| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11757066A= | CA1764072560 | GATA4 | c.1129A= (p.Ser377=) c.1132A= (p.Ser378=) n.574A= c.511A= (p.Ser171=) c.1126A= (p.Ser376=) c.385A= (p.Ser129=) | |
| 8 | g.11757066A>C | CA370315477 | GATA4 | c.1129A>C (p.Ser377Arg) c.1132A>C (p.Ser378Arg) n.574A>C c.511A>C (p.Ser171Arg) c.1126A>C (p.Ser376Arg) c.385A>C (p.Ser129Arg) | |
| 8 | g.11757066A>G | CA133993 | GATA4 | c.1129A>G (p.Ser377Gly) c.1132A>G (p.Ser378Gly) n.574A>G c.511A>G (p.Ser171Gly) c.1126A>G (p.Ser376Gly) c.385A>G (p.Ser129Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11757066A>T | CA370315478 | GATA4 | c.1129A>T (p.Ser377Cys) c.1132A>T (p.Ser378Cys) n.574A>T c.511A>T (p.Ser171Cys) c.1126A>T (p.Ser376Cys) c.385A>T (p.Ser129Cys) | |
| 8 | g.11757067G>A | CA370315479 | GATA4 | c.1130G>A (p.Ser377Asn) c.1133G>A (p.Ser378Asn) n.575G>A c.512G>A (p.Ser171Asn) c.1127G>A (p.Ser376Asn) c.386G>A (p.Ser129Asn) | gnomAD v4 |
| 8 | g.11757067G>C | CA370315480 | GATA4 | c.1130G>C (p.Ser377Thr) c.1133G>C (p.Ser378Thr) n.575G>C c.512G>C (p.Ser171Thr) c.1127G>C (p.Ser376Thr) c.386G>C (p.Ser129Thr) | |
| 8 | g.11757067G>T | CA370315481 | GATA4 | c.1130G>T (p.Ser377Ile) c.1133G>T (p.Ser378Ile) n.575G>T c.512G>T (p.Ser171Ile) c.1127G>T (p.Ser376Ile) c.386G>T (p.Ser129Ile) | |
| 8 | g.11757068C>A | CA370315482 | GATA4 | c.1131C>A (p.Ser377Arg) c.1134C>A (p.Ser378Arg) n.576C>A c.513C>A (p.Ser171Arg) c.1128C>A (p.Ser376Arg) c.387C>A (p.Ser129Arg) | |
| 8 | g.11757068C= | CA1764072564 | GATA4 | c.1131C= (p.Ser377=) c.1134C= (p.Ser378=) n.576C= c.513C= (p.Ser171=) c.1128C= (p.Ser376=) c.387C= (p.Ser129=) | |
| 8 | g.11757068C>G | CA370315483 | GATA4 | c.1131C>G (p.Ser377Arg) c.1134C>G (p.Ser378Arg) n.576C>G c.513C>G (p.Ser171Arg) c.1128C>G (p.Ser376Arg) c.387C>G (p.Ser129Arg) | dbSNP gnomAD v4 |
| 8 | g.11757068C>T | CA459313726 | GATA4 | c.1131C>T (p.Ser377=) c.1134C>T (p.Ser378=) n.576C>T c.513C>T (p.Ser171=) c.1128C>T (p.Ser376=) c.387C>T (p.Ser129=) | |
| 8 | g.11757069A>C | CA370315484 | GATA4 | c.1132A>C (p.Ser378Arg) c.1135A>C (p.Ser379Arg) n.577A>C c.514A>C (p.Ser172Arg) c.1129A>C (p.Ser377Arg) c.388A>C (p.Ser130Arg) | |
| 8 | g.11757069A>G | CA370315485 | GATA4 | c.1132A>G (p.Ser378Gly) c.1135A>G (p.Ser379Gly) n.577A>G c.514A>G (p.Ser172Gly) c.1129A>G (p.Ser377Gly) c.388A>G (p.Ser130Gly) | |
| 8 | g.11757069A>T | CA370315486 | GATA4 | c.1132A>T (p.Ser378Cys) c.1135A>T (p.Ser379Cys) n.577A>T c.514A>T (p.Ser172Cys) c.1129A>T (p.Ser377Cys) c.388A>T (p.Ser130Cys) | |
| 8 | g.11757070G>A | CA370315487 | GATA4 | c.1133G>A (p.Ser378Asn) c.1136G>A (p.Ser379Asn) n.578G>A c.515G>A (p.Ser172Asn) c.1130G>A (p.Ser377Asn) c.389G>A (p.Ser130Asn) | |
| 8 | g.11757070G>C | CA370315488 | GATA4 | c.1133G>C (p.Ser378Thr) c.1136G>C (p.Ser379Thr) n.578G>C c.515G>C (p.Ser172Thr) c.1130G>C (p.Ser377Thr) c.389G>C (p.Ser130Thr) | |
| 8 | g.11757070G= | CA1764072567 | GATA4 | c.1133G= (p.Ser378=) c.1136G= (p.Ser379=) n.578G= c.515G= (p.Ser172=) c.1130G= (p.Ser377=) c.389G= (p.Ser130=) | |
| 8 | g.11757070G>T | CA10582554 | GATA4 | c.1133G>T (p.Ser378Ile) c.1136G>T (p.Ser379Ile) n.578G>T c.515G>T (p.Ser172Ile) c.1130G>T (p.Ser377Ile) c.389G>T (p.Ser130Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11757071C>A | CA370315489 | GATA4 | c.1134C>A (p.Ser378Arg) c.1137C>A (p.Ser379Arg) n.579C>A c.516C>A (p.Ser172Arg) c.1131C>A (p.Ser377Arg) c.390C>A (p.Ser130Arg) | |
| 8 | g.11757071C>G | CA370315490 | GATA4 | c.1134C>G (p.Ser378Arg) c.1137C>G (p.Ser379Arg) n.579C>G c.516C>G (p.Ser172Arg) c.1131C>G (p.Ser377Arg) c.390C>G (p.Ser130Arg) | |
| 8 | g.11757071C>T | CA459313728 | GATA4 | c.1134C>T (p.Ser378=) c.1137C>T (p.Ser379=) n.579C>T c.516C>T (p.Ser172=) c.1131C>T (p.Ser377=) c.390C>T (p.Ser130=) | |
| 8 | g.11757072T>A | CA370315491 | GATA4 | c.1135T>A (p.Ser379Thr) c.1138T>A (p.Ser380Thr) n.580T>A c.517T>A (p.Ser173Thr) c.1132T>A (p.Ser378Thr) c.391T>A (p.Ser131Thr) | |
| 8 | g.11757072T>C | CA370315492 | GATA4 | c.1135T>C (p.Ser379Pro) c.1138T>C (p.Ser380Pro) n.580T>C c.517T>C (p.Ser173Pro) c.1132T>C (p.Ser378Pro) c.391T>C (p.Ser131Pro) | |
| 8 | g.11757072T>G | CA370315493 | GATA4 | c.1135T>G (p.Ser379Ala) c.1138T>G (p.Ser380Ala) n.580T>G c.517T>G (p.Ser173Ala) c.1132T>G (p.Ser378Ala) c.391T>G (p.Ser131Ala) | |
| 8 | g.11757073C>A | CA370315494 | GATA4 | c.1136C>A (p.Ser379Tyr) c.1139C>A (p.Ser380Tyr) n.581C>A c.518C>A (p.Ser173Tyr) c.1133C>A (p.Ser378Tyr) c.392C>A (p.Ser131Tyr) | |
| 8 | g.11757073C= | CA1764072570 | GATA4 | c.1136C= (p.Ser379=) c.1139C= (p.Ser380=) n.581C= c.518C= (p.Ser173=) c.1133C= (p.Ser378=) c.392C= (p.Ser131=) | |
| 8 | g.11757073C>G | CA370315495 | GATA4 | c.1136C>G (p.Ser379Cys) c.1139C>G (p.Ser380Cys) n.581C>G c.518C>G (p.Ser173Cys) c.1133C>G (p.Ser378Cys) c.392C>G (p.Ser131Cys) | |
| 8 | g.11757073C>T | CA370315496 | GATA4 | c.1136C>T (p.Ser379Phe) c.1139C>T (p.Ser380Phe) n.581C>T c.518C>T (p.Ser173Phe) c.1133C>T (p.Ser378Phe) c.392C>T (p.Ser131Phe) | dbSNP |
| 8 | g.11757074C>A | CA459313731 | GATA4 | c.1137C>A (p.Ser379=) c.1140C>A (p.Ser380=) n.582C>A c.519C>A (p.Ser173=) c.1134C>A (p.Ser378=) c.393C>A (p.Ser131=) | |
| 8 | g.11757074C= | CA1764072575 | GATA4 | c.1137C= (p.Ser379=) c.1140C= (p.Ser380=) n.582C= c.519C= (p.Ser173=) c.1134C= (p.Ser378=) c.393C= (p.Ser131=) | |
| 8 | g.11757074C>G | CA459313730 | GATA4 | c.1137C>G (p.Ser379=) c.1140C>G (p.Ser380=) n.582C>G c.519C>G (p.Ser173=) c.1134C>G (p.Ser378=) c.393C>G (p.Ser131=) | |
| 8 | g.11757074C>T | CA4630838 | GATA4 | c.1137C>T (p.Ser379=) c.1140C>T (p.Ser380=) n.582C>T c.519C>T (p.Ser173=) c.1134C>T (p.Ser378=) c.393C>T (p.Ser131=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11757075G>A | CA4630839 | GATA4 | c.1138G>A (p.Val380Met) c.1141G>A (p.Val381Met) n.583G>A c.520G>A (p.Val174Met) c.1135G>A (p.Val379Met) c.394G>A (p.Val132Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11757075G>C | CA370315497 | GATA4 | c.1138G>C (p.Val380Leu) c.1141G>C (p.Val381Leu) n.583G>C c.520G>C (p.Val174Leu) c.1135G>C (p.Val379Leu) c.394G>C (p.Val132Leu) | |
| 8 | g.11757075G= | CA1764072579 | GATA4 | c.1138G= (p.Val380=) c.1141G= (p.Val381=) n.583G= c.520G= (p.Val174=) c.1135G= (p.Val379=) c.394G= (p.Val132=) | |
| 8 | g.11757075G>T | CA370315498 | GATA4 | c.1138G>T (p.Val380Leu) c.1141G>T (p.Val381Leu) n.583G>T c.520G>T (p.Val174Leu) c.1135G>T (p.Val379Leu) c.394G>T (p.Val132Leu) | |
| 8 | g.11757076T>A | CA370315501 | GATA4 | c.1139T>A (p.Val380Glu) c.1142T>A (p.Val381Glu) n.584T>A c.521T>A (p.Val174Glu) c.1136T>A (p.Val379Glu) c.395T>A (p.Val132Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11757076T>C | CA370315500 | GATA4 | c.1139T>C (p.Val380Ala) c.1142T>C (p.Val381Ala) n.584T>C c.521T>C (p.Val174Ala) c.1136T>C (p.Val379Ala) c.395T>C (p.Val132Ala) | |
| 8 | g.11757076T>G | CA370315499 | GATA4 | c.1139T>G (p.Val380Gly) c.1142T>G (p.Val381Gly) n.584T>G c.521T>G (p.Val174Gly) c.1136T>G (p.Val379Gly) c.395T>G (p.Val132Gly) | |
| 8 | g.11757076T= | CA1764072583 | GATA4 | c.1139T= (p.Val380=) c.1142T= (p.Val381=) n.584T= c.521T= (p.Val174=) c.1136T= (p.Val379=) c.395T= (p.Val132=) | |
| 8 | g.11757077G>A | CA459313733 | GATA4 | c.1140G>A (p.Val380=) c.1143G>A (p.Val381=) n.585G>A c.522G>A (p.Val174=) c.1137G>A (p.Val379=) c.396G>A (p.Val132=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.11757077G>C | CA459313734 | GATA4 | c.1140G>C (p.Val380=) c.1143G>C (p.Val381=) n.585G>C c.522G>C (p.Val174=) c.1137G>C (p.Val379=) c.396G>C (p.Val132=) | |
| 8 | g.11757077G= | CA1764072585 | GATA4 | c.1140G= (p.Val380=) c.1143G= (p.Val381=) n.585G= c.522G= (p.Val174=) c.1137G= (p.Val379=) c.396G= (p.Val132=) | |
| 8 | g.11757077G>T | CA459313735 | GATA4 | c.1140G>T (p.Val380=) c.1143G>T (p.Val381=) n.585G>T c.522G>T (p.Val174=) c.1137G>T (p.Val379=) c.396G>T (p.Val132=) | gnomAD v4 |
| 8 | g.11757078T>A | CA370315502 | GATA4 | c.1141T>A (p.Ser381Thr) c.1144T>A (p.Ser382Thr) n.586T>A c.523T>A (p.Ser175Thr) c.1138T>A (p.Ser380Thr) c.397T>A (p.Ser133Thr) | |
| 8 | g.11757078T>C | CA370315503 | GATA4 | c.1141T>C (p.Ser381Pro) c.1144T>C (p.Ser382Pro) n.586T>C c.523T>C (p.Ser175Pro) c.1138T>C (p.Ser380Pro) c.397T>C (p.Ser133Pro) | |
| 8 | g.11757078T>G | CA370315504 | GATA4 | c.1141T>G (p.Ser381Ala) c.1144T>G (p.Ser382Ala) n.586T>G c.523T>G (p.Ser175Ala) c.1138T>G (p.Ser380Ala) c.397T>G (p.Ser133Ala) | |
| 8 | g.11757079C>A | CA370315505 | GATA4 | c.1142C>A (p.Ser381Tyr) c.1145C>A (p.Ser382Tyr) n.587C>A c.524C>A (p.Ser175Tyr) c.1139C>A (p.Ser380Tyr) c.398C>A (p.Ser133Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.11757079C= | CA1764072591 | GATA4 | c.1142C= (p.Ser381=) c.1145C= (p.Ser382=) n.587C= c.524C= (p.Ser175=) c.1139C= (p.Ser380=) c.398C= (p.Ser133=) | |
| 8 | g.11757079C>G | CA4630840 | GATA4 | c.1142C>G (p.Ser381Cys) c.1145C>G (p.Ser382Cys) n.587C>G c.524C>G (p.Ser175Cys) c.1139C>G (p.Ser380Cys) c.398C>G (p.Ser133Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |