| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 | |
| 16 | g.50712155G>A | CA8051736 | NOD2 | c.2163G>A (p.Glu721=) c.2244G>A (p.Glu748=) c.1740G>A (p.Glu580=) c.1578G>A (p.Glu526=) n.2253G>A c.1671G>A (p.Glu557=) n.2206G>A n.2228G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712155G>C | CA281264176 | NOD2 | c.2163G>C (p.Glu721Asp) c.2244G>C (p.Glu748Asp) c.1740G>C (p.Glu580Asp) c.1578G>C (p.Glu526Asp) n.2253G>C c.1671G>C (p.Glu557Asp) n.2206G>C n.2228G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712155G= | CA2221862749 | NOD2 | c.2163G= (p.Glu721=) c.2244G= (p.Glu748=) c.1740G= (p.Glu580=) c.1578G= (p.Glu526=) n.2253G= c.1671G= (p.Glu557=) n.2206G= n.2228G= | |
| 16 | g.50712155G>T | CA395871503 | NOD2 | c.2163G>T (p.Glu721Asp) c.2244G>T (p.Glu748Asp) c.1740G>T (p.Glu580Asp) c.1578G>T (p.Glu526Asp) n.2253G>T c.1671G>T (p.Glu557Asp) n.2206G>T n.2228G>T | |
| 16 | g.50712156A= | CA2221862755 | NOD2 | c.2164A= (p.Met722=) c.2245A= (p.Met749=) c.1741A= (p.Met581=) c.1579A= (p.Met527=) n.2254A= c.1672A= (p.Met558=) n.2207A= n.2229A= | |
| 16 | g.50712156A>C | CA395871505 | NOD2 | c.2164A>C (p.Met722Leu) c.2245A>C (p.Met749Leu) c.1741A>C (p.Met581Leu) c.1579A>C (p.Met527Leu) n.2254A>C c.1672A>C (p.Met558Leu) n.2207A>C n.2229A>C | |
| 16 | g.50712156A>G | CA8051737 | NOD2 | c.2164A>G (p.Met722Val) c.2245A>G (p.Met749Val) c.1741A>G (p.Met581Val) c.1579A>G (p.Met527Val) n.2254A>G c.1672A>G (p.Met558Val) n.2207A>G n.2229A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712156A>T | CA395871508 | NOD2 | c.2164A>T (p.Met722Leu) c.2245A>T (p.Met749Leu) c.1741A>T (p.Met581Leu) c.1579A>T (p.Met527Leu) n.2254A>T c.1672A>T (p.Met558Leu) n.2207A>T n.2229A>T | |
| 16 | g.50712157T>A | CA395871510 | NOD2 | c.2165T>A (p.Met722Lys) c.2246T>A (p.Met749Lys) c.1742T>A (p.Met581Lys) c.1580T>A (p.Met527Lys) n.2255T>A c.1673T>A (p.Met558Lys) n.2208T>A n.2230T>A | |
| 16 | g.50712157T>C | CA395871512 | NOD2 | c.2165T>C (p.Met722Thr) c.2246T>C (p.Met749Thr) c.1742T>C (p.Met581Thr) c.1580T>C (p.Met527Thr) n.2255T>C c.1673T>C (p.Met558Thr) n.2208T>C n.2230T>C | gnomAD v4 |
| 16 | g.50712157T>G | CA395871514 | NOD2 | c.2165T>G (p.Met722Arg) c.2246T>G (p.Met749Arg) c.1742T>G (p.Met581Arg) c.1580T>G (p.Met527Arg) n.2255T>G c.1673T>G (p.Met558Arg) n.2208T>G n.2230T>G | gnomAD v4 |
| 16 | g.50712158G>A | CA395871516 | NOD2 | c.2166G>A (p.Met722Ile) c.2247G>A (p.Met749Ile) c.1743G>A (p.Met581Ile) c.1581G>A (p.Met527Ile) n.2256G>A c.1674G>A (p.Met558Ile) n.2209G>A n.2231G>A | dbSNP |
| 16 | g.50712158G>C | CA395871518 | NOD2 | c.2166G>C (p.Met722Ile) c.2247G>C (p.Met749Ile) c.1743G>C (p.Met581Ile) c.1581G>C (p.Met527Ile) n.2256G>C c.1674G>C (p.Met558Ile) n.2209G>C n.2231G>C | |
| 16 | g.50712158G= | CA2221862759 | NOD2 | c.2166G= (p.Met722=) c.2247G= (p.Met749=) c.1743G= (p.Met581=) c.1581G= (p.Met527=) n.2256G= c.1674G= (p.Met558=) n.2209G= n.2231G= | |
| 16 | g.50712158G>T | CA8051738 | NOD2 | c.2166G>T (p.Met722Ile) c.2247G>T (p.Met749Ile) c.1743G>T (p.Met581Ile) c.1581G>T (p.Met527Ile) n.2256G>T c.1674G>T (p.Met558Ile) n.2209G>T n.2231G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712159C>A | CA395871523 | NOD2 | c.2167C>A (p.Gln723Lys) c.2248C>A (p.Gln750Lys) c.1744C>A (p.Gln582Lys) c.1582C>A (p.Gln528Lys) n.2257C>A c.1675C>A (p.Gln559Lys) n.2210C>A n.2232C>A | |
| 16 | g.50712159C= | CA2221862764 | NOD2 | c.2167C= (p.Gln723=) c.2248C= (p.Gln750=) c.1744C= (p.Gln582=) c.1582C= (p.Gln528=) n.2257C= c.1675C= (p.Gln559=) n.2210C= n.2232C= | |
| 16 | g.50712159C>G | CA8051739 | NOD2 | c.2167C>G (p.Gln723Glu) c.2248C>G (p.Gln750Glu) c.1744C>G (p.Gln582Glu) c.1582C>G (p.Gln528Glu) n.2257C>G c.1675C>G (p.Gln559Glu) n.2210C>G n.2232C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712159C>T | CA395871521 | NOD2 | c.2167C>T (p.Gln723Ter) c.2248C>T (p.Gln750Ter) c.1744C>T (p.Gln582Ter) c.1582C>T (p.Gln528Ter) n.2257C>T c.1675C>T (p.Gln559Ter) n.2210C>T n.2232C>T | |
| 16 | g.50712160A>C | CA395871526 | NOD2 | c.2168A>C (p.Gln723Pro) c.2249A>C (p.Gln750Pro) c.1745A>C (p.Gln582Pro) c.1583A>C (p.Gln528Pro) n.2258A>C c.1676A>C (p.Gln559Pro) n.2211A>C n.2233A>C | |
| 16 | g.50712160A>G | CA395871528 | NOD2 | c.2168A>G (p.Gln723Arg) c.2249A>G (p.Gln750Arg) c.1745A>G (p.Gln582Arg) c.1583A>G (p.Gln528Arg) n.2258A>G c.1676A>G (p.Gln559Arg) n.2211A>G n.2233A>G | gnomAD v4 |
| 16 | g.50712160A>T | CA395871530 | NOD2 | c.2168A>T (p.Gln723Leu) c.2249A>T (p.Gln750Leu) c.1745A>T (p.Gln582Leu) c.1583A>T (p.Gln528Leu) n.2258A>T c.1676A>T (p.Gln559Leu) n.2211A>T n.2233A>T | |
| 16 | g.50712161G>A | CA495779048 | NOD2 | c.2169G>A (p.Gln723=) c.2250G>A (p.Gln750=) c.1746G>A (p.Gln582=) c.1584G>A (p.Gln528=) n.2259G>A c.1677G>A (p.Gln559=) n.2212G>A n.2234G>A | |
| 16 | g.50712161G>C | CA395871532 | NOD2 | c.2169G>C (p.Gln723His) c.2250G>C (p.Gln750His) c.1746G>C (p.Gln582His) c.1584G>C (p.Gln528His) n.2259G>C c.1677G>C (p.Gln559His) n.2212G>C n.2234G>C | |
| 16 | g.50712161G>T | CA395871534 | NOD2 | c.2169G>T (p.Gln723His) c.2250G>T (p.Gln750His) c.1746G>T (p.Gln582His) c.1584G>T (p.Gln528His) n.2259G>T c.1677G>T (p.Gln559His) n.2212G>T n.2234G>T | |
| 16 | g.50712162G>A | CA395871540 | NOD2 | c.2170G>A (p.Glu724Lys) c.2251G>A (p.Glu751Lys) c.1747G>A (p.Glu583Lys) c.1585G>A (p.Glu529Lys) n.2260G>A c.1678G>A (p.Glu560Lys) n.2213G>A n.2235G>A | |
| 16 | g.50712162G>C | CA395871536 | NOD2 | c.2170G>C (p.Glu724Gln) c.2251G>C (p.Glu751Gln) c.1747G>C (p.Glu583Gln) c.1585G>C (p.Glu529Gln) n.2260G>C c.1678G>C (p.Glu560Gln) n.2213G>C n.2235G>C | gnomAD v4 |
| 16 | g.50712162G>T | CA395871538 | NOD2 | c.2170G>T (p.Glu724Ter) c.2251G>T (p.Glu751Ter) c.1747G>T (p.Glu583Ter) c.1585G>T (p.Glu529Ter) n.2260G>T c.1678G>T (p.Glu560Ter) n.2213G>T n.2235G>T | |
| 16 | g.50712163A= | CA2221862767 | NOD2 | c.2171A= (p.Glu724=) c.2252A= (p.Glu751=) c.1748A= (p.Glu583=) c.1586A= (p.Glu529=) n.2261A= c.1679A= (p.Glu560=) n.2214A= n.2236A= | |
| 16 | g.50712163A>C | CA395871542 | NOD2 | c.2171A>C (p.Glu724Ala) c.2252A>C (p.Glu751Ala) c.1748A>C (p.Glu583Ala) c.1586A>C (p.Glu529Ala) n.2261A>C c.1679A>C (p.Glu560Ala) n.2214A>C n.2236A>C | |
| 16 | g.50712163A>G | CA395871543 | NOD2 | c.2171A>G (p.Glu724Gly) c.2252A>G (p.Glu751Gly) c.1748A>G (p.Glu583Gly) c.1586A>G (p.Glu529Gly) n.2261A>G c.1679A>G (p.Glu560Gly) n.2214A>G n.2236A>G | ClinVar dbSNP |
| 16 | g.50712163A>T | CA395871545 | NOD2 | c.2171A>T (p.Glu724Val) c.2252A>T (p.Glu751Val) c.1748A>T (p.Glu583Val) c.1586A>T (p.Glu529Val) n.2261A>T c.1679A>T (p.Glu560Val) n.2214A>T n.2236A>T | |
| 16 | g.50712164G>A | CA495779050 | NOD2 | c.2172G>A (p.Glu724=) c.2253G>A (p.Glu751=) c.1749G>A (p.Glu583=) c.1587G>A (p.Glu529=) n.2262G>A c.1680G>A (p.Glu560=) n.2215G>A n.2237G>A | gnomAD v4 |
| 16 | g.50712164G>C | CA395871547 | NOD2 | c.2172G>C (p.Glu724Asp) c.2253G>C (p.Glu751Asp) c.1749G>C (p.Glu583Asp) c.1587G>C (p.Glu529Asp) n.2262G>C c.1680G>C (p.Glu560Asp) n.2215G>C n.2237G>C | |
| 16 | g.50712164G>T | CA395871549 | NOD2 | c.2172G>T (p.Glu724Asp) c.2253G>T (p.Glu751Asp) c.1749G>T (p.Glu583Asp) c.1587G>T (p.Glu529Asp) n.2262G>T c.1680G>T (p.Glu560Asp) n.2215G>T n.2237G>T | |
| 16 | g.50712165G>A | CA395871555 | NOD2 | c.2173G>A (p.Glu725Lys) c.2254G>A (p.Glu752Lys) c.1750G>A (p.Glu584Lys) c.1588G>A (p.Glu530Lys) n.2263G>A c.1681G>A (p.Glu561Lys) n.2216G>A n.2238G>A | gnomAD v4 |
| 16 | g.50712165G>C | CA395871554 | NOD2 | c.2173G>C (p.Glu725Gln) c.2254G>C (p.Glu752Gln) c.1750G>C (p.Glu584Gln) c.1588G>C (p.Glu530Gln) n.2263G>C c.1681G>C (p.Glu561Gln) n.2216G>C n.2238G>C | |
| 16 | g.50712165G>T | CA395871551 | NOD2 | c.2173G>T (p.Glu725Ter) c.2254G>T (p.Glu752Ter) c.1750G>T (p.Glu584Ter) c.1588G>T (p.Glu530Ter) n.2263G>T c.1681G>T (p.Glu561Ter) n.2216G>T n.2238G>T | gnomAD v4 |
| 16 | g.50712166A>C | CA395871557 | NOD2 | c.2174A>C (p.Glu725Ala) c.2255A>C (p.Glu752Ala) c.1751A>C (p.Glu584Ala) c.1589A>C (p.Glu530Ala) n.2264A>C c.1682A>C (p.Glu561Ala) n.2217A>C n.2239A>C | |
| 16 | g.50712166A>G | CA395871561 | NOD2 | c.2174A>G (p.Glu725Gly) c.2255A>G (p.Glu752Gly) c.1751A>G (p.Glu584Gly) c.1589A>G (p.Glu530Gly) n.2264A>G c.1682A>G (p.Glu561Gly) n.2217A>G n.2239A>G | |
| 16 | g.50712166A>T | CA395871558 | NOD2 | c.2174A>T (p.Glu725Val) c.2255A>T (p.Glu752Val) c.1751A>T (p.Glu584Val) c.1589A>T (p.Glu530Val) n.2264A>T c.1682A>T (p.Glu561Val) n.2217A>T n.2239A>T | |
| 16 | g.50712167G>A | CA495779051 | NOD2 | c.2175G>A (p.Glu725=) c.2256G>A (p.Glu752=) c.1752G>A (p.Glu584=) c.1590G>A (p.Glu530=) n.2265G>A c.1683G>A (p.Glu561=) n.2218G>A n.2240G>A | |
| 16 | g.50712167G>C | CA395871563 | NOD2 | c.2175G>C (p.Glu725Asp) c.2256G>C (p.Glu752Asp) c.1752G>C (p.Glu584Asp) c.1590G>C (p.Glu530Asp) n.2265G>C c.1683G>C (p.Glu561Asp) n.2218G>C n.2240G>C | |
| 16 | g.50712167G>T | CA395871565 | NOD2 | c.2175G>T (p.Glu725Asp) c.2256G>T (p.Glu752Asp) c.1752G>T (p.Glu584Asp) c.1590G>T (p.Glu530Asp) n.2265G>T c.1683G>T (p.Glu561Asp) n.2218G>T n.2240G>T | |
| 16 | g.50712167_50712168delinsGC | CA2221862771 | NOD2 | c.2175_2176delinsGC (p.Glu725=) c.2256_2257delinsGC (p.Glu752=) c.1752_1753delinsGC (p.Glu584=) c.1590_1591delinsGC (p.Glu530=) n.2265_2266delinsGC c.1683_1684delinsGC (p.Glu561=) n.2218_2219delinsGC n.2240_2241delinsGC | |
| 16 | g.50712168del | CA721338421 | NOD2 | c.2176del (p.Arg726GlyfsTer10) c.2257del (p.Arg753GlyfsTer10) c.1753del (p.Arg585GlyfsTer10) c.1591del (p.Arg531GlyfsTer10) n.2266del c.1684del (p.Arg562GlyfsTer10) n.2219del n.2241del | dbSNP |
| 16 | g.50712168C>A | CA8051740 | NOD2 | c.2176C>A (p.Arg726=) c.2257C>A (p.Arg753=) c.1753C>A (p.Arg585=) c.1591C>A (p.Arg531=) n.2266C>A c.1684C>A (p.Arg562=) n.2219C>A n.2241C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712168C= | CA2221862777 | NOD2 | c.2176C= (p.Arg726=) c.2257C= (p.Arg753=) c.1753C= (p.Arg585=) c.1591C= (p.Arg531=) n.2266C= c.1684C= (p.Arg562=) n.2219C= n.2241C= | |
| 16 | g.50712168C>G | CA395871568 | NOD2 | c.2176C>G (p.Arg726Gly) c.2257C>G (p.Arg753Gly) c.1753C>G (p.Arg585Gly) c.1591C>G (p.Arg531Gly) n.2266C>G c.1684C>G (p.Arg562Gly) n.2219C>G n.2241C>G | dbSNP gnomAD v4 |
| 16 | g.50712168C>T | CA8051741 | NOD2 | c.2176C>T (p.Arg726Trp) c.2257C>T (p.Arg753Trp) c.1753C>T (p.Arg585Trp) c.1591C>T (p.Arg531Trp) n.2266C>T c.1684C>T (p.Arg562Trp) n.2219C>T n.2241C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712169G>A | CA8051742 | NOD2 | c.2177G>A (p.Arg726Gln) c.2258G>A (p.Arg753Gln) c.1754G>A (p.Arg585Gln) c.1592G>A (p.Arg531Gln) n.2267G>A c.1685G>A (p.Arg562Gln) n.2220G>A n.2242G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712169G>C | CA395871572 | NOD2 | c.2177G>C (p.Arg726Pro) c.2258G>C (p.Arg753Pro) c.1754G>C (p.Arg585Pro) c.1592G>C (p.Arg531Pro) n.2267G>C c.1685G>C (p.Arg562Pro) n.2220G>C n.2242G>C | |
| 16 | g.50712169G= | CA2221862782 | NOD2 | c.2177G= (p.Arg726=) c.2258G= (p.Arg753=) c.1754G= (p.Arg585=) c.1592G= (p.Arg531=) n.2267G= c.1685G= (p.Arg562=) n.2220G= n.2242G= | |
| 16 | g.50712169G>T | CA395871574 | NOD2 | c.2177G>T (p.Arg726Leu) c.2258G>T (p.Arg753Leu) c.1754G>T (p.Arg585Leu) c.1592G>T (p.Arg531Leu) n.2267G>T c.1685G>T (p.Arg562Leu) n.2220G>T n.2242G>T | |
| 16 | g.50712170G>A | CA495779053 | NOD2 | c.2178G>A (p.Arg726=) c.2259G>A (p.Arg753=) c.1755G>A (p.Arg585=) c.1593G>A (p.Arg531=) n.2268G>A c.1686G>A (p.Arg562=) n.2221G>A n.2243G>A | |
| 16 | g.50712170G>C | CA495779055 | NOD2 | c.2178G>C (p.Arg726=) c.2259G>C (p.Arg753=) c.1755G>C (p.Arg585=) c.1593G>C (p.Arg531=) n.2268G>C c.1686G>C (p.Arg562=) n.2221G>C n.2243G>C | ClinVar dbSNP |
| 16 | g.50712170G>T | CA495779054 | NOD2 | c.2178G>T (p.Arg726=) c.2259G>T (p.Arg753=) c.1755G>T (p.Arg585=) c.1593G>T (p.Arg531=) n.2268G>T c.1686G>T (p.Arg562=) n.2221G>T n.2243G>T | |
| 16 | g.50712171C>A | CA395871576 | NOD2 | c.2179C>A (p.Leu727Met) c.2260C>A (p.Leu754Met) c.1756C>A (p.Leu586Met) c.1594C>A (p.Leu532Met) n.2269C>A c.1687C>A (p.Leu563Met) n.2222C>A n.2244C>A | |
| 16 | g.50712171C>G | CA395871577 | NOD2 | c.2179C>G (p.Leu727Val) c.2260C>G (p.Leu754Val) c.1756C>G (p.Leu586Val) c.1594C>G (p.Leu532Val) n.2269C>G c.1687C>G (p.Leu563Val) n.2222C>G n.2244C>G | |
| 16 | g.50712171C>T | CA495779056 | NOD2 | c.2179C>T (p.Leu727=) c.2260C>T (p.Leu754=) c.1756C>T (p.Leu586=) c.1594C>T (p.Leu532=) n.2269C>T c.1687C>T (p.Leu563=) n.2222C>T n.2244C>T | gnomAD v4 |
| 16 | g.50712172T>A | CA395871583 | NOD2 | c.2180T>A (p.Leu727Gln) c.2261T>A (p.Leu754Gln) c.1757T>A (p.Leu586Gln) c.1595T>A (p.Leu532Gln) n.2270T>A c.1688T>A (p.Leu563Gln) n.2223T>A n.2245T>A | |
| 16 | g.50712172T>C | CA395871581 | NOD2 | c.2180T>C (p.Leu727Pro) c.2261T>C (p.Leu754Pro) c.1757T>C (p.Leu586Pro) c.1595T>C (p.Leu532Pro) n.2270T>C c.1688T>C (p.Leu563Pro) n.2223T>C n.2245T>C | |
| 16 | g.50712172T>G | CA395871579 | NOD2 | c.2180T>G (p.Leu727Arg) c.2261T>G (p.Leu754Arg) c.1757T>G (p.Leu586Arg) c.1595T>G (p.Leu532Arg) n.2270T>G c.1688T>G (p.Leu563Arg) n.2223T>G n.2245T>G | |
| 16 | g.50712173G>A | CA230146 | NOD2 | c.2181G>A (p.Leu727=) c.2262G>A (p.Leu754=) c.1758G>A (p.Leu586=) c.1596G>A (p.Leu532=) n.2271G>A c.1689G>A (p.Leu563=) n.2224G>A n.2246G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712173G>C | CA495779057 | NOD2 | c.2181G>C (p.Leu727=) c.2262G>C (p.Leu754=) c.1758G>C (p.Leu586=) c.1596G>C (p.Leu532=) n.2271G>C c.1689G>C (p.Leu563=) n.2224G>C n.2246G>C | |
| 16 | g.50712173G= | CA2221862786 | NOD2 | c.2181G= (p.Leu727=) c.2262G= (p.Leu754=) c.1758G= (p.Leu586=) c.1596G= (p.Leu532=) n.2271G= c.1689G= (p.Leu563=) n.2224G= n.2246G= | |
| 16 | g.50712173G>T | CA495779058 | NOD2 | c.2181G>T (p.Leu727=) c.2262G>T (p.Leu754=) c.1758G>T (p.Leu586=) c.1596G>T (p.Leu532=) n.2271G>T c.1689G>T (p.Leu563=) n.2224G>T n.2246G>T | |
| 16 | g.50712174G>A | CA395871586 | NOD2 | c.2182G>A (p.Ala728Thr) c.2263G>A (p.Ala755Thr) c.1759G>A (p.Ala587Thr) c.1597G>A (p.Ala533Thr) n.2272G>A c.1690G>A (p.Ala564Thr) n.2225G>A n.2247G>A | |
| 16 | g.50712174G>C | CA395871588 | NOD2 | c.2182G>C (p.Ala728Pro) c.2263G>C (p.Ala755Pro) c.1759G>C (p.Ala587Pro) c.1597G>C (p.Ala533Pro) n.2272G>C c.1690G>C (p.Ala564Pro) n.2225G>C n.2247G>C | |
| 16 | g.50712174G>T | CA395871590 | NOD2 | c.2182G>T (p.Ala728Ser) c.2263G>T (p.Ala755Ser) c.1759G>T (p.Ala587Ser) c.1597G>T (p.Ala533Ser) n.2272G>T c.1690G>T (p.Ala564Ser) n.2225G>T n.2247G>T | gnomAD v4 |
| 16 | g.50712175C>A | CA395871591 | NOD2 | c.2183C>A (p.Ala728Asp) c.2264C>A (p.Ala755Asp) c.1760C>A (p.Ala587Asp) c.1598C>A (p.Ala533Asp) n.2273C>A c.1691C>A (p.Ala564Asp) n.2226C>A n.2248C>A | |
| 16 | g.50712175C= | CA2221862792 | NOD2 | c.2183C= (p.Ala728=) c.2264C= (p.Ala755=) c.1760C= (p.Ala587=) c.1598C= (p.Ala533=) n.2273C= c.1691C= (p.Ala564=) n.2226C= n.2248C= | |
| 16 | g.50712175C>G | CA395871592 | NOD2 | c.2183C>G (p.Ala728Gly) c.2264C>G (p.Ala755Gly) c.1760C>G (p.Ala587Gly) c.1598C>G (p.Ala533Gly) n.2273C>G c.1691C>G (p.Ala564Gly) n.2226C>G n.2248C>G | gnomAD v4 |
| 16 | g.50712175C>T | CA8051743 | NOD2 | c.2183C>T (p.Ala728Val) c.2264C>T (p.Ala755Val) c.1760C>T (p.Ala587Val) c.1598C>T (p.Ala533Val) n.2273C>T c.1691C>T (p.Ala564Val) n.2226C>T n.2248C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712176T>A | CA495779059 | NOD2 | c.2184T>A (p.Ala728=) c.2265T>A (p.Ala755=) c.1761T>A (p.Ala587=) c.1599T>A (p.Ala533=) n.2274T>A c.1692T>A (p.Ala564=) n.2227T>A n.2249T>A | |
| 16 | g.50712176T>C | CA495779060 | NOD2 | c.2184T>C (p.Ala728=) c.2265T>C (p.Ala755=) c.1761T>C (p.Ala587=) c.1599T>C (p.Ala533=) n.2274T>C c.1692T>C (p.Ala564=) n.2227T>C n.2249T>C | |
| 16 | g.50712176T>G | CA495779061 | NOD2 | c.2184T>G (p.Ala728=) c.2265T>G (p.Ala755=) c.1761T>G (p.Ala587=) c.1599T>G (p.Ala533=) n.2274T>G c.1692T>G (p.Ala564=) n.2227T>G n.2249T>G | |
| 16 | g.50712176T= | CA2221862798 | NOD2 | c.2184T= (p.Ala728=) c.2265T= (p.Ala755=) c.1761T= (p.Ala587=) c.1599T= (p.Ala533=) n.2274T= c.1692T= (p.Ala564=) n.2227T= n.2249T= | |
| 16 | g.50712177C>A | CA495779062 | NOD2 | c.2185C>A (p.Arg729=) c.2266C>A (p.Arg756=) c.1762C>A (p.Arg588=) c.1600C>A (p.Arg534=) n.2275C>A c.1693C>A (p.Arg565=) n.2228C>A n.2250C>A | |
| 16 | g.50712177C= | CA2221862803 | NOD2 | c.2185C= (p.Arg729=) c.2266C= (p.Arg756=) c.1762C= (p.Arg588=) c.1600C= (p.Arg534=) n.2275C= c.1693C= (p.Arg565=) n.2228C= n.2250C= | |
| 16 | g.50712177C>G | CA395871595 | NOD2 | c.2185C>G (p.Arg729Gly) c.2266C>G (p.Arg756Gly) c.1762C>G (p.Arg588Gly) c.1600C>G (p.Arg534Gly) n.2275C>G c.1693C>G (p.Arg565Gly) n.2228C>G n.2250C>G | |
| 16 | g.50712177C>T | CA8051744 | NOD2 | c.2185C>T (p.Arg729Trp) c.2266C>T (p.Arg756Trp) c.1762C>T (p.Arg588Trp) c.1600C>T (p.Arg534Trp) n.2275C>T c.1693C>T (p.Arg565Trp) n.2228C>T n.2250C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712177dup | CA919705292 | NOD2 | c.2185dup (p.Arg729ProfsTer23) c.2266dup (p.Arg756ProfsTer23) c.1762dup (p.Arg588ProfsTer23) c.1600dup (p.Arg534ProfsTer23) n.2275dup c.1693dup (p.Arg565ProfsTer23) n.2228dup n.2250dup | dbSNP |
| 16 | g.50712178G>A | CA8051745 | NOD2 | c.2186G>A (p.Arg729Gln) c.2267G>A (p.Arg756Gln) c.1763G>A (p.Arg588Gln) c.1601G>A (p.Arg534Gln) n.2276G>A c.1694G>A (p.Arg565Gln) n.2229G>A n.2251G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.50712178G>C | CA395871596 | NOD2 | c.2186G>C (p.Arg729Pro) c.2267G>C (p.Arg756Pro) c.1763G>C (p.Arg588Pro) c.1601G>C (p.Arg534Pro) n.2276G>C c.1694G>C (p.Arg565Pro) n.2229G>C n.2251G>C | |
| 16 | g.50712178G= | CA2221862809 | NOD2 | c.2186G= (p.Arg729=) c.2267G= (p.Arg756=) c.1763G= (p.Arg588=) c.1601G= (p.Arg534=) n.2276G= c.1694G= (p.Arg565=) n.2229G= n.2251G= | |
| 16 | g.50712178G>T | CA395871598 | NOD2 | c.2186G>T (p.Arg729Leu) c.2267G>T (p.Arg756Leu) c.1763G>T (p.Arg588Leu) c.1601G>T (p.Arg534Leu) n.2276G>T c.1694G>T (p.Arg565Leu) n.2229G>T n.2251G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712179G>A | CA495779063 | NOD2 | c.2187G>A (p.Arg729=) c.2268G>A (p.Arg756=) c.1764G>A (p.Arg588=) c.1602G>A (p.Arg534=) n.2277G>A c.1695G>A (p.Arg565=) n.2230G>A n.2252G>A | |
| 16 | g.50712179G>C | CA495779064 | NOD2 | c.2187G>C (p.Arg729=) c.2268G>C (p.Arg756=) c.1764G>C (p.Arg588=) c.1602G>C (p.Arg534=) n.2277G>C c.1695G>C (p.Arg565=) n.2230G>C n.2252G>C | |
| 16 | g.50712179G>T | CA495779065 | NOD2 | c.2187G>T (p.Arg729=) c.2268G>T (p.Arg756=) c.1764G>T (p.Arg588=) c.1602G>T (p.Arg534=) n.2277G>T c.1695G>T (p.Arg565=) n.2230G>T n.2252G>T | |
| 16 | g.50712180A>C | CA395871602 | NOD2 | c.2188A>C (p.Lys730Gln) c.2269A>C (p.Lys757Gln) c.1765A>C (p.Lys589Gln) c.1603A>C (p.Lys535Gln) n.2278A>C c.1696A>C (p.Lys566Gln) n.2231A>C n.2253A>C | |
| 16 | g.50712180A>G | CA395871603 | NOD2 | c.2188A>G (p.Lys730Glu) c.2269A>G (p.Lys757Glu) c.1765A>G (p.Lys589Glu) c.1603A>G (p.Lys535Glu) n.2278A>G c.1696A>G (p.Lys566Glu) n.2231A>G n.2253A>G | gnomAD v4 |
| 16 | g.50712180A>T | CA395871600 | NOD2 | c.2188A>T (p.Lys730Ter) c.2269A>T (p.Lys757Ter) c.1765A>T (p.Lys589Ter) c.1603A>T (p.Lys535Ter) n.2278A>T c.1696A>T (p.Lys566Ter) n.2231A>T n.2253A>T | |
| 16 | g.50712181A= | CA2221862815 | NOD2 | c.2189A= (p.Lys730=) c.2270A= (p.Lys757=) c.1766A= (p.Lys589=) c.1604A= (p.Lys535=) n.2279A= c.1697A= (p.Lys566=) n.2232A= n.2254A= | |
| 16 | g.50712181A>C | CA395871605 | NOD2 | c.2189A>C (p.Lys730Thr) c.2270A>C (p.Lys757Thr) c.1766A>C (p.Lys589Thr) c.1604A>C (p.Lys535Thr) n.2279A>C c.1697A>C (p.Lys566Thr) n.2232A>C n.2254A>C | |
| 16 | g.50712181A>G | CA395871607 | NOD2 | c.2189A>G (p.Lys730Arg) c.2270A>G (p.Lys757Arg) c.1766A>G (p.Lys589Arg) c.1604A>G (p.Lys535Arg) n.2279A>G c.1697A>G (p.Lys566Arg) n.2232A>G n.2254A>G | dbSNP |
| 16 | g.50712181A>T | CA395871609 | NOD2 | c.2189A>T (p.Lys730Met) c.2270A>T (p.Lys757Met) c.1766A>T (p.Lys589Met) c.1604A>T (p.Lys535Met) n.2279A>T c.1697A>T (p.Lys566Met) n.2232A>T n.2254A>T | |
| 16 | g.50712182G>A | CA495779066 | NOD2 | c.2190G>A (p.Lys730=) c.2271G>A (p.Lys757=) c.1767G>A (p.Lys589=) c.1605G>A (p.Lys535=) n.2280G>A c.1698G>A (p.Lys566=) n.2233G>A n.2255G>A | |
| 16 | g.50712182G>C | CA395871611 | NOD2 | c.2190G>C (p.Lys730Asn) c.2271G>C (p.Lys757Asn) c.1767G>C (p.Lys589Asn) c.1605G>C (p.Lys535Asn) n.2280G>C c.1698G>C (p.Lys566Asn) n.2233G>C n.2255G>C | |
| 16 | g.50712182G>T | CA395871613 | NOD2 | c.2190G>T (p.Lys730Asn) c.2271G>T (p.Lys757Asn) c.1767G>T (p.Lys589Asn) c.1605G>T (p.Lys535Asn) n.2280G>T c.1698G>T (p.Lys566Asn) n.2233G>T n.2255G>T | |
| 16 | g.50712183G>A | CA395871619 | NOD2 | c.2191G>A (p.Ala731Thr) c.2272G>A (p.Ala758Thr) c.1768G>A (p.Ala590Thr) c.1606G>A (p.Ala536Thr) n.2281G>A c.1699G>A (p.Ala567Thr) n.2234G>A n.2256G>A | |
| 16 | g.50712183G>C | CA395871617 | NOD2 | c.2191G>C (p.Ala731Pro) c.2272G>C (p.Ala758Pro) c.1768G>C (p.Ala590Pro) c.1606G>C (p.Ala536Pro) n.2281G>C c.1699G>C (p.Ala567Pro) n.2234G>C n.2256G>C | |
| 16 | g.50712183G>T | CA395871615 | NOD2 | c.2191G>T (p.Ala731Ser) c.2272G>T (p.Ala758Ser) c.1768G>T (p.Ala590Ser) c.1606G>T (p.Ala536Ser) n.2281G>T c.1699G>T (p.Ala567Ser) n.2234G>T n.2256G>T | |
| 16 | g.50712184C>A | CA395871621 | NOD2 | c.2192C>A (p.Ala731Asp) c.2273C>A (p.Ala758Asp) c.1769C>A (p.Ala590Asp) c.1607C>A (p.Ala536Asp) n.2282C>A c.1700C>A (p.Ala567Asp) n.2235C>A n.2257C>A | |
| 16 | g.50712184C= | CA2221862820 | NOD2 | c.2192C= (p.Ala731=) c.2273C= (p.Ala758=) c.1769C= (p.Ala590=) c.1607C= (p.Ala536=) n.2282C= c.1700C= (p.Ala567=) n.2235C= n.2257C= | |
| 16 | g.50712184C>G | CA395871624 | NOD2 | c.2192C>G (p.Ala731Gly) c.2273C>G (p.Ala758Gly) c.1769C>G (p.Ala590Gly) c.1607C>G (p.Ala536Gly) n.2282C>G c.1700C>G (p.Ala567Gly) n.2235C>G n.2257C>G | |
| 16 | g.50712184C>T | CA150253 | NOD2 | c.2192C>T (p.Ala731Val) c.2273C>T (p.Ala758Val) c.1769C>T (p.Ala590Val) c.1607C>T (p.Ala536Val) n.2282C>T c.1700C>T (p.Ala567Val) n.2235C>T n.2257C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712185T>A | CA495779067 | NOD2 | c.2193T>A (p.Ala731=) c.2274T>A (p.Ala758=) c.1770T>A (p.Ala590=) c.1608T>A (p.Ala536=) n.2283T>A c.1701T>A (p.Ala567=) n.2236T>A n.2258T>A | |
| 16 | g.50712185T>C | CA495779068 | NOD2 | c.2193T>C (p.Ala731=) c.2274T>C (p.Ala758=) c.1770T>C (p.Ala590=) c.1608T>C (p.Ala536=) n.2283T>C c.1701T>C (p.Ala567=) n.2236T>C n.2258T>C | gnomAD v4 |
| 16 | g.50712185T>G | CA495779069 | NOD2 | c.2193T>G (p.Ala731=) c.2274T>G (p.Ala758=) c.1770T>G (p.Ala590=) c.1608T>G (p.Ala536=) n.2283T>G c.1701T>G (p.Ala567=) n.2236T>G n.2258T>G | |
| 16 | g.50712186G>A | CA8051746 | NOD2 | c.2194G>A (p.Ala732Thr) c.2275G>A (p.Ala759Thr) c.1771G>A (p.Ala591Thr) c.1609G>A (p.Ala537Thr) n.2284G>A c.1702G>A (p.Ala568Thr) n.2237G>A n.2259G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712186G>C | CA395871628 | NOD2 | c.2194G>C (p.Ala732Pro) c.2275G>C (p.Ala759Pro) c.1771G>C (p.Ala591Pro) c.1609G>C (p.Ala537Pro) n.2284G>C c.1702G>C (p.Ala568Pro) n.2237G>C n.2259G>C | gnomAD v4 |
| 16 | g.50712186G= | CA2221862823 | NOD2 | c.2194G= (p.Ala732=) c.2275G= (p.Ala759=) c.1771G= (p.Ala591=) c.1609G= (p.Ala537=) n.2284G= c.1702G= (p.Ala568=) n.2237G= n.2259G= | |
| 16 | g.50712186G>T | CA395871629 | NOD2 | c.2194G>T (p.Ala732Ser) c.2275G>T (p.Ala759Ser) c.1771G>T (p.Ala591Ser) c.1609G>T (p.Ala537Ser) n.2284G>T c.1702G>T (p.Ala568Ser) n.2237G>T n.2259G>T | |
| 16 | g.50712187C>A | CA395871632 | NOD2 | c.2195C>A (p.Ala732Glu) c.2276C>A (p.Ala759Glu) c.1772C>A (p.Ala591Glu) c.1610C>A (p.Ala537Glu) n.2285C>A c.1703C>A (p.Ala568Glu) n.2238C>A n.2260C>A | gnomAD v4 |
| 16 | g.50712187C>G | CA395871635 | NOD2 | c.2195C>G (p.Ala732Gly) c.2276C>G (p.Ala759Gly) c.1772C>G (p.Ala591Gly) c.1610C>G (p.Ala537Gly) n.2285C>G c.1703C>G (p.Ala568Gly) n.2238C>G n.2260C>G | |
| 16 | g.50712187C>T | CA395871634 | NOD2 | c.2195C>T (p.Ala732Val) c.2276C>T (p.Ala759Val) c.1772C>T (p.Ala591Val) c.1610C>T (p.Ala537Val) n.2285C>T c.1703C>T (p.Ala568Val) n.2238C>T n.2260C>T | gnomAD v4 |
| 16 | g.50712188A>C | CA495779070 | NOD2 | c.2196A>C (p.Ala732=) c.2277A>C (p.Ala759=) c.1773A>C (p.Ala591=) c.1611A>C (p.Ala537=) n.2286A>C c.1704A>C (p.Ala568=) n.2239A>C n.2261A>C | |
| 16 | g.50712188A>G | CA495779071 | NOD2 | c.2196A>G (p.Ala732=) c.2277A>G (p.Ala759=) c.1773A>G (p.Ala591=) c.1611A>G (p.Ala537=) n.2286A>G c.1704A>G (p.Ala568=) n.2239A>G n.2261A>G | gnomAD v4 |
| 16 | g.50712188A>T | CA495779072 | NOD2 | c.2196A>T (p.Ala732=) c.2277A>T (p.Ala759=) c.1773A>T (p.Ala591=) c.1611A>T (p.Ala537=) n.2286A>T c.1704A>T (p.Ala568=) n.2239A>T n.2261A>T | |
| 16 | g.50712189C>A | CA395871638 | NOD2 | c.2197C>A (p.Arg733Ser) c.2278C>A (p.Arg760Ser) c.1774C>A (p.Arg592Ser) c.1612C>A (p.Arg538Ser) n.2287C>A c.1705C>A (p.Arg569Ser) n.2240C>A n.2262C>A | |
| 16 | g.50712189C= | CA2221862827 | NOD2 | c.2197C= (p.Arg733=) c.2278C= (p.Arg760=) c.1774C= (p.Arg592=) c.1612C= (p.Arg538=) n.2287C= c.1705C= (p.Arg569=) n.2240C= n.2262C= | |
| 16 | g.50712189C>G | CA395871639 | NOD2 | c.2197C>G (p.Arg733Gly) c.2278C>G (p.Arg760Gly) c.1774C>G (p.Arg592Gly) c.1612C>G (p.Arg538Gly) n.2287C>G c.1705C>G (p.Arg569Gly) n.2240C>G n.2262C>G | |
| 16 | g.50712189C>T | CA8051747 | NOD2 | c.2197C>T (p.Arg733Cys) c.2278C>T (p.Arg760Cys) c.1774C>T (p.Arg592Cys) c.1612C>T (p.Arg538Cys) n.2287C>T c.1705C>T (p.Arg569Cys) n.2240C>T n.2262C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712190G>A | CA8051748 | NOD2 | c.2198G>A (p.Arg733His) c.2279G>A (p.Arg760His) c.1775G>A (p.Arg592His) c.1613G>A (p.Arg538His) n.2288G>A c.1706G>A (p.Arg569His) n.2241G>A n.2263G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712190G>C | CA395871643 | NOD2 | c.2198G>C (p.Arg733Pro) c.2279G>C (p.Arg760Pro) c.1775G>C (p.Arg592Pro) c.1613G>C (p.Arg538Pro) n.2288G>C c.1706G>C (p.Arg569Pro) n.2241G>C n.2263G>C | |
| 16 | g.50712190G= | CA2221862833 | NOD2 | c.2198G= (p.Arg733=) c.2279G= (p.Arg760=) c.1775G= (p.Arg592=) c.1613G= (p.Arg538=) n.2288G= c.1706G= (p.Arg569=) n.2241G= n.2263G= | |
| 16 | g.50712190G>T | CA395871645 | NOD2 | c.2198G>T (p.Arg733Leu) c.2279G>T (p.Arg760Leu) c.1775G>T (p.Arg592Leu) c.1613G>T (p.Arg538Leu) n.2288G>T c.1706G>T (p.Arg569Leu) n.2241G>T n.2263G>T | |
| 16 | g.50712191T>A | CA495779075 | NOD2 | c.2199T>A (p.Arg733=) c.2280T>A (p.Arg760=) c.1776T>A (p.Arg592=) c.1614T>A (p.Arg538=) n.2289T>A c.1707T>A (p.Arg569=) n.2242T>A n.2264T>A | |
| 16 | g.50712191T>C | CA495779074 | NOD2 | c.2199T>C (p.Arg733=) c.2280T>C (p.Arg760=) c.1776T>C (p.Arg592=) c.1614T>C (p.Arg538=) n.2289T>C c.1707T>C (p.Arg569=) n.2242T>C n.2264T>C | |
| 16 | g.50712191T>G | CA495779073 | NOD2 | c.2199T>G (p.Arg733=) c.2280T>G (p.Arg760=) c.1776T>G (p.Arg592=) c.1614T>G (p.Arg538=) n.2289T>G c.1707T>G (p.Arg569=) n.2242T>G n.2264T>G |