| 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.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 | |
| 19 | g.54939251A>C | CA407861707 | NLRP7 | c.1568T>G (p.Phe523Cys) c.1652T>G (p.Phe551Cys) n.2086T>G | |
| 19 | g.54939251A>G | CA407861708 | NLRP7 | c.1568T>C (p.Phe523Ser) c.1652T>C (p.Phe551Ser) n.2086T>C | gnomAD v4 |
| 19 | g.54939251A>T | CA407861706 | NLRP7 | c.1568T>A (p.Phe523Tyr) c.1652T>A (p.Phe551Tyr) n.2086T>A | |
| 19 | g.54939251_54939253delinsAAT | CA2343150782 | NLRP7 | c.1566_1568delinsATT (p.Leu522=) c.1650_1652delinsATT (p.Leu550=) n.2084_2086delinsATT | |
| 19 | g.54939253_54939255del | CA2343150781 | NLRP7 | c.1566_1568del (p.Leu522del) c.1650_1652del (p.Leu550del) n.2084_2086del | dbSNP |
| 19 | g.54939252A>C | CA407861711 | NLRP7 | c.1567T>G (p.Phe523Val) c.1651T>G (p.Phe551Val) n.2085T>G | |
| 19 | g.54939252A>G | CA407861709 | NLRP7 | c.1567T>C (p.Phe523Leu) c.1651T>C (p.Phe551Leu) n.2085T>C | |
| 19 | g.54939252A>T | CA407861710 | NLRP7 | c.1567T>A (p.Phe523Ile) c.1651T>A (p.Phe551Ile) n.2085T>A | |
| 19 | g.54939253_54939254del | CA883692020 | NLRP7 | c.1566_1567del (p.Leu522PhefsTer5) c.1650_1651del (p.Leu550PhefsTer5) n.2084_2085del | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939253T>A | CA407861712 | NLRP7 | c.1566A>T (p.Leu522Phe) c.1650A>T (p.Leu550Phe) n.2084A>T | |
| 19 | g.54939253T>C | CA310017635 | NLRP7 | c.1566A>G (p.Leu522=) c.1650A>G (p.Leu550=) n.2084A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939253T>G | CA407861713 | NLRP7 | c.1566A>C (p.Leu522Phe) c.1650A>C (p.Leu550Phe) n.2084A>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939253T= | CA2343150783 | NLRP7 | c.1566A= (p.Leu522=) c.1650A= (p.Leu550=) n.2084A= | |
| 19 | g.54939254A= | CA2343150784 | NLRP7 | c.1565T= (p.Leu522=) c.1649T= (p.Leu550=) n.2083T= | |
| 19 | g.54939254A>C | CA407861714 | NLRP7 | c.1565T>G (p.Leu522Ter) c.1649T>G (p.Leu550Ter) n.2083T>G | gnomAD v4 |
| 19 | g.54939254A>G | CA407861715 | NLRP7 | c.1565T>C (p.Leu522Ser) c.1649T>C (p.Leu550Ser) n.2083T>C | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 19 | g.54939254A>T | CA407861716 | NLRP7 | c.1565T>A (p.Leu522Ter) c.1649T>A (p.Leu550Ter) n.2083T>A | |
| 19 | g.54939255A>C | CA407861717 | NLRP7 | c.1564T>G (p.Leu522Val) c.1648T>G (p.Leu550Val) n.2082T>G | |
| 19 | g.54939255A>T | CA407861718 | NLRP7 | c.1564T>A (p.Leu522Ile) c.1648T>A (p.Leu550Ile) n.2082T>A | |
| 19 | g.54939256G>C | CA407861719 | NLRP7 | c.1563C>G (p.Phe521Leu) c.1647C>G (p.Phe549Leu) n.2081C>G | |
| 19 | g.54939256G>T | CA407861720 | NLRP7 | c.1563C>A (p.Phe521Leu) c.1647C>A (p.Phe549Leu) n.2081C>A | |
| 19 | g.54939257A= | CA2343150786 | NLRP7 | c.1562T= (p.Phe521=) c.1646T= (p.Phe549=) n.2080T= | |
| 19 | g.54939257A>C | CA407861723 | NLRP7 | c.1562T>G (p.Phe521Cys) c.1646T>G (p.Phe549Cys) n.2080T>G | |
| 19 | g.54939257A>G | CA407861721 | NLRP7 | c.1562T>C (p.Phe521Ser) c.1646T>C (p.Phe549Ser) n.2080T>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939257A>T | CA407861722 | NLRP7 | c.1562T>A (p.Phe521Tyr) c.1646T>A (p.Phe549Tyr) n.2080T>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939257_54939262delinsAAGTGT | CA2343150785 | NLRP7 | c.1557_1562delinsACACTT (p.Gly519=) c.1641_1646delinsACACTT (p.Gly547=) n.2075_2080delinsACACTT | |
| 19 | g.54939258A>C | CA407861724 | NLRP7 | c.1561T>G (p.Phe521Val) c.1645T>G (p.Phe549Val) n.2079T>G | gnomAD v4 |
| 19 | g.54939258A>G | CA407861725 | NLRP7 | c.1561T>C (p.Phe521Leu) c.1645T>C (p.Phe549Leu) n.2079T>C | |
| 19 | g.54939258A>T | CA407861726 | NLRP7 | c.1561T>A (p.Phe521Ile) c.1645T>A (p.Phe549Ile) n.2079T>A | |
| 19 | g.54939258_54939262del | CA2343150787 | NLRP7 | c.1557_1561del (p.His520LeufsTer6) c.1641_1645del (p.His548LeufsTer6) n.2075_2079del | dbSNP |
| 19 | g.54939259G>C | CA407861727 | NLRP7 | c.1560C>G (p.His520Gln) c.1644C>G (p.His548Gln) n.2078C>G | |
| 19 | g.54939259G>T | CA407861728 | NLRP7 | c.1560C>A (p.His520Gln) c.1644C>A (p.His548Gln) n.2078C>A | |
| 19 | g.54939260T>A | CA407861729 | NLRP7 | c.1559A>T (p.His520Leu) c.1643A>T (p.His548Leu) n.2077A>T | |
| 19 | g.54939260T>C | CA407861730 | NLRP7 | c.1559A>G (p.His520Arg) c.1643A>G (p.His548Arg) n.2077A>G | |
| 19 | g.54939260T>G | CA407861731 | NLRP7 | c.1559A>C (p.His520Pro) c.1643A>C (p.His548Pro) n.2077A>C | |
| 19 | g.54939260T= | CA2343150788 | NLRP7 | c.1559A= (p.His520=) c.1643A= (p.His548=) n.2077A= | |
| 19 | g.54939260_54939261insA | CA883692039 | NLRP7 | c.1558_1559insT (p.His520LeufsTer8) c.1642_1643insT (p.His548LeufsTer8) n.2076_2077insT | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939261G>A | CA310017641 | NLRP7 | c.1558C>T (p.His520Tyr) c.1642C>T (p.His548Tyr) n.2076C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939261G>C | CA407861732 | NLRP7 | c.1558C>G (p.His520Asp) c.1642C>G (p.His548Asp) n.2076C>G | |
| 19 | g.54939261G= | CA2343150789 | NLRP7 | c.1558C= (p.His520=) c.1642C= (p.His548=) n.2076C= | |
| 19 | g.54939261G>T | CA407861733 | NLRP7 | c.1558C>A (p.His520Asn) c.1642C>A (p.His548Asn) n.2076C>A | |
| 19 | g.54939262del | CA2695229191 | NLRP7 | c.1557del (p.His520ThrfsTer?) c.1641del (p.His548ThrfsTer?) n.2075del | |
| 19 | g.54939262T>C | CA310017646 | NLRP7 | c.1557A>G (p.Gly519=) c.1641A>G (p.Gly547=) n.2075A>G | dbSNP gnomAD v4 |
| 19 | g.54939262T>G | CA883692046 | NLRP7 | c.1557A>C (p.Gly519=) c.1641A>C (p.Gly547=) n.2075A>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939262T= | CA2343150790 | NLRP7 | c.1557A= (p.Gly519=) c.1641A= (p.Gly547=) n.2075A= | |
| 19 | g.54939262_54939263insAG | CA883692050 | NLRP7 | c.1556_1557insCT (p.His520TyrfsTer?) c.1640_1641insCT (p.His548TyrfsTer?) n.2074_2075insCT | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939263C>A | CA407861735 | NLRP7 | c.1556G>T (p.Gly519Val) c.1640G>T (p.Gly547Val) n.2074G>T | gnomAD v4 |
| 19 | g.54939263C>G | CA407861736 | NLRP7 | c.1556G>C (p.Gly519Ala) c.1640G>C (p.Gly547Ala) n.2074G>C | |
| 19 | g.54939263C>T | CA407861734 | NLRP7 | c.1556G>A (p.Gly519Glu) c.1640G>A (p.Gly547Glu) n.2074G>A | |
| 19 | g.54939264del | CA2587198335 | NLRP7 | c.1556del (p.Gly519AspfsTer?) c.1640del (p.Gly547AspfsTer?) n.2074del | gnomAD v4 |
| 19 | g.54939264C>A | CA407861737 | NLRP7 | c.1555G>T (p.Gly519Ter) c.1639G>T (p.Gly547Ter) n.2073G>T | dbSNP COSMIC |
| 19 | g.54939264C= | CA2343150791 | NLRP7 | c.1555G= (p.Gly519=) c.1639G= (p.Gly547=) n.2073G= | |
| 19 | g.54939264C>G | CA407861738 | NLRP7 | c.1555G>C (p.Gly519Arg) c.1639G>C (p.Gly547Arg) n.2073G>C | |
| 19 | g.54939264C>T | CA310017651 | NLRP7 | c.1555G>A (p.Gly519Arg) c.1639G>A (p.Gly547Arg) n.2073G>A | dbSNP |
| 19 | g.54939266A= | CA2343150792 | NLRP7 | c.1553T= (p.Val518=) c.1637T= (p.Val546=) n.2071T= | |
| 19 | g.54939266A>C | CA407861739 | NLRP7 | c.1553T>G (p.Val518Gly) c.1637T>G (p.Val546Gly) n.2071T>G | |
| 19 | g.54939266A>G | CA310017662 | NLRP7 | c.1553T>C (p.Val518Ala) c.1637T>C (p.Val546Ala) n.2071T>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939266A>T | CA407861740 | NLRP7 | c.1553T>A (p.Val518Glu) c.1637T>A (p.Val546Glu) n.2071T>A | |
| 19 | g.54939267C>A | CA310017665 | NLRP7 | c.1552G>T (p.Val518Leu) c.1636G>T (p.Val546Leu) n.2070G>T | dbSNP gnomAD v4 |
| 19 | g.54939267C= | CA2343150793 | NLRP7 | c.1552G= (p.Val518=) c.1636G= (p.Val546=) n.2070G= | |
| 19 | g.54939267C>G | CA407861741 | NLRP7 | c.1552G>C (p.Val518Leu) c.1636G>C (p.Val546Leu) n.2070G>C | |
| 19 | g.54939267C>T | CA407861742 | NLRP7 | c.1552G>A (p.Val518Ile) c.1636G>A (p.Val546Ile) n.2070G>A | dbSNP gnomAD v4 |
| 19 | g.54939268T>A | CA310017670 | NLRP7 | c.1551A>T (p.Gln517His) c.1635A>T (p.Gln545His) n.2069A>T | dbSNP gnomAD v4 |
| 19 | g.54939268T>C | CA2587198337 | NLRP7 | c.1551A>G (p.Gln517=) c.1635A>G (p.Gln545=) n.2069A>G | gnomAD v4 |
| 19 | g.54939268T>G | CA407861743 | NLRP7 | c.1551A>C (p.Gln517His) c.1635A>C (p.Gln545His) n.2069A>C | |
| 19 | g.54939268T= | CA2343150794 | NLRP7 | c.1551A= (p.Gln517=) c.1635A= (p.Gln545=) n.2069A= | |
| 19 | g.54939269T>A | CA407861744 | NLRP7 | c.1550A>T (p.Gln517Leu) c.1634A>T (p.Gln545Leu) n.2068A>T | |
| 19 | g.54939269T>C | CA407861745 | NLRP7 | c.1550A>G (p.Gln517Arg) c.1634A>G (p.Gln545Arg) n.2068A>G | |
| 19 | g.54939269T>G | CA407861746 | NLRP7 | c.1550A>C (p.Gln517Pro) c.1634A>C (p.Gln545Pro) n.2068A>C | |
| 19 | g.54939270G>A | CA407861747 | NLRP7 | c.1549C>T (p.Gln517Ter) c.1633C>T (p.Gln545Ter) n.2067C>T | |
| 19 | g.54939270G>C | CA310017671 | NLRP7 | c.1549C>G (p.Gln517Glu) c.1633C>G (p.Gln545Glu) n.2067C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939270G= | CA2343150795 | NLRP7 | c.1549C= (p.Gln517=) c.1633C= (p.Gln545=) n.2067C= | |
| 19 | g.54939270G>T | CA407861748 | NLRP7 | c.1549C>A (p.Gln517Lys) c.1633C>A (p.Gln545Lys) n.2067C>A | |
| 19 | g.54939271A= | CA2343150796 | NLRP7 | c.1548T= (p.Ile516=) c.1632T= (p.Ile544=) n.2066T= | |
| 19 | g.54939271A>C | CA407861749 | NLRP7 | c.1548T>G (p.Ile516Met) c.1632T>G (p.Ile544Met) n.2066T>G | |
| 19 | g.54939271A>G | CA310017672 | NLRP7 | c.1548T>C (p.Ile516=) c.1632T>C (p.Ile544=) n.2066T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939272A= | CA2343150797 | NLRP7 | c.1547T= (p.Ile516=) c.1631T= (p.Ile544=) n.2065T= | |
| 19 | g.54939272A>C | CA407861750 | NLRP7 | c.1547T>G (p.Ile516Ser) c.1631T>G (p.Ile544Ser) n.2065T>G | |
| 19 | g.54939272A>G | CA407861751 | NLRP7 | c.1547T>C (p.Ile516Thr) c.1631T>C (p.Ile544Thr) n.2065T>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939272A>T | CA407861752 | NLRP7 | c.1547T>A (p.Ile516Asn) c.1631T>A (p.Ile544Asn) n.2065T>A | |
| 19 | g.54939273T>A | CA407861753 | NLRP7 | c.1546A>T (p.Ile516Phe) c.1630A>T (p.Ile544Phe) n.2064A>T | |
| 19 | g.54939273T>C | CA407861754 | NLRP7 | c.1546A>G (p.Ile516Val) c.1630A>G (p.Ile544Val) n.2064A>G | |
| 19 | g.54939273T>G | CA407861755 | NLRP7 | c.1546A>C (p.Ile516Leu) c.1630A>C (p.Ile544Leu) n.2064A>C | |
| 19 | g.54939274C>A | CA2587198338 | NLRP7 | c.1545G>T (p.Leu515=) c.1629G>T (p.Leu543=) n.2063G>T | gnomAD v4 |
| 19 | g.54939275A>C | CA407861756 | NLRP7 | c.1544T>G (p.Leu515Arg) c.1628T>G (p.Leu543Arg) n.2062T>G | |
| 19 | g.54939275A>G | CA407861757 | NLRP7 | c.1544T>C (p.Leu515Pro) c.1628T>C (p.Leu543Pro) n.2062T>C | |
| 19 | g.54939275A>T | CA407861758 | NLRP7 | c.1544T>A (p.Leu515Gln) c.1628T>A (p.Leu543Gln) n.2062T>A | |
| 19 | g.54939275_54939281delinsAGGTCGG | CA2343150798 | NLRP7 | c.1538_1544delinsCCGACCT (p.Pro513=) c.1622_1628delinsCCGACCT (p.Pro541=) n.2056_2062delinsCCGACCT | |
| 19 | g.54939276G>A | CA2343150801 | NLRP7 | c.1543C>T (p.Leu515=) c.1627C>T (p.Leu543=) n.2061C>T | dbSNP gnomAD v4 |
| 19 | g.54939276G>C | CA407861759 | NLRP7 | c.1543C>G (p.Leu515Val) c.1627C>G (p.Leu543Val) n.2061C>G | dbSNP gnomAD v4 |
| 19 | g.54939276G= | CA2343150800 | NLRP7 | c.1543C= (p.Leu515=) c.1627C= (p.Leu543=) n.2061C= | |
| 19 | g.54939276G>T | CA407861760 | NLRP7 | c.1543C>A (p.Leu515Met) c.1627C>A (p.Leu543Met) n.2061C>A | |
| 19 | g.54939279_54939284del | CA2343150799 | NLRP7 | c.1538_1543del (p.Pro513_Asp514del) c.1622_1627del (p.Pro541_Asp542del) n.2056_2061del | dbSNP |
| 19 | g.54939277G>A | CA310017673 | NLRP7 | c.1542C>T (p.Asp514=) c.1626C>T (p.Asp542=) n.2060C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939277G>C | CA310017675 | NLRP7 | c.1542C>G (p.Asp514Glu) c.1626C>G (p.Asp542Glu) n.2060C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939277G= | CA2343150802 | NLRP7 | c.1542C= (p.Asp514=) c.1626C= (p.Asp542=) n.2060C= | |
| 19 | g.54939277G>T | CA407861761 | NLRP7 | c.1542C>A (p.Asp514Glu) c.1626C>A (p.Asp542Glu) n.2060C>A | dbSNP |
| 19 | g.54939278T>A | CA407861763 | NLRP7 | c.1541A>T (p.Asp514Val) c.1625A>T (p.Asp542Val) n.2059A>T | |
| 19 | g.54939278T>C | CA407861762 | NLRP7 | c.1541A>G (p.Asp514Gly) c.1625A>G (p.Asp542Gly) n.2059A>G | gnomAD v4 |
| 19 | g.54939278T>G | CA407861764 | NLRP7 | c.1541A>C (p.Asp514Ala) c.1625A>C (p.Asp542Ala) n.2059A>C | |
| 19 | g.54939279C>A | CA407861765 | NLRP7 | c.1540G>T (p.Asp514Tyr) c.1624G>T (p.Asp542Tyr) n.2058G>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939279C= | CA2343150803 | NLRP7 | c.1540G= (p.Asp514=) c.1624G= (p.Asp542=) n.2058G= | |
| 19 | g.54939279C>G | CA407861766 | NLRP7 | c.1540G>C (p.Asp514His) c.1624G>C (p.Asp542His) n.2058G>C | |
| 19 | g.54939279C>T | CA310017678 | NLRP7 | c.1540G>A (p.Asp514Asn) c.1624G>A (p.Asp542Asn) n.2058G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 19 | g.54939280G>A | CA997220777 | NLRP7 | c.1539C>T (p.Pro513=) c.1623C>T (p.Pro541=) n.2057C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54939280G>C | CA2343150805 | NLRP7 | c.1539C>G (p.Pro513=) c.1623C>G (p.Pro541=) n.2057C>G | dbSNP |
| 19 | g.54939280G= | CA2343150804 | NLRP7 | c.1539C= (p.Pro513=) c.1623C= (p.Pro541=) n.2057C= | |
| 19 | g.54939281G>A | CA407861767 | NLRP7 | c.1538C>T (p.Pro513Leu) c.1622C>T (p.Pro541Leu) n.2056C>T | gnomAD v4 |
| 19 | g.54939281G>C | CA407861768 | NLRP7 | c.1538C>G (p.Pro513Arg) c.1622C>G (p.Pro541Arg) n.2056C>G | dbSNP |
| 19 | g.54939281G= | CA2343150806 | NLRP7 | c.1538C= (p.Pro513=) c.1622C= (p.Pro541=) n.2056C= | |
| 19 | g.54939281G>T | CA407861769 | NLRP7 | c.1538C>A (p.Pro513His) c.1622C>A (p.Pro541His) n.2056C>A |