Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.8325860T>ACA338162252SLC45A1c.533T>A (p.Ile178Asn)
c.635T>A (p.Ile212Asn)
c.542T>A (p.Ile181Asn)
c.-74T>A (n.-74T>A)
c.440T>A (p.Ile147Asn)
1g.8325860T>CCA338162254SLC45A1c.533T>C (p.Ile178Thr)
c.635T>C (p.Ile212Thr)
c.542T>C (p.Ile181Thr)
c.-74T>C (n.-74T>C)
c.440T>C (p.Ile147Thr)
1g.8325860T>GCA338162255SLC45A1c.533T>G (p.Ile178Ser)
c.635T>G (p.Ile212Ser)
c.542T>G (p.Ile181Ser)
c.-74T>G (n.-74T>G)
c.440T>G (p.Ile147Ser)
1g.8325861T>ACA415835696SLC45A1c.534T>A (p.Ile178=)
c.636T>A (p.Ile212=)
c.543T>A (p.Ile181=)
c.-73T>A (n.-73T>A)
c.441T>A (p.Ile147=)
1g.8325861T>CCA415835695SLC45A1c.534T>C (p.Ile178=)
c.636T>C (p.Ile212=)
c.543T>C (p.Ile181=)
c.-73T>C (n.-73T>C)
c.441T>C (p.Ile147=)
1g.8325861T>GCA338162257SLC45A1c.534T>G (p.Ile178Met)
c.636T>G (p.Ile212Met)
c.543T>G (p.Ile181Met)
c.-73T>G (n.-73T>G)
c.441T>G (p.Ile147Met)
1g.8325862G>ACA338162259SLC45A1c.535G>A (p.Gly179Ser)
c.637G>A (p.Gly213Ser)
c.544G>A (p.Gly182Ser)
c.-72G>A (n.-72G>A)
c.442G>A (p.Gly148Ser)
1g.8325862G>CCA338162261SLC45A1c.535G>C (p.Gly179Arg)
c.637G>C (p.Gly213Arg)
c.544G>C (p.Gly182Arg)
c.-72G>C (n.-72G>C)
c.442G>C (p.Gly148Arg)
1g.8325862G>TCA338162262SLC45A1c.535G>T (p.Gly179Cys)
c.637G>T (p.Gly213Cys)
c.544G>T (p.Gly182Cys)
c.-72G>T (n.-72G>T)
c.442G>T (p.Gly148Cys)
1g.8325863G>ACA570124SLC45A1c.536G>A (p.Gly179Asp)
c.638G>A (p.Gly213Asp)
c.545G>A (p.Gly182Asp)
c.-71G>A (n.-71G>A)
c.443G>A (p.Gly148Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8325863G>CCA338162265SLC45A1c.536G>C (p.Gly179Ala)
c.638G>C (p.Gly213Ala)
c.545G>C (p.Gly182Ala)
c.-71G>C (n.-71G>C)
c.443G>C (p.Gly148Ala)
1g.8325863G=CA1152270515SLC45A1c.536G= (p.Gly179=)
c.638G= (p.Gly213=)
c.545G= (p.Gly182=)
c.-71G= (n.-71G=)
c.443G= (p.Gly148=)
1g.8325863G>TCA338162267SLC45A1c.536G>T (p.Gly179Val)
c.638G>T (p.Gly213Val)
c.545G>T (p.Gly182Val)
c.-71G>T (n.-71G>T)
c.443G>T (p.Gly148Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.8325864C>ACA415835698SLC45A1c.537C>A (p.Gly179=)
c.639C>A (p.Gly213=)
c.546C>A (p.Gly182=)
c.-70C>A (n.-70C>A)
c.444C>A (p.Gly148=)
1g.8325864C=CA1152270521SLC45A1c.537C= (p.Gly179=)
c.639C= (p.Gly213=)
c.546C= (p.Gly182=)
c.-70C= (n.-70C=)
c.444C= (p.Gly148=)
1g.8325864C>GCA415835699SLC45A1c.537C>G (p.Gly179=)
c.639C>G (p.Gly213=)
c.546C>G (p.Gly182=)
c.-70C>G (n.-70C>G)
c.444C>G (p.Gly148=)
1g.8325864C>TCA415835700SLC45A1c.537C>T (p.Gly179=)
c.639C>T (p.Gly213=)
c.546C>T (p.Gly182=)
c.-70C>T (n.-70C>T)
c.444C>T (p.Gly148=)
1g.8325865A=CA1141745317SLC45A1c.538A= (p.Ile180=)
c.640A= (p.Ile214=)
c.547A= (p.Ile183=)
c.-69A= (n.-69A=)
c.445A= (p.Ile149=)
1g.8325865A>CCA338162269SLC45A1c.538A>C (p.Ile180Leu)
c.640A>C (p.Ile214Leu)
c.547A>C (p.Ile183Leu)
c.-69A>C (n.-69A>C)
c.445A>C (p.Ile149Leu)
1g.8325865A>GCA338162271SLC45A1c.538A>G (p.Ile180Val)
c.640A>G (p.Ile214Val)
c.547A>G (p.Ile183Val)
c.-69A>G (n.-69A>G)
c.445A>G (p.Ile149Val)
1g.8325865A>TCA338162273SLC45A1c.538A>T (p.Ile180Phe)
c.640A>T (p.Ile214Phe)
c.547A>T (p.Ile183Phe)
c.-69A>T (n.-69A>T)
c.445A>T (p.Ile149Phe)
1g.8325865dupCA17659987SLC45A1c.538dup (p.Ile180AsnfsTer5)
c.640dup (p.Ile214AsnfsTer5)
c.547dup (p.Ile183AsnfsTer5)
c.-69dup (n.-69dup)
c.445dup (p.Ile149AsnfsTer5)
 dbSNP
1g.8325866T>ACA338162275SLC45A1c.539T>A (p.Ile180Asn)
c.641T>A (p.Ile214Asn)
c.548T>A (p.Ile183Asn)
c.-68T>A (n.-68T>A)
c.446T>A (p.Ile149Asn)
1g.8325866T>CCA338162276SLC45A1c.539T>C (p.Ile180Thr)
c.641T>C (p.Ile214Thr)
c.548T>C (p.Ile183Thr)
c.-68T>C (n.-68T>C)
c.446T>C (p.Ile149Thr)
1g.8325866T>GCA338162278SLC45A1c.539T>G (p.Ile180Ser)
c.641T>G (p.Ile214Ser)
c.548T>G (p.Ile183Ser)
c.-68T>G (n.-68T>G)
c.446T>G (p.Ile149Ser)
1g.8325867C>ACA415835702SLC45A1c.540C>A (p.Ile180=)
c.642C>A (p.Ile214=)
c.549C>A (p.Ile183=)
c.-67C>A (n.-67C>A)
c.447C>A (p.Ile149=)
1g.8325867C=CA1152270526SLC45A1c.540C= (p.Ile180=)
c.642C= (p.Ile214=)
c.549C= (p.Ile183=)
c.-67C= (n.-67C=)
c.447C= (p.Ile149=)
1g.8325867C>GCA338162279SLC45A1c.540C>G (p.Ile180Met)
c.642C>G (p.Ile214Met)
c.549C>G (p.Ile183Met)
c.-67C>G (n.-67C>G)
c.447C>G (p.Ile149Met)
1g.8325867C>TCA415835703SLC45A1c.540C>T (p.Ile180=)
c.642C>T (p.Ile214=)
c.549C>T (p.Ile183=)
c.-67C>T (n.-67C>T)
c.447C>T (p.Ile149=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.8325868G>ACA17659989SLC45A1c.541G>A (p.Ala181Thr)
c.643G>A (p.Ala215Thr)
c.550G>A (p.Ala184Thr)
c.-66G>A (n.-66G>A)
c.448G>A (p.Ala150Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.8325868G>CCA338162283SLC45A1c.541G>C (p.Ala181Pro)
c.643G>C (p.Ala215Pro)
c.550G>C (p.Ala184Pro)
c.-66G>C (n.-66G>C)
c.448G>C (p.Ala150Pro)
1g.8325868G=CA1152270529SLC45A1c.541G= (p.Ala181=)
c.643G= (p.Ala215=)
c.550G= (p.Ala184=)
c.-66G= (n.-66G=)
c.448G= (p.Ala150=)
1g.8325868G>TCA338162284SLC45A1c.541G>T (p.Ala181Ser)
c.643G>T (p.Ala215Ser)
c.550G>T (p.Ala184Ser)
c.-66G>T (n.-66G>T)
c.448G>T (p.Ala150Ser)
 ClinVar
1g.8325869C>ACA338162288SLC45A1c.542C>A (p.Ala181Asp)
c.644C>A (p.Ala215Asp)
c.551C>A (p.Ala184Asp)
c.-65C>A (n.-65C>A)
c.449C>A (p.Ala150Asp)
1g.8325869C=CA1152270531SLC45A1c.542C= (p.Ala181=)
c.644C= (p.Ala215=)
c.551C= (p.Ala184=)
c.-65C= (n.-65C=)
c.449C= (p.Ala150=)
1g.8325869C>GCA338162287SLC45A1c.542C>G (p.Ala181Gly)
c.644C>G (p.Ala215Gly)
c.551C>G (p.Ala184Gly)
c.-65C>G (n.-65C>G)
c.449C>G (p.Ala150Gly)
1g.8325869C>TCA17659991SLC45A1c.542C>T (p.Ala181Val)
c.644C>T (p.Ala215Val)
c.551C>T (p.Ala184Val)
c.-65C>T (n.-65C>T)
c.449C>T (p.Ala150Val)
 dbSNP gnomAD v4
1g.8325870C>ACA415835705SLC45A1c.543C>A (p.Ala181=)
c.645C>A (p.Ala215=)
c.552C>A (p.Ala184=)
c.-64C>A (n.-64C>A)
c.450C>A (p.Ala150=)
1g.8325870C>GCA415835707SLC45A1c.543C>G (p.Ala181=)
c.645C>G (p.Ala215=)
c.552C>G (p.Ala184=)
c.-64C>G (n.-64C>G)
c.450C>G (p.Ala150=)
1g.8325870C>TCA415835709SLC45A1c.543C>T (p.Ala181=)
c.645C>T (p.Ala215=)
c.552C>T (p.Ala184=)
c.-64C>T (n.-64C>T)
c.450C>T (p.Ala150=)
1g.8325871C>ACA338162290SLC45A1c.544C>A (p.Leu182Met)
c.646C>A (p.Leu216Met)
c.553C>A (p.Leu185Met)
c.-63C>A (n.-63C>A)
c.451C>A (p.Leu151Met)
1g.8325871C>GCA338162292SLC45A1c.544C>G (p.Leu182Val)
c.646C>G (p.Leu216Val)
c.553C>G (p.Leu185Val)
c.-63C>G (n.-63C>G)
c.451C>G (p.Leu151Val)
1g.8325871C>TCA415835710SLC45A1c.544C>T (p.Leu182=)
c.646C>T (p.Leu216=)
c.553C>T (p.Leu185=)
c.-63C>T (n.-63C>T)
c.451C>T (p.Leu151=)
1g.8325872T>ACA338162293SLC45A1c.545T>A (p.Leu182Gln)
c.647T>A (p.Leu216Gln)
c.554T>A (p.Leu185Gln)
c.-62T>A (n.-62T>A)
c.452T>A (p.Leu151Gln)
1g.8325872T>CCA570125SLC45A1c.545T>C (p.Leu182Pro)
c.647T>C (p.Leu216Pro)
c.554T>C (p.Leu185Pro)
c.-62T>C (n.-62T>C)
c.452T>C (p.Leu151Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8325872T>GCA338162294SLC45A1c.545T>G (p.Leu182Arg)
c.647T>G (p.Leu216Arg)
c.554T>G (p.Leu185Arg)
c.-62T>G (n.-62T>G)
c.452T>G (p.Leu151Arg)
1g.8325872T=CA1152270534SLC45A1c.545T= (p.Leu182=)
c.647T= (p.Leu216=)
c.554T= (p.Leu185=)
c.-62T= (n.-62T=)
c.452T= (p.Leu151=)
1g.8325873G>ACA415835711SLC45A1c.546G>A (p.Leu182=)
c.648G>A (p.Leu216=)
c.555G>A (p.Leu185=)
c.-61G>A (n.-61G>A)
c.453G>A (p.Leu151=)
1g.8325873G>CCA415835712SLC45A1c.546G>C (p.Leu182=)
c.648G>C (p.Leu216=)
c.555G>C (p.Leu185=)
c.-61G>C (n.-61G>C)
c.453G>C (p.Leu151=)
 gnomAD v4
1g.8325873G>TCA415835713SLC45A1c.546G>T (p.Leu182=)
c.648G>T (p.Leu216=)
c.555G>T (p.Leu185=)
c.-61G>T (n.-61G>T)
c.453G>T (p.Leu151=)
1g.8325874G>ACA338162300SLC45A1c.547G>A (p.Ala183Thr)
c.649G>A (p.Ala217Thr)
c.556G>A (p.Ala186Thr)
c.-60G>A (n.-60G>A)
c.454G>A (p.Ala152Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.8325874G>CCA338162299SLC45A1c.547G>C (p.Ala183Pro)
c.649G>C (p.Ala217Pro)
c.556G>C (p.Ala186Pro)
c.-60G>C (n.-60G>C)
c.454G>C (p.Ala152Pro)
 COSMIC
1g.8325874G=CA1152270539SLC45A1c.547G= (p.Ala183=)
c.649G= (p.Ala217=)
c.556G= (p.Ala186=)
c.-60G= (n.-60G=)
c.454G= (p.Ala152=)
1g.8325874G>TCA338162297SLC45A1c.547G>T (p.Ala183Ser)
c.649G>T (p.Ala217Ser)
c.556G>T (p.Ala186Ser)
c.-60G>T (n.-60G>T)
c.454G>T (p.Ala152Ser)
1g.8325875C>ACA338162302SLC45A1c.548C>A (p.Ala183Asp)
c.650C>A (p.Ala217Asp)
c.557C>A (p.Ala186Asp)
c.-59C>A (n.-59C>A)
c.455C>A (p.Ala152Asp)
1g.8325875C>GCA338162304SLC45A1c.548C>G (p.Ala183Gly)
c.650C>G (p.Ala217Gly)
c.557C>G (p.Ala186Gly)
c.-59C>G (n.-59C>G)
c.455C>G (p.Ala152Gly)
1g.8325875C>TCA338162305SLC45A1c.548C>T (p.Ala183Val)
c.650C>T (p.Ala217Val)
c.557C>T (p.Ala186Val)
c.-59C>T (n.-59C>T)
c.455C>T (p.Ala152Val)
1g.8325876T>ACA415835715SLC45A1c.549T>A (p.Ala183=)
c.651T>A (p.Ala217=)
c.558T>A (p.Ala186=)
c.-58T>A (n.-58T>A)
c.456T>A (p.Ala152=)
1g.8325876T>CCA415835716SLC45A1c.549T>C (p.Ala183=)
c.651T>C (p.Ala217=)
c.558T>C (p.Ala186=)
c.-58T>C (n.-58T>C)
c.456T>C (p.Ala152=)
1g.8325876T>GCA415835717SLC45A1c.549T>G (p.Ala183=)
c.651T>G (p.Ala217=)
c.558T>G (p.Ala186=)
c.-58T>G (n.-58T>G)
c.456T>G (p.Ala152=)
1g.8325877G>ACA570126SLC45A1c.550G>A (p.Asp184Asn)
c.652G>A (p.Asp218Asn)
c.559G>A (p.Asp187Asn)
c.-57G>A (n.-57G>A)
c.457G>A (p.Asp153Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325877G>CCA338162308SLC45A1c.550G>C (p.Asp184His)
c.652G>C (p.Asp218His)
c.559G>C (p.Asp187His)
c.-57G>C (n.-57G>C)
c.457G>C (p.Asp153His)
1g.8325877G=CA1147899101SLC45A1c.550G= (p.Asp184=)
c.652G= (p.Asp218=)
c.559G= (p.Asp187=)
c.-57G= (n.-57G=)
c.457G= (p.Asp153=)
1g.8325877G>TCA338162310SLC45A1c.550G>T (p.Asp184Tyr)
c.652G>T (p.Asp218Tyr)
c.559G>T (p.Asp187Tyr)
c.-57G>T (n.-57G>T)
c.457G>T (p.Asp153Tyr)
 dbSNP
1g.8325878A>CCA338162313SLC45A1c.551A>C (p.Asp184Ala)
c.653A>C (p.Asp218Ala)
c.560A>C (p.Asp187Ala)
c.-56A>C (n.-56A>C)
c.458A>C (p.Asp153Ala)
1g.8325878A>GCA338162316SLC45A1c.551A>G (p.Asp184Gly)
c.653A>G (p.Asp218Gly)
c.560A>G (p.Asp187Gly)
c.-56A>G (n.-56A>G)
c.458A>G (p.Asp153Gly)
1g.8325878A>TCA338162314SLC45A1c.551A>T (p.Asp184Val)
c.653A>T (p.Asp218Val)
c.560A>T (p.Asp187Val)
c.-56A>T (n.-56A>T)
c.458A>T (p.Asp153Val)
1g.8325879C>ACA338162317SLC45A1c.552C>A (p.Asp184Glu)
c.654C>A (p.Asp218Glu)
c.561C>A (p.Asp187Glu)
c.-55C>A (n.-55C>A)
c.459C>A (p.Asp153Glu)
1g.8325879C=CA1152270544SLC45A1c.552C= (p.Asp184=)
c.654C= (p.Asp218=)
c.561C= (p.Asp187=)
c.-55C= (n.-55C=)
c.459C= (p.Asp153=)
1g.8325879C>GCA338162319SLC45A1c.552C>G (p.Asp184Glu)
c.654C>G (p.Asp218Glu)
c.561C>G (p.Asp187Glu)
c.-55C>G (n.-55C>G)
c.459C>G (p.Asp153Glu)
1g.8325879C>TCA17659995SLC45A1c.552C>T (p.Asp184=)
c.654C>T (p.Asp218=)
c.561C>T (p.Asp187=)
c.-55C>T (n.-55C>T)
c.459C>T (p.Asp153=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8325880G>ACA570127SLC45A1c.553G>A (p.Val185Met)
c.655G>A (p.Val219Met)
c.562G>A (p.Val188Met)
c.-54G>A (n.-54G>A)
c.460G>A (p.Val154Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325880G>CCA338162321SLC45A1c.553G>C (p.Val185Leu)
c.655G>C (p.Val219Leu)
c.562G>C (p.Val188Leu)
c.-54G>C (n.-54G>C)
c.460G>C (p.Val154Leu)
1g.8325880G=CA1152270549SLC45A1c.553G= (p.Val185=)
c.655G= (p.Val219=)
c.562G= (p.Val188=)
c.-54G= (n.-54G=)
c.460G= (p.Val154=)
1g.8325880G>TCA338162322SLC45A1c.553G>T (p.Val185Leu)
c.655G>T (p.Val219Leu)
c.562G>T (p.Val188Leu)
c.-54G>T (n.-54G>T)
c.460G>T (p.Val154Leu)
1g.8325881T>ACA338162324SLC45A1c.554T>A (p.Val185Glu)
c.656T>A (p.Val219Glu)
c.563T>A (p.Val188Glu)
c.-53T>A (n.-53T>A)
c.461T>A (p.Val154Glu)
1g.8325881T>CCA338162326SLC45A1c.554T>C (p.Val185Ala)
c.656T>C (p.Val219Ala)
c.563T>C (p.Val188Ala)
c.-53T>C (n.-53T>C)
c.461T>C (p.Val154Ala)
1g.8325881T>GCA338162327SLC45A1c.554T>G (p.Val185Gly)
c.656T>G (p.Val219Gly)
c.563T>G (p.Val188Gly)
c.-53T>G (n.-53T>G)
c.461T>G (p.Val154Gly)
1g.8325882G>ACA415835724SLC45A1c.555G>A (p.Val185=)
c.657G>A (p.Val219=)
c.564G>A (p.Val188=)
c.-52G>A (n.-52G>A)
c.462G>A (p.Val154=)
 gnomAD v4
1g.8325882G>CCA415835725SLC45A1c.555G>C (p.Val185=)
c.657G>C (p.Val219=)
c.564G>C (p.Val188=)
c.-52G>C (n.-52G>C)
c.462G>C (p.Val154=)
1g.8325882G>TCA415835726SLC45A1c.555G>T (p.Val185=)
c.657G>T (p.Val219=)
c.564G>T (p.Val188=)
c.-52G>T (n.-52G>T)
c.462G>T (p.Val154=)
1g.8325883A>CCA338162329SLC45A1c.556A>C (p.Thr186Pro)
c.658A>C (p.Thr220Pro)
c.565A>C (p.Thr189Pro)
c.-51A>C (n.-51A>C)
c.463A>C (p.Thr155Pro)
1g.8325883A>GCA338162331SLC45A1c.556A>G (p.Thr186Ala)
c.658A>G (p.Thr220Ala)
c.565A>G (p.Thr189Ala)
c.-51A>G (n.-51A>G)
c.463A>G (p.Thr155Ala)
 gnomAD v4
1g.8325883A>TCA338162332SLC45A1c.556A>T (p.Thr186Ser)
c.658A>T (p.Thr220Ser)
c.565A>T (p.Thr189Ser)
c.-51A>T (n.-51A>T)
c.463A>T (p.Thr155Ser)
1g.8325884C>ACA338162334SLC45A1c.557C>A (p.Thr186Asn)
c.659C>A (p.Thr220Asn)
c.566C>A (p.Thr189Asn)
c.-50C>A (n.-50C>A)
c.464C>A (p.Thr155Asn)
1g.8325884C>GCA338162337SLC45A1c.557C>G (p.Thr186Ser)
c.659C>G (p.Thr220Ser)
c.566C>G (p.Thr189Ser)
c.-50C>G (n.-50C>G)
c.464C>G (p.Thr155Ser)
1g.8325884C>TCA338162335SLC45A1c.557C>T (p.Thr186Ile)
c.659C>T (p.Thr220Ile)
c.566C>T (p.Thr189Ile)
c.-50C>T (n.-50C>T)
c.464C>T (p.Thr155Ile)
 dbSNP
1g.8325885C>ACA415835728SLC45A1c.558C>A (p.Thr186=)
c.660C>A (p.Thr220=)
c.567C>A (p.Thr189=)
c.-49C>A (n.-49C>A)
c.465C>A (p.Thr155=)
1g.8325885C=CA1152270553SLC45A1c.558C= (p.Thr186=)
c.660C= (p.Thr220=)
c.567C= (p.Thr189=)
c.-49C= (n.-49C=)
c.465C= (p.Thr155=)
1g.8325885C>GCA415835729SLC45A1c.558C>G (p.Thr186=)
c.660C>G (p.Thr220=)
c.567C>G (p.Thr189=)
c.-49C>G (n.-49C>G)
c.465C>G (p.Thr155=)
1g.8325885C>TCA570128SLC45A1c.558C>T (p.Thr186=)
c.660C>T (p.Thr220=)
c.567C>T (p.Thr189=)
c.-49C>T (n.-49C>T)
c.465C>T (p.Thr155=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8325886G>ACA570129SLC45A1c.559G>A (p.Gly187Arg)
c.661G>A (p.Gly221Arg)
c.568G>A (p.Gly190Arg)
c.-48G>A (n.-48G>A)
c.466G>A (p.Gly156Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325886G>CCA338162340SLC45A1c.559G>C (p.Gly187Arg)
c.661G>C (p.Gly221Arg)
c.568G>C (p.Gly190Arg)
c.-48G>C (n.-48G>C)
c.466G>C (p.Gly156Arg)
1g.8325886G=CA1142119550SLC45A1c.559G= (p.Gly187=)
c.661G= (p.Gly221=)
c.568G= (p.Gly190=)
c.-48G= (n.-48G=)
c.466G= (p.Gly156=)
1g.8325886G>TCA338162343SLC45A1c.559G>T (p.Gly187Trp)
c.661G>T (p.Gly221Trp)
c.568G>T (p.Gly190Trp)
c.-48G>T (n.-48G>T)
c.466G>T (p.Gly156Trp)
1g.8325887G>ACA338162345SLC45A1c.560G>A (p.Gly187Glu)
c.662G>A (p.Gly221Glu)
c.569G>A (p.Gly190Glu)
c.-47G>A (n.-47G>A)
c.467G>A (p.Gly156Glu)
1g.8325887G>CCA338162349SLC45A1c.560G>C (p.Gly187Ala)
c.662G>C (p.Gly221Ala)
c.569G>C (p.Gly190Ala)
c.-47G>C (n.-47G>C)
c.467G>C (p.Gly156Ala)
1g.8325887G>TCA338162346SLC45A1c.560G>T (p.Gly187Val)
c.662G>T (p.Gly221Val)
c.569G>T (p.Gly190Val)
c.-47G>T (n.-47G>T)
c.467G>T (p.Gly156Val)
1g.8325888G>ACA415835733SLC45A1c.561G>A (p.Gly187=)
c.663G>A (p.Gly221=)
c.570G>A (p.Gly190=)
c.-46G>A (n.-46G>A)
c.468G>A (p.Gly156=)
1g.8325888G>CCA415835732SLC45A1c.561G>C (p.Gly187=)
c.663G>C (p.Gly221=)
c.570G>C (p.Gly190=)
c.-46G>C (n.-46G>C)
c.468G>C (p.Gly156=)
1g.8325888G>TCA415835731SLC45A1c.561G>T (p.Gly187=)
c.663G>T (p.Gly221=)
c.570G>T (p.Gly190=)
c.-46G>T (n.-46G>T)
c.468G>T (p.Gly156=)
 dbSNP gnomAD v4 COSMIC COSMIC
1g.8325889A>CCA338162350SLC45A1c.562A>C (p.Asn188His)
c.664A>C (p.Asn222His)
c.571A>C (p.Asn191His)
c.-45A>C (n.-45A>C)
c.469A>C (p.Asn157His)
1g.8325889A>GCA338162351SLC45A1c.562A>G (p.Asn188Asp)
c.664A>G (p.Asn222Asp)
c.571A>G (p.Asn191Asp)
c.-45A>G (n.-45A>G)
c.469A>G (p.Asn157Asp)
1g.8325889A>TCA338162353SLC45A1c.562A>T (p.Asn188Tyr)
c.664A>T (p.Asn222Tyr)
c.571A>T (p.Asn191Tyr)
c.-45A>T (n.-45A>T)
c.469A>T (p.Asn157Tyr)
1g.8325890A>CCA338162355SLC45A1c.563A>C (p.Asn188Thr)
c.665A>C (p.Asn222Thr)
c.572A>C (p.Asn191Thr)
c.-44A>C (n.-44A>C)
c.470A>C (p.Asn157Thr)
1g.8325890A>GCA338162357SLC45A1c.563A>G (p.Asn188Ser)
c.665A>G (p.Asn222Ser)
c.572A>G (p.Asn191Ser)
c.-44A>G (n.-44A>G)
c.470A>G (p.Asn157Ser)
 gnomAD v4
1g.8325890A>TCA338162358SLC45A1c.563A>T (p.Asn188Ile)
c.665A>T (p.Asn222Ile)
c.572A>T (p.Asn191Ile)
c.-44A>T (n.-44A>T)
c.470A>T (p.Asn157Ile)
1g.8325891C>ACA338162361SLC45A1c.564C>A (p.Asn188Lys)
c.666C>A (p.Asn222Lys)
c.573C>A (p.Asn191Lys)
c.-43C>A (n.-43C>A)
c.471C>A (p.Asn157Lys)
1g.8325891C=CA1152270555SLC45A1c.564C= (p.Asn188=)
c.666C= (p.Asn222=)
c.573C= (p.Asn191=)
c.-43C= (n.-43C=)
c.471C= (p.Asn157=)
1g.8325891C>GCA338162362SLC45A1c.564C>G (p.Asn188Lys)
c.666C>G (p.Asn222Lys)
c.573C>G (p.Asn191Lys)
c.-43C>G (n.-43C>G)
c.471C>G (p.Asn157Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.8325891C>TCA415835735SLC45A1c.564C>T (p.Asn188=)
c.666C>T (p.Asn222=)
c.573C>T (p.Asn191=)
c.-43C>T (n.-43C>T)
c.471C>T (p.Asn157=)
 gnomAD v4
1g.8325892C>ACA338162364SLC45A1c.565C>A (p.His189Asn)
c.667C>A (p.His223Asn)
c.574C>A (p.His192Asn)
c.-42C>A (n.-42C>A)
c.472C>A (p.His158Asn)
1g.8325892C>GCA338162365SLC45A1c.565C>G (p.His189Asp)
c.667C>G (p.His223Asp)
c.574C>G (p.His192Asp)
c.-42C>G (n.-42C>G)
c.472C>G (p.His158Asp)
1g.8325892C>TCA338162367SLC45A1c.565C>T (p.His189Tyr)
c.667C>T (p.His223Tyr)
c.574C>T (p.His192Tyr)
c.-42C>T (n.-42C>T)
c.472C>T (p.His158Tyr)
1g.8325893A>CCA338162372SLC45A1c.566A>C (p.His189Pro)
c.668A>C (p.His223Pro)
c.575A>C (p.His192Pro)
c.-41A>C (n.-41A>C)
c.473A>C (p.His158Pro)
1g.8325893A>GCA338162370SLC45A1c.566A>G (p.His189Arg)
c.668A>G (p.His223Arg)
c.575A>G (p.His192Arg)
c.-41A>G (n.-41A>G)
c.473A>G (p.His158Arg)
1g.8325893A>TCA338162369SLC45A1c.566A>T (p.His189Leu)
c.668A>T (p.His223Leu)
c.575A>T (p.His192Leu)
c.-41A>T (n.-41A>T)
c.473A>T (p.His158Leu)
1g.8325894C>ACA338162374SLC45A1c.567C>A (p.His189Gln)
c.669C>A (p.His223Gln)
c.576C>A (p.His192Gln)
c.-40C>A (n.-40C>A)
c.474C>A (p.His158Gln)
1g.8325894C=CA1147849243SLC45A1c.567C= (p.His189=)
c.669C= (p.His223=)
c.576C= (p.His192=)
c.-40C= (n.-40C=)
c.474C= (p.His158=)
1g.8325894C>GCA17660000SLC45A1c.567C>G (p.His189Gln)
c.669C>G (p.His223Gln)
c.576C>G (p.His192Gln)
c.-40C>G (n.-40C>G)
c.474C>G (p.His158Gln)
 dbSNP
1g.8325894C>TCA415835738SLC45A1c.567C>T (p.His189=)
c.669C>T (p.His223=)
c.576C>T (p.His192=)
c.-40C>T (n.-40C>T)
c.474C>T (p.His158=)
1g.8325895A=CA1152270561SLC45A1c.568A= (p.Lys190=)
c.670A= (p.Lys224=)
c.577A= (p.Lys193=)
c.-39A= (n.-39A=)
c.475A= (p.Lys159=)
1g.8325895A>CCA338162376SLC45A1c.568A>C (p.Lys190Gln)
c.670A>C (p.Lys224Gln)
c.577A>C (p.Lys193Gln)
c.-39A>C (n.-39A>C)
c.475A>C (p.Lys159Gln)
1g.8325895A>GCA570130SLC45A1c.568A>G (p.Lys190Glu)
c.670A>G (p.Lys224Glu)
c.577A>G (p.Lys193Glu)
c.-39A>G (n.-39A>G)
c.475A>G (p.Lys159Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325895A>TCA338162379SLC45A1c.568A>T (p.Lys190Ter)
c.670A>T (p.Lys224Ter)
c.577A>T (p.Lys193Ter)
c.-39A>T (n.-39A>T)
c.475A>T (p.Lys159Ter)
1g.8325896A=CA1152270563SLC45A1c.569A= (p.Lys190=)
c.671A= (p.Lys224=)
c.578A= (p.Lys193=)
c.-38A= (n.-38A=)
c.476A= (p.Lys159=)
1g.8325896A>CCA338162381SLC45A1c.569A>C (p.Lys190Thr)
c.671A>C (p.Lys224Thr)
c.578A>C (p.Lys193Thr)
c.-38A>C (n.-38A>C)
c.476A>C (p.Lys159Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8325896A>GCA338162385SLC45A1c.569A>G (p.Lys190Arg)
c.671A>G (p.Lys224Arg)
c.578A>G (p.Lys193Arg)
c.-38A>G (n.-38A>G)
c.476A>G (p.Lys159Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.8325896A>TCA338162386SLC45A1c.569A>T (p.Lys190Met)
c.671A>T (p.Lys224Met)
c.578A>T (p.Lys193Met)
c.-38A>T (n.-38A>T)
c.476A>T (p.Lys159Met)
1g.8325897G>ACA570131SLC45A1c.570G>A (p.Lys190=)
c.672G>A (p.Lys224=)
c.579G>A (p.Lys193=)
c.-37G>A (n.-37G>A)
c.477G>A (p.Lys159=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325897G>CCA338162388SLC45A1c.570G>C (p.Lys190Asn)
c.672G>C (p.Lys224Asn)
c.579G>C (p.Lys193Asn)
c.-37G>C (n.-37G>C)
c.477G>C (p.Lys159Asn)
 gnomAD v4
1g.8325897G=CA1152270566SLC45A1c.570G= (p.Lys190=)
c.672G= (p.Lys224=)
c.579G= (p.Lys193=)
c.-37G= (n.-37G=)
c.477G= (p.Lys159=)
1g.8325897G>TCA338162390SLC45A1c.570G>T (p.Lys190Asn)
c.672G>T (p.Lys224Asn)
c.579G>T (p.Lys193Asn)
c.-37G>T (n.-37G>T)
c.477G>T (p.Lys159Asn)
 dbSNP
1g.8325898T>ACA338162395SLC45A1c.571T>A (p.Trp191Arg)
c.673T>A (p.Trp225Arg)
c.580T>A (p.Trp194Arg)
c.-36T>A (n.-36T>A)
c.478T>A (p.Trp160Arg)
1g.8325898T>CCA570132SLC45A1c.571T>C (p.Trp191Arg)
c.673T>C (p.Trp225Arg)
c.580T>C (p.Trp194Arg)
c.-36T>C (n.-36T>C)
c.478T>C (p.Trp160Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325898T>GCA338162392SLC45A1c.571T>G (p.Trp191Gly)
c.673T>G (p.Trp225Gly)
c.580T>G (p.Trp194Gly)
c.-36T>G (n.-36T>G)
c.478T>G (p.Trp160Gly)
1g.8325898T=CA1152270569SLC45A1c.571T= (p.Trp191=)
c.673T= (p.Trp225=)
c.580T= (p.Trp194=)
c.-36T= (n.-36T=)
c.478T= (p.Trp160=)
1g.8325899G>ACA338162396SLC45A1c.572G>A (p.Trp191Ter)
c.674G>A (p.Trp225Ter)
c.581G>A (p.Trp194Ter)
c.-35G>A (n.-35G>A)
c.479G>A (p.Trp160Ter)
 gnomAD v4
1g.8325899G>CCA338162398SLC45A1c.572G>C (p.Trp191Ser)
c.674G>C (p.Trp225Ser)
c.581G>C (p.Trp194Ser)
c.-35G>C (n.-35G>C)
c.479G>C (p.Trp160Ser)
1g.8325899G>TCA338162400SLC45A1c.572G>T (p.Trp191Leu)
c.674G>T (p.Trp225Leu)
c.581G>T (p.Trp194Leu)
c.-35G>T (n.-35G>T)
c.479G>T (p.Trp160Leu)
1g.8325900G>ACA338162402SLC45A1c.573G>A (p.Trp191Ter)
c.675G>A (p.Trp225Ter)
c.582G>A (p.Trp194Ter)
c.-34G>A (n.-34G>A)
c.480G>A (p.Trp160Ter)
1g.8325900G>CCA338162403SLC45A1c.573G>C (p.Trp191Cys)
c.675G>C (p.Trp225Cys)
c.582G>C (p.Trp194Cys)
c.-34G>C (n.-34G>C)
c.480G>C (p.Trp160Cys)
1g.8325900G>TCA338162404SLC45A1c.573G>T (p.Trp191Cys)
c.675G>T (p.Trp225Cys)
c.582G>T (p.Trp194Cys)
c.-34G>T (n.-34G>T)
c.480G>T (p.Trp160Cys)
1g.8325901G>ACA338162409SLC45A1c.574G>A (p.Gly192Ser)
c.676G>A (p.Gly226Ser)
c.583G>A (p.Gly195Ser)
c.-33G>A (n.-33G>A)
c.481G>A (p.Gly161Ser)
 gnomAD v4
1g.8325901G>CCA338162406SLC45A1c.574G>C (p.Gly192Arg)
c.676G>C (p.Gly226Arg)
c.583G>C (p.Gly195Arg)
c.-33G>C (n.-33G>C)
c.481G>C (p.Gly161Arg)
1g.8325901G>TCA338162407SLC45A1c.574G>T (p.Gly192Cys)
c.676G>T (p.Gly226Cys)
c.583G>T (p.Gly195Cys)
c.-33G>T (n.-33G>T)
c.481G>T (p.Gly161Cys)
1g.8325902G>ACA338162411SLC45A1c.575G>A (p.Gly192Asp)
c.677G>A (p.Gly226Asp)
c.584G>A (p.Gly195Asp)
c.-32G>A (n.-32G>A)
c.482G>A (p.Gly161Asp)
1g.8325902G>CCA338162413SLC45A1c.575G>C (p.Gly192Ala)
c.677G>C (p.Gly226Ala)
c.584G>C (p.Gly195Ala)
c.-32G>C (n.-32G>C)
c.482G>C (p.Gly161Ala)
 gnomAD v4
1g.8325902G>TCA338162415SLC45A1c.575G>T (p.Gly192Val)
c.677G>T (p.Gly226Val)
c.584G>T (p.Gly195Val)
c.-32G>T (n.-32G>T)
c.482G>T (p.Gly161Val)
 gnomAD v4
1g.8325903C>ACA415835752SLC45A1c.576C>A (p.Gly192=)
c.678C>A (p.Gly226=)
c.585C>A (p.Gly195=)
c.-31C>A (n.-31C>A)
c.483C>A (p.Gly161=)
 dbSNP gnomAD v2 gnomAD v4
1g.8325903C=CA1152270571SLC45A1c.576C= (p.Gly192=)
c.678C= (p.Gly226=)
c.585C= (p.Gly195=)
c.-31C= (n.-31C=)
c.483C= (p.Gly161=)
1g.8325903C>GCA415835751SLC45A1c.576C>G (p.Gly192=)
c.678C>G (p.Gly226=)
c.585C>G (p.Gly195=)
c.-31C>G (n.-31C>G)
c.483C>G (p.Gly161=)
1g.8325903C>TCA415835750SLC45A1c.576C>T (p.Gly192=)
c.678C>T (p.Gly226=)
c.585C>T (p.Gly195=)
c.-31C>T (n.-31C>T)
c.483C>T (p.Gly161=)
1g.8325904C>ACA338162417SLC45A1c.577C>A (p.Leu193Met)
c.679C>A (p.Leu227Met)
c.586C>A (p.Leu196Met)
c.-30C>A (n.-30C>A)
c.484C>A (p.Leu162Met)
1g.8325904C=CA1152270576SLC45A1c.577C= (p.Leu193=)
c.679C= (p.Leu227=)
c.586C= (p.Leu196=)
c.-30C= (n.-30C=)
c.484C= (p.Leu162=)
1g.8325904C>GCA338162418SLC45A1c.577C>G (p.Leu193Val)
c.679C>G (p.Leu227Val)
c.586C>G (p.Leu196Val)
c.-30C>G (n.-30C>G)
c.484C>G (p.Leu162Val)
1g.8325904C>TCA415835755SLC45A1c.577C>T (p.Leu193=)
c.679C>T (p.Leu227=)
c.586C>T (p.Leu196=)
c.-30C>T (n.-30C>T)
c.484C>T (p.Leu162=)
 dbSNP gnomAD v2 gnomAD v4
1g.8325905T>ACA338162419SLC45A1c.578T>A (p.Leu193Gln)
c.680T>A (p.Leu227Gln)
c.587T>A (p.Leu196Gln)
c.-29T>A (n.-29T>A)
c.485T>A (p.Leu162Gln)
1g.8325905T>CCA338162421SLC45A1c.578T>C (p.Leu193Pro)
c.680T>C (p.Leu227Pro)
c.587T>C (p.Leu196Pro)
c.-29T>C (n.-29T>C)
c.485T>C (p.Leu162Pro)
1g.8325905T>GCA338162420SLC45A1c.578T>G (p.Leu193Arg)
c.680T>G (p.Leu227Arg)
c.587T>G (p.Leu196Arg)
c.-29T>G (n.-29T>G)
c.485T>G (p.Leu162Arg)
1g.8325906G>ACA415835756SLC45A1c.579G>A (p.Leu193=)
c.681G>A (p.Leu227=)
c.588G>A (p.Leu196=)
c.-28G>A (n.-28G>A)
c.486G>A (p.Leu162=)
1g.8325906G>CCA415835757SLC45A1c.579G>C (p.Leu193=)
c.681G>C (p.Leu227=)
c.588G>C (p.Leu196=)
c.-28G>C (n.-28G>C)
c.486G>C (p.Leu162=)
1g.8325906G>TCA415835758SLC45A1c.579G>T (p.Leu193=)
c.681G>T (p.Leu227=)
c.588G>T (p.Leu196=)
c.-28G>T (n.-28G>T)
c.486G>T (p.Leu162=)
1g.8325907C>ACA338162422SLC45A1c.580C>A (p.Leu194Met)
c.682C>A (p.Leu228Met)
c.589C>A (p.Leu197Met)
c.-27C>A (n.-27C>A)
c.487C>A (p.Leu163Met)
1g.8325907C>GCA338162423SLC45A1c.580C>G (p.Leu194Val)
c.682C>G (p.Leu228Val)
c.589C>G (p.Leu197Val)
c.-27C>G (n.-27C>G)
c.487C>G (p.Leu163Val)
1g.8325907C>TCA415835759SLC45A1c.580C>T (p.Leu194=)
c.682C>T (p.Leu228=)
c.589C>T (p.Leu197=)
c.-27C>T (n.-27C>T)
c.487C>T (p.Leu163=)
1g.8325908T>ACA338162424SLC45A1c.581T>A (p.Leu194Gln)
c.683T>A (p.Leu228Gln)
c.590T>A (p.Leu197Gln)
c.-26T>A (n.-26T>A)
c.488T>A (p.Leu163Gln)
1g.8325908T>CCA338162425SLC45A1c.581T>C (p.Leu194Pro)
c.683T>C (p.Leu228Pro)
c.590T>C (p.Leu197Pro)
c.-26T>C (n.-26T>C)
c.488T>C (p.Leu163Pro)
1g.8325908T>GCA338162426SLC45A1c.581T>G (p.Leu194Arg)
c.683T>G (p.Leu228Arg)
c.590T>G (p.Leu197Arg)
c.-26T>G (n.-26T>G)
c.488T>G (p.Leu163Arg)
1g.8325909G>ACA415835764SLC45A1c.582G>A (p.Leu194=)
c.684G>A (p.Leu228=)
c.591G>A (p.Leu197=)
c.-25G>A (n.-25G>A)
c.489G>A (p.Leu163=)
1g.8325909G>CCA415835766SLC45A1c.582G>C (p.Leu194=)
c.684G>C (p.Leu228=)
c.591G>C (p.Leu197=)
c.-25G>C (n.-25G>C)
c.489G>C (p.Leu163=)
1g.8325909G>TCA415835767SLC45A1c.582G>T (p.Leu194=)
c.684G>T (p.Leu228=)
c.591G>T (p.Leu197=)
c.-25G>T (n.-25G>T)
c.489G>T (p.Leu163=)
1g.8325910C>ACA338162427SLC45A1c.583C>A (p.Leu195Met)
c.685C>A (p.Leu229Met)
c.592C>A (p.Leu198Met)
c.-24C>A (n.-24C>A)
c.490C>A (p.Leu164Met)
1g.8325910C>GCA338162428SLC45A1c.583C>G (p.Leu195Val)
c.685C>G (p.Leu229Val)
c.592C>G (p.Leu198Val)
c.-24C>G (n.-24C>G)
c.490C>G (p.Leu164Val)
1g.8325910C>TCA415835769SLC45A1c.583C>T (p.Leu195=)
c.685C>T (p.Leu229=)
c.592C>T (p.Leu198=)
c.-24C>T (n.-24C>T)
c.490C>T (p.Leu164=)
1g.8325911T>ACA338162430SLC45A1c.584T>A (p.Leu195Gln)
c.686T>A (p.Leu229Gln)
c.593T>A (p.Leu198Gln)
c.-23T>A (n.-23T>A)
c.491T>A (p.Leu164Gln)
1g.8325911T>CCA338162431SLC45A1c.584T>C (p.Leu195Pro)
c.686T>C (p.Leu229Pro)
c.593T>C (p.Leu198Pro)
c.-23T>C (n.-23T>C)
c.491T>C (p.Leu164Pro)
1g.8325911T>GCA338162433SLC45A1c.584T>G (p.Leu195Arg)
c.686T>G (p.Leu229Arg)
c.593T>G (p.Leu198Arg)
c.-23T>G (n.-23T>G)
c.491T>G (p.Leu164Arg)
1g.8325912G>ACA415835770SLC45A1c.585G>A (p.Leu195=)
c.687G>A (p.Leu229=)
c.594G>A (p.Leu198=)
c.-22G>A (n.-22G>A)
c.492G>A (p.Leu164=)
1g.8325912G>CCA415835772SLC45A1c.585G>C (p.Leu195=)
c.687G>C (p.Leu229=)
c.594G>C (p.Leu198=)
c.-22G>C (n.-22G>C)
c.492G>C (p.Leu164=)
1g.8325912G>TCA415835773SLC45A1c.585G>T (p.Leu195=)
c.687G>T (p.Leu229=)
c.594G>T (p.Leu198=)
c.-22G>T (n.-22G>T)
c.492G>T (p.Leu164=)
1g.8325913A>CCA338162438SLC45A1c.586A>C (p.Thr196Pro)
c.688A>C (p.Thr230Pro)
c.595A>C (p.Thr199Pro)
c.-21A>C (n.-21A>C)
c.493A>C (p.Thr165Pro)
1g.8325913A>GCA338162437SLC45A1c.586A>G (p.Thr196Ala)
c.688A>G (p.Thr230Ala)
c.595A>G (p.Thr199Ala)
c.-21A>G (n.-21A>G)
c.493A>G (p.Thr165Ala)
1g.8325913A>TCA338162435SLC45A1c.586A>T (p.Thr196Ser)
c.688A>T (p.Thr230Ser)
c.595A>T (p.Thr199Ser)
c.-21A>T (n.-21A>T)
c.493A>T (p.Thr165Ser)
1g.8325914C>ACA338162439SLC45A1c.587C>A (p.Thr196Asn)
c.689C>A (p.Thr230Asn)
c.596C>A (p.Thr199Asn)
c.-20C>A (n.-20C>A)
c.494C>A (p.Thr165Asn)
1g.8325914C>GCA338162441SLC45A1c.587C>G (p.Thr196Ser)
c.689C>G (p.Thr230Ser)
c.596C>G (p.Thr199Ser)
c.-20C>G (n.-20C>G)
c.494C>G (p.Thr165Ser)
1g.8325914C>TCA338162440SLC45A1c.587C>T (p.Thr196Ile)
c.689C>T (p.Thr230Ile)
c.596C>T (p.Thr199Ile)
c.-20C>T (n.-20C>T)
c.494C>T (p.Thr165Ile)
1g.8325915C>ACA415835778SLC45A1c.588C>A (p.Thr196=)
c.690C>A (p.Thr230=)
c.597C>A (p.Thr199=)
c.-19C>A (n.-19C>A)
c.495C>A (p.Thr165=)
1g.8325915C=CA1144130525SLC45A1c.588C= (p.Thr196=)
c.690C= (p.Thr230=)
c.597C= (p.Thr199=)
c.-19C= (n.-19C=)
c.495C= (p.Thr165=)
1g.8325915C>GCA415835779SLC45A1c.588C>G (p.Thr196=)
c.690C>G (p.Thr230=)
c.597C>G (p.Thr199=)
c.-19C>G (n.-19C>G)
c.495C>G (p.Thr165=)
1g.8325915C>TCA570133SLC45A1c.588C>T (p.Thr196=)
c.690C>T (p.Thr230=)
c.597C>T (p.Thr199=)
c.-19C>T (n.-19C>T)
c.495C>T (p.Thr165=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325916G>ACA570134SLC45A1c.589G>A (p.Val197Met)
c.691G>A (p.Val231Met)
c.598G>A (p.Val200Met)
c.-18G>A (n.-18G>A)
c.496G>A (p.Val166Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325916G>CCA338162445SLC45A1c.589G>C (p.Val197Leu)
c.691G>C (p.Val231Leu)
c.598G>C (p.Val200Leu)
c.-18G>C (n.-18G>C)
c.496G>C (p.Val166Leu)
1g.8325916G=CA1152270580SLC45A1c.589G= (p.Val197=)
c.691G= (p.Val231=)
c.598G= (p.Val200=)
c.-18G= (n.-18G=)
c.496G= (p.Val166=)
1g.8325916G>TCA338162447SLC45A1c.589G>T (p.Val197Leu)
c.691G>T (p.Val231Leu)
c.598G>T (p.Val200Leu)
c.-18G>T (n.-18G>T)
c.496G>T (p.Val166Leu)
1g.8325916_8325917insGACTTCGGGGACCTGCACCCCCAGAGGTCCTTCCGGGAGCTGCTTTTCAACGGCTGCATTCTCCA2643069218SLC45A1c.589_590insGACTTCGGGGACCTGCACCCCCAGAGGTCCTTCCGGGAGCTGCTTTTCAACGGCTGCATTCTC (p.Val197delinsGlyLeuArgGlyProAlaProProGluValLeuProGlyAlaAlaPheGlnArgLeuHisSerLeu)
c.691_692insGACTTCGGGGACCTGCACCCCCAGAGGTCCTTCCGGGAGCTGCTTTTCAACGGCTGCATTCTC (p.Val231delinsGlyLeuArgGlyProAlaProProGluValLeuProGlyAlaAlaPheGlnArgLeuHisSerLeu)
c.598_599insGACTTCGGGGACCTGCACCCCCAGAGGTCCTTCCGGGAGCTGCTTTTCAACGGCTGCATTCTC (p.Val200delinsGlyLeuArgGlyProAlaProProGluValLeuProGlyAlaAlaPheGlnArgLeuHisSerLeu)
c.-18_-17insGACTTCGGGGACCTGCACCCCCAGAGGTCCTTCCGGGAGCTGCTTTTCAACGGCTGCATTCTC (n.-18_-17insGACTTCGGGGACCTGCACCCCCAGAGGTCCTTCCGGGAGCTGCTTTTCAACGGCTGCATTCTC)
c.496_497insGACTTCGGGGACCTGCACCCCCAGAGGTCCTTCCGGGAGCTGCTTTTCAACGGCTGCATTCTC (p.Val166delinsGlyLeuArgGlyProAlaProProGluValLeuProGlyAlaAlaPheGlnArgLeuHisSerLeu)
 gnomAD v4
1g.8325917T>ACA338162449SLC45A1c.590T>A (p.Val197Glu)
c.692T>A (p.Val231Glu)
c.599T>A (p.Val200Glu)
c.-17T>A (n.-17T>A)
c.497T>A (p.Val166Glu)
1g.8325917T>CCA338162450SLC45A1c.590T>C (p.Val197Ala)
c.692T>C (p.Val231Ala)
c.599T>C (p.Val200Ala)
c.-17T>C (n.-17T>C)
c.497T>C (p.Val166Ala)
1g.8325917T>GCA338162452SLC45A1c.590T>G (p.Val197Gly)
c.692T>G (p.Val231Gly)
c.599T>G (p.Val200Gly)
c.-17T>G (n.-17T>G)
c.497T>G (p.Val166Gly)
1g.8325918G>ACA415835783SLC45A1c.591G>A (p.Val197=)
c.693G>A (p.Val231=)
c.600G>A (p.Val200=)
c.-16G>A (n.-16G>A)
c.498G>A (p.Val166=)
1g.8325918G>CCA415835784SLC45A1c.591G>C (p.Val197=)
c.693G>C (p.Val231=)
c.600G>C (p.Val200=)
c.-16G>C (n.-16G>C)
c.498G>C (p.Val166=)
1g.8325918G>TCA415835785SLC45A1c.591G>T (p.Val197=)
c.693G>T (p.Val231=)
c.600G>T (p.Val200=)
c.-16G>T (n.-16G>T)
c.498G>T (p.Val166=)
1g.8325919T>ACA338162453SLC45A1c.592T>A (p.Cys198Ser)
c.694T>A (p.Cys232Ser)
c.601T>A (p.Cys201Ser)
c.-15T>A (n.-15T>A)
c.499T>A (p.Cys167Ser)
1g.8325919T>CCA338162455SLC45A1c.592T>C (p.Cys198Arg)
c.694T>C (p.Cys232Arg)
c.601T>C (p.Cys201Arg)
c.-15T>C (n.-15T>C)
c.499T>C (p.Cys167Arg)
1g.8325919T>GCA338162457SLC45A1c.592T>G (p.Cys198Gly)
c.694T>G (p.Cys232Gly)
c.601T>G (p.Cys201Gly)
c.-15T>G (n.-15T>G)
c.499T>G (p.Cys167Gly)
1g.8325920G>ACA338162462SLC45A1c.593G>A (p.Cys198Tyr)
c.695G>A (p.Cys232Tyr)
c.602G>A (p.Cys201Tyr)
c.-14G>A (n.-14G>A)
c.500G>A (p.Cys167Tyr)
1g.8325920G>CCA338162460SLC45A1c.593G>C (p.Cys198Ser)
c.695G>C (p.Cys232Ser)
c.602G>C (p.Cys201Ser)
c.-14G>C (n.-14G>C)
c.500G>C (p.Cys167Ser)
1g.8325920G>TCA338162459SLC45A1c.593G>T (p.Cys198Phe)
c.695G>T (p.Cys232Phe)
c.602G>T (p.Cys201Phe)
c.-14G>T (n.-14G>T)
c.500G>T (p.Cys167Phe)
1g.8325921C>ACA338162465SLC45A1c.594C>A (p.Cys198Ter)
c.696C>A (p.Cys232Ter)
c.603C>A (p.Cys201Ter)
c.-13C>A (n.-13C>A)
c.501C>A (p.Cys167Ter)
1g.8325921C=CA1152270582SLC45A1c.594C= (p.Cys198=)
c.696C= (p.Cys232=)
c.603C= (p.Cys201=)
c.-13C= (n.-13C=)
c.501C= (p.Cys167=)
1g.8325921C>GCA338162467SLC45A1c.594C>G (p.Cys198Trp)
c.696C>G (p.Cys232Trp)
c.603C>G (p.Cys201Trp)
c.-13C>G (n.-13C>G)
c.501C>G (p.Cys167Trp)
1g.8325921C>TCA570135SLC45A1c.594C>T (p.Cys198=)
c.696C>T (p.Cys232=)
c.603C>T (p.Cys201=)
c.-13C>T (n.-13C>T)
c.501C>T (p.Cys167=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325922G>ACA338162470SLC45A1c.595G>A (p.Gly199Ser)
c.697G>A (p.Gly233Ser)
c.604G>A (p.Gly202Ser)
c.-12G>A (n.-12G>A)
c.502G>A (p.Gly168Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8325922G>CCA338162471SLC45A1c.595G>C (p.Gly199Arg)
c.697G>C (p.Gly233Arg)
c.604G>C (p.Gly202Arg)
c.-12G>C (n.-12G>C)
c.502G>C (p.Gly168Arg)
1g.8325922G=CA1152270584SLC45A1c.595G= (p.Gly199=)
c.697G= (p.Gly233=)
c.604G= (p.Gly202=)
c.-12G= (n.-12G=)
c.502G= (p.Gly168=)
1g.8325922G>TCA338162473SLC45A1c.595G>T (p.Gly199Cys)
c.697G>T (p.Gly233Cys)
c.604G>T (p.Gly202Cys)
c.-12G>T (n.-12G>T)
c.502G>T (p.Gly168Cys)
 gnomAD v4
1g.8325923G>ACA338162474SLC45A1c.596G>A (p.Gly199Asp)
c.698G>A (p.Gly233Asp)
c.605G>A (p.Gly202Asp)
c.-11G>A (n.-11G>A)
c.503G>A (p.Gly168Asp)
1g.8325923G>CCA338162476SLC45A1c.596G>C (p.Gly199Ala)
c.698G>C (p.Gly233Ala)
c.605G>C (p.Gly202Ala)
c.-11G>C (n.-11G>C)
c.503G>C (p.Gly168Ala)
1g.8325923G>TCA338162477SLC45A1c.596G>T (p.Gly199Val)
c.698G>T (p.Gly233Val)
c.605G>T (p.Gly202Val)
c.-11G>T (n.-11G>T)
c.503G>T (p.Gly168Val)
1g.8325924T>ACA415835790SLC45A1c.597T>A (p.Gly199=)
c.699T>A (p.Gly233=)
c.606T>A (p.Gly202=)
c.-10T>A (n.-10T>A)
c.504T>A (p.Gly168=)
1g.8325924T>CCA17660007SLC45A1c.597T>C (p.Gly199=)
c.699T>C (p.Gly233=)
c.606T>C (p.Gly202=)
c.-10T>C (n.-10T>C)
c.504T>C (p.Gly168=)
 dbSNP
1g.8325924T>GCA415835789SLC45A1c.597T>G (p.Gly199=)
c.699T>G (p.Gly233=)
c.606T>G (p.Gly202=)
c.-10T>G (n.-10T>G)
c.504T>G (p.Gly168=)
 dbSNP
1g.8325924T=CA1152270586SLC45A1c.597T= (p.Gly199=)
c.699T= (p.Gly233=)
c.606T= (p.Gly202=)
c.-10T= (n.-10T=)
c.504T= (p.Gly168=)
1g.8325925G>ACA570136SLC45A1c.598G>A (p.Val200Met)
c.700G>A (p.Val234Met)
c.607G>A (p.Val203Met)
c.-9G>A (n.-9G>A)
c.505G>A (p.Val169Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8325925G>CCA338162479SLC45A1c.598G>C (p.Val200Leu)
c.700G>C (p.Val234Leu)
c.607G>C (p.Val203Leu)
c.-9G>C (n.-9G>C)
c.505G>C (p.Val169Leu)
1g.8325925G=CA1152270589SLC45A1c.598G= (p.Val200=)
c.700G= (p.Val234=)
c.607G= (p.Val203=)
c.-9G= (n.-9G=)
c.505G= (p.Val169=)
1g.8325925G>TCA338162481SLC45A1c.598G>T (p.Val200Leu)
c.700G>T (p.Val234Leu)
c.607G>T (p.Val203Leu)
c.-9G>T (n.-9G>T)
c.505G>T (p.Val169Leu)
1g.8325926T>ACA338162485SLC45A1c.599T>A (p.Val200Glu)
c.701T>A (p.Val234Glu)
c.608T>A (p.Val203Glu)
c.-8T>A (n.-8T>A)
c.506T>A (p.Val169Glu)
1g.8325926T>CCA338162487SLC45A1c.599T>C (p.Val200Ala)
c.701T>C (p.Val234Ala)
c.608T>C (p.Val203Ala)
c.-8T>C (n.-8T>C)
c.506T>C (p.Val169Ala)
1g.8325926T>GCA338162482SLC45A1c.599T>G (p.Val200Gly)
c.701T>G (p.Val234Gly)
c.608T>G (p.Val203Gly)
c.-8T>G (n.-8T>G)
c.506T>G (p.Val169Gly)
1g.8325927G>ACA570137SLC45A1c.600G>A (p.Val200=)
c.702G>A (p.Val234=)
c.609G>A (p.Val203=)
c.-7G>A (n.-7G>A)
c.507G>A (p.Val169=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325927G>CCA415835793SLC45A1c.600G>C (p.Val200=)
c.702G>C (p.Val234=)
c.609G>C (p.Val203=)
c.-7G>C (n.-7G>C)
c.507G>C (p.Val169=)
1g.8325927G=CA1140725574SLC45A1c.600G= (p.Val200=)
c.702G= (p.Val234=)
c.609G= (p.Val203=)
c.-7G= (n.-7G=)
c.507G= (p.Val169=)
1g.8325927G>TCA415835795SLC45A1c.600G>T (p.Val200=)
c.702G>T (p.Val234=)
c.609G>T (p.Val203=)
c.-7G>T (n.-7G>T)
c.507G>T (p.Val169=)
1g.8325928G>ACA338162490SLC45A1c.601G>A (p.Val201Met)
c.703G>A (p.Val235Met)
c.610G>A (p.Val204Met)
c.-6G>A (n.-6G>A)
c.508G>A (p.Val170Met)
1g.8325928G>CCA338162491SLC45A1c.601G>C (p.Val201Leu)
c.703G>C (p.Val235Leu)
c.610G>C (p.Val204Leu)
c.-6G>C (n.-6G>C)
c.508G>C (p.Val170Leu)
 dbSNP
1g.8325928G=CA1152270595SLC45A1c.601G= (p.Val201=)
c.703G= (p.Val235=)
c.610G= (p.Val204=)
c.-6G= (n.-6G=)
c.508G= (p.Val170=)
1g.8325928G>TCA338162492SLC45A1c.601G>T (p.Val201Leu)
c.703G>T (p.Val235Leu)
c.610G>T (p.Val204Leu)
c.-6G>T (n.-6G>T)
c.508G>T (p.Val170Leu)
 gnomAD v4
1g.8325929T>ACA338162494SLC45A1c.602T>A (p.Val201Glu)
c.704T>A (p.Val235Glu)
c.611T>A (p.Val204Glu)
c.-5T>A (n.-5T>A)
c.509T>A (p.Val170Glu)
1g.8325929T>CCA338162495SLC45A1c.602T>C (p.Val201Ala)
c.704T>C (p.Val235Ala)
c.611T>C (p.Val204Ala)
c.-5T>C (n.-5T>C)
c.509T>C (p.Val170Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.8325929T>GCA338162497SLC45A1c.602T>G (p.Val201Gly)
c.704T>G (p.Val235Gly)
c.611T>G (p.Val204Gly)
c.-5T>G (n.-5T>G)
c.509T>G (p.Val170Gly)
1g.8325929T=CA1152270599SLC45A1c.602T= (p.Val201=)
c.704T= (p.Val235=)
c.611T= (p.Val204=)
c.-5T= (n.-5T=)
c.509T= (p.Val170=)
1g.8325930G>ACA570138SLC45A1c.603G>A (p.Val201=)
c.705G>A (p.Val235=)
c.612G>A (p.Val204=)
c.-4G>A (n.-4G>A)
c.510G>A (p.Val170=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8325930G>CCA415835797SLC45A1c.603G>C (p.Val201=)
c.705G>C (p.Val235=)
c.612G>C (p.Val204=)
c.-4G>C (n.-4G>C)
c.510G>C (p.Val170=)
1g.8325930G=CA1152270601SLC45A1c.603G= (p.Val201=)
c.705G= (p.Val235=)
c.612G= (p.Val204=)
c.-4G= (n.-4G=)
c.510G= (p.Val170=)
1g.8325930G>TCA415835802SLC45A1c.603G>T (p.Val201=)
c.705G>T (p.Val235=)
c.612G>T (p.Val204=)
c.-4G>T (n.-4G>T)
c.510G>T (p.Val170=)
1g.8325931C>ACA338162499SLC45A1c.604C>A (p.Leu202Met)
c.706C>A (p.Leu236Met)
c.613C>A (p.Leu205Met)
c.-3C>A (n.-3C>A)
c.511C>A (p.Leu171Met)
1g.8325931C>GCA338162501SLC45A1c.604C>G (p.Leu202Val)
c.706C>G (p.Leu236Val)
c.613C>G (p.Leu205Val)
c.-3C>G (n.-3C>G)
c.511C>G (p.Leu171Val)
1g.8325931C>TCA415835803SLC45A1c.604C>T (p.Leu202=)
c.706C>T (p.Leu236=)
c.613C>T (p.Leu205=)
c.-3C>T (n.-3C>T)
c.511C>T (p.Leu171=)
 COSMIC
1g.8325932T>ACA338162504SLC45A1c.605T>A (p.Leu202Gln)
c.707T>A (p.Leu236Gln)
c.614T>A (p.Leu205Gln)
c.-2T>A (n.-2T>A)
c.512T>A (p.Leu171Gln)
1g.8325932T>CCA338162507SLC45A1c.605T>C (p.Leu202Pro)
c.707T>C (p.Leu236Pro)
c.614T>C (p.Leu205Pro)
c.-2T>C (n.-2T>C)
c.512T>C (p.Leu171Pro)
1g.8325932T>GCA338162512SLC45A1c.605T>G (p.Leu202Arg)
c.707T>G (p.Leu236Arg)
c.614T>G (p.Leu205Arg)
c.-2T>G (n.-2T>G)
c.512T>G (p.Leu171Arg)
1g.8325933G>ACA415835805SLC45A1c.606G>A (p.Leu202=)
c.708G>A (p.Leu236=)
c.615G>A (p.Leu205=)
c.-1G>A (n.-1G>A)
c.513G>A (p.Leu171=)
 gnomAD v4
1g.8325933G>CCA415835806SLC45A1c.606G>C (p.Leu202=)
c.708G>C (p.Leu236=)
c.615G>C (p.Leu205=)
c.-1G>C (n.-1G>C)
c.513G>C (p.Leu171=)
1g.8325933G>TCA415835807SLC45A1c.606G>T (p.Leu202=)
c.708G>T (p.Leu236=)
c.615G>T (p.Leu205=)
c.-1G>T (n.-1G>T)
c.513G>T (p.Leu171=)
1g.8325934A>CCA338162517SLC45A1c.607A>C (p.Met203Leu)
c.709A>C (p.Met237Leu)
c.616A>C (p.Met206Leu)
c.1A>C (p.Met1Leu)
c.514A>C (p.Met172Leu)
1g.8325934A>GCA338162516SLC45A1c.607A>G (p.Met203Val)
c.709A>G (p.Met237Val)
c.616A>G (p.Met206Val)
c.1A>G (p.Met1Val)
c.514A>G (p.Met172Val)
1g.8325934A>TCA338162515SLC45A1c.607A>T (p.Met203Leu)
c.709A>T (p.Met237Leu)
c.616A>T (p.Met206Leu)
c.1A>T (p.Met1Leu)
c.514A>T (p.Met172Leu)
1g.8325935T>ACA338162518SLC45A1c.608T>A (p.Met203Lys)
c.710T>A (p.Met237Lys)
c.617T>A (p.Met206Lys)
c.2T>A (p.Met1Lys)
c.515T>A (p.Met172Lys)
1g.8325935T>CCA338162519SLC45A1c.608T>C (p.Met203Thr)
c.710T>C (p.Met237Thr)
c.617T>C (p.Met206Thr)
c.2T>C (p.Met1Thr)
c.515T>C (p.Met172Thr)
 gnomAD v4
1g.8325935T>GCA338162520SLC45A1c.608T>G (p.Met203Arg)
c.710T>G (p.Met237Arg)
c.617T>G (p.Met206Arg)
c.2T>G (p.Met1Arg)
c.515T>G (p.Met172Arg)
1g.8325936G>ACA338162524SLC45A1c.609G>A (p.Met203Ile)
c.711G>A (p.Met237Ile)
c.618G>A (p.Met206Ile)
c.3G>A (p.Met1Ile)
c.516G>A (p.Met172Ile)
1g.8325936G>CCA338162526SLC45A1c.609G>C (p.Met203Ile)
c.711G>C (p.Met237Ile)
c.618G>C (p.Met206Ile)
c.3G>C (p.Met1Ile)
c.516G>C (p.Met172Ile)
1g.8325936G>TCA338162528SLC45A1c.609G>T (p.Met203Ile)
c.711G>T (p.Met237Ile)
c.618G>T (p.Met206Ile)
c.3G>T (p.Met1Ile)
c.516G>T (p.Met172Ile)
1g.8325937G>ACA338162529SLC45A1c.610G>A (p.Asp204Asn)
c.712G>A (p.Asp238Asn)
c.619G>A (p.Asp207Asn)
c.4G>A (p.Asp2Asn)
c.517G>A (p.Asp173Asn)
 gnomAD v4
1g.8325937G>CCA338162530SLC45A1c.610G>C (p.Asp204His)
c.712G>C (p.Asp238His)
c.619G>C (p.Asp207His)
c.4G>C (p.Asp2His)
c.517G>C (p.Asp173His)
1g.8325937G>TCA338162532SLC45A1c.610G>T (p.Asp204Tyr)
c.712G>T (p.Asp238Tyr)
c.619G>T (p.Asp207Tyr)
c.4G>T (p.Asp2Tyr)
c.517G>T (p.Asp173Tyr)
1g.8325938A=CA1152270603SLC45A1c.611A= (p.Asp204=)
c.713A= (p.Asp238=)
c.620A= (p.Asp207=)
c.5A= (p.Asp2=)
c.518A= (p.Asp173=)
1g.8325938A>CCA338162533SLC45A1c.611A>C (p.Asp204Ala)
c.713A>C (p.Asp238Ala)
c.620A>C (p.Asp207Ala)
c.5A>C (p.Asp2Ala)
c.518A>C (p.Asp173Ala)
1g.8325938A>GCA338162535SLC45A1c.611A>G (p.Asp204Gly)
c.713A>G (p.Asp238Gly)
c.620A>G (p.Asp207Gly)
c.5A>G (p.Asp2Gly)
c.518A>G (p.Asp173Gly)
1g.8325938A>TCA338162537SLC45A1c.611A>T (p.Asp204Val)
c.713A>T (p.Asp238Val)
c.620A>T (p.Asp207Val)
c.5A>T (p.Asp2Val)
c.518A>T (p.Asp173Val)
 dbSNP
1g.8325939C>ACA338162539SLC45A1c.612C>A (p.Asp204Glu)
c.714C>A (p.Asp238Glu)
c.621C>A (p.Asp207Glu)
c.6C>A (p.Asp2Glu)
c.519C>A (p.Asp173Glu)
1g.8325939C=CA1140725577SLC45A1c.612C= (p.Asp204=)
c.714C= (p.Asp238=)
c.621C= (p.Asp207=)
c.6C= (p.Asp2=)
c.519C= (p.Asp173=)
1g.8325939C>GCA338162538SLC45A1c.612C>G (p.Asp204Glu)
c.714C>G (p.Asp238Glu)
c.621C>G (p.Asp207Glu)
c.6C>G (p.Asp2Glu)
c.519C>G (p.Asp173Glu)
1g.8325939C>TCA570139SLC45A1c.612C>T (p.Asp204=)
c.714C>T (p.Asp238=)
c.621C>T (p.Asp207=)
c.6C>T (p.Asp2=)
c.519C>T (p.Asp173=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325940T>ACA338162542SLC45A1c.613T>A (p.Phe205Ile)
c.715T>A (p.Phe239Ile)
c.622T>A (p.Phe208Ile)
c.7T>A (p.Phe3Ile)
c.520T>A (p.Phe174Ile)
1g.8325940T>CCA338162543SLC45A1c.613T>C (p.Phe205Leu)
c.715T>C (p.Phe239Leu)
c.622T>C (p.Phe208Leu)
c.7T>C (p.Phe3Leu)
c.520T>C (p.Phe174Leu)
1g.8325940T>GCA570140SLC45A1c.613T>G (p.Phe205Val)
c.715T>G (p.Phe239Val)
c.622T>G (p.Phe208Val)
c.7T>G (p.Phe3Val)
c.520T>G (p.Phe174Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325940T=CA1148262899SLC45A1c.613T= (p.Phe205=)
c.715T= (p.Phe239=)
c.622T= (p.Phe208=)
c.7T= (p.Phe3=)
c.520T= (p.Phe174=)
1g.8325941T>ACA338162549SLC45A1c.614T>A (p.Phe205Tyr)
c.716T>A (p.Phe239Tyr)
c.623T>A (p.Phe208Tyr)
c.8T>A (p.Phe3Tyr)
c.521T>A (p.Phe174Tyr)
1g.8325941T>CCA338162551SLC45A1c.614T>C (p.Phe205Ser)
c.716T>C (p.Phe239Ser)
c.623T>C (p.Phe208Ser)
c.8T>C (p.Phe3Ser)
c.521T>C (p.Phe174Ser)
1g.8325941T>GCA338162553SLC45A1c.614T>G (p.Phe205Cys)
c.716T>G (p.Phe239Cys)
c.623T>G (p.Phe208Cys)
c.8T>G (p.Phe3Cys)
c.521T>G (p.Phe174Cys)
1g.8325942T>ACA338162554SLC45A1c.615T>A (p.Phe205Leu)
c.717T>A (p.Phe239Leu)
c.624T>A (p.Phe208Leu)
c.9T>A (p.Phe3Leu)
c.522T>A (p.Phe174Leu)
1g.8325942T>CCA415835831SLC45A1c.615T>C (p.Phe205=)
c.717T>C (p.Phe239=)
c.624T>C (p.Phe208=)
c.9T>C (p.Phe3=)
c.522T>C (p.Phe174=)
 dbSNP gnomAD v2 gnomAD v4
1g.8325942T>GCA338162555SLC45A1c.615T>G (p.Phe205Leu)
c.717T>G (p.Phe239Leu)
c.624T>G (p.Phe208Leu)
c.9T>G (p.Phe3Leu)
c.522T>G (p.Phe174Leu)
1g.8325942T=CA1152270610SLC45A1c.615T= (p.Phe205=)
c.717T= (p.Phe239=)
c.624T= (p.Phe208=)
c.9T= (p.Phe3=)
c.522T= (p.Phe174=)
1g.8325943A>CCA338162556SLC45A1c.616A>C (p.Ser206Arg)
c.718A>C (p.Ser240Arg)
c.625A>C (p.Ser209Arg)
c.10A>C (p.Ser4Arg)
c.523A>C (p.Ser175Arg)
1g.8325943A>GCA338162557SLC45A1c.616A>G (p.Ser206Gly)
c.718A>G (p.Ser240Gly)
c.625A>G (p.Ser209Gly)
c.10A>G (p.Ser4Gly)
c.523A>G (p.Ser175Gly)
1g.8325943A>TCA338162558SLC45A1c.616A>T (p.Ser206Cys)
c.718A>T (p.Ser240Cys)
c.625A>T (p.Ser209Cys)
c.10A>T (p.Ser4Cys)
c.523A>T (p.Ser175Cys)
1g.8325944G>ACA338162560SLC45A1c.617G>A (p.Ser206Asn)
c.719G>A (p.Ser240Asn)
c.626G>A (p.Ser209Asn)
c.11G>A (p.Ser4Asn)
c.524G>A (p.Ser175Asn)
1g.8325944G>CCA338162561SLC45A1c.617G>C (p.Ser206Thr)
c.719G>C (p.Ser240Thr)
c.626G>C (p.Ser209Thr)
c.11G>C (p.Ser4Thr)
c.524G>C (p.Ser175Thr)
1g.8325944G>TCA338162562SLC45A1c.617G>T (p.Ser206Ile)
c.719G>T (p.Ser240Ile)
c.626G>T (p.Ser209Ile)
c.11G>T (p.Ser4Ile)
c.524G>T (p.Ser175Ile)
1g.8325945C>ACA338162566SLC45A1c.618C>A (p.Ser206Arg)
c.720C>A (p.Ser240Arg)
c.627C>A (p.Ser209Arg)
c.12C>A (p.Ser4Arg)
c.525C>A (p.Ser175Arg)
 gnomAD v4 COSMIC COSMIC
1g.8325945C=CA1152270614SLC45A1c.618C= (p.Ser206=)
c.720C= (p.Ser240=)
c.627C= (p.Ser209=)
c.12C= (p.Ser4=)
c.525C= (p.Ser175=)
1g.8325945C>GCA338162565SLC45A1c.618C>G (p.Ser206Arg)
c.720C>G (p.Ser240Arg)
c.627C>G (p.Ser209Arg)
c.12C>G (p.Ser4Arg)
c.525C>G (p.Ser175Arg)
1g.8325945C>TCA570141SLC45A1c.618C>T (p.Ser206=)
c.720C>T (p.Ser240=)
c.627C>T (p.Ser209=)
c.12C>T (p.Ser4=)
c.525C>T (p.Ser175=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325946G>ACA570143SLC45A1c.619G>A (p.Ala207Thr)
c.721G>A (p.Ala241Thr)
c.628G>A (p.Ala210Thr)
c.13G>A (p.Ala5Thr)
c.526G>A (p.Ala176Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325946G>CCA570142SLC45A1c.619G>C (p.Ala207Pro)
c.721G>C (p.Ala241Pro)
c.628G>C (p.Ala210Pro)
c.13G>C (p.Ala5Pro)
c.526G>C (p.Ala176Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325946G=CA1141923977SLC45A1c.619G= (p.Ala207=)
c.721G= (p.Ala241=)
c.628G= (p.Ala210=)
c.13G= (p.Ala5=)
c.526G= (p.Ala176=)
1g.8325946G>TCA338162568SLC45A1c.619G>T (p.Ala207Ser)
c.721G>T (p.Ala241Ser)
c.628G>T (p.Ala210Ser)
c.13G>T (p.Ala5Ser)
c.526G>T (p.Ala176Ser)
1g.8325947C>ACA338162569SLC45A1c.620C>A (p.Ala207Asp)
c.722C>A (p.Ala241Asp)
c.629C>A (p.Ala210Asp)
c.14C>A (p.Ala5Asp)
c.527C>A (p.Ala176Asp)
1g.8325947C=CA1142184117SLC45A1c.620C= (p.Ala207=)
c.722C= (p.Ala241=)
c.629C= (p.Ala210=)
c.14C= (p.Ala5=)
c.527C= (p.Ala176=)
1g.8325947C>GCA338162571SLC45A1c.620C>G (p.Ala207Gly)
c.722C>G (p.Ala241Gly)
c.629C>G (p.Ala210Gly)
c.14C>G (p.Ala5Gly)
c.527C>G (p.Ala176Gly)
1g.8325947C>TCA570144SLC45A1c.620C>T (p.Ala207Val)
c.722C>T (p.Ala241Val)
c.629C>T (p.Ala210Val)
c.14C>T (p.Ala5Val)
c.527C>T (p.Ala176Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325948C>ACA415835844SLC45A1c.621C>A (p.Ala207=)
c.723C>A (p.Ala241=)
c.630C>A (p.Ala210=)
c.15C>A (p.Ala5=)
c.528C>A (p.Ala176=)
1g.8325948C=CA1152270624SLC45A1c.621C= (p.Ala207=)
c.723C= (p.Ala241=)
c.630C= (p.Ala210=)
c.15C= (p.Ala5=)
c.528C= (p.Ala176=)
1g.8325948C>GCA415835845SLC45A1c.621C>G (p.Ala207=)
c.723C>G (p.Ala241=)
c.630C>G (p.Ala210=)
c.15C>G (p.Ala5=)
c.528C>G (p.Ala176=)
1g.8325948C>TCA17660017SLC45A1c.621C>T (p.Ala207=)
c.723C>T (p.Ala241=)
c.630C>T (p.Ala210=)
c.15C>T (p.Ala5=)
c.528C>T (p.Ala176=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8325949G>ACA570145SLC45A1c.622G>A (p.Asp208Asn)
c.724G>A (p.Asp242Asn)
c.631G>A (p.Asp211Asn)
c.16G>A (p.Asp6Asn)
c.529G>A (p.Asp177Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325949G>CCA338162575SLC45A1c.622G>C (p.Asp208His)
c.724G>C (p.Asp242His)
c.631G>C (p.Asp211His)
c.16G>C (p.Asp6His)
c.529G>C (p.Asp177His)
 gnomAD v4
1g.8325949G=CA1152270629SLC45A1c.622G= (p.Asp208=)
c.724G= (p.Asp242=)
c.631G= (p.Asp211=)
c.16G= (p.Asp6=)
c.529G= (p.Asp177=)
1g.8325949G>TCA338162576SLC45A1c.622G>T (p.Asp208Tyr)
c.724G>T (p.Asp242Tyr)
c.631G>T (p.Asp211Tyr)
c.16G>T (p.Asp6Tyr)
c.529G>T (p.Asp177Tyr)
1g.8325950A>CCA338162578SLC45A1c.623A>C (p.Asp208Ala)
c.725A>C (p.Asp242Ala)
c.632A>C (p.Asp211Ala)
c.17A>C (p.Asp6Ala)
c.530A>C (p.Asp177Ala)
1g.8325950A>GCA338162579SLC45A1c.623A>G (p.Asp208Gly)
c.725A>G (p.Asp242Gly)
c.632A>G (p.Asp211Gly)
c.17A>G (p.Asp6Gly)
c.530A>G (p.Asp177Gly)
 gnomAD v4
1g.8325950A>TCA338162581SLC45A1c.623A>T (p.Asp208Val)
c.725A>T (p.Asp242Val)
c.632A>T (p.Asp211Val)
c.17A>T (p.Asp6Val)
c.530A>T (p.Asp177Val)
1g.8325951C>ACA338162583SLC45A1c.624C>A (p.Asp208Glu)
c.726C>A (p.Asp242Glu)
c.633C>A (p.Asp211Glu)
c.18C>A (p.Asp6Glu)
c.531C>A (p.Asp177Glu)
1g.8325951C>GCA338162584SLC45A1c.624C>G (p.Asp208Glu)
c.726C>G (p.Asp242Glu)
c.633C>G (p.Asp211Glu)
c.18C>G (p.Asp6Glu)
c.531C>G (p.Asp177Glu)
1g.8325951C>TCA415835849SLC45A1c.624C>T (p.Asp208=)
c.726C>T (p.Asp242=)
c.633C>T (p.Asp211=)
c.18C>T (p.Asp6=)
c.531C>T (p.Asp177=)
1g.8325952T>ACA338162587SLC45A1c.625T>A (p.Ser209Thr)
c.727T>A (p.Ser243Thr)
c.634T>A (p.Ser212Thr)
c.19T>A (p.Ser7Thr)
c.532T>A (p.Ser178Thr)
1g.8325952T>CCA338162589SLC45A1c.625T>C (p.Ser209Pro)
c.727T>C (p.Ser243Pro)
c.634T>C (p.Ser212Pro)
c.19T>C (p.Ser7Pro)
c.532T>C (p.Ser178Pro)
1g.8325952T>GCA338162585SLC45A1c.625T>G (p.Ser209Ala)
c.727T>G (p.Ser243Ala)
c.634T>G (p.Ser212Ala)
c.19T>G (p.Ser7Ala)
c.532T>G (p.Ser178Ala)
1g.8325953C>ACA338162591SLC45A1c.626C>A (p.Ser209Ter)
c.728C>A (p.Ser243Ter)
c.635C>A (p.Ser212Ter)
c.20C>A (p.Ser7Ter)
c.533C>A (p.Ser178Ter)
 dbSNP gnomAD v4
1g.8325953C=CA1148436662SLC45A1c.626C= (p.Ser209=)
c.728C= (p.Ser243=)
c.635C= (p.Ser212=)
c.20C= (p.Ser7=)
c.533C= (p.Ser178=)
1g.8325953C>GCA338162593SLC45A1c.626C>G (p.Ser209Trp)
c.728C>G (p.Ser243Trp)
c.635C>G (p.Ser212Trp)
c.20C>G (p.Ser7Trp)
c.533C>G (p.Ser178Trp)
1g.8325953C>TCA570146SLC45A1c.626C>T (p.Ser209Leu)
c.728C>T (p.Ser243Leu)
c.635C>T (p.Ser212Leu)
c.20C>T (p.Ser7Leu)
c.533C>T (p.Ser178Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325954G>ACA17660021SLC45A1c.627G>A (p.Ser209=)
c.729G>A (p.Ser243=)
c.636G>A (p.Ser212=)
c.21G>A (p.Ser7=)
c.534G>A (p.Ser178=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8325954G>CCA570147SLC45A1c.627G>C (p.Ser209=)
c.729G>C (p.Ser243=)
c.636G>C (p.Ser212=)
c.21G>C (p.Ser7=)
c.534G>C (p.Ser178=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325954G=CA1144083134SLC45A1c.627G= (p.Ser209=)
c.729G= (p.Ser243=)
c.636G= (p.Ser212=)
c.21G= (p.Ser7=)
c.534G= (p.Ser178=)
1g.8325954G>TCA415835855SLC45A1c.627G>T (p.Ser209=)
c.729G>T (p.Ser243=)
c.636G>T (p.Ser212=)
c.21G>T (p.Ser7=)
c.534G>T (p.Ser178=)
1g.8325955G>ACA338162596SLC45A1c.628G>A (p.Ala210Thr)
c.730G>A (p.Ala244Thr)
c.637G>A (p.Ala213Thr)
c.22G>A (p.Ala8Thr)
c.535G>A (p.Ala179Thr)
1g.8325955G>CCA338162598SLC45A1c.628G>C (p.Ala210Pro)
c.730G>C (p.Ala244Pro)
c.637G>C (p.Ala213Pro)
c.22G>C (p.Ala8Pro)
c.535G>C (p.Ala179Pro)
1g.8325955G>TCA338162600SLC45A1c.628G>T (p.Ala210Ser)
c.730G>T (p.Ala244Ser)
c.637G>T (p.Ala213Ser)
c.22G>T (p.Ala8Ser)
c.535G>T (p.Ala179Ser)
1g.8325956C>ACA338162602SLC45A1c.629C>A (p.Ala210Glu)
c.731C>A (p.Ala244Glu)
c.638C>A (p.Ala213Glu)
c.23C>A (p.Ala8Glu)
c.536C>A (p.Ala179Glu)
1g.8325956C=CA1142370835SLC45A1c.629C= (p.Ala210=)
c.731C= (p.Ala244=)
c.638C= (p.Ala213=)
c.23C= (p.Ala8=)
c.536C= (p.Ala179=)
1g.8325956C>GCA338162604SLC45A1c.629C>G (p.Ala210Gly)
c.731C>G (p.Ala244Gly)
c.638C>G (p.Ala213Gly)
c.23C>G (p.Ala8Gly)
c.536C>G (p.Ala179Gly)
1g.8325956C>TCA570148SLC45A1c.629C>T (p.Ala210Val)
c.731C>T (p.Ala244Val)
c.638C>T (p.Ala213Val)
c.23C>T (p.Ala8Val)
c.536C>T (p.Ala179Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325957G>ACA570149SLC45A1c.630G>A (p.Ala210=)
c.732G>A (p.Ala244=)
c.639G>A (p.Ala213=)
c.24G>A (p.Ala8=)
c.537G>A (p.Ala179=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325957G>CCA415835864SLC45A1c.630G>C (p.Ala210=)
c.732G>C (p.Ala244=)
c.639G>C (p.Ala213=)
c.24G>C (p.Ala8=)
c.537G>C (p.Ala179=)
1g.8325957G=CA1140725578SLC45A1c.630G= (p.Ala210=)
c.732G= (p.Ala244=)
c.639G= (p.Ala213=)
c.24G= (p.Ala8=)
c.537G= (p.Ala179=)
1g.8325957G>TCA415835863SLC45A1c.630G>T (p.Ala210=)
c.732G>T (p.Ala244=)
c.639G>T (p.Ala213=)
c.24G>T (p.Ala8=)
c.537G>T (p.Ala179=)
1g.8325958G>ACA338162610SLC45A1c.631G>A (p.Asp211Asn)
c.733G>A (p.Asp245Asn)
c.640G>A (p.Asp214Asn)
c.25G>A (p.Asp9Asn)
c.538G>A (p.Asp180Asn)
 COSMIC COSMIC
1g.8325958G>CCA338162612SLC45A1c.631G>C (p.Asp211His)
c.733G>C (p.Asp245His)
c.640G>C (p.Asp214His)
c.25G>C (p.Asp9His)
c.538G>C (p.Asp180His)
1g.8325958G>TCA338162608SLC45A1c.631G>T (p.Asp211Tyr)
c.733G>T (p.Asp245Tyr)
c.640G>T (p.Asp214Tyr)
c.25G>T (p.Asp9Tyr)
c.538G>T (p.Asp180Tyr)
1g.8325959A>CCA338162613SLC45A1c.632A>C (p.Asp211Ala)
c.734A>C (p.Asp245Ala)
c.641A>C (p.Asp214Ala)
c.26A>C (p.Asp9Ala)
c.539A>C (p.Asp180Ala)
1g.8325959A>GCA338162614SLC45A1c.632A>G (p.Asp211Gly)
c.734A>G (p.Asp245Gly)
c.641A>G (p.Asp214Gly)
c.26A>G (p.Asp9Gly)
c.539A>G (p.Asp180Gly)
1g.8325959A>TCA338162616SLC45A1c.632A>T (p.Asp211Val)
c.734A>T (p.Asp245Val)
c.641A>T (p.Asp214Val)
c.26A>T (p.Asp9Val)
c.539A>T (p.Asp180Val)
1g.8325960C>ACA338162620SLC45A1c.633C>A (p.Asp211Glu)
c.735C>A (p.Asp245Glu)
c.642C>A (p.Asp214Glu)
c.27C>A (p.Asp9Glu)
c.540C>A (p.Asp180Glu)
1g.8325960C>GCA338162621SLC45A1c.633C>G (p.Asp211Glu)
c.735C>G (p.Asp245Glu)
c.642C>G (p.Asp214Glu)
c.27C>G (p.Asp9Glu)
c.540C>G (p.Asp180Glu)
1g.8325960C>TCA415835866SLC45A1c.633C>T (p.Asp211=)
c.735C>T (p.Asp245=)
c.642C>T (p.Asp214=)
c.27C>T (p.Asp9=)
c.540C>T (p.Asp180=)

Number of alleles fetched