| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89919636C>A | CA397460510 | MC1R | c.378C>A (p.Ser126Arg) | gnomAD v4 |
| 16 | g.89919636C= | CA2242009497 | MC1R | c.378C= (p.Ser126=) | |
| 16 | g.89919636C>G | CA397460512 | MC1R | c.378C>G (p.Ser126Arg) | |
| 16 | g.89919636C>T | CA497380567 | MC1R | c.378C>T (p.Ser126=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89919637T>A | CA397460514 | MC1R | c.379T>A (p.Ser127Thr) | |
| 16 | g.89919637T>C | CA397460515 | MC1R | c.379T>C (p.Ser127Pro) | |
| 16 | g.89919637T>G | CA397460517 | MC1R | c.379T>G (p.Ser127Ala) | |
| 16 | g.89919638C>A | CA397460520 | MC1R | c.380C>A (p.Ser127Tyr) | |
| 16 | g.89919638C= | CA2242009498 | MC1R | c.380C= (p.Ser127=) | |
| 16 | g.89919638C>G | CA397460522 | MC1R | c.380C>G (p.Ser127Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89919638C>T | CA286607464 | MC1R | c.380C>T (p.Ser127Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89919639C>A | CA497380579 | MC1R | c.381C>A (p.Ser127=) | gnomAD v4 |
| 16 | g.89919639C>G | CA497380576 | MC1R | c.381C>G (p.Ser127=) | |
| 16 | g.89919639C>T | CA497380578 | MC1R | c.381C>T (p.Ser127=) | |
| 16 | g.89919640A= | CA2242009499 | MC1R | c.382A= (p.Met128=) | |
| 16 | g.89919640A>C | CA397460524 | MC1R | c.382A>C (p.Met128Leu) | |
| 16 | g.89919640A>G | CA397460525 | MC1R | c.382A>G (p.Met128Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89919640A>T | CA397460527 | MC1R | c.382A>T (p.Met128Leu) | |
| 16 | g.89919641T>A | CA397460529 | MC1R | c.383T>A (p.Met128Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89919641T>C | CA8255575 | MC1R | c.383T>C (p.Met128Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.89919641T>G | CA397460531 | MC1R | c.383T>G (p.Met128Arg) | |
| 16 | g.89919641T= | CA2242009500 | MC1R | c.383T= (p.Met128=) | |
| 16 | g.89919642G>A | CA397460536 | MC1R | c.384G>A (p.Met128Ile) | |
| 16 | g.89919642G>C | CA397460535 | MC1R | c.384G>C (p.Met128Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89919642G= | CA2242009501 | MC1R | c.384G= (p.Met128=) | |
| 16 | g.89919642G>T | CA397460533 | MC1R | c.384G>T (p.Met128Ile) | gnomAD v4 |
| 16 | g.89919643C>A | CA397460538 | MC1R | c.385C>A (p.Leu129Met) | |
| 16 | g.89919643C= | CA2242009502 | MC1R | c.385C= (p.Leu129=) | |
| 16 | g.89919643C>G | CA397460539 | MC1R | c.385C>G (p.Leu129Val) | |
| 16 | g.89919643C>T | CA497380589 | MC1R | c.385C>T (p.Leu129=) | dbSNP gnomAD v4 |
| 16 | g.89919644T>A | CA397460542 | MC1R | c.386T>A (p.Leu129Gln) | |
| 16 | g.89919644T>C | CA397460543 | MC1R | c.386T>C (p.Leu129Pro) | gnomAD v4 |
| 16 | g.89919644T>G | CA397460545 | MC1R | c.386T>G (p.Leu129Arg) | |
| 16 | g.89919645G>A | CA497380592 | MC1R | c.387G>A (p.Leu129=) | |
| 16 | g.89919645G>C | CA497380593 | MC1R | c.387G>C (p.Leu129=) | |
| 16 | g.89919645G>T | CA497380594 | MC1R | c.387G>T (p.Leu129=) | |
| 16 | g.89919646T>A | CA397460546 | MC1R | c.388T>A (p.Ser130Thr) | |
| 16 | g.89919646T>C | CA397460547 | MC1R | c.388T>C (p.Ser130Pro) | |
| 16 | g.89919646T>G | CA397460548 | MC1R | c.388T>G (p.Ser130Ala) | |
| 16 | g.89919647C>A | CA397460549 | MC1R | c.389C>A (p.Ser130Tyr) | |
| 16 | g.89919647C= | CA2242009503 | MC1R | c.389C= (p.Ser130=) | |
| 16 | g.89919647C>G | CA397460550 | MC1R | c.389C>G (p.Ser130Cys) | ClinVar dbSNP |
| 16 | g.89919647C>T | CA286607465 | MC1R | c.389C>T (p.Ser130Phe) | dbSNP |
| 16 | g.89919648C>A | CA497380596 | MC1R | c.390C>A (p.Ser130=) | |
| 16 | g.89919648C= | CA2242009504 | MC1R | c.390C= (p.Ser130=) | |
| 16 | g.89919648C>G | CA497380597 | MC1R | c.390C>G (p.Ser130=) | |
| 16 | g.89919648C>T | CA497380598 | MC1R | c.390C>T (p.Ser130=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89919649A= | CA2242009505 | MC1R | c.391A= (p.Ser131=) | |
| 16 | g.89919649A>C | CA397460552 | MC1R | c.391A>C (p.Ser131Arg) | |
| 16 | g.89919649A>G | CA397460553 | MC1R | c.391A>G (p.Ser131Gly) | dbSNP gnomAD v2 gnomAD v4 |