Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.50711912_50711920delinsGCCGCACAA | CA2221862294 | NOD2 | c.1920_1928delinsGCCGCACAA (p.Glu640=) c.2001_2009delinsGCCGCACAA (p.Glu667=) c.1497_1505delinsGCCGCACAA (p.Glu499=) c.1335_1343delinsGCCGCACAA (p.Glu445=) n.2010_2018delinsGCCGCACAA c.1428_1436delinsGCCGCACAA (p.Glu476=) n.1963_1971delinsGCCGCACAA n.1985_1993delinsGCCGCACAA | |
16 | g.50711915_50711922del | CA622654299 | NOD2 | c.1923_1930del (p.His642SerfsTer21) c.2004_2011del (p.His669SerfsTer21) c.1500_1507del (p.His501SerfsTer21) c.1338_1345del (p.His447SerfsTer21) n.2013_2020del c.1431_1438del (p.His478SerfsTer21) n.1966_1973del n.1988_1995del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50711916C>A | CA395870521 | NOD2 | c.1924C>A (p.His642Asn) c.2005C>A (p.His669Asn) c.1501C>A (p.His501Asn) c.1339C>A (p.His447Asn) n.2014C>A c.1432C>A (p.His478Asn) n.1967C>A n.1989C>A | |
16 | g.50711916C= | CA2221862325 | NOD2 | c.1924C= (p.His642=) c.2005C= (p.His669=) c.1501C= (p.His501=) c.1339C= (p.His447=) n.2014C= c.1432C= (p.His478=) n.1967C= n.1989C= | |
16 | g.50711916C>G | CA395870523 | NOD2 | c.1924C>G (p.His642Asp) c.2005C>G (p.His669Asp) c.1501C>G (p.His501Asp) c.1339C>G (p.His447Asp) n.2014C>G c.1432C>G (p.His478Asp) n.1967C>G n.1989C>G | |
16 | g.50711916C>T | CA395870525 | NOD2 | c.1924C>T (p.His642Tyr) c.2005C>T (p.His669Tyr) c.1501C>T (p.His501Tyr) c.1339C>T (p.His447Tyr) n.2014C>T c.1432C>T (p.His478Tyr) n.1967C>T n.1989C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50711917A>C | CA395870527 | NOD2 | c.1925A>C (p.His642Pro) c.2006A>C (p.His669Pro) c.1502A>C (p.His501Pro) c.1340A>C (p.His447Pro) n.2015A>C c.1433A>C (p.His478Pro) n.1968A>C n.1990A>C | |
16 | g.50711917A>G | CA395870529 | NOD2 | c.1925A>G (p.His642Arg) c.2006A>G (p.His669Arg) c.1502A>G (p.His501Arg) c.1340A>G (p.His447Arg) n.2015A>G c.1433A>G (p.His478Arg) n.1968A>G n.1990A>G | |
16 | g.50711917A>T | CA395870530 | NOD2 | c.1925A>T (p.His642Leu) c.2006A>T (p.His669Leu) c.1502A>T (p.His501Leu) c.1340A>T (p.His447Leu) n.2015A>T c.1433A>T (p.His478Leu) n.1968A>T n.1990A>T | |
16 | g.50711918C>A | CA395870532 | NOD2 | c.1926C>A (p.His642Gln) c.2007C>A (p.His669Gln) c.1503C>A (p.His501Gln) c.1341C>A (p.His447Gln) n.2016C>A c.1434C>A (p.His478Gln) n.1969C>A n.1991C>A | |
16 | g.50711918C= | CA2221862328 | NOD2 | c.1926C= (p.His642=) c.2007C= (p.His669=) c.1503C= (p.His501=) c.1341C= (p.His447=) n.2016C= c.1434C= (p.His478=) n.1969C= n.1991C= | |
16 | g.50711918C>G | CA395870534 | NOD2 | c.1926C>G (p.His642Gln) c.2007C>G (p.His669Gln) c.1503C>G (p.His501Gln) c.1341C>G (p.His447Gln) n.2016C>G c.1434C>G (p.His478Gln) n.1969C>G n.1991C>G | |
16 | g.50711918C>T | CA8051671 | NOD2 | c.1926C>T (p.His642=) c.2007C>T (p.His669=) c.1503C>T (p.His501=) c.1341C>T (p.His447=) n.2016C>T c.1434C>T (p.His478=) n.1969C>T n.1991C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50711919A>C | CA395870537 | NOD2 | c.1927A>C (p.Asn643His) c.2008A>C (p.Asn670His) c.1504A>C (p.Asn502His) c.1342A>C (p.Asn448His) n.2017A>C c.1435A>C (p.Asn479His) n.1970A>C n.1992A>C | |
16 | g.50711919A>G | CA395870539 | NOD2 | c.1927A>G (p.Asn643Asp) c.2008A>G (p.Asn670Asp) c.1504A>G (p.Asn502Asp) c.1342A>G (p.Asn448Asp) n.2017A>G c.1435A>G (p.Asn479Asp) n.1970A>G n.1992A>G | |
16 | g.50711919A>T | CA395870541 | NOD2 | c.1927A>T (p.Asn643Tyr) c.2008A>T (p.Asn670Tyr) c.1504A>T (p.Asn502Tyr) c.1342A>T (p.Asn448Tyr) n.2017A>T c.1435A>T (p.Asn479Tyr) n.1970A>T n.1992A>T | |
16 | g.50711920A>C | CA395870546 | NOD2 | c.1928A>C (p.Asn643Thr) c.2009A>C (p.Asn670Thr) c.1505A>C (p.Asn502Thr) c.1343A>C (p.Asn448Thr) n.2018A>C c.1436A>C (p.Asn479Thr) n.1971A>C n.1993A>C | |
16 | g.50711920A>G | CA395870545 | NOD2 | c.1928A>G (p.Asn643Ser) c.2009A>G (p.Asn670Ser) c.1505A>G (p.Asn502Ser) c.1343A>G (p.Asn448Ser) n.2018A>G c.1436A>G (p.Asn479Ser) n.1971A>G n.1993A>G | |
16 | g.50711920A>T | CA395870543 | NOD2 | c.1928A>T (p.Asn643Ile) c.2009A>T (p.Asn670Ile) c.1505A>T (p.Asn502Ile) c.1343A>T (p.Asn448Ile) n.2018A>T c.1436A>T (p.Asn479Ile) n.1971A>T n.1993A>T | |
16 | g.50711921C>A | CA150239 | NOD2 | c.1929C>A (p.Asn643Lys) c.2010C>A (p.Asn670Lys) c.1506C>A (p.Asn502Lys) c.1344C>A (p.Asn448Lys) n.2019C>A c.1437C>A (p.Asn479Lys) n.1972C>A n.1994C>A | ClinVar dbSNP |
16 | g.50711921C= | CA2221862333 | NOD2 | c.1929C= (p.Asn643=) c.2010C= (p.Asn670=) c.1506C= (p.Asn502=) c.1344C= (p.Asn448=) n.2019C= c.1437C= (p.Asn479=) n.1972C= n.1994C= | |
16 | g.50711921C>G | CA395870549 | NOD2 | c.1929C>G (p.Asn643Lys) c.2010C>G (p.Asn670Lys) c.1506C>G (p.Asn502Lys) c.1344C>G (p.Asn448Lys) n.2019C>G c.1437C>G (p.Asn479Lys) n.1972C>G n.1994C>G | ClinVar dbSNP |
16 | g.50711921C>T | CA8051672 | NOD2 | c.1929C>T (p.Asn643=) c.2010C>T (p.Asn670=) c.1506C>T (p.Asn502=) c.1344C>T (p.Asn448=) n.2019C>T c.1437C>T (p.Asn479=) n.1972C>T n.1994C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50711922C>A | CA395870552 | NOD2 | c.1930C>A (p.Leu644Ile) c.2011C>A (p.Leu671Ile) c.1507C>A (p.Leu503Ile) c.1345C>A (p.Leu449Ile) n.2020C>A c.1438C>A (p.Leu480Ile) n.1973C>A n.1995C>A | gnomAD v4 |
16 | g.50711922C>G | CA395870555 | NOD2 | c.1930C>G (p.Leu644Val) c.2011C>G (p.Leu671Val) c.1507C>G (p.Leu503Val) c.1345C>G (p.Leu449Val) n.2020C>G c.1438C>G (p.Leu480Val) n.1973C>G n.1995C>G | |
16 | g.50711922C>T | CA395870554 | NOD2 | c.1930C>T (p.Leu644Phe) c.2011C>T (p.Leu671Phe) c.1507C>T (p.Leu503Phe) c.1345C>T (p.Leu449Phe) n.2020C>T c.1438C>T (p.Leu480Phe) n.1973C>T n.1995C>T | gnomAD v4 |
16 | g.50711923T>A | CA395870557 | NOD2 | c.1931T>A (p.Leu644His) c.2012T>A (p.Leu671His) c.1508T>A (p.Leu503His) c.1346T>A (p.Leu449His) n.2021T>A c.1439T>A (p.Leu480His) n.1974T>A n.1996T>A | |
16 | g.50711923T>C | CA395870560 | NOD2 | c.1931T>C (p.Leu644Pro) c.2012T>C (p.Leu671Pro) c.1508T>C (p.Leu503Pro) c.1346T>C (p.Leu449Pro) n.2021T>C c.1439T>C (p.Leu480Pro) n.1974T>C n.1996T>C | |
16 | g.50711923T>G | CA8051673 | NOD2 | c.1931T>G (p.Leu644Arg) c.2012T>G (p.Leu671Arg) c.1508T>G (p.Leu503Arg) c.1346T>G (p.Leu449Arg) n.2021T>G c.1439T>G (p.Leu480Arg) n.1974T>G n.1996T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50711923T= | CA2221862341 | NOD2 | c.1931T= (p.Leu644=) c.2012T= (p.Leu671=) c.1508T= (p.Leu503=) c.1346T= (p.Leu449=) n.2021T= c.1439T= (p.Leu480=) n.1974T= n.1996T= | |
16 | g.50711924T>A | CA495779236 | NOD2 | c.1932T>A (p.Leu644=) c.2013T>A (p.Leu671=) c.1509T>A (p.Leu503=) c.1347T>A (p.Leu449=) n.2022T>A c.1440T>A (p.Leu480=) n.1975T>A n.1997T>A | |
16 | g.50711924T>C | CA495779237 | NOD2 | c.1932T>C (p.Leu644=) c.2013T>C (p.Leu671=) c.1509T>C (p.Leu503=) c.1347T>C (p.Leu449=) n.2022T>C c.1440T>C (p.Leu480=) n.1975T>C n.1997T>C | |
16 | g.50711924T>G | CA495779238 | NOD2 | c.1932T>G (p.Leu644=) c.2013T>G (p.Leu671=) c.1509T>G (p.Leu503=) c.1347T>G (p.Leu449=) n.2022T>G c.1440T>G (p.Leu480=) n.1975T>G n.1997T>G | |
16 | g.50711925C>A | CA395870562 | NOD2 | c.1933C>A (p.Gln645Lys) c.2014C>A (p.Gln672Lys) c.1510C>A (p.Gln504Lys) c.1348C>A (p.Gln450Lys) n.2023C>A c.1441C>A (p.Gln481Lys) n.1976C>A n.1998C>A | |
16 | g.50711925C>G | CA395870566 | NOD2 | c.1933C>G (p.Gln645Glu) c.2014C>G (p.Gln672Glu) c.1510C>G (p.Gln504Glu) c.1348C>G (p.Gln450Glu) n.2023C>G c.1441C>G (p.Gln481Glu) n.1976C>G n.1998C>G | |
16 | g.50711925C>T | CA395870564 | NOD2 | c.1933C>T (p.Gln645Ter) c.2014C>T (p.Gln672Ter) c.1510C>T (p.Gln504Ter) c.1348C>T (p.Gln450Ter) n.2023C>T c.1441C>T (p.Gln481Ter) n.1976C>T n.1998C>T | |
16 | g.50711926A>C | CA395870568 | NOD2 | c.1934A>C (p.Gln645Pro) c.2015A>C (p.Gln672Pro) c.1511A>C (p.Gln504Pro) c.1349A>C (p.Gln450Pro) n.2024A>C c.1442A>C (p.Gln481Pro) n.1977A>C n.1999A>C | COSMIC |
16 | g.50711926A>G | CA395870570 | NOD2 | c.1934A>G (p.Gln645Arg) c.2015A>G (p.Gln672Arg) c.1511A>G (p.Gln504Arg) c.1349A>G (p.Gln450Arg) n.2024A>G c.1442A>G (p.Gln481Arg) n.1977A>G n.1999A>G | |
16 | g.50711926A>T | CA395870572 | NOD2 | c.1934A>T (p.Gln645Leu) c.2015A>T (p.Gln672Leu) c.1511A>T (p.Gln504Leu) c.1349A>T (p.Gln450Leu) n.2024A>T c.1442A>T (p.Gln481Leu) n.1977A>T n.1999A>T | |
16 | g.50711927G>A | CA495779243 | NOD2 | c.1935G>A (p.Gln645=) c.2016G>A (p.Gln672=) c.1512G>A (p.Gln504=) c.1350G>A (p.Gln450=) n.2025G>A c.1443G>A (p.Gln481=) n.1978G>A n.2000G>A | |
16 | g.50711927G>C | CA395870573 | NOD2 | c.1935G>C (p.Gln645His) c.2016G>C (p.Gln672His) c.1512G>C (p.Gln504His) c.1350G>C (p.Gln450His) n.2025G>C c.1443G>C (p.Gln481His) n.1978G>C n.2000G>C | dbSNP gnomAD v4 |
16 | g.50711927G= | CA2221862344 | NOD2 | c.1935G= (p.Gln645=) c.2016G= (p.Gln672=) c.1512G= (p.Gln504=) c.1350G= (p.Gln450=) n.2025G= c.1443G= (p.Gln481=) n.1978G= n.2000G= | |
16 | g.50711927G>T | CA395870574 | NOD2 | c.1935G>T (p.Gln645His) c.2016G>T (p.Gln672His) c.1512G>T (p.Gln504His) c.1350G>T (p.Gln450His) n.2025G>T c.1443G>T (p.Gln481His) n.1978G>T n.2000G>T | |
16 | g.50711928A>C | CA395870576 | NOD2 | c.1936A>C (p.Ile646Leu) c.2017A>C (p.Ile673Leu) c.1513A>C (p.Ile505Leu) c.1351A>C (p.Ile451Leu) n.2026A>C c.1444A>C (p.Ile482Leu) n.1979A>C n.2001A>C | |
16 | g.50711928A>G | CA395870578 | NOD2 | c.1936A>G (p.Ile646Val) c.2017A>G (p.Ile673Val) c.1513A>G (p.Ile505Val) c.1351A>G (p.Ile451Val) n.2026A>G c.1444A>G (p.Ile482Val) n.1979A>G n.2001A>G | |
16 | g.50711928A>T | CA395870580 | NOD2 | c.1936A>T (p.Ile646Phe) c.2017A>T (p.Ile673Phe) c.1513A>T (p.Ile505Phe) c.1351A>T (p.Ile451Phe) n.2026A>T c.1444A>T (p.Ile482Phe) n.1979A>T n.2001A>T | gnomAD v4 |
16 | g.50711929T>A | CA395870581 | NOD2 | c.1937T>A (p.Ile646Asn) c.2018T>A (p.Ile673Asn) c.1514T>A (p.Ile505Asn) c.1352T>A (p.Ile451Asn) n.2027T>A c.1445T>A (p.Ile482Asn) n.1980T>A n.2002T>A | |
16 | g.50711929T>C | CA395870583 | NOD2 | c.1937T>C (p.Ile646Thr) c.2018T>C (p.Ile673Thr) c.1514T>C (p.Ile505Thr) c.1352T>C (p.Ile451Thr) n.2027T>C c.1445T>C (p.Ile482Thr) n.1980T>C n.2002T>C | |
16 | g.50711929T>G | CA395870584 | NOD2 | c.1937T>G (p.Ile646Ser) c.2018T>G (p.Ile673Ser) c.1514T>G (p.Ile505Ser) c.1352T>G (p.Ile451Ser) n.2027T>G c.1445T>G (p.Ile482Ser) n.1980T>G n.2002T>G | |
16 | g.50711930C>A | CA495779246 | NOD2 | c.1938C>A (p.Ile646=) c.2019C>A (p.Ile673=) c.1515C>A (p.Ile505=) c.1353C>A (p.Ile451=) n.2028C>A c.1446C>A (p.Ile482=) n.1981C>A n.2003C>A | COSMIC |
16 | g.50711930C= | CA2221862346 | NOD2 | c.1938C= (p.Ile646=) c.2019C= (p.Ile673=) c.1515C= (p.Ile505=) c.1353C= (p.Ile451=) n.2028C= c.1446C= (p.Ile482=) n.1981C= n.2003C= | |
16 | g.50711930C>G | CA8051674 | NOD2 | c.1938C>G (p.Ile646Met) c.2019C>G (p.Ile673Met) c.1515C>G (p.Ile505Met) c.1353C>G (p.Ile451Met) n.2028C>G c.1446C>G (p.Ile482Met) n.1981C>G n.2003C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50711930C>T | CA495779245 | NOD2 | c.1938C>T (p.Ile646=) c.2019C>T (p.Ile673=) c.1515C>T (p.Ile505=) c.1353C>T (p.Ile451=) n.2028C>T c.1446C>T (p.Ile482=) n.1981C>T n.2003C>T | |
16 | g.50711931A>C | CA395870587 | NOD2 | c.1939A>C (p.Thr647Pro) c.2020A>C (p.Thr674Pro) c.1516A>C (p.Thr506Pro) c.1354A>C (p.Thr452Pro) n.2029A>C c.1447A>C (p.Thr483Pro) n.1982A>C n.2004A>C | |
16 | g.50711931A>G | CA395870591 | NOD2 | c.1939A>G (p.Thr647Ala) c.2020A>G (p.Thr674Ala) c.1516A>G (p.Thr506Ala) c.1354A>G (p.Thr452Ala) n.2029A>G c.1447A>G (p.Thr483Ala) n.1982A>G n.2004A>G | ClinVar |
16 | g.50711931A>T | CA395870589 | NOD2 | c.1939A>T (p.Thr647Ser) c.2020A>T (p.Thr674Ser) c.1516A>T (p.Thr506Ser) c.1354A>T (p.Thr452Ser) n.2029A>T c.1447A>T (p.Thr483Ser) n.1982A>T n.2004A>T | |
16 | g.50711932C>A | CA395870593 | NOD2 | c.1940C>A (p.Thr647Lys) c.2021C>A (p.Thr674Lys) c.1517C>A (p.Thr506Lys) c.1355C>A (p.Thr452Lys) n.2030C>A c.1448C>A (p.Thr483Lys) n.1983C>A n.2005C>A | |
16 | g.50711932C= | CA2221862349 | NOD2 | c.1940C= (p.Thr647=) c.2021C= (p.Thr674=) c.1517C= (p.Thr506=) c.1355C= (p.Thr452=) n.2030C= c.1448C= (p.Thr483=) n.1983C= n.2005C= | |
16 | g.50711932C>G | CA395870595 | NOD2 | c.1940C>G (p.Thr647Arg) c.2021C>G (p.Thr674Arg) c.1517C>G (p.Thr506Arg) c.1355C>G (p.Thr452Arg) n.2030C>G c.1448C>G (p.Thr483Arg) n.1983C>G n.2005C>G | gnomAD v4 |
16 | g.50711932C>T | CA281263677 | NOD2 | c.1940C>T (p.Thr647Ile) c.2021C>T (p.Thr674Ile) c.1517C>T (p.Thr506Ile) c.1355C>T (p.Thr452Ile) n.2030C>T c.1448C>T (p.Thr483Ile) n.1983C>T n.2005C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50711933A= | CA2221862352 | NOD2 | c.1941A= (p.Thr647=) c.2022A= (p.Thr674=) c.1518A= (p.Thr506=) c.1356A= (p.Thr452=) n.2031A= c.1449A= (p.Thr483=) n.1984A= n.2006A= | |
16 | g.50711933A>C | CA495779247 | NOD2 | c.1941A>C (p.Thr647=) c.2022A>C (p.Thr674=) c.1518A>C (p.Thr506=) c.1356A>C (p.Thr452=) n.2031A>C c.1449A>C (p.Thr483=) n.1984A>C n.2006A>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50711933A>G | CA495779248 | NOD2 | c.1941A>G (p.Thr647=) c.2022A>G (p.Thr674=) c.1518A>G (p.Thr506=) c.1356A>G (p.Thr452=) n.2031A>G c.1449A>G (p.Thr483=) n.1984A>G n.2006A>G | dbSNP |
16 | g.50711933A>T | CA495779249 | NOD2 | c.1941A>T (p.Thr647=) c.2022A>T (p.Thr674=) c.1518A>T (p.Thr506=) c.1356A>T (p.Thr452=) n.2031A>T c.1449A>T (p.Thr483=) n.1984A>T n.2006A>T | |
16 | g.50711934G>A | CA395870598 | NOD2 | c.1942G>A (p.Ala648Thr) c.2023G>A (p.Ala675Thr) c.1519G>A (p.Ala507Thr) c.1357G>A (p.Ala453Thr) n.2032G>A c.1450G>A (p.Ala484Thr) n.1985G>A n.2007G>A | gnomAD v4 COSMIC |
16 | g.50711934G>C | CA395870599 | NOD2 | c.1942G>C (p.Ala648Pro) c.2023G>C (p.Ala675Pro) c.1519G>C (p.Ala507Pro) c.1357G>C (p.Ala453Pro) n.2032G>C c.1450G>C (p.Ala484Pro) n.1985G>C n.2007G>C | |
16 | g.50711934G>T | CA395870601 | NOD2 | c.1942G>T (p.Ala648Ser) c.2023G>T (p.Ala675Ser) c.1519G>T (p.Ala507Ser) c.1357G>T (p.Ala453Ser) n.2032G>T c.1450G>T (p.Ala484Ser) n.1985G>T n.2007G>T | |
16 | g.50711935C>A | CA395870603 | NOD2 | c.1943C>A (p.Ala648Glu) c.2024C>A (p.Ala675Glu) c.1520C>A (p.Ala507Glu) c.1358C>A (p.Ala453Glu) n.2033C>A c.1451C>A (p.Ala484Glu) n.1986C>A n.2008C>A | gnomAD v4 |
16 | g.50711935C= | CA2221862354 | NOD2 | c.1943C= (p.Ala648=) c.2024C= (p.Ala675=) c.1520C= (p.Ala507=) c.1358C= (p.Ala453=) n.2033C= c.1451C= (p.Ala484=) n.1986C= n.2008C= | |
16 | g.50711935C>G | CA395870605 | NOD2 | c.1943C>G (p.Ala648Gly) c.2024C>G (p.Ala675Gly) c.1520C>G (p.Ala507Gly) c.1358C>G (p.Ala453Gly) n.2033C>G c.1451C>G (p.Ala484Gly) n.1986C>G n.2008C>G | |
16 | g.50711935C>T | CA8051675 | NOD2 | c.1943C>T (p.Ala648Val) c.2024C>T (p.Ala675Val) c.1520C>T (p.Ala507Val) c.1358C>T (p.Ala453Val) n.2033C>T c.1451C>T (p.Ala484Val) n.1986C>T n.2008C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50711936A>C | CA495779251 | NOD2 | c.1944A>C (p.Ala648=) c.2025A>C (p.Ala675=) c.1521A>C (p.Ala507=) c.1359A>C (p.Ala453=) n.2034A>C c.1452A>C (p.Ala484=) n.1987A>C n.2009A>C | |
16 | g.50711936A>G | CA495779252 | NOD2 | c.1944A>G (p.Ala648=) c.2025A>G (p.Ala675=) c.1521A>G (p.Ala507=) c.1359A>G (p.Ala453=) n.2034A>G c.1452A>G (p.Ala484=) n.1987A>G n.2009A>G | |
16 | g.50711936A>T | CA495779253 | NOD2 | c.1944A>T (p.Ala648=) c.2025A>T (p.Ala675=) c.1521A>T (p.Ala507=) c.1359A>T (p.Ala453=) n.2034A>T c.1452A>T (p.Ala484=) n.1987A>T n.2009A>T | gnomAD v4 |
16 | g.50711937G>A | CA395870612 | NOD2 | c.1945G>A (p.Ala649Thr) c.2026G>A (p.Ala676Thr) c.1522G>A (p.Ala508Thr) c.1360G>A (p.Ala454Thr) n.2035G>A c.1453G>A (p.Ala485Thr) n.1988G>A n.2010G>A | |
16 | g.50711937G>C | CA395870610 | NOD2 | c.1945G>C (p.Ala649Pro) c.2026G>C (p.Ala676Pro) c.1522G>C (p.Ala508Pro) c.1360G>C (p.Ala454Pro) n.2035G>C c.1453G>C (p.Ala485Pro) n.1988G>C n.2010G>C | |
16 | g.50711937G>T | CA395870608 | NOD2 | c.1945G>T (p.Ala649Ser) c.2026G>T (p.Ala676Ser) c.1522G>T (p.Ala508Ser) c.1360G>T (p.Ala454Ser) n.2035G>T c.1453G>T (p.Ala485Ser) n.1988G>T n.2010G>T | |
16 | g.50711938C>A | CA395870614 | NOD2 | c.1946C>A (p.Ala649Asp) c.2027C>A (p.Ala676Asp) c.1523C>A (p.Ala508Asp) c.1361C>A (p.Ala454Asp) n.2036C>A c.1454C>A (p.Ala485Asp) n.1989C>A n.2011C>A | gnomAD v4 |
16 | g.50711938C>G | CA395870616 | NOD2 | c.1946C>G (p.Ala649Gly) c.2027C>G (p.Ala676Gly) c.1523C>G (p.Ala508Gly) c.1361C>G (p.Ala454Gly) n.2036C>G c.1454C>G (p.Ala485Gly) n.1989C>G n.2011C>G | gnomAD v4 |
16 | g.50711938C>T | CA395870617 | NOD2 | c.1946C>T (p.Ala649Val) c.2027C>T (p.Ala676Val) c.1523C>T (p.Ala508Val) c.1361C>T (p.Ala454Val) n.2036C>T c.1454C>T (p.Ala485Val) n.1989C>T n.2011C>T | COSMIC |
16 | g.50711939C>A | CA495779255 | NOD2 | c.1947C>A (p.Ala649=) c.2028C>A (p.Ala676=) c.1524C>A (p.Ala508=) c.1362C>A (p.Ala454=) n.2037C>A c.1455C>A (p.Ala485=) n.1990C>A n.2012C>A | |
16 | g.50711939C>G | CA495779256 | NOD2 | c.1947C>G (p.Ala649=) c.2028C>G (p.Ala676=) c.1524C>G (p.Ala508=) c.1362C>G (p.Ala454=) n.2037C>G c.1455C>G (p.Ala485=) n.1990C>G n.2012C>G | |
16 | g.50711939C>T | CA495779257 | NOD2 | c.1947C>T (p.Ala649=) c.2028C>T (p.Ala676=) c.1524C>T (p.Ala508=) c.1362C>T (p.Ala454=) n.2037C>T c.1455C>T (p.Ala485=) n.1990C>T n.2012C>T | |
16 | g.50711940T>A | CA395870619 | NOD2 | c.1948T>A (p.Phe650Ile) c.2029T>A (p.Phe677Ile) c.1525T>A (p.Phe509Ile) c.1363T>A (p.Phe455Ile) n.2038T>A c.1456T>A (p.Phe486Ile) n.1991T>A n.2013T>A | |
16 | g.50711940T>C | CA395870621 | NOD2 | c.1948T>C (p.Phe650Leu) c.2029T>C (p.Phe677Leu) c.1525T>C (p.Phe509Leu) c.1363T>C (p.Phe455Leu) n.2038T>C c.1456T>C (p.Phe486Leu) n.1991T>C n.2013T>C | gnomAD v4 |
16 | g.50711940T>G | CA395870622 | NOD2 | c.1948T>G (p.Phe650Val) c.2029T>G (p.Phe677Val) c.1525T>G (p.Phe509Val) c.1363T>G (p.Phe455Val) n.2038T>G c.1456T>G (p.Phe486Val) n.1991T>G n.2013T>G | |
16 | g.50711941T>A | CA395870625 | NOD2 | c.1949T>A (p.Phe650Tyr) c.2030T>A (p.Phe677Tyr) c.1526T>A (p.Phe509Tyr) c.1364T>A (p.Phe455Tyr) n.2039T>A c.1457T>A (p.Phe486Tyr) n.1992T>A n.2014T>A | |
16 | g.50711941T>C | CA395870627 | NOD2 | c.1949T>C (p.Phe650Ser) c.2030T>C (p.Phe677Ser) c.1526T>C (p.Phe509Ser) c.1364T>C (p.Phe455Ser) n.2039T>C c.1457T>C (p.Phe486Ser) n.1992T>C n.2014T>C | ClinVar dbSNP |
16 | g.50711941T>G | CA395870628 | NOD2 | c.1949T>G (p.Phe650Cys) c.2030T>G (p.Phe677Cys) c.1526T>G (p.Phe509Cys) c.1364T>G (p.Phe455Cys) n.2039T>G c.1457T>G (p.Phe486Cys) n.1992T>G n.2014T>G | |
16 | g.50711941_50711942delinsTC | CA2221862358 | NOD2 | c.1949_1950delinsTC (p.Phe650=) c.2030_2031delinsTC (p.Phe677=) c.1526_1527delinsTC (p.Phe509=) c.1364_1365delinsTC (p.Phe455=) n.2039_2040delinsTC c.1457_1458delinsTC (p.Phe486=) n.1992_1993delinsTC n.2014_2015delinsTC | |
16 | g.50711942C>A | CA395870630 | NOD2 | c.1950C>A (p.Phe650Leu) c.2031C>A (p.Phe677Leu) c.1527C>A (p.Phe509Leu) c.1365C>A (p.Phe455Leu) n.2040C>A c.1458C>A (p.Phe486Leu) n.1993C>A n.2015C>A | |
16 | g.50711942C= | CA2221862362 | NOD2 | c.1950C= (p.Phe650=) c.2031C= (p.Phe677=) c.1527C= (p.Phe509=) c.1365C= (p.Phe455=) n.2040C= c.1458C= (p.Phe486=) n.1993C= n.2015C= | |
16 | g.50711942C>G | CA8051676 | NOD2 | c.1950C>G (p.Phe650Leu) c.2031C>G (p.Phe677Leu) c.1527C>G (p.Phe509Leu) c.1365C>G (p.Phe455Leu) n.2040C>G c.1458C>G (p.Phe486Leu) n.1993C>G n.2015C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50711942C>T | CA495779259 | NOD2 | c.1950C>T (p.Phe650=) c.2031C>T (p.Phe677=) c.1527C>T (p.Phe509=) c.1365C>T (p.Phe455=) n.2040C>T c.1458C>T (p.Phe486=) n.1993C>T n.2015C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.50711943del | CA622654310 | NOD2 | c.1951del (p.Leu651TrpfsTer?) c.2032del (p.Leu678TrpfsTer?) c.1528del (p.Leu510TrpfsTer?) c.1366del (p.Leu456TrpfsTer?) n.2041del c.1459del (p.Leu487TrpfsTer?) n.1994del n.2016del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.50711943C>A | CA395870632 | NOD2 | c.1951C>A (p.Leu651Met) c.2032C>A (p.Leu678Met) c.1528C>A (p.Leu510Met) c.1366C>A (p.Leu456Met) n.2041C>A c.1459C>A (p.Leu487Met) n.1994C>A n.2016C>A | |
16 | g.50711943C>G | CA395870633 | NOD2 | c.1951C>G (p.Leu651Val) c.2032C>G (p.Leu678Val) c.1528C>G (p.Leu510Val) c.1366C>G (p.Leu456Val) n.2041C>G c.1459C>G (p.Leu487Val) n.1994C>G n.2016C>G | |
16 | g.50711943C>T | CA495779260 | NOD2 | c.1951C>T (p.Leu651=) c.2032C>T (p.Leu678=) c.1528C>T (p.Leu510=) c.1366C>T (p.Leu456=) n.2041C>T c.1459C>T (p.Leu487=) n.1994C>T n.2016C>T | ClinVar dbSNP |
16 | g.50711944T>A | CA395870636 | NOD2 | c.1952T>A (p.Leu651Gln) c.2033T>A (p.Leu678Gln) c.1529T>A (p.Leu510Gln) c.1367T>A (p.Leu456Gln) n.2042T>A c.1460T>A (p.Leu487Gln) n.1995T>A n.2017T>A | |
16 | g.50711944T>C | CA395870639 | NOD2 | c.1952T>C (p.Leu651Pro) c.2033T>C (p.Leu678Pro) c.1529T>C (p.Leu510Pro) c.1367T>C (p.Leu456Pro) n.2042T>C c.1460T>C (p.Leu487Pro) n.1995T>C n.2017T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50711944T>G | CA395870637 | NOD2 | c.1952T>G (p.Leu651Arg) c.2033T>G (p.Leu678Arg) c.1529T>G (p.Leu510Arg) c.1367T>G (p.Leu456Arg) n.2042T>G c.1460T>G (p.Leu487Arg) n.1995T>G n.2017T>G | |
16 | g.50711944T= | CA2221862365 | NOD2 | c.1952T= (p.Leu651=) c.2033T= (p.Leu678=) c.1529T= (p.Leu510=) c.1367T= (p.Leu456=) n.2042T= c.1460T= (p.Leu487=) n.1995T= n.2017T= | |
16 | g.50711945G>A | CA495779262 | NOD2 | c.1953G>A (p.Leu651=) c.2034G>A (p.Leu678=) c.1530G>A (p.Leu510=) c.1368G>A (p.Leu456=) n.2043G>A c.1461G>A (p.Leu487=) n.1996G>A n.2018G>A | |
16 | g.50711945G>C | CA495779263 | NOD2 | c.1953G>C (p.Leu651=) c.2034G>C (p.Leu678=) c.1530G>C (p.Leu510=) c.1368G>C (p.Leu456=) n.2043G>C c.1461G>C (p.Leu487=) n.1996G>C n.2018G>C | COSMIC |
16 | g.50711945G>T | CA495779264 | NOD2 | c.1953G>T (p.Leu651=) c.2034G>T (p.Leu678=) c.1530G>T (p.Leu510=) c.1368G>T (p.Leu456=) n.2043G>T c.1461G>T (p.Leu487=) n.1996G>T n.2018G>T | |
16 | g.50711946dup | CA2633164533 | NOD2 | c.1954dup (p.Ala652GlyfsTer14) c.2035dup (p.Ala679GlyfsTer14) c.1531dup (p.Ala511GlyfsTer14) c.1369dup (p.Ala457GlyfsTer14) n.2044dup c.1462dup (p.Ala488GlyfsTer14) n.1997dup n.2019dup | gnomAD v4 |
16 | g.50711946G>A | CA395870642 | NOD2 | c.1954G>A (p.Ala652Thr) c.2035G>A (p.Ala679Thr) c.1531G>A (p.Ala511Thr) c.1369G>A (p.Ala457Thr) n.2044G>A c.1462G>A (p.Ala488Thr) n.1997G>A n.2019G>A | |
16 | g.50711946G>C | CA395870643 | NOD2 | c.1954G>C (p.Ala652Pro) c.2035G>C (p.Ala679Pro) c.1531G>C (p.Ala511Pro) c.1369G>C (p.Ala457Pro) n.2044G>C c.1462G>C (p.Ala488Pro) n.1997G>C n.2019G>C | |
16 | g.50711946G>T | CA395870645 | NOD2 | c.1954G>T (p.Ala652Ser) c.2035G>T (p.Ala679Ser) c.1531G>T (p.Ala511Ser) c.1369G>T (p.Ala457Ser) n.2044G>T c.1462G>T (p.Ala488Ser) n.1997G>T n.2019G>T | |
16 | g.50711947C>A | CA395870648 | NOD2 | c.1955C>A (p.Ala652Glu) c.2036C>A (p.Ala679Glu) c.1532C>A (p.Ala511Glu) c.1370C>A (p.Ala457Glu) n.2045C>A c.1463C>A (p.Ala488Glu) n.1998C>A n.2020C>A | |
16 | g.50711947C>G | CA395870650 | NOD2 | c.1955C>G (p.Ala652Gly) c.2036C>G (p.Ala679Gly) c.1532C>G (p.Ala511Gly) c.1370C>G (p.Ala457Gly) n.2045C>G c.1463C>G (p.Ala488Gly) n.1998C>G n.2020C>G | |
16 | g.50711947C>T | CA395870652 | NOD2 | c.1955C>T (p.Ala652Val) c.2036C>T (p.Ala679Val) c.1532C>T (p.Ala511Val) c.1370C>T (p.Ala457Val) n.2045C>T c.1463C>T (p.Ala488Val) n.1998C>T n.2020C>T | |
16 | g.50711948A= | CA2221862367 | NOD2 | c.1956A= (p.Ala652=) c.2037A= (p.Ala679=) c.1533A= (p.Ala511=) c.1371A= (p.Ala457=) n.2046A= c.1464A= (p.Ala488=) n.1999A= n.2021A= | |
16 | g.50711948A>C | CA495779268 | NOD2 | c.1956A>C (p.Ala652=) c.2037A>C (p.Ala679=) c.1533A>C (p.Ala511=) c.1371A>C (p.Ala457=) n.2046A>C c.1464A>C (p.Ala488=) n.1999A>C n.2021A>C | gnomAD v4 |
16 | g.50711948A>G | CA8051677 | NOD2 | c.1956A>G (p.Ala652=) c.2037A>G (p.Ala679=) c.1533A>G (p.Ala511=) c.1371A>G (p.Ala457=) n.2046A>G c.1464A>G (p.Ala488=) n.1999A>G n.2021A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50711948A>T | CA495779269 | NOD2 | c.1956A>T (p.Ala652=) c.2037A>T (p.Ala679=) c.1533A>T (p.Ala511=) c.1371A>T (p.Ala457=) n.2046A>T c.1464A>T (p.Ala488=) n.1999A>T n.2021A>T | |
16 | g.50711949G>A | CA8051678 | NOD2 | c.1957G>A (p.Gly653Arg) c.2038G>A (p.Gly680Arg) c.1534G>A (p.Gly512Arg) c.1372G>A (p.Gly458Arg) n.2047G>A c.1465G>A (p.Gly489Arg) n.2000G>A n.2022G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50711949G>C | CA395870655 | NOD2 | c.1957G>C (p.Gly653Arg) c.2038G>C (p.Gly680Arg) c.1534G>C (p.Gly512Arg) c.1372G>C (p.Gly458Arg) n.2047G>C c.1465G>C (p.Gly489Arg) n.2000G>C n.2022G>C | |
16 | g.50711949G= | CA2221862371 | NOD2 | c.1957G= (p.Gly653=) c.2038G= (p.Gly680=) c.1534G= (p.Gly512=) c.1372G= (p.Gly458=) n.2047G= c.1465G= (p.Gly489=) n.2000G= n.2022G= | |
16 | g.50711949G>T | CA395870657 | NOD2 | c.1957G>T (p.Gly653Trp) c.2038G>T (p.Gly680Trp) c.1534G>T (p.Gly512Trp) c.1372G>T (p.Gly458Trp) n.2047G>T c.1465G>T (p.Gly489Trp) n.2000G>T n.2022G>T | gnomAD v4 |
16 | g.50711950G>A | CA395870662 | NOD2 | c.1958G>A (p.Gly653Glu) c.2039G>A (p.Gly680Glu) c.1535G>A (p.Gly512Glu) c.1373G>A (p.Gly458Glu) n.2048G>A c.1466G>A (p.Gly489Glu) n.2001G>A n.2023G>A | |
16 | g.50711950G>C | CA395870661 | NOD2 | c.1958G>C (p.Gly653Ala) c.2039G>C (p.Gly680Ala) c.1535G>C (p.Gly512Ala) c.1373G>C (p.Gly458Ala) n.2048G>C c.1466G>C (p.Gly489Ala) n.2001G>C n.2023G>C | |
16 | g.50711950G>T | CA395870659 | NOD2 | c.1958G>T (p.Gly653Val) c.2039G>T (p.Gly680Val) c.1535G>T (p.Gly512Val) c.1373G>T (p.Gly458Val) n.2048G>T c.1466G>T (p.Gly489Val) n.2001G>T n.2023G>T | |
16 | g.50711951G>A | CA8051679 | NOD2 | c.1959G>A (p.Gly653=) c.2040G>A (p.Gly680=) c.1536G>A (p.Gly512=) c.1374G>A (p.Gly458=) n.2049G>A c.1467G>A (p.Gly489=) n.2002G>A n.2024G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50711951G>C | CA495779274 | NOD2 | c.1959G>C (p.Gly653=) c.2040G>C (p.Gly680=) c.1536G>C (p.Gly512=) c.1374G>C (p.Gly458=) n.2049G>C c.1467G>C (p.Gly489=) n.2002G>C n.2024G>C | |
16 | g.50711951G= | CA2221862375 | NOD2 | c.1959G= (p.Gly653=) c.2040G= (p.Gly680=) c.1536G= (p.Gly512=) c.1374G= (p.Gly458=) n.2049G= c.1467G= (p.Gly489=) n.2002G= n.2024G= | |
16 | g.50711951G>T | CA495779273 | NOD2 | c.1959G>T (p.Gly653=) c.2040G>T (p.Gly680=) c.1536G>T (p.Gly512=) c.1374G>T (p.Gly458=) n.2049G>T c.1467G>T (p.Gly489=) n.2002G>T n.2024G>T | |
16 | g.50711952C>A | CA395870668 | NOD2 | c.1960C>A (p.Leu654Met) c.2041C>A (p.Leu681Met) c.1537C>A (p.Leu513Met) c.1375C>A (p.Leu459Met) n.2050C>A c.1468C>A (p.Leu490Met) n.2003C>A n.2025C>A | |
16 | g.50711952C= | CA2221862378 | NOD2 | c.1960C= (p.Leu654=) c.2041C= (p.Leu681=) c.1537C= (p.Leu513=) c.1375C= (p.Leu459=) n.2050C= c.1468C= (p.Leu490=) n.2003C= n.2025C= | |
16 | g.50711952C>G | CA395870665 | NOD2 | c.1960C>G (p.Leu654Val) c.2041C>G (p.Leu681Val) c.1537C>G (p.Leu513Val) c.1375C>G (p.Leu459Val) n.2050C>G c.1468C>G (p.Leu490Val) n.2003C>G n.2025C>G | gnomAD v4 |
16 | g.50711952C>T | CA8051680 | NOD2 | c.1960C>T (p.Leu654=) c.2041C>T (p.Leu681=) c.1537C>T (p.Leu513=) c.1375C>T (p.Leu459=) n.2050C>T c.1468C>T (p.Leu490=) n.2003C>T n.2025C>T | dbSNP ExAC gnomAD v2 |
16 | g.50711953T>A | CA395870669 | NOD2 | c.1961T>A (p.Leu654Gln) c.2042T>A (p.Leu681Gln) c.1538T>A (p.Leu513Gln) c.1376T>A (p.Leu459Gln) n.2051T>A c.1469T>A (p.Leu490Gln) n.2004T>A n.2026T>A | |
16 | g.50711953T>C | CA395870670 | NOD2 | c.1961T>C (p.Leu654Pro) c.2042T>C (p.Leu681Pro) c.1538T>C (p.Leu513Pro) c.1376T>C (p.Leu459Pro) n.2051T>C c.1469T>C (p.Leu490Pro) n.2004T>C n.2026T>C | |
16 | g.50711953T>G | CA395870672 | NOD2 | c.1961T>G (p.Leu654Arg) c.2042T>G (p.Leu681Arg) c.1538T>G (p.Leu513Arg) c.1376T>G (p.Leu459Arg) n.2051T>G c.1469T>G (p.Leu490Arg) n.2004T>G n.2026T>G | |
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 |