Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.155140004C>A | CA342662644 | DPM3 | c.237G>T (p.Gln79His) c.327G>T (p.Gln109His) | |
1 | g.155140004C>G | CA342662646 | DPM3 | c.237G>C (p.Gln79His) c.327G>C (p.Gln109His) | |
1 | g.155140004C>T | CA420986602 | DPM3 | c.237G>A (p.Gln79=) c.327G>A (p.Gln109=) | COSMIC |
1 | g.155140005T>A | CA342662653 | DPM3 | c.236A>T (p.Gln79Leu) c.326A>T (p.Gln109Leu) | |
1 | g.155140005T>C | CA342662656 | DPM3 | c.236A>G (p.Gln79Arg) c.326A>G (p.Gln109Arg) | gnomAD v4 |
1 | g.155140005T>G | CA342662664 | DPM3 | c.236A>C (p.Gln79Pro) c.326A>C (p.Gln109Pro) | |
1 | g.155140006G>A | CA1138407 | DPM3 | c.235C>T (p.Gln79Ter) c.325C>T (p.Gln109Ter) | dbSNP ExAC gnomAD v2 |
1 | g.155140006G>C | CA342662671 | DPM3 | c.235C>G (p.Gln79Glu) c.325C>G (p.Gln109Glu) | |
1 | g.155140006G= | CA2481162100 | DPM3 | c.235C= (p.Gln79=) c.325C= (p.Gln109=) | |
1 | g.155140006G>T | CA342662688 | DPM3 | c.235C>A (p.Gln79Lys) c.325C>A (p.Gln109Lys) | |
1 | g.155140007T>A | CA420986617 | DPM3 | c.234A>T (p.Ile78=) c.324A>T (p.Ile108=) | |
1 | g.155140007T>C | CA342662694 | DPM3 | c.234A>G (p.Ile78Met) c.324A>G (p.Ile108Met) | gnomAD v4 |
1 | g.155140007T>G | CA420986615 | DPM3 | c.234A>C (p.Ile78=) c.324A>C (p.Ile108=) | |
1 | g.155140008A>C | CA342662702 | DPM3 | c.233T>G (p.Ile78Arg) c.323T>G (p.Ile108Arg) | |
1 | g.155140008A>G | CA342662707 | DPM3 | c.233T>C (p.Ile78Thr) c.323T>C (p.Ile108Thr) | |
1 | g.155140008A>T | CA342662709 | DPM3 | c.233T>A (p.Ile78Lys) c.323T>A (p.Ile108Lys) | |
1 | g.155140009T>A | CA342662718 | DPM3 | c.232A>T (p.Ile78Leu) c.322A>T (p.Ile108Leu) | |
1 | g.155140009T>C | CA1138408 | DPM3 | c.232A>G (p.Ile78Val) c.322A>G (p.Ile108Val) | dbSNP ExAC gnomAD v2 |
1 | g.155140009T>G | CA342662711 | DPM3 | c.232A>C (p.Ile78Leu) c.322A>C (p.Ile108Leu) | |
1 | g.155140009T= | CA1142044697 | DPM3 | c.232A= (p.Ile78=) c.322A= (p.Ile108=) | |
1 | g.155140011_155140036del | CA2648230183 | DPM3 | c.207_232del (p.Ala70ThrfsTer18) c.297_322del (p.Ala100ThrfsTer18) | gnomAD v4 |
1 | g.155140010C>A | CA342662729 | DPM3 | c.231G>T (p.Gln77His) c.321G>T (p.Gln107His) | |
1 | g.155140010C>G | CA342662733 | DPM3 | c.231G>C (p.Gln77His) c.321G>C (p.Gln107His) | |
1 | g.155140010C>T | CA420986628 | DPM3 | c.231G>A (p.Gln77=) c.321G>A (p.Gln107=) | |
1 | g.155140011T>A | CA342662735 | DPM3 | c.230A>T (p.Gln77Leu) c.320A>T (p.Gln107Leu) | |
1 | g.155140011T>C | CA342662737 | DPM3 | c.230A>G (p.Gln77Arg) c.320A>G (p.Gln107Arg) | gnomAD v4 |
1 | g.155140011T>G | CA342662740 | DPM3 | c.230A>C (p.Gln77Pro) c.320A>C (p.Gln107Pro) | |
1 | g.155140012G>A | CA342662751 | DPM3 | c.229C>T (p.Gln77Ter) c.319C>T (p.Gln107Ter) | ClinVar dbSNP |
1 | g.155140012G>C | CA342662744 | DPM3 | c.229C>G (p.Gln77Glu) c.319C>G (p.Gln107Glu) | |
1 | g.155140012G>T | CA342662747 | DPM3 | c.229C>A (p.Gln77Lys) c.319C>A (p.Gln107Lys) | gnomAD v4 |
1 | g.155140013G>A | CA420986632 | DPM3 | c.228C>T (p.Ser76=) c.318C>T (p.Ser106=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155140013G>C | CA342662758 | DPM3 | c.228C>G (p.Ser76Arg) c.318C>G (p.Ser106Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155140013G= | CA2481162101 | DPM3 | c.228C= (p.Ser76=) c.318C= (p.Ser106=) | |
1 | g.155140013G>T | CA342662769 | DPM3 | c.228C>A (p.Ser76Arg) c.318C>A (p.Ser106Arg) | gnomAD v4 |
1 | g.155140014C>A | CA342662777 | DPM3 | c.227G>T (p.Ser76Ile) c.317G>T (p.Ser106Ile) | |
1 | g.155140014C>G | CA342662783 | DPM3 | c.227G>C (p.Ser76Thr) c.317G>C (p.Ser106Thr) | |
1 | g.155140014C>T | CA342662787 | DPM3 | c.227G>A (p.Ser76Asn) c.317G>A (p.Ser106Asn) | |
1 | g.155140015T>A | CA342662788 | DPM3 | c.226A>T (p.Ser76Cys) c.316A>T (p.Ser106Cys) | |
1 | g.155140015T>C | CA342662794 | DPM3 | c.226A>G (p.Ser76Gly) c.316A>G (p.Ser106Gly) | |
1 | g.155140015T>G | CA342662789 | DPM3 | c.226A>C (p.Ser76Arg) c.316A>C (p.Ser106Arg) | |
1 | g.155140016C>A | CA342662795 | DPM3 | c.225G>T (p.Gln75His) c.315G>T (p.Gln105His) | |
1 | g.155140016C= | CA2481162102 | DPM3 | c.225G= (p.Gln75=) c.315G= (p.Gln105=) | |
1 | g.155140016C>G | CA342662796 | DPM3 | c.225G>C (p.Gln75His) c.315G>C (p.Gln105His) | |
1 | g.155140016C>T | CA420986651 | DPM3 | c.225G>A (p.Gln75=) c.315G>A (p.Gln105=) | COSMIC |
1 | g.155140017T>A | CA342662800 | DPM3 | c.224A>T (p.Gln75Leu) c.314A>T (p.Gln105Leu) | gnomAD v4 |
1 | g.155140017T>C | CA342662810 | DPM3 | c.224A>G (p.Gln75Arg) c.314A>G (p.Gln105Arg) | |
1 | g.155140017T>G | CA342662804 | DPM3 | c.224A>C (p.Gln75Pro) c.314A>C (p.Gln105Pro) | gnomAD v4 |
1 | g.155140017_155140020dup | CA889649446 | DPM3 | c.221_224dup (p.Gln75HisfsTer23) c.311_314dup (p.Gln105HisfsTer23) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155140018G>A | CA342662817 | DPM3 | c.223C>T (p.Gln75Ter) c.313C>T (p.Gln105Ter) | |
1 | g.155140018G>C | CA342662825 | DPM3 | c.223C>G (p.Gln75Glu) c.313C>G (p.Gln105Glu) |