| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.13885200C>A | CA401995490 | MC2R | c.319G>T (p.Asp107Tyr) | gnomAD v4 |
| 18 | g.13885200C= | CA2285919464 | MC2R | c.319G= (p.Asp107=) | |
| 18 | g.13885200C>G | CA401995491 | MC2R | c.319G>C (p.Asp107His) | |
| 18 | g.13885200C>T | CA116121 | MC2R | c.319G>A (p.Asp107Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13885201G>A | CA8902509 | MC2R | c.318C>T (p.Ile106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13885201G>C | CA401995492 | MC2R | c.318C>G (p.Ile106Met) | |
| 18 | g.13885201G= | CA2285919465 | MC2R | c.318C= (p.Ile106=) | |
| 18 | g.13885201G>T | CA503248562 | MC2R | c.318C>A (p.Ile106=) | COSMIC |
| 18 | g.13885202A>C | CA401995493 | MC2R | c.317T>G (p.Ile106Ser) | |
| 18 | g.13885202A>G | CA401995495 | MC2R | c.317T>C (p.Ile106Thr) | |
| 18 | g.13885202A>T | CA401995494 | MC2R | c.317T>A (p.Ile106Asn) | |
| 18 | g.13885203T>A | CA401995496 | MC2R | c.316A>T (p.Ile106Phe) | |
| 18 | g.13885203T>C | CA401995498 | MC2R | c.316A>G (p.Ile106Val) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885203T>G | CA401995497 | MC2R | c.316A>C (p.Ile106Leu) | |
| 18 | g.13885203T= | CA2285919466 | MC2R | c.316A= (p.Ile106=) | |
| 18 | g.13885204G>A | CA8902510 | MC2R | c.315C>T (p.Ile105=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885204G>C | CA401995499 | MC2R | c.315C>G (p.Ile105Met) | |
| 18 | g.13885204G= | CA2285919467 | MC2R | c.315C= (p.Ile105=) | |
| 18 | g.13885204G>T | CA503248568 | MC2R | c.315C>A (p.Ile105=) | dbSNP gnomAD v4 |
| 18 | g.13885205A= | CA2285919468 | MC2R | c.314T= (p.Ile105=) | |
| 18 | g.13885205A>C | CA401995500 | MC2R | c.314T>G (p.Ile105Ser) | |
| 18 | g.13885205A>G | CA401995501 | MC2R | c.314T>C (p.Ile105Thr) | dbSNP gnomAD v4 |
| 18 | g.13885205A>T | CA401995502 | MC2R | c.314T>A (p.Ile105Asn) | |
| 18 | g.13885206T>A | CA401995503 | MC2R | c.313A>T (p.Ile105Phe) | |
| 18 | g.13885206T>C | CA8902511 | MC2R | c.313A>G (p.Ile105Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885206T>G | CA401995504 | MC2R | c.313A>C (p.Ile105Leu) | |
| 18 | g.13885206T= | CA2285919469 | MC2R | c.313A= (p.Ile105=) | |
| 18 | g.13885207G>A | CA503248573 | MC2R | c.312C>T (p.Asp104=) | gnomAD v4 |
| 18 | g.13885207G>C | CA401995505 | MC2R | c.312C>G (p.Asp104Glu) | |
| 18 | g.13885207G>T | CA401995506 | MC2R | c.312C>A (p.Asp104Glu) | |
| 18 | g.13885208T>A | CA401995507 | MC2R | c.311A>T (p.Asp104Val) | |
| 18 | g.13885208T>C | CA401995508 | MC2R | c.311A>G (p.Asp104Gly) | |
| 18 | g.13885208T>G | CA401995509 | MC2R | c.311A>C (p.Asp104Ala) | |
| 18 | g.13885209C>A | CA401995510 | MC2R | c.310G>T (p.Asp104Tyr) | |
| 18 | g.13885209C>G | CA401995511 | MC2R | c.310G>C (p.Asp104His) | |
| 18 | g.13885209C>T | CA401995512 | MC2R | c.310G>A (p.Asp104Asn) | COSMIC |
| 18 | g.13885210A= | CA2285919470 | MC2R | c.309T= (p.Asp103=) | |
| 18 | g.13885210A>C | CA401995513 | MC2R | c.309T>G (p.Asp103Glu) | |
| 18 | g.13885210A>G | CA503248578 | MC2R | c.309T>C (p.Asp103=) | |
| 18 | g.13885210A>T | CA296828868 | MC2R | c.309T>A (p.Asp103Glu) | dbSNP |
| 18 | g.13885211T>A | CA401995514 | MC2R | c.308A>T (p.Asp103Val) | |
| 18 | g.13885211T>C | CA401995515 | MC2R | c.308A>G (p.Asp103Gly) | gnomAD v4 |
| 18 | g.13885211T>G | CA401995516 | MC2R | c.308A>C (p.Asp103Ala) | |
| 18 | g.13885212C>A | CA401995517 | MC2R | c.307G>T (p.Asp103Tyr) | |
| 18 | g.13885212C= | CA2285919471 | MC2R | c.307G= (p.Asp103=) | |
| 18 | g.13885212C>G | CA401995518 | MC2R | c.307G>C (p.Asp103His) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885212C>T | CA8902512 | MC2R | c.307G>A (p.Asp103Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885213G>A | CA8902513 | MC2R | c.306C>T (p.Ala102=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885213G>C | CA503248585 | MC2R | c.306C>G (p.Ala102=) | |
| 18 | g.13885213G= | CA2285919472 | MC2R | c.306C= (p.Ala102=) |