| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41758715C>A | CA500023057 | JUP | c.1653G>T (p.Thr551=) n.251G>T c.1704G>T (p.Thr568=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41758715C= | CA2260170926 | JUP | c.1653G= (p.Thr551=) n.251G= c.1704G= (p.Thr568=) | |
| 17 | g.41758715C>G | CA8565173 | JUP | c.1653G>C (p.Thr551=) n.251G>C c.1704G>C (p.Thr568=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41758715C>T | CA500023058 | JUP | c.1653G>A (p.Thr551=) n.251G>A c.1704G>A (p.Thr568=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758716G>A | CA290696215 | JUP | c.1652C>T (p.Thr551Met) n.250C>T c.1703C>T (p.Thr568Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41758716G>C | CA399493434 | JUP | c.1652C>G (p.Thr551Arg) n.250C>G c.1703C>G (p.Thr568Arg) | |
| 17 | g.41758716G= | CA2260170927 | JUP | c.1652C= (p.Thr551=) n.250C= c.1703C= (p.Thr568=) | |
| 17 | g.41758716G>T | CA399493436 | JUP | c.1652C>A (p.Thr551Lys) n.250C>A c.1703C>A (p.Thr568Lys) | gnomAD v4 |
| 17 | g.41758717T>A | CA399493439 | JUP | c.1651A>T (p.Thr551Ser) n.249A>T c.1702A>T (p.Thr568Ser) | |
| 17 | g.41758717T>C | CA399493442 | JUP | c.1651A>G (p.Thr551Ala) n.249A>G c.1702A>G (p.Thr568Ala) | |
| 17 | g.41758717T>G | CA399493444 | JUP | c.1651A>C (p.Thr551Pro) n.249A>C c.1702A>C (p.Thr568Pro) | gnomAD v4 |
| 17 | g.41758718G>A | CA500023059 | JUP | c.1650C>T (p.Tyr550=) n.248C>T c.1701C>T (p.Tyr567=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758718G>C | CA399493446 | JUP | c.1650C>G (p.Tyr550Ter) n.248C>G c.1701C>G (p.Tyr567Ter) | |
| 17 | g.41758718G= | CA2260170928 | JUP | c.1650C= (p.Tyr550=) n.248C= c.1701C= (p.Tyr567=) | |
| 17 | g.41758718G>T | CA399493448 | JUP | c.1650C>A (p.Tyr550Ter) n.248C>A c.1701C>A (p.Tyr567Ter) | |
| 17 | g.41758719T>A | CA399493451 | JUP | c.1649A>T (p.Tyr550Phe) n.247A>T c.1700A>T (p.Tyr567Phe) | |
| 17 | g.41758719T>C | CA290696216 | JUP | c.1649A>G (p.Tyr550Cys) n.247A>G c.1700A>G (p.Tyr567Cys) | dbSNP |
| 17 | g.41758719T>G | CA399493454 | JUP | c.1649A>C (p.Tyr550Ser) n.247A>C c.1700A>C (p.Tyr567Ser) | |
| 17 | g.41758719T= | CA2260170929 | JUP | c.1649A= (p.Tyr550=) n.247A= c.1700A= (p.Tyr567=) | |
| 17 | g.41758720A>C | CA399493461 | JUP | c.1648T>G (p.Tyr550Asp) n.246T>G c.1699T>G (p.Tyr567Asp) | |
| 17 | g.41758720A>G | CA399493458 | JUP | c.1648T>C (p.Tyr550His) n.246T>C c.1699T>C (p.Tyr567His) | |
| 17 | g.41758720A>T | CA399493456 | JUP | c.1648T>A (p.Tyr550Asn) n.246T>A c.1699T>A (p.Tyr567Asn) | |
| 17 | g.41758721G>A | CA500023060 | JUP | c.1647C>T (p.Pro549=) n.245C>T c.1698C>T (p.Pro566=) | |
| 17 | g.41758721G>C | CA500023062 | JUP | c.1647C>G (p.Pro549=) n.245C>G c.1698C>G (p.Pro566=) | |
| 17 | g.41758721G>T | CA500023061 | JUP | c.1647C>A (p.Pro549=) n.245C>A c.1698C>A (p.Pro566=) | gnomAD v4 COSMIC |
| 17 | g.41758722G>A | CA399493464 | JUP | c.1646C>T (p.Pro549Leu) n.244C>T c.1697C>T (p.Pro566Leu) | gnomAD v4 |
| 17 | g.41758722G>C | CA399493465 | JUP | c.1646C>G (p.Pro549Arg) n.244C>G c.1697C>G (p.Pro566Arg) | |
| 17 | g.41758722G= | CA2260170930 | JUP | c.1646C= (p.Pro549=) n.244C= c.1697C= (p.Pro566=) | |
| 17 | g.41758722G>T | CA399493470 | JUP | c.1646C>A (p.Pro549His) n.244C>A c.1697C>A (p.Pro566His) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41758723G>A | CA399493472 | JUP | c.1645C>T (p.Pro549Ser) n.243C>T c.1696C>T (p.Pro566Ser) | gnomAD v4 |
| 17 | g.41758723G>C | CA399493474 | JUP | c.1645C>G (p.Pro549Ala) n.243C>G c.1696C>G (p.Pro566Ala) | |
| 17 | g.41758723G>T | CA399493476 | JUP | c.1645C>A (p.Pro549Thr) n.243C>A c.1696C>A (p.Pro566Thr) | gnomAD v4 |
| 17 | g.41758724C>A | CA399493479 | JUP | c.1644G>T (p.Gln548His) n.242G>T c.1695G>T (p.Gln565His) | |
| 17 | g.41758724C>G | CA399493482 | JUP | c.1644G>C (p.Gln548His) n.242G>C c.1695G>C (p.Gln565His) | |
| 17 | g.41758724C>T | CA500023063 | JUP | c.1644G>A (p.Gln548=) n.242G>A c.1695G>A (p.Gln565=) | |
| 17 | g.41758725T>A | CA399493483 | JUP | c.1643A>T (p.Gln548Leu) n.241A>T c.1694A>T (p.Gln565Leu) | |
| 17 | g.41758725T>C | CA399493487 | JUP | c.1643A>G (p.Gln548Arg) n.241A>G c.1694A>G (p.Gln565Arg) | |
| 17 | g.41758725T>G | CA399493490 | JUP | c.1643A>C (p.Gln548Pro) n.241A>C c.1694A>C (p.Gln565Pro) | |
| 17 | g.41758726G>A | CA399493495 | JUP | c.1642C>T (p.Gln548Ter) n.240C>T c.1693C>T (p.Gln565Ter) | |
| 17 | g.41758726G>C | CA8565174 | JUP | c.1642C>G (p.Gln548Glu) n.240C>G c.1693C>G (p.Gln565Glu) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.41758726G= | CA2260170931 | JUP | c.1642C= (p.Gln548=) n.240C= c.1693C= (p.Gln565=) | |
| 17 | g.41758726G>T | CA399493493 | JUP | c.1642C>A (p.Gln548Lys) n.240C>A c.1693C>A (p.Gln565Lys) | gnomAD v4 |
| 17 | g.41758727C>A | CA399493501 | JUP | c.1641G>T (p.Gln547His) n.239G>T c.1692G>T (p.Gln564His) | gnomAD v4 |
| 17 | g.41758727C= | CA2260170932 | JUP | c.1641G= (p.Gln547=) n.239G= c.1692G= (p.Gln564=) | |
| 17 | g.41758727C>G | CA399493503 | JUP | c.1641G>C (p.Gln547His) n.239G>C c.1692G>C (p.Gln564His) | |
| 17 | g.41758727C>T | CA500023064 | JUP | c.1641G>A (p.Gln547=) n.239G>A c.1692G>A (p.Gln564=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758728T>A | CA399493505 | JUP | c.1640A>T (p.Gln547Leu) n.238A>T c.1691A>T (p.Gln564Leu) | |
| 17 | g.41758728T>C | CA399493508 | JUP | c.1640A>G (p.Gln547Arg) n.238A>G c.1691A>G (p.Gln564Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758728T>G | CA399493511 | JUP | c.1640A>C (p.Gln547Pro) n.238A>C c.1691A>C (p.Gln564Pro) | |
| 17 | g.41758728T= | CA2260170933 | JUP | c.1640A= (p.Gln547=) n.238A= c.1691A= (p.Gln564=) | |
| 17 | g.41758729G>A | CA399493513 | JUP | c.1639C>T (p.Gln547Ter) n.237C>T c.1690C>T (p.Gln564Ter) | ClinVar dbSNP |
| 17 | g.41758729G>C | CA399493516 | JUP | c.1639C>G (p.Gln547Glu) n.237C>G c.1690C>G (p.Gln564Glu) | |
| 17 | g.41758729G>T | CA399493518 | JUP | c.1639C>A (p.Gln547Lys) n.237C>A c.1690C>A (p.Gln564Lys) | gnomAD v4 |
| 17 | g.41758730T>A | CA500023065 | JUP | c.1638A>T (p.Thr546=) n.236A>T c.1689A>T (p.Thr563=) | |
| 17 | g.41758730T>C | CA8565175 | JUP | c.1638A>G (p.Thr546=) n.236A>G c.1689A>G (p.Thr563=) | ClinVar dbSNP ExAC gnomAD v2 |
| 17 | g.41758730T>G | CA500023066 | JUP | c.1638A>C (p.Thr546=) n.236A>C c.1689A>C (p.Thr563=) | |
| 17 | g.41758730T= | CA2260170934 | JUP | c.1638A= (p.Thr546=) n.236A= c.1689A= (p.Thr563=) | |
| 17 | g.41758731G>A | CA399493522 | JUP | c.1637C>T (p.Thr546Ile) n.235C>T c.1688C>T (p.Thr563Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758731G>C | CA399493524 | JUP | c.1637C>G (p.Thr546Arg) n.235C>G c.1688C>G (p.Thr563Arg) | |
| 17 | g.41758731G= | CA2260170935 | JUP | c.1637C= (p.Thr546=) n.235C= c.1688C= (p.Thr563=) | |
| 17 | g.41758731G>T | CA399493526 | JUP | c.1637C>A (p.Thr546Lys) n.235C>A c.1688C>A (p.Thr563Lys) | |
| 17 | g.41758732T>A | CA399493533 | JUP | c.1636A>T (p.Thr546Ser) n.234A>T c.1687A>T (p.Thr563Ser) | |
| 17 | g.41758732T>C | CA399493529 | JUP | c.1636A>G (p.Thr546Ala) n.234A>G c.1687A>G (p.Thr563Ala) | gnomAD v4 |
| 17 | g.41758732T>G | CA399493530 | JUP | c.1636A>C (p.Thr546Pro) n.234A>C c.1687A>C (p.Thr563Pro) | |
| 17 | g.41758733G>A | CA500023067 | JUP | c.1635C>T (p.Gly545=) n.233C>T c.1686C>T (p.Gly562=) | ClinVar |
| 17 | g.41758733G>C | CA500023068 | JUP | c.1635C>G (p.Gly545=) n.233C>G c.1686C>G (p.Gly562=) | |
| 17 | g.41758733G>T | CA500023069 | JUP | c.1635C>A (p.Gly545=) n.233C>A c.1686C>A (p.Gly562=) | |
| 17 | g.41758734C>A | CA399493535 | JUP | c.1634G>T (p.Gly545Val) n.232G>T c.1685G>T (p.Gly562Val) | |
| 17 | g.41758734C= | CA2260170936 | JUP | c.1634G= (p.Gly545=) n.232G= c.1685G= (p.Gly562=) | |
| 17 | g.41758734C>G | CA399493536 | JUP | c.1634G>C (p.Gly545Ala) n.232G>C c.1685G>C (p.Gly562Ala) | |
| 17 | g.41758734C>T | CA8565176 | JUP | c.1634G>A (p.Gly545Asp) n.232G>A c.1685G>A (p.Gly562Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41758735C>A | CA399493538 | JUP | c.1633G>T (p.Gly545Cys) n.231G>T c.1684G>T (p.Gly562Cys) | COSMIC |
| 17 | g.41758735C>G | CA399493540 | JUP | c.1633G>C (p.Gly545Arg) n.231G>C c.1684G>C (p.Gly562Arg) | |
| 17 | g.41758735C>T | CA399493542 | JUP | c.1633G>A (p.Gly545Ser) n.231G>A c.1684G>A (p.Gly562Ser) | |
| 17 | g.41758736T>A | CA500023072 | JUP | c.1632A>T (p.Ala544=) n.230A>T c.1683A>T (p.Ala561=) | |
| 17 | g.41758736T>C | CA500023070 | JUP | c.1632A>G (p.Ala544=) n.230A>G c.1683A>G (p.Ala561=) | gnomAD v4 |
| 17 | g.41758736T>G | CA500023071 | JUP | c.1632A>C (p.Ala544=) n.230A>C c.1683A>C (p.Ala561=) | |
| 17 | g.41758737G>A | CA8565177 | JUP | c.1631C>T (p.Ala544Val) n.229C>T c.1682C>T (p.Ala561Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758737G>C | CA399493547 | JUP | c.1631C>G (p.Ala544Gly) n.229C>G c.1682C>G (p.Ala561Gly) | |
| 17 | g.41758737G= | CA2260170937 | JUP | c.1631C= (p.Ala544=) n.229C= c.1682C= (p.Ala561=) | |
| 17 | g.41758737G>T | CA399493550 | JUP | c.1631C>A (p.Ala544Glu) n.229C>A c.1682C>A (p.Ala561Glu) | |
| 17 | g.41758738C>A | CA399493552 | JUP | c.1630G>T (p.Ala544Ser) n.228G>T c.1681G>T (p.Ala561Ser) | gnomAD v4 |
| 17 | g.41758738C>G | CA399493553 | JUP | c.1630G>C (p.Ala544Pro) n.228G>C c.1681G>C (p.Ala561Pro) | |
| 17 | g.41758738C>T | CA399493554 | JUP | c.1630G>A (p.Ala544Thr) n.228G>A c.1681G>A (p.Ala561Thr) | gnomAD v4 |
| 17 | g.41758739A>C | CA500023073 | JUP | c.1629T>G (p.Ala543=) n.227T>G c.1680T>G (p.Ala560=) | |
| 17 | g.41758739A>G | CA500023075 | JUP | c.1629T>C (p.Ala543=) n.227T>C c.1680T>C (p.Ala560=) | gnomAD v4 |
| 17 | g.41758739A>T | CA500023076 | JUP | c.1629T>A (p.Ala543=) n.227T>A c.1680T>A (p.Ala560=) | |
| 17 | g.41758740G>A | CA399493561 | JUP | c.1628C>T (p.Ala543Val) n.226C>T c.1679C>T (p.Ala560Val) | |
| 17 | g.41758740G>C | CA399493558 | JUP | c.1628C>G (p.Ala543Gly) n.226C>G c.1679C>G (p.Ala560Gly) | |
| 17 | g.41758740G>T | CA399493557 | JUP | c.1628C>A (p.Ala543Asp) n.226C>A c.1679C>A (p.Ala560Asp) | gnomAD v4 |
| 17 | g.41758741C>A | CA399493563 | JUP | c.1627G>T (p.Ala543Ser) n.225G>T c.1678G>T (p.Ala560Ser) | |
| 17 | g.41758741C= | CA2260170938 | JUP | c.1627G= (p.Ala543=) n.225G= c.1678G= (p.Ala560=) | |
| 17 | g.41758741C>G | CA399493565 | JUP | c.1627G>C (p.Ala543Pro) n.225G>C c.1678G>C (p.Ala560Pro) | |
| 17 | g.41758741C>T | CA399493567 | JUP | c.1627G>A (p.Ala543Thr) n.225G>A c.1678G>A (p.Ala560Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758742T>A | CA500023078 | JUP | c.1626A>T (p.Val542=) n.224A>T c.1677A>T (p.Val559=) | |
| 17 | g.41758742T>C | CA500023079 | JUP | c.1626A>G (p.Val542=) n.224A>G c.1677A>G (p.Val559=) | |
| 17 | g.41758742T>G | CA500023080 | JUP | c.1626A>C (p.Val542=) n.224A>C c.1677A>C (p.Val559=) | |
| 17 | g.41758743A>C | CA399493569 | JUP | c.1625T>G (p.Val542Gly) n.223T>G c.1676T>G (p.Val559Gly) | |
| 17 | g.41758743A>G | CA399493573 | JUP | c.1625T>C (p.Val542Ala) n.223T>C c.1676T>C (p.Val559Ala) | ClinVar dbSNP |
| 17 | g.41758743A>T | CA399493580 | JUP | c.1625T>A (p.Val542Glu) n.223T>A c.1676T>A (p.Val559Glu) | |
| 17 | g.41758744C>A | CA399493589 | JUP | c.1624G>T (p.Val542Leu) n.222G>T c.1675G>T (p.Val559Leu) | |
| 17 | g.41758744C= | CA2260170939 | JUP | c.1624G= (p.Val542=) n.222G= c.1675G= (p.Val559=) | |
| 17 | g.41758744C>G | CA399493587 | JUP | c.1624G>C (p.Val542Leu) n.222G>C c.1675G>C (p.Val559Leu) | |
| 17 | g.41758744C>T | CA8565178 | JUP | c.1624G>A (p.Val542Ile) n.222G>A c.1675G>A (p.Val559Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758745G>A | CA8565179 | JUP | c.1623C>T (p.His541=) n.221C>T c.1674C>T (p.His558=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41758745G>C | CA399493593 | JUP | c.1623C>G (p.His541Gln) n.221C>G c.1674C>G (p.His558Gln) | |
| 17 | g.41758745G= | CA2260170940 | JUP | c.1623C= (p.His541=) n.221C= c.1674C= (p.His558=) | |
| 17 | g.41758745G>T | CA399493596 | JUP | c.1623C>A (p.His541Gln) n.221C>A c.1674C>A (p.His558Gln) | |
| 17 | g.41758746T>A | CA290696239 | JUP | c.1622A>T (p.His541Leu) n.220A>T c.1673A>T (p.His558Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758746T>C | CA399493604 | JUP | c.1622A>G (p.His541Arg) n.220A>G c.1673A>G (p.His558Arg) | |
| 17 | g.41758746T>G | CA8565180 | JUP | c.1622A>C (p.His541Pro) n.220A>C c.1673A>C (p.His558Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758746T= | CA2260170941 | JUP | c.1622A= (p.His541=) n.220A= c.1673A= (p.His558=) | |
| 17 | g.41758747G>A | CA399493610 | JUP | c.1621C>T (p.His541Tyr) n.219C>T c.1672C>T (p.His558Tyr) | |
| 17 | g.41758747G>C | CA399493614 | JUP | c.1621C>G (p.His541Asp) n.219C>G c.1672C>G (p.His558Asp) | |
| 17 | g.41758747G>T | CA399493613 | JUP | c.1621C>A (p.His541Asn) n.219C>A c.1672C>A (p.His558Asn) | |
| 17 | g.41758748G>A | CA500023083 | JUP | c.1620C>T (p.Arg540=) n.218C>T c.1671C>T (p.Arg557=) | |
| 17 | g.41758748G>C | CA500023081 | JUP | c.1620C>G (p.Arg540=) n.218C>G c.1671C>G (p.Arg557=) | |
| 17 | g.41758748G>T | CA500023082 | JUP | c.1620C>A (p.Arg540=) n.218C>A c.1671C>A (p.Arg557=) | gnomAD v4 |
| 17 | g.41758749C>A | CA399493616 | JUP | c.1619G>T (p.Arg540Leu) n.217G>T c.1670G>T (p.Arg557Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758749C= | CA2260170942 | JUP | c.1619G= (p.Arg540=) n.217G= c.1670G= (p.Arg557=) | |
| 17 | g.41758749C>G | CA399493619 | JUP | c.1619G>C (p.Arg540Pro) n.217G>C c.1670G>C (p.Arg557Pro) | |
| 17 | g.41758749C>T | CA8565181 | JUP | c.1619G>A (p.Arg540His) n.217G>A c.1670G>A (p.Arg557His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41758750G>A | CA8565182 | JUP | c.1618C>T (p.Arg540Cys) n.216C>T c.1669C>T (p.Arg557Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.41758750G>C | CA399493620 | JUP | c.1618C>G (p.Arg540Gly) n.216C>G c.1669C>G (p.Arg557Gly) | |
| 17 | g.41758750G= | CA2260170943 | JUP | c.1618C= (p.Arg540=) n.216C= c.1669C= (p.Arg557=) | |
| 17 | g.41758750G>T | CA290696241 | JUP | c.1618C>A (p.Arg540Ser) n.216C>A c.1669C>A (p.Arg557Ser) | dbSNP gnomAD v4 |
| 17 | g.41758751C>A | CA399493624 | JUP | c.1617G>T (p.Gln539His) n.215G>T c.1668G>T (p.Gln556His) | |
| 17 | g.41758751C= | CA2260170944 | JUP | c.1617G= (p.Gln539=) n.215G= c.1668G= (p.Gln556=) | |
| 17 | g.41758751C>G | CA399493626 | JUP | c.1617G>C (p.Gln539His) n.215G>C c.1668G>C (p.Gln556His) | |
| 17 | g.41758751C>T | CA290696244 | JUP | c.1617G>A (p.Gln539=) n.215G>A c.1668G>A (p.Gln556=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41758752T>A | CA399493628 | JUP | c.1616A>T (p.Gln539Leu) n.214A>T c.1667A>T (p.Gln556Leu) | |
| 17 | g.41758752T>C | CA399493630 | JUP | c.1616A>G (p.Gln539Arg) n.214A>G c.1667A>G (p.Gln556Arg) | |
| 17 | g.41758752T>G | CA399493632 | JUP | c.1616A>C (p.Gln539Pro) n.214A>C c.1667A>C (p.Gln556Pro) | |
| 17 | g.41758753G>A | CA207164 | JUP | c.1615C>T (p.Gln539Ter) n.213C>T c.1666C>T (p.Gln556Ter) | ClinVar dbSNP gnomAD v2 |
| 17 | g.41758753G>C | CA399493638 | JUP | c.1615C>G (p.Gln539Glu) n.213C>G c.1666C>G (p.Gln556Glu) | |
| 17 | g.41758753G= | CA2260170945 | JUP | c.1615C= (p.Gln539=) n.213C= c.1666C= (p.Gln556=) | |
| 17 | g.41758753G>T | CA399493636 | JUP | c.1615C>A (p.Gln539Lys) n.213C>A c.1666C>A (p.Gln556Lys) | gnomAD v4 |
| 17 | g.41758755del | CA2637859907 | JUP | c.1615del (p.Gln539SerfsTer4) n.213del c.1666del (p.Gln556SerfsTer4) | gnomAD v4 |
| 17 | g.41758754G>A | CA500023084 | JUP | c.1614C>T (p.Ala538=) n.212C>T c.1665C>T (p.Ala555=) | |
| 17 | g.41758754G>C | CA500023085 | JUP | c.1614C>G (p.Ala538=) n.212C>G c.1665C>G (p.Ala555=) | |
| 17 | g.41758754G>T | CA500023086 | JUP | c.1614C>A (p.Ala538=) n.212C>A c.1665C>A (p.Ala555=) | |
| 17 | g.41758755G>A | CA399493641 | JUP | c.1613C>T (p.Ala538Val) n.211C>T c.1664C>T (p.Ala555Val) | |
| 17 | g.41758755G>C | CA399493643 | JUP | c.1613C>G (p.Ala538Gly) n.211C>G c.1664C>G (p.Ala555Gly) | gnomAD v4 |
| 17 | g.41758755G>T | CA399493646 | JUP | c.1613C>A (p.Ala538Asp) n.211C>A c.1664C>A (p.Ala555Asp) | |
| 17 | g.41758756C>A | CA399493649 | JUP | c.1612G>T (p.Ala538Ser) n.210G>T c.1663G>T (p.Ala555Ser) | |
| 17 | g.41758756C>G | CA399493652 | JUP | c.1612G>C (p.Ala538Pro) n.210G>C c.1663G>C (p.Ala555Pro) | |
| 17 | g.41758756C>T | CA399493654 | JUP | c.1612G>A (p.Ala538Thr) n.210G>A c.1663G>A (p.Ala555Thr) | |
| 17 | g.41758757A>C | CA399493657 | JUP | c.1611T>G (p.Asp537Glu) n.209T>G c.1662T>G (p.Asp554Glu) | |
| 17 | g.41758757A>G | CA500023087 | JUP | c.1611T>C (p.Asp537=) n.209T>C c.1662T>C (p.Asp554=) | |
| 17 | g.41758757A>T | CA399493661 | JUP | c.1611T>A (p.Asp537Glu) n.209T>A c.1662T>A (p.Asp554Glu) | |
| 17 | g.41758758T>A | CA399493663 | JUP | c.1610A>T (p.Asp537Val) n.208A>T c.1661A>T (p.Asp554Val) | dbSNP |
| 17 | g.41758758T>C | CA399493665 | JUP | c.1610A>G (p.Asp537Gly) n.208A>G c.1661A>G (p.Asp554Gly) | |
| 17 | g.41758758T>G | CA399493669 | JUP | c.1610A>C (p.Asp537Ala) n.208A>C c.1661A>C (p.Asp554Ala) | |
| 17 | g.41758758T= | CA2260170946 | JUP | c.1610A= (p.Asp537=) n.208A= c.1661A= (p.Asp554=) | |
| 17 | g.41758759C>A | CA399493678 | JUP | c.1609G>T (p.Asp537Tyr) n.207G>T c.1660G>T (p.Asp554Tyr) | |
| 17 | g.41758759C>G | CA399493675 | JUP | c.1609G>C (p.Asp537His) n.207G>C c.1660G>C (p.Asp554His) | |
| 17 | g.41758759C>T | CA399493673 | JUP | c.1609G>A (p.Asp537Asn) n.207G>A c.1660G>A (p.Asp554Asn) | |
| 17 | g.41758760C>A | CA399493679 | JUP | c.1608G>T (p.Gln536His) n.206G>T c.1659G>T (p.Gln553His) | COSMIC |
| 17 | g.41758760C>G | CA399493682 | JUP | c.1608G>C (p.Gln536His) n.206G>C c.1659G>C (p.Gln553His) | |
| 17 | g.41758760C>T | CA500023089 | JUP | c.1608G>A (p.Gln536=) n.206G>A c.1659G>A (p.Gln553=) | |
| 17 | g.41758761T>A | CA399493685 | JUP | c.1607A>T (p.Gln536Leu) n.205A>T c.1658A>T (p.Gln553Leu) | gnomAD v4 |
| 17 | g.41758761T>C | CA399493687 | JUP | c.1607A>G (p.Gln536Arg) n.205A>G c.1658A>G (p.Gln553Arg) | |
| 17 | g.41758761T>G | CA399493690 | JUP | c.1607A>C (p.Gln536Pro) n.205A>C c.1658A>C (p.Gln553Pro) | |
| 17 | g.41758762G>A | CA399493692 | JUP | c.1606C>T (p.Gln536Ter) n.204C>T c.1657C>T (p.Gln553Ter) | |
| 17 | g.41758762G>C | CA8565183 | JUP | c.1606C>G (p.Gln536Glu) n.204C>G c.1657C>G (p.Gln553Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758762G= | CA2260170947 | JUP | c.1606C= (p.Gln536=) n.204C= c.1657C= (p.Gln553=) | |
| 17 | g.41758762G>T | CA399493694 | JUP | c.1606C>A (p.Gln536Lys) n.204C>A c.1657C>A (p.Gln553Lys) | |
| 17 | g.41758763G>A | CA500023090 | JUP | c.1605C>T (p.His535=) n.203C>T c.1656C>T (p.His552=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758763G>C | CA399493696 | JUP | c.1605C>G (p.His535Gln) n.203C>G c.1656C>G (p.His552Gln) | |
| 17 | g.41758763G= | CA2260170948 | JUP | c.1605C= (p.His535=) n.203C= c.1656C= (p.His552=) | |
| 17 | g.41758763G>T | CA399493697 | JUP | c.1605C>A (p.His535Gln) n.203C>A c.1656C>A (p.His552Gln) | |
| 17 | g.41758764T>A | CA399493700 | JUP | c.1604A>T (p.His535Leu) n.202A>T c.1655A>T (p.His552Leu) | |
| 17 | g.41758764T>C | CA399493702 | JUP | c.1604A>G (p.His535Arg) n.202A>G c.1655A>G (p.His552Arg) | |
| 17 | g.41758764T>G | CA399493704 | JUP | c.1604A>C (p.His535Pro) n.202A>C c.1655A>C (p.His552Pro) | |
| 17 | g.41758765G>A | CA399493709 | JUP | c.1603C>T (p.His535Tyr) n.201C>T c.1654C>T (p.His552Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758765G>C | CA399493711 | JUP | c.1603C>G (p.His535Asp) n.201C>G c.1654C>G (p.His552Asp) | |
| 17 | g.41758765G= | CA2260170949 | JUP | c.1603C= (p.His535=) n.201C= c.1654C= (p.His552=) | |
| 17 | g.41758765G>T | CA399493707 | JUP | c.1603C>A (p.His535Asn) n.201C>A c.1654C>A (p.His552Asn) | |
| 17 | g.41758766G>A | CA8565184 | JUP | c.1602C>T (p.Ala534=) n.200C>T c.1653C>T (p.Ala551=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41758766G>C | CA500023091 | JUP | c.1602C>G (p.Ala534=) n.200C>G c.1653C>G (p.Ala551=) | |
| 17 | g.41758766G= | CA2260170950 | JUP | c.1602C= (p.Ala534=) n.200C= c.1653C= (p.Ala551=) | |
| 17 | g.41758766G>T | CA500023092 | JUP | c.1602C>A (p.Ala534=) n.200C>A c.1653C>A (p.Ala551=) | |
| 17 | g.41758767G>A | CA399493714 | JUP | c.1601C>T (p.Ala534Val) n.199C>T c.1652C>T (p.Ala551Val) | gnomAD v4 |
| 17 | g.41758767G>C | CA399493717 | JUP | c.1601C>G (p.Ala534Gly) n.199C>G c.1652C>G (p.Ala551Gly) | |
| 17 | g.41758767G>T | CA399493718 | JUP | c.1601C>A (p.Ala534Asp) n.199C>A c.1652C>A (p.Ala551Asp) | |
| 17 | g.41758768C>A | CA399493719 | JUP | c.1600G>T (p.Ala534Ser) n.198G>T c.1651G>T (p.Ala551Ser) | |
| 17 | g.41758768C>G | CA399493722 | JUP | c.1600G>C (p.Ala534Pro) n.198G>C c.1651G>C (p.Ala551Pro) | |
| 17 | g.41758768C>T | CA399493725 | JUP | c.1600G>A (p.Ala534Thr) n.198G>A c.1651G>A (p.Ala551Thr) | |
| 17 | g.41758769C>A | CA399493727 | JUP | c.1599G>T (p.Lys533Asn) n.197G>T c.1650G>T (p.Lys550Asn) | |
| 17 | g.41758769C= | CA2260170951 | JUP | c.1599G= (p.Lys533=) n.197G= c.1650G= (p.Lys550=) | |
| 17 | g.41758769C>G | CA399493728 | JUP | c.1599G>C (p.Lys533Asn) n.197G>C c.1650G>C (p.Lys550Asn) | |
| 17 | g.41758769C>T | CA290696258 | JUP | c.1599G>A (p.Lys533=) n.197G>A c.1650G>A (p.Lys550=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758770T>A | CA399493732 | JUP | c.1598A>T (p.Lys533Met) n.196A>T c.1649A>T (p.Lys550Met) | dbSNP gnomAD v4 |
| 17 | g.41758770T>C | CA399493734 | JUP | c.1598A>G (p.Lys533Arg) n.196A>G c.1649A>G (p.Lys550Arg) | dbSNP |
| 17 | g.41758770T>G | CA399493736 | JUP | c.1598A>C (p.Lys533Thr) n.196A>C c.1649A>C (p.Lys550Thr) | |
| 17 | g.41758770T= | CA2260170952 | JUP | c.1598A= (p.Lys533=) n.196A= c.1649A= (p.Lys550=) | |
| 17 | g.41758771T>A | CA399493740 | JUP | c.1597A>T (p.Lys533Ter) n.195A>T c.1648A>T (p.Lys550Ter) | |
| 17 | g.41758771T>C | CA399493741 | JUP | c.1597A>G (p.Lys533Glu) n.195A>G c.1648A>G (p.Lys550Glu) | ClinVar |
| 17 | g.41758771T>G | CA399493737 | JUP | c.1597A>C (p.Lys533Gln) n.195A>C c.1648A>C (p.Lys550Gln) | |
| 17 | g.41758772C>A | CA500023095 | JUP | c.1596G>T (p.Val532=) n.194G>T c.1647G>T (p.Val549=) | gnomAD v4 |
| 17 | g.41758772C>G | CA500023093 | JUP | c.1596G>C (p.Val532=) n.194G>C c.1647G>C (p.Val549=) | |
| 17 | g.41758772C>T | CA500023094 | JUP | c.1596G>A (p.Val532=) n.194G>A c.1647G>A (p.Val549=) | ClinVar |
| 17 | g.41758773A>C | CA399493743 | JUP | c.1595T>G (p.Val532Gly) n.193T>G c.1646T>G (p.Val549Gly) | |
| 17 | g.41758773A>G | CA399493745 | JUP | c.1595T>C (p.Val532Ala) n.193T>C c.1646T>C (p.Val549Ala) | |
| 17 | g.41758773A>T | CA399493747 | JUP | c.1595T>A (p.Val532Glu) n.193T>A c.1646T>A (p.Val549Glu) | |
| 17 | g.41758774C>A | CA399493748 | JUP | c.1594G>T (p.Val532Leu) n.192G>T c.1645G>T (p.Val549Leu) | |
| 17 | g.41758774C= | CA2260170953 | JUP | c.1594G= (p.Val532=) n.192G= c.1645G= (p.Val549=) | |
| 17 | g.41758774C>G | CA399493749 | JUP | c.1594G>C (p.Val532Leu) n.192G>C c.1645G>C (p.Val549Leu) | |
| 17 | g.41758774C>T | CA399493750 | JUP | c.1594G>A (p.Val532Met) n.192G>A c.1645G>A (p.Val549Met) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758775C>A | CA500023096 | JUP | c.1593G>T (p.Leu531=) n.191G>T c.1644G>T (p.Leu548=) | |
| 17 | g.41758775C>G | CA500023097 | JUP | c.1593G>C (p.Leu531=) n.191G>C c.1644G>C (p.Leu548=) | |
| 17 | g.41758775C>T | CA500023098 | JUP | c.1593G>A (p.Leu531=) n.191G>A c.1644G>A (p.Leu548=) | gnomAD v4 |
| 17 | g.41758776A>C | CA399493751 | JUP | c.1592T>G (p.Leu531Arg) n.190T>G c.1643T>G (p.Leu548Arg) | |
| 17 | g.41758776A>G | CA399493753 | JUP | c.1592T>C (p.Leu531Pro) n.190T>C c.1643T>C (p.Leu548Pro) | |
| 17 | g.41758776A>T | CA399493752 | JUP | c.1592T>A (p.Leu531Gln) n.190T>A c.1643T>A (p.Leu548Gln) | |
| 17 | g.41758777G>A | CA500023099 | JUP | c.1591C>T (p.Leu531=) n.189C>T c.1642C>T (p.Leu548=) | |
| 17 | g.41758777G>C | CA399493754 | JUP | c.1591C>G (p.Leu531Val) n.189C>G c.1642C>G (p.Leu548Val) | |
| 17 | g.41758777G>T | CA399493755 | JUP | c.1591C>A (p.Leu531Met) n.189C>A c.1642C>A (p.Leu548Met) | |
| 17 | g.41758778C>A | CA500023100 | JUP | c.1590G>T (p.Leu530=) n.188G>T c.1641G>T (p.Leu547=) | |
| 17 | g.41758778C>G | CA500023101 | JUP | c.1590G>C (p.Leu530=) n.188G>C c.1641G>C (p.Leu547=) | |
| 17 | g.41758778C>T | CA500023102 | JUP | c.1590G>A (p.Leu530=) n.188G>A c.1641G>A (p.Leu547=) | |
| 17 | g.41758779A= | CA2260170954 | JUP | c.1589T= (p.Leu530=) n.187T= c.1640T= (p.Leu547=) | |
| 17 | g.41758779A>C | CA399493758 | JUP | c.1589T>G (p.Leu530Arg) n.187T>G c.1640T>G (p.Leu547Arg) | dbSNP |
| 17 | g.41758779A>G | CA399493760 | JUP | c.1589T>C (p.Leu530Pro) n.187T>C c.1640T>C (p.Leu547Pro) | |
| 17 | g.41758779A>T | CA399493761 | JUP | c.1589T>A (p.Leu530Gln) n.187T>A c.1640T>A (p.Leu547Gln) | |
| 17 | g.41758780G>A | CA500023103 | JUP | c.1588C>T (p.Leu530=) n.186C>T c.1639C>T (p.Leu547=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758780G>C | CA399493765 | JUP | c.1588C>G (p.Leu530Val) n.186C>G c.1639C>G (p.Leu547Val) | |
| 17 | g.41758780G= | CA2260170955 | JUP | c.1588C= (p.Leu530=) n.186C= c.1639C= (p.Leu547=) | |
| 17 | g.41758780G>T | CA399493763 | JUP | c.1588C>A (p.Leu530Met) n.186C>A c.1639C>A (p.Leu547Met) | |
| 17 | g.41758781T>A | CA399493766 | JUP | c.1587A>T (p.Gln529His) n.185A>T c.1638A>T (p.Gln546His) | dbSNP |
| 17 | g.41758781T>C | CA10645644 | JUP | c.1587A>G (p.Gln529=) n.185A>G c.1638A>G (p.Gln546=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758781T>G | CA399493768 | JUP | c.1587A>C (p.Gln529His) n.185A>C c.1638A>C (p.Gln546His) | |
| 17 | g.41758781T= | CA2260170956 | JUP | c.1587A= (p.Gln529=) n.185A= c.1638A= (p.Gln546=) | |
| 17 | g.41758782T>A | CA399493769 | JUP | c.1586A>T (p.Gln529Leu) n.184A>T c.1637A>T (p.Gln546Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41758782T>C | CA399493770 | JUP | c.1586A>G (p.Gln529Arg) n.184A>G c.1637A>G (p.Gln546Arg) | |
| 17 | g.41758782T>G | CA399493771 | JUP | c.1586A>C (p.Gln529Pro) n.184A>C c.1637A>C (p.Gln546Pro) | |
| 17 | g.41758782T= | CA2260170957 | JUP | c.1586A= (p.Gln529=) n.184A= c.1637A= (p.Gln546=) | |
| 17 | g.41758783G>A | CA399493774 | JUP | c.1585C>T (p.Gln529Ter) n.183C>T c.1636C>T (p.Gln546Ter) | |
| 17 | g.41758783G>C | CA399493773 | JUP | c.1585C>G (p.Gln529Glu) n.183C>G c.1636C>G (p.Gln546Glu) | |
| 17 | g.41758783G>T | CA399493772 | JUP | c.1585C>A (p.Gln529Lys) n.183C>A c.1636C>A (p.Gln546Lys) | |
| 17 | g.41758783_41758786delinsGGAC | CA2260170958 | JUP | c.1582_1585delinsGTCC (p.Val528=) n.180_183delinsGTCC c.1633_1636delinsGTCC (p.Val545=) | |
| 17 | g.41758784G>A | CA500023106 | JUP | c.1584C>T (p.Val528=) n.182C>T c.1635C>T (p.Val545=) | dbSNP gnomAD v2 |
| 17 | g.41758784G>C | CA500023104 | JUP | c.1584C>G (p.Val528=) n.182C>G c.1635C>G (p.Val545=) | |
| 17 | g.41758784G= | CA2260170959 | JUP | c.1584C= (p.Val528=) n.182C= c.1635C= (p.Val545=) | |
| 17 | g.41758784G>T | CA500023105 | JUP | c.1584C>A (p.Val528=) n.182C>A c.1635C>A (p.Val545=) | |
| 17 | g.41758786_41758788del | CA983781346 | JUP | c.1582_1584del (p.Val528del) n.180_182del c.1633_1635del (p.Val545del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41758785A>C | CA399493775 | JUP | c.1583T>G (p.Val528Gly) n.181T>G c.1634T>G (p.Val545Gly) | |
| 17 | g.41758785A>G | CA399493776 | JUP | c.1583T>C (p.Val528Ala) n.181T>C c.1634T>C (p.Val545Ala) | |
| 17 | g.41758785A>T | CA399493777 | JUP | c.1583T>A (p.Val528Asp) n.181T>A c.1634T>A (p.Val545Asp) | |
| 17 | g.41758786C>A | CA399493779 | JUP | c.1582G>T (p.Val528Phe) n.180G>T c.1633G>T (p.Val545Phe) | |
| 17 | g.41758786C= | CA2260170960 | JUP | c.1582G= (p.Val528=) n.180G= c.1633G= (p.Val545=) | |
| 17 | g.41758786C>G | CA399493784 | JUP | c.1582G>C (p.Val528Leu) n.180G>C c.1633G>C (p.Val545Leu) | |
| 17 | g.41758786C>T | CA308536 | JUP | c.1582G>A (p.Val528Ile) n.180G>A c.1633G>A (p.Val545Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758787G>A | CA500023107 | JUP | c.1581C>T (p.Leu527=) n.179C>T c.1632C>T (p.Leu544=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758787G>C | CA500023108 | JUP | c.1581C>G (p.Leu527=) n.179C>G c.1632C>G (p.Leu544=) | |
| 17 | g.41758787G= | CA2260170961 | JUP | c.1581C= (p.Leu527=) n.179C= c.1632C= (p.Leu544=) | |
| 17 | g.41758787G>T | CA500023109 | JUP | c.1581C>A (p.Leu527=) n.179C>A c.1632C>A (p.Leu544=) | |
| 17 | g.41758788A>C | CA399493790 | JUP | c.1580T>G (p.Leu527Arg) n.178T>G c.1631T>G (p.Leu544Arg) | |
| 17 | g.41758788A>G | CA399493803 | JUP | c.1580T>C (p.Leu527Pro) n.178T>C c.1631T>C (p.Leu544Pro) | |
| 17 | g.41758788A>T | CA399493801 | JUP | c.1580T>A (p.Leu527His) n.178T>A c.1631T>A (p.Leu544His) | |
| 17 | g.41758789G>A | CA399493805 | JUP | c.1579C>T (p.Leu527Phe) n.177C>T c.1630C>T (p.Leu544Phe) | |
| 17 | g.41758789G>C | CA399493806 | JUP | c.1579C>G (p.Leu527Val) n.177C>G c.1630C>G (p.Leu544Val) | |
| 17 | g.41758789G>T | CA399493809 | JUP | c.1579C>A (p.Leu527Ile) n.177C>A c.1630C>A (p.Leu544Ile) | |
| 17 | g.41758790G>A | CA500023110 | JUP | c.1578C>T (p.Arg526=) n.176C>T c.1629C>T (p.Arg543=) | |
| 17 | g.41758790G>C | CA500023111 | JUP | c.1578C>G (p.Arg526=) n.176C>G c.1629C>G (p.Arg543=) | |
| 17 | g.41758790G>T | CA500023112 | JUP | c.1578C>A (p.Arg526=) n.176C>A c.1629C>A (p.Arg543=) | |
| 17 | g.41758791C>A | CA8565186 | JUP | c.1577G>T (p.Arg526Leu) n.175G>T c.1628G>T (p.Arg543Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41758791C= | CA2260170962 | JUP | c.1577G= (p.Arg526=) n.175G= c.1628G= (p.Arg543=) | |
| 17 | g.41758791C>G | CA399493811 | JUP | c.1577G>C (p.Arg526Pro) n.175G>C c.1628G>C (p.Arg543Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758791C>T | CA8565185 | JUP | c.1577G>A (p.Arg526His) n.175G>A c.1628G>A (p.Arg543His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758792G>A | CA8565187 | JUP | c.1576C>T (p.Arg526Cys) n.174C>T c.1627C>T (p.Arg543Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758792G>C | CA399493815 | JUP | c.1576C>G (p.Arg526Gly) n.174C>G c.1627C>G (p.Arg543Gly) | |
| 17 | g.41758792G= | CA2260170963 | JUP | c.1576C= (p.Arg526=) n.174C= c.1627C= (p.Arg543=) | |
| 17 | g.41758792G>T | CA399493817 | JUP | c.1576C>A (p.Arg526Ser) n.174C>A c.1627C>A (p.Arg543Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41758793G>A | CA500023113 | JUP | c.1575C>T (p.Pro525=) n.173C>T c.1626C>T (p.Pro542=) | |
| 17 | g.41758793G>C | CA500023115 | JUP | c.1575C>G (p.Pro525=) n.173C>G c.1626C>G (p.Pro542=) | |
| 17 | g.41758793G>T | CA500023114 | JUP | c.1575C>A (p.Pro525=) n.173C>A c.1626C>A (p.Pro542=) | |
| 17 | g.41758794G>A | CA8565188 | JUP | c.1574C>T (p.Pro525Leu) n.172C>T c.1625C>T (p.Pro542Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758794G>C | CA399493819 | JUP | c.1574C>G (p.Pro525Arg) n.172C>G c.1625C>G (p.Pro542Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758794G= | CA2260170964 | JUP | c.1574C= (p.Pro525=) n.172C= c.1625C= (p.Pro542=) | |
| 17 | g.41758794G>T | CA399493820 | JUP | c.1574C>A (p.Pro525His) n.172C>A c.1625C>A (p.Pro542His) | |
| 17 | g.41758795G>A | CA399493821 | JUP | c.1573C>T (p.Pro525Ser) n.171C>T c.1624C>T (p.Pro542Ser) | ClinVar dbSNP |
| 17 | g.41758795G>C | CA399493823 | JUP | c.1573C>G (p.Pro525Ala) n.171C>G c.1624C>G (p.Pro542Ala) | |
| 17 | g.41758795G= | CA2260170965 | JUP | c.1573C= (p.Pro525=) n.171C= c.1624C= (p.Pro542=) | |
| 17 | g.41758795G>T | CA399493822 | JUP | c.1573C>A (p.Pro525Thr) n.171C>A c.1624C>A (p.Pro542Thr) | |
| 17 | g.41758796G>A | CA500023117 | JUP | c.1572C>T (p.Ile524=) n.170C>T c.1623C>T (p.Ile541=) | gnomAD v4 |
| 17 | g.41758796G>C | CA399493825 | JUP | c.1572C>G (p.Ile524Met) n.170C>G c.1623C>G (p.Ile541Met) | |
| 17 | g.41758796G>T | CA500023116 | JUP | c.1572C>A (p.Ile524=) n.170C>A c.1623C>A (p.Ile541=) | |
| 17 | g.41758797A>C | CA399493830 | JUP | c.1571T>G (p.Ile524Ser) n.169T>G c.1622T>G (p.Ile541Ser) | |
| 17 | g.41758797A>G | CA399493826 | JUP | c.1571T>C (p.Ile524Thr) n.169T>C c.1622T>C (p.Ile541Thr) | gnomAD v4 COSMIC |
| 17 | g.41758797A>T | CA399493828 | JUP | c.1571T>A (p.Ile524Asn) n.169T>A c.1622T>A (p.Ile541Asn) | |
| 17 | g.41758798T>A | CA399493831 | JUP | c.1570A>T (p.Ile524Phe) n.168A>T c.1621A>T (p.Ile541Phe) | |
| 17 | g.41758798T>C | CA399493832 | JUP | c.1570A>G (p.Ile524Val) n.168A>G c.1621A>G (p.Ile541Val) | |
| 17 | g.41758798T>G | CA399493835 | JUP | c.1570A>C (p.Ile524Leu) n.168A>C c.1621A>C (p.Ile541Leu) | |
| 17 | g.41758800_41758829del | CA2637859920 | JUP | c.1541_1570del (p.Asn514_Val523del) n.139_168del c.1592_1621del (p.Asn531_Val540del) | gnomAD v4 |
| 17 | g.41758799G>A | CA500023118 | JUP | c.1569C>T (p.Val523=) n.167C>T c.1620C>T (p.Val540=) | gnomAD v4 |
| 17 | g.41758799G>C | CA500023119 | JUP | c.1569C>G (p.Val523=) n.167C>G c.1620C>G (p.Val540=) | |
| 17 | g.41758799G>T | CA500023120 | JUP | c.1569C>A (p.Val523=) n.167C>A c.1620C>A (p.Val540=) | gnomAD v4 |
| 17 | g.41758800A>C | CA399493837 | JUP | c.1568T>G (p.Val523Gly) n.166T>G c.1619T>G (p.Val540Gly) | |
| 17 | g.41758800A>G | CA399493839 | JUP | c.1568T>C (p.Val523Ala) n.166T>C c.1619T>C (p.Val540Ala) | |
| 17 | g.41758800A>T | CA399493841 | JUP | c.1568T>A (p.Val523Asp) n.166T>A c.1619T>A (p.Val540Asp) | gnomAD v4 |
| 17 | g.41758801C>A | CA399493842 | JUP | c.1567G>T (p.Val523Phe) n.165G>T c.1618G>T (p.Val540Phe) | gnomAD v4 |
| 17 | g.41758801C= | CA2260170966 | JUP | c.1567G= (p.Val523=) n.165G= c.1618G= (p.Val540=) | |
| 17 | g.41758801C>G | CA399493843 | JUP | c.1567G>C (p.Val523Leu) n.165G>C c.1618G>C (p.Val540Leu) | dbSNP |
| 17 | g.41758801C>T | CA399493845 | JUP | c.1567G>A (p.Val523Ile) n.165G>A c.1618G>A (p.Val540Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.41758802C>A | CA500023121 | JUP | c.1566G>T (p.Ala522=) n.164G>T c.1617G>T (p.Ala539=) | |
| 17 | g.41758802C= | CA2260170967 | JUP | c.1566G= (p.Ala522=) n.164G= c.1617G= (p.Ala539=) | |
| 17 | g.41758802C>G | CA500023122 | JUP | c.1566G>C (p.Ala522=) n.164G>C c.1617G>C (p.Ala539=) | |
| 17 | g.41758802C>T | CA8565189 | JUP | c.1566G>A (p.Ala522=) n.164G>A c.1617G>A (p.Ala539=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758803G>A | CA16615357 | JUP | c.1565C>T (p.Ala522Val) n.163C>T c.1616C>T (p.Ala539Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41758803G>C | CA399493852 | JUP | c.1565C>G (p.Ala522Gly) n.163C>G c.1616C>G (p.Ala539Gly) | gnomAD v4 |
| 17 | g.41758803G= | CA2260170968 | JUP | c.1565C= (p.Ala522=) n.163C= c.1616C= (p.Ala539=) | |
| 17 | g.41758803G>T | CA399493848 | JUP | c.1565C>A (p.Ala522Glu) n.163C>A c.1616C>A (p.Ala539Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758805_41758807dup | CA983781376 | JUP | c.1563_1565dup (p.Ala522_Val523insAla) n.161_163dup c.1614_1616dup (p.Ala539_Val540insAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41758804C>A | CA399493854 | JUP | c.1564G>T (p.Ala522Ser) n.162G>T c.1615G>T (p.Ala539Ser) | |
| 17 | g.41758804C>G | CA399493857 | JUP | c.1564G>C (p.Ala522Pro) n.162G>C c.1615G>C (p.Ala539Pro) | |
| 17 | g.41758804C>T | CA399493860 | JUP | c.1564G>A (p.Ala522Thr) n.162G>A c.1615G>A (p.Ala539Thr) | |
| 17 | g.41758805T>A | CA500023123 | JUP | c.1563A>T (p.Ala521=) n.161A>T c.1614A>T (p.Ala538=) | |
| 17 | g.41758805T>C | CA137145 | JUP | c.1563A>G (p.Ala521=) n.161A>G c.1614A>G (p.Ala538=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758805T>G | CA500023124 | JUP | c.1563A>C (p.Ala521=) n.161A>C c.1614A>C (p.Ala538=) | |
| 17 | g.41758805T= | CA2260170969 | JUP | c.1563A= (p.Ala521=) n.161A= c.1614A= (p.Ala538=) | |
| 17 | g.41758806G>A | CA399493864 | JUP | c.1562C>T (p.Ala521Val) n.160C>T c.1613C>T (p.Ala538Val) | |
| 17 | g.41758806G>C | CA399493865 | JUP | c.1562C>G (p.Ala521Gly) n.160C>G c.1613C>G (p.Ala538Gly) | |
| 17 | g.41758806G>T | CA399493874 | JUP | c.1562C>A (p.Ala521Glu) n.160C>A c.1613C>A (p.Ala538Glu) | |
| 17 | g.41758807C>A | CA399493875 | JUP | c.1561G>T (p.Ala521Ser) n.159G>T c.1612G>T (p.Ala538Ser) | |
| 17 | g.41758807C>G | CA399493879 | JUP | c.1561G>C (p.Ala521Pro) n.159G>C c.1612G>C (p.Ala538Pro) | |
| 17 | g.41758807C>T | CA399493881 | JUP | c.1561G>A (p.Ala521Thr) n.159G>A c.1612G>A (p.Ala538Thr) | |
| 17 | g.41758808C>A | CA399493884 | JUP | c.1560G>T (p.Glu520Asp) n.158G>T c.1611G>T (p.Glu537Asp) | |
| 17 | g.41758808C>G | CA399493887 | JUP | c.1560G>C (p.Glu520Asp) n.158G>C c.1611G>C (p.Glu537Asp) | |
| 17 | g.41758808C>T | CA500023125 | JUP | c.1560G>A (p.Glu520=) n.158G>A c.1611G>A (p.Glu537=) | |
| 17 | g.41758809T>A | CA399493901 | JUP | c.1559A>T (p.Glu520Val) n.157A>T c.1610A>T (p.Glu537Val) | |
| 17 | g.41758809T>C | CA399493899 | JUP | c.1559A>G (p.Glu520Gly) n.157A>G c.1610A>G (p.Glu537Gly) | |
| 17 | g.41758809T>G | CA399493890 | JUP | c.1559A>C (p.Glu520Ala) n.157A>C c.1610A>C (p.Glu537Ala) | gnomAD v4 |
| 17 | g.41758810C>A | CA399493903 | JUP | c.1558G>T (p.Glu520Ter) n.156G>T c.1609G>T (p.Glu537Ter) | |
| 17 | g.41758810C>G | CA399493906 | JUP | c.1558G>C (p.Glu520Gln) n.156G>C c.1609G>C (p.Glu537Gln) | |
| 17 | g.41758810C>T | CA399493909 | JUP | c.1558G>A (p.Glu520Lys) n.156G>A c.1609G>A (p.Glu537Lys) | |
| 17 | g.41758811C>A | CA399493911 | JUP | c.1557G>T (p.Gln519His) n.155G>T c.1608G>T (p.Gln536His) | |
| 17 | g.41758811C= | CA2260170970 | JUP | c.1557G= (p.Gln519=) n.155G= c.1608G= (p.Gln536=) | |
| 17 | g.41758811C>G | CA399493912 | JUP | c.1557G>C (p.Gln519His) n.155G>C c.1608G>C (p.Gln536His) | |
| 17 | g.41758811C>T | CA500023126 | JUP | c.1557G>A (p.Gln519=) n.155G>A c.1608G>A (p.Gln536=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41758812T>A | CA16615741 | JUP | c.1556A>T (p.Gln519Leu) n.154A>T c.1607A>T (p.Gln536Leu) | ClinVar dbSNP |
| 17 | g.41758812T>C | CA399493913 | JUP | c.1556A>G (p.Gln519Arg) n.154A>G c.1607A>G (p.Gln536Arg) | gnomAD v4 |
| 17 | g.41758812T>G | CA399493916 | JUP | c.1556A>C (p.Gln519Pro) n.154A>C c.1607A>C (p.Gln536Pro) | |
| 17 | g.41758812T= | CA2260170971 | JUP | c.1556A= (p.Gln519=) n.154A= c.1607A= (p.Gln536=) | |
| 17 | g.41758813G>A | CA399493918 | JUP | c.1555C>T (p.Gln519Ter) n.153C>T c.1606C>T (p.Gln536Ter) | dbSNP gnomAD v2 |
| 17 | g.41758813G>C | CA290696277 | JUP | c.1555C>G (p.Gln519Glu) n.153C>G c.1606C>G (p.Gln536Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41758813G= | CA2260170972 | JUP | c.1555C= (p.Gln519=) n.153C= c.1606C= (p.Gln536=) | |
| 17 | g.41758813G>T | CA399493925 | JUP | c.1555C>A (p.Gln519Lys) n.153C>A c.1606C>A (p.Gln536Lys) | |
| 17 | g.41758814C>A | CA500023127 | JUP | c.1554G>T (p.Leu518=) n.152G>T c.1605G>T (p.Leu535=) | |
| 17 | g.41758814C>G | CA500023128 | JUP | c.1554G>C (p.Leu518=) n.152G>C c.1605G>C (p.Leu535=) | |
| 17 | g.41758814C>T | CA500023129 | JUP | c.1554G>A (p.Leu518=) n.152G>A c.1605G>A (p.Leu535=) | |
| 17 | g.41758815A>C | CA399493928 | JUP | c.1553T>G (p.Leu518Arg) n.151T>G c.1604T>G (p.Leu535Arg) | |
| 17 | g.41758815A>G | CA399493931 | JUP | c.1553T>C (p.Leu518Pro) n.151T>C c.1604T>C (p.Leu535Pro) | |
| 17 | g.41758815A>T | CA399493933 | JUP | c.1553T>A (p.Leu518Gln) n.151T>A c.1604T>A (p.Leu535Gln) |