| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89919405G>A | CA8255501 | MC1R | c.147G>A (p.Gly49=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89919405G>C | CA497380822 | MC1R | c.147G>C (p.Gly49=) | |
| 16 | g.89919405G= | CA2242009352 | MC1R | c.147G= (p.Gly49=) | |
| 16 | g.89919405G>T | CA497380823 | MC1R | c.147G>T (p.Gly49=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89919406C>A | CA397459548 | MC1R | c.148C>A (p.Leu50Met) | |
| 16 | g.89919406C= | CA2242009353 | MC1R | c.148C= (p.Leu50=) | |
| 16 | g.89919406C>G | CA397459554 | MC1R | c.148C>G (p.Leu50Val) | |
| 16 | g.89919406C>T | CA497380827 | MC1R | c.148C>T (p.Leu50=) | dbSNP |
| 16 | g.89919407T>A | CA397459557 | MC1R | c.149T>A (p.Leu50Gln) | |
| 16 | g.89919407T>C | CA397459562 | MC1R | c.149T>C (p.Leu50Pro) | |
| 16 | g.89919407T>G | CA8255502 | MC1R | c.149T>G (p.Leu50Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89919407T= | CA2242009354 | MC1R | c.149T= (p.Leu50=) | |
| 16 | g.89919408G>A | CA286607397 | MC1R | c.150G>A (p.Leu50=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89919408G>C | CA497380833 | MC1R | c.150G>C (p.Leu50=) | |
| 16 | g.89919408G= | CA2242009355 | MC1R | c.150G= (p.Leu50=) | |
| 16 | g.89919408G>T | CA497380835 | MC1R | c.150G>T (p.Leu50=) | |
| 16 | g.89919409G>A | CA397459582 | MC1R | c.151G>A (p.Val51Met) | gnomAD v4 |
| 16 | g.89919409G>C | CA397459569 | MC1R | c.151G>C (p.Val51Leu) | |
| 16 | g.89919409G>T | CA397459577 | MC1R | c.151G>T (p.Val51Leu) | |
| 16 | g.89919410del | CA2635065158 | MC1R | c.152del (p.Val51GlyfsTer?) | gnomAD v4 |
| 16 | g.89919410T>A | CA397459585 | MC1R | c.152T>A (p.Val51Glu) | |
| 16 | g.89919410T>C | CA8255503 | MC1R | c.152T>C (p.Val51Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89919410T>G | CA397459590 | MC1R | c.152T>G (p.Val51Gly) | gnomAD v4 |
| 16 | g.89919410T= | CA2242009356 | MC1R | c.152T= (p.Val51=) | |
| 16 | g.89919411G>A | CA497380848 | MC1R | c.153G>A (p.Val51=) | |
| 16 | g.89919411G>C | CA497380849 | MC1R | c.153G>C (p.Val51=) | |
| 16 | g.89919411G>T | CA497380852 | MC1R | c.153G>T (p.Val51=) | |
| 16 | g.89919412A>C | CA397459593 | MC1R | c.154A>C (p.Ser52Arg) | |
| 16 | g.89919412A>G | CA397459595 | MC1R | c.154A>G (p.Ser52Gly) | |
| 16 | g.89919412A>T | CA397459597 | MC1R | c.154A>T (p.Ser52Cys) | |
| 16 | g.89919413G>A | CA397459598 | MC1R | c.155G>A (p.Ser52Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.89919413G>C | CA397459601 | MC1R | c.155G>C (p.Ser52Thr) | |
| 16 | g.89919413G= | CA2242009357 | MC1R | c.155G= (p.Ser52=) | |
| 16 | g.89919413G>T | CA397459604 | MC1R | c.155G>T (p.Ser52Ile) | |
| 16 | g.89919414C>A | CA397459606 | MC1R | c.156C>A (p.Ser52Arg) | |
| 16 | g.89919414C>G | CA397459609 | MC1R | c.156C>G (p.Ser52Arg) | |
| 16 | g.89919414C>T | CA497380867 | MC1R | c.156C>T (p.Ser52=) | |
| 16 | g.89919415T>A | CA397459611 | MC1R | c.157T>A (p.Leu53Met) | |
| 16 | g.89919415T>C | CA8255505 | MC1R | c.157T>C (p.Leu53=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89919415T>G | CA397459613 | MC1R | c.157T>G (p.Leu53Val) | |
| 16 | g.89919415T= | CA2242009358 | MC1R | c.157T= (p.Leu53=) | |
| 16 | g.89919415_89919418delinsTTGG | CA2242009359 | MC1R | c.157_160delinsTTGG (p.Leu53=) | |
| 16 | g.89919416T>A | CA397459617 | MC1R | c.158T>A (p.Leu53Ter) | |
| 16 | g.89919416T>C | CA397459622 | MC1R | c.158T>C (p.Leu53Ser) | |
| 16 | g.89919416T>G | CA397459624 | MC1R | c.158T>G (p.Leu53Trp) | gnomAD v4 |
| 16 | g.89919419_89919421del | CA8255504 | MC1R | c.161_163del (p.Val54del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89919417G>A | CA497380885 | MC1R | c.159G>A (p.Leu53=) | |
| 16 | g.89919417G>C | CA8255506 | MC1R | c.159G>C (p.Leu53Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89919417G= | CA2242009360 | MC1R | c.159G= (p.Leu53=) | |
| 16 | g.89919417G>T | CA397459626 | MC1R | c.159G>T (p.Leu53Phe) |