Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
16 | g.89919595C>T | CA497380291 | MC1R | c.337C>T (p.Leu113=) | ClinVar dbSNP gnomAD v4 |
16 | g.89919596T>A | CA397460365 | MC1R | c.338T>A (p.Leu113Gln) | |
16 | g.89919596T>C | CA397460368 | MC1R | c.338T>C (p.Leu113Pro) | |
16 | g.89919596T>G | CA397460363 | MC1R | c.338T>G (p.Leu113Arg) | |
16 | g.89919597G>A | CA497380295 | MC1R | c.339G>A (p.Leu113=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919597G>C | CA497380294 | MC1R | c.339G>C (p.Leu113=) | |
16 | g.89919597G= | CA2242009472 | MC1R | c.339G= (p.Leu113=) | |
16 | g.89919597G>T | CA497380293 | MC1R | c.339G>T (p.Leu113=) | gnomAD v4 |
16 | g.89919598C>A | CA397460370 | MC1R | c.340C>A (p.Gln114Lys) | |
16 | g.89919598C= | CA2242009473 | MC1R | c.340C= (p.Gln114=) | |
16 | g.89919598C>G | CA397460371 | MC1R | c.340C>G (p.Gln114Glu) | |
16 | g.89919598C>T | CA397460373 | MC1R | c.340C>T (p.Gln114Ter) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919599A>C | CA397460374 | MC1R | c.341A>C (p.Gln114Pro) | |
16 | g.89919599A>G | CA397460376 | MC1R | c.341A>G (p.Gln114Arg) | |
16 | g.89919599A>T | CA397460379 | MC1R | c.341A>T (p.Gln114Leu) | |
16 | g.89919600G>A | CA497380302 | MC1R | c.342G>A (p.Gln114=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919600G>C | CA397460381 | MC1R | c.342G>C (p.Gln114His) | gnomAD v4 |
16 | g.89919600G= | CA2242009474 | MC1R | c.342G= (p.Gln114=) | |
16 | g.89919600G>T | CA397460382 | MC1R | c.342G>T (p.Gln114His) | |
16 | g.89919601C>A | CA397460383 | MC1R | c.343C>A (p.Gln115Lys) |