| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 10 | g.30313845T>A | CA376434607 | MTPAP | c.1513A>T (p.Ser505Cys) n.3268A>T | |
| 10 | g.30313845T>C | CA376434608 | MTPAP | c.1513A>G (p.Ser505Gly) n.3268A>G | |
| 10 | g.30313845T>G | CA376434609 | MTPAP | c.1513A>C (p.Ser505Arg) n.3268A>C | |
| 10 | g.30313846T>A | CA376434610 | MTPAP | c.1512A>T (p.Glu504Asp) n.3267A>T | |
| 10 | g.30313846T>C | CA468798704 | MTPAP | c.1512A>G (p.Glu504=) n.3267A>G | |
| 10 | g.30313846T>G | CA376434611 | MTPAP | c.1512A>C (p.Glu504Asp) n.3267A>C | |
| 10 | g.30313847T>A | CA376434613 | MTPAP | c.1511A>T (p.Glu504Val) n.3266A>T | |
| 10 | g.30313847T>C | CA5458934 | MTPAP | c.1511A>G (p.Glu504Gly) n.3266A>G | dbSNP ExAC gnomAD v2 |
| 10 | g.30313847T>G | CA376434612 | MTPAP | c.1511A>C (p.Glu504Ala) n.3266A>C | gnomAD v4 |
| 10 | g.30313847T= | CA1899314019 | MTPAP | c.1511A= (p.Glu504=) n.3266A= | |
| 10 | g.30313848C>A | CA376434614 | MTPAP | c.1510G>T (p.Glu504Ter) n.3265G>T | |
| 10 | g.30313848C>G | CA376434615 | MTPAP | c.1510G>C (p.Glu504Gln) n.3265G>C | |
| 10 | g.30313848C>T | CA376434616 | MTPAP | c.1510G>A (p.Glu504Lys) n.3265G>A | |
| 10 | g.30313849T>A | CA468798705 | MTPAP | c.1509A>T (p.Arg503=) n.3264A>T | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.30313849T>C | CA468798706 | MTPAP | c.1509A>G (p.Arg503=) n.3264A>G | |
| 10 | g.30313849T>G | CA468798707 | MTPAP | c.1509A>C (p.Arg503=) n.3264A>C | |
| 10 | g.30313849T= | CA1899314020 | MTPAP | c.1509A= (p.Arg503=) n.3264A= | |
| 10 | g.30313850C>A | CA205300991 | MTPAP | c.1508G>T (p.Arg503Leu) n.3263G>T | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.30313850C= | CA1899314021 | MTPAP | c.1508G= (p.Arg503=) n.3263G= | |
| 10 | g.30313850C>G | CA376434617 | MTPAP | c.1508G>C (p.Arg503Pro) n.3263G>C | |
| 10 | g.30313850C>T | CA5458935 | MTPAP | c.1508G>A (p.Arg503Gln) n.3263G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |