| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.54937811_54942169dup | CA407860473 | NLRP7 | c.-39-386_2129+266dup c.-39-386_2045+266dup c.46-386_2213+266dup n.480-386_2647+266dup | ClinVar |
| 19 | g.54939121_54939196del | CA2695229190 | NLRP7 | c.1625_1700del (p.Met542ThrfsTer2) c.1709_1784del (p.Met570ThrfsTer2) n.2143_2218del | |
| 19 | g.54939142_54939150del | CA2736091170 | NLRP7 | c.1669_1677del (p.Leu557_Ala559del) c.1753_1761del (p.Leu585_Ala587del) n.2187_2195del | dbSNP |
| 19 | g.54939150G>A | CA407861476 | NLRP7 | c.1669C>T (p.Leu557Phe) c.1753C>T (p.Leu585Phe) n.2187C>T | |
| 19 | g.54939150G>C | CA407861478 | NLRP7 | c.1669C>G (p.Leu557Val) c.1753C>G (p.Leu585Val) n.2187C>G | |
| 19 | g.54939150G>T | CA407861477 | NLRP7 | c.1669C>A (p.Leu557Ile) c.1753C>A (p.Leu585Ile) n.2187C>A | |
| 19 | g.54939151A>C | CA407861479 | NLRP7 | c.1668T>G (p.His556Gln) c.1752T>G (p.His584Gln) n.2186T>G | |
| 19 | g.54939151A>T | CA407861480 | NLRP7 | c.1668T>A (p.His556Gln) c.1752T>A (p.His584Gln) n.2186T>A | COSMIC COSMIC COSMIC |
| 19 | g.54939152T>A | CA407861481 | NLRP7 | c.1667A>T (p.His556Leu) c.1751A>T (p.His584Leu) n.2185A>T | |
| 19 | g.54939152T>C | CA407861482 | NLRP7 | c.1667A>G (p.His556Arg) c.1751A>G (p.His584Arg) n.2185A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939152T>G | CA407861483 | NLRP7 | c.1667A>C (p.His556Pro) c.1751A>C (p.His584Pro) n.2185A>C | dbSNP |
| 19 | g.54939152T= | CA2343150739 | NLRP7 | c.1667A= (p.His556=) c.1751A= (p.His584=) n.2185A= | |
| 19 | g.54939153G>A | CA407861484 | NLRP7 | c.1666C>T (p.His556Tyr) c.1750C>T (p.His584Tyr) n.2184C>T | dbSNP gnomAD v4 |
| 19 | g.54939153G>C | CA407861485 | NLRP7 | c.1666C>G (p.His556Asp) c.1750C>G (p.His584Asp) n.2184C>G | |
| 19 | g.54939153G= | CA2343150740 | NLRP7 | c.1666C= (p.His556=) c.1750C= (p.His584=) n.2184C= | |
| 19 | g.54939153G>T | CA407861486 | NLRP7 | c.1666C>A (p.His556Asn) c.1750C>A (p.His584Asn) n.2184C>A | gnomAD v4 |
| 19 | g.54939154T>C | CA2587198342 | NLRP7 | c.1665A>G (p.Ala555=) c.1749A>G (p.Ala583=) n.2183A>G | gnomAD v4 |
| 19 | g.54939155del | CA2736091194 | NLRP7 | c.1664del (p.Ala555AspfsTer11) c.1748del (p.Ala583AspfsTer11) n.2182del | dbSNP |
| 19 | g.54939155G>A | CA407861487 | NLRP7 | c.1664C>T (p.Ala555Val) c.1748C>T (p.Ala583Val) n.2182C>T | |
| 19 | g.54939155G>C | CA407861488 | NLRP7 | c.1664C>G (p.Ala555Gly) c.1748C>G (p.Ala583Gly) n.2182C>G | gnomAD v4 |
| 19 | g.54939155G>T | CA407861489 | NLRP7 | c.1664C>A (p.Ala555Glu) c.1748C>A (p.Ala583Glu) n.2182C>A | |
| 19 | g.54939156C>A | CA407861492 | NLRP7 | c.1663G>T (p.Ala555Ser) c.1747G>T (p.Ala583Ser) n.2181G>T | |
| 19 | g.54939156C= | CA2343150741 | NLRP7 | c.1663G= (p.Ala555=) c.1747G= (p.Ala583=) n.2181G= | |
| 19 | g.54939156C>G | CA407861490 | NLRP7 | c.1663G>C (p.Ala555Pro) c.1747G>C (p.Ala583Pro) n.2181G>C | |
| 19 | g.54939156C>T | CA407861491 | NLRP7 | c.1663G>A (p.Ala555Thr) c.1747G>A (p.Ala583Thr) n.2181G>A | |
| 19 | g.54939157T>A | CA407861493 | NLRP7 | c.1662A>T (p.Lys554Asn) c.1746A>T (p.Lys582Asn) n.2180A>T | |
| 19 | g.54939157T>G | CA407861494 | NLRP7 | c.1662A>C (p.Lys554Asn) c.1746A>C (p.Lys582Asn) n.2180A>C | |
| 19 | g.54939159dup | CA883691800 | NLRP7 | c.1662dup (p.Ala555SerfsTer7) c.1746dup (p.Ala583SerfsTer7) n.2180dup | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939158T>A | CA407861495 | NLRP7 | c.1661A>T (p.Lys554Ile) c.1745A>T (p.Lys582Ile) n.2179A>T | |
| 19 | g.54939158T>C | CA407861496 | NLRP7 | c.1661A>G (p.Lys554Arg) c.1745A>G (p.Lys582Arg) n.2179A>G | gnomAD v4 |
| 19 | g.54939158T>G | CA407861497 | NLRP7 | c.1661A>C (p.Lys554Thr) c.1745A>C (p.Lys582Thr) n.2179A>C | |
| 19 | g.54939159T>A | CA407861498 | NLRP7 | c.1660A>T (p.Lys554Ter) c.1744A>T (p.Lys582Ter) n.2178A>T | |
| 19 | g.54939159T>C | CA407861499 | NLRP7 | c.1660A>G (p.Lys554Glu) c.1744A>G (p.Lys582Glu) n.2178A>G | |
| 19 | g.54939159T>G | CA407861500 | NLRP7 | c.1660A>C (p.Lys554Gln) c.1744A>C (p.Lys582Gln) n.2178A>C | |
| 19 | g.54939160G>C | CA407861501 | NLRP7 | c.1659C>G (p.Cys553Trp) c.1743C>G (p.Cys581Trp) n.2177C>G | |
| 19 | g.54939160G= | CA2343150742 | NLRP7 | c.1659C= (p.Cys553=) c.1743C= (p.Cys581=) n.2177C= | |
| 19 | g.54939160G>T | CA310017523 | NLRP7 | c.1659C>A (p.Cys553Ter) c.1743C>A (p.Cys581Ter) n.2177C>A | dbSNP gnomAD v4 |
| 19 | g.54939161C>A | CA407861503 | NLRP7 | c.1658G>T (p.Cys553Phe) c.1742G>T (p.Cys581Phe) n.2176G>T | |
| 19 | g.54939161C>G | CA407861504 | NLRP7 | c.1658G>C (p.Cys553Ser) c.1742G>C (p.Cys581Ser) n.2176G>C | |
| 19 | g.54939161C>T | CA407861502 | NLRP7 | c.1658G>A (p.Cys553Tyr) c.1742G>A (p.Cys581Tyr) n.2176G>A | gnomAD v4 |
| 19 | g.54939162A= | CA2343150743 | NLRP7 | c.1657T= (p.Cys553=) c.1741T= (p.Cys581=) n.2175T= | |
| 19 | g.54939162A>C | CA407861505 | NLRP7 | c.1657T>G (p.Cys553Gly) c.1741T>G (p.Cys581Gly) n.2175T>G | |
| 19 | g.54939162A>G | CA407861506 | NLRP7 | c.1657T>C (p.Cys553Arg) c.1741T>C (p.Cys581Arg) n.2175T>C | gnomAD v4 |
| 19 | g.54939162A>T | CA407861507 | NLRP7 | c.1657T>A (p.Cys553Ser) c.1741T>A (p.Cys581Ser) n.2175T>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939163T>A | CA407861508 | NLRP7 | c.1656A>T (p.Gln552His) c.1740A>T (p.Gln580His) n.2174A>T | dbSNP |
| 19 | g.54939163T>C | CA2343150745 | NLRP7 | c.1656A>G (p.Gln552=) c.1740A>G (p.Gln580=) n.2174A>G | dbSNP gnomAD v4 |
| 19 | g.54939163T>G | CA407861509 | NLRP7 | c.1656A>C (p.Gln552His) c.1740A>C (p.Gln580His) n.2174A>C | gnomAD v4 |
| 19 | g.54939163T= | CA2343150744 | NLRP7 | c.1656A= (p.Gln552=) c.1740A= (p.Gln580=) n.2174A= | |
| 19 | g.54939164T>A | CA407861510 | NLRP7 | c.1655A>T (p.Gln552Leu) c.1739A>T (p.Gln580Leu) n.2173A>T | |
| 19 | g.54939164T>C | CA310017525 | NLRP7 | c.1655A>G (p.Gln552Arg) c.1739A>G (p.Gln580Arg) n.2173A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939164T>G | CA407861511 | NLRP7 | c.1655A>C (p.Gln552Pro) c.1739A>C (p.Gln580Pro) n.2173A>C | |
| 19 | g.54939164T= | CA2343150746 | NLRP7 | c.1655A= (p.Gln552=) c.1739A= (p.Gln580=) n.2173A= | |
| 19 | g.54939165G>A | CA407861512 | NLRP7 | c.1654C>T (p.Gln552Ter) c.1738C>T (p.Gln580Ter) n.2172C>T | gnomAD v4 |
| 19 | g.54939165G>C | CA407861513 | NLRP7 | c.1654C>G (p.Gln552Glu) c.1738C>G (p.Gln580Glu) n.2172C>G | dbSNP |
| 19 | g.54939165G= | CA2343150747 | NLRP7 | c.1654C= (p.Gln552=) c.1738C= (p.Gln580=) n.2172C= | |
| 19 | g.54939165G>T | CA407861514 | NLRP7 | c.1654C>A (p.Gln552Lys) c.1738C>A (p.Gln580Lys) n.2172C>A | dbSNP gnomAD v4 COSMIC COSMIC |
| 19 | g.54939167A>C | CA407861515 | NLRP7 | c.1652T>G (p.Leu551Arg) c.1736T>G (p.Leu579Arg) n.2170T>G | |
| 19 | g.54939167A>G | CA407861516 | NLRP7 | c.1652T>C (p.Leu551Pro) c.1736T>C (p.Leu579Pro) n.2170T>C | |
| 19 | g.54939167A>T | CA407861517 | NLRP7 | c.1652T>A (p.Leu551Gln) c.1736T>A (p.Leu579Gln) n.2170T>A | |
| 19 | g.54939168G>A | CA645620180 | NLRP7 | c.1651C>T (p.Leu551=) c.1735C>T (p.Leu579=) n.2169C>T | dbSNP gnomAD v4 COSMIC COSMIC |
| 19 | g.54939168G>C | CA407861518 | NLRP7 | c.1651C>G (p.Leu551Val) c.1735C>G (p.Leu579Val) n.2169C>G | |
| 19 | g.54939168G= | CA2343150748 | NLRP7 | c.1651C= (p.Leu551=) c.1735C= (p.Leu579=) n.2169C= | |
| 19 | g.54939168G>T | CA407861519 | NLRP7 | c.1651C>A (p.Leu551Met) c.1735C>A (p.Leu579Met) n.2169C>A | |
| 19 | g.54939169C>A | CA407861520 | NLRP7 | c.1650G>T (p.Leu550Phe) c.1734G>T (p.Leu578Phe) n.2168G>T | |
| 19 | g.54939169C>G | CA407861521 | NLRP7 | c.1650G>C (p.Leu550Phe) c.1734G>C (p.Leu578Phe) n.2168G>C | |
| 19 | g.54939170A>C | CA407861522 | NLRP7 | c.1649T>G (p.Leu550Trp) c.1733T>G (p.Leu578Trp) n.2167T>G | gnomAD v4 |
| 19 | g.54939170A>G | CA407861523 | NLRP7 | c.1649T>C (p.Leu550Ser) c.1733T>C (p.Leu578Ser) n.2167T>C | |
| 19 | g.54939170A>T | CA407861524 | NLRP7 | c.1649T>A (p.Leu550Ter) c.1733T>A (p.Leu578Ter) n.2167T>A | |
| 19 | g.54939171A= | CA2343150749 | NLRP7 | c.1648T= (p.Leu550=) c.1732T= (p.Leu578=) n.2166T= | |
| 19 | g.54939171A>C | CA407861525 | NLRP7 | c.1648T>G (p.Leu550Val) c.1732T>G (p.Leu578Val) n.2166T>G | dbSNP gnomAD v4 |
| 19 | g.54939171A>G | CA2587198345 | NLRP7 | c.1648T>C (p.Leu550=) c.1732T>C (p.Leu578=) n.2166T>C | gnomAD v4 |
| 19 | g.54939171A>T | CA407861526 | NLRP7 | c.1648T>A (p.Leu550Met) c.1732T>A (p.Leu578Met) n.2166T>A | |
| 19 | g.54939172T>A | CA407861527 | NLRP7 | c.1647A>T (p.Glu549Asp) c.1731A>T (p.Glu577Asp) n.2165A>T | |
| 19 | g.54939172T>G | CA407861528 | NLRP7 | c.1647A>C (p.Glu549Asp) c.1731A>C (p.Glu577Asp) n.2165A>C | |
| 19 | g.54939173T>A | CA407861529 | NLRP7 | c.1646A>T (p.Glu549Val) c.1730A>T (p.Glu577Val) n.2164A>T | |
| 19 | g.54939173T>C | CA407861530 | NLRP7 | c.1646A>G (p.Glu549Gly) c.1730A>G (p.Glu577Gly) n.2164A>G | |
| 19 | g.54939173T>G | CA407861531 | NLRP7 | c.1646A>C (p.Glu549Ala) c.1730A>C (p.Glu577Ala) n.2164A>C | |
| 19 | g.54939174C>A | CA407861534 | NLRP7 | c.1645G>T (p.Glu549Ter) c.1729G>T (p.Glu577Ter) n.2163G>T | |
| 19 | g.54939174C>G | CA407861533 | NLRP7 | c.1645G>C (p.Glu549Gln) c.1729G>C (p.Glu577Gln) n.2163G>C | |
| 19 | g.54939174C>T | CA407861532 | NLRP7 | c.1645G>A (p.Glu549Lys) c.1729G>A (p.Glu577Lys) n.2163G>A | COSMIC COSMIC COSMIC |
| 19 | g.54939175C>A | CA407861535 | NLRP7 | c.1644G>T (p.Gln548His) c.1728G>T (p.Gln576His) n.2162G>T | |
| 19 | g.54939175C>G | CA407861536 | NLRP7 | c.1644G>C (p.Gln548His) c.1728G>C (p.Gln576His) n.2162G>C | |
| 19 | g.54939176T>A | CA407861537 | NLRP7 | c.1643A>T (p.Gln548Leu) c.1727A>T (p.Gln576Leu) n.2161A>T | |
| 19 | g.54939176T>C | CA407861539 | NLRP7 | c.1643A>G (p.Gln548Arg) c.1727A>G (p.Gln576Arg) n.2161A>G | |
| 19 | g.54939176T>G | CA407861538 | NLRP7 | c.1643A>C (p.Gln548Pro) c.1727A>C (p.Gln576Pro) n.2161A>C | |
| 19 | g.54939177G>A | CA407861540 | NLRP7 | c.1642C>T (p.Gln548Ter) c.1726C>T (p.Gln576Ter) n.2160C>T | |
| 19 | g.54939177G>C | CA407861541 | NLRP7 | c.1642C>G (p.Gln548Glu) c.1726C>G (p.Gln576Glu) n.2160C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939177G= | CA2343150750 | NLRP7 | c.1642C= (p.Gln548=) c.1726C= (p.Gln576=) n.2160C= | |
| 19 | g.54939177G>T | CA407861542 | NLRP7 | c.1642C>A (p.Gln548Lys) c.1726C>A (p.Gln576Lys) n.2160C>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939178T>A | CA407861543 | NLRP7 | c.1641A>T (p.Lys547Asn) c.1725A>T (p.Lys575Asn) n.2159A>T | |
| 19 | g.54939178T>G | CA407861544 | NLRP7 | c.1641A>C (p.Lys547Asn) c.1725A>C (p.Lys575Asn) n.2159A>C | |
| 19 | g.54939179T>A | CA407861545 | NLRP7 | c.1640A>T (p.Lys547Ile) c.1724A>T (p.Lys575Ile) n.2158A>T | |
| 19 | g.54939179T>C | CA407861546 | NLRP7 | c.1640A>G (p.Lys547Arg) c.1724A>G (p.Lys575Arg) n.2158A>G | |
| 19 | g.54939179T>G | CA407861547 | NLRP7 | c.1640A>C (p.Lys547Thr) c.1724A>C (p.Lys575Thr) n.2158A>C | |
| 19 | g.54939180T>A | CA407861548 | NLRP7 | c.1639A>T (p.Lys547Ter) c.1723A>T (p.Lys575Ter) n.2157A>T | |
| 19 | g.54939180T>C | CA407861549 | NLRP7 | c.1639A>G (p.Lys547Glu) c.1723A>G (p.Lys575Glu) n.2157A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939180T>G | CA407861550 | NLRP7 | c.1639A>C (p.Lys547Gln) c.1723A>C (p.Lys575Gln) n.2157A>C | |
| 19 | g.54939180T= | CA2343150751 | NLRP7 | c.1639A= (p.Lys547=) c.1723A= (p.Lys575=) n.2157A= | |
| 19 | g.54939181G>C | CA407861551 | NLRP7 | c.1638C>G (p.Ile546Met) c.1722C>G (p.Ile574Met) n.2156C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939181G= | CA2343150752 | NLRP7 | c.1638C= (p.Ile546=) c.1722C= (p.Ile574=) n.2156C= | |
| 19 | g.54939182A>C | CA407861554 | NLRP7 | c.1637T>G (p.Ile546Ser) c.1721T>G (p.Ile574Ser) n.2155T>G | |
| 19 | g.54939182A>G | CA407861552 | NLRP7 | c.1637T>C (p.Ile546Thr) c.1721T>C (p.Ile574Thr) n.2155T>C | |
| 19 | g.54939182A>T | CA407861553 | NLRP7 | c.1637T>A (p.Ile546Asn) c.1721T>A (p.Ile574Asn) n.2155T>A | |
| 19 | g.54939183T>A | CA407861555 | NLRP7 | c.1636A>T (p.Ile546Phe) c.1720A>T (p.Ile574Phe) n.2154A>T | |
| 19 | g.54939183T>C | CA407861556 | NLRP7 | c.1636A>G (p.Ile546Val) c.1720A>G (p.Ile574Val) n.2154A>G | gnomAD v4 |
| 19 | g.54939183T>G | CA407861557 | NLRP7 | c.1636A>C (p.Ile546Leu) c.1720A>C (p.Ile574Leu) n.2154A>C | |
| 19 | g.54939184G>A | CA2343150754 | NLRP7 | c.1635C>T (p.Asp545=) c.1719C>T (p.Asp573=) n.2153C>T | dbSNP |
| 19 | g.54939184G>C | CA407861558 | NLRP7 | c.1635C>G (p.Asp545Glu) c.1719C>G (p.Asp573Glu) n.2153C>G | |
| 19 | g.54939184G= | CA2343150753 | NLRP7 | c.1635C= (p.Asp545=) c.1719C= (p.Asp573=) n.2153C= | |
| 19 | g.54939184G>T | CA407861559 | NLRP7 | c.1635C>A (p.Asp545Glu) c.1719C>A (p.Asp573Glu) n.2153C>A | |
| 19 | g.54939185T>A | CA407861560 | NLRP7 | c.1634A>T (p.Asp545Val) c.1718A>T (p.Asp573Val) n.2152A>T | |
| 19 | g.54939185T>C | CA407861561 | NLRP7 | c.1634A>G (p.Asp545Gly) c.1718A>G (p.Asp573Gly) n.2152A>G | gnomAD v4 |
| 19 | g.54939185T>G | CA407861562 | NLRP7 | c.1634A>C (p.Asp545Ala) c.1718A>C (p.Asp573Ala) n.2152A>C | |
| 19 | g.54939186C>A | CA407861563 | NLRP7 | c.1633G>T (p.Asp545Tyr) c.1717G>T (p.Asp573Tyr) n.2151G>T | |
| 19 | g.54939186C>G | CA407861564 | NLRP7 | c.1633G>C (p.Asp545His) c.1717G>C (p.Asp573His) n.2151G>C | |
| 19 | g.54939186C>T | CA407861565 | NLRP7 | c.1633G>A (p.Asp545Asn) c.1717G>A (p.Asp573Asn) n.2151G>A | COSMIC COSMIC COSMIC |
| 19 | g.54939187C>A | CA883691838 | NLRP7 | c.1632G>T (p.Pro544=) c.1716G>T (p.Pro572=) n.2150G>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939187C= | CA2343150755 | NLRP7 | c.1632G= (p.Pro544=) c.1716G= (p.Pro572=) n.2150G= | |
| 19 | g.54939187C>T | CA310017526 | NLRP7 | c.1632G>A (p.Pro544=) c.1716G>A (p.Pro572=) n.2150G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939188G>A | CA407861568 | NLRP7 | c.1631C>T (p.Pro544Leu) c.1715C>T (p.Pro572Leu) n.2149C>T | dbSNP gnomAD v4 |
| 19 | g.54939188G>C | CA407861566 | NLRP7 | c.1631C>G (p.Pro544Arg) c.1715C>G (p.Pro572Arg) n.2149C>G | |
| 19 | g.54939188G= | CA2343150756 | NLRP7 | c.1631C= (p.Pro544=) c.1715C= (p.Pro572=) n.2149C= | |
| 19 | g.54939188G>T | CA407861567 | NLRP7 | c.1631C>A (p.Pro544Gln) c.1715C>A (p.Pro572Gln) n.2149C>A | |
| 19 | g.54939189G>A | CA407861569 | NLRP7 | c.1630C>T (p.Pro544Ser) c.1714C>T (p.Pro572Ser) n.2148C>T | gnomAD v4 COSMIC COSMIC COSMIC |
| 19 | g.54939189G>C | CA407861570 | NLRP7 | c.1630C>G (p.Pro544Ala) c.1714C>G (p.Pro572Ala) n.2148C>G | COSMIC COSMIC COSMIC |
| 19 | g.54939189G>T | CA407861571 | NLRP7 | c.1630C>A (p.Pro544Thr) c.1714C>A (p.Pro572Thr) n.2148C>A | |
| 19 | g.54939190T>A | CA2736091250 | NLRP7 | c.1629A>T (p.Ser543=) c.1713A>T (p.Ser571=) n.2147A>T | dbSNP |
| 19 | g.54939190T>C | CA2576889869 | NLRP7 | c.1629A>G (p.Ser543=) c.1713A>G (p.Ser571=) n.2147A>G | |
| 19 | g.54939191G>A | CA407861574 | NLRP7 | c.1628C>T (p.Ser543Leu) c.1712C>T (p.Ser571Leu) n.2146C>T | gnomAD v4 |
| 19 | g.54939191G>C | CA407861573 | NLRP7 | c.1628C>G (p.Ser543Ter) c.1712C>G (p.Ser571Ter) n.2146C>G | |
| 19 | g.54939191G>T | CA407861572 | NLRP7 | c.1628C>A (p.Ser543Ter) c.1712C>A (p.Ser571Ter) n.2146C>A | |
| 19 | g.54939192A>C | CA407861575 | NLRP7 | c.1627T>G (p.Ser543Ala) c.1711T>G (p.Ser571Ala) n.2145T>G | |
| 19 | g.54939192A>G | CA407861576 | NLRP7 | c.1627T>C (p.Ser543Pro) c.1711T>C (p.Ser571Pro) n.2145T>C | |
| 19 | g.54939192A>T | CA407861577 | NLRP7 | c.1627T>A (p.Ser543Thr) c.1711T>A (p.Ser571Thr) n.2145T>A | gnomAD v4 |
| 19 | g.54939193C>A | CA407861578 | NLRP7 | c.1626G>T (p.Met542Ile) c.1710G>T (p.Met570Ile) n.2144G>T | |
| 19 | g.54939193C>G | CA407861579 | NLRP7 | c.1626G>C (p.Met542Ile) c.1710G>C (p.Met570Ile) n.2144G>C | |
| 19 | g.54939193C>T | CA407861580 | NLRP7 | c.1626G>A (p.Met542Ile) c.1710G>A (p.Met570Ile) n.2144G>A | gnomAD v4 |
| 19 | g.54939194A>C | CA407861581 | NLRP7 | c.1625T>G (p.Met542Arg) c.1709T>G (p.Met570Arg) n.2143T>G | |
| 19 | g.54939194A>G | CA407861583 | NLRP7 | c.1625T>C (p.Met542Thr) c.1709T>C (p.Met570Thr) n.2143T>C | gnomAD v4 |
| 19 | g.54939194A>T | CA407861582 | NLRP7 | c.1625T>A (p.Met542Lys) c.1709T>A (p.Met570Lys) n.2143T>A | COSMIC COSMIC |
| 19 | g.54939195T>A | CA407861584 | NLRP7 | c.1624A>T (p.Met542Leu) c.1708A>T (p.Met570Leu) n.2142A>T | |
| 19 | g.54939195T>C | CA407861585 | NLRP7 | c.1624A>G (p.Met542Val) c.1708A>G (p.Met570Val) n.2142A>G | |
| 19 | g.54939195T>G | CA310017528 | NLRP7 | c.1624A>C (p.Met542Leu) c.1708A>C (p.Met570Leu) n.2142A>C | dbSNP gnomAD v4 |
| 19 | g.54939195T= | CA2343150757 | NLRP7 | c.1624A= (p.Met542=) c.1708A= (p.Met570=) n.2142A= | |
| 19 | g.54939196C= | CA2343150758 | NLRP7 | c.1623G= (p.Arg541=) c.1707G= (p.Arg569=) n.2141G= | |
| 19 | g.54939196C>G | CA883691859 | NLRP7 | c.1623G>C (p.Arg541=) c.1707G>C (p.Arg569=) n.2141G>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939196C>T | CA645620181 | NLRP7 | c.1623G>A (p.Arg541=) c.1707G>A (p.Arg569=) n.2141G>A | gnomAD v4 COSMIC COSMIC COSMIC |
| 19 | g.54939197C>A | CA407861586 | NLRP7 | c.1622G>T (p.Arg541Leu) c.1706G>T (p.Arg569Leu) n.2140G>T | |
| 19 | g.54939197C= | CA2343150759 | NLRP7 | c.1622G= (p.Arg541=) c.1706G= (p.Arg569=) n.2140G= | |
| 19 | g.54939197C>G | CA407861587 | NLRP7 | c.1622G>C (p.Arg541Pro) c.1706G>C (p.Arg569Pro) n.2140G>C | |
| 19 | g.54939197C>T | CA310017530 | NLRP7 | c.1622G>A (p.Arg541Gln) c.1706G>A (p.Arg569Gln) n.2140G>A | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 19 | g.54939198G>A | CA407861588 | NLRP7 | c.1621C>T (p.Arg541Trp) c.1705C>T (p.Arg569Trp) n.2139C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939198G>C | CA407861589 | NLRP7 | c.1621C>G (p.Arg541Gly) c.1705C>G (p.Arg569Gly) n.2139C>G | |
| 19 | g.54939198G= | CA2343150760 | NLRP7 | c.1621C= (p.Arg541=) c.1705C= (p.Arg569=) n.2139C= | |
| 19 | g.54939199G>A | CA883691871 | NLRP7 | c.1620C>T (p.Cys540=) c.1704C>T (p.Cys568=) n.2138C>T | dbSNP gnomAD v4 |
| 19 | g.54939199G>C | CA407861590 | NLRP7 | c.1620C>G (p.Cys540Trp) c.1704C>G (p.Cys568Trp) n.2138C>G | |
| 19 | g.54939199G= | CA2343150761 | NLRP7 | c.1620C= (p.Cys540=) c.1704C= (p.Cys568=) n.2138C= | |
| 19 | g.54939199G>T | CA407861591 | NLRP7 | c.1620C>A (p.Cys540Ter) c.1704C>A (p.Cys568Ter) n.2138C>A | |
| 19 | g.54939200C>A | CA407861594 | NLRP7 | c.1619G>T (p.Cys540Phe) c.1703G>T (p.Cys568Phe) n.2137G>T | |
| 19 | g.54939200C>G | CA407861593 | NLRP7 | c.1619G>C (p.Cys540Ser) c.1703G>C (p.Cys568Ser) n.2137G>C | |
| 19 | g.54939200C>T | CA407861592 | NLRP7 | c.1619G>A (p.Cys540Tyr) c.1703G>A (p.Cys568Tyr) n.2137G>A | |
| 19 | g.54939201A>C | CA407861595 | NLRP7 | c.1618T>G (p.Cys540Gly) c.1702T>G (p.Cys568Gly) n.2136T>G | |
| 19 | g.54939201A>G | CA407861597 | NLRP7 | c.1618T>C (p.Cys540Arg) c.1702T>C (p.Cys568Arg) n.2136T>C | |
| 19 | g.54939201A>T | CA407861596 | NLRP7 | c.1618T>A (p.Cys540Ser) c.1702T>A (p.Cys568Ser) n.2136T>A | |
| 19 | g.54939203C>A | CA407861598 | NLRP7 | c.1616G>T (p.Gly539Val) c.1700G>T (p.Gly567Val) n.2134G>T | |
| 19 | g.54939203C>G | CA407861599 | NLRP7 | c.1616G>C (p.Gly539Ala) c.1700G>C (p.Gly567Ala) n.2134G>C | |
| 19 | g.54939203C>T | CA407861600 | NLRP7 | c.1616G>A (p.Gly539Asp) c.1700G>A (p.Gly567Asp) n.2134G>A | COSMIC COSMIC COSMIC |
| 19 | g.54939204C>A | CA407861601 | NLRP7 | c.1615G>T (p.Gly539Cys) c.1699G>T (p.Gly567Cys) n.2133G>T | |
| 19 | g.54939204C>G | CA407861602 | NLRP7 | c.1615G>C (p.Gly539Arg) c.1699G>C (p.Gly567Arg) n.2133G>C | |
| 19 | g.54939204C>T | CA407861603 | NLRP7 | c.1615G>A (p.Gly539Ser) c.1699G>A (p.Gly567Ser) n.2133G>A | |
| 19 | g.54939205A= | CA2343150762 | NLRP7 | c.1614T= (p.Phe538=) c.1698T= (p.Phe566=) n.2132T= | |
| 19 | g.54939205A>C | CA407861604 | NLRP7 | c.1614T>G (p.Phe538Leu) c.1698T>G (p.Phe566Leu) n.2132T>G | |
| 19 | g.54939205A>G | CA883691893 | NLRP7 | c.1614T>C (p.Phe538=) c.1698T>C (p.Phe566=) n.2132T>C | dbSNP gnomAD v4 |
| 19 | g.54939205A>T | CA310017533 | NLRP7 | c.1614T>A (p.Phe538Leu) c.1698T>A (p.Phe566Leu) n.2132T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939206A>C | CA407861605 | NLRP7 | c.1613T>G (p.Phe538Cys) c.1697T>G (p.Phe566Cys) n.2131T>G | |
| 19 | g.54939206A>G | CA407861606 | NLRP7 | c.1613T>C (p.Phe538Ser) c.1697T>C (p.Phe566Ser) n.2131T>C | |
| 19 | g.54939206A>T | CA407861607 | NLRP7 | c.1613T>A (p.Phe538Tyr) c.1697T>A (p.Phe566Tyr) n.2131T>A | |
| 19 | g.54939207A>C | CA407861610 | NLRP7 | c.1612T>G (p.Phe538Val) c.1696T>G (p.Phe566Val) n.2130T>G | gnomAD v4 |
| 19 | g.54939207A>G | CA407861609 | NLRP7 | c.1612T>C (p.Phe538Leu) c.1696T>C (p.Phe566Leu) n.2130T>C | |
| 19 | g.54939207A>T | CA407861608 | NLRP7 | c.1612T>A (p.Phe538Ile) c.1696T>A (p.Phe566Ile) n.2130T>A | |
| 19 | g.54939209G>A | CA407861611 | NLRP7 | c.1610C>T (p.Thr537Ile) c.1694C>T (p.Thr565Ile) n.2128C>T | |
| 19 | g.54939209G>C | CA407861612 | NLRP7 | c.1610C>G (p.Thr537Ser) c.1694C>G (p.Thr565Ser) n.2128C>G | |
| 19 | g.54939209G>T | CA407861613 | NLRP7 | c.1610C>A (p.Thr537Asn) c.1694C>A (p.Thr565Asn) n.2128C>A | |
| 19 | g.54939210T>A | CA407861614 | NLRP7 | c.1609A>T (p.Thr537Ser) c.1693A>T (p.Thr565Ser) n.2127A>T | |
| 19 | g.54939210T>C | CA310017548 | NLRP7 | c.1609A>G (p.Thr537Ala) c.1693A>G (p.Thr565Ala) n.2127A>G | dbSNP gnomAD v4 |
| 19 | g.54939210T>G | CA407861615 | NLRP7 | c.1609A>C (p.Thr537Pro) c.1693A>C (p.Thr565Pro) n.2127A>C | |
| 19 | g.54939210T= | CA2343150763 | NLRP7 | c.1609A= (p.Thr537=) c.1693A= (p.Thr565=) n.2127A= | |
| 19 | g.54939211G>T | CA2814873267 | NLRP7 | c.1608C>A (p.Ala536=) c.1692C>A (p.Ala564=) n.2126C>A | |
| 19 | g.54939212G>A | CA407861616 | NLRP7 | c.1607C>T (p.Ala536Val) c.1691C>T (p.Ala564Val) n.2125C>T | gnomAD v4 |
| 19 | g.54939212G>C | CA407861617 | NLRP7 | c.1607C>G (p.Ala536Gly) c.1691C>G (p.Ala564Gly) n.2125C>G | |
| 19 | g.54939212G>T | CA407861618 | NLRP7 | c.1607C>A (p.Ala536Asp) c.1691C>A (p.Ala564Asp) n.2125C>A | |
| 19 | g.54939212_54939215delinsGCCT | CA2343150764 | NLRP7 | c.1604_1607delinsAGGC (p.Glu535=) c.1688_1691delinsAGGC (p.Glu563=) n.2122_2125delinsAGGC | |
| 19 | g.54939213C>A | CA407861619 | NLRP7 | c.1606G>T (p.Ala536Ser) c.1690G>T (p.Ala564Ser) n.2124G>T | |
| 19 | g.54939213C= | CA2343150765 | NLRP7 | c.1606G= (p.Ala536=) c.1690G= (p.Ala564=) n.2124G= | |
| 19 | g.54939213C>G | CA407861620 | NLRP7 | c.1606G>C (p.Ala536Pro) c.1690G>C (p.Ala564Pro) n.2124G>C | |
| 19 | g.54939213C>T | CA310017555 | NLRP7 | c.1606G>A (p.Ala536Thr) c.1690G>A (p.Ala564Thr) n.2124G>A | dbSNP COSMIC COSMIC COSMIC |
| 19 | g.54939215_54939217del | CA883691933 | NLRP7 | c.1604_1606del (p.Glu535del) c.1688_1690del (p.Glu563del) n.2122_2124del | dbSNP gnomAD v4 |
| 19 | g.54939214C>A | CA407861622 | NLRP7 | c.1605G>T (p.Glu535Asp) c.1689G>T (p.Glu563Asp) n.2123G>T | |
| 19 | g.54939214C= | CA2343150766 | NLRP7 | c.1605G= (p.Glu535=) c.1689G= (p.Glu563=) n.2123G= | |
| 19 | g.54939214C>G | CA407861621 | NLRP7 | c.1605G>C (p.Glu535Asp) c.1689G>C (p.Glu563Asp) n.2123G>C | |
| 19 | g.54939214C>T | CA310017573 | NLRP7 | c.1605G>A (p.Glu535=) c.1689G>A (p.Glu563=) n.2123G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939215T>A | CA407861623 | NLRP7 | c.1604A>T (p.Glu535Val) c.1688A>T (p.Glu563Val) n.2122A>T | |
| 19 | g.54939215T>C | CA407861624 | NLRP7 | c.1604A>G (p.Glu535Gly) c.1688A>G (p.Glu563Gly) n.2122A>G | |
| 19 | g.54939215T>G | CA407861625 | NLRP7 | c.1604A>C (p.Glu535Ala) c.1688A>C (p.Glu563Ala) n.2122A>C | dbSNP gnomAD v4 |
| 19 | g.54939215T= | CA2343150767 | NLRP7 | c.1604A= (p.Glu535=) c.1688A= (p.Glu563=) n.2122A= | |
| 19 | g.54939216C>A | CA407861626 | NLRP7 | c.1603G>T (p.Glu535Ter) c.1687G>T (p.Glu563Ter) n.2121G>T | gnomAD v4 |
| 19 | g.54939216C>G | CA407861627 | NLRP7 | c.1603G>C (p.Glu535Gln) c.1687G>C (p.Glu563Gln) n.2121G>C | |
| 19 | g.54939216C>T | CA407861628 | NLRP7 | c.1603G>A (p.Glu535Lys) c.1687G>A (p.Glu563Lys) n.2121G>A | |
| 19 | g.54939217C>A | CA407861629 | NLRP7 | c.1602G>T (p.Leu534Phe) c.1686G>T (p.Leu562Phe) n.2120G>T | |
| 19 | g.54939217C>G | CA407861630 | NLRP7 | c.1602G>C (p.Leu534Phe) c.1686G>C (p.Leu562Phe) n.2120G>C | |
| 19 | g.54939218A>C | CA407861631 | NLRP7 | c.1601T>G (p.Leu534Trp) c.1685T>G (p.Leu562Trp) n.2119T>G | |
| 19 | g.54939218A>G | CA407861632 | NLRP7 | c.1601T>C (p.Leu534Ser) c.1685T>C (p.Leu562Ser) n.2119T>C | |
| 19 | g.54939218A>T | CA407861633 | NLRP7 | c.1601T>A (p.Leu534Ter) c.1685T>A (p.Leu562Ter) n.2119T>A | |
| 19 | g.54939219A= | CA2343150768 | NLRP7 | c.1600T= (p.Leu534=) c.1684T= (p.Leu562=) n.2118T= | |
| 19 | g.54939219A>C | CA407861634 | NLRP7 | c.1600T>G (p.Leu534Val) c.1684T>G (p.Leu562Val) n.2118T>G | |
| 19 | g.54939219A>G | CA310017604 | NLRP7 | c.1600T>C (p.Leu534=) c.1684T>C (p.Leu562=) n.2118T>C | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 19 | g.54939219A>T | CA407861635 | NLRP7 | c.1600T>A (p.Leu534Met) c.1684T>A (p.Leu562Met) n.2118T>A | |
| 19 | g.54939220C>A | CA407861636 | NLRP7 | c.1599G>T (p.Glu533Asp) c.1683G>T (p.Glu561Asp) n.2117G>T | |
| 19 | g.54939220C= | CA2343150770 | NLRP7 | c.1599G= (p.Glu533=) c.1683G= (p.Glu561=) n.2117G= | |
| 19 | g.54939220C>G | CA407861637 | NLRP7 | c.1599G>C (p.Glu533Asp) c.1683G>C (p.Glu561Asp) n.2117G>C | |
| 19 | g.54939220C>T | CA2343150769 | NLRP7 | c.1599G>A (p.Glu533=) c.1683G>A (p.Glu561=) n.2117G>A | dbSNP gnomAD v4 |
| 19 | g.54939221T>A | CA407861638 | NLRP7 | c.1598A>T (p.Glu533Val) c.1682A>T (p.Glu561Val) n.2116A>T | |
| 19 | g.54939221T>C | CA407861639 | NLRP7 | c.1598A>G (p.Glu533Gly) c.1682A>G (p.Glu561Gly) n.2116A>G | |
| 19 | g.54939221T>G | CA310017611 | NLRP7 | c.1598A>C (p.Glu533Ala) c.1682A>C (p.Glu561Ala) n.2116A>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939221T= | CA2343150771 | NLRP7 | c.1598A= (p.Glu533=) c.1682A= (p.Glu561=) n.2116A= | |
| 19 | g.54939222C>A | CA407861640 | NLRP7 | c.1597G>T (p.Glu533Ter) c.1681G>T (p.Glu561Ter) n.2115G>T | |
| 19 | g.54939222C>G | CA407861641 | NLRP7 | c.1597G>C (p.Glu533Gln) c.1681G>C (p.Glu561Gln) n.2115G>C | COSMIC COSMIC COSMIC |
| 19 | g.54939222C>T | CA407861642 | NLRP7 | c.1597G>A (p.Glu533Lys) c.1681G>A (p.Glu561Lys) n.2115G>A | COSMIC COSMIC COSMIC |
| 19 | g.54939223C>A | CA407861643 | NLRP7 | c.1596G>T (p.Lys532Asn) c.1680G>T (p.Lys560Asn) n.2114G>T | |
| 19 | g.54939223C= | CA2343150772 | NLRP7 | c.1596G= (p.Lys532=) c.1680G= (p.Lys560=) n.2114G= | |
| 19 | g.54939223C>G | CA407861644 | NLRP7 | c.1596G>C (p.Lys532Asn) c.1680G>C (p.Lys560Asn) n.2114G>C | |
| 19 | g.54939223C>T | CA310017617 | NLRP7 | c.1596G>A (p.Lys532=) c.1680G>A (p.Lys560=) n.2114G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939224T>A | CA407861645 | NLRP7 | c.1595A>T (p.Lys532Met) c.1679A>T (p.Lys560Met) n.2113A>T | |
| 19 | g.54939224T>C | CA407861646 | NLRP7 | c.1595A>G (p.Lys532Arg) c.1679A>G (p.Lys560Arg) n.2113A>G | |
| 19 | g.54939224T>G | CA407861647 | NLRP7 | c.1595A>C (p.Lys532Thr) c.1679A>C (p.Lys560Thr) n.2113A>C | |
| 19 | g.54939225T>A | CA407861649 | NLRP7 | c.1594A>T (p.Lys532Ter) c.1678A>T (p.Lys560Ter) n.2112A>T | |
| 19 | g.54939225T>C | CA407861650 | NLRP7 | c.1594A>G (p.Lys532Glu) c.1678A>G (p.Lys560Glu) n.2112A>G | |
| 19 | g.54939225T>G | CA407861648 | NLRP7 | c.1594A>C (p.Lys532Gln) c.1678A>C (p.Lys560Gln) n.2112A>C | |
| 19 | g.54939227G>A | CA407861652 | NLRP7 | c.1592C>T (p.Ala531Val) c.1676C>T (p.Ala559Val) n.2110C>T | COSMIC COSMIC COSMIC |
| 19 | g.54939227G>C | CA407861651 | NLRP7 | c.1592C>G (p.Ala531Gly) c.1676C>G (p.Ala559Gly) n.2110C>G | |
| 19 | g.54939227G>T | CA407861653 | NLRP7 | c.1592C>A (p.Ala531Asp) c.1676C>A (p.Ala559Asp) n.2110C>A | gnomAD v4 |
| 19 | g.54939228C>A | CA407861654 | NLRP7 | c.1591G>T (p.Ala531Ser) c.1675G>T (p.Ala559Ser) n.2109G>T | |
| 19 | g.54939228C>G | CA407861656 | NLRP7 | c.1591G>C (p.Ala531Pro) c.1675G>C (p.Ala559Pro) n.2109G>C | |
| 19 | g.54939228C>T | CA407861655 | NLRP7 | c.1591G>A (p.Ala531Thr) c.1675G>A (p.Ala559Thr) n.2109G>A | gnomAD v4 |
| 19 | g.54939229T>A | CA407861657 | NLRP7 | c.1590A>T (p.Arg530Ser) c.1674A>T (p.Arg558Ser) n.2108A>T | |
| 19 | g.54939229T>C | CA310017618 | NLRP7 | c.1590A>G (p.Arg530=) c.1674A>G (p.Arg558=) n.2108A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939229T>G | CA407861658 | NLRP7 | c.1590A>C (p.Arg530Ser) c.1674A>C (p.Arg558Ser) n.2108A>C | |
| 19 | g.54939229T= | CA2343150773 | NLRP7 | c.1590A= (p.Arg530=) c.1674A= (p.Arg558=) n.2108A= | |
| 19 | g.54939230C>A | CA407861659 | NLRP7 | c.1589G>T (p.Arg530Ile) c.1673G>T (p.Arg558Ile) n.2107G>T | |
| 19 | g.54939230C>G | CA407861660 | NLRP7 | c.1589G>C (p.Arg530Thr) c.1673G>C (p.Arg558Thr) n.2107G>C | |
| 19 | g.54939230C>T | CA407861661 | NLRP7 | c.1589G>A (p.Arg530Lys) c.1673G>A (p.Arg558Lys) n.2107G>A | |
| 19 | g.54939231T>A | CA407861662 | NLRP7 | c.1588A>T (p.Arg530Ter) c.1672A>T (p.Arg558Ter) n.2106A>T | |
| 19 | g.54939231T>C | CA407861663 | NLRP7 | c.1588A>G (p.Arg530Gly) c.1672A>G (p.Arg558Gly) n.2106A>G | gnomAD v4 |
| 19 | g.54939232C>A | CA310017619 | NLRP7 | c.1587G>T (p.Lys529Asn) c.1671G>T (p.Lys557Asn) n.2105G>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939232C= | CA2343150774 | NLRP7 | c.1587G= (p.Lys529=) c.1671G= (p.Lys557=) n.2105G= | |
| 19 | g.54939232C>G | CA407861664 | NLRP7 | c.1587G>C (p.Lys529Asn) c.1671G>C (p.Lys557Asn) n.2105G>C | |
| 19 | g.54939233T>A | CA407861667 | NLRP7 | c.1586A>T (p.Lys529Met) c.1670A>T (p.Lys557Met) n.2104A>T | |
| 19 | g.54939233T>C | CA407861666 | NLRP7 | c.1586A>G (p.Lys529Arg) c.1670A>G (p.Lys557Arg) n.2104A>G | |
| 19 | g.54939233T>G | CA407861665 | NLRP7 | c.1586A>C (p.Lys529Thr) c.1670A>C (p.Lys557Thr) n.2104A>C | |
| 19 | g.54939234T>A | CA407861668 | NLRP7 | c.1585A>T (p.Lys529Ter) c.1669A>T (p.Lys557Ter) n.2103A>T | |
| 19 | g.54939234T>C | CA407861669 | NLRP7 | c.1585A>G (p.Lys529Glu) c.1669A>G (p.Lys557Glu) n.2103A>G | |
| 19 | g.54939234T>G | CA407861670 | NLRP7 | c.1585A>C (p.Lys529Gln) c.1669A>C (p.Lys557Gln) n.2103A>C | |
| 19 | g.54939235C>A | CA407861671 | NLRP7 | c.1584G>T (p.Glu528Asp) c.1668G>T (p.Glu556Asp) n.2102G>T | COSMIC COSMIC COSMIC |
| 19 | g.54939235C>G | CA407861672 | NLRP7 | c.1584G>C (p.Glu528Asp) c.1668G>C (p.Glu556Asp) n.2102G>C | |
| 19 | g.54939236T>A | CA407861673 | NLRP7 | c.1583A>T (p.Glu528Val) c.1667A>T (p.Glu556Val) n.2101A>T | |
| 19 | g.54939236T>C | CA407861674 | NLRP7 | c.1583A>G (p.Glu528Gly) c.1667A>G (p.Glu556Gly) n.2101A>G | |
| 19 | g.54939236T>G | CA407861675 | NLRP7 | c.1583A>C (p.Glu528Ala) c.1667A>C (p.Glu556Ala) n.2101A>C | |
| 19 | g.54939237C>A | CA407861676 | NLRP7 | c.1582G>T (p.Glu528Ter) c.1666G>T (p.Glu556Ter) n.2100G>T | |
| 19 | g.54939237C= | CA2343150775 | NLRP7 | c.1582G= (p.Glu528=) c.1666G= (p.Glu556=) n.2100G= | |
| 19 | g.54939237C>G | CA407861677 | NLRP7 | c.1582G>C (p.Glu528Gln) c.1666G>C (p.Glu556Gln) n.2100G>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939237C>T | CA310017624 | NLRP7 | c.1582G>A (p.Glu528Lys) c.1666G>A (p.Glu556Lys) n.2100G>A | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 19 | g.54939238G>A | CA310017627 | NLRP7 | c.1581C>T (p.Asn527=) c.1665C>T (p.Asn555=) n.2099C>T | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 19 | g.54939238G>C | CA407861679 | NLRP7 | c.1581C>G (p.Asn527Lys) c.1665C>G (p.Asn555Lys) n.2099C>G | gnomAD v4 |
| 19 | g.54939238G= | CA2343150776 | NLRP7 | c.1581C= (p.Asn527=) c.1665C= (p.Asn555=) n.2099C= | |
| 19 | g.54939238G>T | CA407861678 | NLRP7 | c.1581C>A (p.Asn527Lys) c.1665C>A (p.Asn555Lys) n.2099C>A | gnomAD v4 |
| 19 | g.54939239T>A | CA407861680 | NLRP7 | c.1580A>T (p.Asn527Ile) c.1664A>T (p.Asn555Ile) n.2098A>T | |
| 19 | g.54939239T>C | CA407861681 | NLRP7 | c.1580A>G (p.Asn527Ser) c.1664A>G (p.Asn555Ser) n.2098A>G | |
| 19 | g.54939239T>G | CA407861682 | NLRP7 | c.1580A>C (p.Asn527Thr) c.1664A>C (p.Asn555Thr) n.2098A>C | |
| 19 | g.54939240T>A | CA407861683 | NLRP7 | c.1579A>T (p.Asn527Tyr) c.1663A>T (p.Asn555Tyr) n.2097A>T | |
| 19 | g.54939240T>C | CA407861684 | NLRP7 | c.1579A>G (p.Asn527Asp) c.1663A>G (p.Asn555Asp) n.2097A>G | |
| 19 | g.54939240T>G | CA407861685 | NLRP7 | c.1579A>C (p.Asn527His) c.1663A>C (p.Asn555His) n.2097A>C | |
| 19 | g.54939242G>A | CA407861686 | NLRP7 | c.1577C>T (p.Ala526Val) c.1661C>T (p.Ala554Val) n.2095C>T | |
| 19 | g.54939242G>C | CA407861687 | NLRP7 | c.1577C>G (p.Ala526Gly) c.1661C>G (p.Ala554Gly) n.2095C>G | |
| 19 | g.54939242G>T | CA407861688 | NLRP7 | c.1577C>A (p.Ala526Asp) c.1661C>A (p.Ala554Asp) n.2095C>A | |
| 19 | g.54939243C>A | CA407861689 | NLRP7 | c.1576G>T (p.Ala526Ser) c.1660G>T (p.Ala554Ser) n.2094G>T | |
| 19 | g.54939243C>G | CA407861690 | NLRP7 | c.1576G>C (p.Ala526Pro) c.1660G>C (p.Ala554Pro) n.2094G>C | |
| 19 | g.54939243C>T | CA407861691 | NLRP7 | c.1576G>A (p.Ala526Thr) c.1660G>A (p.Ala554Thr) n.2094G>A | gnomAD v4 COSMIC COSMIC COSMIC |
| 19 | g.54939244G>A | CA645620182 | NLRP7 | c.1575C>T (p.Leu525=) c.1659C>T (p.Leu553=) n.2093C>T | dbSNP gnomAD v4 COSMIC |
| 19 | g.54939244G>C | CA2587198332 | NLRP7 | c.1575C>G (p.Leu525=) c.1659C>G (p.Leu553=) n.2093C>G | gnomAD v4 |
| 19 | g.54939244G= | CA2343150777 | NLRP7 | c.1575C= (p.Leu525=) c.1659C= (p.Leu553=) n.2093C= | |
| 19 | g.54939244G>T | CA2814873268 | NLRP7 | c.1575C>A (p.Leu525=) c.1659C>A (p.Leu553=) n.2093C>A | |
| 19 | g.54939245A>C | CA407861694 | NLRP7 | c.1574T>G (p.Leu525Arg) c.1658T>G (p.Leu553Arg) n.2092T>G | |
| 19 | g.54939245A>G | CA407861692 | NLRP7 | c.1574T>C (p.Leu525Pro) c.1658T>C (p.Leu553Pro) n.2092T>C | |
| 19 | g.54939245A>T | CA407861693 | NLRP7 | c.1574T>A (p.Leu525His) c.1658T>A (p.Leu553His) n.2092T>A | |
| 19 | g.54939246G>A | CA407861695 | NLRP7 | c.1573C>T (p.Leu525Phe) c.1657C>T (p.Leu553Phe) n.2091C>T | |
| 19 | g.54939246G>C | CA407861696 | NLRP7 | c.1573C>G (p.Leu525Val) c.1657C>G (p.Leu553Val) n.2091C>G | |
| 19 | g.54939246G>T | CA407861697 | NLRP7 | c.1573C>A (p.Leu525Ile) c.1657C>A (p.Leu553Ile) n.2091C>A | gnomAD v4 |
| 19 | g.54939247del | CA2587198333 | NLRP7 | c.1573del (p.Leu525SerfsTer?) c.1657del (p.Leu553SerfsTer?) n.2091del | gnomAD v4 |
| 19 | g.54939247G>A | CA2587198334 | NLRP7 | c.1572C>T (p.Gly524=) c.1656C>T (p.Gly552=) n.2090C>T | gnomAD v4 |
| 19 | g.54939248C>A | CA407861698 | NLRP7 | c.1571G>T (p.Gly524Val) c.1655G>T (p.Gly552Val) n.2089G>T | |
| 19 | g.54939248C>G | CA407861699 | NLRP7 | c.1571G>C (p.Gly524Ala) c.1655G>C (p.Gly552Ala) n.2089G>C | |
| 19 | g.54939248C>T | CA407861700 | NLRP7 | c.1571G>A (p.Gly524Asp) c.1655G>A (p.Gly552Asp) n.2089G>A | COSMIC COSMIC COSMIC |
| 19 | g.54939249C>A | CA407861701 | NLRP7 | c.1570G>T (p.Gly524Cys) c.1654G>T (p.Gly552Cys) n.2088G>T | |
| 19 | g.54939249C>G | CA407861702 | NLRP7 | c.1570G>C (p.Gly524Arg) c.1654G>C (p.Gly552Arg) n.2088G>C | |
| 19 | g.54939249C>T | CA407861703 | NLRP7 | c.1570G>A (p.Gly524Ser) c.1654G>A (p.Gly552Ser) n.2088G>A | gnomAD v4 COSMIC COSMIC |
| 19 | g.54939249_54939250delinsCG | CA2343150778 | NLRP7 | c.1569_1570delinsCG (p.Phe523=) c.1653_1654delinsCG (p.Phe551=) n.2087_2088delinsCG | |
| 19 | g.54939250del | CA883692018 | NLRP7 | c.1569del (p.Phe523LeufsTer?) c.1653del (p.Phe551LeufsTer?) n.2087del | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939250G>A | CA310017631 | NLRP7 | c.1569C>T (p.Phe523=) c.1653C>T (p.Phe551=) n.2087C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 19 | g.54939250G>C | CA407861704 | NLRP7 | c.1569C>G (p.Phe523Leu) c.1653C>G (p.Phe551Leu) n.2087C>G | |
| 19 | g.54939250G= | CA2343150779 | NLRP7 | c.1569C= (p.Phe523=) c.1653C= (p.Phe551=) n.2087C= | |
| 19 | g.54939250G>T | CA407861705 | NLRP7 | c.1569C>A (p.Phe523Leu) c.1653C>A (p.Phe551Leu) n.2087C>A | |
| 19 | g.54939250_54939253delinsGAAT | CA2343150780 | NLRP7 | c.1566_1569delinsATTC (p.Leu522=) c.1650_1653delinsATTC (p.Leu550=) n.2084_2087delinsATTC | |
| 19 | g.54939253_54939423del | CA2510689401 | NLRP7 | c.1399_1569del (p.Ile467_Phe523del) c.1483_1653del (p.Ile495_Phe551del) n.1917_2087del |