Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
16 | g.89919601C= | CA2242009475 | MC1R | c.343C= (p.Gln115=) | |
16 | g.89919601C>G | CA397460385 | MC1R | c.343C>G (p.Gln115Glu) | |
16 | g.89919601C>T | CA286607459 | MC1R | c.343C>T (p.Gln115Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919602A>C | CA397460387 | MC1R | c.344A>C (p.Gln115Pro) | |
16 | g.89919602A>G | CA397460388 | MC1R | c.344A>G (p.Gln115Arg) | |
16 | g.89919602A>T | CA397460386 | MC1R | c.344A>T (p.Gln115Leu) | |
16 | g.89919603G>A | CA497380307 | MC1R | c.345G>A (p.Gln115=) | gnomAD v4 |
16 | g.89919603G>C | CA397460389 | MC1R | c.345G>C (p.Gln115His) | |
16 | g.89919603G>T | CA397460390 | MC1R | c.345G>T (p.Gln115His) | gnomAD v4 |
16 | g.89919604C>A | CA397460391 | MC1R | c.346C>A (p.Leu116Met) | |
16 | g.89919604C>G | CA397460392 | MC1R | c.346C>G (p.Leu116Val) | dbSNP gnomAD v4 |
16 | g.89919604C>T | CA497380311 | MC1R | c.346C>T (p.Leu116=) | |
16 | g.89919605T>A | CA397460395 | MC1R | c.347T>A (p.Leu116Gln) | |
16 | g.89919605T>C | CA397460394 | MC1R | c.347T>C (p.Leu116Pro) | |
16 | g.89919605T>G | CA397460393 | MC1R | c.347T>G (p.Leu116Arg) | |
16 | g.89919606G>A | CA8255565 | MC1R | c.348G>A (p.Leu116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919606G>C | CA497380315 | MC1R | c.348G>C (p.Leu116=) | |
16 | g.89919606G= | CA2242009476 | MC1R | c.348G= (p.Leu116=) | |
16 | g.89919606G>T | CA497380316 | MC1R | c.348G>T (p.Leu116=) | |
16 | g.89919607G>A | CA397460397 | MC1R | c.349G>A (p.Asp117Asn) | |
16 | g.89919607G>C | CA286607461 | MC1R | c.349G>C (p.Asp117His) | dbSNP |
16 | g.89919607G= | CA2242009477 | MC1R | c.349G= (p.Asp117=) | |
16 | g.89919607G>T | CA397460398 | MC1R | c.349G>T (p.Asp117Tyr) | gnomAD v4 |
16 | g.89919608_89919613dup | CA2635065854 | MC1R | c.350_355dup (p.Asn118_Val119insAspAsn) | gnomAD v4 |
16 | g.89919608A= | CA2242009478 | MC1R | c.350A= (p.Asp117=) | |
16 | g.89919608A>C | CA397460401 | MC1R | c.350A>C (p.Asp117Ala) |