Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919419_89919421del | CA8255504 | MC1R | c.161_163del (p.Val54del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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 |
16 | g.89919429G>A | CA8255514 | MC1R | c.171G>A (p.Ala57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919429G>C | CA497380910 | MC1R | c.171G>C (p.Ala57=) | |
16 | g.89919429G= | CA2242009368 | MC1R | c.171G= (p.Ala57=) | |
16 | g.89919429G>T | CA497380911 | MC1R | c.171G>T (p.Ala57=) | dbSNP gnomAD v4 |
16 | g.89919430C>A | CA397459691 | MC1R | c.172C>A (p.Leu58Met) | |
16 | g.89919430C>G | CA397459694 | MC1R | c.172C>G (p.Leu58Val) | |
16 | g.89919430C>T | CA497380912 | MC1R | c.172C>T (p.Leu58=) | |
16 | g.89919431T>A | CA397459702 | MC1R | c.173T>A (p.Leu58Gln) | |
16 | g.89919431T>C | CA397459698 | MC1R | c.173T>C (p.Leu58Pro) | gnomAD v4 |
16 | g.89919431T>G | CA397459700 | MC1R | c.173T>G (p.Leu58Arg) | |
16 | g.89919432G>A | CA497380913 | MC1R | c.174G>A (p.Leu58=) | |
16 | g.89919432G>C | CA497380914 | MC1R | c.174G>C (p.Leu58=) | |
16 | g.89919432G>T | CA497380915 | MC1R | c.174G>T (p.Leu58=) | |
16 | g.89919433G>A | CA397459704 | MC1R | c.175G>A (p.Val59Met) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919433G>C | CA397459720 | MC1R | c.175G>C (p.Val59Leu) | |
16 | g.89919433G= | CA2242009369 | MC1R | c.175G= (p.Val59=) |