Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.5253282G>ACA124552HBG2c.439C>T (p.His147Tyr)
c.274C>T (p.His92Tyr)
c.315+1010C>T (n.315+1010C>T)
c.378+61C>T (n.378+61C>T)
c.409C>T (p.His137Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.5253282G>CCA379263464HBG2c.439C>G (p.His147Asp)
c.274C>G (p.His92Asp)
c.315+1010C>G (n.315+1010C>G)
c.378+61C>G (n.378+61C>G)
c.409C>G (p.His137Asp)
11g.5253282G=CA1949575326HBG2c.439C= (p.His147=)
c.274C= (p.His92=)
c.315+1010C= (n.315+1010C=)
c.378+61C= (n.378+61C=)
c.409C= (p.His137=)
11g.5253282G>TCA379263463HBG2c.439C>A (p.His147Asn)
c.274C>A (p.His92Asn)
c.315+1010C>A (n.315+1010C>A)
c.378+61C>A (n.378+61C>A)
c.409C>A (p.His137Asn)
 dbSNP
11g.5253283G>ACA472633088HBG2c.438C>T (p.Tyr146=)
c.273C>T (p.Tyr91=)
c.315+1009C>T (n.315+1009C>T)
c.378+60C>T (n.378+60C>T)
c.408C>T (p.Tyr136=)
11g.5253283G>CCA379263465HBG2c.438C>G (p.Tyr146Ter)
c.273C>G (p.Tyr91Ter)
c.315+1009C>G (n.315+1009C>G)
c.378+60C>G (n.378+60C>G)
c.408C>G (p.Tyr136Ter)
11g.5253283G>TCA379263466HBG2c.438C>A (p.Tyr146Ter)
c.273C>A (p.Tyr91Ter)
c.315+1009C>A (n.315+1009C>A)
c.378+60C>A (n.378+60C>A)
c.408C>A (p.Tyr136Ter)
11g.5253284T>ACA379263467HBG2c.437A>T (p.Tyr146Phe)
c.272A>T (p.Tyr91Phe)
c.315+1008A>T (n.315+1008A>T)
c.378+59A>T (n.378+59A>T)
c.407A>T (p.Tyr136Phe)
11g.5253284T>CCA379263468HBG2c.437A>G (p.Tyr146Cys)
c.272A>G (p.Tyr91Cys)
c.315+1008A>G (n.315+1008A>G)
c.378+59A>G (n.378+59A>G)
c.407A>G (p.Tyr136Cys)
11g.5253284T>GCA379263469HBG2c.437A>C (p.Tyr146Ser)
c.272A>C (p.Tyr91Ser)
c.315+1008A>C (n.315+1008A>C)
c.378+59A>C (n.378+59A>C)
c.407A>C (p.Tyr136Ser)
11g.5253285A>CCA379263470HBG2c.436T>G (p.Tyr146Asp)
c.271T>G (p.Tyr91Asp)
c.315+1007T>G (n.315+1007T>G)
c.378+58T>G (n.378+58T>G)
c.406T>G (p.Tyr136Asp)
11g.5253285A>GCA379263471HBG2c.436T>C (p.Tyr146His)
c.271T>C (p.Tyr91His)
c.315+1007T>C (n.315+1007T>C)
c.378+58T>C (n.378+58T>C)
c.406T>C (p.Tyr136His)
11g.5253285A>TCA379263472HBG2c.436T>A (p.Tyr146Asn)
c.271T>A (p.Tyr91Asn)
c.315+1007T>A (n.315+1007T>A)
c.378+58T>A (n.378+58T>A)
c.406T>A (p.Tyr136Asn)
11g.5253286T>ACA379263473HBG2c.435A>T (p.Arg145Ser)
c.270A>T (p.Arg90Ser)
c.315+1006A>T (n.315+1006A>T)
c.378+57A>T (n.378+57A>T)
c.405A>T (p.Arg135Ser)
11g.5253286T>CCA472633089HBG2c.435A>G (p.Arg145=)
c.270A>G (p.Arg90=)
c.315+1006A>G (n.315+1006A>G)
c.378+57A>G (n.378+57A>G)
c.405A>G (p.Arg135=)
11g.5253286T>GCA379263474HBG2c.435A>C (p.Arg145Ser)
c.270A>C (p.Arg90Ser)
c.315+1006A>C (n.315+1006A>C)
c.378+57A>C (n.378+57A>C)
c.405A>C (p.Arg135Ser)
11g.5253287C>ACA379263475HBG2c.434G>T (p.Arg145Ile)
c.269G>T (p.Arg90Ile)
c.315+1005G>T (n.315+1005G>T)
c.378+56G>T (n.378+56G>T)
c.404G>T (p.Arg135Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.5253287C=CA1949575331HBG2c.434G= (p.Arg145=)
c.269G= (p.Arg90=)
c.315+1005G= (n.315+1005G=)
c.378+56G= (n.378+56G=)
c.404G= (p.Arg135=)
11g.5253287C>GCA379263476HBG2c.434G>C (p.Arg145Thr)
c.269G>C (p.Arg90Thr)
c.315+1005G>C (n.315+1005G>C)
c.378+56G>C (n.378+56G>C)
c.404G>C (p.Arg135Thr)
11g.5253287C>TCA379263477HBG2c.434G>A (p.Arg145Lys)
c.269G>A (p.Arg90Lys)
c.315+1005G>A (n.315+1005G>A)
c.378+56G>A (n.378+56G>A)
c.404G>A (p.Arg135Lys)
 dbSNP gnomAD v4
11g.5253288delCA2612151451HBG2c.433del (p.Arg145AspfsTer24)
c.268del (p.Arg90AspfsTer24)
c.315+1004del (n.315+1004del)
c.378+55del (n.378+55del)
c.403del (p.Arg135AspfsTer24)
 gnomAD v4
11g.5253288T>ACA379263478HBG2c.433A>T (p.Arg145Ter)
c.268A>T (p.Arg90Ter)
c.315+1004A>T (n.315+1004A>T)
c.378+55A>T (n.378+55A>T)
c.403A>T (p.Arg135Ter)
11g.5253288T>CCA379263479HBG2c.433A>G (p.Arg145Gly)
c.268A>G (p.Arg90Gly)
c.315+1004A>G (n.315+1004A>G)
c.378+55A>G (n.378+55A>G)
c.403A>G (p.Arg135Gly)
11g.5253288T>GCA472633090HBG2c.433A>C (p.Arg145=)
c.268A>C (p.Arg90=)
c.315+1004A>C (n.315+1004A>C)
c.378+55A>C (n.378+55A>C)
c.403A>C (p.Arg135=)
11g.5253289G>ACA472633091HBG2c.432C>T (p.Ser144=)
c.267C>T (p.Ser89=)
c.315+1003C>T (n.315+1003C>T)
c.378+54C>T (n.378+54C>T)
c.402C>T (p.Ser134=)
 dbSNP gnomAD v4
11g.5253289G>CCA472633092HBG2c.432C>G (p.Ser144=)
c.267C>G (p.Ser89=)
c.315+1003C>G (n.315+1003C>G)
c.378+54C>G (n.378+54C>G)
c.402C>G (p.Ser134=)
11g.5253289G=CA1949575335HBG2c.432C= (p.Ser144=)
c.267C= (p.Ser89=)
c.315+1003C= (n.315+1003C=)
c.378+54C= (n.378+54C=)
c.402C= (p.Ser134=)
11g.5253289G>TCA472633093HBG2c.432C>A (p.Ser144=)
c.267C>A (p.Ser89=)
c.315+1003C>A (n.315+1003C>A)
c.378+54C>A (n.378+54C>A)
c.402C>A (p.Ser134=)
11g.5253290G>ACA379263480HBG2c.431C>T (p.Ser144Phe)
c.266C>T (p.Ser89Phe)
c.315+1002C>T (n.315+1002C>T)
c.378+53C>T (n.378+53C>T)
c.401C>T (p.Ser134Phe)
 dbSNP
11g.5253290G>CCA379263482HBG2c.431C>G (p.Ser144Cys)
c.266C>G (p.Ser89Cys)
c.315+1002C>G (n.315+1002C>G)
c.378+53C>G (n.378+53C>G)
c.401C>G (p.Ser134Cys)
 dbSNP gnomAD v2 gnomAD v4
11g.5253290G=CA1949575338HBG2c.431C= (p.Ser144=)
c.266C= (p.Ser89=)
c.315+1002C= (n.315+1002C=)
c.378+53C= (n.378+53C=)
c.401C= (p.Ser134=)
11g.5253290G>TCA379263481HBG2c.431C>A (p.Ser144Tyr)
c.266C>A (p.Ser89Tyr)
c.315+1002C>A (n.315+1002C>A)
c.378+53C>A (n.378+53C>A)
c.401C>A (p.Ser134Tyr)
11g.5253291A>CCA379263483HBG2c.430T>G (p.Ser144Ala)
c.265T>G (p.Ser89Ala)
c.315+1001T>G (n.315+1001T>G)
c.378+52T>G (n.378+52T>G)
c.400T>G (p.Ser134Ala)
11g.5253291A>GCA379263484HBG2c.430T>C (p.Ser144Pro)
c.265T>C (p.Ser89Pro)
c.315+1001T>C (n.315+1001T>C)
c.378+52T>C (n.378+52T>C)
c.400T>C (p.Ser134Pro)
11g.5253291A>TCA379263485HBG2c.430T>A (p.Ser144Thr)
c.265T>A (p.Ser89Thr)
c.315+1001T>A (n.315+1001T>A)
c.378+52T>A (n.378+52T>A)
c.400T>A (p.Ser134Thr)
11g.5253292G>ACA5840199HBG2c.429C>T (p.Ser143=)
c.264C>T (p.Ser88=)
c.315+1000C>T (n.315+1000C>T)
c.378+51C>T (n.378+51C>T)
c.399C>T (p.Ser133=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5253292G>CCA472633094HBG2c.429C>G (p.Ser143=)
c.264C>G (p.Ser88=)
c.315+1000C>G (n.315+1000C>G)
c.378+51C>G (n.378+51C>G)
c.399C>G (p.Ser133=)
11g.5253292G=CA1949575349HBG2c.429C= (p.Ser143=)
c.264C= (p.Ser88=)
c.315+1000C= (n.315+1000C=)
c.378+51C= (n.378+51C=)
c.399C= (p.Ser133=)
11g.5253292G>TCA472633095HBG2c.429C>A (p.Ser143=)
c.264C>A (p.Ser88=)
c.315+1000C>A (n.315+1000C>A)
c.378+51C>A (n.378+51C>A)
c.399C>A (p.Ser133=)
11g.5253293G>ACA379263486HBG2c.428C>T (p.Ser143Phe)
c.263C>T (p.Ser88Phe)
c.315+999C>T (n.315+999C>T)
c.378+50C>T (n.378+50C>T)
c.398C>T (p.Ser133Phe)
11g.5253293G>CCA379263487HBG2c.428C>G (p.Ser143Cys)
c.263C>G (p.Ser88Cys)
c.315+999C>G (n.315+999C>G)
c.378+50C>G (n.378+50C>G)
c.398C>G (p.Ser133Cys)
11g.5253293G>TCA379263488HBG2c.428C>A (p.Ser143Tyr)
c.263C>A (p.Ser88Tyr)
c.315+999C>A (n.315+999C>A)
c.378+50C>A (n.378+50C>A)
c.398C>A (p.Ser133Tyr)
11g.5253294A>CCA379263489HBG2c.427T>G (p.Ser143Ala)
c.262T>G (p.Ser88Ala)
c.315+998T>G (n.315+998T>G)
c.378+49T>G (n.378+49T>G)
c.397T>G (p.Ser133Ala)
11g.5253294A>GCA379263490HBG2c.427T>C (p.Ser143Pro)
c.262T>C (p.Ser88Pro)
c.315+998T>C (n.315+998T>C)
c.378+49T>C (n.378+49T>C)
c.397T>C (p.Ser133Pro)
11g.5253294A>TCA379263491HBG2c.427T>A (p.Ser143Thr)
c.262T>A (p.Ser88Thr)
c.315+998T>A (n.315+998T>A)
c.378+49T>A (n.378+49T>A)
c.397T>A (p.Ser133Thr)
11g.5253295C>ACA472633096HBG2c.426G>T (p.Leu142=)
c.261G>T (p.Leu87=)
c.315+997G>T (n.315+997G>T)
c.378+48G>T (n.378+48G>T)
c.396G>T (p.Leu132=)
11g.5253295C>GCA472633097HBG2c.426G>C (p.Leu142=)
c.261G>C (p.Leu87=)
c.315+997G>C (n.315+997G>C)
c.378+48G>C (n.378+48G>C)
c.396G>C (p.Leu132=)
11g.5253295C>TCA472633098HBG2c.426G>A (p.Leu142=)
c.261G>A (p.Leu87=)
c.315+997G>A (n.315+997G>A)
c.378+48G>A (n.378+48G>A)
c.396G>A (p.Leu132=)
11g.5253296A>CCA379263493HBG2c.425T>G (p.Leu142Arg)
c.260T>G (p.Leu87Arg)
c.315+996T>G (n.315+996T>G)
c.378+47T>G (n.378+47T>G)
c.395T>G (p.Leu132Arg)
11g.5253296A>GCA379263494HBG2c.425T>C (p.Leu142Pro)
c.260T>C (p.Leu87Pro)
c.315+996T>C (n.315+996T>C)
c.378+47T>C (n.378+47T>C)
c.395T>C (p.Leu132Pro)

Number of alleles fetched