Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.31070212_31070344delinsCAACCA2580089226TRPM1c.18-118_32delinsGTTG
c.135-118_149delinsGTTG
c.84-118_98delinsGTTG
 ClinVar
15g.31070217A>CCA391537788TRPM1c.27T>G (p.Cys9Trp)
c.144T>G (p.Cys48Trp)
c.93T>G (p.Cys31Trp)
15g.31070217A>GCA489644617TRPM1c.27T>C (p.Cys9=)
c.144T>C (p.Cys48=)
c.93T>C (p.Cys31=)
15g.31070217A>TCA391537786TRPM1c.27T>A (p.Cys9Ter)
c.144T>A (p.Cys48Ter)
c.93T>A (p.Cys31Ter)
15g.31070218C>ACA391537793TRPM1c.26G>T (p.Cys9Phe)
c.143G>T (p.Cys48Phe)
c.92G>T (p.Cys31Phe)
15g.31070218C=CA2167784204TRPM1c.26G= (p.Cys9=)
c.143G= (p.Cys48=)
c.92G= (p.Cys31=)
15g.31070218C>GCA391537796TRPM1c.26G>C (p.Cys9Ser)
c.143G>C (p.Cys48Ser)
c.92G>C (p.Cys31Ser)
15g.31070218C>TCA391537799TRPM1c.26G>A (p.Cys9Tyr)
c.143G>A (p.Cys48Tyr)
c.92G>A (p.Cys31Tyr)
 dbSNP gnomAD v4
15g.31070219A>CCA391537803TRPM1c.25T>G (p.Cys9Gly)
c.142T>G (p.Cys48Gly)
c.91T>G (p.Cys31Gly)
15g.31070219A>GCA391537805TRPM1c.25T>C (p.Cys9Arg)
c.142T>C (p.Cys48Arg)
c.91T>C (p.Cys31Arg)
15g.31070219A>TCA391537807TRPM1c.25T>A (p.Cys9Ser)
c.142T>A (p.Cys48Ser)
c.91T>A (p.Cys31Ser)
 gnomAD v4
15g.31070220G>ACA7453078TRPM1c.24C>T (p.Cys8=)
c.141C>T (p.Cys47=)
c.90C>T (p.Cys30=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.31070220G>CCA391537818TRPM1c.24C>G (p.Cys8Trp)
c.141C>G (p.Cys47Trp)
c.90C>G (p.Cys30Trp)
15g.31070220G=CA2167784205TRPM1c.24C= (p.Cys8=)
c.141C= (p.Cys47=)
c.90C= (p.Cys30=)
15g.31070220G>TCA391537815TRPM1c.24C>A (p.Cys8Ter)
c.141C>A (p.Cys47Ter)
c.90C>A (p.Cys30Ter)
15g.31070221C>ACA391537822TRPM1c.23G>T (p.Cys8Phe)
c.140G>T (p.Cys47Phe)
c.89G>T (p.Cys30Phe)
 COSMIC
15g.31070221C>GCA391537825TRPM1c.23G>C (p.Cys8Ser)
c.140G>C (p.Cys47Ser)
c.89G>C (p.Cys30Ser)
15g.31070221C>TCA391537827TRPM1c.23G>A (p.Cys8Tyr)
c.140G>A (p.Cys47Tyr)
c.89G>A (p.Cys30Tyr)
15g.31070221dupCA2167784206TRPM1c.23dup (p.Cys8TrpfsTer22)
c.140dup (p.Cys47TrpfsTer22)
c.89dup (p.Cys30TrpfsTer22)
 dbSNP
15g.31070222A=CA2167784207TRPM1c.22T= (p.Cys8=)
c.139T= (p.Cys47=)
c.88T= (p.Cys30=)
15g.31070222A>CCA391537833TRPM1c.22T>G (p.Cys8Gly)
c.139T>G (p.Cys47Gly)
c.88T>G (p.Cys30Gly)
15g.31070222A>GCA7453079TRPM1c.22T>C (p.Cys8Arg)
c.139T>C (p.Cys47Arg)
c.88T>C (p.Cys30Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.31070222A>TCA391537838TRPM1c.22T>A (p.Cys8Ser)
c.139T>A (p.Cys47Ser)
c.88T>A (p.Cys30Ser)
15g.31070223A=CA2167784208TRPM1c.21T= (p.Cys7=)
c.138T= (p.Cys46=)
c.87T= (p.Cys29=)
15g.31070223A>CCA391537843TRPM1c.21T>G (p.Cys7Trp)
c.138T>G (p.Cys46Trp)
c.87T>G (p.Cys29Trp)
15g.31070223A>GCA489644625TRPM1c.21T>C (p.Cys7=)
c.138T>C (p.Cys46=)
c.87T>C (p.Cys29=)
 dbSNP gnomAD v3 gnomAD v4
15g.31070223A>TCA391537845TRPM1c.21T>A (p.Cys7Ter)
c.138T>A (p.Cys46Ter)
c.87T>A (p.Cys29Ter)
15g.31070224C>ACA391537849TRPM1c.20G>T (p.Cys7Phe)
c.137G>T (p.Cys46Phe)
c.86G>T (p.Cys29Phe)
15g.31070224C>GCA391537852TRPM1c.20G>C (p.Cys7Ser)
c.137G>C (p.Cys46Ser)
c.86G>C (p.Cys29Ser)
15g.31070224C>TCA391537853TRPM1c.20G>A (p.Cys7Tyr)
c.137G>A (p.Cys46Tyr)
c.86G>A (p.Cys29Tyr)
 gnomAD v4
15g.31070225A=CA2167784209TRPM1c.19T= (p.Cys7=)
c.136T= (p.Cys46=)
c.85T= (p.Cys29=)
15g.31070225A>CCA267502167TRPM1c.19T>G (p.Cys7Gly)
c.136T>G (p.Cys46Gly)
c.85T>G (p.Cys29Gly)
 dbSNP
15g.31070225A>GCA391537860TRPM1c.19T>C (p.Cys7Arg)
c.136T>C (p.Cys46Arg)
c.85T>C (p.Cys29Arg)
15g.31070225A>TCA391537858TRPM1c.19T>A (p.Cys7Ser)
c.136T>A (p.Cys46Ser)
c.85T>A (p.Cys29Ser)
15g.31070226C>ACA391537863TRPM1c.18G>T (p.Arg6Ser)
c.135G>T (p.Arg45Ser)
c.84G>T (p.Arg28Ser)
15g.31070226C>GCA391537866TRPM1c.18G>C (p.Arg6Ser)
c.135G>C (p.Arg45Ser)
c.84G>C (p.Arg28Ser)
15g.31070226C>TCA489644631TRPM1c.18G>A (p.Arg6=)
c.135G>A (p.Arg45=)
c.84G>A (p.Arg28=)
15g.31070227C>ACA391537869TRPM1c.18-1G>T (n.18-1G>T)
c.135-1G>T (n.135-1G>T)
c.84-1G>T (n.84-1G>T)
15g.31070227C>GCA391537875TRPM1c.18-1G>C (n.18-1G>C)
c.135-1G>C (n.135-1G>C)
c.84-1G>C (n.84-1G>C)
15g.31070227C>TCA391537871TRPM1c.18-1G>A (n.18-1G>A)
c.135-1G>A (n.135-1G>A)
c.84-1G>A (n.84-1G>A)
15g.31070228T>ACA391537879TRPM1c.18-2A>T (n.18-2A>T)
c.135-2A>T (n.135-2A>T)
c.84-2A>T (n.84-2A>T)
15g.31070228T>CCA391537883TRPM1c.18-2A>G (n.18-2A>G)
c.135-2A>G (n.135-2A>G)
c.84-2A>G (n.84-2A>G)
15g.31070228T>GCA391537881TRPM1c.18-2A>C (n.18-2A>C)
c.135-2A>C (n.135-2A>C)
c.84-2A>C (n.84-2A>C)
 gnomAD v4
15g.31070229G>ACA711978858TRPM1c.18-3C>T (n.18-3C>T)
c.135-3C>T (n.135-3C>T)
c.84-3C>T (n.84-3C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.31070229G>CCA7453080TRPM1c.18-3C>G (n.18-3C>G)
c.135-3C>G (n.135-3C>G)
c.84-3C>G (n.84-3C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.31070229G=CA2167784210TRPM1c.18-3C= (n.18-3C=)
c.135-3C= (n.135-3C=)
c.84-3C= (n.84-3C=)
15g.31070230A=CA2167784211TRPM1c.18-4T= (n.18-4T=)
c.135-4T= (n.135-4T=)
c.84-4T= (n.84-4T=)
15g.31070230A>CCA968313794TRPM1c.18-4T>G (n.18-4T>G)
c.135-4T>G (n.135-4T>G)
c.84-4T>G (n.84-4T>G)
 dbSNP gnomAD v3 gnomAD v4
15g.31070231A>GCA2575744335TRPM1c.18-5T>C (n.18-5T>C)
c.135-5T>C (n.135-5T>C)
c.84-5T>C (n.84-5T>C)
15g.31070234C=CA2167784212TRPM1c.18-8G= (n.18-8G=)
c.135-8G= (n.135-8G=)
c.84-8G= (n.84-8G=)

Number of alleles fetched