| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.50712018C>A | CA395870932 | NOD2 | c.2026C>A (p.Arg676Ser) c.2107C>A (p.Arg703Ser) c.1603C>A (p.Arg535Ser) c.1441C>A (p.Arg481Ser) n.2116C>A c.1534C>A (p.Arg512Ser) n.2069C>A n.2091C>A | |
| 16 | g.50712018C= | CA2221862490 | NOD2 | c.2026C= (p.Arg676=) c.2107C= (p.Arg703=) c.1603C= (p.Arg535=) c.1441C= (p.Arg481=) n.2116C= c.1534C= (p.Arg512=) n.2069C= n.2091C= | |
| 16 | g.50712018C>G | CA8051693 | NOD2 | c.2026C>G (p.Arg676Gly) c.2107C>G (p.Arg703Gly) c.1603C>G (p.Arg535Gly) c.1441C>G (p.Arg481Gly) n.2116C>G c.1534C>G (p.Arg512Gly) n.2069C>G n.2091C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712018C>T | CA202825 | NOD2 | c.2026C>T (p.Arg676Cys) c.2107C>T (p.Arg703Cys) c.1603C>T (p.Arg535Cys) c.1441C>T (p.Arg481Cys) n.2116C>T c.1534C>T (p.Arg512Cys) n.2069C>T n.2091C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712019G>A | CA8051694 | NOD2 | c.2027G>A (p.Arg676His) c.2108G>A (p.Arg703His) c.1604G>A (p.Arg535His) c.1442G>A (p.Arg481His) n.2117G>A c.1535G>A (p.Arg512His) n.2070G>A n.2092G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712019G>C | CA395870938 | NOD2 | c.2027G>C (p.Arg676Pro) c.2108G>C (p.Arg703Pro) c.1604G>C (p.Arg535Pro) c.1442G>C (p.Arg481Pro) n.2117G>C c.1535G>C (p.Arg512Pro) n.2070G>C n.2092G>C | |
| 16 | g.50712019G= | CA2221862495 | NOD2 | c.2027G= (p.Arg676=) c.2108G= (p.Arg703=) c.1604G= (p.Arg535=) c.1442G= (p.Arg481=) n.2117G= c.1535G= (p.Arg512=) n.2070G= n.2092G= | |
| 16 | g.50712019G>T | CA395870935 | NOD2 | c.2027G>T (p.Arg676Leu) c.2108G>T (p.Arg703Leu) c.1604G>T (p.Arg535Leu) c.1442G>T (p.Arg481Leu) n.2117G>T c.1535G>T (p.Arg512Leu) n.2070G>T n.2092G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.50712020C>A | CA495779391 | NOD2 | c.2028C>A (p.Arg676=) c.2109C>A (p.Arg703=) c.1605C>A (p.Arg535=) c.1443C>A (p.Arg481=) n.2118C>A c.1536C>A (p.Arg512=) n.2071C>A n.2093C>A | |
| 16 | g.50712020C>G | CA495779392 | NOD2 | c.2028C>G (p.Arg676=) c.2109C>G (p.Arg703=) c.1605C>G (p.Arg535=) c.1443C>G (p.Arg481=) n.2118C>G c.1536C>G (p.Arg512=) n.2071C>G n.2093C>G | |
| 16 | g.50712020C>T | CA495779393 | NOD2 | c.2028C>T (p.Arg676=) c.2109C>T (p.Arg703=) c.1605C>T (p.Arg535=) c.1443C>T (p.Arg481=) n.2118C>T c.1536C>T (p.Arg512=) n.2071C>T n.2093C>T | |
| 16 | g.50712021C>A | CA395870940 | NOD2 | c.2029C>A (p.Gln677Lys) c.2110C>A (p.Gln704Lys) c.1606C>A (p.Gln536Lys) c.1444C>A (p.Gln482Lys) n.2119C>A c.1537C>A (p.Gln513Lys) n.2072C>A n.2094C>A | |
| 16 | g.50712021C= | CA2221862499 | NOD2 | c.2029C= (p.Gln677=) c.2110C= (p.Gln704=) c.1606C= (p.Gln536=) c.1444C= (p.Gln482=) n.2119C= c.1537C= (p.Gln513=) n.2072C= n.2094C= | |
| 16 | g.50712021C>G | CA395870942 | NOD2 | c.2029C>G (p.Gln677Glu) c.2110C>G (p.Gln704Glu) c.1606C>G (p.Gln536Glu) c.1444C>G (p.Gln482Glu) n.2119C>G c.1537C>G (p.Gln513Glu) n.2072C>G n.2094C>G | |
| 16 | g.50712021C>T | CA8051695 | NOD2 | c.2029C>T (p.Gln677Ter) c.2110C>T (p.Gln704Ter) c.1606C>T (p.Gln536Ter) c.1444C>T (p.Gln482Ter) n.2119C>T c.1537C>T (p.Gln513Ter) n.2072C>T n.2094C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712022A= | CA2221862507 | NOD2 | c.2030A= (p.Gln677=) c.2111A= (p.Gln704=) c.1607A= (p.Gln536=) c.1445A= (p.Gln482=) n.2120A= c.1538A= (p.Gln513=) n.2073A= n.2095A= | |
| 16 | g.50712022A>C | CA395870946 | NOD2 | c.2030A>C (p.Gln677Pro) c.2111A>C (p.Gln704Pro) c.1607A>C (p.Gln536Pro) c.1445A>C (p.Gln482Pro) n.2120A>C c.1538A>C (p.Gln513Pro) n.2073A>C n.2095A>C | |
| 16 | g.50712022A>G | CA8051696 | NOD2 | c.2030A>G (p.Gln677Arg) c.2111A>G (p.Gln704Arg) c.1607A>G (p.Gln536Arg) c.1445A>G (p.Gln482Arg) n.2120A>G c.1538A>G (p.Gln513Arg) n.2073A>G n.2095A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712022A>T | CA395870948 | NOD2 | c.2030A>T (p.Gln677Leu) c.2111A>T (p.Gln704Leu) c.1607A>T (p.Gln536Leu) c.1445A>T (p.Gln482Leu) n.2120A>T c.1538A>T (p.Gln513Leu) n.2073A>T n.2095A>T | |
| 16 | g.50712023G>A | CA281263860 | NOD2 | c.2031G>A (p.Gln677=) c.2112G>A (p.Gln704=) c.1608G>A (p.Gln536=) c.1446G>A (p.Gln482=) n.2121G>A c.1539G>A (p.Gln513=) n.2074G>A n.2096G>A | dbSNP |
| 16 | g.50712023G>C | CA395870952 | NOD2 | c.2031G>C (p.Gln677His) c.2112G>C (p.Gln704His) c.1608G>C (p.Gln536His) c.1446G>C (p.Gln482His) n.2121G>C c.1539G>C (p.Gln513His) n.2074G>C n.2096G>C | |
| 16 | g.50712023G= | CA2221862512 | NOD2 | c.2031G= (p.Gln677=) c.2112G= (p.Gln704=) c.1608G= (p.Gln536=) c.1446G= (p.Gln482=) n.2121G= c.1539G= (p.Gln513=) n.2074G= n.2096G= | |
| 16 | g.50712023G>T | CA395870950 | NOD2 | c.2031G>T (p.Gln677His) c.2112G>T (p.Gln704His) c.1608G>T (p.Gln536His) c.1446G>T (p.Gln482His) n.2121G>T c.1539G>T (p.Gln513His) n.2074G>T n.2096G>T | |
| 16 | g.50712024G>A | CA395870954 | NOD2 | c.2032G>A (p.Ala678Thr) c.2113G>A (p.Ala705Thr) c.1609G>A (p.Ala537Thr) c.1447G>A (p.Ala483Thr) n.2122G>A c.1540G>A (p.Ala514Thr) n.2075G>A n.2097G>A | dbSNP |
| 16 | g.50712024G>C | CA395870956 | NOD2 | c.2032G>C (p.Ala678Pro) c.2113G>C (p.Ala705Pro) c.1609G>C (p.Ala537Pro) c.1447G>C (p.Ala483Pro) n.2122G>C c.1540G>C (p.Ala514Pro) n.2075G>C n.2097G>C | gnomAD v4 |
| 16 | g.50712024G= | CA2221862516 | NOD2 | c.2032G= (p.Ala678=) c.2113G= (p.Ala705=) c.1609G= (p.Ala537=) c.1447G= (p.Ala483=) n.2122G= c.1540G= (p.Ala514=) n.2075G= n.2097G= | |
| 16 | g.50712024G>T | CA8051697 | NOD2 | c.2032G>T (p.Ala678Ser) c.2113G>T (p.Ala705Ser) c.1609G>T (p.Ala537Ser) c.1447G>T (p.Ala483Ser) n.2122G>T c.1540G>T (p.Ala514Ser) n.2075G>T n.2097G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712025C>A | CA395870958 | NOD2 | c.2033C>A (p.Ala678Asp) c.2114C>A (p.Ala705Asp) c.1610C>A (p.Ala537Asp) c.1448C>A (p.Ala483Asp) n.2123C>A c.1541C>A (p.Ala514Asp) n.2076C>A n.2098C>A | |
| 16 | g.50712025C= | CA2221862519 | NOD2 | c.2033C= (p.Ala678=) c.2114C= (p.Ala705=) c.1610C= (p.Ala537=) c.1448C= (p.Ala483=) n.2123C= c.1541C= (p.Ala514=) n.2076C= n.2098C= | |
| 16 | g.50712025C>G | CA395870960 | NOD2 | c.2033C>G (p.Ala678Gly) c.2114C>G (p.Ala705Gly) c.1610C>G (p.Ala537Gly) c.1448C>G (p.Ala483Gly) n.2123C>G c.1541C>G (p.Ala514Gly) n.2076C>G n.2098C>G | |
| 16 | g.50712025C>T | CA8051698 | NOD2 | c.2033C>T (p.Ala678Val) c.2114C>T (p.Ala705Val) c.1610C>T (p.Ala537Val) c.1448C>T (p.Ala483Val) n.2123C>T c.1541C>T (p.Ala514Val) n.2076C>T n.2098C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712026C>A | CA495779399 | NOD2 | c.2034C>A (p.Ala678=) c.2115C>A (p.Ala705=) c.1611C>A (p.Ala537=) c.1449C>A (p.Ala483=) n.2124C>A c.1542C>A (p.Ala514=) n.2077C>A n.2099C>A | |
| 16 | g.50712026C>G | CA495779400 | NOD2 | c.2034C>G (p.Ala678=) c.2115C>G (p.Ala705=) c.1611C>G (p.Ala537=) c.1449C>G (p.Ala483=) n.2124C>G c.1542C>G (p.Ala514=) n.2077C>G n.2099C>G | |
| 16 | g.50712026C>T | CA495779401 | NOD2 | c.2034C>T (p.Ala678=) c.2115C>T (p.Ala705=) c.1611C>T (p.Ala537=) c.1449C>T (p.Ala483=) n.2124C>T c.1542C>T (p.Ala514=) n.2077C>T n.2099C>T | |
| 16 | g.50712027T>A | CA395870964 | NOD2 | c.2035T>A (p.Cys679Ser) c.2116T>A (p.Cys706Ser) c.1612T>A (p.Cys538Ser) c.1450T>A (p.Cys484Ser) n.2125T>A c.1543T>A (p.Cys515Ser) n.2078T>A n.2100T>A | |
| 16 | g.50712027T>C | CA395870968 | NOD2 | c.2035T>C (p.Cys679Arg) c.2116T>C (p.Cys706Arg) c.1612T>C (p.Cys538Arg) c.1450T>C (p.Cys484Arg) n.2125T>C c.1543T>C (p.Cys515Arg) n.2078T>C n.2100T>C | |
| 16 | g.50712027T>G | CA395870966 | NOD2 | c.2035T>G (p.Cys679Gly) c.2116T>G (p.Cys706Gly) c.1612T>G (p.Cys538Gly) c.1450T>G (p.Cys484Gly) n.2125T>G c.1543T>G (p.Cys515Gly) n.2078T>G n.2100T>G | |
| 16 | g.50712028G>A | CA8051700 | NOD2 | c.2036G>A (p.Cys679Tyr) c.2117G>A (p.Cys706Tyr) c.1613G>A (p.Cys538Tyr) c.1451G>A (p.Cys484Tyr) n.2126G>A c.1544G>A (p.Cys515Tyr) n.2079G>A n.2101G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712028G>C | CA8051699 | NOD2 | c.2036G>C (p.Cys679Ser) c.2117G>C (p.Cys706Ser) c.1613G>C (p.Cys538Ser) c.1451G>C (p.Cys484Ser) n.2126G>C c.1544G>C (p.Cys515Ser) n.2079G>C n.2101G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712028G= | CA2221862523 | NOD2 | c.2036G= (p.Cys679=) c.2117G= (p.Cys706=) c.1613G= (p.Cys538=) c.1451G= (p.Cys484=) n.2126G= c.1544G= (p.Cys515=) n.2079G= n.2101G= | |
| 16 | g.50712028G>T | CA395870970 | NOD2 | c.2036G>T (p.Cys679Phe) c.2117G>T (p.Cys706Phe) c.1613G>T (p.Cys538Phe) c.1451G>T (p.Cys484Phe) n.2126G>T c.1544G>T (p.Cys515Phe) n.2079G>T n.2101G>T | |
| 16 | g.50712029T>A | CA395870972 | NOD2 | c.2037T>A (p.Cys679Ter) c.2118T>A (p.Cys706Ter) c.1614T>A (p.Cys538Ter) c.1452T>A (p.Cys484Ter) n.2127T>A c.1545T>A (p.Cys515Ter) n.2080T>A n.2102T>A | |
| 16 | g.50712029T>C | CA495779406 | NOD2 | c.2037T>C (p.Cys679=) c.2118T>C (p.Cys706=) c.1614T>C (p.Cys538=) c.1452T>C (p.Cys484=) n.2127T>C c.1545T>C (p.Cys515=) n.2080T>C n.2102T>C | |
| 16 | g.50712029T>G | CA395870973 | NOD2 | c.2037T>G (p.Cys679Trp) c.2118T>G (p.Cys706Trp) c.1614T>G (p.Cys538Trp) c.1452T>G (p.Cys484Trp) n.2127T>G c.1545T>G (p.Cys515Trp) n.2080T>G n.2102T>G | |
| 16 | g.50712030G>A | CA395870976 | NOD2 | c.2038G>A (p.Ala680Thr) c.2119G>A (p.Ala707Thr) c.1615G>A (p.Ala539Thr) c.1453G>A (p.Ala485Thr) n.2128G>A c.1546G>A (p.Ala516Thr) n.2081G>A n.2103G>A | |
| 16 | g.50712030G>C | CA395870977 | NOD2 | c.2038G>C (p.Ala680Pro) c.2119G>C (p.Ala707Pro) c.1615G>C (p.Ala539Pro) c.1453G>C (p.Ala485Pro) n.2128G>C c.1546G>C (p.Ala516Pro) n.2081G>C n.2103G>C | |
| 16 | g.50712030G>T | CA395870979 | NOD2 | c.2038G>T (p.Ala680Ser) c.2119G>T (p.Ala707Ser) c.1615G>T (p.Ala539Ser) c.1453G>T (p.Ala485Ser) n.2128G>T c.1546G>T (p.Ala516Ser) n.2081G>T n.2103G>T | |
| 16 | g.50712031C>A | CA395870981 | NOD2 | c.2039C>A (p.Ala680Asp) c.2120C>A (p.Ala707Asp) c.1616C>A (p.Ala539Asp) c.1454C>A (p.Ala485Asp) n.2129C>A c.1547C>A (p.Ala516Asp) n.2082C>A n.2104C>A | |
| 16 | g.50712031C= | CA2221862525 | NOD2 | c.2039C= (p.Ala680=) c.2120C= (p.Ala707=) c.1616C= (p.Ala539=) c.1454C= (p.Ala485=) n.2129C= c.1547C= (p.Ala516=) n.2082C= n.2104C= | |
| 16 | g.50712031C>G | CA8051701 | NOD2 | c.2039C>G (p.Ala680Gly) c.2120C>G (p.Ala707Gly) c.1616C>G (p.Ala539Gly) c.1454C>G (p.Ala485Gly) n.2129C>G c.1547C>G (p.Ala516Gly) n.2082C>G n.2104C>G | dbSNP ExAC gnomAD v2 |