Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919740_89919753delinsCGCGGCGAGCCGTT | CA2242009578 | MC1R | c.482_495delinsCGCGGCGAGCCGTT (p.Ala161=) | |
16 | g.89919741G>A | CA8255613 | MC1R | c.483G>A (p.Ala161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919741G>C | CA497380334 | MC1R | c.483G>C (p.Ala161=) | |
16 | g.89919741G= | CA2242009579 | MC1R | c.483G= (p.Ala161=) | |
16 | g.89919741G>T | CA497380336 | MC1R | c.483G>T (p.Ala161=) | gnomAD v4 |
16 | g.89919746_89919758del | CA624455294 | MC1R | c.488_500del (p.Arg163ProfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919742C>A | CA497380338 | MC1R | c.484C>A (p.Arg162=) | |
16 | g.89919742C= | CA2242009580 | MC1R | c.484C= (p.Arg162=) | |
16 | g.89919742C>G | CA8255614 | MC1R | c.484C>G (p.Arg162Gly) | dbSNP ExAC |
16 | g.89919742C>T | CA8255615 | MC1R | c.484C>T (p.Arg162Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919743G>A | CA8255616 | MC1R | c.485G>A (p.Arg162Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919743G>C | CA397461510 | MC1R | c.485G>C (p.Arg162Pro) | |
16 | g.89919743G= | CA2242009581 | MC1R | c.485G= (p.Arg162=) | |
16 | g.89919743G>T | CA397461514 | MC1R | c.485G>T (p.Arg162Leu) | gnomAD v4 |
16 | g.89919745_89919765del | CA2635066374 | MC1R | c.487_507del (p.Arg163_Trp169del) | gnomAD v4 |
16 | g.89919744G>A | CA497380345 | MC1R | c.486G>A (p.Arg162=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919744G>C | CA497380348 | MC1R | c.486G>C (p.Arg162=) | |
16 | g.89919744G= | CA2242009582 | MC1R | c.486G= (p.Arg162=) | |
16 | g.89919744G>T | CA497380347 | MC1R | c.486G>T (p.Arg162=) | gnomAD v4 |
16 | g.89919745C>A | CA497380350 | MC1R | c.487C>A (p.Arg163=) | gnomAD v4 |
16 | g.89919745C= | CA2242009583 | MC1R | c.487C= (p.Arg163=) | |
16 | g.89919745C>G | CA8255617 | MC1R | c.487C>G (p.Arg163Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919745C>T | CA8255618 | MC1R | c.487C>T (p.Arg163Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919745_89919756delinsCGAGCCGTTGCG | CA2242009584 | MC1R | c.487_498delinsCGAGCCGTTGCG (p.Arg163=) | |
16 | g.89919746G>A | CA8255619 | MC1R | c.488G>A (p.Arg163Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919746G>C | CA397461518 | MC1R | c.488G>C (p.Arg163Pro) | dbSNP |
16 | g.89919746G= | CA2242009586 | MC1R | c.488G= (p.Arg163=) | |
16 | g.89919746G>T | CA397461521 | MC1R | c.488G>T (p.Arg163Leu) | gnomAD v4 |
16 | g.89919747_89919757del | CA2242009585 | MC1R | c.489_499del (p.Ala164HisfsTer?) | dbSNP gnomAD v4 |
16 | g.89919747A>C | CA497380361 | MC1R | c.489A>C (p.Arg163=) | |
16 | g.89919747A>G | CA497380362 | MC1R | c.489A>G (p.Arg163=) | |
16 | g.89919747A>T | CA497380364 | MC1R | c.489A>T (p.Arg163=) | |
16 | g.89919748G>A | CA8255620 | MC1R | c.490G>A (p.Ala164Thr) | dbSNP ExAC gnomAD v2 |
16 | g.89919748G>C | CA397461527 | MC1R | c.490G>C (p.Ala164Pro) | |
16 | g.89919748G= | CA2242009587 | MC1R | c.490G= (p.Ala164=) | |
16 | g.89919748G>T | CA397461524 | MC1R | c.490G>T (p.Ala164Ser) | gnomAD v4 |
16 | g.89919749C>A | CA397461529 | MC1R | c.491C>A (p.Ala164Asp) | gnomAD v4 |
16 | g.89919749C>G | CA397461531 | MC1R | c.491C>G (p.Ala164Gly) | ClinVar |
16 | g.89919749C>T | CA397461532 | MC1R | c.491C>T (p.Ala164Val) | gnomAD v4 |
16 | g.89919750C>A | CA497380378 | MC1R | c.492C>A (p.Ala164=) | gnomAD v4 |
16 | g.89919750C= | CA2242009588 | MC1R | c.492C= (p.Ala164=) | |
16 | g.89919750C>G | CA497380382 | MC1R | c.492C>G (p.Ala164=) | gnomAD v4 |
16 | g.89919750C>T | CA8255621 | MC1R | c.492C>T (p.Ala164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919751G>A | CA8255622 | MC1R | c.493G>A (p.Val165Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919751G>C | CA397461538 | MC1R | c.493G>C (p.Val165Leu) | dbSNP |
16 | g.89919751G= | CA2242009589 | MC1R | c.493G= (p.Val165=) | |
16 | g.89919751G>T | CA397461539 | MC1R | c.493G>T (p.Val165Phe) | gnomAD v4 |
16 | g.89919752T>A | CA397461542 | MC1R | c.494T>A (p.Val165Asp) | |
16 | g.89919752T>C | CA8255623 | MC1R | c.494T>C (p.Val165Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919752T>G | CA397461547 | MC1R | c.494T>G (p.Val165Gly) |