| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131861604A>C | CA365668893 | ENPP1 | c.925A>C (p.Thr309Pro) c.542A>C c.416A>C | |
| 6 | g.131861604A>G | CA365668895 | ENPP1 | c.925A>G (p.Thr309Ala) c.542A>G c.416A>G | |
| 6 | g.131861604A>T | CA365668898 | ENPP1 | c.925A>T (p.Thr309Ser) c.542A>T c.416A>T | |
| 6 | g.131861605C>A | CA365668902 | ENPP1 | c.926C>A (p.Thr309Lys) c.543C>A c.417C>A | |
| 6 | g.131861605C>G | CA365668904 | ENPP1 | c.926C>G (p.Thr309Arg) c.543C>G c.417C>G | |
| 6 | g.131861605C>T | CA365668905 | ENPP1 | c.926C>T (p.Thr309Ile) c.543C>T c.417C>T | |
| 6 | g.131861606A>C | CA452155535 | ENPP1 | c.927A>C (p.Thr309=) c.544A>C c.418A>C | |
| 6 | g.131861606A>G | CA452155536 | ENPP1 | c.927A>G (p.Thr309=) c.544A>G c.418A>G | |
| 6 | g.131861606A>T | CA452155537 | ENPP1 | c.927A>T (p.Thr309=) c.544A>T c.418A>T | |
| 6 | g.131861607G>A | CA365668923 | ENPP1 | c.928G>A (p.Ala310Thr) c.545G>A c.419G>A | |
| 6 | g.131861607G>C | CA365668908 | ENPP1 | c.928G>C (p.Ala310Pro) c.545G>C c.419G>C | |
| 6 | g.131861607G>T | CA365668906 | ENPP1 | c.928G>T (p.Ala310Ser) c.545G>T c.419G>T | |
| 6 | g.131861608C>A | CA365668929 | ENPP1 | c.929C>A (p.Ala310Asp) c.546C>A c.420C>A | |
| 6 | g.131861608C>G | CA365668934 | ENPP1 | c.929C>G (p.Ala310Gly) c.546C>G c.420C>G | |
| 6 | g.131861608C>T | CA365668936 | ENPP1 | c.929C>T (p.Ala310Val) c.546C>T c.420C>T | COSMIC |
| 6 | g.131861609T>A | CA452155540 | ENPP1 | c.930T>A (p.Ala310=) c.547T>A c.421T>A | |
| 6 | g.131861609T>C | CA452155538 | ENPP1 | c.930T>C (p.Ala310=) c.547T>C c.421T>C | |
| 6 | g.131861609T>G | CA452155539 | ENPP1 | c.930T>G (p.Ala310=) c.547T>G c.421T>G | |
| 6 | g.131861610A= | CA1664260137 | ENPP1 | c.931A= (p.Lys311=) c.548A= c.422A= n.1A= | |
| 6 | g.131861610A>C | CA365668941 | ENPP1 | c.931A>C (p.Lys311Gln) c.548A>C c.422A>C n.1A>C | |
| 6 | g.131861610A>G | CA4002054 | ENPP1 | c.931A>G (p.Lys311Glu) c.548A>G c.422A>G n.1A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131861610A>T | CA365668948 | ENPP1 | c.931A>T (p.Lys311Ter) c.548A>T c.422A>T n.1A>T | |
| 6 | g.131861611del | CA645550960 | ENPP1 | c.932del (p.Lys311SerfsTer?) c.549del c.423del n.2del | COSMIC COSMIC |
| 6 | g.131861611A>C | CA365668963 | ENPP1 | c.932A>C (p.Lys311Thr) c.549A>C c.423A>C n.2A>C | |
| 6 | g.131861611A>G | CA365668951 | ENPP1 | c.932A>G (p.Lys311Arg) c.549A>G c.423A>G n.2A>G | |
| 6 | g.131861611A>T | CA365668955 | ENPP1 | c.932A>T (p.Lys311Met) c.549A>T c.423A>T n.2A>T | |
| 6 | g.131861612G>A | CA452155541 | ENPP1 | c.933G>A (p.Lys311=) c.550G>A c.424G>A n.3G>A | |
| 6 | g.131861612G>C | CA365668972 | ENPP1 | c.933G>C (p.Lys311Asn) c.550G>C c.424G>C n.3G>C | gnomAD v4 |
| 6 | g.131861612G>T | CA365668981 | ENPP1 | c.933G>T (p.Lys311Asn) c.550G>T c.424G>T n.3G>T | |
| 6 | g.131861613T>A | CA365668985 | ENPP1 | c.934T>A (p.Tyr312Asn) c.551T>A c.425T>A n.4T>A | |
| 6 | g.131861613T>C | CA365668990 | ENPP1 | c.934T>C (p.Tyr312His) c.551T>C c.425T>C n.4T>C | ClinVar gnomAD v4 |
| 6 | g.131861613T>G | CA365668992 | ENPP1 | c.934T>G (p.Tyr312Asp) c.551T>G c.425T>G n.4T>G | |
| 6 | g.131861614A= | CA1664260141 | ENPP1 | c.935A= (p.Tyr312=) c.552A= c.426A= n.5A= | |
| 6 | g.131861614A>C | CA365668996 | ENPP1 | c.935A>C (p.Tyr312Ser) c.552A>C c.426A>C n.5A>C | |
| 6 | g.131861614A>G | CA4002055 | ENPP1 | c.935A>G (p.Tyr312Cys) c.552A>G c.426A>G n.5A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131861614A>T | CA365669003 | ENPP1 | c.935A>T (p.Tyr312Phe) c.552A>T c.426A>T n.5A>T | |
| 6 | g.131861615T>A | CA365669011 | ENPP1 | c.936T>A (p.Tyr312Ter) c.553T>A c.427T>A n.6T>A | |
| 6 | g.131861615T>C | CA452155542 | ENPP1 | c.936T>C (p.Tyr312=) c.553T>C c.427T>C n.6T>C | |
| 6 | g.131861615T>G | CA147934890 | ENPP1 | c.936T>G (p.Tyr312Ter) c.553T>G c.427T>G n.6T>G | dbSNP gnomAD v4 |
| 6 | g.131861615T= | CA1664260145 | ENPP1 | c.936T= (p.Tyr312=) c.553T= c.427T= n.6T= | |
| 6 | g.131861616C>A | CA365669018 | ENPP1 | c.937C>A (p.Gln313Lys) c.554C>A c.428C>A n.7C>A | |
| 6 | g.131861616C= | CA1664260153 | ENPP1 | c.937C= (p.Gln313=) c.554C= c.428C= n.7C= | |
| 6 | g.131861616C>G | CA365669020 | ENPP1 | c.937C>G (p.Gln313Glu) c.554C>G c.428C>G n.7C>G | |
| 6 | g.131861616C>T | CA365669023 | ENPP1 | c.937C>T (p.Gln313Ter) c.554C>T c.428C>T n.7C>T | ClinVar dbSNP COSMIC COSMIC |
| 6 | g.131861617A>C | CA365669028 | ENPP1 | c.938A>C (p.Gln313Pro) c.555A>C c.429A>C n.8A>C | |
| 6 | g.131861617A>G | CA365669031 | ENPP1 | c.938A>G (p.Gln313Arg) c.555A>G c.429A>G n.8A>G | |
| 6 | g.131861617A>T | CA365669035 | ENPP1 | c.938A>T (p.Gln313Leu) c.555A>T c.429A>T n.8A>T | |
| 6 | g.131861618del | CA2713039874 | ENPP1 | c.939del (p.Gly314AlafsTer?) c.556del c.430del n.9del | dbSNP |
| 6 | g.131861618A= | CA1664260160 | ENPP1 | c.939A= (p.Gln313=) c.556A= c.430A= n.9A= | |
| 6 | g.131861618A>C | CA4002056 | ENPP1 | c.939A>C (p.Gln313His) c.556A>C c.430A>C n.9A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |