| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.50712205G>A | CA395871700 | NOD2 | c.2213G>A (p.Gly738Glu) c.12G>A c.2294G>A (p.Gly765Glu) c.1790G>A (p.Gly597Glu) c.1628G>A (p.Gly543Glu) n.2303G>A c.1721G>A (p.Gly574Glu) n.2256G>A n.2278G>A | |
| 16 | g.50712205G>C | CA395871702 | NOD2 | c.2213G>C (p.Gly738Ala) c.12G>C c.2294G>C (p.Gly765Ala) c.1790G>C (p.Gly597Ala) c.1628G>C (p.Gly543Ala) n.2303G>C c.1721G>C (p.Gly574Ala) n.2256G>C n.2278G>C | |
| 16 | g.50712205G>T | CA395871704 | NOD2 | c.2213G>T (p.Gly738Val) c.12G>T c.2294G>T (p.Gly765Val) c.1790G>T (p.Gly597Val) c.1628G>T (p.Gly543Val) n.2303G>T c.1721G>T (p.Gly574Val) n.2256G>T n.2278G>T | |
| 16 | g.50712206G>A | CA495779085 | NOD2 | c.2214G>A (p.Gly738=) c.13G>A c.2295G>A (p.Gly765=) c.1791G>A (p.Gly597=) c.1629G>A (p.Gly543=) n.2304G>A c.1722G>A (p.Gly574=) n.2257G>A n.2279G>A | gnomAD v4 |
| 16 | g.50712206G>C | CA495779086 | NOD2 | c.2214G>C (p.Gly738=) c.13G>C c.2295G>C (p.Gly765=) c.1791G>C (p.Gly597=) c.1629G>C (p.Gly543=) n.2304G>C c.1722G>C (p.Gly574=) n.2257G>C n.2279G>C | |
| 16 | g.50712206G>T | CA495779087 | NOD2 | c.2214G>T (p.Gly738=) c.13G>T c.2295G>T (p.Gly765=) c.1791G>T (p.Gly597=) c.1629G>T (p.Gly543=) n.2304G>T c.1722G>T (p.Gly574=) n.2257G>T n.2279G>T | |
| 16 | g.50712207C>A | CA395871706 | NOD2 | c.2215C>A (p.His739Asn) c.14C>A c.2296C>A (p.His766Asn) c.1792C>A (p.His598Asn) c.1630C>A (p.His544Asn) n.2305C>A c.1723C>A (p.His575Asn) n.2258C>A n.2280C>A | |
| 16 | g.50712207C>G | CA395871708 | NOD2 | c.2215C>G (p.His739Asp) c.14C>G c.2296C>G (p.His766Asp) c.1792C>G (p.His598Asp) c.1630C>G (p.His544Asp) n.2305C>G c.1723C>G (p.His575Asp) n.2258C>G n.2280C>G | |
| 16 | g.50712207C>T | CA395871710 | NOD2 | c.2215C>T (p.His739Tyr) c.14C>T c.2296C>T (p.His766Tyr) c.1792C>T (p.His598Tyr) c.1630C>T (p.His544Tyr) n.2305C>T c.1723C>T (p.His575Tyr) n.2258C>T n.2280C>T | |
| 16 | g.50712208A= | CA2221862855 | NOD2 | c.2216A= (p.His739=) c.15A= c.2297A= (p.His766=) c.1793A= (p.His598=) c.1631A= (p.His544=) n.2306A= c.1724A= (p.His575=) n.2259A= n.2281A= | |
| 16 | g.50712208A>C | CA395871713 | NOD2 | c.2216A>C (p.His739Pro) c.15A>C c.2297A>C (p.His766Pro) c.1793A>C (p.His598Pro) c.1631A>C (p.His544Pro) n.2306A>C c.1724A>C (p.His575Pro) n.2259A>C n.2281A>C | |
| 16 | g.50712208A>G | CA395871715 | NOD2 | c.2216A>G (p.His739Arg) c.15A>G c.2297A>G (p.His766Arg) c.1793A>G (p.His598Arg) c.1631A>G (p.His544Arg) n.2306A>G c.1724A>G (p.His575Arg) n.2259A>G n.2281A>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.50712208A>T | CA395871716 | NOD2 | c.2216A>T (p.His739Leu) c.15A>T c.2297A>T (p.His766Leu) c.1793A>T (p.His598Leu) c.1631A>T (p.His544Leu) n.2306A>T c.1724A>T (p.His575Leu) n.2259A>T n.2281A>T | |
| 16 | g.50712209C>A | CA395871722 | NOD2 | c.2217C>A (p.His739Gln) c.16C>A c.2298C>A (p.His766Gln) c.1794C>A (p.His598Gln) c.1632C>A (p.His544Gln) n.2307C>A c.1725C>A (p.His575Gln) n.2260C>A n.2282C>A | dbSNP |
| 16 | g.50712209C= | CA2221862858 | NOD2 | c.2217C= (p.His739=) c.16C= c.2298C= (p.His766=) c.1794C= (p.His598=) c.1632C= (p.His544=) n.2307C= c.1725C= (p.His575=) n.2260C= n.2282C= | |
| 16 | g.50712209C>G | CA395871720 | NOD2 | c.2217C>G (p.His739Gln) c.16C>G c.2298C>G (p.His766Gln) c.1794C>G (p.His598Gln) c.1632C>G (p.His544Gln) n.2307C>G c.1725C>G (p.His575Gln) n.2260C>G n.2282C>G | |
| 16 | g.50712209C>T | CA8051751 | NOD2 | c.2217C>T (p.His739=) c.16C>T c.2298C>T (p.His766=) c.1794C>T (p.His598=) c.1632C>T (p.His544=) n.2307C>T c.1725C>T (p.His575=) n.2260C>T n.2282C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712210C>A | CA395871724 | NOD2 | c.2218C>A (p.Leu740Ile) c.17C>A c.2299C>A (p.Leu767Ile) c.1795C>A (p.Leu599Ile) c.1633C>A (p.Leu545Ile) n.2308C>A c.1726C>A (p.Leu576Ile) n.2261C>A n.2283C>A | |
| 16 | g.50712210C= | CA2221862860 | NOD2 | c.2218C= (p.Leu740=) c.17C= c.2299C= (p.Leu767=) c.1795C= (p.Leu599=) c.1633C= (p.Leu545=) n.2308C= c.1726C= (p.Leu576=) n.2261C= n.2283C= | |
| 16 | g.50712210C>G | CA395871725 | NOD2 | c.2218C>G (p.Leu740Val) c.17C>G c.2299C>G (p.Leu767Val) c.1795C>G (p.Leu599Val) c.1633C>G (p.Leu545Val) n.2308C>G c.1726C>G (p.Leu576Val) n.2261C>G n.2283C>G | |
| 16 | g.50712210C>T | CA8051752 | NOD2 | c.2218C>T (p.Leu740Phe) c.17C>T c.2299C>T (p.Leu767Phe) c.1795C>T (p.Leu599Phe) c.1633C>T (p.Leu545Phe) n.2308C>T c.1726C>T (p.Leu576Phe) n.2261C>T n.2283C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712211T>A | CA395871727 | NOD2 | c.2219T>A (p.Leu740His) c.18T>A c.2300T>A (p.Leu767His) c.1796T>A (p.Leu599His) c.1634T>A (p.Leu545His) n.2309T>A c.1727T>A (p.Leu576His) n.2262T>A n.2284T>A | |
| 16 | g.50712211T>C | CA395871728 | NOD2 | c.2219T>C (p.Leu740Pro) c.18T>C c.2300T>C (p.Leu767Pro) c.1796T>C (p.Leu599Pro) c.1634T>C (p.Leu545Pro) n.2309T>C c.1727T>C (p.Leu576Pro) n.2262T>C n.2284T>C | gnomAD v4 |
| 16 | g.50712211T>G | CA395871730 | NOD2 | c.2219T>G (p.Leu740Arg) c.18T>G c.2300T>G (p.Leu767Arg) c.1796T>G (p.Leu599Arg) c.1634T>G (p.Leu545Arg) n.2309T>G c.1727T>G (p.Leu576Arg) n.2262T>G n.2284T>G | |
| 16 | g.50712212C>A | CA495779091 | NOD2 | c.2220C>A (p.Leu740=) c.19C>A c.2301C>A (p.Leu767=) c.1797C>A (p.Leu599=) c.1635C>A (p.Leu545=) n.2310C>A c.1728C>A (p.Leu576=) n.2263C>A n.2285C>A | |
| 16 | g.50712212C>G | CA495779089 | NOD2 | c.2220C>G (p.Leu740=) c.19C>G c.2301C>G (p.Leu767=) c.1797C>G (p.Leu599=) c.1635C>G (p.Leu545=) n.2310C>G c.1728C>G (p.Leu576=) n.2263C>G n.2285C>G | |
| 16 | g.50712212C>T | CA495779090 | NOD2 | c.2220C>T (p.Leu740=) c.19C>T c.2301C>T (p.Leu767=) c.1797C>T (p.Leu599=) c.1635C>T (p.Leu545=) n.2310C>T c.1728C>T (p.Leu576=) n.2263C>T n.2285C>T | gnomAD v4 |
| 16 | g.50712213A>C | CA395871733 | NOD2 | c.2221A>C (p.Lys741Gln) c.20A>C c.2302A>C (p.Lys768Gln) c.1798A>C (p.Lys600Gln) c.1636A>C (p.Lys546Gln) n.2311A>C c.1729A>C (p.Lys577Gln) n.2264A>C n.2286A>C | |
| 16 | g.50712213A>G | CA395871734 | NOD2 | c.2221A>G (p.Lys741Glu) c.20A>G c.2302A>G (p.Lys768Glu) c.1798A>G (p.Lys600Glu) c.1636A>G (p.Lys546Glu) n.2311A>G c.1729A>G (p.Lys577Glu) n.2264A>G n.2286A>G | gnomAD v4 |
| 16 | g.50712213A>T | CA395871736 | NOD2 | c.2221A>T (p.Lys741Ter) c.20A>T c.2302A>T (p.Lys768Ter) c.1798A>T (p.Lys600Ter) c.1636A>T (p.Lys546Ter) n.2311A>T c.1729A>T (p.Lys577Ter) n.2264A>T n.2286A>T | |
| 16 | g.50712214A= | CA2221862863 | NOD2 | c.2222A= (p.Lys741=) c.21A= c.2303A= (p.Lys768=) c.1799A= (p.Lys600=) c.1637A= (p.Lys546=) n.2312A= c.1730A= (p.Lys577=) n.2265A= n.2287A= | |
| 16 | g.50712214A>C | CA395871739 | NOD2 | c.2222A>C (p.Lys741Thr) c.21A>C c.2303A>C (p.Lys768Thr) c.1799A>C (p.Lys600Thr) c.1637A>C (p.Lys546Thr) n.2312A>C c.1730A>C (p.Lys577Thr) n.2265A>C n.2287A>C | gnomAD v4 |
| 16 | g.50712214A>G | CA395871740 | NOD2 | c.2222A>G (p.Lys741Arg) c.21A>G c.2303A>G (p.Lys768Arg) c.1799A>G (p.Lys600Arg) c.1637A>G (p.Lys546Arg) n.2312A>G c.1730A>G (p.Lys577Arg) n.2265A>G n.2287A>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.50712214A>T | CA395871741 | NOD2 | c.2222A>T (p.Lys741Met) c.21A>T c.2303A>T (p.Lys768Met) c.1799A>T (p.Lys600Met) c.1637A>T (p.Lys546Met) n.2312A>T c.1730A>T (p.Lys577Met) n.2265A>T n.2287A>T | |
| 16 | g.50712215G>A | CA495779092 | NOD2 | c.2223G>A (p.Lys741=) c.22G>A c.2304G>A (p.Lys768=) c.1800G>A (p.Lys600=) c.1638G>A (p.Lys546=) n.2313G>A c.1731G>A (p.Lys577=) n.2266G>A n.2288G>A | ClinVar dbSNP |
| 16 | g.50712215G>C | CA395871744 | NOD2 | c.2223G>C (p.Lys741Asn) c.22G>C c.2304G>C (p.Lys768Asn) c.1800G>C (p.Lys600Asn) c.1638G>C (p.Lys546Asn) n.2313G>C c.1731G>C (p.Lys577Asn) n.2266G>C n.2288G>C | |
| 16 | g.50712215G= | CA2221862867 | NOD2 | c.2223G= (p.Lys741=) c.22G= c.2304G= (p.Lys768=) c.1800G= (p.Lys600=) c.1638G= (p.Lys546=) n.2313G= c.1731G= (p.Lys577=) n.2266G= n.2288G= | |
| 16 | g.50712215G>T | CA395871742 | NOD2 | c.2223G>T (p.Lys741Asn) c.22G>T c.2304G>T (p.Lys768Asn) c.1800G>T (p.Lys600Asn) c.1638G>T (p.Lys546Asn) n.2313G>T c.1731G>T (p.Lys577Asn) n.2266G>T n.2288G>T | |
| 16 | g.50712216T>A | CA395871746 | NOD2 | c.2224T>A (p.Leu742Met) c.23T>A c.2305T>A (p.Leu769Met) c.1801T>A (p.Leu601Met) c.1639T>A (p.Leu547Met) n.2314T>A c.1732T>A (p.Leu578Met) n.2267T>A n.2289T>A | gnomAD v4 |
| 16 | g.50712216T>C | CA495779094 | NOD2 | c.2224T>C (p.Leu742=) c.23T>C c.2305T>C (p.Leu769=) c.1801T>C (p.Leu601=) c.1639T>C (p.Leu547=) n.2314T>C c.1732T>C (p.Leu578=) n.2267T>C n.2289T>C | gnomAD v4 |
| 16 | g.50712216T>G | CA395871748 | NOD2 | c.2224T>G (p.Leu742Val) c.23T>G c.2305T>G (p.Leu769Val) c.1801T>G (p.Leu601Val) c.1639T>G (p.Leu547Val) n.2314T>G c.1732T>G (p.Leu578Val) n.2267T>G n.2289T>G | |
| 16 | g.50712217T>A | CA395871750 | NOD2 | c.2225T>A (p.Leu742Ter) c.24T>A c.2306T>A (p.Leu769Ter) c.1802T>A (p.Leu601Ter) c.1640T>A (p.Leu547Ter) n.2315T>A c.1733T>A (p.Leu578Ter) n.2268T>A n.2290T>A | |
| 16 | g.50712217T>C | CA395871752 | NOD2 | c.2225T>C (p.Leu742Ser) c.24T>C c.2306T>C (p.Leu769Ser) c.1802T>C (p.Leu601Ser) c.1640T>C (p.Leu547Ser) n.2315T>C c.1733T>C (p.Leu578Ser) n.2268T>C n.2290T>C | |
| 16 | g.50712217T>G | CA395871753 | NOD2 | c.2225T>G (p.Leu742Trp) c.24T>G c.2306T>G (p.Leu769Trp) c.1802T>G (p.Leu601Trp) c.1640T>G (p.Leu547Trp) n.2315T>G c.1733T>G (p.Leu578Trp) n.2268T>G n.2290T>G | |
| 16 | g.50712218G>A | CA495779095 | NOD2 | c.2226G>A (p.Leu742=) c.25G>A c.2307G>A (p.Leu769=) c.1803G>A (p.Leu601=) c.1641G>A (p.Leu547=) n.2316G>A c.1734G>A (p.Leu578=) n.2269G>A n.2291G>A | |
| 16 | g.50712218G>C | CA395871755 | NOD2 | c.2226G>C (p.Leu742Phe) c.25G>C c.2307G>C (p.Leu769Phe) c.1803G>C (p.Leu601Phe) c.1641G>C (p.Leu547Phe) n.2316G>C c.1734G>C (p.Leu578Phe) n.2269G>C n.2291G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712218G= | CA2221862870 | NOD2 | c.2226G= (p.Leu742=) c.25G= c.2307G= (p.Leu769=) c.1803G= (p.Leu601=) c.1641G= (p.Leu547=) n.2316G= c.1734G= (p.Leu578=) n.2269G= n.2291G= | |
| 16 | g.50712218G>T | CA395871757 | NOD2 | c.2226G>T (p.Leu742Phe) c.25G>T c.2307G>T (p.Leu769Phe) c.1803G>T (p.Leu601Phe) c.1641G>T (p.Leu547Phe) n.2316G>T c.1734G>T (p.Leu578Phe) n.2269G>T n.2291G>T | gnomAD v4 |
| 16 | g.50712219A>C | CA395871759 | NOD2 | c.2227A>C (p.Thr743Pro) c.26A>C c.2308A>C (p.Thr770Pro) c.1804A>C (p.Thr602Pro) c.1642A>C (p.Thr548Pro) n.2317A>C c.1735A>C (p.Thr579Pro) n.2270A>C n.2292A>C | |
| 16 | g.50712219A>G | CA395871761 | NOD2 | c.2227A>G (p.Thr743Ala) c.26A>G c.2308A>G (p.Thr770Ala) c.1804A>G (p.Thr602Ala) c.1642A>G (p.Thr548Ala) n.2317A>G c.1735A>G (p.Thr579Ala) n.2270A>G n.2292A>G | |
| 16 | g.50712219A>T | CA395871762 | NOD2 | c.2227A>T (p.Thr743Ser) c.26A>T c.2308A>T (p.Thr770Ser) c.1804A>T (p.Thr602Ser) c.1642A>T (p.Thr548Ser) n.2317A>T c.1735A>T (p.Thr579Ser) n.2270A>T n.2292A>T | |
| 16 | g.50712220C>A | CA395871765 | NOD2 | c.2228C>A (p.Thr743Lys) c.27C>A c.2309C>A (p.Thr770Lys) c.1805C>A (p.Thr602Lys) c.1643C>A (p.Thr548Lys) n.2318C>A c.1736C>A (p.Thr579Lys) n.2271C>A n.2293C>A | |
| 16 | g.50712220C>G | CA395871767 | NOD2 | c.2228C>G (p.Thr743Arg) c.27C>G c.2309C>G (p.Thr770Arg) c.1805C>G (p.Thr602Arg) c.1643C>G (p.Thr548Arg) n.2318C>G c.1736C>G (p.Thr579Arg) n.2271C>G n.2293C>G | |
| 16 | g.50712220C>T | CA395871769 | NOD2 | c.2228C>T (p.Thr743Ile) c.27C>T c.2309C>T (p.Thr770Ile) c.1805C>T (p.Thr602Ile) c.1643C>T (p.Thr548Ile) n.2318C>T c.1736C>T (p.Thr579Ile) n.2271C>T n.2293C>T | |
| 16 | g.50712221A>C | CA495779100 | NOD2 | c.2229A>C (p.Thr743=) c.28A>C c.2310A>C (p.Thr770=) c.1806A>C (p.Thr602=) c.1644A>C (p.Thr548=) n.2319A>C c.1737A>C (p.Thr579=) n.2272A>C n.2294A>C | |
| 16 | g.50712221A>G | CA495779101 | NOD2 | c.2229A>G (p.Thr743=) c.28A>G c.2310A>G (p.Thr770=) c.1806A>G (p.Thr602=) c.1644A>G (p.Thr548=) n.2319A>G c.1737A>G (p.Thr579=) n.2272A>G n.2294A>G | |
| 16 | g.50712221A>T | CA495779102 | NOD2 | c.2229A>T (p.Thr743=) c.28A>T c.2310A>T (p.Thr770=) c.1806A>T (p.Thr602=) c.1644A>T (p.Thr548=) n.2319A>T c.1737A>T (p.Thr579=) n.2272A>T n.2294A>T | |
| 16 | g.50712222T>A | CA395871773 | NOD2 | c.2230T>A (p.Phe744Ile) c.29T>A c.2311T>A (p.Phe771Ile) c.1807T>A (p.Phe603Ile) c.1645T>A (p.Phe549Ile) n.2320T>A c.1738T>A (p.Phe580Ile) n.2273T>A n.2295T>A | ClinVar gnomAD v4 |
| 16 | g.50712222T>C | CA395871775 | NOD2 | c.2230T>C (p.Phe744Leu) c.29T>C c.2311T>C (p.Phe771Leu) c.1807T>C (p.Phe603Leu) c.1645T>C (p.Phe549Leu) n.2320T>C c.1738T>C (p.Phe580Leu) n.2273T>C n.2295T>C | |
| 16 | g.50712222T>G | CA395871771 | NOD2 | c.2230T>G (p.Phe744Val) c.29T>G c.2311T>G (p.Phe771Val) c.1807T>G (p.Phe603Val) c.1645T>G (p.Phe549Val) n.2320T>G c.1738T>G (p.Phe580Val) n.2273T>G n.2295T>G | |
| 16 | g.50712223T>A | CA395871777 | NOD2 | c.2231T>A (p.Phe744Tyr) c.30T>A c.2312T>A (p.Phe771Tyr) c.1808T>A (p.Phe603Tyr) c.1646T>A (p.Phe549Tyr) n.2321T>A c.1739T>A (p.Phe580Tyr) n.2274T>A n.2296T>A | |
| 16 | g.50712223T>C | CA395871779 | NOD2 | c.2231T>C (p.Phe744Ser) c.30T>C c.2312T>C (p.Phe771Ser) c.1808T>C (p.Phe603Ser) c.1646T>C (p.Phe549Ser) n.2321T>C c.1739T>C (p.Phe580Ser) n.2274T>C n.2296T>C | |
| 16 | g.50712223T>G | CA395871781 | NOD2 | c.2231T>G (p.Phe744Cys) c.30T>G c.2312T>G (p.Phe771Cys) c.1808T>G (p.Phe603Cys) c.1646T>G (p.Phe549Cys) n.2321T>G c.1739T>G (p.Phe580Cys) n.2274T>G n.2296T>G | |
| 16 | g.50712224T>A | CA395871783 | NOD2 | c.2232T>A (p.Phe744Leu) c.31T>A c.2313T>A (p.Phe771Leu) c.1809T>A (p.Phe603Leu) c.1647T>A (p.Phe549Leu) n.2322T>A c.1740T>A (p.Phe580Leu) n.2275T>A n.2297T>A | |
| 16 | g.50712224T>C | CA495779103 | NOD2 | c.2232T>C (p.Phe744=) c.31T>C c.2313T>C (p.Phe771=) c.1809T>C (p.Phe603=) c.1647T>C (p.Phe549=) n.2322T>C c.1740T>C (p.Phe580=) n.2275T>C n.2297T>C | |
| 16 | g.50712224T>G | CA395871785 | NOD2 | c.2232T>G (p.Phe744Leu) c.31T>G c.2313T>G (p.Phe771Leu) c.1809T>G (p.Phe603Leu) c.1647T>G (p.Phe549Leu) n.2322T>G c.1740T>G (p.Phe580Leu) n.2275T>G n.2297T>G | |
| 16 | g.50712225T>A | CA395871787 | NOD2 | c.2233T>A (p.Cys745Ser) c.32T>A c.2314T>A (p.Cys772Ser) c.1810T>A (p.Cys604Ser) c.1648T>A (p.Cys550Ser) n.2323T>A c.1741T>A (p.Cys581Ser) n.2276T>A n.2298T>A | |
| 16 | g.50712225T>C | CA395871789 | NOD2 | c.2233T>C (p.Cys745Arg) c.32T>C c.2314T>C (p.Cys772Arg) c.1810T>C (p.Cys604Arg) c.1648T>C (p.Cys550Arg) n.2323T>C c.1741T>C (p.Cys581Arg) n.2276T>C n.2298T>C | |
| 16 | g.50712225T>G | CA395871791 | NOD2 | c.2233T>G (p.Cys745Gly) c.32T>G c.2314T>G (p.Cys772Gly) c.1810T>G (p.Cys604Gly) c.1648T>G (p.Cys550Gly) n.2323T>G c.1741T>G (p.Cys581Gly) n.2276T>G n.2298T>G | |
| 16 | g.50712226G>A | CA395871793 | NOD2 | c.2234G>A (p.Cys745Tyr) c.33G>A c.2315G>A (p.Cys772Tyr) c.1811G>A (p.Cys604Tyr) c.1649G>A (p.Cys550Tyr) n.2324G>A c.1742G>A (p.Cys581Tyr) n.2277G>A n.2299G>A | gnomAD v4 |
| 16 | g.50712226G>C | CA395871795 | NOD2 | c.2234G>C (p.Cys745Ser) c.33G>C c.2315G>C (p.Cys772Ser) c.1811G>C (p.Cys604Ser) c.1649G>C (p.Cys550Ser) n.2324G>C c.1742G>C (p.Cys581Ser) n.2277G>C n.2299G>C | |
| 16 | g.50712226G>T | CA395871796 | NOD2 | c.2234G>T (p.Cys745Phe) c.33G>T c.2315G>T (p.Cys772Phe) c.1811G>T (p.Cys604Phe) c.1649G>T (p.Cys550Phe) n.2324G>T c.1742G>T (p.Cys581Phe) n.2277G>T n.2299G>T | gnomAD v4 |
| 16 | g.50712227C>A | CA395871797 | NOD2 | c.2235C>A (p.Cys745Ter) c.34C>A c.2316C>A (p.Cys772Ter) c.1812C>A (p.Cys604Ter) c.1650C>A (p.Cys550Ter) n.2325C>A c.1743C>A (p.Cys581Ter) n.2278C>A n.2300C>A | |
| 16 | g.50712227C>G | CA395871798 | NOD2 | c.2235C>G (p.Cys745Trp) c.34C>G c.2316C>G (p.Cys772Trp) c.1812C>G (p.Cys604Trp) c.1650C>G (p.Cys550Trp) n.2325C>G c.1743C>G (p.Cys581Trp) n.2278C>G n.2300C>G | |
| 16 | g.50712227C>T | CA495779105 | NOD2 | c.2235C>T (p.Cys745=) c.34C>T c.2316C>T (p.Cys772=) c.1812C>T (p.Cys604=) c.1650C>T (p.Cys550=) n.2325C>T c.1743C>T (p.Cys581=) n.2278C>T n.2300C>T | gnomAD v4 |
| 16 | g.50712228A>C | CA395871804 | NOD2 | c.2236A>C (p.Ser746Arg) c.35A>C c.2317A>C (p.Ser773Arg) c.1813A>C (p.Ser605Arg) c.1651A>C (p.Ser551Arg) n.2326A>C c.1744A>C (p.Ser582Arg) n.2279A>C n.2301A>C | |
| 16 | g.50712228A>G | CA395871802 | NOD2 | c.2236A>G (p.Ser746Gly) c.35A>G c.2317A>G (p.Ser773Gly) c.1813A>G (p.Ser605Gly) c.1651A>G (p.Ser551Gly) n.2326A>G c.1744A>G (p.Ser582Gly) n.2279A>G n.2301A>G | |
| 16 | g.50712228A>T | CA395871800 | NOD2 | c.2236A>T (p.Ser746Cys) c.35A>T c.2317A>T (p.Ser773Cys) c.1813A>T (p.Ser605Cys) c.1651A>T (p.Ser551Cys) n.2326A>T c.1744A>T (p.Ser582Cys) n.2279A>T n.2301A>T | |
| 16 | g.50712229G>A | CA281264342 | NOD2 | c.2237G>A (p.Ser746Asn) c.36G>A c.2318G>A (p.Ser773Asn) c.1814G>A (p.Ser605Asn) c.1652G>A (p.Ser551Asn) n.2327G>A c.1745G>A (p.Ser582Asn) n.2280G>A n.2302G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712229G>C | CA395871807 | NOD2 | c.2237G>C (p.Ser746Thr) c.36G>C c.2318G>C (p.Ser773Thr) c.1814G>C (p.Ser605Thr) c.1652G>C (p.Ser551Thr) n.2327G>C c.1745G>C (p.Ser582Thr) n.2280G>C n.2302G>C | |
| 16 | g.50712229G= | CA2221862879 | NOD2 | c.2237G= (p.Ser746=) c.36G= c.2318G= (p.Ser773=) c.1814G= (p.Ser605=) c.1652G= (p.Ser551=) n.2327G= c.1745G= (p.Ser582=) n.2280G= n.2302G= | |
| 16 | g.50712229G>T | CA395871809 | NOD2 | c.2237G>T (p.Ser746Ile) c.36G>T c.2318G>T (p.Ser773Ile) c.1814G>T (p.Ser605Ile) c.1652G>T (p.Ser551Ile) n.2327G>T c.1745G>T (p.Ser582Ile) n.2280G>T n.2302G>T | |
| 16 | g.50712230T>A | CA395871811 | NOD2 | c.2238T>A (p.Ser746Arg) c.37T>A c.2319T>A (p.Ser773Arg) c.1815T>A (p.Ser605Arg) c.1653T>A (p.Ser551Arg) n.2328T>A c.1746T>A (p.Ser582Arg) n.2281T>A n.2303T>A | |
| 16 | g.50712230T>C | CA495779108 | NOD2 | c.2238T>C (p.Ser746=) c.37T>C c.2319T>C (p.Ser773=) c.1815T>C (p.Ser605=) c.1653T>C (p.Ser551=) n.2328T>C c.1746T>C (p.Ser582=) n.2281T>C n.2303T>C | gnomAD v4 |
| 16 | g.50712230T>G | CA395871813 | NOD2 | c.2238T>G (p.Ser746Arg) c.37T>G c.2319T>G (p.Ser773Arg) c.1815T>G (p.Ser605Arg) c.1653T>G (p.Ser551Arg) n.2328T>G c.1746T>G (p.Ser582Arg) n.2281T>G n.2303T>G | |
| 16 | g.50712231G>A | CA395871815 | NOD2 | c.2239G>A (p.Val747Met) c.38G>A c.2320G>A (p.Val774Met) c.1816G>A (p.Val606Met) c.1654G>A (p.Val552Met) n.2329G>A c.1747G>A (p.Val583Met) n.2282G>A n.2304G>A | |
| 16 | g.50712231G>C | CA395871817 | NOD2 | c.2239G>C (p.Val747Leu) c.38G>C c.2320G>C (p.Val774Leu) c.1816G>C (p.Val606Leu) c.1654G>C (p.Val552Leu) n.2329G>C c.1747G>C (p.Val583Leu) n.2282G>C n.2304G>C | |
| 16 | g.50712231G>T | CA395871819 | NOD2 | c.2239G>T (p.Val747Leu) c.38G>T c.2320G>T (p.Val774Leu) c.1816G>T (p.Val606Leu) c.1654G>T (p.Val552Leu) n.2329G>T c.1747G>T (p.Val583Leu) n.2282G>T n.2304G>T | |
| 16 | g.50712232T>A | CA395871821 | NOD2 | c.2240T>A (p.Val747Glu) c.39T>A c.2321T>A (p.Val774Glu) c.1817T>A (p.Val606Glu) c.1655T>A (p.Val552Glu) n.2330T>A c.1748T>A (p.Val583Glu) n.2283T>A n.2305T>A | |
| 16 | g.50712232T>C | CA395871822 | NOD2 | c.2240T>C (p.Val747Ala) c.39T>C c.2321T>C (p.Val774Ala) c.1817T>C (p.Val606Ala) c.1655T>C (p.Val552Ala) n.2330T>C c.1748T>C (p.Val583Ala) n.2283T>C n.2305T>C | |
| 16 | g.50712232T>G | CA395871824 | NOD2 | c.2240T>G (p.Val747Gly) c.39T>G c.2321T>G (p.Val774Gly) c.1817T>G (p.Val606Gly) c.1655T>G (p.Val552Gly) n.2330T>G c.1748T>G (p.Val583Gly) n.2283T>G n.2305T>G | |
| 16 | g.50712233G>A | CA495779113 | NOD2 | c.2241G>A (p.Val747=) c.40G>A c.2322G>A (p.Val774=) c.1818G>A (p.Val606=) c.1656G>A (p.Val552=) n.2331G>A c.1749G>A (p.Val583=) n.2284G>A n.2306G>A | |
| 16 | g.50712233G>C | CA495779110 | NOD2 | c.2241G>C (p.Val747=) c.40G>C c.2322G>C (p.Val774=) c.1818G>C (p.Val606=) c.1656G>C (p.Val552=) n.2331G>C c.1749G>C (p.Val583=) n.2284G>C n.2306G>C | |
| 16 | g.50712233G>T | CA495779112 | NOD2 | c.2241G>T (p.Val747=) c.40G>T c.2322G>T (p.Val774=) c.1818G>T (p.Val606=) c.1656G>T (p.Val552=) n.2331G>T c.1749G>T (p.Val583=) n.2284G>T n.2306G>T | |
| 16 | g.50712234G>A | CA395871825 | NOD2 | c.2242G>A (p.Gly748Ser) c.41G>A c.2323G>A (p.Gly775Ser) c.1819G>A (p.Gly607Ser) c.1657G>A (p.Gly553Ser) n.2332G>A c.1750G>A (p.Gly584Ser) n.2285G>A n.2307G>A | dbSNP |
| 16 | g.50712234G>C | CA395871827 | NOD2 | c.2242G>C (p.Gly748Arg) c.41G>C c.2323G>C (p.Gly775Arg) c.1819G>C (p.Gly607Arg) c.1657G>C (p.Gly553Arg) n.2332G>C c.1750G>C (p.Gly584Arg) n.2285G>C n.2307G>C | |
| 16 | g.50712234G= | CA2221862881 | NOD2 | c.2242G= (p.Gly748=) c.41G= c.2323G= (p.Gly775=) c.1819G= (p.Gly607=) c.1657G= (p.Gly553=) n.2332G= c.1750G= (p.Gly584=) n.2285G= n.2307G= | |
| 16 | g.50712234G>T | CA395871829 | NOD2 | c.2242G>T (p.Gly748Cys) c.41G>T c.2323G>T (p.Gly775Cys) c.1819G>T (p.Gly607Cys) c.1657G>T (p.Gly553Cys) n.2332G>T c.1750G>T (p.Gly584Cys) n.2285G>T n.2307G>T | |
| 16 | g.50712235G>A | CA395871833 | NOD2 | c.2243G>A (p.Gly748Asp) c.42G>A c.2324G>A (p.Gly775Asp) c.1820G>A (p.Gly607Asp) c.1658G>A (p.Gly553Asp) n.2333G>A c.1751G>A (p.Gly584Asp) n.2286G>A n.2308G>A | ClinVar gnomAD v4 |
| 16 | g.50712235G>C | CA395871835 | NOD2 | c.2243G>C (p.Gly748Ala) c.42G>C c.2324G>C (p.Gly775Ala) c.1820G>C (p.Gly607Ala) c.1658G>C (p.Gly553Ala) n.2333G>C c.1751G>C (p.Gly584Ala) n.2286G>C n.2308G>C | |
| 16 | g.50712235G>T | CA395871832 | NOD2 | c.2243G>T (p.Gly748Val) c.42G>T c.2324G>T (p.Gly775Val) c.1820G>T (p.Gly607Val) c.1658G>T (p.Gly553Val) n.2333G>T c.1751G>T (p.Gly584Val) n.2286G>T n.2308G>T | |
| 16 | g.50712236C>A | CA495779114 | NOD2 | c.2244C>A (p.Gly748=) c.43C>A c.2325C>A (p.Gly775=) c.1821C>A (p.Gly607=) c.1659C>A (p.Gly553=) n.2334C>A c.1752C>A (p.Gly584=) n.2287C>A n.2309C>A | |
| 16 | g.50712236C= | CA2221862884 | NOD2 | c.2244C= (p.Gly748=) c.43C= c.2325C= (p.Gly775=) c.1821C= (p.Gly607=) c.1659C= (p.Gly553=) n.2334C= c.1752C= (p.Gly584=) n.2287C= n.2309C= | |
| 16 | g.50712236C>G | CA495779115 | NOD2 | c.2244C>G (p.Gly748=) c.43C>G c.2325C>G (p.Gly775=) c.1821C>G (p.Gly607=) c.1659C>G (p.Gly553=) n.2334C>G c.1752C>G (p.Gly584=) n.2287C>G n.2309C>G | |
| 16 | g.50712236C>T | CA281264345 | NOD2 | c.2244C>T (p.Gly748=) c.43C>T c.2325C>T (p.Gly775=) c.1821C>T (p.Gly607=) c.1659C>T (p.Gly553=) n.2334C>T c.1752C>T (p.Gly584=) n.2287C>T n.2309C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712237C>A | CA395871838 | NOD2 | c.2245C>A (p.Pro749Thr) c.44C>A c.2326C>A (p.Pro776Thr) c.1822C>A (p.Pro608Thr) c.1660C>A (p.Pro554Thr) n.2335C>A c.1753C>A (p.Pro585Thr) n.2288C>A n.2310C>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712237C= | CA2221862887 | NOD2 | c.2245C= (p.Pro749=) c.44C= c.2326C= (p.Pro776=) c.1822C= (p.Pro608=) c.1660C= (p.Pro554=) n.2335C= c.1753C= (p.Pro585=) n.2288C= n.2310C= | |
| 16 | g.50712237C>G | CA395871839 | NOD2 | c.2245C>G (p.Pro749Ala) c.44C>G c.2326C>G (p.Pro776Ala) c.1822C>G (p.Pro608Ala) c.1660C>G (p.Pro554Ala) n.2335C>G c.1753C>G (p.Pro585Ala) n.2288C>G n.2310C>G | |
| 16 | g.50712237C>T | CA395871842 | NOD2 | c.2245C>T (p.Pro749Ser) c.44C>T c.2326C>T (p.Pro776Ser) c.1822C>T (p.Pro608Ser) c.1660C>T (p.Pro554Ser) n.2335C>T c.1753C>T (p.Pro585Ser) n.2288C>T n.2310C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712238C>A | CA395871844 | NOD2 | c.2246C>A (p.Pro749His) c.45C>A c.2327C>A (p.Pro776His) c.1823C>A (p.Pro608His) c.1661C>A (p.Pro554His) n.2336C>A c.1754C>A (p.Pro585His) n.2289C>A n.2311C>A | gnomAD v4 |
| 16 | g.50712238C>G | CA395871846 | NOD2 | c.2246C>G (p.Pro749Arg) c.45C>G c.2327C>G (p.Pro776Arg) c.1823C>G (p.Pro608Arg) c.1661C>G (p.Pro554Arg) n.2336C>G c.1754C>G (p.Pro585Arg) n.2289C>G n.2311C>G | |
| 16 | g.50712238C>T | CA395871848 | NOD2 | c.2246C>T (p.Pro749Leu) c.45C>T c.2327C>T (p.Pro776Leu) c.1823C>T (p.Pro608Leu) c.1661C>T (p.Pro554Leu) n.2336C>T c.1754C>T (p.Pro585Leu) n.2289C>T n.2311C>T | gnomAD v4 |
| 16 | g.50712239C>A | CA495779117 | NOD2 | c.2247C>A (p.Pro749=) c.46C>A c.2328C>A (p.Pro776=) c.1824C>A (p.Pro608=) c.1662C>A (p.Pro554=) n.2337C>A c.1755C>A (p.Pro585=) n.2290C>A n.2312C>A | |
| 16 | g.50712239C>G | CA495779119 | NOD2 | c.2247C>G (p.Pro749=) c.46C>G c.2328C>G (p.Pro776=) c.1824C>G (p.Pro608=) c.1662C>G (p.Pro554=) n.2337C>G c.1755C>G (p.Pro585=) n.2290C>G n.2312C>G | |
| 16 | g.50712239C>T | CA495779118 | NOD2 | c.2247C>T (p.Pro749=) c.46C>T c.2328C>T (p.Pro776=) c.1824C>T (p.Pro608=) c.1662C>T (p.Pro554=) n.2337C>T c.1755C>T (p.Pro585=) n.2290C>T n.2312C>T | |
| 16 | g.50712240A>C | CA395871850 | NOD2 | c.2248A>C (p.Thr750Pro) c.47A>C c.2329A>C (p.Thr777Pro) c.1825A>C (p.Thr609Pro) c.1663A>C (p.Thr555Pro) n.2338A>C c.1756A>C (p.Thr586Pro) n.2291A>C n.2313A>C | |
| 16 | g.50712240A>G | CA395871852 | NOD2 | c.2248A>G (p.Thr750Ala) c.47A>G c.2329A>G (p.Thr777Ala) c.1825A>G (p.Thr609Ala) c.1663A>G (p.Thr555Ala) n.2338A>G c.1756A>G (p.Thr586Ala) n.2291A>G n.2313A>G | dbSNP |
| 16 | g.50712240A>T | CA395871854 | NOD2 | c.2248A>T (p.Thr750Ser) c.47A>T c.2329A>T (p.Thr777Ser) c.1825A>T (p.Thr609Ser) c.1663A>T (p.Thr555Ser) n.2338A>T c.1756A>T (p.Thr586Ser) n.2291A>T n.2313A>T | |
| 16 | g.50712240_50712241delinsAC | CA2221862891 | NOD2 | c.2248_2249delinsAC (p.Thr750=) c.47_48delinsAC c.2329_2330delinsAC (p.Thr777=) c.1825_1826delinsAC (p.Thr609=) c.1663_1664delinsAC (p.Thr555=) n.2338_2339delinsAC c.1756_1757delinsAC (p.Thr586=) n.2291_2292delinsAC n.2313_2314delinsAC | |
| 16 | g.50712241del | CA2221862894 | NOD2 | c.2249del (p.Thr750MetfsTer?) c.48del c.2330del (p.Thr777MetfsTer?) c.1826del (p.Thr609MetfsTer?) c.1664del (p.Thr555MetfsTer?) n.2339del c.1757del (p.Thr586MetfsTer?) n.2292del n.2314del | dbSNP |
| 16 | g.50712241C>A | CA8051753 | NOD2 | c.2249C>A (p.Thr750Asn) c.48C>A c.2330C>A (p.Thr777Asn) c.1826C>A (p.Thr609Asn) c.1664C>A (p.Thr555Asn) n.2339C>A c.1757C>A (p.Thr586Asn) n.2292C>A n.2314C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712241C= | CA2221862895 | NOD2 | c.2249C= (p.Thr750=) c.48C= c.2330C= (p.Thr777=) c.1826C= (p.Thr609=) c.1664C= (p.Thr555=) n.2339C= c.1757C= (p.Thr586=) n.2292C= n.2314C= | |
| 16 | g.50712241C>G | CA395871857 | NOD2 | c.2249C>G (p.Thr750Ser) c.48C>G c.2330C>G (p.Thr777Ser) c.1826C>G (p.Thr609Ser) c.1664C>G (p.Thr555Ser) n.2339C>G c.1757C>G (p.Thr586Ser) n.2292C>G n.2314C>G | |
| 16 | g.50712241C>T | CA395871858 | NOD2 | c.2249C>T (p.Thr750Ile) c.48C>T c.2330C>T (p.Thr777Ile) c.1826C>T (p.Thr609Ile) c.1664C>T (p.Thr555Ile) n.2339C>T c.1757C>T (p.Thr586Ile) n.2292C>T n.2314C>T | |
| 16 | g.50712242T>A | CA495779121 | NOD2 | c.2250T>A (p.Thr750=) c.49T>A c.2331T>A (p.Thr777=) c.1827T>A (p.Thr609=) c.1665T>A (p.Thr555=) n.2340T>A c.1758T>A (p.Thr586=) n.2293T>A n.2315T>A | |
| 16 | g.50712242T>C | CA495779123 | NOD2 | c.2250T>C (p.Thr750=) c.49T>C c.2331T>C (p.Thr777=) c.1827T>C (p.Thr609=) c.1665T>C (p.Thr555=) n.2340T>C c.1758T>C (p.Thr586=) n.2293T>C n.2315T>C | |
| 16 | g.50712242T>G | CA495779124 | NOD2 | c.2250T>G (p.Thr750=) c.49T>G c.2331T>G (p.Thr777=) c.1827T>G (p.Thr609=) c.1665T>G (p.Thr555=) n.2340T>G c.1758T>G (p.Thr586=) n.2293T>G n.2315T>G | gnomAD v4 |
| 16 | g.50712243G>A | CA150256 | NOD2 | c.2251G>A (p.Glu751Lys) c.50G>A c.2332G>A (p.Glu778Lys) c.1828G>A (p.Glu610Lys) c.1666G>A (p.Glu556Lys) n.2341G>A c.1759G>A (p.Glu587Lys) n.2294G>A n.2316G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712243G>C | CA395871863 | NOD2 | c.2251G>C (p.Glu751Gln) c.50G>C c.2332G>C (p.Glu778Gln) c.1828G>C (p.Glu610Gln) c.1666G>C (p.Glu556Gln) n.2341G>C c.1759G>C (p.Glu587Gln) n.2294G>C n.2316G>C | |
| 16 | g.50712243G= | CA2221862900 | NOD2 | c.2251G= (p.Glu751=) c.50G= c.2332G= (p.Glu778=) c.1828G= (p.Glu610=) c.1666G= (p.Glu556=) n.2341G= c.1759G= (p.Glu587=) n.2294G= n.2316G= | |
| 16 | g.50712243G>T | CA395871861 | NOD2 | c.2251G>T (p.Glu751Ter) c.50G>T c.2332G>T (p.Glu778Ter) c.1828G>T (p.Glu610Ter) c.1666G>T (p.Glu556Ter) n.2341G>T c.1759G>T (p.Glu587Ter) n.2294G>T n.2316G>T | |
| 16 | g.50712244A>C | CA395871865 | NOD2 | c.2252A>C (p.Glu751Ala) c.51A>C c.2333A>C (p.Glu778Ala) c.1829A>C (p.Glu610Ala) c.1667A>C (p.Glu556Ala) n.2342A>C c.1760A>C (p.Glu587Ala) n.2295A>C n.2317A>C | |
| 16 | g.50712244A>G | CA395871866 | NOD2 | c.2252A>G (p.Glu751Gly) c.51A>G c.2333A>G (p.Glu778Gly) c.1829A>G (p.Glu610Gly) c.1667A>G (p.Glu556Gly) n.2342A>G c.1760A>G (p.Glu587Gly) n.2295A>G n.2317A>G | |
| 16 | g.50712244A>T | CA395871868 | NOD2 | c.2252A>T (p.Glu751Val) c.51A>T c.2333A>T (p.Glu778Val) c.1829A>T (p.Glu610Val) c.1667A>T (p.Glu556Val) n.2342A>T c.1760A>T (p.Glu587Val) n.2295A>T n.2317A>T | |
| 16 | g.50712245G>A | CA495779125 | NOD2 | c.2253G>A (p.Glu751=) c.52G>A c.2334G>A (p.Glu778=) c.1830G>A (p.Glu610=) c.1668G>A (p.Glu556=) n.2343G>A c.1761G>A (p.Glu587=) n.2296G>A n.2318G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712245G>C | CA395871870 | NOD2 | c.2253G>C (p.Glu751Asp) c.52G>C c.2334G>C (p.Glu778Asp) c.1830G>C (p.Glu610Asp) c.1668G>C (p.Glu556Asp) n.2343G>C c.1761G>C (p.Glu587Asp) n.2296G>C n.2318G>C | ClinVar |
| 16 | g.50712245G= | CA2221862906 | NOD2 | c.2253G= (p.Glu751=) c.52G= c.2334G= (p.Glu778=) c.1830G= (p.Glu610=) c.1668G= (p.Glu556=) n.2343G= c.1761G= (p.Glu587=) n.2296G= n.2318G= | |
| 16 | g.50712245G>T | CA395871872 | NOD2 | c.2253G>T (p.Glu751Asp) c.52G>T c.2334G>T (p.Glu778Asp) c.1830G>T (p.Glu610Asp) c.1668G>T (p.Glu556Asp) n.2343G>T c.1761G>T (p.Glu587Asp) n.2296G>T n.2318G>T | |
| 16 | g.50712246T>A | CA395871878 | NOD2 | c.2254T>A (p.Cys752Ser) c.53T>A c.2335T>A (p.Cys779Ser) c.1831T>A (p.Cys611Ser) c.1669T>A (p.Cys557Ser) n.2344T>A c.1762T>A (p.Cys588Ser) n.2297T>A n.2319T>A | |
| 16 | g.50712246T>C | CA395871874 | NOD2 | c.2254T>C (p.Cys752Arg) c.53T>C c.2335T>C (p.Cys779Arg) c.1831T>C (p.Cys611Arg) c.1669T>C (p.Cys557Arg) n.2344T>C c.1762T>C (p.Cys588Arg) n.2297T>C n.2319T>C | gnomAD v4 |
| 16 | g.50712246T>G | CA395871876 | NOD2 | c.2254T>G (p.Cys752Gly) c.53T>G c.2335T>G (p.Cys779Gly) c.1831T>G (p.Cys611Gly) c.1669T>G (p.Cys557Gly) n.2344T>G c.1762T>G (p.Cys588Gly) n.2297T>G n.2319T>G | |
| 16 | g.50712247G>A | CA8051754 | NOD2 | c.2255G>A (p.Cys752Tyr) c.54G>A c.2336G>A (p.Cys779Tyr) c.1832G>A (p.Cys611Tyr) c.1670G>A (p.Cys557Tyr) n.2345G>A c.1763G>A (p.Cys588Tyr) n.2298G>A n.2320G>A | dbSNP ExAC gnomAD v2 |
| 16 | g.50712247G>C | CA395871881 | NOD2 | c.2255G>C (p.Cys752Ser) c.54G>C c.2336G>C (p.Cys779Ser) c.1832G>C (p.Cys611Ser) c.1670G>C (p.Cys557Ser) n.2345G>C c.1763G>C (p.Cys588Ser) n.2298G>C n.2320G>C | |
| 16 | g.50712247G= | CA2221862911 | NOD2 | c.2255G= (p.Cys752=) c.54G= c.2336G= (p.Cys779=) c.1832G= (p.Cys611=) c.1670G= (p.Cys557=) n.2345G= c.1763G= (p.Cys588=) n.2298G= n.2320G= | |
| 16 | g.50712247G>T | CA395871883 | NOD2 | c.2255G>T (p.Cys752Phe) c.54G>T c.2336G>T (p.Cys779Phe) c.1832G>T (p.Cys611Phe) c.1670G>T (p.Cys557Phe) n.2345G>T c.1763G>T (p.Cys588Phe) n.2298G>T n.2320G>T | gnomAD v4 |
| 16 | g.50712248T>A | CA395871886 | NOD2 | c.2256T>A (p.Cys752Ter) c.55T>A c.2337T>A (p.Cys779Ter) c.1833T>A (p.Cys611Ter) c.1671T>A (p.Cys557Ter) n.2346T>A c.1764T>A (p.Cys588Ter) n.2299T>A n.2321T>A | |
| 16 | g.50712248T>C | CA495779129 | NOD2 | c.2256T>C (p.Cys752=) c.55T>C c.2337T>C (p.Cys779=) c.1833T>C (p.Cys611=) c.1671T>C (p.Cys557=) n.2346T>C c.1764T>C (p.Cys588=) n.2299T>C n.2321T>C | |
| 16 | g.50712248T>G | CA395871887 | NOD2 | c.2256T>G (p.Cys752Trp) c.55T>G c.2337T>G (p.Cys779Trp) c.1833T>G (p.Cys611Trp) c.1671T>G (p.Cys557Trp) n.2346T>G c.1764T>G (p.Cys588Trp) n.2299T>G n.2321T>G | |
| 16 | g.50712249G>A | CA395871891 | NOD2 | c.2257G>A (p.Ala753Thr) c.56G>A c.2338G>A (p.Ala780Thr) c.1834G>A (p.Ala612Thr) c.1672G>A (p.Ala558Thr) n.2347G>A c.1765G>A (p.Ala589Thr) n.2300G>A n.2322G>A | dbSNP gnomAD v2 |
| 16 | g.50712249G>C | CA395871890 | NOD2 | c.2257G>C (p.Ala753Pro) c.56G>C c.2338G>C (p.Ala780Pro) c.1834G>C (p.Ala612Pro) c.1672G>C (p.Ala558Pro) n.2347G>C c.1765G>C (p.Ala589Pro) n.2300G>C n.2322G>C | |
| 16 | g.50712249G= | CA2221862914 | NOD2 | c.2257G= (p.Ala753=) c.56G= c.2338G= (p.Ala780=) c.1834G= (p.Ala612=) c.1672G= (p.Ala558=) n.2347G= c.1765G= (p.Ala589=) n.2300G= n.2322G= | |
| 16 | g.50712249G>T | CA395871888 | NOD2 | c.2257G>T (p.Ala753Ser) c.56G>T c.2338G>T (p.Ala780Ser) c.1834G>T (p.Ala612Ser) c.1672G>T (p.Ala558Ser) n.2347G>T c.1765G>T (p.Ala589Ser) n.2300G>T n.2322G>T | |
| 16 | g.50712250C>A | CA395871894 | NOD2 | c.2258C>A (p.Ala753Asp) c.57C>A c.2339C>A (p.Ala780Asp) c.1835C>A (p.Ala612Asp) c.1673C>A (p.Ala558Asp) n.2348C>A c.1766C>A (p.Ala589Asp) n.2301C>A n.2323C>A | |
| 16 | g.50712250C>G | CA395871896 | NOD2 | c.2258C>G (p.Ala753Gly) c.57C>G c.2339C>G (p.Ala780Gly) c.1835C>G (p.Ala612Gly) c.1673C>G (p.Ala558Gly) n.2348C>G c.1766C>G (p.Ala589Gly) n.2301C>G n.2323C>G | |
| 16 | g.50712250C>T | CA395871895 | NOD2 | c.2258C>T (p.Ala753Val) c.57C>T c.2339C>T (p.Ala780Val) c.1835C>T (p.Ala612Val) c.1673C>T (p.Ala558Val) n.2348C>T c.1766C>T (p.Ala589Val) n.2301C>T n.2323C>T | |
| 16 | g.50712251T>A | CA495779130 | NOD2 | c.2259T>A (p.Ala753=) c.58T>A c.2340T>A (p.Ala780=) c.1836T>A (p.Ala612=) c.1674T>A (p.Ala558=) n.2349T>A c.1767T>A (p.Ala589=) n.2302T>A n.2324T>A | |
| 16 | g.50712251T>C | CA8051755 | NOD2 | c.2259T>C (p.Ala753=) c.58T>C c.2340T>C (p.Ala780=) c.1836T>C (p.Ala612=) c.1674T>C (p.Ala558=) n.2349T>C c.1767T>C (p.Ala589=) n.2302T>C n.2324T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712251T>G | CA495779131 | NOD2 | c.2259T>G (p.Ala753=) c.58T>G c.2340T>G (p.Ala780=) c.1836T>G (p.Ala612=) c.1674T>G (p.Ala558=) n.2349T>G c.1767T>G (p.Ala589=) n.2302T>G n.2324T>G | |
| 16 | g.50712251T= | CA2221862916 | NOD2 | c.2259T= (p.Ala753=) c.58T= c.2340T= (p.Ala780=) c.1836T= (p.Ala612=) c.1674T= (p.Ala558=) n.2349T= c.1767T= (p.Ala589=) n.2302T= n.2324T= | |
| 16 | g.50712252G>A | CA395871903 | NOD2 | c.2260G>A (p.Ala754Thr) c.59G>A c.2341G>A (p.Ala781Thr) c.1837G>A (p.Ala613Thr) c.1675G>A (p.Ala559Thr) n.2350G>A c.1768G>A (p.Ala590Thr) n.2303G>A n.2325G>A | |
| 16 | g.50712252G>C | CA395871899 | NOD2 | c.2260G>C (p.Ala754Pro) c.59G>C c.2341G>C (p.Ala781Pro) c.1837G>C (p.Ala613Pro) c.1675G>C (p.Ala559Pro) n.2350G>C c.1768G>C (p.Ala590Pro) n.2303G>C n.2325G>C | |
| 16 | g.50712252G>T | CA395871901 | NOD2 | c.2260G>T (p.Ala754Ser) c.59G>T c.2341G>T (p.Ala781Ser) c.1837G>T (p.Ala613Ser) c.1675G>T (p.Ala559Ser) n.2350G>T c.1768G>T (p.Ala590Ser) n.2303G>T n.2325G>T | |
| 16 | g.50712253C>A | CA395871905 | NOD2 | c.2261C>A (p.Ala754Asp) c.60C>A c.2342C>A (p.Ala781Asp) c.1838C>A (p.Ala613Asp) c.1676C>A (p.Ala559Asp) n.2351C>A c.1769C>A (p.Ala590Asp) n.2304C>A n.2326C>A | |
| 16 | g.50712253C= | CA2221862920 | NOD2 | c.2261C= (p.Ala754=) c.60C= c.2342C= (p.Ala781=) c.1838C= (p.Ala613=) c.1676C= (p.Ala559=) n.2351C= c.1769C= (p.Ala590=) n.2304C= n.2326C= | |
| 16 | g.50712253C>G | CA395871907 | NOD2 | c.2261C>G (p.Ala754Gly) c.60C>G c.2342C>G (p.Ala781Gly) c.1838C>G (p.Ala613Gly) c.1676C>G (p.Ala559Gly) n.2351C>G c.1769C>G (p.Ala590Gly) n.2304C>G n.2326C>G | |
| 16 | g.50712253C>T | CA281264410 | NOD2 | c.2261C>T (p.Ala754Val) c.60C>T c.2342C>T (p.Ala781Val) c.1838C>T (p.Ala613Val) c.1676C>T (p.Ala559Val) n.2351C>T c.1769C>T (p.Ala590Val) n.2304C>T n.2326C>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.50712254C>A | CA495779133 | NOD2 | c.2262C>A (p.Ala754=) c.61C>A c.2343C>A (p.Ala781=) c.1839C>A (p.Ala613=) c.1677C>A (p.Ala559=) n.2352C>A c.1770C>A (p.Ala590=) n.2305C>A n.2327C>A | |
| 16 | g.50712254C= | CA2221862922 | NOD2 | c.2262C= (p.Ala754=) c.61C= c.2343C= (p.Ala781=) c.1839C= (p.Ala613=) c.1677C= (p.Ala559=) n.2352C= c.1770C= (p.Ala590=) n.2305C= n.2327C= | |
| 16 | g.50712254C>G | CA495779135 | NOD2 | c.2262C>G (p.Ala754=) c.61C>G c.2343C>G (p.Ala781=) c.1839C>G (p.Ala613=) c.1677C>G (p.Ala559=) n.2352C>G c.1770C>G (p.Ala590=) n.2305C>G n.2327C>G | gnomAD v4 |
| 16 | g.50712254C>T | CA495779137 | NOD2 | c.2262C>T (p.Ala754=) c.61C>T c.2343C>T (p.Ala781=) c.1839C>T (p.Ala613=) c.1677C>T (p.Ala559=) n.2352C>T c.1770C>T (p.Ala590=) n.2305C>T n.2327C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712254_50712316del | CA2633164737 | NOD2 | c.2262_2324del (p.Leu755_Val775del) c.61_123del c.2343_2405del (p.Leu782_Val802del) c.1839_1901del (p.Leu614_Val634del) c.1677_1739del (p.Leu560_Val580del) n.2352_2414del c.1770_1832del (p.Leu591_Val611del) n.2305_2367del n.2327_2389del | gnomAD v4 |
| 16 | g.50712255C>A | CA395871913 | NOD2 | c.2263C>A (p.Leu755Met) c.62C>A c.2344C>A (p.Leu782Met) c.1840C>A (p.Leu614Met) c.1678C>A (p.Leu560Met) n.2353C>A c.1771C>A (p.Leu591Met) n.2306C>A n.2328C>A | |
| 16 | g.50712255C= | CA2221862926 | NOD2 | c.2263C= (p.Leu755=) c.62C= c.2344C= (p.Leu782=) c.1840C= (p.Leu614=) c.1678C= (p.Leu560=) n.2353C= c.1771C= (p.Leu591=) n.2306C= n.2328C= | |
| 16 | g.50712255C>G | CA395871911 | NOD2 | c.2263C>G (p.Leu755Val) c.62C>G c.2344C>G (p.Leu782Val) c.1840C>G (p.Leu614Val) c.1678C>G (p.Leu560Val) n.2353C>G c.1771C>G (p.Leu591Val) n.2306C>G n.2328C>G | |
| 16 | g.50712255C>T | CA281264417 | NOD2 | c.2263C>T (p.Leu755=) c.62C>T c.2344C>T (p.Leu782=) c.1840C>T (p.Leu614=) c.1678C>T (p.Leu560=) n.2353C>T c.1771C>T (p.Leu591=) n.2306C>T n.2328C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712256T>A | CA395871915 | NOD2 | c.2264T>A (p.Leu755Gln) c.63T>A c.2345T>A (p.Leu782Gln) c.1841T>A (p.Leu614Gln) c.1679T>A (p.Leu560Gln) n.2354T>A c.1772T>A (p.Leu591Gln) n.2307T>A n.2329T>A | |
| 16 | g.50712256T>C | CA395871917 | NOD2 | c.2264T>C (p.Leu755Pro) c.63T>C c.2345T>C (p.Leu782Pro) c.1841T>C (p.Leu614Pro) c.1679T>C (p.Leu560Pro) n.2354T>C c.1772T>C (p.Leu591Pro) n.2307T>C n.2329T>C | |
| 16 | g.50712256T>G | CA395871919 | NOD2 | c.2264T>G (p.Leu755Arg) c.63T>G c.2345T>G (p.Leu782Arg) c.1841T>G (p.Leu614Arg) c.1679T>G (p.Leu560Arg) n.2354T>G c.1772T>G (p.Leu591Arg) n.2307T>G n.2329T>G | |
| 16 | g.50712257G>A | CA495779139 | NOD2 | c.2265G>A (p.Leu755=) c.64G>A c.2346G>A (p.Leu782=) c.1842G>A (p.Leu614=) c.1680G>A (p.Leu560=) n.2355G>A c.1773G>A (p.Leu591=) n.2308G>A n.2330G>A | |
| 16 | g.50712257G>C | CA495779140 | NOD2 | c.2265G>C (p.Leu755=) c.64G>C c.2346G>C (p.Leu782=) c.1842G>C (p.Leu614=) c.1680G>C (p.Leu560=) n.2355G>C c.1773G>C (p.Leu591=) n.2308G>C n.2330G>C | |
| 16 | g.50712257G>T | CA495779141 | NOD2 | c.2265G>T (p.Leu755=) c.64G>T c.2346G>T (p.Leu782=) c.1842G>T (p.Leu614=) c.1680G>T (p.Leu560=) n.2355G>T c.1773G>T (p.Leu591=) n.2308G>T n.2330G>T | |
| 16 | g.50712258G>A | CA395871921 | NOD2 | c.2266G>A (p.Ala756Thr) c.65G>A c.2347G>A (p.Ala783Thr) c.1843G>A (p.Ala615Thr) c.1681G>A (p.Ala561Thr) n.2356G>A c.1774G>A (p.Ala592Thr) n.2309G>A n.2331G>A | |
| 16 | g.50712258G>C | CA395871923 | NOD2 | c.2266G>C (p.Ala756Pro) c.65G>C c.2347G>C (p.Ala783Pro) c.1843G>C (p.Ala615Pro) c.1681G>C (p.Ala561Pro) n.2356G>C c.1774G>C (p.Ala592Pro) n.2309G>C n.2331G>C | |
| 16 | g.50712258G>T | CA395871925 | NOD2 | c.2266G>T (p.Ala756Ser) c.65G>T c.2347G>T (p.Ala783Ser) c.1843G>T (p.Ala615Ser) c.1681G>T (p.Ala561Ser) n.2356G>T c.1774G>T (p.Ala592Ser) n.2309G>T n.2331G>T | |
| 16 | g.50712259C>A | CA281264422 | NOD2 | c.2267C>A (p.Ala756Asp) c.66C>A c.2348C>A (p.Ala783Asp) c.1844C>A (p.Ala615Asp) c.1682C>A (p.Ala561Asp) n.2357C>A c.1775C>A (p.Ala592Asp) n.2310C>A n.2332C>A | dbSNP |
| 16 | g.50712259C= | CA2221862932 | NOD2 | c.2267C= (p.Ala756=) c.66C= c.2348C= (p.Ala783=) c.1844C= (p.Ala615=) c.1682C= (p.Ala561=) n.2357C= c.1775C= (p.Ala592=) n.2310C= n.2332C= | |
| 16 | g.50712259C>G | CA395871931 | NOD2 | c.2267C>G (p.Ala756Gly) c.66C>G c.2348C>G (p.Ala783Gly) c.1844C>G (p.Ala615Gly) c.1682C>G (p.Ala561Gly) n.2357C>G c.1775C>G (p.Ala592Gly) n.2310C>G n.2332C>G | ClinVar gnomAD v4 |
| 16 | g.50712259C>T | CA395871928 | NOD2 | c.2267C>T (p.Ala756Val) c.66C>T c.2348C>T (p.Ala783Val) c.1844C>T (p.Ala615Val) c.1682C>T (p.Ala561Val) n.2357C>T c.1775C>T (p.Ala592Val) n.2310C>T n.2332C>T | dbSNP gnomAD v2 |
| 16 | g.50712260C>A | CA495779145 | NOD2 | c.2268C>A (p.Ala756=) c.67C>A c.2349C>A (p.Ala783=) c.1845C>A (p.Ala615=) c.1683C>A (p.Ala561=) n.2358C>A c.1776C>A (p.Ala592=) n.2311C>A n.2333C>A | |
| 16 | g.50712260C= | CA2221862936 | NOD2 | c.2268C= (p.Ala756=) c.67C= c.2349C= (p.Ala783=) c.1845C= (p.Ala615=) c.1683C= (p.Ala561=) n.2358C= c.1776C= (p.Ala592=) n.2311C= n.2333C= | |
| 16 | g.50712260C>G | CA495779144 | NOD2 | c.2268C>G (p.Ala756=) c.67C>G c.2349C>G (p.Ala783=) c.1845C>G (p.Ala615=) c.1683C>G (p.Ala561=) n.2358C>G c.1776C>G (p.Ala592=) n.2311C>G n.2333C>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.50712260C>T | CA495779143 | NOD2 | c.2268C>T (p.Ala756=) c.67C>T c.2349C>T (p.Ala783=) c.1845C>T (p.Ala615=) c.1683C>T (p.Ala561=) n.2358C>T c.1776C>T (p.Ala592=) n.2311C>T n.2333C>T | ClinVar dbSNP |
| 16 | g.50712261T>A | CA395871933 | NOD2 | c.2269T>A (p.Phe757Ile) c.68T>A c.2350T>A (p.Phe784Ile) c.1846T>A (p.Phe616Ile) c.1684T>A (p.Phe562Ile) n.2359T>A c.1777T>A (p.Phe593Ile) n.2312T>A n.2334T>A | |
| 16 | g.50712261T>C | CA395871935 | NOD2 | c.2269T>C (p.Phe757Leu) c.68T>C c.2350T>C (p.Phe784Leu) c.1846T>C (p.Phe616Leu) c.1684T>C (p.Phe562Leu) n.2359T>C c.1777T>C (p.Phe593Leu) n.2312T>C n.2334T>C | |
| 16 | g.50712261T>G | CA395871937 | NOD2 | c.2269T>G (p.Phe757Val) c.68T>G c.2350T>G (p.Phe784Val) c.1846T>G (p.Phe616Val) c.1684T>G (p.Phe562Val) n.2359T>G c.1777T>G (p.Phe593Val) n.2312T>G n.2334T>G | |
| 16 | g.50712262T>A | CA395871939 | NOD2 | c.2270T>A (p.Phe757Tyr) c.69T>A c.2351T>A (p.Phe784Tyr) c.1847T>A (p.Phe616Tyr) c.1685T>A (p.Phe562Tyr) n.2360T>A c.1778T>A (p.Phe593Tyr) n.2313T>A n.2335T>A | |
| 16 | g.50712262T>C | CA395871941 | NOD2 | c.2270T>C (p.Phe757Ser) c.69T>C c.2351T>C (p.Phe784Ser) c.1847T>C (p.Phe616Ser) c.1685T>C (p.Phe562Ser) n.2360T>C c.1778T>C (p.Phe593Ser) n.2313T>C n.2335T>C | |
| 16 | g.50712262T>G | CA395871943 | NOD2 | c.2270T>G (p.Phe757Cys) c.69T>G c.2351T>G (p.Phe784Cys) c.1847T>G (p.Phe616Cys) c.1685T>G (p.Phe562Cys) n.2360T>G c.1778T>G (p.Phe593Cys) n.2313T>G n.2335T>G | |
| 16 | g.50712263T>A | CA395871944 | NOD2 | c.2271T>A (p.Phe757Leu) c.70T>A c.2352T>A (p.Phe784Leu) c.1848T>A (p.Phe616Leu) c.1686T>A (p.Phe562Leu) n.2361T>A c.1779T>A (p.Phe593Leu) n.2314T>A n.2336T>A | |
| 16 | g.50712263T>C | CA495779147 | NOD2 | c.2271T>C (p.Phe757=) c.70T>C c.2352T>C (p.Phe784=) c.1848T>C (p.Phe616=) c.1686T>C (p.Phe562=) n.2361T>C c.1779T>C (p.Phe593=) n.2314T>C n.2336T>C | |
| 16 | g.50712263T>G | CA395871945 | NOD2 | c.2271T>G (p.Phe757Leu) c.70T>G c.2352T>G (p.Phe784Leu) c.1848T>G (p.Phe616Leu) c.1686T>G (p.Phe562Leu) n.2361T>G c.1779T>G (p.Phe593Leu) n.2314T>G n.2336T>G | |
| 16 | g.50712264G>A | CA395871947 | NOD2 | c.2272G>A (p.Val758Met) c.71G>A c.2353G>A (p.Val785Met) c.1849G>A (p.Val617Met) c.1687G>A (p.Val563Met) n.2362G>A c.1780G>A (p.Val594Met) n.2315G>A n.2337G>A | dbSNP gnomAD v2 |
| 16 | g.50712264G>C | CA395871948 | NOD2 | c.2272G>C (p.Val758Leu) c.71G>C c.2353G>C (p.Val785Leu) c.1849G>C (p.Val617Leu) c.1687G>C (p.Val563Leu) n.2362G>C c.1780G>C (p.Val594Leu) n.2315G>C n.2337G>C | |
| 16 | g.50712264G= | CA2221862937 | NOD2 | c.2272G= (p.Val758=) c.71G= c.2353G= (p.Val785=) c.1849G= (p.Val617=) c.1687G= (p.Val563=) n.2362G= c.1780G= (p.Val594=) n.2315G= n.2337G= | |
| 16 | g.50712264G>T | CA395871950 | NOD2 | c.2272G>T (p.Val758Leu) c.71G>T c.2353G>T (p.Val785Leu) c.1849G>T (p.Val617Leu) c.1687G>T (p.Val563Leu) n.2362G>T c.1780G>T (p.Val594Leu) n.2315G>T n.2337G>T | |
| 16 | g.50712265T>A | CA395871952 | NOD2 | c.2273T>A (p.Val758Glu) c.72T>A c.2354T>A (p.Val785Glu) c.1850T>A (p.Val617Glu) c.1688T>A (p.Val563Glu) n.2363T>A c.1781T>A (p.Val594Glu) n.2316T>A n.2338T>A | gnomAD v4 |
| 16 | g.50712265T>C | CA395871956 | NOD2 | c.2273T>C (p.Val758Ala) c.72T>C c.2354T>C (p.Val785Ala) c.1850T>C (p.Val617Ala) c.1688T>C (p.Val563Ala) n.2363T>C c.1781T>C (p.Val594Ala) n.2316T>C n.2338T>C | |
| 16 | g.50712265T>G | CA395871954 | NOD2 | c.2273T>G (p.Val758Gly) c.72T>G c.2354T>G (p.Val785Gly) c.1850T>G (p.Val617Gly) c.1688T>G (p.Val563Gly) n.2363T>G c.1781T>G (p.Val594Gly) n.2316T>G n.2338T>G | |
| 16 | g.50712266G>A | CA495779150 | NOD2 | c.2274G>A (p.Val758=) c.73G>A c.2355G>A (p.Val785=) c.1851G>A (p.Val617=) c.1689G>A (p.Val563=) n.2364G>A c.1782G>A (p.Val594=) n.2317G>A n.2339G>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.50712266G>C | CA495779152 | NOD2 | c.2274G>C (p.Val758=) c.73G>C c.2355G>C (p.Val785=) c.1851G>C (p.Val617=) c.1689G>C (p.Val563=) n.2364G>C c.1782G>C (p.Val594=) n.2317G>C n.2339G>C | |
| 16 | g.50712266G= | CA2221862939 | NOD2 | c.2274G= (p.Val758=) c.73G= c.2355G= (p.Val785=) c.1851G= (p.Val617=) c.1689G= (p.Val563=) n.2364G= c.1782G= (p.Val594=) n.2317G= n.2339G= | |
| 16 | g.50712266G>T | CA495779151 | NOD2 | c.2274G>T (p.Val758=) c.73G>T c.2355G>T (p.Val785=) c.1851G>T (p.Val617=) c.1689G>T (p.Val563=) n.2364G>T c.1782G>T (p.Val594=) n.2317G>T n.2339G>T | |
| 16 | g.50712267C>A | CA395871958 | NOD2 | c.2275C>A (p.Leu759Met) c.74C>A c.2356C>A (p.Leu786Met) c.1852C>A (p.Leu618Met) c.1690C>A (p.Leu564Met) n.2365C>A c.1783C>A (p.Leu595Met) n.2318C>A n.2340C>A | |
| 16 | g.50712267C= | CA2221862943 | NOD2 | c.2275C= (p.Leu759=) c.74C= c.2356C= (p.Leu786=) c.1852C= (p.Leu618=) c.1690C= (p.Leu564=) n.2365C= c.1783C= (p.Leu595=) n.2318C= n.2340C= | |
| 16 | g.50712267C>G | CA8051756 | NOD2 | c.2275C>G (p.Leu759Val) c.74C>G c.2356C>G (p.Leu786Val) c.1852C>G (p.Leu618Val) c.1690C>G (p.Leu564Val) n.2365C>G c.1783C>G (p.Leu595Val) n.2318C>G n.2340C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712267C>T | CA495779155 | NOD2 | c.2275C>T (p.Leu759=) c.74C>T c.2356C>T (p.Leu786=) c.1852C>T (p.Leu618=) c.1690C>T (p.Leu564=) n.2365C>T c.1783C>T (p.Leu595=) n.2318C>T n.2340C>T | |
| 16 | g.50712268T>A | CA395871961 | NOD2 | c.2276T>A (p.Leu759Gln) c.75T>A c.2357T>A (p.Leu786Gln) c.1853T>A (p.Leu618Gln) c.1691T>A (p.Leu564Gln) n.2366T>A c.1784T>A (p.Leu595Gln) n.2319T>A n.2341T>A | |
| 16 | g.50712268T>C | CA395871962 | NOD2 | c.2276T>C (p.Leu759Pro) c.75T>C c.2357T>C (p.Leu786Pro) c.1853T>C (p.Leu618Pro) c.1691T>C (p.Leu564Pro) n.2366T>C c.1784T>C (p.Leu595Pro) n.2319T>C n.2341T>C | |
| 16 | g.50712268T>G | CA395871964 | NOD2 | c.2276T>G (p.Leu759Arg) c.75T>G c.2357T>G (p.Leu786Arg) c.1853T>G (p.Leu618Arg) c.1691T>G (p.Leu564Arg) n.2366T>G c.1784T>G (p.Leu595Arg) n.2319T>G n.2341T>G | ClinVar dbSNP |
| 16 | g.50712269G>A | CA495779157 | NOD2 | c.2277G>A (p.Leu759=) c.76G>A c.2358G>A (p.Leu786=) c.1854G>A (p.Leu618=) c.1692G>A (p.Leu564=) n.2367G>A c.1785G>A (p.Leu595=) n.2320G>A n.2342G>A | |
| 16 | g.50712269G>C | CA495779158 | NOD2 | c.2277G>C (p.Leu759=) c.76G>C c.2358G>C (p.Leu786=) c.1854G>C (p.Leu618=) c.1692G>C (p.Leu564=) n.2367G>C c.1785G>C (p.Leu595=) n.2320G>C n.2342G>C | |
| 16 | g.50712269G>T | CA495779159 | NOD2 | c.2277G>T (p.Leu759=) c.76G>T c.2358G>T (p.Leu786=) c.1854G>T (p.Leu618=) c.1692G>T (p.Leu564=) n.2367G>T c.1785G>T (p.Leu595=) n.2320G>T n.2342G>T | |
| 16 | g.50712270C>A | CA395871965 | NOD2 | c.2278C>A (p.Gln760Lys) c.77C>A c.2359C>A (p.Gln787Lys) c.1855C>A (p.Gln619Lys) c.1693C>A (p.Gln565Lys) n.2368C>A c.1786C>A (p.Gln596Lys) n.2321C>A n.2343C>A | |
| 16 | g.50712270C>G | CA395871966 | NOD2 | c.2278C>G (p.Gln760Glu) c.77C>G c.2359C>G (p.Gln787Glu) c.1855C>G (p.Gln619Glu) c.1693C>G (p.Gln565Glu) n.2368C>G c.1786C>G (p.Gln596Glu) n.2321C>G n.2343C>G | |
| 16 | g.50712270C>T | CA395871967 | NOD2 | c.2278C>T (p.Gln760Ter) c.77C>T c.2359C>T (p.Gln787Ter) c.1855C>T (p.Gln619Ter) c.1693C>T (p.Gln565Ter) n.2368C>T c.1786C>T (p.Gln596Ter) n.2321C>T n.2343C>T | gnomAD v4 |
| 16 | g.50712271A= | CA2221862947 | NOD2 | c.2279A= (p.Gln760=) c.78A= c.2360A= (p.Gln787=) c.1856A= (p.Gln619=) c.1694A= (p.Gln565=) n.2369A= c.1787A= (p.Gln596=) n.2322A= n.2344A= | |
| 16 | g.50712271A>C | CA395871969 | NOD2 | c.2279A>C (p.Gln760Pro) c.78A>C c.2360A>C (p.Gln787Pro) c.1856A>C (p.Gln619Pro) c.1694A>C (p.Gln565Pro) n.2369A>C c.1787A>C (p.Gln596Pro) n.2322A>C n.2344A>C | |
| 16 | g.50712271A>G | CA395871970 | NOD2 | c.2279A>G (p.Gln760Arg) c.78A>G c.2360A>G (p.Gln787Arg) c.1856A>G (p.Gln619Arg) c.1694A>G (p.Gln565Arg) n.2369A>G c.1787A>G (p.Gln596Arg) n.2322A>G n.2344A>G | dbSNP gnomAD v4 |
| 16 | g.50712271A>T | CA395871972 | NOD2 | c.2279A>T (p.Gln760Leu) c.78A>T c.2360A>T (p.Gln787Leu) c.1856A>T (p.Gln619Leu) c.1694A>T (p.Gln565Leu) n.2369A>T c.1787A>T (p.Gln596Leu) n.2322A>T n.2344A>T | |
| 16 | g.50712272G>A | CA495779162 | NOD2 | c.2280G>A (p.Gln760=) c.79G>A c.2361G>A (p.Gln787=) c.1857G>A (p.Gln619=) c.1695G>A (p.Gln565=) n.2370G>A c.1788G>A (p.Gln596=) n.2323G>A n.2345G>A | |
| 16 | g.50712272G>C | CA395871975 | NOD2 | c.2280G>C (p.Gln760His) c.79G>C c.2361G>C (p.Gln787His) c.1857G>C (p.Gln619His) c.1695G>C (p.Gln565His) n.2370G>C c.1788G>C (p.Gln596His) n.2323G>C n.2345G>C | |
| 16 | g.50712272G>T | CA395871974 | NOD2 | c.2280G>T (p.Gln760His) c.79G>T c.2361G>T (p.Gln787His) c.1857G>T (p.Gln619His) c.1695G>T (p.Gln565His) n.2370G>T c.1788G>T (p.Gln596His) n.2323G>T n.2345G>T | |
| 16 | g.50712273C>A | CA395871976 | NOD2 | c.2281C>A (p.His761Asn) c.80C>A c.2362C>A (p.His788Asn) c.1858C>A (p.His620Asn) c.1696C>A (p.His566Asn) n.2371C>A c.1789C>A (p.His597Asn) n.2324C>A n.2346C>A | |
| 16 | g.50712273C>G | CA395871977 | NOD2 | c.2281C>G (p.His761Asp) c.80C>G c.2362C>G (p.His788Asp) c.1858C>G (p.His620Asp) c.1696C>G (p.His566Asp) n.2371C>G c.1789C>G (p.His597Asp) n.2324C>G n.2346C>G | |
| 16 | g.50712273C>T | CA395871978 | NOD2 | c.2281C>T (p.His761Tyr) c.80C>T c.2362C>T (p.His788Tyr) c.1858C>T (p.His620Tyr) c.1696C>T (p.His566Tyr) n.2371C>T c.1789C>T (p.His597Tyr) n.2324C>T n.2346C>T | |
| 16 | g.50712274A= | CA2221862950 | NOD2 | c.2282A= (p.His761=) c.81A= c.2363A= (p.His788=) c.1859A= (p.His620=) c.1697A= (p.His566=) n.2372A= c.1790A= (p.His597=) n.2325A= n.2347A= | |
| 16 | g.50712274A>C | CA395871980 | NOD2 | c.2282A>C (p.His761Pro) c.81A>C c.2363A>C (p.His788Pro) c.1859A>C (p.His620Pro) c.1697A>C (p.His566Pro) n.2372A>C c.1790A>C (p.His597Pro) n.2325A>C n.2347A>C | |
| 16 | g.50712274A>G | CA281264451 | NOD2 | c.2282A>G (p.His761Arg) c.81A>G c.2363A>G (p.His788Arg) c.1859A>G (p.His620Arg) c.1697A>G (p.His566Arg) n.2372A>G c.1790A>G (p.His597Arg) n.2325A>G n.2347A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712274A>T | CA395871982 | NOD2 | c.2282A>T (p.His761Leu) c.81A>T c.2363A>T (p.His788Leu) c.1859A>T (p.His620Leu) c.1697A>T (p.His566Leu) n.2372A>T c.1790A>T (p.His597Leu) n.2325A>T n.2347A>T | |
| 16 | g.50712275C>A | CA8051757 | NOD2 | c.2283C>A (p.His761Gln) c.82C>A c.2364C>A (p.His788Gln) c.1860C>A (p.His620Gln) c.1698C>A (p.His566Gln) n.2373C>A c.1791C>A (p.His597Gln) n.2326C>A n.2348C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712275C= | CA2221862956 | NOD2 | c.2283C= (p.His761=) c.82C= c.2364C= (p.His788=) c.1860C= (p.His620=) c.1698C= (p.His566=) n.2373C= c.1791C= (p.His597=) n.2326C= n.2348C= | |
| 16 | g.50712275C>G | CA395871984 | NOD2 | c.2283C>G (p.His761Gln) c.82C>G c.2364C>G (p.His788Gln) c.1860C>G (p.His620Gln) c.1698C>G (p.His566Gln) n.2373C>G c.1791C>G (p.His597Gln) n.2326C>G n.2348C>G | |
| 16 | g.50712275C>T | CA8051758 | NOD2 | c.2283C>T (p.His761=) c.82C>T c.2364C>T (p.His788=) c.1860C>T (p.His620=) c.1698C>T (p.His566=) n.2373C>T c.1791C>T (p.His597=) n.2326C>T n.2348C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712276C>A | CA395871985 | NOD2 | c.2284C>A (p.Leu762Ile) c.83C>A c.2365C>A (p.Leu789Ile) c.1861C>A (p.Leu621Ile) c.1699C>A (p.Leu567Ile) n.2374C>A c.1792C>A (p.Leu598Ile) n.2327C>A n.2349C>A | |
| 16 | g.50712276C= | CA2221862959 | NOD2 | c.2284C= (p.Leu762=) c.83C= c.2365C= (p.Leu789=) c.1861C= (p.Leu621=) c.1699C= (p.Leu567=) n.2374C= c.1792C= (p.Leu598=) n.2327C= n.2349C= | |
| 16 | g.50712276C>G | CA395871986 | NOD2 | c.2284C>G (p.Leu762Val) c.83C>G c.2365C>G (p.Leu789Val) c.1861C>G (p.Leu621Val) c.1699C>G (p.Leu567Val) n.2374C>G c.1792C>G (p.Leu598Val) n.2327C>G n.2349C>G | |
| 16 | g.50712276C>T | CA8051759 | NOD2 | c.2284C>T (p.Leu762Phe) c.83C>T c.2365C>T (p.Leu789Phe) c.1861C>T (p.Leu621Phe) c.1699C>T (p.Leu567Phe) n.2374C>T c.1792C>T (p.Leu598Phe) n.2327C>T n.2349C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712277T>A | CA395871992 | NOD2 | c.2285T>A (p.Leu762His) c.84T>A c.2366T>A (p.Leu789His) c.1862T>A (p.Leu621His) c.1700T>A (p.Leu567His) n.2375T>A c.1793T>A (p.Leu598His) n.2328T>A n.2350T>A | |
| 16 | g.50712277T>C | CA395871996 | NOD2 | c.2285T>C (p.Leu762Pro) c.84T>C c.2366T>C (p.Leu789Pro) c.1862T>C (p.Leu621Pro) c.1700T>C (p.Leu567Pro) n.2375T>C c.1793T>C (p.Leu598Pro) n.2328T>C n.2350T>C | |
| 16 | g.50712277T>G | CA395871989 | NOD2 | c.2285T>G (p.Leu762Arg) c.84T>G c.2366T>G (p.Leu789Arg) c.1862T>G (p.Leu621Arg) c.1700T>G (p.Leu567Arg) n.2375T>G c.1793T>G (p.Leu598Arg) n.2328T>G n.2350T>G | |
| 16 | g.50712278C>A | CA495779166 | NOD2 | c.2286C>A (p.Leu762=) c.85C>A c.2367C>A (p.Leu789=) c.1863C>A (p.Leu621=) c.1701C>A (p.Leu567=) n.2376C>A c.1794C>A (p.Leu598=) n.2329C>A n.2351C>A | |
| 16 | g.50712278C= | CA2221862962 | NOD2 | c.2286C= (p.Leu762=) c.85C= c.2367C= (p.Leu789=) c.1863C= (p.Leu621=) c.1701C= (p.Leu567=) n.2376C= c.1794C= (p.Leu598=) n.2329C= n.2351C= | |
| 16 | g.50712278C>G | CA8051760 | NOD2 | c.2286C>G (p.Leu762=) c.85C>G c.2367C>G (p.Leu789=) c.1863C>G (p.Leu621=) c.1701C>G (p.Leu567=) n.2376C>G c.1794C>G (p.Leu598=) n.2329C>G n.2351C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712278C>T | CA495779167 | NOD2 | c.2286C>T (p.Leu762=) c.85C>T c.2367C>T (p.Leu789=) c.1863C>T (p.Leu621=) c.1701C>T (p.Leu567=) n.2376C>T c.1794C>T (p.Leu598=) n.2329C>T n.2351C>T | gnomAD v4 |
| 16 | g.50712279C>A | CA495779168 | NOD2 | c.2287C>A (p.Arg763=) c.86C>A c.2368C>A (p.Arg790=) c.1864C>A (p.Arg622=) c.1702C>A (p.Arg568=) n.2377C>A c.1795C>A (p.Arg599=) n.2330C>A n.2352C>A | |
| 16 | g.50712279C= | CA2221862965 | NOD2 | c.2287C= (p.Arg763=) c.86C= c.2368C= (p.Arg790=) c.1864C= (p.Arg622=) c.1702C= (p.Arg568=) n.2377C= c.1795C= (p.Arg599=) n.2330C= n.2352C= | |
| 16 | g.50712279C>G | CA395871998 | NOD2 | c.2287C>G (p.Arg763Gly) c.86C>G c.2368C>G (p.Arg790Gly) c.1864C>G (p.Arg622Gly) c.1702C>G (p.Arg568Gly) n.2377C>G c.1795C>G (p.Arg599Gly) n.2330C>G n.2352C>G | |
| 16 | g.50712279C>T | CA8051761 | NOD2 | c.2287C>T (p.Arg763Trp) c.86C>T c.2368C>T (p.Arg790Trp) c.1864C>T (p.Arg622Trp) c.1702C>T (p.Arg568Trp) n.2377C>T c.1795C>T (p.Arg599Trp) n.2330C>T n.2352C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.50712280G>A | CA8051762 | NOD2 | c.2288G>A (p.Arg763Gln) c.87G>A c.2369G>A (p.Arg790Gln) c.1865G>A (p.Arg622Gln) c.1703G>A (p.Arg568Gln) n.2378G>A c.1796G>A (p.Arg599Gln) n.2331G>A n.2353G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712280G>C | CA395872000 | NOD2 | c.2288G>C (p.Arg763Pro) c.87G>C c.2369G>C (p.Arg790Pro) c.1865G>C (p.Arg622Pro) c.1703G>C (p.Arg568Pro) n.2378G>C c.1796G>C (p.Arg599Pro) n.2331G>C n.2353G>C | |
| 16 | g.50712280G= | CA2221862969 | NOD2 | c.2288G= (p.Arg763=) c.87G= c.2369G= (p.Arg790=) c.1865G= (p.Arg622=) c.1703G= (p.Arg568=) n.2378G= c.1796G= (p.Arg599=) n.2331G= n.2353G= | |
| 16 | g.50712280G>T | CA395872002 | NOD2 | c.2288G>T (p.Arg763Leu) c.87G>T c.2369G>T (p.Arg790Leu) c.1865G>T (p.Arg622Leu) c.1703G>T (p.Arg568Leu) n.2378G>T c.1796G>T (p.Arg599Leu) n.2331G>T n.2353G>T | COSMIC |
| 16 | g.50712281G>A | CA495779171 | NOD2 | c.2289G>A (p.Arg763=) c.88G>A c.2370G>A (p.Arg790=) c.1866G>A (p.Arg622=) c.1704G>A (p.Arg568=) n.2379G>A c.1797G>A (p.Arg599=) n.2332G>A n.2354G>A | COSMIC |
| 16 | g.50712281G>C | CA495779170 | NOD2 | c.2289G>C (p.Arg763=) c.88G>C c.2370G>C (p.Arg790=) c.1866G>C (p.Arg622=) c.1704G>C (p.Arg568=) n.2379G>C c.1797G>C (p.Arg599=) n.2332G>C n.2354G>C | |
| 16 | g.50712281G>T | CA495779169 | NOD2 | c.2289G>T (p.Arg763=) c.88G>T c.2370G>T (p.Arg790=) c.1866G>T (p.Arg622=) c.1704G>T (p.Arg568=) n.2379G>T c.1797G>T (p.Arg599=) n.2332G>T n.2354G>T | |
| 16 | g.50712282C>A | CA495779172 | NOD2 | c.2290C>A (p.Arg764=) c.89C>A c.2371C>A (p.Arg791=) c.1867C>A (p.Arg623=) c.1705C>A (p.Arg569=) n.2380C>A c.1798C>A (p.Arg600=) n.2333C>A n.2355C>A | |
| 16 | g.50712282C= | CA2221862973 | NOD2 | c.2290C= (p.Arg764=) c.89C= c.2371C= (p.Arg791=) c.1867C= (p.Arg623=) c.1705C= (p.Arg569=) n.2380C= c.1798C= (p.Arg600=) n.2333C= n.2355C= | |
| 16 | g.50712282C>G | CA395872004 | NOD2 | c.2290C>G (p.Arg764Gly) c.89C>G c.2371C>G (p.Arg791Gly) c.1867C>G (p.Arg623Gly) c.1705C>G (p.Arg569Gly) n.2380C>G c.1798C>G (p.Arg600Gly) n.2333C>G n.2355C>G | ClinVar |
| 16 | g.50712282C>T | CA150259 | NOD2 | c.2290C>T (p.Arg764Trp) c.89C>T c.2371C>T (p.Arg791Trp) c.1867C>T (p.Arg623Trp) c.1705C>T (p.Arg569Trp) n.2380C>T c.1798C>T (p.Arg600Trp) n.2333C>T n.2355C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712283G>A | CA150262 | NOD2 | c.2291G>A (p.Arg764Gln) c.90G>A c.2372G>A (p.Arg791Gln) c.1868G>A (p.Arg623Gln) c.1706G>A (p.Arg569Gln) n.2381G>A c.1799G>A (p.Arg600Gln) n.2334G>A n.2356G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712283G>C | CA395872008 | NOD2 | c.2291G>C (p.Arg764Pro) c.90G>C c.2372G>C (p.Arg791Pro) c.1868G>C (p.Arg623Pro) c.1706G>C (p.Arg569Pro) n.2381G>C c.1799G>C (p.Arg600Pro) n.2334G>C n.2356G>C | |
| 16 | g.50712283G= | CA2221862977 | NOD2 | c.2291G= (p.Arg764=) c.90G= c.2372G= (p.Arg791=) c.1868G= (p.Arg623=) c.1706G= (p.Arg569=) n.2381G= c.1799G= (p.Arg600=) n.2334G= n.2356G= | |
| 16 | g.50712283G>T | CA395872011 | NOD2 | c.2291G>T (p.Arg764Leu) c.90G>T c.2372G>T (p.Arg791Leu) c.1868G>T (p.Arg623Leu) c.1706G>T (p.Arg569Leu) n.2381G>T c.1799G>T (p.Arg600Leu) n.2334G>T n.2356G>T | |
| 16 | g.50712284del | CA2633164767 | NOD2 | c.2292del (p.Val766TrpfsTer?) c.91del c.2373del (p.Val793TrpfsTer?) c.1869del (p.Val625TrpfsTer?) c.1707del (p.Val571TrpfsTer?) n.2382del c.1800del (p.Val602TrpfsTer?) n.2335del n.2357del | gnomAD v4 |
| 16 | g.50712284G>A | CA495779173 | NOD2 | c.2292G>A (p.Arg764=) c.91G>A c.2373G>A (p.Arg791=) c.1869G>A (p.Arg623=) c.1707G>A (p.Arg569=) n.2382G>A c.1800G>A (p.Arg600=) n.2335G>A n.2357G>A | |
| 16 | g.50712284G>C | CA495779175 | NOD2 | c.2292G>C (p.Arg764=) c.91G>C c.2373G>C (p.Arg791=) c.1869G>C (p.Arg623=) c.1707G>C (p.Arg569=) n.2382G>C c.1800G>C (p.Arg600=) n.2335G>C n.2357G>C | |
| 16 | g.50712284G= | CA2221862981 | NOD2 | c.2292G= (p.Arg764=) c.91G= c.2373G= (p.Arg791=) c.1869G= (p.Arg623=) c.1707G= (p.Arg569=) n.2382G= c.1800G= (p.Arg600=) n.2335G= n.2357G= | |
| 16 | g.50712284G>T | CA495779176 | NOD2 | c.2292G>T (p.Arg764=) c.91G>T c.2373G>T (p.Arg791=) c.1869G>T (p.Arg623=) c.1707G>T (p.Arg569=) n.2382G>T c.1800G>T (p.Arg600=) n.2335G>T n.2357G>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712285C>A | CA395872013 | NOD2 | c.2293C>A (p.Pro765Thr) c.92C>A c.2374C>A (p.Pro792Thr) c.1870C>A (p.Pro624Thr) c.1708C>A (p.Pro570Thr) n.2383C>A c.1801C>A (p.Pro601Thr) n.2336C>A n.2358C>A | |
| 16 | g.50712285C>G | CA395872014 | NOD2 | c.2293C>G (p.Pro765Ala) c.92C>G c.2374C>G (p.Pro792Ala) c.1870C>G (p.Pro624Ala) c.1708C>G (p.Pro570Ala) n.2383C>G c.1801C>G (p.Pro601Ala) n.2336C>G n.2358C>G | |
| 16 | g.50712285C>T | CA395872015 | NOD2 | c.2293C>T (p.Pro765Ser) c.92C>T c.2374C>T (p.Pro792Ser) c.1870C>T (p.Pro624Ser) c.1708C>T (p.Pro570Ser) n.2383C>T c.1801C>T (p.Pro601Ser) n.2336C>T n.2358C>T | |
| 16 | g.50712286C>A | CA395872018 | NOD2 | c.2294C>A (p.Pro765His) c.93C>A c.2375C>A (p.Pro792His) c.1871C>A (p.Pro624His) c.1709C>A (p.Pro570His) n.2384C>A c.1802C>A (p.Pro601His) n.2337C>A n.2359C>A | dbSNP |
| 16 | g.50712286C= | CA2221862987 | NOD2 | c.2294C= (p.Pro765=) c.93C= c.2375C= (p.Pro792=) c.1871C= (p.Pro624=) c.1709C= (p.Pro570=) n.2384C= c.1802C= (p.Pro601=) n.2337C= n.2359C= | |
| 16 | g.50712286C>G | CA395872016 | NOD2 | c.2294C>G (p.Pro765Arg) c.93C>G c.2375C>G (p.Pro792Arg) c.1871C>G (p.Pro624Arg) c.1709C>G (p.Pro570Arg) n.2384C>G c.1802C>G (p.Pro601Arg) n.2337C>G n.2359C>G | ClinVar dbSNP |
| 16 | g.50712286C>T | CA395872017 | NOD2 | c.2294C>T (p.Pro765Leu) c.93C>T c.2375C>T (p.Pro792Leu) c.1871C>T (p.Pro624Leu) c.1709C>T (p.Pro570Leu) n.2384C>T c.1802C>T (p.Pro601Leu) n.2337C>T n.2359C>T | |
| 16 | g.50712287C>A | CA495779178 | NOD2 | c.2295C>A (p.Pro765=) c.94C>A c.2376C>A (p.Pro792=) c.1872C>A (p.Pro624=) c.1710C>A (p.Pro570=) n.2385C>A c.1803C>A (p.Pro601=) n.2338C>A n.2360C>A | |
| 16 | g.50712287C= | CA2221862993 | NOD2 | c.2295C= (p.Pro765=) c.94C= c.2376C= (p.Pro792=) c.1872C= (p.Pro624=) c.1710C= (p.Pro570=) n.2385C= c.1803C= (p.Pro601=) n.2338C= n.2360C= | |
| 16 | g.50712287C>G | CA495779177 | NOD2 | c.2295C>G (p.Pro765=) c.94C>G c.2376C>G (p.Pro792=) c.1872C>G (p.Pro624=) c.1710C>G (p.Pro570=) n.2385C>G c.1803C>G (p.Pro601=) n.2338C>G n.2360C>G | |
| 16 | g.50712287C>T | CA8051763 | NOD2 | c.2295C>T (p.Pro765=) c.94C>T c.2376C>T (p.Pro792=) c.1872C>T (p.Pro624=) c.1710C>T (p.Pro570=) n.2385C>T c.1803C>T (p.Pro601=) n.2338C>T n.2360C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712288G>A | CA150265 | NOD2 | c.2296G>A (p.Val766Met) c.95G>A c.2377G>A (p.Val793Met) c.1873G>A (p.Val625Met) c.1711G>A (p.Val571Met) n.2386G>A c.1804G>A (p.Val602Met) n.2339G>A n.2361G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712288G>C | CA395872022 | NOD2 | c.2296G>C (p.Val766Leu) c.95G>C c.2377G>C (p.Val793Leu) c.1873G>C (p.Val625Leu) c.1711G>C (p.Val571Leu) n.2386G>C c.1804G>C (p.Val602Leu) n.2339G>C n.2361G>C | gnomAD v4 |
| 16 | g.50712288G= | CA2221862998 | NOD2 | c.2296G= (p.Val766=) c.95G= c.2377G= (p.Val793=) c.1873G= (p.Val625=) c.1711G= (p.Val571=) n.2386G= c.1804G= (p.Val602=) n.2339G= n.2361G= | |
| 16 | g.50712288G>T | CA395872024 | NOD2 | c.2296G>T (p.Val766Leu) c.95G>T c.2377G>T (p.Val793Leu) c.1873G>T (p.Val625Leu) c.1711G>T (p.Val571Leu) n.2386G>T c.1804G>T (p.Val602Leu) n.2339G>T n.2361G>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712289T>A | CA395872026 | NOD2 | c.2297T>A (p.Val766Glu) c.96T>A c.2378T>A (p.Val793Glu) c.1874T>A (p.Val625Glu) c.1712T>A (p.Val571Glu) n.2387T>A c.1805T>A (p.Val602Glu) n.2340T>A n.2362T>A | |
| 16 | g.50712289T>C | CA395872028 | NOD2 | c.2297T>C (p.Val766Ala) c.96T>C c.2378T>C (p.Val793Ala) c.1874T>C (p.Val625Ala) c.1712T>C (p.Val571Ala) n.2387T>C c.1805T>C (p.Val602Ala) n.2340T>C n.2362T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712289T>G | CA395872030 | NOD2 | c.2297T>G (p.Val766Gly) c.96T>G c.2378T>G (p.Val793Gly) c.1874T>G (p.Val625Gly) c.1712T>G (p.Val571Gly) n.2387T>G c.1805T>G (p.Val602Gly) n.2340T>G n.2362T>G | ClinVar dbSNP |
| 16 | g.50712289T= | CA2221863003 | NOD2 | c.2297T= (p.Val766=) c.96T= c.2378T= (p.Val793=) c.1874T= (p.Val625=) c.1712T= (p.Val571=) n.2387T= c.1805T= (p.Val602=) n.2340T= n.2362T= | |
| 16 | g.50712290G>A | CA8051764 | NOD2 | c.2298G>A (p.Val766=) c.97G>A c.2379G>A (p.Val793=) c.1875G>A (p.Val625=) c.1713G>A (p.Val571=) n.2388G>A c.1806G>A (p.Val602=) n.2341G>A n.2363G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712290G>C | CA495779181 | NOD2 | c.2298G>C (p.Val766=) c.97G>C c.2379G>C (p.Val793=) c.1875G>C (p.Val625=) c.1713G>C (p.Val571=) n.2388G>C c.1806G>C (p.Val602=) n.2341G>C n.2363G>C | |
| 16 | g.50712290G= | CA2221863006 | NOD2 | c.2298G= (p.Val766=) c.97G= c.2379G= (p.Val793=) c.1875G= (p.Val625=) c.1713G= (p.Val571=) n.2388G= c.1806G= (p.Val602=) n.2341G= n.2363G= | |
| 16 | g.50712290G>T | CA495779182 | NOD2 | c.2298G>T (p.Val766=) c.97G>T c.2379G>T (p.Val793=) c.1875G>T (p.Val625=) c.1713G>T (p.Val571=) n.2388G>T c.1806G>T (p.Val602=) n.2341G>T n.2363G>T | |
| 16 | g.50712291G>A | CA281264511 | NOD2 | c.2299G>A (p.Ala767Thr) c.98G>A c.2380G>A (p.Ala794Thr) c.1876G>A (p.Ala626Thr) c.1714G>A (p.Ala572Thr) n.2389G>A c.1807G>A (p.Ala603Thr) n.2342G>A n.2364G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712291G>C | CA395872033 | NOD2 | c.2299G>C (p.Ala767Pro) c.98G>C c.2380G>C (p.Ala794Pro) c.1876G>C (p.Ala626Pro) c.1714G>C (p.Ala572Pro) n.2389G>C c.1807G>C (p.Ala603Pro) n.2342G>C n.2364G>C | |
| 16 | g.50712291G= | CA2221863009 | NOD2 | c.2299G= (p.Ala767=) c.98G= c.2380G= (p.Ala794=) c.1876G= (p.Ala626=) c.1714G= (p.Ala572=) n.2389G= c.1807G= (p.Ala603=) n.2342G= n.2364G= | |
| 16 | g.50712291G>T | CA395872035 | NOD2 | c.2299G>T (p.Ala767Ser) c.98G>T c.2380G>T (p.Ala794Ser) c.1876G>T (p.Ala626Ser) c.1714G>T (p.Ala572Ser) n.2389G>T c.1807G>T (p.Ala603Ser) n.2342G>T n.2364G>T | |
| 16 | g.50712292C>A | CA395872043 | NOD2 | c.2300C>A (p.Ala767Asp) c.99C>A c.2381C>A (p.Ala794Asp) c.1877C>A (p.Ala626Asp) c.1715C>A (p.Ala572Asp) n.2390C>A c.1808C>A (p.Ala603Asp) n.2343C>A n.2365C>A | |
| 16 | g.50712292C>G | CA395872041 | NOD2 | c.2300C>G (p.Ala767Gly) c.99C>G c.2381C>G (p.Ala794Gly) c.1877C>G (p.Ala626Gly) c.1715C>G (p.Ala572Gly) n.2390C>G c.1808C>G (p.Ala603Gly) n.2343C>G n.2365C>G | |
| 16 | g.50712292C>T | CA395872038 | NOD2 | c.2300C>T (p.Ala767Val) c.99C>T c.2381C>T (p.Ala794Val) c.1877C>T (p.Ala626Val) c.1715C>T (p.Ala572Val) n.2390C>T c.1808C>T (p.Ala603Val) n.2343C>T n.2365C>T | gnomAD v4 |
| 16 | g.50712293C>A | CA495779186 | NOD2 | c.2301C>A (p.Ala767=) c.100C>A c.2382C>A (p.Ala794=) c.1878C>A (p.Ala626=) c.1716C>A (p.Ala572=) n.2391C>A c.1809C>A (p.Ala603=) n.2344C>A n.2366C>A | gnomAD v4 |
| 16 | g.50712293C>G | CA495779184 | NOD2 | c.2301C>G (p.Ala767=) c.100C>G c.2382C>G (p.Ala794=) c.1878C>G (p.Ala626=) c.1716C>G (p.Ala572=) n.2391C>G c.1809C>G (p.Ala603=) n.2344C>G n.2366C>G | |
| 16 | g.50712293C>T | CA495779185 | NOD2 | c.2301C>T (p.Ala767=) c.100C>T c.2382C>T (p.Ala794=) c.1878C>T (p.Ala626=) c.1716C>T (p.Ala572=) n.2391C>T c.1809C>T (p.Ala603=) n.2344C>T n.2366C>T | gnomAD v4 |
| 16 | g.50712294C>A | CA395872045 | NOD2 | c.2302C>A (p.Leu768Met) c.101C>A c.2383C>A (p.Leu795Met) c.1879C>A (p.Leu627Met) c.1717C>A (p.Leu573Met) n.2392C>A c.1810C>A (p.Leu604Met) n.2345C>A n.2367C>A | |
| 16 | g.50712294C>G | CA395872046 | NOD2 | c.2302C>G (p.Leu768Val) c.101C>G c.2383C>G (p.Leu795Val) c.1879C>G (p.Leu627Val) c.1717C>G (p.Leu573Val) n.2392C>G c.1810C>G (p.Leu604Val) n.2345C>G n.2367C>G | |
| 16 | g.50712294C>T | CA495779187 | NOD2 | c.2302C>T (p.Leu768=) c.101C>T c.2383C>T (p.Leu795=) c.1879C>T (p.Leu627=) c.1717C>T (p.Leu573=) n.2392C>T c.1810C>T (p.Leu604=) n.2345C>T n.2367C>T | gnomAD v4 COSMIC |
| 16 | g.50712295T>A | CA395872047 | NOD2 | c.2303T>A (p.Leu768Gln) c.102T>A c.2384T>A (p.Leu795Gln) c.1880T>A (p.Leu627Gln) c.1718T>A (p.Leu573Gln) n.2393T>A c.1811T>A (p.Leu604Gln) n.2346T>A n.2368T>A | |
| 16 | g.50712295T>C | CA395872048 | NOD2 | c.2303T>C (p.Leu768Pro) c.102T>C c.2384T>C (p.Leu795Pro) c.1880T>C (p.Leu627Pro) c.1718T>C (p.Leu573Pro) n.2393T>C c.1811T>C (p.Leu604Pro) n.2346T>C n.2368T>C | |
| 16 | g.50712295T>G | CA395872050 | NOD2 | c.2303T>G (p.Leu768Arg) c.102T>G c.2384T>G (p.Leu795Arg) c.1880T>G (p.Leu627Arg) c.1718T>G (p.Leu573Arg) n.2393T>G c.1811T>G (p.Leu604Arg) n.2346T>G n.2368T>G | |
| 16 | g.50712296G>A | CA495779188 | NOD2 | c.2304G>A (p.Leu768=) c.103G>A c.2385G>A (p.Leu795=) c.1881G>A (p.Leu627=) c.1719G>A (p.Leu573=) n.2394G>A c.1812G>A (p.Leu604=) n.2347G>A n.2369G>A | gnomAD v4 |
| 16 | g.50712296G>C | CA495779189 | NOD2 | c.2304G>C (p.Leu768=) c.103G>C c.2385G>C (p.Leu795=) c.1881G>C (p.Leu627=) c.1719G>C (p.Leu573=) n.2394G>C c.1812G>C (p.Leu604=) n.2347G>C n.2369G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712296G= | CA2221863011 | NOD2 | c.2304G= (p.Leu768=) c.103G= c.2385G= (p.Leu795=) c.1881G= (p.Leu627=) c.1719G= (p.Leu573=) n.2394G= c.1812G= (p.Leu604=) n.2347G= n.2369G= | |
| 16 | g.50712296G>T | CA495779190 | NOD2 | c.2304G>T (p.Leu768=) c.103G>T c.2385G>T (p.Leu795=) c.1881G>T (p.Leu627=) c.1719G>T (p.Leu573=) n.2394G>T c.1812G>T (p.Leu604=) n.2347G>T n.2369G>T | |
| 16 | g.50712297C>A | CA395872052 | NOD2 | c.2305C>A (p.Gln769Lys) c.104C>A c.2386C>A (p.Gln796Lys) c.1882C>A (p.Gln628Lys) c.1720C>A (p.Gln574Lys) n.2395C>A c.1813C>A (p.Gln605Lys) n.2348C>A n.2370C>A | |
| 16 | g.50712297C= | CA2221863013 | NOD2 | c.2305C= (p.Gln769=) c.104C= c.2386C= (p.Gln796=) c.1882C= (p.Gln628=) c.1720C= (p.Gln574=) n.2395C= c.1813C= (p.Gln605=) n.2348C= n.2370C= | |
| 16 | g.50712297C>G | CA395872055 | NOD2 | c.2305C>G (p.Gln769Glu) c.104C>G c.2386C>G (p.Gln796Glu) c.1882C>G (p.Gln628Glu) c.1720C>G (p.Gln574Glu) n.2395C>G c.1813C>G (p.Gln605Glu) n.2348C>G n.2370C>G | |
| 16 | g.50712297C>T | CA8051765 | NOD2 | c.2305C>T (p.Gln769Ter) c.104C>T c.2386C>T (p.Gln796Ter) c.1882C>T (p.Gln628Ter) c.1720C>T (p.Gln574Ter) n.2395C>T c.1813C>T (p.Gln605Ter) n.2348C>T n.2370C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712298A= | CA2221863016 | NOD2 | c.2306A= (p.Gln769=) c.105A= c.2387A= (p.Gln796=) c.1883A= (p.Gln628=) c.1721A= (p.Gln574=) n.2396A= c.1814A= (p.Gln605=) n.2349A= n.2371A= | |
| 16 | g.50712298A>C | CA395872059 | NOD2 | c.2306A>C (p.Gln769Pro) c.105A>C c.2387A>C (p.Gln796Pro) c.1883A>C (p.Gln628Pro) c.1721A>C (p.Gln574Pro) n.2396A>C c.1814A>C (p.Gln605Pro) n.2349A>C n.2371A>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712298A>G | CA395872061 | NOD2 | c.2306A>G (p.Gln769Arg) c.105A>G c.2387A>G (p.Gln796Arg) c.1883A>G (p.Gln628Arg) c.1721A>G (p.Gln574Arg) n.2396A>G c.1814A>G (p.Gln605Arg) n.2349A>G n.2371A>G | |
| 16 | g.50712298A>T | CA395872064 | NOD2 | c.2306A>T (p.Gln769Leu) c.105A>T c.2387A>T (p.Gln796Leu) c.1883A>T (p.Gln628Leu) c.1721A>T (p.Gln574Leu) n.2396A>T c.1814A>T (p.Gln605Leu) n.2349A>T n.2371A>T | |
| 16 | g.50712299G>A | CA495779194 | NOD2 | c.2307G>A (p.Gln769=) c.106G>A c.2388G>A (p.Gln796=) c.1884G>A (p.Gln628=) c.1722G>A (p.Gln574=) n.2397G>A c.1815G>A (p.Gln605=) n.2350G>A n.2372G>A | gnomAD v4 |
| 16 | g.50712299G>C | CA395872066 | NOD2 | c.2307G>C (p.Gln769His) c.106G>C c.2388G>C (p.Gln796His) c.1884G>C (p.Gln628His) c.1722G>C (p.Gln574His) n.2397G>C c.1815G>C (p.Gln605His) n.2350G>C n.2372G>C | |
| 16 | g.50712299G>T | CA395872068 | NOD2 | c.2307G>T (p.Gln769His) c.106G>T c.2388G>T (p.Gln796His) c.1884G>T (p.Gln628His) c.1722G>T (p.Gln574His) n.2397G>T c.1815G>T (p.Gln605His) n.2350G>T n.2372G>T | |
| 16 | g.50712300C>A | CA395872073 | NOD2 | c.2308C>A (p.Leu770Met) c.107C>A c.2389C>A (p.Leu797Met) c.1885C>A (p.Leu629Met) c.1723C>A (p.Leu575Met) n.2398C>A c.1816C>A (p.Leu606Met) n.2351C>A n.2373C>A | |
| 16 | g.50712300C>G | CA395872071 | NOD2 | c.2308C>G (p.Leu770Val) c.107C>G c.2389C>G (p.Leu797Val) c.1885C>G (p.Leu629Val) c.1723C>G (p.Leu575Val) n.2398C>G c.1816C>G (p.Leu606Val) n.2351C>G n.2373C>G | |
| 16 | g.50712300C>T | CA495779195 | NOD2 | c.2308C>T (p.Leu770=) c.107C>T c.2389C>T (p.Leu797=) c.1885C>T (p.Leu629=) c.1723C>T (p.Leu575=) n.2398C>T c.1816C>T (p.Leu606=) n.2351C>T n.2373C>T | |
| 16 | g.50712301T>A | CA395872076 | NOD2 | c.2309T>A (p.Leu770Gln) c.108T>A c.2390T>A (p.Leu797Gln) c.1886T>A (p.Leu629Gln) c.1724T>A (p.Leu575Gln) n.2399T>A c.1817T>A (p.Leu606Gln) n.2352T>A n.2374T>A | |
| 16 | g.50712301T>C | CA395872078 | NOD2 | c.2309T>C (p.Leu770Pro) c.108T>C c.2390T>C (p.Leu797Pro) c.1886T>C (p.Leu629Pro) c.1724T>C (p.Leu575Pro) n.2399T>C c.1817T>C (p.Leu606Pro) n.2352T>C n.2374T>C | |
| 16 | g.50712301T>G | CA395872080 | NOD2 | c.2309T>G (p.Leu770Arg) c.108T>G c.2390T>G (p.Leu797Arg) c.1886T>G (p.Leu629Arg) c.1724T>G (p.Leu575Arg) n.2399T>G c.1817T>G (p.Leu606Arg) n.2352T>G n.2374T>G | |
| 16 | g.50712302G>A | CA495779198 | NOD2 | c.2310G>A (p.Leu770=) c.109G>A c.2391G>A (p.Leu797=) c.1887G>A (p.Leu629=) c.1725G>A (p.Leu575=) n.2400G>A c.1818G>A (p.Leu606=) n.2353G>A n.2375G>A | dbSNP |
| 16 | g.50712302G>C | CA495779199 | NOD2 | c.2310G>C (p.Leu770=) c.109G>C c.2391G>C (p.Leu797=) c.1887G>C (p.Leu629=) c.1725G>C (p.Leu575=) n.2400G>C c.1818G>C (p.Leu606=) n.2353G>C n.2375G>C | |
| 16 | g.50712302G= | CA2221863018 | NOD2 | c.2310G= (p.Leu770=) c.109G= c.2391G= (p.Leu797=) c.1887G= (p.Leu629=) c.1725G= (p.Leu575=) n.2400G= c.1818G= (p.Leu606=) n.2353G= n.2375G= | |
| 16 | g.50712302G>T | CA495779200 | NOD2 | c.2310G>T (p.Leu770=) c.109G>T c.2391G>T (p.Leu797=) c.1887G>T (p.Leu629=) c.1725G>T (p.Leu575=) n.2400G>T c.1818G>T (p.Leu606=) n.2353G>T n.2375G>T | gnomAD v4 |
| 16 | g.50712303G>A | CA395872083 | NOD2 | c.2311G>A (p.Asp771Asn) c.110G>A c.2392G>A (p.Asp798Asn) c.1888G>A (p.Asp630Asn) c.1726G>A (p.Asp576Asn) n.2401G>A c.1819G>A (p.Asp607Asn) n.2354G>A n.2376G>A | |
| 16 | g.50712303G>C | CA395872085 | NOD2 | c.2311G>C (p.Asp771His) c.110G>C c.2392G>C (p.Asp798His) c.1888G>C (p.Asp630His) c.1726G>C (p.Asp576His) n.2401G>C c.1819G>C (p.Asp607His) n.2354G>C n.2376G>C | |
| 16 | g.50712303G>T | CA395872089 | NOD2 | c.2311G>T (p.Asp771Tyr) c.110G>T c.2392G>T (p.Asp798Tyr) c.1888G>T (p.Asp630Tyr) c.1726G>T (p.Asp576Tyr) n.2401G>T c.1819G>T (p.Asp607Tyr) n.2354G>T n.2376G>T | gnomAD v4 |
| 16 | g.50712304A>C | CA395872091 | NOD2 | c.2312A>C (p.Asp771Ala) c.111A>C c.2393A>C (p.Asp798Ala) c.1889A>C (p.Asp630Ala) c.1727A>C (p.Asp576Ala) n.2402A>C c.1820A>C (p.Asp607Ala) n.2355A>C n.2377A>C | |
| 16 | g.50712304A>G | CA395872093 | NOD2 | c.2312A>G (p.Asp771Gly) c.111A>G c.2393A>G (p.Asp798Gly) c.1889A>G (p.Asp630Gly) c.1727A>G (p.Asp576Gly) n.2402A>G c.1820A>G (p.Asp607Gly) n.2355A>G n.2377A>G | |
| 16 | g.50712304A>T | CA395872096 | NOD2 | c.2312A>T (p.Asp771Val) c.111A>T c.2393A>T (p.Asp798Val) c.1889A>T (p.Asp630Val) c.1727A>T (p.Asp576Val) n.2402A>T c.1820A>T (p.Asp607Val) n.2355A>T n.2377A>T | |
| 16 | g.50712305C>A | CA395872099 | NOD2 | c.2313C>A (p.Asp771Glu) c.112C>A c.2394C>A (p.Asp798Glu) c.1890C>A (p.Asp630Glu) c.1728C>A (p.Asp576Glu) n.2403C>A c.1821C>A (p.Asp607Glu) n.2356C>A n.2378C>A | |
| 16 | g.50712305C>G | CA395872102 | NOD2 | c.2313C>G (p.Asp771Glu) c.112C>G c.2394C>G (p.Asp798Glu) c.1890C>G (p.Asp630Glu) c.1728C>G (p.Asp576Glu) n.2403C>G c.1821C>G (p.Asp607Glu) n.2356C>G n.2378C>G | |
| 16 | g.50712305C>T | CA495779201 | NOD2 | c.2313C>T (p.Asp771=) c.112C>T c.2394C>T (p.Asp798=) c.1890C>T (p.Asp630=) c.1728C>T (p.Asp576=) n.2403C>T c.1821C>T (p.Asp607=) n.2356C>T n.2378C>T |