| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11748984T>A | CA347951 | GATA4 | c.682T>A (p.Trp228Arg) c.685T>A (p.Trp229Arg) c.64T>A (p.Trp22Arg) c.679T>A (p.Trp227Arg) | ClinVar dbSNP |
| 8 | g.11748984T>C | CA370312666 | GATA4 | c.682T>C (p.Trp228Arg) c.685T>C (p.Trp229Arg) c.64T>C (p.Trp22Arg) c.679T>C (p.Trp227Arg) | |
| 8 | g.11748984T>G | CA370312667 | GATA4 | c.682T>G (p.Trp228Gly) c.685T>G (p.Trp229Gly) c.64T>G (p.Trp22Gly) c.679T>G (p.Trp227Gly) | |
| 8 | g.11748984T= | CA1764079690 | GATA4 | c.682T= (p.Trp228=) c.685T= (p.Trp229=) c.64T= (p.Trp22=) c.679T= (p.Trp227=) | |
| 8 | g.11748985G>A | CA370312669 | GATA4 | c.683G>A (p.Trp228Ter) c.686G>A (p.Trp229Ter) c.65G>A (p.Trp22Ter) c.680G>A (p.Trp227Ter) | |
| 8 | g.11748985G>C | CA370312670 | GATA4 | c.683G>C (p.Trp228Ser) c.686G>C (p.Trp229Ser) c.65G>C (p.Trp22Ser) c.680G>C (p.Trp227Ser) | |
| 8 | g.11748985G>T | CA370312668 | GATA4 | c.683G>T (p.Trp228Leu) c.686G>T (p.Trp229Leu) c.65G>T (p.Trp22Leu) c.680G>T (p.Trp227Leu) | |
| 8 | g.11748986G>A | CA370312671 | GATA4 | c.684G>A (p.Trp228Ter) c.687G>A (p.Trp229Ter) c.66G>A (p.Trp22Ter) c.681G>A (p.Trp227Ter) | |
| 8 | g.11748986G>C | CA370312672 | GATA4 | c.684G>C (p.Trp228Cys) c.687G>C (p.Trp229Cys) c.66G>C (p.Trp22Cys) c.681G>C (p.Trp227Cys) | ClinVar dbSNP |
| 8 | g.11748986G= | CA1764079698 | GATA4 | c.684G= (p.Trp228=) c.687G= (p.Trp229=) c.66G= (p.Trp22=) c.681G= (p.Trp227=) | |
| 8 | g.11748986G>T | CA370312673 | GATA4 | c.684G>T (p.Trp228Cys) c.687G>T (p.Trp229Cys) c.66G>T (p.Trp22Cys) c.681G>T (p.Trp227Cys) | |
| 8 | g.11748987A>C | CA459310248 | GATA4 | c.685A>C (p.Arg229=) c.688A>C (p.Arg230=) c.67A>C (p.Arg23=) c.682A>C (p.Arg228=) | gnomAD v4 |
| 8 | g.11748987A>G | CA370312674 | GATA4 | c.685A>G (p.Arg229Gly) c.688A>G (p.Arg230Gly) c.67A>G (p.Arg23Gly) c.682A>G (p.Arg228Gly) | |
| 8 | g.11748987A>T | CA370312675 | GATA4 | c.685A>T (p.Arg229Trp) c.688A>T (p.Arg230Trp) c.67A>T (p.Arg23Trp) c.682A>T (p.Arg228Trp) | |
| 8 | g.11748988G>A | CA370312676 | GATA4 | c.686G>A (p.Arg229Lys) c.689G>A (p.Arg230Lys) c.68G>A (p.Arg23Lys) c.683G>A (p.Arg228Lys) | |
| 8 | g.11748988G>C | CA370312677 | GATA4 | c.686G>C (p.Arg229Thr) c.689G>C (p.Arg230Thr) c.68G>C (p.Arg23Thr) c.683G>C (p.Arg228Thr) | |
| 8 | g.11748988G>T | CA370312678 | GATA4 | c.686G>T (p.Arg229Met) c.689G>T (p.Arg230Met) c.68G>T (p.Arg23Met) c.683G>T (p.Arg228Met) | |
| 8 | g.11748989G>A | CA459310254 | GATA4 | c.687G>A (p.Arg229=) c.690G>A (p.Arg230=) c.69G>A (p.Arg23=) c.684G>A (p.Arg228=) | |
| 8 | g.11748989G>C | CA370312679 | GATA4 | c.687G>C (p.Arg229Ser) c.690G>C (p.Arg230Ser) c.69G>C (p.Arg23Ser) c.684G>C (p.Arg228Ser) | |
| 8 | g.11748989G>T | CA370312680 | GATA4 | c.687G>T (p.Arg229Ser) c.690G>T (p.Arg230Ser) c.69G>T (p.Arg23Ser) c.684G>T (p.Arg228Ser) | |
| 8 | g.11748990C>A | CA459310258 | GATA4 | c.688C>A (p.Arg230=) c.691C>A (p.Arg231=) c.70C>A (p.Arg24=) c.685C>A (p.Arg229=) | |
| 8 | g.11748990C>G | CA370312681 | GATA4 | c.688C>G (p.Arg230Gly) c.691C>G (p.Arg231Gly) c.70C>G (p.Arg24Gly) c.685C>G (p.Arg229Gly) | |
| 8 | g.11748990C>T | CA370312682 | GATA4 | c.688C>T (p.Arg230Ter) c.691C>T (p.Arg231Ter) c.70C>T (p.Arg24Ter) c.685C>T (p.Arg229Ter) | ClinVar dbSNP COSMIC |
| 8 | g.11748991G>A | CA370312684 | GATA4 | c.689G>A (p.Arg230Gln) c.692G>A (p.Arg231Gln) c.71G>A (p.Arg24Gln) c.686G>A (p.Arg229Gln) | ClinVar COSMIC |
| 8 | g.11748991G>C | CA370312685 | GATA4 | c.689G>C (p.Arg230Pro) c.692G>C (p.Arg231Pro) c.71G>C (p.Arg24Pro) c.686G>C (p.Arg229Pro) | |
| 8 | g.11748991G>T | CA370312683 | GATA4 | c.689G>T (p.Arg230Leu) c.692G>T (p.Arg231Leu) c.71G>T (p.Arg24Leu) c.686G>T (p.Arg229Leu) | |
| 8 | g.11748992A= | CA1764079703 | GATA4 | c.690A= (p.Arg230=) c.693A= (p.Arg231=) c.72A= (p.Arg24=) c.687A= (p.Arg229=) | |
| 8 | g.11748992A>C | CA459310264 | GATA4 | c.690A>C (p.Arg230=) c.693A>C (p.Arg231=) c.72A>C (p.Arg24=) c.687A>C (p.Arg229=) | |
| 8 | g.11748992A>G | CA459310265 | GATA4 | c.690A>G (p.Arg230=) c.693A>G (p.Arg231=) c.72A>G (p.Arg24=) c.687A>G (p.Arg229=) | |
| 8 | g.11748992A>T | CA459310267 | GATA4 | c.690A>T (p.Arg230=) c.693A>T (p.Arg231=) c.72A>T (p.Arg24=) c.687A>T (p.Arg229=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11748993G>A | CA370312686 | GATA4 | c.691G>A (p.Asp231Asn) c.694G>A (p.Asp232Asn) c.73G>A (p.Asp25Asn) c.688G>A (p.Asp230Asn) | |
| 8 | g.11748993G>C | CA370312687 | GATA4 | c.691G>C (p.Asp231His) c.694G>C (p.Asp232His) c.73G>C (p.Asp25His) c.688G>C (p.Asp230His) | |
| 8 | g.11748993G>T | CA370312688 | GATA4 | c.691G>T (p.Asp231Tyr) c.694G>T (p.Asp232Tyr) c.73G>T (p.Asp25Tyr) c.688G>T (p.Asp230Tyr) | COSMIC |
| 8 | g.11748994A>C | CA370312689 | GATA4 | c.692A>C (p.Asp231Ala) c.695A>C (p.Asp232Ala) c.74A>C (p.Asp25Ala) c.689A>C (p.Asp230Ala) | |
| 8 | g.11748994A>G | CA370312690 | GATA4 | c.692A>G (p.Asp231Gly) c.695A>G (p.Asp232Gly) c.74A>G (p.Asp25Gly) c.689A>G (p.Asp230Gly) | |
| 8 | g.11748994A>T | CA370312691 | GATA4 | c.692A>T (p.Asp231Val) c.695A>T (p.Asp232Val) c.74A>T (p.Asp25Val) c.689A>T (p.Asp230Val) | |
| 8 | g.11748995T>A | CA370312693 | GATA4 | c.693T>A (p.Asp231Glu) c.696T>A (p.Asp232Glu) c.75T>A (p.Asp25Glu) c.690T>A (p.Asp230Glu) | |
| 8 | g.11748995T>C | CA459310273 | GATA4 | c.693T>C (p.Asp231=) c.696T>C (p.Asp232=) c.75T>C (p.Asp25=) c.690T>C (p.Asp230=) | |
| 8 | g.11748995T>G | CA370312692 | GATA4 | c.693T>G (p.Asp231Glu) c.696T>G (p.Asp232Glu) c.75T>G (p.Asp25Glu) c.690T>G (p.Asp230Glu) | |
| 8 | g.11748996G>A | CA370312694 | GATA4 | c.694G>A (p.Gly232Arg) c.697G>A (p.Gly233Arg) c.76G>A (p.Gly26Arg) c.691G>A (p.Gly231Arg) | |
| 8 | g.11748996G>C | CA370312695 | GATA4 | c.694G>C (p.Gly232Arg) c.697G>C (p.Gly233Arg) c.76G>C (p.Gly26Arg) c.691G>C (p.Gly231Arg) | |
| 8 | g.11748996G>T | CA370312696 | GATA4 | c.694G>T (p.Gly232Trp) c.697G>T (p.Gly233Trp) c.76G>T (p.Gly26Trp) c.691G>T (p.Gly231Trp) | |
| 8 | g.11748997G>A | CA370312697 | GATA4 | c.695G>A (p.Gly232Glu) c.698G>A (p.Gly233Glu) c.77G>A (p.Gly26Glu) c.692G>A (p.Gly231Glu) | |
| 8 | g.11748997G>C | CA370312698 | GATA4 | c.695G>C (p.Gly232Ala) c.698G>C (p.Gly233Ala) c.77G>C (p.Gly26Ala) c.692G>C (p.Gly231Ala) | |
| 8 | g.11748997G>T | CA370312699 | GATA4 | c.695G>T (p.Gly232Val) c.698G>T (p.Gly233Val) c.77G>T (p.Gly26Val) c.692G>T (p.Gly231Val) | |
| 8 | g.11748998G>A | CA459310282 | GATA4 | c.696G>A (p.Gly232=) c.699G>A (p.Gly233=) c.78G>A (p.Gly26=) c.693G>A (p.Gly231=) | |
| 8 | g.11748998G>C | CA459310281 | GATA4 | c.696G>C (p.Gly232=) c.699G>C (p.Gly233=) c.78G>C (p.Gly26=) c.693G>C (p.Gly231=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.11748998G>T | CA459310279 | GATA4 | c.696G>T (p.Gly232=) c.699G>T (p.Gly233=) c.78G>T (p.Gly26=) c.693G>T (p.Gly231=) | |
| 8 | g.11748999A= | CA1764079706 | GATA4 | c.697A= (p.Thr233=) c.700A= (p.Thr234=) c.79A= (p.Thr27=) c.694A= (p.Thr232=) | |
| 8 | g.11748999A>C | CA370312702 | GATA4 | c.697A>C (p.Thr233Pro) c.700A>C (p.Thr234Pro) c.79A>C (p.Thr27Pro) c.694A>C (p.Thr232Pro) |