Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.153816444G>ACA16603416GATAD2Bc.622C>T (p.Gln208Ter)
c.1045C>T (p.Gln349Ter)
c.997C>T (p.Gln333Ter)
c.299C>T
ClinVar dbSNP
1g.153816444G>CCA342527557GATAD2Bc.622C>G (p.Gln208Glu)
c.1045C>G (p.Gln349Glu)
c.997C>G (p.Gln333Glu)
c.299C>G
1g.153816444G=CA2480601979GATAD2Bc.622C= (p.Gln208=)
c.1045C= (p.Gln349=)
c.997C= (p.Gln333=)
c.299C=
1g.153816444G>TCA342527559GATAD2Bc.622C>A (p.Gln208Lys)
c.1045C>A (p.Gln349Lys)
c.997C>A (p.Gln333Lys)
c.299C>A
1g.153816445T>ACA420946145GATAD2Bc.621A>T (p.Ser207=)
c.1044A>T (p.Ser348=)
c.996A>T (p.Ser332=)
c.298A>T
1g.153816445T>CCA420946146GATAD2Bc.621A>G (p.Ser207=)
c.1044A>G (p.Ser348=)
c.996A>G (p.Ser332=)
c.298A>G
1g.153816445T>GCA420946147GATAD2Bc.621A>C (p.Ser207=)
c.1044A>C (p.Ser348=)
c.996A>C (p.Ser332=)
c.298A>C
1g.153816446G>ACA342527563GATAD2Bc.620C>T (p.Ser207Leu)
c.1043C>T (p.Ser348Leu)
c.995C>T (p.Ser332Leu)
c.297C>T
1g.153816446G>CCA342527565GATAD2Bc.620C>G (p.Ser207Ter)
c.1043C>G (p.Ser348Ter)
c.995C>G (p.Ser332Ter)
c.297C>G
ClinVar
1g.153816446G>TCA342527567GATAD2Bc.620C>A (p.Ser207Ter)
c.1043C>A (p.Ser348Ter)
c.995C>A (p.Ser332Ter)
c.297C>A
1g.153816447A>CCA342527575GATAD2Bc.619T>G (p.Ser207Ala)
c.1042T>G (p.Ser348Ala)
c.994T>G (p.Ser332Ala)
c.296T>G
1g.153816447A>GCA342527573GATAD2Bc.619T>C (p.Ser207Pro)
c.1042T>C (p.Ser348Pro)
c.994T>C (p.Ser332Pro)
c.296T>C
1g.153816447A>TCA342527570GATAD2Bc.619T>A (p.Ser207Thr)
c.1042T>A (p.Ser348Thr)
c.994T>A (p.Ser332Thr)
c.296T>A
1g.153816448G>ACA1120707GATAD2Bc.618C>T (p.Asn206=)
c.1041C>T (p.Asn347=)
c.993C>T (p.Asn331=)
c.295C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.153816448G>CCA342527576GATAD2Bc.618C>G (p.Asn206Lys)
c.1041C>G (p.Asn347Lys)
c.993C>G (p.Asn331Lys)
c.295C>G
1g.153816448G=CA2480601980GATAD2Bc.618C= (p.Asn206=)
c.1041C= (p.Asn347=)
c.993C= (p.Asn331=)
c.295C=
1g.153816448G>TCA342527579GATAD2Bc.618C>A (p.Asn206Lys)
c.1041C>A (p.Asn347Lys)
c.993C>A (p.Asn331Lys)
c.295C>A
1g.153816449T>ACA342527583GATAD2Bc.617A>T (p.Asn206Ile)
c.1040A>T (p.Asn347Ile)
c.992A>T (p.Asn331Ile)
c.294A>T
1g.153816449T>CCA30707840GATAD2Bc.617A>G (p.Asn206Ser)
c.1040A>G (p.Asn347Ser)
c.992A>G (p.Asn331Ser)
c.294A>G
dbSNP gnomAD v4
1g.153816449T>GCA342527587GATAD2Bc.617A>C (p.Asn206Thr)
c.1040A>C (p.Asn347Thr)
c.992A>C (p.Asn331Thr)
c.294A>C
gnomAD v4
1g.153816449T=CA2480601981GATAD2Bc.617A= (p.Asn206=)
c.1040A= (p.Asn347=)
c.992A= (p.Asn331=)
c.294A=
1g.153816450T>ACA342527591GATAD2Bc.616A>T (p.Asn206Tyr)
c.1039A>T (p.Asn347Tyr)
c.991A>T (p.Asn331Tyr)
c.293A>T
1g.153816450T>CCA342527592GATAD2Bc.616A>G (p.Asn206Asp)
c.1039A>G (p.Asn347Asp)
c.991A>G (p.Asn331Asp)
c.293A>G
1g.153816450T>GCA342527594GATAD2Bc.616A>C (p.Asn206His)
c.1039A>C (p.Asn347His)
c.991A>C (p.Asn331His)
c.293A>C
1g.153816451G>ACA1120708GATAD2Bc.615C>T (p.Ala205=)
c.1038C>T (p.Ala346=)
c.990C>T (p.Ala330=)
c.292C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153816451G>CCA420946148GATAD2Bc.615C>G (p.Ala205=)
c.1038C>G (p.Ala346=)
c.990C>G (p.Ala330=)
c.292C>G
gnomAD v4
1g.153816451G=CA1141426560GATAD2Bc.615C= (p.Ala205=)
c.1038C= (p.Ala346=)
c.990C= (p.Ala330=)
c.292C=
1g.153816451G>TCA420946149GATAD2Bc.615C>A (p.Ala205=)
c.1038C>A (p.Ala346=)
c.990C>A (p.Ala330=)
c.292C>A
1g.153816452G>ACA342527599GATAD2Bc.614C>T (p.Ala205Val)
c.1037C>T (p.Ala346Val)
c.989C>T (p.Ala330Val)
c.291C>T
1g.153816452G>CCA342527600GATAD2Bc.614C>G (p.Ala205Gly)
c.1037C>G (p.Ala346Gly)
c.989C>G (p.Ala330Gly)
c.291C>G
1g.153816452G>TCA342527603GATAD2Bc.614C>A (p.Ala205Asp)
c.1037C>A (p.Ala346Asp)
c.989C>A (p.Ala330Asp)
c.291C>A
1g.153816453C>ACA342527608GATAD2Bc.613G>T (p.Ala205Ser)
c.1036G>T (p.Ala346Ser)
c.988G>T (p.Ala330Ser)
c.290G>T
1g.153816453C>GCA342527611GATAD2Bc.613G>C (p.Ala205Pro)
c.1036G>C (p.Ala346Pro)
c.988G>C (p.Ala330Pro)
c.290G>C
1g.153816453C>TCA342527606GATAD2Bc.613G>A (p.Ala205Thr)
c.1036G>A (p.Ala346Thr)
c.988G>A (p.Ala330Thr)
c.290G>A
1g.153816454A=CA2480601982GATAD2Bc.612T= (p.Ala204=)
c.1035T= (p.Ala345=)
c.987T= (p.Ala329=)
c.289T=
1g.153816454A>CCA420946150GATAD2Bc.612T>G (p.Ala204=)
c.1035T>G (p.Ala345=)
c.987T>G (p.Ala329=)
c.289T>G
1g.153816454A>GCA30707855GATAD2Bc.612T>C (p.Ala204=)
c.1035T>C (p.Ala345=)
c.987T>C (p.Ala329=)
c.289T>C
ClinVar dbSNP
1g.153816454A>TCA420946151GATAD2Bc.612T>A (p.Ala204=)
c.1035T>A (p.Ala345=)
c.987T>A (p.Ala329=)
c.289T>A
dbSNP
1g.153816455G>ACA342527614GATAD2Bc.611C>T (p.Ala204Val)
c.1034C>T (p.Ala345Val)
c.986C>T (p.Ala329Val)
c.288C>T
1g.153816455G>CCA342527616GATAD2Bc.611C>G (p.Ala204Gly)
c.1034C>G (p.Ala345Gly)
c.986C>G (p.Ala329Gly)
c.288C>G
1g.153816455G>TCA342527619GATAD2Bc.611C>A (p.Ala204Asp)
c.1034C>A (p.Ala345Asp)
c.986C>A (p.Ala329Asp)
c.288C>A
1g.153816456C>ACA342527624GATAD2Bc.610G>T (p.Ala204Ser)
c.1033G>T (p.Ala345Ser)
c.985G>T (p.Ala329Ser)
c.287G>T
1g.153816456C>GCA342527627GATAD2Bc.610G>C (p.Ala204Pro)
c.1033G>C (p.Ala345Pro)
c.985G>C (p.Ala329Pro)
c.287G>C
1g.153816456C>TCA342527630GATAD2Bc.610G>A (p.Ala204Thr)
c.1033G>A (p.Ala345Thr)
c.985G>A (p.Ala329Thr)
c.287G>A
gnomAD v4
1g.153816457A>CCA342527635GATAD2Bc.609T>G (p.Asp203Glu)
c.1032T>G (p.Asp344Glu)
c.984T>G (p.Asp328Glu)
c.286T>G
1g.153816457A>GCA420946152GATAD2Bc.609T>C (p.Asp203=)
c.1032T>C (p.Asp344=)
c.984T>C (p.Asp328=)
c.286T>C
1g.153816457A>TCA342527637GATAD2Bc.609T>A (p.Asp203Glu)
c.1032T>A (p.Asp344Glu)
c.984T>A (p.Asp328Glu)
c.286T>A
1g.153816458T>ACA342527641GATAD2Bc.608A>T (p.Asp203Val)
c.1031A>T (p.Asp344Val)
c.983A>T (p.Asp328Val)
c.285A>T
1g.153816458T>CCA342527644GATAD2Bc.608A>G (p.Asp203Gly)
c.1031A>G (p.Asp344Gly)
c.983A>G (p.Asp328Gly)
c.285A>G
1g.153816458T>GCA342527649GATAD2Bc.608A>C (p.Asp203Ala)
c.1031A>C (p.Asp344Ala)
c.983A>C (p.Asp328Ala)
c.285A>C

Number of alleles fetched