Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.30313826T>A | CA376434562 | MTPAP | c.1532A>T (p.Gln511Leu) n.3287A>T | |
10 | g.30313826T>C | CA376434561 | MTPAP | c.1532A>G (p.Gln511Arg) n.3287A>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313826T>G | CA376434560 | MTPAP | c.1532A>C (p.Gln511Pro) n.3287A>C | |
10 | g.30313826T= | CA1899314012 | MTPAP | c.1532A= (p.Gln511=) n.3287A= | |
10 | g.30313829_30313831del | CA2574454113 | MTPAP | c.1530_1532del (p.Gln511del) n.3285_3287del | |
10 | g.30313827G>A | CA376434564 | MTPAP | c.1531C>T (p.Gln511Ter) n.3286C>T | gnomAD v4 |
10 | g.30313827G>C | CA376434563 | MTPAP | c.1531C>G (p.Gln511Glu) n.3286C>G | |
10 | g.30313827G>T | CA376434566 | MTPAP | c.1531C>A (p.Gln511Lys) n.3286C>A | gnomAD v4 |
10 | g.30313828T>A | CA376434567 | MTPAP | c.1530A>T (p.Gln510His) n.3285A>T | |
10 | g.30313828T>C | CA468798695 | MTPAP | c.1530A>G (p.Gln510=) n.3285A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313828T>G | CA376434568 | MTPAP | c.1530A>C (p.Gln510His) n.3285A>C | |
10 | g.30313828T= | CA1899314013 | MTPAP | c.1530A= (p.Gln510=) n.3285A= | |
10 | g.30313829T>A | CA376434569 | MTPAP | c.1529A>T (p.Gln510Leu) n.3284A>T | |
10 | g.30313829T>C | CA376434570 | MTPAP | c.1529A>G (p.Gln510Arg) n.3284A>G | |
10 | g.30313829T>G | CA5458932 | MTPAP | c.1529A>C (p.Gln510Pro) n.3284A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313829T= | CA1899314014 | MTPAP | c.1529A= (p.Gln510=) n.3284A= | |
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 |