| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |