Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.31070021C>A | CA391536822 | TRPM1 | c.213+10G>T (n.213+10G>T) c.330+10G>T (n.330+10G>T) c.223G>T (p.Ala75Ser) c.279+10G>T (n.279+10G>T) | |
15 | g.31070021C= | CA2167784118 | TRPM1 | c.213+10G= (n.213+10G=) c.330+10G= (n.330+10G=) c.223G= (p.Ala75=) c.279+10G= (n.279+10G=) | |
15 | g.31070021C>G | CA391536824 | TRPM1 | c.213+10G>C (n.213+10G>C) c.330+10G>C (n.330+10G>C) c.223G>C (p.Ala75Pro) c.279+10G>C (n.279+10G>C) | |
15 | g.31070021C>T | CA391536827 | TRPM1 | c.213+10G>A (n.213+10G>A) c.330+10G>A (n.330+10G>A) c.223G>A (p.Ala75Thr) c.279+10G>A (n.279+10G>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070022C>A | CA391536829 | TRPM1 | c.213+9G>T (n.213+9G>T) c.330+9G>T (n.330+9G>T) c.222G>T (p.Lys74Asn) c.279+9G>T (n.279+9G>T) | |
15 | g.31070022C= | CA2167784119 | TRPM1 | c.213+9G= (n.213+9G=) c.330+9G= (n.330+9G=) c.222G= (p.Lys74=) c.279+9G= (n.279+9G=) | |
15 | g.31070022C>G | CA391536832 | TRPM1 | c.213+9G>C (n.213+9G>C) c.330+9G>C (n.330+9G>C) c.222G>C (p.Lys74Asn) c.279+9G>C (n.279+9G>C) | |
15 | g.31070022C>T | CA7453044 | TRPM1 | c.213+9G>A (n.213+9G>A) c.330+9G>A (n.330+9G>A) c.222G>A (p.Lys74=) c.279+9G>A (n.279+9G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070023T>A | CA391536836 | TRPM1 | c.213+8A>T (n.213+8A>T) c.330+8A>T (n.330+8A>T) c.221A>T (p.Lys74Met) c.279+8A>T (n.279+8A>T) | |
15 | g.31070023T>C | CA391536838 | TRPM1 | c.213+8A>G (n.213+8A>G) c.330+8A>G (n.330+8A>G) c.221A>G (p.Lys74Arg) c.279+8A>G (n.279+8A>G) | |
15 | g.31070023T>G | CA391536840 | TRPM1 | c.213+8A>C (n.213+8A>C) c.330+8A>C (n.330+8A>C) c.221A>C (p.Lys74Thr) c.279+8A>C (n.279+8A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070023T= | CA2167784120 | TRPM1 | c.213+8A= (n.213+8A=) c.330+8A= (n.330+8A=) c.221A= (p.Lys74=) c.279+8A= (n.279+8A=) | |
15 | g.31070024T>A | CA391536843 | TRPM1 | c.213+7A>T (n.213+7A>T) c.330+7A>T (n.330+7A>T) c.220A>T (p.Lys74Ter) c.279+7A>T (n.279+7A>T) | |
15 | g.31070024T>C | CA391536845 | TRPM1 | c.213+7A>G (n.213+7A>G) c.330+7A>G (n.330+7A>G) c.220A>G (p.Lys74Glu) c.279+7A>G (n.279+7A>G) | |
15 | g.31070024T>G | CA391536847 | TRPM1 | c.213+7A>C (n.213+7A>C) c.330+7A>C (n.330+7A>C) c.220A>C (p.Lys74Gln) c.279+7A>C (n.279+7A>C) | |
15 | g.31070025T>A | CA391536849 | TRPM1 | c.213+6A>T (n.213+6A>T) c.330+6A>T (n.330+6A>T) c.219A>T (p.Arg73Ser) c.279+6A>T (n.279+6A>T) | |
15 | g.31070025T>G | CA391536852 | TRPM1 | c.213+6A>C (n.213+6A>C) c.330+6A>C (n.330+6A>C) c.219A>C (p.Arg73Ser) c.279+6A>C (n.279+6A>C) | |
15 | g.31070026C>A | CA391536853 | TRPM1 | c.213+5G>T (n.213+5G>T) c.330+5G>T (n.330+5G>T) c.218G>T (p.Arg73Ile) c.279+5G>T (n.279+5G>T) | |
15 | g.31070026C>G | CA391536854 | TRPM1 | c.213+5G>C (n.213+5G>C) c.330+5G>C (n.330+5G>C) c.218G>C (p.Arg73Thr) c.279+5G>C (n.279+5G>C) | |
15 | g.31070026C>T | CA391536855 | TRPM1 | c.213+5G>A (n.213+5G>A) c.330+5G>A (n.330+5G>A) c.218G>A (p.Arg73Lys) c.279+5G>A (n.279+5G>A) | ClinVar |
15 | g.31070027T>A | CA391536856 | TRPM1 | c.213+4A>T (n.213+4A>T) c.330+4A>T (n.330+4A>T) c.217A>T (p.Arg73Ter) c.279+4A>T (n.279+4A>T) | |
15 | g.31070027T>C | CA391536857 | TRPM1 | c.213+4A>G (n.213+4A>G) c.330+4A>G (n.330+4A>G) c.217A>G (p.Arg73Gly) c.279+4A>G (n.279+4A>G) | |
15 | g.31070028C= | CA2167784121 | TRPM1 | c.213+3G= (n.213+3G=) c.330+3G= (n.330+3G=) c.216G= (p.Val72=) c.279+3G= (n.279+3G=) | |
15 | g.31070028C>T | CA267501949 | TRPM1 | c.213+3G>A (n.213+3G>A) c.330+3G>A (n.330+3G>A) c.216G>A (p.Val72=) c.279+3G>A (n.279+3G>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070029A>C | CA391536858 | TRPM1 | c.213+2T>G (n.213+2T>G) c.330+2T>G (n.330+2T>G) c.215T>G (p.Val72Gly) c.279+2T>G (n.279+2T>G) | gnomAD v4 |
15 | g.31070029A>G | CA391536859 | TRPM1 | c.213+2T>C (n.213+2T>C) c.330+2T>C (n.330+2T>C) c.215T>C (p.Val72Ala) c.279+2T>C (n.279+2T>C) | |
15 | g.31070029A>T | CA391536860 | TRPM1 | c.213+2T>A (n.213+2T>A) c.330+2T>A (n.330+2T>A) c.215T>A (p.Val72Glu) c.279+2T>A (n.279+2T>A) | |
15 | g.31070030C>A | CA391536861 | TRPM1 | c.213+1G>T (n.213+1G>T) c.330+1G>T (n.330+1G>T) c.214G>T (p.Val72Leu) c.279+1G>T (n.279+1G>T) | ClinVar dbSNP |
15 | g.31070030C>G | CA391536862 | TRPM1 | c.213+1G>C (n.213+1G>C) c.330+1G>C (n.330+1G>C) c.214G>C (p.Val72Leu) c.279+1G>C (n.279+1G>C) | |
15 | g.31070030C>T | CA391536863 | TRPM1 | c.213+1G>A (n.213+1G>A) c.330+1G>A (n.330+1G>A) c.214G>A (p.Val72Met) c.279+1G>A (n.279+1G>A) | |
15 | g.31070031C>A | CA391536868 | TRPM1 | c.213G>T (p.Met71Ile) c.330G>T (p.Met110Ile) c.279G>T (p.Met93Ile) | |
15 | g.31070031C>G | CA391536871 | TRPM1 | c.213G>C (p.Met71Ile) c.330G>C (p.Met110Ile) c.279G>C (p.Met93Ile) | |
15 | g.31070031C>T | CA391536866 | TRPM1 | c.213G>A (p.Met71Ile) c.330G>A (p.Met110Ile) c.279G>A (p.Met93Ile) | |
15 | g.31070032A= | CA2167784122 | TRPM1 | c.212T= (p.Met71=) c.329T= (p.Met110=) c.278T= (p.Met93=) | |
15 | g.31070032A>C | CA391536874 | TRPM1 | c.212T>G (p.Met71Arg) c.329T>G (p.Met110Arg) c.278T>G (p.Met93Arg) | |
15 | g.31070032A>G | CA391536877 | TRPM1 | c.212T>C (p.Met71Thr) c.329T>C (p.Met110Thr) c.278T>C (p.Met93Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.31070032A>T | CA391536878 | TRPM1 | c.212T>A (p.Met71Lys) c.329T>A (p.Met110Lys) c.278T>A (p.Met93Lys) | |
15 | g.31070033T>A | CA391536881 | TRPM1 | c.211A>T (p.Met71Leu) c.328A>T (p.Met110Leu) c.277A>T (p.Met93Leu) | |
15 | g.31070033T>C | CA7453045 | TRPM1 | c.211A>G (p.Met71Val) c.328A>G (p.Met110Val) c.277A>G (p.Met93Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070033T>G | CA391536884 | TRPM1 | c.211A>C (p.Met71Leu) c.328A>C (p.Met110Leu) c.277A>C (p.Met93Leu) | |
15 | g.31070033T= | CA2167784123 | TRPM1 | c.211A= (p.Met71=) c.328A= (p.Met110=) c.277A= (p.Met93=) | |
15 | g.31070034G>A | CA489644797 | TRPM1 | c.210C>T (p.Ala70=) c.327C>T (p.Ala109=) c.276C>T (p.Ala92=) | |
15 | g.31070034G>C | CA489644798 | TRPM1 | c.210C>G (p.Ala70=) c.327C>G (p.Ala109=) c.276C>G (p.Ala92=) | |
15 | g.31070034G>T | CA489644796 | TRPM1 | c.210C>A (p.Ala70=) c.327C>A (p.Ala109=) c.276C>A (p.Ala92=) | |
15 | g.31070035G>A | CA391536891 | TRPM1 | c.209C>T (p.Ala70Val) c.326C>T (p.Ala109Val) c.275C>T (p.Ala92Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070035G>C | CA391536887 | TRPM1 | c.209C>G (p.Ala70Gly) c.326C>G (p.Ala109Gly) c.275C>G (p.Ala92Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070035G= | CA2167784124 | TRPM1 | c.209C= (p.Ala70=) c.326C= (p.Ala109=) c.275C= (p.Ala92=) | |
15 | g.31070035G>T | CA391536889 | TRPM1 | c.209C>A (p.Ala70Asp) c.326C>A (p.Ala109Asp) c.275C>A (p.Ala92Asp) | |
15 | g.31070036C>A | CA391536894 | TRPM1 | c.208G>T (p.Ala70Ser) c.325G>T (p.Ala109Ser) c.274G>T (p.Ala92Ser) | |
15 | g.31070036C= | CA2167784125 | TRPM1 | c.208G= (p.Ala70=) c.325G= (p.Ala109=) c.274G= (p.Ala92=) | |
15 | g.31070036C>G | CA7453046 | TRPM1 | c.208G>C (p.Ala70Pro) c.325G>C (p.Ala109Pro) c.274G>C (p.Ala92Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070036C>T | CA391536898 | TRPM1 | c.208G>A (p.Ala70Thr) c.325G>A (p.Ala109Thr) c.274G>A (p.Ala92Thr) | |
15 | g.31070037T>A | CA391536900 | TRPM1 | c.207A>T (p.Lys69Asn) c.324A>T (p.Lys108Asn) c.273A>T (p.Lys91Asn) | |
15 | g.31070037T>C | CA489644799 | TRPM1 | c.207A>G (p.Lys69=) c.324A>G (p.Lys108=) c.273A>G (p.Lys91=) | |
15 | g.31070037T>G | CA391536903 | TRPM1 | c.207A>C (p.Lys69Asn) c.324A>C (p.Lys108Asn) c.273A>C (p.Lys91Asn) | |
15 | g.31070038T>A | CA391536906 | TRPM1 | c.206A>T (p.Lys69Ile) c.323A>T (p.Lys108Ile) c.272A>T (p.Lys91Ile) | |
15 | g.31070038T>C | CA391536909 | TRPM1 | c.206A>G (p.Lys69Arg) c.323A>G (p.Lys108Arg) c.272A>G (p.Lys91Arg) | |
15 | g.31070038T>G | CA391536908 | TRPM1 | c.206A>C (p.Lys69Thr) c.323A>C (p.Lys108Thr) c.272A>C (p.Lys91Thr) | |
15 | g.31070039T>A | CA391536910 | TRPM1 | c.205A>T (p.Lys69Ter) c.322A>T (p.Lys108Ter) c.271A>T (p.Lys91Ter) | |
15 | g.31070039T>C | CA391536911 | TRPM1 | c.205A>G (p.Lys69Glu) c.322A>G (p.Lys108Glu) c.271A>G (p.Lys91Glu) | |
15 | g.31070039T>G | CA391536912 | TRPM1 | c.205A>C (p.Lys69Gln) c.322A>C (p.Lys108Gln) c.271A>C (p.Lys91Gln) | |
15 | g.31070040A>C | CA391536913 | TRPM1 | c.204T>G (p.Asn68Lys) c.321T>G (p.Asn107Lys) c.270T>G (p.Asn90Lys) | |
15 | g.31070040A>G | CA489644800 | TRPM1 | c.204T>C (p.Asn68=) c.321T>C (p.Asn107=) c.270T>C (p.Asn90=) | |
15 | g.31070040A>T | CA391536914 | TRPM1 | c.204T>A (p.Asn68Lys) c.321T>A (p.Asn107Lys) c.270T>A (p.Asn90Lys) | |
15 | g.31070041T>A | CA391536915 | TRPM1 | c.203A>T (p.Asn68Ile) c.320A>T (p.Asn107Ile) c.269A>T (p.Asn90Ile) | |
15 | g.31070041T>C | CA391536916 | TRPM1 | c.203A>G (p.Asn68Ser) c.320A>G (p.Asn107Ser) c.269A>G (p.Asn90Ser) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070041T>G | CA391536917 | TRPM1 | c.203A>C (p.Asn68Thr) c.320A>C (p.Asn107Thr) c.269A>C (p.Asn90Thr) | |
15 | g.31070041T= | CA2167784126 | TRPM1 | c.203A= (p.Asn68=) c.320A= (p.Asn107=) c.269A= (p.Asn90=) | |
15 | g.31070042T>A | CA391536918 | TRPM1 | c.202A>T (p.Asn68Tyr) c.319A>T (p.Asn107Tyr) c.268A>T (p.Asn90Tyr) | |
15 | g.31070042T>C | CA391536919 | TRPM1 | c.202A>G (p.Asn68Asp) c.319A>G (p.Asn107Asp) c.268A>G (p.Asn90Asp) | |
15 | g.31070042T>G | CA391536920 | TRPM1 | c.202A>C (p.Asn68His) c.319A>C (p.Asn107His) c.268A>C (p.Asn90His) | |
15 | g.31070043G>A | CA489644801 | TRPM1 | c.201C>T (p.Ser67=) c.318C>T (p.Ser106=) c.267C>T (p.Ser89=) | gnomAD v4 |
15 | g.31070043G>C | CA489644802 | TRPM1 | c.201C>G (p.Ser67=) c.318C>G (p.Ser106=) c.267C>G (p.Ser89=) | |
15 | g.31070043G>T | CA489644803 | TRPM1 | c.201C>A (p.Ser67=) c.318C>A (p.Ser106=) c.267C>A (p.Ser89=) | |
15 | g.31070044G>A | CA391536923 | TRPM1 | c.200C>T (p.Ser67Phe) c.317C>T (p.Ser106Phe) c.266C>T (p.Ser89Phe) | ClinVar dbSNP |
15 | g.31070044G>C | CA391536922 | TRPM1 | c.200C>G (p.Ser67Cys) c.317C>G (p.Ser106Cys) c.266C>G (p.Ser89Cys) | |
15 | g.31070044G= | CA2167784127 | TRPM1 | c.200C= (p.Ser67=) c.317C= (p.Ser106=) c.266C= (p.Ser89=) | |
15 | g.31070044G>T | CA391536921 | TRPM1 | c.200C>A (p.Ser67Tyr) c.317C>A (p.Ser106Tyr) c.266C>A (p.Ser89Tyr) | |
15 | g.31070045A>C | CA391536924 | TRPM1 | c.199T>G (p.Ser67Ala) c.316T>G (p.Ser106Ala) c.265T>G (p.Ser89Ala) | |
15 | g.31070045A>G | CA391536926 | TRPM1 | c.199T>C (p.Ser67Pro) c.316T>C (p.Ser106Pro) c.265T>C (p.Ser89Pro) | |
15 | g.31070045A>T | CA391536925 | TRPM1 | c.199T>A (p.Ser67Thr) c.316T>A (p.Ser106Thr) c.265T>A (p.Ser89Thr) | |
15 | g.31070046A>C | CA391536927 | TRPM1 | c.198T>G (p.Tyr66Ter) c.315T>G (p.Tyr105Ter) c.264T>G (p.Tyr88Ter) | |
15 | g.31070046A>G | CA489644804 | TRPM1 | c.198T>C (p.Tyr66=) c.315T>C (p.Tyr105=) c.264T>C (p.Tyr88=) | |
15 | g.31070046A>T | CA391536928 | TRPM1 | c.198T>A (p.Tyr66Ter) c.315T>A (p.Tyr105Ter) c.264T>A (p.Tyr88Ter) | |
15 | g.31070047T>A | CA391536929 | TRPM1 | c.197A>T (p.Tyr66Phe) c.314A>T (p.Tyr105Phe) c.263A>T (p.Tyr88Phe) | |
15 | g.31070047T>C | CA391536930 | TRPM1 | c.197A>G (p.Tyr66Cys) c.314A>G (p.Tyr105Cys) c.263A>G (p.Tyr88Cys) | |
15 | g.31070047T>G | CA391536931 | TRPM1 | c.197A>C (p.Tyr66Ser) c.314A>C (p.Tyr105Ser) c.263A>C (p.Tyr88Ser) | |
15 | g.31070048A= | CA2167784128 | TRPM1 | c.196T= (p.Tyr66=) c.313T= (p.Tyr105=) c.262T= (p.Tyr88=) | |
15 | g.31070048A>C | CA391536932 | TRPM1 | c.196T>G (p.Tyr66Asp) c.313T>G (p.Tyr105Asp) c.262T>G (p.Tyr88Asp) | |
15 | g.31070048A>G | CA391536933 | TRPM1 | c.196T>C (p.Tyr66His) c.313T>C (p.Tyr105His) c.262T>C (p.Tyr88His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070048A>T | CA391536934 | TRPM1 | c.196T>A (p.Tyr66Asn) c.313T>A (p.Tyr105Asn) c.262T>A (p.Tyr88Asn) | |
15 | g.31070049T>A | CA489644805 | TRPM1 | c.195A>T (p.Gly65=) c.312A>T (p.Gly104=) c.261A>T (p.Gly87=) | |
15 | g.31070049T>C | CA489644806 | TRPM1 | c.195A>G (p.Gly65=) c.312A>G (p.Gly104=) c.261A>G (p.Gly87=) | |
15 | g.31070049T>G | CA489644807 | TRPM1 | c.195A>C (p.Gly65=) c.312A>C (p.Gly104=) c.261A>C (p.Gly87=) | |
15 | g.31070050C>A | CA391536935 | TRPM1 | c.194G>T (p.Gly65Val) c.311G>T (p.Gly104Val) c.260G>T (p.Gly87Val) | |
15 | g.31070050C>G | CA391536936 | TRPM1 | c.194G>C (p.Gly65Ala) c.311G>C (p.Gly104Ala) c.260G>C (p.Gly87Ala) | |
15 | g.31070050C>T | CA391536937 | TRPM1 | c.194G>A (p.Gly65Glu) c.311G>A (p.Gly104Glu) c.260G>A (p.Gly87Glu) | |
15 | g.31070051C>A | CA391536939 | TRPM1 | c.193G>T (p.Gly65Ter) c.310G>T (p.Gly104Ter) c.259G>T (p.Gly87Ter) | |
15 | g.31070051C= | CA2167784129 | TRPM1 | c.193G= (p.Gly65=) c.310G= (p.Gly104=) c.259G= (p.Gly87=) | |
15 | g.31070051C>G | CA391536938 | TRPM1 | c.193G>C (p.Gly65Arg) c.310G>C (p.Gly104Arg) c.259G>C (p.Gly87Arg) | |
15 | g.31070051C>T | CA7453047 | TRPM1 | c.193G>A (p.Gly65Arg) c.310G>A (p.Gly104Arg) c.259G>A (p.Gly87Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.31070052G>A | CA7453048 | TRPM1 | c.192C>T (p.Gly64=) c.309C>T (p.Gly103=) c.258C>T (p.Gly86=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.31070052G>C | CA489644808 | TRPM1 | c.192C>G (p.Gly64=) c.309C>G (p.Gly103=) c.258C>G (p.Gly86=) | |
15 | g.31070052G= | CA2167784130 | TRPM1 | c.192C= (p.Gly64=) c.309C= (p.Gly103=) c.258C= (p.Gly86=) | |
15 | g.31070052G>T | CA489644809 | TRPM1 | c.192C>A (p.Gly64=) c.309C>A (p.Gly103=) c.258C>A (p.Gly86=) | |
15 | g.31070053C>A | CA391536940 | TRPM1 | c.191G>T (p.Gly64Val) c.308G>T (p.Gly103Val) c.257G>T (p.Gly86Val) | |
15 | g.31070053C= | CA2167784131 | TRPM1 | c.191G= (p.Gly64=) c.308G= (p.Gly103=) c.257G= (p.Gly86=) | |
15 | g.31070053C>G | CA391536941 | TRPM1 | c.191G>C (p.Gly64Ala) c.308G>C (p.Gly103Ala) c.257G>C (p.Gly86Ala) | |
15 | g.31070053C>T | CA7453049 | TRPM1 | c.191G>A (p.Gly64Asp) c.308G>A (p.Gly103Asp) c.257G>A (p.Gly86Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070054C>A | CA391536942 | TRPM1 | c.190G>T (p.Gly64Cys) c.307G>T (p.Gly103Cys) c.256G>T (p.Gly86Cys) | COSMIC |
15 | g.31070054C= | CA2167784132 | TRPM1 | c.190G= (p.Gly64=) c.307G= (p.Gly103=) c.256G= (p.Gly86=) | |
15 | g.31070054C>G | CA391536943 | TRPM1 | c.190G>C (p.Gly64Arg) c.307G>C (p.Gly103Arg) c.256G>C (p.Gly86Arg) | |
15 | g.31070054C>T | CA391536944 | TRPM1 | c.190G>A (p.Gly64Ser) c.307G>A (p.Gly103Ser) c.256G>A (p.Gly86Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070055A= | CA2167784133 | TRPM1 | c.189T= (p.Gly63=) c.306T= (p.Gly102=) c.255T= (p.Gly85=) | |
15 | g.31070055A>C | CA489644811 | TRPM1 | c.189T>G (p.Gly63=) c.306T>G (p.Gly102=) c.255T>G (p.Gly85=) | |
15 | g.31070055A>G | CA489644810 | TRPM1 | c.189T>C (p.Gly63=) c.306T>C (p.Gly102=) c.255T>C (p.Gly85=) | |
15 | g.31070055A>T | CA7453050 | TRPM1 | c.189T>A (p.Gly63=) c.306T>A (p.Gly102=) c.255T>A (p.Gly85=) | dbSNP ExAC gnomAD v2 |
15 | g.31070055_31070056delinsAC | CA2167784134 | TRPM1 | c.188_189delinsGT (p.Gly63=) c.305_306delinsGT (p.Gly102=) c.254_255delinsGT (p.Gly85=) | |
15 | g.31070056C>A | CA391536945 | TRPM1 | c.188G>T (p.Gly63Val) c.305G>T (p.Gly102Val) c.254G>T (p.Gly85Val) | |
15 | g.31070056C>G | CA391536946 | TRPM1 | c.188G>C (p.Gly63Ala) c.305G>C (p.Gly102Ala) c.254G>C (p.Gly85Ala) | |
15 | g.31070056C>T | CA391536947 | TRPM1 | c.188G>A (p.Gly63Asp) c.305G>A (p.Gly102Asp) c.254G>A (p.Gly85Asp) | |
15 | g.31070058del | CA913190920 | TRPM1 | c.188del (p.Gly63ValfsTer27) c.305del (p.Gly102ValfsTer27) c.188del (p.Gly63ValfsTer10) c.254del (p.Gly85ValfsTer27) | ClinVar dbSNP |
15 | g.31070057C>A | CA391536949 | TRPM1 | c.187G>T (p.Gly63Cys) c.304G>T (p.Gly102Cys) c.253G>T (p.Gly85Cys) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070057C= | CA2167784135 | TRPM1 | c.187G= (p.Gly63=) c.304G= (p.Gly102=) c.253G= (p.Gly85=) | |
15 | g.31070057C>G | CA7453051 | TRPM1 | c.187G>C (p.Gly63Arg) c.304G>C (p.Gly102Arg) c.253G>C (p.Gly85Arg) | dbSNP ExAC gnomAD v4 |
15 | g.31070057C>T | CA391536948 | TRPM1 | c.187G>A (p.Gly63Ser) c.304G>A (p.Gly102Ser) c.253G>A (p.Gly85Ser) | gnomAD v4 |
15 | g.31070058C>A | CA391536950 | TRPM1 | c.186G>T (p.Gln62His) c.303G>T (p.Gln101His) c.252G>T (p.Gln84His) | gnomAD v4 |
15 | g.31070058C>G | CA391536951 | TRPM1 | c.186G>C (p.Gln62His) c.303G>C (p.Gln101His) c.252G>C (p.Gln84His) | ClinVar gnomAD v4 |
15 | g.31070058C>T | CA489644812 | TRPM1 | c.186G>A (p.Gln62=) c.303G>A (p.Gln101=) c.252G>A (p.Gln84=) | |
15 | g.31070059T>A | CA391536952 | TRPM1 | c.185A>T (p.Gln62Leu) c.302A>T (p.Gln101Leu) c.251A>T (p.Gln84Leu) | |
15 | g.31070059T>C | CA391536953 | TRPM1 | c.185A>G (p.Gln62Arg) c.302A>G (p.Gln101Arg) c.251A>G (p.Gln84Arg) | |
15 | g.31070059T>G | CA7453052 | TRPM1 | c.185A>C (p.Gln62Pro) c.302A>C (p.Gln101Pro) c.251A>C (p.Gln84Pro) | dbSNP ExAC gnomAD v2 |
15 | g.31070059T= | CA2167784136 | TRPM1 | c.185A= (p.Gln62=) c.302A= (p.Gln101=) c.251A= (p.Gln84=) | |
15 | g.31070060G>A | CA391536954 | TRPM1 | c.184C>T (p.Gln62Ter) c.301C>T (p.Gln101Ter) c.250C>T (p.Gln84Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.31070060G>C | CA391536955 | TRPM1 | c.184C>G (p.Gln62Glu) c.301C>G (p.Gln101Glu) c.250C>G (p.Gln84Glu) | |
15 | g.31070060G= | CA2167784137 | TRPM1 | c.184C= (p.Gln62=) c.301C= (p.Gln101=) c.250C= (p.Gln84=) | |
15 | g.31070060G>T | CA391536956 | TRPM1 | c.184C>A (p.Gln62Lys) c.301C>A (p.Gln101Lys) c.250C>A (p.Gln84Lys) | |
15 | g.31070061G>A | CA489644813 | TRPM1 | c.183C>T (p.Phe61=) c.300C>T (p.Phe100=) c.249C>T (p.Phe83=) | COSMIC COSMIC |
15 | g.31070061G>C | CA391536957 | TRPM1 | c.183C>G (p.Phe61Leu) c.300C>G (p.Phe100Leu) c.249C>G (p.Phe83Leu) | |
15 | g.31070061G>T | CA391536958 | TRPM1 | c.183C>A (p.Phe61Leu) c.300C>A (p.Phe100Leu) c.249C>A (p.Phe83Leu) | |
15 | g.31070062A>C | CA391536959 | TRPM1 | c.182T>G (p.Phe61Cys) c.299T>G (p.Phe100Cys) c.248T>G (p.Phe83Cys) | |
15 | g.31070062A>G | CA391536960 | TRPM1 | c.182T>C (p.Phe61Ser) c.299T>C (p.Phe100Ser) c.248T>C (p.Phe83Ser) | COSMIC COSMIC |
15 | g.31070062A>T | CA391536961 | TRPM1 | c.182T>A (p.Phe61Tyr) c.299T>A (p.Phe100Tyr) c.248T>A (p.Phe83Tyr) | |
15 | g.31070063A>C | CA391536968 | TRPM1 | c.181T>G (p.Phe61Val) c.298T>G (p.Phe100Val) c.247T>G (p.Phe83Val) | |
15 | g.31070063A>G | CA391536966 | TRPM1 | c.181T>C (p.Phe61Leu) c.298T>C (p.Phe100Leu) c.247T>C (p.Phe83Leu) | |
15 | g.31070063A>T | CA391536964 | TRPM1 | c.181T>A (p.Phe61Ile) c.298T>A (p.Phe100Ile) c.247T>A (p.Phe83Ile) | |
15 | g.31070064T>A | CA391536969 | TRPM1 | c.180A>T (p.Glu60Asp) c.297A>T (p.Glu99Asp) c.246A>T (p.Glu82Asp) | |
15 | g.31070064T>C | CA489644814 | TRPM1 | c.180A>G (p.Glu60=) c.297A>G (p.Glu99=) c.246A>G (p.Glu82=) | dbSNP |
15 | g.31070064T>G | CA391536971 | TRPM1 | c.180A>C (p.Glu60Asp) c.297A>C (p.Glu99Asp) c.246A>C (p.Glu82Asp) | |
15 | g.31070064T= | CA2167784138 | TRPM1 | c.180A= (p.Glu60=) c.297A= (p.Glu99=) c.246A= (p.Glu82=) | |
15 | g.31070065T>A | CA391536974 | TRPM1 | c.179A>T (p.Glu60Val) c.296A>T (p.Glu99Val) c.245A>T (p.Glu82Val) | |
15 | g.31070065T>C | CA391536975 | TRPM1 | c.179A>G (p.Glu60Gly) c.296A>G (p.Glu99Gly) c.245A>G (p.Glu82Gly) | |
15 | g.31070065T>G | CA391536977 | TRPM1 | c.179A>C (p.Glu60Ala) c.296A>C (p.Glu99Ala) c.245A>C (p.Glu82Ala) | |
15 | g.31070066C>A | CA391536979 | TRPM1 | c.178G>T (p.Glu60Ter) c.295G>T (p.Glu99Ter) c.244G>T (p.Glu82Ter) | |
15 | g.31070066C>G | CA391536981 | TRPM1 | c.178G>C (p.Glu60Gln) c.295G>C (p.Glu99Gln) c.244G>C (p.Glu82Gln) | |
15 | g.31070066C>T | CA391536982 | TRPM1 | c.178G>A (p.Glu60Lys) c.295G>A (p.Glu99Lys) c.244G>A (p.Glu82Lys) | gnomAD v4 |
15 | g.31070067A>C | CA489644815 | TRPM1 | c.177T>G (p.Leu59=) c.294T>G (p.Leu98=) c.243T>G (p.Leu81=) | |
15 | g.31070067A>G | CA489644817 | TRPM1 | c.177T>C (p.Leu59=) c.294T>C (p.Leu98=) c.243T>C (p.Leu81=) | |
15 | g.31070067A>T | CA489644816 | TRPM1 | c.177T>A (p.Leu59=) c.294T>A (p.Leu98=) c.243T>A (p.Leu81=) | |
15 | g.31070068A>C | CA391536985 | TRPM1 | c.176T>G (p.Leu59Arg) c.293T>G (p.Leu98Arg) c.242T>G (p.Leu81Arg) | |
15 | g.31070068A>G | CA391536987 | TRPM1 | c.176T>C (p.Leu59Pro) c.293T>C (p.Leu98Pro) c.242T>C (p.Leu81Pro) | gnomAD v4 |
15 | g.31070068A>T | CA391536988 | TRPM1 | c.176T>A (p.Leu59His) c.293T>A (p.Leu98His) c.242T>A (p.Leu81His) | |
15 | g.31070069G>A | CA391536991 | TRPM1 | c.175C>T (p.Leu59Phe) c.292C>T (p.Leu98Phe) c.241C>T (p.Leu81Phe) | |
15 | g.31070069G>C | CA391536992 | TRPM1 | c.175C>G (p.Leu59Val) c.292C>G (p.Leu98Val) c.241C>G (p.Leu81Val) | |
15 | g.31070069G>T | CA391536994 | TRPM1 | c.175C>A (p.Leu59Ile) c.292C>A (p.Leu98Ile) c.241C>A (p.Leu81Ile) | COSMIC |
15 | g.31070070A= | CA2167784139 | TRPM1 | c.174T= (p.Val58=) c.291T= (p.Val97=) c.240T= (p.Val80=) | |
15 | g.31070070A>C | CA7453053 | TRPM1 | c.174T>G (p.Val58=) c.291T>G (p.Val97=) c.240T>G (p.Val80=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070070A>G | CA489644818 | TRPM1 | c.174T>C (p.Val58=) c.291T>C (p.Val97=) c.240T>C (p.Val80=) | |
15 | g.31070070A>T | CA489644819 | TRPM1 | c.174T>A (p.Val58=) c.291T>A (p.Val97=) c.240T>A (p.Val80=) | |
15 | g.31070071A= | CA2167784140 | TRPM1 | c.173T= (p.Val58=) c.290T= (p.Val97=) c.239T= (p.Val80=) | |
15 | g.31070071A>C | CA391537000 | TRPM1 | c.173T>G (p.Val58Gly) c.290T>G (p.Val97Gly) c.239T>G (p.Val80Gly) | |
15 | g.31070071A>G | CA391536998 | TRPM1 | c.173T>C (p.Val58Ala) c.290T>C (p.Val97Ala) c.239T>C (p.Val80Ala) | ClinVar dbSNP gnomAD v4 |
15 | g.31070071A>T | CA391537002 | TRPM1 | c.173T>A (p.Val58Asp) c.290T>A (p.Val97Asp) c.239T>A (p.Val80Asp) | |
15 | g.31070072C>A | CA391537004 | TRPM1 | c.172G>T (p.Val58Phe) c.289G>T (p.Val97Phe) c.238G>T (p.Val80Phe) | |
15 | g.31070072C= | CA2167784141 | TRPM1 | c.172G= (p.Val58=) c.289G= (p.Val97=) c.238G= (p.Val80=) | |
15 | g.31070072C>G | CA391537008 | TRPM1 | c.172G>C (p.Val58Leu) c.289G>C (p.Val97Leu) c.238G>C (p.Val80Leu) | |
15 | g.31070072C>T | CA391537006 | TRPM1 | c.172G>A (p.Val58Ile) c.289G>A (p.Val97Ile) c.238G>A (p.Val80Ile) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070073T>A | CA489644822 | TRPM1 | c.171A>T (p.Gly57=) c.288A>T (p.Gly96=) c.237A>T (p.Gly79=) | |
15 | g.31070073T>C | CA489644821 | TRPM1 | c.171A>G (p.Gly57=) c.288A>G (p.Gly96=) c.237A>G (p.Gly79=) | |
15 | g.31070073T>G | CA489644820 | TRPM1 | c.171A>C (p.Gly57=) c.288A>C (p.Gly96=) c.237A>C (p.Gly79=) | |
15 | g.31070074C>A | CA391537010 | TRPM1 | c.170G>T (p.Gly57Val) c.287G>T (p.Gly96Val) c.236G>T (p.Gly79Val) | |
15 | g.31070074C>G | CA391537012 | TRPM1 | c.170G>C (p.Gly57Ala) c.287G>C (p.Gly96Ala) c.236G>C (p.Gly79Ala) | |
15 | g.31070074C>T | CA391537013 | TRPM1 | c.170G>A (p.Gly57Glu) c.287G>A (p.Gly96Glu) c.236G>A (p.Gly79Glu) | |
15 | g.31070075C>A | CA391537014 | TRPM1 | c.169G>T (p.Gly57Ter) c.286G>T (p.Gly96Ter) c.235G>T (p.Gly79Ter) | |
15 | g.31070075C= | CA2167784142 | TRPM1 | c.169G= (p.Gly57=) c.286G= (p.Gly96=) c.235G= (p.Gly79=) | |
15 | g.31070075C>G | CA391537015 | TRPM1 | c.169G>C (p.Gly57Arg) c.286G>C (p.Gly96Arg) c.235G>C (p.Gly79Arg) | |
15 | g.31070075C>T | CA391537016 | TRPM1 | c.169G>A (p.Gly57Arg) c.286G>A (p.Gly96Arg) c.235G>A (p.Gly79Arg) | dbSNP |
15 | g.31070076A= | CA2167784143 | TRPM1 | c.168T= (p.Tyr56=) c.285T= (p.Tyr95=) c.234T= (p.Tyr78=) | |
15 | g.31070076A>C | CA391537018 | TRPM1 | c.168T>G (p.Tyr56Ter) c.285T>G (p.Tyr95Ter) c.234T>G (p.Tyr78Ter) | |
15 | g.31070076A>G | CA202316 | TRPM1 | c.168T>C (p.Tyr56=) c.285T>C (p.Tyr95=) c.234T>C (p.Tyr78=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070076A>T | CA391537021 | TRPM1 | c.168T>A (p.Tyr56Ter) c.285T>A (p.Tyr95Ter) c.234T>A (p.Tyr78Ter) | |
15 | g.31070077T>A | CA391537023 | TRPM1 | c.167A>T (p.Tyr56Phe) c.284A>T (p.Tyr95Phe) c.233A>T (p.Tyr78Phe) | |
15 | g.31070077T>C | CA391537025 | TRPM1 | c.167A>G (p.Tyr56Cys) c.284A>G (p.Tyr95Cys) c.233A>G (p.Tyr78Cys) | ClinVar dbSNP gnomAD v4 |
15 | g.31070077T>G | CA391537027 | TRPM1 | c.167A>C (p.Tyr56Ser) c.284A>C (p.Tyr95Ser) c.233A>C (p.Tyr78Ser) | |
15 | g.31070077T= | CA2167784144 | TRPM1 | c.167A= (p.Tyr56=) c.284A= (p.Tyr95=) c.233A= (p.Tyr78=) | |
15 | g.31070078A= | CA2167784145 | TRPM1 | c.166T= (p.Tyr56=) c.283T= (p.Tyr95=) c.232T= (p.Tyr78=) | |
15 | g.31070078A>C | CA391537029 | TRPM1 | c.166T>G (p.Tyr56Asp) c.283T>G (p.Tyr95Asp) c.232T>G (p.Tyr78Asp) | |
15 | g.31070078A>G | CA391537032 | TRPM1 | c.166T>C (p.Tyr56His) c.283T>C (p.Tyr95His) c.232T>C (p.Tyr78His) | dbSNP |
15 | g.31070078A>T | CA391537030 | TRPM1 | c.166T>A (p.Tyr56Asn) c.283T>A (p.Tyr95Asn) c.232T>A (p.Tyr78Asn) | |
15 | g.31070079G>A | CA267502003 | TRPM1 | c.165C>T (p.Ser55=) c.282C>T (p.Ser94=) c.231C>T (p.Ser77=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070079G>C | CA489644823 | TRPM1 | c.165C>G (p.Ser55=) c.282C>G (p.Ser94=) c.231C>G (p.Ser77=) | |
15 | g.31070079G= | CA2167784146 | TRPM1 | c.165C= (p.Ser55=) c.282C= (p.Ser94=) c.231C= (p.Ser77=) | |
15 | g.31070079G>T | CA489644824 | TRPM1 | c.165C>A (p.Ser55=) c.282C>A (p.Ser94=) c.231C>A (p.Ser77=) | |
15 | g.31070080G>A | CA391537035 | TRPM1 | c.164C>T (p.Ser55Phe) c.281C>T (p.Ser94Phe) c.230C>T (p.Ser77Phe) | ClinVar dbSNP |
15 | g.31070080G>C | CA391537037 | TRPM1 | c.164C>G (p.Ser55Cys) c.281C>G (p.Ser94Cys) c.230C>G (p.Ser77Cys) | |
15 | g.31070080G>T | CA391537039 | TRPM1 | c.164C>A (p.Ser55Tyr) c.281C>A (p.Ser94Tyr) c.230C>A (p.Ser77Tyr) | |
15 | g.31070081A>C | CA391537042 | TRPM1 | c.163T>G (p.Ser55Ala) c.280T>G (p.Ser94Ala) c.229T>G (p.Ser77Ala) | |
15 | g.31070081A>G | CA391537043 | TRPM1 | c.163T>C (p.Ser55Pro) c.280T>C (p.Ser94Pro) c.229T>C (p.Ser77Pro) | |
15 | g.31070081A>T | CA391537045 | TRPM1 | c.163T>A (p.Ser55Thr) c.280T>A (p.Ser94Thr) c.229T>A (p.Ser77Thr) | |
15 | g.31070082A>C | CA391537047 | TRPM1 | c.162T>G (p.Asp54Glu) c.279T>G (p.Asp93Glu) c.228T>G (p.Asp76Glu) | |
15 | g.31070082A>G | CA489644825 | TRPM1 | c.162T>C (p.Asp54=) c.279T>C (p.Asp93=) c.228T>C (p.Asp76=) | |
15 | g.31070082A>T | CA391537049 | TRPM1 | c.162T>A (p.Asp54Glu) c.279T>A (p.Asp93Glu) c.228T>A (p.Asp76Glu) | |
15 | g.31070083T>A | CA391537053 | TRPM1 | c.161A>T (p.Asp54Val) c.278A>T (p.Asp93Val) c.227A>T (p.Asp76Val) | |
15 | g.31070083T>C | CA391537055 | TRPM1 | c.161A>G (p.Asp54Gly) c.278A>G (p.Asp93Gly) c.227A>G (p.Asp76Gly) | |
15 | g.31070083T>G | CA391537051 | TRPM1 | c.161A>C (p.Asp54Ala) c.278A>C (p.Asp93Ala) c.227A>C (p.Asp76Ala) | |
15 | g.31070084C>A | CA391537058 | TRPM1 | c.160G>T (p.Asp54Tyr) c.277G>T (p.Asp93Tyr) c.226G>T (p.Asp76Tyr) | |
15 | g.31070084C>G | CA391537059 | TRPM1 | c.160G>C (p.Asp54His) c.277G>C (p.Asp93His) c.226G>C (p.Asp76His) | |
15 | g.31070084C>T | CA391537061 | TRPM1 | c.160G>A (p.Asp54Asn) c.277G>A (p.Asp93Asn) c.226G>A (p.Asp76Asn) | COSMIC COSMIC |
15 | g.31070085T>A | CA489644828 | TRPM1 | c.159A>T (p.Thr53=) c.276A>T (p.Thr92=) c.225A>T (p.Thr75=) | |
15 | g.31070085T>C | CA489644827 | TRPM1 | c.159A>G (p.Thr53=) c.276A>G (p.Thr92=) c.225A>G (p.Thr75=) | |
15 | g.31070085T>G | CA489644826 | TRPM1 | c.159A>C (p.Thr53=) c.276A>C (p.Thr92=) c.225A>C (p.Thr75=) | |
15 | g.31070086G>A | CA391537064 | TRPM1 | c.158C>T (p.Thr53Ile) c.275C>T (p.Thr92Ile) c.224C>T (p.Thr75Ile) | |
15 | g.31070086G>C | CA391537065 | TRPM1 | c.158C>G (p.Thr53Arg) c.275C>G (p.Thr92Arg) c.224C>G (p.Thr75Arg) | |
15 | g.31070086G>T | CA391537067 | TRPM1 | c.158C>A (p.Thr53Lys) c.275C>A (p.Thr92Lys) c.224C>A (p.Thr75Lys) | |
15 | g.31070087T>A | CA391537070 | TRPM1 | c.157A>T (p.Thr53Ser) c.274A>T (p.Thr92Ser) c.223A>T (p.Thr75Ser) | gnomAD v4 |
15 | g.31070087T>C | CA391537071 | TRPM1 | c.157A>G (p.Thr53Ala) c.274A>G (p.Thr92Ala) c.223A>G (p.Thr75Ala) | dbSNP gnomAD v4 |
15 | g.31070087T>G | CA391537073 | TRPM1 | c.157A>C (p.Thr53Pro) c.274A>C (p.Thr92Pro) c.223A>C (p.Thr75Pro) | |
15 | g.31070087T= | CA2167784147 | TRPM1 | c.157A= (p.Thr53=) c.274A= (p.Thr92=) c.223A= (p.Thr75=) | |
15 | g.31070088T>A | CA489644829 | TRPM1 | c.156A>T (p.Pro52=) c.273A>T (p.Pro91=) c.222A>T (p.Pro74=) | |
15 | g.31070088T>C | CA489644831 | TRPM1 | c.156A>G (p.Pro52=) c.273A>G (p.Pro91=) c.222A>G (p.Pro74=) | |
15 | g.31070088T>G | CA489644830 | TRPM1 | c.156A>C (p.Pro52=) c.273A>C (p.Pro91=) c.222A>C (p.Pro74=) | |
15 | g.31070089G>A | CA7453054 | TRPM1 | c.155C>T (p.Pro52Leu) c.272C>T (p.Pro91Leu) c.221C>T (p.Pro74Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.31070089G>C | CA391537077 | TRPM1 | c.155C>G (p.Pro52Arg) c.272C>G (p.Pro91Arg) c.221C>G (p.Pro74Arg) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070089G= | CA2167784148 | TRPM1 | c.155C= (p.Pro52=) c.272C= (p.Pro91=) c.221C= (p.Pro74=) | |
15 | g.31070089G>T | CA391537079 | TRPM1 | c.155C>A (p.Pro52Gln) c.272C>A (p.Pro91Gln) c.221C>A (p.Pro74Gln) | |
15 | g.31070090G>A | CA7453055 | TRPM1 | c.154C>T (p.Pro52Ser) c.271C>T (p.Pro91Ser) c.220C>T (p.Pro74Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070090G>C | CA391537081 | TRPM1 | c.154C>G (p.Pro52Ala) c.271C>G (p.Pro91Ala) c.220C>G (p.Pro74Ala) | |
15 | g.31070090G= | CA2167784149 | TRPM1 | c.154C= (p.Pro52=) c.271C= (p.Pro91=) c.220C= (p.Pro74=) | |
15 | g.31070090G>T | CA7453056 | TRPM1 | c.154C>A (p.Pro52Thr) c.271C>A (p.Pro91Thr) c.220C>A (p.Pro74Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070091G>A | CA489644867 | TRPM1 | c.153C>T (p.Tyr51=) c.270C>T (p.Tyr90=) c.219C>T (p.Tyr73=) | |
15 | g.31070091G>C | CA391537085 | TRPM1 | c.153C>G (p.Tyr51Ter) c.270C>G (p.Tyr90Ter) c.219C>G (p.Tyr73Ter) | |
15 | g.31070091G>T | CA391537086 | TRPM1 | c.153C>A (p.Tyr51Ter) c.270C>A (p.Tyr90Ter) c.219C>A (p.Tyr73Ter) | |
15 | g.31070092T>A | CA391537088 | TRPM1 | c.152A>T (p.Tyr51Phe) c.269A>T (p.Tyr90Phe) c.218A>T (p.Tyr73Phe) | |
15 | g.31070092T>C | CA391537090 | TRPM1 | c.152A>G (p.Tyr51Cys) c.269A>G (p.Tyr90Cys) c.218A>G (p.Tyr73Cys) | |
15 | g.31070092T>G | CA391537092 | TRPM1 | c.152A>C (p.Tyr51Ser) c.269A>C (p.Tyr90Ser) c.218A>C (p.Tyr73Ser) | |
15 | g.31070093A= | CA2167784150 | TRPM1 | c.151T= (p.Tyr51=) c.268T= (p.Tyr90=) c.217T= (p.Tyr73=) | |
15 | g.31070093A>C | CA391537094 | TRPM1 | c.151T>G (p.Tyr51Asp) c.268T>G (p.Tyr90Asp) c.217T>G (p.Tyr73Asp) | |
15 | g.31070093A>G | CA391537096 | TRPM1 | c.151T>C (p.Tyr51His) c.268T>C (p.Tyr90His) c.217T>C (p.Tyr73His) | |
15 | g.31070093A>T | CA267502025 | TRPM1 | c.151T>A (p.Tyr51Asn) c.268T>A (p.Tyr90Asn) c.217T>A (p.Tyr73Asn) | dbSNP |
15 | g.31070094G>A | CA489644869 | TRPM1 | c.150C>T (p.Ser50=) c.267C>T (p.Ser89=) c.216C>T (p.Ser72=) | gnomAD v4 |
15 | g.31070094G>C | CA391537099 | TRPM1 | c.150C>G (p.Ser50Arg) c.267C>G (p.Ser89Arg) c.216C>G (p.Ser72Arg) | |
15 | g.31070094G>T | CA391537102 | TRPM1 | c.150C>A (p.Ser50Arg) c.267C>A (p.Ser89Arg) c.216C>A (p.Ser72Arg) | |
15 | g.31070095C>A | CA391537103 | TRPM1 | c.149G>T (p.Ser50Ile) c.266G>T (p.Ser89Ile) c.215G>T (p.Ser72Ile) | |
15 | g.31070095C>G | CA391537105 | TRPM1 | c.149G>C (p.Ser50Thr) c.266G>C (p.Ser89Thr) c.215G>C (p.Ser72Thr) | |
15 | g.31070095C>T | CA391537107 | TRPM1 | c.149G>A (p.Ser50Asn) c.266G>A (p.Ser89Asn) c.215G>A (p.Ser72Asn) | gnomAD v4 |
15 | g.31070096T>A | CA391537111 | TRPM1 | c.148A>T (p.Ser50Cys) c.265A>T (p.Ser89Cys) c.214A>T (p.Ser72Cys) | |
15 | g.31070096T>C | CA391537113 | TRPM1 | c.148A>G (p.Ser50Gly) c.265A>G (p.Ser89Gly) c.214A>G (p.Ser72Gly) | ClinVar dbSNP |
15 | g.31070096T>G | CA391537109 | TRPM1 | c.148A>C (p.Ser50Arg) c.265A>C (p.Ser89Arg) c.214A>C (p.Ser72Arg) | |
15 | g.31070097C>A | CA391537115 | TRPM1 | c.147G>T (p.Gln49His) c.264G>T (p.Gln88His) c.213G>T (p.Gln71His) | |
15 | g.31070097C= | CA2167784151 | TRPM1 | c.147G= (p.Gln49=) c.264G= (p.Gln88=) c.213G= (p.Gln71=) | |
15 | g.31070097C>G | CA391537117 | TRPM1 | c.147G>C (p.Gln49His) c.264G>C (p.Gln88His) c.213G>C (p.Gln71His) | |
15 | g.31070097C>T | CA489644870 | TRPM1 | c.147G>A (p.Gln49=) c.264G>A (p.Gln88=) c.213G>A (p.Gln71=) | dbSNP gnomAD v4 |
15 | g.31070098T>A | CA391537120 | TRPM1 | c.146A>T (p.Gln49Leu) c.263A>T (p.Gln88Leu) c.212A>T (p.Gln71Leu) | gnomAD v4 |
15 | g.31070098T>C | CA391537122 | TRPM1 | c.146A>G (p.Gln49Arg) c.263A>G (p.Gln88Arg) c.212A>G (p.Gln71Arg) | |
15 | g.31070098T>G | CA391537123 | TRPM1 | c.146A>C (p.Gln49Pro) c.263A>C (p.Gln88Pro) c.212A>C (p.Gln71Pro) | gnomAD v4 |
15 | g.31070099G>A | CA391537125 | TRPM1 | c.145C>T (p.Gln49Ter) c.262C>T (p.Gln88Ter) c.211C>T (p.Gln71Ter) | |
15 | g.31070099G>C | CA391537127 | TRPM1 | c.145C>G (p.Gln49Glu) c.262C>G (p.Gln88Glu) c.211C>G (p.Gln71Glu) | |
15 | g.31070099G>T | CA391537128 | TRPM1 | c.145C>A (p.Gln49Lys) c.262C>A (p.Gln88Lys) c.211C>A (p.Gln71Lys) | |
15 | g.31070100G>A | CA489644873 | TRPM1 | c.144C>T (p.Thr48=) c.261C>T (p.Thr87=) c.210C>T (p.Thr70=) | COSMIC COSMIC |
15 | g.31070100G>C | CA489644874 | TRPM1 | c.144C>G (p.Thr48=) c.261C>G (p.Thr87=) c.210C>G (p.Thr70=) | |
15 | g.31070100G>T | CA489644872 | TRPM1 | c.144C>A (p.Thr48=) c.261C>A (p.Thr87=) c.210C>A (p.Thr70=) | |
15 | g.31070101G>A | CA391537131 | TRPM1 | c.143C>T (p.Thr48Ile) c.260C>T (p.Thr87Ile) c.209C>T (p.Thr70Ile) | |
15 | g.31070101G>C | CA391537133 | TRPM1 | c.143C>G (p.Thr48Ser) c.260C>G (p.Thr87Ser) c.209C>G (p.Thr70Ser) | |
15 | g.31070101G= | CA2167784152 | TRPM1 | c.143C= (p.Thr48=) c.260C= (p.Thr87=) c.209C= (p.Thr70=) | |
15 | g.31070101G>T | CA391537134 | TRPM1 | c.143C>A (p.Thr48Asn) c.260C>A (p.Thr87Asn) c.209C>A (p.Thr70Asn) | dbSNP gnomAD v2 |
15 | g.31070102T>A | CA391537137 | TRPM1 | c.142A>T (p.Thr48Ser) c.259A>T (p.Thr87Ser) c.208A>T (p.Thr70Ser) | |
15 | g.31070102T>C | CA391537139 | TRPM1 | c.142A>G (p.Thr48Ala) c.259A>G (p.Thr87Ala) c.208A>G (p.Thr70Ala) | |
15 | g.31070102T>G | CA391537140 | TRPM1 | c.142A>C (p.Thr48Pro) c.259A>C (p.Thr87Pro) c.208A>C (p.Thr70Pro) | |
15 | g.31070103G>A | CA489644876 | TRPM1 | c.141C>T (p.His47=) c.258C>T (p.His86=) c.207C>T (p.His69=) | gnomAD v4 |
15 | g.31070103G>C | CA391537144 | TRPM1 | c.141C>G (p.His47Gln) c.258C>G (p.His86Gln) c.207C>G (p.His69Gln) | |
15 | g.31070103G>T | CA391537143 | TRPM1 | c.141C>A (p.His47Gln) c.258C>A (p.His86Gln) c.207C>A (p.His69Gln) | |
15 | g.31070104T>A | CA391537146 | TRPM1 | c.140A>T (p.His47Leu) c.257A>T (p.His86Leu) c.206A>T (p.His69Leu) | gnomAD v4 |
15 | g.31070104T>C | CA391537148 | TRPM1 | c.140A>G (p.His47Arg) c.257A>G (p.His86Arg) c.206A>G (p.His69Arg) | |
15 | g.31070104T>G | CA391537150 | TRPM1 | c.140A>C (p.His47Pro) c.257A>C (p.His86Pro) c.206A>C (p.His69Pro) | |
15 | g.31070105G>A | CA391537152 | TRPM1 | c.139C>T (p.His47Tyr) c.256C>T (p.His86Tyr) c.205C>T (p.His69Tyr) | |
15 | g.31070105G>C | CA391537153 | TRPM1 | c.139C>G (p.His47Asp) c.256C>G (p.His86Asp) c.205C>G (p.His69Asp) | |
15 | g.31070105G>T | CA391537155 | TRPM1 | c.139C>A (p.His47Asn) c.256C>A (p.His86Asn) c.205C>A (p.His69Asn) | |
15 | g.31070106C>A | CA391537159 | TRPM1 | c.138G>T (p.Lys46Asn) c.255G>T (p.Lys85Asn) c.204G>T (p.Lys68Asn) | |
15 | g.31070106C>G | CA391537157 | TRPM1 | c.138G>C (p.Lys46Asn) c.255G>C (p.Lys85Asn) c.204G>C (p.Lys68Asn) | |
15 | g.31070106C>T | CA489644878 | TRPM1 | c.138G>A (p.Lys46=) c.255G>A (p.Lys85=) c.204G>A (p.Lys68=) | |
15 | g.31070107T>A | CA391537161 | TRPM1 | c.137A>T (p.Lys46Met) c.254A>T (p.Lys85Met) c.203A>T (p.Lys68Met) | |
15 | g.31070107T>C | CA7453057 | TRPM1 | c.137A>G (p.Lys46Arg) c.254A>G (p.Lys85Arg) c.203A>G (p.Lys68Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070107T>G | CA391537163 | TRPM1 | c.137A>C (p.Lys46Thr) c.254A>C (p.Lys85Thr) c.203A>C (p.Lys68Thr) | |
15 | g.31070107T= | CA2167784153 | TRPM1 | c.137A= (p.Lys46=) c.254A= (p.Lys85=) c.203A= (p.Lys68=) | |
15 | g.31070108T>A | CA391537166 | TRPM1 | c.136A>T (p.Lys46Ter) c.253A>T (p.Lys85Ter) c.202A>T (p.Lys68Ter) | |
15 | g.31070108T>C | CA391537168 | TRPM1 | c.136A>G (p.Lys46Glu) c.253A>G (p.Lys85Glu) c.202A>G (p.Lys68Glu) | ClinVar gnomAD v4 |
15 | g.31070108T>G | CA391537170 | TRPM1 | c.136A>C (p.Lys46Gln) c.253A>C (p.Lys85Gln) c.202A>C (p.Lys68Gln) | |
15 | g.31070109G>A | CA489644881 | TRPM1 | c.135C>T (p.Ala45=) c.252C>T (p.Ala84=) c.201C>T (p.Ala67=) | |
15 | g.31070109G>C | CA489644879 | TRPM1 | c.135C>G (p.Ala45=) c.252C>G (p.Ala84=) c.201C>G (p.Ala67=) | |
15 | g.31070109G>T | CA489644880 | TRPM1 | c.135C>A (p.Ala45=) c.252C>A (p.Ala84=) c.201C>A (p.Ala67=) | |
15 | g.31070110G>A | CA391537173 | TRPM1 | c.134C>T (p.Ala45Val) c.251C>T (p.Ala84Val) c.200C>T (p.Ala67Val) | |
15 | g.31070110G>C | CA391537175 | TRPM1 | c.134C>G (p.Ala45Gly) c.251C>G (p.Ala84Gly) c.200C>G (p.Ala67Gly) | |
15 | g.31070110G>T | CA391537174 | TRPM1 | c.134C>A (p.Ala45Asp) c.251C>A (p.Ala84Asp) c.200C>A (p.Ala67Asp) | |
15 | g.31070111C>A | CA391537178 | TRPM1 | c.133G>T (p.Ala45Ser) c.250G>T (p.Ala84Ser) c.199G>T (p.Ala67Ser) | |
15 | g.31070111C>G | CA391537179 | TRPM1 | c.133G>C (p.Ala45Pro) c.250G>C (p.Ala84Pro) c.199G>C (p.Ala67Pro) | |
15 | g.31070111C>T | CA391537181 | TRPM1 | c.133G>A (p.Ala45Thr) c.250G>A (p.Ala84Thr) c.199G>A (p.Ala67Thr) | |
15 | g.31070112A= | CA2167784154 | TRPM1 | c.132T= (p.Val44=) c.249T= (p.Val83=) c.198T= (p.Val66=) | |
15 | g.31070112A>C | CA489644883 | TRPM1 | c.132T>G (p.Val44=) c.249T>G (p.Val83=) c.198T>G (p.Val66=) | |
15 | g.31070112A>G | CA7453058 | TRPM1 | c.132T>C (p.Val44=) c.249T>C (p.Val83=) c.198T>C (p.Val66=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070112A>T | CA489644884 | TRPM1 | c.132T>A (p.Val44=) c.249T>A (p.Val83=) c.198T>A (p.Val66=) | |
15 | g.31070113A= | CA2167784155 | TRPM1 | c.131T= (p.Val44=) c.248T= (p.Val83=) c.197T= (p.Val66=) | |
15 | g.31070113A>C | CA391537186 | TRPM1 | c.131T>G (p.Val44Gly) c.248T>G (p.Val83Gly) c.197T>G (p.Val66Gly) | |
15 | g.31070113A>G | CA391537187 | TRPM1 | c.131T>C (p.Val44Ala) c.248T>C (p.Val83Ala) c.197T>C (p.Val66Ala) | COSMIC |
15 | g.31070113A>T | CA391537188 | TRPM1 | c.131T>A (p.Val44Asp) c.248T>A (p.Val83Asp) c.197T>A (p.Val66Asp) | |
15 | g.31070114C>A | CA391537194 | TRPM1 | c.130G>T (p.Val44Phe) c.247G>T (p.Val83Phe) c.196G>T (p.Val66Phe) | |
15 | g.31070114C>G | CA391537192 | TRPM1 | c.130G>C (p.Val44Leu) c.247G>C (p.Val83Leu) c.196G>C (p.Val66Leu) | |
15 | g.31070114C>T | CA391537191 | TRPM1 | c.130G>A (p.Val44Ile) c.247G>A (p.Val83Ile) c.196G>A (p.Val66Ile) | |
15 | g.31070114_31070115insCC | CA7453059 | TRPM1 | c.130_131insGG (p.Val44GlyfsTer?) c.247_248insGG (p.Val83GlyfsTer?) c.130_131insGG (p.Val44GlyfsTer30) c.196_197insGG (p.Val66GlyfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070115A>C | CA489644888 | TRPM1 | c.129T>G (p.Ser43=) c.246T>G (p.Ser82=) c.195T>G (p.Ser65=) | |
15 | g.31070115A>G | CA489644890 | TRPM1 | c.129T>C (p.Ser43=) c.246T>C (p.Ser82=) c.195T>C (p.Ser65=) | |
15 | g.31070115A>T | CA489644889 | TRPM1 | c.129T>A (p.Ser43=) c.246T>A (p.Ser82=) c.195T>A (p.Ser65=) | |
15 | g.31070116G>A | CA391537196 | TRPM1 | c.128C>T (p.Ser43Phe) c.245C>T (p.Ser82Phe) c.194C>T (p.Ser65Phe) | |
15 | g.31070116G>C | CA391537198 | TRPM1 | c.128C>G (p.Ser43Cys) c.245C>G (p.Ser82Cys) c.194C>G (p.Ser65Cys) | |
15 | g.31070116G>T | CA391537200 | TRPM1 | c.128C>A (p.Ser43Tyr) c.245C>A (p.Ser82Tyr) c.194C>A (p.Ser65Tyr) | COSMIC |
15 | g.31070117A>C | CA391537203 | TRPM1 | c.127T>G (p.Ser43Ala) c.244T>G (p.Ser82Ala) c.193T>G (p.Ser65Ala) | |
15 | g.31070117A>G | CA391537206 | TRPM1 | c.127T>C (p.Ser43Pro) c.244T>C (p.Ser82Pro) c.193T>C (p.Ser65Pro) | |
15 | g.31070117A>T | CA391537204 | TRPM1 | c.127T>A (p.Ser43Thr) c.244T>A (p.Ser82Thr) c.193T>A (p.Ser65Thr) | |
15 | g.31070118C>A | CA391537208 | TRPM1 | c.126G>T (p.Trp42Cys) c.243G>T (p.Trp81Cys) c.192G>T (p.Trp64Cys) | |
15 | g.31070118C>G | CA391537210 | TRPM1 | c.126G>C (p.Trp42Cys) c.243G>C (p.Trp81Cys) c.192G>C (p.Trp64Cys) | |
15 | g.31070118C>T | CA391537212 | TRPM1 | c.126G>A (p.Trp42Ter) c.243G>A (p.Trp81Ter) c.192G>A (p.Trp64Ter) | |
15 | g.31070119C>A | CA391537214 | TRPM1 | c.125G>T (p.Trp42Leu) c.242G>T (p.Trp81Leu) c.191G>T (p.Trp64Leu) | |
15 | g.31070119C= | CA2167784156 | TRPM1 | c.125G= (p.Trp42=) c.242G= (p.Trp81=) c.191G= (p.Trp64=) | |
15 | g.31070119C>G | CA7453060 | TRPM1 | c.125G>C (p.Trp42Ser) c.242G>C (p.Trp81Ser) c.191G>C (p.Trp64Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070119C>T | CA391537218 | TRPM1 | c.125G>A (p.Trp42Ter) c.242G>A (p.Trp81Ter) c.191G>A (p.Trp64Ter) | |
15 | g.31070120A>C | CA391537221 | TRPM1 | c.124T>G (p.Trp42Gly) c.241T>G (p.Trp81Gly) c.190T>G (p.Trp64Gly) | |
15 | g.31070120A>G | CA391537222 | TRPM1 | c.124T>C (p.Trp42Arg) c.241T>C (p.Trp81Arg) c.190T>C (p.Trp64Arg) | |
15 | g.31070120A>T | CA391537224 | TRPM1 | c.124T>A (p.Trp42Arg) c.241T>A (p.Trp81Arg) c.190T>A (p.Trp64Arg) | |
15 | g.31070121T>A | CA391537225 | TRPM1 | c.123A>T (p.Lys41Asn) c.240A>T (p.Lys80Asn) c.189A>T (p.Lys63Asn) | gnomAD v4 |
15 | g.31070121T>C | CA489644894 | TRPM1 | c.123A>G (p.Lys41=) c.240A>G (p.Lys80=) c.189A>G (p.Lys63=) | |
15 | g.31070121T>G | CA391537226 | TRPM1 | c.123A>C (p.Lys41Asn) c.240A>C (p.Lys80Asn) c.189A>C (p.Lys63Asn) |