Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
16 | g.89919423G>C | CA397459653 | MC1R | c.165G>C (p.Glu55Asp) | |
16 | g.89919423G>T | CA397459655 | MC1R | c.165G>T (p.Glu55Asp) | |
16 | g.89919424A= | CA2242009364 | MC1R | c.166A= (p.Asn56=) | |
16 | g.89919424A>C | CA397459656 | MC1R | c.166A>C (p.Asn56His) | |
16 | g.89919424A>G | CA397459658 | MC1R | c.166A>G (p.Asn56Asp) | |
16 | g.89919424A>T | CA8255509 | MC1R | c.166A>T (p.Asn56Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919425A>C | CA397459667 | MC1R | c.167A>C (p.Asn56Thr) | |
16 | g.89919425A>G | CA397459662 | MC1R | c.167A>G (p.Asn56Ser) | |
16 | g.89919425A>T | CA397459665 | MC1R | c.167A>T (p.Asn56Ile) | |
16 | g.89919426C>A | CA397459669 | MC1R | c.168C>A (p.Asn56Lys) | |
16 | g.89919426C= | CA2242009365 | MC1R | c.168C= (p.Asn56=) | |
16 | g.89919426C>G | CA397459670 | MC1R | c.168C>G (p.Asn56Lys) | |
16 | g.89919426C>T | CA8255510 | MC1R | c.168C>T (p.Asn56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919427G>A | CA8255512 | MC1R | c.169G>A (p.Ala57Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919427G>C | CA397459675 | MC1R | c.169G>C (p.Ala57Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919427G= | CA2242009366 | MC1R | c.169G= (p.Ala57=) | |
16 | g.89919427G>T | CA397459678 | MC1R | c.169G>T (p.Ala57Ser) | |
16 | g.89919427dup | CA8255511 | MC1R | c.169dup (p.Ala57GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919428C>A | CA397459681 | MC1R | c.170C>A (p.Ala57Glu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919428C= | CA2242009367 | MC1R | c.170C= (p.Ala57=) | |
16 | g.89919428C>G | CA397459684 | MC1R | c.170C>G (p.Ala57Gly) | |
16 | g.89919428C>T | CA8255513 | MC1R | c.170C>T (p.Ala57Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |