Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919312del | CA1139665004 | MC1R | c.54del (p.Thr19GlnfsTer?) | ClinVar dbSNP |
16 | g.89919312C>A | CA497380568 | MC1R | c.54C>A (p.Pro18=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919312C= | CA2242009291 | MC1R | c.54C= (p.Pro18=) | |
16 | g.89919312C>G | CA497380569 | MC1R | c.54C>G (p.Pro18=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919312C>T | CA497380570 | MC1R | c.54C>T (p.Pro18=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919313A= | CA2242009292 | MC1R | c.55A= (p.Thr19=) | |
16 | g.89919313A>C | CA397459112 | MC1R | c.55A>C (p.Thr19Pro) | |
16 | g.89919313A>G | CA397459114 | MC1R | c.55A>G (p.Thr19Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919313A>T | CA397459115 | MC1R | c.55A>T (p.Thr19Ser) | |
16 | g.89919314C>A | CA397459116 | MC1R | c.56C>A (p.Thr19Lys) | |
16 | g.89919314C= | CA2242009293 | MC1R | c.56C= (p.Thr19=) | |
16 | g.89919314C>G | CA397459117 | MC1R | c.56C>G (p.Thr19Arg) | |
16 | g.89919314C>T | CA8255471 | MC1R | c.56C>T (p.Thr19Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919315A>C | CA497380572 | MC1R | c.57A>C (p.Thr19=) | |
16 | g.89919315A>G | CA497380573 | MC1R | c.57A>G (p.Thr19=) | |
16 | g.89919315A>T | CA497380574 | MC1R | c.57A>T (p.Thr19=) | |
16 | g.89919316G>A | CA397459118 | MC1R | c.58G>A (p.Ala20Thr) | |
16 | g.89919316G>C | CA397459119 | MC1R | c.58G>C (p.Ala20Pro) | |
16 | g.89919316G>T | CA397459120 | MC1R | c.58G>T (p.Ala20Ser) | |
16 | g.89919317C>A | CA397459124 | MC1R | c.59C>A (p.Ala20Asp) | |
16 | g.89919317C= | CA2242009294 | MC1R | c.59C= (p.Ala20=) | |
16 | g.89919317C>G | CA8255472 | MC1R | c.59C>G (p.Ala20Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919317C>T | CA397459122 | MC1R | c.59C>T (p.Ala20Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919318C>A | CA497380580 | MC1R | c.60C>A (p.Ala20=) | |
16 | g.89919318C>G | CA497380581 | MC1R | c.60C>G (p.Ala20=) | |
16 | g.89919318C>T | CA497380582 | MC1R | c.60C>T (p.Ala20=) | |
16 | g.89919319A>C | CA397459135 | MC1R | c.61A>C (p.Ile21Leu) | |
16 | g.89919319A>G | CA397459128 | MC1R | c.61A>G (p.Ile21Val) | dbSNP gnomAD v4 |
16 | g.89919319A>T | CA397459133 | MC1R | c.61A>T (p.Ile21Phe) | |
16 | g.89919320del | CA2576103978 | MC1R | c.62del (p.Ile21ThrfsTer?) | |
16 | g.89919320T>A | CA397459137 | MC1R | c.62T>A (p.Ile21Asn) | |
16 | g.89919320T>C | CA397459139 | MC1R | c.62T>C (p.Ile21Thr) | |
16 | g.89919320T>G | CA397459140 | MC1R | c.62T>G (p.Ile21Ser) | |
16 | g.89919321C>A | CA497380584 | MC1R | c.63C>A (p.Ile21=) | |
16 | g.89919321C>G | CA397459142 | MC1R | c.63C>G (p.Ile21Met) | |
16 | g.89919321C>T | CA497380586 | MC1R | c.63C>T (p.Ile21=) | ClinVar dbSNP |
16 | g.89919322C>A | CA397459145 | MC1R | c.64C>A (p.Pro22Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919322C= | CA2242009295 | MC1R | c.64C= (p.Pro22=) | |
16 | g.89919322C>G | CA397459148 | MC1R | c.64C>G (p.Pro22Ala) | |
16 | g.89919322C>T | CA397459149 | MC1R | c.64C>T (p.Pro22Ser) | |
16 | g.89919323C>A | CA397459151 | MC1R | c.65C>A (p.Pro22His) | |
16 | g.89919323C= | CA2242009297 | MC1R | c.65C= (p.Pro22=) | |
16 | g.89919323C>G | CA397459153 | MC1R | c.65C>G (p.Pro22Arg) | |
16 | g.89919323C>T | CA397459155 | MC1R | c.65C>T (p.Pro22Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919323_89919344delinsCCCAGCTGGGGCTGGCTGCCAA | CA2242009296 | MC1R | c.65_86delinsCCCAGCTGGGGCTGGCTGCCAA (p.Pro22=) | |
16 | g.89919324C>A | CA497380595 | MC1R | c.66C>A (p.Pro22=) | |
16 | g.89919324C= | CA2242009298 | MC1R | c.66C= (p.Pro22=) | |
16 | g.89919324C>G | CA497380599 | MC1R | c.66C>G (p.Pro22=) | |
16 | g.89919324C>T | CA8255473 | MC1R | c.66C>T (p.Pro22=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919328_89919348del | CA624455298 | MC1R | c.70_90del (p.Leu24_Gln30del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |