| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 16 | g.50712192G>A | CA395871647 | NOD2 | c.2200G>A (p.Gly734Ser) c.2281G>A (p.Gly761Ser) c.1777G>A (p.Gly593Ser) c.1615G>A (p.Gly539Ser) n.2290G>A c.1708G>A (p.Gly570Ser) n.2243G>A n.2265G>A | gnomAD v4 |
| 16 | g.50712192G>C | CA395871649 | NOD2 | c.2200G>C (p.Gly734Arg) c.2281G>C (p.Gly761Arg) c.1777G>C (p.Gly593Arg) c.1615G>C (p.Gly539Arg) n.2290G>C c.1708G>C (p.Gly570Arg) n.2243G>C n.2265G>C | |
| 16 | g.50712192G>T | CA395871651 | NOD2 | c.2200G>T (p.Gly734Cys) c.2281G>T (p.Gly761Cys) c.1777G>T (p.Gly593Cys) c.1615G>T (p.Gly539Cys) n.2290G>T c.1708G>T (p.Gly570Cys) n.2243G>T n.2265G>T | |
| 16 | g.50712193G>A | CA395871653 | NOD2 | c.2201G>A (p.Gly734Asp) c.2282G>A (p.Gly761Asp) c.1778G>A (p.Gly593Asp) c.1616G>A (p.Gly539Asp) n.2291G>A c.1709G>A (p.Gly570Asp) n.2244G>A n.2266G>A | |
| 16 | g.50712193G>C | CA395871655 | NOD2 | c.2201G>C (p.Gly734Ala) c.2282G>C (p.Gly761Ala) c.1778G>C (p.Gly593Ala) c.1616G>C (p.Gly539Ala) n.2291G>C c.1709G>C (p.Gly570Ala) n.2244G>C n.2266G>C | |
| 16 | g.50712193G>T | CA395871657 | NOD2 | c.2201G>T (p.Gly734Val) c.2282G>T (p.Gly761Val) c.1778G>T (p.Gly593Val) c.1616G>T (p.Gly539Val) n.2291G>T c.1709G>T (p.Gly570Val) n.2244G>T n.2266G>T | |
| 16 | g.50712194C>A | CA495779076 | NOD2 | c.2202C>A (p.Gly734=) c.1C>A c.2283C>A (p.Gly761=) c.1779C>A (p.Gly593=) c.1617C>A (p.Gly539=) n.2292C>A c.1710C>A (p.Gly570=) n.2245C>A n.2267C>A | |
| 16 | g.50712194C>G | CA495779077 | NOD2 | c.2202C>G (p.Gly734=) c.1C>G c.2283C>G (p.Gly761=) c.1779C>G (p.Gly593=) c.1617C>G (p.Gly539=) n.2292C>G c.1710C>G (p.Gly570=) n.2245C>G n.2267C>G | |
| 16 | g.50712194C>T | CA495779078 | NOD2 | c.2202C>T (p.Gly734=) c.1C>T c.2283C>T (p.Gly761=) c.1779C>T (p.Gly593=) c.1617C>T (p.Gly539=) n.2292C>T c.1710C>T (p.Gly570=) n.2245C>T n.2267C>T | gnomAD v4 |
| 16 | g.50712195C>A | CA395871661 | NOD2 | c.2203C>A (p.Leu735Met) c.2C>A c.2284C>A (p.Leu762Met) c.1780C>A (p.Leu594Met) c.1618C>A (p.Leu540Met) n.2293C>A c.1711C>A (p.Leu571Met) n.2246C>A n.2268C>A | |
| 16 | g.50712195C= | CA2221862839 | NOD2 | c.2203C= (p.Leu735=) c.2C= c.2284C= (p.Leu762=) c.1780C= (p.Leu594=) c.1618C= (p.Leu540=) n.2293C= c.1711C= (p.Leu571=) n.2246C= n.2268C= | |
| 16 | g.50712195C>G | CA395871659 | NOD2 | c.2203C>G (p.Leu735Val) c.2C>G c.2284C>G (p.Leu762Val) c.1780C>G (p.Leu594Val) c.1618C>G (p.Leu540Val) n.2293C>G c.1711C>G (p.Leu571Val) n.2246C>G n.2268C>G | |
| 16 | g.50712195C>T | CA281264296 | NOD2 | c.2203C>T (p.Leu735=) c.2C>T c.2284C>T (p.Leu762=) c.1780C>T (p.Leu594=) c.1618C>T (p.Leu540=) n.2293C>T c.1711C>T (p.Leu571=) n.2246C>T n.2268C>T | dbSNP gnomAD v4 |
| 16 | g.50712196T>A | CA395871663 | NOD2 | c.2204T>A (p.Leu735Gln) c.3T>A c.2285T>A (p.Leu762Gln) c.1781T>A (p.Leu594Gln) c.1619T>A (p.Leu540Gln) n.2294T>A c.1712T>A (p.Leu571Gln) n.2247T>A n.2269T>A | gnomAD v4 |
| 16 | g.50712196T>C | CA395871666 | NOD2 | c.2204T>C (p.Leu735Pro) c.3T>C c.2285T>C (p.Leu762Pro) c.1781T>C (p.Leu594Pro) c.1619T>C (p.Leu540Pro) n.2294T>C c.1712T>C (p.Leu571Pro) n.2247T>C n.2269T>C | |
| 16 | g.50712196T>G | CA395871664 | NOD2 | c.2204T>G (p.Leu735Arg) c.3T>G c.2285T>G (p.Leu762Arg) c.1781T>G (p.Leu594Arg) c.1619T>G (p.Leu540Arg) n.2294T>G c.1712T>G (p.Leu571Arg) n.2247T>G n.2269T>G | |
| 16 | g.50712197G>A | CA495779079 | NOD2 | c.2205G>A (p.Leu735=) c.4G>A c.2286G>A (p.Leu762=) c.1782G>A (p.Leu594=) c.1620G>A (p.Leu540=) n.2295G>A c.1713G>A (p.Leu571=) n.2248G>A n.2270G>A | |
| 16 | g.50712197G>C | CA495779081 | NOD2 | c.2205G>C (p.Leu735=) c.4G>C c.2286G>C (p.Leu762=) c.1782G>C (p.Leu594=) c.1620G>C (p.Leu540=) n.2295G>C c.1713G>C (p.Leu571=) n.2248G>C n.2270G>C | |
| 16 | g.50712197G>T | CA495779080 | NOD2 | c.2205G>T (p.Leu735=) c.4G>T c.2286G>T (p.Leu762=) c.1782G>T (p.Leu594=) c.1620G>T (p.Leu540=) n.2295G>T c.1713G>T (p.Leu571=) n.2248G>T n.2270G>T | |
| 16 | g.50712198A= | CA2221862842 | NOD2 | c.2206A= (p.Asn736=) c.5A= c.2287A= (p.Asn763=) c.1783A= (p.Asn595=) c.1621A= (p.Asn541=) n.2296A= c.1714A= (p.Asn572=) n.2249A= n.2271A= | |
| 16 | g.50712198A>C | CA395871667 | NOD2 | c.2206A>C (p.Asn736His) c.5A>C c.2287A>C (p.Asn763His) c.1783A>C (p.Asn595His) c.1621A>C (p.Asn541His) n.2296A>C c.1714A>C (p.Asn572His) n.2249A>C n.2271A>C | dbSNP |
| 16 | g.50712198A>G | CA395871671 | NOD2 | c.2206A>G (p.Asn736Asp) c.5A>G c.2287A>G (p.Asn763Asp) c.1783A>G (p.Asn595Asp) c.1621A>G (p.Asn541Asp) n.2296A>G c.1714A>G (p.Asn572Asp) n.2249A>G n.2271A>G | |
| 16 | g.50712198A>T | CA395871668 | NOD2 | c.2206A>T (p.Asn736Tyr) c.5A>T c.2287A>T (p.Asn763Tyr) c.1783A>T (p.Asn595Tyr) c.1621A>T (p.Asn541Tyr) n.2296A>T c.1714A>T (p.Asn572Tyr) n.2249A>T n.2271A>T | |
| 16 | g.50712199A>C | CA395871673 | NOD2 | c.2207A>C (p.Asn736Thr) c.6A>C c.2288A>C (p.Asn763Thr) c.1784A>C (p.Asn595Thr) c.1622A>C (p.Asn541Thr) n.2297A>C c.1715A>C (p.Asn572Thr) n.2250A>C n.2272A>C | |
| 16 | g.50712199A>G | CA395871675 | NOD2 | c.2207A>G (p.Asn736Ser) c.6A>G c.2288A>G (p.Asn763Ser) c.1784A>G (p.Asn595Ser) c.1622A>G (p.Asn541Ser) n.2297A>G c.1715A>G (p.Asn572Ser) n.2250A>G n.2272A>G | |
| 16 | g.50712199A>T | CA395871677 | NOD2 | c.2207A>T (p.Asn736Ile) c.6A>T c.2288A>T (p.Asn763Ile) c.1784A>T (p.Asn595Ile) c.1622A>T (p.Asn541Ile) n.2297A>T c.1715A>T (p.Asn572Ile) n.2250A>T n.2272A>T | |
| 16 | g.50712200T>A | CA395871680 | NOD2 | c.2208T>A (p.Asn736Lys) c.7T>A c.2289T>A (p.Asn763Lys) c.1785T>A (p.Asn595Lys) c.1623T>A (p.Asn541Lys) n.2298T>A c.1716T>A (p.Asn572Lys) n.2251T>A n.2273T>A | |
| 16 | g.50712200T>C | CA8051750 | NOD2 | c.2208T>C (p.Asn736=) c.7T>C c.2289T>C (p.Asn763=) c.1785T>C (p.Asn595=) c.1623T>C (p.Asn541=) n.2298T>C c.1716T>C (p.Asn572=) n.2251T>C n.2273T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712200T>G | CA8051749 | NOD2 | c.2208T>G (p.Asn736Lys) c.7T>G c.2289T>G (p.Asn763Lys) c.1785T>G (p.Asn595Lys) c.1623T>G (p.Asn541Lys) n.2298T>G c.1716T>G (p.Asn572Lys) n.2251T>G n.2273T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712200T= | CA2221862846 | NOD2 | c.2208T= (p.Asn736=) c.7T= c.2289T= (p.Asn763=) c.1785T= (p.Asn595=) c.1623T= (p.Asn541=) n.2298T= c.1716T= (p.Asn572=) n.2251T= n.2273T= | |
| 16 | g.50712201G>A | CA281264310 | NOD2 | c.2209G>A (p.Val737Ile) c.8G>A c.2290G>A (p.Val764Ile) c.1786G>A (p.Val596Ile) c.1624G>A (p.Val542Ile) n.2299G>A c.1717G>A (p.Val573Ile) n.2252G>A n.2274G>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.50712201G>C | CA395871685 | NOD2 | c.2209G>C (p.Val737Leu) c.8G>C c.2290G>C (p.Val764Leu) c.1786G>C (p.Val596Leu) c.1624G>C (p.Val542Leu) n.2299G>C c.1717G>C (p.Val573Leu) n.2252G>C n.2274G>C | |
| 16 | g.50712201G= | CA2221862848 | NOD2 | c.2209G= (p.Val737=) c.8G= c.2290G= (p.Val764=) c.1786G= (p.Val596=) c.1624G= (p.Val542=) n.2299G= c.1717G= (p.Val573=) n.2252G= n.2274G= | |
| 16 | g.50712201G>T | CA395871687 | NOD2 | c.2209G>T (p.Val737Phe) c.8G>T c.2290G>T (p.Val764Phe) c.1786G>T (p.Val596Phe) c.1624G>T (p.Val542Phe) n.2299G>T c.1717G>T (p.Val573Phe) n.2252G>T n.2274G>T | |
| 16 | g.50712202T>A | CA395871689 | NOD2 | c.2210T>A (p.Val737Asp) c.9T>A c.2291T>A (p.Val764Asp) c.1787T>A (p.Val596Asp) c.1625T>A (p.Val542Asp) n.2300T>A c.1718T>A (p.Val573Asp) n.2253T>A n.2275T>A | |
| 16 | g.50712202T>C | CA395871691 | NOD2 | c.2210T>C (p.Val737Ala) c.9T>C c.2291T>C (p.Val764Ala) c.1787T>C (p.Val596Ala) c.1625T>C (p.Val542Ala) n.2300T>C c.1718T>C (p.Val573Ala) n.2253T>C n.2275T>C | |
| 16 | g.50712202T>G | CA395871693 | NOD2 | c.2210T>G (p.Val737Gly) c.9T>G c.2291T>G (p.Val764Gly) c.1787T>G (p.Val596Gly) c.1625T>G (p.Val542Gly) n.2300T>G c.1718T>G (p.Val573Gly) n.2253T>G n.2275T>G | |
| 16 | g.50712203T>A | CA495779082 | NOD2 | c.2211T>A (p.Val737=) c.10T>A c.2292T>A (p.Val764=) c.1788T>A (p.Val596=) c.1626T>A (p.Val542=) n.2301T>A c.1719T>A (p.Val573=) n.2254T>A n.2276T>A | |
| 16 | g.50712203T>C | CA495779084 | NOD2 | c.2211T>C (p.Val737=) c.10T>C c.2292T>C (p.Val764=) c.1788T>C (p.Val596=) c.1626T>C (p.Val542=) n.2301T>C c.1719T>C (p.Val573=) n.2254T>C n.2276T>C | dbSNP gnomAD v4 |
| 16 | g.50712203T>G | CA495779083 | NOD2 | c.2211T>G (p.Val737=) c.10T>G c.2292T>G (p.Val764=) c.1788T>G (p.Val596=) c.1626T>G (p.Val542=) n.2301T>G c.1719T>G (p.Val573=) n.2254T>G n.2276T>G | |
| 16 | g.50712204G>A | CA395871695 | NOD2 | c.2212G>A (p.Gly738Arg) c.11G>A c.2293G>A (p.Gly765Arg) c.1789G>A (p.Gly597Arg) c.1627G>A (p.Gly543Arg) n.2302G>A c.1720G>A (p.Gly574Arg) n.2255G>A n.2277G>A | |
| 16 | g.50712204G>C | CA395871699 | NOD2 | c.2212G>C (p.Gly738Arg) c.11G>C c.2293G>C (p.Gly765Arg) c.1789G>C (p.Gly597Arg) c.1627G>C (p.Gly543Arg) n.2302G>C c.1720G>C (p.Gly574Arg) n.2255G>C n.2277G>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712204G= | CA2221862853 | NOD2 | c.2212G= (p.Gly738=) c.11G= c.2293G= (p.Gly765=) c.1789G= (p.Gly597=) c.1627G= (p.Gly543=) n.2302G= c.1720G= (p.Gly574=) n.2255G= n.2277G= | |
| 16 | g.50712204G>T | CA395871697 | NOD2 | c.2212G>T (p.Gly738Trp) c.11G>T c.2293G>T (p.Gly765Trp) c.1789G>T (p.Gly597Trp) c.1627G>T (p.Gly543Trp) n.2302G>T c.1720G>T (p.Gly574Trp) n.2255G>T n.2277G>T | |
| 16 | g.50712205G>A | CA395871700 | NOD2 | c.2213G>A (p.Gly738Glu) c.12G>A c.2294G>A (p.Gly765Glu) c.1790G>A (p.Gly597Glu) c.1628G>A (p.Gly543Glu) n.2303G>A c.1721G>A (p.Gly574Glu) n.2256G>A n.2278G>A | |
| 16 | g.50712205G>C | CA395871702 | NOD2 | c.2213G>C (p.Gly738Ala) c.12G>C c.2294G>C (p.Gly765Ala) c.1790G>C (p.Gly597Ala) c.1628G>C (p.Gly543Ala) n.2303G>C c.1721G>C (p.Gly574Ala) n.2256G>C n.2278G>C | |
| 16 | g.50712205G>T | CA395871704 | NOD2 | c.2213G>T (p.Gly738Val) c.12G>T c.2294G>T (p.Gly765Val) c.1790G>T (p.Gly597Val) c.1628G>T (p.Gly543Val) n.2303G>T c.1721G>T (p.Gly574Val) n.2256G>T n.2278G>T | |
| 16 | g.50712206G>A | CA495779085 | NOD2 | c.2214G>A (p.Gly738=) c.13G>A c.2295G>A (p.Gly765=) c.1791G>A (p.Gly597=) c.1629G>A (p.Gly543=) n.2304G>A c.1722G>A (p.Gly574=) n.2257G>A n.2279G>A | gnomAD v4 |
| 16 | g.50712206G>C | CA495779086 | NOD2 | c.2214G>C (p.Gly738=) c.13G>C c.2295G>C (p.Gly765=) c.1791G>C (p.Gly597=) c.1629G>C (p.Gly543=) n.2304G>C c.1722G>C (p.Gly574=) n.2257G>C n.2279G>C | |
| 16 | g.50712206G>T | CA495779087 | NOD2 | c.2214G>T (p.Gly738=) c.13G>T c.2295G>T (p.Gly765=) c.1791G>T (p.Gly597=) c.1629G>T (p.Gly543=) n.2304G>T c.1722G>T (p.Gly574=) n.2257G>T n.2279G>T | |
| 16 | g.50712207C>A | CA395871706 | NOD2 | c.2215C>A (p.His739Asn) c.14C>A c.2296C>A (p.His766Asn) c.1792C>A (p.His598Asn) c.1630C>A (p.His544Asn) n.2305C>A c.1723C>A (p.His575Asn) n.2258C>A n.2280C>A | |
| 16 | g.50712207C>G | CA395871708 | NOD2 | c.2215C>G (p.His739Asp) c.14C>G c.2296C>G (p.His766Asp) c.1792C>G (p.His598Asp) c.1630C>G (p.His544Asp) n.2305C>G c.1723C>G (p.His575Asp) n.2258C>G n.2280C>G | |
| 16 | g.50712207C>T | CA395871710 | NOD2 | c.2215C>T (p.His739Tyr) c.14C>T c.2296C>T (p.His766Tyr) c.1792C>T (p.His598Tyr) c.1630C>T (p.His544Tyr) n.2305C>T c.1723C>T (p.His575Tyr) n.2258C>T n.2280C>T | |
| 16 | g.50712208A= | CA2221862855 | NOD2 | c.2216A= (p.His739=) c.15A= c.2297A= (p.His766=) c.1793A= (p.His598=) c.1631A= (p.His544=) n.2306A= c.1724A= (p.His575=) n.2259A= n.2281A= | |
| 16 | g.50712208A>C | CA395871713 | NOD2 | c.2216A>C (p.His739Pro) c.15A>C c.2297A>C (p.His766Pro) c.1793A>C (p.His598Pro) c.1631A>C (p.His544Pro) n.2306A>C c.1724A>C (p.His575Pro) n.2259A>C n.2281A>C | |
| 16 | g.50712208A>G | CA395871715 | NOD2 | c.2216A>G (p.His739Arg) c.15A>G c.2297A>G (p.His766Arg) c.1793A>G (p.His598Arg) c.1631A>G (p.His544Arg) n.2306A>G c.1724A>G (p.His575Arg) n.2259A>G n.2281A>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.50712208A>T | CA395871716 | NOD2 | c.2216A>T (p.His739Leu) c.15A>T c.2297A>T (p.His766Leu) c.1793A>T (p.His598Leu) c.1631A>T (p.His544Leu) n.2306A>T c.1724A>T (p.His575Leu) n.2259A>T n.2281A>T | |
| 16 | g.50712209C>A | CA395871722 | NOD2 | c.2217C>A (p.His739Gln) c.16C>A c.2298C>A (p.His766Gln) c.1794C>A (p.His598Gln) c.1632C>A (p.His544Gln) n.2307C>A c.1725C>A (p.His575Gln) n.2260C>A n.2282C>A | dbSNP |
| 16 | g.50712209C= | CA2221862858 | NOD2 | c.2217C= (p.His739=) c.16C= c.2298C= (p.His766=) c.1794C= (p.His598=) c.1632C= (p.His544=) n.2307C= c.1725C= (p.His575=) n.2260C= n.2282C= | |
| 16 | g.50712209C>G | CA395871720 | NOD2 | c.2217C>G (p.His739Gln) c.16C>G c.2298C>G (p.His766Gln) c.1794C>G (p.His598Gln) c.1632C>G (p.His544Gln) n.2307C>G c.1725C>G (p.His575Gln) n.2260C>G n.2282C>G | |
| 16 | g.50712209C>T | CA8051751 | NOD2 | c.2217C>T (p.His739=) c.16C>T c.2298C>T (p.His766=) c.1794C>T (p.His598=) c.1632C>T (p.His544=) n.2307C>T c.1725C>T (p.His575=) n.2260C>T n.2282C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712210C>A | CA395871724 | NOD2 | c.2218C>A (p.Leu740Ile) c.17C>A c.2299C>A (p.Leu767Ile) c.1795C>A (p.Leu599Ile) c.1633C>A (p.Leu545Ile) n.2308C>A c.1726C>A (p.Leu576Ile) n.2261C>A n.2283C>A | |
| 16 | g.50712210C= | CA2221862860 | NOD2 | c.2218C= (p.Leu740=) c.17C= c.2299C= (p.Leu767=) c.1795C= (p.Leu599=) c.1633C= (p.Leu545=) n.2308C= c.1726C= (p.Leu576=) n.2261C= n.2283C= | |
| 16 | g.50712210C>G | CA395871725 | NOD2 | c.2218C>G (p.Leu740Val) c.17C>G c.2299C>G (p.Leu767Val) c.1795C>G (p.Leu599Val) c.1633C>G (p.Leu545Val) n.2308C>G c.1726C>G (p.Leu576Val) n.2261C>G n.2283C>G | |
| 16 | g.50712210C>T | CA8051752 | NOD2 | c.2218C>T (p.Leu740Phe) c.17C>T c.2299C>T (p.Leu767Phe) c.1795C>T (p.Leu599Phe) c.1633C>T (p.Leu545Phe) n.2308C>T c.1726C>T (p.Leu576Phe) n.2261C>T n.2283C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712211T>A | CA395871727 | NOD2 | c.2219T>A (p.Leu740His) c.18T>A c.2300T>A (p.Leu767His) c.1796T>A (p.Leu599His) c.1634T>A (p.Leu545His) n.2309T>A c.1727T>A (p.Leu576His) n.2262T>A n.2284T>A | |
| 16 | g.50712211T>C | CA395871728 | NOD2 | c.2219T>C (p.Leu740Pro) c.18T>C c.2300T>C (p.Leu767Pro) c.1796T>C (p.Leu599Pro) c.1634T>C (p.Leu545Pro) n.2309T>C c.1727T>C (p.Leu576Pro) n.2262T>C n.2284T>C | gnomAD v4 |
| 16 | g.50712211T>G | CA395871730 | NOD2 | c.2219T>G (p.Leu740Arg) c.18T>G c.2300T>G (p.Leu767Arg) c.1796T>G (p.Leu599Arg) c.1634T>G (p.Leu545Arg) n.2309T>G c.1727T>G (p.Leu576Arg) n.2262T>G n.2284T>G | |
| 16 | g.50712212C>A | CA495779091 | NOD2 | c.2220C>A (p.Leu740=) c.19C>A c.2301C>A (p.Leu767=) c.1797C>A (p.Leu599=) c.1635C>A (p.Leu545=) n.2310C>A c.1728C>A (p.Leu576=) n.2263C>A n.2285C>A | |
| 16 | g.50712212C>G | CA495779089 | NOD2 | c.2220C>G (p.Leu740=) c.19C>G c.2301C>G (p.Leu767=) c.1797C>G (p.Leu599=) c.1635C>G (p.Leu545=) n.2310C>G c.1728C>G (p.Leu576=) n.2263C>G n.2285C>G | |
| 16 | g.50712212C>T | CA495779090 | NOD2 | c.2220C>T (p.Leu740=) c.19C>T c.2301C>T (p.Leu767=) c.1797C>T (p.Leu599=) c.1635C>T (p.Leu545=) n.2310C>T c.1728C>T (p.Leu576=) n.2263C>T n.2285C>T | gnomAD v4 |
| 16 | g.50712213A>C | CA395871733 | NOD2 | c.2221A>C (p.Lys741Gln) c.20A>C c.2302A>C (p.Lys768Gln) c.1798A>C (p.Lys600Gln) c.1636A>C (p.Lys546Gln) n.2311A>C c.1729A>C (p.Lys577Gln) n.2264A>C n.2286A>C | |
| 16 | g.50712213A>G | CA395871734 | NOD2 | c.2221A>G (p.Lys741Glu) c.20A>G c.2302A>G (p.Lys768Glu) c.1798A>G (p.Lys600Glu) c.1636A>G (p.Lys546Glu) n.2311A>G c.1729A>G (p.Lys577Glu) n.2264A>G n.2286A>G | gnomAD v4 |
| 16 | g.50712213A>T | CA395871736 | NOD2 | c.2221A>T (p.Lys741Ter) c.20A>T c.2302A>T (p.Lys768Ter) c.1798A>T (p.Lys600Ter) c.1636A>T (p.Lys546Ter) n.2311A>T c.1729A>T (p.Lys577Ter) n.2264A>T n.2286A>T | |
| 16 | g.50712214A= | CA2221862863 | NOD2 | c.2222A= (p.Lys741=) c.21A= c.2303A= (p.Lys768=) c.1799A= (p.Lys600=) c.1637A= (p.Lys546=) n.2312A= c.1730A= (p.Lys577=) n.2265A= n.2287A= | |
| 16 | g.50712214A>C | CA395871739 | NOD2 | c.2222A>C (p.Lys741Thr) c.21A>C c.2303A>C (p.Lys768Thr) c.1799A>C (p.Lys600Thr) c.1637A>C (p.Lys546Thr) n.2312A>C c.1730A>C (p.Lys577Thr) n.2265A>C n.2287A>C | gnomAD v4 |
| 16 | g.50712214A>G | CA395871740 | NOD2 | c.2222A>G (p.Lys741Arg) c.21A>G c.2303A>G (p.Lys768Arg) c.1799A>G (p.Lys600Arg) c.1637A>G (p.Lys546Arg) n.2312A>G c.1730A>G (p.Lys577Arg) n.2265A>G n.2287A>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.50712214A>T | CA395871741 | NOD2 | c.2222A>T (p.Lys741Met) c.21A>T c.2303A>T (p.Lys768Met) c.1799A>T (p.Lys600Met) c.1637A>T (p.Lys546Met) n.2312A>T c.1730A>T (p.Lys577Met) n.2265A>T n.2287A>T | |
| 16 | g.50712215G>A | CA495779092 | NOD2 | c.2223G>A (p.Lys741=) c.22G>A c.2304G>A (p.Lys768=) c.1800G>A (p.Lys600=) c.1638G>A (p.Lys546=) n.2313G>A c.1731G>A (p.Lys577=) n.2266G>A n.2288G>A | ClinVar dbSNP |
| 16 | g.50712215G>C | CA395871744 | NOD2 | c.2223G>C (p.Lys741Asn) c.22G>C c.2304G>C (p.Lys768Asn) c.1800G>C (p.Lys600Asn) c.1638G>C (p.Lys546Asn) n.2313G>C c.1731G>C (p.Lys577Asn) n.2266G>C n.2288G>C | |
| 16 | g.50712215G= | CA2221862867 | NOD2 | c.2223G= (p.Lys741=) c.22G= c.2304G= (p.Lys768=) c.1800G= (p.Lys600=) c.1638G= (p.Lys546=) n.2313G= c.1731G= (p.Lys577=) n.2266G= n.2288G= | |
| 16 | g.50712215G>T | CA395871742 | NOD2 | c.2223G>T (p.Lys741Asn) c.22G>T c.2304G>T (p.Lys768Asn) c.1800G>T (p.Lys600Asn) c.1638G>T (p.Lys546Asn) n.2313G>T c.1731G>T (p.Lys577Asn) n.2266G>T n.2288G>T | |
| 16 | g.50712216T>A | CA395871746 | NOD2 | c.2224T>A (p.Leu742Met) c.23T>A c.2305T>A (p.Leu769Met) c.1801T>A (p.Leu601Met) c.1639T>A (p.Leu547Met) n.2314T>A c.1732T>A (p.Leu578Met) n.2267T>A n.2289T>A | gnomAD v4 |
| 16 | g.50712216T>C | CA495779094 | NOD2 | c.2224T>C (p.Leu742=) c.23T>C c.2305T>C (p.Leu769=) c.1801T>C (p.Leu601=) c.1639T>C (p.Leu547=) n.2314T>C c.1732T>C (p.Leu578=) n.2267T>C n.2289T>C | gnomAD v4 |
| 16 | g.50712216T>G | CA395871748 | NOD2 | c.2224T>G (p.Leu742Val) c.23T>G c.2305T>G (p.Leu769Val) c.1801T>G (p.Leu601Val) c.1639T>G (p.Leu547Val) n.2314T>G c.1732T>G (p.Leu578Val) n.2267T>G n.2289T>G | |
| 16 | g.50712217T>A | CA395871750 | NOD2 | c.2225T>A (p.Leu742Ter) c.24T>A c.2306T>A (p.Leu769Ter) c.1802T>A (p.Leu601Ter) c.1640T>A (p.Leu547Ter) n.2315T>A c.1733T>A (p.Leu578Ter) n.2268T>A n.2290T>A | |
| 16 | g.50712217T>C | CA395871752 | NOD2 | c.2225T>C (p.Leu742Ser) c.24T>C c.2306T>C (p.Leu769Ser) c.1802T>C (p.Leu601Ser) c.1640T>C (p.Leu547Ser) n.2315T>C c.1733T>C (p.Leu578Ser) n.2268T>C n.2290T>C | |
| 16 | g.50712217T>G | CA395871753 | NOD2 | c.2225T>G (p.Leu742Trp) c.24T>G c.2306T>G (p.Leu769Trp) c.1802T>G (p.Leu601Trp) c.1640T>G (p.Leu547Trp) n.2315T>G c.1733T>G (p.Leu578Trp) n.2268T>G n.2290T>G | |
| 16 | g.50712218G>A | CA495779095 | NOD2 | c.2226G>A (p.Leu742=) c.25G>A c.2307G>A (p.Leu769=) c.1803G>A (p.Leu601=) c.1641G>A (p.Leu547=) n.2316G>A c.1734G>A (p.Leu578=) n.2269G>A n.2291G>A | |
| 16 | g.50712218G>C | CA395871755 | NOD2 | c.2226G>C (p.Leu742Phe) c.25G>C c.2307G>C (p.Leu769Phe) c.1803G>C (p.Leu601Phe) c.1641G>C (p.Leu547Phe) n.2316G>C c.1734G>C (p.Leu578Phe) n.2269G>C n.2291G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712218G= | CA2221862870 | NOD2 | c.2226G= (p.Leu742=) c.25G= c.2307G= (p.Leu769=) c.1803G= (p.Leu601=) c.1641G= (p.Leu547=) n.2316G= c.1734G= (p.Leu578=) n.2269G= n.2291G= | |
| 16 | g.50712218G>T | CA395871757 | NOD2 | c.2226G>T (p.Leu742Phe) c.25G>T c.2307G>T (p.Leu769Phe) c.1803G>T (p.Leu601Phe) c.1641G>T (p.Leu547Phe) n.2316G>T c.1734G>T (p.Leu578Phe) n.2269G>T n.2291G>T | gnomAD v4 |
| 16 | g.50712219A>C | CA395871759 | NOD2 | c.2227A>C (p.Thr743Pro) c.26A>C c.2308A>C (p.Thr770Pro) c.1804A>C (p.Thr602Pro) c.1642A>C (p.Thr548Pro) n.2317A>C c.1735A>C (p.Thr579Pro) n.2270A>C n.2292A>C | |
| 16 | g.50712219A>G | CA395871761 | NOD2 | c.2227A>G (p.Thr743Ala) c.26A>G c.2308A>G (p.Thr770Ala) c.1804A>G (p.Thr602Ala) c.1642A>G (p.Thr548Ala) n.2317A>G c.1735A>G (p.Thr579Ala) n.2270A>G n.2292A>G | |
| 16 | g.50712219A>T | CA395871762 | NOD2 | c.2227A>T (p.Thr743Ser) c.26A>T c.2308A>T (p.Thr770Ser) c.1804A>T (p.Thr602Ser) c.1642A>T (p.Thr548Ser) n.2317A>T c.1735A>T (p.Thr579Ser) n.2270A>T n.2292A>T | |
| 16 | g.50712220C>A | CA395871765 | NOD2 | c.2228C>A (p.Thr743Lys) c.27C>A c.2309C>A (p.Thr770Lys) c.1805C>A (p.Thr602Lys) c.1643C>A (p.Thr548Lys) n.2318C>A c.1736C>A (p.Thr579Lys) n.2271C>A n.2293C>A | |
| 16 | g.50712220C>G | CA395871767 | NOD2 | c.2228C>G (p.Thr743Arg) c.27C>G c.2309C>G (p.Thr770Arg) c.1805C>G (p.Thr602Arg) c.1643C>G (p.Thr548Arg) n.2318C>G c.1736C>G (p.Thr579Arg) n.2271C>G n.2293C>G | |
| 16 | g.50712220C>T | CA395871769 | NOD2 | c.2228C>T (p.Thr743Ile) c.27C>T c.2309C>T (p.Thr770Ile) c.1805C>T (p.Thr602Ile) c.1643C>T (p.Thr548Ile) n.2318C>T c.1736C>T (p.Thr579Ile) n.2271C>T n.2293C>T | |
| 16 | g.50712221A>C | CA495779100 | NOD2 | c.2229A>C (p.Thr743=) c.28A>C c.2310A>C (p.Thr770=) c.1806A>C (p.Thr602=) c.1644A>C (p.Thr548=) n.2319A>C c.1737A>C (p.Thr579=) n.2272A>C n.2294A>C | |
| 16 | g.50712221A>G | CA495779101 | NOD2 | c.2229A>G (p.Thr743=) c.28A>G c.2310A>G (p.Thr770=) c.1806A>G (p.Thr602=) c.1644A>G (p.Thr548=) n.2319A>G c.1737A>G (p.Thr579=) n.2272A>G n.2294A>G | |
| 16 | g.50712221A>T | CA495779102 | NOD2 | c.2229A>T (p.Thr743=) c.28A>T c.2310A>T (p.Thr770=) c.1806A>T (p.Thr602=) c.1644A>T (p.Thr548=) n.2319A>T c.1737A>T (p.Thr579=) n.2272A>T n.2294A>T | |
| 16 | g.50712222T>A | CA395871773 | NOD2 | c.2230T>A (p.Phe744Ile) c.29T>A c.2311T>A (p.Phe771Ile) c.1807T>A (p.Phe603Ile) c.1645T>A (p.Phe549Ile) n.2320T>A c.1738T>A (p.Phe580Ile) n.2273T>A n.2295T>A | ClinVar gnomAD v4 |
| 16 | g.50712222T>C | CA395871775 | NOD2 | c.2230T>C (p.Phe744Leu) c.29T>C c.2311T>C (p.Phe771Leu) c.1807T>C (p.Phe603Leu) c.1645T>C (p.Phe549Leu) n.2320T>C c.1738T>C (p.Phe580Leu) n.2273T>C n.2295T>C | |
| 16 | g.50712222T>G | CA395871771 | NOD2 | c.2230T>G (p.Phe744Val) c.29T>G c.2311T>G (p.Phe771Val) c.1807T>G (p.Phe603Val) c.1645T>G (p.Phe549Val) n.2320T>G c.1738T>G (p.Phe580Val) n.2273T>G n.2295T>G | |
| 16 | g.50712223T>A | CA395871777 | NOD2 | c.2231T>A (p.Phe744Tyr) c.30T>A c.2312T>A (p.Phe771Tyr) c.1808T>A (p.Phe603Tyr) c.1646T>A (p.Phe549Tyr) n.2321T>A c.1739T>A (p.Phe580Tyr) n.2274T>A n.2296T>A | |
| 16 | g.50712223T>C | CA395871779 | NOD2 | c.2231T>C (p.Phe744Ser) c.30T>C c.2312T>C (p.Phe771Ser) c.1808T>C (p.Phe603Ser) c.1646T>C (p.Phe549Ser) n.2321T>C c.1739T>C (p.Phe580Ser) n.2274T>C n.2296T>C | |
| 16 | g.50712223T>G | CA395871781 | NOD2 | c.2231T>G (p.Phe744Cys) c.30T>G c.2312T>G (p.Phe771Cys) c.1808T>G (p.Phe603Cys) c.1646T>G (p.Phe549Cys) n.2321T>G c.1739T>G (p.Phe580Cys) n.2274T>G n.2296T>G | |
| 16 | g.50712224T>A | CA395871783 | NOD2 | c.2232T>A (p.Phe744Leu) c.31T>A c.2313T>A (p.Phe771Leu) c.1809T>A (p.Phe603Leu) c.1647T>A (p.Phe549Leu) n.2322T>A c.1740T>A (p.Phe580Leu) n.2275T>A n.2297T>A | |
| 16 | g.50712224T>C | CA495779103 | NOD2 | c.2232T>C (p.Phe744=) c.31T>C c.2313T>C (p.Phe771=) c.1809T>C (p.Phe603=) c.1647T>C (p.Phe549=) n.2322T>C c.1740T>C (p.Phe580=) n.2275T>C n.2297T>C | |
| 16 | g.50712224T>G | CA395871785 | NOD2 | c.2232T>G (p.Phe744Leu) c.31T>G c.2313T>G (p.Phe771Leu) c.1809T>G (p.Phe603Leu) c.1647T>G (p.Phe549Leu) n.2322T>G c.1740T>G (p.Phe580Leu) n.2275T>G n.2297T>G | |
| 16 | g.50712225T>A | CA395871787 | NOD2 | c.2233T>A (p.Cys745Ser) c.32T>A c.2314T>A (p.Cys772Ser) c.1810T>A (p.Cys604Ser) c.1648T>A (p.Cys550Ser) n.2323T>A c.1741T>A (p.Cys581Ser) n.2276T>A n.2298T>A | |
| 16 | g.50712225T>C | CA395871789 | NOD2 | c.2233T>C (p.Cys745Arg) c.32T>C c.2314T>C (p.Cys772Arg) c.1810T>C (p.Cys604Arg) c.1648T>C (p.Cys550Arg) n.2323T>C c.1741T>C (p.Cys581Arg) n.2276T>C n.2298T>C | |
| 16 | g.50712225T>G | CA395871791 | NOD2 | c.2233T>G (p.Cys745Gly) c.32T>G c.2314T>G (p.Cys772Gly) c.1810T>G (p.Cys604Gly) c.1648T>G (p.Cys550Gly) n.2323T>G c.1741T>G (p.Cys581Gly) n.2276T>G n.2298T>G | |
| 16 | g.50712226G>A | CA395871793 | NOD2 | c.2234G>A (p.Cys745Tyr) c.33G>A c.2315G>A (p.Cys772Tyr) c.1811G>A (p.Cys604Tyr) c.1649G>A (p.Cys550Tyr) n.2324G>A c.1742G>A (p.Cys581Tyr) n.2277G>A n.2299G>A | gnomAD v4 |
| 16 | g.50712226G>C | CA395871795 | NOD2 | c.2234G>C (p.Cys745Ser) c.33G>C c.2315G>C (p.Cys772Ser) c.1811G>C (p.Cys604Ser) c.1649G>C (p.Cys550Ser) n.2324G>C c.1742G>C (p.Cys581Ser) n.2277G>C n.2299G>C | |
| 16 | g.50712226G>T | CA395871796 | NOD2 | c.2234G>T (p.Cys745Phe) c.33G>T c.2315G>T (p.Cys772Phe) c.1811G>T (p.Cys604Phe) c.1649G>T (p.Cys550Phe) n.2324G>T c.1742G>T (p.Cys581Phe) n.2277G>T n.2299G>T | gnomAD v4 |
| 16 | g.50712227C>A | CA395871797 | NOD2 | c.2235C>A (p.Cys745Ter) c.34C>A c.2316C>A (p.Cys772Ter) c.1812C>A (p.Cys604Ter) c.1650C>A (p.Cys550Ter) n.2325C>A c.1743C>A (p.Cys581Ter) n.2278C>A n.2300C>A | |
| 16 | g.50712227C>G | CA395871798 | NOD2 | c.2235C>G (p.Cys745Trp) c.34C>G c.2316C>G (p.Cys772Trp) c.1812C>G (p.Cys604Trp) c.1650C>G (p.Cys550Trp) n.2325C>G c.1743C>G (p.Cys581Trp) n.2278C>G n.2300C>G | |
| 16 | g.50712227C>T | CA495779105 | NOD2 | c.2235C>T (p.Cys745=) c.34C>T c.2316C>T (p.Cys772=) c.1812C>T (p.Cys604=) c.1650C>T (p.Cys550=) n.2325C>T c.1743C>T (p.Cys581=) n.2278C>T n.2300C>T | gnomAD v4 |
| 16 | g.50712228A>C | CA395871804 | NOD2 | c.2236A>C (p.Ser746Arg) c.35A>C c.2317A>C (p.Ser773Arg) c.1813A>C (p.Ser605Arg) c.1651A>C (p.Ser551Arg) n.2326A>C c.1744A>C (p.Ser582Arg) n.2279A>C n.2301A>C | |
| 16 | g.50712228A>G | CA395871802 | NOD2 | c.2236A>G (p.Ser746Gly) c.35A>G c.2317A>G (p.Ser773Gly) c.1813A>G (p.Ser605Gly) c.1651A>G (p.Ser551Gly) n.2326A>G c.1744A>G (p.Ser582Gly) n.2279A>G n.2301A>G | |
| 16 | g.50712228A>T | CA395871800 | NOD2 | c.2236A>T (p.Ser746Cys) c.35A>T c.2317A>T (p.Ser773Cys) c.1813A>T (p.Ser605Cys) c.1651A>T (p.Ser551Cys) n.2326A>T c.1744A>T (p.Ser582Cys) n.2279A>T n.2301A>T | |
| 16 | g.50712229G>A | CA281264342 | NOD2 | c.2237G>A (p.Ser746Asn) c.36G>A c.2318G>A (p.Ser773Asn) c.1814G>A (p.Ser605Asn) c.1652G>A (p.Ser551Asn) n.2327G>A c.1745G>A (p.Ser582Asn) n.2280G>A n.2302G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712229G>C | CA395871807 | NOD2 | c.2237G>C (p.Ser746Thr) c.36G>C c.2318G>C (p.Ser773Thr) c.1814G>C (p.Ser605Thr) c.1652G>C (p.Ser551Thr) n.2327G>C c.1745G>C (p.Ser582Thr) n.2280G>C n.2302G>C | |
| 16 | g.50712229G= | CA2221862879 | NOD2 | c.2237G= (p.Ser746=) c.36G= c.2318G= (p.Ser773=) c.1814G= (p.Ser605=) c.1652G= (p.Ser551=) n.2327G= c.1745G= (p.Ser582=) n.2280G= n.2302G= | |
| 16 | g.50712229G>T | CA395871809 | NOD2 | c.2237G>T (p.Ser746Ile) c.36G>T c.2318G>T (p.Ser773Ile) c.1814G>T (p.Ser605Ile) c.1652G>T (p.Ser551Ile) n.2327G>T c.1745G>T (p.Ser582Ile) n.2280G>T n.2302G>T | |
| 16 | g.50712230T>A | CA395871811 | NOD2 | c.2238T>A (p.Ser746Arg) c.37T>A c.2319T>A (p.Ser773Arg) c.1815T>A (p.Ser605Arg) c.1653T>A (p.Ser551Arg) n.2328T>A c.1746T>A (p.Ser582Arg) n.2281T>A n.2303T>A | |
| 16 | g.50712230T>C | CA495779108 | NOD2 | c.2238T>C (p.Ser746=) c.37T>C c.2319T>C (p.Ser773=) c.1815T>C (p.Ser605=) c.1653T>C (p.Ser551=) n.2328T>C c.1746T>C (p.Ser582=) n.2281T>C n.2303T>C | gnomAD v4 |
| 16 | g.50712230T>G | CA395871813 | NOD2 | c.2238T>G (p.Ser746Arg) c.37T>G c.2319T>G (p.Ser773Arg) c.1815T>G (p.Ser605Arg) c.1653T>G (p.Ser551Arg) n.2328T>G c.1746T>G (p.Ser582Arg) n.2281T>G n.2303T>G | |
| 16 | g.50712231G>A | CA395871815 | NOD2 | c.2239G>A (p.Val747Met) c.38G>A c.2320G>A (p.Val774Met) c.1816G>A (p.Val606Met) c.1654G>A (p.Val552Met) n.2329G>A c.1747G>A (p.Val583Met) n.2282G>A n.2304G>A | |
| 16 | g.50712231G>C | CA395871817 | NOD2 | c.2239G>C (p.Val747Leu) c.38G>C c.2320G>C (p.Val774Leu) c.1816G>C (p.Val606Leu) c.1654G>C (p.Val552Leu) n.2329G>C c.1747G>C (p.Val583Leu) n.2282G>C n.2304G>C | |
| 16 | g.50712231G>T | CA395871819 | NOD2 | c.2239G>T (p.Val747Leu) c.38G>T c.2320G>T (p.Val774Leu) c.1816G>T (p.Val606Leu) c.1654G>T (p.Val552Leu) n.2329G>T c.1747G>T (p.Val583Leu) n.2282G>T n.2304G>T | |
| 16 | g.50712232T>A | CA395871821 | NOD2 | c.2240T>A (p.Val747Glu) c.39T>A c.2321T>A (p.Val774Glu) c.1817T>A (p.Val606Glu) c.1655T>A (p.Val552Glu) n.2330T>A c.1748T>A (p.Val583Glu) n.2283T>A n.2305T>A | |
| 16 | g.50712232T>C | CA395871822 | NOD2 | c.2240T>C (p.Val747Ala) c.39T>C c.2321T>C (p.Val774Ala) c.1817T>C (p.Val606Ala) c.1655T>C (p.Val552Ala) n.2330T>C c.1748T>C (p.Val583Ala) n.2283T>C n.2305T>C | |
| 16 | g.50712232T>G | CA395871824 | NOD2 | c.2240T>G (p.Val747Gly) c.39T>G c.2321T>G (p.Val774Gly) c.1817T>G (p.Val606Gly) c.1655T>G (p.Val552Gly) n.2330T>G c.1748T>G (p.Val583Gly) n.2283T>G n.2305T>G | |
| 16 | g.50712233G>A | CA495779113 | NOD2 | c.2241G>A (p.Val747=) c.40G>A c.2322G>A (p.Val774=) c.1818G>A (p.Val606=) c.1656G>A (p.Val552=) n.2331G>A c.1749G>A (p.Val583=) n.2284G>A n.2306G>A | |
| 16 | g.50712233G>C | CA495779110 | NOD2 | c.2241G>C (p.Val747=) c.40G>C c.2322G>C (p.Val774=) c.1818G>C (p.Val606=) c.1656G>C (p.Val552=) n.2331G>C c.1749G>C (p.Val583=) n.2284G>C n.2306G>C | |
| 16 | g.50712233G>T | CA495779112 | NOD2 | c.2241G>T (p.Val747=) c.40G>T c.2322G>T (p.Val774=) c.1818G>T (p.Val606=) c.1656G>T (p.Val552=) n.2331G>T c.1749G>T (p.Val583=) n.2284G>T n.2306G>T | |
| 16 | g.50712234G>A | CA395871825 | NOD2 | c.2242G>A (p.Gly748Ser) c.41G>A c.2323G>A (p.Gly775Ser) c.1819G>A (p.Gly607Ser) c.1657G>A (p.Gly553Ser) n.2332G>A c.1750G>A (p.Gly584Ser) n.2285G>A n.2307G>A | dbSNP |
| 16 | g.50712234G>C | CA395871827 | NOD2 | c.2242G>C (p.Gly748Arg) c.41G>C c.2323G>C (p.Gly775Arg) c.1819G>C (p.Gly607Arg) c.1657G>C (p.Gly553Arg) n.2332G>C c.1750G>C (p.Gly584Arg) n.2285G>C n.2307G>C | |
| 16 | g.50712234G= | CA2221862881 | NOD2 | c.2242G= (p.Gly748=) c.41G= c.2323G= (p.Gly775=) c.1819G= (p.Gly607=) c.1657G= (p.Gly553=) n.2332G= c.1750G= (p.Gly584=) n.2285G= n.2307G= | |
| 16 | g.50712234G>T | CA395871829 | NOD2 | c.2242G>T (p.Gly748Cys) c.41G>T c.2323G>T (p.Gly775Cys) c.1819G>T (p.Gly607Cys) c.1657G>T (p.Gly553Cys) n.2332G>T c.1750G>T (p.Gly584Cys) n.2285G>T n.2307G>T | |
| 16 | g.50712235G>A | CA395871833 | NOD2 | c.2243G>A (p.Gly748Asp) c.42G>A c.2324G>A (p.Gly775Asp) c.1820G>A (p.Gly607Asp) c.1658G>A (p.Gly553Asp) n.2333G>A c.1751G>A (p.Gly584Asp) n.2286G>A n.2308G>A | ClinVar gnomAD v4 |
| 16 | g.50712235G>C | CA395871835 | NOD2 | c.2243G>C (p.Gly748Ala) c.42G>C c.2324G>C (p.Gly775Ala) c.1820G>C (p.Gly607Ala) c.1658G>C (p.Gly553Ala) n.2333G>C c.1751G>C (p.Gly584Ala) n.2286G>C n.2308G>C | |
| 16 | g.50712235G>T | CA395871832 | NOD2 | c.2243G>T (p.Gly748Val) c.42G>T c.2324G>T (p.Gly775Val) c.1820G>T (p.Gly607Val) c.1658G>T (p.Gly553Val) n.2333G>T c.1751G>T (p.Gly584Val) n.2286G>T n.2308G>T | |
| 16 | g.50712236C>A | CA495779114 | NOD2 | c.2244C>A (p.Gly748=) c.43C>A c.2325C>A (p.Gly775=) c.1821C>A (p.Gly607=) c.1659C>A (p.Gly553=) n.2334C>A c.1752C>A (p.Gly584=) n.2287C>A n.2309C>A | |
| 16 | g.50712236C= | CA2221862884 | NOD2 | c.2244C= (p.Gly748=) c.43C= c.2325C= (p.Gly775=) c.1821C= (p.Gly607=) c.1659C= (p.Gly553=) n.2334C= c.1752C= (p.Gly584=) n.2287C= n.2309C= | |
| 16 | g.50712236C>G | CA495779115 | NOD2 | c.2244C>G (p.Gly748=) c.43C>G c.2325C>G (p.Gly775=) c.1821C>G (p.Gly607=) c.1659C>G (p.Gly553=) n.2334C>G c.1752C>G (p.Gly584=) n.2287C>G n.2309C>G | |
| 16 | g.50712236C>T | CA281264345 | NOD2 | c.2244C>T (p.Gly748=) c.43C>T c.2325C>T (p.Gly775=) c.1821C>T (p.Gly607=) c.1659C>T (p.Gly553=) n.2334C>T c.1752C>T (p.Gly584=) n.2287C>T n.2309C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712237C>A | CA395871838 | NOD2 | c.2245C>A (p.Pro749Thr) c.44C>A c.2326C>A (p.Pro776Thr) c.1822C>A (p.Pro608Thr) c.1660C>A (p.Pro554Thr) n.2335C>A c.1753C>A (p.Pro585Thr) n.2288C>A n.2310C>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712237C= | CA2221862887 | NOD2 | c.2245C= (p.Pro749=) c.44C= c.2326C= (p.Pro776=) c.1822C= (p.Pro608=) c.1660C= (p.Pro554=) n.2335C= c.1753C= (p.Pro585=) n.2288C= n.2310C= | |
| 16 | g.50712237C>G | CA395871839 | NOD2 | c.2245C>G (p.Pro749Ala) c.44C>G c.2326C>G (p.Pro776Ala) c.1822C>G (p.Pro608Ala) c.1660C>G (p.Pro554Ala) n.2335C>G c.1753C>G (p.Pro585Ala) n.2288C>G n.2310C>G | |
| 16 | g.50712237C>T | CA395871842 | NOD2 | c.2245C>T (p.Pro749Ser) c.44C>T c.2326C>T (p.Pro776Ser) c.1822C>T (p.Pro608Ser) c.1660C>T (p.Pro554Ser) n.2335C>T c.1753C>T (p.Pro585Ser) n.2288C>T n.2310C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712238C>A | CA395871844 | NOD2 | c.2246C>A (p.Pro749His) c.45C>A c.2327C>A (p.Pro776His) c.1823C>A (p.Pro608His) c.1661C>A (p.Pro554His) n.2336C>A c.1754C>A (p.Pro585His) n.2289C>A n.2311C>A | gnomAD v4 |
| 16 | g.50712238C>G | CA395871846 | NOD2 | c.2246C>G (p.Pro749Arg) c.45C>G c.2327C>G (p.Pro776Arg) c.1823C>G (p.Pro608Arg) c.1661C>G (p.Pro554Arg) n.2336C>G c.1754C>G (p.Pro585Arg) n.2289C>G n.2311C>G | |
| 16 | g.50712238C>T | CA395871848 | NOD2 | c.2246C>T (p.Pro749Leu) c.45C>T c.2327C>T (p.Pro776Leu) c.1823C>T (p.Pro608Leu) c.1661C>T (p.Pro554Leu) n.2336C>T c.1754C>T (p.Pro585Leu) n.2289C>T n.2311C>T | gnomAD v4 |
| 16 | g.50712239C>A | CA495779117 | NOD2 | c.2247C>A (p.Pro749=) c.46C>A c.2328C>A (p.Pro776=) c.1824C>A (p.Pro608=) c.1662C>A (p.Pro554=) n.2337C>A c.1755C>A (p.Pro585=) n.2290C>A n.2312C>A | |
| 16 | g.50712239C>G | CA495779119 | NOD2 | c.2247C>G (p.Pro749=) c.46C>G c.2328C>G (p.Pro776=) c.1824C>G (p.Pro608=) c.1662C>G (p.Pro554=) n.2337C>G c.1755C>G (p.Pro585=) n.2290C>G n.2312C>G | |
| 16 | g.50712239C>T | CA495779118 | NOD2 | c.2247C>T (p.Pro749=) c.46C>T c.2328C>T (p.Pro776=) c.1824C>T (p.Pro608=) c.1662C>T (p.Pro554=) n.2337C>T c.1755C>T (p.Pro585=) n.2290C>T n.2312C>T | |
| 16 | g.50712240A>C | CA395871850 | NOD2 | c.2248A>C (p.Thr750Pro) c.47A>C c.2329A>C (p.Thr777Pro) c.1825A>C (p.Thr609Pro) c.1663A>C (p.Thr555Pro) n.2338A>C c.1756A>C (p.Thr586Pro) n.2291A>C n.2313A>C | |
| 16 | g.50712240A>G | CA395871852 | NOD2 | c.2248A>G (p.Thr750Ala) c.47A>G c.2329A>G (p.Thr777Ala) c.1825A>G (p.Thr609Ala) c.1663A>G (p.Thr555Ala) n.2338A>G c.1756A>G (p.Thr586Ala) n.2291A>G n.2313A>G | dbSNP |
| 16 | g.50712240A>T | CA395871854 | NOD2 | c.2248A>T (p.Thr750Ser) c.47A>T c.2329A>T (p.Thr777Ser) c.1825A>T (p.Thr609Ser) c.1663A>T (p.Thr555Ser) n.2338A>T c.1756A>T (p.Thr586Ser) n.2291A>T n.2313A>T | |
| 16 | g.50712240_50712241delinsAC | CA2221862891 | NOD2 | c.2248_2249delinsAC (p.Thr750=) c.47_48delinsAC c.2329_2330delinsAC (p.Thr777=) c.1825_1826delinsAC (p.Thr609=) c.1663_1664delinsAC (p.Thr555=) n.2338_2339delinsAC c.1756_1757delinsAC (p.Thr586=) n.2291_2292delinsAC n.2313_2314delinsAC | |
| 16 | g.50712241del | CA2221862894 | NOD2 | c.2249del (p.Thr750MetfsTer?) c.48del c.2330del (p.Thr777MetfsTer?) c.1826del (p.Thr609MetfsTer?) c.1664del (p.Thr555MetfsTer?) n.2339del c.1757del (p.Thr586MetfsTer?) n.2292del n.2314del | dbSNP |
| 16 | g.50712241C>A | CA8051753 | NOD2 | c.2249C>A (p.Thr750Asn) c.48C>A c.2330C>A (p.Thr777Asn) c.1826C>A (p.Thr609Asn) c.1664C>A (p.Thr555Asn) n.2339C>A c.1757C>A (p.Thr586Asn) n.2292C>A n.2314C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712241C= | CA2221862895 | NOD2 | c.2249C= (p.Thr750=) c.48C= c.2330C= (p.Thr777=) c.1826C= (p.Thr609=) c.1664C= (p.Thr555=) n.2339C= c.1757C= (p.Thr586=) n.2292C= n.2314C= | |
| 16 | g.50712241C>G | CA395871857 | NOD2 | c.2249C>G (p.Thr750Ser) c.48C>G c.2330C>G (p.Thr777Ser) c.1826C>G (p.Thr609Ser) c.1664C>G (p.Thr555Ser) n.2339C>G c.1757C>G (p.Thr586Ser) n.2292C>G n.2314C>G | |
| 16 | g.50712241C>T | CA395871858 | NOD2 | c.2249C>T (p.Thr750Ile) c.48C>T c.2330C>T (p.Thr777Ile) c.1826C>T (p.Thr609Ile) c.1664C>T (p.Thr555Ile) n.2339C>T c.1757C>T (p.Thr586Ile) n.2292C>T n.2314C>T | |
| 16 | g.50712242T>A | CA495779121 | NOD2 | c.2250T>A (p.Thr750=) c.49T>A c.2331T>A (p.Thr777=) c.1827T>A (p.Thr609=) c.1665T>A (p.Thr555=) n.2340T>A c.1758T>A (p.Thr586=) n.2293T>A n.2315T>A | |
| 16 | g.50712242T>C | CA495779123 | NOD2 | c.2250T>C (p.Thr750=) c.49T>C c.2331T>C (p.Thr777=) c.1827T>C (p.Thr609=) c.1665T>C (p.Thr555=) n.2340T>C c.1758T>C (p.Thr586=) n.2293T>C n.2315T>C | |
| 16 | g.50712242T>G | CA495779124 | NOD2 | c.2250T>G (p.Thr750=) c.49T>G c.2331T>G (p.Thr777=) c.1827T>G (p.Thr609=) c.1665T>G (p.Thr555=) n.2340T>G c.1758T>G (p.Thr586=) n.2293T>G n.2315T>G | gnomAD v4 |
| 16 | g.50712243G>A | CA150256 | NOD2 | c.2251G>A (p.Glu751Lys) c.50G>A c.2332G>A (p.Glu778Lys) c.1828G>A (p.Glu610Lys) c.1666G>A (p.Glu556Lys) n.2341G>A c.1759G>A (p.Glu587Lys) n.2294G>A n.2316G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712243G>C | CA395871863 | NOD2 | c.2251G>C (p.Glu751Gln) c.50G>C c.2332G>C (p.Glu778Gln) c.1828G>C (p.Glu610Gln) c.1666G>C (p.Glu556Gln) n.2341G>C c.1759G>C (p.Glu587Gln) n.2294G>C n.2316G>C | |
| 16 | g.50712243G= | CA2221862900 | NOD2 | c.2251G= (p.Glu751=) c.50G= c.2332G= (p.Glu778=) c.1828G= (p.Glu610=) c.1666G= (p.Glu556=) n.2341G= c.1759G= (p.Glu587=) n.2294G= n.2316G= | |
| 16 | g.50712243G>T | CA395871861 | NOD2 | c.2251G>T (p.Glu751Ter) c.50G>T c.2332G>T (p.Glu778Ter) c.1828G>T (p.Glu610Ter) c.1666G>T (p.Glu556Ter) n.2341G>T c.1759G>T (p.Glu587Ter) n.2294G>T n.2316G>T | |
| 16 | g.50712244A>C | CA395871865 | NOD2 | c.2252A>C (p.Glu751Ala) c.51A>C c.2333A>C (p.Glu778Ala) c.1829A>C (p.Glu610Ala) c.1667A>C (p.Glu556Ala) n.2342A>C c.1760A>C (p.Glu587Ala) n.2295A>C n.2317A>C | |
| 16 | g.50712244A>G | CA395871866 | NOD2 | c.2252A>G (p.Glu751Gly) c.51A>G c.2333A>G (p.Glu778Gly) c.1829A>G (p.Glu610Gly) c.1667A>G (p.Glu556Gly) n.2342A>G c.1760A>G (p.Glu587Gly) n.2295A>G n.2317A>G | |
| 16 | g.50712244A>T | CA395871868 | NOD2 | c.2252A>T (p.Glu751Val) c.51A>T c.2333A>T (p.Glu778Val) c.1829A>T (p.Glu610Val) c.1667A>T (p.Glu556Val) n.2342A>T c.1760A>T (p.Glu587Val) n.2295A>T n.2317A>T | |
| 16 | g.50712245G>A | CA495779125 | NOD2 | c.2253G>A (p.Glu751=) c.52G>A c.2334G>A (p.Glu778=) c.1830G>A (p.Glu610=) c.1668G>A (p.Glu556=) n.2343G>A c.1761G>A (p.Glu587=) n.2296G>A n.2318G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712245G>C | CA395871870 | NOD2 | c.2253G>C (p.Glu751Asp) c.52G>C c.2334G>C (p.Glu778Asp) c.1830G>C (p.Glu610Asp) c.1668G>C (p.Glu556Asp) n.2343G>C c.1761G>C (p.Glu587Asp) n.2296G>C n.2318G>C | ClinVar |
| 16 | g.50712245G= | CA2221862906 | NOD2 | c.2253G= (p.Glu751=) c.52G= c.2334G= (p.Glu778=) c.1830G= (p.Glu610=) c.1668G= (p.Glu556=) n.2343G= c.1761G= (p.Glu587=) n.2296G= n.2318G= | |
| 16 | g.50712245G>T | CA395871872 | NOD2 | c.2253G>T (p.Glu751Asp) c.52G>T c.2334G>T (p.Glu778Asp) c.1830G>T (p.Glu610Asp) c.1668G>T (p.Glu556Asp) n.2343G>T c.1761G>T (p.Glu587Asp) n.2296G>T n.2318G>T | |
| 16 | g.50712246T>A | CA395871878 | NOD2 | c.2254T>A (p.Cys752Ser) c.53T>A c.2335T>A (p.Cys779Ser) c.1831T>A (p.Cys611Ser) c.1669T>A (p.Cys557Ser) n.2344T>A c.1762T>A (p.Cys588Ser) n.2297T>A n.2319T>A | |
| 16 | g.50712246T>C | CA395871874 | NOD2 | c.2254T>C (p.Cys752Arg) c.53T>C c.2335T>C (p.Cys779Arg) c.1831T>C (p.Cys611Arg) c.1669T>C (p.Cys557Arg) n.2344T>C c.1762T>C (p.Cys588Arg) n.2297T>C n.2319T>C | gnomAD v4 |
| 16 | g.50712246T>G | CA395871876 | NOD2 | c.2254T>G (p.Cys752Gly) c.53T>G c.2335T>G (p.Cys779Gly) c.1831T>G (p.Cys611Gly) c.1669T>G (p.Cys557Gly) n.2344T>G c.1762T>G (p.Cys588Gly) n.2297T>G n.2319T>G | |
| 16 | g.50712247G>A | CA8051754 | NOD2 | c.2255G>A (p.Cys752Tyr) c.54G>A c.2336G>A (p.Cys779Tyr) c.1832G>A (p.Cys611Tyr) c.1670G>A (p.Cys557Tyr) n.2345G>A c.1763G>A (p.Cys588Tyr) n.2298G>A n.2320G>A | dbSNP ExAC gnomAD v2 |
| 16 | g.50712247G>C | CA395871881 | NOD2 | c.2255G>C (p.Cys752Ser) c.54G>C c.2336G>C (p.Cys779Ser) c.1832G>C (p.Cys611Ser) c.1670G>C (p.Cys557Ser) n.2345G>C c.1763G>C (p.Cys588Ser) n.2298G>C n.2320G>C | |
| 16 | g.50712247G= | CA2221862911 | NOD2 | c.2255G= (p.Cys752=) c.54G= c.2336G= (p.Cys779=) c.1832G= (p.Cys611=) c.1670G= (p.Cys557=) n.2345G= c.1763G= (p.Cys588=) n.2298G= n.2320G= | |
| 16 | g.50712247G>T | CA395871883 | NOD2 | c.2255G>T (p.Cys752Phe) c.54G>T c.2336G>T (p.Cys779Phe) c.1832G>T (p.Cys611Phe) c.1670G>T (p.Cys557Phe) n.2345G>T c.1763G>T (p.Cys588Phe) n.2298G>T n.2320G>T | gnomAD v4 |
| 16 | g.50712248T>A | CA395871886 | NOD2 | c.2256T>A (p.Cys752Ter) c.55T>A c.2337T>A (p.Cys779Ter) c.1833T>A (p.Cys611Ter) c.1671T>A (p.Cys557Ter) n.2346T>A c.1764T>A (p.Cys588Ter) n.2299T>A n.2321T>A | |
| 16 | g.50712248T>C | CA495779129 | NOD2 | c.2256T>C (p.Cys752=) c.55T>C c.2337T>C (p.Cys779=) c.1833T>C (p.Cys611=) c.1671T>C (p.Cys557=) n.2346T>C c.1764T>C (p.Cys588=) n.2299T>C n.2321T>C | |
| 16 | g.50712248T>G | CA395871887 | NOD2 | c.2256T>G (p.Cys752Trp) c.55T>G c.2337T>G (p.Cys779Trp) c.1833T>G (p.Cys611Trp) c.1671T>G (p.Cys557Trp) n.2346T>G c.1764T>G (p.Cys588Trp) n.2299T>G n.2321T>G | |
| 16 | g.50712249G>A | CA395871891 | NOD2 | c.2257G>A (p.Ala753Thr) c.56G>A c.2338G>A (p.Ala780Thr) c.1834G>A (p.Ala612Thr) c.1672G>A (p.Ala558Thr) n.2347G>A c.1765G>A (p.Ala589Thr) n.2300G>A n.2322G>A | dbSNP gnomAD v2 |
| 16 | g.50712249G>C | CA395871890 | NOD2 | c.2257G>C (p.Ala753Pro) c.56G>C c.2338G>C (p.Ala780Pro) c.1834G>C (p.Ala612Pro) c.1672G>C (p.Ala558Pro) n.2347G>C c.1765G>C (p.Ala589Pro) n.2300G>C n.2322G>C | |
| 16 | g.50712249G= | CA2221862914 | NOD2 | c.2257G= (p.Ala753=) c.56G= c.2338G= (p.Ala780=) c.1834G= (p.Ala612=) c.1672G= (p.Ala558=) n.2347G= c.1765G= (p.Ala589=) n.2300G= n.2322G= | |
| 16 | g.50712249G>T | CA395871888 | NOD2 | c.2257G>T (p.Ala753Ser) c.56G>T c.2338G>T (p.Ala780Ser) c.1834G>T (p.Ala612Ser) c.1672G>T (p.Ala558Ser) n.2347G>T c.1765G>T (p.Ala589Ser) n.2300G>T n.2322G>T | |
| 16 | g.50712250C>A | CA395871894 | NOD2 | c.2258C>A (p.Ala753Asp) c.57C>A c.2339C>A (p.Ala780Asp) c.1835C>A (p.Ala612Asp) c.1673C>A (p.Ala558Asp) n.2348C>A c.1766C>A (p.Ala589Asp) n.2301C>A n.2323C>A | |
| 16 | g.50712250C>G | CA395871896 | NOD2 | c.2258C>G (p.Ala753Gly) c.57C>G c.2339C>G (p.Ala780Gly) c.1835C>G (p.Ala612Gly) c.1673C>G (p.Ala558Gly) n.2348C>G c.1766C>G (p.Ala589Gly) n.2301C>G n.2323C>G | |
| 16 | g.50712250C>T | CA395871895 | NOD2 | c.2258C>T (p.Ala753Val) c.57C>T c.2339C>T (p.Ala780Val) c.1835C>T (p.Ala612Val) c.1673C>T (p.Ala558Val) n.2348C>T c.1766C>T (p.Ala589Val) n.2301C>T n.2323C>T | |
| 16 | g.50712251T>A | CA495779130 | NOD2 | c.2259T>A (p.Ala753=) c.58T>A c.2340T>A (p.Ala780=) c.1836T>A (p.Ala612=) c.1674T>A (p.Ala558=) n.2349T>A c.1767T>A (p.Ala589=) n.2302T>A n.2324T>A | |
| 16 | g.50712251T>C | CA8051755 | NOD2 | c.2259T>C (p.Ala753=) c.58T>C c.2340T>C (p.Ala780=) c.1836T>C (p.Ala612=) c.1674T>C (p.Ala558=) n.2349T>C c.1767T>C (p.Ala589=) n.2302T>C n.2324T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712251T>G | CA495779131 | NOD2 | c.2259T>G (p.Ala753=) c.58T>G c.2340T>G (p.Ala780=) c.1836T>G (p.Ala612=) c.1674T>G (p.Ala558=) n.2349T>G c.1767T>G (p.Ala589=) n.2302T>G n.2324T>G | |
| 16 | g.50712251T= | CA2221862916 | NOD2 | c.2259T= (p.Ala753=) c.58T= c.2340T= (p.Ala780=) c.1836T= (p.Ala612=) c.1674T= (p.Ala558=) n.2349T= c.1767T= (p.Ala589=) n.2302T= n.2324T= | |
| 16 | g.50712252G>A | CA395871903 | NOD2 | c.2260G>A (p.Ala754Thr) c.59G>A c.2341G>A (p.Ala781Thr) c.1837G>A (p.Ala613Thr) c.1675G>A (p.Ala559Thr) n.2350G>A c.1768G>A (p.Ala590Thr) n.2303G>A n.2325G>A | |
| 16 | g.50712252G>C | CA395871899 | NOD2 | c.2260G>C (p.Ala754Pro) c.59G>C c.2341G>C (p.Ala781Pro) c.1837G>C (p.Ala613Pro) c.1675G>C (p.Ala559Pro) n.2350G>C c.1768G>C (p.Ala590Pro) n.2303G>C n.2325G>C | |
| 16 | g.50712252G>T | CA395871901 | NOD2 | c.2260G>T (p.Ala754Ser) c.59G>T c.2341G>T (p.Ala781Ser) c.1837G>T (p.Ala613Ser) c.1675G>T (p.Ala559Ser) n.2350G>T c.1768G>T (p.Ala590Ser) n.2303G>T n.2325G>T | |
| 16 | g.50712253C>A | CA395871905 | NOD2 | c.2261C>A (p.Ala754Asp) c.60C>A c.2342C>A (p.Ala781Asp) c.1838C>A (p.Ala613Asp) c.1676C>A (p.Ala559Asp) n.2351C>A c.1769C>A (p.Ala590Asp) n.2304C>A n.2326C>A | |
| 16 | g.50712253C= | CA2221862920 | NOD2 | c.2261C= (p.Ala754=) c.60C= c.2342C= (p.Ala781=) c.1838C= (p.Ala613=) c.1676C= (p.Ala559=) n.2351C= c.1769C= (p.Ala590=) n.2304C= n.2326C= | |
| 16 | g.50712253C>G | CA395871907 | NOD2 | c.2261C>G (p.Ala754Gly) c.60C>G c.2342C>G (p.Ala781Gly) c.1838C>G (p.Ala613Gly) c.1676C>G (p.Ala559Gly) n.2351C>G c.1769C>G (p.Ala590Gly) n.2304C>G n.2326C>G | |
| 16 | g.50712253C>T | CA281264410 | NOD2 | c.2261C>T (p.Ala754Val) c.60C>T c.2342C>T (p.Ala781Val) c.1838C>T (p.Ala613Val) c.1676C>T (p.Ala559Val) n.2351C>T c.1769C>T (p.Ala590Val) n.2304C>T n.2326C>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.50712254C>A | CA495779133 | NOD2 | c.2262C>A (p.Ala754=) c.61C>A c.2343C>A (p.Ala781=) c.1839C>A (p.Ala613=) c.1677C>A (p.Ala559=) n.2352C>A c.1770C>A (p.Ala590=) n.2305C>A n.2327C>A | |
| 16 | g.50712254C= | CA2221862922 | NOD2 | c.2262C= (p.Ala754=) c.61C= c.2343C= (p.Ala781=) c.1839C= (p.Ala613=) c.1677C= (p.Ala559=) n.2352C= c.1770C= (p.Ala590=) n.2305C= n.2327C= | |
| 16 | g.50712254C>G | CA495779135 | NOD2 | c.2262C>G (p.Ala754=) c.61C>G c.2343C>G (p.Ala781=) c.1839C>G (p.Ala613=) c.1677C>G (p.Ala559=) n.2352C>G c.1770C>G (p.Ala590=) n.2305C>G n.2327C>G | gnomAD v4 |
| 16 | g.50712254C>T | CA495779137 | NOD2 | c.2262C>T (p.Ala754=) c.61C>T c.2343C>T (p.Ala781=) c.1839C>T (p.Ala613=) c.1677C>T (p.Ala559=) n.2352C>T c.1770C>T (p.Ala590=) n.2305C>T n.2327C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712254_50712316del | CA2633164737 | NOD2 | c.2262_2324del (p.Leu755_Val775del) c.61_123del c.2343_2405del (p.Leu782_Val802del) c.1839_1901del (p.Leu614_Val634del) c.1677_1739del (p.Leu560_Val580del) n.2352_2414del c.1770_1832del (p.Leu591_Val611del) n.2305_2367del n.2327_2389del | gnomAD v4 |
| 16 | g.50712255C>A | CA395871913 | NOD2 | c.2263C>A (p.Leu755Met) c.62C>A c.2344C>A (p.Leu782Met) c.1840C>A (p.Leu614Met) c.1678C>A (p.Leu560Met) n.2353C>A c.1771C>A (p.Leu591Met) n.2306C>A n.2328C>A | |
| 16 | g.50712255C= | CA2221862926 | NOD2 | c.2263C= (p.Leu755=) c.62C= c.2344C= (p.Leu782=) c.1840C= (p.Leu614=) c.1678C= (p.Leu560=) n.2353C= c.1771C= (p.Leu591=) n.2306C= n.2328C= | |
| 16 | g.50712255C>G | CA395871911 | NOD2 | c.2263C>G (p.Leu755Val) c.62C>G c.2344C>G (p.Leu782Val) c.1840C>G (p.Leu614Val) c.1678C>G (p.Leu560Val) n.2353C>G c.1771C>G (p.Leu591Val) n.2306C>G n.2328C>G | |
| 16 | g.50712255C>T | CA281264417 | NOD2 | c.2263C>T (p.Leu755=) c.62C>T c.2344C>T (p.Leu782=) c.1840C>T (p.Leu614=) c.1678C>T (p.Leu560=) n.2353C>T c.1771C>T (p.Leu591=) n.2306C>T n.2328C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712256T>A | CA395871915 | NOD2 | c.2264T>A (p.Leu755Gln) c.63T>A c.2345T>A (p.Leu782Gln) c.1841T>A (p.Leu614Gln) c.1679T>A (p.Leu560Gln) n.2354T>A c.1772T>A (p.Leu591Gln) n.2307T>A n.2329T>A | |
| 16 | g.50712256T>C | CA395871917 | NOD2 | c.2264T>C (p.Leu755Pro) c.63T>C c.2345T>C (p.Leu782Pro) c.1841T>C (p.Leu614Pro) c.1679T>C (p.Leu560Pro) n.2354T>C c.1772T>C (p.Leu591Pro) n.2307T>C n.2329T>C | |
| 16 | g.50712256T>G | CA395871919 | NOD2 | c.2264T>G (p.Leu755Arg) c.63T>G c.2345T>G (p.Leu782Arg) c.1841T>G (p.Leu614Arg) c.1679T>G (p.Leu560Arg) n.2354T>G c.1772T>G (p.Leu591Arg) n.2307T>G n.2329T>G | |
| 16 | g.50712257G>A | CA495779139 | NOD2 | c.2265G>A (p.Leu755=) c.64G>A c.2346G>A (p.Leu782=) c.1842G>A (p.Leu614=) c.1680G>A (p.Leu560=) n.2355G>A c.1773G>A (p.Leu591=) n.2308G>A n.2330G>A | |
| 16 | g.50712257G>C | CA495779140 | NOD2 | c.2265G>C (p.Leu755=) c.64G>C c.2346G>C (p.Leu782=) c.1842G>C (p.Leu614=) c.1680G>C (p.Leu560=) n.2355G>C c.1773G>C (p.Leu591=) n.2308G>C n.2330G>C | |
| 16 | g.50712257G>T | CA495779141 | NOD2 | c.2265G>T (p.Leu755=) c.64G>T c.2346G>T (p.Leu782=) c.1842G>T (p.Leu614=) c.1680G>T (p.Leu560=) n.2355G>T c.1773G>T (p.Leu591=) n.2308G>T n.2330G>T | |
| 16 | g.50712258G>A | CA395871921 | NOD2 | c.2266G>A (p.Ala756Thr) c.65G>A c.2347G>A (p.Ala783Thr) c.1843G>A (p.Ala615Thr) c.1681G>A (p.Ala561Thr) n.2356G>A c.1774G>A (p.Ala592Thr) n.2309G>A n.2331G>A | |
| 16 | g.50712258G>C | CA395871923 | NOD2 | c.2266G>C (p.Ala756Pro) c.65G>C c.2347G>C (p.Ala783Pro) c.1843G>C (p.Ala615Pro) c.1681G>C (p.Ala561Pro) n.2356G>C c.1774G>C (p.Ala592Pro) n.2309G>C n.2331G>C | |
| 16 | g.50712258G>T | CA395871925 | NOD2 | c.2266G>T (p.Ala756Ser) c.65G>T c.2347G>T (p.Ala783Ser) c.1843G>T (p.Ala615Ser) c.1681G>T (p.Ala561Ser) n.2356G>T c.1774G>T (p.Ala592Ser) n.2309G>T n.2331G>T | |
| 16 | g.50712259C>A | CA281264422 | NOD2 | c.2267C>A (p.Ala756Asp) c.66C>A c.2348C>A (p.Ala783Asp) c.1844C>A (p.Ala615Asp) c.1682C>A (p.Ala561Asp) n.2357C>A c.1775C>A (p.Ala592Asp) n.2310C>A n.2332C>A | dbSNP |
| 16 | g.50712259C= | CA2221862932 | NOD2 | c.2267C= (p.Ala756=) c.66C= c.2348C= (p.Ala783=) c.1844C= (p.Ala615=) c.1682C= (p.Ala561=) n.2357C= c.1775C= (p.Ala592=) n.2310C= n.2332C= | |
| 16 | g.50712259C>G | CA395871931 | NOD2 | c.2267C>G (p.Ala756Gly) c.66C>G c.2348C>G (p.Ala783Gly) c.1844C>G (p.Ala615Gly) c.1682C>G (p.Ala561Gly) n.2357C>G c.1775C>G (p.Ala592Gly) n.2310C>G n.2332C>G | ClinVar gnomAD v4 |
| 16 | g.50712259C>T | CA395871928 | NOD2 | c.2267C>T (p.Ala756Val) c.66C>T c.2348C>T (p.Ala783Val) c.1844C>T (p.Ala615Val) c.1682C>T (p.Ala561Val) n.2357C>T c.1775C>T (p.Ala592Val) n.2310C>T n.2332C>T | dbSNP gnomAD v2 |
| 16 | g.50712260C>A | CA495779145 | NOD2 | c.2268C>A (p.Ala756=) c.67C>A c.2349C>A (p.Ala783=) c.1845C>A (p.Ala615=) c.1683C>A (p.Ala561=) n.2358C>A c.1776C>A (p.Ala592=) n.2311C>A n.2333C>A | |
| 16 | g.50712260C= | CA2221862936 | NOD2 | c.2268C= (p.Ala756=) c.67C= c.2349C= (p.Ala783=) c.1845C= (p.Ala615=) c.1683C= (p.Ala561=) n.2358C= c.1776C= (p.Ala592=) n.2311C= n.2333C= | |
| 16 | g.50712260C>G | CA495779144 | NOD2 | c.2268C>G (p.Ala756=) c.67C>G c.2349C>G (p.Ala783=) c.1845C>G (p.Ala615=) c.1683C>G (p.Ala561=) n.2358C>G c.1776C>G (p.Ala592=) n.2311C>G n.2333C>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.50712260C>T | CA495779143 | NOD2 | c.2268C>T (p.Ala756=) c.67C>T c.2349C>T (p.Ala783=) c.1845C>T (p.Ala615=) c.1683C>T (p.Ala561=) n.2358C>T c.1776C>T (p.Ala592=) n.2311C>T n.2333C>T | ClinVar dbSNP |
| 16 | g.50712261T>A | CA395871933 | NOD2 | c.2269T>A (p.Phe757Ile) c.68T>A c.2350T>A (p.Phe784Ile) c.1846T>A (p.Phe616Ile) c.1684T>A (p.Phe562Ile) n.2359T>A c.1777T>A (p.Phe593Ile) n.2312T>A n.2334T>A | |
| 16 | g.50712261T>C | CA395871935 | NOD2 | c.2269T>C (p.Phe757Leu) c.68T>C c.2350T>C (p.Phe784Leu) c.1846T>C (p.Phe616Leu) c.1684T>C (p.Phe562Leu) n.2359T>C c.1777T>C (p.Phe593Leu) n.2312T>C n.2334T>C | |
| 16 | g.50712261T>G | CA395871937 | NOD2 | c.2269T>G (p.Phe757Val) c.68T>G c.2350T>G (p.Phe784Val) c.1846T>G (p.Phe616Val) c.1684T>G (p.Phe562Val) n.2359T>G c.1777T>G (p.Phe593Val) n.2312T>G n.2334T>G | |
| 16 | g.50712262T>A | CA395871939 | NOD2 | c.2270T>A (p.Phe757Tyr) c.69T>A c.2351T>A (p.Phe784Tyr) c.1847T>A (p.Phe616Tyr) c.1685T>A (p.Phe562Tyr) n.2360T>A c.1778T>A (p.Phe593Tyr) n.2313T>A n.2335T>A | |
| 16 | g.50712262T>C | CA395871941 | NOD2 | c.2270T>C (p.Phe757Ser) c.69T>C c.2351T>C (p.Phe784Ser) c.1847T>C (p.Phe616Ser) c.1685T>C (p.Phe562Ser) n.2360T>C c.1778T>C (p.Phe593Ser) n.2313T>C n.2335T>C | |
| 16 | g.50712262T>G | CA395871943 | NOD2 | c.2270T>G (p.Phe757Cys) c.69T>G c.2351T>G (p.Phe784Cys) c.1847T>G (p.Phe616Cys) c.1685T>G (p.Phe562Cys) n.2360T>G c.1778T>G (p.Phe593Cys) n.2313T>G n.2335T>G | |
| 16 | g.50712263T>A | CA395871944 | NOD2 | c.2271T>A (p.Phe757Leu) c.70T>A c.2352T>A (p.Phe784Leu) c.1848T>A (p.Phe616Leu) c.1686T>A (p.Phe562Leu) n.2361T>A c.1779T>A (p.Phe593Leu) n.2314T>A n.2336T>A | |
| 16 | g.50712263T>C | CA495779147 | NOD2 | c.2271T>C (p.Phe757=) c.70T>C c.2352T>C (p.Phe784=) c.1848T>C (p.Phe616=) c.1686T>C (p.Phe562=) n.2361T>C c.1779T>C (p.Phe593=) n.2314T>C n.2336T>C | |
| 16 | g.50712263T>G | CA395871945 | NOD2 | c.2271T>G (p.Phe757Leu) c.70T>G c.2352T>G (p.Phe784Leu) c.1848T>G (p.Phe616Leu) c.1686T>G (p.Phe562Leu) n.2361T>G c.1779T>G (p.Phe593Leu) n.2314T>G n.2336T>G |