Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.30313829_30313831del | CA2574454113 | MTPAP | c.1530_1532del (p.Gln511del) n.3285_3287del | |
10 | g.30313830G>A | CA376434571 | MTPAP | c.1528C>T (p.Gln510Ter) n.3283C>T | |
10 | g.30313830G>C | CA376434572 | MTPAP | c.1528C>G (p.Gln510Glu) n.3283C>G | |
10 | g.30313830G= | CA1899314015 | MTPAP | c.1528C= (p.Gln510=) n.3283C= | |
10 | g.30313830G>T | CA376434573 | MTPAP | c.1528C>A (p.Gln510Lys) n.3283C>A | dbSNP |
10 | g.30313831T>A | CA376434574 | MTPAP | c.1527A>T (p.Leu509Phe) n.3282A>T | |
10 | g.30313831T>C | CA468798696 | MTPAP | c.1527A>G (p.Leu509=) n.3282A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313831T>G | CA376434575 | MTPAP | c.1527A>C (p.Leu509Phe) n.3282A>C | |
10 | g.30313831T= | CA1899314016 | MTPAP | c.1527A= (p.Leu509=) n.3282A= | |
10 | g.30313832A>C | CA376434576 | MTPAP | c.1526T>G (p.Leu509Ter) n.3281T>G | |
10 | g.30313832A>G | CA376434577 | MTPAP | c.1526T>C (p.Leu509Ser) n.3281T>C | |
10 | g.30313832A>T | CA376434578 | MTPAP | c.1526T>A (p.Leu509Ter) n.3281T>A | |
10 | g.30313833A>C | CA376434579 | MTPAP | c.1525T>G (p.Leu509Val) n.3280T>G | |
10 | g.30313833A>G | CA468798697 | MTPAP | c.1525T>C (p.Leu509=) n.3280T>C | |
10 | g.30313833A>T | CA376434580 | MTPAP | c.1525T>A (p.Leu509Ile) n.3280T>A | |
10 | g.30313834A>C | CA376434581 | MTPAP | c.1524T>G (p.Ile508Met) n.3279T>G | |
10 | g.30313834A>G | CA468798698 | MTPAP | c.1524T>C (p.Ile508=) n.3279T>C | |
10 | g.30313834A>T | CA468798699 | MTPAP | c.1524T>A (p.Ile508=) n.3279T>A | |
10 | g.30313835A>C | CA376434584 | MTPAP | c.1523T>G (p.Ile508Ser) n.3278T>G | |
10 | g.30313835A>G | CA376434583 | MTPAP | c.1523T>C (p.Ile508Thr) n.3278T>C | |
10 | g.30313835A>T | CA376434582 | MTPAP | c.1523T>A (p.Ile508Asn) n.3278T>A | |
10 | g.30313836T>A | CA376434585 | MTPAP | c.1522A>T (p.Ile508Phe) n.3277A>T | |
10 | g.30313836T>C | CA376434586 | MTPAP | c.1522A>G (p.Ile508Val) n.3277A>G | |
10 | g.30313836T>G | CA376434587 | MTPAP | c.1522A>C (p.Ile508Leu) n.3277A>C | |
10 | g.30313837C>A | CA376434588 | MTPAP | c.1521G>T (p.Trp507Cys) n.3276G>T | |
10 | g.30313837C>G | CA376434589 | MTPAP | c.1521G>C (p.Trp507Cys) n.3276G>C | |
10 | g.30313837C>T | CA376434590 | MTPAP | c.1521G>A (p.Trp507Ter) n.3276G>A | |
10 | g.30313838C>A | CA376434591 | MTPAP | c.1520G>T (p.Trp507Leu) n.3275G>T | |
10 | g.30313838C>G | CA376434592 | MTPAP | c.1520G>C (p.Trp507Ser) n.3275G>C | |
10 | g.30313838C>T | CA376434593 | MTPAP | c.1520G>A (p.Trp507Ter) n.3275G>A | |
10 | g.30313839A= | CA1899314017 | MTPAP | c.1519T= (p.Trp507=) n.3274T= | |
10 | g.30313839A>C | CA376434594 | MTPAP | c.1519T>G (p.Trp507Gly) n.3274T>G | |
10 | g.30313839A>G | CA376434595 | MTPAP | c.1519T>C (p.Trp507Arg) n.3274T>C | |
10 | g.30313839A>T | CA5458933 | MTPAP | c.1519T>A (p.Trp507Arg) n.3274T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313840G>A | CA468798700 | MTPAP | c.1518C>T (p.Ala506=) n.3273C>T | gnomAD v4 |
10 | g.30313840G>C | CA468798701 | MTPAP | c.1518C>G (p.Ala506=) n.3273C>G | |
10 | g.30313840G>T | CA468798702 | MTPAP | c.1518C>A (p.Ala506=) n.3273C>A | |
10 | g.30313841G>A | CA376434598 | MTPAP | c.1517C>T (p.Ala506Val) n.3272C>T | |
10 | g.30313841G>C | CA376434597 | MTPAP | c.1517C>G (p.Ala506Gly) n.3272C>G | |
10 | g.30313841G>T | CA376434596 | MTPAP | c.1517C>A (p.Ala506Asp) n.3272C>A | |
10 | g.30313842C>A | CA376434599 | MTPAP | c.1516G>T (p.Ala506Ser) n.3271G>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313842C= | CA1899314018 | MTPAP | c.1516G= (p.Ala506=) n.3271G= | |
10 | g.30313842C>G | CA376434600 | MTPAP | c.1516G>C (p.Ala506Pro) n.3271G>C | |
10 | g.30313842C>T | CA376434601 | MTPAP | c.1516G>A (p.Ala506Thr) n.3271G>A | |
10 | g.30313843A>C | CA376434602 | MTPAP | c.1515T>G (p.Ser505Arg) n.3270T>G | |
10 | g.30313843A>G | CA468798703 | MTPAP | c.1515T>C (p.Ser505=) n.3270T>C | |
10 | g.30313843A>T | CA376434603 | MTPAP | c.1515T>A (p.Ser505Arg) n.3270T>A | |
10 | g.30313844C>A | CA376434604 | MTPAP | c.1514G>T (p.Ser505Ile) n.3269G>T | |
10 | g.30313844C>G | CA376434605 | MTPAP | c.1514G>C (p.Ser505Thr) n.3269G>C | |
10 | g.30313844C>T | CA376434606 | MTPAP | c.1514G>A (p.Ser505Asn) n.3269G>A | gnomAD v4 |