Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |