Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
16 | g.89919418G>A | CA397459632 | MC1R | c.160G>A (p.Val54Met) | dbSNP |
16 | g.89919418G>C | CA397459630 | MC1R | c.160G>C (p.Val54Leu) | |
16 | g.89919418G= | CA2242009361 | MC1R | c.160G= (p.Val54=) | |
16 | g.89919418G>T | CA397459635 | MC1R | c.160G>T (p.Val54Leu) | |
16 | g.89919419T>A | CA8255507 | MC1R | c.161T>A (p.Val54Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919419T>C | CA397459637 | MC1R | c.161T>C (p.Val54Ala) | |
16 | g.89919419T>G | CA397459638 | MC1R | c.161T>G (p.Val54Gly) | dbSNP |
16 | g.89919419T= | CA2242009362 | MC1R | c.161T= (p.Val54=) | |
16 | g.89919420G>A | CA497380895 | MC1R | c.162G>A (p.Val54=) | |
16 | g.89919420G>C | CA497380897 | MC1R | c.162G>C (p.Val54=) | |
16 | g.89919420G>T | CA497380900 | MC1R | c.162G>T (p.Val54=) | |
16 | g.89919421G>A | CA397459640 | MC1R | c.163G>A (p.Glu55Lys) | |
16 | g.89919421G>C | CA397459642 | MC1R | c.163G>C (p.Glu55Gln) | |
16 | g.89919421G>T | CA397459644 | MC1R | c.163G>T (p.Glu55Ter) | |
16 | g.89919422A= | CA2242009363 | MC1R | c.164A= (p.Glu55=) | |
16 | g.89919422A>C | CA8255508 | MC1R | c.164A>C (p.Glu55Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919422A>G | CA397459647 | MC1R | c.164A>G (p.Glu55Gly) | gnomAD v3 gnomAD v4 |
16 | g.89919422A>T | CA397459649 | MC1R | c.164A>T (p.Glu55Val) | |
16 | g.89919423G>A | CA497380907 | MC1R | c.165G>A (p.Glu55=) |