| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89919683G>A | CA8255589 | MC1R | c.425G>A (p.Arg142His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89919683G>C | CA397460717 | MC1R | c.425G>C (p.Arg142Pro) | |
| 16 | g.89919683G= | CA2242009527 | MC1R | c.425G= (p.Arg142=) | |
| 16 | g.89919683G>T | CA397460720 | MC1R | c.425G>T (p.Arg142Leu) | gnomAD v4 |
| 16 | g.89919684C>A | CA497380660 | MC1R | c.426C>A (p.Arg142=) | |
| 16 | g.89919684C= | CA2242009528 | MC1R | c.426C= (p.Arg142=) | |
| 16 | g.89919684C>G | CA8255590 | MC1R | c.426C>G (p.Arg142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89919684C>T | CA497380666 | MC1R | c.426C>T (p.Arg142=) | |
| 16 | g.89919685T>A | CA397460724 | MC1R | c.427T>A (p.Tyr143Asn) | |
| 16 | g.89919685T>C | CA397460726 | MC1R | c.427T>C (p.Tyr143His) | |
| 16 | g.89919685T>G | CA397460729 | MC1R | c.427T>G (p.Tyr143Asp) | gnomAD v4 |
| 16 | g.89919686A= | CA2242009529 | MC1R | c.428A= (p.Tyr143=) | |
| 16 | g.89919686A>C | CA397460730 | MC1R | c.428A>C (p.Tyr143Ser) | |
| 16 | g.89919686A>G | CA397460731 | MC1R | c.428A>G (p.Tyr143Cys) | dbSNP gnomAD v2 |
| 16 | g.89919686A>T | CA397460732 | MC1R | c.428A>T (p.Tyr143Phe) | |
| 16 | g.89919687C>A | CA397460734 | MC1R | c.429C>A (p.Tyr143Ter) | |
| 16 | g.89919687C= | CA2242009530 | MC1R | c.429C= (p.Tyr143=) | |
| 16 | g.89919687C>G | CA397460735 | MC1R | c.429C>G (p.Tyr143Ter) | |
| 16 | g.89919687C>T | CA497380673 | MC1R | c.429C>T (p.Tyr143=) | dbSNP gnomAD v4 |
| 16 | g.89919688A= | CA2242009531 | MC1R | c.430A= (p.Ile144=) | |
| 16 | g.89919688A>C | CA397460741 | MC1R | c.430A>C (p.Ile144Leu) | |
| 16 | g.89919688A>G | CA397460738 | MC1R | c.430A>G (p.Ile144Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89919688A>T | CA397460736 | MC1R | c.430A>T (p.Ile144Phe) | |
| 16 | g.89919688_89919690delinsATC | CA2242009532 | MC1R | c.430_432delinsATC (p.Ile144=) | |
| 16 | g.89919689T>A | CA397460744 | MC1R | c.431T>A (p.Ile144Asn) | |
| 16 | g.89919689T>C | CA397460748 | MC1R | c.431T>C (p.Ile144Thr) | |
| 16 | g.89919689T>G | CA397460746 | MC1R | c.431T>G (p.Ile144Ser) | |
| 16 | g.89919691_89919692del | CA2242009533 | MC1R | c.433_434del (p.Ser145HisfsTer?) | dbSNP gnomAD v4 |
| 16 | g.89919690C>A | CA497380682 | MC1R | c.432C>A (p.Ile144=) | gnomAD v4 |
| 16 | g.89919690C= | CA2242009534 | MC1R | c.432C= (p.Ile144=) | |
| 16 | g.89919690C>G | CA397460750 | MC1R | c.432C>G (p.Ile144Met) | |
| 16 | g.89919690C>T | CA497380680 | MC1R | c.432C>T (p.Ile144=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89919691T>A | CA397460757 | MC1R | c.433T>A (p.Ser145Thr) | |
| 16 | g.89919691T>C | CA397460752 | MC1R | c.433T>C (p.Ser145Pro) | |
| 16 | g.89919691T>G | CA397460755 | MC1R | c.433T>G (p.Ser145Ala) | |
| 16 | g.89919691T= | CA2242009535 | MC1R | c.433T= (p.Ser145=) | |
| 16 | g.89919692C>A | CA397460760 | MC1R | c.434C>A (p.Ser145Tyr) | gnomAD v4 |
| 16 | g.89919692C= | CA2242009537 | MC1R | c.434C= (p.Ser145=) | |
| 16 | g.89919692C>G | CA397460763 | MC1R | c.434C>G (p.Ser145Cys) | gnomAD v4 |
| 16 | g.89919692C>T | CA397460765 | MC1R | c.434C>T (p.Ser145Phe) | dbSNP gnomAD v4 |
| 16 | g.89919693dup | CA2242009536 | MC1R | c.435dup (p.Ile146HisfsTer?) | dbSNP gnomAD v4 |
| 16 | g.89919692_89919695delinsCCAT | CA2242009538 | MC1R | c.434_437delinsCCAT (p.Ser145=) | |
| 16 | g.89919693C>A | CA497380688 | MC1R | c.435C>A (p.Ser145=) | gnomAD v4 |
| 16 | g.89919693C= | CA2242009539 | MC1R | c.435C= (p.Ser145=) | |
| 16 | g.89919693C>G | CA497380689 | MC1R | c.435C>G (p.Ser145=) | |
| 16 | g.89919693C>T | CA286607468 | MC1R | c.435C>T (p.Ser145=) | dbSNP gnomAD v4 |
| 16 | g.89919694_89919696del | CA980491112 | MC1R | c.436_438del (p.Ile146del) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89919694A>C | CA397460770 | MC1R | c.436A>C (p.Ile146Leu) | gnomAD v4 |
| 16 | g.89919694A>G | CA397460773 | MC1R | c.436A>G (p.Ile146Val) | gnomAD v4 |
| 16 | g.89919694A>T | CA397460775 | MC1R | c.436A>T (p.Ile146Phe) |