Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.50710771_50710772delinsACCA2221859450NOD2c.779_780delinsAC (p.His260=)
c.860_861delinsAC (p.His287=)
n.920_921delinsAC
c.*1475_*1476delinsAC (n.*1475_*1476delinsAC)
n.858_859delinsAC
c.356_357delinsAC (p.His119=)
c.194_195delinsAC (p.His65=)
n.869_870delinsAC
c.287_288delinsAC (p.His96=)
n.822_823delinsAC
n.844_845delinsAC
16g.50710772C>ACA395867720NOD2c.780C>A (p.His260Gln)
c.861C>A (p.His287Gln)
n.921C>A
c.*1476C>A (n.*1476C>A)
n.859C>A
c.357C>A (p.His119Gln)
c.195C>A (p.His65Gln)
n.870C>A
c.288C>A (p.His96Gln)
n.823C>A
n.845C>A
16g.50710772C>GCA395867721NOD2c.780C>G (p.His260Gln)
c.861C>G (p.His287Gln)
n.921C>G
c.*1476C>G (n.*1476C>G)
n.859C>G
c.357C>G (p.His119Gln)
c.195C>G (p.His65Gln)
n.870C>G
c.288C>G (p.His96Gln)
n.823C>G
n.845C>G
16g.50710772C>TCA495455801NOD2c.780C>T (p.His260=)
c.861C>T (p.His287=)
n.921C>T
c.*1476C>T (n.*1476C>T)
n.859C>T
c.357C>T (p.His119=)
c.195C>T (p.His65=)
n.870C>T
c.288C>T (p.His96=)
n.823C>T
n.845C>T
 COSMIC
16g.50710773delCA1139664678NOD2c.781del (p.Leu261SerfsTer?)
c.862del (p.Leu288SerfsTer?)
n.922del
c.*1477del (n.*1477del)
n.860del
c.358del (p.Leu120SerfsTer?)
c.196del (p.Leu66SerfsTer?)
n.871del
c.289del (p.Leu97SerfsTer?)
n.824del
n.846del
 ClinVar dbSNP gnomAD v4
16g.50710773C>ACA395867724NOD2c.781C>A (p.Leu261Ile)
c.862C>A (p.Leu288Ile)
n.922C>A
c.*1477C>A (n.*1477C>A)
n.860C>A
c.358C>A (p.Leu120Ile)
c.196C>A (p.Leu66Ile)
n.871C>A
c.289C>A (p.Leu97Ile)
n.824C>A
n.846C>A
16g.50710773C=CA2221859461NOD2c.781C= (p.Leu261=)
c.862C= (p.Leu288=)
n.922C=
c.*1477C= (n.*1477C=)
n.860C=
c.358C= (p.Leu120=)
c.196C= (p.Leu66=)
n.871C=
c.289C= (p.Leu97=)
n.824C=
n.846C=
16g.50710773C>GCA395867723NOD2c.781C>G (p.Leu261Val)
c.862C>G (p.Leu288Val)
n.922C>G
c.*1477C>G (n.*1477C>G)
n.860C>G
c.358C>G (p.Leu120Val)
c.196C>G (p.Leu66Val)
n.871C>G
c.289C>G (p.Leu97Val)
n.824C>G
n.846C>G
 gnomAD v4
16g.50710773C>TCA395867722NOD2c.781C>T (p.Leu261Phe)
c.862C>T (p.Leu288Phe)
n.922C>T
c.*1477C>T (n.*1477C>T)
n.860C>T
c.358C>T (p.Leu120Phe)
c.196C>T (p.Leu66Phe)
n.871C>T
c.289C>T (p.Leu97Phe)
n.824C>T
n.846C>T
 dbSNP
16g.50710774T>ACA395867725NOD2c.782T>A (p.Leu261His)
c.863T>A (p.Leu288His)
n.923T>A
c.*1478T>A (n.*1478T>A)
n.861T>A
c.359T>A (p.Leu120His)
c.197T>A (p.Leu66His)
n.872T>A
c.290T>A (p.Leu97His)
n.825T>A
n.847T>A
16g.50710774T>CCA395867726NOD2c.782T>C (p.Leu261Pro)
c.863T>C (p.Leu288Pro)
n.923T>C
c.*1478T>C (n.*1478T>C)
n.861T>C
c.359T>C (p.Leu120Pro)
c.197T>C (p.Leu66Pro)
n.872T>C
c.290T>C (p.Leu97Pro)
n.825T>C
n.847T>C
 ClinVar
16g.50710774T>GCA395867727NOD2c.782T>G (p.Leu261Arg)
c.863T>G (p.Leu288Arg)
n.923T>G
c.*1478T>G (n.*1478T>G)
n.861T>G
c.359T>G (p.Leu120Arg)
c.197T>G (p.Leu66Arg)
n.872T>G
c.290T>G (p.Leu97Arg)
n.825T>G
n.847T>G
16g.50710775C>ACA495455822NOD2c.783C>A (p.Leu261=)
c.864C>A (p.Leu288=)
n.924C>A
c.*1479C>A (n.*1479C>A)
n.862C>A
c.360C>A (p.Leu120=)
c.198C>A (p.Leu66=)
n.873C>A
c.291C>A (p.Leu97=)
n.826C>A
n.848C>A
16g.50710775C>GCA495455826NOD2c.783C>G (p.Leu261=)
c.864C>G (p.Leu288=)
n.924C>G
c.*1479C>G (n.*1479C>G)
n.862C>G
c.360C>G (p.Leu120=)
c.198C>G (p.Leu66=)
n.873C>G
c.291C>G (p.Leu97=)
n.826C>G
n.848C>G
16g.50710775C>TCA495455828NOD2c.783C>T (p.Leu261=)
c.864C>T (p.Leu288=)
n.924C>T
c.*1479C>T (n.*1479C>T)
n.862C>T
c.360C>T (p.Leu120=)
c.198C>T (p.Leu66=)
n.873C>T
c.291C>T (p.Leu97=)
n.826C>T
n.848C>T
16g.50710776A>CCA395867728NOD2c.784A>C (p.Asn262His)
c.865A>C (p.Asn289His)
n.925A>C
c.*1480A>C (n.*1480A>C)
n.863A>C
c.361A>C (p.Asn121His)
c.199A>C (p.Asn67His)
n.874A>C
c.292A>C (p.Asn98His)
n.827A>C
n.849A>C
16g.50710776A>GCA395867729NOD2c.784A>G (p.Asn262Asp)
c.865A>G (p.Asn289Asp)
n.925A>G
c.*1480A>G (n.*1480A>G)
n.863A>G
c.361A>G (p.Asn121Asp)
c.199A>G (p.Asn67Asp)
n.874A>G
c.292A>G (p.Asn98Asp)
n.827A>G
n.849A>G
16g.50710776A>TCA395867730NOD2c.784A>T (p.Asn262Tyr)
c.865A>T (p.Asn289Tyr)
n.925A>T
c.*1480A>T (n.*1480A>T)
n.863A>T
c.361A>T (p.Asn121Tyr)
c.199A>T (p.Asn67Tyr)
n.874A>T
c.292A>T (p.Asn98Tyr)
n.827A>T
n.849A>T
16g.50710777A=CA2221859465NOD2c.785A= (p.Asn262=)
c.866A= (p.Asn289=)
n.926A=
c.*1481A= (n.*1481A=)
n.864A=
c.362A= (p.Asn121=)
c.200A= (p.Asn67=)
n.875A=
c.293A= (p.Asn98=)
n.828A=
n.850A=
16g.50710777A>CCA395867731NOD2c.785A>C (p.Asn262Thr)
c.866A>C (p.Asn289Thr)
n.926A>C
c.*1481A>C (n.*1481A>C)
n.864A>C
c.362A>C (p.Asn121Thr)
c.200A>C (p.Asn67Thr)
n.875A>C
c.293A>C (p.Asn98Thr)
n.828A>C
n.850A>C
 gnomAD v4
16g.50710777A>GCA8051413NOD2c.785A>G (p.Asn262Ser)
c.866A>G (p.Asn289Ser)
n.926A>G
c.*1481A>G (n.*1481A>G)
n.864A>G
c.362A>G (p.Asn121Ser)
c.200A>G (p.Asn67Ser)
n.875A>G
c.293A>G (p.Asn98Ser)
n.828A>G
n.850A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50710777A>TCA395867732NOD2c.785A>T (p.Asn262Ile)
c.866A>T (p.Asn289Ile)
n.926A>T
c.*1481A>T (n.*1481A>T)
n.864A>T
c.362A>T (p.Asn121Ile)
c.200A>T (p.Asn67Ile)
n.875A>T
c.293A>T (p.Asn98Ile)
n.828A>T
n.850A>T
16g.50710778T>ACA395867733NOD2c.786T>A (p.Asn262Lys)
c.867T>A (p.Asn289Lys)
n.927T>A
c.*1482T>A (n.*1482T>A)
n.865T>A
c.363T>A (p.Asn121Lys)
c.201T>A (p.Asn67Lys)
n.876T>A
c.294T>A (p.Asn98Lys)
n.829T>A
n.851T>A
16g.50710778T>CCA495455850NOD2c.786T>C (p.Asn262=)
c.867T>C (p.Asn289=)
n.927T>C
c.*1482T>C (n.*1482T>C)
n.865T>C
c.363T>C (p.Asn121=)
c.201T>C (p.Asn67=)
n.876T>C
c.294T>C (p.Asn98=)
n.829T>C
n.851T>C
16g.50710778T>GCA395867734NOD2c.786T>G (p.Asn262Lys)
c.867T>G (p.Asn289Lys)
n.927T>G
c.*1482T>G (n.*1482T>G)
n.865T>G
c.363T>G (p.Asn121Lys)
c.201T>G (p.Asn67Lys)
n.876T>G
c.294T>G (p.Asn98Lys)
n.829T>G
n.851T>G
16g.50710778_50710781dupCA2633163808NOD2c.786_789dup (p.Asp264Ter)
c.867_870dup (p.Asp291Ter)
n.927_930dup
c.*1482_*1485dup (n.*1482_*1485dup)
n.865_868dup
c.363_366dup (p.Asp123Ter)
c.201_204dup (p.Asp69Ter)
n.876_879dup
c.294_297dup (p.Asp100Ter)
n.829_832dup
n.851_854dup
 gnomAD v4
16g.50710779G>ACA395867735NOD2c.787G>A (p.Asp263Asn)
c.868G>A (p.Asp290Asn)
n.928G>A
c.*1483G>A (n.*1483G>A)
n.866G>A
c.364G>A (p.Asp122Asn)
c.202G>A (p.Asp68Asn)
n.877G>A
c.295G>A (p.Asp99Asn)
n.830G>A
n.852G>A
16g.50710779G>CCA395867736NOD2c.787G>C (p.Asp263His)
c.868G>C (p.Asp290His)
n.928G>C
c.*1483G>C (n.*1483G>C)
n.866G>C
c.364G>C (p.Asp122His)
c.202G>C (p.Asp68His)
n.877G>C
c.295G>C (p.Asp99His)
n.830G>C
n.852G>C
16g.50710779G>TCA395867737NOD2c.787G>T (p.Asp263Tyr)
c.868G>T (p.Asp290Tyr)
n.928G>T
c.*1483G>T (n.*1483G>T)
n.866G>T
c.364G>T (p.Asp122Tyr)
c.202G>T (p.Asp68Tyr)
n.877G>T
c.295G>T (p.Asp99Tyr)
n.830G>T
n.852G>T
16g.50710780A>CCA395867738NOD2c.788A>C (p.Asp263Ala)
c.869A>C (p.Asp290Ala)
n.929A>C
c.*1484A>C (n.*1484A>C)
n.867A>C
c.365A>C (p.Asp122Ala)
c.203A>C (p.Asp68Ala)
n.878A>C
c.296A>C (p.Asp99Ala)
n.831A>C
n.853A>C
16g.50710780A>GCA395867739NOD2c.788A>G (p.Asp263Gly)
c.869A>G (p.Asp290Gly)
n.929A>G
c.*1484A>G (n.*1484A>G)
n.867A>G
c.365A>G (p.Asp122Gly)
c.203A>G (p.Asp68Gly)
n.878A>G
c.296A>G (p.Asp99Gly)
n.831A>G
n.853A>G
16g.50710780A>TCA395867740NOD2c.788A>T (p.Asp263Val)
c.869A>T (p.Asp290Val)
n.929A>T
c.*1484A>T (n.*1484A>T)
n.867A>T
c.365A>T (p.Asp122Val)
c.203A>T (p.Asp68Val)
n.878A>T
c.296A>T (p.Asp99Val)
n.831A>T
n.853A>T
 ClinVar dbSNP gnomAD v4 COSMIC
16g.50710781C>ACA395867741NOD2c.789C>A (p.Asp263Glu)
c.870C>A (p.Asp290Glu)
n.930C>A
c.*1485C>A (n.*1485C>A)
n.868C>A
c.366C>A (p.Asp122Glu)
c.204C>A (p.Asp68Glu)
n.879C>A
c.297C>A (p.Asp99Glu)
n.832C>A
n.854C>A
 gnomAD v4
16g.50710781C=CA2221859477NOD2c.789C= (p.Asp263=)
c.870C= (p.Asp290=)
n.930C=
c.*1485C= (n.*1485C=)
n.868C=
c.366C= (p.Asp122=)
c.204C= (p.Asp68=)
n.879C=
c.297C= (p.Asp99=)
n.832C=
n.854C=
16g.50710781C>GCA395867742NOD2c.789C>G (p.Asp263Glu)
c.870C>G (p.Asp290Glu)
n.930C>G
c.*1485C>G (n.*1485C>G)
n.868C>G
c.366C>G (p.Asp122Glu)
c.204C>G (p.Asp68Glu)
n.879C>G
c.297C>G (p.Asp99Glu)
n.832C>G
n.854C>G
 gnomAD v4
16g.50710781C>TCA8051414NOD2c.789C>T (p.Asp263=)
c.870C>T (p.Asp290=)
n.930C>T
c.*1485C>T (n.*1485C>T)
n.868C>T
c.366C>T (p.Asp122=)
c.204C>T (p.Asp68=)
n.879C>T
c.297C>T (p.Asp99=)
n.832C>T
n.854C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50710782G>ACA150345NOD2c.790G>A (p.Asp264Asn)
c.871G>A (p.Asp291Asn)
n.931G>A
c.*1486G>A (n.*1486G>A)
n.869G>A
c.367G>A (p.Asp123Asn)
c.205G>A (p.Asp69Asn)
n.880G>A
c.298G>A (p.Asp100Asn)
n.833G>A
n.855G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.50710782G>CCA395867744NOD2c.790G>C (p.Asp264His)
c.871G>C (p.Asp291His)
n.931G>C
c.*1486G>C (n.*1486G>C)
n.869G>C
c.367G>C (p.Asp123His)
c.205G>C (p.Asp69His)
n.880G>C
c.298G>C (p.Asp100His)
n.833G>C
n.855G>C
16g.50710782G=CA2221859487NOD2c.790G= (p.Asp264=)
c.871G= (p.Asp291=)
n.931G=
c.*1486G= (n.*1486G=)
n.869G=
c.367G= (p.Asp123=)
c.205G= (p.Asp69=)
n.880G=
c.298G= (p.Asp100=)
n.833G=
n.855G=
16g.50710782G>TCA395867743NOD2c.790G>T (p.Asp264Tyr)
c.871G>T (p.Asp291Tyr)
n.931G>T
c.*1486G>T (n.*1486G>T)
n.869G>T
c.367G>T (p.Asp123Tyr)
c.205G>T (p.Asp69Tyr)
n.880G>T
c.298G>T (p.Asp100Tyr)
n.833G>T
n.855G>T
 dbSNP
16g.50710783A=CA2221859493NOD2c.791A= (p.Asp264=)
c.872A= (p.Asp291=)
n.932A=
c.*1487A= (n.*1487A=)
n.870A=
c.368A= (p.Asp123=)
c.206A= (p.Asp69=)
n.881A=
c.299A= (p.Asp100=)
n.834A=
n.856A=
16g.50710783A>CCA395867745NOD2c.791A>C (p.Asp264Ala)
c.872A>C (p.Asp291Ala)
n.932A>C
c.*1487A>C (n.*1487A>C)
n.870A>C
c.368A>C (p.Asp123Ala)
c.206A>C (p.Asp69Ala)
n.881A>C
c.299A>C (p.Asp100Ala)
n.834A>C
n.856A>C
16g.50710783A>GCA8051415NOD2c.791A>G (p.Asp264Gly)
c.872A>G (p.Asp291Gly)
n.932A>G
c.*1487A>G (n.*1487A>G)
n.870A>G
c.368A>G (p.Asp123Gly)
c.206A>G (p.Asp69Gly)
n.881A>G
c.299A>G (p.Asp100Gly)
n.834A>G
n.856A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50710783A>TCA395867746NOD2c.791A>T (p.Asp264Val)
c.872A>T (p.Asp291Val)
n.932A>T
c.*1487A>T (n.*1487A>T)
n.870A>T
c.368A>T (p.Asp123Val)
c.206A>T (p.Asp69Val)
n.881A>T
c.299A>T (p.Asp100Val)
n.834A>T
n.856A>T
16g.50710784T>ACA395867747NOD2c.792T>A (p.Asp264Glu)
c.873T>A (p.Asp291Glu)
n.933T>A
c.*1488T>A (n.*1488T>A)
n.871T>A
c.369T>A (p.Asp123Glu)
c.207T>A (p.Asp69Glu)
n.882T>A
c.300T>A (p.Asp100Glu)
n.835T>A
n.857T>A
16g.50710784T>CCA8051416NOD2c.792T>C (p.Asp264=)
c.873T>C (p.Asp291=)
n.933T>C
c.*1488T>C (n.*1488T>C)
n.871T>C
c.369T>C (p.Asp123=)
c.207T>C (p.Asp69=)
n.882T>C
c.300T>C (p.Asp100=)
n.835T>C
n.857T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50710784T>GCA395867748NOD2c.792T>G (p.Asp264Glu)
c.873T>G (p.Asp291Glu)
n.933T>G
c.*1488T>G (n.*1488T>G)
n.871T>G
c.369T>G (p.Asp123Glu)
c.207T>G (p.Asp69Glu)
n.882T>G
c.300T>G (p.Asp100Glu)
n.835T>G
n.857T>G
16g.50710784T=CA2221859496NOD2c.792T= (p.Asp264=)
c.873T= (p.Asp291=)
n.933T=
c.*1488T= (n.*1488T=)
n.871T=
c.369T= (p.Asp123=)
c.207T= (p.Asp69=)
n.882T=
c.300T= (p.Asp100=)
n.835T=
n.857T=
16g.50710785G>ACA395867749NOD2c.793G>A (p.Ala265Thr)
c.874G>A (p.Ala292Thr)
n.934G>A
c.*1489G>A (n.*1489G>A)
n.872G>A
c.370G>A (p.Ala124Thr)
c.208G>A (p.Ala70Thr)
n.883G>A
c.301G>A (p.Ala101Thr)
n.836G>A
n.858G>A
16g.50710785G>CCA395867750NOD2c.793G>C (p.Ala265Pro)
c.874G>C (p.Ala292Pro)
n.934G>C
c.*1489G>C (n.*1489G>C)
n.872G>C
c.370G>C (p.Ala124Pro)
c.208G>C (p.Ala70Pro)
n.883G>C
c.301G>C (p.Ala101Pro)
n.836G>C
n.858G>C
16g.50710785G>TCA395867751NOD2c.793G>T (p.Ala265Ser)
c.874G>T (p.Ala292Ser)
n.934G>T
c.*1489G>T (n.*1489G>T)
n.872G>T
c.370G>T (p.Ala124Ser)
c.208G>T (p.Ala70Ser)
n.883G>T
c.301G>T (p.Ala101Ser)
n.836G>T
n.858G>T
16g.50710786C>ACA395867752NOD2c.794C>A (p.Ala265Glu)
c.875C>A (p.Ala292Glu)
n.935C>A
c.*1490C>A (n.*1490C>A)
n.873C>A
c.371C>A (p.Ala124Glu)
c.209C>A (p.Ala70Glu)
n.884C>A
c.302C>A (p.Ala101Glu)
n.837C>A
n.859C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.50710786C=CA2221859502NOD2c.794C= (p.Ala265=)
c.875C= (p.Ala292=)
n.935C=
c.*1490C= (n.*1490C=)
n.873C=
c.371C= (p.Ala124=)
c.209C= (p.Ala70=)
n.884C=
c.302C= (p.Ala101=)
n.837C=
n.859C=
16g.50710786C>GCA395867753NOD2c.794C>G (p.Ala265Gly)
c.875C>G (p.Ala292Gly)
n.935C>G
c.*1490C>G (n.*1490C>G)
n.873C>G
c.371C>G (p.Ala124Gly)
c.209C>G (p.Ala70Gly)
n.884C>G
c.302C>G (p.Ala101Gly)
n.837C>G
n.859C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.50710786C>TCA8051417NOD2c.794C>T (p.Ala265Val)
c.875C>T (p.Ala292Val)
n.935C>T
c.*1490C>T (n.*1490C>T)
n.873C>T
c.371C>T (p.Ala124Val)
c.209C>T (p.Ala70Val)
n.884C>T
c.302C>T (p.Ala101Val)
n.837C>T
n.859C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.50710787G>ACA495778148NOD2c.795G>A (p.Ala265=)
c.876G>A (p.Ala292=)
n.936G>A
c.*1491G>A (n.*1491G>A)
n.874G>A
c.372G>A (p.Ala124=)
c.210G>A (p.Ala70=)
n.885G>A
c.303G>A (p.Ala101=)
n.838G>A
n.860G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.50710787G>CCA495778149NOD2c.795G>C (p.Ala265=)
c.876G>C (p.Ala292=)
n.936G>C
c.*1491G>C (n.*1491G>C)
n.874G>C
c.372G>C (p.Ala124=)
c.210G>C (p.Ala70=)
n.885G>C
c.303G>C (p.Ala101=)
n.838G>C
n.860G>C
16g.50710787G=CA2221859512NOD2c.795G= (p.Ala265=)
c.876G= (p.Ala292=)
n.936G=
c.*1491G= (n.*1491G=)
n.874G=
c.372G= (p.Ala124=)
c.210G= (p.Ala70=)
n.885G=
c.303G= (p.Ala101=)
n.838G=
n.860G=
16g.50710787G>TCA495778150NOD2c.795G>T (p.Ala265=)
c.876G>T (p.Ala292=)
n.936G>T
c.*1491G>T (n.*1491G>T)
n.874G>T
c.372G>T (p.Ala124=)
c.210G>T (p.Ala70=)
n.885G>T
c.303G>T (p.Ala101=)
n.838G>T
n.860G>T
16g.50710788G>ACA395867754NOD2c.796G>A (p.Asp266Asn)
c.877G>A (p.Asp293Asn)
n.937G>A
c.*1492G>A (n.*1492G>A)
n.875G>A
c.373G>A (p.Asp125Asn)
c.211G>A (p.Asp71Asn)
n.886G>A
c.304G>A (p.Asp102Asn)
n.839G>A
n.861G>A
16g.50710788G>CCA395867755NOD2c.796G>C (p.Asp266His)
c.877G>C (p.Asp293His)
n.937G>C
c.*1492G>C (n.*1492G>C)
n.875G>C
c.373G>C (p.Asp125His)
c.211G>C (p.Asp71His)
n.886G>C
c.304G>C (p.Asp102His)
n.839G>C
n.861G>C
16g.50710788G>TCA395867756NOD2c.796G>T (p.Asp266Tyr)
c.877G>T (p.Asp293Tyr)
n.937G>T
c.*1492G>T (n.*1492G>T)
n.875G>T
c.373G>T (p.Asp125Tyr)
c.211G>T (p.Asp71Tyr)
n.886G>T
c.304G>T (p.Asp102Tyr)
n.839G>T
n.861G>T
16g.50710789A>CCA395867759NOD2c.797A>C (p.Asp266Ala)
c.878A>C (p.Asp293Ala)
n.938A>C
c.*1493A>C (n.*1493A>C)
n.876A>C
c.374A>C (p.Asp125Ala)
c.212A>C (p.Asp71Ala)
n.887A>C
c.305A>C (p.Asp102Ala)
n.840A>C
n.862A>C
16g.50710789A>GCA395867757NOD2c.797A>G (p.Asp266Gly)
c.878A>G (p.Asp293Gly)
n.938A>G
c.*1493A>G (n.*1493A>G)
n.876A>G
c.374A>G (p.Asp125Gly)
c.212A>G (p.Asp71Gly)
n.887A>G
c.305A>G (p.Asp102Gly)
n.840A>G
n.862A>G
16g.50710789A>TCA395867758NOD2c.797A>T (p.Asp266Val)
c.878A>T (p.Asp293Val)
n.938A>T
c.*1493A>T (n.*1493A>T)
n.876A>T
c.374A>T (p.Asp125Val)
c.212A>T (p.Asp71Val)
n.887A>T
c.305A>T (p.Asp102Val)
n.840A>T
n.862A>T
16g.50710790C>ACA395867760NOD2c.798C>A (p.Asp266Glu)
c.879C>A (p.Asp293Glu)
n.939C>A
c.*1494C>A (n.*1494C>A)
n.877C>A
c.375C>A (p.Asp125Glu)
c.213C>A (p.Asp71Glu)
n.888C>A
c.306C>A (p.Asp102Glu)
n.841C>A
n.863C>A
16g.50710790C=CA2221859521NOD2c.798C= (p.Asp266=)
c.879C= (p.Asp293=)
n.939C=
c.*1494C= (n.*1494C=)
n.877C=
c.375C= (p.Asp125=)
c.213C= (p.Asp71=)
n.888C=
c.306C= (p.Asp102=)
n.841C=
n.863C=
16g.50710790C>GCA395867761NOD2c.798C>G (p.Asp266Glu)
c.879C>G (p.Asp293Glu)
n.939C>G
c.*1494C>G (n.*1494C>G)
n.877C>G
c.375C>G (p.Asp125Glu)
c.213C>G (p.Asp71Glu)
n.888C>G
c.306C>G (p.Asp102Glu)
n.841C>G
n.863C>G
16g.50710790C>TCA495778154NOD2c.798C>T (p.Asp266=)
c.879C>T (p.Asp293=)
n.939C>T
c.*1494C>T (n.*1494C>T)
n.877C>T
c.375C>T (p.Asp125=)
c.213C>T (p.Asp71=)
n.888C>T
c.306C>T (p.Asp102=)
n.841C>T
n.863C>T
 dbSNP gnomAD v2 gnomAD v4
16g.50710790_50710791delinsCACA2221859525NOD2c.798_799delinsCA (p.Asp266=)
c.879_880delinsCA (p.Asp293=)
n.939_940delinsCA
c.*1494_*1495delinsCA (n.*1494_*1495delinsCA)
n.877_878delinsCA
c.375_376delinsCA (p.Asp125=)
c.213_214delinsCA (p.Asp71=)
n.888_889delinsCA
c.306_307delinsCA (p.Asp102=)
n.841_842delinsCA
n.863_864delinsCA
16g.50710791delCA2221859530NOD2c.799del (p.Thr267LeufsTer?)
c.880del (p.Thr294LeufsTer?)
n.940del
c.*1495del (n.*1495del)
n.878del
c.376del (p.Thr126LeufsTer?)
c.214del (p.Thr72LeufsTer?)
n.889del
c.307del (p.Thr103LeufsTer?)
n.842del
n.864del
 dbSNP
16g.50710791A>CCA395867762NOD2c.799A>C (p.Thr267Pro)
c.880A>C (p.Thr294Pro)
n.940A>C
c.*1495A>C (n.*1495A>C)
n.878A>C
c.376A>C (p.Thr126Pro)
c.214A>C (p.Thr72Pro)
n.889A>C
c.307A>C (p.Thr103Pro)
n.842A>C
n.864A>C
16g.50710791A>GCA395867763NOD2c.799A>G (p.Thr267Ala)
c.880A>G (p.Thr294Ala)
n.940A>G
c.*1495A>G (n.*1495A>G)
n.878A>G
c.376A>G (p.Thr126Ala)
c.214A>G (p.Thr72Ala)
n.889A>G
c.307A>G (p.Thr103Ala)
n.842A>G
n.864A>G
16g.50710791A>TCA395867764NOD2c.799A>T (p.Thr267Ser)
c.880A>T (p.Thr294Ser)
n.940A>T
c.*1495A>T (n.*1495A>T)
n.878A>T
c.376A>T (p.Thr126Ser)
c.214A>T (p.Thr72Ser)
n.889A>T
c.307A>T (p.Thr103Ser)
n.842A>T
n.864A>T
16g.50710792C>ACA395867765NOD2c.800C>A (p.Thr267Asn)
c.881C>A (p.Thr294Asn)
n.941C>A
c.377C>A (p.Thr126Asn)
c.215C>A (p.Thr72Asn)
n.890C>A
c.308C>A (p.Thr103Asn)
n.843C>A
n.865C>A
 COSMIC
16g.50710792C=CA2221859541NOD2c.800C= (p.Thr267=)
c.881C= (p.Thr294=)
n.941C=
c.377C= (p.Thr126=)
c.215C= (p.Thr72=)
n.890C=
c.308C= (p.Thr103=)
n.843C=
n.865C=
16g.50710792C>GCA150348NOD2c.800C>G (p.Thr267Ser)
c.881C>G (p.Thr294Ser)
n.941C>G
c.377C>G (p.Thr126Ser)
c.215C>G (p.Thr72Ser)
n.890C>G
c.308C>G (p.Thr103Ser)
n.843C>G
n.865C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50710792C>TCA395867766NOD2c.800C>T (p.Thr267Ile)
c.881C>T (p.Thr294Ile)
n.941C>T
c.377C>T (p.Thr126Ile)
c.215C>T (p.Thr72Ile)
n.890C>T
c.308C>T (p.Thr103Ile)
n.843C>T
n.865C>T
 dbSNP gnomAD v4
16g.50710793T>ACA495778159NOD2c.801T>A (p.Thr267=)
c.882T>A (p.Thr294=)
n.942T>A
c.378T>A (p.Thr126=)
c.216T>A (p.Thr72=)
n.891T>A
c.309T>A (p.Thr103=)
n.844T>A
n.866T>A
16g.50710793T>CCA495778160NOD2c.801T>C (p.Thr267=)
c.882T>C (p.Thr294=)
n.942T>C
c.378T>C (p.Thr126=)
c.216T>C (p.Thr72=)
n.891T>C
c.309T>C (p.Thr103=)
n.844T>C
n.866T>C
16g.50710793T>GCA495778161NOD2c.801T>G (p.Thr267=)
c.882T>G (p.Thr294=)
n.942T>G
c.378T>G (p.Thr126=)
c.216T>G (p.Thr72=)
n.891T>G
c.309T>G (p.Thr103=)
n.844T>G
n.866T>G
16g.50710794G>ACA8051418NOD2c.802G>A (p.Val268Met)
c.883G>A (p.Val295Met)
n.943G>A
c.379G>A (p.Val127Met)
c.217G>A (p.Val73Met)
n.892G>A
c.310G>A (p.Val104Met)
n.845G>A
n.867G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50710794G>CCA395867767NOD2c.802G>C (p.Val268Leu)
c.883G>C (p.Val295Leu)
n.943G>C
c.379G>C (p.Val127Leu)
c.217G>C (p.Val73Leu)
n.892G>C
c.310G>C (p.Val104Leu)
n.845G>C
n.867G>C
16g.50710794G=CA2221859550NOD2c.802G= (p.Val268=)
c.883G= (p.Val295=)
n.943G=
c.379G= (p.Val127=)
c.217G= (p.Val73=)
n.892G=
c.310G= (p.Val104=)
n.845G=
n.867G=
16g.50710794G>TCA395867768NOD2c.802G>T (p.Val268Leu)
c.883G>T (p.Val295Leu)
n.943G>T
c.379G>T (p.Val127Leu)
c.217G>T (p.Val73Leu)
n.892G>T
c.310G>T (p.Val104Leu)
n.845G>T
n.867G>T
16g.50710795T>ACA395867771NOD2c.803T>A (p.Val268Glu)
c.884T>A (p.Val295Glu)
n.944T>A
c.380T>A (p.Val127Glu)
c.218T>A (p.Val73Glu)
n.893T>A
c.311T>A (p.Val104Glu)
n.846T>A
n.868T>A
16g.50710795T>CCA395867770NOD2c.803T>C (p.Val268Ala)
c.884T>C (p.Val295Ala)
n.944T>C
c.380T>C (p.Val127Ala)
c.218T>C (p.Val73Ala)
n.893T>C
c.311T>C (p.Val104Ala)
n.846T>C
n.868T>C
16g.50710795T>GCA395867769NOD2c.803T>G (p.Val268Gly)
c.884T>G (p.Val295Gly)
n.944T>G
c.380T>G (p.Val127Gly)
c.218T>G (p.Val73Gly)
n.893T>G
c.311T>G (p.Val104Gly)
n.846T>G
n.868T>G
16g.50710796G>ACA495778168NOD2c.804G>A (p.Val268=)
c.885G>A (p.Val295=)
n.945G>A
c.381G>A (p.Val127=)
c.219G>A (p.Val73=)
n.894G>A
c.312G>A (p.Val104=)
n.847G>A
n.869G>A
16g.50710796G>CCA495778169NOD2c.804G>C (p.Val268=)
c.885G>C (p.Val295=)
n.945G>C
c.381G>C (p.Val127=)
c.219G>C (p.Val73=)
n.894G>C
c.312G>C (p.Val104=)
n.847G>C
n.869G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.50710796G=CA2221859555NOD2c.804G= (p.Val268=)
c.885G= (p.Val295=)
n.945G=
c.381G= (p.Val127=)
c.219G= (p.Val73=)
n.894G=
c.312G= (p.Val104=)
n.847G=
n.869G=
16g.50710796G>TCA495778170NOD2c.804G>T (p.Val268=)
c.885G>T (p.Val295=)
n.945G>T
c.381G>T (p.Val127=)
c.219G>T (p.Val73=)
n.894G>T
c.312G>T (p.Val104=)
n.847G>T
n.869G>T
 gnomAD v4
16g.50710797C>ACA395867772NOD2c.805C>A (p.Leu269Met)
c.886C>A (p.Leu296Met)
n.946C>A
c.382C>A (p.Leu128Met)
c.220C>A (p.Leu74Met)
n.895C>A
c.313C>A (p.Leu105Met)
n.848C>A
n.870C>A
16g.50710797C>GCA395867773NOD2c.805C>G (p.Leu269Val)
c.886C>G (p.Leu296Val)
n.946C>G
c.382C>G (p.Leu128Val)
c.220C>G (p.Leu74Val)
n.895C>G
c.313C>G (p.Leu105Val)
n.848C>G
n.870C>G
16g.50710797C>TCA495778172NOD2c.805C>T (p.Leu269=)
c.886C>T (p.Leu296=)
n.946C>T
c.382C>T (p.Leu128=)
c.220C>T (p.Leu74=)
n.895C>T
c.313C>T (p.Leu105=)
n.848C>T
n.870C>T
 gnomAD v4
16g.50710798T>ACA395867774NOD2c.806T>A (p.Leu269Gln)
c.887T>A (p.Leu296Gln)
n.947T>A
c.383T>A (p.Leu128Gln)
c.221T>A (p.Leu74Gln)
n.896T>A
c.314T>A (p.Leu105Gln)
n.849T>A
n.871T>A
16g.50710798T>CCA395867775NOD2c.806T>C (p.Leu269Pro)
c.887T>C (p.Leu296Pro)
n.947T>C
c.383T>C (p.Leu128Pro)
c.221T>C (p.Leu74Pro)
n.896T>C
c.314T>C (p.Leu105Pro)
n.849T>C
n.871T>C
16g.50710798T>GCA395867776NOD2c.806T>G (p.Leu269Arg)
c.887T>G (p.Leu296Arg)
n.947T>G
c.383T>G (p.Leu128Arg)
c.221T>G (p.Leu74Arg)
n.896T>G
c.314T>G (p.Leu105Arg)
n.849T>G
n.871T>G
16g.50710799G>ACA495778176NOD2c.807G>A (p.Leu269=)
c.888G>A (p.Leu296=)
n.948G>A
c.384G>A (p.Leu128=)
c.222G>A (p.Leu74=)
n.897G>A
c.315G>A (p.Leu105=)
n.850G>A
n.872G>A
16g.50710799G>CCA281261679NOD2c.807G>C (p.Leu269=)
c.888G>C (p.Leu296=)
n.948G>C
c.384G>C (p.Leu128=)
c.222G>C (p.Leu74=)
n.897G>C
c.315G>C (p.Leu105=)
n.850G>C
n.872G>C
 ClinVar dbSNP
16g.50710799G=CA2221859561NOD2c.807G= (p.Leu269=)
c.888G= (p.Leu296=)
n.948G=
c.384G= (p.Leu128=)
c.222G= (p.Leu74=)
n.897G=
c.315G= (p.Leu105=)
n.850G=
n.872G=
16g.50710799G>TCA281261688NOD2c.807G>T (p.Leu269=)
c.888G>T (p.Leu296=)
n.948G>T
c.384G>T (p.Leu128=)
c.222G>T (p.Leu74=)
n.897G>T
c.315G>T (p.Leu105=)
n.850G>T
n.872G>T
 ClinVar dbSNP
16g.50710800G>ACA395867777NOD2c.808G>A (p.Val270Met)
c.889G>A (p.Val297Met)
n.949G>A
c.385G>A (p.Val129Met)
c.223G>A (p.Val75Met)
n.898G>A
c.316G>A (p.Val106Met)
n.851G>A
n.873G>A
16g.50710800G>CCA395867778NOD2c.808G>C (p.Val270Leu)
c.889G>C (p.Val297Leu)
n.949G>C
c.385G>C (p.Val129Leu)
c.223G>C (p.Val75Leu)
n.898G>C
c.316G>C (p.Val106Leu)
n.851G>C
n.873G>C
 gnomAD v4
16g.50710800G>TCA395867779NOD2c.808G>T (p.Val270Leu)
c.889G>T (p.Val297Leu)
n.949G>T
c.385G>T (p.Val129Leu)
c.223G>T (p.Val75Leu)
n.898G>T
c.316G>T (p.Val106Leu)
n.851G>T
n.873G>T
16g.50710801_50710802delCA2807002537NOD2c.809_810del (p.Val270GlyfsTer3)
c.890_891del (p.Val297GlyfsTer3)
n.950_951del
c.386_387del (p.Val129GlyfsTer3)
c.224_225del (p.Val75GlyfsTer3)
n.899_900del
c.317_318del (p.Val106GlyfsTer3)
n.852_853del
n.874_875del
16g.50710801T>ACA395867780NOD2c.809T>A (p.Val270Glu)
c.890T>A (p.Val297Glu)
n.950T>A
c.386T>A (p.Val129Glu)
c.224T>A (p.Val75Glu)
n.899T>A
c.317T>A (p.Val106Glu)
n.852T>A
n.874T>A
16g.50710801T>CCA395867781NOD2c.809T>C (p.Val270Ala)
c.890T>C (p.Val297Ala)
n.950T>C
c.386T>C (p.Val129Ala)
c.224T>C (p.Val75Ala)
n.899T>C
c.317T>C (p.Val106Ala)
n.852T>C
n.874T>C
 gnomAD v4
16g.50710801T>GCA395867782NOD2c.809T>G (p.Val270Gly)
c.890T>G (p.Val297Gly)
n.950T>G
c.386T>G (p.Val129Gly)
c.224T>G (p.Val75Gly)
n.899T>G
c.317T>G (p.Val106Gly)
n.852T>G
n.874T>G
16g.50710801dupCA2740093323NOD2c.809dup (p.Val271GlyfsTer3)
c.890dup (p.Val298GlyfsTer3)
n.950dup
c.386dup (p.Val130GlyfsTer3)
c.224dup (p.Val76GlyfsTer3)
n.899dup
c.317dup (p.Val107GlyfsTer3)
n.852dup
n.874dup
 ClinVar
16g.50710802G>ACA495778180NOD2c.810G>A (p.Val270=)
c.891G>A (p.Val297=)
n.951G>A
c.387G>A (p.Val129=)
c.225G>A (p.Val75=)
n.900G>A
c.318G>A (p.Val106=)
n.853G>A
n.875G>A
16g.50710802G>CCA495778182NOD2c.810G>C (p.Val270=)
c.891G>C (p.Val297=)
n.951G>C
c.387G>C (p.Val129=)
c.225G>C (p.Val75=)
n.900G>C
c.318G>C (p.Val106=)
n.853G>C
n.875G>C
 gnomAD v4
16g.50710802G>TCA495778183NOD2c.810G>T (p.Val270=)
c.891G>T (p.Val297=)
n.951G>T
c.387G>T (p.Val129=)
c.225G>T (p.Val75=)
n.900G>T
c.318G>T (p.Val106=)
n.853G>T
n.875G>T
16g.50710803G>ACA395867785NOD2c.811G>A (p.Val271Met)
c.892G>A (p.Val298Met)
n.952G>A
c.388G>A (p.Val130Met)
c.226G>A (p.Val76Met)
n.901G>A
c.319G>A (p.Val107Met)
n.854G>A
n.876G>A
 gnomAD v4
16g.50710803G>CCA395867784NOD2c.811G>C (p.Val271Leu)
c.892G>C (p.Val298Leu)
n.952G>C
c.388G>C (p.Val130Leu)
c.226G>C (p.Val76Leu)
n.901G>C
c.319G>C (p.Val107Leu)
n.854G>C
n.876G>C
16g.50710803G>TCA395867783NOD2c.811G>T (p.Val271Leu)
c.892G>T (p.Val298Leu)
n.952G>T
c.388G>T (p.Val130Leu)
c.226G>T (p.Val76Leu)
n.901G>T
c.319G>T (p.Val107Leu)
n.854G>T
n.876G>T
16g.50710804T>ACA395867786NOD2c.812T>A (p.Val271Glu)
c.893T>A (p.Val298Glu)
n.953T>A
c.389T>A (p.Val130Glu)
c.227T>A (p.Val76Glu)
n.902T>A
c.320T>A (p.Val107Glu)
n.855T>A
n.877T>A
16g.50710804T>CCA395867787NOD2c.812T>C (p.Val271Ala)
c.893T>C (p.Val298Ala)
n.953T>C
c.389T>C (p.Val130Ala)
c.227T>C (p.Val76Ala)
n.902T>C
c.320T>C (p.Val107Ala)
n.855T>C
n.877T>C
 gnomAD v4
16g.50710804T>GCA395867788NOD2c.812T>G (p.Val271Gly)
c.893T>G (p.Val298Gly)
n.953T>G
c.389T>G (p.Val130Gly)
c.227T>G (p.Val76Gly)
n.902T>G
c.320T>G (p.Val107Gly)
n.855T>G
n.877T>G
16g.50710805G>ACA8051419NOD2c.813G>A (p.Val271=)
c.894G>A (p.Val298=)
n.954G>A
c.390G>A (p.Val130=)
c.228G>A (p.Val76=)
n.903G>A
c.321G>A (p.Val107=)
n.856G>A
n.878G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50710805G>CCA495778185NOD2c.813G>C (p.Val271=)
c.894G>C (p.Val298=)
n.954G>C
c.390G>C (p.Val130=)
c.228G>C (p.Val76=)
n.903G>C
c.321G>C (p.Val107=)
n.856G>C
n.878G>C
16g.50710805G=CA2221859564NOD2c.813G= (p.Val271=)
c.894G= (p.Val298=)
n.954G=
c.390G= (p.Val130=)
c.228G= (p.Val76=)
n.903G=
c.321G= (p.Val107=)
n.856G=
n.878G=
16g.50710805G>TCA495778184NOD2c.813G>T (p.Val271=)
c.894G>T (p.Val298=)
n.954G>T
c.390G>T (p.Val130=)
c.228G>T (p.Val76=)
n.903G>T
c.321G>T (p.Val107=)
n.856G>T
n.878G>T
16g.50710806G>ACA395867789NOD2c.814G>A (p.Gly272Ser)
c.895G>A (p.Gly299Ser)
n.955G>A
c.391G>A (p.Gly131Ser)
c.229G>A (p.Gly77Ser)
n.904G>A
c.322G>A (p.Gly108Ser)
n.857G>A
n.879G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.50710806G>CCA395867790NOD2c.814G>C (p.Gly272Arg)
c.895G>C (p.Gly299Arg)
n.955G>C
c.391G>C (p.Gly131Arg)
c.229G>C (p.Gly77Arg)
n.904G>C
c.322G>C (p.Gly108Arg)
n.857G>C
n.879G>C
16g.50710806G=CA2221859566NOD2c.814G= (p.Gly272=)
c.895G= (p.Gly299=)
n.955G=
c.391G= (p.Gly131=)
c.229G= (p.Gly77=)
n.904G=
c.322G= (p.Gly108=)
n.857G=
n.879G=
16g.50710806G>TCA395867791NOD2c.814G>T (p.Gly272Cys)
c.895G>T (p.Gly299Cys)
n.955G>T
c.391G>T (p.Gly131Cys)
c.229G>T (p.Gly77Cys)
n.904G>T
c.322G>T (p.Gly108Cys)
n.857G>T
n.879G>T
16g.50710807G>ACA8051420NOD2c.815G>A (p.Gly272Asp)
c.896G>A (p.Gly299Asp)
n.956G>A
c.392G>A (p.Gly131Asp)
c.230G>A (p.Gly77Asp)
n.905G>A
c.323G>A (p.Gly108Asp)
n.858G>A
n.880G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50710807G>CCA395867792NOD2c.815G>C (p.Gly272Ala)
c.896G>C (p.Gly299Ala)
n.956G>C
c.392G>C (p.Gly131Ala)
c.230G>C (p.Gly77Ala)
n.905G>C
c.323G>C (p.Gly108Ala)
n.858G>C
n.880G>C
16g.50710807G=CA2221859571NOD2c.815G= (p.Gly272=)
c.896G= (p.Gly299=)
n.956G=
c.392G= (p.Gly131=)
c.230G= (p.Gly77=)
n.905G=
c.323G= (p.Gly108=)
n.858G=
n.880G=
16g.50710807G>TCA395867793NOD2c.815G>T (p.Gly272Val)
c.896G>T (p.Gly299Val)
n.956G>T
c.392G>T (p.Gly131Val)
c.230G>T (p.Gly77Val)
n.905G>T
c.323G>T (p.Gly108Val)
n.858G>T
n.880G>T
16g.50710808T>ACA495778190NOD2c.816T>A (p.Gly272=)
c.897T>A (p.Gly299=)
n.957T>A
c.393T>A (p.Gly131=)
c.231T>A (p.Gly77=)
n.906T>A
c.324T>A (p.Gly108=)
n.859T>A
n.881T>A
16g.50710808T>CCA495778189NOD2c.816T>C (p.Gly272=)
c.897T>C (p.Gly299=)
n.957T>C
c.393T>C (p.Gly131=)
c.231T>C (p.Gly77=)
n.906T>C
c.324T>C (p.Gly108=)
n.859T>C
n.881T>C
16g.50710808T>GCA495778188NOD2c.816T>G (p.Gly272=)
c.897T>G (p.Gly299=)
n.957T>G
c.393T>G (p.Gly131=)
c.231T>G (p.Gly77=)
n.906T>G
c.324T>G (p.Gly108=)
n.859T>G
n.881T>G
16g.50710808_50710809insTTCA2807002541NOD2c.816_817insTT (p.Glu273LeufsTer?)
c.897_898insTT (p.Glu300LeufsTer?)
n.957_958insTT
c.393_394insTT (p.Glu132LeufsTer?)
c.231_232insTT (p.Glu78LeufsTer?)
n.906_907insTT
c.324_325insTT (p.Glu109LeufsTer?)
n.859_860insTT
n.881_882insTT
16g.50710809G>ACA395867794NOD2c.817G>A (p.Glu273Lys)
c.898G>A (p.Glu300Lys)
n.958G>A
c.394G>A (p.Glu132Lys)
c.232G>A (p.Glu78Lys)
n.907G>A
c.325G>A (p.Glu109Lys)
n.860G>A
n.882G>A
16g.50710809G>CCA395867795NOD2c.817G>C (p.Glu273Gln)
c.898G>C (p.Glu300Gln)
n.958G>C
c.394G>C (p.Glu132Gln)
c.232G>C (p.Glu78Gln)
n.907G>C
c.325G>C (p.Glu109Gln)
n.860G>C
n.882G>C
16g.50710809G=CA2221859576NOD2c.817G= (p.Glu273=)
c.898G= (p.Glu300=)
n.958G=
c.394G= (p.Glu132=)
c.232G= (p.Glu78=)
n.907G=
c.325G= (p.Glu109=)
n.860G=
n.882G=
16g.50710809G>TCA395867796NOD2c.817G>T (p.Glu273Ter)
c.898G>T (p.Glu300Ter)
n.958G>T
c.394G>T (p.Glu132Ter)
c.232G>T (p.Glu78Ter)
n.907G>T
c.325G>T (p.Glu109Ter)
n.860G>T
n.882G>T
 ClinVar dbSNP gnomAD v2
16g.50710810A>CCA395867798NOD2c.818A>C (p.Glu273Ala)
c.899A>C (p.Glu300Ala)
n.959A>C
c.395A>C (p.Glu132Ala)
c.233A>C (p.Glu78Ala)
n.908A>C
c.326A>C (p.Glu109Ala)
n.861A>C
n.883A>C
16g.50710810A>GCA395867799NOD2c.818A>G (p.Glu273Gly)
c.899A>G (p.Glu300Gly)
n.959A>G
c.395A>G (p.Glu132Gly)
c.233A>G (p.Glu78Gly)
n.908A>G
c.326A>G (p.Glu109Gly)
n.861A>G
n.883A>G
16g.50710810A>TCA395867797NOD2c.818A>T (p.Glu273Val)
c.899A>T (p.Glu300Val)
n.959A>T
c.395A>T (p.Glu132Val)
c.233A>T (p.Glu78Val)
n.908A>T
c.326A>T (p.Glu109Val)
n.861A>T
n.883A>T
16g.50710811G>ACA495778192NOD2c.819G>A (p.Glu273=)
c.900G>A (p.Glu300=)
n.960G>A
c.396G>A (p.Glu132=)
c.234G>A (p.Glu78=)
n.909G>A
c.327G>A (p.Glu109=)
n.862G>A
n.884G>A
 gnomAD v4
16g.50710811G>CCA395867801NOD2c.819G>C (p.Glu273Asp)
c.900G>C (p.Glu300Asp)
n.960G>C
c.396G>C (p.Glu132Asp)
c.234G>C (p.Glu78Asp)
n.909G>C
c.327G>C (p.Glu109Asp)
n.862G>C
n.884G>C
16g.50710811G>TCA395867800NOD2c.819G>T (p.Glu273Asp)
c.900G>T (p.Glu300Asp)
n.960G>T
c.396G>T (p.Glu132Asp)
c.234G>T (p.Glu78Asp)
n.909G>T
c.327G>T (p.Glu109Asp)
n.862G>T
n.884G>T
16g.50710812G>ACA395867802NOD2c.820G>A (p.Ala274Thr)
c.901G>A (p.Ala301Thr)
n.961G>A
c.397G>A (p.Ala133Thr)
c.235G>A (p.Ala79Thr)
n.910G>A
c.328G>A (p.Ala110Thr)
n.863G>A
n.885G>A
 dbSNP gnomAD v2 gnomAD v4
16g.50710812G>CCA395867803NOD2c.820G>C (p.Ala274Pro)
c.901G>C (p.Ala301Pro)
n.961G>C
c.397G>C (p.Ala133Pro)
c.235G>C (p.Ala79Pro)
n.910G>C
c.328G>C (p.Ala110Pro)
n.863G>C
n.885G>C
16g.50710812G=CA2221859582NOD2c.820G= (p.Ala274=)
c.901G= (p.Ala301=)
n.961G=
c.397G= (p.Ala133=)
c.235G= (p.Ala79=)
n.910G=
c.328G= (p.Ala110=)
n.863G=
n.885G=
16g.50710812G>TCA395867804NOD2c.820G>T (p.Ala274Ser)
c.901G>T (p.Ala301Ser)
n.961G>T
c.397G>T (p.Ala133Ser)
c.235G>T (p.Ala79Ser)
n.910G>T
c.328G>T (p.Ala110Ser)
n.863G>T
n.885G>T
 dbSNP gnomAD v2 gnomAD v4
16g.50710813C>ACA395867805NOD2c.821C>A (p.Ala274Glu)
c.902C>A (p.Ala301Glu)
n.962C>A
c.398C>A (p.Ala133Glu)
c.236C>A (p.Ala79Glu)
n.911C>A
c.329C>A (p.Ala110Glu)
n.864C>A
n.886C>A
16g.50710813C=CA2221859599NOD2c.821C= (p.Ala274=)
c.902C= (p.Ala301=)
n.962C=
c.398C= (p.Ala133=)
c.236C= (p.Ala79=)
n.911C=
c.329C= (p.Ala110=)
n.864C=
n.886C=
16g.50710813C>GCA395867806NOD2c.821C>G (p.Ala274Gly)
c.902C>G (p.Ala301Gly)
n.962C>G
c.398C>G (p.Ala133Gly)
c.236C>G (p.Ala79Gly)
n.911C>G
c.329C>G (p.Ala110Gly)
n.864C>G
n.886C>G
16g.50710813C>TCA150351NOD2c.821C>T (p.Ala274Val)
c.902C>T (p.Ala301Val)
n.962C>T
c.398C>T (p.Ala133Val)
c.236C>T (p.Ala79Val)
n.911C>T
c.329C>T (p.Ala110Val)
n.864C>T
n.886C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50710814G>ACA8051421NOD2c.822G>A (p.Ala274=)
c.903G>A (p.Ala301=)
n.963G>A
c.399G>A (p.Ala133=)
c.237G>A (p.Ala79=)
n.912G>A
c.330G>A (p.Ala110=)
n.865G>A
n.887G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.50710814G>CCA495778195NOD2c.822G>C (p.Ala274=)
c.903G>C (p.Ala301=)
n.963G>C
c.399G>C (p.Ala133=)
c.237G>C (p.Ala79=)
n.912G>C
c.330G>C (p.Ala110=)
n.865G>C
n.887G>C
16g.50710814G=CA2221859608NOD2c.822G= (p.Ala274=)
c.903G= (p.Ala301=)
n.963G=
c.399G= (p.Ala133=)
c.237G= (p.Ala79=)
n.912G=
c.330G= (p.Ala110=)
n.865G=
n.887G=
16g.50710814G>TCA495778196NOD2c.822G>T (p.Ala274=)
c.903G>T (p.Ala301=)
n.963G>T
c.399G>T (p.Ala133=)
c.237G>T (p.Ala79=)
n.912G>T
c.330G>T (p.Ala110=)
n.865G>T
n.887G>T
16g.50710816delCA2573152310NOD2c.824del (p.Gly275AlafsTer?)
c.905del (p.Gly302AlafsTer?)
n.965del
c.401del (p.Gly134AlafsTer?)
c.239del (p.Gly80AlafsTer?)
n.914del
c.332del (p.Gly111AlafsTer?)
n.867del
n.889del
 ClinVar dbSNP gnomAD v4
16g.50710815G>ACA395867807NOD2c.823G>A (p.Gly275Ser)
c.904G>A (p.Gly302Ser)
n.964G>A
c.400G>A (p.Gly134Ser)
c.238G>A (p.Gly80Ser)
n.913G>A
c.331G>A (p.Gly111Ser)
n.866G>A
n.888G>A
16g.50710815G>CCA395867808NOD2c.823G>C (p.Gly275Arg)
c.904G>C (p.Gly302Arg)
n.964G>C
c.400G>C (p.Gly134Arg)
c.238G>C (p.Gly80Arg)
n.913G>C
c.331G>C (p.Gly111Arg)
n.866G>C
n.888G>C
16g.50710815G>TCA395867809NOD2c.823G>T (p.Gly275Cys)
c.904G>T (p.Gly302Cys)
n.964G>T
c.400G>T (p.Gly134Cys)
c.238G>T (p.Gly80Cys)
n.913G>T
c.331G>T (p.Gly111Cys)
n.866G>T
n.888G>T
16g.50710816G>ACA395867810NOD2c.824G>A (p.Gly275Asp)
c.905G>A (p.Gly302Asp)
n.965G>A
c.401G>A (p.Gly134Asp)
c.239G>A (p.Gly80Asp)
n.914G>A
c.332G>A (p.Gly111Asp)
n.867G>A
n.889G>A
 gnomAD v4
16g.50710816G>CCA395867811NOD2c.824G>C (p.Gly275Ala)
c.905G>C (p.Gly302Ala)
n.965G>C
c.401G>C (p.Gly134Ala)
c.239G>C (p.Gly80Ala)
n.914G>C
c.332G>C (p.Gly111Ala)
n.867G>C
n.889G>C
16g.50710816G>TCA395867812NOD2c.824G>T (p.Gly275Val)
c.905G>T (p.Gly302Val)
n.965G>T
c.401G>T (p.Gly134Val)
c.239G>T (p.Gly80Val)
n.914G>T
c.332G>T (p.Gly111Val)
n.867G>T
n.889G>T
16g.50710817C>ACA495778197NOD2c.825C>A (p.Gly275=)
c.906C>A (p.Gly302=)
n.966C>A
c.402C>A (p.Gly134=)
c.240C>A (p.Gly80=)
n.915C>A
c.333C>A (p.Gly111=)
n.868C>A
n.890C>A
16g.50710817C>GCA495778198NOD2c.825C>G (p.Gly275=)
c.906C>G (p.Gly302=)
n.966C>G
c.402C>G (p.Gly134=)
c.240C>G (p.Gly80=)
n.915C>G
c.333C>G (p.Gly111=)
n.868C>G
n.890C>G
16g.50710817C>TCA495778199NOD2c.825C>T (p.Gly275=)
c.906C>T (p.Gly302=)
n.966C>T
c.402C>T (p.Gly134=)
c.240C>T (p.Gly80=)
n.915C>T
c.333C>T (p.Gly111=)
n.868C>T
n.890C>T
 gnomAD v4
16g.50710818A>CCA395867813NOD2c.826A>C (p.Ser276Arg)
c.907A>C (p.Ser303Arg)
n.967A>C
c.403A>C (p.Ser135Arg)
c.241A>C (p.Ser81Arg)
n.916A>C
c.334A>C (p.Ser112Arg)
n.869A>C
n.891A>C
16g.50710818A>GCA395867815NOD2c.826A>G (p.Ser276Gly)
c.907A>G (p.Ser303Gly)
n.967A>G
c.403A>G (p.Ser135Gly)
c.241A>G (p.Ser81Gly)
n.916A>G
c.334A>G (p.Ser112Gly)
n.869A>G
n.891A>G
16g.50710818A>TCA395867814NOD2c.826A>T (p.Ser276Cys)
c.907A>T (p.Ser303Cys)
n.967A>T
c.403A>T (p.Ser135Cys)
c.241A>T (p.Ser81Cys)
n.916A>T
c.334A>T (p.Ser112Cys)
n.869A>T
n.891A>T
16g.50710819G>ACA395867816NOD2c.827G>A (p.Ser276Asn)
c.908G>A (p.Ser303Asn)
n.968G>A
c.404G>A (p.Ser135Asn)
c.242G>A (p.Ser81Asn)
n.917G>A
c.335G>A (p.Ser112Asn)
n.870G>A
n.892G>A
 gnomAD v4
16g.50710819G>CCA395867817NOD2c.827G>C (p.Ser276Thr)
c.908G>C (p.Ser303Thr)
n.968G>C
c.404G>C (p.Ser135Thr)
c.242G>C (p.Ser81Thr)
n.917G>C
c.335G>C (p.Ser112Thr)
n.870G>C
n.892G>C
16g.50710819G>TCA395867818NOD2c.827G>T (p.Ser276Ile)
c.908G>T (p.Ser303Ile)
n.968G>T
c.404G>T (p.Ser135Ile)
c.242G>T (p.Ser81Ile)
n.917G>T
c.335G>T (p.Ser112Ile)
n.870G>T
n.892G>T
16g.50710820T>ACA395867819NOD2c.828T>A (p.Ser276Arg)
c.909T>A (p.Ser303Arg)
n.969T>A
c.405T>A (p.Ser135Arg)
c.243T>A (p.Ser81Arg)
n.918T>A
c.336T>A (p.Ser112Arg)
n.871T>A
n.893T>A
16g.50710820T>CCA495778203NOD2c.828T>C (p.Ser276=)
c.909T>C (p.Ser303=)
n.969T>C
c.405T>C (p.Ser135=)
c.243T>C (p.Ser81=)
n.918T>C
c.336T>C (p.Ser112=)
n.871T>C
n.893T>C
16g.50710820T>GCA395867820NOD2c.828T>G (p.Ser276Arg)
c.909T>G (p.Ser303Arg)
n.969T>G
c.405T>G (p.Ser135Arg)
c.243T>G (p.Ser81Arg)
n.918T>G
c.336T>G (p.Ser112Arg)
n.871T>G
n.893T>G
16g.50710821G>ACA395867821NOD2c.829G>A (p.Gly277Ser)
c.910G>A (p.Gly304Ser)
n.970G>A
c.406G>A (p.Gly136Ser)
c.244G>A (p.Gly82Ser)
n.919G>A
c.337G>A (p.Gly113Ser)
n.872G>A
n.894G>A
16g.50710821G>CCA395867822NOD2c.829G>C (p.Gly277Arg)
c.910G>C (p.Gly304Arg)
n.970G>C
c.406G>C (p.Gly136Arg)
c.244G>C (p.Gly82Arg)
n.919G>C
c.337G>C (p.Gly113Arg)
n.872G>C
n.894G>C
16g.50710821G>TCA395867823NOD2c.829G>T (p.Gly277Cys)
c.910G>T (p.Gly304Cys)
n.970G>T
c.406G>T (p.Gly136Cys)
c.244G>T (p.Gly82Cys)
n.919G>T
c.337G>T (p.Gly113Cys)
n.872G>T
n.894G>T
16g.50710822G>ACA395867824NOD2c.830G>A (p.Gly277Asp)
c.911G>A (p.Gly304Asp)
n.971G>A
c.407G>A (p.Gly136Asp)
c.245G>A (p.Gly82Asp)
n.920G>A
c.338G>A (p.Gly113Asp)
n.873G>A
n.895G>A
16g.50710822G>CCA395867825NOD2c.830G>C (p.Gly277Ala)
c.911G>C (p.Gly304Ala)
n.971G>C
c.407G>C (p.Gly136Ala)
c.245G>C (p.Gly82Ala)
n.920G>C
c.338G>C (p.Gly113Ala)
n.873G>C
n.895G>C
16g.50710822G>TCA395867826NOD2c.830G>T (p.Gly277Val)
c.911G>T (p.Gly304Val)
n.971G>T
c.407G>T (p.Gly136Val)
c.245G>T (p.Gly82Val)
n.920G>T
c.338G>T (p.Gly113Val)
n.873G>T
n.895G>T
16g.50710823C>ACA495778207NOD2c.831C>A (p.Gly277=)
c.912C>A (p.Gly304=)
n.972C>A
c.408C>A (p.Gly136=)
c.246C>A (p.Gly82=)
n.921C>A
c.339C>A (p.Gly113=)
n.874C>A
n.896C>A
 COSMIC
16g.50710823C>GCA495778208NOD2c.831C>G (p.Gly277=)
c.912C>G (p.Gly304=)
n.972C>G
c.408C>G (p.Gly136=)
c.246C>G (p.Gly82=)
n.921C>G
c.339C>G (p.Gly113=)
n.874C>G
n.896C>G
16g.50710823C>TCA495778211NOD2c.831C>T (p.Gly277=)
c.912C>T (p.Gly304=)
n.972C>T
c.408C>T (p.Gly136=)
c.246C>T (p.Gly82=)
n.921C>T
c.339C>T (p.Gly113=)
n.874C>T
n.896C>T
16g.50710824A>CCA395867829NOD2c.832A>C (p.Lys278Gln)
c.913A>C (p.Lys305Gln)
n.973A>C
c.409A>C (p.Lys137Gln)
c.247A>C (p.Lys83Gln)
n.922A>C
c.340A>C (p.Lys114Gln)
n.875A>C
n.897A>C
16g.50710824A>GCA395867828NOD2c.832A>G (p.Lys278Glu)
c.913A>G (p.Lys305Glu)
n.973A>G
c.409A>G (p.Lys137Glu)
c.247A>G (p.Lys83Glu)
n.922A>G
c.340A>G (p.Lys114Glu)
n.875A>G
n.897A>G
16g.50710824A>TCA395867827NOD2c.832A>T (p.Lys278Ter)
c.913A>T (p.Lys305Ter)
n.973A>T
c.409A>T (p.Lys137Ter)
c.247A>T (p.Lys83Ter)
n.922A>T
c.340A>T (p.Lys114Ter)
n.875A>T
n.897A>T
16g.50710825A>CCA395867830NOD2c.833A>C (p.Lys278Thr)
c.914A>C (p.Lys305Thr)
n.974A>C
c.410A>C (p.Lys137Thr)
c.248A>C (p.Lys83Thr)
n.923A>C
c.341A>C (p.Lys114Thr)
n.876A>C
n.898A>C
16g.50710825A>GCA395867832NOD2c.833A>G (p.Lys278Arg)
c.914A>G (p.Lys305Arg)
n.974A>G
c.410A>G (p.Lys137Arg)
c.248A>G (p.Lys83Arg)
n.923A>G
c.341A>G (p.Lys114Arg)
n.876A>G
n.898A>G
16g.50710825A>TCA395867831NOD2c.833A>T (p.Lys278Met)
c.914A>T (p.Lys305Met)
n.974A>T
c.410A>T (p.Lys137Met)
c.248A>T (p.Lys83Met)
n.923A>T
c.341A>T (p.Lys114Met)
n.876A>T
n.898A>T
16g.50710826G>ACA8051422NOD2c.834G>A (p.Lys278=)
c.915G>A (p.Lys305=)
n.975G>A
c.411G>A (p.Lys137=)
c.249G>A (p.Lys83=)
n.924G>A
c.342G>A (p.Lys114=)
n.877G>A
n.899G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.50710826G>CCA395867833NOD2c.834G>C (p.Lys278Asn)
c.915G>C (p.Lys305Asn)
n.975G>C
c.411G>C (p.Lys137Asn)
c.249G>C (p.Lys83Asn)
n.924G>C
c.342G>C (p.Lys114Asn)
n.877G>C
n.899G>C
16g.50710826G=CA2221859619NOD2c.834G= (p.Lys278=)
c.915G= (p.Lys305=)
n.975G=
c.411G= (p.Lys137=)
c.249G= (p.Lys83=)
n.924G=
c.342G= (p.Lys114=)
n.877G=
n.899G=
16g.50710826G>TCA395867834NOD2c.834G>T (p.Lys278Asn)
c.915G>T (p.Lys305Asn)
n.975G>T
c.411G>T (p.Lys137Asn)
c.249G>T (p.Lys83Asn)
n.924G>T
c.342G>T (p.Lys114Asn)
n.877G>T
n.899G>T
16g.50710827A=CA2221859626NOD2c.835A= (p.Ser279=)
c.916A= (p.Ser306=)
n.976A=
c.412A= (p.Ser138=)
c.250A= (p.Ser84=)
n.925A=
c.343A= (p.Ser115=)
n.878A=
n.900A=
16g.50710827A>CCA395867835NOD2c.835A>C (p.Ser279Arg)
c.916A>C (p.Ser306Arg)
n.976A>C
c.412A>C (p.Ser138Arg)
c.250A>C (p.Ser84Arg)
n.925A>C
c.343A>C (p.Ser115Arg)
n.878A>C
n.900A>C
 dbSNP
16g.50710827A>GCA395867836NOD2c.835A>G (p.Ser279Gly)
c.916A>G (p.Ser306Gly)
n.976A>G
c.412A>G (p.Ser138Gly)
c.250A>G (p.Ser84Gly)
n.925A>G
c.343A>G (p.Ser115Gly)
n.878A>G
n.900A>G
16g.50710827A>TCA395867837NOD2c.835A>T (p.Ser279Cys)
c.916A>T (p.Ser306Cys)
n.976A>T
c.412A>T (p.Ser138Cys)
c.250A>T (p.Ser84Cys)
n.925A>T
c.343A>T (p.Ser115Cys)
n.878A>T
n.900A>T
16g.50710828G>ACA395867839NOD2c.836G>A (p.Ser279Asn)
c.917G>A (p.Ser306Asn)
n.977G>A
c.413G>A (p.Ser138Asn)
c.251G>A (p.Ser84Asn)
n.926G>A
c.344G>A (p.Ser115Asn)
n.879G>A
n.901G>A
 dbSNP gnomAD v2 gnomAD v4
16g.50710828G>CCA395867840NOD2c.836G>C (p.Ser279Thr)
c.917G>C (p.Ser306Thr)
n.977G>C
c.413G>C (p.Ser138Thr)
c.251G>C (p.Ser84Thr)
n.926G>C
c.344G>C (p.Ser115Thr)
n.879G>C
n.901G>C
16g.50710828G=CA2221859631NOD2c.836G= (p.Ser279=)
c.917G= (p.Ser306=)
n.977G=
c.413G= (p.Ser138=)
c.251G= (p.Ser84=)
n.926G=
c.344G= (p.Ser115=)
n.879G=
n.901G=
16g.50710828G>TCA395867841NOD2c.836G>T (p.Ser279Ile)
c.917G>T (p.Ser306Ile)
n.977G>T
c.413G>T (p.Ser138Ile)
c.251G>T (p.Ser84Ile)
n.926G>T
c.344G>T (p.Ser115Ile)
n.879G>T
n.901G>T
 gnomAD v4
16g.50710829C>ACA395867842NOD2c.837C>A (p.Ser279Arg)
c.918C>A (p.Ser306Arg)
n.978C>A
c.414C>A (p.Ser138Arg)
c.252C>A (p.Ser84Arg)
n.927C>A
c.345C>A (p.Ser115Arg)
n.880C>A
n.902C>A
16g.50710829C>GCA395867843NOD2c.837C>G (p.Ser279Arg)
c.918C>G (p.Ser306Arg)
n.978C>G
c.414C>G (p.Ser138Arg)
c.252C>G (p.Ser84Arg)
n.927C>G
c.345C>G (p.Ser115Arg)
n.880C>G
n.902C>G
16g.50710829C>TCA495778218NOD2c.837C>T (p.Ser279=)
c.918C>T (p.Ser306=)
n.978C>T
c.414C>T (p.Ser138=)
c.252C>T (p.Ser84=)
n.927C>T
c.345C>T (p.Ser115=)
n.880C>T
n.902C>T
 gnomAD v4
16g.50710830A=CA2221859635NOD2c.838A= (p.Thr280=)
c.919A= (p.Thr307=)
n.979A=
c.415A= (p.Thr139=)
c.253A= (p.Thr85=)
n.928A=
c.346A= (p.Thr116=)
n.881A=
n.903A=
16g.50710830A>CCA395867846NOD2c.838A>C (p.Thr280Pro)
c.919A>C (p.Thr307Pro)
n.979A>C
c.415A>C (p.Thr139Pro)
c.253A>C (p.Thr85Pro)
n.928A>C
c.346A>C (p.Thr116Pro)
n.881A>C
n.903A>C
 gnomAD v4
16g.50710830A>GCA395867845NOD2c.838A>G (p.Thr280Ala)
c.919A>G (p.Thr307Ala)
n.979A>G
c.415A>G (p.Thr139Ala)
c.253A>G (p.Thr85Ala)
n.928A>G
c.346A>G (p.Thr116Ala)
n.881A>G
n.903A>G
16g.50710830A>TCA395867844NOD2c.838A>T (p.Thr280Ser)
c.919A>T (p.Thr307Ser)
n.979A>T
c.415A>T (p.Thr139Ser)
c.253A>T (p.Thr85Ser)
n.928A>T
c.346A>T (p.Thr116Ser)
n.881A>T
n.903A>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.50710831C>ACA395867847NOD2c.839C>A (p.Thr280Lys)
c.920C>A (p.Thr307Lys)
n.980C>A
c.416C>A (p.Thr139Lys)
c.254C>A (p.Thr85Lys)
n.929C>A
c.347C>A (p.Thr116Lys)
n.882C>A
n.904C>A
16g.50710831C=CA2221859647NOD2c.839C= (p.Thr280=)
c.920C= (p.Thr307=)
n.980C=
c.416C= (p.Thr139=)
c.254C= (p.Thr85=)
n.929C=
c.347C= (p.Thr116=)
n.882C=
n.904C=
16g.50710831C>GCA395867848NOD2c.839C>G (p.Thr280Arg)
c.920C>G (p.Thr307Arg)
n.980C>G
c.416C>G (p.Thr139Arg)
c.254C>G (p.Thr85Arg)
n.929C>G
c.347C>G (p.Thr116Arg)
n.882C>G
n.904C>G
16g.50710831C>TCA8051423NOD2c.839C>T (p.Thr280Met)
c.920C>T (p.Thr307Met)
n.980C>T
c.416C>T (p.Thr139Met)
c.254C>T (p.Thr85Met)
n.929C>T
c.347C>T (p.Thr116Met)
n.882C>T
n.904C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50710832G>ACA8051424NOD2c.840G>A (p.Thr280=)
c.921G>A (p.Thr307=)
n.981G>A
c.417G>A (p.Thr139=)
c.255G>A (p.Thr85=)
n.930G>A
c.348G>A (p.Thr116=)
n.883G>A
n.905G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50710832G>CCA495778222NOD2c.840G>C (p.Thr280=)
c.921G>C (p.Thr307=)
n.981G>C
c.417G>C (p.Thr139=)
c.255G>C (p.Thr85=)
n.930G>C
c.348G>C (p.Thr116=)
n.883G>C
n.905G>C
 gnomAD v4
16g.50710832G=CA2221859654NOD2c.840G= (p.Thr280=)
c.921G= (p.Thr307=)
n.981G=
c.417G= (p.Thr139=)
c.255G= (p.Thr85=)
n.930G=
c.348G= (p.Thr116=)
n.883G=
n.905G=
16g.50710832G>TCA495778221NOD2c.840G>T (p.Thr280=)
c.921G>T (p.Thr307=)
n.981G>T
c.417G>T (p.Thr139=)
c.255G>T (p.Thr85=)
n.930G>T
c.348G>T (p.Thr116=)
n.883G>T
n.905G>T
 COSMIC
16g.50710833C>ACA395867849NOD2c.841C>A (p.Leu281Ile)
c.922C>A (p.Leu308Ile)
n.982C>A
c.418C>A (p.Leu140Ile)
c.256C>A (p.Leu86Ile)
n.931C>A
c.349C>A (p.Leu117Ile)
n.884C>A
n.906C>A
16g.50710833C=CA2221859671NOD2c.841C= (p.Leu281=)
c.922C= (p.Leu308=)
n.982C=
c.418C= (p.Leu140=)
c.256C= (p.Leu86=)
n.931C=
c.349C= (p.Leu117=)
n.884C=
n.906C=
16g.50710833C>GCA395867850NOD2c.841C>G (p.Leu281Val)
c.922C>G (p.Leu308Val)
n.982C>G
c.418C>G (p.Leu140Val)
c.256C>G (p.Leu86Val)
n.931C>G
c.349C>G (p.Leu117Val)
n.884C>G
n.906C>G
16g.50710833C>TCA395867851NOD2c.841C>T (p.Leu281Phe)
c.922C>T (p.Leu308Phe)
n.982C>T
c.418C>T (p.Leu140Phe)
c.256C>T (p.Leu86Phe)
n.931C>T
c.349C>T (p.Leu117Phe)
n.884C>T
n.906C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.50710834T>ACA395867852NOD2c.842T>A (p.Leu281His)
c.923T>A (p.Leu308His)
n.983T>A
c.419T>A (p.Leu140His)
c.257T>A (p.Leu86His)
n.932T>A
c.350T>A (p.Leu117His)
n.885T>A
n.907T>A
16g.50710834T>CCA395867853NOD2c.842T>C (p.Leu281Pro)
c.923T>C (p.Leu308Pro)
n.983T>C
c.419T>C (p.Leu140Pro)
c.257T>C (p.Leu86Pro)
n.932T>C
c.350T>C (p.Leu117Pro)
n.885T>C
n.907T>C
16g.50710834T>GCA395867854NOD2c.842T>G (p.Leu281Arg)
c.923T>G (p.Leu308Arg)
n.983T>G
c.419T>G (p.Leu140Arg)
c.257T>G (p.Leu86Arg)
n.932T>G
c.350T>G (p.Leu117Arg)
n.885T>G
n.907T>G
16g.50710835C>ACA495778224NOD2c.843C>A (p.Leu281=)
c.924C>A (p.Leu308=)
n.984C>A
c.420C>A (p.Leu140=)
c.258C>A (p.Leu86=)
n.933C>A
c.351C>A (p.Leu117=)
n.886C>A
n.908C>A
 dbSNP gnomAD v2 gnomAD v4
16g.50710835C=CA2221859679NOD2c.843C= (p.Leu281=)
c.924C= (p.Leu308=)
n.984C=
c.420C= (p.Leu140=)
c.258C= (p.Leu86=)
n.933C=
c.351C= (p.Leu117=)
n.886C=
n.908C=
16g.50710835C>GCA495778227NOD2c.843C>G (p.Leu281=)
c.924C>G (p.Leu308=)
n.984C>G
c.420C>G (p.Leu140=)
c.258C>G (p.Leu86=)
n.933C>G
c.351C>G (p.Leu117=)
n.886C>G
n.908C>G
16g.50710835C>TCA495778228NOD2c.843C>T (p.Leu281=)
c.924C>T (p.Leu308=)
n.984C>T
c.420C>T (p.Leu140=)
c.258C>T (p.Leu86=)
n.933C>T
c.351C>T (p.Leu117=)
n.886C>T
n.908C>T
 gnomAD v4
16g.50710836C>ACA395867855NOD2c.844C>A (p.Leu282Met)
c.925C>A (p.Leu309Met)
n.985C>A
c.421C>A (p.Leu141Met)
c.259C>A (p.Leu87Met)
n.934C>A
c.352C>A (p.Leu118Met)
n.887C>A
n.909C>A
16g.50710836C>GCA395867856NOD2c.844C>G (p.Leu282Val)
c.925C>G (p.Leu309Val)
n.985C>G
c.421C>G (p.Leu141Val)
c.259C>G (p.Leu87Val)
n.934C>G
c.352C>G (p.Leu118Val)
n.887C>G
n.909C>G
16g.50710836C>TCA495778232NOD2c.844C>T (p.Leu282=)
c.925C>T (p.Leu309=)
n.985C>T
c.421C>T (p.Leu141=)
c.259C>T (p.Leu87=)
n.934C>T
c.352C>T (p.Leu118=)
n.887C>T
n.909C>T
 gnomAD v4
16g.50710837T>ACA395867858NOD2c.845T>A (p.Leu282Gln)
c.926T>A (p.Leu309Gln)
n.986T>A
c.422T>A (p.Leu141Gln)
c.260T>A (p.Leu87Gln)
n.935T>A
c.353T>A (p.Leu118Gln)
n.888T>A
n.910T>A
16g.50710837T>CCA8051425NOD2c.845T>C (p.Leu282Pro)
c.926T>C (p.Leu309Pro)
n.986T>C
c.422T>C (p.Leu141Pro)
c.260T>C (p.Leu87Pro)
n.935T>C
c.353T>C (p.Leu118Pro)
n.888T>C
n.910T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50710837T>GCA395867857NOD2c.845T>G (p.Leu282Arg)
c.926T>G (p.Leu309Arg)
n.986T>G
c.422T>G (p.Leu141Arg)
c.260T>G (p.Leu87Arg)
n.935T>G
c.353T>G (p.Leu118Arg)
n.888T>G
n.910T>G
16g.50710837T=CA2221859685NOD2c.845T= (p.Leu282=)
c.926T= (p.Leu309=)
n.986T=
c.422T= (p.Leu141=)
c.260T= (p.Leu87=)
n.935T=
c.353T= (p.Leu118=)
n.888T=
n.910T=
16g.50710838G>ACA8051426NOD2c.846G>A (p.Leu282=)
c.927G>A (p.Leu309=)
n.987G>A
c.423G>A (p.Leu141=)
c.261G>A (p.Leu87=)
n.936G>A
c.354G>A (p.Leu118=)
n.889G>A
n.911G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50710838G>CCA495778236NOD2c.846G>C (p.Leu282=)
c.927G>C (p.Leu309=)
n.987G>C
c.423G>C (p.Leu141=)
c.261G>C (p.Leu87=)
n.936G>C
c.354G>C (p.Leu118=)
n.889G>C
n.911G>C
16g.50710838G=CA2221859688NOD2c.846G= (p.Leu282=)
c.927G= (p.Leu309=)
n.987G=
c.423G= (p.Leu141=)
c.261G= (p.Leu87=)
n.936G=
c.354G= (p.Leu118=)
n.889G=
n.911G=
16g.50710838G>TCA495778235NOD2c.846G>T (p.Leu282=)
c.927G>T (p.Leu309=)
n.987G>T
c.423G>T (p.Leu141=)
c.261G>T (p.Leu87=)
n.936G>T
c.354G>T (p.Leu118=)
n.889G>T
n.911G>T
16g.50710839C>ACA395867860NOD2c.847C>A (p.Gln283Lys)
c.928C>A (p.Gln310Lys)
n.988C>A
c.424C>A (p.Gln142Lys)
c.262C>A (p.Gln88Lys)
n.937C>A
c.355C>A (p.Gln119Lys)
n.890C>A
n.912C>A
16g.50710839C=CA2221859695NOD2c.847C= (p.Gln283=)
c.928C= (p.Gln310=)
n.988C=
c.424C= (p.Gln142=)
c.262C= (p.Gln88=)
n.937C=
c.355C= (p.Gln119=)
n.890C=
n.912C=
16g.50710839C>GCA395867859NOD2c.847C>G (p.Gln283Glu)
c.928C>G (p.Gln310Glu)
n.988C>G
c.424C>G (p.Gln142Glu)
c.262C>G (p.Gln88Glu)
n.937C>G
c.355C>G (p.Gln119Glu)
n.890C>G
n.912C>G
16g.50710839C>TCA8051427NOD2c.847C>T (p.Gln283Ter)
c.928C>T (p.Gln310Ter)
n.988C>T
c.424C>T (p.Gln142Ter)
c.262C>T (p.Gln88Ter)
n.937C>T
c.355C>T (p.Gln119Ter)
n.890C>T
n.912C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50710840A=CA2221859699NOD2c.848A= (p.Gln283=)
c.929A= (p.Gln310=)
n.989A=
c.425A= (p.Gln142=)
c.263A= (p.Gln88=)
n.938A=
c.356A= (p.Gln119=)
n.891A=
n.913A=
16g.50710840A>CCA395867861NOD2c.848A>C (p.Gln283Pro)
c.929A>C (p.Gln310Pro)
n.989A>C
c.425A>C (p.Gln142Pro)
c.263A>C (p.Gln88Pro)
n.938A>C
c.356A>C (p.Gln119Pro)
n.891A>C
n.913A>C
16g.50710840A>GCA8051428NOD2c.848A>G (p.Gln283Arg)
c.929A>G (p.Gln310Arg)
n.989A>G
c.425A>G (p.Gln142Arg)
c.263A>G (p.Gln88Arg)
n.938A>G
c.356A>G (p.Gln119Arg)
n.891A>G
n.913A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50710840A>TCA395867862NOD2c.848A>T (p.Gln283Leu)
c.929A>T (p.Gln310Leu)
n.989A>T
c.425A>T (p.Gln142Leu)
c.263A>T (p.Gln88Leu)
n.938A>T
c.356A>T (p.Gln119Leu)
n.891A>T
n.913A>T
16g.50710841G>ACA8051429NOD2c.849G>A (p.Gln283=)
c.930G>A (p.Gln310=)
n.990G>A
c.426G>A (p.Gln142=)
c.264G>A (p.Gln88=)
n.939G>A
c.357G>A (p.Gln119=)
n.892G>A
n.914G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50710841G>CCA395867863NOD2c.849G>C (p.Gln283His)
c.930G>C (p.Gln310His)
n.990G>C
c.426G>C (p.Gln142His)
c.264G>C (p.Gln88His)
n.939G>C
c.357G>C (p.Gln119His)
n.892G>C
n.914G>C
16g.50710841G=CA2221859703NOD2c.849G= (p.Gln283=)
c.930G= (p.Gln310=)
n.990G=
c.426G= (p.Gln142=)
c.264G= (p.Gln88=)
n.939G=
c.357G= (p.Gln119=)
n.892G=
n.914G=
16g.50710841G>TCA395867864NOD2c.849G>T (p.Gln283His)
c.930G>T (p.Gln310His)
n.990G>T
c.426G>T (p.Gln142His)
c.264G>T (p.Gln88His)
n.939G>T
c.357G>T (p.Gln119His)
n.892G>T
n.914G>T
16g.50710842C>ACA281261758NOD2c.850C>A (p.Arg284=)
c.931C>A (p.Arg311=)
n.991C>A
c.427C>A (p.Arg143=)
c.265C>A (p.Arg89=)
n.940C>A
c.358C>A (p.Arg120=)
n.893C>A
n.915C>A
 dbSNP gnomAD v4
16g.50710842C=CA2221859712NOD2c.850C= (p.Arg284=)
c.931C= (p.Arg311=)
n.991C=
c.427C= (p.Arg143=)
c.265C= (p.Arg89=)
n.940C=
c.358C= (p.Arg120=)
n.893C=
n.915C=
16g.50710842C>GCA395867865NOD2c.850C>G (p.Arg284Gly)
c.931C>G (p.Arg311Gly)
n.991C>G
c.427C>G (p.Arg143Gly)
c.265C>G (p.Arg89Gly)
n.940C>G
c.358C>G (p.Arg120Gly)
n.893C>G
n.915C>G
16g.50710842C>TCA150354NOD2c.850C>T (p.Arg284Trp)
c.931C>T (p.Arg311Trp)
n.991C>T
c.427C>T (p.Arg143Trp)
c.265C>T (p.Arg89Trp)
n.940C>T
c.358C>T (p.Arg120Trp)
n.893C>T
n.915C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.50710843G>ACA8051430NOD2c.851G>A (p.Arg284Gln)
c.932G>A (p.Arg311Gln)
n.992G>A
c.428G>A (p.Arg143Gln)
c.266G>A (p.Arg89Gln)
n.941G>A
c.359G>A (p.Arg120Gln)
n.894G>A
n.916G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50710843G>CCA395867866NOD2c.851G>C (p.Arg284Pro)
c.932G>C (p.Arg311Pro)
n.992G>C
c.428G>C (p.Arg143Pro)
c.266G>C (p.Arg89Pro)
n.941G>C
c.359G>C (p.Arg120Pro)
n.894G>C
n.916G>C
16g.50710843G=CA2221859720NOD2c.851G= (p.Arg284=)
c.932G= (p.Arg311=)
n.992G=
c.428G= (p.Arg143=)
c.266G= (p.Arg89=)
n.941G=
c.359G= (p.Arg120=)
n.894G=
n.916G=
16g.50710843G>TCA395867867NOD2c.851G>T (p.Arg284Leu)
c.932G>T (p.Arg311Leu)
n.992G>T
c.428G>T (p.Arg143Leu)
c.266G>T (p.Arg89Leu)
n.941G>T
c.359G>T (p.Arg120Leu)
n.894G>T
n.916G>T
16g.50710843_50710846delinsGGCTCA2221859719NOD2c.851_854delinsGGCT (p.Arg284=)
c.932_935delinsGGCT (p.Arg311=)
n.992_995delinsGGCT
c.428_431delinsGGCT (p.Arg143=)
c.266_269delinsGGCT (p.Arg89=)
n.941_944delinsGGCT
c.359_362delinsGGCT (p.Arg120=)
n.894_897delinsGGCT
n.916_919delinsGGCT
16g.50710844G>ACA495778247NOD2c.852G>A (p.Arg284=)
c.933G>A (p.Arg311=)
n.993G>A
c.429G>A (p.Arg143=)
c.267G>A (p.Arg89=)
n.942G>A
c.360G>A (p.Arg120=)
n.895G>A
n.917G>A
16g.50710844G>CCA495778249NOD2c.852G>C (p.Arg284=)
c.933G>C (p.Arg311=)
n.993G>C
c.429G>C (p.Arg143=)
c.267G>C (p.Arg89=)
n.942G>C
c.360G>C (p.Arg120=)
n.895G>C
n.917G>C
16g.50710844G>TCA495778248NOD2c.852G>T (p.Arg284=)
c.933G>T (p.Arg311=)
n.993G>T
c.429G>T (p.Arg143=)
c.267G>T (p.Arg89=)
n.942G>T
c.360G>T (p.Arg120=)
n.895G>T
n.917G>T
16g.50710846_50710848delCA622654296NOD2c.854_856del (p.Leu285del)
c.935_937del (p.Leu312del)
n.995_997del
c.431_433del (p.Leu144del)
c.269_271del (p.Leu90del)
n.944_946del
c.362_364del (p.Leu121del)
n.897_899del
n.919_921del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.50710845C>ACA395867868NOD2c.853C>A (p.Leu285Met)
c.934C>A (p.Leu312Met)
n.994C>A
c.430C>A (p.Leu144Met)
c.268C>A (p.Leu90Met)
n.943C>A
c.361C>A (p.Leu121Met)
n.896C>A
n.918C>A
16g.50710845C>GCA395867869NOD2c.853C>G (p.Leu285Val)
c.934C>G (p.Leu312Val)
n.994C>G
c.430C>G (p.Leu144Val)
c.268C>G (p.Leu90Val)
n.943C>G
c.361C>G (p.Leu121Val)
n.896C>G
n.918C>G
16g.50710845C>TCA495778250NOD2c.853C>T (p.Leu285=)
c.934C>T (p.Leu312=)
n.994C>T
c.430C>T (p.Leu144=)
c.268C>T (p.Leu90=)
n.943C>T
c.361C>T (p.Leu121=)
n.896C>T
n.918C>T
16g.50710846T>ACA395867870NOD2c.854T>A (p.Leu285Gln)
c.935T>A (p.Leu312Gln)
n.995T>A
c.431T>A (p.Leu144Gln)
c.269T>A (p.Leu90Gln)
n.944T>A
c.362T>A (p.Leu121Gln)
n.897T>A
n.919T>A
16g.50710846T>CCA395867871NOD2c.854T>C (p.Leu285Pro)
c.935T>C (p.Leu312Pro)
n.995T>C
c.431T>C (p.Leu144Pro)
c.269T>C (p.Leu90Pro)
n.944T>C
c.362T>C (p.Leu121Pro)
n.897T>C
n.919T>C
 gnomAD v4
16g.50710846T>GCA395867872NOD2c.854T>G (p.Leu285Arg)
c.935T>G (p.Leu312Arg)
n.995T>G
c.431T>G (p.Leu144Arg)
c.269T>G (p.Leu90Arg)
n.944T>G
c.362T>G (p.Leu121Arg)
n.897T>G
n.919T>G
16g.50710847G>ACA495778255NOD2c.855G>A (p.Leu285=)
c.936G>A (p.Leu312=)
n.996G>A
c.432G>A (p.Leu144=)
c.270G>A (p.Leu90=)
n.945G>A
c.363G>A (p.Leu121=)
n.898G>A
n.920G>A
16g.50710847G>CCA495778256NOD2c.855G>C (p.Leu285=)
c.936G>C (p.Leu312=)
n.996G>C
c.432G>C (p.Leu144=)
c.270G>C (p.Leu90=)
n.945G>C
c.363G>C (p.Leu121=)
n.898G>C
n.920G>C
16g.50710847G>TCA495778257NOD2c.855G>T (p.Leu285=)
c.936G>T (p.Leu312=)
n.996G>T
c.432G>T (p.Leu144=)
c.270G>T (p.Leu90=)
n.945G>T
c.363G>T (p.Leu121=)
n.898G>T
n.920G>T
16g.50710848C>ACA395867875NOD2c.856C>A (p.His286Asn)
c.937C>A (p.His313Asn)
n.997C>A
c.433C>A (p.His145Asn)
c.271C>A (p.His91Asn)
n.946C>A
c.364C>A (p.His122Asn)
n.899C>A
n.921C>A
 dbSNP gnomAD v2 gnomAD v4
16g.50710848C=CA2221859726NOD2c.856C= (p.His286=)
c.937C= (p.His313=)
n.997C=
c.433C= (p.His145=)
c.271C= (p.His91=)
n.946C=
c.364C= (p.His122=)
n.899C=
n.921C=
16g.50710848C>GCA395867874NOD2c.856C>G (p.His286Asp)
c.937C>G (p.His313Asp)
n.997C>G
c.433C>G (p.His145Asp)
c.271C>G (p.His91Asp)
n.946C>G
c.364C>G (p.His122Asp)
n.899C>G
n.921C>G
16g.50710848C>TCA395867873NOD2c.856C>T (p.His286Tyr)
c.937C>T (p.His313Tyr)
n.997C>T
c.433C>T (p.His145Tyr)
c.271C>T (p.His91Tyr)
n.946C>T
c.364C>T (p.His122Tyr)
n.899C>T
n.921C>T
 ClinVar dbSNP
16g.50710849A>CCA395867876NOD2c.857A>C (p.His286Pro)
c.938A>C (p.His313Pro)
n.998A>C
c.434A>C (p.His145Pro)
c.272A>C (p.His91Pro)
n.947A>C
c.365A>C (p.His122Pro)
n.900A>C
n.922A>C
16g.50710849A>GCA395867877NOD2c.857A>G (p.His286Arg)
c.938A>G (p.His313Arg)
n.998A>G
c.434A>G (p.His145Arg)
c.272A>G (p.His91Arg)
n.947A>G
c.365A>G (p.His122Arg)
n.900A>G
n.922A>G
16g.50710849A>TCA395867878NOD2c.857A>T (p.His286Leu)
c.938A>T (p.His313Leu)
n.998A>T
c.434A>T (p.His145Leu)
c.272A>T (p.His91Leu)
n.947A>T
c.365A>T (p.His122Leu)
n.900A>T
n.922A>T
16g.50710850C>ACA395867879NOD2c.858C>A (p.His286Gln)
c.939C>A (p.His313Gln)
n.999C>A
c.435C>A (p.His145Gln)
c.273C>A (p.His91Gln)
n.948C>A
c.366C>A (p.His122Gln)
n.901C>A
n.923C>A
16g.50710850C=CA2221859733NOD2c.858C= (p.His286=)
c.939C= (p.His313=)
n.999C=
c.435C= (p.His145=)
c.273C= (p.His91=)
n.948C=
c.366C= (p.His122=)
n.901C=
n.923C=
16g.50710850C>GCA395867880NOD2c.858C>G (p.His286Gln)
c.939C>G (p.His313Gln)
n.999C>G
c.435C>G (p.His145Gln)
c.273C>G (p.His91Gln)
n.948C>G
c.366C>G (p.His122Gln)
n.901C>G
n.923C>G
16g.50710850C>TCA495778262NOD2c.858C>T (p.His286=)
c.939C>T (p.His313=)
n.999C>T
c.435C>T (p.His145=)
c.273C>T (p.His91=)
n.948C>T
c.366C>T (p.His122=)
n.901C>T
n.923C>T
 dbSNP gnomAD v4
16g.50710851T>ACA395867881NOD2c.859T>A (p.Leu287Met)
c.940T>A (p.Leu314Met)
n.1000T>A
c.436T>A (p.Leu146Met)
c.274T>A (p.Leu92Met)
n.949T>A
c.367T>A (p.Leu123Met)
n.902T>A
n.924T>A
16g.50710851T>CCA495778263NOD2c.859T>C (p.Leu287=)
c.940T>C (p.Leu314=)
n.1000T>C
c.436T>C (p.Leu146=)
c.274T>C (p.Leu92=)
n.949T>C
c.367T>C (p.Leu123=)
n.902T>C
n.924T>C
16g.50710851T>GCA395867882NOD2c.859T>G (p.Leu287Val)
c.940T>G (p.Leu314Val)
n.1000T>G
c.436T>G (p.Leu146Val)
c.274T>G (p.Leu92Val)
n.949T>G
c.367T>G (p.Leu123Val)
n.902T>G
n.924T>G
16g.50710852T>ACA395867883NOD2c.860T>A (p.Leu287Ter)
c.941T>A (p.Leu314Ter)
n.1001T>A
c.437T>A (p.Leu146Ter)
c.275T>A (p.Leu92Ter)
n.950T>A
c.368T>A (p.Leu123Ter)
n.903T>A
n.925T>A
16g.50710852T>CCA395867884NOD2c.860T>C (p.Leu287Ser)
c.941T>C (p.Leu314Ser)
n.1001T>C
c.437T>C (p.Leu146Ser)
c.275T>C (p.Leu92Ser)
n.950T>C
c.368T>C (p.Leu123Ser)
n.903T>C
n.925T>C
16g.50710852T>GCA395867885NOD2c.860T>G (p.Leu287Trp)
c.941T>G (p.Leu314Trp)
n.1001T>G
c.437T>G (p.Leu146Trp)
c.275T>G (p.Leu92Trp)
n.950T>G
c.368T>G (p.Leu123Trp)
n.903T>G
n.925T>G
16g.50710853delCA2633163986NOD2c.861del (p.Leu287PhefsTer?)
c.942del (p.Leu314PhefsTer?)
n.1002del
c.438del (p.Leu146PhefsTer?)
c.276del (p.Leu92PhefsTer?)
n.951del
c.369del (p.Leu123PhefsTer?)
n.904del
n.926del
 gnomAD v4
16g.50710853G>ACA495778265NOD2c.861G>A (p.Leu287=)
c.942G>A (p.Leu314=)
n.1002G>A
c.438G>A (p.Leu146=)
c.276G>A (p.Leu92=)
n.951G>A
c.369G>A (p.Leu123=)
n.904G>A
n.926G>A
 gnomAD v4
16g.50710853G>CCA395867886NOD2c.861G>C (p.Leu287Phe)
c.942G>C (p.Leu314Phe)
n.1002G>C
c.438G>C (p.Leu146Phe)
c.276G>C (p.Leu92Phe)
n.951G>C
c.369G>C (p.Leu123Phe)
n.904G>C
n.926G>C
16g.50710853G>TCA395867887NOD2c.861G>T (p.Leu287Phe)
c.942G>T (p.Leu314Phe)
n.1002G>T
c.438G>T (p.Leu146Phe)
c.276G>T (p.Leu92Phe)
n.951G>T
c.369G>T (p.Leu123Phe)
n.904G>T
n.926G>T
16g.50710854C>ACA395867888NOD2c.862C>A (p.Leu288Met)
c.943C>A (p.Leu315Met)
n.1003C>A
c.439C>A (p.Leu147Met)
c.277C>A (p.Leu93Met)
n.952C>A
c.370C>A (p.Leu124Met)
n.905C>A
n.927C>A
16g.50710854C=CA2221859736NOD2c.862C= (p.Leu288=)
c.943C= (p.Leu315=)
n.1003C=
c.439C= (p.Leu147=)
c.277C= (p.Leu93=)
n.952C=
c.370C= (p.Leu124=)
n.905C=
n.927C=
16g.50710854C>GCA395867889NOD2c.862C>G (p.Leu288Val)
c.943C>G (p.Leu315Val)
n.1003C>G
c.439C>G (p.Leu147Val)
c.277C>G (p.Leu93Val)
n.952C>G
c.370C>G (p.Leu124Val)
n.905C>G
n.927C>G
16g.50710854C>TCA495778266NOD2c.862C>T (p.Leu288=)
c.943C>T (p.Leu315=)
n.1003C>T
c.439C>T (p.Leu147=)
c.277C>T (p.Leu93=)
n.952C>T
c.370C>T (p.Leu124=)
n.905C>T
n.927C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.50710855T>ACA395867892NOD2c.863T>A (p.Leu288Gln)
c.944T>A (p.Leu315Gln)
n.1004T>A
c.440T>A (p.Leu147Gln)
c.278T>A (p.Leu93Gln)
n.953T>A
c.371T>A (p.Leu124Gln)
n.906T>A
n.928T>A
16g.50710855T>CCA395867891NOD2c.863T>C (p.Leu288Pro)
c.944T>C (p.Leu315Pro)
n.1004T>C
c.440T>C (p.Leu147Pro)
c.278T>C (p.Leu93Pro)
n.953T>C
c.371T>C (p.Leu124Pro)
n.906T>C
n.928T>C
16g.50710855T>GCA395867890NOD2c.863T>G (p.Leu288Arg)
c.944T>G (p.Leu315Arg)
n.1004T>G
c.440T>G (p.Leu147Arg)
c.278T>G (p.Leu93Arg)
n.953T>G
c.371T>G (p.Leu124Arg)
n.906T>G
n.928T>G
16g.50710856G>ACA495778271NOD2c.864G>A (p.Leu288=)
c.945G>A (p.Leu315=)
n.1005G>A
c.441G>A (p.Leu147=)
c.279G>A (p.Leu93=)
n.954G>A
c.372G>A (p.Leu124=)
n.907G>A
n.929G>A
 gnomAD v4
16g.50710856G>CCA495778273NOD2c.864G>C (p.Leu288=)
c.945G>C (p.Leu315=)
n.1005G>C
c.441G>C (p.Leu147=)
c.279G>C (p.Leu93=)
n.954G>C
c.372G>C (p.Leu124=)
n.907G>C
n.929G>C
16g.50710856G=CA2221859743NOD2c.864G= (p.Leu288=)
c.945G= (p.Leu315=)
n.1005G=
c.441G= (p.Leu147=)
c.279G= (p.Leu93=)
n.954G=
c.372G= (p.Leu124=)
n.907G=
n.929G=
16g.50710856G>TCA495778275NOD2c.864G>T (p.Leu288=)
c.945G>T (p.Leu315=)
n.1005G>T
c.441G>T (p.Leu147=)
c.279G>T (p.Leu93=)
n.954G>T
c.372G>T (p.Leu124=)
n.907G>T
n.929G>T
 dbSNP
16g.50710857T>ACA395867893NOD2c.865T>A (p.Trp289Arg)
c.946T>A (p.Trp316Arg)
n.1006T>A
c.442T>A (p.Trp148Arg)
c.280T>A (p.Trp94Arg)
n.955T>A
c.373T>A (p.Trp125Arg)
n.908T>A
n.930T>A
16g.50710857T>CCA395867894NOD2c.865T>C (p.Trp289Arg)
c.946T>C (p.Trp316Arg)
n.1006T>C
c.442T>C (p.Trp148Arg)
c.280T>C (p.Trp94Arg)
n.955T>C
c.373T>C (p.Trp125Arg)
n.908T>C
n.930T>C
16g.50710857T>GCA395867895NOD2c.865T>G (p.Trp289Gly)
c.946T>G (p.Trp316Gly)
n.1006T>G
c.442T>G (p.Trp148Gly)
c.280T>G (p.Trp94Gly)
n.955T>G
c.373T>G (p.Trp125Gly)
n.908T>G
n.930T>G
16g.50710858G>ACA395867896NOD2c.866G>A (p.Trp289Ter)
c.947G>A (p.Trp316Ter)
n.1007G>A
c.443G>A (p.Trp148Ter)
c.281G>A (p.Trp94Ter)
n.956G>A
c.374G>A (p.Trp125Ter)
n.909G>A
n.931G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.50710858G>CCA395867897NOD2c.866G>C (p.Trp289Ser)
c.947G>C (p.Trp316Ser)
n.1007G>C
c.443G>C (p.Trp148Ser)
c.281G>C (p.Trp94Ser)
n.956G>C
c.374G>C (p.Trp125Ser)
n.909G>C
n.931G>C
 dbSNP gnomAD v3 gnomAD v4
16g.50710858G=CA2221859749NOD2c.866G= (p.Trp289=)
c.947G= (p.Trp316=)
n.1007G=
c.443G= (p.Trp148=)
c.281G= (p.Trp94=)
n.956G=
c.374G= (p.Trp125=)
n.909G=
n.931G=
16g.50710858G>TCA395867898NOD2c.866G>T (p.Trp289Leu)
c.947G>T (p.Trp316Leu)
n.1007G>T
c.443G>T (p.Trp148Leu)
c.281G>T (p.Trp94Leu)
n.956G>T
c.374G>T (p.Trp125Leu)
n.909G>T
n.931G>T
16g.50710860dupCA2573152311NOD2c.868dup (p.Ala290GlyfsTer?)
c.949dup (p.Ala317GlyfsTer?)
n.1009dup
c.445dup (p.Ala149GlyfsTer?)
c.283dup (p.Ala95GlyfsTer?)
n.958dup
c.376dup (p.Ala126GlyfsTer?)
n.911dup
n.933dup
 ClinVar dbSNP
16g.50710859G>ACA395867899NOD2c.867G>A (p.Trp289Ter)
c.948G>A (p.Trp316Ter)
n.1008G>A
c.444G>A (p.Trp148Ter)
c.282G>A (p.Trp94Ter)
n.957G>A
c.375G>A (p.Trp125Ter)
n.910G>A
n.932G>A
16g.50710859G>CCA395867900NOD2c.867G>C (p.Trp289Cys)
c.948G>C (p.Trp316Cys)
n.1008G>C
c.444G>C (p.Trp148Cys)
c.282G>C (p.Trp94Cys)
n.957G>C
c.375G>C (p.Trp125Cys)
n.910G>C
n.932G>C
16g.50710859G>TCA395867901NOD2c.867G>T (p.Trp289Cys)
c.948G>T (p.Trp316Cys)
n.1008G>T
c.444G>T (p.Trp148Cys)
c.282G>T (p.Trp94Cys)
n.957G>T
c.375G>T (p.Trp125Cys)
n.910G>T
n.932G>T
16g.50710860G>ACA395867902NOD2c.868G>A (p.Ala290Thr)
c.949G>A (p.Ala317Thr)
n.1009G>A
c.445G>A (p.Ala149Thr)
c.283G>A (p.Ala95Thr)
n.958G>A
c.376G>A (p.Ala126Thr)
n.911G>A
n.933G>A
 dbSNP gnomAD v3 gnomAD v4
16g.50710860G>CCA395867903NOD2c.868G>C (p.Ala290Pro)
c.949G>C (p.Ala317Pro)
n.1009G>C
c.445G>C (p.Ala149Pro)
c.283G>C (p.Ala95Pro)
n.958G>C
c.376G>C (p.Ala126Pro)
n.911G>C
n.933G>C
16g.50710860G=CA2221859754NOD2c.868G= (p.Ala290=)
c.949G= (p.Ala317=)
n.1009G=
c.445G= (p.Ala149=)
c.283G= (p.Ala95=)
n.958G=
c.376G= (p.Ala126=)
n.911G=
n.933G=
16g.50710860G>TCA395867904NOD2c.868G>T (p.Ala290Ser)
c.949G>T (p.Ala317Ser)
n.1009G>T
c.445G>T (p.Ala149Ser)
c.283G>T (p.Ala95Ser)
n.958G>T
c.376G>T (p.Ala126Ser)
n.911G>T
n.933G>T
16g.50710861C>ACA395867906NOD2c.869C>A (p.Ala290Asp)
c.950C>A (p.Ala317Asp)
n.1010C>A
c.446C>A (p.Ala149Asp)
c.284C>A (p.Ala95Asp)
n.959C>A
c.377C>A (p.Ala126Asp)
n.912C>A
n.934C>A
16g.50710861C=CA2221859759NOD2c.869C= (p.Ala290=)
c.950C= (p.Ala317=)
n.1010C=
c.446C= (p.Ala149=)
c.284C= (p.Ala95=)
n.959C=
c.377C= (p.Ala126=)
n.912C=
n.934C=
16g.50710861C>GCA395867905NOD2c.869C>G (p.Ala290Gly)
c.950C>G (p.Ala317Gly)
n.1010C>G
c.446C>G (p.Ala149Gly)
c.284C>G (p.Ala95Gly)
n.959C>G
c.377C>G (p.Ala126Gly)
n.912C>G
n.934C>G
16g.50710861C>TCA8051431NOD2c.869C>T (p.Ala290Val)
c.950C>T (p.Ala317Val)
n.1010C>T
c.446C>T (p.Ala149Val)
c.284C>T (p.Ala95Val)
n.959C>T
c.377C>T (p.Ala126Val)
n.912C>T
n.934C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50710862T>ACA495778281NOD2c.870T>A (p.Ala290=)
c.951T>A (p.Ala317=)
n.1011T>A
c.447T>A (p.Ala149=)
c.285T>A (p.Ala95=)
n.960T>A
c.378T>A (p.Ala126=)
n.913T>A
n.935T>A
 ClinVar gnomAD v4
16g.50710862T>CCA495778282NOD2c.870T>C (p.Ala290=)
c.951T>C (p.Ala317=)
n.1011T>C
c.447T>C (p.Ala149=)
c.285T>C (p.Ala95=)
n.960T>C
c.378T>C (p.Ala126=)
n.913T>C
n.935T>C
16g.50710862T>GCA495778283NOD2c.870T>G (p.Ala290=)
c.951T>G (p.Ala317=)
n.1011T>G
c.447T>G (p.Ala149=)
c.285T>G (p.Ala95=)
n.960T>G
c.378T>G (p.Ala126=)
n.913T>G
n.935T>G
16g.50710863G>ACA395867907NOD2c.871G>A (p.Ala291Thr)
c.952G>A (p.Ala318Thr)
n.1012G>A
c.448G>A (p.Ala150Thr)
c.286G>A (p.Ala96Thr)
n.961G>A
c.379G>A (p.Ala127Thr)
n.914G>A
n.936G>A
 gnomAD v4
16g.50710863G>CCA395867908NOD2c.871G>C (p.Ala291Pro)
c.952G>C (p.Ala318Pro)
n.1012G>C
c.448G>C (p.Ala150Pro)
c.286G>C (p.Ala96Pro)
n.961G>C
c.379G>C (p.Ala127Pro)
n.914G>C
n.936G>C
16g.50710863G>TCA395867909NOD2c.871G>T (p.Ala291Ser)
c.952G>T (p.Ala318Ser)
n.1012G>T
c.448G>T (p.Ala150Ser)
c.286G>T (p.Ala96Ser)
n.961G>T
c.379G>T (p.Ala127Ser)
n.914G>T
n.936G>T
16g.50710864C>ACA395867910NOD2c.872C>A (p.Ala291Glu)
c.953C>A (p.Ala318Glu)
n.1013C>A
c.449C>A (p.Ala150Glu)
c.287C>A (p.Ala96Glu)
n.962C>A
c.380C>A (p.Ala127Glu)
n.915C>A
n.937C>A
16g.50710864C=CA2221859762NOD2c.872C= (p.Ala291=)
c.953C= (p.Ala318=)
n.1013C=
c.449C= (p.Ala150=)
c.287C= (p.Ala96=)
n.962C=
c.380C= (p.Ala127=)
n.915C=
n.937C=
16g.50710864C>GCA395867911NOD2c.872C>G (p.Ala291Gly)
c.953C>G (p.Ala318Gly)
n.1013C>G
c.449C>G (p.Ala150Gly)
c.287C>G (p.Ala96Gly)
n.962C>G
c.380C>G (p.Ala127Gly)
n.915C>G
n.937C>G
16g.50710864C>TCA395867912NOD2c.872C>T (p.Ala291Val)
c.953C>T (p.Ala318Val)
n.1013C>T
c.449C>T (p.Ala150Val)
c.287C>T (p.Ala96Val)
n.962C>T
c.380C>T (p.Ala127Val)
n.915C>T
n.937C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.50710865A=CA2221859765NOD2c.873A= (p.Ala291=)
c.954A= (p.Ala318=)
n.1014A=
c.450A= (p.Ala150=)
c.288A= (p.Ala96=)
n.963A=
c.381A= (p.Ala127=)
n.916A=
n.938A=
16g.50710865A>CCA495778285NOD2c.873A>C (p.Ala291=)
c.954A>C (p.Ala318=)
n.1014A>C
c.450A>C (p.Ala150=)
c.288A>C (p.Ala96=)
n.963A>C
c.381A>C (p.Ala127=)
n.916A>C
n.938A>C
 ClinVar dbSNP gnomAD v4
16g.50710865A>GCA281261803NOD2c.873A>G (p.Ala291=)
c.954A>G (p.Ala318=)
n.1014A>G
c.450A>G (p.Ala150=)
c.288A>G (p.Ala96=)
n.963A>G
c.381A>G (p.Ala127=)
n.916A>G
n.938A>G
 dbSNP
16g.50710865A>TCA495778287NOD2c.873A>T (p.Ala291=)
c.954A>T (p.Ala318=)
n.1014A>T
c.450A>T (p.Ala150=)
c.288A>T (p.Ala96=)
n.963A>T
c.381A>T (p.Ala127=)
n.916A>T
n.938A>T
16g.50710866G>ACA395867913NOD2c.874G>A (p.Gly292Arg)
c.955G>A (p.Gly319Arg)
n.1015G>A
c.451G>A (p.Gly151Arg)
c.289G>A (p.Gly97Arg)
n.964G>A
c.382G>A (p.Gly128Arg)
n.917G>A
n.939G>A
16g.50710866G>CCA395867914NOD2c.874G>C (p.Gly292Arg)
c.955G>C (p.Gly319Arg)
n.1015G>C
c.451G>C (p.Gly151Arg)
c.289G>C (p.Gly97Arg)
n.964G>C
c.382G>C (p.Gly128Arg)
n.917G>C
n.939G>C
16g.50710866G=CA2221859767NOD2c.874G= (p.Gly292=)
c.955G= (p.Gly319=)
n.1015G=
c.451G= (p.Gly151=)
c.289G= (p.Gly97=)
n.964G=
c.382G= (p.Gly128=)
n.917G=
n.939G=
16g.50710866G>TCA8051432NOD2c.874G>T (p.Gly292Trp)
c.955G>T (p.Gly319Trp)
n.1015G>T
c.451G>T (p.Gly151Trp)
c.289G>T (p.Gly97Trp)
n.964G>T
c.382G>T (p.Gly128Trp)
n.917G>T
n.939G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50710867G>ACA395867915NOD2c.875G>A (p.Gly292Glu)
c.956G>A (p.Gly319Glu)
n.1016G>A
c.452G>A (p.Gly151Glu)
c.290G>A (p.Gly97Glu)
n.965G>A
c.383G>A (p.Gly128Glu)
n.918G>A
n.940G>A
 dbSNP gnomAD v2 gnomAD v4
16g.50710867G>CCA395867916NOD2c.875G>C (p.Gly292Ala)
c.956G>C (p.Gly319Ala)
n.1016G>C
c.452G>C (p.Gly151Ala)
c.290G>C (p.Gly97Ala)
n.965G>C
c.383G>C (p.Gly128Ala)
n.918G>C
n.940G>C
16g.50710867G=CA2221859775NOD2c.875G= (p.Gly292=)
c.956G= (p.Gly319=)
n.1016G=
c.452G= (p.Gly151=)
c.290G= (p.Gly97=)
n.965G=
c.383G= (p.Gly128=)
n.918G=
n.940G=
16g.50710867G>TCA395867917NOD2c.875G>T (p.Gly292Val)
c.956G>T (p.Gly319Val)
n.1016G>T
c.452G>T (p.Gly151Val)
c.290G>T (p.Gly97Val)
n.965G>T
c.383G>T (p.Gly128Val)
n.918G>T
n.940G>T
16g.50710868G>ACA8051433NOD2c.876G>A (p.Gly292=)
c.957G>A (p.Gly319=)
n.1017G>A
c.453G>A (p.Gly151=)
c.291G>A (p.Gly97=)
n.966G>A
c.384G>A (p.Gly128=)
n.919G>A
n.941G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50710868G>CCA495778291NOD2c.876G>C (p.Gly292=)
c.957G>C (p.Gly319=)
n.1017G>C
c.453G>C (p.Gly151=)
c.291G>C (p.Gly97=)
n.966G>C
c.384G>C (p.Gly128=)
n.919G>C
n.941G>C
16g.50710868G=CA2221859783NOD2c.876G= (p.Gly292=)
c.957G= (p.Gly319=)
n.1017G=
c.453G= (p.Gly151=)
c.291G= (p.Gly97=)
n.966G=
c.384G= (p.Gly128=)
n.919G=
n.941G=
16g.50710868G>TCA495778290NOD2c.876G>T (p.Gly292=)
c.957G>T (p.Gly319=)
n.1017G>T
c.453G>T (p.Gly151=)
c.291G>T (p.Gly97=)
n.966G>T
c.384G>T (p.Gly128=)
n.919G>T
n.941G>T
16g.50710868_50710869delinsGCCA2221859779NOD2c.876_877delinsGC (p.Gly292=)
c.957_958delinsGC (p.Gly319=)
n.1017_1018delinsGC
c.453_454delinsGC (p.Gly151=)
c.291_292delinsGC (p.Gly97=)
n.966_967delinsGC
c.384_385delinsGC (p.Gly128=)
n.919_920delinsGC
n.941_942delinsGC
16g.50710869delCA8051434NOD2c.877del (p.Gln293LysfsTer?)
c.958del (p.Gln320LysfsTer?)
n.1018del
c.454del (p.Gln152LysfsTer?)
c.292del (p.Gln98LysfsTer?)
n.967del
c.385del (p.Gln129LysfsTer?)
n.920del
n.942del
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50710869C>ACA395867920NOD2c.877C>A (p.Gln293Lys)
c.958C>A (p.Gln320Lys)
n.1018C>A
c.454C>A (p.Gln152Lys)
c.292C>A (p.Gln98Lys)
n.967C>A
c.385C>A (p.Gln129Lys)
n.920C>A
n.942C>A
 gnomAD v4
16g.50710869C>GCA395867919NOD2c.877C>G (p.Gln293Glu)
c.958C>G (p.Gln320Glu)
n.1018C>G
c.454C>G (p.Gln152Glu)
c.292C>G (p.Gln98Glu)
n.967C>G
c.385C>G (p.Gln129Glu)
n.920C>G
n.942C>G
16g.50710869C>TCA395867918NOD2c.877C>T (p.Gln293Ter)
c.958C>T (p.Gln320Ter)
n.1018C>T
c.454C>T (p.Gln152Ter)
c.292C>T (p.Gln98Ter)
n.967C>T
c.385C>T (p.Gln129Ter)
n.920C>T
n.942C>T
16g.50710870A=CA2221859791NOD2c.878A= (p.Gln293=)
c.959A= (p.Gln320=)
n.1019A=
c.455A= (p.Gln152=)
c.293A= (p.Gln98=)
n.968A=
c.386A= (p.Gln129=)
n.921A=
n.943A=
16g.50710870A>CCA395867921NOD2c.878A>C (p.Gln293Pro)
c.959A>C (p.Gln320Pro)
n.1019A>C
c.455A>C (p.Gln152Pro)
c.293A>C (p.Gln98Pro)
n.968A>C
c.386A>C (p.Gln129Pro)
n.921A>C
n.943A>C
16g.50710870A>GCA8051435NOD2c.878A>G (p.Gln293Arg)
c.959A>G (p.Gln320Arg)
n.1019A>G
c.455A>G (p.Gln152Arg)
c.293A>G (p.Gln98Arg)
n.968A>G
c.386A>G (p.Gln129Arg)
n.921A>G
n.943A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50710870A>TCA395867922NOD2c.878A>T (p.Gln293Leu)
c.959A>T (p.Gln320Leu)
n.1019A>T
c.455A>T (p.Gln152Leu)
c.293A>T (p.Gln98Leu)
n.968A>T
c.386A>T (p.Gln129Leu)
n.921A>T
n.943A>T
16g.50710871A=CA2221859796NOD2c.879A= (p.Gln293=)
c.960A= (p.Gln320=)
n.1020A=
c.456A= (p.Gln152=)
c.294A= (p.Gln98=)
n.969A=
c.387A= (p.Gln129=)
n.922A=
n.944A=
16g.50710871A>CCA395867923NOD2c.879A>C (p.Gln293His)
c.960A>C (p.Gln320His)
n.1020A>C
c.456A>C (p.Gln152His)
c.294A>C (p.Gln98His)
n.969A>C
c.387A>C (p.Gln129His)
n.922A>C
n.944A>C
16g.50710871A>GCA281261818NOD2c.879A>G (p.Gln293=)
c.960A>G (p.Gln320=)
n.1020A>G
c.456A>G (p.Gln152=)
c.294A>G (p.Gln98=)
n.969A>G
c.387A>G (p.Gln129=)
n.922A>G
n.944A>G
 dbSNP gnomAD v4
16g.50710871A>TCA395867924NOD2c.879A>T (p.Gln293His)
c.960A>T (p.Gln320His)
n.1020A>T
c.456A>T (p.Gln152His)
c.294A>T (p.Gln98His)
n.969A>T
c.387A>T (p.Gln129His)
n.922A>T
n.944A>T
16g.50710872G>ACA395867927NOD2c.880G>A (p.Asp294Asn)
c.961G>A (p.Asp321Asn)
n.1021G>A
c.457G>A (p.Asp153Asn)
c.295G>A (p.Asp99Asn)
n.970G>A
c.388G>A (p.Asp130Asn)
n.923G>A
n.945G>A
16g.50710872G>CCA395867925NOD2c.880G>C (p.Asp294His)
c.961G>C (p.Asp321His)
n.1021G>C
c.457G>C (p.Asp153His)
c.295G>C (p.Asp99His)
n.970G>C
c.388G>C (p.Asp130His)
n.923G>C
n.945G>C
16g.50710872G=CA2221859819NOD2c.880G= (p.Asp294=)
c.961G= (p.Asp321=)
n.1021G=
c.457G= (p.Asp153=)
c.295G= (p.Asp99=)
n.970G=
c.388G= (p.Asp130=)
n.923G=
n.945G=
16g.50710872G>TCA395867926NOD2c.880G>T (p.Asp294Tyr)
c.961G>T (p.Asp321Tyr)
n.1021G>T
c.457G>T (p.Asp153Tyr)
c.295G>T (p.Asp99Tyr)
n.970G>T
c.388G>T (p.Asp130Tyr)
n.923G>T
n.945G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched