| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.31070210_31070214delinsACTGG | CA2167784200 | TRPM1 | c.30_34delinsCCAGT (p.Gly10=) c.147_151delinsCCAGT (p.Gly49=) c.96_100delinsCCAGT (p.Gly32=) | |
| 15 | g.31070212_31070215del | CA617553148 | TRPM1 | c.30_33del (p.Gln11SerfsTer?) c.147_150del (p.Gln50SerfsTer?) c.96_99del (p.Gln33SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.31070212_31070344delinsCAAC | CA2580089226 | TRPM1 | c.18-118_32delinsGTTG c.135-118_149delinsGTTG c.84-118_98delinsGTTG | ClinVar |
| 15 | g.31070213G>A | CA118067 | TRPM1 | c.31C>T (p.Gln11Ter) c.148C>T (p.Gln50Ter) c.97C>T (p.Gln33Ter) | ClinVar dbSNP gnomAD v4 |
| 15 | g.31070213G>C | CA391537764 | TRPM1 | c.31C>G (p.Gln11Glu) c.148C>G (p.Gln50Glu) c.97C>G (p.Gln33Glu) | |
| 15 | g.31070213G= | CA2167784202 | TRPM1 | c.31C= (p.Gln11=) c.148C= (p.Gln50=) c.97C= (p.Gln33=) | |
| 15 | g.31070213G>T | CA391537759 | TRPM1 | c.31C>A (p.Gln11Lys) c.148C>A (p.Gln50Lys) c.97C>A (p.Gln33Lys) | |
| 15 | g.31070214G>A | CA489644963 | TRPM1 | c.30C>T (p.Gly10=) c.147C>T (p.Gly49=) c.96C>T (p.Gly32=) | |
| 15 | g.31070214G>C | CA489644964 | TRPM1 | c.30C>G (p.Gly10=) c.147C>G (p.Gly49=) c.96C>G (p.Gly32=) | |
| 15 | g.31070214G>T | CA489644962 | TRPM1 | c.30C>A (p.Gly10=) c.147C>A (p.Gly49=) c.96C>A (p.Gly32=) | ClinVar |
| 15 | g.31070215C>A | CA391537767 | TRPM1 | c.29G>T (p.Gly10Val) c.146G>T (p.Gly49Val) c.95G>T (p.Gly32Val) | |
| 15 | g.31070215C>G | CA391537771 | TRPM1 | c.29G>C (p.Gly10Ala) c.146G>C (p.Gly49Ala) c.95G>C (p.Gly32Ala) | |
| 15 | g.31070215C>T | CA391537773 | TRPM1 | c.29G>A (p.Gly10Asp) c.146G>A (p.Gly49Asp) c.95G>A (p.Gly32Asp) | |
| 15 | g.31070216C>A | CA391537778 | TRPM1 | c.28G>T (p.Gly10Cys) c.145G>T (p.Gly49Cys) c.94G>T (p.Gly32Cys) | |
| 15 | g.31070216C= | CA2167784203 | TRPM1 | c.28G= (p.Gly10=) c.145G= (p.Gly49=) c.94G= (p.Gly32=) | |
| 15 | g.31070216C>G | CA391537779 | TRPM1 | c.28G>C (p.Gly10Arg) c.145G>C (p.Gly49Arg) c.94G>C (p.Gly32Arg) | |
| 15 | g.31070216C>T | CA391537782 | TRPM1 | c.28G>A (p.Gly10Ser) c.145G>A (p.Gly49Ser) c.94G>A (p.Gly32Ser) | dbSNP |
| 15 | g.31070217A>C | CA391537788 | TRPM1 | c.27T>G (p.Cys9Trp) c.144T>G (p.Cys48Trp) c.93T>G (p.Cys31Trp) | |
| 15 | g.31070217A>G | CA489644617 | TRPM1 | c.27T>C (p.Cys9=) c.144T>C (p.Cys48=) c.93T>C (p.Cys31=) | |
| 15 | g.31070217A>T | CA391537786 | TRPM1 | c.27T>A (p.Cys9Ter) c.144T>A (p.Cys48Ter) c.93T>A (p.Cys31Ter) | |
| 15 | g.31070218C>A | CA391537793 | TRPM1 | c.26G>T (p.Cys9Phe) c.143G>T (p.Cys48Phe) c.92G>T (p.Cys31Phe) | |
| 15 | g.31070218C= | CA2167784204 | TRPM1 | c.26G= (p.Cys9=) c.143G= (p.Cys48=) c.92G= (p.Cys31=) | |
| 15 | g.31070218C>G | CA391537796 | TRPM1 | c.26G>C (p.Cys9Ser) c.143G>C (p.Cys48Ser) c.92G>C (p.Cys31Ser) | |
| 15 | g.31070218C>T | CA391537799 | TRPM1 | c.26G>A (p.Cys9Tyr) c.143G>A (p.Cys48Tyr) c.92G>A (p.Cys31Tyr) | dbSNP gnomAD v4 |
| 15 | g.31070219A>C | CA391537803 | TRPM1 | c.25T>G (p.Cys9Gly) c.142T>G (p.Cys48Gly) c.91T>G (p.Cys31Gly) | |
| 15 | g.31070219A>G | CA391537805 | TRPM1 | c.25T>C (p.Cys9Arg) c.142T>C (p.Cys48Arg) c.91T>C (p.Cys31Arg) | |
| 15 | g.31070219A>T | CA391537807 | TRPM1 | c.25T>A (p.Cys9Ser) c.142T>A (p.Cys48Ser) c.91T>A (p.Cys31Ser) | gnomAD v4 |
| 15 | g.31070220G>A | CA7453078 | TRPM1 | c.24C>T (p.Cys8=) c.141C>T (p.Cys47=) c.90C>T (p.Cys30=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.31070220G>C | CA391537818 | TRPM1 | c.24C>G (p.Cys8Trp) c.141C>G (p.Cys47Trp) c.90C>G (p.Cys30Trp) | |
| 15 | g.31070220G= | CA2167784205 | TRPM1 | c.24C= (p.Cys8=) c.141C= (p.Cys47=) c.90C= (p.Cys30=) | |
| 15 | g.31070220G>T | CA391537815 | TRPM1 | c.24C>A (p.Cys8Ter) c.141C>A (p.Cys47Ter) c.90C>A (p.Cys30Ter) | |
| 15 | g.31070221C>A | CA391537822 | TRPM1 | c.23G>T (p.Cys8Phe) c.140G>T (p.Cys47Phe) c.89G>T (p.Cys30Phe) | COSMIC |
| 15 | g.31070221C>G | CA391537825 | TRPM1 | c.23G>C (p.Cys8Ser) c.140G>C (p.Cys47Ser) c.89G>C (p.Cys30Ser) | |
| 15 | g.31070221C>T | CA391537827 | TRPM1 | c.23G>A (p.Cys8Tyr) c.140G>A (p.Cys47Tyr) c.89G>A (p.Cys30Tyr) | |
| 15 | g.31070221dup | CA2167784206 | TRPM1 | c.23dup (p.Cys8TrpfsTer22) c.140dup (p.Cys47TrpfsTer22) c.89dup (p.Cys30TrpfsTer22) | dbSNP |
| 15 | g.31070222A= | CA2167784207 | TRPM1 | c.22T= (p.Cys8=) c.139T= (p.Cys47=) c.88T= (p.Cys30=) | |
| 15 | g.31070222A>C | CA391537833 | TRPM1 | c.22T>G (p.Cys8Gly) c.139T>G (p.Cys47Gly) c.88T>G (p.Cys30Gly) | |
| 15 | g.31070222A>G | CA7453079 | TRPM1 | c.22T>C (p.Cys8Arg) c.139T>C (p.Cys47Arg) c.88T>C (p.Cys30Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.31070222A>T | CA391537838 | TRPM1 | c.22T>A (p.Cys8Ser) c.139T>A (p.Cys47Ser) c.88T>A (p.Cys30Ser) | |
| 15 | g.31070223A= | CA2167784208 | TRPM1 | c.21T= (p.Cys7=) c.138T= (p.Cys46=) c.87T= (p.Cys29=) | |
| 15 | g.31070223A>C | CA391537843 | TRPM1 | c.21T>G (p.Cys7Trp) c.138T>G (p.Cys46Trp) c.87T>G (p.Cys29Trp) | |
| 15 | g.31070223A>G | CA489644625 | TRPM1 | c.21T>C (p.Cys7=) c.138T>C (p.Cys46=) c.87T>C (p.Cys29=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.31070223A>T | CA391537845 | TRPM1 | c.21T>A (p.Cys7Ter) c.138T>A (p.Cys46Ter) c.87T>A (p.Cys29Ter) | |
| 15 | g.31070224C>A | CA391537849 | TRPM1 | c.20G>T (p.Cys7Phe) c.137G>T (p.Cys46Phe) c.86G>T (p.Cys29Phe) | |
| 15 | g.31070224C>G | CA391537852 | TRPM1 | c.20G>C (p.Cys7Ser) c.137G>C (p.Cys46Ser) c.86G>C (p.Cys29Ser) | |
| 15 | g.31070224C>T | CA391537853 | TRPM1 | c.20G>A (p.Cys7Tyr) c.137G>A (p.Cys46Tyr) c.86G>A (p.Cys29Tyr) | gnomAD v4 |
| 15 | g.31070225A= | CA2167784209 | TRPM1 | c.19T= (p.Cys7=) c.136T= (p.Cys46=) c.85T= (p.Cys29=) | |
| 15 | g.31070225A>C | CA267502167 | TRPM1 | c.19T>G (p.Cys7Gly) c.136T>G (p.Cys46Gly) c.85T>G (p.Cys29Gly) | dbSNP |
| 15 | g.31070225A>G | CA391537860 | TRPM1 | c.19T>C (p.Cys7Arg) c.136T>C (p.Cys46Arg) c.85T>C (p.Cys29Arg) | |
| 15 | g.31070225A>T | CA391537858 | TRPM1 | c.19T>A (p.Cys7Ser) c.136T>A (p.Cys46Ser) c.85T>A (p.Cys29Ser) |