Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89919312delCA1139665004MC1Rc.54del (p.Thr19GlnfsTer?)
ClinVar dbSNP
16g.89919312C>ACA497380568MC1Rc.54C>A (p.Pro18=)
dbSNP gnomAD v2 gnomAD v4
16g.89919312C=CA2242009291MC1Rc.54C= (p.Pro18=)
16g.89919312C>GCA497380569MC1Rc.54C>G (p.Pro18=)
dbSNP gnomAD v3 gnomAD v4
16g.89919312C>TCA497380570MC1Rc.54C>T (p.Pro18=)
dbSNP gnomAD v2 gnomAD v4
16g.89919313A=CA2242009292MC1Rc.55A= (p.Thr19=)
16g.89919313A>CCA397459112MC1Rc.55A>C (p.Thr19Pro)
16g.89919313A>GCA397459114MC1Rc.55A>G (p.Thr19Ala)
dbSNP gnomAD v3 gnomAD v4
16g.89919313A>TCA397459115MC1Rc.55A>T (p.Thr19Ser)
16g.89919314C>ACA397459116MC1Rc.56C>A (p.Thr19Lys)
16g.89919314C=CA2242009293MC1Rc.56C= (p.Thr19=)
16g.89919314C>GCA397459117MC1Rc.56C>G (p.Thr19Arg)
16g.89919314C>TCA8255471MC1Rc.56C>T (p.Thr19Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919315A>CCA497380572MC1Rc.57A>C (p.Thr19=)
16g.89919315A>GCA497380573MC1Rc.57A>G (p.Thr19=)
16g.89919315A>TCA497380574MC1Rc.57A>T (p.Thr19=)
16g.89919316G>ACA397459118MC1Rc.58G>A (p.Ala20Thr)
16g.89919316G>CCA397459119MC1Rc.58G>C (p.Ala20Pro)
16g.89919316G>TCA397459120MC1Rc.58G>T (p.Ala20Ser)
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

Number of alleles fetched