| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.13885298C>A | CA116116 | MC2R | c.221G>T (p.Ser74Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885298C= | CA2285919512 | MC2R | c.221G= (p.Ser74=) | |
| 18 | g.13885298C>G | CA401995700 | MC2R | c.221G>C (p.Ser74Thr) | |
| 18 | g.13885298C>T | CA401995701 | MC2R | c.221G>A (p.Ser74Asn) | |
| 18 | g.13885299T>A | CA401995702 | MC2R | c.220A>T (p.Ser74Cys) | |
| 18 | g.13885299T>C | CA401995703 | MC2R | c.220A>G (p.Ser74Gly) | |
| 18 | g.13885299T>G | CA401995704 | MC2R | c.220A>C (p.Ser74Arg) | |
| 18 | g.13885300G>A | CA503248269 | MC2R | c.219C>T (p.Gly73=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885300G>C | CA503248271 | MC2R | c.219C>G (p.Gly73=) | |
| 18 | g.13885300G= | CA2285919513 | MC2R | c.219C= (p.Gly73=) | |
| 18 | g.13885300G>T | CA503248270 | MC2R | c.219C>A (p.Gly73=) | gnomAD v4 |
| 18 | g.13885301C>A | CA401995707 | MC2R | c.218G>T (p.Gly73Val) | |
| 18 | g.13885301C= | CA2285919514 | MC2R | c.218G= (p.Gly73=) | |
| 18 | g.13885301C>G | CA401995706 | MC2R | c.218G>C (p.Gly73Ala) | |
| 18 | g.13885301C>T | CA401995705 | MC2R | c.218G>A (p.Gly73Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885302C>A | CA401995708 | MC2R | c.217G>T (p.Gly73Cys) | |
| 18 | g.13885302C>G | CA401995709 | MC2R | c.217G>C (p.Gly73Arg) | |
| 18 | g.13885302C>T | CA401995710 | MC2R | c.217G>A (p.Gly73Ser) | |
| 18 | g.13885303C>A | CA503248277 | MC2R | c.216G>T (p.Leu72=) | |
| 18 | g.13885303C= | CA2285919515 | MC2R | c.216G= (p.Leu72=) | |
| 18 | g.13885303C>G | CA503248278 | MC2R | c.216G>C (p.Leu72=) | |
| 18 | g.13885303C>T | CA503248279 | MC2R | c.216G>A (p.Leu72=) | dbSNP gnomAD v4 |
| 18 | g.13885304A>C | CA401995711 | MC2R | c.215T>G (p.Leu72Arg) | |
| 18 | g.13885304A>G | CA401995712 | MC2R | c.215T>C (p.Leu72Pro) | |
| 18 | g.13885304A>T | CA401995713 | MC2R | c.215T>A (p.Leu72Gln) | |
| 18 | g.13885305G>A | CA8902530 | MC2R | c.214C>T (p.Leu72=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885305G>C | CA401995714 | MC2R | c.214C>G (p.Leu72Val) | |
| 18 | g.13885305G= | CA2285919516 | MC2R | c.214C= (p.Leu72=) | |
| 18 | g.13885305G>T | CA401995715 | MC2R | c.214C>A (p.Leu72Met) | |
| 18 | g.13885306C>A | CA401995716 | MC2R | c.213G>T (p.Met71Ile) | gnomAD v4 |
| 18 | g.13885306C= | CA2285919517 | MC2R | c.213G= (p.Met71=) | |
| 18 | g.13885306C>G | CA401995717 | MC2R | c.213G>C (p.Met71Ile) | |
| 18 | g.13885306C>T | CA401995718 | MC2R | c.213G>A (p.Met71Ile) | dbSNP |
| 18 | g.13885307A>C | CA401995721 | MC2R | c.212T>G (p.Met71Arg) | |
| 18 | g.13885307A>G | CA401995720 | MC2R | c.212T>C (p.Met71Thr) | gnomAD v4 |
| 18 | g.13885307A>T | CA401995719 | MC2R | c.212T>A (p.Met71Lys) | |
| 18 | g.13885308T>A | CA401995722 | MC2R | c.211A>T (p.Met71Leu) | |
| 18 | g.13885308T>C | CA401995724 | MC2R | c.211A>G (p.Met71Val) | |
| 18 | g.13885308T>G | CA401995723 | MC2R | c.211A>C (p.Met71Leu) | dbSNP gnomAD v4 |
| 18 | g.13885308T= | CA2285919518 | MC2R | c.211A= (p.Met71=) | |
| 18 | g.13885309A>C | CA401995725 | MC2R | c.210T>G (p.Asp70Glu) | |
| 18 | g.13885309A>G | CA503248286 | MC2R | c.210T>C (p.Asp70=) | |
| 18 | g.13885309A>T | CA401995726 | MC2R | c.210T>A (p.Asp70Glu) | |
| 18 | g.13885310T>A | CA401995727 | MC2R | c.209A>T (p.Asp70Val) | |
| 18 | g.13885310T>C | CA401995729 | MC2R | c.209A>G (p.Asp70Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885310T>G | CA401995728 | MC2R | c.209A>C (p.Asp70Ala) | |
| 18 | g.13885310T= | CA2285919519 | MC2R | c.209A= (p.Asp70=) | |
| 18 | g.13885311C>A | CA401995730 | MC2R | c.208G>T (p.Asp70Tyr) | dbSNP |
| 18 | g.13885311C= | CA2285919520 | MC2R | c.208G= (p.Asp70=) | |
| 18 | g.13885311C>G | CA8902531 | MC2R | c.208G>C (p.Asp70His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |