Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919736C>A | CA497380805 | MC1R | c.478C>A (p.Arg160=) | gnomAD v4 |
16 | g.89919736C= | CA2242009574 | MC1R | c.478C= (p.Arg160=) | |
16 | g.89919736C>G | CA397460945 | MC1R | c.478C>G (p.Arg160Gly) | |
16 | g.89919736C>T | CA123867 | MC1R | c.478C>T (p.Arg160Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919737G>A | CA8255609 | MC1R | c.479G>A (p.Arg160Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919737G>C | CA397460949 | MC1R | c.479G>C (p.Arg160Pro) | gnomAD v4 |
16 | g.89919737G= | CA2242009575 | MC1R | c.479G= (p.Arg160=) | |
16 | g.89919737G>T | CA397460951 | MC1R | c.479G>T (p.Arg160Leu) | gnomAD v4 |
16 | g.89919739dup | CA2695224047 | MC1R | c.481dup (p.Ala161GlyfsTer?) | |
16 | g.89919738G>A | CA8255610 | MC1R | c.480G>A (p.Arg160=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919738G>C | CA497380815 | MC1R | c.480G>C (p.Arg160=) | |
16 | g.89919738G= | CA2242009576 | MC1R | c.480G= (p.Arg160=) | |
16 | g.89919738G>T | CA286607482 | MC1R | c.480G>T (p.Arg160=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919739G>A | CA397460954 | MC1R | c.481G>A (p.Ala161Thr) | |
16 | g.89919739G>C | CA397460955 | MC1R | c.481G>C (p.Ala161Pro) | |
16 | g.89919739G>T | CA397460957 | MC1R | c.481G>T (p.Ala161Ser) | gnomAD v4 |
16 | g.89919740C>A | CA8255611 | MC1R | c.482C>A (p.Ala161Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919740C= | CA2242009577 | MC1R | c.482C= (p.Ala161=) | |
16 | g.89919740C>G | CA397461500 | MC1R | c.482C>G (p.Ala161Gly) | |
16 | g.89919740C>T | CA8255612 | MC1R | c.482C>T (p.Ala161Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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=) |