Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919510_89919526del | CA2635065510 | MC1R | c.252_268del (p.Asp84GlufsTer?) | gnomAD v4 |
16 | g.89919520A>C | CA397460130 | MC1R | c.262A>C (p.Ser88Arg) | |
16 | g.89919520A>G | CA397460131 | MC1R | c.262A>G (p.Ser88Gly) | ClinVar dbSNP |
16 | g.89919520A>T | CA397460133 | MC1R | c.262A>T (p.Ser88Cys) | |
16 | g.89919521G>A | CA397460135 | MC1R | c.263G>A (p.Ser88Asn) | |
16 | g.89919521G>C | CA397460136 | MC1R | c.263G>C (p.Ser88Thr) | |
16 | g.89919521G>T | CA397460138 | MC1R | c.263G>T (p.Ser88Ile) | |
16 | g.89919522C>A | CA397460139 | MC1R | c.264C>A (p.Ser88Arg) | |
16 | g.89919522C= | CA2242009422 | MC1R | c.264C= (p.Ser88=) | |
16 | g.89919522C>G | CA397460141 | MC1R | c.264C>G (p.Ser88Arg) | |
16 | g.89919522C>T | CA8255540 | MC1R | c.264C>T (p.Ser88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919522_89919523delinsCG | CA2242009423 | MC1R | c.264_265delinsCG (p.Ser88=) | |
16 | g.89919523G>A | CA8255541 | MC1R | c.265G>A (p.Gly89Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919523G>C | CA8255542 | MC1R | c.265G>C (p.Gly89Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919523G= | CA2242009425 | MC1R | c.265G= (p.Gly89=) | |
16 | g.89919523G>T | CA397460144 | MC1R | c.265G>T (p.Gly89Trp) | |
16 | g.89919525del | CA2242009424 | MC1R | c.267del (p.Ser90AlafsTer?) | dbSNP |
16 | g.89919524G>A | CA397460146 | MC1R | c.266G>A (p.Gly89Glu) | |
16 | g.89919524G>C | CA397460148 | MC1R | c.266G>C (p.Gly89Ala) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919524G= | CA2242009426 | MC1R | c.266G= (p.Gly89=) | |
16 | g.89919524G>T | CA397460150 | MC1R | c.266G>T (p.Gly89Val) | gnomAD v4 |
16 | g.89919525G>A | CA286607448 | MC1R | c.267G>A (p.Gly89=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919525G>C | CA497380166 | MC1R | c.267G>C (p.Gly89=) | |
16 | g.89919525G= | CA2242009427 | MC1R | c.267G= (p.Gly89=) | |
16 | g.89919525G>T | CA497380165 | MC1R | c.267G>T (p.Gly89=) | |
16 | g.89919526A>C | CA397460151 | MC1R | c.268A>C (p.Ser90Arg) | |
16 | g.89919526A>G | CA397460152 | MC1R | c.268A>G (p.Ser90Gly) | |
16 | g.89919526A>T | CA397460154 | MC1R | c.268A>T (p.Ser90Cys) | |
16 | g.89919527G>A | CA397460157 | MC1R | c.269G>A (p.Ser90Asn) | |
16 | g.89919527G>C | CA397460155 | MC1R | c.269G>C (p.Ser90Thr) | |
16 | g.89919527G>T | CA397460156 | MC1R | c.269G>T (p.Ser90Ile) | gnomAD v4 |
16 | g.89919528C>A | CA397460158 | MC1R | c.270C>A (p.Ser90Arg) | COSMIC |
16 | g.89919528C>G | CA397460159 | MC1R | c.270C>G (p.Ser90Arg) | |
16 | g.89919528C>T | CA497380170 | MC1R | c.270C>T (p.Ser90=) | |
16 | g.89919529A>C | CA397460161 | MC1R | c.271A>C (p.Asn91His) | |
16 | g.89919529A>G | CA397460162 | MC1R | c.271A>G (p.Asn91Asp) | |
16 | g.89919529A>T | CA397460164 | MC1R | c.271A>T (p.Asn91Tyr) | |
16 | g.89919530A= | CA2242009428 | MC1R | c.272A= (p.Asn91=) | |
16 | g.89919530A>C | CA397460168 | MC1R | c.272A>C (p.Asn91Thr) | |
16 | g.89919530A>G | CA397460166 | MC1R | c.272A>G (p.Asn91Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919530A>T | CA397460167 | MC1R | c.272A>T (p.Asn91Ile) | |
16 | g.89919531C>A | CA397460170 | MC1R | c.273C>A (p.Asn91Lys) | |
16 | g.89919531C= | CA2242009429 | MC1R | c.273C= (p.Asn91=) | |
16 | g.89919531C>G | CA8255543 | MC1R | c.273C>G (p.Asn91Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919531C>T | CA286607449 | MC1R | c.273C>T (p.Asn91=) | dbSNP gnomAD v4 |
16 | g.89919531_89919532delinsGA | CA2739267010 | MC1R | c.273_274delinsGA (p.Asn91_Val92delinsLysMet) | ClinVar |
16 | g.89919532G>A | CA123863 | MC1R | c.274G>A (p.Val92Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919532G>C | CA8255544 | MC1R | c.274G>C (p.Val92Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919532G= | CA2242009430 | MC1R | c.274G= (p.Val92=) | |
16 | g.89919532G>T | CA397460175 | MC1R | c.274G>T (p.Val92Leu) |