Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919317C>A | CA397459124 | MC1R | c.59C>A (p.Ala20Asp) | |
16 | g.89919317C= | CA2242009294 | MC1R | c.59C= (p.Ala20=) | |
16 | g.89919317C>G | CA8255472 | MC1R | c.59C>G (p.Ala20Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919317C>T | CA397459122 | MC1R | c.59C>T (p.Ala20Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919318C>A | CA497380580 | MC1R | c.60C>A (p.Ala20=) | |
16 | g.89919318C>G | CA497380581 | MC1R | c.60C>G (p.Ala20=) | |
16 | g.89919318C>T | CA497380582 | MC1R | c.60C>T (p.Ala20=) | |
16 | g.89919319A>C | CA397459135 | MC1R | c.61A>C (p.Ile21Leu) | |
16 | g.89919319A>G | CA397459128 | MC1R | c.61A>G (p.Ile21Val) | dbSNP gnomAD v4 |
16 | g.89919319A>T | CA397459133 | MC1R | c.61A>T (p.Ile21Phe) | |
16 | g.89919320del | CA2576103978 | MC1R | c.62del (p.Ile21ThrfsTer?) | |
16 | g.89919320T>A | CA397459137 | MC1R | c.62T>A (p.Ile21Asn) | |
16 | g.89919320T>C | CA397459139 | MC1R | c.62T>C (p.Ile21Thr) | |
16 | g.89919320T>G | CA397459140 | MC1R | c.62T>G (p.Ile21Ser) | |
16 | g.89919321C>A | CA497380584 | MC1R | c.63C>A (p.Ile21=) | |
16 | g.89919321C>G | CA397459142 | MC1R | c.63C>G (p.Ile21Met) | |
16 | g.89919321C>T | CA497380586 | MC1R | c.63C>T (p.Ile21=) | ClinVar dbSNP |
16 | g.89919322C>A | CA397459145 | MC1R | c.64C>A (p.Pro22Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919322C= | CA2242009295 | MC1R | c.64C= (p.Pro22=) | |
16 | g.89919322C>G | CA397459148 | MC1R | c.64C>G (p.Pro22Ala) | |
16 | g.89919322C>T | CA397459149 | MC1R | c.64C>T (p.Pro22Ser) | |
16 | g.89919323C>A | CA397459151 | MC1R | c.65C>A (p.Pro22His) | |
16 | g.89919323C= | CA2242009297 | MC1R | c.65C= (p.Pro22=) | |
16 | g.89919323C>G | CA397459153 | MC1R | c.65C>G (p.Pro22Arg) | |
16 | g.89919323C>T | CA397459155 | MC1R | c.65C>T (p.Pro22Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919323_89919344delinsCCCAGCTGGGGCTGGCTGCCAA | CA2242009296 | MC1R | c.65_86delinsCCCAGCTGGGGCTGGCTGCCAA (p.Pro22=) | |
16 | g.89919324C>A | CA497380595 | MC1R | c.66C>A (p.Pro22=) | |
16 | g.89919324C= | CA2242009298 | MC1R | c.66C= (p.Pro22=) | |
16 | g.89919324C>G | CA497380599 | MC1R | c.66C>G (p.Pro22=) | |
16 | g.89919324C>T | CA8255473 | MC1R | c.66C>T (p.Pro22=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919328_89919348del | CA624455298 | MC1R | c.70_90del (p.Leu24_Gln30del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919325C>A | CA397459160 | MC1R | c.67C>A (p.Gln23Lys) | |
16 | g.89919325C= | CA2242009299 | MC1R | c.67C= (p.Gln23=) | |
16 | g.89919325C>G | CA397459159 | MC1R | c.67C>G (p.Gln23Glu) | |
16 | g.89919325C>T | CA8255474 | MC1R | c.67C>T (p.Gln23Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919326_89919328del | CA2635064789 | MC1R | c.68_70del (p.Gln23del) | gnomAD v4 |
16 | g.89919326A= | CA2242009300 | MC1R | c.68A= (p.Gln23=) | |
16 | g.89919326A>C | CA397459163 | MC1R | c.68A>C (p.Gln23Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919326A>G | CA397459165 | MC1R | c.68A>G (p.Gln23Arg) | |
16 | g.89919326A>T | CA397459169 | MC1R | c.68A>T (p.Gln23Leu) | |
16 | g.89919327G>A | CA497380604 | MC1R | c.69G>A (p.Gln23=) | gnomAD v3 gnomAD v4 |
16 | g.89919327G>C | CA397459170 | MC1R | c.69G>C (p.Gln23His) | gnomAD v4 |
16 | g.89919327G>T | CA397459173 | MC1R | c.69G>T (p.Gln23His) | gnomAD v4 |
16 | g.89919328C>A | CA397459176 | MC1R | c.70C>A (p.Leu24Met) | |
16 | g.89919328C>G | CA397459180 | MC1R | c.70C>G (p.Leu24Val) | |
16 | g.89919328C>T | CA497380605 | MC1R | c.70C>T (p.Leu24=) | |
16 | g.89919329T>A | CA397459183 | MC1R | c.71T>A (p.Leu24Gln) | |
16 | g.89919329T>C | CA397459184 | MC1R | c.71T>C (p.Leu24Pro) | |
16 | g.89919329T>G | CA397459185 | MC1R | c.71T>G (p.Leu24Arg) | gnomAD v4 |
16 | g.89919330G>A | CA497380608 | MC1R | c.72G>A (p.Leu24=) |