Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89919436G>ACA397459733MC1Rc.178G>A (p.Val60Met)
16g.89919436G>CCA397459735MC1Rc.178G>C (p.Val60Leu)
16g.89919436G=CA2242009370MC1Rc.178G= (p.Val60=)
16g.89919436G>TCA123869MC1Rc.178G>T (p.Val60Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919437T>ACA397459737MC1Rc.179T>A (p.Val60Glu)
dbSNP gnomAD v2
16g.89919437T>CCA397459745MC1Rc.179T>C (p.Val60Ala)
16g.89919437T>GCA397459747MC1Rc.179T>G (p.Val60Gly)
16g.89919437T=CA2242009371MC1Rc.179T= (p.Val60=)
16g.89919438G>ACA497380919MC1Rc.180G>A (p.Val60=)
16g.89919438G>CCA497380920MC1Rc.180G>C (p.Val60=)
16g.89919438G>TCA497380921MC1Rc.180G>T (p.Val60=)
16g.89919439delCA2635065248MC1Rc.181del (p.Ala61ProfsTer27)
gnomAD v4
16g.89919439G>ACA397459756MC1Rc.181G>A (p.Ala61Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919439G>CCA397459755MC1Rc.181G>C (p.Ala61Pro)
16g.89919439G=CA2242009372MC1Rc.181G= (p.Ala61=)
16g.89919439G>TCA397459749MC1Rc.181G>T (p.Ala61Ser)
gnomAD v4
16g.89919443_89919451delCA2635065251MC1Rc.185_193del (p.Thr62_Ala64del)
gnomAD v4
16g.89919440C>ACA397459758MC1Rc.182C>A (p.Ala61Asp)
16g.89919440C>GCA397459760MC1Rc.182C>G (p.Ala61Gly)
16g.89919440C>TCA397459763MC1Rc.182C>T (p.Ala61Val)
gnomAD v4
16g.89919441C>ACA497380922MC1Rc.183C>A (p.Ala61=)
16g.89919441C>GCA497380923MC1Rc.183C>G (p.Ala61=)
16g.89919441C>TCA497380924MC1Rc.183C>T (p.Ala61=)
gnomAD v4
16g.89919442A=CA2242009373MC1Rc.184A= (p.Thr62=)
16g.89919442A>CCA397459766MC1Rc.184A>C (p.Thr62Pro)
dbSNP
16g.89919442A>GCA397459768MC1Rc.184A>G (p.Thr62Ala)
16g.89919442A>TCA397459771MC1Rc.184A>T (p.Thr62Ser)
16g.89919443C>ACA397459774MC1Rc.185C>A (p.Thr62Asn)
16g.89919443C=CA2242009374MC1Rc.185C= (p.Thr62=)
16g.89919443C>GCA397459776MC1Rc.185C>G (p.Thr62Ser)
16g.89919443C>TCA286607413MC1Rc.185C>T (p.Thr62Ile)
dbSNP gnomAD v4
16g.89919444C>ACA497380925MC1Rc.186C>A (p.Thr62=)
16g.89919444C=CA2242009375MC1Rc.186C= (p.Thr62=)
16g.89919444C>GCA497380926MC1Rc.186C>G (p.Thr62=)
16g.89919444C>TCA8255515MC1Rc.186C>T (p.Thr62=)
dbSNP ExAC gnomAD v2
16g.89919445A=CA2242009376MC1Rc.187A= (p.Ile63=)
16g.89919445A>CCA397459782MC1Rc.187A>C (p.Ile63Leu)
16g.89919445A>GCA8255516MC1Rc.187A>G (p.Ile63Val)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919445A>TCA397459784MC1Rc.187A>T (p.Ile63Phe)
16g.89919446T>ACA397459787MC1Rc.188T>A (p.Ile63Asn)
16g.89919446T>CCA397459788MC1Rc.188T>C (p.Ile63Thr)
ClinVar dbSNP gnomAD v4
16g.89919446T>GCA397459785MC1Rc.188T>G (p.Ile63Ser)
16g.89919446T=CA2242009378MC1Rc.188T= (p.Ile63=)
16g.89919448_89919449insTGGAGAACGCGCTGGTGGTGGCCACCGTCGCA2242009377MC1Rc.190_191insTGGAGAACGCGCTGGTGGTGGCCACCGTCG (p.Ile63_Ala64insValGluAsnAlaLeuValValAlaThrVal)
ClinVar dbSNP gnomAD v4
16g.89919447C>ACA497380927MC1Rc.189C>A (p.Ile63=)
16g.89919447C=CA2242009379MC1Rc.189C= (p.Ile63=)
16g.89919447C>GCA397459792MC1Rc.189C>G (p.Ile63Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919447C>TCA8255517MC1Rc.189C>T (p.Ile63=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919448G>ACA8255518MC1Rc.190G>A (p.Ala64Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919448G>CCA286607418MC1Rc.190G>C (p.Ala64Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched