Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.11748886_11748887delCA4630647GATA4c.617-33_617-32del (n.617-33_617-32del)
c.617-30_617-29del (n.617-30_617-29del)
c.-5-30_-5-29del (n.-5-30_-5-29del)
c.614-33_614-32del (n.614-33_614-32del)
c.-2-33_-2-32del (n.-2-33_-2-32del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11748887T>ACA2686136896GATA4c.617-32T>A (n.617-32T>A)
c.617-29T>A (n.617-29T>A)
c.-5-29T>A (n.-5-29T>A)
c.614-32T>A (n.614-32T>A)
c.-2-32T>A (n.-2-32T>A)
 gnomAD v4
8g.11748889T>GCA172113036GATA4c.617-30T>G (n.617-30T>G)
c.617-27T>G (n.617-27T>G)
c.-5-27T>G (n.-5-27T>G)
c.614-30T>G (n.614-30T>G)
c.-2-30T>G (n.-2-30T>G)
 dbSNP gnomAD v4
8g.11748889T=CA1764079557GATA4c.617-30T= (n.617-30T=)
c.617-27T= (n.617-27T=)
c.-5-27T= (n.-5-27T=)
c.614-30T= (n.614-30T=)
c.-2-30T= (n.-2-30T=)
8g.11748890T>GCA2686136897GATA4c.617-29T>G (n.617-29T>G)
c.617-26T>G (n.617-26T>G)
c.-5-26T>G (n.-5-26T>G)
c.614-29T>G (n.614-29T>G)
c.-2-29T>G (n.-2-29T>G)
 gnomAD v4
8g.11748891T>CCA2686136898GATA4c.617-28T>C (n.617-28T>C)
c.617-25T>C (n.617-25T>C)
c.-5-25T>C (n.-5-25T>C)
c.614-28T>C (n.614-28T>C)
c.-2-28T>C (n.-2-28T>C)
 gnomAD v4
8g.11748891T>GCA2686136899GATA4c.617-28T>G (n.617-28T>G)
c.617-25T>G (n.617-25T>G)
c.-5-25T>G (n.-5-25T>G)
c.614-28T>G (n.614-28T>G)
c.-2-28T>G (n.-2-28T>G)
 gnomAD v4
8g.11748892T>CCA1110739180GATA4c.617-27T>C (n.617-27T>C)
c.617-24T>C (n.617-24T>C)
c.-5-24T>C (n.-5-24T>C)
c.614-27T>C (n.614-27T>C)
c.-2-27T>C (n.-2-27T>C)
 dbSNP gnomAD v3 gnomAD v4
8g.11748892T=CA1764079559GATA4c.617-27T= (n.617-27T=)
c.617-24T= (n.617-24T=)
c.-5-24T= (n.-5-24T=)
c.614-27T= (n.614-27T=)
c.-2-27T= (n.-2-27T=)
8g.11748893C>ACA4630649GATA4c.617-26C>A (n.617-26C>A)
c.617-23C>A (n.617-23C>A)
c.-5-23C>A (n.-5-23C>A)
c.614-26C>A (n.614-26C>A)
c.-2-26C>A (n.-2-26C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11748893C=CA1764079560GATA4c.617-26C= (n.617-26C=)
c.617-23C= (n.617-23C=)
c.-5-23C= (n.-5-23C=)
c.614-26C= (n.614-26C=)
c.-2-26C= (n.-2-26C=)
8g.11748893C>TCA1764079562GATA4c.617-26C>T (n.617-26C>T)
c.617-23C>T (n.617-23C>T)
c.-5-23C>T (n.-5-23C>T)
c.614-26C>T (n.614-26C>T)
c.-2-26C>T (n.-2-26C>T)
 dbSNP
8g.11748894T>GCA1764079565GATA4c.617-25T>G (n.617-25T>G)
c.617-22T>G (n.617-22T>G)
c.-5-22T>G (n.-5-22T>G)
c.614-25T>G (n.614-25T>G)
c.-2-25T>G (n.-2-25T>G)
 dbSNP
8g.11748894T=CA1764079564GATA4c.617-25T= (n.617-25T=)
c.617-22T= (n.617-22T=)
c.-5-22T= (n.-5-22T=)
c.614-25T= (n.614-25T=)
c.-2-25T= (n.-2-25T=)
8g.11748895T>CCA1764079568GATA4c.617-24T>C (n.617-24T>C)
c.617-21T>C (n.617-21T>C)
c.-5-21T>C (n.-5-21T>C)
c.614-24T>C (n.614-24T>C)
c.-2-24T>C (n.-2-24T>C)
 dbSNP
8g.11748895T=CA1764079567GATA4c.617-24T= (n.617-24T=)
c.617-21T= (n.617-21T=)
c.-5-21T= (n.-5-21T=)
c.614-24T= (n.614-24T=)
c.-2-24T= (n.-2-24T=)
8g.11748896G>ACA4630650GATA4c.617-23G>A (n.617-23G>A)
c.617-20G>A (n.617-20G>A)
c.-5-20G>A (n.-5-20G>A)
c.614-23G>A (n.614-23G>A)
c.-2-23G>A (n.-2-23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.11748896G>CCA1764079573GATA4c.617-23G>C (n.617-23G>C)
c.617-20G>C (n.617-20G>C)
c.-5-20G>C (n.-5-20G>C)
c.614-23G>C (n.614-23G>C)
c.-2-23G>C (n.-2-23G>C)
 dbSNP gnomAD v4
8g.11748896G=CA1764079571GATA4c.617-23G= (n.617-23G=)
c.617-20G= (n.617-20G=)
c.-5-20G= (n.-5-20G=)
c.614-23G= (n.614-23G=)
c.-2-23G= (n.-2-23G=)
8g.11748896G>TCA2686136901GATA4c.617-23G>T (n.617-23G>T)
c.617-20G>T (n.617-20G>T)
c.-5-20G>T (n.-5-20G>T)
c.614-23G>T (n.614-23G>T)
c.-2-23G>T (n.-2-23G>T)
 gnomAD v4
8g.11748900G>ACA2686136904GATA4c.617-19G>A (n.617-19G>A)
c.617-16G>A (n.617-16G>A)
c.-5-16G>A (n.-5-16G>A)
c.614-19G>A (n.614-19G>A)
c.-2-19G>A (n.-2-19G>A)
 gnomAD v4
8g.11748900G>TCA2686136903GATA4c.617-19G>T (n.617-19G>T)
c.617-16G>T (n.617-16G>T)
c.-5-16G>T (n.-5-16G>T)
c.614-19G>T (n.614-19G>T)
c.-2-19G>T (n.-2-19G>T)
 gnomAD v4
8g.11748901T>CCA172113050GATA4c.617-18T>C (n.617-18T>C)
c.617-15T>C (n.617-15T>C)
c.-5-15T>C (n.-5-15T>C)
c.614-18T>C (n.614-18T>C)
c.-2-18T>C (n.-2-18T>C)
 dbSNP gnomAD v4
8g.11748901T=CA1764079574GATA4c.617-18T= (n.617-18T=)
c.617-15T= (n.617-15T=)
c.-5-15T= (n.-5-15T=)
c.614-18T= (n.614-18T=)
c.-2-18T= (n.-2-18T=)
8g.11748902_11748904delinsTCCCA1764079575GATA4c.617-17_617-15delinsTCC (n.617-17_617-15delinsTCC)
c.617-14_617-12delinsTCC (n.617-14_617-12delinsTCC)
c.-5-14_-5-12delinsTCC (n.-5-14_-5-12delinsTCC)
c.614-17_614-15delinsTCC (n.614-17_614-15delinsTCC)
c.-2-17_-2-15delinsTCC (n.-2-17_-2-15delinsTCC)
8g.11748903C=CA1764079577GATA4c.617-16C= (n.617-16C=)
c.617-13C= (n.617-13C=)
c.-5-13C= (n.-5-13C=)
c.614-16C= (n.614-16C=)
c.-2-16C= (n.-2-16C=)
8g.11748903C>GCA580031724GATA4c.617-16C>G (n.617-16C>G)
c.617-13C>G (n.617-13C>G)
c.-5-13C>G (n.-5-13C>G)
c.614-16C>G (n.614-16C>G)
c.-2-16C>G (n.-2-16C>G)
 dbSNP gnomAD v2 gnomAD v4
8g.11748903C>TCA4630651GATA4c.617-16C>T (n.617-16C>T)
c.617-13C>T (n.617-13C>T)
c.-5-13C>T (n.-5-13C>T)
c.614-16C>T (n.614-16C>T)
c.-2-16C>T (n.-2-16C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.11748907_11748908delCA1764079578GATA4c.617-12_617-11del (n.617-12_617-11del)
c.617-9_617-8del (n.617-9_617-8del)
c.-5-9_-5-8del (n.-5-9_-5-8del)
c.614-12_614-11del (n.614-12_614-11del)
c.-2-12_-2-11del (n.-2-12_-2-11del)
 dbSNP
8g.11748904C>ACA4630652GATA4c.617-15C>A (n.617-15C>A)
c.617-12C>A (n.617-12C>A)
c.-5-12C>A (n.-5-12C>A)
c.614-15C>A (n.614-15C>A)
c.-2-15C>A (n.-2-15C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11748904C=CA1764079582GATA4c.617-15C= (n.617-15C=)
c.617-12C= (n.617-12C=)
c.-5-12C= (n.-5-12C=)
c.614-15C= (n.614-15C=)
c.-2-15C= (n.-2-15C=)
8g.11748904C>TCA4630653GATA4c.617-15C>T (n.617-15C>T)
c.617-12C>T (n.617-12C>T)
c.-5-12C>T (n.-5-12C>T)
c.614-15C>T (n.614-15C>T)
c.-2-15C>T (n.-2-15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11748905C>ACA2686136912GATA4c.617-14C>A (n.617-14C>A)
c.617-11C>A (n.617-11C>A)
c.-5-11C>A (n.-5-11C>A)
c.614-14C>A (n.614-14C>A)
c.-2-14C>A (n.-2-14C>A)
 gnomAD v4
8g.11748905C>TCA2686136913GATA4c.617-14C>T (n.617-14C>T)
c.617-11C>T (n.617-11C>T)
c.-5-11C>T (n.-5-11C>T)
c.614-14C>T (n.614-14C>T)
c.-2-14C>T (n.-2-14C>T)
 gnomAD v4
8g.11748906C>ACA2686136915GATA4c.617-13C>A (n.617-13C>A)
c.617-10C>A (n.617-10C>A)
c.-5-10C>A (n.-5-10C>A)
c.614-13C>A (n.614-13C>A)
c.-2-13C>A (n.-2-13C>A)
 gnomAD v4
8g.11748906C>GCA2686136916GATA4c.617-13C>G (n.617-13C>G)
c.617-10C>G (n.617-10C>G)
c.-5-10C>G (n.-5-10C>G)
c.614-13C>G (n.614-13C>G)
c.-2-13C>G (n.-2-13C>G)
 gnomAD v4
8g.11748907C>ACA1764079588GATA4c.617-12C>A (n.617-12C>A)
c.617-9C>A (n.617-9C>A)
c.-5-9C>A (n.-5-9C>A)
c.614-12C>A (n.614-12C>A)
c.-2-12C>A (n.-2-12C>A)
 dbSNP gnomAD v4
8g.11748907C=CA1764079587GATA4c.617-12C= (n.617-12C=)
c.617-9C= (n.617-9C=)
c.-5-9C= (n.-5-9C=)
c.614-12C= (n.614-12C=)
c.-2-12C= (n.-2-12C=)
8g.11748907C>TCA2686136917GATA4c.617-12C>T (n.617-12C>T)
c.617-9C>T (n.617-9C>T)
c.-5-9C>T (n.-5-9C>T)
c.614-12C>T (n.614-12C>T)
c.-2-12C>T (n.-2-12C>T)
 gnomAD v4
8g.11748908C>ACA2686136919GATA4c.617-11C>A (n.617-11C>A)
c.617-8C>A (n.617-8C>A)
c.-5-8C>A (n.-5-8C>A)
c.614-11C>A (n.614-11C>A)
c.-2-11C>A (n.-2-11C>A)
 gnomAD v4
8g.11748908C>GCA2554352115GATA4c.617-11C>G (n.617-11C>G)
c.617-8C>G (n.617-8C>G)
c.-5-8C>G (n.-5-8C>G)
c.614-11C>G (n.614-11C>G)
c.-2-11C>G (n.-2-11C>G)
 gnomAD v4
8g.11748909A>TCA2686136920GATA4c.617-10A>T (n.617-10A>T)
c.617-7A>T (n.617-7A>T)
c.-5-7A>T (n.-5-7A>T)
c.614-10A>T (n.614-10A>T)
c.-2-10A>T (n.-2-10A>T)
 gnomAD v4
8g.11748910A>CCA2686136921GATA4c.617-9A>C (n.617-9A>C)
c.617-6A>C (n.617-6A>C)
c.-5-6A>C (n.-5-6A>C)
c.614-9A>C (n.614-9A>C)
c.-2-9A>C (n.-2-9A>C)
 gnomAD v4
8g.11748911C>ACA4630655GATA4c.617-8C>A (n.617-8C>A)
c.617-5C>A (n.617-5C>A)
c.-5-5C>A (n.-5-5C>A)
c.614-8C>A (n.614-8C>A)
c.-2-8C>A (n.-2-8C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11748911C=CA1764079591GATA4c.617-8C= (n.617-8C=)
c.617-5C= (n.617-5C=)
c.-5-5C= (n.-5-5C=)
c.614-8C= (n.614-8C=)
c.-2-8C= (n.-2-8C=)
8g.11748911C>TCA4630654GATA4c.617-8C>T (n.617-8C>T)
c.617-5C>T (n.617-5C>T)
c.-5-5C>T (n.-5-5C>T)
c.614-8C>T (n.614-8C>T)
c.-2-8C>T (n.-2-8C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11748914A=CA1764079592GATA4c.617-5A= (n.617-5A=)
c.617-2A= (n.617-2A=)
c.-5-2A= (n.-5-2A=)
c.614-5A= (n.614-5A=)
c.-2-5A= (n.-2-5A=)
8g.11748914A>CCA370312502GATA4c.617-5A>C (n.617-5A>C)
c.617-2A>C (n.617-2A>C)
c.-5-2A>C (n.-5-2A>C)
c.614-5A>C (n.614-5A>C)
c.-2-5A>C (n.-2-5A>C)
8g.11748914A>GCA370312503GATA4c.617-5A>G (n.617-5A>G)
c.617-2A>G (n.617-2A>G)
c.-5-2A>G (n.-5-2A>G)
c.614-5A>G (n.614-5A>G)
c.-2-5A>G (n.-2-5A>G)
 dbSNP gnomAD v3 gnomAD v4
8g.11748914A>TCA370312504GATA4c.617-5A>T (n.617-5A>T)
c.617-2A>T (n.617-2A>T)
c.-5-2A>T (n.-5-2A>T)
c.614-5A>T (n.614-5A>T)
c.-2-5A>T (n.-2-5A>T)
8g.11748915G>ACA370312505GATA4c.617-4G>A (n.617-4G>A)
c.617-1G>A (n.617-1G>A)
c.-5-1G>A (n.-5-1G>A)
c.614-4G>A (n.614-4G>A)
c.-2-4G>A (n.-2-4G>A)
 dbSNP gnomAD v4
8g.11748915G>CCA370312506GATA4c.617-4G>C (n.617-4G>C)
c.617-1G>C (n.617-1G>C)
c.-5-1G>C (n.-5-1G>C)
c.614-4G>C (n.614-4G>C)
c.-2-4G>C (n.-2-4G>C)
8g.11748915G=CA1764079594GATA4c.617-4G= (n.617-4G=)
c.617-1G= (n.617-1G=)
c.-5-1G= (n.-5-1G=)
c.614-4G= (n.614-4G=)
c.-2-4G= (n.-2-4G=)
8g.11748915G>TCA370312507GATA4c.617-4G>T (n.617-4G>T)
c.617-1G>T (n.617-1G>T)
c.-5-1G>T (n.-5-1G>T)
c.614-4G>T (n.614-4G>T)
c.-2-4G>T (n.-2-4G>T)
8g.11748916T>ACA370312508GATA4c.617-3T>A (n.617-3T>A)
c.617T>A (p.Val206Glu)
c.-5T>A (n.-5T>A)
c.614-3T>A (n.614-3T>A)
c.-2-3T>A (n.-2-3T>A)
8g.11748916T>CCA370312510GATA4c.617-3T>C (n.617-3T>C)
c.617T>C (p.Val206Ala)
c.-5T>C (n.-5T>C)
c.614-3T>C (n.614-3T>C)
c.-2-3T>C (n.-2-3T>C)
 gnomAD v4
8g.11748916T>GCA370312509GATA4c.617-3T>G (n.617-3T>G)
c.617T>G (p.Val206Gly)
c.-5T>G (n.-5T>G)
c.614-3T>G (n.614-3T>G)
c.-2-3T>G (n.-2-3T>G)
 dbSNP gnomAD v2 gnomAD v4
8g.11748916T=CA1764079596GATA4c.617-3T= (n.617-3T=)
c.617T= (p.Val206=)
c.-5T= (n.-5T=)
c.614-3T= (n.614-3T=)
c.-2-3T= (n.-2-3T=)
8g.11748917A=CA1764079599GATA4c.617-2A= (n.617-2A=)
c.618A= (p.Val206=)
c.-4A= (n.-4A=)
c.614-2A= (n.614-2A=)
c.-2-2A= (n.-2-2A=)
8g.11748917A>CCA370312511GATA4c.617-2A>C (n.617-2A>C)
c.618A>C (p.Val206=)
c.-4A>C (n.-4A>C)
c.614-2A>C (n.614-2A>C)
c.-2-2A>C (n.-2-2A>C)
8g.11748917A>GCA370312512GATA4c.617-2A>G (n.617-2A>G)
c.618A>G (p.Val206=)
c.-4A>G (n.-4A>G)
c.614-2A>G (n.614-2A>G)
c.-2-2A>G (n.-2-2A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.11748917A>TCA370312513GATA4c.617-2A>T (n.617-2A>T)
c.618A>T (p.Val206=)
c.-4A>T (n.-4A>T)
c.614-2A>T (n.614-2A>T)
c.-2-2A>T (n.-2-2A>T)
8g.11748918G>ACA370312514GATA4c.617-1G>A (n.617-1G>A)
c.619G>A (p.Asp207Asn)
c.-3G>A (n.-3G>A)
c.614-1G>A (n.614-1G>A)
c.-2-1G>A (n.-2-1G>A)
 gnomAD v4
8g.11748918G>CCA370312515GATA4c.617-1G>C (n.617-1G>C)
c.619G>C (p.Asp207His)
c.-3G>C (n.-3G>C)
c.614-1G>C (n.614-1G>C)
c.-2-1G>C (n.-2-1G>C)
 dbSNP
8g.11748918G=CA1764079601GATA4c.617-1G= (n.617-1G=)
c.619G= (p.Asp207=)
c.-3G= (n.-3G=)
c.614-1G= (n.614-1G=)
c.-2-1G= (n.-2-1G=)
8g.11748918G>TCA370312516GATA4c.617-1G>T (n.617-1G>T)
c.619G>T (p.Asp207Tyr)
c.-3G>T (n.-3G>T)
c.614-1G>T (n.614-1G>T)
c.-2-1G>T (n.-2-1G>T)
8g.11748919A>CCA370312517GATA4c.617A>C (p.Asp206Ala)
c.620A>C (p.Asp207Ala)
c.-2A>C (n.-2A>C)
c.614A>C (p.Asp205Ala)
8g.11748919A>GCA370312518GATA4c.617A>G (p.Asp206Gly)
c.620A>G (p.Asp207Gly)
c.-2A>G (n.-2A>G)
c.614A>G (p.Asp205Gly)
 dbSNP
8g.11748919A>TCA370312519GATA4c.617A>T (p.Asp206Val)
c.620A>T (p.Asp207Val)
c.-2A>T (n.-2A>T)
c.614A>T (p.Asp205Val)
8g.11748920T>ACA370312520GATA4c.618T>A (p.Asp206Glu)
c.621T>A (p.Asp207Glu)
c.-1T>A (n.-1T>A)
c.615T>A (p.Asp205Glu)
8g.11748920T>CCA459310051GATA4c.618T>C (p.Asp206=)
c.621T>C (p.Asp207=)
c.-1T>C (n.-1T>C)
c.615T>C (p.Asp205=)
 gnomAD v4
8g.11748920T>GCA370312521GATA4c.618T>G (p.Asp206Glu)
c.621T>G (p.Asp207Glu)
c.-1T>G (n.-1T>G)
c.615T>G (p.Asp205Glu)
8g.11748921A>CCA370312524GATA4c.619A>C (p.Met207Leu)
c.622A>C (p.Met208Leu)
c.1A>C (p.Met1Leu)
c.616A>C (p.Met206Leu)
8g.11748921A>GCA370312522GATA4c.619A>G (p.Met207Val)
c.622A>G (p.Met208Val)
c.1A>G (p.Met1Val)
c.616A>G (p.Met206Val)
 gnomAD v4
8g.11748921A>TCA370312523GATA4c.619A>T (p.Met207Leu)
c.622A>T (p.Met208Leu)
c.1A>T (p.Met1Leu)
c.616A>T (p.Met206Leu)
8g.11748922T>ACA370312525GATA4c.620T>A (p.Met207Lys)
c.623T>A (p.Met208Lys)
c.2T>A (p.Met1Lys)
c.617T>A (p.Met206Lys)
 ClinVar dbSNP gnomAD v4
8g.11748922T>CCA4630656GATA4c.620T>C (p.Met207Thr)
c.623T>C (p.Met208Thr)
c.2T>C (p.Met1Thr)
c.617T>C (p.Met206Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11748922T>GCA370312526GATA4c.620T>G (p.Met207Arg)
c.623T>G (p.Met208Arg)
c.2T>G (p.Met1Arg)
c.617T>G (p.Met206Arg)
8g.11748922T=CA1764079604GATA4c.620T= (p.Met207=)
c.623T= (p.Met208=)
c.2T= (p.Met1=)
c.617T= (p.Met206=)
8g.11748923G>ACA370312527GATA4c.621G>A (p.Met207Ile)
c.624G>A (p.Met208Ile)
c.3G>A (p.Met1Ile)
c.618G>A (p.Met206Ile)
 gnomAD v4
8g.11748923G>CCA370312528GATA4c.621G>C (p.Met207Ile)
c.624G>C (p.Met208Ile)
c.3G>C (p.Met1Ile)
c.618G>C (p.Met206Ile)
8g.11748923G>TCA370312529GATA4c.621G>T (p.Met207Ile)
c.624G>T (p.Met208Ile)
c.3G>T (p.Met1Ile)
c.618G>T (p.Met206Ile)
8g.11748924T>ACA370312530GATA4c.622T>A (p.Phe208Ile)
c.625T>A (p.Phe209Ile)
c.4T>A (p.Phe2Ile)
c.619T>A (p.Phe207Ile)
8g.11748924T>CCA370312531GATA4c.622T>C (p.Phe208Leu)
c.625T>C (p.Phe209Leu)
c.4T>C (p.Phe2Leu)
c.619T>C (p.Phe207Leu)
8g.11748924T>GCA370312532GATA4c.622T>G (p.Phe208Val)
c.625T>G (p.Phe209Val)
c.4T>G (p.Phe2Val)
c.619T>G (p.Phe207Val)
8g.11748925T>ACA370312533GATA4c.623T>A (p.Phe208Tyr)
c.626T>A (p.Phe209Tyr)
c.5T>A (p.Phe2Tyr)
c.620T>A (p.Phe207Tyr)
8g.11748925T>CCA370312534GATA4c.623T>C (p.Phe208Ser)
c.626T>C (p.Phe209Ser)
c.5T>C (p.Phe2Ser)
c.620T>C (p.Phe207Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11748925T>GCA370312535GATA4c.623T>G (p.Phe208Cys)
c.626T>G (p.Phe209Cys)
c.5T>G (p.Phe2Cys)
c.620T>G (p.Phe207Cys)
8g.11748925T=CA1764079609GATA4c.623T= (p.Phe208=)
c.626T= (p.Phe209=)
c.5T= (p.Phe2=)
c.620T= (p.Phe207=)
8g.11748926T>ACA370312536GATA4c.624T>A (p.Phe208Leu)
c.627T>A (p.Phe209Leu)
c.6T>A (p.Phe2Leu)
c.621T>A (p.Phe207Leu)
8g.11748926T>CCA459310068GATA4c.624T>C (p.Phe208=)
c.627T>C (p.Phe209=)
c.6T>C (p.Phe2=)
c.621T>C (p.Phe207=)
8g.11748926T>GCA370312537GATA4c.624T>G (p.Phe208Leu)
c.627T>G (p.Phe209Leu)
c.6T>G (p.Phe2Leu)
c.621T>G (p.Phe207Leu)
8g.11748927G>ACA370312540GATA4c.625G>A (p.Asp209Asn)
c.628G>A (p.Asp210Asn)
c.7G>A (p.Asp3Asn)
c.622G>A (p.Asp208Asn)
8g.11748927G>CCA370312539GATA4c.625G>C (p.Asp209His)
c.628G>C (p.Asp210His)
c.7G>C (p.Asp3His)
c.622G>C (p.Asp208His)
 dbSNP gnomAD v3 gnomAD v4
8g.11748927G=CA1764079613GATA4c.625G= (p.Asp209=)
c.628G= (p.Asp210=)
c.7G= (p.Asp3=)
c.622G= (p.Asp208=)
8g.11748927G>TCA370312538GATA4c.625G>T (p.Asp209Tyr)
c.628G>T (p.Asp210Tyr)
c.7G>T (p.Asp3Tyr)
c.622G>T (p.Asp208Tyr)
8g.11748928A=CA1764079615GATA4c.626A= (p.Asp209=)
c.629A= (p.Asp210=)
c.8A= (p.Asp3=)
c.623A= (p.Asp208=)
8g.11748928A>CCA370312541GATA4c.626A>C (p.Asp209Ala)
c.629A>C (p.Asp210Ala)
c.8A>C (p.Asp3Ala)
c.623A>C (p.Asp208Ala)
8g.11748928A>GCA370312542GATA4c.626A>G (p.Asp209Gly)
c.629A>G (p.Asp210Gly)
c.8A>G (p.Asp3Gly)
c.623A>G (p.Asp208Gly)
 dbSNP gnomAD v3 gnomAD v4
8g.11748928A>TCA370312543GATA4c.626A>T (p.Asp209Val)
c.629A>T (p.Asp210Val)
c.8A>T (p.Asp3Val)
c.623A>T (p.Asp208Val)
 ClinVar gnomAD v4
8g.11748929C>ACA370312544GATA4c.627C>A (p.Asp209Glu)
c.630C>A (p.Asp210Glu)
c.9C>A (p.Asp3Glu)
c.624C>A (p.Asp208Glu)
8g.11748929C=CA1764079620GATA4c.627C= (p.Asp209=)
c.630C= (p.Asp210=)
c.9C= (p.Asp3=)
c.624C= (p.Asp208=)
8g.11748929C>GCA370312545GATA4c.627C>G (p.Asp209Glu)
c.630C>G (p.Asp210Glu)
c.9C>G (p.Asp3Glu)
c.624C>G (p.Asp208Glu)
8g.11748929C>TCA4630657GATA4c.627C>T (p.Asp209=)
c.630C>T (p.Asp210=)
c.9C>T (p.Asp3=)
c.624C>T (p.Asp208=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11748930G>ACA4630658GATA4c.628G>A (p.Asp210Asn)
c.631G>A (p.Asp211Asn)
c.10G>A (p.Asp4Asn)
c.625G>A (p.Asp209Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.11748930G>CCA370312546GATA4c.628G>C (p.Asp210His)
c.631G>C (p.Asp211His)
c.10G>C (p.Asp4His)
c.625G>C (p.Asp209His)
8g.11748930G=CA1764079626GATA4c.628G= (p.Asp210=)
c.631G= (p.Asp211=)
c.10G= (p.Asp4=)
c.625G= (p.Asp209=)
8g.11748930G>TCA10587660GATA4c.628G>T (p.Asp210Tyr)
c.631G>T (p.Asp211Tyr)
c.10G>T (p.Asp4Tyr)
c.625G>T (p.Asp209Tyr)
 ClinVar dbSNP gnomAD v4
8g.11748931A>CCA370312547GATA4c.629A>C (p.Asp210Ala)
c.632A>C (p.Asp211Ala)
c.11A>C (p.Asp4Ala)
c.626A>C (p.Asp209Ala)
8g.11748931A>GCA370312548GATA4c.629A>G (p.Asp210Gly)
c.632A>G (p.Asp211Gly)
c.11A>G (p.Asp4Gly)
c.626A>G (p.Asp209Gly)
 gnomAD v3 gnomAD v4
8g.11748931A>TCA370312549GATA4c.629A>T (p.Asp210Val)
c.632A>T (p.Asp211Val)
c.11A>T (p.Asp4Val)
c.626A>T (p.Asp209Val)
8g.11748931_11748934delinsACTTCA1764079634GATA4c.629_632delinsACTT (p.Asp210=)
c.632_635delinsACTT (p.Asp211=)
c.11_14delinsACTT (p.Asp4=)
c.626_629delinsACTT (p.Asp209=)
8g.11748932C>ACA370312550GATA4c.630C>A (p.Asp210Glu)
c.633C>A (p.Asp211Glu)
c.12C>A (p.Asp4Glu)
c.627C>A (p.Asp209Glu)
8g.11748932C>GCA370312551GATA4c.630C>G (p.Asp210Glu)
c.633C>G (p.Asp211Glu)
c.12C>G (p.Asp4Glu)
c.627C>G (p.Asp209Glu)
8g.11748932C>TCA459310079GATA4c.630C>T (p.Asp210=)
c.633C>T (p.Asp211=)
c.12C>T (p.Asp4=)
c.627C>T (p.Asp209=)
8g.11748934_11748936delCA580031725GATA4c.632_634del (p.Phe211del)
c.635_637del (p.Phe212del)
c.14_16del (p.Phe5del)
c.629_631del (p.Phe210del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.11748933T>ACA370312553GATA4c.631T>A (p.Phe211Ile)
c.634T>A (p.Phe212Ile)
c.13T>A (p.Phe5Ile)
c.628T>A (p.Phe210Ile)
8g.11748933T>CCA370312554GATA4c.631T>C (p.Phe211Leu)
c.634T>C (p.Phe212Leu)
c.13T>C (p.Phe5Leu)
c.628T>C (p.Phe210Leu)
8g.11748933T>GCA370312552GATA4c.631T>G (p.Phe211Val)
c.634T>G (p.Phe212Val)
c.13T>G (p.Phe5Val)
c.628T>G (p.Phe210Val)
8g.11748934T>ACA370312555GATA4c.632T>A (p.Phe211Tyr)
c.635T>A (p.Phe212Tyr)
c.14T>A (p.Phe5Tyr)
c.629T>A (p.Phe210Tyr)
8g.11748934T>CCA370312556GATA4c.632T>C (p.Phe211Ser)
c.635T>C (p.Phe212Ser)
c.14T>C (p.Phe5Ser)
c.629T>C (p.Phe210Ser)
8g.11748934T>GCA370312557GATA4c.632T>G (p.Phe211Cys)
c.635T>G (p.Phe212Cys)
c.14T>G (p.Phe5Cys)
c.629T>G (p.Phe210Cys)
8g.11748935C>ACA370312558GATA4c.633C>A (p.Phe211Leu)
c.636C>A (p.Phe212Leu)
c.15C>A (p.Phe5Leu)
c.630C>A (p.Phe210Leu)
8g.11748935C>GCA370312559GATA4c.633C>G (p.Phe211Leu)
c.636C>G (p.Phe212Leu)
c.15C>G (p.Phe5Leu)
c.630C>G (p.Phe210Leu)
8g.11748935C>TCA459310092GATA4c.633C>T (p.Phe211=)
c.636C>T (p.Phe212=)
c.15C>T (p.Phe5=)
c.630C>T (p.Phe210=)
8g.11748936T>ACA370312562GATA4c.634T>A (p.Ser212Thr)
c.637T>A (p.Ser213Thr)
c.16T>A (p.Ser6Thr)
c.631T>A (p.Ser211Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.11748936T>CCA370312561GATA4c.634T>C (p.Ser212Pro)
c.637T>C (p.Ser213Pro)
c.16T>C (p.Ser6Pro)
c.631T>C (p.Ser211Pro)
8g.11748936T>GCA370312560GATA4c.634T>G (p.Ser212Ala)
c.637T>G (p.Ser213Ala)
c.16T>G (p.Ser6Ala)
c.631T>G (p.Ser211Ala)
8g.11748936T=CA1764079640GATA4c.634T= (p.Ser212=)
c.637T= (p.Ser213=)
c.16T= (p.Ser6=)
c.631T= (p.Ser211=)
8g.11748937C>ACA370312563GATA4c.635C>A (p.Ser212Ter)
c.638C>A (p.Ser213Ter)
c.17C>A (p.Ser6Ter)
c.632C>A (p.Ser211Ter)
8g.11748937C=CA1764079642GATA4c.635C= (p.Ser212=)
c.638C= (p.Ser213=)
c.17C= (p.Ser6=)
c.632C= (p.Ser211=)
8g.11748937C>GCA370312564GATA4c.635C>G (p.Ser212Ter)
c.638C>G (p.Ser213Ter)
c.17C>G (p.Ser6Ter)
c.632C>G (p.Ser211Ter)
8g.11748937C>TCA370312565GATA4c.635C>T (p.Ser212Leu)
c.638C>T (p.Ser213Leu)
c.17C>T (p.Ser6Leu)
c.632C>T (p.Ser211Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.11748938A>CCA459310100GATA4c.636A>C (p.Ser212=)
c.639A>C (p.Ser213=)
c.18A>C (p.Ser6=)
c.633A>C (p.Ser211=)
 ClinVar
8g.11748938A>GCA459310102GATA4c.636A>G (p.Ser212=)
c.639A>G (p.Ser213=)
c.18A>G (p.Ser6=)
c.633A>G (p.Ser211=)
 gnomAD v4
8g.11748938A>TCA459310103GATA4c.636A>T (p.Ser212=)
c.639A>T (p.Ser213=)
c.18A>T (p.Ser6=)
c.633A>T (p.Ser211=)
8g.11748939G>ACA370312566GATA4c.637G>A (p.Glu213Lys)
c.640G>A (p.Glu214Lys)
c.19G>A (p.Glu7Lys)
c.634G>A (p.Glu212Lys)
8g.11748939G>CCA172113107GATA4c.637G>C (p.Glu213Gln)
c.640G>C (p.Glu214Gln)
c.19G>C (p.Glu7Gln)
c.634G>C (p.Glu212Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.11748939G=CA1764079644GATA4c.637G= (p.Glu213=)
c.640G= (p.Glu214=)
c.19G= (p.Glu7=)
c.634G= (p.Glu212=)
8g.11748939G>TCA370312567GATA4c.637G>T (p.Glu213Ter)
c.640G>T (p.Glu214Ter)
c.19G>T (p.Glu7Ter)
c.634G>T (p.Glu212Ter)
8g.11748940A>CCA370312568GATA4c.638A>C (p.Glu213Ala)
c.641A>C (p.Glu214Ala)
c.20A>C (p.Glu7Ala)
c.635A>C (p.Glu212Ala)
 gnomAD v4
8g.11748940A>GCA370312570GATA4c.638A>G (p.Glu213Gly)
c.641A>G (p.Glu214Gly)
c.20A>G (p.Glu7Gly)
c.635A>G (p.Glu212Gly)
8g.11748940A>TCA370312569GATA4c.638A>T (p.Glu213Val)
c.641A>T (p.Glu214Val)
c.20A>T (p.Glu7Val)
c.635A>T (p.Glu212Val)
8g.11748941A>CCA370312571GATA4c.639A>C (p.Glu213Asp)
c.642A>C (p.Glu214Asp)
c.21A>C (p.Glu7Asp)
c.636A>C (p.Glu212Asp)
8g.11748941A>GCA459310109GATA4c.639A>G (p.Glu213=)
c.642A>G (p.Glu214=)
c.21A>G (p.Glu7=)
c.636A>G (p.Glu212=)
 gnomAD v4
8g.11748941A>TCA370312572GATA4c.639A>T (p.Glu213Asp)
c.642A>T (p.Glu214Asp)
c.21A>T (p.Glu7Asp)
c.636A>T (p.Glu212Asp)
8g.11748942G>ACA370312573GATA4c.640G>A (p.Gly214Ser)
c.643G>A (p.Gly215Ser)
c.22G>A (p.Gly8Ser)
c.637G>A (p.Gly213Ser)
 dbSNP
8g.11748942G>CCA370312574GATA4c.640G>C (p.Gly214Arg)
c.643G>C (p.Gly215Arg)
c.22G>C (p.Gly8Arg)
c.637G>C (p.Gly213Arg)
8g.11748942G=CA1764079646GATA4c.640G= (p.Gly214=)
c.643G= (p.Gly215=)
c.22G= (p.Gly8=)
c.637G= (p.Gly213=)
8g.11748942G>TCA370312575GATA4c.640G>T (p.Gly214Cys)
c.643G>T (p.Gly215Cys)
c.22G>T (p.Gly8Cys)
c.637G>T (p.Gly213Cys)
8g.11748943G>ACA370312576GATA4c.641G>A (p.Gly214Asp)
c.644G>A (p.Gly215Asp)
c.23G>A (p.Gly8Asp)
c.638G>A (p.Gly213Asp)
8g.11748943G>CCA370312577GATA4c.641G>C (p.Gly214Ala)
c.644G>C (p.Gly215Ala)
c.23G>C (p.Gly8Ala)
c.638G>C (p.Gly213Ala)
8g.11748943G>TCA370312578GATA4c.641G>T (p.Gly214Val)
c.644G>T (p.Gly215Val)
c.23G>T (p.Gly8Val)
c.638G>T (p.Gly213Val)
8g.11748944C>ACA459310119GATA4c.642C>A (p.Gly214=)
c.645C>A (p.Gly215=)
c.24C>A (p.Gly8=)
c.639C>A (p.Gly213=)
8g.11748944C=CA1764079650GATA4c.642C= (p.Gly214=)
c.645C= (p.Gly215=)
c.24C= (p.Gly8=)
c.639C= (p.Gly213=)
8g.11748944C>GCA459310120GATA4c.642C>G (p.Gly214=)
c.645C>G (p.Gly215=)
c.24C>G (p.Gly8=)
c.639C>G (p.Gly213=)
8g.11748944C>TCA459310122GATA4c.642C>T (p.Gly214=)
c.645C>T (p.Gly215=)
c.24C>T (p.Gly8=)
c.639C>T (p.Gly213=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11748945A>CCA459310125GATA4c.643A>C (p.Arg215=)
c.646A>C (p.Arg216=)
c.25A>C (p.Arg9=)
c.640A>C (p.Arg214=)
8g.11748945A>GCA370312579GATA4c.643A>G (p.Arg215Gly)
c.646A>G (p.Arg216Gly)
c.25A>G (p.Arg9Gly)
c.640A>G (p.Arg214Gly)
8g.11748945A>TCA370312580GATA4c.643A>T (p.Arg215Ter)
c.646A>T (p.Arg216Ter)
c.25A>T (p.Arg9Ter)
c.640A>T (p.Arg214Ter)
8g.11748946G>ACA370312581GATA4c.644G>A (p.Arg215Lys)
c.647G>A (p.Arg216Lys)
c.26G>A (p.Arg9Lys)
c.641G>A (p.Arg214Lys)
 gnomAD v4
8g.11748946G>CCA370312583GATA4c.644G>C (p.Arg215Thr)
c.647G>C (p.Arg216Thr)
c.26G>C (p.Arg9Thr)
c.641G>C (p.Arg214Thr)
8g.11748946G>TCA370312582GATA4c.644G>T (p.Arg215Ile)
c.647G>T (p.Arg216Ile)
c.26G>T (p.Arg9Ile)
c.641G>T (p.Arg214Ile)
8g.11748947A>CCA370312584GATA4c.645A>C (p.Arg215Ser)
c.648A>C (p.Arg216Ser)
c.27A>C (p.Arg9Ser)
c.642A>C (p.Arg214Ser)
8g.11748947A>GCA459310131GATA4c.645A>G (p.Arg215=)
c.648A>G (p.Arg216=)
c.27A>G (p.Arg9=)
c.642A>G (p.Arg214=)
8g.11748947A>TCA370312585GATA4c.645A>T (p.Arg215Ser)
c.648A>T (p.Arg216Ser)
c.27A>T (p.Arg9Ser)
c.642A>T (p.Arg214Ser)
8g.11748948G>ACA370312586GATA4c.646G>A (p.Glu216Lys)
c.649G>A (p.Glu217Lys)
c.28G>A (p.Glu10Lys)
c.643G>A (p.Glu215Lys)
8g.11748948G>CCA370312588GATA4c.646G>C (p.Glu216Gln)
c.649G>C (p.Glu217Gln)
c.28G>C (p.Glu10Gln)
c.643G>C (p.Glu215Gln)
 COSMIC
8g.11748948G>TCA370312587GATA4c.646G>T (p.Glu216Ter)
c.649G>T (p.Glu217Ter)
c.28G>T (p.Glu10Ter)
c.643G>T (p.Glu215Ter)
8g.11748949A>CCA370312589GATA4c.647A>C (p.Glu216Ala)
c.650A>C (p.Glu217Ala)
c.29A>C (p.Glu10Ala)
c.644A>C (p.Glu215Ala)
8g.11748949A>GCA370312590GATA4c.647A>G (p.Glu216Gly)
c.650A>G (p.Glu217Gly)
c.29A>G (p.Glu10Gly)
c.644A>G (p.Glu215Gly)
8g.11748949A>TCA370312591GATA4c.647A>T (p.Glu216Val)
c.650A>T (p.Glu217Val)
c.29A>T (p.Glu10Val)
c.644A>T (p.Glu215Val)
8g.11748950G>ACA4630659GATA4c.648G>A (p.Glu216=)
c.651G>A (p.Glu217=)
c.30G>A (p.Glu10=)
c.645G>A (p.Glu215=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11748950G>CCA370312592GATA4c.648G>C (p.Glu216Asp)
c.651G>C (p.Glu217Asp)
c.30G>C (p.Glu10Asp)
c.645G>C (p.Glu215Asp)
 ClinVar
8g.11748950G=CA1764079653GATA4c.648G= (p.Glu216=)
c.651G= (p.Glu217=)
c.30G= (p.Glu10=)
c.645G= (p.Glu215=)
8g.11748950G>TCA370312593GATA4c.648G>T (p.Glu216Asp)
c.651G>T (p.Glu217Asp)
c.30G>T (p.Glu10Asp)
c.645G>T (p.Glu215Asp)
8g.11748954_11748955delCA2739280075GATA4c.652_653del (p.Val218GlnfsTer?)
c.655_656del (p.Val219GlnfsTer?)
c.34_35del (p.Val12GlnfsTer?)
c.649_650del (p.Val217GlnfsTer?)
 ClinVar
8g.11748951T>ACA370312594GATA4c.649T>A (p.Cys217Ser)
c.652T>A (p.Cys218Ser)
c.31T>A (p.Cys11Ser)
c.646T>A (p.Cys216Ser)
8g.11748951T>CCA370312595GATA4c.649T>C (p.Cys217Arg)
c.652T>C (p.Cys218Arg)
c.31T>C (p.Cys11Arg)
c.646T>C (p.Cys216Arg)
8g.11748951T>GCA370312596GATA4c.649T>G (p.Cys217Gly)
c.652T>G (p.Cys218Gly)
c.31T>G (p.Cys11Gly)
c.646T>G (p.Cys216Gly)
8g.11748952G>ACA370312599GATA4c.650G>A (p.Cys217Tyr)
c.653G>A (p.Cys218Tyr)
c.32G>A (p.Cys11Tyr)
c.647G>A (p.Cys216Tyr)
8g.11748952G>CCA370312598GATA4c.650G>C (p.Cys217Ser)
c.653G>C (p.Cys218Ser)
c.32G>C (p.Cys11Ser)
c.647G>C (p.Cys216Ser)
8g.11748952G>TCA370312597GATA4c.650G>T (p.Cys217Phe)
c.653G>T (p.Cys218Phe)
c.32G>T (p.Cys11Phe)
c.647G>T (p.Cys216Phe)
8g.11748953T>ACA370312600GATA4c.651T>A (p.Cys217Ter)
c.654T>A (p.Cys218Ter)
c.33T>A (p.Cys11Ter)
c.648T>A (p.Cys216Ter)
8g.11748953T>CCA459310147GATA4c.651T>C (p.Cys217=)
c.654T>C (p.Cys218=)
c.33T>C (p.Cys11=)
c.648T>C (p.Cys216=)
8g.11748953T>GCA370312601GATA4c.651T>G (p.Cys217Trp)
c.654T>G (p.Cys218Trp)
c.33T>G (p.Cys11Trp)
c.648T>G (p.Cys216Trp)
8g.11748954G>ACA370312602GATA4c.652G>A (p.Val218Ile)
c.655G>A (p.Val219Ile)
c.34G>A (p.Val12Ile)
c.649G>A (p.Val217Ile)
8g.11748954G>CCA370312603GATA4c.652G>C (p.Val218Leu)
c.655G>C (p.Val219Leu)
c.34G>C (p.Val12Leu)
c.649G>C (p.Val217Leu)
8g.11748954G>TCA370312604GATA4c.652G>T (p.Val218Phe)
c.655G>T (p.Val219Phe)
c.34G>T (p.Val12Phe)
c.649G>T (p.Val217Phe)
8g.11748955T>ACA370312605GATA4c.653T>A (p.Val218Asp)
c.656T>A (p.Val219Asp)
c.35T>A (p.Val12Asp)
c.650T>A (p.Val217Asp)
8g.11748955T>CCA370312606GATA4c.653T>C (p.Val218Ala)
c.656T>C (p.Val219Ala)
c.35T>C (p.Val12Ala)
c.650T>C (p.Val217Ala)
8g.11748955T>GCA370312607GATA4c.653T>G (p.Val218Gly)
c.656T>G (p.Val219Gly)
c.35T>G (p.Val12Gly)
c.650T>G (p.Val217Gly)
8g.11748956C>ACA459310154GATA4c.654C>A (p.Val218=)
c.657C>A (p.Val219=)
c.36C>A (p.Val12=)
c.651C>A (p.Val217=)
8g.11748956C=CA1764079656GATA4c.654C= (p.Val218=)
c.657C= (p.Val219=)
c.36C= (p.Val12=)
c.651C= (p.Val217=)
8g.11748956C>GCA459310155GATA4c.654C>G (p.Val218=)
c.657C>G (p.Val219=)
c.36C>G (p.Val12=)
c.651C>G (p.Val217=)
 dbSNP
8g.11748956C>TCA459310157GATA4c.654C>T (p.Val218=)
c.657C>T (p.Val219=)
c.36C>T (p.Val12=)
c.651C>T (p.Val217=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.11748957A>CCA370312608GATA4c.655A>C (p.Asn219His)
c.658A>C (p.Asn220His)
c.37A>C (p.Asn13His)
c.652A>C (p.Asn218His)
8g.11748957A>GCA370312609GATA4c.655A>G (p.Asn219Asp)
c.658A>G (p.Asn220Asp)
c.37A>G (p.Asn13Asp)
c.652A>G (p.Asn218Asp)
8g.11748957A>TCA370312610GATA4c.655A>T (p.Asn219Tyr)
c.658A>T (p.Asn220Tyr)
c.37A>T (p.Asn13Tyr)
c.652A>T (p.Asn218Tyr)
8g.11748958A>CCA370312612GATA4c.656A>C (p.Asn219Thr)
c.659A>C (p.Asn220Thr)
c.38A>C (p.Asn13Thr)
c.653A>C (p.Asn218Thr)
8g.11748958A>GCA370312613GATA4c.656A>G (p.Asn219Ser)
c.659A>G (p.Asn220Ser)
c.38A>G (p.Asn13Ser)
c.653A>G (p.Asn218Ser)
 ClinVar dbSNP COSMIC
8g.11748958A>TCA370312611GATA4c.656A>T (p.Asn219Ile)
c.659A>T (p.Asn220Ile)
c.38A>T (p.Asn13Ile)
c.653A>T (p.Asn218Ile)
8g.11748959C>ACA370312614GATA4c.657C>A (p.Asn219Lys)
c.660C>A (p.Asn220Lys)
c.39C>A (p.Asn13Lys)
c.654C>A (p.Asn218Lys)
8g.11748959C>GCA370312615GATA4c.657C>G (p.Asn219Lys)
c.660C>G (p.Asn220Lys)
c.39C>G (p.Asn13Lys)
c.654C>G (p.Asn218Lys)
8g.11748959C>TCA459310164GATA4c.657C>T (p.Asn219=)
c.660C>T (p.Asn220=)
c.39C>T (p.Asn13=)
c.654C>T (p.Asn218=)
8g.11748960T>ACA370312616GATA4c.658T>A (p.Cys220Ser)
c.661T>A (p.Cys221Ser)
c.40T>A (p.Cys14Ser)
c.655T>A (p.Cys219Ser)
8g.11748960T>CCA370312617GATA4c.658T>C (p.Cys220Arg)
c.661T>C (p.Cys221Arg)
c.40T>C (p.Cys14Arg)
c.655T>C (p.Cys219Arg)
8g.11748960T>GCA370312618GATA4c.658T>G (p.Cys220Gly)
c.661T>G (p.Cys221Gly)
c.40T>G (p.Cys14Gly)
c.655T>G (p.Cys219Gly)
8g.11748961G>ACA370312621GATA4c.659G>A (p.Cys220Tyr)
c.662G>A (p.Cys221Tyr)
c.41G>A (p.Cys14Tyr)
c.656G>A (p.Cys219Tyr)
8g.11748961G>CCA370312619GATA4c.659G>C (p.Cys220Ser)
c.662G>C (p.Cys221Ser)
c.41G>C (p.Cys14Ser)
c.656G>C (p.Cys219Ser)
8g.11748961G>TCA370312620GATA4c.659G>T (p.Cys220Phe)
c.662G>T (p.Cys221Phe)
c.41G>T (p.Cys14Phe)
c.656G>T (p.Cys219Phe)
8g.11748962T>ACA370312622GATA4c.660T>A (p.Cys220Ter)
c.663T>A (p.Cys221Ter)
c.42T>A (p.Cys14Ter)
c.657T>A (p.Cys219Ter)
8g.11748962T>CCA459310171GATA4c.660T>C (p.Cys220=)
c.663T>C (p.Cys221=)
c.42T>C (p.Cys14=)
c.657T>C (p.Cys219=)
 gnomAD v4
8g.11748962T>GCA370312623GATA4c.660T>G (p.Cys220Trp)
c.663T>G (p.Cys221Trp)
c.42T>G (p.Cys14Trp)
c.657T>G (p.Cys219Trp)
8g.11748963G>ACA210836GATA4c.661G>A (p.Gly221Arg)
c.664G>A (p.Gly222Arg)
c.43G>A (p.Gly15Arg)
c.658G>A (p.Gly220Arg)
 ClinVar dbSNP
8g.11748963G>CCA370312624GATA4c.661G>C (p.Gly221Arg)
c.664G>C (p.Gly222Arg)
c.43G>C (p.Gly15Arg)
c.658G>C (p.Gly220Arg)
8g.11748963G=CA1764079660GATA4c.661G= (p.Gly221=)
c.664G= (p.Gly222=)
c.43G= (p.Gly15=)
c.658G= (p.Gly220=)
8g.11748963G>TCA370312625GATA4c.661G>T (p.Gly221Trp)
c.664G>T (p.Gly222Trp)
c.43G>T (p.Gly15Trp)
c.658G>T (p.Gly220Trp)
 COSMIC
8g.11748964G>ACA370312626GATA4c.662G>A (p.Gly221Glu)
c.665G>A (p.Gly222Glu)
c.44G>A (p.Gly15Glu)
c.659G>A (p.Gly220Glu)
8g.11748964G>CCA370312628GATA4c.662G>C (p.Gly221Ala)
c.665G>C (p.Gly222Ala)
c.44G>C (p.Gly15Ala)
c.659G>C (p.Gly220Ala)
8g.11748964G>TCA370312627GATA4c.662G>T (p.Gly221Val)
c.665G>T (p.Gly222Val)
c.44G>T (p.Gly15Val)
c.659G>T (p.Gly220Val)
8g.11748965G>ACA459310178GATA4c.663G>A (p.Gly221=)
c.666G>A (p.Gly222=)
c.45G>A (p.Gly15=)
c.660G>A (p.Gly220=)
 dbSNP
8g.11748965G>CCA459310180GATA4c.663G>C (p.Gly221=)
c.666G>C (p.Gly222=)
c.45G>C (p.Gly15=)
c.660G>C (p.Gly220=)
8g.11748965G=CA1764079663GATA4c.663G= (p.Gly221=)
c.666G= (p.Gly222=)
c.45G= (p.Gly15=)
c.660G= (p.Gly220=)
8g.11748965G>TCA459310181GATA4c.663G>T (p.Gly221=)
c.666G>T (p.Gly222=)
c.45G>T (p.Gly15=)
c.660G>T (p.Gly220=)
8g.11748966G>ACA370312629GATA4c.664G>A (p.Ala222Thr)
c.667G>A (p.Ala223Thr)
c.46G>A (p.Ala16Thr)
c.661G>A (p.Ala221Thr)
 ClinVar dbSNP gnomAD v4
8g.11748966G>CCA370312630GATA4c.664G>C (p.Ala222Pro)
c.667G>C (p.Ala223Pro)
c.46G>C (p.Ala16Pro)
c.661G>C (p.Ala221Pro)
8g.11748966G=CA1764079666GATA4c.664G= (p.Ala222=)
c.667G= (p.Ala223=)
c.46G= (p.Ala16=)
c.661G= (p.Ala221=)
8g.11748966G>TCA370312631GATA4c.664G>T (p.Ala222Ser)
c.667G>T (p.Ala223Ser)
c.46G>T (p.Ala16Ser)
c.661G>T (p.Ala221Ser)
8g.11748966_11748967insACCTCAGTGTGAGGTGAGAGGCCA2779065966GATA4c.664_665insACCTCAGTGTGAGGTGAGAGGC (p.Ala222AspfsTer6)
c.667_668insACCTCAGTGTGAGGTGAGAGGC (p.Ala223AspfsTer6)
c.46_47insACCTCAGTGTGAGGTGAGAGGC (p.Ala16AspfsTer6)
c.661_662insACCTCAGTGTGAGGTGAGAGGC (p.Ala221AspfsTer6)
8g.11748967C>ACA370312632GATA4c.665C>A (p.Ala222Asp)
c.668C>A (p.Ala223Asp)
c.47C>A (p.Ala16Asp)
c.662C>A (p.Ala221Asp)
8g.11748967C>GCA370312633GATA4c.665C>G (p.Ala222Gly)
c.668C>G (p.Ala223Gly)
c.47C>G (p.Ala16Gly)
c.662C>G (p.Ala221Gly)
8g.11748967C>TCA370312634GATA4c.665C>T (p.Ala222Val)
c.668C>T (p.Ala223Val)
c.47C>T (p.Ala16Val)
c.662C>T (p.Ala221Val)
8g.11748968T>ACA459310188GATA4c.666T>A (p.Ala222=)
c.669T>A (p.Ala223=)
c.48T>A (p.Ala16=)
c.663T>A (p.Ala221=)
8g.11748968T>CCA459310189GATA4c.666T>C (p.Ala222=)
c.669T>C (p.Ala223=)
c.48T>C (p.Ala16=)
c.663T>C (p.Ala221=)
8g.11748968T>GCA459310191GATA4c.666T>G (p.Ala222=)
c.669T>G (p.Ala223=)
c.48T>G (p.Ala16=)
c.663T>G (p.Ala221=)
8g.11748969A=CA1764079669GATA4c.667A= (p.Met223=)
c.670A= (p.Met224=)
c.49A= (p.Met17=)
c.664A= (p.Met222=)
8g.11748969A>CCA172113118GATA4c.667A>C (p.Met223Leu)
c.670A>C (p.Met224Leu)
c.49A>C (p.Met17Leu)
c.664A>C (p.Met222Leu)
 dbSNP
8g.11748969A>GCA370312635GATA4c.667A>G (p.Met223Val)
c.670A>G (p.Met224Val)
c.49A>G (p.Met17Val)
c.664A>G (p.Met222Val)
8g.11748969A>TCA370312636GATA4c.667A>T (p.Met223Leu)
c.670A>T (p.Met224Leu)
c.49A>T (p.Met17Leu)
c.664A>T (p.Met222Leu)
8g.11748969_11748970insGGGCCA2779065967GATA4c.667_668insGGGC (p.Met223ArgfsTer?)
c.670_671insGGGC (p.Met224ArgfsTer?)
c.49_50insGGGC (p.Met17ArgfsTer?)
c.664_665insGGGC (p.Met222ArgfsTer?)
8g.11748970T>ACA370312637GATA4c.668T>A (p.Met223Lys)
c.671T>A (p.Met224Lys)
c.50T>A (p.Met17Lys)
c.665T>A (p.Met222Lys)
8g.11748970T>CCA370312638GATA4c.668T>C (p.Met223Thr)
c.671T>C (p.Met224Thr)
c.50T>C (p.Met17Thr)
c.665T>C (p.Met222Thr)
8g.11748970T>GCA370312639GATA4c.668T>G (p.Met223Arg)
c.671T>G (p.Met224Arg)
c.50T>G (p.Met17Arg)
c.665T>G (p.Met222Arg)
8g.11748971G>ACA370312641GATA4c.669G>A (p.Met223Ile)
c.672G>A (p.Met224Ile)
c.51G>A (p.Met17Ile)
c.666G>A (p.Met222Ile)
8g.11748971G>CCA370312642GATA4c.669G>C (p.Met223Ile)
c.672G>C (p.Met224Ile)
c.51G>C (p.Met17Ile)
c.666G>C (p.Met222Ile)
8g.11748971G>TCA370312640GATA4c.669G>T (p.Met223Ile)
c.672G>T (p.Met224Ile)
c.51G>T (p.Met17Ile)
c.666G>T (p.Met222Ile)
8g.11748971_11748972insGAGGCTCTGAATGTGATACCTGGACTGAAATCCAGGTGTCCCGCCTCCCAGCCCAGGACGTGGGTGATCACTGCAACTTTTCA2779065969GATA4c.669_670insGAGGCTCTGAATGTGATACCTGGACTGAAATCCAGGTGTCCCGCCTCCCAGCCCAGGACGTGGGTGATCACTGCAACTTTT (p.Met223_Ser224insGluAlaLeuAsnValIleProGlyLeuLysSerArgCysProAlaSerGlnProArgThrTrpValIleThrAlaThrPhe)
c.672_673insGAGGCTCTGAATGTGATACCTGGACTGAAATCCAGGTGTCCCGCCTCCCAGCCCAGGACGTGGGTGATCACTGCAACTTTT (p.Met224_Ser225insGluAlaLeuAsnValIleProGlyLeuLysSerArgCysProAlaSerGlnProArgThrTrpValIleThrAlaThrPhe)
c.51_52insGAGGCTCTGAATGTGATACCTGGACTGAAATCCAGGTGTCCCGCCTCCCAGCCCAGGACGTGGGTGATCACTGCAACTTTT (p.Met17_Ser18insGluAlaLeuAsnValIleProGlyLeuLysSerArgCysProAlaSerGlnProArgThrTrpValIleThrAlaThrPhe)
c.666_667insGAGGCTCTGAATGTGATACCTGGACTGAAATCCAGGTGTCCCGCCTCCCAGCCCAGGACGTGGGTGATCACTGCAACTTTT (p.Met222_Ser223insGluAlaLeuAsnValIleProGlyLeuLysSerArgCysProAlaSerGlnProArgThrTrpValIleThrAlaThrPhe)
8g.11748972T>ACA370312645GATA4c.670T>A (p.Ser224Thr)
c.673T>A (p.Ser225Thr)
c.52T>A (p.Ser18Thr)
c.667T>A (p.Ser223Thr)
8g.11748972T>CCA370312643GATA4c.670T>C (p.Ser224Pro)
c.673T>C (p.Ser225Pro)
c.52T>C (p.Ser18Pro)
c.667T>C (p.Ser223Pro)
8g.11748972T>GCA370312644GATA4c.670T>G (p.Ser224Ala)
c.673T>G (p.Ser225Ala)
c.52T>G (p.Ser18Ala)
c.667T>G (p.Ser223Ala)
8g.11748973C>ACA370312646GATA4c.671C>A (p.Ser224Tyr)
c.674C>A (p.Ser225Tyr)
c.53C>A (p.Ser18Tyr)
c.668C>A (p.Ser223Tyr)
8g.11748973C>GCA370312647GATA4c.671C>G (p.Ser224Cys)
c.674C>G (p.Ser225Cys)
c.53C>G (p.Ser18Cys)
c.668C>G (p.Ser223Cys)
8g.11748973C>TCA370312648GATA4c.671C>T (p.Ser224Phe)
c.674C>T (p.Ser225Phe)
c.53C>T (p.Ser18Phe)
c.668C>T (p.Ser223Phe)
8g.11748974C>ACA459310207GATA4c.672C>A (p.Ser224=)
c.675C>A (p.Ser225=)
c.54C>A (p.Ser18=)
c.669C>A (p.Ser223=)
8g.11748974C>GCA459310205GATA4c.672C>G (p.Ser224=)
c.675C>G (p.Ser225=)
c.54C>G (p.Ser18=)
c.669C>G (p.Ser223=)
8g.11748974C>TCA459310203GATA4c.672C>T (p.Ser224=)
c.675C>T (p.Ser225=)
c.54C>T (p.Ser18=)
c.669C>T (p.Ser223=)
8g.11748975A=CA1764079671GATA4c.673A= (p.Thr225=)
c.676A= (p.Thr226=)
c.55A= (p.Thr19=)
c.670A= (p.Thr224=)
8g.11748975A>CCA370312649GATA4c.673A>C (p.Thr225Pro)
c.676A>C (p.Thr226Pro)
c.55A>C (p.Thr19Pro)
c.670A>C (p.Thr224Pro)
 dbSNP
8g.11748975A>GCA370312650GATA4c.673A>G (p.Thr225Ala)
c.676A>G (p.Thr226Ala)
c.55A>G (p.Thr19Ala)
c.670A>G (p.Thr224Ala)
8g.11748975A>TCA370312651GATA4c.673A>T (p.Thr225Ser)
c.676A>T (p.Thr226Ser)
c.55A>T (p.Thr19Ser)
c.670A>T (p.Thr224Ser)
8g.11748976C>ACA370312652GATA4c.674C>A (p.Thr225Asn)
c.677C>A (p.Thr226Asn)
c.56C>A (p.Thr19Asn)
c.671C>A (p.Thr224Asn)
8g.11748976C>GCA370312653GATA4c.674C>G (p.Thr225Ser)
c.677C>G (p.Thr226Ser)
c.56C>G (p.Thr19Ser)
c.671C>G (p.Thr224Ser)
8g.11748976C>TCA370312654GATA4c.674C>T (p.Thr225Ile)
c.677C>T (p.Thr226Ile)
c.56C>T (p.Thr19Ile)
c.671C>T (p.Thr224Ile)
 gnomAD v4
8g.11748979delCA2695208946GATA4c.677del (p.Pro226ArgfsTer22)
c.680del (p.Pro227ArgfsTer22)
c.59del (p.Pro20ArgfsTer22)
c.674del (p.Pro225ArgfsTer22)
8g.11748977C>ACA459310214GATA4c.675C>A (p.Thr225=)
c.678C>A (p.Thr226=)
c.57C>A (p.Thr19=)
c.672C>A (p.Thr224=)
 ClinVar
8g.11748977C=CA1764079675GATA4c.675C= (p.Thr225=)
c.678C= (p.Thr226=)
c.57C= (p.Thr19=)
c.672C= (p.Thr224=)
8g.11748977C>GCA459310217GATA4c.675C>G (p.Thr225=)
c.678C>G (p.Thr226=)
c.57C>G (p.Thr19=)
c.672C>G (p.Thr224=)
8g.11748977C>TCA4630660GATA4c.675C>T (p.Thr225=)
c.678C>T (p.Thr226=)
c.57C>T (p.Thr19=)
c.672C>T (p.Thr224=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11748978C>ACA370312656GATA4c.676C>A (p.Pro226Thr)
c.679C>A (p.Pro227Thr)
c.58C>A (p.Pro20Thr)
c.673C>A (p.Pro225Thr)
8g.11748978C=CA1764079680GATA4c.676C= (p.Pro226=)
c.679C= (p.Pro227=)
c.58C= (p.Pro20=)
c.673C= (p.Pro225=)
8g.11748978C>GCA172113126GATA4c.676C>G (p.Pro226Ala)
c.679C>G (p.Pro227Ala)
c.58C>G (p.Pro20Ala)
c.673C>G (p.Pro225Ala)
 dbSNP gnomAD v4
8g.11748978C>TCA370312655GATA4c.676C>T (p.Pro226Ser)
c.679C>T (p.Pro227Ser)
c.58C>T (p.Pro20Ser)
c.673C>T (p.Pro225Ser)
8g.11748979C>ACA370312657GATA4c.677C>A (p.Pro226Gln)
c.680C>A (p.Pro227Gln)
c.59C>A (p.Pro20Gln)
c.674C>A (p.Pro225Gln)
8g.11748979C>GCA370312658GATA4c.677C>G (p.Pro226Arg)
c.680C>G (p.Pro227Arg)
c.59C>G (p.Pro20Arg)
c.674C>G (p.Pro225Arg)
8g.11748979C>TCA370312659GATA4c.677C>T (p.Pro226Leu)
c.680C>T (p.Pro227Leu)
c.59C>T (p.Pro20Leu)
c.674C>T (p.Pro225Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.11748980G>ACA459310224GATA4c.678G>A (p.Pro226=)
c.681G>A (p.Pro227=)
c.60G>A (p.Pro20=)
c.675G>A (p.Pro225=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.11748980G>CCA459310226GATA4c.678G>C (p.Pro226=)
c.681G>C (p.Pro227=)
c.60G>C (p.Pro20=)
c.675G>C (p.Pro225=)
 dbSNP gnomAD v3 gnomAD v4
8g.11748980G=CA1764079683GATA4c.678G= (p.Pro226=)
c.681G= (p.Pro227=)
c.60G= (p.Pro20=)
c.675G= (p.Pro225=)
8g.11748980G>TCA459310228GATA4c.678G>T (p.Pro226=)
c.681G>T (p.Pro227=)
c.60G>T (p.Pro20=)
c.675G>T (p.Pro225=)
8g.11748981C>ACA370312660GATA4c.679C>A (p.Leu227Ile)
c.682C>A (p.Leu228Ile)
c.61C>A (p.Leu21Ile)
c.676C>A (p.Leu226Ile)
8g.11748981C>GCA370312661GATA4c.679C>G (p.Leu227Val)
c.682C>G (p.Leu228Val)
c.61C>G (p.Leu21Val)
c.676C>G (p.Leu226Val)
8g.11748981C>TCA370312662GATA4c.679C>T (p.Leu227Phe)
c.682C>T (p.Leu228Phe)
c.61C>T (p.Leu21Phe)
c.676C>T (p.Leu226Phe)
8g.11748982T>ACA370312663GATA4c.680T>A (p.Leu227His)
c.683T>A (p.Leu228His)
c.62T>A (p.Leu21His)
c.677T>A (p.Leu226His)
8g.11748982T>CCA370312664GATA4c.680T>C (p.Leu227Pro)
c.683T>C (p.Leu228Pro)
c.62T>C (p.Leu21Pro)
c.677T>C (p.Leu226Pro)
 ClinVar dbSNP
8g.11748982T>GCA370312665GATA4c.680T>G (p.Leu227Arg)
c.683T>G (p.Leu228Arg)
c.62T>G (p.Leu21Arg)
c.677T>G (p.Leu226Arg)
8g.11748983C>ACA459310235GATA4c.681C>A (p.Leu227=)
c.684C>A (p.Leu228=)
c.63C>A (p.Leu21=)
c.678C>A (p.Leu226=)
8g.11748983C=CA1764079687GATA4c.681C= (p.Leu227=)
c.684C= (p.Leu228=)
c.63C= (p.Leu21=)
c.678C= (p.Leu226=)
8g.11748983C>GCA459310236GATA4c.681C>G (p.Leu227=)
c.684C>G (p.Leu228=)
c.63C>G (p.Leu21=)
c.678C>G (p.Leu226=)
 ClinVar dbSNP gnomAD v4
8g.11748983C>TCA459310239GATA4c.681C>T (p.Leu227=)
c.684C>T (p.Leu228=)
c.63C>T (p.Leu21=)
c.678C>T (p.Leu226=)
8g.11748984T>ACA347951GATA4c.682T>A (p.Trp228Arg)
c.685T>A (p.Trp229Arg)
c.64T>A (p.Trp22Arg)
c.679T>A (p.Trp227Arg)
 ClinVar dbSNP
8g.11748984T>CCA370312666GATA4c.682T>C (p.Trp228Arg)
c.685T>C (p.Trp229Arg)
c.64T>C (p.Trp22Arg)
c.679T>C (p.Trp227Arg)
8g.11748984T>GCA370312667GATA4c.682T>G (p.Trp228Gly)
c.685T>G (p.Trp229Gly)
c.64T>G (p.Trp22Gly)
c.679T>G (p.Trp227Gly)
8g.11748984T=CA1764079690GATA4c.682T= (p.Trp228=)
c.685T= (p.Trp229=)
c.64T= (p.Trp22=)
c.679T= (p.Trp227=)
8g.11748985G>ACA370312669GATA4c.683G>A (p.Trp228Ter)
c.686G>A (p.Trp229Ter)
c.65G>A (p.Trp22Ter)
c.680G>A (p.Trp227Ter)
8g.11748985G>CCA370312670GATA4c.683G>C (p.Trp228Ser)
c.686G>C (p.Trp229Ser)
c.65G>C (p.Trp22Ser)
c.680G>C (p.Trp227Ser)
8g.11748985G>TCA370312668GATA4c.683G>T (p.Trp228Leu)
c.686G>T (p.Trp229Leu)
c.65G>T (p.Trp22Leu)
c.680G>T (p.Trp227Leu)
8g.11748986G>ACA370312671GATA4c.684G>A (p.Trp228Ter)
c.687G>A (p.Trp229Ter)
c.66G>A (p.Trp22Ter)
c.681G>A (p.Trp227Ter)
8g.11748986G>CCA370312672GATA4c.684G>C (p.Trp228Cys)
c.687G>C (p.Trp229Cys)
c.66G>C (p.Trp22Cys)
c.681G>C (p.Trp227Cys)
 ClinVar dbSNP
8g.11748986G=CA1764079698GATA4c.684G= (p.Trp228=)
c.687G= (p.Trp229=)
c.66G= (p.Trp22=)
c.681G= (p.Trp227=)
8g.11748986G>TCA370312673GATA4c.684G>T (p.Trp228Cys)
c.687G>T (p.Trp229Cys)
c.66G>T (p.Trp22Cys)
c.681G>T (p.Trp227Cys)
8g.11748987A>CCA459310248GATA4c.685A>C (p.Arg229=)
c.688A>C (p.Arg230=)
c.67A>C (p.Arg23=)
c.682A>C (p.Arg228=)
 gnomAD v4
8g.11748987A>GCA370312674GATA4c.685A>G (p.Arg229Gly)
c.688A>G (p.Arg230Gly)
c.67A>G (p.Arg23Gly)
c.682A>G (p.Arg228Gly)
8g.11748987A>TCA370312675GATA4c.685A>T (p.Arg229Trp)
c.688A>T (p.Arg230Trp)
c.67A>T (p.Arg23Trp)
c.682A>T (p.Arg228Trp)

Number of alleles fetched