Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.50712054C>A | CA395871074 | NOD2 | c.2062C>A (p.Leu688Ile) c.2143C>A (p.Leu715Ile) c.1639C>A (p.Leu547Ile) c.1477C>A (p.Leu493Ile) n.2152C>A c.1570C>A (p.Leu524Ile) n.2105C>A n.2127C>A | |
16 | g.50712054C>G | CA395871076 | NOD2 | c.2062C>G (p.Leu688Val) c.2143C>G (p.Leu715Val) c.1639C>G (p.Leu547Val) c.1477C>G (p.Leu493Val) n.2152C>G c.1570C>G (p.Leu524Val) n.2105C>G n.2127C>G | |
16 | g.50712054C>T | CA395871077 | NOD2 | c.2062C>T (p.Leu688Phe) c.2143C>T (p.Leu715Phe) c.1639C>T (p.Leu547Phe) c.1477C>T (p.Leu493Phe) n.2152C>T c.1570C>T (p.Leu524Phe) n.2105C>T n.2127C>T | |
16 | g.50712055T>A | CA395871080 | NOD2 | c.2063T>A (p.Leu688His) c.2144T>A (p.Leu715His) c.1640T>A (p.Leu547His) c.1478T>A (p.Leu493His) n.2153T>A c.1571T>A (p.Leu524His) n.2106T>A n.2128T>A | |
16 | g.50712055T>C | CA395871083 | NOD2 | c.2063T>C (p.Leu688Pro) c.2144T>C (p.Leu715Pro) c.1640T>C (p.Leu547Pro) c.1478T>C (p.Leu493Pro) n.2153T>C c.1571T>C (p.Leu524Pro) n.2106T>C n.2128T>C | |
16 | g.50712055T>G | CA395871082 | NOD2 | c.2063T>G (p.Leu688Arg) c.2144T>G (p.Leu715Arg) c.1640T>G (p.Leu547Arg) c.1478T>G (p.Leu493Arg) n.2153T>G c.1571T>G (p.Leu524Arg) n.2106T>G n.2128T>G | |
16 | g.50712056C>A | CA495779468 | NOD2 | c.2064C>A (p.Leu688=) c.2145C>A (p.Leu715=) c.1641C>A (p.Leu547=) c.1479C>A (p.Leu493=) n.2154C>A c.1572C>A (p.Leu524=) n.2107C>A n.2129C>A | |
16 | g.50712056C>G | CA495779467 | NOD2 | c.2064C>G (p.Leu688=) c.2145C>G (p.Leu715=) c.1641C>G (p.Leu547=) c.1479C>G (p.Leu493=) n.2154C>G c.1572C>G (p.Leu524=) n.2107C>G n.2129C>G | |
16 | g.50712056C>T | CA495779466 | NOD2 | c.2064C>T (p.Leu688=) c.2145C>T (p.Leu715=) c.1641C>T (p.Leu547=) c.1479C>T (p.Leu493=) n.2154C>T c.1572C>T (p.Leu524=) n.2107C>T n.2129C>T | |
16 | g.50712057C>A | CA395871086 | NOD2 | c.2065C>A (p.Arg689Ser) c.2146C>A (p.Arg716Ser) c.1642C>A (p.Arg548Ser) c.1480C>A (p.Arg494Ser) n.2155C>A c.1573C>A (p.Arg525Ser) n.2108C>A n.2130C>A | |
16 | g.50712057C= | CA2221862564 | NOD2 | c.2065C= (p.Arg689=) c.2146C= (p.Arg716=) c.1642C= (p.Arg548=) c.1480C= (p.Arg494=) n.2155C= c.1573C= (p.Arg525=) n.2108C= n.2130C= | |
16 | g.50712057C>G | CA395871088 | NOD2 | c.2065C>G (p.Arg689Gly) c.2146C>G (p.Arg716Gly) c.1642C>G (p.Arg548Gly) c.1480C>G (p.Arg494Gly) n.2155C>G c.1573C>G (p.Arg525Gly) n.2108C>G n.2130C>G | gnomAD v4 |
16 | g.50712057C>T | CA8051706 | NOD2 | c.2065C>T (p.Arg689Cys) c.2146C>T (p.Arg716Cys) c.1642C>T (p.Arg548Cys) c.1480C>T (p.Arg494Cys) n.2155C>T c.1573C>T (p.Arg525Cys) n.2108C>T n.2130C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712058G>A | CA8051707 | NOD2 | c.2066G>A (p.Arg689His) c.2147G>A (p.Arg716His) c.1643G>A (p.Arg548His) c.1481G>A (p.Arg494His) n.2156G>A c.1574G>A (p.Arg525His) n.2109G>A n.2131G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712058G>C | CA395871092 | NOD2 | c.2066G>C (p.Arg689Pro) c.2147G>C (p.Arg716Pro) c.1643G>C (p.Arg548Pro) c.1481G>C (p.Arg494Pro) n.2156G>C c.1574G>C (p.Arg525Pro) n.2109G>C n.2131G>C | |
16 | g.50712058G= | CA2221862568 | NOD2 | c.2066G= (p.Arg689=) c.2147G= (p.Arg716=) c.1643G= (p.Arg548=) c.1481G= (p.Arg494=) n.2156G= c.1574G= (p.Arg525=) n.2109G= n.2131G= | |
16 | g.50712058G>T | CA395871093 | NOD2 | c.2066G>T (p.Arg689Leu) c.2147G>T (p.Arg716Leu) c.1643G>T (p.Arg548Leu) c.1481G>T (p.Arg494Leu) n.2156G>T c.1574G>T (p.Arg525Leu) n.2109G>T n.2131G>T | ClinVar gnomAD v4 |
16 | g.50712059C>A | CA495779476 | NOD2 | c.2067C>A (p.Arg689=) c.2148C>A (p.Arg716=) c.1644C>A (p.Arg548=) c.1482C>A (p.Arg494=) n.2157C>A c.1575C>A (p.Arg525=) n.2110C>A n.2132C>A | |
16 | g.50712059C>G | CA495779475 | NOD2 | c.2067C>G (p.Arg689=) c.2148C>G (p.Arg716=) c.1644C>G (p.Arg548=) c.1482C>G (p.Arg494=) n.2157C>G c.1575C>G (p.Arg525=) n.2110C>G n.2132C>G | |
16 | g.50712059C>T | CA495779474 | NOD2 | c.2067C>T (p.Arg689=) c.2148C>T (p.Arg716=) c.1644C>T (p.Arg548=) c.1482C>T (p.Arg494=) n.2157C>T c.1575C>T (p.Arg525=) n.2110C>T n.2132C>T | ClinVar |
16 | g.50712060A>C | CA395871096 | NOD2 | c.2068A>C (p.Lys690Gln) c.2149A>C (p.Lys717Gln) c.1645A>C (p.Lys549Gln) c.1483A>C (p.Lys495Gln) n.2158A>C c.1576A>C (p.Lys526Gln) n.2111A>C n.2133A>C | |
16 | g.50712060A>G | CA395871098 | NOD2 | c.2068A>G (p.Lys690Glu) c.2149A>G (p.Lys717Glu) c.1645A>G (p.Lys549Glu) c.1483A>G (p.Lys495Glu) n.2158A>G c.1576A>G (p.Lys526Glu) n.2111A>G n.2133A>G | |
16 | g.50712060A>T | CA395871099 | NOD2 | c.2068A>T (p.Lys690Ter) c.2149A>T (p.Lys717Ter) c.1645A>T (p.Lys549Ter) c.1483A>T (p.Lys495Ter) n.2158A>T c.1576A>T (p.Lys526Ter) n.2111A>T n.2133A>T | |
16 | g.50712061A>C | CA395871102 | NOD2 | c.2069A>C (p.Lys690Thr) c.2150A>C (p.Lys717Thr) c.1646A>C (p.Lys549Thr) c.1484A>C (p.Lys495Thr) n.2159A>C c.1577A>C (p.Lys526Thr) n.2112A>C n.2134A>C | |
16 | g.50712061A>G | CA395871103 | NOD2 | c.2069A>G (p.Lys690Arg) c.2150A>G (p.Lys717Arg) c.1646A>G (p.Lys549Arg) c.1484A>G (p.Lys495Arg) n.2159A>G c.1577A>G (p.Lys526Arg) n.2112A>G n.2134A>G | gnomAD v4 |
16 | g.50712061A>T | CA395871105 | NOD2 | c.2069A>T (p.Lys690Met) c.2150A>T (p.Lys717Met) c.1646A>T (p.Lys549Met) c.1484A>T (p.Lys495Met) n.2159A>T c.1577A>T (p.Lys526Met) n.2112A>T n.2134A>T | |
16 | g.50712062G>A | CA495778995 | NOD2 | c.2070G>A (p.Lys690=) c.2151G>A (p.Lys717=) c.1647G>A (p.Lys549=) c.1485G>A (p.Lys495=) n.2160G>A c.1578G>A (p.Lys526=) n.2113G>A n.2135G>A | gnomAD v4 |
16 | g.50712062G>C | CA395871106 | NOD2 | c.2070G>C (p.Lys690Asn) c.2151G>C (p.Lys717Asn) c.1647G>C (p.Lys549Asn) c.1485G>C (p.Lys495Asn) n.2160G>C c.1578G>C (p.Lys526Asn) n.2113G>C n.2135G>C | dbSNP gnomAD v2 |
16 | g.50712062G= | CA2221862570 | NOD2 | c.2070G= (p.Lys690=) c.2151G= (p.Lys717=) c.1647G= (p.Lys549=) c.1485G= (p.Lys495=) n.2160G= c.1578G= (p.Lys526=) n.2113G= n.2135G= | |
16 | g.50712062G>T | CA395871107 | NOD2 | c.2070G>T (p.Lys690Asn) c.2151G>T (p.Lys717Asn) c.1647G>T (p.Lys549Asn) c.1485G>T (p.Lys495Asn) n.2160G>T c.1578G>T (p.Lys526Asn) n.2113G>T n.2135G>T | |
16 | g.50712063C>A | CA395871108 | NOD2 | c.2071C>A (p.His691Asn) c.2152C>A (p.His718Asn) c.1648C>A (p.His550Asn) c.1486C>A (p.His496Asn) n.2161C>A c.1579C>A (p.His527Asn) n.2114C>A n.2136C>A | |
16 | g.50712063C>G | CA395871110 | NOD2 | c.2071C>G (p.His691Asp) c.2152C>G (p.His718Asp) c.1648C>G (p.His550Asp) c.1486C>G (p.His496Asp) n.2161C>G c.1579C>G (p.His527Asp) n.2114C>G n.2136C>G | |
16 | g.50712063C>T | CA395871109 | NOD2 | c.2071C>T (p.His691Tyr) c.2152C>T (p.His718Tyr) c.1648C>T (p.His550Tyr) c.1486C>T (p.His496Tyr) n.2161C>T c.1579C>T (p.His527Tyr) n.2114C>T n.2136C>T | |
16 | g.50712064A>C | CA395871113 | NOD2 | c.2072A>C (p.His691Pro) c.2153A>C (p.His718Pro) c.1649A>C (p.His550Pro) c.1487A>C (p.His496Pro) n.2162A>C c.1580A>C (p.His527Pro) n.2115A>C n.2137A>C | |
16 | g.50712064A>G | CA395871114 | NOD2 | c.2072A>G (p.His691Arg) c.2153A>G (p.His718Arg) c.1649A>G (p.His550Arg) c.1487A>G (p.His496Arg) n.2162A>G c.1580A>G (p.His527Arg) n.2115A>G n.2137A>G | |
16 | g.50712064A>T | CA395871116 | NOD2 | c.2072A>T (p.His691Leu) c.2153A>T (p.His718Leu) c.1649A>T (p.His550Leu) c.1487A>T (p.His496Leu) n.2162A>T c.1580A>T (p.His527Leu) n.2115A>T n.2137A>T | |
16 | g.50712065C>A | CA395871118 | NOD2 | c.2073C>A (p.His691Gln) c.2154C>A (p.His718Gln) c.1650C>A (p.His550Gln) c.1488C>A (p.His496Gln) n.2163C>A c.1581C>A (p.His527Gln) n.2116C>A n.2138C>A | |
16 | g.50712065C= | CA2221862572 | NOD2 | c.2073C= (p.His691=) c.2154C= (p.His718=) c.1650C= (p.His550=) c.1488C= (p.His496=) n.2163C= c.1581C= (p.His527=) n.2116C= n.2138C= | |
16 | g.50712065C>G | CA395871120 | NOD2 | c.2073C>G (p.His691Gln) c.2154C>G (p.His718Gln) c.1650C>G (p.His550Gln) c.1488C>G (p.His496Gln) n.2163C>G c.1581C>G (p.His527Gln) n.2116C>G n.2138C>G | gnomAD v4 |
16 | g.50712065C>T | CA8051708 | NOD2 | c.2073C>T (p.His691=) c.2154C>T (p.His718=) c.1650C>T (p.His550=) c.1488C>T (p.His496=) n.2163C>T c.1581C>T (p.His527=) n.2116C>T n.2138C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712066T>A | CA395871121 | NOD2 | c.2074T>A (p.Phe692Ile) c.2155T>A (p.Phe719Ile) c.1651T>A (p.Phe551Ile) c.1489T>A (p.Phe497Ile) n.2164T>A c.1582T>A (p.Phe528Ile) n.2117T>A n.2139T>A | |
16 | g.50712066T>C | CA395871123 | NOD2 | c.2074T>C (p.Phe692Leu) c.2155T>C (p.Phe719Leu) c.1651T>C (p.Phe551Leu) c.1489T>C (p.Phe497Leu) n.2164T>C c.1582T>C (p.Phe528Leu) n.2117T>C n.2139T>C | |
16 | g.50712066T>G | CA395871125 | NOD2 | c.2074T>G (p.Phe692Val) c.2155T>G (p.Phe719Val) c.1651T>G (p.Phe551Val) c.1489T>G (p.Phe497Val) n.2164T>G c.1582T>G (p.Phe528Val) n.2117T>G n.2139T>G | |
16 | g.50712067T>A | CA395871128 | NOD2 | c.2075T>A (p.Phe692Tyr) c.2156T>A (p.Phe719Tyr) c.1652T>A (p.Phe551Tyr) c.1490T>A (p.Phe497Tyr) n.2165T>A c.1583T>A (p.Phe528Tyr) n.2118T>A n.2140T>A | |
16 | g.50712067T>C | CA395871130 | NOD2 | c.2075T>C (p.Phe692Ser) c.2156T>C (p.Phe719Ser) c.1652T>C (p.Phe551Ser) c.1490T>C (p.Phe497Ser) n.2165T>C c.1583T>C (p.Phe528Ser) n.2118T>C n.2140T>C | |
16 | g.50712067T>G | CA395871132 | NOD2 | c.2075T>G (p.Phe692Cys) c.2156T>G (p.Phe719Cys) c.1652T>G (p.Phe551Cys) c.1490T>G (p.Phe497Cys) n.2165T>G c.1583T>G (p.Phe528Cys) n.2118T>G n.2140T>G | |
16 | g.50712068C>A | CA395871134 | NOD2 | c.2076C>A (p.Phe692Leu) c.2157C>A (p.Phe719Leu) c.1653C>A (p.Phe551Leu) c.1491C>A (p.Phe497Leu) n.2166C>A c.1584C>A (p.Phe528Leu) n.2119C>A n.2141C>A | |
16 | g.50712068C>G | CA395871133 | NOD2 | c.2076C>G (p.Phe692Leu) c.2157C>G (p.Phe719Leu) c.1653C>G (p.Phe551Leu) c.1491C>G (p.Phe497Leu) n.2166C>G c.1584C>G (p.Phe528Leu) n.2119C>G n.2141C>G | |
16 | g.50712068C>T | CA495778996 | NOD2 | c.2076C>T (p.Phe692=) c.2157C>T (p.Phe719=) c.1653C>T (p.Phe551=) c.1491C>T (p.Phe497=) n.2166C>T c.1584C>T (p.Phe528=) n.2119C>T n.2141C>T | |
16 | g.50712069dup | CA2633164582 | NOD2 | c.2077dup (p.His693ProfsTer10) c.2158dup (p.His720ProfsTer10) c.1654dup (p.His552ProfsTer10) c.1492dup (p.His498ProfsTer10) n.2167dup c.1585dup (p.His529ProfsTer10) n.2120dup n.2142dup | gnomAD v4 |
16 | g.50712069C>A | CA395871136 | NOD2 | c.2077C>A (p.His693Asn) c.2158C>A (p.His720Asn) c.1654C>A (p.His552Asn) c.1492C>A (p.His498Asn) n.2167C>A c.1585C>A (p.His529Asn) n.2120C>A n.2142C>A | |
16 | g.50712069C= | CA2221862574 | NOD2 | c.2077C= (p.His693=) c.2158C= (p.His720=) c.1654C= (p.His552=) c.1492C= (p.His498=) n.2167C= c.1585C= (p.His529=) n.2120C= n.2142C= | |
16 | g.50712069C>G | CA395871138 | NOD2 | c.2077C>G (p.His693Asp) c.2158C>G (p.His720Asp) c.1654C>G (p.His552Asp) c.1492C>G (p.His498Asp) n.2167C>G c.1585C>G (p.His529Asp) n.2120C>G n.2142C>G | |
16 | g.50712069C>T | CA8051709 | NOD2 | c.2077C>T (p.His693Tyr) c.2158C>T (p.His720Tyr) c.1654C>T (p.His552Tyr) c.1492C>T (p.His498Tyr) n.2167C>T c.1585C>T (p.His529Tyr) n.2120C>T n.2142C>T | dbSNP ExAC gnomAD v2 |
16 | g.50712070A>C | CA395871140 | NOD2 | c.2078A>C (p.His693Pro) c.2159A>C (p.His720Pro) c.1655A>C (p.His552Pro) c.1493A>C (p.His498Pro) n.2168A>C c.1586A>C (p.His529Pro) n.2121A>C n.2143A>C | |
16 | g.50712070A>G | CA395871142 | NOD2 | c.2078A>G (p.His693Arg) c.2159A>G (p.His720Arg) c.1655A>G (p.His552Arg) c.1493A>G (p.His498Arg) n.2168A>G c.1586A>G (p.His529Arg) n.2121A>G n.2143A>G | |
16 | g.50712070A>T | CA395871144 | NOD2 | c.2078A>T (p.His693Leu) c.2159A>T (p.His720Leu) c.1655A>T (p.His552Leu) c.1493A>T (p.His498Leu) n.2168A>T c.1586A>T (p.His529Leu) n.2121A>T n.2143A>T | |
16 | g.50712071C>A | CA395871146 | NOD2 | c.2079C>A (p.His693Gln) c.2160C>A (p.His720Gln) c.1656C>A (p.His552Gln) c.1494C>A (p.His498Gln) n.2169C>A c.1587C>A (p.His529Gln) n.2122C>A n.2144C>A | ClinVar |
16 | g.50712071C= | CA2221862579 | NOD2 | c.2079C= (p.His693=) c.2160C= (p.His720=) c.1656C= (p.His552=) c.1494C= (p.His498=) n.2169C= c.1587C= (p.His529=) n.2122C= n.2144C= | |
16 | g.50712071C>G | CA395871148 | NOD2 | c.2079C>G (p.His693Gln) c.2160C>G (p.His720Gln) c.1656C>G (p.His552Gln) c.1494C>G (p.His498Gln) n.2169C>G c.1587C>G (p.His529Gln) n.2122C>G n.2144C>G | |
16 | g.50712071C>T | CA8051710 | NOD2 | c.2079C>T (p.His693=) c.2160C>T (p.His720=) c.1656C>T (p.His552=) c.1494C>T (p.His498=) n.2169C>T c.1587C>T (p.His529=) n.2122C>T n.2144C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712072T>A | CA395871152 | NOD2 | c.2080T>A (p.Ser694Thr) c.2161T>A (p.Ser721Thr) c.1657T>A (p.Ser553Thr) c.1495T>A (p.Ser499Thr) n.2170T>A c.1588T>A (p.Ser530Thr) n.2123T>A n.2145T>A | |
16 | g.50712072T>C | CA395871153 | NOD2 | c.2080T>C (p.Ser694Pro) c.2161T>C (p.Ser721Pro) c.1657T>C (p.Ser553Pro) c.1495T>C (p.Ser499Pro) n.2170T>C c.1588T>C (p.Ser530Pro) n.2123T>C n.2145T>C | |
16 | g.50712072T>G | CA395871154 | NOD2 | c.2080T>G (p.Ser694Ala) c.2161T>G (p.Ser721Ala) c.1657T>G (p.Ser553Ala) c.1495T>G (p.Ser499Ala) n.2170T>G c.1588T>G (p.Ser530Ala) n.2123T>G n.2145T>G | |
16 | g.50712073C>A | CA395871160 | NOD2 | c.2081C>A (p.Ser694Tyr) c.2162C>A (p.Ser721Tyr) c.1658C>A (p.Ser553Tyr) c.1496C>A (p.Ser499Tyr) n.2171C>A c.1589C>A (p.Ser530Tyr) n.2124C>A n.2146C>A | gnomAD v4 |
16 | g.50712073C>G | CA395871158 | NOD2 | c.2081C>G (p.Ser694Cys) c.2162C>G (p.Ser721Cys) c.1658C>G (p.Ser553Cys) c.1496C>G (p.Ser499Cys) n.2171C>G c.1589C>G (p.Ser530Cys) n.2124C>G n.2146C>G | |
16 | g.50712073C>T | CA395871156 | NOD2 | c.2081C>T (p.Ser694Phe) c.2162C>T (p.Ser721Phe) c.1658C>T (p.Ser553Phe) c.1496C>T (p.Ser499Phe) n.2171C>T c.1589C>T (p.Ser530Phe) n.2124C>T n.2146C>T | gnomAD v4 |
16 | g.50712074C>A | CA495778997 | NOD2 | c.2082C>A (p.Ser694=) c.2163C>A (p.Ser721=) c.1659C>A (p.Ser553=) c.1497C>A (p.Ser499=) n.2172C>A c.1590C>A (p.Ser530=) n.2125C>A n.2147C>A | |
16 | g.50712074C= | CA2221862582 | NOD2 | c.2082C= (p.Ser694=) c.2163C= (p.Ser721=) c.1659C= (p.Ser553=) c.1497C= (p.Ser499=) n.2172C= c.1590C= (p.Ser530=) n.2125C= n.2147C= | |
16 | g.50712074C>G | CA495778998 | NOD2 | c.2082C>G (p.Ser694=) c.2163C>G (p.Ser721=) c.1659C>G (p.Ser553=) c.1497C>G (p.Ser499=) n.2172C>G c.1590C>G (p.Ser530=) n.2125C>G n.2147C>G | |
16 | g.50712074C>T | CA8051711 | NOD2 | c.2082C>T (p.Ser694=) c.2163C>T (p.Ser721=) c.1659C>T (p.Ser553=) c.1497C>T (p.Ser499=) n.2172C>T c.1590C>T (p.Ser530=) n.2125C>T n.2147C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712075A>C | CA395871163 | NOD2 | c.2083A>C (p.Ile695Leu) c.2164A>C (p.Ile722Leu) c.1660A>C (p.Ile554Leu) c.1498A>C (p.Ile500Leu) n.2173A>C c.1591A>C (p.Ile531Leu) n.2126A>C n.2148A>C | |
16 | g.50712075A>G | CA395871164 | NOD2 | c.2083A>G (p.Ile695Val) c.2164A>G (p.Ile722Val) c.1660A>G (p.Ile554Val) c.1498A>G (p.Ile500Val) n.2173A>G c.1591A>G (p.Ile531Val) n.2126A>G n.2148A>G | |
16 | g.50712075A>T | CA395871166 | NOD2 | c.2083A>T (p.Ile695Phe) c.2164A>T (p.Ile722Phe) c.1660A>T (p.Ile554Phe) c.1498A>T (p.Ile500Phe) n.2173A>T c.1591A>T (p.Ile531Phe) n.2126A>T n.2148A>T | |
16 | g.50712076T>A | CA395871168 | NOD2 | c.2084T>A (p.Ile695Asn) c.2165T>A (p.Ile722Asn) c.1661T>A (p.Ile554Asn) c.1499T>A (p.Ile500Asn) n.2174T>A c.1592T>A (p.Ile531Asn) n.2127T>A n.2149T>A | |
16 | g.50712076T>C | CA395871170 | NOD2 | c.2084T>C (p.Ile695Thr) c.2165T>C (p.Ile722Thr) c.1661T>C (p.Ile554Thr) c.1499T>C (p.Ile500Thr) n.2174T>C c.1592T>C (p.Ile531Thr) n.2127T>C n.2149T>C | |
16 | g.50712076T>G | CA395871172 | NOD2 | c.2084T>G (p.Ile695Ser) c.2165T>G (p.Ile722Ser) c.1661T>G (p.Ile554Ser) c.1499T>G (p.Ile500Ser) n.2174T>G c.1592T>G (p.Ile531Ser) n.2127T>G n.2149T>G | |
16 | g.50712077C>A | CA495778999 | NOD2 | c.2085C>A (p.Ile695=) c.2166C>A (p.Ile722=) c.1662C>A (p.Ile554=) c.1500C>A (p.Ile500=) n.2175C>A c.1593C>A (p.Ile531=) n.2128C>A n.2150C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50712077C= | CA2221862586 | NOD2 | c.2085C= (p.Ile695=) c.2166C= (p.Ile722=) c.1662C= (p.Ile554=) c.1500C= (p.Ile500=) n.2175C= c.1593C= (p.Ile531=) n.2128C= n.2150C= | |
16 | g.50712077C>G | CA395871174 | NOD2 | c.2085C>G (p.Ile695Met) c.2166C>G (p.Ile722Met) c.1662C>G (p.Ile554Met) c.1500C>G (p.Ile500Met) n.2175C>G c.1593C>G (p.Ile531Met) n.2128C>G n.2150C>G | |
16 | g.50712077C>T | CA495779000 | NOD2 | c.2085C>T (p.Ile695=) c.2166C>T (p.Ile722=) c.1662C>T (p.Ile554=) c.1500C>T (p.Ile500=) n.2175C>T c.1593C>T (p.Ile531=) n.2128C>T n.2150C>T | |
16 | g.50712078C>A | CA395871176 | NOD2 | c.2086C>A (p.Pro696Thr) c.2167C>A (p.Pro723Thr) c.1663C>A (p.Pro555Thr) c.1501C>A (p.Pro501Thr) n.2176C>A c.1594C>A (p.Pro532Thr) n.2129C>A n.2151C>A | |
16 | g.50712078C= | CA2221862589 | NOD2 | c.2086C= (p.Pro696=) c.2167C= (p.Pro723=) c.1663C= (p.Pro555=) c.1501C= (p.Pro501=) n.2176C= c.1594C= (p.Pro532=) n.2129C= n.2151C= | |
16 | g.50712078C>G | CA395871178 | NOD2 | c.2086C>G (p.Pro696Ala) c.2167C>G (p.Pro723Ala) c.1663C>G (p.Pro555Ala) c.1501C>G (p.Pro501Ala) n.2176C>G c.1594C>G (p.Pro532Ala) n.2129C>G n.2151C>G | |
16 | g.50712078C>T | CA281263968 | NOD2 | c.2086C>T (p.Pro696Ser) c.2167C>T (p.Pro723Ser) c.1663C>T (p.Pro555Ser) c.1501C>T (p.Pro501Ser) n.2176C>T c.1594C>T (p.Pro532Ser) n.2129C>T n.2151C>T | dbSNP |
16 | g.50712079C>A | CA395871182 | NOD2 | c.2087C>A (p.Pro696Gln) c.2168C>A (p.Pro723Gln) c.1664C>A (p.Pro555Gln) c.1502C>A (p.Pro501Gln) n.2177C>A c.1595C>A (p.Pro532Gln) n.2130C>A n.2152C>A | |
16 | g.50712079C= | CA2221862592 | NOD2 | c.2087C= (p.Pro696=) c.2168C= (p.Pro723=) c.1664C= (p.Pro555=) c.1502C= (p.Pro501=) n.2177C= c.1595C= (p.Pro532=) n.2130C= n.2152C= | |
16 | g.50712079C>G | CA395871184 | NOD2 | c.2087C>G (p.Pro696Arg) c.2168C>G (p.Pro723Arg) c.1664C>G (p.Pro555Arg) c.1502C>G (p.Pro501Arg) n.2177C>G c.1595C>G (p.Pro532Arg) n.2130C>G n.2152C>G | |
16 | g.50712079C>T | CA8051712 | NOD2 | c.2087C>T (p.Pro696Leu) c.2168C>T (p.Pro723Leu) c.1664C>T (p.Pro555Leu) c.1502C>T (p.Pro501Leu) n.2177C>T c.1595C>T (p.Pro532Leu) n.2130C>T n.2152C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712080G>A | CA281263972 | NOD2 | c.2088G>A (p.Pro696=) c.2169G>A (p.Pro723=) c.1665G>A (p.Pro555=) c.1503G>A (p.Pro501=) n.2178G>A c.1596G>A (p.Pro532=) n.2131G>A n.2153G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.50712080G>C | CA495779001 | NOD2 | c.2088G>C (p.Pro696=) c.2169G>C (p.Pro723=) c.1665G>C (p.Pro555=) c.1503G>C (p.Pro501=) n.2178G>C c.1596G>C (p.Pro532=) n.2131G>C n.2153G>C | |
16 | g.50712080G= | CA2221862595 | NOD2 | c.2088G= (p.Pro696=) c.2169G= (p.Pro723=) c.1665G= (p.Pro555=) c.1503G= (p.Pro501=) n.2178G= c.1596G= (p.Pro532=) n.2131G= n.2153G= | |
16 | g.50712080G>T | CA8051713 | NOD2 | c.2088G>T (p.Pro696=) c.2169G>T (p.Pro723=) c.1665G>T (p.Pro555=) c.1503G>T (p.Pro501=) n.2178G>T c.1596G>T (p.Pro532=) n.2131G>T n.2153G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50712081C>A | CA395871188 | NOD2 | c.2089C>A (p.Pro697Thr) c.2170C>A (p.Pro724Thr) c.1666C>A (p.Pro556Thr) c.1504C>A (p.Pro502Thr) n.2179C>A c.1597C>A (p.Pro533Thr) n.2132C>A n.2154C>A | |
16 | g.50712081C>G | CA395871189 | NOD2 | c.2089C>G (p.Pro697Ala) c.2170C>G (p.Pro724Ala) c.1666C>G (p.Pro556Ala) c.1504C>G (p.Pro502Ala) n.2179C>G c.1597C>G (p.Pro533Ala) n.2132C>G n.2154C>G | |
16 | g.50712081C>T | CA395871191 | NOD2 | c.2089C>T (p.Pro697Ser) c.2170C>T (p.Pro724Ser) c.1666C>T (p.Pro556Ser) c.1504C>T (p.Pro502Ser) n.2179C>T c.1597C>T (p.Pro533Ser) n.2132C>T n.2154C>T | |
16 | g.50712082C>A | CA395871193 | NOD2 | c.2090C>A (p.Pro697Gln) c.2171C>A (p.Pro724Gln) c.1667C>A (p.Pro556Gln) c.1505C>A (p.Pro502Gln) n.2180C>A c.1598C>A (p.Pro533Gln) n.2133C>A n.2155C>A | gnomAD v4 |
16 | g.50712082C= | CA2221862598 | NOD2 | c.2090C= (p.Pro697=) c.2171C= (p.Pro724=) c.1667C= (p.Pro556=) c.1505C= (p.Pro502=) n.2180C= c.1598C= (p.Pro533=) n.2133C= n.2155C= | |
16 | g.50712082C>G | CA395871194 | NOD2 | c.2090C>G (p.Pro697Arg) c.2171C>G (p.Pro724Arg) c.1667C>G (p.Pro556Arg) c.1505C>G (p.Pro502Arg) n.2180C>G c.1598C>G (p.Pro533Arg) n.2133C>G n.2155C>G | |
16 | g.50712082C>T | CA395871195 | NOD2 | c.2090C>T (p.Pro697Leu) c.2171C>T (p.Pro724Leu) c.1667C>T (p.Pro556Leu) c.1505C>T (p.Pro502Leu) n.2180C>T c.1598C>T (p.Pro533Leu) n.2133C>T n.2155C>T | dbSNP gnomAD v4 |
16 | g.50712083A= | CA2221862600 | NOD2 | c.2091A= (p.Pro697=) c.2172A= (p.Pro724=) c.1668A= (p.Pro556=) c.1506A= (p.Pro502=) n.2181A= c.1599A= (p.Pro533=) n.2134A= n.2156A= | |
16 | g.50712083A>C | CA495779002 | NOD2 | c.2091A>C (p.Pro697=) c.2172A>C (p.Pro724=) c.1668A>C (p.Pro556=) c.1506A>C (p.Pro502=) n.2181A>C c.1599A>C (p.Pro533=) n.2134A>C n.2156A>C | gnomAD v4 COSMIC |
16 | g.50712083A>G | CA495779003 | NOD2 | c.2091A>G (p.Pro697=) c.2172A>G (p.Pro724=) c.1668A>G (p.Pro556=) c.1506A>G (p.Pro502=) n.2181A>G c.1599A>G (p.Pro533=) n.2134A>G n.2156A>G | dbSNP gnomAD v2 |
16 | g.50712083A>T | CA495779004 | NOD2 | c.2091A>T (p.Pro697=) c.2172A>T (p.Pro724=) c.1668A>T (p.Pro556=) c.1506A>T (p.Pro502=) n.2181A>T c.1599A>T (p.Pro533=) n.2134A>T n.2156A>T | |
16 | g.50712084G>A | CA395871196 | NOD2 | c.2092G>A (p.Ala698Thr) c.2173G>A (p.Ala725Thr) c.1669G>A (p.Ala557Thr) c.1507G>A (p.Ala503Thr) n.2182G>A c.1600G>A (p.Ala534Thr) n.2135G>A n.2157G>A | |
16 | g.50712084G>C | CA395871198 | NOD2 | c.2092G>C (p.Ala698Pro) c.2173G>C (p.Ala725Pro) c.1669G>C (p.Ala557Pro) c.1507G>C (p.Ala503Pro) n.2182G>C c.1600G>C (p.Ala534Pro) n.2135G>C n.2157G>C | gnomAD v4 |
16 | g.50712084G>T | CA395871200 | NOD2 | c.2092G>T (p.Ala698Ser) c.2173G>T (p.Ala725Ser) c.1669G>T (p.Ala557Ser) c.1507G>T (p.Ala503Ser) n.2182G>T c.1600G>T (p.Ala534Ser) n.2135G>T n.2157G>T | |
16 | g.50712085C>A | CA395871202 | NOD2 | c.2093C>A (p.Ala698Asp) c.2174C>A (p.Ala725Asp) c.1670C>A (p.Ala557Asp) c.1508C>A (p.Ala503Asp) n.2183C>A c.1601C>A (p.Ala534Asp) n.2136C>A n.2158C>A | |
16 | g.50712085C= | CA2221862606 | NOD2 | c.2093C= (p.Ala698=) c.2174C= (p.Ala725=) c.1670C= (p.Ala557=) c.1508C= (p.Ala503=) n.2183C= c.1601C= (p.Ala534=) n.2136C= n.2158C= | |
16 | g.50712085C>G | CA8051714 | NOD2 | c.2093C>G (p.Ala698Gly) c.2174C>G (p.Ala725Gly) c.1670C>G (p.Ala557Gly) c.1508C>G (p.Ala503Gly) n.2183C>G c.1601C>G (p.Ala534Gly) n.2136C>G n.2158C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712085C>T | CA395871205 | NOD2 | c.2093C>T (p.Ala698Val) c.2174C>T (p.Ala725Val) c.1670C>T (p.Ala557Val) c.1508C>T (p.Ala503Val) n.2183C>T c.1601C>T (p.Ala534Val) n.2136C>T n.2158C>T | |
16 | g.50712086T>A | CA495779005 | NOD2 | c.2094T>A (p.Ala698=) c.2175T>A (p.Ala725=) c.1671T>A (p.Ala557=) c.1509T>A (p.Ala503=) n.2184T>A c.1602T>A (p.Ala534=) n.2137T>A n.2159T>A | |
16 | g.50712086T>C | CA495779006 | NOD2 | c.2094T>C (p.Ala698=) c.2175T>C (p.Ala725=) c.1671T>C (p.Ala557=) c.1509T>C (p.Ala503=) n.2184T>C c.1602T>C (p.Ala534=) n.2137T>C n.2159T>C | |
16 | g.50712086T>G | CA495779007 | NOD2 | c.2094T>G (p.Ala698=) c.2175T>G (p.Ala725=) c.1671T>G (p.Ala557=) c.1509T>G (p.Ala503=) n.2184T>G c.1602T>G (p.Ala534=) n.2137T>G n.2159T>G | |
16 | g.50712087G>A | CA395871211 | NOD2 | c.2095G>A (p.Ala699Thr) c.2176G>A (p.Ala726Thr) c.1672G>A (p.Ala558Thr) c.1510G>A (p.Ala504Thr) n.2185G>A c.1603G>A (p.Ala535Thr) n.2138G>A n.2160G>A | |
16 | g.50712087G>C | CA395871210 | NOD2 | c.2095G>C (p.Ala699Pro) c.2176G>C (p.Ala726Pro) c.1672G>C (p.Ala558Pro) c.1510G>C (p.Ala504Pro) n.2185G>C c.1603G>C (p.Ala535Pro) n.2138G>C n.2160G>C | |
16 | g.50712087G>T | CA395871208 | NOD2 | c.2095G>T (p.Ala699Ser) c.2176G>T (p.Ala726Ser) c.1672G>T (p.Ala558Ser) c.1510G>T (p.Ala504Ser) n.2185G>T c.1603G>T (p.Ala535Ser) n.2138G>T n.2160G>T | |
16 | g.50712088C>A | CA395871214 | NOD2 | c.2096C>A (p.Ala699Glu) c.2177C>A (p.Ala726Glu) c.1673C>A (p.Ala558Glu) c.1511C>A (p.Ala504Glu) n.2186C>A c.1604C>A (p.Ala535Glu) n.2139C>A n.2161C>A | |
16 | g.50712088C= | CA2221862609 | NOD2 | c.2096C= (p.Ala699=) c.2177C= (p.Ala726=) c.1673C= (p.Ala558=) c.1511C= (p.Ala504=) n.2186C= c.1604C= (p.Ala535=) n.2139C= n.2161C= | |
16 | g.50712088C>G | CA395871216 | NOD2 | c.2096C>G (p.Ala699Gly) c.2177C>G (p.Ala726Gly) c.1673C>G (p.Ala558Gly) c.1511C>G (p.Ala504Gly) n.2186C>G c.1604C>G (p.Ala535Gly) n.2139C>G n.2161C>G | |
16 | g.50712088C>T | CA395871218 | NOD2 | c.2096C>T (p.Ala699Val) c.2177C>T (p.Ala726Val) c.1673C>T (p.Ala558Val) c.1511C>T (p.Ala504Val) n.2186C>T c.1604C>T (p.Ala535Val) n.2139C>T n.2161C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.50712089A>C | CA495779010 | NOD2 | c.2097A>C (p.Ala699=) c.2178A>C (p.Ala726=) c.1674A>C (p.Ala558=) c.1512A>C (p.Ala504=) n.2187A>C c.1605A>C (p.Ala535=) n.2140A>C n.2162A>C | |
16 | g.50712089A>G | CA495779009 | NOD2 | c.2097A>G (p.Ala699=) c.2178A>G (p.Ala726=) c.1674A>G (p.Ala558=) c.1512A>G (p.Ala504=) n.2187A>G c.1605A>G (p.Ala535=) n.2140A>G n.2162A>G | gnomAD v4 |
16 | g.50712089A>T | CA495779008 | NOD2 | c.2097A>T (p.Ala699=) c.2178A>T (p.Ala726=) c.1674A>T (p.Ala558=) c.1512A>T (p.Ala504=) n.2187A>T c.1605A>T (p.Ala535=) n.2140A>T n.2162A>T | |
16 | g.50712090C>A | CA395871220 | NOD2 | c.2098C>A (p.Pro700Thr) c.2179C>A (p.Pro727Thr) c.1675C>A (p.Pro559Thr) c.1513C>A (p.Pro505Thr) n.2188C>A c.1606C>A (p.Pro536Thr) n.2141C>A n.2163C>A | |
16 | g.50712090C= | CA2221862615 | NOD2 | c.2098C= (p.Pro700=) c.2179C= (p.Pro727=) c.1675C= (p.Pro559=) c.1513C= (p.Pro505=) n.2188C= c.1606C= (p.Pro536=) n.2141C= n.2163C= | |
16 | g.50712090C>G | CA395871221 | NOD2 | c.2098C>G (p.Pro700Ala) c.2179C>G (p.Pro727Ala) c.1675C>G (p.Pro559Ala) c.1513C>G (p.Pro505Ala) n.2188C>G c.1606C>G (p.Pro536Ala) n.2141C>G n.2163C>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50712090C>T | CA395871223 | NOD2 | c.2098C>T (p.Pro700Ser) c.2179C>T (p.Pro727Ser) c.1675C>T (p.Pro559Ser) c.1513C>T (p.Pro505Ser) n.2188C>T c.1606C>T (p.Pro536Ser) n.2141C>T n.2163C>T | ClinVar dbSNP gnomAD v4 |
16 | g.50712091C>A | CA395871225 | NOD2 | c.2099C>A (p.Pro700Gln) c.2180C>A (p.Pro727Gln) c.1676C>A (p.Pro559Gln) c.1514C>A (p.Pro505Gln) n.2189C>A c.1607C>A (p.Pro536Gln) n.2142C>A n.2164C>A | ClinVar gnomAD v4 |
16 | g.50712091C= | CA2221862622 | NOD2 | c.2099C= (p.Pro700=) c.2180C= (p.Pro727=) c.1676C= (p.Pro559=) c.1514C= (p.Pro505=) n.2189C= c.1607C= (p.Pro536=) n.2142C= n.2164C= | |
16 | g.50712091C>G | CA395871227 | NOD2 | c.2099C>G (p.Pro700Arg) c.2180C>G (p.Pro727Arg) c.1676C>G (p.Pro559Arg) c.1514C>G (p.Pro505Arg) n.2189C>G c.1607C>G (p.Pro536Arg) n.2142C>G n.2164C>G | |
16 | g.50712091C>T | CA150247 | NOD2 | c.2099C>T (p.Pro700Leu) c.2180C>T (p.Pro727Leu) c.1676C>T (p.Pro559Leu) c.1514C>T (p.Pro505Leu) n.2189C>T c.1607C>T (p.Pro536Leu) n.2142C>T n.2164C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.50712092G>A | CA8051715 | NOD2 | c.2100G>A (p.Pro700=) c.2181G>A (p.Pro727=) c.1677G>A (p.Pro559=) c.1515G>A (p.Pro505=) n.2190G>A c.1608G>A (p.Pro536=) n.2143G>A n.2165G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712092G>C | CA8051716 | NOD2 | c.2100G>C (p.Pro700=) c.2181G>C (p.Pro727=) c.1677G>C (p.Pro559=) c.1515G>C (p.Pro505=) n.2190G>C c.1608G>C (p.Pro536=) n.2143G>C n.2165G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50712092G= | CA2221862625 | NOD2 | c.2100G= (p.Pro700=) c.2181G= (p.Pro727=) c.1677G= (p.Pro559=) c.1515G= (p.Pro505=) n.2190G= c.1608G= (p.Pro536=) n.2143G= n.2165G= | |
16 | g.50712092G>T | CA495779011 | NOD2 | c.2100G>T (p.Pro700=) c.2181G>T (p.Pro727=) c.1677G>T (p.Pro559=) c.1515G>T (p.Pro505=) n.2190G>T c.1608G>T (p.Pro536=) n.2143G>T n.2165G>T | |
16 | g.50712093G>A | CA395871232 | NOD2 | c.2101G>A (p.Gly701Ser) c.2182G>A (p.Gly728Ser) c.1678G>A (p.Gly560Ser) c.1516G>A (p.Gly506Ser) n.2191G>A c.1609G>A (p.Gly537Ser) n.2144G>A n.2166G>A | ClinVar dbSNP gnomAD v4 |
16 | g.50712093G>C | CA395871234 | NOD2 | c.2101G>C (p.Gly701Arg) c.2182G>C (p.Gly728Arg) c.1678G>C (p.Gly560Arg) c.1516G>C (p.Gly506Arg) n.2191G>C c.1609G>C (p.Gly537Arg) n.2144G>C n.2166G>C | |
16 | g.50712093G= | CA2221862631 | NOD2 | c.2101G= (p.Gly701=) c.2182G= (p.Gly728=) c.1678G= (p.Gly560=) c.1516G= (p.Gly506=) n.2191G= c.1609G= (p.Gly537=) n.2144G= n.2166G= | |
16 | g.50712093G>T | CA395871236 | NOD2 | c.2101G>T (p.Gly701Cys) c.2182G>T (p.Gly728Cys) c.1678G>T (p.Gly560Cys) c.1516G>T (p.Gly506Cys) n.2191G>T c.1609G>T (p.Gly537Cys) n.2144G>T n.2166G>T | dbSNP |
16 | g.50712094G>A | CA395871242 | NOD2 | c.2102G>A (p.Gly701Asp) c.2183G>A (p.Gly728Asp) c.1679G>A (p.Gly560Asp) c.1517G>A (p.Gly506Asp) n.2192G>A c.1610G>A (p.Gly537Asp) n.2145G>A n.2167G>A | |
16 | g.50712094G>C | CA395871241 | NOD2 | c.2102G>C (p.Gly701Ala) c.2183G>C (p.Gly728Ala) c.1679G>C (p.Gly560Ala) c.1517G>C (p.Gly506Ala) n.2192G>C c.1610G>C (p.Gly537Ala) n.2145G>C n.2167G>C | dbSNP gnomAD v4 |
16 | g.50712094G= | CA2221862635 | NOD2 | c.2102G= (p.Gly701=) c.2183G= (p.Gly728=) c.1679G= (p.Gly560=) c.1517G= (p.Gly506=) n.2192G= c.1610G= (p.Gly537=) n.2145G= n.2167G= | |
16 | g.50712094G>T | CA395871240 | NOD2 | c.2102G>T (p.Gly701Val) c.2183G>T (p.Gly728Val) c.1679G>T (p.Gly560Val) c.1517G>T (p.Gly506Val) n.2192G>T c.1610G>T (p.Gly537Val) n.2145G>T n.2167G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50712095T>A | CA495779012 | NOD2 | c.2103T>A (p.Gly701=) c.2184T>A (p.Gly728=) c.1680T>A (p.Gly560=) c.1518T>A (p.Gly506=) n.2193T>A c.1611T>A (p.Gly537=) n.2146T>A n.2168T>A | |
16 | g.50712095T>C | CA495779014 | NOD2 | c.2103T>C (p.Gly701=) c.2184T>C (p.Gly728=) c.1680T>C (p.Gly560=) c.1518T>C (p.Gly506=) n.2193T>C c.1611T>C (p.Gly537=) n.2146T>C n.2168T>C | COSMIC |
16 | g.50712095T>G | CA495779013 | NOD2 | c.2103T>G (p.Gly701=) c.2184T>G (p.Gly728=) c.1680T>G (p.Gly560=) c.1518T>G (p.Gly506=) n.2193T>G c.1611T>G (p.Gly537=) n.2146T>G n.2168T>G | |
16 | g.50712096G>A | CA395871245 | NOD2 | c.2104G>A (p.Glu702Lys) c.2185G>A (p.Glu729Lys) c.1681G>A (p.Glu561Lys) c.1519G>A (p.Glu507Lys) n.2194G>A c.1612G>A (p.Glu538Lys) n.2147G>A n.2169G>A | dbSNP gnomAD v4 |
16 | g.50712096G>C | CA395871247 | NOD2 | c.2104G>C (p.Glu702Gln) c.2185G>C (p.Glu729Gln) c.1681G>C (p.Glu561Gln) c.1519G>C (p.Glu507Gln) n.2194G>C c.1612G>C (p.Glu538Gln) n.2147G>C n.2169G>C | |
16 | g.50712096G= | CA2221862637 | NOD2 | c.2104G= (p.Glu702=) c.2185G= (p.Glu729=) c.1681G= (p.Glu561=) c.1519G= (p.Glu507=) n.2194G= c.1612G= (p.Glu538=) n.2147G= n.2169G= | |
16 | g.50712096G>T | CA395871249 | NOD2 | c.2104G>T (p.Glu702Ter) c.2185G>T (p.Glu729Ter) c.1681G>T (p.Glu561Ter) c.1519G>T (p.Glu507Ter) n.2194G>T c.1612G>T (p.Glu538Ter) n.2147G>T n.2169G>T | |
16 | g.50712097A>C | CA395871251 | NOD2 | c.2105A>C (p.Glu702Ala) c.2186A>C (p.Glu729Ala) c.1682A>C (p.Glu561Ala) c.1520A>C (p.Glu507Ala) n.2195A>C c.1613A>C (p.Glu538Ala) n.2148A>C n.2170A>C | |
16 | g.50712097A>G | CA395871253 | NOD2 | c.2105A>G (p.Glu702Gly) c.2186A>G (p.Glu729Gly) c.1682A>G (p.Glu561Gly) c.1520A>G (p.Glu507Gly) n.2195A>G c.1613A>G (p.Glu538Gly) n.2148A>G n.2170A>G | |
16 | g.50712097A>T | CA395871254 | NOD2 | c.2105A>T (p.Glu702Val) c.2186A>T (p.Glu729Val) c.1682A>T (p.Glu561Val) c.1520A>T (p.Glu507Val) n.2195A>T c.1613A>T (p.Glu538Val) n.2148A>T n.2170A>T | |
16 | g.50712098G>A | CA495779015 | NOD2 | c.2106G>A (p.Glu702=) c.2187G>A (p.Glu729=) c.1683G>A (p.Glu561=) c.1521G>A (p.Glu507=) n.2196G>A c.1614G>A (p.Glu538=) n.2149G>A n.2171G>A | ClinVar |
16 | g.50712098G>C | CA395871256 | NOD2 | c.2106G>C (p.Glu702Asp) c.2187G>C (p.Glu729Asp) c.1683G>C (p.Glu561Asp) c.1521G>C (p.Glu507Asp) n.2196G>C c.1614G>C (p.Glu538Asp) n.2149G>C n.2171G>C | |
16 | g.50712098G>T | CA395871258 | NOD2 | c.2106G>T (p.Glu702Asp) c.2187G>T (p.Glu729Asp) c.1683G>T (p.Glu561Asp) c.1521G>T (p.Glu507Asp) n.2196G>T c.1614G>T (p.Glu538Asp) n.2149G>T n.2171G>T | ClinVar gnomAD v4 |
16 | g.50712099G>A | CA395871260 | NOD2 | c.2107G>A (p.Ala703Thr) c.2188G>A (p.Ala730Thr) c.1684G>A (p.Ala562Thr) c.1522G>A (p.Ala508Thr) n.2197G>A c.1615G>A (p.Ala539Thr) n.2150G>A n.2172G>A | |
16 | g.50712099G>C | CA395871261 | NOD2 | c.2107G>C (p.Ala703Pro) c.2188G>C (p.Ala730Pro) c.1684G>C (p.Ala562Pro) c.1522G>C (p.Ala508Pro) n.2197G>C c.1615G>C (p.Ala539Pro) n.2150G>C n.2172G>C | |
16 | g.50712099G>T | CA395871263 | NOD2 | c.2107G>T (p.Ala703Ser) c.2188G>T (p.Ala730Ser) c.1684G>T (p.Ala562Ser) c.1522G>T (p.Ala508Ser) n.2197G>T c.1615G>T (p.Ala539Ser) n.2150G>T n.2172G>T | |
16 | g.50712100C>A | CA395871265 | NOD2 | c.2108C>A (p.Ala703Asp) c.2189C>A (p.Ala730Asp) c.1685C>A (p.Ala562Asp) c.1523C>A (p.Ala508Asp) n.2198C>A c.1616C>A (p.Ala539Asp) n.2151C>A n.2173C>A | |
16 | g.50712100C= | CA2221862639 | NOD2 | c.2108C= (p.Ala703=) c.2189C= (p.Ala730=) c.1685C= (p.Ala562=) c.1523C= (p.Ala508=) n.2198C= c.1616C= (p.Ala539=) n.2151C= n.2173C= | |
16 | g.50712100C>G | CA395871267 | NOD2 | c.2108C>G (p.Ala703Gly) c.2189C>G (p.Ala730Gly) c.1685C>G (p.Ala562Gly) c.1523C>G (p.Ala508Gly) n.2198C>G c.1616C>G (p.Ala539Gly) n.2151C>G n.2173C>G | |
16 | g.50712100C>T | CA8051717 | NOD2 | c.2108C>T (p.Ala703Val) c.2189C>T (p.Ala730Val) c.1685C>T (p.Ala562Val) c.1523C>T (p.Ala508Val) n.2198C>T c.1616C>T (p.Ala539Val) n.2151C>T n.2173C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712101C>A | CA495779016 | NOD2 | c.2109C>A (p.Ala703=) c.2190C>A (p.Ala730=) c.1686C>A (p.Ala562=) c.1524C>A (p.Ala508=) n.2199C>A c.1617C>A (p.Ala539=) n.2152C>A n.2174C>A | |
16 | g.50712101C>G | CA495779017 | NOD2 | c.2109C>G (p.Ala703=) c.2190C>G (p.Ala730=) c.1686C>G (p.Ala562=) c.1524C>G (p.Ala508=) n.2199C>G c.1617C>G (p.Ala539=) n.2152C>G n.2174C>G | |
16 | g.50712101C>T | CA495779018 | NOD2 | c.2109C>T (p.Ala703=) c.2190C>T (p.Ala730=) c.1686C>T (p.Ala562=) c.1524C>T (p.Ala508=) n.2199C>T c.1617C>T (p.Ala539=) n.2152C>T n.2174C>T | |
16 | g.50712102A>C | CA395871272 | NOD2 | c.2110A>C (p.Lys704Gln) c.2191A>C (p.Lys731Gln) c.1687A>C (p.Lys563Gln) c.1525A>C (p.Lys509Gln) n.2200A>C c.1618A>C (p.Lys540Gln) n.2153A>C n.2175A>C | |
16 | g.50712102A>G | CA395871274 | NOD2 | c.2110A>G (p.Lys704Glu) c.2191A>G (p.Lys731Glu) c.1687A>G (p.Lys563Glu) c.1525A>G (p.Lys509Glu) n.2200A>G c.1618A>G (p.Lys540Glu) n.2153A>G n.2175A>G | |
16 | g.50712102A>T | CA395871270 | NOD2 | c.2110A>T (p.Lys704Ter) c.2191A>T (p.Lys731Ter) c.1687A>T (p.Lys563Ter) c.1525A>T (p.Lys509Ter) n.2200A>T c.1618A>T (p.Lys540Ter) n.2153A>T n.2175A>T | |
16 | g.50712103A>C | CA395871276 | NOD2 | c.2111A>C (p.Lys704Thr) c.2192A>C (p.Lys731Thr) c.1688A>C (p.Lys563Thr) c.1526A>C (p.Lys509Thr) n.2201A>C c.1619A>C (p.Lys540Thr) n.2154A>C n.2176A>C | |
16 | g.50712103A>G | CA395871278 | NOD2 | c.2111A>G (p.Lys704Arg) c.2192A>G (p.Lys731Arg) c.1688A>G (p.Lys563Arg) c.1526A>G (p.Lys509Arg) n.2201A>G c.1619A>G (p.Lys540Arg) n.2154A>G n.2176A>G | COSMIC |
16 | g.50712103A>T | CA395871280 | NOD2 | c.2111A>T (p.Lys704Met) c.2192A>T (p.Lys731Met) c.1688A>T (p.Lys563Met) c.1526A>T (p.Lys509Met) n.2201A>T c.1619A>T (p.Lys540Met) n.2154A>T n.2176A>T | |
16 | g.50712104G>A | CA495779019 | NOD2 | c.2112G>A (p.Lys704=) c.2193G>A (p.Lys731=) c.1689G>A (p.Lys563=) c.1527G>A (p.Lys509=) n.2202G>A c.1620G>A (p.Lys540=) n.2155G>A n.2177G>A | ClinVar dbSNP |
16 | g.50712104G>C | CA395871283 | NOD2 | c.2112G>C (p.Lys704Asn) c.2193G>C (p.Lys731Asn) c.1689G>C (p.Lys563Asn) c.1527G>C (p.Lys509Asn) n.2202G>C c.1620G>C (p.Lys540Asn) n.2155G>C n.2177G>C | |
16 | g.50712104G>T | CA395871284 | NOD2 | c.2112G>T (p.Lys704Asn) c.2193G>T (p.Lys731Asn) c.1689G>T (p.Lys563Asn) c.1527G>T (p.Lys509Asn) n.2202G>T c.1620G>T (p.Lys540Asn) n.2155G>T n.2177G>T | |
16 | g.50712105A>C | CA395871290 | NOD2 | c.2113A>C (p.Ser705Arg) c.2194A>C (p.Ser732Arg) c.1690A>C (p.Ser564Arg) c.1528A>C (p.Ser510Arg) n.2203A>C c.1621A>C (p.Ser541Arg) n.2156A>C n.2178A>C | |
16 | g.50712105A>G | CA395871288 | NOD2 | c.2113A>G (p.Ser705Gly) c.2194A>G (p.Ser732Gly) c.1690A>G (p.Ser564Gly) c.1528A>G (p.Ser510Gly) n.2203A>G c.1621A>G (p.Ser541Gly) n.2156A>G n.2178A>G | gnomAD v4 |
16 | g.50712105A>T | CA395871286 | NOD2 | c.2113A>T (p.Ser705Cys) c.2194A>T (p.Ser732Cys) c.1690A>T (p.Ser564Cys) c.1528A>T (p.Ser510Cys) n.2203A>T c.1621A>T (p.Ser541Cys) n.2156A>T n.2178A>T | |
16 | g.50712106G>A | CA8051718 | NOD2 | c.2114G>A (p.Ser705Asn) c.2195G>A (p.Ser732Asn) c.1691G>A (p.Ser564Asn) c.1529G>A (p.Ser510Asn) n.2204G>A c.1622G>A (p.Ser541Asn) n.2157G>A n.2179G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712106G>C | CA395871293 | NOD2 | c.2114G>C (p.Ser705Thr) c.2195G>C (p.Ser732Thr) c.1691G>C (p.Ser564Thr) c.1529G>C (p.Ser510Thr) n.2204G>C c.1622G>C (p.Ser541Thr) n.2157G>C n.2179G>C | gnomAD v4 |
16 | g.50712106G= | CA2221862642 | NOD2 | c.2114G= (p.Ser705=) c.2195G= (p.Ser732=) c.1691G= (p.Ser564=) c.1529G= (p.Ser510=) n.2204G= c.1622G= (p.Ser541=) n.2157G= n.2179G= | |
16 | g.50712106G>T | CA395871295 | NOD2 | c.2114G>T (p.Ser705Ile) c.2195G>T (p.Ser732Ile) c.1691G>T (p.Ser564Ile) c.1529G>T (p.Ser510Ile) n.2204G>T c.1622G>T (p.Ser541Ile) n.2157G>T n.2179G>T | |
16 | g.50712107C>A | CA281264025 | NOD2 | c.2115C>A (p.Ser705Arg) c.2196C>A (p.Ser732Arg) c.1692C>A (p.Ser564Arg) c.1530C>A (p.Ser510Arg) n.2205C>A c.1623C>A (p.Ser541Arg) n.2158C>A n.2180C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.50712107C= | CA2221862646 | NOD2 | c.2115C= (p.Ser705=) c.2196C= (p.Ser732=) c.1692C= (p.Ser564=) c.1530C= (p.Ser510=) n.2205C= c.1623C= (p.Ser541=) n.2158C= n.2180C= | |
16 | g.50712107C>G | CA395871298 | NOD2 | c.2115C>G (p.Ser705Arg) c.2196C>G (p.Ser732Arg) c.1692C>G (p.Ser564Arg) c.1530C>G (p.Ser510Arg) n.2205C>G c.1623C>G (p.Ser541Arg) n.2158C>G n.2180C>G | |
16 | g.50712107C>T | CA8051719 | NOD2 | c.2115C>T (p.Ser705=) c.2196C>T (p.Ser732=) c.1692C>T (p.Ser564=) c.1530C>T (p.Ser510=) n.2205C>T c.1623C>T (p.Ser541=) n.2158C>T n.2180C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712108G>A | CA8051720 | NOD2 | c.2116G>A (p.Val706Met) c.2197G>A (p.Val733Met) c.1693G>A (p.Val565Met) c.1531G>A (p.Val511Met) n.2206G>A c.1624G>A (p.Val542Met) n.2159G>A n.2181G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.50712108G>C | CA395871303 | NOD2 | c.2116G>C (p.Val706Leu) c.2197G>C (p.Val733Leu) c.1693G>C (p.Val565Leu) c.1531G>C (p.Val511Leu) n.2206G>C c.1624G>C (p.Val542Leu) n.2159G>C n.2181G>C | |
16 | g.50712108G= | CA2221862651 | NOD2 | c.2116G= (p.Val706=) c.2197G= (p.Val733=) c.1693G= (p.Val565=) c.1531G= (p.Val511=) n.2206G= c.1624G= (p.Val542=) n.2159G= n.2181G= | |
16 | g.50712108G>T | CA10590111 | NOD2 | c.2116G>T (p.Val706Leu) c.2197G>T (p.Val733Leu) c.1693G>T (p.Val565Leu) c.1531G>T (p.Val511Leu) n.2206G>T c.1624G>T (p.Val542Leu) n.2159G>T n.2181G>T | ClinVar dbSNP |
16 | g.50712109T>A | CA395871304 | NOD2 | c.2117T>A (p.Val706Glu) c.2198T>A (p.Val733Glu) c.1694T>A (p.Val565Glu) c.1532T>A (p.Val511Glu) n.2207T>A c.1625T>A (p.Val542Glu) n.2160T>A n.2182T>A | |
16 | g.50712109T>C | CA395871305 | NOD2 | c.2117T>C (p.Val706Ala) c.2198T>C (p.Val733Ala) c.1694T>C (p.Val565Ala) c.1532T>C (p.Val511Ala) n.2207T>C c.1625T>C (p.Val542Ala) n.2160T>C n.2182T>C | gnomAD v4 |
16 | g.50712109T>G | CA395871307 | NOD2 | c.2117T>G (p.Val706Gly) c.2198T>G (p.Val733Gly) c.1694T>G (p.Val565Gly) c.1532T>G (p.Val511Gly) n.2207T>G c.1625T>G (p.Val542Gly) n.2160T>G n.2182T>G | |
16 | g.50712110G>A | CA495779022 | NOD2 | c.2118G>A (p.Val706=) c.2199G>A (p.Val733=) c.1695G>A (p.Val565=) c.1533G>A (p.Val511=) n.2208G>A c.1626G>A (p.Val542=) n.2161G>A n.2183G>A | |
16 | g.50712110G>C | CA495779021 | NOD2 | c.2118G>C (p.Val706=) c.2199G>C (p.Val733=) c.1695G>C (p.Val565=) c.1533G>C (p.Val511=) n.2208G>C c.1626G>C (p.Val542=) n.2161G>C n.2183G>C | |
16 | g.50712110G>T | CA495779020 | NOD2 | c.2118G>T (p.Val706=) c.2199G>T (p.Val733=) c.1695G>T (p.Val565=) c.1533G>T (p.Val511=) n.2208G>T c.1626G>T (p.Val542=) n.2161G>T n.2183G>T | |
16 | g.50712111C>A | CA395871308 | NOD2 | c.2119C>A (p.His707Asn) c.2200C>A (p.His734Asn) c.1696C>A (p.His566Asn) c.1534C>A (p.His512Asn) n.2209C>A c.1627C>A (p.His543Asn) n.2162C>A n.2184C>A | |
16 | g.50712111C>G | CA395871309 | NOD2 | c.2119C>G (p.His707Asp) c.2200C>G (p.His734Asp) c.1696C>G (p.His566Asp) c.1534C>G (p.His512Asp) n.2209C>G c.1627C>G (p.His543Asp) n.2162C>G n.2184C>G | |
16 | g.50712111C>T | CA395871311 | NOD2 | c.2119C>T (p.His707Tyr) c.2200C>T (p.His734Tyr) c.1696C>T (p.His566Tyr) c.1534C>T (p.His512Tyr) n.2209C>T c.1627C>T (p.His543Tyr) n.2162C>T n.2184C>T | ClinVar |
16 | g.50712112A= | CA2221862656 | NOD2 | c.2120A= (p.His707=) c.2201A= (p.His734=) c.1697A= (p.His566=) c.1535A= (p.His512=) n.2210A= c.1628A= (p.His543=) n.2163A= n.2185A= | |
16 | g.50712112A>C | CA8051721 | NOD2 | c.2120A>C (p.His707Pro) c.2201A>C (p.His734Pro) c.1697A>C (p.His566Pro) c.1535A>C (p.His512Pro) n.2210A>C c.1628A>C (p.His543Pro) n.2163A>C n.2185A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712112A>G | CA395871314 | NOD2 | c.2120A>G (p.His707Arg) c.2201A>G (p.His734Arg) c.1697A>G (p.His566Arg) c.1535A>G (p.His512Arg) n.2210A>G c.1628A>G (p.His543Arg) n.2163A>G n.2185A>G | |
16 | g.50712112A>T | CA395871316 | NOD2 | c.2120A>T (p.His707Leu) c.2201A>T (p.His734Leu) c.1697A>T (p.His566Leu) c.1535A>T (p.His512Leu) n.2210A>T c.1628A>T (p.His543Leu) n.2163A>T n.2185A>T | |
16 | g.50712113T>A | CA395871318 | NOD2 | c.2121T>A (p.His707Gln) c.2202T>A (p.His734Gln) c.1698T>A (p.His566Gln) c.1536T>A (p.His512Gln) n.2211T>A c.1629T>A (p.His543Gln) n.2164T>A n.2186T>A | |
16 | g.50712113T>C | CA495779023 | NOD2 | c.2121T>C (p.His707=) c.2202T>C (p.His734=) c.1698T>C (p.His566=) c.1536T>C (p.His512=) n.2211T>C c.1629T>C (p.His543=) n.2164T>C n.2186T>C | |
16 | g.50712113T>G | CA395871320 | NOD2 | c.2121T>G (p.His707Gln) c.2202T>G (p.His734Gln) c.1698T>G (p.His566Gln) c.1536T>G (p.His512Gln) n.2211T>G c.1629T>G (p.His543Gln) n.2164T>G n.2186T>G | |
16 | g.50712113dup | CA2633164665 | NOD2 | c.2121dup (p.Ala708CysfsTer?) c.2202dup (p.Ala735CysfsTer?) c.1698dup (p.Ala567CysfsTer?) c.1536dup (p.Ala513CysfsTer?) n.2211dup c.1629dup (p.Ala544CysfsTer?) n.2164dup n.2186dup | gnomAD v4 |
16 | g.50712113_50712114delinsTG | CA2221862659 | NOD2 | c.2121_2122delinsTG (p.His707=) c.2202_2203delinsTG (p.His734=) c.1698_1699delinsTG (p.His566=) c.1536_1537delinsTG (p.His512=) n.2211_2212delinsTG c.1629_1630delinsTG (p.His543=) n.2164_2165delinsTG n.2186_2187delinsTG | |
16 | g.50712114del | CA622654301 | NOD2 | c.2122del (p.Ala708ProfsTer28) c.2203del (p.Ala735ProfsTer28) c.1699del (p.Ala567ProfsTer28) c.1537del (p.Ala513ProfsTer28) n.2212del c.1630del (p.Ala544ProfsTer28) n.2165del n.2187del | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50712114G>A | CA395871322 | NOD2 | c.2122G>A (p.Ala708Thr) c.2203G>A (p.Ala735Thr) c.1699G>A (p.Ala567Thr) c.1537G>A (p.Ala513Thr) n.2212G>A c.1630G>A (p.Ala544Thr) n.2165G>A n.2187G>A | |
16 | g.50712114G>C | CA395871326 | NOD2 | c.2122G>C (p.Ala708Pro) c.2203G>C (p.Ala735Pro) c.1699G>C (p.Ala567Pro) c.1537G>C (p.Ala513Pro) n.2212G>C c.1630G>C (p.Ala544Pro) n.2165G>C n.2187G>C | |
16 | g.50712114G>T | CA395871324 | NOD2 | c.2122G>T (p.Ala708Ser) c.2203G>T (p.Ala735Ser) c.1699G>T (p.Ala567Ser) c.1537G>T (p.Ala513Ser) n.2212G>T c.1630G>T (p.Ala544Ser) n.2165G>T n.2187G>T | |
16 | g.50712115C>A | CA395871328 | NOD2 | c.2123C>A (p.Ala708Asp) c.2204C>A (p.Ala735Asp) c.1700C>A (p.Ala567Asp) c.1538C>A (p.Ala513Asp) n.2213C>A c.1631C>A (p.Ala544Asp) n.2166C>A n.2188C>A | |
16 | g.50712115C= | CA2221862663 | NOD2 | c.2123C= (p.Ala708=) c.2204C= (p.Ala735=) c.1700C= (p.Ala567=) c.1538C= (p.Ala513=) n.2213C= c.1631C= (p.Ala544=) n.2166C= n.2188C= | |
16 | g.50712115C>G | CA395871331 | NOD2 | c.2123C>G (p.Ala708Gly) c.2204C>G (p.Ala735Gly) c.1700C>G (p.Ala567Gly) c.1538C>G (p.Ala513Gly) n.2213C>G c.1631C>G (p.Ala544Gly) n.2166C>G n.2188C>G | |
16 | g.50712115C>T | CA8051722 | NOD2 | c.2123C>T (p.Ala708Val) c.2204C>T (p.Ala735Val) c.1700C>T (p.Ala567Val) c.1538C>T (p.Ala513Val) n.2213C>T c.1631C>T (p.Ala544Val) n.2166C>T n.2188C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50712116C>A | CA495779026 | NOD2 | c.2124C>A (p.Ala708=) c.2205C>A (p.Ala735=) c.1701C>A (p.Ala567=) c.1539C>A (p.Ala513=) n.2214C>A c.1632C>A (p.Ala544=) n.2167C>A n.2189C>A | |
16 | g.50712116C>G | CA495779024 | NOD2 | c.2124C>G (p.Ala708=) c.2205C>G (p.Ala735=) c.1701C>G (p.Ala567=) c.1539C>G (p.Ala513=) n.2214C>G c.1632C>G (p.Ala544=) n.2167C>G n.2189C>G | |
16 | g.50712116C>T | CA495779025 | NOD2 | c.2124C>T (p.Ala708=) c.2205C>T (p.Ala735=) c.1701C>T (p.Ala567=) c.1539C>T (p.Ala513=) n.2214C>T c.1632C>T (p.Ala544=) n.2167C>T n.2189C>T | |
16 | g.50712117A>C | CA395871333 | NOD2 | c.2125A>C (p.Met709Leu) c.2206A>C (p.Met736Leu) c.1702A>C (p.Met568Leu) c.1540A>C (p.Met514Leu) n.2215A>C c.1633A>C (p.Met545Leu) n.2168A>C n.2190A>C | |
16 | g.50712117A>G | CA395871335 | NOD2 | c.2125A>G (p.Met709Val) c.2206A>G (p.Met736Val) c.1702A>G (p.Met568Val) c.1540A>G (p.Met514Val) n.2215A>G c.1633A>G (p.Met545Val) n.2168A>G n.2190A>G | |
16 | g.50712117A>T | CA395871337 | NOD2 | c.2125A>T (p.Met709Leu) c.2206A>T (p.Met736Leu) c.1702A>T (p.Met568Leu) c.1540A>T (p.Met514Leu) n.2215A>T c.1633A>T (p.Met545Leu) n.2168A>T n.2190A>T | |
16 | g.50712118T>A | CA395871339 | NOD2 | c.2126T>A (p.Met709Lys) c.2207T>A (p.Met736Lys) c.1703T>A (p.Met568Lys) c.1541T>A (p.Met514Lys) n.2216T>A c.1634T>A (p.Met545Lys) n.2169T>A n.2191T>A | |
16 | g.50712118T>C | CA395871341 | NOD2 | c.2126T>C (p.Met709Thr) c.2207T>C (p.Met736Thr) c.1703T>C (p.Met568Thr) c.1541T>C (p.Met514Thr) n.2216T>C c.1634T>C (p.Met545Thr) n.2169T>C n.2191T>C | |
16 | g.50712118T>G | CA395871343 | NOD2 | c.2126T>G (p.Met709Arg) c.2207T>G (p.Met736Arg) c.1703T>G (p.Met568Arg) c.1541T>G (p.Met514Arg) n.2216T>G c.1634T>G (p.Met545Arg) n.2169T>G n.2191T>G | |
16 | g.50712119G>A | CA395871345 | NOD2 | c.2127G>A (p.Met709Ile) c.2208G>A (p.Met736Ile) c.1704G>A (p.Met568Ile) c.1542G>A (p.Met514Ile) n.2217G>A c.1635G>A (p.Met545Ile) n.2170G>A n.2192G>A | |
16 | g.50712119G>C | CA395871346 | NOD2 | c.2127G>C (p.Met709Ile) c.2208G>C (p.Met736Ile) c.1704G>C (p.Met568Ile) c.1542G>C (p.Met514Ile) n.2217G>C c.1635G>C (p.Met545Ile) n.2170G>C n.2192G>C | |
16 | g.50712119G= | CA2221862667 | NOD2 | c.2127G= (p.Met709=) c.2208G= (p.Met736=) c.1704G= (p.Met568=) c.1542G= (p.Met514=) n.2217G= c.1635G= (p.Met545=) n.2170G= n.2192G= | |
16 | g.50712119G>T | CA395871349 | NOD2 | c.2127G>T (p.Met709Ile) c.2208G>T (p.Met736Ile) c.1704G>T (p.Met568Ile) c.1542G>T (p.Met514Ile) n.2217G>T c.1635G>T (p.Met545Ile) n.2170G>T n.2192G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50712119dup | CA2839357674 | NOD2 | c.2127dup (p.Pro710AlafsTer?) c.2208dup (p.Pro737AlafsTer?) c.1704dup (p.Pro569AlafsTer?) c.1542dup (p.Pro515AlafsTer?) n.2217dup c.1635dup (p.Pro546AlafsTer?) n.2170dup n.2192dup | |
16 | g.50712120C>A | CA395871351 | NOD2 | c.2128C>A (p.Pro710Thr) c.2209C>A (p.Pro737Thr) c.1705C>A (p.Pro569Thr) c.1543C>A (p.Pro515Thr) n.2218C>A c.1636C>A (p.Pro546Thr) n.2171C>A n.2193C>A | |
16 | g.50712120C= | CA2221862668 | NOD2 | c.2128C= (p.Pro710=) c.2209C= (p.Pro737=) c.1705C= (p.Pro569=) c.1543C= (p.Pro515=) n.2218C= c.1636C= (p.Pro546=) n.2171C= n.2193C= | |
16 | g.50712120C>G | CA395871353 | NOD2 | c.2128C>G (p.Pro710Ala) c.2209C>G (p.Pro737Ala) c.1705C>G (p.Pro569Ala) c.1543C>G (p.Pro515Ala) n.2218C>G c.1636C>G (p.Pro546Ala) n.2171C>G n.2193C>G | |
16 | g.50712120C>T | CA395871355 | NOD2 | c.2128C>T (p.Pro710Ser) c.2209C>T (p.Pro737Ser) c.1705C>T (p.Pro569Ser) c.1543C>T (p.Pro515Ser) n.2218C>T c.1636C>T (p.Pro546Ser) n.2171C>T n.2193C>T | dbSNP |
16 | g.50712121C>A | CA395871358 | NOD2 | c.2129C>A (p.Pro710His) c.2210C>A (p.Pro737His) c.1706C>A (p.Pro569His) c.1544C>A (p.Pro515His) n.2219C>A c.1637C>A (p.Pro546His) n.2172C>A n.2194C>A | |
16 | g.50712121C= | CA2221862671 | NOD2 | c.2129C= (p.Pro710=) c.2210C= (p.Pro737=) c.1706C= (p.Pro569=) c.1544C= (p.Pro515=) n.2219C= c.1637C= (p.Pro546=) n.2172C= n.2194C= | |
16 | g.50712121C>G | CA395871356 | NOD2 | c.2129C>G (p.Pro710Arg) c.2210C>G (p.Pro737Arg) c.1706C>G (p.Pro569Arg) c.1544C>G (p.Pro515Arg) n.2219C>G c.1637C>G (p.Pro546Arg) n.2172C>G n.2194C>G | |
16 | g.50712121C>T | CA8051723 | NOD2 | c.2129C>T (p.Pro710Leu) c.2210C>T (p.Pro737Leu) c.1706C>T (p.Pro569Leu) c.1544C>T (p.Pro515Leu) n.2219C>T c.1637C>T (p.Pro546Leu) n.2172C>T n.2194C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50712122C>A | CA495779028 | NOD2 | c.2130C>A (p.Pro710=) c.2211C>A (p.Pro737=) c.1707C>A (p.Pro569=) c.1545C>A (p.Pro515=) n.2220C>A c.1638C>A (p.Pro546=) n.2173C>A n.2195C>A | dbSNP |
16 | g.50712122C= | CA2221862675 | NOD2 | c.2130C= (p.Pro710=) c.2211C= (p.Pro737=) c.1707C= (p.Pro569=) c.1545C= (p.Pro515=) n.2220C= c.1638C= (p.Pro546=) n.2173C= n.2195C= | |
16 | g.50712122C>G | CA495779027 | NOD2 | c.2130C>G (p.Pro710=) c.2211C>G (p.Pro737=) c.1707C>G (p.Pro569=) c.1545C>G (p.Pro515=) n.2220C>G c.1638C>G (p.Pro546=) n.2173C>G n.2195C>G | |
16 | g.50712122C>T | CA8051724 | NOD2 | c.2130C>T (p.Pro710=) c.2211C>T (p.Pro737=) c.1707C>T (p.Pro569=) c.1545C>T (p.Pro515=) n.2220C>T c.1638C>T (p.Pro546=) n.2173C>T n.2195C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712123G>A | CA395871360 | NOD2 | c.2131G>A (p.Gly711Arg) c.2212G>A (p.Gly738Arg) c.1708G>A (p.Gly570Arg) c.1546G>A (p.Gly516Arg) n.2221G>A c.1639G>A (p.Gly547Arg) n.2174G>A n.2196G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712123G>C | CA395871362 | NOD2 | c.2131G>C (p.Gly711Arg) c.2212G>C (p.Gly738Arg) c.1708G>C (p.Gly570Arg) c.1546G>C (p.Gly516Arg) n.2221G>C c.1639G>C (p.Gly547Arg) n.2174G>C n.2196G>C | |
16 | g.50712123G= | CA2221862679 | NOD2 | c.2131G= (p.Gly711=) c.2212G= (p.Gly738=) c.1708G= (p.Gly570=) c.1546G= (p.Gly516=) n.2221G= c.1639G= (p.Gly547=) n.2174G= n.2196G= | |
16 | g.50712123G>T | CA395871364 | NOD2 | c.2131G>T (p.Gly711Trp) c.2212G>T (p.Gly738Trp) c.1708G>T (p.Gly570Trp) c.1546G>T (p.Gly516Trp) n.2221G>T c.1639G>T (p.Gly547Trp) n.2174G>T n.2196G>T | |
16 | g.50712124G>A | CA395871366 | NOD2 | c.2132G>A (p.Gly711Glu) c.2213G>A (p.Gly738Glu) c.1709G>A (p.Gly570Glu) c.1547G>A (p.Gly516Glu) n.2222G>A c.1640G>A (p.Gly547Glu) n.2175G>A n.2197G>A | gnomAD v4 |
16 | g.50712124G>C | CA395871368 | NOD2 | c.2132G>C (p.Gly711Ala) c.2213G>C (p.Gly738Ala) c.1709G>C (p.Gly570Ala) c.1547G>C (p.Gly516Ala) n.2222G>C c.1640G>C (p.Gly547Ala) n.2175G>C n.2197G>C | |
16 | g.50712124G>T | CA395871370 | NOD2 | c.2132G>T (p.Gly711Val) c.2213G>T (p.Gly738Val) c.1709G>T (p.Gly570Val) c.1547G>T (p.Gly516Val) n.2222G>T c.1640G>T (p.Gly547Val) n.2175G>T n.2197G>T | |
16 | g.50712125G>A | CA495779030 | NOD2 | c.2133G>A (p.Gly711=) c.2214G>A (p.Gly738=) c.1710G>A (p.Gly570=) c.1548G>A (p.Gly516=) n.2223G>A c.1641G>A (p.Gly547=) n.2176G>A n.2198G>A | dbSNP |
16 | g.50712125G>C | CA8051725 | NOD2 | c.2133G>C (p.Gly711=) c.2214G>C (p.Gly738=) c.1710G>C (p.Gly570=) c.1548G>C (p.Gly516=) n.2223G>C c.1641G>C (p.Gly547=) n.2176G>C n.2198G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712125G= | CA2221862684 | NOD2 | c.2133G= (p.Gly711=) c.2214G= (p.Gly738=) c.1710G= (p.Gly570=) c.1548G= (p.Gly516=) n.2223G= c.1641G= (p.Gly547=) n.2176G= n.2198G= | |
16 | g.50712125G>T | CA495779032 | NOD2 | c.2133G>T (p.Gly711=) c.2214G>T (p.Gly738=) c.1710G>T (p.Gly570=) c.1548G>T (p.Gly516=) n.2223G>T c.1641G>T (p.Gly547=) n.2176G>T n.2198G>T | |
16 | g.50712126T>A | CA395871373 | NOD2 | c.2134T>A (p.Phe712Ile) c.2215T>A (p.Phe739Ile) c.1711T>A (p.Phe571Ile) c.1549T>A (p.Phe517Ile) n.2224T>A c.1642T>A (p.Phe548Ile) n.2177T>A n.2199T>A | |
16 | g.50712126T>C | CA395871375 | NOD2 | c.2134T>C (p.Phe712Leu) c.2215T>C (p.Phe739Leu) c.1711T>C (p.Phe571Leu) c.1549T>C (p.Phe517Leu) n.2224T>C c.1642T>C (p.Phe548Leu) n.2177T>C n.2199T>C | gnomAD v4 |
16 | g.50712126T>G | CA395871376 | NOD2 | c.2134T>G (p.Phe712Val) c.2215T>G (p.Phe739Val) c.1711T>G (p.Phe571Val) c.1549T>G (p.Phe517Val) n.2224T>G c.1642T>G (p.Phe548Val) n.2177T>G n.2199T>G | |
16 | g.50712127T>A | CA395871381 | NOD2 | c.2135T>A (p.Phe712Tyr) c.2216T>A (p.Phe739Tyr) c.1712T>A (p.Phe571Tyr) c.1550T>A (p.Phe517Tyr) n.2225T>A c.1643T>A (p.Phe548Tyr) n.2178T>A n.2200T>A | dbSNP |
16 | g.50712127T>C | CA395871379 | NOD2 | c.2135T>C (p.Phe712Ser) c.2216T>C (p.Phe739Ser) c.1712T>C (p.Phe571Ser) c.1550T>C (p.Phe517Ser) n.2225T>C c.1643T>C (p.Phe548Ser) n.2178T>C n.2200T>C | dbSNP gnomAD v2 |
16 | g.50712127T>G | CA395871377 | NOD2 | c.2135T>G (p.Phe712Cys) c.2216T>G (p.Phe739Cys) c.1712T>G (p.Phe571Cys) c.1550T>G (p.Phe517Cys) n.2225T>G c.1643T>G (p.Phe548Cys) n.2178T>G n.2200T>G | |
16 | g.50712127T= | CA2221862687 | NOD2 | c.2135T= (p.Phe712=) c.2216T= (p.Phe739=) c.1712T= (p.Phe571=) c.1550T= (p.Phe517=) n.2225T= c.1643T= (p.Phe548=) n.2178T= n.2200T= | |
16 | g.50712128C>A | CA395871383 | NOD2 | c.2136C>A (p.Phe712Leu) c.2217C>A (p.Phe739Leu) c.1713C>A (p.Phe571Leu) c.1551C>A (p.Phe517Leu) n.2226C>A c.1644C>A (p.Phe548Leu) n.2179C>A n.2201C>A | |
16 | g.50712128C= | CA2221862689 | NOD2 | c.2136C= (p.Phe712=) c.2217C= (p.Phe739=) c.1713C= (p.Phe571=) c.1551C= (p.Phe517=) n.2226C= c.1644C= (p.Phe548=) n.2179C= n.2201C= | |
16 | g.50712128C>G | CA395871385 | NOD2 | c.2136C>G (p.Phe712Leu) c.2217C>G (p.Phe739Leu) c.1713C>G (p.Phe571Leu) c.1551C>G (p.Phe517Leu) n.2226C>G c.1644C>G (p.Phe548Leu) n.2179C>G n.2201C>G | |
16 | g.50712128C>T | CA281264087 | NOD2 | c.2136C>T (p.Phe712=) c.2217C>T (p.Phe739=) c.1713C>T (p.Phe571=) c.1551C>T (p.Phe517=) n.2226C>T c.1644C>T (p.Phe548=) n.2179C>T n.2201C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.50712129A= | CA2221862693 | NOD2 | c.2137A= (p.Ile713=) c.2218A= (p.Ile740=) c.1714A= (p.Ile572=) c.1552A= (p.Ile518=) n.2227A= c.1645A= (p.Ile549=) n.2180A= n.2202A= | |
16 | g.50712129A>C | CA8051727 | NOD2 | c.2137A>C (p.Ile713Leu) c.2218A>C (p.Ile740Leu) c.1714A>C (p.Ile572Leu) c.1552A>C (p.Ile518Leu) n.2227A>C c.1645A>C (p.Ile549Leu) n.2180A>C n.2202A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712129A>G | CA281264092 | NOD2 | c.2137A>G (p.Ile713Val) c.2218A>G (p.Ile740Val) c.1714A>G (p.Ile572Val) c.1552A>G (p.Ile518Val) n.2227A>G c.1645A>G (p.Ile549Val) n.2180A>G n.2202A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.50712129A>T | CA8051726 | NOD2 | c.2137A>T (p.Ile713Phe) c.2218A>T (p.Ile740Phe) c.1714A>T (p.Ile572Phe) c.1552A>T (p.Ile518Phe) n.2227A>T c.1645A>T (p.Ile549Phe) n.2180A>T n.2202A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50712130T>A | CA395871393 | NOD2 | c.2138T>A (p.Ile713Asn) c.2219T>A (p.Ile740Asn) c.1715T>A (p.Ile572Asn) c.1553T>A (p.Ile518Asn) n.2228T>A c.1646T>A (p.Ile549Asn) n.2181T>A n.2203T>A | |
16 | g.50712130T>C | CA8051728 | NOD2 | c.2138T>C (p.Ile713Thr) c.2219T>C (p.Ile740Thr) c.1715T>C (p.Ile572Thr) c.1553T>C (p.Ile518Thr) n.2228T>C c.1646T>C (p.Ile549Thr) n.2181T>C n.2203T>C | dbSNP ExAC gnomAD v2 |
16 | g.50712130T>G | CA395871390 | NOD2 | c.2138T>G (p.Ile713Ser) c.2219T>G (p.Ile740Ser) c.1715T>G (p.Ile572Ser) c.1553T>G (p.Ile518Ser) n.2228T>G c.1646T>G (p.Ile549Ser) n.2181T>G n.2203T>G | |
16 | g.50712130T= | CA2221862698 | NOD2 | c.2138T= (p.Ile713=) c.2219T= (p.Ile740=) c.1715T= (p.Ile572=) c.1553T= (p.Ile518=) n.2228T= c.1646T= (p.Ile549=) n.2181T= n.2203T= | |
16 | g.50712131C>A | CA281264119 | NOD2 | c.2139C>A (p.Ile713=) c.2220C>A (p.Ile740=) c.1716C>A (p.Ile572=) c.1554C>A (p.Ile518=) n.2229C>A c.1647C>A (p.Ile549=) n.2182C>A n.2204C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712131C= | CA2221862704 | NOD2 | c.2139C= (p.Ile713=) c.2220C= (p.Ile740=) c.1716C= (p.Ile572=) c.1554C= (p.Ile518=) n.2229C= c.1647C= (p.Ile549=) n.2182C= n.2204C= | |
16 | g.50712131C>G | CA395871397 | NOD2 | c.2139C>G (p.Ile713Met) c.2220C>G (p.Ile740Met) c.1716C>G (p.Ile572Met) c.1554C>G (p.Ile518Met) n.2229C>G c.1647C>G (p.Ile549Met) n.2182C>G n.2204C>G | |
16 | g.50712131C>T | CA150250 | NOD2 | c.2139C>T (p.Ile713=) c.2220C>T (p.Ile740=) c.1716C>T (p.Ile572=) c.1554C>T (p.Ile518=) n.2229C>T c.1647C>T (p.Ile549=) n.2182C>T n.2204C>T | ClinVar dbSNP |
16 | g.50712132del | CA2633164706 | NOD2 | c.2140del (p.Trp714GlyfsTer22) c.2221del (p.Trp741GlyfsTer22) c.1717del (p.Trp573GlyfsTer22) c.1555del (p.Trp519GlyfsTer22) n.2230del c.1648del (p.Trp550GlyfsTer22) n.2183del n.2205del | gnomAD v4 |
16 | g.50712132T>A | CA395871400 | NOD2 | c.2140T>A (p.Trp714Arg) c.2221T>A (p.Trp741Arg) c.1717T>A (p.Trp573Arg) c.1555T>A (p.Trp519Arg) n.2230T>A c.1648T>A (p.Trp550Arg) n.2183T>A n.2205T>A | |
16 | g.50712132T>C | CA395871402 | NOD2 | c.2140T>C (p.Trp714Arg) c.2221T>C (p.Trp741Arg) c.1717T>C (p.Trp573Arg) c.1555T>C (p.Trp519Arg) n.2230T>C c.1648T>C (p.Trp550Arg) n.2183T>C n.2205T>C | |
16 | g.50712132T>G | CA395871404 | NOD2 | c.2140T>G (p.Trp714Gly) c.2221T>G (p.Trp741Gly) c.1717T>G (p.Trp573Gly) c.1555T>G (p.Trp519Gly) n.2230T>G c.1648T>G (p.Trp550Gly) n.2183T>G n.2205T>G | |
16 | g.50712133G>A | CA8051729 | NOD2 | c.2141G>A (p.Trp714Ter) c.2222G>A (p.Trp741Ter) c.1718G>A (p.Trp573Ter) c.1556G>A (p.Trp519Ter) n.2231G>A c.1649G>A (p.Trp550Ter) n.2184G>A n.2206G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50712133G>C | CA395871409 | NOD2 | c.2141G>C (p.Trp714Ser) c.2222G>C (p.Trp741Ser) c.1718G>C (p.Trp573Ser) c.1556G>C (p.Trp519Ser) n.2231G>C c.1649G>C (p.Trp550Ser) n.2184G>C n.2206G>C | |
16 | g.50712133G= | CA2221862707 | NOD2 | c.2141G= (p.Trp714=) c.2222G= (p.Trp741=) c.1718G= (p.Trp573=) c.1556G= (p.Trp519=) n.2231G= c.1649G= (p.Trp550=) n.2184G= n.2206G= | |
16 | g.50712133G>T | CA395871407 | NOD2 | c.2141G>T (p.Trp714Leu) c.2222G>T (p.Trp741Leu) c.1718G>T (p.Trp573Leu) c.1556G>T (p.Trp519Leu) n.2231G>T c.1649G>T (p.Trp550Leu) n.2184G>T n.2206G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712134G>A | CA395871410 | NOD2 | c.2142G>A (p.Trp714Ter) c.2223G>A (p.Trp741Ter) c.1719G>A (p.Trp573Ter) c.1557G>A (p.Trp519Ter) n.2232G>A c.1650G>A (p.Trp550Ter) n.2185G>A n.2207G>A | |
16 | g.50712134G>C | CA395871412 | NOD2 | c.2142G>C (p.Trp714Cys) c.2223G>C (p.Trp741Cys) c.1719G>C (p.Trp573Cys) c.1557G>C (p.Trp519Cys) n.2232G>C c.1650G>C (p.Trp550Cys) n.2185G>C n.2207G>C | dbSNP |
16 | g.50712134G= | CA2221862712 | NOD2 | c.2142G= (p.Trp714=) c.2223G= (p.Trp741=) c.1719G= (p.Trp573=) c.1557G= (p.Trp519=) n.2232G= c.1650G= (p.Trp550=) n.2185G= n.2207G= | |
16 | g.50712134G>T | CA395871414 | NOD2 | c.2142G>T (p.Trp714Cys) c.2223G>T (p.Trp741Cys) c.1719G>T (p.Trp573Cys) c.1557G>T (p.Trp519Cys) n.2232G>T c.1650G>T (p.Trp550Cys) n.2185G>T n.2207G>T | |
16 | g.50712135C>A | CA395871415 | NOD2 | c.2143C>A (p.Leu715Ile) c.2224C>A (p.Leu742Ile) c.1720C>A (p.Leu574Ile) c.1558C>A (p.Leu520Ile) n.2233C>A c.1651C>A (p.Leu551Ile) n.2186C>A n.2208C>A | |
16 | g.50712135C>G | CA395871417 | NOD2 | c.2143C>G (p.Leu715Val) c.2224C>G (p.Leu742Val) c.1720C>G (p.Leu574Val) c.1558C>G (p.Leu520Val) n.2233C>G c.1651C>G (p.Leu551Val) n.2186C>G n.2208C>G | |
16 | g.50712135C>T | CA395871419 | NOD2 | c.2143C>T (p.Leu715Phe) c.2224C>T (p.Leu742Phe) c.1720C>T (p.Leu574Phe) c.1558C>T (p.Leu520Phe) n.2233C>T c.1651C>T (p.Leu551Phe) n.2186C>T n.2208C>T | |
16 | g.50712136T>A | CA395871421 | NOD2 | c.2144T>A (p.Leu715His) c.2225T>A (p.Leu742His) c.1721T>A (p.Leu574His) c.1559T>A (p.Leu520His) n.2234T>A c.1652T>A (p.Leu551His) n.2187T>A n.2209T>A | |
16 | g.50712136T>C | CA395871423 | NOD2 | c.2144T>C (p.Leu715Pro) c.2225T>C (p.Leu742Pro) c.1721T>C (p.Leu574Pro) c.1559T>C (p.Leu520Pro) n.2234T>C c.1652T>C (p.Leu551Pro) n.2187T>C n.2209T>C | |
16 | g.50712136T>G | CA395871425 | NOD2 | c.2144T>G (p.Leu715Arg) c.2225T>G (p.Leu742Arg) c.1721T>G (p.Leu574Arg) c.1559T>G (p.Leu520Arg) n.2234T>G c.1652T>G (p.Leu551Arg) n.2187T>G n.2209T>G | |
16 | g.50712137C>A | CA8051731 | NOD2 | c.2145C>A (p.Leu715=) c.2226C>A (p.Leu742=) c.1722C>A (p.Leu574=) c.1560C>A (p.Leu520=) n.2235C>A c.1653C>A (p.Leu551=) n.2188C>A n.2210C>A | dbSNP ExAC gnomAD v2 |
16 | g.50712137C= | CA2221862715 | NOD2 | c.2145C= (p.Leu715=) c.2226C= (p.Leu742=) c.1722C= (p.Leu574=) c.1560C= (p.Leu520=) n.2235C= c.1653C= (p.Leu551=) n.2188C= n.2210C= | |
16 | g.50712137C>G | CA495779033 | NOD2 | c.2145C>G (p.Leu715=) c.2226C>G (p.Leu742=) c.1722C>G (p.Leu574=) c.1560C>G (p.Leu520=) n.2235C>G c.1653C>G (p.Leu551=) n.2188C>G n.2210C>G | |
16 | g.50712137C>T | CA8051730 | NOD2 | c.2145C>T (p.Leu715=) c.2226C>T (p.Leu742=) c.1722C>T (p.Leu574=) c.1560C>T (p.Leu520=) n.2235C>T c.1653C>T (p.Leu551=) n.2188C>T n.2210C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50712138A= | CA2221862718 | NOD2 | c.2146A= (p.Ile716=) c.2227A= (p.Ile743=) c.1723A= (p.Ile575=) c.1561A= (p.Ile521=) n.2236A= c.1654A= (p.Ile552=) n.2189A= n.2211A= | |
16 | g.50712138A>C | CA395871431 | NOD2 | c.2146A>C (p.Ile716Leu) c.2227A>C (p.Ile743Leu) c.1723A>C (p.Ile575Leu) c.1561A>C (p.Ile521Leu) n.2236A>C c.1654A>C (p.Ile552Leu) n.2189A>C n.2211A>C | |
16 | g.50712138A>G | CA395871432 | NOD2 | c.2146A>G (p.Ile716Val) c.2227A>G (p.Ile743Val) c.1723A>G (p.Ile575Val) c.1561A>G (p.Ile521Val) n.2236A>G c.1654A>G (p.Ile552Val) n.2189A>G n.2211A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50712138A>T | CA395871429 | NOD2 | c.2146A>T (p.Ile716Phe) c.2227A>T (p.Ile743Phe) c.1723A>T (p.Ile575Phe) c.1561A>T (p.Ile521Phe) n.2236A>T c.1654A>T (p.Ile552Phe) n.2189A>T n.2211A>T | |
16 | g.50712139T>A | CA395871435 | NOD2 | c.2147T>A (p.Ile716Asn) c.2228T>A (p.Ile743Asn) c.1724T>A (p.Ile575Asn) c.1562T>A (p.Ile521Asn) n.2237T>A c.1655T>A (p.Ile552Asn) n.2190T>A n.2212T>A | |
16 | g.50712139T>C | CA395871434 | NOD2 | c.2147T>C (p.Ile716Thr) c.2228T>C (p.Ile743Thr) c.1724T>C (p.Ile575Thr) c.1562T>C (p.Ile521Thr) n.2237T>C c.1655T>C (p.Ile552Thr) n.2190T>C n.2212T>C | |
16 | g.50712139T>G | CA395871436 | NOD2 | c.2147T>G (p.Ile716Ser) c.2228T>G (p.Ile743Ser) c.1724T>G (p.Ile575Ser) c.1562T>G (p.Ile521Ser) n.2237T>G c.1655T>G (p.Ile552Ser) n.2190T>G n.2212T>G | |
16 | g.50712140C>A | CA495779034 | NOD2 | c.2148C>A (p.Ile716=) c.2229C>A (p.Ile743=) c.1725C>A (p.Ile575=) c.1563C>A (p.Ile521=) n.2238C>A c.1656C>A (p.Ile552=) n.2191C>A n.2213C>A | |
16 | g.50712140C= | CA2221862720 | NOD2 | c.2148C= (p.Ile716=) c.2229C= (p.Ile743=) c.1725C= (p.Ile575=) c.1563C= (p.Ile521=) n.2238C= c.1656C= (p.Ile552=) n.2191C= n.2213C= | |
16 | g.50712140C>G | CA281264153 | NOD2 | c.2148C>G (p.Ile716Met) c.2229C>G (p.Ile743Met) c.1725C>G (p.Ile575Met) c.1563C>G (p.Ile521Met) n.2238C>G c.1656C>G (p.Ile552Met) n.2191C>G n.2213C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50712140C>T | CA495779035 | NOD2 | c.2148C>T (p.Ile716=) c.2229C>T (p.Ile743=) c.1725C>T (p.Ile575=) c.1563C>T (p.Ile521=) n.2238C>T c.1656C>T (p.Ile552=) n.2191C>T n.2213C>T | |
16 | g.50712141C>A | CA495779036 | NOD2 | c.2149C>A (p.Arg717=) c.2230C>A (p.Arg744=) c.1726C>A (p.Arg576=) c.1564C>A (p.Arg522=) n.2239C>A c.1657C>A (p.Arg553=) n.2192C>A n.2214C>A | |
16 | g.50712141C= | CA2221862725 | NOD2 | c.2149C= (p.Arg717=) c.2230C= (p.Arg744=) c.1726C= (p.Arg576=) c.1564C= (p.Arg522=) n.2239C= c.1657C= (p.Arg553=) n.2192C= n.2214C= | |
16 | g.50712141C>G | CA395871441 | NOD2 | c.2149C>G (p.Arg717Gly) c.2230C>G (p.Arg744Gly) c.1726C>G (p.Arg576Gly) c.1564C>G (p.Arg522Gly) n.2239C>G c.1657C>G (p.Arg553Gly) n.2192C>G n.2214C>G | dbSNP |
16 | g.50712141C>T | CA8051732 | NOD2 | c.2149C>T (p.Arg717Trp) c.2230C>T (p.Arg744Trp) c.1726C>T (p.Arg576Trp) c.1564C>T (p.Arg522Trp) n.2239C>T c.1657C>T (p.Arg553Trp) n.2192C>T n.2214C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712142G>A | CA8051733 | NOD2 | c.2150G>A (p.Arg717Gln) c.2231G>A (p.Arg744Gln) c.1727G>A (p.Arg576Gln) c.1565G>A (p.Arg522Gln) n.2240G>A c.1658G>A (p.Arg553Gln) n.2193G>A n.2215G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50712142G>C | CA395871443 | NOD2 | c.2150G>C (p.Arg717Pro) c.2231G>C (p.Arg744Pro) c.1727G>C (p.Arg576Pro) c.1565G>C (p.Arg522Pro) n.2240G>C c.1658G>C (p.Arg553Pro) n.2193G>C n.2215G>C | |
16 | g.50712142G= | CA2221862728 | NOD2 | c.2150G= (p.Arg717=) c.2231G= (p.Arg744=) c.1727G= (p.Arg576=) c.1565G= (p.Arg522=) n.2240G= c.1658G= (p.Arg553=) n.2193G= n.2215G= | |
16 | g.50712142G>T | CA395871446 | NOD2 | c.2150G>T (p.Arg717Leu) c.2231G>T (p.Arg744Leu) c.1727G>T (p.Arg576Leu) c.1565G>T (p.Arg522Leu) n.2240G>T c.1658G>T (p.Arg553Leu) n.2193G>T n.2215G>T | |
16 | g.50712143G>A | CA495779037 | NOD2 | c.2151G>A (p.Arg717=) c.2232G>A (p.Arg744=) c.1728G>A (p.Arg576=) c.1566G>A (p.Arg522=) n.2241G>A c.1659G>A (p.Arg553=) n.2194G>A n.2216G>A | |
16 | g.50712143G>C | CA495779039 | NOD2 | c.2151G>C (p.Arg717=) c.2232G>C (p.Arg744=) c.1728G>C (p.Arg576=) c.1566G>C (p.Arg522=) n.2241G>C c.1659G>C (p.Arg553=) n.2194G>C n.2216G>C | |
16 | g.50712143G>T | CA495779038 | NOD2 | c.2151G>T (p.Arg717=) c.2232G>T (p.Arg744=) c.1728G>T (p.Arg576=) c.1566G>T (p.Arg522=) n.2241G>T c.1659G>T (p.Arg553=) n.2194G>T n.2216G>T | gnomAD v4 |
16 | g.50712144A>C | CA395871448 | NOD2 | c.2152A>C (p.Ser718Arg) c.2233A>C (p.Ser745Arg) c.1729A>C (p.Ser577Arg) c.1567A>C (p.Ser523Arg) n.2242A>C c.1660A>C (p.Ser554Arg) n.2195A>C n.2217A>C | |
16 | g.50712144A>G | CA395871450 | NOD2 | c.2152A>G (p.Ser718Gly) c.2233A>G (p.Ser745Gly) c.1729A>G (p.Ser577Gly) c.1567A>G (p.Ser523Gly) n.2242A>G c.1660A>G (p.Ser554Gly) n.2195A>G n.2217A>G | |
16 | g.50712144A>T | CA395871452 | NOD2 | c.2152A>T (p.Ser718Cys) c.2233A>T (p.Ser745Cys) c.1729A>T (p.Ser577Cys) c.1567A>T (p.Ser523Cys) n.2242A>T c.1660A>T (p.Ser554Cys) n.2195A>T n.2217A>T | |
16 | g.50712145G>A | CA395871454 | NOD2 | c.2153G>A (p.Ser718Asn) c.2234G>A (p.Ser745Asn) c.1730G>A (p.Ser577Asn) c.1568G>A (p.Ser523Asn) n.2243G>A c.1661G>A (p.Ser554Asn) n.2196G>A n.2218G>A | |
16 | g.50712145G>C | CA395871455 | NOD2 | c.2153G>C (p.Ser718Thr) c.2234G>C (p.Ser745Thr) c.1730G>C (p.Ser577Thr) c.1568G>C (p.Ser523Thr) n.2243G>C c.1661G>C (p.Ser554Thr) n.2196G>C n.2218G>C | |
16 | g.50712145G= | CA2221862730 | NOD2 | c.2153G= (p.Ser718=) c.2234G= (p.Ser745=) c.1730G= (p.Ser577=) c.1568G= (p.Ser523=) n.2243G= c.1661G= (p.Ser554=) n.2196G= n.2218G= | |
16 | g.50712145G>T | CA395871457 | NOD2 | c.2153G>T (p.Ser718Ile) c.2234G>T (p.Ser745Ile) c.1730G>T (p.Ser577Ile) c.1568G>T (p.Ser523Ile) n.2243G>T c.1661G>T (p.Ser554Ile) n.2196G>T n.2218G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50712146C>A | CA395871459 | NOD2 | c.2154C>A (p.Ser718Arg) c.2235C>A (p.Ser745Arg) c.1731C>A (p.Ser577Arg) c.1569C>A (p.Ser523Arg) n.2244C>A c.1662C>A (p.Ser554Arg) n.2197C>A n.2219C>A | dbSNP gnomAD v4 |
16 | g.50712146C= | CA2221862737 | NOD2 | c.2154C= (p.Ser718=) c.2235C= (p.Ser745=) c.1731C= (p.Ser577=) c.1569C= (p.Ser523=) n.2244C= c.1662C= (p.Ser554=) n.2197C= n.2219C= | |
16 | g.50712146C>G | CA395871461 | NOD2 | c.2154C>G (p.Ser718Arg) c.2235C>G (p.Ser745Arg) c.1731C>G (p.Ser577Arg) c.1569C>G (p.Ser523Arg) n.2244C>G c.1662C>G (p.Ser554Arg) n.2197C>G n.2219C>G | |
16 | g.50712146C>T | CA495779040 | NOD2 | c.2154C>T (p.Ser718=) c.2235C>T (p.Ser745=) c.1731C>T (p.Ser577=) c.1569C>T (p.Ser523=) n.2244C>T c.1662C>T (p.Ser554=) n.2197C>T n.2219C>T | dbSNP gnomAD v2 |
16 | g.50712147C>A | CA395871463 | NOD2 | c.2155C>A (p.Leu719Met) c.2236C>A (p.Leu746Met) c.1732C>A (p.Leu578Met) c.1570C>A (p.Leu524Met) n.2245C>A c.1663C>A (p.Leu555Met) n.2198C>A n.2220C>A | |
16 | g.50712147C>G | CA395871465 | NOD2 | c.2155C>G (p.Leu719Val) c.2236C>G (p.Leu746Val) c.1732C>G (p.Leu578Val) c.1570C>G (p.Leu524Val) n.2245C>G c.1663C>G (p.Leu555Val) n.2198C>G n.2220C>G | |
16 | g.50712147C>T | CA495779041 | NOD2 | c.2155C>T (p.Leu719=) c.2236C>T (p.Leu746=) c.1732C>T (p.Leu578=) c.1570C>T (p.Leu524=) n.2245C>T c.1663C>T (p.Leu555=) n.2198C>T n.2220C>T | gnomAD v4 |
16 | g.50712148T>A | CA395871471 | NOD2 | c.2156T>A (p.Leu719Gln) c.2237T>A (p.Leu746Gln) c.1733T>A (p.Leu578Gln) c.1571T>A (p.Leu524Gln) n.2246T>A c.1664T>A (p.Leu555Gln) n.2199T>A n.2221T>A | |
16 | g.50712148T>C | CA395871469 | NOD2 | c.2156T>C (p.Leu719Pro) c.2237T>C (p.Leu746Pro) c.1733T>C (p.Leu578Pro) c.1571T>C (p.Leu524Pro) n.2246T>C c.1664T>C (p.Leu555Pro) n.2199T>C n.2221T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712148T>G | CA395871467 | NOD2 | c.2156T>G (p.Leu719Arg) c.2237T>G (p.Leu746Arg) c.1733T>G (p.Leu578Arg) c.1571T>G (p.Leu524Arg) n.2246T>G c.1664T>G (p.Leu555Arg) n.2199T>G n.2221T>G | |
16 | g.50712148T= | CA2221862739 | NOD2 | c.2156T= (p.Leu719=) c.2237T= (p.Leu746=) c.1733T= (p.Leu578=) c.1571T= (p.Leu524=) n.2246T= c.1664T= (p.Leu555=) n.2199T= n.2221T= | |
16 | g.50712149G>A | CA495779042 | NOD2 | c.2157G>A (p.Leu719=) c.2238G>A (p.Leu746=) c.1734G>A (p.Leu578=) c.1572G>A (p.Leu524=) n.2247G>A c.1665G>A (p.Leu555=) n.2200G>A n.2222G>A | |
16 | g.50712149G>C | CA495779043 | NOD2 | c.2157G>C (p.Leu719=) c.2238G>C (p.Leu746=) c.1734G>C (p.Leu578=) c.1572G>C (p.Leu524=) n.2247G>C c.1665G>C (p.Leu555=) n.2200G>C n.2222G>C | gnomAD v4 |
16 | g.50712149G>T | CA495779044 | NOD2 | c.2157G>T (p.Leu719=) c.2238G>T (p.Leu746=) c.1734G>T (p.Leu578=) c.1572G>T (p.Leu524=) n.2247G>T c.1665G>T (p.Leu555=) n.2200G>T n.2222G>T | |
16 | g.50712150T>A | CA395871473 | NOD2 | c.2158T>A (p.Tyr720Asn) c.2239T>A (p.Tyr747Asn) c.1735T>A (p.Tyr579Asn) c.1573T>A (p.Tyr525Asn) n.2248T>A c.1666T>A (p.Tyr556Asn) n.2201T>A n.2223T>A | |
16 | g.50712150T>C | CA395871475 | NOD2 | c.2158T>C (p.Tyr720His) c.2239T>C (p.Tyr747His) c.1735T>C (p.Tyr579His) c.1573T>C (p.Tyr525His) n.2248T>C c.1666T>C (p.Tyr556His) n.2201T>C n.2223T>C | ClinVar dbSNP |
16 | g.50712150T>G | CA395871476 | NOD2 | c.2158T>G (p.Tyr720Asp) c.2239T>G (p.Tyr747Asp) c.1735T>G (p.Tyr579Asp) c.1573T>G (p.Tyr525Asp) n.2248T>G c.1666T>G (p.Tyr556Asp) n.2201T>G n.2223T>G | |
16 | g.50712151A>C | CA395871479 | NOD2 | c.2159A>C (p.Tyr720Ser) c.2240A>C (p.Tyr747Ser) c.1736A>C (p.Tyr579Ser) c.1574A>C (p.Tyr525Ser) n.2249A>C c.1667A>C (p.Tyr556Ser) n.2202A>C n.2224A>C | |
16 | g.50712151A>G | CA395871481 | NOD2 | c.2159A>G (p.Tyr720Cys) c.2240A>G (p.Tyr747Cys) c.1736A>G (p.Tyr579Cys) c.1574A>G (p.Tyr525Cys) n.2249A>G c.1667A>G (p.Tyr556Cys) n.2202A>G n.2224A>G | |
16 | g.50712151A>T | CA395871483 | NOD2 | c.2159A>T (p.Tyr720Phe) c.2240A>T (p.Tyr747Phe) c.1736A>T (p.Tyr579Phe) c.1574A>T (p.Tyr525Phe) n.2249A>T c.1667A>T (p.Tyr556Phe) n.2202A>T n.2224A>T | |
16 | g.50712152C>A | CA395871485 | NOD2 | c.2160C>A (p.Tyr720Ter) c.2241C>A (p.Tyr747Ter) c.1737C>A (p.Tyr579Ter) c.1575C>A (p.Tyr525Ter) n.2250C>A c.1668C>A (p.Tyr556Ter) n.2203C>A n.2225C>A | |
16 | g.50712152C= | CA2221862742 | NOD2 | c.2160C= (p.Tyr720=) c.2241C= (p.Tyr747=) c.1737C= (p.Tyr579=) c.1575C= (p.Tyr525=) n.2250C= c.1668C= (p.Tyr556=) n.2203C= n.2225C= | |
16 | g.50712152C>G | CA395871487 | NOD2 | c.2160C>G (p.Tyr720Ter) c.2241C>G (p.Tyr747Ter) c.1737C>G (p.Tyr579Ter) c.1575C>G (p.Tyr525Ter) n.2250C>G c.1668C>G (p.Tyr556Ter) n.2203C>G n.2225C>G | gnomAD v4 |
16 | g.50712152C>T | CA8051734 | NOD2 | c.2160C>T (p.Tyr720=) c.2241C>T (p.Tyr747=) c.1737C>T (p.Tyr579=) c.1575C>T (p.Tyr525=) n.2250C>T c.1668C>T (p.Tyr556=) n.2203C>T n.2225C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.50712153G>A | CA8051735 | NOD2 | c.2161G>A (p.Glu721Lys) c.2242G>A (p.Glu748Lys) c.1738G>A (p.Glu580Lys) c.1576G>A (p.Glu526Lys) n.2251G>A c.1669G>A (p.Glu557Lys) n.2204G>A n.2226G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712153G>C | CA395871491 | NOD2 | c.2161G>C (p.Glu721Gln) c.2242G>C (p.Glu748Gln) c.1738G>C (p.Glu580Gln) c.1576G>C (p.Glu526Gln) n.2251G>C c.1669G>C (p.Glu557Gln) n.2204G>C n.2226G>C | |
16 | g.50712153G= | CA2221862747 | NOD2 | c.2161G= (p.Glu721=) c.2242G= (p.Glu748=) c.1738G= (p.Glu580=) c.1576G= (p.Glu526=) n.2251G= c.1669G= (p.Glu557=) n.2204G= n.2226G= | |
16 | g.50712153G>T | CA395871493 | NOD2 | c.2161G>T (p.Glu721Ter) c.2242G>T (p.Glu748Ter) c.1738G>T (p.Glu580Ter) c.1576G>T (p.Glu526Ter) n.2251G>T c.1669G>T (p.Glu557Ter) n.2204G>T n.2226G>T | |
16 | g.50712154A>C | CA395871497 | NOD2 | c.2162A>C (p.Glu721Ala) c.2243A>C (p.Glu748Ala) c.1739A>C (p.Glu580Ala) c.1577A>C (p.Glu526Ala) n.2252A>C c.1670A>C (p.Glu557Ala) n.2205A>C n.2227A>C | |
16 | g.50712154A>G | CA395871499 | NOD2 | c.2162A>G (p.Glu721Gly) c.2243A>G (p.Glu748Gly) c.1739A>G (p.Glu580Gly) c.1577A>G (p.Glu526Gly) n.2252A>G c.1670A>G (p.Glu557Gly) n.2205A>G n.2227A>G | |
16 | g.50712154A>T | CA395871495 | NOD2 | c.2162A>T (p.Glu721Val) c.2243A>T (p.Glu748Val) c.1739A>T (p.Glu580Val) c.1577A>T (p.Glu526Val) n.2252A>T c.1670A>T (p.Glu557Val) n.2205A>T n.2227A>T |