Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919490T>A | CA397460035 | MC1R | c.232T>A (p.Cys78Ser) | |
16 | g.89919490T>C | CA397460031 | MC1R | c.232T>C (p.Cys78Arg) | |
16 | g.89919490T>G | CA397460034 | MC1R | c.232T>G (p.Cys78Gly) | |
16 | g.89919491G>A | CA397460037 | MC1R | c.233G>A (p.Cys78Tyr) | |
16 | g.89919491G>C | CA8255531 | MC1R | c.233G>C (p.Cys78Ser) | dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.89919491G= | CA2242009407 | MC1R | c.233G= (p.Cys78=) | |
16 | g.89919491G>T | CA397460041 | MC1R | c.233G>T (p.Cys78Phe) | |
16 | g.89919492C>A | CA397460043 | MC1R | c.234C>A (p.Cys78Ter) | |
16 | g.89919492C>G | CA397460046 | MC1R | c.234C>G (p.Cys78Trp) | |
16 | g.89919492C>T | CA497380129 | MC1R | c.234C>T (p.Cys78=) | |
16 | g.89919493T>A | CA397460047 | MC1R | c.235T>A (p.Cys79Ser) | |
16 | g.89919493T>C | CA397460048 | MC1R | c.235T>C (p.Cys79Arg) | |
16 | g.89919493T>G | CA397460049 | MC1R | c.235T>G (p.Cys79Gly) | |
16 | g.89919494G>A | CA397460050 | MC1R | c.236G>A (p.Cys79Tyr) | |
16 | g.89919494G>C | CA397460051 | MC1R | c.236G>C (p.Cys79Ser) | |
16 | g.89919494G>T | CA397460053 | MC1R | c.236G>T (p.Cys79Phe) | |
16 | g.89919495C>A | CA397460056 | MC1R | c.237C>A (p.Cys79Ter) | |
16 | g.89919495C= | CA2242009408 | MC1R | c.237C= (p.Cys79=) | |
16 | g.89919495C>G | CA397460054 | MC1R | c.237C>G (p.Cys79Trp) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919495C>T | CA497380132 | MC1R | c.237C>T (p.Cys79=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.89919496C>A | CA397460058 | MC1R | c.238C>A (p.Leu80Met) | |
16 | g.89919496C>G | CA397460060 | MC1R | c.238C>G (p.Leu80Val) | |
16 | g.89919496C>T | CA497380133 | MC1R | c.238C>T (p.Leu80=) | ClinVar dbSNP gnomAD v4 |
16 | g.89919497T>A | CA397460062 | MC1R | c.239T>A (p.Leu80Gln) | |
16 | g.89919497T>C | CA397460063 | MC1R | c.239T>C (p.Leu80Pro) | gnomAD v4 |
16 | g.89919497T>G | CA397460065 | MC1R | c.239T>G (p.Leu80Arg) | |
16 | g.89919498G>A | CA497380136 | MC1R | c.240G>A (p.Leu80=) | gnomAD v4 |
16 | g.89919498G>C | CA497380135 | MC1R | c.240G>C (p.Leu80=) | |
16 | g.89919498G>T | CA497380134 | MC1R | c.240G>T (p.Leu80=) | gnomAD v4 |
16 | g.89919499G>A | CA397460067 | MC1R | c.241G>A (p.Ala81Thr) | |
16 | g.89919499G>C | CA8255532 | MC1R | c.241G>C (p.Ala81Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919499G= | CA2242009409 | MC1R | c.241G= (p.Ala81=) | |
16 | g.89919499G>T | CA397460069 | MC1R | c.241G>T (p.Ala81Ser) | dbSNP gnomAD v4 |
16 | g.89919500C>A | CA397460070 | MC1R | c.242C>A (p.Ala81Asp) | gnomAD v4 |
16 | g.89919500C= | CA2242009410 | MC1R | c.242C= (p.Ala81=) | |
16 | g.89919500C>G | CA397460073 | MC1R | c.242C>G (p.Ala81Gly) | |
16 | g.89919500C>T | CA397460071 | MC1R | c.242C>T (p.Ala81Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919501C>A | CA8255533 | MC1R | c.243C>A (p.Ala81=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919501C= | CA2242009411 | MC1R | c.243C= (p.Ala81=) | |
16 | g.89919501C>G | CA8255534 | MC1R | c.243C>G (p.Ala81=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919501C>T | CA497380140 | MC1R | c.243C>T (p.Ala81=) | dbSNP |
16 | g.89919502T>A | CA397460076 | MC1R | c.244T>A (p.Leu82Met) | |
16 | g.89919502T>C | CA497380141 | MC1R | c.244T>C (p.Leu82=) | dbSNP |
16 | g.89919502T>G | CA397460077 | MC1R | c.244T>G (p.Leu82Val) | |
16 | g.89919503T>A | CA397460079 | MC1R | c.245T>A (p.Leu82Ter) | |
16 | g.89919503T>C | CA397460081 | MC1R | c.245T>C (p.Leu82Ser) | |
16 | g.89919503T>G | CA397460080 | MC1R | c.245T>G (p.Leu82Trp) | |
16 | g.89919504G>A | CA497380143 | MC1R | c.246G>A (p.Leu82=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919504G>C | CA397460083 | MC1R | c.246G>C (p.Leu82Phe) | |
16 | g.89919504G= | CA2242009412 | MC1R | c.246G= (p.Leu82=) |