Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.50711954G>A | CA495779278 | NOD2 | c.1962G>A (p.Leu654=) c.2043G>A (p.Leu681=) c.1539G>A (p.Leu513=) c.1377G>A (p.Leu459=) n.2052G>A c.1470G>A (p.Leu490=) n.2005G>A n.2027G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50711954G>C | CA495779279 | NOD2 | c.1962G>C (p.Leu654=) c.2043G>C (p.Leu681=) c.1539G>C (p.Leu513=) c.1377G>C (p.Leu459=) n.2052G>C c.1470G>C (p.Leu490=) n.2005G>C n.2027G>C | |
16 | g.50711954G= | CA2221862383 | NOD2 | c.1962G= (p.Leu654=) c.2043G= (p.Leu681=) c.1539G= (p.Leu513=) c.1377G= (p.Leu459=) n.2052G= c.1470G= (p.Leu490=) n.2005G= n.2027G= | |
16 | g.50711954G>T | CA495779280 | NOD2 | c.1962G>T (p.Leu654=) c.2043G>T (p.Leu681=) c.1539G>T (p.Leu513=) c.1377G>T (p.Leu459=) n.2052G>T c.1470G>T (p.Leu490=) n.2005G>T n.2027G>T | |
16 | g.50711955T>A | CA395870675 | NOD2 | c.1963T>A (p.Leu655Met) c.2044T>A (p.Leu682Met) c.1540T>A (p.Leu514Met) c.1378T>A (p.Leu460Met) n.2053T>A c.1471T>A (p.Leu491Met) n.2006T>A n.2028T>A | |
16 | g.50711955T>C | CA495779281 | NOD2 | c.1963T>C (p.Leu655=) c.2044T>C (p.Leu682=) c.1540T>C (p.Leu514=) c.1378T>C (p.Leu460=) n.2053T>C c.1471T>C (p.Leu491=) n.2006T>C n.2028T>C | |
16 | g.50711955T>G | CA395870676 | NOD2 | c.1963T>G (p.Leu655Val) c.2044T>G (p.Leu682Val) c.1540T>G (p.Leu514Val) c.1378T>G (p.Leu460Val) n.2053T>G c.1471T>G (p.Leu491Val) n.2006T>G n.2028T>G | |
16 | g.50711956T>A | CA395870678 | NOD2 | c.1964T>A (p.Leu655Ter) c.2045T>A (p.Leu682Ter) c.1541T>A (p.Leu514Ter) c.1379T>A (p.Leu460Ter) n.2054T>A c.1472T>A (p.Leu491Ter) n.2007T>A n.2029T>A | |
16 | g.50711956T>C | CA395870680 | NOD2 | c.1964T>C (p.Leu655Ser) c.2045T>C (p.Leu682Ser) c.1541T>C (p.Leu514Ser) c.1379T>C (p.Leu460Ser) n.2054T>C c.1472T>C (p.Leu491Ser) n.2007T>C n.2029T>C | |
16 | g.50711956T>G | CA395870681 | NOD2 | c.1964T>G (p.Leu655Trp) c.2045T>G (p.Leu682Trp) c.1541T>G (p.Leu514Trp) c.1379T>G (p.Leu460Trp) n.2054T>G c.1472T>G (p.Leu491Trp) n.2007T>G n.2029T>G | |
16 | g.50711957del | CA2633164534 | NOD2 | c.1965del (p.Leu655PhefsTer?) c.2046del (p.Leu682PhefsTer?) c.1542del (p.Leu514PhefsTer?) c.1380del (p.Leu460PhefsTer?) n.2055del c.1473del (p.Leu491PhefsTer?) n.2008del n.2030del | gnomAD v4 |
16 | g.50711957G>A | CA495779285 | NOD2 | c.1965G>A (p.Leu655=) c.2046G>A (p.Leu682=) c.1542G>A (p.Leu514=) c.1380G>A (p.Leu460=) n.2055G>A c.1473G>A (p.Leu491=) n.2008G>A n.2030G>A | |
16 | g.50711957G>C | CA395870683 | NOD2 | c.1965G>C (p.Leu655Phe) c.2046G>C (p.Leu682Phe) c.1542G>C (p.Leu514Phe) c.1380G>C (p.Leu460Phe) n.2055G>C c.1473G>C (p.Leu491Phe) n.2008G>C n.2030G>C | |
16 | g.50711957G= | CA2221862389 | NOD2 | c.1965G= (p.Leu655=) c.2046G= (p.Leu682=) c.1542G= (p.Leu514=) c.1380G= (p.Leu460=) n.2055G= c.1473G= (p.Leu491=) n.2008G= n.2030G= | |
16 | g.50711957G>T | CA8051681 | NOD2 | c.1965G>T (p.Leu655Phe) c.2046G>T (p.Leu682Phe) c.1542G>T (p.Leu514Phe) c.1380G>T (p.Leu460Phe) n.2055G>T c.1473G>T (p.Leu491Phe) n.2008G>T n.2030G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50711958T>A | CA395870691 | NOD2 | c.1966T>A (p.Ser656Thr) c.2047T>A (p.Ser683Thr) c.1543T>A (p.Ser515Thr) c.1381T>A (p.Ser461Thr) n.2056T>A c.1474T>A (p.Ser492Thr) n.2009T>A n.2031T>A | |
16 | g.50711958T>C | CA395870687 | NOD2 | c.1966T>C (p.Ser656Pro) c.2047T>C (p.Ser683Pro) c.1543T>C (p.Ser515Pro) c.1381T>C (p.Ser461Pro) n.2056T>C c.1474T>C (p.Ser492Pro) n.2009T>C n.2031T>C | |
16 | g.50711958T>G | CA395870689 | NOD2 | c.1966T>G (p.Ser656Ala) c.2047T>G (p.Ser683Ala) c.1543T>G (p.Ser515Ala) c.1381T>G (p.Ser461Ala) n.2056T>G c.1474T>G (p.Ser492Ala) n.2009T>G n.2031T>G | |
16 | g.50711959C>A | CA395870693 | NOD2 | c.1967C>A (p.Ser656Tyr) c.2048C>A (p.Ser683Tyr) c.1544C>A (p.Ser515Tyr) c.1382C>A (p.Ser461Tyr) n.2057C>A c.1475C>A (p.Ser492Tyr) n.2010C>A n.2032C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50711959C= | CA2221862394 | NOD2 | c.1967C= (p.Ser656=) c.2048C= (p.Ser683=) c.1544C= (p.Ser515=) c.1382C= (p.Ser461=) n.2057C= c.1475C= (p.Ser492=) n.2010C= n.2032C= | |
16 | g.50711959C>G | CA395870695 | NOD2 | c.1967C>G (p.Ser656Cys) c.2048C>G (p.Ser683Cys) c.1544C>G (p.Ser515Cys) c.1382C>G (p.Ser461Cys) n.2057C>G c.1475C>G (p.Ser492Cys) n.2010C>G n.2032C>G | |
16 | g.50711959C>T | CA395870696 | NOD2 | c.1967C>T (p.Ser656Phe) c.2048C>T (p.Ser683Phe) c.1544C>T (p.Ser515Phe) c.1382C>T (p.Ser461Phe) n.2057C>T c.1475C>T (p.Ser492Phe) n.2010C>T n.2032C>T | |
16 | g.50711960C>A | CA495779287 | NOD2 | c.1968C>A (p.Ser656=) c.2049C>A (p.Ser683=) c.1545C>A (p.Ser515=) c.1383C>A (p.Ser461=) n.2058C>A c.1476C>A (p.Ser492=) n.2011C>A n.2033C>A | |
16 | g.50711960C= | CA2221862396 | NOD2 | c.1968C= (p.Ser656=) c.2049C= (p.Ser683=) c.1545C= (p.Ser515=) c.1383C= (p.Ser461=) n.2058C= c.1476C= (p.Ser492=) n.2011C= n.2033C= | |
16 | g.50711960C>G | CA495779288 | NOD2 | c.1968C>G (p.Ser656=) c.2049C>G (p.Ser683=) c.1545C>G (p.Ser515=) c.1383C>G (p.Ser461=) n.2058C>G c.1476C>G (p.Ser492=) n.2011C>G n.2033C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50711960C>T | CA495779289 | NOD2 | c.1968C>T (p.Ser656=) c.2049C>T (p.Ser683=) c.1545C>T (p.Ser515=) c.1383C>T (p.Ser461=) n.2058C>T c.1476C>T (p.Ser492=) n.2011C>T n.2033C>T | |
16 | g.50711961C>A | CA495779290 | NOD2 | c.1969C>A (p.Arg657=) c.2050C>A (p.Arg684=) c.1546C>A (p.Arg516=) c.1384C>A (p.Arg462=) n.2059C>A c.1477C>A (p.Arg493=) n.2012C>A n.2034C>A | |
16 | g.50711961C= | CA2221862400 | NOD2 | c.1969C= (p.Arg657=) c.2050C= (p.Arg684=) c.1546C= (p.Arg516=) c.1384C= (p.Arg462=) n.2059C= c.1477C= (p.Arg493=) n.2012C= n.2034C= | |
16 | g.50711961C>G | CA8051683 | NOD2 | c.1969C>G (p.Arg657Gly) c.2050C>G (p.Arg684Gly) c.1546C>G (p.Arg516Gly) c.1384C>G (p.Arg462Gly) n.2059C>G c.1477C>G (p.Arg493Gly) n.2012C>G n.2034C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50711961C>T | CA8051682 | NOD2 | c.1969C>T (p.Arg657Trp) c.2050C>T (p.Arg684Trp) c.1546C>T (p.Arg516Trp) c.1384C>T (p.Arg462Trp) n.2059C>T c.1477C>T (p.Arg493Trp) n.2012C>T n.2034C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50711962G>A | CA8051684 | NOD2 | c.1970G>A (p.Arg657Gln) c.2051G>A (p.Arg684Gln) c.1547G>A (p.Arg516Gln) c.1385G>A (p.Arg462Gln) n.2060G>A c.1478G>A (p.Arg493Gln) n.2013G>A n.2035G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50711962G>C | CA395870699 | NOD2 | c.1970G>C (p.Arg657Pro) c.2051G>C (p.Arg684Pro) c.1547G>C (p.Arg516Pro) c.1385G>C (p.Arg462Pro) n.2060G>C c.1478G>C (p.Arg493Pro) n.2013G>C n.2035G>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50711962G= | CA2221862406 | NOD2 | c.1970G= (p.Arg657=) c.2051G= (p.Arg684=) c.1547G= (p.Arg516=) c.1385G= (p.Arg462=) n.2060G= c.1478G= (p.Arg493=) n.2013G= n.2035G= | |
16 | g.50711962G>T | CA395870701 | NOD2 | c.1970G>T (p.Arg657Leu) c.2051G>T (p.Arg684Leu) c.1547G>T (p.Arg516Leu) c.1385G>T (p.Arg462Leu) n.2060G>T c.1478G>T (p.Arg493Leu) n.2013G>T n.2035G>T | gnomAD v4 |
16 | g.50711964del | CA2839856488 | NOD2 | c.1972del (p.Glu658SerfsTer?) c.2053del (p.Glu685SerfsTer?) c.1549del (p.Glu517SerfsTer?) c.1387del (p.Glu463SerfsTer?) n.2062del c.1480del (p.Glu494SerfsTer?) n.2015del n.2037del | |
16 | g.50711963G>A | CA495779291 | NOD2 | c.1971G>A (p.Arg657=) c.2052G>A (p.Arg684=) c.1548G>A (p.Arg516=) c.1386G>A (p.Arg462=) n.2061G>A c.1479G>A (p.Arg493=) n.2014G>A n.2036G>A | |
16 | g.50711963G>C | CA495779292 | NOD2 | c.1971G>C (p.Arg657=) c.2052G>C (p.Arg684=) c.1548G>C (p.Arg516=) c.1386G>C (p.Arg462=) n.2061G>C c.1479G>C (p.Arg493=) n.2014G>C n.2036G>C | |
16 | g.50711963G>T | CA495779293 | NOD2 | c.1971G>T (p.Arg657=) c.2052G>T (p.Arg684=) c.1548G>T (p.Arg516=) c.1386G>T (p.Arg462=) n.2061G>T c.1479G>T (p.Arg493=) n.2014G>T n.2036G>T | |
16 | g.50711964G>A | CA395870703 | NOD2 | c.1972G>A (p.Glu658Lys) c.2053G>A (p.Glu685Lys) c.1549G>A (p.Glu517Lys) c.1387G>A (p.Glu463Lys) n.2062G>A c.1480G>A (p.Glu494Lys) n.2015G>A n.2037G>A | |
16 | g.50711964G>C | CA395870704 | NOD2 | c.1972G>C (p.Glu658Gln) c.2053G>C (p.Glu685Gln) c.1549G>C (p.Glu517Gln) c.1387G>C (p.Glu463Gln) n.2062G>C c.1480G>C (p.Glu494Gln) n.2015G>C n.2037G>C | |
16 | g.50711964G>T | CA395870706 | NOD2 | c.1972G>T (p.Glu658Ter) c.2053G>T (p.Glu685Ter) c.1549G>T (p.Glu517Ter) c.1387G>T (p.Glu463Ter) n.2062G>T c.1480G>T (p.Glu494Ter) n.2015G>T n.2037G>T | |
16 | g.50711965A>C | CA395870712 | NOD2 | c.1973A>C (p.Glu658Ala) c.2054A>C (p.Glu685Ala) c.1550A>C (p.Glu517Ala) c.1388A>C (p.Glu463Ala) n.2063A>C c.1481A>C (p.Glu494Ala) n.2016A>C n.2038A>C | |
16 | g.50711965A>G | CA395870710 | NOD2 | c.1973A>G (p.Glu658Gly) c.2054A>G (p.Glu685Gly) c.1550A>G (p.Glu517Gly) c.1388A>G (p.Glu463Gly) n.2063A>G c.1481A>G (p.Glu494Gly) n.2016A>G n.2038A>G | |
16 | g.50711965A>T | CA395870708 | NOD2 | c.1973A>T (p.Glu658Val) c.2054A>T (p.Glu685Val) c.1550A>T (p.Glu517Val) c.1388A>T (p.Glu463Val) n.2063A>T c.1481A>T (p.Glu494Val) n.2016A>T n.2038A>T | |
16 | g.50711966G>A | CA495779295 | NOD2 | c.1974G>A (p.Glu658=) c.2055G>A (p.Glu685=) c.1551G>A (p.Glu517=) c.1389G>A (p.Glu463=) n.2064G>A c.1482G>A (p.Glu494=) n.2017G>A n.2039G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50711966G>C | CA395870714 | NOD2 | c.1974G>C (p.Glu658Asp) c.2055G>C (p.Glu685Asp) c.1551G>C (p.Glu517Asp) c.1389G>C (p.Glu463Asp) n.2064G>C c.1482G>C (p.Glu494Asp) n.2017G>C n.2039G>C | |
16 | g.50711966G= | CA2221862410 | NOD2 | c.1974G= (p.Glu658=) c.2055G= (p.Glu685=) c.1551G= (p.Glu517=) c.1389G= (p.Glu463=) n.2064G= c.1482G= (p.Glu494=) n.2017G= n.2039G= | |
16 | g.50711966G>T | CA395870716 | NOD2 | c.1974G>T (p.Glu658Asp) c.2055G>T (p.Glu685Asp) c.1551G>T (p.Glu517Asp) c.1389G>T (p.Glu463Asp) n.2064G>T c.1482G>T (p.Glu494Asp) n.2017G>T n.2039G>T | |
16 | g.50711967C>A | CA395870718 | NOD2 | c.1975C>A (p.His659Asn) c.2056C>A (p.His686Asn) c.1552C>A (p.His518Asn) c.1390C>A (p.His464Asn) n.2065C>A c.1483C>A (p.His495Asn) n.2018C>A n.2040C>A | |
16 | g.50711967C>G | CA395870720 | NOD2 | c.1975C>G (p.His659Asp) c.2056C>G (p.His686Asp) c.1552C>G (p.His518Asp) c.1390C>G (p.His464Asp) n.2065C>G c.1483C>G (p.His495Asp) n.2018C>G n.2040C>G | |
16 | g.50711967C>T | CA395870723 | NOD2 | c.1975C>T (p.His659Tyr) c.2056C>T (p.His686Tyr) c.1552C>T (p.His518Tyr) c.1390C>T (p.His464Tyr) n.2065C>T c.1483C>T (p.His495Tyr) n.2018C>T n.2040C>T | |
16 | g.50711968A= | CA2221862415 | NOD2 | c.1976A= (p.His659=) c.2057A= (p.His686=) c.1553A= (p.His518=) c.1391A= (p.His464=) n.2066A= c.1484A= (p.His495=) n.2019A= n.2041A= | |
16 | g.50711968A>C | CA8051685 | NOD2 | c.1976A>C (p.His659Pro) c.2057A>C (p.His686Pro) c.1553A>C (p.His518Pro) c.1391A>C (p.His464Pro) n.2066A>C c.1484A>C (p.His495Pro) n.2019A>C n.2041A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50711968A>G | CA395870725 | NOD2 | c.1976A>G (p.His659Arg) c.2057A>G (p.His686Arg) c.1553A>G (p.His518Arg) c.1391A>G (p.His464Arg) n.2066A>G c.1484A>G (p.His495Arg) n.2019A>G n.2041A>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50711968A>T | CA395870727 | NOD2 | c.1976A>T (p.His659Leu) c.2057A>T (p.His686Leu) c.1553A>T (p.His518Leu) c.1391A>T (p.His464Leu) n.2066A>T c.1484A>T (p.His495Leu) n.2019A>T n.2041A>T | |
16 | g.50711969C>A | CA395870729 | NOD2 | c.1977C>A (p.His659Gln) c.2058C>A (p.His686Gln) c.1554C>A (p.His518Gln) c.1392C>A (p.His464Gln) n.2067C>A c.1485C>A (p.His495Gln) n.2020C>A n.2042C>A | |
16 | g.50711969C>G | CA395870731 | NOD2 | c.1977C>G (p.His659Gln) c.2058C>G (p.His686Gln) c.1554C>G (p.His518Gln) c.1392C>G (p.His464Gln) n.2067C>G c.1485C>G (p.His495Gln) n.2020C>G n.2042C>G | |
16 | g.50711969C>T | CA495779297 | NOD2 | c.1977C>T (p.His659=) c.2058C>T (p.His686=) c.1554C>T (p.His518=) c.1392C>T (p.His464=) n.2067C>T c.1485C>T (p.His495=) n.2020C>T n.2042C>T | |
16 | g.50711970T>A | CA395870733 | NOD2 | c.1978T>A (p.Trp660Arg) c.2059T>A (p.Trp687Arg) c.1555T>A (p.Trp519Arg) c.1393T>A (p.Trp465Arg) n.2068T>A c.1486T>A (p.Trp496Arg) n.2021T>A n.2043T>A | |
16 | g.50711970T>C | CA395870735 | NOD2 | c.1978T>C (p.Trp660Arg) c.2059T>C (p.Trp687Arg) c.1555T>C (p.Trp519Arg) c.1393T>C (p.Trp465Arg) n.2068T>C c.1486T>C (p.Trp496Arg) n.2021T>C n.2043T>C | |
16 | g.50711970T>G | CA395870737 | NOD2 | c.1978T>G (p.Trp660Gly) c.2059T>G (p.Trp687Gly) c.1555T>G (p.Trp519Gly) c.1393T>G (p.Trp465Gly) n.2068T>G c.1486T>G (p.Trp496Gly) n.2021T>G n.2043T>G | |
16 | g.50711971G>A | CA395870743 | NOD2 | c.1979G>A (p.Trp660Ter) c.2060G>A (p.Trp687Ter) c.1556G>A (p.Trp519Ter) c.1394G>A (p.Trp465Ter) n.2069G>A c.1487G>A (p.Trp496Ter) n.2022G>A n.2044G>A | gnomAD v4 |
16 | g.50711971G>C | CA395870739 | NOD2 | c.1979G>C (p.Trp660Ser) c.2060G>C (p.Trp687Ser) c.1556G>C (p.Trp519Ser) c.1394G>C (p.Trp465Ser) n.2069G>C c.1487G>C (p.Trp496Ser) n.2022G>C n.2044G>C | |
16 | g.50711971G>T | CA395870741 | NOD2 | c.1979G>T (p.Trp660Leu) c.2060G>T (p.Trp687Leu) c.1556G>T (p.Trp519Leu) c.1394G>T (p.Trp465Leu) n.2069G>T c.1487G>T (p.Trp496Leu) n.2022G>T n.2044G>T | |
16 | g.50711974del | CA2841590995 | NOD2 | c.1982del (p.Gly661AlafsTer?) c.2063del (p.Gly688AlafsTer?) c.1559del (p.Gly520AlafsTer?) c.1397del (p.Gly466AlafsTer?) n.2072del c.1490del (p.Gly497AlafsTer?) n.2025del n.2047del | |
16 | g.50711972G>A | CA8051686 | NOD2 | c.1980G>A (p.Trp660Ter) c.2061G>A (p.Trp687Ter) c.1557G>A (p.Trp519Ter) c.1395G>A (p.Trp465Ter) n.2070G>A c.1488G>A (p.Trp496Ter) n.2023G>A n.2045G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50711972G>C | CA395870746 | NOD2 | c.1980G>C (p.Trp660Cys) c.2061G>C (p.Trp687Cys) c.1557G>C (p.Trp519Cys) c.1395G>C (p.Trp465Cys) n.2070G>C c.1488G>C (p.Trp496Cys) n.2023G>C n.2045G>C | |
16 | g.50711972G= | CA2221862420 | NOD2 | c.1980G= (p.Trp660=) c.2061G= (p.Trp687=) c.1557G= (p.Trp519=) c.1395G= (p.Trp465=) n.2070G= c.1488G= (p.Trp496=) n.2023G= n.2045G= | |
16 | g.50711972G>T | CA395870748 | NOD2 | c.1980G>T (p.Trp660Cys) c.2061G>T (p.Trp687Cys) c.1557G>T (p.Trp519Cys) c.1395G>T (p.Trp465Cys) n.2070G>T c.1488G>T (p.Trp496Cys) n.2023G>T n.2045G>T | |
16 | g.50711973G>A | CA395870750 | NOD2 | c.1981G>A (p.Gly661Ser) c.2062G>A (p.Gly688Ser) c.1558G>A (p.Gly520Ser) c.1396G>A (p.Gly466Ser) n.2071G>A c.1489G>A (p.Gly497Ser) n.2024G>A n.2046G>A | gnomAD v4 |
16 | g.50711973G>C | CA395870752 | NOD2 | c.1981G>C (p.Gly661Arg) c.2062G>C (p.Gly688Arg) c.1558G>C (p.Gly520Arg) c.1396G>C (p.Gly466Arg) n.2071G>C c.1489G>C (p.Gly497Arg) n.2024G>C n.2046G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50711973G= | CA2221862423 | NOD2 | c.1981G= (p.Gly661=) c.2062G= (p.Gly688=) c.1558G= (p.Gly520=) c.1396G= (p.Gly466=) n.2071G= c.1489G= (p.Gly497=) n.2024G= n.2046G= | |
16 | g.50711973G>T | CA395870754 | NOD2 | c.1981G>T (p.Gly661Cys) c.2062G>T (p.Gly688Cys) c.1558G>T (p.Gly520Cys) c.1396G>T (p.Gly466Cys) n.2071G>T c.1489G>T (p.Gly497Cys) n.2024G>T n.2046G>T | gnomAD v4 |
16 | g.50711974G>A | CA395870756 | NOD2 | c.1982G>A (p.Gly661Asp) c.2063G>A (p.Gly688Asp) c.1559G>A (p.Gly520Asp) c.1397G>A (p.Gly466Asp) n.2072G>A c.1490G>A (p.Gly497Asp) n.2025G>A n.2047G>A | dbSNP |
16 | g.50711974G>C | CA395870758 | NOD2 | c.1982G>C (p.Gly661Ala) c.2063G>C (p.Gly688Ala) c.1559G>C (p.Gly520Ala) c.1397G>C (p.Gly466Ala) n.2072G>C c.1490G>C (p.Gly497Ala) n.2025G>C n.2047G>C | |
16 | g.50711974G= | CA2221862427 | NOD2 | c.1982G= (p.Gly661=) c.2063G= (p.Gly688=) c.1559G= (p.Gly520=) c.1397G= (p.Gly466=) n.2072G= c.1490G= (p.Gly497=) n.2025G= n.2047G= | |
16 | g.50711974G>T | CA395870759 | NOD2 | c.1982G>T (p.Gly661Val) c.2063G>T (p.Gly688Val) c.1559G>T (p.Gly520Val) c.1397G>T (p.Gly466Val) n.2072G>T c.1490G>T (p.Gly497Val) n.2025G>T n.2047G>T | |
16 | g.50711977_50711991del | CA2633164535 | NOD2 | c.1985_1999del (p.Leu662_Cys666del) c.2066_2080del (p.Leu689_Cys693del) c.1562_1576del (p.Leu521_Cys525del) c.1400_1414del (p.Leu467_Cys471del) n.2075_2089del c.1493_1507del (p.Leu498_Cys502del) n.2028_2042del n.2050_2064del | gnomAD v4 |
16 | g.50711975C>A | CA495779302 | NOD2 | c.1983C>A (p.Gly661=) c.2064C>A (p.Gly688=) c.1560C>A (p.Gly520=) c.1398C>A (p.Gly466=) n.2073C>A c.1491C>A (p.Gly497=) n.2026C>A n.2048C>A | |
16 | g.50711975C>G | CA495779304 | NOD2 | c.1983C>G (p.Gly661=) c.2064C>G (p.Gly688=) c.1560C>G (p.Gly520=) c.1398C>G (p.Gly466=) n.2073C>G c.1491C>G (p.Gly497=) n.2026C>G n.2048C>G | |
16 | g.50711975C>T | CA495779306 | NOD2 | c.1983C>T (p.Gly661=) c.2064C>T (p.Gly688=) c.1560C>T (p.Gly520=) c.1398C>T (p.Gly466=) n.2073C>T c.1491C>T (p.Gly497=) n.2026C>T n.2048C>T | |
16 | g.50711976C>A | CA395870761 | NOD2 | c.1984C>A (p.Leu662Met) c.2065C>A (p.Leu689Met) c.1561C>A (p.Leu521Met) c.1399C>A (p.Leu467Met) n.2074C>A c.1492C>A (p.Leu498Met) n.2027C>A n.2049C>A | |
16 | g.50711976C>G | CA395870763 | NOD2 | c.1984C>G (p.Leu662Val) c.2065C>G (p.Leu689Val) c.1561C>G (p.Leu521Val) c.1399C>G (p.Leu467Val) n.2074C>G c.1492C>G (p.Leu498Val) n.2027C>G n.2049C>G | gnomAD v4 |
16 | g.50711976C>T | CA495779307 | NOD2 | c.1984C>T (p.Leu662=) c.2065C>T (p.Leu689=) c.1561C>T (p.Leu521=) c.1399C>T (p.Leu467=) n.2074C>T c.1492C>T (p.Leu498=) n.2027C>T n.2049C>T | |
16 | g.50711977T>A | CA395870769 | NOD2 | c.1985T>A (p.Leu662Gln) c.2066T>A (p.Leu689Gln) c.1562T>A (p.Leu521Gln) c.1400T>A (p.Leu467Gln) n.2075T>A c.1493T>A (p.Leu498Gln) n.2028T>A n.2050T>A | |
16 | g.50711977T>C | CA395870767 | NOD2 | c.1985T>C (p.Leu662Pro) c.2066T>C (p.Leu689Pro) c.1562T>C (p.Leu521Pro) c.1400T>C (p.Leu467Pro) n.2075T>C c.1493T>C (p.Leu498Pro) n.2028T>C n.2050T>C | |
16 | g.50711977T>G | CA395870765 | NOD2 | c.1985T>G (p.Leu662Arg) c.2066T>G (p.Leu689Arg) c.1562T>G (p.Leu521Arg) c.1400T>G (p.Leu467Arg) n.2075T>G c.1493T>G (p.Leu498Arg) n.2028T>G n.2050T>G | |
16 | g.50711978G>A | CA495779308 | NOD2 | c.1986G>A (p.Leu662=) c.2067G>A (p.Leu689=) c.1563G>A (p.Leu521=) c.1401G>A (p.Leu467=) n.2076G>A c.1494G>A (p.Leu498=) n.2029G>A n.2051G>A | |
16 | g.50711978G>C | CA495779309 | NOD2 | c.1986G>C (p.Leu662=) c.2067G>C (p.Leu689=) c.1563G>C (p.Leu521=) c.1401G>C (p.Leu467=) n.2076G>C c.1494G>C (p.Leu498=) n.2029G>C n.2051G>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50711978G= | CA2221862430 | NOD2 | c.1986G= (p.Leu662=) c.2067G= (p.Leu689=) c.1563G= (p.Leu521=) c.1401G= (p.Leu467=) n.2076G= c.1494G= (p.Leu498=) n.2029G= n.2051G= | |
16 | g.50711978G>T | CA495779310 | NOD2 | c.1986G>T (p.Leu662=) c.2067G>T (p.Leu689=) c.1563G>T (p.Leu521=) c.1401G>T (p.Leu467=) n.2076G>T c.1494G>T (p.Leu498=) n.2029G>T n.2051G>T | |
16 | g.50711979C>A | CA395870771 | NOD2 | c.1987C>A (p.Leu663Met) c.2068C>A (p.Leu690Met) c.1564C>A (p.Leu522Met) c.1402C>A (p.Leu468Met) n.2077C>A c.1495C>A (p.Leu499Met) n.2030C>A n.2052C>A | gnomAD v4 |
16 | g.50711979C= | CA2221862433 | NOD2 | c.1987C= (p.Leu663=) c.2068C= (p.Leu690=) c.1564C= (p.Leu522=) c.1402C= (p.Leu468=) n.2077C= c.1495C= (p.Leu499=) n.2030C= n.2052C= | |
16 | g.50711979C>G | CA395870773 | NOD2 | c.1987C>G (p.Leu663Val) c.2068C>G (p.Leu690Val) c.1564C>G (p.Leu522Val) c.1402C>G (p.Leu468Val) n.2077C>G c.1495C>G (p.Leu499Val) n.2030C>G n.2052C>G | |
16 | g.50711979C>T | CA495779311 | NOD2 | c.1987C>T (p.Leu663=) c.2068C>T (p.Leu690=) c.1564C>T (p.Leu522=) c.1402C>T (p.Leu468=) n.2077C>T c.1495C>T (p.Leu499=) n.2030C>T n.2052C>T | dbSNP |
16 | g.50711980T>A | CA395870775 | NOD2 | c.1988T>A (p.Leu663Gln) c.2069T>A (p.Leu690Gln) c.1565T>A (p.Leu522Gln) c.1403T>A (p.Leu468Gln) n.2078T>A c.1496T>A (p.Leu499Gln) n.2031T>A n.2053T>A | |
16 | g.50711980T>C | CA395870778 | NOD2 | c.1988T>C (p.Leu663Pro) c.2069T>C (p.Leu690Pro) c.1565T>C (p.Leu522Pro) c.1403T>C (p.Leu468Pro) n.2078T>C c.1496T>C (p.Leu499Pro) n.2031T>C n.2053T>C | |
16 | g.50711980T>G | CA395870780 | NOD2 | c.1988T>G (p.Leu663Arg) c.2069T>G (p.Leu690Arg) c.1565T>G (p.Leu522Arg) c.1403T>G (p.Leu468Arg) n.2078T>G c.1496T>G (p.Leu499Arg) n.2031T>G n.2053T>G | |
16 | g.50711981G>A | CA8051687 | NOD2 | c.1989G>A (p.Leu663=) c.2070G>A (p.Leu690=) c.1566G>A (p.Leu522=) c.1404G>A (p.Leu468=) n.2079G>A c.1497G>A (p.Leu499=) n.2032G>A n.2054G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50711981G>C | CA495779312 | NOD2 | c.1989G>C (p.Leu663=) c.2070G>C (p.Leu690=) c.1566G>C (p.Leu522=) c.1404G>C (p.Leu468=) n.2079G>C c.1497G>C (p.Leu499=) n.2032G>C n.2054G>C | |
16 | g.50711981G= | CA2221862436 | NOD2 | c.1989G= (p.Leu663=) c.2070G= (p.Leu690=) c.1566G= (p.Leu522=) c.1404G= (p.Leu468=) n.2079G= c.1497G= (p.Leu499=) n.2032G= n.2054G= | |
16 | g.50711981G>T | CA495779313 | NOD2 | c.1989G>T (p.Leu663=) c.2070G>T (p.Leu690=) c.1566G>T (p.Leu522=) c.1404G>T (p.Leu468=) n.2079G>T c.1497G>T (p.Leu499=) n.2032G>T n.2054G>T | dbSNP gnomAD v4 |
16 | g.50711982G>A | CA395870783 | NOD2 | c.1990G>A (p.Ala664Thr) c.2071G>A (p.Ala691Thr) c.1567G>A (p.Ala523Thr) c.1405G>A (p.Ala469Thr) n.2080G>A c.1498G>A (p.Ala500Thr) n.2033G>A n.2055G>A | |
16 | g.50711982G>C | CA395870785 | NOD2 | c.1990G>C (p.Ala664Pro) c.2071G>C (p.Ala691Pro) c.1567G>C (p.Ala523Pro) c.1405G>C (p.Ala469Pro) n.2080G>C c.1498G>C (p.Ala500Pro) n.2033G>C n.2055G>C | |
16 | g.50711982G>T | CA395870787 | NOD2 | c.1990G>T (p.Ala664Ser) c.2071G>T (p.Ala691Ser) c.1567G>T (p.Ala523Ser) c.1405G>T (p.Ala469Ser) n.2080G>T c.1498G>T (p.Ala500Ser) n.2033G>T n.2055G>T | |
16 | g.50711983C>A | CA395870789 | NOD2 | c.1991C>A (p.Ala664Asp) c.2072C>A (p.Ala691Asp) c.1568C>A (p.Ala523Asp) c.1406C>A (p.Ala469Asp) n.2081C>A c.1499C>A (p.Ala500Asp) n.2034C>A n.2056C>A | dbSNP gnomAD v2 |
16 | g.50711983C= | CA2221862438 | NOD2 | c.1991C= (p.Ala664=) c.2072C= (p.Ala691=) c.1568C= (p.Ala523=) c.1406C= (p.Ala469=) n.2081C= c.1499C= (p.Ala500=) n.2034C= n.2056C= | |
16 | g.50711983C>G | CA395870790 | NOD2 | c.1991C>G (p.Ala664Gly) c.2072C>G (p.Ala691Gly) c.1568C>G (p.Ala523Gly) c.1406C>G (p.Ala469Gly) n.2081C>G c.1499C>G (p.Ala500Gly) n.2034C>G n.2056C>G | |
16 | g.50711983C>T | CA395870792 | NOD2 | c.1991C>T (p.Ala664Val) c.2072C>T (p.Ala691Val) c.1568C>T (p.Ala523Val) c.1406C>T (p.Ala469Val) n.2081C>T c.1499C>T (p.Ala500Val) n.2034C>T n.2056C>T | |
16 | g.50711984T>A | CA495779317 | NOD2 | c.1992T>A (p.Ala664=) c.2073T>A (p.Ala691=) c.1569T>A (p.Ala523=) c.1407T>A (p.Ala469=) n.2082T>A c.1500T>A (p.Ala500=) n.2035T>A n.2057T>A | |
16 | g.50711984T>C | CA495779319 | NOD2 | c.1992T>C (p.Ala664=) c.2073T>C (p.Ala691=) c.1569T>C (p.Ala523=) c.1407T>C (p.Ala469=) n.2082T>C c.1500T>C (p.Ala500=) n.2035T>C n.2057T>C | |
16 | g.50711984T>G | CA495779318 | NOD2 | c.1992T>G (p.Ala664=) c.2073T>G (p.Ala691=) c.1569T>G (p.Ala523=) c.1407T>G (p.Ala469=) n.2082T>G c.1500T>G (p.Ala500=) n.2035T>G n.2057T>G | |
16 | g.50711985G>A | CA8051688 | NOD2 | c.1993G>A (p.Glu665Lys) c.2074G>A (p.Glu692Lys) c.1570G>A (p.Glu524Lys) c.1408G>A (p.Glu470Lys) n.2083G>A c.1501G>A (p.Glu501Lys) n.2036G>A n.2058G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.50711985G>C | CA395870795 | NOD2 | c.1993G>C (p.Glu665Gln) c.2074G>C (p.Glu692Gln) c.1570G>C (p.Glu524Gln) c.1408G>C (p.Glu470Gln) n.2083G>C c.1501G>C (p.Glu501Gln) n.2036G>C n.2058G>C | |
16 | g.50711985G= | CA2221862443 | NOD2 | c.1993G= (p.Glu665=) c.2074G= (p.Glu692=) c.1570G= (p.Glu524=) c.1408G= (p.Glu470=) n.2083G= c.1501G= (p.Glu501=) n.2036G= n.2058G= | |
16 | g.50711985G>T | CA395870797 | NOD2 | c.1993G>T (p.Glu665Ter) c.2074G>T (p.Glu692Ter) c.1570G>T (p.Glu524Ter) c.1408G>T (p.Glu470Ter) n.2083G>T c.1501G>T (p.Glu501Ter) n.2036G>T n.2058G>T | |
16 | g.50711986A= | CA2221862447 | NOD2 | c.1994A= (p.Glu665=) c.2075A= (p.Glu692=) c.1571A= (p.Glu524=) c.1409A= (p.Glu470=) n.2084A= c.1502A= (p.Glu501=) n.2037A= n.2059A= | |
16 | g.50711986A>C | CA395870800 | NOD2 | c.1994A>C (p.Glu665Ala) c.2075A>C (p.Glu692Ala) c.1571A>C (p.Glu524Ala) c.1409A>C (p.Glu470Ala) n.2084A>C c.1502A>C (p.Glu501Ala) n.2037A>C n.2059A>C | |
16 | g.50711986A>G | CA8051689 | NOD2 | c.1994A>G (p.Glu665Gly) c.2075A>G (p.Glu692Gly) c.1571A>G (p.Glu524Gly) c.1409A>G (p.Glu470Gly) n.2084A>G c.1502A>G (p.Glu501Gly) n.2037A>G n.2059A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50711986A>T | CA395870799 | NOD2 | c.1994A>T (p.Glu665Val) c.2075A>T (p.Glu692Val) c.1571A>T (p.Glu524Val) c.1409A>T (p.Glu470Val) n.2084A>T c.1502A>T (p.Glu501Val) n.2037A>T n.2059A>T | gnomAD v4 |
16 | g.50711987G>A | CA495779321 | NOD2 | c.1995G>A (p.Glu665=) c.2076G>A (p.Glu692=) c.1572G>A (p.Glu524=) c.1410G>A (p.Glu470=) n.2085G>A c.1503G>A (p.Glu501=) n.2038G>A n.2060G>A | |
16 | g.50711987G>C | CA395870803 | NOD2 | c.1995G>C (p.Glu665Asp) c.2076G>C (p.Glu692Asp) c.1572G>C (p.Glu524Asp) c.1410G>C (p.Glu470Asp) n.2085G>C c.1503G>C (p.Glu501Asp) n.2038G>C n.2060G>C | |
16 | g.50711987G>T | CA395870805 | NOD2 | c.1995G>T (p.Glu665Asp) c.2076G>T (p.Glu692Asp) c.1572G>T (p.Glu524Asp) c.1410G>T (p.Glu470Asp) n.2085G>T c.1503G>T (p.Glu501Asp) n.2038G>T n.2060G>T | |
16 | g.50711988T>A | CA395870807 | NOD2 | c.1996T>A (p.Cys666Ser) c.2077T>A (p.Cys693Ser) c.1573T>A (p.Cys525Ser) c.1411T>A (p.Cys471Ser) n.2086T>A c.1504T>A (p.Cys502Ser) n.2039T>A n.2061T>A | |
16 | g.50711988T>C | CA395870809 | NOD2 | c.1996T>C (p.Cys666Arg) c.2077T>C (p.Cys693Arg) c.1573T>C (p.Cys525Arg) c.1411T>C (p.Cys471Arg) n.2086T>C c.1504T>C (p.Cys502Arg) n.2039T>C n.2061T>C | |
16 | g.50711988T>G | CA395870811 | NOD2 | c.1996T>G (p.Cys666Gly) c.2077T>G (p.Cys693Gly) c.1573T>G (p.Cys525Gly) c.1411T>G (p.Cys471Gly) n.2086T>G c.1504T>G (p.Cys502Gly) n.2039T>G n.2061T>G | |
16 | g.50711989G>A | CA395870813 | NOD2 | c.1997G>A (p.Cys666Tyr) c.2078G>A (p.Cys693Tyr) c.1574G>A (p.Cys525Tyr) c.1412G>A (p.Cys471Tyr) n.2087G>A c.1505G>A (p.Cys502Tyr) n.2040G>A n.2062G>A | dbSNP COSMIC |
16 | g.50711989G>C | CA395870814 | NOD2 | c.1997G>C (p.Cys666Ser) c.2078G>C (p.Cys693Ser) c.1574G>C (p.Cys525Ser) c.1412G>C (p.Cys471Ser) n.2087G>C c.1505G>C (p.Cys502Ser) n.2040G>C n.2062G>C | |
16 | g.50711989G= | CA2221862452 | NOD2 | c.1997G= (p.Cys666=) c.2078G= (p.Cys693=) c.1574G= (p.Cys525=) c.1412G= (p.Cys471=) n.2087G= c.1505G= (p.Cys502=) n.2040G= n.2062G= | |
16 | g.50711989G>T | CA395870816 | NOD2 | c.1997G>T (p.Cys666Phe) c.2078G>T (p.Cys693Phe) c.1574G>T (p.Cys525Phe) c.1412G>T (p.Cys471Phe) n.2087G>T c.1505G>T (p.Cys502Phe) n.2040G>T n.2062G>T | COSMIC |
16 | g.50711990C>A | CA395870818 | NOD2 | c.1998C>A (p.Cys666Ter) c.2079C>A (p.Cys693Ter) c.1575C>A (p.Cys525Ter) c.1413C>A (p.Cys471Ter) n.2088C>A c.1506C>A (p.Cys502Ter) n.2041C>A n.2063C>A | gnomAD v4 |
16 | g.50711990C= | CA2221862455 | NOD2 | c.1998C= (p.Cys666=) c.2079C= (p.Cys693=) c.1575C= (p.Cys525=) c.1413C= (p.Cys471=) n.2088C= c.1506C= (p.Cys502=) n.2041C= n.2063C= | |
16 | g.50711990C>G | CA395870820 | NOD2 | c.1998C>G (p.Cys666Trp) c.2079C>G (p.Cys693Trp) c.1575C>G (p.Cys525Trp) c.1413C>G (p.Cys471Trp) n.2088C>G c.1506C>G (p.Cys502Trp) n.2041C>G n.2063C>G | |
16 | g.50711990C>T | CA495779327 | NOD2 | c.1998C>T (p.Cys666=) c.2079C>T (p.Cys693=) c.1575C>T (p.Cys525=) c.1413C>T (p.Cys471=) n.2088C>T c.1506C>T (p.Cys502=) n.2041C>T n.2063C>T | dbSNP gnomAD v4 |
16 | g.50711991C>A | CA395870822 | NOD2 | c.1999C>A (p.Gln667Lys) c.2080C>A (p.Gln694Lys) c.1576C>A (p.Gln526Lys) c.1414C>A (p.Gln472Lys) n.2089C>A c.1507C>A (p.Gln503Lys) n.2042C>A n.2064C>A | |
16 | g.50711991C>G | CA395870824 | NOD2 | c.1999C>G (p.Gln667Glu) c.2080C>G (p.Gln694Glu) c.1576C>G (p.Gln526Glu) c.1414C>G (p.Gln472Glu) n.2089C>G c.1507C>G (p.Gln503Glu) n.2042C>G n.2064C>G | gnomAD v4 |
16 | g.50711991C>T | CA395870826 | NOD2 | c.1999C>T (p.Gln667Ter) c.2080C>T (p.Gln694Ter) c.1576C>T (p.Gln526Ter) c.1414C>T (p.Gln472Ter) n.2089C>T c.1507C>T (p.Gln503Ter) n.2042C>T n.2064C>T | |
16 | g.50711992A>C | CA395870830 | NOD2 | c.2000A>C (p.Gln667Pro) c.2081A>C (p.Gln694Pro) c.1577A>C (p.Gln526Pro) c.1415A>C (p.Gln472Pro) n.2090A>C c.1508A>C (p.Gln503Pro) n.2043A>C n.2065A>C | |
16 | g.50711992A>G | CA395870832 | NOD2 | c.2000A>G (p.Gln667Arg) c.2081A>G (p.Gln694Arg) c.1577A>G (p.Gln526Arg) c.1415A>G (p.Gln472Arg) n.2090A>G c.1508A>G (p.Gln503Arg) n.2043A>G n.2065A>G | |
16 | g.50711992A>T | CA395870829 | NOD2 | c.2000A>T (p.Gln667Leu) c.2081A>T (p.Gln694Leu) c.1577A>T (p.Gln526Leu) c.1415A>T (p.Gln472Leu) n.2090A>T c.1508A>T (p.Gln503Leu) n.2043A>T n.2065A>T | |
16 | g.50711993G>A | CA495779329 | NOD2 | c.2001G>A (p.Gln667=) c.2082G>A (p.Gln694=) c.1578G>A (p.Gln526=) c.1416G>A (p.Gln472=) n.2091G>A c.1509G>A (p.Gln503=) n.2044G>A n.2066G>A | |
16 | g.50711993G>C | CA395870834 | NOD2 | c.2001G>C (p.Gln667His) c.2082G>C (p.Gln694His) c.1578G>C (p.Gln526His) c.1416G>C (p.Gln472His) n.2091G>C c.1509G>C (p.Gln503His) n.2044G>C n.2066G>C | |
16 | g.50711993G>T | CA395870836 | NOD2 | c.2001G>T (p.Gln667His) c.2082G>T (p.Gln694His) c.1578G>T (p.Gln526His) c.1416G>T (p.Gln472His) n.2091G>T c.1509G>T (p.Gln503His) n.2044G>T n.2066G>T | |
16 | g.50711994A>C | CA395870837 | NOD2 | c.2002A>C (p.Thr668Pro) c.2083A>C (p.Thr695Pro) c.1579A>C (p.Thr527Pro) c.1417A>C (p.Thr473Pro) n.2092A>C c.1510A>C (p.Thr504Pro) n.2045A>C n.2067A>C | |
16 | g.50711994A>G | CA395870839 | NOD2 | c.2002A>G (p.Thr668Ala) c.2083A>G (p.Thr695Ala) c.1579A>G (p.Thr527Ala) c.1417A>G (p.Thr473Ala) n.2092A>G c.1510A>G (p.Thr504Ala) n.2045A>G n.2067A>G | |
16 | g.50711994A>T | CA395870841 | NOD2 | c.2002A>T (p.Thr668Ser) c.2083A>T (p.Thr695Ser) c.1579A>T (p.Thr527Ser) c.1417A>T (p.Thr473Ser) n.2092A>T c.1510A>T (p.Thr504Ser) n.2045A>T n.2067A>T | |
16 | g.50711995C>A | CA395870843 | NOD2 | c.2003C>A (p.Thr668Lys) c.2084C>A (p.Thr695Lys) c.1580C>A (p.Thr527Lys) c.1418C>A (p.Thr473Lys) n.2093C>A c.1511C>A (p.Thr504Lys) n.2046C>A n.2068C>A | |
16 | g.50711995C>G | CA395870844 | NOD2 | c.2003C>G (p.Thr668Arg) c.2084C>G (p.Thr695Arg) c.1580C>G (p.Thr527Arg) c.1418C>G (p.Thr473Arg) n.2093C>G c.1511C>G (p.Thr504Arg) n.2046C>G n.2068C>G | |
16 | g.50711995C>T | CA395870846 | NOD2 | c.2003C>T (p.Thr668Ile) c.2084C>T (p.Thr695Ile) c.1580C>T (p.Thr527Ile) c.1418C>T (p.Thr473Ile) n.2093C>T c.1511C>T (p.Thr504Ile) n.2046C>T n.2068C>T | |
16 | g.50711996A= | CA2221862460 | NOD2 | c.2004A= (p.Thr668=) c.2085A= (p.Thr695=) c.1581A= (p.Thr527=) c.1419A= (p.Thr473=) n.2094A= c.1512A= (p.Thr504=) n.2047A= n.2069A= | |
16 | g.50711996A>C | CA8051690 | NOD2 | c.2004A>C (p.Thr668=) c.2085A>C (p.Thr695=) c.1581A>C (p.Thr527=) c.1419A>C (p.Thr473=) n.2094A>C c.1512A>C (p.Thr504=) n.2047A>C n.2069A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50711996A>G | CA495779331 | NOD2 | c.2004A>G (p.Thr668=) c.2085A>G (p.Thr695=) c.1581A>G (p.Thr527=) c.1419A>G (p.Thr473=) n.2094A>G c.1512A>G (p.Thr504=) n.2047A>G n.2069A>G | |
16 | g.50711996A>T | CA495779333 | NOD2 | c.2004A>T (p.Thr668=) c.2085A>T (p.Thr695=) c.1581A>T (p.Thr527=) c.1419A>T (p.Thr473=) n.2094A>T c.1512A>T (p.Thr504=) n.2047A>T n.2069A>T | |
16 | g.50711997T>A | CA395870849 | NOD2 | c.2005T>A (p.Ser669Thr) c.2086T>A (p.Ser696Thr) c.1582T>A (p.Ser528Thr) c.1420T>A (p.Ser474Thr) n.2095T>A c.1513T>A (p.Ser505Thr) n.2048T>A n.2070T>A | gnomAD v4 |
16 | g.50711997T>C | CA395870851 | NOD2 | c.2005T>C (p.Ser669Pro) c.2086T>C (p.Ser696Pro) c.1582T>C (p.Ser528Pro) c.1420T>C (p.Ser474Pro) n.2095T>C c.1513T>C (p.Ser505Pro) n.2048T>C n.2070T>C | |
16 | g.50711997T>G | CA395870852 | NOD2 | c.2005T>G (p.Ser669Ala) c.2086T>G (p.Ser696Ala) c.1582T>G (p.Ser528Ala) c.1420T>G (p.Ser474Ala) n.2095T>G c.1513T>G (p.Ser505Ala) n.2048T>G n.2070T>G | |
16 | g.50711998C>A | CA395870858 | NOD2 | c.2006C>A (p.Ser669Tyr) c.2087C>A (p.Ser696Tyr) c.1583C>A (p.Ser528Tyr) c.1421C>A (p.Ser474Tyr) n.2096C>A c.1514C>A (p.Ser505Tyr) n.2049C>A n.2071C>A | |
16 | g.50711998C>G | CA395870855 | NOD2 | c.2006C>G (p.Ser669Cys) c.2087C>G (p.Ser696Cys) c.1583C>G (p.Ser528Cys) c.1421C>G (p.Ser474Cys) n.2096C>G c.1514C>G (p.Ser505Cys) n.2049C>G n.2071C>G | |
16 | g.50711998C>T | CA395870857 | NOD2 | c.2006C>T (p.Ser669Phe) c.2087C>T (p.Ser696Phe) c.1583C>T (p.Ser528Phe) c.1421C>T (p.Ser474Phe) n.2096C>T c.1514C>T (p.Ser505Phe) n.2049C>T n.2071C>T | COSMIC |
16 | g.50711999T>A | CA495779337 | NOD2 | c.2007T>A (p.Ser669=) c.2088T>A (p.Ser696=) c.1584T>A (p.Ser528=) c.1422T>A (p.Ser474=) n.2097T>A c.1515T>A (p.Ser505=) n.2050T>A n.2072T>A | |
16 | g.50711999T>C | CA495779339 | NOD2 | c.2007T>C (p.Ser669=) c.2088T>C (p.Ser696=) c.1584T>C (p.Ser528=) c.1422T>C (p.Ser474=) n.2097T>C c.1515T>C (p.Ser505=) n.2050T>C n.2072T>C | |
16 | g.50711999T>G | CA495779340 | NOD2 | c.2007T>G (p.Ser669=) c.2088T>G (p.Ser696=) c.1584T>G (p.Ser528=) c.1422T>G (p.Ser474=) n.2097T>G c.1515T>G (p.Ser505=) n.2050T>G n.2072T>G | |
16 | g.50711999_50712000del | CA2841590996 | NOD2 | c.2007_2008del (p.Lys671GlyfsTer?) c.2088_2089del (p.Lys698GlyfsTer?) c.1584_1585del (p.Lys530GlyfsTer?) c.1422_1423del (p.Lys476GlyfsTer?) n.2097_2098del c.1515_1516del (p.Lys507GlyfsTer?) n.2050_2051del n.2072_2073del | |
16 | g.50712000G>A | CA395870860 | NOD2 | c.2008G>A (p.Glu670Lys) c.2089G>A (p.Glu697Lys) c.1585G>A (p.Glu529Lys) c.1423G>A (p.Glu475Lys) n.2098G>A c.1516G>A (p.Glu506Lys) n.2051G>A n.2073G>A | |
16 | g.50712000G>C | CA395870862 | NOD2 | c.2008G>C (p.Glu670Gln) c.2089G>C (p.Glu697Gln) c.1585G>C (p.Glu529Gln) c.1423G>C (p.Glu475Gln) n.2098G>C c.1516G>C (p.Glu506Gln) n.2051G>C n.2073G>C | |
16 | g.50712000G>T | CA395870864 | NOD2 | c.2008G>T (p.Glu670Ter) c.2089G>T (p.Glu697Ter) c.1585G>T (p.Glu529Ter) c.1423G>T (p.Glu475Ter) n.2098G>T c.1516G>T (p.Glu506Ter) n.2051G>T n.2073G>T | |
16 | g.50712001A>C | CA395870866 | NOD2 | c.2009A>C (p.Glu670Ala) c.2090A>C (p.Glu697Ala) c.1586A>C (p.Glu529Ala) c.1424A>C (p.Glu475Ala) n.2099A>C c.1517A>C (p.Glu506Ala) n.2052A>C n.2074A>C | |
16 | g.50712001A>G | CA395870868 | NOD2 | c.2009A>G (p.Glu670Gly) c.2090A>G (p.Glu697Gly) c.1586A>G (p.Glu529Gly) c.1424A>G (p.Glu475Gly) n.2099A>G c.1517A>G (p.Glu506Gly) n.2052A>G n.2074A>G | |
16 | g.50712001A>T | CA395870870 | NOD2 | c.2009A>T (p.Glu670Val) c.2090A>T (p.Glu697Val) c.1586A>T (p.Glu529Val) c.1424A>T (p.Glu475Val) n.2099A>T c.1517A>T (p.Glu506Val) n.2052A>T n.2074A>T | COSMIC |
16 | g.50712002G>A | CA495779344 | NOD2 | c.2010G>A (p.Glu670=) c.2091G>A (p.Glu697=) c.1587G>A (p.Glu529=) c.1425G>A (p.Glu475=) n.2100G>A c.1518G>A (p.Glu506=) n.2053G>A n.2075G>A | |
16 | g.50712002G>C | CA395870872 | NOD2 | c.2010G>C (p.Glu670Asp) c.2091G>C (p.Glu697Asp) c.1587G>C (p.Glu529Asp) c.1425G>C (p.Glu475Asp) n.2100G>C c.1518G>C (p.Glu506Asp) n.2053G>C n.2075G>C | |
16 | g.50712002G>T | CA395870873 | NOD2 | c.2010G>T (p.Glu670Asp) c.2091G>T (p.Glu697Asp) c.1587G>T (p.Glu529Asp) c.1425G>T (p.Glu475Asp) n.2100G>T c.1518G>T (p.Glu506Asp) n.2053G>T n.2075G>T | |
16 | g.50712003A>C | CA395870875 | NOD2 | c.2011A>C (p.Lys671Gln) c.2092A>C (p.Lys698Gln) c.1588A>C (p.Lys530Gln) c.1426A>C (p.Lys476Gln) n.2101A>C c.1519A>C (p.Lys507Gln) n.2054A>C n.2076A>C | |
16 | g.50712003A>G | CA395870877 | NOD2 | c.2011A>G (p.Lys671Glu) c.2092A>G (p.Lys698Glu) c.1588A>G (p.Lys530Glu) c.1426A>G (p.Lys476Glu) n.2101A>G c.1519A>G (p.Lys507Glu) n.2054A>G n.2076A>G | |
16 | g.50712003A>T | CA395870879 | NOD2 | c.2011A>T (p.Lys671Ter) c.2092A>T (p.Lys698Ter) c.1588A>T (p.Lys530Ter) c.1426A>T (p.Lys476Ter) n.2101A>T c.1519A>T (p.Lys507Ter) n.2054A>T n.2076A>T | |
16 | g.50712004del | CA2841590997 | NOD2 | c.2012del (p.Lys671ArgfsTer?) c.2093del (p.Lys698ArgfsTer?) c.1589del (p.Lys530ArgfsTer?) c.1427del (p.Lys476ArgfsTer?) n.2102del c.1520del (p.Lys507ArgfsTer?) n.2055del n.2077del | |
16 | g.50712004A>C | CA395870885 | NOD2 | c.2012A>C (p.Lys671Thr) c.2093A>C (p.Lys698Thr) c.1589A>C (p.Lys530Thr) c.1427A>C (p.Lys476Thr) n.2102A>C c.1520A>C (p.Lys507Thr) n.2055A>C n.2077A>C | |
16 | g.50712004A>G | CA395870883 | NOD2 | c.2012A>G (p.Lys671Arg) c.2093A>G (p.Lys698Arg) c.1589A>G (p.Lys530Arg) c.1427A>G (p.Lys476Arg) n.2102A>G c.1520A>G (p.Lys507Arg) n.2055A>G n.2077A>G | |
16 | g.50712004A>T | CA395870881 | NOD2 | c.2012A>T (p.Lys671Met) c.2093A>T (p.Lys698Met) c.1589A>T (p.Lys530Met) c.1427A>T (p.Lys476Met) n.2102A>T c.1520A>T (p.Lys507Met) n.2055A>T n.2077A>T | |
16 | g.50712005G>A | CA495779349 | NOD2 | c.2013G>A (p.Lys671=) c.2094G>A (p.Lys698=) c.1590G>A (p.Lys530=) c.1428G>A (p.Lys476=) n.2103G>A c.1521G>A (p.Lys507=) n.2056G>A n.2078G>A | |
16 | g.50712005G>C | CA395870887 | NOD2 | c.2013G>C (p.Lys671Asn) c.2094G>C (p.Lys698Asn) c.1590G>C (p.Lys530Asn) c.1428G>C (p.Lys476Asn) n.2103G>C c.1521G>C (p.Lys507Asn) n.2056G>C n.2078G>C | |
16 | g.50712005G>T | CA395870889 | NOD2 | c.2013G>T (p.Lys671Asn) c.2094G>T (p.Lys698Asn) c.1590G>T (p.Lys530Asn) c.1428G>T (p.Lys476Asn) n.2103G>T c.1521G>T (p.Lys507Asn) n.2056G>T n.2078G>T | |
16 | g.50712006G>A | CA395870891 | NOD2 | c.2014G>A (p.Ala672Thr) c.2095G>A (p.Ala699Thr) c.1591G>A (p.Ala531Thr) c.1429G>A (p.Ala477Thr) n.2104G>A c.1522G>A (p.Ala508Thr) n.2057G>A n.2079G>A | gnomAD v4 |
16 | g.50712006G>C | CA281263822 | NOD2 | c.2014G>C (p.Ala672Pro) c.2095G>C (p.Ala699Pro) c.1591G>C (p.Ala531Pro) c.1429G>C (p.Ala477Pro) n.2104G>C c.1522G>C (p.Ala508Pro) n.2057G>C n.2079G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50712006G= | CA2221862464 | NOD2 | c.2014G= (p.Ala672=) c.2095G= (p.Ala699=) c.1591G= (p.Ala531=) c.1429G= (p.Ala477=) n.2104G= c.1522G= (p.Ala508=) n.2057G= n.2079G= | |
16 | g.50712006G>T | CA395870894 | NOD2 | c.2014G>T (p.Ala672Ser) c.2095G>T (p.Ala699Ser) c.1591G>T (p.Ala531Ser) c.1429G>T (p.Ala477Ser) n.2104G>T c.1522G>T (p.Ala508Ser) n.2057G>T n.2079G>T | gnomAD v4 |
16 | g.50712007C>A | CA395870896 | NOD2 | c.2015C>A (p.Ala672Asp) c.2096C>A (p.Ala699Asp) c.1592C>A (p.Ala531Asp) c.1430C>A (p.Ala477Asp) n.2105C>A c.1523C>A (p.Ala508Asp) n.2058C>A n.2080C>A | |
16 | g.50712007C>G | CA395870897 | NOD2 | c.2015C>G (p.Ala672Gly) c.2096C>G (p.Ala699Gly) c.1592C>G (p.Ala531Gly) c.1430C>G (p.Ala477Gly) n.2105C>G c.1523C>G (p.Ala508Gly) n.2058C>G n.2080C>G | |
16 | g.50712007C>T | CA395870900 | NOD2 | c.2015C>T (p.Ala672Val) c.2096C>T (p.Ala699Val) c.1592C>T (p.Ala531Val) c.1430C>T (p.Ala477Val) n.2105C>T c.1523C>T (p.Ala508Val) n.2058C>T n.2080C>T | COSMIC |
16 | g.50712009del | CA2841590998 | NOD2 | c.2017del (p.Leu673CysfsTer?) c.2098del (p.Leu700CysfsTer?) c.1594del (p.Leu532CysfsTer?) c.1432del (p.Leu478CysfsTer?) n.2107del c.1525del (p.Leu509CysfsTer?) n.2060del n.2082del | |
16 | g.50712008C>A | CA495779359 | NOD2 | c.2016C>A (p.Ala672=) c.2097C>A (p.Ala699=) c.1593C>A (p.Ala531=) c.1431C>A (p.Ala477=) n.2106C>A c.1524C>A (p.Ala508=) n.2059C>A n.2081C>A | |
16 | g.50712008C= | CA2221862466 | NOD2 | c.2016C= (p.Ala672=) c.2097C= (p.Ala699=) c.1593C= (p.Ala531=) c.1431C= (p.Ala477=) n.2106C= c.1524C= (p.Ala508=) n.2059C= n.2081C= | |
16 | g.50712008C>G | CA495779358 | NOD2 | c.2016C>G (p.Ala672=) c.2097C>G (p.Ala699=) c.1593C>G (p.Ala531=) c.1431C>G (p.Ala477=) n.2106C>G c.1524C>G (p.Ala508=) n.2059C>G n.2081C>G | |
16 | g.50712008C>T | CA495779356 | NOD2 | c.2016C>T (p.Ala672=) c.2097C>T (p.Ala699=) c.1593C>T (p.Ala531=) c.1431C>T (p.Ala477=) n.2106C>T c.1524C>T (p.Ala508=) n.2059C>T n.2081C>T | dbSNP |
16 | g.50712009C>A | CA395870902 | NOD2 | c.2017C>A (p.Leu673Met) c.2098C>A (p.Leu700Met) c.1594C>A (p.Leu532Met) c.1432C>A (p.Leu478Met) n.2107C>A c.1525C>A (p.Leu509Met) n.2060C>A n.2082C>A | |
16 | g.50712009C>G | CA395870904 | NOD2 | c.2017C>G (p.Leu673Val) c.2098C>G (p.Leu700Val) c.1594C>G (p.Leu532Val) c.1432C>G (p.Leu478Val) n.2107C>G c.1525C>G (p.Leu509Val) n.2060C>G n.2082C>G | |
16 | g.50712009C>T | CA495779361 | NOD2 | c.2017C>T (p.Leu673=) c.2098C>T (p.Leu700=) c.1594C>T (p.Leu532=) c.1432C>T (p.Leu478=) n.2107C>T c.1525C>T (p.Leu509=) n.2060C>T n.2082C>T | |
16 | g.50712010T>A | CA395870906 | NOD2 | c.2018T>A (p.Leu673Gln) c.2099T>A (p.Leu700Gln) c.1595T>A (p.Leu532Gln) c.1433T>A (p.Leu478Gln) n.2108T>A c.1526T>A (p.Leu509Gln) n.2061T>A n.2083T>A | |
16 | g.50712010T>C | CA395870908 | NOD2 | c.2018T>C (p.Leu673Pro) c.2099T>C (p.Leu700Pro) c.1595T>C (p.Leu532Pro) c.1433T>C (p.Leu478Pro) n.2108T>C c.1526T>C (p.Leu509Pro) n.2061T>C n.2083T>C | |
16 | g.50712010T>G | CA395870910 | NOD2 | c.2018T>G (p.Leu673Arg) c.2099T>G (p.Leu700Arg) c.1595T>G (p.Leu532Arg) c.1433T>G (p.Leu478Arg) n.2108T>G c.1526T>G (p.Leu509Arg) n.2061T>G n.2083T>G | gnomAD v4 |
16 | g.50712011G>A | CA495779365 | NOD2 | c.2019G>A (p.Leu673=) c.2100G>A (p.Leu700=) c.1596G>A (p.Leu532=) c.1434G>A (p.Leu478=) n.2109G>A c.1527G>A (p.Leu509=) n.2062G>A n.2084G>A | |
16 | g.50712011G>C | CA495779366 | NOD2 | c.2019G>C (p.Leu673=) c.2100G>C (p.Leu700=) c.1596G>C (p.Leu532=) c.1434G>C (p.Leu478=) n.2109G>C c.1527G>C (p.Leu509=) n.2062G>C n.2084G>C | |
16 | g.50712011G>T | CA495779367 | NOD2 | c.2019G>T (p.Leu673=) c.2100G>T (p.Leu700=) c.1596G>T (p.Leu532=) c.1434G>T (p.Leu478=) n.2109G>T c.1527G>T (p.Leu509=) n.2062G>T n.2084G>T | ClinVar |
16 | g.50712012C>A | CA395870915 | NOD2 | c.2020C>A (p.Leu674Ile) c.2101C>A (p.Leu701Ile) c.1597C>A (p.Leu533Ile) c.1435C>A (p.Leu479Ile) n.2110C>A c.1528C>A (p.Leu510Ile) n.2063C>A n.2085C>A | |
16 | g.50712012C= | CA2221862468 | NOD2 | c.2020C= (p.Leu674=) c.2101C= (p.Leu701=) c.1597C= (p.Leu533=) c.1435C= (p.Leu479=) n.2110C= c.1528C= (p.Leu510=) n.2063C= n.2085C= | |
16 | g.50712012C>G | CA395870913 | NOD2 | c.2020C>G (p.Leu674Val) c.2101C>G (p.Leu701Val) c.1597C>G (p.Leu533Val) c.1435C>G (p.Leu479Val) n.2110C>G c.1528C>G (p.Leu510Val) n.2063C>G n.2085C>G | |
16 | g.50712012C>T | CA8051691 | NOD2 | c.2020C>T (p.Leu674Phe) c.2101C>T (p.Leu701Phe) c.1597C>T (p.Leu533Phe) c.1435C>T (p.Leu479Phe) n.2110C>T c.1528C>T (p.Leu510Phe) n.2063C>T n.2085C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50712013T>A | CA395870917 | NOD2 | c.2021T>A (p.Leu674His) c.2102T>A (p.Leu701His) c.1598T>A (p.Leu533His) c.1436T>A (p.Leu479His) n.2111T>A c.1529T>A (p.Leu510His) n.2064T>A n.2086T>A | |
16 | g.50712013T>C | CA395870919 | NOD2 | c.2021T>C (p.Leu674Pro) c.2102T>C (p.Leu701Pro) c.1598T>C (p.Leu533Pro) c.1436T>C (p.Leu479Pro) n.2111T>C c.1529T>C (p.Leu510Pro) n.2064T>C n.2086T>C | |
16 | g.50712013T>G | CA395870921 | NOD2 | c.2021T>G (p.Leu674Arg) c.2102T>G (p.Leu701Arg) c.1598T>G (p.Leu533Arg) c.1436T>G (p.Leu479Arg) n.2111T>G c.1529T>G (p.Leu510Arg) n.2064T>G n.2086T>G | |
16 | g.50712014C>A | CA495779373 | NOD2 | c.2022C>A (p.Leu674=) c.2103C>A (p.Leu701=) c.1599C>A (p.Leu533=) c.1437C>A (p.Leu479=) n.2112C>A c.1530C>A (p.Leu510=) n.2065C>A n.2087C>A | |
16 | g.50712014C= | CA2221862471 | NOD2 | c.2022C= (p.Leu674=) c.2103C= (p.Leu701=) c.1599C= (p.Leu533=) c.1437C= (p.Leu479=) n.2112C= c.1530C= (p.Leu510=) n.2065C= n.2087C= | |
16 | g.50712014C>G | CA495779374 | NOD2 | c.2022C>G (p.Leu674=) c.2103C>G (p.Leu701=) c.1599C>G (p.Leu533=) c.1437C>G (p.Leu479=) n.2112C>G c.1530C>G (p.Leu510=) n.2065C>G n.2087C>G | dbSNP |
16 | g.50712014C>T | CA495779375 | NOD2 | c.2022C>T (p.Leu674=) c.2103C>T (p.Leu701=) c.1599C>T (p.Leu533=) c.1437C>T (p.Leu479=) n.2112C>T c.1530C>T (p.Leu510=) n.2065C>T n.2087C>T | ClinVar dbSNP COSMIC |
16 | g.50712015C>A | CA495779376 | NOD2 | c.2023C>A (p.Arg675=) c.2104C>A (p.Arg702=) c.1600C>A (p.Arg534=) c.1438C>A (p.Arg480=) n.2113C>A c.1531C>A (p.Arg511=) n.2066C>A n.2088C>A | |
16 | g.50712015C= | CA2221862477 | NOD2 | c.2023C= (p.Arg675=) c.2104C= (p.Arg702=) c.1600C= (p.Arg534=) c.1438C= (p.Arg480=) n.2113C= c.1531C= (p.Arg511=) n.2066C= n.2088C= | |
16 | g.50712015C>G | CA395870923 | NOD2 | c.2023C>G (p.Arg675Gly) c.2104C>G (p.Arg702Gly) c.1600C>G (p.Arg534Gly) c.1438C>G (p.Arg480Gly) n.2113C>G c.1531C>G (p.Arg511Gly) n.2066C>G n.2088C>G | |
16 | g.50712015C>T | CA213414 | NOD2 | c.2023C>T (p.Arg675Trp) c.2104C>T (p.Arg702Trp) c.1600C>T (p.Arg534Trp) c.1438C>T (p.Arg480Trp) n.2113C>T c.1531C>T (p.Arg511Trp) n.2066C>T n.2088C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712016G>A | CA8051692 | NOD2 | c.2024G>A (p.Arg675Gln) c.2105G>A (p.Arg702Gln) c.1601G>A (p.Arg534Gln) c.1439G>A (p.Arg480Gln) n.2114G>A c.1532G>A (p.Arg511Gln) n.2067G>A n.2089G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712016G>C | CA395870927 | NOD2 | c.2024G>C (p.Arg675Pro) c.2105G>C (p.Arg702Pro) c.1601G>C (p.Arg534Pro) c.1439G>C (p.Arg480Pro) n.2114G>C c.1532G>C (p.Arg511Pro) n.2067G>C n.2089G>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50712016G= | CA2221862482 | NOD2 | c.2024G= (p.Arg675=) c.2105G= (p.Arg702=) c.1601G= (p.Arg534=) c.1439G= (p.Arg480=) n.2114G= c.1532G= (p.Arg511=) n.2067G= n.2089G= | |
16 | g.50712016G>T | CA395870929 | NOD2 | c.2024G>T (p.Arg675Leu) c.2105G>T (p.Arg702Leu) c.1601G>T (p.Arg534Leu) c.1439G>T (p.Arg480Leu) n.2114G>T c.1532G>T (p.Arg511Leu) n.2067G>T n.2089G>T | |
16 | g.50712017G>A | CA495779380 | NOD2 | c.2025G>A (p.Arg675=) c.2106G>A (p.Arg702=) c.1602G>A (p.Arg534=) c.1440G>A (p.Arg480=) n.2115G>A c.1533G>A (p.Arg511=) n.2068G>A n.2090G>A | |
16 | g.50712017G>C | CA495779381 | NOD2 | c.2025G>C (p.Arg675=) c.2106G>C (p.Arg702=) c.1602G>C (p.Arg534=) c.1440G>C (p.Arg480=) n.2115G>C c.1533G>C (p.Arg511=) n.2068G>C n.2090G>C | |
16 | g.50712017G>T | CA495779382 | NOD2 | c.2025G>T (p.Arg675=) c.2106G>T (p.Arg702=) c.1602G>T (p.Arg534=) c.1440G>T (p.Arg480=) n.2115G>T c.1533G>T (p.Arg511=) n.2068G>T n.2090G>T | gnomAD v4 |
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 |
16 | g.50712031C>T | CA395870984 | NOD2 | c.2039C>T (p.Ala680Val) c.2120C>T (p.Ala707Val) c.1616C>T (p.Ala539Val) c.1454C>T (p.Ala485Val) n.2129C>T c.1547C>T (p.Ala516Val) n.2082C>T n.2104C>T | dbSNP |
16 | g.50712032C>A | CA495779415 | NOD2 | c.2040C>A (p.Ala680=) c.2121C>A (p.Ala707=) c.1617C>A (p.Ala539=) c.1455C>A (p.Ala485=) n.2130C>A c.1548C>A (p.Ala516=) n.2083C>A n.2105C>A | |
16 | g.50712032C= | CA2221862530 | NOD2 | c.2040C= (p.Ala680=) c.2121C= (p.Ala707=) c.1617C= (p.Ala539=) c.1455C= (p.Ala485=) n.2130C= c.1548C= (p.Ala516=) n.2083C= n.2105C= | |
16 | g.50712032C>G | CA495779416 | NOD2 | c.2040C>G (p.Ala680=) c.2121C>G (p.Ala707=) c.1617C>G (p.Ala539=) c.1455C>G (p.Ala485=) n.2130C>G c.1548C>G (p.Ala516=) n.2083C>G n.2105C>G | |
16 | g.50712032C>T | CA8051702 | NOD2 | c.2040C>T (p.Ala680=) c.2121C>T (p.Ala707=) c.1617C>T (p.Ala539=) c.1455C>T (p.Ala485=) n.2130C>T c.1548C>T (p.Ala516=) n.2083C>T n.2105C>T | dbSNP ExAC gnomAD v2 |
16 | g.50712033C>A | CA395870989 | NOD2 | c.2041C>A (p.Arg681Ser) c.2122C>A (p.Arg708Ser) c.1618C>A (p.Arg540Ser) c.1456C>A (p.Arg486Ser) n.2131C>A c.1549C>A (p.Arg517Ser) n.2084C>A n.2106C>A | |
16 | g.50712033C= | CA2221862535 | NOD2 | c.2041C= (p.Arg681=) c.2122C= (p.Arg708=) c.1618C= (p.Arg540=) c.1456C= (p.Arg486=) n.2131C= c.1549C= (p.Arg517=) n.2084C= n.2106C= | |
16 | g.50712033C>G | CA395870990 | NOD2 | c.2041C>G (p.Arg681Gly) c.2122C>G (p.Arg708Gly) c.1618C>G (p.Arg540Gly) c.1456C>G (p.Arg486Gly) n.2131C>G c.1549C>G (p.Arg517Gly) n.2084C>G n.2106C>G | |
16 | g.50712033C>T | CA8051703 | NOD2 | c.2041C>T (p.Arg681Cys) c.2122C>T (p.Arg708Cys) c.1618C>T (p.Arg540Cys) c.1456C>T (p.Arg486Cys) n.2131C>T c.1549C>T (p.Arg517Cys) n.2084C>T n.2106C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50712034G>A | CA8051704 | NOD2 | c.2042G>A (p.Arg681His) c.2123G>A (p.Arg708His) c.1619G>A (p.Arg540His) c.1457G>A (p.Arg486His) n.2132G>A c.1550G>A (p.Arg517His) n.2085G>A n.2107G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712034G>C | CA395870993 | NOD2 | c.2042G>C (p.Arg681Pro) c.2123G>C (p.Arg708Pro) c.1619G>C (p.Arg540Pro) c.1457G>C (p.Arg486Pro) n.2132G>C c.1550G>C (p.Arg517Pro) n.2085G>C n.2107G>C | ClinVar |
16 | g.50712034G= | CA2221862539 | NOD2 | c.2042G= (p.Arg681=) c.2123G= (p.Arg708=) c.1619G= (p.Arg540=) c.1457G= (p.Arg486=) n.2132G= c.1550G= (p.Arg517=) n.2085G= n.2107G= | |
16 | g.50712034G>T | CA395870995 | NOD2 | c.2042G>T (p.Arg681Leu) c.2123G>T (p.Arg708Leu) c.1619G>T (p.Arg540Leu) c.1457G>T (p.Arg486Leu) n.2132G>T c.1550G>T (p.Arg517Leu) n.2085G>T n.2107G>T | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.50712035C>A | CA495779419 | NOD2 | c.2043C>A (p.Arg681=) c.2124C>A (p.Arg708=) c.1620C>A (p.Arg540=) c.1458C>A (p.Arg486=) n.2133C>A c.1551C>A (p.Arg517=) n.2086C>A n.2108C>A | |
16 | g.50712035C>G | CA495779421 | NOD2 | c.2043C>G (p.Arg681=) c.2124C>G (p.Arg708=) c.1620C>G (p.Arg540=) c.1458C>G (p.Arg486=) n.2133C>G c.1551C>G (p.Arg517=) n.2086C>G n.2108C>G | |
16 | g.50712035C>T | CA495779420 | NOD2 | c.2043C>T (p.Arg681=) c.2124C>T (p.Arg708=) c.1620C>T (p.Arg540=) c.1458C>T (p.Arg486=) n.2133C>T c.1551C>T (p.Arg517=) n.2086C>T n.2108C>T | |
16 | g.50712038_50712039insAGGCTGCGGGCCAGACACCAGCGGGCACAGGCCTGG | CA2839856489 | NOD2 | c.2046_2047insAGGCTGCGGGCCAGACACCAGCGGGCACAGGCCTGG (p.Trp682_Cys683insArgLeuArgAlaArgHisGlnArgAlaGlnAlaTrp) c.2127_2128insAGGCTGCGGGCCAGACACCAGCGGGCACAGGCCTGG (p.Trp709_Cys710insArgLeuArgAlaArgHisGlnArgAlaGlnAlaTrp) c.1623_1624insAGGCTGCGGGCCAGACACCAGCGGGCACAGGCCTGG (p.Trp541_Cys542insArgLeuArgAlaArgHisGlnArgAlaGlnAlaTrp) c.1461_1462insAGGCTGCGGGCCAGACACCAGCGGGCACAGGCCTGG (p.Trp487_Cys488insArgLeuArgAlaArgHisGlnArgAlaGlnAlaTrp) n.2136_2137insAGGCTGCGGGCCAGACACCAGCGGGCACAGGCCTGG c.1554_1555insAGGCTGCGGGCCAGACACCAGCGGGCACAGGCCTGG (p.Trp518_Cys519insArgLeuArgAlaArgHisGlnArgAlaGlnAlaTrp) n.2089_2090insAGGCTGCGGGCCAGACACCAGCGGGCACAGGCCTGG n.2111_2112insAGGCTGCGGGCCAGACACCAGCGGGCACAGGCCTGG | |
16 | g.50712036T>A | CA395870997 | NOD2 | c.2044T>A (p.Trp682Arg) c.2125T>A (p.Trp709Arg) c.1621T>A (p.Trp541Arg) c.1459T>A (p.Trp487Arg) n.2134T>A c.1552T>A (p.Trp518Arg) n.2087T>A n.2109T>A | |
16 | g.50712036T>C | CA395871001 | NOD2 | c.2044T>C (p.Trp682Arg) c.2125T>C (p.Trp709Arg) c.1621T>C (p.Trp541Arg) c.1459T>C (p.Trp487Arg) n.2134T>C c.1552T>C (p.Trp518Arg) n.2087T>C n.2109T>C | |
16 | g.50712036T>G | CA395870999 | NOD2 | c.2044T>G (p.Trp682Gly) c.2125T>G (p.Trp709Gly) c.1621T>G (p.Trp541Gly) c.1459T>G (p.Trp487Gly) n.2134T>G c.1552T>G (p.Trp518Gly) n.2087T>G n.2109T>G | |
16 | g.50712037G>A | CA395871003 | NOD2 | c.2045G>A (p.Trp682Ter) c.2126G>A (p.Trp709Ter) c.1622G>A (p.Trp541Ter) c.1460G>A (p.Trp487Ter) n.2135G>A c.1553G>A (p.Trp518Ter) n.2088G>A n.2110G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50712037G>C | CA395871005 | NOD2 | c.2045G>C (p.Trp682Ser) c.2126G>C (p.Trp709Ser) c.1622G>C (p.Trp541Ser) c.1460G>C (p.Trp487Ser) n.2135G>C c.1553G>C (p.Trp518Ser) n.2088G>C n.2110G>C | |
16 | g.50712037G= | CA2221862543 | NOD2 | c.2045G= (p.Trp682=) c.2126G= (p.Trp709=) c.1622G= (p.Trp541=) c.1460G= (p.Trp487=) n.2135G= c.1553G= (p.Trp518=) n.2088G= n.2110G= | |
16 | g.50712037G>T | CA395871007 | NOD2 | c.2045G>T (p.Trp682Leu) c.2126G>T (p.Trp709Leu) c.1622G>T (p.Trp541Leu) c.1460G>T (p.Trp487Leu) n.2135G>T c.1553G>T (p.Trp518Leu) n.2088G>T n.2110G>T | |
16 | g.50712038G>A | CA8051705 | NOD2 | c.2046G>A (p.Trp682Ter) c.2127G>A (p.Trp709Ter) c.1623G>A (p.Trp541Ter) c.1461G>A (p.Trp487Ter) n.2136G>A c.1554G>A (p.Trp518Ter) n.2089G>A n.2111G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50712038G>C | CA395871010 | NOD2 | c.2046G>C (p.Trp682Cys) c.2127G>C (p.Trp709Cys) c.1623G>C (p.Trp541Cys) c.1461G>C (p.Trp487Cys) n.2136G>C c.1554G>C (p.Trp518Cys) n.2089G>C n.2111G>C | |
16 | g.50712038G= | CA2221862547 | NOD2 | c.2046G= (p.Trp682=) c.2127G= (p.Trp709=) c.1623G= (p.Trp541=) c.1461G= (p.Trp487=) n.2136G= c.1554G= (p.Trp518=) n.2089G= n.2111G= | |
16 | g.50712038G>T | CA395871012 | NOD2 | c.2046G>T (p.Trp682Cys) c.2127G>T (p.Trp709Cys) c.1623G>T (p.Trp541Cys) c.1461G>T (p.Trp487Cys) n.2136G>T c.1554G>T (p.Trp518Cys) n.2089G>T n.2111G>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50712039T>A | CA395871015 | NOD2 | c.2047T>A (p.Cys683Ser) c.2128T>A (p.Cys710Ser) c.1624T>A (p.Cys542Ser) c.1462T>A (p.Cys488Ser) n.2137T>A c.1555T>A (p.Cys519Ser) n.2090T>A n.2112T>A | |
16 | g.50712039T>C | CA395871017 | NOD2 | c.2047T>C (p.Cys683Arg) c.2128T>C (p.Cys710Arg) c.1624T>C (p.Cys542Arg) c.1462T>C (p.Cys488Arg) n.2137T>C c.1555T>C (p.Cys519Arg) n.2090T>C n.2112T>C | |
16 | g.50712039T>G | CA395871018 | NOD2 | c.2047T>G (p.Cys683Gly) c.2128T>G (p.Cys710Gly) c.1624T>G (p.Cys542Gly) c.1462T>G (p.Cys488Gly) n.2137T>G c.1555T>G (p.Cys519Gly) n.2090T>G n.2112T>G | |
16 | g.50712040G>A | CA395871021 | NOD2 | c.2048G>A (p.Cys683Tyr) c.2129G>A (p.Cys710Tyr) c.1625G>A (p.Cys542Tyr) c.1463G>A (p.Cys488Tyr) n.2138G>A c.1556G>A (p.Cys519Tyr) n.2091G>A n.2113G>A | |
16 | g.50712040G>C | CA395871022 | NOD2 | c.2048G>C (p.Cys683Ser) c.2129G>C (p.Cys710Ser) c.1625G>C (p.Cys542Ser) c.1463G>C (p.Cys488Ser) n.2138G>C c.1556G>C (p.Cys519Ser) n.2091G>C n.2113G>C | |
16 | g.50712040G>T | CA395871024 | NOD2 | c.2048G>T (p.Cys683Phe) c.2129G>T (p.Cys710Phe) c.1625G>T (p.Cys542Phe) c.1463G>T (p.Cys488Phe) n.2138G>T c.1556G>T (p.Cys519Phe) n.2091G>T n.2113G>T | |
16 | g.50712041T>A | CA395871026 | NOD2 | c.2049T>A (p.Cys683Ter) c.2130T>A (p.Cys710Ter) c.1626T>A (p.Cys542Ter) c.1464T>A (p.Cys488Ter) n.2139T>A c.1557T>A (p.Cys519Ter) n.2092T>A n.2114T>A | |
16 | g.50712041T>C | CA495779431 | NOD2 | c.2049T>C (p.Cys683=) c.2130T>C (p.Cys710=) c.1626T>C (p.Cys542=) c.1464T>C (p.Cys488=) n.2139T>C c.1557T>C (p.Cys519=) n.2092T>C n.2114T>C | |
16 | g.50712041T>G | CA395871027 | NOD2 | c.2049T>G (p.Cys683Trp) c.2130T>G (p.Cys710Trp) c.1626T>G (p.Cys542Trp) c.1464T>G (p.Cys488Trp) n.2139T>G c.1557T>G (p.Cys519Trp) n.2092T>G n.2114T>G | |
16 | g.50712042C>A | CA395871030 | NOD2 | c.2050C>A (p.Leu684Met) c.2131C>A (p.Leu711Met) c.1627C>A (p.Leu543Met) c.1465C>A (p.Leu489Met) n.2140C>A c.1558C>A (p.Leu520Met) n.2093C>A n.2115C>A | |
16 | g.50712042C>G | CA395871032 | NOD2 | c.2050C>G (p.Leu684Val) c.2131C>G (p.Leu711Val) c.1627C>G (p.Leu543Val) c.1465C>G (p.Leu489Val) n.2140C>G c.1558C>G (p.Leu520Val) n.2093C>G n.2115C>G | |
16 | g.50712042C>T | CA495779433 | NOD2 | c.2050C>T (p.Leu684=) c.2131C>T (p.Leu711=) c.1627C>T (p.Leu543=) c.1465C>T (p.Leu489=) n.2140C>T c.1558C>T (p.Leu520=) n.2093C>T n.2115C>T | |
16 | g.50712043T>A | CA395871034 | NOD2 | c.2051T>A (p.Leu684Gln) c.2132T>A (p.Leu711Gln) c.1628T>A (p.Leu543Gln) c.1466T>A (p.Leu489Gln) n.2141T>A c.1559T>A (p.Leu520Gln) n.2094T>A n.2116T>A | |
16 | g.50712043T>C | CA395871036 | NOD2 | c.2051T>C (p.Leu684Pro) c.2132T>C (p.Leu711Pro) c.1628T>C (p.Leu543Pro) c.1466T>C (p.Leu489Pro) n.2141T>C c.1559T>C (p.Leu520Pro) n.2094T>C n.2116T>C | |
16 | g.50712043T>G | CA395871038 | NOD2 | c.2051T>G (p.Leu684Arg) c.2132T>G (p.Leu711Arg) c.1628T>G (p.Leu543Arg) c.1466T>G (p.Leu489Arg) n.2141T>G c.1559T>G (p.Leu520Arg) n.2094T>G n.2116T>G | |
16 | g.50712044G>A | CA495779435 | NOD2 | c.2052G>A (p.Leu684=) c.2133G>A (p.Leu711=) c.1629G>A (p.Leu543=) c.1467G>A (p.Leu489=) n.2142G>A c.1560G>A (p.Leu520=) n.2095G>A n.2117G>A | |
16 | g.50712044G>C | CA495779436 | NOD2 | c.2052G>C (p.Leu684=) c.2133G>C (p.Leu711=) c.1629G>C (p.Leu543=) c.1467G>C (p.Leu489=) n.2142G>C c.1560G>C (p.Leu520=) n.2095G>C n.2117G>C | |
16 | g.50712044G>T | CA495779437 | NOD2 | c.2052G>T (p.Leu684=) c.2133G>T (p.Leu711=) c.1629G>T (p.Leu543=) c.1467G>T (p.Leu489=) n.2142G>T c.1560G>T (p.Leu520=) n.2095G>T n.2117G>T | |
16 | g.50712045G>A | CA395871040 | NOD2 | c.2053G>A (p.Ala685Thr) c.2134G>A (p.Ala712Thr) c.1630G>A (p.Ala544Thr) c.1468G>A (p.Ala490Thr) n.2143G>A c.1561G>A (p.Ala521Thr) n.2096G>A n.2118G>A | |
16 | g.50712045G>C | CA395871041 | NOD2 | c.2053G>C (p.Ala685Pro) c.2134G>C (p.Ala712Pro) c.1630G>C (p.Ala544Pro) c.1468G>C (p.Ala490Pro) n.2143G>C c.1561G>C (p.Ala521Pro) n.2096G>C n.2118G>C | |
16 | g.50712045G>T | CA395871043 | NOD2 | c.2053G>T (p.Ala685Ser) c.2134G>T (p.Ala712Ser) c.1630G>T (p.Ala544Ser) c.1468G>T (p.Ala490Ser) n.2143G>T c.1561G>T (p.Ala521Ser) n.2096G>T n.2118G>T | |
16 | g.50712046C>A | CA395871046 | NOD2 | c.2054C>A (p.Ala685Asp) c.2135C>A (p.Ala712Asp) c.1631C>A (p.Ala544Asp) c.1469C>A (p.Ala490Asp) n.2144C>A c.1562C>A (p.Ala521Asp) n.2097C>A n.2119C>A | |
16 | g.50712046C>G | CA395871048 | NOD2 | c.2054C>G (p.Ala685Gly) c.2135C>G (p.Ala712Gly) c.1631C>G (p.Ala544Gly) c.1469C>G (p.Ala490Gly) n.2144C>G c.1562C>G (p.Ala521Gly) n.2097C>G n.2119C>G | |
16 | g.50712046C>T | CA395871049 | NOD2 | c.2054C>T (p.Ala685Val) c.2135C>T (p.Ala712Val) c.1631C>T (p.Ala544Val) c.1469C>T (p.Ala490Val) n.2144C>T c.1562C>T (p.Ala521Val) n.2097C>T n.2119C>T | gnomAD v4 |
16 | g.50712047C>A | CA495779443 | NOD2 | c.2055C>A (p.Ala685=) c.2136C>A (p.Ala712=) c.1632C>A (p.Ala544=) c.1470C>A (p.Ala490=) n.2145C>A c.1563C>A (p.Ala521=) n.2098C>A n.2120C>A | |
16 | g.50712047C>G | CA495779444 | NOD2 | c.2055C>G (p.Ala685=) c.2136C>G (p.Ala712=) c.1632C>G (p.Ala544=) c.1470C>G (p.Ala490=) n.2145C>G c.1563C>G (p.Ala521=) n.2098C>G n.2120C>G | |
16 | g.50712047C>T | CA495779445 | NOD2 | c.2055C>T (p.Ala685=) c.2136C>T (p.Ala712=) c.1632C>T (p.Ala544=) c.1470C>T (p.Ala490=) n.2145C>T c.1563C>T (p.Ala521=) n.2098C>T n.2120C>T | COSMIC |
16 | g.50712048C>A | CA395871051 | NOD2 | c.2056C>A (p.Arg686Ser) c.2137C>A (p.Arg713Ser) c.1633C>A (p.Arg545Ser) c.1471C>A (p.Arg491Ser) n.2146C>A c.1564C>A (p.Arg522Ser) n.2099C>A n.2121C>A | |
16 | g.50712048C= | CA2221862551 | NOD2 | c.2056C= (p.Arg686=) c.2137C= (p.Arg713=) c.1633C= (p.Arg545=) c.1471C= (p.Arg491=) n.2146C= c.1564C= (p.Arg522=) n.2099C= n.2121C= | |
16 | g.50712048C>G | CA395871053 | NOD2 | c.2056C>G (p.Arg686Gly) c.2137C>G (p.Arg713Gly) c.1633C>G (p.Arg545Gly) c.1471C>G (p.Arg491Gly) n.2146C>G c.1564C>G (p.Arg522Gly) n.2099C>G n.2121C>G | |
16 | g.50712048C>T | CA150241 | NOD2 | c.2056C>T (p.Arg686Cys) c.2137C>T (p.Arg713Cys) c.1633C>T (p.Arg545Cys) c.1471C>T (p.Arg491Cys) n.2146C>T c.1564C>T (p.Arg522Cys) n.2099C>T n.2121C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712049G>A | CA150244 | NOD2 | c.2057G>A (p.Arg686His) c.2138G>A (p.Arg713His) c.1634G>A (p.Arg545His) c.1472G>A (p.Arg491His) n.2147G>A c.1565G>A (p.Arg522His) n.2100G>A n.2122G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50712049G>C | CA395871056 | NOD2 | c.2057G>C (p.Arg686Pro) c.2138G>C (p.Arg713Pro) c.1634G>C (p.Arg545Pro) c.1472G>C (p.Arg491Pro) n.2147G>C c.1565G>C (p.Arg522Pro) n.2100G>C n.2122G>C | |
16 | g.50712049G= | CA2221862557 | NOD2 | c.2057G= (p.Arg686=) c.2138G= (p.Arg713=) c.1634G= (p.Arg545=) c.1472G= (p.Arg491=) n.2147G= c.1565G= (p.Arg522=) n.2100G= n.2122G= | |
16 | g.50712049G>T | CA395871058 | NOD2 | c.2057G>T (p.Arg686Leu) c.2138G>T (p.Arg713Leu) c.1634G>T (p.Arg545Leu) c.1472G>T (p.Arg491Leu) n.2147G>T c.1565G>T (p.Arg522Leu) n.2100G>T n.2122G>T | dbSNP gnomAD v4 |
16 | g.50712050C>A | CA495779451 | NOD2 | c.2058C>A (p.Arg686=) c.2139C>A (p.Arg713=) c.1635C>A (p.Arg545=) c.1473C>A (p.Arg491=) n.2148C>A c.1566C>A (p.Arg522=) n.2101C>A n.2123C>A | |
16 | g.50712050C>G | CA495779452 | NOD2 | c.2058C>G (p.Arg686=) c.2139C>G (p.Arg713=) c.1635C>G (p.Arg545=) c.1473C>G (p.Arg491=) n.2148C>G c.1566C>G (p.Arg522=) n.2101C>G n.2123C>G | |
16 | g.50712050C>T | CA495779454 | NOD2 | c.2058C>T (p.Arg686=) c.2139C>T (p.Arg713=) c.1635C>T (p.Arg545=) c.1473C>T (p.Arg491=) n.2148C>T c.1566C>T (p.Arg522=) n.2101C>T n.2123C>T | |
16 | g.50712051A>C | CA395871061 | NOD2 | c.2059A>C (p.Ser687Arg) c.2140A>C (p.Ser714Arg) c.1636A>C (p.Ser546Arg) c.1474A>C (p.Ser492Arg) n.2149A>C c.1567A>C (p.Ser523Arg) n.2102A>C n.2124A>C | |
16 | g.50712051A>G | CA395871062 | NOD2 | c.2059A>G (p.Ser687Gly) c.2140A>G (p.Ser714Gly) c.1636A>G (p.Ser546Gly) c.1474A>G (p.Ser492Gly) n.2149A>G c.1567A>G (p.Ser523Gly) n.2102A>G n.2124A>G | |
16 | g.50712051A>T | CA395871063 | NOD2 | c.2059A>T (p.Ser687Cys) c.2140A>T (p.Ser714Cys) c.1636A>T (p.Ser546Cys) c.1474A>T (p.Ser492Cys) n.2149A>T c.1567A>T (p.Ser523Cys) n.2102A>T n.2124A>T | |
16 | g.50712052G>A | CA395871068 | NOD2 | c.2060G>A (p.Ser687Asn) c.2141G>A (p.Ser714Asn) c.1637G>A (p.Ser546Asn) c.1475G>A (p.Ser492Asn) n.2150G>A c.1568G>A (p.Ser523Asn) n.2103G>A n.2125G>A | |
16 | g.50712052G>C | CA395871065 | NOD2 | c.2060G>C (p.Ser687Thr) c.2141G>C (p.Ser714Thr) c.1637G>C (p.Ser546Thr) c.1475G>C (p.Ser492Thr) n.2150G>C c.1568G>C (p.Ser523Thr) n.2103G>C n.2125G>C | |
16 | g.50712052G>T | CA395871066 | NOD2 | c.2060G>T (p.Ser687Ile) c.2141G>T (p.Ser714Ile) c.1637G>T (p.Ser546Ile) c.1475G>T (p.Ser492Ile) n.2150G>T c.1568G>T (p.Ser523Ile) n.2103G>T n.2125G>T | |
16 | g.50712053C>A | CA395871070 | NOD2 | c.2061C>A (p.Ser687Arg) c.2142C>A (p.Ser714Arg) c.1638C>A (p.Ser546Arg) c.1476C>A (p.Ser492Arg) n.2151C>A c.1569C>A (p.Ser523Arg) n.2104C>A n.2126C>A | |
16 | g.50712053C= | CA2221862561 | NOD2 | c.2061C= (p.Ser687=) c.2142C= (p.Ser714=) c.1638C= (p.Ser546=) c.1476C= (p.Ser492=) n.2151C= c.1569C= (p.Ser523=) n.2104C= n.2126C= | |
16 | g.50712053C>G | CA395871072 | NOD2 | c.2061C>G (p.Ser687Arg) c.2142C>G (p.Ser714Arg) c.1638C>G (p.Ser546Arg) c.1476C>G (p.Ser492Arg) n.2151C>G c.1569C>G (p.Ser523Arg) n.2104C>G n.2126C>G | |
16 | g.50712053C>T | CA495779459 | NOD2 | c.2061C>T (p.Ser687=) c.2142C>T (p.Ser714=) c.1638C>T (p.Ser546=) c.1476C>T (p.Ser492=) n.2151C>T c.1569C>T (p.Ser523=) n.2104C>T n.2126C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50712054C>A | CA395871074 | NOD2 | c.2062C>A (p.Leu688Ile) c.2143C>A (p.Leu715Ile) c.1639C>A (p.Leu547Ile) c.1477C>A (p.Leu493Ile) n.2152C>A c.1570C>A (p.Leu524Ile) n.2105C>A n.2127C>A | |
16 | g.50712054C>G | CA395871076 | NOD2 | c.2062C>G (p.Leu688Val) c.2143C>G (p.Leu715Val) c.1639C>G (p.Leu547Val) c.1477C>G (p.Leu493Val) n.2152C>G c.1570C>G (p.Leu524Val) n.2105C>G n.2127C>G | |
16 | g.50712054C>T | CA395871077 | NOD2 | c.2062C>T (p.Leu688Phe) c.2143C>T (p.Leu715Phe) c.1639C>T (p.Leu547Phe) c.1477C>T (p.Leu493Phe) n.2152C>T c.1570C>T (p.Leu524Phe) n.2105C>T n.2127C>T |