Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919436G>A | CA397459733 | MC1R | c.178G>A (p.Val60Met) | |
16 | g.89919436G>C | CA397459735 | MC1R | c.178G>C (p.Val60Leu) | |
16 | g.89919436G= | CA2242009370 | MC1R | c.178G= (p.Val60=) | |
16 | g.89919436G>T | CA123869 | MC1R | c.178G>T (p.Val60Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919437T>A | CA397459737 | MC1R | c.179T>A (p.Val60Glu) | dbSNP gnomAD v2 |
16 | g.89919437T>C | CA397459745 | MC1R | c.179T>C (p.Val60Ala) | |
16 | g.89919437T>G | CA397459747 | MC1R | c.179T>G (p.Val60Gly) | |
16 | g.89919437T= | CA2242009371 | MC1R | c.179T= (p.Val60=) | |
16 | g.89919438G>A | CA497380919 | MC1R | c.180G>A (p.Val60=) | |
16 | g.89919438G>C | CA497380920 | MC1R | c.180G>C (p.Val60=) | |
16 | g.89919438G>T | CA497380921 | MC1R | c.180G>T (p.Val60=) | |
16 | g.89919439del | CA2635065248 | MC1R | c.181del (p.Ala61ProfsTer27) | gnomAD v4 |
16 | g.89919439G>A | CA397459756 | MC1R | c.181G>A (p.Ala61Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919439G>C | CA397459755 | MC1R | c.181G>C (p.Ala61Pro) | |
16 | g.89919439G= | CA2242009372 | MC1R | c.181G= (p.Ala61=) | |
16 | g.89919439G>T | CA397459749 | MC1R | c.181G>T (p.Ala61Ser) | gnomAD v4 |
16 | g.89919443_89919451del | CA2635065251 | MC1R | c.185_193del (p.Thr62_Ala64del) | gnomAD v4 |
16 | g.89919440C>A | CA397459758 | MC1R | c.182C>A (p.Ala61Asp) | |
16 | g.89919440C>G | CA397459760 | MC1R | c.182C>G (p.Ala61Gly) | |
16 | g.89919440C>T | CA397459763 | MC1R | c.182C>T (p.Ala61Val) | gnomAD v4 |
16 | g.89919441C>A | CA497380922 | MC1R | c.183C>A (p.Ala61=) | |
16 | g.89919441C>G | CA497380923 | MC1R | c.183C>G (p.Ala61=) | |
16 | g.89919441C>T | CA497380924 | MC1R | c.183C>T (p.Ala61=) | gnomAD v4 |
16 | g.89919442A= | CA2242009373 | MC1R | c.184A= (p.Thr62=) | |
16 | g.89919442A>C | CA397459766 | MC1R | c.184A>C (p.Thr62Pro) | dbSNP |
16 | g.89919442A>G | CA397459768 | MC1R | c.184A>G (p.Thr62Ala) | |
16 | g.89919442A>T | CA397459771 | MC1R | c.184A>T (p.Thr62Ser) | |
16 | g.89919443C>A | CA397459774 | MC1R | c.185C>A (p.Thr62Asn) | |
16 | g.89919443C= | CA2242009374 | MC1R | c.185C= (p.Thr62=) | |
16 | g.89919443C>G | CA397459776 | MC1R | c.185C>G (p.Thr62Ser) | |
16 | g.89919443C>T | CA286607413 | MC1R | c.185C>T (p.Thr62Ile) | dbSNP gnomAD v4 |
16 | g.89919444C>A | CA497380925 | MC1R | c.186C>A (p.Thr62=) | |
16 | g.89919444C= | CA2242009375 | MC1R | c.186C= (p.Thr62=) | |
16 | g.89919444C>G | CA497380926 | MC1R | c.186C>G (p.Thr62=) | |
16 | g.89919444C>T | CA8255515 | MC1R | c.186C>T (p.Thr62=) | dbSNP ExAC gnomAD v2 |
16 | g.89919445A= | CA2242009376 | MC1R | c.187A= (p.Ile63=) | |
16 | g.89919445A>C | CA397459782 | MC1R | c.187A>C (p.Ile63Leu) | |
16 | g.89919445A>G | CA8255516 | MC1R | c.187A>G (p.Ile63Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919445A>T | CA397459784 | MC1R | c.187A>T (p.Ile63Phe) | |
16 | g.89919446T>A | CA397459787 | MC1R | c.188T>A (p.Ile63Asn) | |
16 | g.89919446T>C | CA397459788 | MC1R | c.188T>C (p.Ile63Thr) | ClinVar dbSNP gnomAD v4 |
16 | g.89919446T>G | CA397459785 | MC1R | c.188T>G (p.Ile63Ser) | |
16 | g.89919446T= | CA2242009378 | MC1R | c.188T= (p.Ile63=) | |
16 | g.89919448_89919449insTGGAGAACGCGCTGGTGGTGGCCACCGTCG | CA2242009377 | MC1R | c.190_191insTGGAGAACGCGCTGGTGGTGGCCACCGTCG (p.Ile63_Ala64insValGluAsnAlaLeuValValAlaThrVal) | ClinVar dbSNP gnomAD v4 |
16 | g.89919447C>A | CA497380927 | MC1R | c.189C>A (p.Ile63=) | |
16 | g.89919447C= | CA2242009379 | MC1R | c.189C= (p.Ile63=) | |
16 | g.89919447C>G | CA397459792 | MC1R | c.189C>G (p.Ile63Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919447C>T | CA8255517 | MC1R | c.189C>T (p.Ile63=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919448G>A | CA8255518 | MC1R | c.190G>A (p.Ala64Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919448G>C | CA286607418 | MC1R | c.190G>C (p.Ala64Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |