| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 10 | g.30313851G>A | CA5458936 | MTPAP | c.1507C>T (p.Arg503Ter) n.3262C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.30313851G>C | CA376434618 | MTPAP | c.1507C>G (p.Arg503Gly) n.3262C>G | |
| 10 | g.30313851G= | CA1899314022 | MTPAP | c.1507C= (p.Arg503=) n.3262C= | |
| 10 | g.30313851G>T | CA468798708 | MTPAP | c.1507C>A (p.Arg503=) n.3262C>A | |
| 10 | g.30313852G>A | CA468798711 | MTPAP | c.1506C>T (p.Ala502=) n.3261C>T | dbSNP |
| 10 | g.30313852G>C | CA468798710 | MTPAP | c.1506C>G (p.Ala502=) n.3261C>G | |
| 10 | g.30313852G= | CA1899314023 | MTPAP | c.1506C= (p.Ala502=) n.3261C= | |
| 10 | g.30313852G>T | CA468798709 | MTPAP | c.1506C>A (p.Ala502=) n.3261C>A | |
| 10 | g.30313853G>A | CA205301019 | MTPAP | c.1505C>T (p.Ala502Val) n.3260C>T | dbSNP gnomAD v4 COSMIC COSMIC |
| 10 | g.30313853G>C | CA376434619 | MTPAP | c.1505C>G (p.Ala502Gly) n.3260C>G | |
| 10 | g.30313853G= | CA1899314024 | MTPAP | c.1505C= (p.Ala502=) n.3260C= | |
| 10 | g.30313853G>T | CA376434620 | MTPAP | c.1505C>A (p.Ala502Asp) n.3260C>A | |
| 10 | g.30313854C>A | CA5458937 | MTPAP | c.1504G>T (p.Ala502Ser) n.3259G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.30313854C= | CA1899314025 | MTPAP | c.1504G= (p.Ala502=) n.3259G= | |
| 10 | g.30313854C>G | CA376434622 | MTPAP | c.1504G>C (p.Ala502Pro) n.3259G>C | gnomAD v4 |
| 10 | g.30313854C>T | CA376434621 | MTPAP | c.1504G>A (p.Ala502Thr) n.3259G>A |