| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.13885137G>A | CA116120 | MC2R | c.382C>T (p.Arg128Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885137G>C | CA401995365 | MC2R | c.382C>G (p.Arg128Gly) | |
| 18 | g.13885137G= | CA2285919439 | MC2R | c.382C= (p.Arg128=) | |
| 18 | g.13885137G>T | CA401995366 | MC2R | c.382C>A (p.Arg128Ser) | |
| 18 | g.13885138G>A | CA503248418 | MC2R | c.381C>T (p.Asp127=) | |
| 18 | g.13885138G>C | CA401995367 | MC2R | c.381C>G (p.Asp127Glu) | |
| 18 | g.13885138G>T | CA401995368 | MC2R | c.381C>A (p.Asp127Glu) | |
| 18 | g.13885139T>A | CA401995371 | MC2R | c.380A>T (p.Asp127Val) | |
| 18 | g.13885139T>C | CA401995370 | MC2R | c.380A>G (p.Asp127Gly) | |
| 18 | g.13885139T>G | CA401995369 | MC2R | c.380A>C (p.Asp127Ala) | |
| 18 | g.13885140C>A | CA401995372 | MC2R | c.379G>T (p.Asp127Tyr) | |
| 18 | g.13885140C= | CA2285919440 | MC2R | c.379G= (p.Asp127=) | |
| 18 | g.13885140C>G | CA401995373 | MC2R | c.379G>C (p.Asp127His) | |
| 18 | g.13885140C>T | CA401995374 | MC2R | c.379G>A (p.Asp127Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885141C>A | CA8902497 | MC2R | c.378G>T (p.Ala126=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885141C= | CA2285919441 | MC2R | c.378G= (p.Ala126=) | |
| 18 | g.13885141C>G | CA503248421 | MC2R | c.378G>C (p.Ala126=) | dbSNP |
| 18 | g.13885141C>T | CA8902498 | MC2R | c.378G>A (p.Ala126=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13885142G>A | CA8902499 | MC2R | c.377C>T (p.Ala126Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885142G>C | CA401995375 | MC2R | c.377C>G (p.Ala126Gly) | |
| 18 | g.13885142G= | CA2285919442 | MC2R | c.377C= (p.Ala126=) | |
| 18 | g.13885142G>T | CA401995376 | MC2R | c.377C>A (p.Ala126Glu) | dbSNP |
| 18 | g.13885143C>A | CA116125 | MC2R | c.376G>T (p.Ala126Ser) | ClinVar dbSNP |
| 18 | g.13885143C= | CA2285919443 | MC2R | c.376G= (p.Ala126=) | |
| 18 | g.13885143C>G | CA401995377 | MC2R | c.376G>C (p.Ala126Pro) | |
| 18 | g.13885143C>T | CA8902500 | MC2R | c.376G>A (p.Ala126Thr) | dbSNP ExAC gnomAD v2 |
| 18 | g.13885144A= | CA2285919444 | MC2R | c.375T= (p.Ala125=) | |
| 18 | g.13885144A>C | CA503248426 | MC2R | c.375T>G (p.Ala125=) | gnomAD v4 |
| 18 | g.13885144A>G | CA8902501 | MC2R | c.375T>C (p.Ala125=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885144A>T | CA503248431 | MC2R | c.375T>A (p.Ala125=) | |
| 18 | g.13885145G>A | CA401995380 | MC2R | c.374C>T (p.Ala125Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885145G>C | CA401995379 | MC2R | c.374C>G (p.Ala125Gly) | |
| 18 | g.13885145G= | CA2285919445 | MC2R | c.374C= (p.Ala125=) | |
| 18 | g.13885145G>T | CA401995378 | MC2R | c.374C>A (p.Ala125Asp) | |
| 18 | g.13885146C>A | CA401995381 | MC2R | c.373G>T (p.Ala125Ser) | |
| 18 | g.13885146C= | CA2285919446 | MC2R | c.373G= (p.Ala125=) | |
| 18 | g.13885146C>G | CA401995382 | MC2R | c.373G>C (p.Ala125Pro) | |
| 18 | g.13885146C>T | CA296828852 | MC2R | c.373G>A (p.Ala125Thr) | dbSNP |
| 18 | g.13885147A>C | CA401995383 | MC2R | c.372T>G (p.Ile124Met) | |
| 18 | g.13885147A>G | CA503248436 | MC2R | c.372T>C (p.Ile124=) | |
| 18 | g.13885147A>T | CA503248437 | MC2R | c.372T>A (p.Ile124=) | |
| 18 | g.13885148A>C | CA401995384 | MC2R | c.371T>G (p.Ile124Ser) | |
| 18 | g.13885148A>G | CA401995385 | MC2R | c.371T>C (p.Ile124Thr) | |
| 18 | g.13885148A>T | CA401995386 | MC2R | c.371T>A (p.Ile124Asn) | |
| 18 | g.13885149T>A | CA401995387 | MC2R | c.370A>T (p.Ile124Phe) c.370A>T | |
| 18 | g.13885149T>C | CA401995388 | MC2R | c.370A>G (p.Ile124Val) c.370A>G | |
| 18 | g.13885149T>G | CA401995389 | MC2R | c.370A>C (p.Ile124Leu) c.370A>C | |
| 18 | g.13885149_13885151delinsTCA | CA2285919447 | MC2R | c.368_370delinsTGA (p.Val123=) | |
| 18 | g.13885150C>A | CA503248441 | MC2R | c.369G>T (p.Val123=) | gnomAD v4 |
| 18 | g.13885150C>G | CA503248443 | MC2R | c.369G>C (p.Val123=) |