.Leu407Gln) | |
5 | g.132340616T>C | CA360813060 | MIR3936HG,SLC22A4 | c.1496T>C (p.Leu499Pro) n.561-5690A>G c.968T>C (p.Leu323Pro) c.1220T>C (p.Leu407Pro) | |
5 | g.132340616T>G | CA360813063 | MIR3936HG,SLC22A4 | c.1496T>G (p.Leu499Arg) n.561-5690A>C c.968T>G (p.Leu323Arg) c.1220T>G (p.Leu407Arg) | |
5 | g.132340617G>A | CA446340214 | MIR3936HG,SLC22A4 | c.1497G>A (p.Leu499=) n.561-5691C>T c.969G>A (p.Leu323=) c.1221G>A (p.Leu407=) | |
5 | g.132340617G>C | CA446340215 | MIR3936HG,SLC22A4 | c.1497G>C (p.Leu499=) n.561-5691C>G c.969G>C (p.Leu323=) c.1221G>C (p.Leu407=) | COSMIC |
5 | g.132340617G>T | CA446340216 | MIR3936HG,SLC22A4 | c.1497G>T (p.Leu499=) n.561-5691C>A c.969G>T (p.Leu323=) c.1221G>T (p.Leu407=) | |
5 | g.132340618A>C | CA360813066 | MIR3936HG,SLC22A4 | c.1498A>C (p.Ile500Leu) n.561-5692T>G c.970A>C (p.Ile324Leu) c.1222A>C (p.Ile408Leu) | |
5 | g.132340618A>G | CA360813072 | MIR3936HG,SLC22A4 | c.1498A>G (p.Ile500Val) n.561-5692T>C c.970A>G (p.Ile324Val) c.1222A>G (p.Ile408Val) | |
5 | g.132340618A>T | CA360813075 | MIR3936HG,SLC22A4 | c.1498A>T (p.Ile500Phe) n.561-5692T>A c.970A>T (p.Ile324Phe) c.1222A>T (p.Ile408Phe) | |
5 | g.132340619T>A | CA360813080 | MIR3936HG,SLC22A4 | c.1499T>A (p.Ile500Asn) n.561-5693A>T c.971T>A (p.Ile324Asn) c.1223T>A (p.Ile408Asn) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.132340619T>C | CA360813082 | MIR3936HG,SLC22A4 | c.1499T>C (p.Ile500Thr) n.561-5693A>G c.971T>C (p.Ile324Thr) c.1223T>C (p.Ile408Thr) | gnomAD v4 |
5 | g.132340619T>G | CA360813085 | MIR3936HG,SLC22A4 | c.1499T>G (p.Ile500Ser) n.561-5693A>C c.971T>G (p.Ile324Ser) c.1223T>G (p.Ile408Ser) | |
5 | g.132340619T= | CA1583125025 | MIR3936HG,SLC22A4 | c.1499T= (p.Ile500=) n.561-5693A= c.971T= (p.Ile324=) c.1223T= (p.Ile408=) | |
5 | g.132340620T>A | CA446340230 | MIR3936HG,SLC22A4 | c.1500T>A (p.Ile500=) n.561-5694A>T c.972T>A (p.Ile324=) c.1224T>A (p.Ile408=) | |
5 | g.132340620T>C | CA3403708 | MIR3936HG,SLC22A4 | c.1500T>C (p.Ile500=) n.561-5694A>G c.972T>C (p.Ile324=) c.1224T>C (p.Ile408=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132340620T>G | CA360813090 | MIR3936HG,SLC22A4 | c.1500T>G (p.Ile500Met) n.561-5694A>C c.972T>G (p.Ile324Met) c.1224T>G (p.Ile408Met) | gnomAD v4 |
5 | g.132340620T= | CA1583125026 | MIR3936HG,SLC22A4 | c.1500T= (p.Ile500=) n.561-5694A= c.972T= (p.Ile324=) c.1224T= (p.Ile408=) | |
5 | g.132340621G>A | CA360813098 | MIR3936HG,SLC22A4 | c.1501G>A (p.Gly501Arg) n.561-5695C>T c.973G>A (p.Gly325Arg) c.1225G>A (p.Gly409Arg) | |
5 | g.132340621G>C | CA360813097 | MIR3936HG,SLC22A4 | c.1501G>C (p.Gly501Arg) n.561-5695C>G c.973G>C (p.Gly325Arg) c.1225G>C (p.Gly409Arg) | |
5 | g.132340621G>T | CA360813094 | MIR3936HG,SLC22A4 | c.1501G>T (p.Gly501Ter) n.561-5695C>A c.973G>T (p.Gly325Ter) c.1225G>T (p.Gly409Ter) | |
5 | g.132340622G>A | CA360813099 | MIR3936HG,SLC22A4 | c.1502G>A (p.Gly501Glu) n.561-5696C>T c.974G>A (p.Gly325Glu) c.1226G>A (p.Gly409Glu) | COSMIC |
5 | g.132340622G>C | CA360813100 | MIR3936HG,SLC22A4 | c.1502G>C (p.Gly501Ala) n.561-5696C>G c.974G>C (p.Gly325Ala) c.1226G>C (p.Gly409Ala) | |
5 | g.132340622G>T | CA360813103 | MIR3936HG,SLC22A4 | c.1502G>T (p.Gly501Val) n.561-5696C>A c.974G>T (p.Gly325Val) c.1226G>T (p.Gly409Val) | |
5 | g.132340623A>C | CA446340258 | MIR3936HG,SLC22A4 | c.1503A>C (p.Gly501=) n.561-5697T>G c.975A>C (p.Gly325=) c.1227A>C (p.Gly409=) | gnomAD v4 |
5 | g.132340623A>G | CA446340260 | MIR3936HG,SLC22A4 | c.1503A>G (p.Gly501=) n.561-5697T>C c.975A>G (p.Gly325=) c.1227A>G (p.Gly409=) | |
5 | g.132340623A>T | CA446340263 | MIR3936HG,SLC22A4 | c.1503A>T (p.Gly501=) n.561-5697T>A c.975A>T (p.Gly325=) c.1227A>T (p.Gly409=) | |
5 | g.132340624A>C | CA360813107 | MIR3936HG,SLC22A4 | c.1504A>C (p.Ile502Leu) n.561-5698T>G c.976A>C (p.Ile326Leu) c.1228A>C (p.Ile410Leu) | |
5 | g.132340624A>G | CA360813111 | MIR3936HG,SLC22A4 | c.1504A>G (p.Ile502Val) n.561-5698T>C c.976A>G (p.Ile326Val) c.1228A>G (p.Ile410Val) | gnomAD v4 |
5 | g.132340624A>T | CA360813113 | MIR3936HG,SLC22A4 | c.1504A>T (p.Ile502Phe) n.561-5698T>A c.976A>T (p.Ile326Phe) c.1228A>T (p.Ile410Phe) | |
5 | g.132340625T>A | CA360813130 | MIR3936HG,SLC22A4 | c.1505T>A (p.Ile502Asn) n.561-5699A>T c.977T>A (p.Ile326Asn) c.1229T>A (p.Ile410Asn) | gnomAD v4 |
5 | g.132340625T>C | CA3403709 | MIR3936HG,SLC22A4 | c.1505T>C (p.Ile502Thr) n.561-5699A>G c.977T>C (p.Ile326Thr) c.1229T>C (p.Ile410Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132340625T>G | CA360813120 | MIR3936HG,SLC22A4 | c.1505T>G (p.Ile502Ser) n.561-5699A>C c.977T>G (p.Ile326Ser) c.1229T>G (p.Ile410Ser) | |
5 | g.132340625T= | CA1583125027 | MIR3936HG,SLC22A4 | c.1505T= (p.Ile502=) n.561-5699A= c.977T= (p.Ile326=) c.1229T= (p.Ile410=) | |
5 | g.132340626C>A | CA3403710 | MIR3936HG,SLC22A4 | c.1506C>A (p.Ile502=) n.561-5700G>T c.978C>A (p.Ile326=) c.1230C>A (p.Ile410=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132340626C= | CA1583125028 | MIR3936HG,SLC22A4 | c.1506C= (p.Ile502=) n.561-5700G= c.978C= (p.Ile326=) c.1230C= (p.Ile410=) | |
5 | g.132340626C>G | CA360813138 | MIR3936HG,SLC22A4 | c.1506C>G (p.Ile502Met) n.561-5700G>C c.978C>G (p.Ile326Met) c.1230C>G (p.Ile410Met) | |
5 | g.132340626C>T | CA446340275 | MIR3936HG,SLC22A4 | c.1506C>T (p.Ile502=) n.561-5700G>A c.978C>T (p.Ile326=) c.1230C>T (p.Ile410=) | |
5 | g.132340627C>A | CA360813144 | MIR3936HG,SLC22A4 | c.1507C>A (p.Leu503Ile) n.561-5701G>T c.979C>A (p.Leu327Ile) c.1231C>A (p.Leu411Ile) | |
5 | g.132340627C= | CA1583125029 | MIR3936HG,SLC22A4 | c.1507C= (p.Leu503=) n.561-5701G= c.979C= (p.Leu327=) c.1231C= (p.Leu411=) | |
5 | g.132340627C>G | CA360813145 | MIR3936HG,SLC22A4 | c.1507C>G (p.Leu503Val) n.561-5701G>C c.979C>G (p.Leu327Val) c.1231C>G (p.Leu411Val) | |
5 | g.132340627C>T | CA117718 | MIR3936HG,SLC22A4 | c.1507C>T (p.Leu503Phe) n.561-5701G>A c.979C>T (p.Leu327Phe) c.1231C>T (p.Leu411Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132340628T>A | CA360813146 | MIR3936HG,SLC22A4 | c.1508T>A (p.Leu503His) n.561-5702A>T c.980T>A (p.Leu327His) c.1232T>A (p.Leu411His) | |
5 | g.132340628T>C | CA360813148 | MIR3936HG,SLC22A4 | c.1508T>C (p.Leu503Pro) n.561-5702A>G c.980T>C (p.Leu327Pro) c.1232T>C (p.Leu411Pro) | |
5 | g.132340628T>G | CA360813147 | MIR3936HG,SLC22A4 | c.1508T>G (p.Leu503Arg) n.561-5702A>C c.980T>G (p.Leu327Arg) c.1232T>G (p.Leu411Arg) | |
5 | g.132340629C>A | CA3403711 | MIR3936HG,SLC22A4 | c.1509C>A (p.Leu503=) n.561-5703G>T c.981C>A (p.Leu327=) c.1233C>A (p.Leu411=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.132340629C= | CA1583125030 | MIR3936HG,SLC22A4 | c.1509C= (p.Leu503=) n.561-5703G= c.981C= (p.Leu327=) c.1233C= (p.Leu411=) | |
5 | g.132340629C>G | CA446340307 | MIR3936HG,SLC22A4 | c.1509C>G (p.Leu503=) n.561-5703G>C c.981C>G (p.Leu327=) c.1233C>G (p.Leu411=) | |
5 | g.132340629C>T | CA446340315 | MIR3936HG,SLC22A4 | c.1509C>T (p.Leu503=) n.561-5703G>A c.981C>T (p.Leu327=) c.1233C>T (p.Leu411=) | gnomAD v4 |
5 | g.132340630A>C | CA360813150 | MIR3936HG,SLC22A4 | c.1510A>C (p.Thr504Pro) n.561-5704T>G c.982A>C (p.Thr328Pro) c.1234A>C (p.Thr412Pro) | |
5 | g.132340630A>G | CA360813155 | MIR3936HG,SLC22A4 | c.1510A>G (p.Thr504Ala) n.561-5704T>C c.982A>G (p.Thr328Ala) c.1234A>G (p.Thr412Ala) | |
5 | g.132340630A>T | CA360813159 | MIR3936HG,SLC22A4 | c.1510A>T (p.Thr504Ser) n.561-5704T>A c.982A>T (p.Thr328Ser) c.1234A>T (p.Thr412Ser) | |
5 | g.132340631C>A | CA360813162 | MIR3936HG,SLC22A4 | c.1511C>A (p.Thr504Asn) n.561-5705G>T c.983C>A (p.Thr328Asn) c.1235C>A (p.Thr412Asn) | |
5 | g.132340631C= | CA1583125031 | MIR3936HG,SLC22A4 | c.1511C= (p.Thr504=) n.561-5705G= c.983C= (p.Thr328=) c.1235C= (p.Thr412=) | |
5 | g.132340631C>G | CA360813166 | MIR3936HG,SLC22A4 | c.1511C>G (p.Thr504Ser) n.561-5705G>C c.983C>G (p.Thr328Ser) c.1235C>G (p.Thr412Ser) | gnomAD v4 |
5 | g.132340631C>T | CA360813172 | MIR3936HG,SLC22A4 | c.1511C>T (p.Thr504Ile) n.561-5705G>A c.983C>T (p.Thr328Ile) c.1235C>T (p.Thr412Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.132340632C>A | CA446340332 | MIR3936HG,SLC22A4 | c.1512C>A (p.Thr504=) n.561-5706G>T c.984C>A (p.Thr328=) c.1236C>A (p.Thr412=) | |
5 | g.132340632C>G | CA446340335 | MIR3936HG,SLC22A4 | c.1512C>G (p.Thr504=) n.561-5706G>C c.984C>G (p.Thr328=) c.1236C>G (p.Thr412=) | gnomAD v4 |
5 | g.132340632C>T | CA446340338 | MIR3936HG,SLC22A4 | c.1512C>T (p.Thr504=) n.561-5706G>A c.984C>T (p.Thr328=) c.1236C>T (p.Thr412=) | |
5 | g.132340633C>A | CA360813176 | MIR3936HG,SLC22A4 | c.1513C>A (p.Leu505Ile) n.561-5707G>T c.985C>A (p.Leu329Ile) c.1237C>A (p.Leu413Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.132340633C= | CA1583125033 | MIR3936HG,SLC22A4 | c.1513C= (p.Leu505=) n.561-5707G= c.985C= (p.Leu329=) c.1237C= (p.Leu413=) | |
5 | g.132340633C>G | CA360813179 | MIR3936HG,SLC22A4 | c.1513C>G (p.Leu505Val) n.561-5707G>C c.985C>G (p.Leu329Val) c.1237C>G (p.Leu413Val) | |
5 | g.132340633C>T | CA360813180 | MIR3936HG,SLC22A4 | c.1513C>T (p.Leu505Phe) n.561-5707G>A c.985C>T (p.Leu329Phe) c.1237C>T (p.Leu413Phe) | gnomAD v4 |
5 | g.132340633_132340634delinsCT | CA1583125032 | MIR3936HG,SLC22A4 | c.1513_1514delinsCT (p.Leu505=) n.561-5708_561-5707delinsAG c.985_986delinsCT (p.Leu329=) c.1237_1238delinsCT (p.Leu413=) | |
5 | g.132340634T>A | CA360813188 | MIR3936HG,SLC22A4 | c.1514T>A (p.Leu505His) n.561-5708A>T c.986T>A (p.Leu329His) c.1238T>A (p.Leu413His) | |
5 | g.132340634T>C | CA360813189 | MIR3936HG,SLC22A4 | c.1514T>C (p.Leu505Pro) n.561-5708A>G c.986T>C (p.Leu329Pro) c.1238T>C (p.Leu413Pro) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132340634T>G | CA360813187 | MIR3936HG,SLC22A4 | c.1514T>G (p.Leu505Arg) n.561-5708A>C c.986T>G (p.Leu329Arg) c.1238T>G (p.Leu413Arg) | gnomAD v4 |
5 | g.132340634T= | CA1583125034 | MIR3936HG,SLC22A4 | c.1514T= (p.Leu505=) n.561-5708A= c.986T= (p.Leu329=) c.1238T= (p.Leu413=) | |
5 | g.132340640dup | CA3403713 | MIR3936HG,SLC22A4 | c.1520dup (p.Glu509Ter) n.561-5708dup c.992dup (p.Glu333Ter) c.1244dup (p.Glu417Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.132340640del | CA3403712 | MIR3936HG,SLC22A4 | c.1520del (p.Phe507SerfsTer7) n.561-5708del c.992del (p.Phe331SerfsTer7) c.1244del (p.Phe415SerfsTer7) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.132340635T>A | CA446340363 | MIR3936HG,SLC22A4 | c.1515T>A (p.Leu505=) n.561-5709A>T c.987T>A (p.Leu329=) c.1239T>A (p.Leu413=) | |
5 | g.132340635T>C | CA446340366 | MIR3936HG,SLC22A4 | c.1515T>C (p.Leu505=) n.561-5709A>G c.987T>C (p.Leu329=) c.1239T>C (p.Leu413=) | |
5 | g.132340635T>G | CA446340367 | MIR3936HG,SLC22A4 | c.1515T>G (p.Leu505=) n.561-5709A>C c.987T>G (p.Leu329=) c.1239T>G (p.Leu413=) | |
5 | g.132340636T>A | CA360813193 | MIR3936HG,SLC22A4 | c.1516T>A (p.Phe506Ile) n.561-5710A>T c.988T>A (p.Phe330Ile) c.1240T>A (p.Phe414Ile) | |
5 | g.132340636T>C | CA360813196 | MIR3936HG,SLC22A4 | c.1516T>C (p.Phe506Leu) n.561-5710A>G c.988T>C (p.Phe330Leu) c.1240T>C (p.Phe414Leu) | |
5 | g.132340636T>G | CA360813198 | MIR3936HG,SLC22A4 | c.1516T>G (p.Phe506Val) n.561-5710A>C c.988T>G (p.Phe330Val) c.1240T>G (p.Phe414Val) | |
5 | g.132340637T>A | CA360813200 | MIR3936HG,SLC22A4 | c.1517T>A (p.Phe506Tyr) n.561-5711A>T c.989T>A (p.Phe330Tyr) c.1241T>A (p.Phe414Tyr) | |
5 | g.132340637T>C | CA360813201 | MIR3936HG,SLC22A4 | c.1517T>C (p.Phe506Ser) n.561-5711A>G c.989T>C (p.Phe330Ser) c.1241T>C (p.Phe414Ser) | |
5 | g.132340637T>G | CA360813206 | MIR3936HG,SLC22A4 | c.1517T>G (p.Phe506Cys) n.561-5711A>C c.989T>G (p.Phe330Cys) c.1241T>G (p.Phe414Cys) | |
5 | g.132340638T>A | CA360813207 | MIR3936HG,SLC22A4 | c.1518T>A (p.Phe506Leu) n.561-5712A>T c.990T>A (p.Phe330Leu) c.1242T>A (p.Phe414Leu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132340638T>C | CA446340387 | MIR3936HG,SLC22A4 | c.1518T>C (p.Phe506=) n.561-5712A>G c.990T>C (p.Phe330=) c.1242T>C (p.Phe414=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.132340638T>G | CA360813208 | MIR3936HG,SLC22A4 | c.1518T>G (p.Phe506Leu) n.561-5712A>C c.990T>G (p.Phe330Leu) c.1242T>G (p.Phe414Leu) | |
5 | g.132340638T= | CA1583125035 | MIR3936HG,SLC22A4 | c.1518T= (p.Phe506=) n.561-5712A= c.990T= (p.Phe330=) c.1242T= (p.Phe414=) | |
5 | g.132340639T>A | CA360813210 | MIR3936HG,SLC22A4 | c.1519T>A (p.Phe507Ile) n.561-5713A>T c.991T>A (p.Phe331Ile) c.1243T>A (p.Phe415Ile) | |
5 | g.132340639T>C | CA360813212 | MIR3936HG,SLC22A4 | c.1519T>C (p.Phe507Leu) n.561-5713A>G c.991T>C (p.Phe331Leu) c.1243T>C (p.Phe415Leu) | gnomAD v4 |
5 | g.132340639T>G | CA360813215 | MIR3936HG,SLC22A4 | c.1519T>G (p.Phe507Val) n.561-5713A>C c.991T>G (p.Phe331Val) c.1243T>G (p.Phe415Val) | |
5 | g.132340640T>A | CA360813219 | MIR3936HG,SLC22A4 | c.1520T>A (p.Phe507Tyr) n.561-5714A>T c.992T>A (p.Phe331Tyr) c.1244T>A (p.Phe415Tyr) | |
5 | g.132340640T>C | CA3403714 | MIR3936HG,SLC22A4 | c.1520T>C (p.Phe507Ser) n.561-5714A>G c.992T>C (p.Phe331Ser) c.1244T>C (p.Phe415Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.132340640T>G | CA360813221 | MIR3936HG,SLC22A4 | c.1520T>G (p.Phe507Cys) n.561-5714A>C c.992T>G (p.Phe331Cys) c.1244T>G (p.Phe415Cys) | |
5 | g.132340640T= | CA1583125036 | MIR3936HG,SLC22A4 | c.1520T= (p.Phe507=) n.561-5714A= c.992T= (p.Phe331=) c.1244T= (p.Phe415=) | |
5 | g.132340641C>A | CA360813225 | MIR3936HG,SLC22A4 | c.1521C>A (p.Phe507Leu) n.561-5715G>T c.993C>A (p.Phe331Leu) c.1245C>A (p.Phe415Leu) | |
5 | g.132340641C>G | CA360813226 | MIR3936HG,SLC22A4 | c.1521C>G (p.Phe507Leu) n.561-5715G>C c.993C>G (p.Phe331Leu) c.1245C>G (p.Phe415Leu) | |
5 | g.132340641C>T | CA446340408 | MIR3936HG,SLC22A4 | c.1521C>T (p.Phe507=) n.561-5715G>A c.993C>T (p.Phe331=) c.1245C>T (p.Phe415=) | |
5 | g.132340643dup | CA2768422476 | MIR3936HG,SLC22A4 | c.1523dup (p.Glu509Ter) n.561-5715dup c.995dup (p.Glu333Ter) c.1247dup (p.Glu417Ter) | |
5 | g.132340643del | CA2675193389 | MIR3936HG,SLC22A4 | c.1523del (p.Pro508LeufsTer6) n.561-5715del c.995del (p.Pro332LeufsTer6) c.1247del (p.Pro416LeufsTer6) | gnomAD v4 |
5 | g.132340641_132340649del | CA2768422477 | MIR3936HG,SLC22A4 | c.1521_1529del (p.Pro508_Ser510del) n.561-5723_561-5715del c.993_1001del (p.Pro332_Ser334del) c.1245_1253del (p.Pro416_Ser418del) | |
5 | g.132340642C>A | CA360813228 | MIR3936HG,SLC22A4 | c.1522C>A (p.Pro508Thr) n.561-5716G>T c.994C>A (p.Pro332Thr) c.1246C>A (p.Pro416Thr) | |
5 | g.132340642C= | CA1583125037 | MIR3936HG,SLC22A4 | c.1522C= (p.Pro508=) n.561-5716G= c.994C= (p.Pro332=) c.1246C= (p.Pro416=) | |
5 | g.132340642C>G | CA360813230 | MIR3936HG,SLC22A4 | c.1522C>G (p.Pro508Ala) n.561-5716G>C c.994C>G (p.Pro332Ala) c.1246C>G (p.Pro416Ala) | |
5 | g.132340642C>T | CA360813231 | MIR3936HG,SLC22A4 | c.1522C>T (p.Pro508Ser) n.561-5716G>A c.994C>T (p.Pro332Ser) c.1246C>T (p.Pro416Ser) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.132340643C>A | CA360813232 | MIR3936HG,SLC22A4 | c.1523C>A (p.Pro508His) n.561-5717G>T c.995C>A (p.Pro332His) c.1247C>A (p.Pro416His) | gnomAD v4 |
5 | g.132340643C>G | CA360813237 | MIR3936HG,SLC22A4 | c.1523C>G (p.Pro508Arg) n.561-5717G>C c.995C>G (p.Pro332Arg) c.1247C>G (p.Pro416Arg) | |
5 | g.132340643C>T | CA360813241 | MIR3936HG,SLC22A4 | c.1523C>T (p.Pro508Leu) n.561-5717G>A c.995C>T (p.Pro332Leu) c.1247C>T (p.Pro416Leu) | |
5 | g.132340644del | CA2675193390 | MIR3936HG,SLC22A4 | c.1524del (p.Glu509LysfsTer5) n.561-5718del c.996del (p.Glu333LysfsTer5) c.1248del (p.Glu417LysfsTer5) | gnomAD v4 |
5 | g.132340644T>A | CA446340417 | MIR3936HG,SLC22A4 | c.1524T>A (p.Pro508=) n.561-5718A>T c.996T>A (p.Pro332=) c.1248T>A (p.Pro416=) | |
5 | g.132340644T>C | CA446340428 | MIR3936HG,SLC22A4 | c.1524T>C (p.Pro508=) n.561-5718A>G c.996T>C (p.Pro332=) c.1248T>C (p.Pro416=) | |
5 | g.132340644T>G | CA446340431 | MIR3936HG,SLC22A4 | c.1524T>G (p.Pro508=) n.561-5718A>C c.996T>G (p.Pro332=) c.1248T>G (p.Pro416=) | |
5 | g.132340645del | CA2578401906 | MIR3936HG,SLC22A4 | c.1525del (p.Glu509LysfsTer5) n.561-5719del c.997del (p.Glu333LysfsTer5) c.1249del (p.Glu417LysfsTer5) | |
5 | g.132340645G>A | CA360813244 | MIR3936HG,SLC22A4 | c.1525G>A (p.Glu509Lys) n.561-5719C>T c.997G>A (p.Glu333Lys) c.1249G>A (p.Glu417Lys) | |
5 | g.132340645G>C | CA360813247 | MIR3936HG,SLC22A4 | c.1525G>C (p.Glu509Gln) n.561-5719C>G c.997G>C (p.Glu333Gln) c.1249G>C (p.Glu417Gln) | gnomAD v4 |
5 | g.132340645G>T | CA360813250 | MIR3936HG,SLC22A4 | c.1525G>T (p.Glu509Ter) n.561-5719C>A c.997G>T (p.Glu333Ter) c.1249G>T (p.Glu417Ter) | |
5 | g.132340646A= | CA1583125038 | MIR3936HG,SLC22A4 | c.1526A= (p.Glu509=) n.561-5720T= c.998A= (p.Glu333=) c.1250A= (p.Glu417=) | |
5 | g.132340646A>C | CA360813253 | MIR3936HG,SLC22A4 | c.1526A>C (p.Glu509Ala) n.561-5720T>G c.998A>C (p.Glu333Ala) c.1250A>C (p.Glu417Ala) | |
5 | g.132340646A>G | CA360813261 | MIR3936HG,SLC22A4 | c.1526A>G (p.Glu509Gly) n.561-5720T>C c.998A>G (p.Glu333Gly) c.1250A>G (p.Glu417Gly) | |
5 | g.132340646A>T | CA3403715 | MIR3936HG,SLC22A4 | c.1526A>T (p.Glu509Val) n.561-5720T>A c.998A>T (p.Glu333Val) c.1250A>T (p.Glu417Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.132340647A>C | CA360813269 | MIR3936HG,SLC22A4 | c.1527A>C (p.Glu509Asp) n.561-5721T>G c.999A>C (p.Glu333Asp) c.1251A>C (p.Glu417Asp) | |
5 | g.132340647A>G | CA446340456 | MIR3936HG,SLC22A4 | c.1527A>G (p.Glu509=) n.561-5721T>C c.999A>G (p.Glu333=) c.1251A>G (p.Glu417=) | |
5 | g.132340647A>T | CA360813268 | MIR3936HG,SLC22A4 | c.1527A>T (p.Glu509Asp) n.561-5721T>A c.999A>T (p.Glu333Asp) c.1251A>T (p.Glu417Asp) | |
5 | g.132340648A>C | CA360813270 | MIR3936HG,SLC22A4 | c.1528A>C (p.Ser510Arg) n.561-5722T>G c.1000A>C (p.Ser334Arg) c.1252A>C (p.Ser418Arg) | |
5 | g.132340648A>G | CA360813271 | MIR3936HG,SLC22A4 | c.1528A>G (p.Ser510Gly) n.561-5722T>C c.1000A>G (p.Ser334Gly) c.1252A>G (p.Ser418Gly) | |
5 | g.132340648A>T | CA360813274 | MIR3936HG,SLC22A4 | c.1528A>T (p.Ser510Cys) n.561-5722T>A c.1000A>T (p.Ser334Cys) c.1252A>T (p.Ser418Cys) | |
5 | g.132340649G>A | CA360813276 | MIR3936HG,SLC22A4 | c.1529G>A (p.Ser510Asn) n.561-5723C>T c.1001G>A (p.Ser334Asn) c.1253G>A (p.Ser418Asn) | |
5 | g.132340649G>C | CA360813281 | MIR3936HG,SLC22A4 | c.1529G>C (p.Ser510Thr) n.561-5723C>G c.1001G>C (p.Ser334Thr) c.1253G>C (p.Ser418Thr) | |
5 | g.132340649G= | CA1583125039 | MIR3936HG,SLC22A4 | c.1529G= (p.Ser510=) n.561-5723C= c.1001G= (p.Ser334=) c.1253G= (p.Ser418=) | |
5 | g.132340649G>T | CA360813283 | MIR3936HG,SLC22A4 | c.1529G>T (p.Ser510Ile) n.561-5723C>A c.1001G>T (p.Ser334Ile) c.1253G>T (p.Ser418Ile) | |
5 | g.132340650T>A | CA360813284 | MIR3936HG,SLC22A4 | c.1530T>A (p.Ser510Arg) n.561-5724A>T c.1002T>A (p.Ser334Arg) c.1254T>A (p.Ser418Arg) | |
5 | g.132340650T>C | CA446340475 | MIR3936HG,SLC22A4 | c.1530T>C (p.Ser510=) n.561-5724A>G c.1002T>C (p.Ser334=) c.1254T>C (p.Ser418=) | |
5 | g.132340650T>G | CA360813285 | MIR3936HG,SLC22A4 | c.1530T>G (p.Ser510Arg) n.561-5724A>C c.1002T>G (p.Ser334Arg) c.1254T>G (p.Ser418Arg) | |
5 | g.132340652_132340653insTTTTT | CA2768422480 | MIR3936HG,SLC22A4 | c.1532_1533insTTTTT (p.Leu511PhefsTer5) n.561-5724_561-5723insAAAAA c.1004_1005insTTTTT (p.Leu335PhefsTer5) c.1256_1257insTTTTT (p.Leu419PhefsTer5) | |
5 | g.132340652_132340653insTTTTTTTT | CA2768422481 | MIR3936HG,SLC22A4 | c.1532_1533insTTTTTTTT (p.Leu511PhefsTer6) n.561-5724_561-5723insAAAAAAAA c.1004_1005insTTTTTTTT (p.Leu335PhefsTer6) c.1256_1257insTTTTTTTT (p.Leu419PhefsTer6) | |
5 | g.132340652_132340653insTTTTTTTTT | CA562764491 | MIR3936HG,SLC22A4 | c.1532_1533insTTTTTTTTT (p.Ser510_Leu511insPhePhePhe) n.561-5724_561-5723insAAAAAAAAA c.1004_1005insTTTTTTTTT (p.Ser334_Leu335insPhePhePhe) c.1256_1257insTTTTTTTTT (p.Ser418_Leu419insPhePhePhe) | dbSNP gnomAD v2 |
5 | g.132340651T>A | CA360813286 | MIR3936HG,SLC22A4 | c.1531T>A (p.Leu511Met) n.561-5725A>T c.1003T>A (p.Leu335Met) c.1255T>A (p.Leu419Met) | |
5 | g.132340651T>C | CA446340479 | MIR3936HG,SLC22A4 | c.1531T>C (p.Leu511=) n.561-5725A>G c.1003T>C (p.Leu335=) c.1255T>C (p.Leu419=) | |
5 | g.132340651T>G | CA360813287 | MIR3936HG,SLC22A4 | c.1531T>G (p.Leu511Val) n.561-5725A>C c.1003T>G (p.Leu335Val) c.1255T>G (p.Leu419Val) | |
5 | g.132340652T>A | CA360813290 | MIR3936HG,SLC22A4 | c.1532T>A (p.Leu511Ter) n.561-5726A>T c.1004T>A (p.Leu335Ter) c.1256T>A (p.Leu419Ter) | |
5 | g.132340652T>C | CA360813291 | MIR3936HG,SLC22A4 | c.1532T>C (p.Leu511Ser) n.561-5726A>G c.1004T>C (p.Leu335Ser) c.1256T>C (p.Leu419Ser) | |
5 | g.132340652T>G | CA360813296 | MIR3936HG,SLC22A4 | c.1532T>G (p.Leu511Trp) n.561-5726A>C c.1004T>G (p.Leu335Trp) c.1256T>G (p.Leu419Trp) | |
5 | g.132340653G>A | CA446340486 | MIR3936HG,SLC22A4 | c.1533G>A (p.Leu511=) n.561-5727C>T c.1005G>A (p.Leu335=) c.1257G>A (p.Leu419=) | |
5 | g.132340653G>C | CA360813299 | MIR3936HG,SLC22A4 | c.1533G>C (p.Leu511Phe) n.561-5727C>G c.1005G>C (p.Leu335Phe) c.1257G>C (p.Leu419Phe) | |
5 | g.132340653G>T | CA360813303 | MIR3936HG,SLC22A4 | c.1533G>T (p.Leu511Phe) n.561-5727C>A c.1005G>T (p.Leu335Phe) c.1257G>T (p.Leu419Phe) | |
5 | g.132340654G>A | CA360813304 | MIR3936HG,SLC22A4 | c.1534G>A (p.Gly512Arg) n.561-5728C>T c.1006G>A (p.Gly336Arg) c.1258G>A (p.Gly420Arg) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.132340654G>C | CA360813309 | MIR3936HG,SLC22A4 | c.1534G>C (p.Gly512Arg) n.561-5728C>G c.1006G>C (p.Gly336Arg) c.1258G>C (p.Gly420Arg) | dbSNP |
5 | g.132340654G= | CA1583125040 | MIR3936HG,SLC22A4 | c.1534G= (p.Gly512=) n.561-5728C= c.1006G= (p.Gly336=) c.1258G= (p.Gly420=) | |
5 | g.132340654G>T | CA360813306 | MIR3936HG,SLC22A4 | c.1534G>T (p.Gly512Ter) n.561-5728C>A c.1006G>T (p.Gly336Ter) c.1258G>T (p.Gly420Ter) | |
5 | g.132340655G>A | CA360813311 | MIR3936HG,SLC22A4 | c.1535G>A (p.Gly512Glu) n.561-5729C>T c.1007G>A (p.Gly336Glu) c.1259G>A (p.Gly420Glu) | |
5 | g.132340655G>C | CA360813312 | MIR3936HG,SLC22A4 | c.1535G>C (p.Gly512Ala) n.561-5729C>G c.1007G>C (p.Gly336Ala) c.1259G>C (p.Gly420Ala) | |
5 | g.132340655G>T | CA360813313 | MIR3936HG,SLC22A4 | c.1535G>T (p.Gly512Val) n.561-5729C>A c.1007G>T (p.Gly336Val) c.1259G>T (p.Gly420Val) | |
5 | g.132340656A= | CA1583125041 | MIR3936HG,SLC22A4 | c.1536A= (p.Gly512=) n.561-5730T= c.1008A= (p.Gly336=) c.1260A= (p.Gly420=) | |
5 | g.132340656A>C | CA446340507 | MIR3936HG,SLC22A4 | c.1536A>C (p.Gly512=) n.561-5730T>G c.1008A>C (p.Gly336=) c.1260A>C (p.Gly420=) | |
5 | g.132340656A>G | CA446340509 | MIR3936HG,SLC22A4 | c.1536A>G (p.Gly512=) n.561-5730T>C c.1008A>G (p.Gly336=) c.1260A>G (p.Gly420=) | |
5 | g.132340656A>T | CA446340511 | MIR3936HG,SLC22A4 | c.1536A>T (p.Gly512=) n.561-5730T>A c.1008A>T (p.Gly336=) c.1260A>T (p.Gly420=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.132340657A>C | CA360813315 | MIR3936HG,SLC22A4 | c.1537A>C (p.Met513Leu) n.561-5731T>G c.1009A>C (p.Met337Leu) c.1261A>C (p.Met421Leu) | |
5 | g.132340657A>G | CA360813317 | MIR3936HG,SLC22A4 | c.1537A>G (p.Met513Val) n.561-5731T>C c.1009A>G (p.Met337Val) c.1261A>G (p.Met421Val) | |
5 | g.132340657A>T | CA360813321 | MIR3936HG,SLC22A4 | c.1537A>T (p.Met513Leu) n.561-5731T>A c.1009A>T (p.Met337Leu) c.1261A>T (p.Met421Leu) | |
5 | g.132340658T>A | CA360813327 | MIR3936HG,SLC22A4 | c.1538T>A (p.Met513Lys) n.561-5732A>T c.1010T>A (p.Met337Lys) c.1262T>A (p.Met421Lys) | |
5 | g.132340658T>C | CA360813332 | MIR3936HG,SLC22A4 | c.1538T>C (p.Met513Thr) n.561-5732A>G c.1010T>C (p.Met337Thr) c.1262T>C (p.Met421Thr) | |
5 | g.132340658T>G | CA360813335 | MIR3936HG,SLC22A4 | c.1538T>G (p.Met513Arg) n.561-5732A>C c.1010T>G (p.Met337Arg) c.1262T>G (p.Met421Arg) | |
5 | g.132340659del | CA2675193391 | MIR3936HG,SLC22A4 | c.1539del (p.Met513IlefsTer7) n.561-5733del c.1011del (p.Met337IlefsTer7) c.1263del (p.Met421IlefsTer7) | gnomAD v4 |
5 | g.132340659G>A | CA360813343 | MIR3936HG,SLC22A4 | c.1539G>A (p.Met513Ile) n.561-5733C>T c.1011G>A (p.Met337Ile) c.1263G>A (p.Met421Ile) | |
5 | g.132340659G>C | CA360813344 | MIR3936HG,SLC22A4 | c.1539G>C (p.Met513Ile) n.561-5733C>G c.1011G>C (p.Met337Ile) c.1263G>C (p.Met421Ile) | |
5 | g.132340659G>T | CA360813345 | MIR3936HG,SLC22A4 | c.1539G>T (p.Met513Ile) n.561-5733C>A c.1011G>T (p.Met337Ile) c.1263G>T (p.Met421Ile) | dbSNP gnomAD v4 |
5 | g.132340660A>C | CA360813353 | MIR3936HG,SLC22A4 | c.1540A>C (p.Thr514Pro) n.561-5734T>G c.1012A>C (p.Thr338Pro) c.1264A>C (p.Thr422Pro) | |
5 | g.132340660A>G | CA360813350 | MIR3936HG,SLC22A4 | c.1540A>G (p.Thr514Ala) n.561-5734T>C c.1012A>G (p.Thr338Ala) c.1264A>G (p.Thr422Ala) | |
5 | g.132340660A>T | CA360813348 | MIR3936HG,SLC22A4 | c.1540A>T (p.Thr514Ser) n.561-5734T>A c.1012A>T (p.Thr338Ser) c.1264A>T (p.Thr422Ser) | |
5 | g.132340661C>A | CA360813356 | MIR3936HG,SLC22A4 | c.1541C>A (p.Thr514Asn) n.561-5735G>T c.1013C>A (p.Thr338Asn) c.1265C>A (p.Thr422Asn) | |
5 | g.132340661C>G | CA360813360 | MIR3936HG,SLC22A4 | c.1541C>G (p.Thr514Ser) n.561-5735G>C c.1013C>G (p.Thr338Ser) c.1265C>G (p.Thr422Ser) | |
5 | g.132340661C>T | CA360813359 | MIR3936HG,SLC22A4 | c.1541C>T (p.Thr514Ile) n.561-5735G>A c.1013C>T (p.Thr338Ile) c.1265C>T (p.Thr422Ile) | |
5 | g.132340662T>A | CA446340558 | MIR3936HG,SLC22A4 | c.1542T>A (p.Thr514=) n.561-5736A>T c.1014T>A (p.Thr338=) c.1266T>A (p.Thr422=) | |
5 | g.132340662T>C | CA127207320 | MIR3936HG,SLC22A4 | c.1542T>C (p.Thr514=) n.561-5736A>G c.1014T>C (p.Thr338=) c.1266T>C (p.Thr422=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132340662T>G | CA446340568 | MIR3936HG,SLC22A4 | c.1542T>G (p.Thr514=) n.561-5736A>C c.1014T>G (p.Thr338=) c.1266T>G (p.Thr422=) | gnomAD v4 |
5 | g.132340662T= | CA1583125042 | MIR3936HG,SLC22A4 | c.1542T= (p.Thr514=) n.561-5736A= c.1014T= (p.Thr338=) c.1266T= (p.Thr422=) | |
5 | g.132340663C>A | CA127207340 | MIR3936HG,SLC22A4 | c.1543C>A (p.Leu515Ile) n.561-5737G>T c.1015C>A (p.Leu339Ile) c.1267C>A (p.Leu423Ile) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132340663C= | CA1583125043 | MIR3936HG,SLC22A4 | c.1543C= (p.Leu515=) n.561-5737G= c.1015C= (p.Leu339=) c.1267C= (p.Leu423=) | |
5 | g.132340663C>G | CA360813363 | MIR3936HG,SLC22A4 | c.1543C>G (p.Leu515Val) n.561-5737G>C c.1015C>G (p.Leu339Val) c.1267C>G (p.Leu423Val) | gnomAD v4 |
5 | g.132340663C>T | CA3403716 | MIR3936HG,SLC22A4 | c.1543C>T (p.Leu515Phe) n.561-5737G>A c.1015C>T (p.Leu339Phe) c.1267C>T (p.Leu423Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132340664T>A | CA360813366 | MIR3936HG,SLC22A4 | c.1544T>A (p.Leu515His) n.561-5738A>T c.1016T>A (p.Leu339His) c.1268T>A (p.Leu423His) | |
5 | g.132340664T>C | CA360813369 | MIR3936HG,SLC22A4 | c.1544T>C (p.Leu515Pro) n.561-5738A>G c.1016T>C (p.Leu339Pro) c.1268T>C (p.Leu423Pro) | gnomAD v4 |
5 | g.132340664T>G | CA360813371 | MIR3936HG,SLC22A4 | c.1544T>G (p.Leu515Arg) n.561-5738A>C c.1016T>G (p.Leu339Arg) c.1268T>G (p.Leu423Arg) | |
5 | g.132340665T>A | CA446340584 | MIR3936HG,SLC22A4 | c.1545T>A (p.Leu515=) n.561-5739A>T c.1017T>A (p.Leu339=) c.1269T>A (p.Leu423=) | |
5 | g.132340665T>C | CA446340586 | MIR3936HG,SLC22A4 | c.1545T>C (p.Leu515=) n.561-5739A>G c.1017T>C (p.Leu339=) c.1269T>C (p.Leu423=) | |
5 | g.132340665T>G | CA446340598 | MIR3936HG,SLC22A4 | c.1545T>G (p.Leu515=) n.561-5739A>C c.1017T>G (p.Leu339=) c.1269T>G (p.Leu423=) | |
5 | g.132340666C>A | CA360813374 | MIR3936HG,SLC22A4 | c.1546C>A (p.Pro516Thr) n.561-5740G>T c.1018C>A (p.Pro340Thr) c.1270C>A (p.Pro424Thr) | |
5 | g.132340666C= | CA1583125044 | MIR3936HG,SLC22A4 | c.1546C= (p.Pro516=) n.561-5740G= c.1018C= (p.Pro340=) c.1270C= (p.Pro424=) | |
5 | g.132340666C>G | CA360813375 | MIR3936HG,SLC22A4 | c.1546C>G (p.Pro516Ala) n.561-5740G>C c.1018C>G (p.Pro340Ala) c.1270C>G (p.Pro424Ala) | |
5 | g.132340666C>T | CA360813376 | MIR3936HG,SLC22A4 | c.1546C>T (p.Pro516Ser) n.561-5740G>A c.1018C>T (p.Pro340Ser) c.1270C>T (p.Pro424Ser) | dbSNP COSMIC |
5 | g.132340667C>A | CA360813379 | MIR3936HG,SLC22A4 | c.1547C>A (p.Pro516Gln) n.561-5741G>T c.1019C>A (p.Pro340Gln) c.1271C>A (p.Pro424Gln) | |
5 | g.132340667C>G | CA360813381 | MIR3936HG,SLC22A4 | c.1547C>G (p.Pro516Arg) n.561-5741G>C c.1019C>G (p.Pro340Arg) c.1271C>G (p.Pro424Arg) | |
5 | g.132340667C>T | CA360813383 | MIR3936HG,SLC22A4 | c.1547C>T (p.Pro516Leu) n.561-5741G>A c.1019C>T (p.Pro340Leu) c.1271C>T (p.Pro424Leu) | |
5 | g.132340668A>C | CA446340617 | MIR3936HG,SLC22A4 | c.1548A>C (p.Pro516=) n.561-5742T>G c.1020A>C (p.Pro340=) c.1272A>C (p.Pro424=) | |
5 | g.132340668A>G | CA446340620 | MIR3936HG,SLC22A4 | c.1548A>G (p.Pro516=) n.561-5742T>C c.1020A>G (p.Pro340=) c.1272A>G (p.Pro424=) | |
5 | g.132340668A>T | CA446340622 | MIR3936HG,SLC22A4 | c.1548A>T (p.Pro516=) n.561-5742T>A c.1020A>T (p.Pro340=) c.1272A>T (p.Pro424=) | |
5 | g.132340669G>A | CA360813389 | MIR3936HG,SLC22A4 | c.1549G>A (p.Glu517Lys) n.561-5743C>T c.1021G>A (p.Glu341Lys) c.1273G>A (p.Glu425Lys) | |
5 | g.132340669G>C | CA360813392 | MIR3936HG,SLC22A4 | c.1549G>C (p.Glu517Gln) n.561-5743C>G c.1021G>C (p.Glu341Gln) c.1273G>C (p.Glu425Gln) | |
5 | g.132340669G>T | CA360813391 | MIR3936HG,SLC22A4 | c.1549G>T (p.Glu517Ter) n.561-5743C>A c.1021G>T (p.Glu341Ter) c.1273G>T (p.Glu425Ter) | |
5 | g.132340670A>C | CA360813395 | MIR3936HG,SLC22A4 | c.1550A>C (p.Glu517Ala) n.561-5744T>G c.1022A>C (p.Glu341Ala) c.1274A>C (p.Glu425Ala) | COSMIC |
5 | g.132340670A>G | CA360813398 | MIR3936HG,SLC22A4 | c.1550A>G (p.Glu517Gly) n.561-5744T>C c.1022A>G (p.Glu341Gly) c.1274A>G (p.Glu425Gly) | |
5 | g.132340670A>T | CA360813400 | MIR3936HG,SLC22A4 | c.1550A>T (p.Glu517Val) n.561-5744T>A c.1022A>T (p.Glu341Val) c.1274A>T (p.Glu425Val) | gnomAD v4 |
5 | g.132340671A>C | CA360813401 | MIR3936HG,SLC22A4 | c.1551A>C (p.Glu517Asp) n.561-5745T>G c.1023A>C (p.Glu341Asp) c.1275A>C (p.Glu425Asp) | |
5 | g.132340671A>G | CA446340646 | MIR3936HG,SLC22A4 | c.1551A>G (p.Glu517=) n.561-5745T>C c.1023A>G (p.Glu341=) c.1275A>G (p.Glu425=) | ClinVar |
5 | g.132340671A>T | CA360813402 | MIR3936HG,SLC22A4 | c.1551A>T (p.Glu517Asp) n.561-5745T>A c.1023A>T (p.Glu341Asp) c.1275A>T (p.Glu425Asp) | |
5 | g.132340672A>C | CA360813403 | MIR3936HG,SLC22A4 | c.1552A>C (p.Thr518Pro) n.561-5746T>G c.1024A>C (p.Thr342Pro) c.1276A>C (p.Thr426Pro) | |
5 | g.132340672A>G | CA360813405 | MIR3936HG,SLC22A4 | c.1552A>G (p.Thr518Ala) n.561-5746T>C c.1024A>G (p.Thr342Ala) c.1276A>G (p.Thr426Ala) | |
5 | g.132340672A>T | CA360813408 | MIR3936HG,SLC22A4 | c.1552A>T (p.Thr518Ser) n.561-5746T>A c.1024A>T (p.Thr342Ser) c.1276A>T (p.Thr426Ser) | |
5 | g.132340673C>A | CA360813410 | MIR3936HG,SLC22A4 | c.1553C>A (p.Thr518Asn) n.561-5747G>T c.1025C>A (p.Thr342Asn) c.1277C>A (p.Thr426Asn) | |
5 | g.132340673C>G | CA360813412 | MIR3936HG,SLC22A4 | c.1553C>G (p.Thr518Ser) n.561-5747G>C c.1025C>G (p.Thr342Ser) c.1277C>G (p.Thr426Ser) | |
5 | g.132340673C>T | CA360813414 | MIR3936HG,SLC22A4 | c.1553C>T (p.Thr518Ile) n.561-5747G>A c.1025C>T (p.Thr342Ile) c.1277C>T (p.Thr426Ile) | |
5 | g.132340674C>A | CA446340657 | MIR3936HG,SLC22A4 | c.1554C>A (p.Thr518=) n.561-5748G>T c.1026C>A (p.Thr342=) c.1278C>A (p.Thr426=) | |
5 | g.132340674C>G | CA446340660 | MIR3936HG,SLC22A4 | c.1554C>G (p.Thr518=) n.561-5748G>C c.1026C>G (p.Thr342=) c.1278C>G (p.Thr426=) | |
5 | g.132340674C>T | CA446340662 | MIR3936HG,SLC22A4 | c.1554C>T (p.Thr518=) n.561-5748G>A c.1026C>T (p.Thr342=) c.1278C>T (p.Thr426=) | |
5 | g.132340675T>A | CA360813419 | MIR3936HG,SLC22A4 | c.1555T>A (p.Leu519Ile) n.561-5749A>T c.1027T>A (p.Leu343Ile) c.1279T>A (p.Leu427Ile) | |
5 | g.132340675T>C | CA446340667 | MIR3936HG,SLC22A4 | c.1555T>C (p.Leu519=) n.561-5749A>G c.1027T>C (p.Leu343=) c.1279T>C (p.Leu427=) | |
5 | g.132340675T>G | CA360813416 | MIR3936HG,SLC22A4 | c.1555T>G (p.Leu519Val) n.561-5749A>C c.1027T>G (p.Leu343Val) c.1279T>G (p.Leu427Val) | |
5 | g.132340676T>A | CA360813423 | MIR3936HG,SLC22A4 | c.1556T>A (p.Leu519Ter) n.561-5750A>T c.1028T>A (p.Leu343Ter) c.1280T>A (p.Leu427Ter) | |
5 | g.132340676T>C | CA360813424 | MIR3936HG,SLC22A4 | c.1556T>C (p.Leu519Ser) n.561-5750A>G c.1028T>C (p.Leu343Ser) c.1280T>C (p.Leu427Ser) | |
5 | g.132340676T>G | CA360813426 | MIR3936HG,SLC22A4 | c.1556T>G (p.Leu519Ter) n.561-5750A>C c.1028T>G (p.Leu343Ter) c.1280T>G (p.Leu427Ter) | |
5 | g.132340677A= | CA1583125045 | MIR3936HG,SLC22A4 | c.1557A= (p.Leu519=) n.561-5751T= c.1029A= (p.Leu343=) c.1281A= (p.Leu427=) | |
5 | g.132340677A>C | CA3403717 | MIR3936HG,SLC22A4 | c.1557A>C (p.Leu519Phe) n.561-5751T>G c.1029A>C (p.Leu343Phe) c.1281A>C (p.Leu427Phe) | dbSNP ExAC gnomAD v2 |
5 | g.132340677A>G | CA446340682 | MIR3936HG,SLC22A4 | c.1557A>G (p.Leu519=) n.561-5751T>C c.1029A>G (p.Leu343=) c.1281A>G (p.Leu427=) | |
5 | g.132340677A>T | CA360813427 | MIR3936HG,SLC22A4 | c.1557A>T (p.Leu519Phe) n.561-5751T>A c.1029A>T (p.Leu343Phe) c.1281A>T (p.Leu427Phe) | |
5 | g.132340678G>A | CA360813428 | MIR3936HG,SLC22A4 | c.1558G>A (p.Glu520Lys) n.561-5752C>T c.1030G>A (p.Glu344Lys) c.1282G>A (p.Glu428Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
5 | g.132340678G>C | CA3403718 | MIR3936HG,SLC22A4 | c.1558G>C (p.Glu520Gln) n.561-5752C>G c.1030G>C (p.Glu344Gln) c.1282G>C (p.Glu428Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.132340678G= | CA1583125046 | MIR3936HG,SLC22A4 | c.1558G= (p.Glu520=) n.561-5752C= c.1030G= (p.Glu344=) c.1282G= (p.Glu428=) | |
5 | g.132340678G>T | CA360813429 | MIR3936HG,SLC22A4 | c.1558G>T (p.Glu520Ter) n.561-5752C>A c.1030G>T (p.Glu344Ter) c.1282G>T (p.Glu428Ter) | |
5 | g.132340679A>C | CA360813431 | MIR3936HG,SLC22A4 | c.1559A>C (p.Glu520Ala) n.561-5753T>G c.1031A>C (p.Glu344Ala) c.1283A>C (p.Glu428Ala) | |
5 | g.132340679A>G | CA360813433 | MIR3936HG,SLC22A4 | c.1559A>G (p.Glu520Gly) n.561-5753T>C c.1031A>G (p.Glu344Gly) c.1283A>G (p.Glu428Gly) | gnomAD v4 |
5 | g.132340679A>T | CA360813434 | MIR3936HG,SLC22A4 | c.1559A>T (p.Glu520Val) n.561-5753T>A c.1031A>T (p.Glu344Val) c.1283A>T (p.Glu428Val) | |
5 | g.132340680G>A | CA446340699 | MIR3936HG,SLC22A4 | c.1560G>A (p.Glu520=) n.561-5754C>T c.1032G>A (p.Glu344=) c.1284G>A (p.Glu428=) | |
5 | g.132340680G>C | CA360813436 | MIR3936HG,SLC22A4 | c.1560G>C (p.Glu520Asp) n.561-5754C>G c.1032G>C (p.Glu344Asp) c.1284G>C (p.Glu428Asp) | |
5 | g.132340680G>T | CA360813438 | MIR3936HG,SLC22A4 | c.1560G>T (p.Glu520Asp) n.561-5754C>A c.1032G>T (p.Glu344Asp) c.1284G>T (p.Glu428Asp) | |
5 | g.132340681C>A | CA360813445 | MIR3936HG,SLC22A4 | c.1561C>A (p.Gln521Lys) n.561-5755G>T c.1033C>A (p.Gln345Lys) c.1285C>A (p.Gln429Lys) | |
5 | g.132340681C>G | CA360813443 | MIR3936HG,SLC22A4 | c.1561C>G (p.Gln521Glu) n.561-5755G>C c.1033C>G (p.Gln345Glu) c.1285C>G (p.Gln429Glu) | |
5 | g.132340681C>T | CA360813440 | MIR3936HG,SLC22A4 | c.1561C>T (p.Gln521Ter) n.561-5755G>A c.1033C>T (p.Gln345Ter) c.1285C>T (p.Gln429Ter) | |
5 | g.132340682A>C | CA360813448 | MIR3936HG,SLC22A4 | c.1562A>C (p.Gln521Pro) n.561-5756T>G c.1034A>C (p.Gln345Pro) c.1286A>C (p.Gln429Pro) | |
5 | g.132340682A>G | CA360813450 | MIR3936HG,SLC22A4 | c.1562A>G (p.Gln521Arg) n.561-5756T>C c.1034A>G (p.Gln345Arg) c.1286A>G (p.Gln429Arg) | |
5 | g.132340682A>T | CA360813452 | MIR3936HG,SLC22A4 | c.1562A>T (p.Gln521Leu) n.561-5756T>A c.1034A>T (p.Gln345Leu) c.1286A>T (p.Gln429Leu) | |
5 | g.132340683del | CA2675193392 | MIR3936HG,SLC22A4 | c.1563del (p.Met522CysfsTer4) n.561-5757del c.1035del (p.Met346CysfsTer4) c.1287del (p.Met430CysfsTer4) | gnomAD v4 |
5 | g.132340683G>A | CA446340723 | MIR3936HG,SLC22A4 | c.1563G>A (p.Gln521=) n.561-5757C>T c.1035G>A (p.Gln345=) c.1287G>A (p.Gln429=) | |
5 | g.132340683G>C | CA360813461 | MIR3936HG,SLC22A4 | c.1563G>C (p.Gln521His) n.561-5757C>G c.1035G>C (p.Gln345His) c.1287G>C (p.Gln429His) | |
5 | g.132340683G>T | CA360813464 | MIR3936HG,SLC22A4 | c.1563G>T (p.Gln521His) n.561-5757C>A c.1035G>T (p.Gln345His) c.1287G>T (p.Gln429His) |