Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89919317C>ACA397459124MC1Rc.59C>A (p.Ala20Asp)
16g.89919317C=CA2242009294MC1Rc.59C= (p.Ala20=)
16g.89919317C>GCA8255472MC1Rc.59C>G (p.Ala20Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919317C>TCA397459122MC1Rc.59C>T (p.Ala20Val)
dbSNP gnomAD v2 gnomAD v4
16g.89919318C>ACA497380580MC1Rc.60C>A (p.Ala20=)
16g.89919318C>GCA497380581MC1Rc.60C>G (p.Ala20=)
16g.89919318C>TCA497380582MC1Rc.60C>T (p.Ala20=)
16g.89919319A>CCA397459135MC1Rc.61A>C (p.Ile21Leu)
16g.89919319A>GCA397459128MC1Rc.61A>G (p.Ile21Val)
dbSNP gnomAD v4
16g.89919319A>TCA397459133MC1Rc.61A>T (p.Ile21Phe)
16g.89919320delCA2576103978MC1Rc.62del (p.Ile21ThrfsTer?)
16g.89919320T>ACA397459137MC1Rc.62T>A (p.Ile21Asn)
16g.89919320T>CCA397459139MC1Rc.62T>C (p.Ile21Thr)
16g.89919320T>GCA397459140MC1Rc.62T>G (p.Ile21Ser)
16g.89919321C>ACA497380584MC1Rc.63C>A (p.Ile21=)
16g.89919321C>GCA397459142MC1Rc.63C>G (p.Ile21Met)
16g.89919321C>TCA497380586MC1Rc.63C>T (p.Ile21=)
ClinVar dbSNP
16g.89919322C>ACA397459145MC1Rc.64C>A (p.Pro22Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919322C=CA2242009295MC1Rc.64C= (p.Pro22=)
16g.89919322C>GCA397459148MC1Rc.64C>G (p.Pro22Ala)
16g.89919322C>TCA397459149MC1Rc.64C>T (p.Pro22Ser)
16g.89919323C>ACA397459151MC1Rc.65C>A (p.Pro22His)
16g.89919323C=CA2242009297MC1Rc.65C= (p.Pro22=)
16g.89919323C>GCA397459153MC1Rc.65C>G (p.Pro22Arg)
16g.89919323C>TCA397459155MC1Rc.65C>T (p.Pro22Leu)
dbSNP gnomAD v2 gnomAD v4
16g.89919323_89919344delinsCCCAGCTGGGGCTGGCTGCCAACA2242009296MC1Rc.65_86delinsCCCAGCTGGGGCTGGCTGCCAA (p.Pro22=)
16g.89919324C>ACA497380595MC1Rc.66C>A (p.Pro22=)
16g.89919324C=CA2242009298MC1Rc.66C= (p.Pro22=)
16g.89919324C>GCA497380599MC1Rc.66C>G (p.Pro22=)
16g.89919324C>TCA8255473MC1Rc.66C>T (p.Pro22=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919328_89919348delCA624455298MC1Rc.70_90del (p.Leu24_Gln30del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919325C>ACA397459160MC1Rc.67C>A (p.Gln23Lys)
16g.89919325C=CA2242009299MC1Rc.67C= (p.Gln23=)
16g.89919325C>GCA397459159MC1Rc.67C>G (p.Gln23Glu)
16g.89919325C>TCA8255474MC1Rc.67C>T (p.Gln23Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919326_89919328delCA2635064789MC1Rc.68_70del (p.Gln23del)
gnomAD v4
16g.89919326A=CA2242009300MC1Rc.68A= (p.Gln23=)
16g.89919326A>CCA397459163MC1Rc.68A>C (p.Gln23Pro)
dbSNP gnomAD v2 gnomAD v4
16g.89919326A>GCA397459165MC1Rc.68A>G (p.Gln23Arg)
16g.89919326A>TCA397459169MC1Rc.68A>T (p.Gln23Leu)
16g.89919327G>ACA497380604MC1Rc.69G>A (p.Gln23=)
gnomAD v3 gnomAD v4
16g.89919327G>CCA397459170MC1Rc.69G>C (p.Gln23His)
gnomAD v4
16g.89919327G>TCA397459173MC1Rc.69G>T (p.Gln23His)
gnomAD v4
16g.89919328C>ACA397459176MC1Rc.70C>A (p.Leu24Met)
16g.89919328C>GCA397459180MC1Rc.70C>G (p.Leu24Val)
16g.89919328C>TCA497380605MC1Rc.70C>T (p.Leu24=)
16g.89919329T>ACA397459183MC1Rc.71T>A (p.Leu24Gln)
16g.89919329T>CCA397459184MC1Rc.71T>C (p.Leu24Pro)
16g.89919329T>GCA397459185MC1Rc.71T>G (p.Leu24Arg)
gnomAD v4
16g.89919330G>ACA497380608MC1Rc.72G>A (p.Leu24=)

Number of alleles fetched