| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.84840372C>A | CA393374391 | ALPK3 | c.1093C>A (p.Gln365Lys) c.1699C>A (p.Gln567Lys) | ClinVar gnomAD v4 |
| 15 | g.84840372C= | CA2192368316 | ALPK3 | c.1093C= (p.Gln365=) c.1699C= (p.Gln567=) | |
| 15 | g.84840372C>G | CA393374392 | ALPK3 | c.1093C>G (p.Gln365Glu) c.1699C>G (p.Gln567Glu) | |
| 15 | g.84840372C>T | CA7709121 | ALPK3 | c.1093C>T (p.Gln365Ter) c.1699C>T (p.Gln567Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840373A>C | CA393374394 | ALPK3 | c.1094A>C (p.Gln365Pro) c.1700A>C (p.Gln567Pro) | |
| 15 | g.84840373A>G | CA393374396 | ALPK3 | c.1094A>G (p.Gln365Arg) c.1700A>G (p.Gln567Arg) | |
| 15 | g.84840373A>T | CA393374397 | ALPK3 | c.1094A>T (p.Gln365Leu) c.1700A>T (p.Gln567Leu) | |
| 15 | g.84840374G>A | CA492277644 | ALPK3 | c.1095G>A (p.Gln365=) c.1701G>A (p.Gln567=) | |
| 15 | g.84840374G>C | CA393374399 | ALPK3 | c.1095G>C (p.Gln365His) c.1701G>C (p.Gln567His) | |
| 15 | g.84840374G>T | CA393374400 | ALPK3 | c.1095G>T (p.Gln365His) c.1701G>T (p.Gln567His) | |
| 15 | g.84840375G>A | CA393374406 | ALPK3 | c.1096G>A (p.Val366Ile) c.1702G>A (p.Val568Ile) | |
| 15 | g.84840375G>C | CA393374404 | ALPK3 | c.1096G>C (p.Val366Leu) c.1702G>C (p.Val568Leu) | |
| 15 | g.84840375G>T | CA393374402 | ALPK3 | c.1096G>T (p.Val366Phe) c.1702G>T (p.Val568Phe) | ClinVar gnomAD v4 |
| 15 | g.84840376T>A | CA393374407 | ALPK3 | c.1097T>A (p.Val366Asp) c.1703T>A (p.Val568Asp) | |
| 15 | g.84840376T>C | CA393374411 | ALPK3 | c.1097T>C (p.Val366Ala) c.1703T>C (p.Val568Ala) | |
| 15 | g.84840376T>G | CA393374409 | ALPK3 | c.1097T>G (p.Val366Gly) c.1703T>G (p.Val568Gly) | |
| 15 | g.84840377T>A | CA492277653 | ALPK3 | c.1098T>A (p.Val366=) c.1704T>A (p.Val568=) | |
| 15 | g.84840377T>C | CA492277655 | ALPK3 | c.1098T>C (p.Val366=) c.1704T>C (p.Val568=) | |
| 15 | g.84840377T>G | CA492277657 | ALPK3 | c.1098T>G (p.Val366=) c.1704T>G (p.Val568=) | |
| 15 | g.84840378C>A | CA393374413 | ALPK3 | c.1099C>A (p.Gln367Lys) c.1705C>A (p.Gln569Lys) | |
| 15 | g.84840378C>G | CA393374415 | ALPK3 | c.1099C>G (p.Gln367Glu) c.1705C>G (p.Gln569Glu) | |
| 15 | g.84840378C>T | CA393374414 | ALPK3 | c.1099C>T (p.Gln367Ter) c.1705C>T (p.Gln569Ter) | |
| 15 | g.84840382_84840392del | CA2573050767 | ALPK3 | c.1103_1113del (p.Thr368ArgfsTer14) c.1709_1719del (p.Thr570ArgfsTer14) | ClinVar |
| 15 | g.84840379A>C | CA393374417 | ALPK3 | c.1100A>C (p.Gln367Pro) c.1706A>C (p.Gln569Pro) | |
| 15 | g.84840379A>G | CA393374419 | ALPK3 | c.1100A>G (p.Gln367Arg) c.1706A>G (p.Gln569Arg) | gnomAD v4 |
| 15 | g.84840379A>T | CA393374420 | ALPK3 | c.1100A>T (p.Gln367Leu) c.1706A>T (p.Gln569Leu) | |
| 15 | g.84840380G>A | CA492277664 | ALPK3 | c.1101G>A (p.Gln367=) c.1707G>A (p.Gln569=) | |
| 15 | g.84840380G>C | CA393374422 | ALPK3 | c.1101G>C (p.Gln367His) c.1707G>C (p.Gln569His) | |
| 15 | g.84840380G>T | CA393374424 | ALPK3 | c.1101G>T (p.Gln367His) c.1707G>T (p.Gln569His) | |
| 15 | g.84840381A>C | CA393374426 | ALPK3 | c.1102A>C (p.Thr368Pro) c.1708A>C (p.Thr570Pro) | |
| 15 | g.84840381A>G | CA393374427 | ALPK3 | c.1102A>G (p.Thr368Ala) c.1708A>G (p.Thr570Ala) | |
| 15 | g.84840381A>T | CA393374428 | ALPK3 | c.1102A>T (p.Thr368Ser) c.1708A>T (p.Thr570Ser) | |
| 15 | g.84840382C>A | CA393374430 | ALPK3 | c.1103C>A (p.Thr368Asn) c.1709C>A (p.Thr570Asn) | |
| 15 | g.84840382C>G | CA393374432 | ALPK3 | c.1103C>G (p.Thr368Ser) c.1709C>G (p.Thr570Ser) | |
| 15 | g.84840382C>T | CA393374434 | ALPK3 | c.1103C>T (p.Thr368Ile) c.1709C>T (p.Thr570Ile) | |
| 15 | g.84840383C>A | CA7709122 | ALPK3 | c.1104C>A (p.Thr368=) c.1710C>A (p.Thr570=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840383C= | CA2192368317 | ALPK3 | c.1104C= (p.Thr368=) c.1710C= (p.Thr570=) | |
| 15 | g.84840383C>G | CA492277670 | ALPK3 | c.1104C>G (p.Thr368=) c.1710C>G (p.Thr570=) | |
| 15 | g.84840383C>T | CA492277669 | ALPK3 | c.1104C>T (p.Thr368=) c.1710C>T (p.Thr570=) | |
| 15 | g.84840384C>A | CA393374440 | ALPK3 | c.1105C>A (p.Gln369Lys) c.1711C>A (p.Gln571Lys) | |
| 15 | g.84840384C>G | CA393374437 | ALPK3 | c.1105C>G (p.Gln369Glu) c.1711C>G (p.Gln571Glu) | |
| 15 | g.84840384C>T | CA393374439 | ALPK3 | c.1105C>T (p.Gln369Ter) c.1711C>T (p.Gln571Ter) | |
| 15 | g.84840385A>C | CA393374441 | ALPK3 | c.1106A>C (p.Gln369Pro) c.1712A>C (p.Gln571Pro) | |
| 15 | g.84840385A>G | CA393374442 | ALPK3 | c.1106A>G (p.Gln369Arg) c.1712A>G (p.Gln571Arg) | |
| 15 | g.84840385A>T | CA393374444 | ALPK3 | c.1106A>T (p.Gln369Leu) c.1712A>T (p.Gln571Leu) | |
| 15 | g.84840386G>A | CA492277679 | ALPK3 | c.1107G>A (p.Gln369=) c.1713G>A (p.Gln571=) | |
| 15 | g.84840386G>C | CA393374446 | ALPK3 | c.1107G>C (p.Gln369His) c.1713G>C (p.Gln571His) | |
| 15 | g.84840386G>T | CA393374448 | ALPK3 | c.1107G>T (p.Gln369His) c.1713G>T (p.Gln571His) | ClinVar |
| 15 | g.84840387C>A | CA393374449 | ALPK3 | c.1108C>A (p.Pro370Thr) c.1714C>A (p.Pro572Thr) | dbSNP |
| 15 | g.84840387C= | CA2192368318 | ALPK3 | c.1108C= (p.Pro370=) c.1714C= (p.Pro572=) |