Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.52027919T>CCA2918296SGCBc.753+49A>G (p.=)
c.456+49A>G (p.=)
c.543+49A>G (p.=)
 dbSNP ExAC gnomAD
4g.52027921T>CCA551340266SGCBc.753+47A>G (p.=)
c.456+47A>G (p.=)
c.543+47A>G (p.=)
 gnomAD
4g.52027926A>GCA2918297SGCBc.753+42T>C (p.=)
c.456+42T>C (p.=)
c.543+42T>C (p.=)
 dbSNP ExAC gnomAD
4g.52027929A>GCA2918298SGCBc.753+39T>C (p.=)
c.456+39T>C (p.=)
c.543+39T>C (p.=)
 dbSNP ExAC gnomAD
4g.52027931C>ACA796086966SGCBc.753+37G>T (p.=)
c.456+37G>T (p.=)
c.543+37G>T (p.=)
4g.52027935A>GCA796086977SGCBc.753+33T>C (p.=)
c.456+33T>C (p.=)
c.543+33T>C (p.=)
4g.52027938A>CCA2918299SGCBc.753+30T>G (p.=)
c.456+30T>G (p.=)
c.543+30T>G (p.=)
 dbSNP ExAC gnomAD
4g.52027941C>ACA2918300SGCBc.753+27G>T (p.=)
c.456+27G>T (p.=)
c.543+27G>T (p.=)
 dbSNP ExAC gnomAD
4g.52027941C>TCA649369121SGCBc.753+27G>A (p.=)
c.456+27G>A (p.=)
c.543+27G>A (p.=)
 COSMIC
4g.52027949C>TCA2918301SGCBc.753+19G>A (p.=)
c.456+19G>A (p.=)
c.543+19G>A (p.=)
 dbSNP ExAC gnomAD
4g.52027951C>GCA96776221SGCBc.753+17G>C (p.=)
c.456+17G>C (p.=)
c.543+17G>C (p.=)
 dbSNP gnomAD
4g.52027958_52027960delCA2918302SGCBc.753+10_753+12del (p.=)
c.456+10_456+12del (p.=)
c.543+10_543+12del (p.=)
 ClinVar dbSNP ExAC gnomAD
4g.52027960A>CCA2918303SGCBc.753+8T>G (p.=)
c.456+8T>G (p.=)
c.543+8T>G (p.=)
 dbSNP ExAC gnomAD
4g.52027963C>TCA96776231SGCBc.753+5G>A (p.=)
c.456+5G>A (p.=)
c.543+5G>A (p.=)
 ClinVar dbSNP
4g.52027964T>CCA96776236SGCBc.753+4A>G (p.=)
c.456+4A>G (p.=)
c.543+4A>G (p.=)
 dbSNP
4g.52027966A>CCA356875726SGCBc.753+2T>G (p.=)
c.456+2T>G (p.=)
c.543+2T>G (p.=)
4g.52027966A>GCA356875727SGCBc.753+2T>C (p.=)
c.456+2T>C (p.=)
c.543+2T>C (p.=)
4g.52027966A>TCA356875728SGCBc.753+2T>A (p.=)
c.456+2T>A (p.=)
c.543+2T>A (p.=)
4g.52027967C>ACA356875729SGCBc.753+1G>T (p.=)
c.456+1G>T (p.=)
c.543+1G>T (p.=)
4g.52027967C>GCA356875730SGCBc.753+1G>C (p.=)
c.456+1G>C (p.=)
c.543+1G>C (p.=)
4g.52027967C>TCA356875731SGCBc.753+1G>A (p.=)
c.456+1G>A (p.=)
c.543+1G>A (p.=)
4g.52027968C>ACA439273600SGCBc.753G>T (p.Ala251=)
c.456G>T (p.Ala152=)
c.543G>T (p.Ala181=)
4g.52027968C>GCA439273601SGCBc.753G>C (p.Ala251=)
c.456G>C (p.Ala152=)
c.543G>C (p.Ala181=)
4g.52027968C>TCA439273602SGCBc.753G>A (p.Ala251=)
c.456G>A (p.Ala152=)
c.543G>A (p.Ala181=)
4g.52027969G>ACA2918304SGCBc.752C>T (p.Ala251Val)
c.455C>T (p.Ala152Val)
c.542C>T (p.Ala181Val)
 ClinVar dbSNP ExAC gnomAD
4g.52027969G>CCA356875732SGCBc.752C>G (p.Ala251Gly)
c.455C>G (p.Ala152Gly)
c.542C>G (p.Ala181Gly)
4g.52027969G>TCA356875733SGCBc.752C>A (p.Ala251Glu)
c.455C>A (p.Ala152Glu)
c.542C>A (p.Ala181Glu)
4g.52027970C>ACA356875736SGCBc.751G>T (p.Ala251Ser)
c.454G>T (p.Ala152Ser)
c.541G>T (p.Ala181Ser)
4g.52027970C>GCA356875735SGCBc.751G>C (p.Ala251Pro)
c.454G>C (p.Ala152Pro)
c.541G>C (p.Ala181Pro)
4g.52027970C>TCA356875734SGCBc.751G>A (p.Ala251Thr)
c.454G>A (p.Ala152Thr)
c.541G>A (p.Ala181Thr)
4g.52027971C>ACA2918305SGCBc.750G>T (p.Lys250Asn)
c.453G>T (p.Lys151Asn)
c.540G>T (p.Lys180Asn)
 dbSNP ExAC
4g.52027971C>GCA356875737SGCBc.750G>C (p.Lys250Asn)
c.453G>C (p.Lys151Asn)
c.540G>C (p.Lys180Asn)
4g.52027971C>TCA439273608SGCBc.750G>A (p.Lys250=)
c.453G>A (p.Lys151=)
c.540G>A (p.Lys180=)
4g.52027972T>ACA356875738SGCBc.749A>T (p.Lys250Met)
c.452A>T (p.Lys151Met)
c.539A>T (p.Lys180Met)
4g.52027972T>CCA356875739SGCBc.749A>G (p.Lys250Arg)
c.452A>G (p.Lys151Arg)
c.539A>G (p.Lys180Arg)
4g.52027972T>GCA356875740SGCBc.749A>C (p.Lys250Thr)
c.452A>C (p.Lys151Thr)
c.539A>C (p.Lys180Thr)
4g.52027973T>ACA356875741SGCBc.748A>T (p.Lys250Ter)
c.451A>T (p.Lys151Ter)
c.538A>T (p.Lys180Ter)
4g.52027973T>CCA356875742SGCBc.748A>G (p.Lys250Glu)
c.451A>G (p.Lys151Glu)
c.538A>G (p.Lys180Glu)
4g.52027973T>GCA356875743SGCBc.748A>C (p.Lys250Gln)
c.451A>C (p.Lys151Gln)
c.538A>C (p.Lys180Gln)
4g.52027974T>ACA356875744SGCBc.747A>T (p.Leu249Phe)
c.450A>T (p.Leu150Phe)
c.537A>T (p.Leu179Phe)
4g.52027974T>CCA439273609SGCBc.747A>G (p.Leu249=)
c.450A>G (p.Leu150=)
c.537A>G (p.Leu179=)
4g.52027974T>GCA356875745SGCBc.747A>C (p.Leu249Phe)
c.450A>C (p.Leu150Phe)
c.537A>C (p.Leu179Phe)
4g.52027975A>CCA356875746SGCBc.746T>G (p.Leu249Ter)
c.449T>G (p.Leu150Ter)
c.536T>G (p.Leu179Ter)
4g.52027975A>GCA356875747SGCBc.746T>C (p.Leu249Ser)
c.449T>C (p.Leu150Ser)
c.536T>C (p.Leu179Ser)
4g.52027975A>TCA356875748SGCBc.746T>A (p.Leu249Ter)
c.449T>A (p.Leu150Ter)
c.536T>A (p.Leu179Ter)
4g.52027976A>CCA356875749SGCBc.745T>G (p.Leu249Val)
c.448T>G (p.Leu150Val)
c.535T>G (p.Leu179Val)
4g.52027976A>GCA439273611SGCBc.745T>C (p.Leu249=)
c.448T>C (p.Leu150=)
c.535T>C (p.Leu179=)
4g.52027976A>TCA356875750SGCBc.745T>A (p.Leu249Ile)
c.448T>A (p.Leu150Ile)
c.535T>A (p.Leu179Ile)
4g.52027977C>ACA356875751SGCBc.744G>T (p.Glu248Asp)
c.447G>T (p.Glu149Asp)
c.534G>T (p.Glu178Asp)
4g.52027977C>GCA356875752SGCBc.744G>C (p.Glu248Asp)
c.447G>C (p.Glu149Asp)
c.534G>C (p.Glu178Asp)

Number of alleles fetched