Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.11748866del | CA2686136865 | GATA4 | c.617-53del (n.617-53del) c.617-50del (n.617-50del) c.-5-50del (n.-5-50del) c.614-53del (n.614-53del) c.-2-53del (n.-2-53del) | gnomAD v4 |
8 | g.11748866A= | CA1764079527 | GATA4 | c.617-53A= (n.617-53A=) c.617-50A= (n.617-50A=) c.-5-50A= (n.-5-50A=) c.614-53A= (n.614-53A=) c.-2-53A= (n.-2-53A=) | |
8 | g.11748866A>G | CA4630642 | GATA4 | c.617-53A>G (n.617-53A>G) c.617-50A>G (n.617-50A>G) c.-5-50A>G (n.-5-50A>G) c.614-53A>G (n.614-53A>G) c.-2-53A>G (n.-2-53A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11748867C>A | CA2686136873 | GATA4 | c.617-52C>A (n.617-52C>A) c.617-49C>A (n.617-49C>A) c.-5-49C>A (n.-5-49C>A) c.614-52C>A (n.614-52C>A) c.-2-52C>A (n.-2-52C>A) | gnomAD v4 |
8 | g.11748867C= | CA1764079529 | GATA4 | c.617-52C= (n.617-52C=) c.617-49C= (n.617-49C=) c.-5-49C= (n.-5-49C=) c.614-52C= (n.614-52C=) c.-2-52C= (n.-2-52C=) | |
8 | g.11748867C>G | CA4630643 | GATA4 | c.617-52C>G (n.617-52C>G) c.617-49C>G (n.617-49C>G) c.-5-49C>G (n.-5-49C>G) c.614-52C>G (n.614-52C>G) c.-2-52C>G (n.-2-52C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11748868A= | CA1764079531 | GATA4 | c.617-51A= (n.617-51A=) c.617-48A= (n.617-48A=) c.-5-48A= (n.-5-48A=) c.614-51A= (n.614-51A=) c.-2-51A= (n.-2-51A=) | |
8 | g.11748868A>G | CA1764079532 | GATA4 | c.617-51A>G (n.617-51A>G) c.617-48A>G (n.617-48A>G) c.-5-48A>G (n.-5-48A>G) c.614-51A>G (n.614-51A>G) c.-2-51A>G (n.-2-51A>G) | dbSNP |
8 | g.11748871G>C | CA2686136875 | GATA4 | c.617-48G>C (n.617-48G>C) c.617-45G>C (n.617-45G>C) c.-5-45G>C (n.-5-45G>C) c.614-48G>C (n.614-48G>C) c.-2-48G>C (n.-2-48G>C) | gnomAD v4 |
8 | g.11748871G= | CA1764079533 | GATA4 | c.617-48G= (n.617-48G=) c.617-45G= (n.617-45G=) c.-5-45G= (n.-5-45G=) c.614-48G= (n.614-48G=) c.-2-48G= (n.-2-48G=) | |
8 | g.11748871G>T | CA4630644 | GATA4 | c.617-48G>T (n.617-48G>T) c.617-45G>T (n.617-45G>T) c.-5-45G>T (n.-5-45G>T) c.614-48G>T (n.614-48G>T) c.-2-48G>T (n.-2-48G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11748872A= | CA1764079536 | GATA4 | c.617-47A= (n.617-47A=) c.617-44A= (n.617-44A=) c.-5-44A= (n.-5-44A=) c.614-47A= (n.614-47A=) c.-2-47A= (n.-2-47A=) | |
8 | g.11748872A>T | CA172113026 | GATA4 | c.617-47A>T (n.617-47A>T) c.617-44A>T (n.617-44A>T) c.-5-44A>T (n.-5-44A>T) c.614-47A>T (n.614-47A>T) c.-2-47A>T (n.-2-47A>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11748873_11748874dup | CA4630645 | GATA4 | c.617-46_617-45dup (n.617-46_617-45dup) c.617-43_617-42dup (n.617-43_617-42dup) c.-5-43_-5-42dup (n.-5-43_-5-42dup) c.614-46_614-45dup (n.614-46_614-45dup) c.-2-46_-2-45dup (n.-2-46_-2-45dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11748874T>A | CA1110739176 | GATA4 | c.617-45T>A (n.617-45T>A) c.617-42T>A (n.617-42T>A) c.-5-42T>A (n.-5-42T>A) c.614-45T>A (n.614-45T>A) c.-2-45T>A (n.-2-45T>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11748874T= | CA1764079540 | GATA4 | c.617-45T= (n.617-45T=) c.617-42T= (n.617-42T=) c.-5-42T= (n.-5-42T=) c.614-45T= (n.614-45T=) c.-2-45T= (n.-2-45T=) | |
8 | g.11748875T>A | CA2740915008 | GATA4 | c.617-44T>A (n.617-44T>A) c.617-41T>A (n.617-41T>A) c.-5-41T>A (n.-5-41T>A) c.614-44T>A (n.614-44T>A) c.-2-44T>A (n.-2-44T>A) | |
8 | g.11748875T>G | CA846154120 | GATA4 | c.617-44T>G (n.617-44T>G) c.617-41T>G (n.617-41T>G) c.-5-41T>G (n.-5-41T>G) c.614-44T>G (n.614-44T>G) c.-2-44T>G (n.-2-44T>G) | dbSNP |
8 | g.11748875T= | CA1764079542 | GATA4 | c.617-44T= (n.617-44T=) c.617-41T= (n.617-41T=) c.-5-41T= (n.-5-41T=) c.614-44T= (n.614-44T=) c.-2-44T= (n.-2-44T=) | |
8 | g.11748876A>T | CA2579094093 | GATA4 | c.617-43A>T (n.617-43A>T) c.617-40A>T (n.617-40A>T) c.-5-40A>T (n.-5-40A>T) c.614-43A>T (n.614-43A>T) c.-2-43A>T (n.-2-43A>T) | |
8 | g.11748879C>A | CA2686136883 | GATA4 | c.617-40C>A (n.617-40C>A) c.617-37C>A (n.617-37C>A) c.-5-37C>A (n.-5-37C>A) c.614-40C>A (n.614-40C>A) c.-2-40C>A (n.-2-40C>A) | gnomAD v4 |
8 | g.11748879C= | CA1764079545 | GATA4 | c.617-40C= (n.617-40C=) c.617-37C= (n.617-37C=) c.-5-37C= (n.-5-37C=) c.614-40C= (n.614-40C=) c.-2-40C= (n.-2-40C=) | |
8 | g.11748879C>G | CA2686136881 | GATA4 | c.617-40C>G (n.617-40C>G) c.617-37C>G (n.617-37C>G) c.-5-37C>G (n.-5-37C>G) c.614-40C>G (n.614-40C>G) c.-2-40C>G (n.-2-40C>G) | gnomAD v4 |
8 | g.11748879C>T | CA846154121 | GATA4 | c.617-40C>T (n.617-40C>T) c.617-37C>T (n.617-37C>T) c.-5-37C>T (n.-5-37C>T) c.614-40C>T (n.614-40C>T) c.-2-40C>T (n.-2-40C>T) | dbSNP gnomAD v4 |
8 | g.11748880C>A | CA4630646 | GATA4 | c.617-39C>A (n.617-39C>A) c.617-36C>A (n.617-36C>A) c.-5-36C>A (n.-5-36C>A) c.614-39C>A (n.614-39C>A) c.-2-39C>A (n.-2-39C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11748880C= | CA1764079548 | GATA4 | c.617-39C= (n.617-39C=) c.617-36C= (n.617-36C=) c.-5-36C= (n.-5-36C=) c.614-39C= (n.614-39C=) c.-2-39C= (n.-2-39C=) | |
8 | g.11748880C>T | CA2579094094 | GATA4 | c.617-39C>T (n.617-39C>T) c.617-36C>T (n.617-36C>T) c.-5-36C>T (n.-5-36C>T) c.614-39C>T (n.614-39C>T) c.-2-39C>T (n.-2-39C>T) | gnomAD v4 |
8 | g.11748882C= | CA1764079551 | GATA4 | c.617-37C= (n.617-37C=) c.617-34C= (n.617-34C=) c.-5-34C= (n.-5-34C=) c.614-37C= (n.614-37C=) c.-2-37C= (n.-2-37C=) | |
8 | g.11748882C>G | CA846154123 | GATA4 | c.617-37C>G (n.617-37C>G) c.617-34C>G (n.617-34C>G) c.-5-34C>G (n.-5-34C>G) c.614-37C>G (n.614-37C>G) c.-2-37C>G (n.-2-37C>G) | dbSNP |
8 | g.11748882C>T | CA2686136888 | GATA4 | c.617-37C>T (n.617-37C>T) c.617-34C>T (n.617-34C>T) c.-5-34C>T (n.-5-34C>T) c.614-37C>T (n.614-37C>T) c.-2-37C>T (n.-2-37C>T) | gnomAD v4 |
8 | g.11748882_11748884delinsCTG | CA1764079550 | GATA4 | c.617-37_617-35delinsCTG (n.617-37_617-35delinsCTG) c.617-34_617-32delinsCTG (n.617-34_617-32delinsCTG) c.-5-34_-5-32delinsCTG (n.-5-34_-5-32delinsCTG) c.614-37_614-35delinsCTG (n.614-37_614-35delinsCTG) c.-2-37_-2-35delinsCTG (n.-2-37_-2-35delinsCTG) | |
8 | g.11748883T>A | CA1764079555 | GATA4 | c.617-36T>A (n.617-36T>A) c.617-33T>A (n.617-33T>A) c.-5-33T>A (n.-5-33T>A) c.614-36T>A (n.614-36T>A) c.-2-36T>A (n.-2-36T>A) | dbSNP |
8 | g.11748883T>C | CA2686136892 | GATA4 | c.617-36T>C (n.617-36T>C) c.617-33T>C (n.617-33T>C) c.-5-33T>C (n.-5-33T>C) c.614-36T>C (n.614-36T>C) c.-2-36T>C (n.-2-36T>C) | gnomAD v4 |
8 | g.11748883T>G | CA4630648 | GATA4 | c.617-36T>G (n.617-36T>G) c.617-33T>G (n.617-33T>G) c.-5-33T>G (n.-5-33T>G) c.614-36T>G (n.614-36T>G) c.-2-36T>G (n.-2-36T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11748883T= | CA1764079553 | GATA4 | c.617-36T= (n.617-36T=) c.617-33T= (n.617-33T=) c.-5-33T= (n.-5-33T=) c.614-36T= (n.614-36T=) c.-2-36T= (n.-2-36T=) | |
8 | g.11748886_11748887del | CA4630647 | GATA4 | c.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 |
8 | g.11748884G>A | CA2716591765 | GATA4 | c.617-35G>A (n.617-35G>A) c.617-32G>A (n.617-32G>A) c.-5-32G>A (n.-5-32G>A) c.614-35G>A (n.614-35G>A) c.-2-35G>A (n.-2-35G>A) | dbSNP |
8 | g.11748887T>A | CA2686136896 | GATA4 | c.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 |
8 | g.11748889T>G | CA172113036 | GATA4 | c.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 |
8 | g.11748889T= | CA1764079557 | GATA4 | c.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=) | |
8 | g.11748890T>G | CA2686136897 | GATA4 | c.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 |
8 | g.11748891T>C | CA2686136898 | GATA4 | c.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 |
8 | g.11748891T>G | CA2686136899 | GATA4 | c.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 |
8 | g.11748892T>C | CA1110739180 | GATA4 | c.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 |
8 | g.11748892T= | CA1764079559 | GATA4 | c.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=) | |
8 | g.11748893C>A | CA4630649 | GATA4 | c.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 |
8 | g.11748893C= | CA1764079560 | GATA4 | c.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=) | |
8 | g.11748893C>T | CA1764079562 | GATA4 | c.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 |
8 | g.11748894T>G | CA1764079565 | GATA4 | c.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 |
8 | g.11748894T= | CA1764079564 | GATA4 | c.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=) | |
8 | g.11748895T>C | CA1764079568 | GATA4 | c.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 |
8 | g.11748895T= | CA1764079567 | GATA4 | c.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=) | |
8 | g.11748896G>A | CA4630650 | GATA4 | c.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 |
8 | g.11748896G>C | CA1764079573 | GATA4 | c.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 |
8 | g.11748896G= | CA1764079571 | GATA4 | c.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=) | |
8 | g.11748896G>T | CA2686136901 | GATA4 | c.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 |
8 | g.11748900G>A | CA2686136904 | GATA4 | c.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 |
8 | g.11748900G>T | CA2686136903 | GATA4 | c.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 |
8 | g.11748901T>C | CA172113050 | GATA4 | c.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 |
8 | g.11748901T= | CA1764079574 | GATA4 | c.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=) | |
8 | g.11748902_11748904delinsTCC | CA1764079575 | GATA4 | c.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) | |
8 | g.11748903C= | CA1764079577 | GATA4 | c.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=) | |
8 | g.11748903C>G | CA580031724 | GATA4 | c.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 |
8 | g.11748903C>T | CA4630651 | GATA4 | c.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 |
8 | g.11748907_11748908del | CA1764079578 | GATA4 | c.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 |
8 | g.11748904C>A | CA4630652 | GATA4 | c.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 |
8 | g.11748904C= | CA1764079582 | GATA4 | c.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=) | |
8 | g.11748904C>T | CA4630653 | GATA4 | c.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 |
8 | g.11748905C>A | CA2686136912 | GATA4 | c.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 |
8 | g.11748905C>T | CA2686136913 | GATA4 | c.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 |
8 | g.11748906C>A | CA2686136915 | GATA4 | c.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 |
8 | g.11748906C>G | CA2686136916 | GATA4 | c.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 |
8 | g.11748907C>A | CA1764079588 | GATA4 | c.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 |
8 | g.11748907C= | CA1764079587 | GATA4 | c.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=) | |
8 | g.11748907C>T | CA2686136917 | GATA4 | c.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 |
8 | g.11748908C>A | CA2686136919 | GATA4 | c.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 |
8 | g.11748908C>G | CA2554352115 | GATA4 | c.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 |
8 | g.11748909A>T | CA2686136920 | GATA4 | c.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 |
8 | g.11748910A>C | CA2686136921 | GATA4 | c.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 |
8 | g.11748911C>A | CA4630655 | GATA4 | c.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 |
8 | g.11748911C= | CA1764079591 | GATA4 | c.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=) | |
8 | g.11748911C>T | CA4630654 | GATA4 | c.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 |
8 | g.11748914A= | CA1764079592 | GATA4 | c.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=) | |
8 | g.11748914A>C | CA370312502 | GATA4 | c.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) | |
8 | g.11748914A>G | CA370312503 | GATA4 | c.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 |
8 | g.11748914A>T | CA370312504 | GATA4 | c.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) | |
8 | g.11748915G>A | CA370312505 | GATA4 | c.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 |
8 | g.11748915G>C | CA370312506 | GATA4 | c.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) | |
8 | g.11748915G= | CA1764079594 | GATA4 | c.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=) | |
8 | g.11748915G>T | CA370312507 | GATA4 | c.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) | |
8 | g.11748916T>A | CA370312508 | GATA4 | c.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) | |
8 | g.11748916T>C | CA370312510 | GATA4 | c.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 |
8 | g.11748916T>G | CA370312509 | GATA4 | c.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 |
8 | g.11748916T= | CA1764079596 | GATA4 | c.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=) | |
8 | g.11748917A= | CA1764079599 | GATA4 | c.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=) | |
8 | g.11748917A>C | CA370312511 | GATA4 | c.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) | |
8 | g.11748917A>G | CA370312512 | GATA4 | c.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 |
8 | g.11748917A>T | CA370312513 | GATA4 | c.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) | |
8 | g.11748918G>A | CA370312514 | GATA4 | c.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 |
8 | g.11748918G>C | CA370312515 | GATA4 | c.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 |
8 | g.11748918G= | CA1764079601 | GATA4 | c.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=) | |
8 | g.11748918G>T | CA370312516 | GATA4 | c.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) | |
8 | g.11748919A>C | CA370312517 | GATA4 | c.617A>C (p.Asp206Ala) c.620A>C (p.Asp207Ala) c.-2A>C (n.-2A>C) c.614A>C (p.Asp205Ala) | |
8 | g.11748919A>G | CA370312518 | GATA4 | c.617A>G (p.Asp206Gly) c.620A>G (p.Asp207Gly) c.-2A>G (n.-2A>G) c.614A>G (p.Asp205Gly) | dbSNP |
8 | g.11748919A>T | CA370312519 | GATA4 | c.617A>T (p.Asp206Val) c.620A>T (p.Asp207Val) c.-2A>T (n.-2A>T) c.614A>T (p.Asp205Val) | |
8 | g.11748920T>A | CA370312520 | GATA4 | c.618T>A (p.Asp206Glu) c.621T>A (p.Asp207Glu) c.-1T>A (n.-1T>A) c.615T>A (p.Asp205Glu) | |
8 | g.11748920T>C | CA459310051 | GATA4 | c.618T>C (p.Asp206=) c.621T>C (p.Asp207=) c.-1T>C (n.-1T>C) c.615T>C (p.Asp205=) | gnomAD v4 |
8 | g.11748920T>G | CA370312521 | GATA4 | c.618T>G (p.Asp206Glu) c.621T>G (p.Asp207Glu) c.-1T>G (n.-1T>G) c.615T>G (p.Asp205Glu) | |
8 | g.11748921A>C | CA370312524 | GATA4 | c.619A>C (p.Met207Leu) c.622A>C (p.Met208Leu) c.1A>C (p.Met1Leu) c.616A>C (p.Met206Leu) | |
8 | g.11748921A>G | CA370312522 | GATA4 | c.619A>G (p.Met207Val) c.622A>G (p.Met208Val) c.1A>G (p.Met1Val) c.616A>G (p.Met206Val) | gnomAD v4 |
8 | g.11748921A>T | CA370312523 | GATA4 | c.619A>T (p.Met207Leu) c.622A>T (p.Met208Leu) c.1A>T (p.Met1Leu) c.616A>T (p.Met206Leu) | |
8 | g.11748922T>A | CA370312525 | GATA4 | c.620T>A (p.Met207Lys) c.623T>A (p.Met208Lys) c.2T>A (p.Met1Lys) c.617T>A (p.Met206Lys) | ClinVar dbSNP gnomAD v4 |
8 | g.11748922T>C | CA4630656 | GATA4 | c.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 |
8 | g.11748922T>G | CA370312526 | GATA4 | c.620T>G (p.Met207Arg) c.623T>G (p.Met208Arg) c.2T>G (p.Met1Arg) c.617T>G (p.Met206Arg) | |
8 | g.11748922T= | CA1764079604 | GATA4 | c.620T= (p.Met207=) c.623T= (p.Met208=) c.2T= (p.Met1=) c.617T= (p.Met206=) | |
8 | g.11748923G>A | CA370312527 | GATA4 | c.621G>A (p.Met207Ile) c.624G>A (p.Met208Ile) c.3G>A (p.Met1Ile) c.618G>A (p.Met206Ile) | gnomAD v4 |
8 | g.11748923G>C | CA370312528 | GATA4 | c.621G>C (p.Met207Ile) c.624G>C (p.Met208Ile) c.3G>C (p.Met1Ile) c.618G>C (p.Met206Ile) | |
8 | g.11748923G>T | CA370312529 | GATA4 | c.621G>T (p.Met207Ile) c.624G>T (p.Met208Ile) c.3G>T (p.Met1Ile) c.618G>T (p.Met206Ile) | |
8 | g.11748924T>A | CA370312530 | GATA4 | c.622T>A (p.Phe208Ile) c.625T>A (p.Phe209Ile) c.4T>A (p.Phe2Ile) c.619T>A (p.Phe207Ile) | |
8 | g.11748924T>C | CA370312531 | GATA4 | c.622T>C (p.Phe208Leu) c.625T>C (p.Phe209Leu) c.4T>C (p.Phe2Leu) c.619T>C (p.Phe207Leu) | |
8 | g.11748924T>G | CA370312532 | GATA4 | c.622T>G (p.Phe208Val) c.625T>G (p.Phe209Val) c.4T>G (p.Phe2Val) c.619T>G (p.Phe207Val) | |
8 | g.11748925T>A | CA370312533 | GATA4 | c.623T>A (p.Phe208Tyr) c.626T>A (p.Phe209Tyr) c.5T>A (p.Phe2Tyr) c.620T>A (p.Phe207Tyr) | |
8 | g.11748925T>C | CA370312534 | GATA4 | c.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 |
8 | g.11748925T>G | CA370312535 | GATA4 | c.623T>G (p.Phe208Cys) c.626T>G (p.Phe209Cys) c.5T>G (p.Phe2Cys) c.620T>G (p.Phe207Cys) | |
8 | g.11748925T= | CA1764079609 | GATA4 | c.623T= (p.Phe208=) c.626T= (p.Phe209=) c.5T= (p.Phe2=) c.620T= (p.Phe207=) | |
8 | g.11748926T>A | CA370312536 | GATA4 | c.624T>A (p.Phe208Leu) c.627T>A (p.Phe209Leu) c.6T>A (p.Phe2Leu) c.621T>A (p.Phe207Leu) | |
8 | g.11748926T>C | CA459310068 | GATA4 | c.624T>C (p.Phe208=) c.627T>C (p.Phe209=) c.6T>C (p.Phe2=) c.621T>C (p.Phe207=) | |
8 | g.11748926T>G | CA370312537 | GATA4 | c.624T>G (p.Phe208Leu) c.627T>G (p.Phe209Leu) c.6T>G (p.Phe2Leu) c.621T>G (p.Phe207Leu) | |
8 | g.11748927G>A | CA370312540 | GATA4 | c.625G>A (p.Asp209Asn) c.628G>A (p.Asp210Asn) c.7G>A (p.Asp3Asn) c.622G>A (p.Asp208Asn) | |
8 | g.11748927G>C | CA370312539 | GATA4 | c.625G>C (p.Asp209His) c.628G>C (p.Asp210His) c.7G>C (p.Asp3His) c.622G>C (p.Asp208His) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11748927G= | CA1764079613 | GATA4 | c.625G= (p.Asp209=) c.628G= (p.Asp210=) c.7G= (p.Asp3=) c.622G= (p.Asp208=) | |
8 | g.11748927G>T | CA370312538 | GATA4 | c.625G>T (p.Asp209Tyr) c.628G>T (p.Asp210Tyr) c.7G>T (p.Asp3Tyr) c.622G>T (p.Asp208Tyr) | |
8 | g.11748928A= | CA1764079615 | GATA4 | c.626A= (p.Asp209=) c.629A= (p.Asp210=) c.8A= (p.Asp3=) c.623A= (p.Asp208=) | |
8 | g.11748928A>C | CA370312541 | GATA4 | c.626A>C (p.Asp209Ala) c.629A>C (p.Asp210Ala) c.8A>C (p.Asp3Ala) c.623A>C (p.Asp208Ala) | |
8 | g.11748928A>G | CA370312542 | GATA4 | c.626A>G (p.Asp209Gly) c.629A>G (p.Asp210Gly) c.8A>G (p.Asp3Gly) c.623A>G (p.Asp208Gly) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11748928A>T | CA370312543 | GATA4 | c.626A>T (p.Asp209Val) c.629A>T (p.Asp210Val) c.8A>T (p.Asp3Val) c.623A>T (p.Asp208Val) | ClinVar gnomAD v4 |
8 | g.11748929C>A | CA370312544 | GATA4 | c.627C>A (p.Asp209Glu) c.630C>A (p.Asp210Glu) c.9C>A (p.Asp3Glu) c.624C>A (p.Asp208Glu) | |
8 | g.11748929C= | CA1764079620 | GATA4 | c.627C= (p.Asp209=) c.630C= (p.Asp210=) c.9C= (p.Asp3=) c.624C= (p.Asp208=) | |
8 | g.11748929C>G | CA370312545 | GATA4 | c.627C>G (p.Asp209Glu) c.630C>G (p.Asp210Glu) c.9C>G (p.Asp3Glu) c.624C>G (p.Asp208Glu) | |
8 | g.11748929C>T | CA4630657 | GATA4 | c.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 |
8 | g.11748930G>A | CA4630658 | GATA4 | c.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 |
8 | g.11748930G>C | CA370312546 | GATA4 | c.628G>C (p.Asp210His) c.631G>C (p.Asp211His) c.10G>C (p.Asp4His) c.625G>C (p.Asp209His) | |
8 | g.11748930G= | CA1764079626 | GATA4 | c.628G= (p.Asp210=) c.631G= (p.Asp211=) c.10G= (p.Asp4=) c.625G= (p.Asp209=) | |
8 | g.11748930G>T | CA10587660 | GATA4 | c.628G>T (p.Asp210Tyr) c.631G>T (p.Asp211Tyr) c.10G>T (p.Asp4Tyr) c.625G>T (p.Asp209Tyr) | ClinVar dbSNP gnomAD v4 |
8 | g.11748931A>C | CA370312547 | GATA4 | c.629A>C (p.Asp210Ala) c.632A>C (p.Asp211Ala) c.11A>C (p.Asp4Ala) c.626A>C (p.Asp209Ala) | |
8 | g.11748931A>G | CA370312548 | GATA4 | c.629A>G (p.Asp210Gly) c.632A>G (p.Asp211Gly) c.11A>G (p.Asp4Gly) c.626A>G (p.Asp209Gly) | gnomAD v3 gnomAD v4 |
8 | g.11748931A>T | CA370312549 | GATA4 | c.629A>T (p.Asp210Val) c.632A>T (p.Asp211Val) c.11A>T (p.Asp4Val) c.626A>T (p.Asp209Val) | |
8 | g.11748931_11748934delinsACTT | CA1764079634 | GATA4 | c.629_632delinsACTT (p.Asp210=) c.632_635delinsACTT (p.Asp211=) c.11_14delinsACTT (p.Asp4=) c.626_629delinsACTT (p.Asp209=) | |
8 | g.11748932C>A | CA370312550 | GATA4 | c.630C>A (p.Asp210Glu) c.633C>A (p.Asp211Glu) c.12C>A (p.Asp4Glu) c.627C>A (p.Asp209Glu) | |
8 | g.11748932C>G | CA370312551 | GATA4 | c.630C>G (p.Asp210Glu) c.633C>G (p.Asp211Glu) c.12C>G (p.Asp4Glu) c.627C>G (p.Asp209Glu) | |
8 | g.11748932C>T | CA459310079 | GATA4 | c.630C>T (p.Asp210=) c.633C>T (p.Asp211=) c.12C>T (p.Asp4=) c.627C>T (p.Asp209=) | |
8 | g.11748934_11748936del | CA580031725 | GATA4 | c.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 |
8 | g.11748933T>A | CA370312553 | GATA4 | c.631T>A (p.Phe211Ile) c.634T>A (p.Phe212Ile) c.13T>A (p.Phe5Ile) c.628T>A (p.Phe210Ile) | |
8 | g.11748933T>C | CA370312554 | GATA4 | c.631T>C (p.Phe211Leu) c.634T>C (p.Phe212Leu) c.13T>C (p.Phe5Leu) c.628T>C (p.Phe210Leu) | |
8 | g.11748933T>G | CA370312552 | GATA4 | c.631T>G (p.Phe211Val) c.634T>G (p.Phe212Val) c.13T>G (p.Phe5Val) c.628T>G (p.Phe210Val) | |
8 | g.11748934T>A | CA370312555 | GATA4 | c.632T>A (p.Phe211Tyr) c.635T>A (p.Phe212Tyr) c.14T>A (p.Phe5Tyr) c.629T>A (p.Phe210Tyr) | |
8 | g.11748934T>C | CA370312556 | GATA4 | c.632T>C (p.Phe211Ser) c.635T>C (p.Phe212Ser) c.14T>C (p.Phe5Ser) c.629T>C (p.Phe210Ser) | |
8 | g.11748934T>G | CA370312557 | GATA4 | c.632T>G (p.Phe211Cys) c.635T>G (p.Phe212Cys) c.14T>G (p.Phe5Cys) c.629T>G (p.Phe210Cys) | |
8 | g.11748935C>A | CA370312558 | GATA4 | c.633C>A (p.Phe211Leu) c.636C>A (p.Phe212Leu) c.15C>A (p.Phe5Leu) c.630C>A (p.Phe210Leu) | |
8 | g.11748935C>G | CA370312559 | GATA4 | c.633C>G (p.Phe211Leu) c.636C>G (p.Phe212Leu) c.15C>G (p.Phe5Leu) c.630C>G (p.Phe210Leu) | |
8 | g.11748935C>T | CA459310092 | GATA4 | c.633C>T (p.Phe211=) c.636C>T (p.Phe212=) c.15C>T (p.Phe5=) c.630C>T (p.Phe210=) | |
8 | g.11748936T>A | CA370312562 | GATA4 | c.634T>A (p.Ser212Thr) c.637T>A (p.Ser213Thr) c.16T>A (p.Ser6Thr) c.631T>A (p.Ser211Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11748936T>C | CA370312561 | GATA4 | c.634T>C (p.Ser212Pro) c.637T>C (p.Ser213Pro) c.16T>C (p.Ser6Pro) c.631T>C (p.Ser211Pro) | |
8 | g.11748936T>G | CA370312560 | GATA4 | c.634T>G (p.Ser212Ala) c.637T>G (p.Ser213Ala) c.16T>G (p.Ser6Ala) c.631T>G (p.Ser211Ala) | |
8 | g.11748936T= | CA1764079640 | GATA4 | c.634T= (p.Ser212=) c.637T= (p.Ser213=) c.16T= (p.Ser6=) c.631T= (p.Ser211=) | |
8 | g.11748937C>A | CA370312563 | GATA4 | c.635C>A (p.Ser212Ter) c.638C>A (p.Ser213Ter) c.17C>A (p.Ser6Ter) c.632C>A (p.Ser211Ter) | |
8 | g.11748937C= | CA1764079642 | GATA4 | c.635C= (p.Ser212=) c.638C= (p.Ser213=) c.17C= (p.Ser6=) c.632C= (p.Ser211=) | |
8 | g.11748937C>G | CA370312564 | GATA4 | c.635C>G (p.Ser212Ter) c.638C>G (p.Ser213Ter) c.17C>G (p.Ser6Ter) c.632C>G (p.Ser211Ter) | |
8 | g.11748937C>T | CA370312565 | GATA4 | c.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 |
8 | g.11748938A>C | CA459310100 | GATA4 | c.636A>C (p.Ser212=) c.639A>C (p.Ser213=) c.18A>C (p.Ser6=) c.633A>C (p.Ser211=) | ClinVar |
8 | g.11748938A>G | CA459310102 | GATA4 | c.636A>G (p.Ser212=) c.639A>G (p.Ser213=) c.18A>G (p.Ser6=) c.633A>G (p.Ser211=) | gnomAD v4 |
8 | g.11748938A>T | CA459310103 | GATA4 | c.636A>T (p.Ser212=) c.639A>T (p.Ser213=) c.18A>T (p.Ser6=) c.633A>T (p.Ser211=) | |
8 | g.11748939G>A | CA370312566 | GATA4 | c.637G>A (p.Glu213Lys) c.640G>A (p.Glu214Lys) c.19G>A (p.Glu7Lys) c.634G>A (p.Glu212Lys) | |
8 | g.11748939G>C | CA172113107 | GATA4 | c.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 |
8 | g.11748939G= | CA1764079644 | GATA4 | c.637G= (p.Glu213=) c.640G= (p.Glu214=) c.19G= (p.Glu7=) c.634G= (p.Glu212=) | |
8 | g.11748939G>T | CA370312567 | GATA4 | c.637G>T (p.Glu213Ter) c.640G>T (p.Glu214Ter) c.19G>T (p.Glu7Ter) c.634G>T (p.Glu212Ter) | |
8 | g.11748940A>C | CA370312568 | GATA4 | c.638A>C (p.Glu213Ala) c.641A>C (p.Glu214Ala) c.20A>C (p.Glu7Ala) c.635A>C (p.Glu212Ala) | gnomAD v4 |
8 | g.11748940A>G | CA370312570 | GATA4 | c.638A>G (p.Glu213Gly) c.641A>G (p.Glu214Gly) c.20A>G (p.Glu7Gly) c.635A>G (p.Glu212Gly) | |
8 | g.11748940A>T | CA370312569 | GATA4 | c.638A>T (p.Glu213Val) c.641A>T (p.Glu214Val) c.20A>T (p.Glu7Val) c.635A>T (p.Glu212Val) | |
8 | g.11748941A>C | CA370312571 | GATA4 | c.639A>C (p.Glu213Asp) c.642A>C (p.Glu214Asp) c.21A>C (p.Glu7Asp) c.636A>C (p.Glu212Asp) | |
8 | g.11748941A>G | CA459310109 | GATA4 | c.639A>G (p.Glu213=) c.642A>G (p.Glu214=) c.21A>G (p.Glu7=) c.636A>G (p.Glu212=) | gnomAD v4 |
8 | g.11748941A>T | CA370312572 | GATA4 | c.639A>T (p.Glu213Asp) c.642A>T (p.Glu214Asp) c.21A>T (p.Glu7Asp) c.636A>T (p.Glu212Asp) | |
8 | g.11748942G>A | CA370312573 | GATA4 | c.640G>A (p.Gly214Ser) c.643G>A (p.Gly215Ser) c.22G>A (p.Gly8Ser) c.637G>A (p.Gly213Ser) | dbSNP |
8 | g.11748942G>C | CA370312574 | GATA4 | c.640G>C (p.Gly214Arg) c.643G>C (p.Gly215Arg) c.22G>C (p.Gly8Arg) c.637G>C (p.Gly213Arg) | |
8 | g.11748942G= | CA1764079646 | GATA4 | c.640G= (p.Gly214=) c.643G= (p.Gly215=) c.22G= (p.Gly8=) c.637G= (p.Gly213=) | |
8 | g.11748942G>T | CA370312575 | GATA4 | c.640G>T (p.Gly214Cys) c.643G>T (p.Gly215Cys) c.22G>T (p.Gly8Cys) c.637G>T (p.Gly213Cys) | |
8 | g.11748943G>A | CA370312576 | GATA4 | c.641G>A (p.Gly214Asp) c.644G>A (p.Gly215Asp) c.23G>A (p.Gly8Asp) c.638G>A (p.Gly213Asp) | |
8 | g.11748943G>C | CA370312577 | GATA4 | c.641G>C (p.Gly214Ala) c.644G>C (p.Gly215Ala) c.23G>C (p.Gly8Ala) c.638G>C (p.Gly213Ala) | |
8 | g.11748943G>T | CA370312578 | GATA4 | c.641G>T (p.Gly214Val) c.644G>T (p.Gly215Val) c.23G>T (p.Gly8Val) c.638G>T (p.Gly213Val) | |
8 | g.11748944C>A | CA459310119 | GATA4 | c.642C>A (p.Gly214=) c.645C>A (p.Gly215=) c.24C>A (p.Gly8=) c.639C>A (p.Gly213=) | |
8 | g.11748944C= | CA1764079650 | GATA4 | c.642C= (p.Gly214=) c.645C= (p.Gly215=) c.24C= (p.Gly8=) c.639C= (p.Gly213=) | |
8 | g.11748944C>G | CA459310120 | GATA4 | c.642C>G (p.Gly214=) c.645C>G (p.Gly215=) c.24C>G (p.Gly8=) c.639C>G (p.Gly213=) | |
8 | g.11748944C>T | CA459310122 | GATA4 | c.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 |
8 | g.11748945A>C | CA459310125 | GATA4 | c.643A>C (p.Arg215=) c.646A>C (p.Arg216=) c.25A>C (p.Arg9=) c.640A>C (p.Arg214=) | |
8 | g.11748945A>G | CA370312579 | GATA4 | c.643A>G (p.Arg215Gly) c.646A>G (p.Arg216Gly) c.25A>G (p.Arg9Gly) c.640A>G (p.Arg214Gly) | |
8 | g.11748945A>T | CA370312580 | GATA4 | c.643A>T (p.Arg215Ter) c.646A>T (p.Arg216Ter) c.25A>T (p.Arg9Ter) c.640A>T (p.Arg214Ter) | |
8 | g.11748946G>A | CA370312581 | GATA4 | c.644G>A (p.Arg215Lys) c.647G>A (p.Arg216Lys) c.26G>A (p.Arg9Lys) c.641G>A (p.Arg214Lys) | gnomAD v4 |
8 | g.11748946G>C | CA370312583 | GATA4 | c.644G>C (p.Arg215Thr) c.647G>C (p.Arg216Thr) c.26G>C (p.Arg9Thr) c.641G>C (p.Arg214Thr) | |
8 | g.11748946G>T | CA370312582 | GATA4 | c.644G>T (p.Arg215Ile) c.647G>T (p.Arg216Ile) c.26G>T (p.Arg9Ile) c.641G>T (p.Arg214Ile) | |
8 | g.11748947A>C | CA370312584 | GATA4 | c.645A>C (p.Arg215Ser) c.648A>C (p.Arg216Ser) c.27A>C (p.Arg9Ser) c.642A>C (p.Arg214Ser) | |
8 | g.11748947A>G | CA459310131 | GATA4 | c.645A>G (p.Arg215=) c.648A>G (p.Arg216=) c.27A>G (p.Arg9=) c.642A>G (p.Arg214=) | |
8 | g.11748947A>T | CA370312585 | GATA4 | c.645A>T (p.Arg215Ser) c.648A>T (p.Arg216Ser) c.27A>T (p.Arg9Ser) c.642A>T (p.Arg214Ser) | |
8 | g.11748948G>A | CA370312586 | GATA4 | c.646G>A (p.Glu216Lys) c.649G>A (p.Glu217Lys) c.28G>A (p.Glu10Lys) c.643G>A (p.Glu215Lys) | |
8 | g.11748948G>C | CA370312588 | GATA4 | c.646G>C (p.Glu216Gln) c.649G>C (p.Glu217Gln) c.28G>C (p.Glu10Gln) c.643G>C (p.Glu215Gln) | COSMIC |
8 | g.11748948G>T | CA370312587 | GATA4 | c.646G>T (p.Glu216Ter) c.649G>T (p.Glu217Ter) c.28G>T (p.Glu10Ter) c.643G>T (p.Glu215Ter) | |
8 | g.11748949A>C | CA370312589 | GATA4 | c.647A>C (p.Glu216Ala) c.650A>C (p.Glu217Ala) c.29A>C (p.Glu10Ala) c.644A>C (p.Glu215Ala) | |
8 | g.11748949A>G | CA370312590 | GATA4 | c.647A>G (p.Glu216Gly) c.650A>G (p.Glu217Gly) c.29A>G (p.Glu10Gly) c.644A>G (p.Glu215Gly) | |
8 | g.11748949A>T | CA370312591 | GATA4 | c.647A>T (p.Glu216Val) c.650A>T (p.Glu217Val) c.29A>T (p.Glu10Val) c.644A>T (p.Glu215Val) | |
8 | g.11748950G>A | CA4630659 | GATA4 | c.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 |
8 | g.11748950G>C | CA370312592 | GATA4 | c.648G>C (p.Glu216Asp) c.651G>C (p.Glu217Asp) c.30G>C (p.Glu10Asp) c.645G>C (p.Glu215Asp) | ClinVar |
8 | g.11748950G= | CA1764079653 | GATA4 | c.648G= (p.Glu216=) c.651G= (p.Glu217=) c.30G= (p.Glu10=) c.645G= (p.Glu215=) | |
8 | g.11748950G>T | CA370312593 | GATA4 | c.648G>T (p.Glu216Asp) c.651G>T (p.Glu217Asp) c.30G>T (p.Glu10Asp) c.645G>T (p.Glu215Asp) | |
8 | g.11748954_11748955del | CA2739280075 | GATA4 | c.652_653del (p.Val218GlnfsTer?) c.655_656del (p.Val219GlnfsTer?) c.34_35del (p.Val12GlnfsTer?) c.649_650del (p.Val217GlnfsTer?) | ClinVar |
8 | g.11748951T>A | CA370312594 | GATA4 | c.649T>A (p.Cys217Ser) c.652T>A (p.Cys218Ser) c.31T>A (p.Cys11Ser) c.646T>A (p.Cys216Ser) | |
8 | g.11748951T>C | CA370312595 | GATA4 | c.649T>C (p.Cys217Arg) c.652T>C (p.Cys218Arg) c.31T>C (p.Cys11Arg) c.646T>C (p.Cys216Arg) | |
8 | g.11748951T>G | CA370312596 | GATA4 | c.649T>G (p.Cys217Gly) c.652T>G (p.Cys218Gly) c.31T>G (p.Cys11Gly) c.646T>G (p.Cys216Gly) | |
8 | g.11748952G>A | CA370312599 | GATA4 | c.650G>A (p.Cys217Tyr) c.653G>A (p.Cys218Tyr) c.32G>A (p.Cys11Tyr) c.647G>A (p.Cys216Tyr) | |
8 | g.11748952G>C | CA370312598 | GATA4 | c.650G>C (p.Cys217Ser) c.653G>C (p.Cys218Ser) c.32G>C (p.Cys11Ser) c.647G>C (p.Cys216Ser) | |
8 | g.11748952G>T | CA370312597 | GATA4 | c.650G>T (p.Cys217Phe) c.653G>T (p.Cys218Phe) c.32G>T (p.Cys11Phe) c.647G>T (p.Cys216Phe) | |
8 | g.11748953T>A | CA370312600 | GATA4 | c.651T>A (p.Cys217Ter) c.654T>A (p.Cys218Ter) c.33T>A (p.Cys11Ter) c.648T>A (p.Cys216Ter) | |
8 | g.11748953T>C | CA459310147 | GATA4 | c.651T>C (p.Cys217=) c.654T>C (p.Cys218=) c.33T>C (p.Cys11=) c.648T>C (p.Cys216=) | |
8 | g.11748953T>G | CA370312601 | GATA4 | c.651T>G (p.Cys217Trp) c.654T>G (p.Cys218Trp) c.33T>G (p.Cys11Trp) c.648T>G (p.Cys216Trp) | |
8 | g.11748954G>A | CA370312602 | GATA4 | c.652G>A (p.Val218Ile) c.655G>A (p.Val219Ile) c.34G>A (p.Val12Ile) c.649G>A (p.Val217Ile) | |
8 | g.11748954G>C | CA370312603 | GATA4 | c.652G>C (p.Val218Leu) c.655G>C (p.Val219Leu) c.34G>C (p.Val12Leu) c.649G>C (p.Val217Leu) | |
8 | g.11748954G>T | CA370312604 | GATA4 | c.652G>T (p.Val218Phe) c.655G>T (p.Val219Phe) c.34G>T (p.Val12Phe) c.649G>T (p.Val217Phe) | |
8 | g.11748955T>A | CA370312605 | GATA4 | c.653T>A (p.Val218Asp) c.656T>A (p.Val219Asp) c.35T>A (p.Val12Asp) c.650T>A (p.Val217Asp) | |
8 | g.11748955T>C | CA370312606 | GATA4 | c.653T>C (p.Val218Ala) c.656T>C (p.Val219Ala) c.35T>C (p.Val12Ala) c.650T>C (p.Val217Ala) | |
8 | g.11748955T>G | CA370312607 | GATA4 | c.653T>G (p.Val218Gly) c.656T>G (p.Val219Gly) c.35T>G (p.Val12Gly) c.650T>G (p.Val217Gly) | |
8 | g.11748956C>A | CA459310154 | GATA4 | c.654C>A (p.Val218=) c.657C>A (p.Val219=) c.36C>A (p.Val12=) c.651C>A (p.Val217=) | |
8 | g.11748956C= | CA1764079656 | GATA4 | c.654C= (p.Val218=) c.657C= (p.Val219=) c.36C= (p.Val12=) c.651C= (p.Val217=) | |
8 | g.11748956C>G | CA459310155 | GATA4 | c.654C>G (p.Val218=) c.657C>G (p.Val219=) c.36C>G (p.Val12=) c.651C>G (p.Val217=) | dbSNP |
8 | g.11748956C>T | CA459310157 | GATA4 | c.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 |
8 | g.11748957A>C | CA370312608 | GATA4 | c.655A>C (p.Asn219His) c.658A>C (p.Asn220His) c.37A>C (p.Asn13His) c.652A>C (p.Asn218His) | |
8 | g.11748957A>G | CA370312609 | GATA4 | c.655A>G (p.Asn219Asp) c.658A>G (p.Asn220Asp) c.37A>G (p.Asn13Asp) c.652A>G (p.Asn218Asp) | |
8 | g.11748957A>T | CA370312610 | GATA4 | c.655A>T (p.Asn219Tyr) c.658A>T (p.Asn220Tyr) c.37A>T (p.Asn13Tyr) c.652A>T (p.Asn218Tyr) | |
8 | g.11748958A>C | CA370312612 | GATA4 | c.656A>C (p.Asn219Thr) c.659A>C (p.Asn220Thr) c.38A>C (p.Asn13Thr) c.653A>C (p.Asn218Thr) | |
8 | g.11748958A>G | CA370312613 | GATA4 | c.656A>G (p.Asn219Ser) c.659A>G (p.Asn220Ser) c.38A>G (p.Asn13Ser) c.653A>G (p.Asn218Ser) | ClinVar dbSNP COSMIC |
8 | g.11748958A>T | CA370312611 | GATA4 | c.656A>T (p.Asn219Ile) c.659A>T (p.Asn220Ile) c.38A>T (p.Asn13Ile) c.653A>T (p.Asn218Ile) | |
8 | g.11748959C>A | CA370312614 | GATA4 | c.657C>A (p.Asn219Lys) c.660C>A (p.Asn220Lys) c.39C>A (p.Asn13Lys) c.654C>A (p.Asn218Lys) | |
8 | g.11748959C>G | CA370312615 | GATA4 | c.657C>G (p.Asn219Lys) c.660C>G (p.Asn220Lys) c.39C>G (p.Asn13Lys) c.654C>G (p.Asn218Lys) | |
8 | g.11748959C>T | CA459310164 | GATA4 | c.657C>T (p.Asn219=) c.660C>T (p.Asn220=) c.39C>T (p.Asn13=) c.654C>T (p.Asn218=) | |
8 | g.11748960T>A | CA370312616 | GATA4 | c.658T>A (p.Cys220Ser) c.661T>A (p.Cys221Ser) c.40T>A (p.Cys14Ser) c.655T>A (p.Cys219Ser) | |
8 | g.11748960T>C | CA370312617 | GATA4 | c.658T>C (p.Cys220Arg) c.661T>C (p.Cys221Arg) c.40T>C (p.Cys14Arg) c.655T>C (p.Cys219Arg) | |
8 | g.11748960T>G | CA370312618 | GATA4 | c.658T>G (p.Cys220Gly) c.661T>G (p.Cys221Gly) c.40T>G (p.Cys14Gly) c.655T>G (p.Cys219Gly) | |
8 | g.11748961G>A | CA370312621 | GATA4 | c.659G>A (p.Cys220Tyr) c.662G>A (p.Cys221Tyr) c.41G>A (p.Cys14Tyr) c.656G>A (p.Cys219Tyr) | |
8 | g.11748961G>C | CA370312619 | GATA4 | c.659G>C (p.Cys220Ser) c.662G>C (p.Cys221Ser) c.41G>C (p.Cys14Ser) c.656G>C (p.Cys219Ser) | |
8 | g.11748961G>T | CA370312620 | GATA4 | c.659G>T (p.Cys220Phe) c.662G>T (p.Cys221Phe) c.41G>T (p.Cys14Phe) c.656G>T (p.Cys219Phe) | |
8 | g.11748962T>A | CA370312622 | GATA4 | c.660T>A (p.Cys220Ter) c.663T>A (p.Cys221Ter) c.42T>A (p.Cys14Ter) c.657T>A (p.Cys219Ter) | |
8 | g.11748962T>C | CA459310171 | GATA4 | c.660T>C (p.Cys220=) c.663T>C (p.Cys221=) c.42T>C (p.Cys14=) c.657T>C (p.Cys219=) | gnomAD v4 |
8 | g.11748962T>G | CA370312623 | GATA4 | c.660T>G (p.Cys220Trp) c.663T>G (p.Cys221Trp) c.42T>G (p.Cys14Trp) c.657T>G (p.Cys219Trp) | |
8 | g.11748963G>A | CA210836 | GATA4 | c.661G>A (p.Gly221Arg) c.664G>A (p.Gly222Arg) c.43G>A (p.Gly15Arg) c.658G>A (p.Gly220Arg) | ClinVar dbSNP |
8 | g.11748963G>C | CA370312624 | GATA4 | c.661G>C (p.Gly221Arg) c.664G>C (p.Gly222Arg) c.43G>C (p.Gly15Arg) c.658G>C (p.Gly220Arg) | |
8 | g.11748963G= | CA1764079660 | GATA4 | c.661G= (p.Gly221=) c.664G= (p.Gly222=) c.43G= (p.Gly15=) c.658G= (p.Gly220=) | |
8 | g.11748963G>T | CA370312625 | GATA4 | c.661G>T (p.Gly221Trp) c.664G>T (p.Gly222Trp) c.43G>T (p.Gly15Trp) c.658G>T (p.Gly220Trp) | COSMIC |
8 | g.11748964G>A | CA370312626 | GATA4 | c.662G>A (p.Gly221Glu) c.665G>A (p.Gly222Glu) c.44G>A (p.Gly15Glu) c.659G>A (p.Gly220Glu) | |
8 | g.11748964G>C | CA370312628 | GATA4 | c.662G>C (p.Gly221Ala) c.665G>C (p.Gly222Ala) c.44G>C (p.Gly15Ala) c.659G>C (p.Gly220Ala) | |
8 | g.11748964G>T | CA370312627 | GATA4 | c.662G>T (p.Gly221Val) c.665G>T (p.Gly222Val) c.44G>T (p.Gly15Val) c.659G>T (p.Gly220Val) | |
8 | g.11748965G>A | CA459310178 | GATA4 | c.663G>A (p.Gly221=) c.666G>A (p.Gly222=) c.45G>A (p.Gly15=) c.660G>A (p.Gly220=) | dbSNP |
8 | g.11748965G>C | CA459310180 | GATA4 | c.663G>C (p.Gly221=) c.666G>C (p.Gly222=) c.45G>C (p.Gly15=) c.660G>C (p.Gly220=) | |
8 | g.11748965G= | CA1764079663 | GATA4 | c.663G= (p.Gly221=) c.666G= (p.Gly222=) c.45G= (p.Gly15=) c.660G= (p.Gly220=) | |
8 | g.11748965G>T | CA459310181 | GATA4 | c.663G>T (p.Gly221=) c.666G>T (p.Gly222=) c.45G>T (p.Gly15=) c.660G>T (p.Gly220=) | |
8 | g.11748966G>A | CA370312629 | GATA4 | c.664G>A (p.Ala222Thr) c.667G>A (p.Ala223Thr) c.46G>A (p.Ala16Thr) c.661G>A (p.Ala221Thr) | ClinVar dbSNP gnomAD v4 |
8 | g.11748966G>C | CA370312630 | GATA4 | c.664G>C (p.Ala222Pro) c.667G>C (p.Ala223Pro) c.46G>C (p.Ala16Pro) c.661G>C (p.Ala221Pro) | |
8 | g.11748966G= | CA1764079666 | GATA4 | c.664G= (p.Ala222=) c.667G= (p.Ala223=) c.46G= (p.Ala16=) c.661G= (p.Ala221=) | |
8 | g.11748966G>T | CA370312631 | GATA4 | c.664G>T (p.Ala222Ser) c.667G>T (p.Ala223Ser) c.46G>T (p.Ala16Ser) c.661G>T (p.Ala221Ser) |