Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919583C>A | CA497380269 | MC1R | c.325C>A (p.Arg109=) | gnomAD v4 |
16 | g.89919583C= | CA2242009461 | MC1R | c.325C= (p.Arg109=) | |
16 | g.89919583C>G | CA397460327 | MC1R | c.325C>G (p.Arg109Gly) | gnomAD v4 |
16 | g.89919583C>T | CA8255558 | MC1R | c.325C>T (p.Arg109Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919584G>A | CA8255559 | MC1R | c.326G>A (p.Arg109Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919584G>C | CA397460328 | MC1R | c.326G>C (p.Arg109Pro) | |
16 | g.89919584G= | CA2242009462 | MC1R | c.326G= (p.Arg109=) | |
16 | g.89919584G>T | CA397460329 | MC1R | c.326G>T (p.Arg109Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919585G>A | CA497380271 | MC1R | c.327G>A (p.Arg109=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919585G>C | CA497380272 | MC1R | c.327G>C (p.Arg109=) | dbSNP gnomAD v4 |
16 | g.89919585G= | CA2242009463 | MC1R | c.327G= (p.Arg109=) | |
16 | g.89919585G>T | CA497380274 | MC1R | c.327G>T (p.Arg109=) | gnomAD v4 |
16 | g.89919586G>A | CA397460330 | MC1R | c.328G>A (p.Ala110Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919586G>C | CA397460331 | MC1R | c.328G>C (p.Ala110Pro) | |
16 | g.89919586G= | CA2242009464 | MC1R | c.328G= (p.Ala110=) | |
16 | g.89919586G>T | CA286607455 | MC1R | c.328G>T (p.Ala110Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919587C>A | CA397460333 | MC1R | c.329C>A (p.Ala110Asp) | gnomAD v4 |
16 | g.89919587C= | CA2242009465 | MC1R | c.329C= (p.Ala110=) | |
16 | g.89919587C>G | CA397460335 | MC1R | c.329C>G (p.Ala110Gly) | |
16 | g.89919587C>T | CA8255560 | MC1R | c.329C>T (p.Ala110Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919588T>A | CA497380275 | MC1R | c.330T>A (p.Ala110=) | |
16 | g.89919588T>C | CA8255561 | MC1R | c.330T>C (p.Ala110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919588T>G | CA497380277 | MC1R | c.330T>G (p.Ala110=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919588T= | CA2242009466 | MC1R | c.330T= (p.Ala110=) | |
16 | g.89919589G>A | CA397460341 | MC1R | c.331G>A (p.Ala111Thr) | ClinVar dbSNP |
16 | g.89919589G>C | CA397460339 | MC1R | c.331G>C (p.Ala111Pro) | |
16 | g.89919589G>T | CA397460338 | MC1R | c.331G>T (p.Ala111Ser) | gnomAD v4 |
16 | g.89919590C>A | CA397460343 | MC1R | c.332C>A (p.Ala111Glu) | |
16 | g.89919590C= | CA2242009467 | MC1R | c.332C= (p.Ala111=) | |
16 | g.89919590C>G | CA397460344 | MC1R | c.332C>G (p.Ala111Gly) | |
16 | g.89919590C>T | CA8255562 | MC1R | c.332C>T (p.Ala111Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919591G>A | CA8255563 | MC1R | c.333G>A (p.Ala111=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919591G>C | CA497380283 | MC1R | c.333G>C (p.Ala111=) | |
16 | g.89919591G= | CA2242009468 | MC1R | c.333G= (p.Ala111=) | |
16 | g.89919591G>T | CA497380285 | MC1R | c.333G>T (p.Ala111=) | |
16 | g.89919592G>A | CA8255564 | MC1R | c.334G>A (p.Val112Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919592G>C | CA397460347 | MC1R | c.334G>C (p.Val112Leu) | |
16 | g.89919592G= | CA2242009469 | MC1R | c.334G= (p.Val112=) | |
16 | g.89919592G>T | CA397460348 | MC1R | c.334G>T (p.Val112Leu) | |
16 | g.89919593T>A | CA397460350 | MC1R | c.335T>A (p.Val112Glu) | |
16 | g.89919593T>C | CA397460351 | MC1R | c.335T>C (p.Val112Ala) | |
16 | g.89919593T>G | CA397460352 | MC1R | c.335T>G (p.Val112Gly) | |
16 | g.89919593T= | CA2242009470 | MC1R | c.335T= (p.Val112=) | |
16 | g.89919594G>A | CA497380289 | MC1R | c.336G>A (p.Val112=) | gnomAD v4 |
16 | g.89919594G>C | CA497380290 | MC1R | c.336G>C (p.Val112=) | |
16 | g.89919594G>T | CA497380288 | MC1R | c.336G>T (p.Val112=) | |
16 | g.89919594_89919601dup | CA286607458 | MC1R | c.336_343dup (p.Gln115ArgfsTer11) | dbSNP gnomAD v4 |
16 | g.89919595C>A | CA397460354 | MC1R | c.337C>A (p.Leu113Met) | dbSNP gnomAD v2 |
16 | g.89919595C= | CA2242009471 | MC1R | c.337C= (p.Leu113=) | |
16 | g.89919595C>G | CA397460356 | MC1R | c.337C>G (p.Leu113Val) |