Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.50710715_50710733del | CA2633163778 | NOD2 | c.723_741del (p.Gln243TrpfsTer?) c.804_822del (p.Gln270TrpfsTer?) n.864_882del c.*1419_*1437del (n.*1419_*1437del) n.802_820del c.300_318del (p.Gln102TrpfsTer?) c.138_156del (p.Gln48TrpfsTer?) n.813_831del c.231_249del (p.Gln79TrpfsTer?) n.766_784del n.788_806del | gnomAD v4 |
16 | g.50710720A= | CA2221859306 | NOD2 | c.728A= (p.Gln243=) c.809A= (p.Gln270=) n.869A= c.*1424A= (n.*1424A=) n.807A= c.305A= (p.Gln102=) c.143A= (p.Gln48=) n.818A= c.236A= (p.Gln79=) n.771A= n.793A= | |
16 | g.50710720A>C | CA395867610 | NOD2 | c.728A>C (p.Gln243Pro) c.809A>C (p.Gln270Pro) n.869A>C c.*1424A>C (n.*1424A>C) n.807A>C c.305A>C (p.Gln102Pro) c.143A>C (p.Gln48Pro) n.818A>C c.236A>C (p.Gln79Pro) n.771A>C n.793A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50710720A>G | CA395867611 | NOD2 | c.728A>G (p.Gln243Arg) c.809A>G (p.Gln270Arg) n.869A>G c.*1424A>G (n.*1424A>G) n.807A>G c.305A>G (p.Gln102Arg) c.143A>G (p.Gln48Arg) n.818A>G c.236A>G (p.Gln79Arg) n.771A>G n.793A>G | |
16 | g.50710720A>T | CA395867612 | NOD2 | c.728A>T (p.Gln243Leu) c.809A>T (p.Gln270Leu) n.869A>T c.*1424A>T (n.*1424A>T) n.807A>T c.305A>T (p.Gln102Leu) c.143A>T (p.Gln48Leu) n.818A>T c.236A>T (p.Gln79Leu) n.771A>T n.793A>T | |
16 | g.50710721G>A | CA495455330 | NOD2 | c.729G>A (p.Gln243=) c.810G>A (p.Gln270=) n.870G>A c.*1425G>A (n.*1425G>A) n.808G>A c.306G>A (p.Gln102=) c.144G>A (p.Gln48=) n.819G>A c.237G>A (p.Gln79=) n.772G>A n.794G>A | |
16 | g.50710721G>C | CA395867613 | NOD2 | c.729G>C (p.Gln243His) c.810G>C (p.Gln270His) n.870G>C c.*1425G>C (n.*1425G>C) n.808G>C c.306G>C (p.Gln102His) c.144G>C (p.Gln48His) n.819G>C c.237G>C (p.Gln79His) n.772G>C n.794G>C | |
16 | g.50710721G>T | CA395867614 | NOD2 | c.729G>T (p.Gln243His) c.810G>T (p.Gln270His) n.870G>T c.*1425G>T (n.*1425G>T) n.808G>T c.306G>T (p.Gln102His) c.144G>T (p.Gln48His) n.819G>T c.237G>T (p.Gln79His) n.772G>T n.794G>T | |
16 | g.50710722A>C | CA395867617 | NOD2 | c.730A>C (p.Lys244Gln) c.811A>C (p.Lys271Gln) n.871A>C c.*1426A>C (n.*1426A>C) n.809A>C c.307A>C (p.Lys103Gln) c.145A>C (p.Lys49Gln) n.820A>C c.238A>C (p.Lys80Gln) n.773A>C n.795A>C | |
16 | g.50710722A>G | CA395867616 | NOD2 | c.730A>G (p.Lys244Glu) c.811A>G (p.Lys271Glu) n.871A>G c.*1426A>G (n.*1426A>G) n.809A>G c.307A>G (p.Lys103Glu) c.145A>G (p.Lys49Glu) n.820A>G c.238A>G (p.Lys80Glu) n.773A>G n.795A>G | |
16 | g.50710722A>T | CA395867615 | NOD2 | c.730A>T (p.Lys244Ter) c.811A>T (p.Lys271Ter) n.871A>T c.*1426A>T (n.*1426A>T) n.809A>T c.307A>T (p.Lys103Ter) c.145A>T (p.Lys49Ter) n.820A>T c.238A>T (p.Lys80Ter) n.773A>T n.795A>T | |
16 | g.50710723A>C | CA395867618 | NOD2 | c.731A>C (p.Lys244Thr) c.812A>C (p.Lys271Thr) n.872A>C c.*1427A>C (n.*1427A>C) n.810A>C c.308A>C (p.Lys103Thr) c.146A>C (p.Lys49Thr) n.821A>C c.239A>C (p.Lys80Thr) n.774A>C n.796A>C | |
16 | g.50710723A>G | CA395867619 | NOD2 | c.731A>G (p.Lys244Arg) c.812A>G (p.Lys271Arg) n.872A>G c.*1427A>G (n.*1427A>G) n.810A>G c.308A>G (p.Lys103Arg) c.146A>G (p.Lys49Arg) n.821A>G c.239A>G (p.Lys80Arg) n.774A>G n.796A>G | |
16 | g.50710723A>T | CA395867620 | NOD2 | c.731A>T (p.Lys244Met) c.812A>T (p.Lys271Met) n.872A>T c.*1427A>T (n.*1427A>T) n.810A>T c.308A>T (p.Lys103Met) c.146A>T (p.Lys49Met) n.821A>T c.239A>T (p.Lys80Met) n.774A>T n.796A>T | |
16 | g.50710724G>A | CA8051402 | NOD2 | c.732G>A (p.Lys244=) c.813G>A (p.Lys271=) n.873G>A c.*1428G>A (n.*1428G>A) n.811G>A c.309G>A (p.Lys103=) c.147G>A (p.Lys49=) n.822G>A c.240G>A (p.Lys80=) n.775G>A n.797G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50710724G>C | CA395867621 | NOD2 | c.732G>C (p.Lys244Asn) c.813G>C (p.Lys271Asn) n.873G>C c.*1428G>C (n.*1428G>C) n.811G>C c.309G>C (p.Lys103Asn) c.147G>C (p.Lys49Asn) n.822G>C c.240G>C (p.Lys80Asn) n.775G>C n.797G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50710724G= | CA2221859311 | NOD2 | c.732G= (p.Lys244=) c.813G= (p.Lys271=) n.873G= c.*1428G= (n.*1428G=) n.811G= c.309G= (p.Lys103=) c.147G= (p.Lys49=) n.822G= c.240G= (p.Lys80=) n.775G= n.797G= | |
16 | g.50710724G>T | CA395867622 | NOD2 | c.732G>T (p.Lys244Asn) c.813G>T (p.Lys271Asn) n.873G>T c.*1428G>T (n.*1428G>T) n.811G>T c.309G>T (p.Lys103Asn) c.147G>T (p.Lys49Asn) n.822G>T c.240G>T (p.Lys80Asn) n.775G>T n.797G>T | |
16 | g.50710725A>C | CA395867623 | NOD2 | c.733A>C (p.Ser245Arg) c.814A>C (p.Ser272Arg) n.874A>C c.*1429A>C (n.*1429A>C) n.812A>C c.310A>C (p.Ser104Arg) c.148A>C (p.Ser50Arg) n.823A>C c.241A>C (p.Ser81Arg) n.776A>C n.798A>C | |
16 | g.50710725A>G | CA395867624 | NOD2 | c.733A>G (p.Ser245Gly) c.814A>G (p.Ser272Gly) n.874A>G c.*1429A>G (n.*1429A>G) n.812A>G c.310A>G (p.Ser104Gly) c.148A>G (p.Ser50Gly) n.823A>G c.241A>G (p.Ser81Gly) n.776A>G n.798A>G | gnomAD v4 |
16 | g.50710725A>T | CA395867625 | NOD2 | c.733A>T (p.Ser245Cys) c.814A>T (p.Ser272Cys) n.874A>T c.*1429A>T (n.*1429A>T) n.812A>T c.310A>T (p.Ser104Cys) c.148A>T (p.Ser50Cys) n.823A>T c.241A>T (p.Ser81Cys) n.776A>T n.798A>T | |
16 | g.50710726G>A | CA395867626 | NOD2 | c.734G>A (p.Ser245Asn) c.815G>A (p.Ser272Asn) n.875G>A c.*1430G>A (n.*1430G>A) n.813G>A c.311G>A (p.Ser104Asn) c.149G>A (p.Ser50Asn) n.824G>A c.242G>A (p.Ser81Asn) n.777G>A n.799G>A | dbSNP COSMIC |
16 | g.50710726G>C | CA395867627 | NOD2 | c.734G>C (p.Ser245Thr) c.815G>C (p.Ser272Thr) n.875G>C c.*1430G>C (n.*1430G>C) n.813G>C c.311G>C (p.Ser104Thr) c.149G>C (p.Ser50Thr) n.824G>C c.242G>C (p.Ser81Thr) n.777G>C n.799G>C | dbSNP |
16 | g.50710726G= | CA2221859322 | NOD2 | c.734G= (p.Ser245=) c.815G= (p.Ser272=) n.875G= c.*1430G= (n.*1430G=) n.813G= c.311G= (p.Ser104=) c.149G= (p.Ser50=) n.824G= c.242G= (p.Ser81=) n.777G= n.799G= | |
16 | g.50710726G>T | CA395867628 | NOD2 | c.734G>T (p.Ser245Ile) c.815G>T (p.Ser272Ile) n.875G>T c.*1430G>T (n.*1430G>T) n.813G>T c.311G>T (p.Ser104Ile) c.149G>T (p.Ser50Ile) n.824G>T c.242G>T (p.Ser81Ile) n.777G>T n.799G>T | |
16 | g.50710727C>A | CA395867629 | NOD2 | c.735C>A (p.Ser245Arg) c.816C>A (p.Ser272Arg) n.876C>A c.*1431C>A (n.*1431C>A) n.814C>A c.312C>A (p.Ser104Arg) c.150C>A (p.Ser50Arg) n.825C>A c.243C>A (p.Ser81Arg) n.778C>A n.800C>A | |
16 | g.50710727C= | CA2221859332 | NOD2 | c.735C= (p.Ser245=) c.816C= (p.Ser272=) n.876C= c.*1431C= (n.*1431C=) n.814C= c.312C= (p.Ser104=) c.150C= (p.Ser50=) n.825C= c.243C= (p.Ser81=) n.778C= n.800C= | |
16 | g.50710727C>G | CA395867630 | NOD2 | c.735C>G (p.Ser245Arg) c.816C>G (p.Ser272Arg) n.876C>G c.*1431C>G (n.*1431C>G) n.814C>G c.312C>G (p.Ser104Arg) c.150C>G (p.Ser50Arg) n.825C>G c.243C>G (p.Ser81Arg) n.778C>G n.800C>G | |
16 | g.50710727C>T | CA8051403 | NOD2 | c.735C>T (p.Ser245=) c.816C>T (p.Ser272=) n.876C>T c.*1431C>T (n.*1431C>T) n.814C>T c.312C>T (p.Ser104=) c.150C>T (p.Ser50=) n.825C>T c.243C>T (p.Ser81=) n.778C>T n.800C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50710728C>A | CA395867631 | NOD2 | c.736C>A (p.Pro246Thr) c.817C>A (p.Pro273Thr) n.877C>A c.*1432C>A (n.*1432C>A) n.815C>A c.313C>A (p.Pro105Thr) c.151C>A (p.Pro51Thr) n.826C>A c.244C>A (p.Pro82Thr) n.779C>A n.801C>A | |
16 | g.50710728C>G | CA395867633 | NOD2 | c.736C>G (p.Pro246Ala) c.817C>G (p.Pro273Ala) n.877C>G c.*1432C>G (n.*1432C>G) n.815C>G c.313C>G (p.Pro105Ala) c.151C>G (p.Pro51Ala) n.826C>G c.244C>G (p.Pro82Ala) n.779C>G n.801C>G | |
16 | g.50710728C>T | CA395867632 | NOD2 | c.736C>T (p.Pro246Ser) c.817C>T (p.Pro273Ser) n.877C>T c.*1432C>T (n.*1432C>T) n.815C>T c.313C>T (p.Pro105Ser) c.151C>T (p.Pro51Ser) n.826C>T c.244C>T (p.Pro82Ser) n.779C>T n.801C>T | gnomAD v4 |
16 | g.50710729C>A | CA395867634 | NOD2 | c.737C>A (p.Pro246Gln) c.818C>A (p.Pro273Gln) n.878C>A c.*1433C>A (n.*1433C>A) n.816C>A c.314C>A (p.Pro105Gln) c.152C>A (p.Pro51Gln) n.827C>A c.245C>A (p.Pro82Gln) n.780C>A n.802C>A | |
16 | g.50710729C= | CA2221859336 | NOD2 | c.737C= (p.Pro246=) c.818C= (p.Pro273=) n.878C= c.*1433C= (n.*1433C=) n.816C= c.314C= (p.Pro105=) c.152C= (p.Pro51=) n.827C= c.245C= (p.Pro82=) n.780C= n.802C= | |
16 | g.50710729C>G | CA395867636 | NOD2 | c.737C>G (p.Pro246Arg) c.818C>G (p.Pro273Arg) n.878C>G c.*1433C>G (n.*1433C>G) n.816C>G c.314C>G (p.Pro105Arg) c.152C>G (p.Pro51Arg) n.827C>G c.245C>G (p.Pro82Arg) n.780C>G n.802C>G | |
16 | g.50710729C>T | CA395867635 | NOD2 | c.737C>T (p.Pro246Leu) c.818C>T (p.Pro273Leu) n.878C>T c.*1433C>T (n.*1433C>T) n.816C>T c.314C>T (p.Pro105Leu) c.152C>T (p.Pro51Leu) n.827C>T c.245C>T (p.Pro82Leu) n.780C>T n.802C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50710730A>C | CA495455414 | NOD2 | c.738A>C (p.Pro246=) c.819A>C (p.Pro273=) n.879A>C c.*1434A>C (n.*1434A>C) n.817A>C c.315A>C (p.Pro105=) c.153A>C (p.Pro51=) n.828A>C c.246A>C (p.Pro82=) n.781A>C n.803A>C | |
16 | g.50710730A>G | CA495455418 | NOD2 | c.738A>G (p.Pro246=) c.819A>G (p.Pro273=) n.879A>G c.*1434A>G (n.*1434A>G) n.817A>G c.315A>G (p.Pro105=) c.153A>G (p.Pro51=) n.828A>G c.246A>G (p.Pro82=) n.781A>G n.803A>G | |
16 | g.50710730A>T | CA495455425 | NOD2 | c.738A>T (p.Pro246=) c.819A>T (p.Pro273=) n.879A>T c.*1434A>T (n.*1434A>T) n.817A>T c.315A>T (p.Pro105=) c.153A>T (p.Pro51=) n.828A>T c.246A>T (p.Pro82=) n.781A>T n.803A>T | |
16 | g.50710731G>A | CA395867637 | NOD2 | c.739G>A (p.Ala247Thr) c.820G>A (p.Ala274Thr) n.880G>A c.*1435G>A (n.*1435G>A) n.818G>A c.316G>A (p.Ala106Thr) c.154G>A (p.Ala52Thr) n.829G>A c.247G>A (p.Ala83Thr) n.782G>A n.804G>A | |
16 | g.50710731G>C | CA395867638 | NOD2 | c.739G>C (p.Ala247Pro) c.820G>C (p.Ala274Pro) n.880G>C c.*1435G>C (n.*1435G>C) n.818G>C c.316G>C (p.Ala106Pro) c.154G>C (p.Ala52Pro) n.829G>C c.247G>C (p.Ala83Pro) n.782G>C n.804G>C | |
16 | g.50710731G>T | CA395867639 | NOD2 | c.739G>T (p.Ala247Ser) c.820G>T (p.Ala274Ser) n.880G>T c.*1435G>T (n.*1435G>T) n.818G>T c.316G>T (p.Ala106Ser) c.154G>T (p.Ala52Ser) n.829G>T c.247G>T (p.Ala83Ser) n.782G>T n.804G>T | |
16 | g.50710732C>A | CA395867640 | NOD2 | c.740C>A (p.Ala247Asp) c.821C>A (p.Ala274Asp) n.881C>A c.*1436C>A (n.*1436C>A) n.819C>A c.317C>A (p.Ala106Asp) c.155C>A (p.Ala52Asp) n.830C>A c.248C>A (p.Ala83Asp) n.783C>A n.805C>A | gnomAD v4 |
16 | g.50710732C>G | CA395867641 | NOD2 | c.740C>G (p.Ala247Gly) c.821C>G (p.Ala274Gly) n.881C>G c.*1436C>G (n.*1436C>G) n.819C>G c.317C>G (p.Ala106Gly) c.155C>G (p.Ala52Gly) n.830C>G c.248C>G (p.Ala83Gly) n.783C>G n.805C>G | |
16 | g.50710732C>T | CA395867642 | NOD2 | c.740C>T (p.Ala247Val) c.821C>T (p.Ala274Val) n.881C>T c.*1436C>T (n.*1436C>T) n.819C>T c.317C>T (p.Ala106Val) c.155C>T (p.Ala52Val) n.830C>T c.248C>T (p.Ala83Val) n.783C>T n.805C>T | gnomAD v4 COSMIC |
16 | g.50710733C>A | CA495455440 | NOD2 | c.741C>A (p.Ala247=) c.822C>A (p.Ala274=) n.882C>A c.*1437C>A (n.*1437C>A) n.820C>A c.318C>A (p.Ala106=) c.156C>A (p.Ala52=) n.831C>A c.249C>A (p.Ala83=) n.784C>A n.806C>A | |
16 | g.50710733C= | CA2221859339 | NOD2 | c.741C= (p.Ala247=) c.822C= (p.Ala274=) n.882C= c.*1437C= (n.*1437C=) n.820C= c.318C= (p.Ala106=) c.156C= (p.Ala52=) n.831C= c.249C= (p.Ala83=) n.784C= n.806C= | |
16 | g.50710733C>G | CA495455444 | NOD2 | c.741C>G (p.Ala247=) c.822C>G (p.Ala274=) n.882C>G c.*1437C>G (n.*1437C>G) n.820C>G c.318C>G (p.Ala106=) c.156C>G (p.Ala52=) n.831C>G c.249C>G (p.Ala83=) n.784C>G n.806C>G | |
16 | g.50710733C>T | CA495455442 | NOD2 | c.741C>T (p.Ala247=) c.822C>T (p.Ala274=) n.882C>T c.*1437C>T (n.*1437C>T) n.820C>T c.318C>T (p.Ala106=) c.156C>T (p.Ala52=) n.831C>T c.249C>T (p.Ala83=) n.784C>T n.806C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50710734A= | CA2221859345 | NOD2 | c.742A= (p.Thr248=) c.823A= (p.Thr275=) n.883A= c.*1438A= (n.*1438A=) n.821A= c.319A= (p.Thr107=) c.157A= (p.Thr53=) n.832A= c.250A= (p.Thr84=) n.785A= n.807A= | |
16 | g.50710734A>C | CA395867643 | NOD2 | c.742A>C (p.Thr248Pro) c.823A>C (p.Thr275Pro) n.883A>C c.*1438A>C (n.*1438A>C) n.821A>C c.319A>C (p.Thr107Pro) c.157A>C (p.Thr53Pro) n.832A>C c.250A>C (p.Thr84Pro) n.785A>C n.807A>C | |
16 | g.50710734A>G | CA8051404 | NOD2 | c.742A>G (p.Thr248Ala) c.823A>G (p.Thr275Ala) n.883A>G c.*1438A>G (n.*1438A>G) n.821A>G c.319A>G (p.Thr107Ala) c.157A>G (p.Thr53Ala) n.832A>G c.250A>G (p.Thr84Ala) n.785A>G n.807A>G | dbSNP ExAC |
16 | g.50710734A>T | CA395867644 | NOD2 | c.742A>T (p.Thr248Ser) c.823A>T (p.Thr275Ser) n.883A>T c.*1438A>T (n.*1438A>T) n.821A>T c.319A>T (p.Thr107Ser) c.157A>T (p.Thr53Ser) n.832A>T c.250A>T (p.Thr84Ser) n.785A>T n.807A>T | |
16 | g.50710735C>A | CA395867645 | NOD2 | c.743C>A (p.Thr248Asn) c.824C>A (p.Thr275Asn) n.884C>A c.*1439C>A (n.*1439C>A) n.822C>A c.320C>A (p.Thr107Asn) c.158C>A (p.Thr53Asn) n.833C>A c.251C>A (p.Thr84Asn) n.786C>A n.808C>A | |
16 | g.50710735C>G | CA395867646 | NOD2 | c.743C>G (p.Thr248Ser) c.824C>G (p.Thr275Ser) n.884C>G c.*1439C>G (n.*1439C>G) n.822C>G c.320C>G (p.Thr107Ser) c.158C>G (p.Thr53Ser) n.833C>G c.251C>G (p.Thr84Ser) n.786C>G n.808C>G | |
16 | g.50710735C>T | CA395867647 | NOD2 | c.743C>T (p.Thr248Ile) c.824C>T (p.Thr275Ile) n.884C>T c.*1439C>T (n.*1439C>T) n.822C>T c.320C>T (p.Thr107Ile) c.158C>T (p.Thr53Ile) n.833C>T c.251C>T (p.Thr84Ile) n.786C>T n.808C>T | |
16 | g.50710736C>A | CA495455462 | NOD2 | c.744C>A (p.Thr248=) c.825C>A (p.Thr275=) n.885C>A c.*1440C>A (n.*1440C>A) n.823C>A c.321C>A (p.Thr107=) c.159C>A (p.Thr53=) n.834C>A c.252C>A (p.Thr84=) n.787C>A n.809C>A | |
16 | g.50710736C= | CA2221859350 | NOD2 | c.744C= (p.Thr248=) c.825C= (p.Thr275=) n.885C= c.*1440C= (n.*1440C=) n.823C= c.321C= (p.Thr107=) c.159C= (p.Thr53=) n.834C= c.252C= (p.Thr84=) n.787C= n.809C= | |
16 | g.50710736C>G | CA495455463 | NOD2 | c.744C>G (p.Thr248=) c.825C>G (p.Thr275=) n.885C>G c.*1440C>G (n.*1440C>G) n.823C>G c.321C>G (p.Thr107=) c.159C>G (p.Thr53=) n.834C>G c.252C>G (p.Thr84=) n.787C>G n.809C>G | |
16 | g.50710736C>T | CA8051405 | NOD2 | c.744C>T (p.Thr248=) c.825C>T (p.Thr275=) n.885C>T c.*1440C>T (n.*1440C>T) n.823C>T c.321C>T (p.Thr107=) c.159C>T (p.Thr53=) n.834C>T c.252C>T (p.Thr84=) n.787C>T n.809C>T | dbSNP ExAC gnomAD v4 |
16 | g.50710737C>A | CA395867648 | NOD2 | c.745C>A (p.Leu249Met) c.826C>A (p.Leu276Met) n.886C>A c.*1441C>A (n.*1441C>A) n.824C>A c.322C>A (p.Leu108Met) c.160C>A (p.Leu54Met) n.835C>A c.253C>A (p.Leu85Met) n.788C>A n.810C>A | |
16 | g.50710737C= | CA2221859357 | NOD2 | c.745C= (p.Leu249=) c.826C= (p.Leu276=) n.886C= c.*1441C= (n.*1441C=) n.824C= c.322C= (p.Leu108=) c.160C= (p.Leu54=) n.835C= c.253C= (p.Leu85=) n.788C= n.810C= | |
16 | g.50710737C>G | CA8051406 | NOD2 | c.745C>G (p.Leu249Val) c.826C>G (p.Leu276Val) n.886C>G c.*1441C>G (n.*1441C>G) n.824C>G c.322C>G (p.Leu108Val) c.160C>G (p.Leu54Val) n.835C>G c.253C>G (p.Leu85Val) n.788C>G n.810C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50710737C>T | CA495455471 | NOD2 | c.745C>T (p.Leu249=) c.826C>T (p.Leu276=) n.886C>T c.*1441C>T (n.*1441C>T) n.824C>T c.322C>T (p.Leu108=) c.160C>T (p.Leu54=) n.835C>T c.253C>T (p.Leu85=) n.788C>T n.810C>T | |
16 | g.50710738T>A | CA395867649 | NOD2 | c.746T>A (p.Leu249Gln) c.827T>A (p.Leu276Gln) n.887T>A c.*1442T>A (n.*1442T>A) n.825T>A c.323T>A (p.Leu108Gln) c.161T>A (p.Leu54Gln) n.836T>A c.254T>A (p.Leu85Gln) n.789T>A n.811T>A | |
16 | g.50710738T>C | CA395867650 | NOD2 | c.746T>C (p.Leu249Pro) c.827T>C (p.Leu276Pro) n.887T>C c.*1442T>C (n.*1442T>C) n.825T>C c.323T>C (p.Leu108Pro) c.161T>C (p.Leu54Pro) n.836T>C c.254T>C (p.Leu85Pro) n.789T>C n.811T>C | |
16 | g.50710738T>G | CA395867651 | NOD2 | c.746T>G (p.Leu249Arg) c.827T>G (p.Leu276Arg) n.887T>G c.*1442T>G (n.*1442T>G) n.825T>G c.323T>G (p.Leu108Arg) c.161T>G (p.Leu54Arg) n.836T>G c.254T>G (p.Leu85Arg) n.789T>G n.811T>G | |
16 | g.50710739G>A | CA8051407 | NOD2 | c.747G>A (p.Leu249=) c.828G>A (p.Leu276=) n.888G>A c.*1443G>A (n.*1443G>A) n.826G>A c.324G>A (p.Leu108=) c.162G>A (p.Leu54=) n.837G>A c.255G>A (p.Leu85=) n.790G>A n.812G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50710739G>C | CA495455486 | NOD2 | c.747G>C (p.Leu249=) c.828G>C (p.Leu276=) n.888G>C c.*1443G>C (n.*1443G>C) n.826G>C c.324G>C (p.Leu108=) c.162G>C (p.Leu54=) n.837G>C c.255G>C (p.Leu85=) n.790G>C n.812G>C | |
16 | g.50710739G= | CA2221859369 | NOD2 | c.747G= (p.Leu249=) c.828G= (p.Leu276=) n.888G= c.*1443G= (n.*1443G=) n.826G= c.324G= (p.Leu108=) c.162G= (p.Leu54=) n.837G= c.255G= (p.Leu85=) n.790G= n.812G= | |
16 | g.50710739G>T | CA495455488 | NOD2 | c.747G>T (p.Leu249=) c.828G>T (p.Leu276=) n.888G>T c.*1443G>T (n.*1443G>T) n.826G>T c.324G>T (p.Leu108=) c.162G>T (p.Leu54=) n.837G>T c.255G>T (p.Leu85=) n.790G>T n.812G>T | |
16 | g.50710740G>A | CA395867652 | NOD2 | c.748G>A (p.Gly250Ser) c.829G>A (p.Gly277Ser) n.889G>A c.*1444G>A (n.*1444G>A) n.827G>A c.325G>A (p.Gly109Ser) c.163G>A (p.Gly55Ser) n.838G>A c.256G>A (p.Gly86Ser) n.791G>A n.813G>A | |
16 | g.50710740G>C | CA395867653 | NOD2 | c.748G>C (p.Gly250Arg) c.829G>C (p.Gly277Arg) n.889G>C c.*1444G>C (n.*1444G>C) n.827G>C c.325G>C (p.Gly109Arg) c.163G>C (p.Gly55Arg) n.838G>C c.256G>C (p.Gly86Arg) n.791G>C n.813G>C | |
16 | g.50710740G>T | CA395867654 | NOD2 | c.748G>T (p.Gly250Cys) c.829G>T (p.Gly277Cys) n.889G>T c.*1444G>T (n.*1444G>T) n.827G>T c.325G>T (p.Gly109Cys) c.163G>T (p.Gly55Cys) n.838G>T c.256G>T (p.Gly86Cys) n.791G>T n.813G>T | |
16 | g.50710741G>A | CA395867655 | NOD2 | c.749G>A (p.Gly250Asp) c.830G>A (p.Gly277Asp) n.890G>A c.*1445G>A (n.*1445G>A) n.828G>A c.326G>A (p.Gly109Asp) c.164G>A (p.Gly55Asp) n.839G>A c.257G>A (p.Gly86Asp) n.792G>A n.814G>A | ClinVar dbSNP |
16 | g.50710741G>C | CA395867656 | NOD2 | c.749G>C (p.Gly250Ala) c.830G>C (p.Gly277Ala) n.890G>C c.*1445G>C (n.*1445G>C) n.828G>C c.326G>C (p.Gly109Ala) c.164G>C (p.Gly55Ala) n.839G>C c.257G>C (p.Gly86Ala) n.792G>C n.814G>C | |
16 | g.50710741G= | CA2221859381 | NOD2 | c.749G= (p.Gly250=) c.830G= (p.Gly277=) n.890G= c.*1445G= (n.*1445G=) n.828G= c.326G= (p.Gly109=) c.164G= (p.Gly55=) n.839G= c.257G= (p.Gly86=) n.792G= n.814G= | |
16 | g.50710741G>T | CA395867657 | NOD2 | c.749G>T (p.Gly250Val) c.830G>T (p.Gly277Val) n.890G>T c.*1445G>T (n.*1445G>T) n.828G>T c.326G>T (p.Gly109Val) c.164G>T (p.Gly55Val) n.839G>T c.257G>T (p.Gly86Val) n.792G>T n.814G>T | dbSNP gnomAD v2 COSMIC |
16 | g.50710742C>A | CA495455524 | NOD2 | c.750C>A (p.Gly250=) c.831C>A (p.Gly277=) n.891C>A c.*1446C>A (n.*1446C>A) n.829C>A c.327C>A (p.Gly109=) c.165C>A (p.Gly55=) n.840C>A c.258C>A (p.Gly86=) n.793C>A n.815C>A | |
16 | g.50710742C>G | CA495455511 | NOD2 | c.750C>G (p.Gly250=) c.831C>G (p.Gly277=) n.891C>G c.*1446C>G (n.*1446C>G) n.829C>G c.327C>G (p.Gly109=) c.165C>G (p.Gly55=) n.840C>G c.258C>G (p.Gly86=) n.793C>G n.815C>G | |
16 | g.50710742C>T | CA495455504 | NOD2 | c.750C>T (p.Gly250=) c.831C>T (p.Gly277=) n.891C>T c.*1446C>T (n.*1446C>T) n.829C>T c.327C>T (p.Gly109=) c.165C>T (p.Gly55=) n.840C>T c.258C>T (p.Gly86=) n.793C>T n.815C>T | |
16 | g.50710743C>A | CA395867658 | NOD2 | c.751C>A (p.Leu251Met) c.832C>A (p.Leu278Met) n.892C>A c.*1447C>A (n.*1447C>A) n.830C>A c.328C>A (p.Leu110Met) c.166C>A (p.Leu56Met) n.841C>A c.259C>A (p.Leu87Met) n.794C>A n.816C>A | |
16 | g.50710743C>G | CA395867659 | NOD2 | c.751C>G (p.Leu251Val) c.832C>G (p.Leu278Val) n.892C>G c.*1447C>G (n.*1447C>G) n.830C>G c.328C>G (p.Leu110Val) c.166C>G (p.Leu56Val) n.841C>G c.259C>G (p.Leu87Val) n.794C>G n.816C>G | |
16 | g.50710743C>T | CA495455530 | NOD2 | c.751C>T (p.Leu251=) c.832C>T (p.Leu278=) n.892C>T c.*1447C>T (n.*1447C>T) n.830C>T c.328C>T (p.Leu110=) c.166C>T (p.Leu56=) n.841C>T c.259C>T (p.Leu87=) n.794C>T n.816C>T | |
16 | g.50710744T>A | CA395867660 | NOD2 | c.752T>A (p.Leu251Gln) c.833T>A (p.Leu278Gln) n.893T>A c.*1448T>A (n.*1448T>A) n.831T>A c.329T>A (p.Leu110Gln) c.167T>A (p.Leu56Gln) n.842T>A c.260T>A (p.Leu87Gln) n.795T>A n.817T>A | |
16 | g.50710744T>C | CA395867662 | NOD2 | c.752T>C (p.Leu251Pro) c.833T>C (p.Leu278Pro) n.893T>C c.*1448T>C (n.*1448T>C) n.831T>C c.329T>C (p.Leu110Pro) c.167T>C (p.Leu56Pro) n.842T>C c.260T>C (p.Leu87Pro) n.795T>C n.817T>C | |
16 | g.50710744T>G | CA395867661 | NOD2 | c.752T>G (p.Leu251Arg) c.833T>G (p.Leu278Arg) n.893T>G c.*1448T>G (n.*1448T>G) n.831T>G c.329T>G (p.Leu110Arg) c.167T>G (p.Leu56Arg) n.842T>G c.260T>G (p.Leu87Arg) n.795T>G n.817T>G | |
16 | g.50710745G>A | CA281261542 | NOD2 | c.753G>A (p.Leu251=) c.834G>A (p.Leu278=) n.894G>A c.*1449G>A (n.*1449G>A) n.832G>A c.330G>A (p.Leu110=) c.168G>A (p.Leu56=) n.843G>A c.261G>A (p.Leu87=) n.796G>A n.818G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50710745G>C | CA495455545 | NOD2 | c.753G>C (p.Leu251=) c.834G>C (p.Leu278=) n.894G>C c.*1449G>C (n.*1449G>C) n.832G>C c.330G>C (p.Leu110=) c.168G>C (p.Leu56=) n.843G>C c.261G>C (p.Leu87=) n.796G>C n.818G>C | |
16 | g.50710745G= | CA2221859385 | NOD2 | c.753G= (p.Leu251=) c.834G= (p.Leu278=) n.894G= c.*1449G= (n.*1449G=) n.832G= c.330G= (p.Leu110=) c.168G= (p.Leu56=) n.843G= c.261G= (p.Leu87=) n.796G= n.818G= | |
16 | g.50710745G>T | CA495455550 | NOD2 | c.753G>T (p.Leu251=) c.834G>T (p.Leu278=) n.894G>T c.*1449G>T (n.*1449G>T) n.832G>T c.330G>T (p.Leu110=) c.168G>T (p.Leu56=) n.843G>T c.261G>T (p.Leu87=) n.796G>T n.818G>T | |
16 | g.50710746G>A | CA395867663 | NOD2 | c.754G>A (p.Glu252Lys) c.835G>A (p.Glu279Lys) n.895G>A c.*1450G>A (n.*1450G>A) n.833G>A c.331G>A (p.Glu111Lys) c.169G>A (p.Glu57Lys) n.844G>A c.262G>A (p.Glu88Lys) n.797G>A n.819G>A | |
16 | g.50710746G>C | CA395867664 | NOD2 | c.754G>C (p.Glu252Gln) c.835G>C (p.Glu279Gln) n.895G>C c.*1450G>C (n.*1450G>C) n.833G>C c.331G>C (p.Glu111Gln) c.169G>C (p.Glu57Gln) n.844G>C c.262G>C (p.Glu88Gln) n.797G>C n.819G>C | COSMIC |
16 | g.50710746G>T | CA395867665 | NOD2 | c.754G>T (p.Glu252Ter) c.835G>T (p.Glu279Ter) n.895G>T c.*1450G>T (n.*1450G>T) n.833G>T c.331G>T (p.Glu111Ter) c.169G>T (p.Glu57Ter) n.844G>T c.262G>T (p.Glu88Ter) n.797G>T n.819G>T | |
16 | g.50710747A= | CA2221859393 | NOD2 | c.755A= (p.Glu252=) c.836A= (p.Glu279=) n.896A= c.*1451A= (n.*1451A=) n.834A= c.332A= (p.Glu111=) c.170A= (p.Glu57=) n.845A= c.263A= (p.Glu88=) n.798A= n.820A= | |
16 | g.50710747A>C | CA8051408 | NOD2 | c.755A>C (p.Glu252Ala) c.836A>C (p.Glu279Ala) n.896A>C c.*1451A>C (n.*1451A>C) n.834A>C c.332A>C (p.Glu111Ala) c.170A>C (p.Glu57Ala) n.845A>C c.263A>C (p.Glu88Ala) n.798A>C n.820A>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.50710747A>G | CA395867666 | NOD2 | c.755A>G (p.Glu252Gly) c.836A>G (p.Glu279Gly) n.896A>G c.*1451A>G (n.*1451A>G) n.834A>G c.332A>G (p.Glu111Gly) c.170A>G (p.Glu57Gly) n.845A>G c.263A>G (p.Glu88Gly) n.798A>G n.820A>G | |
16 | g.50710747A>T | CA395867667 | NOD2 | c.755A>T (p.Glu252Val) c.836A>T (p.Glu279Val) n.896A>T c.*1451A>T (n.*1451A>T) n.834A>T c.332A>T (p.Glu111Val) c.170A>T (p.Glu57Val) n.845A>T c.263A>T (p.Glu88Val) n.798A>T n.820A>T | COSMIC |
16 | g.50710748G>A | CA495455566 | NOD2 | c.756G>A (p.Glu252=) c.837G>A (p.Glu279=) n.897G>A c.*1452G>A (n.*1452G>A) n.835G>A c.333G>A (p.Glu111=) c.171G>A (p.Glu57=) n.846G>A c.264G>A (p.Glu88=) n.799G>A n.821G>A | |
16 | g.50710748G>C | CA395867668 | NOD2 | c.756G>C (p.Glu252Asp) c.837G>C (p.Glu279Asp) n.897G>C c.*1452G>C (n.*1452G>C) n.835G>C c.333G>C (p.Glu111Asp) c.171G>C (p.Glu57Asp) n.846G>C c.264G>C (p.Glu88Asp) n.799G>C n.821G>C | |
16 | g.50710748G>T | CA395867669 | NOD2 | c.756G>T (p.Glu252Asp) c.837G>T (p.Glu279Asp) n.897G>T c.*1452G>T (n.*1452G>T) n.835G>T c.333G>T (p.Glu111Asp) c.171G>T (p.Glu57Asp) n.846G>T c.264G>T (p.Glu88Asp) n.799G>T n.821G>T | |
16 | g.50710749G>A | CA395867670 | NOD2 | c.757G>A (p.Glu253Lys) c.838G>A (p.Glu280Lys) n.898G>A c.*1453G>A (n.*1453G>A) n.836G>A c.334G>A (p.Glu112Lys) c.172G>A (p.Glu58Lys) n.847G>A c.265G>A (p.Glu89Lys) n.800G>A n.822G>A | |
16 | g.50710749G>C | CA395867671 | NOD2 | c.757G>C (p.Glu253Gln) c.838G>C (p.Glu280Gln) n.898G>C c.*1453G>C (n.*1453G>C) n.836G>C c.334G>C (p.Glu112Gln) c.172G>C (p.Glu58Gln) n.847G>C c.265G>C (p.Glu89Gln) n.800G>C n.822G>C | |
16 | g.50710749G>T | CA395867672 | NOD2 | c.757G>T (p.Glu253Ter) c.838G>T (p.Glu280Ter) n.898G>T c.*1453G>T (n.*1453G>T) n.836G>T c.334G>T (p.Glu112Ter) c.172G>T (p.Glu58Ter) n.847G>T c.265G>T (p.Glu89Ter) n.800G>T n.822G>T | |
16 | g.50710750A= | CA2221859396 | NOD2 | c.758A= (p.Glu253=) c.839A= (p.Glu280=) n.899A= c.*1454A= (n.*1454A=) n.837A= c.335A= (p.Glu112=) c.173A= (p.Glu58=) n.848A= c.266A= (p.Glu89=) n.801A= n.823A= | |
16 | g.50710750A>C | CA395867674 | NOD2 | c.758A>C (p.Glu253Ala) c.839A>C (p.Glu280Ala) n.899A>C c.*1454A>C (n.*1454A>C) n.837A>C c.335A>C (p.Glu112Ala) c.173A>C (p.Glu58Ala) n.848A>C c.266A>C (p.Glu89Ala) n.801A>C n.823A>C | |
16 | g.50710750A>G | CA281261558 | NOD2 | c.758A>G (p.Glu253Gly) c.839A>G (p.Glu280Gly) n.899A>G c.*1454A>G (n.*1454A>G) n.837A>G c.335A>G (p.Glu112Gly) c.173A>G (p.Glu58Gly) n.848A>G c.266A>G (p.Glu89Gly) n.801A>G n.823A>G | ClinVar dbSNP |
16 | g.50710750A>T | CA395867673 | NOD2 | c.758A>T (p.Glu253Val) c.839A>T (p.Glu280Val) n.899A>T c.*1454A>T (n.*1454A>T) n.837A>T c.335A>T (p.Glu112Val) c.173A>T (p.Glu58Val) n.848A>T c.266A>T (p.Glu89Val) n.801A>T n.823A>T | |
16 | g.50710751G>A | CA495455594 | NOD2 | c.759G>A (p.Glu253=) c.840G>A (p.Glu280=) n.900G>A c.*1455G>A (n.*1455G>A) n.838G>A c.336G>A (p.Glu112=) c.174G>A (p.Glu58=) n.849G>A c.267G>A (p.Glu89=) n.802G>A n.824G>A | |
16 | g.50710751G>C | CA395867675 | NOD2 | c.759G>C (p.Glu253Asp) c.840G>C (p.Glu280Asp) n.900G>C c.*1455G>C (n.*1455G>C) n.838G>C c.336G>C (p.Glu112Asp) c.174G>C (p.Glu58Asp) n.849G>C c.267G>C (p.Glu89Asp) n.802G>C n.824G>C | |
16 | g.50710751G>T | CA395867676 | NOD2 | c.759G>T (p.Glu253Asp) c.840G>T (p.Glu280Asp) n.900G>T c.*1455G>T (n.*1455G>T) n.838G>T c.336G>T (p.Glu112Asp) c.174G>T (p.Glu58Asp) n.849G>T c.267G>T (p.Glu89Asp) n.802G>T n.824G>T | |
16 | g.50710752C>A | CA395867677 | NOD2 | c.760C>A (p.Leu254Ile) c.841C>A (p.Leu281Ile) n.901C>A c.*1456C>A (n.*1456C>A) n.839C>A c.337C>A (p.Leu113Ile) c.175C>A (p.Leu59Ile) n.850C>A c.268C>A (p.Leu90Ile) n.803C>A n.825C>A | gnomAD v4 |
16 | g.50710752C= | CA2221859400 | NOD2 | c.760C= (p.Leu254=) c.841C= (p.Leu281=) n.901C= c.*1456C= (n.*1456C=) n.839C= c.337C= (p.Leu113=) c.175C= (p.Leu59=) n.850C= c.268C= (p.Leu90=) n.803C= n.825C= | |
16 | g.50710752C>G | CA395867678 | NOD2 | c.760C>G (p.Leu254Val) c.841C>G (p.Leu281Val) n.901C>G c.*1456C>G (n.*1456C>G) n.839C>G c.337C>G (p.Leu113Val) c.175C>G (p.Leu59Val) n.850C>G c.268C>G (p.Leu90Val) n.803C>G n.825C>G | |
16 | g.50710752C>T | CA8051409 | NOD2 | c.760C>T (p.Leu254Phe) c.841C>T (p.Leu281Phe) n.901C>T c.*1456C>T (n.*1456C>T) n.839C>T c.337C>T (p.Leu113Phe) c.175C>T (p.Leu59Phe) n.850C>T c.268C>T (p.Leu90Phe) n.803C>T n.825C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50710753T>A | CA395867679 | NOD2 | c.761T>A (p.Leu254His) c.842T>A (p.Leu281His) n.902T>A c.*1457T>A (n.*1457T>A) n.840T>A c.338T>A (p.Leu113His) c.176T>A (p.Leu59His) n.851T>A c.269T>A (p.Leu90His) n.804T>A n.826T>A | gnomAD v4 |
16 | g.50710753T>C | CA395867680 | NOD2 | c.761T>C (p.Leu254Pro) c.842T>C (p.Leu281Pro) n.902T>C c.*1457T>C (n.*1457T>C) n.840T>C c.338T>C (p.Leu113Pro) c.176T>C (p.Leu59Pro) n.851T>C c.269T>C (p.Leu90Pro) n.804T>C n.826T>C | |
16 | g.50710753T>G | CA395867681 | NOD2 | c.761T>G (p.Leu254Arg) c.842T>G (p.Leu281Arg) n.902T>G c.*1457T>G (n.*1457T>G) n.840T>G c.338T>G (p.Leu113Arg) c.176T>G (p.Leu59Arg) n.851T>G c.269T>G (p.Leu90Arg) n.804T>G n.826T>G | |
16 | g.50710754C>A | CA495455626 | NOD2 | c.762C>A (p.Leu254=) c.843C>A (p.Leu281=) n.903C>A c.*1458C>A (n.*1458C>A) n.841C>A c.339C>A (p.Leu113=) c.177C>A (p.Leu59=) n.852C>A c.270C>A (p.Leu90=) n.805C>A n.827C>A | |
16 | g.50710754C= | CA2221859406 | NOD2 | c.762C= (p.Leu254=) c.843C= (p.Leu281=) n.903C= c.*1458C= (n.*1458C=) n.841C= c.339C= (p.Leu113=) c.177C= (p.Leu59=) n.852C= c.270C= (p.Leu90=) n.805C= n.827C= | |
16 | g.50710754C>G | CA495455638 | NOD2 | c.762C>G (p.Leu254=) c.843C>G (p.Leu281=) n.903C>G c.*1458C>G (n.*1458C>G) n.841C>G c.339C>G (p.Leu113=) c.177C>G (p.Leu59=) n.852C>G c.270C>G (p.Leu90=) n.805C>G n.827C>G | |
16 | g.50710754C>T | CA281261574 | NOD2 | c.762C>T (p.Leu254=) c.843C>T (p.Leu281=) n.903C>T c.*1458C>T (n.*1458C>T) n.841C>T c.339C>T (p.Leu113=) c.177C>T (p.Leu59=) n.852C>T c.270C>T (p.Leu90=) n.805C>T n.827C>T | dbSNP |
16 | g.50710755T>A | CA395867682 | NOD2 | c.763T>A (p.Phe255Ile) c.844T>A (p.Phe282Ile) n.904T>A c.*1459T>A (n.*1459T>A) n.842T>A c.340T>A (p.Phe114Ile) c.178T>A (p.Phe60Ile) n.853T>A c.271T>A (p.Phe91Ile) n.806T>A n.828T>A | |
16 | g.50710755T>C | CA395867683 | NOD2 | c.763T>C (p.Phe255Leu) c.844T>C (p.Phe282Leu) n.904T>C c.*1459T>C (n.*1459T>C) n.842T>C c.340T>C (p.Phe114Leu) c.178T>C (p.Phe60Leu) n.853T>C c.271T>C (p.Phe91Leu) n.806T>C n.828T>C | |
16 | g.50710755T>G | CA395867684 | NOD2 | c.763T>G (p.Phe255Val) c.844T>G (p.Phe282Val) n.904T>G c.*1459T>G (n.*1459T>G) n.842T>G c.340T>G (p.Phe114Val) c.178T>G (p.Phe60Val) n.853T>G c.271T>G (p.Phe91Val) n.806T>G n.828T>G | |
16 | g.50710756T>A | CA395867686 | NOD2 | c.764T>A (p.Phe255Tyr) c.845T>A (p.Phe282Tyr) n.905T>A c.*1460T>A (n.*1460T>A) n.843T>A c.341T>A (p.Phe114Tyr) c.179T>A (p.Phe60Tyr) n.854T>A c.272T>A (p.Phe91Tyr) n.807T>A n.829T>A | |
16 | g.50710756T>C | CA395867687 | NOD2 | c.764T>C (p.Phe255Ser) c.845T>C (p.Phe282Ser) n.905T>C c.*1460T>C (n.*1460T>C) n.843T>C c.341T>C (p.Phe114Ser) c.179T>C (p.Phe60Ser) n.854T>C c.272T>C (p.Phe91Ser) n.807T>C n.829T>C | |
16 | g.50710756T>G | CA395867685 | NOD2 | c.764T>G (p.Phe255Cys) c.845T>G (p.Phe282Cys) n.905T>G c.*1460T>G (n.*1460T>G) n.843T>G c.341T>G (p.Phe114Cys) c.179T>G (p.Phe60Cys) n.854T>G c.272T>G (p.Phe91Cys) n.807T>G n.829T>G | |
16 | g.50710757C>A | CA395867688 | NOD2 | c.765C>A (p.Phe255Leu) c.846C>A (p.Phe282Leu) n.906C>A c.*1461C>A (n.*1461C>A) n.844C>A c.342C>A (p.Phe114Leu) c.180C>A (p.Phe60Leu) n.855C>A c.273C>A (p.Phe91Leu) n.808C>A n.830C>A | |
16 | g.50710757C= | CA2221859413 | NOD2 | c.765C= (p.Phe255=) c.846C= (p.Phe282=) n.906C= c.*1461C= (n.*1461C=) n.844C= c.342C= (p.Phe114=) c.180C= (p.Phe60=) n.855C= c.273C= (p.Phe91=) n.808C= n.830C= | |
16 | g.50710757C>G | CA395867689 | NOD2 | c.765C>G (p.Phe255Leu) c.846C>G (p.Phe282Leu) n.906C>G c.*1461C>G (n.*1461C>G) n.844C>G c.342C>G (p.Phe114Leu) c.180C>G (p.Phe60Leu) n.855C>G c.273C>G (p.Phe91Leu) n.808C>G n.830C>G | |
16 | g.50710757C>T | CA8051410 | NOD2 | c.765C>T (p.Phe255=) c.846C>T (p.Phe282=) n.906C>T c.*1461C>T (n.*1461C>T) n.844C>T c.342C>T (p.Phe114=) c.180C>T (p.Phe60=) n.855C>T c.273C>T (p.Phe91=) n.808C>T n.830C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50710758A>C | CA395867690 | NOD2 | c.766A>C (p.Ser256Arg) c.847A>C (p.Ser283Arg) n.907A>C c.*1462A>C (n.*1462A>C) n.845A>C c.343A>C (p.Ser115Arg) c.181A>C (p.Ser61Arg) n.856A>C c.274A>C (p.Ser92Arg) n.809A>C n.831A>C | |
16 | g.50710758A>G | CA395867691 | NOD2 | c.766A>G (p.Ser256Gly) c.847A>G (p.Ser283Gly) n.907A>G c.*1462A>G (n.*1462A>G) n.845A>G c.343A>G (p.Ser115Gly) c.181A>G (p.Ser61Gly) n.856A>G c.274A>G (p.Ser92Gly) n.809A>G n.831A>G | |
16 | g.50710758A>T | CA395867692 | NOD2 | c.766A>T (p.Ser256Cys) c.847A>T (p.Ser283Cys) n.907A>T c.*1462A>T (n.*1462A>T) n.845A>T c.343A>T (p.Ser115Cys) c.181A>T (p.Ser61Cys) n.856A>T c.274A>T (p.Ser92Cys) n.809A>T n.831A>T | |
16 | g.50710759G>A | CA395867695 | NOD2 | c.767G>A (p.Ser256Asn) c.848G>A (p.Ser283Asn) n.908G>A c.*1463G>A (n.*1463G>A) n.846G>A c.344G>A (p.Ser115Asn) c.182G>A (p.Ser61Asn) n.857G>A c.275G>A (p.Ser92Asn) n.810G>A n.832G>A | |
16 | g.50710759G>C | CA395867693 | NOD2 | c.767G>C (p.Ser256Thr) c.848G>C (p.Ser283Thr) n.908G>C c.*1463G>C (n.*1463G>C) n.846G>C c.344G>C (p.Ser115Thr) c.182G>C (p.Ser61Thr) n.857G>C c.275G>C (p.Ser92Thr) n.810G>C n.832G>C | |
16 | g.50710759G>T | CA395867694 | NOD2 | c.767G>T (p.Ser256Ile) c.848G>T (p.Ser283Ile) n.908G>T c.*1463G>T (n.*1463G>T) n.846G>T c.344G>T (p.Ser115Ile) c.182G>T (p.Ser61Ile) n.857G>T c.275G>T (p.Ser92Ile) n.810G>T n.832G>T | |
16 | g.50710760C>A | CA395867696 | NOD2 | c.768C>A (p.Ser256Arg) c.849C>A (p.Ser283Arg) n.909C>A c.*1464C>A (n.*1464C>A) n.847C>A c.345C>A (p.Ser115Arg) c.183C>A (p.Ser61Arg) n.858C>A c.276C>A (p.Ser92Arg) n.811C>A n.833C>A | |
16 | g.50710760C= | CA2221859415 | NOD2 | c.768C= (p.Ser256=) c.849C= (p.Ser283=) n.909C= c.*1464C= (n.*1464C=) n.847C= c.345C= (p.Ser115=) c.183C= (p.Ser61=) n.858C= c.276C= (p.Ser92=) n.811C= n.833C= | |
16 | g.50710760C>G | CA395867697 | NOD2 | c.768C>G (p.Ser256Arg) c.849C>G (p.Ser283Arg) n.909C>G c.*1464C>G (n.*1464C>G) n.847C>G c.345C>G (p.Ser115Arg) c.183C>G (p.Ser61Arg) n.858C>G c.276C>G (p.Ser92Arg) n.811C>G n.833C>G | |
16 | g.50710760C>T | CA495455692 | NOD2 | c.768C>T (p.Ser256=) c.849C>T (p.Ser283=) n.909C>T c.*1464C>T (n.*1464C>T) n.847C>T c.345C>T (p.Ser115=) c.183C>T (p.Ser61=) n.858C>T c.276C>T (p.Ser92=) n.811C>T n.833C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50710761A= | CA2221859421 | NOD2 | c.769A= (p.Thr257=) c.850A= (p.Thr284=) n.910A= c.*1465A= (n.*1465A=) n.848A= c.346A= (p.Thr116=) c.184A= (p.Thr62=) n.859A= c.277A= (p.Thr93=) n.812A= n.834A= | |
16 | g.50710761A>C | CA395867698 | NOD2 | c.769A>C (p.Thr257Pro) c.850A>C (p.Thr284Pro) n.910A>C c.*1465A>C (n.*1465A>C) n.848A>C c.346A>C (p.Thr116Pro) c.184A>C (p.Thr62Pro) n.859A>C c.277A>C (p.Thr93Pro) n.812A>C n.834A>C | |
16 | g.50710761A>G | CA8051411 | NOD2 | c.769A>G (p.Thr257Ala) c.850A>G (p.Thr284Ala) n.910A>G c.*1465A>G (n.*1465A>G) n.848A>G c.346A>G (p.Thr116Ala) c.184A>G (p.Thr62Ala) n.859A>G c.277A>G (p.Thr93Ala) n.812A>G n.834A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50710761A>T | CA395867699 | NOD2 | c.769A>T (p.Thr257Ser) c.850A>T (p.Thr284Ser) n.910A>T c.*1465A>T (n.*1465A>T) n.848A>T c.346A>T (p.Thr116Ser) c.184A>T (p.Thr62Ser) n.859A>T c.277A>T (p.Thr93Ser) n.812A>T n.834A>T | |
16 | g.50710762C>A | CA395867700 | NOD2 | c.770C>A (p.Thr257Asn) c.851C>A (p.Thr284Asn) n.911C>A c.*1466C>A (n.*1466C>A) n.849C>A c.347C>A (p.Thr116Asn) c.185C>A (p.Thr62Asn) n.860C>A c.278C>A (p.Thr93Asn) n.813C>A n.835C>A | |
16 | g.50710762C= | CA2221859422 | NOD2 | c.770C= (p.Thr257=) c.851C= (p.Thr284=) n.911C= c.*1466C= (n.*1466C=) n.849C= c.347C= (p.Thr116=) c.185C= (p.Thr62=) n.860C= c.278C= (p.Thr93=) n.813C= n.835C= | |
16 | g.50710762C>G | CA395867702 | NOD2 | c.770C>G (p.Thr257Ser) c.851C>G (p.Thr284Ser) n.911C>G c.*1466C>G (n.*1466C>G) n.849C>G c.347C>G (p.Thr116Ser) c.185C>G (p.Thr62Ser) n.860C>G c.278C>G (p.Thr93Ser) n.813C>G n.835C>G | |
16 | g.50710762C>T | CA395867701 | NOD2 | c.770C>T (p.Thr257Ile) c.851C>T (p.Thr284Ile) n.911C>T c.*1466C>T (n.*1466C>T) n.849C>T c.347C>T (p.Thr116Ile) c.185C>T (p.Thr62Ile) n.860C>T c.278C>T (p.Thr93Ile) n.813C>T n.835C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50710765del | CA2840529108 | NOD2 | c.773del (p.Pro258LeufsTer?) c.854del (p.Pro285LeufsTer?) n.914del c.*1469del (n.*1469del) n.852del c.350del (p.Pro117LeufsTer?) c.188del (p.Pro63LeufsTer?) n.863del c.281del (p.Pro94LeufsTer?) n.816del n.838del | |
16 | g.50710763C>A | CA495455717 | NOD2 | c.771C>A (p.Thr257=) c.852C>A (p.Thr284=) n.912C>A c.*1467C>A (n.*1467C>A) n.850C>A c.348C>A (p.Thr116=) c.186C>A (p.Thr62=) n.861C>A c.279C>A (p.Thr93=) n.814C>A n.836C>A | |
16 | g.50710763C>G | CA495455713 | NOD2 | c.771C>G (p.Thr257=) c.852C>G (p.Thr284=) n.912C>G c.*1467C>G (n.*1467C>G) n.850C>G c.348C>G (p.Thr116=) c.186C>G (p.Thr62=) n.861C>G c.279C>G (p.Thr93=) n.814C>G n.836C>G | |
16 | g.50710763C>T | CA495455710 | NOD2 | c.771C>T (p.Thr257=) c.852C>T (p.Thr284=) n.912C>T c.*1467C>T (n.*1467C>T) n.850C>T c.348C>T (p.Thr116=) c.186C>T (p.Thr62=) n.861C>T c.279C>T (p.Thr93=) n.814C>T n.836C>T | gnomAD v4 COSMIC |
16 | g.50710764C>A | CA395867703 | NOD2 | c.772C>A (p.Pro258Thr) c.853C>A (p.Pro285Thr) n.913C>A c.*1468C>A (n.*1468C>A) n.851C>A c.349C>A (p.Pro117Thr) c.187C>A (p.Pro63Thr) n.862C>A c.280C>A (p.Pro94Thr) n.815C>A n.837C>A | |
16 | g.50710764C= | CA2221859424 | NOD2 | c.772C= (p.Pro258=) c.853C= (p.Pro285=) n.913C= c.*1468C= (n.*1468C=) n.851C= c.349C= (p.Pro117=) c.187C= (p.Pro63=) n.862C= c.280C= (p.Pro94=) n.815C= n.837C= | |
16 | g.50710764C>G | CA395867704 | NOD2 | c.772C>G (p.Pro258Ala) c.853C>G (p.Pro285Ala) n.913C>G c.*1468C>G (n.*1468C>G) n.851C>G c.349C>G (p.Pro117Ala) c.187C>G (p.Pro63Ala) n.862C>G c.280C>G (p.Pro94Ala) n.815C>G n.837C>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50710764C>T | CA395867705 | NOD2 | c.772C>T (p.Pro258Ser) c.853C>T (p.Pro285Ser) n.913C>T c.*1468C>T (n.*1468C>T) n.851C>T c.349C>T (p.Pro117Ser) c.187C>T (p.Pro63Ser) n.862C>T c.280C>T (p.Pro94Ser) n.815C>T n.837C>T | gnomAD v4 |
16 | g.50710765C>A | CA395867706 | NOD2 | c.773C>A (p.Pro258His) c.854C>A (p.Pro285His) n.914C>A c.*1469C>A (n.*1469C>A) n.852C>A c.350C>A (p.Pro117His) c.188C>A (p.Pro63His) n.863C>A c.281C>A (p.Pro94His) n.816C>A n.838C>A | |
16 | g.50710765C= | CA2221859434 | NOD2 | c.773C= (p.Pro258=) c.854C= (p.Pro285=) n.914C= c.*1469C= (n.*1469C=) n.852C= c.350C= (p.Pro117=) c.188C= (p.Pro63=) n.863C= c.281C= (p.Pro94=) n.816C= n.838C= | |
16 | g.50710765C>G | CA395867707 | NOD2 | c.773C>G (p.Pro258Arg) c.854C>G (p.Pro285Arg) n.914C>G c.*1469C>G (n.*1469C>G) n.852C>G c.350C>G (p.Pro117Arg) c.188C>G (p.Pro63Arg) n.863C>G c.281C>G (p.Pro94Arg) n.816C>G n.838C>G | |
16 | g.50710765C>T | CA395867708 | NOD2 | c.773C>T (p.Pro258Leu) c.854C>T (p.Pro285Leu) n.914C>T c.*1469C>T (n.*1469C>T) n.852C>T c.350C>T (p.Pro117Leu) c.188C>T (p.Pro63Leu) n.863C>T c.281C>T (p.Pro94Leu) n.816C>T n.838C>T | dbSNP |
16 | g.50710766del | CA2633163796 | NOD2 | c.774del (p.Gly259AlafsTer?) c.855del (p.Gly286AlafsTer?) n.915del c.*1470del (n.*1470del) n.853del c.351del (p.Gly118AlafsTer?) c.189del (p.Gly64AlafsTer?) n.864del c.282del (p.Gly95AlafsTer?) n.817del n.839del | gnomAD v4 |
16 | g.50710766T>A | CA495455737 | NOD2 | c.774T>A (p.Pro258=) c.855T>A (p.Pro285=) n.915T>A c.*1470T>A (n.*1470T>A) n.853T>A c.351T>A (p.Pro117=) c.189T>A (p.Pro63=) n.864T>A c.282T>A (p.Pro94=) n.817T>A n.839T>A | |
16 | g.50710766T>C | CA495455740 | NOD2 | c.774T>C (p.Pro258=) c.855T>C (p.Pro285=) n.915T>C c.*1470T>C (n.*1470T>C) n.853T>C c.351T>C (p.Pro117=) c.189T>C (p.Pro63=) n.864T>C c.282T>C (p.Pro94=) n.817T>C n.839T>C | dbSNP |
16 | g.50710766T>G | CA495455743 | NOD2 | c.774T>G (p.Pro258=) c.855T>G (p.Pro285=) n.915T>G c.*1470T>G (n.*1470T>G) n.853T>G c.351T>G (p.Pro117=) c.189T>G (p.Pro63=) n.864T>G c.282T>G (p.Pro94=) n.817T>G n.839T>G | |
16 | g.50710767G>A | CA395867709 | NOD2 | c.775G>A (p.Gly259Ser) c.856G>A (p.Gly286Ser) n.916G>A c.*1471G>A (n.*1471G>A) n.854G>A c.352G>A (p.Gly118Ser) c.190G>A (p.Gly64Ser) n.865G>A c.283G>A (p.Gly95Ser) n.818G>A n.840G>A | |
16 | g.50710767G>C | CA395867710 | NOD2 | c.775G>C (p.Gly259Arg) c.856G>C (p.Gly286Arg) n.916G>C c.*1471G>C (n.*1471G>C) n.854G>C c.352G>C (p.Gly118Arg) c.190G>C (p.Gly64Arg) n.865G>C c.283G>C (p.Gly95Arg) n.818G>C n.840G>C | |
16 | g.50710767G>T | CA395867711 | NOD2 | c.775G>T (p.Gly259Cys) c.856G>T (p.Gly286Cys) n.916G>T c.*1471G>T (n.*1471G>T) n.854G>T c.352G>T (p.Gly118Cys) c.190G>T (p.Gly64Cys) n.865G>T c.283G>T (p.Gly95Cys) n.818G>T n.840G>T | |
16 | g.50710768G>A | CA395867712 | NOD2 | c.776G>A (p.Gly259Asp) c.857G>A (p.Gly286Asp) n.917G>A c.*1472G>A (n.*1472G>A) n.855G>A c.353G>A (p.Gly118Asp) c.191G>A (p.Gly64Asp) n.866G>A c.284G>A (p.Gly95Asp) n.819G>A n.841G>A | COSMIC |
16 | g.50710768G>C | CA395867713 | NOD2 | c.776G>C (p.Gly259Ala) c.857G>C (p.Gly286Ala) n.917G>C c.*1472G>C (n.*1472G>C) n.855G>C c.353G>C (p.Gly118Ala) c.191G>C (p.Gly64Ala) n.866G>C c.284G>C (p.Gly95Ala) n.819G>C n.841G>C | |
16 | g.50710768G>T | CA395867714 | NOD2 | c.776G>T (p.Gly259Val) c.857G>T (p.Gly286Val) n.917G>T c.*1472G>T (n.*1472G>T) n.855G>T c.353G>T (p.Gly118Val) c.191G>T (p.Gly64Val) n.866G>T c.284G>T (p.Gly95Val) n.819G>T n.841G>T | gnomAD v4 |
16 | g.50710769C>A | CA495455764 | NOD2 | c.777C>A (p.Gly259=) c.858C>A (p.Gly286=) n.918C>A c.*1473C>A (n.*1473C>A) n.856C>A c.354C>A (p.Gly118=) c.192C>A (p.Gly64=) n.867C>A c.285C>A (p.Gly95=) n.820C>A n.842C>A | |
16 | g.50710769C>G | CA495455766 | NOD2 | c.777C>G (p.Gly259=) c.858C>G (p.Gly286=) n.918C>G c.*1473C>G (n.*1473C>G) n.856C>G c.354C>G (p.Gly118=) c.192C>G (p.Gly64=) n.867C>G c.285C>G (p.Gly95=) n.820C>G n.842C>G | |
16 | g.50710769C>T | CA495455770 | NOD2 | c.777C>T (p.Gly259=) c.858C>T (p.Gly286=) n.918C>T c.*1473C>T (n.*1473C>T) n.856C>T c.354C>T (p.Gly118=) c.192C>T (p.Gly64=) n.867C>T c.285C>T (p.Gly95=) n.820C>T n.842C>T | |
16 | g.50710770C>A | CA395867715 | NOD2 | c.778C>A (p.His260Asn) c.859C>A (p.His287Asn) n.919C>A c.*1474C>A (n.*1474C>A) n.857C>A c.355C>A (p.His119Asn) c.193C>A (p.His65Asn) n.868C>A c.286C>A (p.His96Asn) n.821C>A n.843C>A | |
16 | g.50710770C= | CA2221859442 | NOD2 | c.778C= (p.His260=) c.859C= (p.His287=) n.919C= c.*1474C= (n.*1474C=) n.857C= c.355C= (p.His119=) c.193C= (p.His65=) n.868C= c.286C= (p.His96=) n.821C= n.843C= | |
16 | g.50710770C>G | CA395867716 | NOD2 | c.778C>G (p.His260Asp) c.859C>G (p.His287Asp) n.919C>G c.*1474C>G (n.*1474C>G) n.857C>G c.355C>G (p.His119Asp) c.193C>G (p.His65Asp) n.868C>G c.286C>G (p.His96Asp) n.821C>G n.843C>G | |
16 | g.50710770C>T | CA8051412 | NOD2 | c.778C>T (p.His260Tyr) c.859C>T (p.His287Tyr) n.919C>T c.*1474C>T (n.*1474C>T) n.857C>T c.355C>T (p.His119Tyr) c.193C>T (p.His65Tyr) n.868C>T c.286C>T (p.His96Tyr) n.821C>T n.843C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50710771A>C | CA395867717 | NOD2 | c.779A>C (p.His260Pro) c.860A>C (p.His287Pro) n.920A>C c.*1475A>C (n.*1475A>C) n.858A>C c.356A>C (p.His119Pro) c.194A>C (p.His65Pro) n.869A>C c.287A>C (p.His96Pro) n.822A>C n.844A>C | |
16 | g.50710771A>G | CA395867718 | NOD2 | c.779A>G (p.His260Arg) c.860A>G (p.His287Arg) n.920A>G c.*1475A>G (n.*1475A>G) n.858A>G c.356A>G (p.His119Arg) c.194A>G (p.His65Arg) n.869A>G c.287A>G (p.His96Arg) n.822A>G n.844A>G | gnomAD v4 |
16 | g.50710771A>T | CA395867719 | NOD2 | c.779A>T (p.His260Leu) c.860A>T (p.His287Leu) n.920A>T c.*1475A>T (n.*1475A>T) n.858A>T c.356A>T (p.His119Leu) c.194A>T (p.His65Leu) n.869A>T c.287A>T (p.His96Leu) n.822A>T n.844A>T | |
16 | g.50710771_50710772delinsAC | CA2221859450 | NOD2 | c.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 | |
16 | g.50710772C>A | CA395867720 | NOD2 | c.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 | |
16 | g.50710772C>G | CA395867721 | NOD2 | c.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 | |
16 | g.50710772C>T | CA495455801 | NOD2 | c.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 |
16 | g.50710773del | CA1139664678 | NOD2 | c.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 |
16 | g.50710773C>A | CA395867724 | NOD2 | c.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 | |
16 | g.50710773C= | CA2221859461 | NOD2 | c.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= | |
16 | g.50710773C>G | CA395867723 | NOD2 | c.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 |
16 | g.50710773C>T | CA395867722 | NOD2 | c.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 |
16 | g.50710774T>A | CA395867725 | NOD2 | c.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 | |
16 | g.50710774T>C | CA395867726 | NOD2 | c.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 |
16 | g.50710774T>G | CA395867727 | NOD2 | c.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 | |
16 | g.50710775C>A | CA495455822 | NOD2 | c.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 | |
16 | g.50710775C>G | CA495455826 | NOD2 | c.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 | |
16 | g.50710775C>T | CA495455828 | NOD2 | c.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 | |
16 | g.50710776A>C | CA395867728 | NOD2 | c.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 | |
16 | g.50710776A>G | CA395867729 | NOD2 | c.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 | |
16 | g.50710776A>T | CA395867730 | NOD2 | c.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 | |
16 | g.50710777A= | CA2221859465 | NOD2 | c.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= | |
16 | g.50710777A>C | CA395867731 | NOD2 | c.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 |
16 | g.50710777A>G | CA8051413 | NOD2 | c.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 |
16 | g.50710777A>T | CA395867732 | NOD2 | c.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 | |
16 | g.50710778T>A | CA395867733 | NOD2 | c.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 | |
16 | g.50710778T>C | CA495455850 | NOD2 | c.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 | |
16 | g.50710778T>G | CA395867734 | NOD2 | c.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 | |
16 | g.50710778_50710781dup | CA2633163808 | NOD2 | c.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 |
16 | g.50710779G>A | CA395867735 | NOD2 | c.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 | |
16 | g.50710779G>C | CA395867736 | NOD2 | c.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 | |
16 | g.50710779G>T | CA395867737 | NOD2 | c.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 | |
16 | g.50710780A>C | CA395867738 | NOD2 | c.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 | |
16 | g.50710780A>G | CA395867739 | NOD2 | c.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 | |
16 | g.50710780A>T | CA395867740 | NOD2 | c.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 |
16 | g.50710781C>A | CA395867741 | NOD2 | c.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 |
16 | g.50710781C= | CA2221859477 | NOD2 | c.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= | |
16 | g.50710781C>G | CA395867742 | NOD2 | c.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 |
16 | g.50710781C>T | CA8051414 | NOD2 | c.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 |
16 | g.50710782G>A | CA150345 | NOD2 | c.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 |
16 | g.50710782G>C | CA395867744 | NOD2 | c.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 | |
16 | g.50710782G= | CA2221859487 | NOD2 | c.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= | |
16 | g.50710782G>T | CA395867743 | NOD2 | c.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 |
16 | g.50710783A= | CA2221859493 | NOD2 | c.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= | |
16 | g.50710783A>C | CA395867745 | NOD2 | c.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 | |
16 | g.50710783A>G | CA8051415 | NOD2 | c.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 |
16 | g.50710783A>T | CA395867746 | NOD2 | c.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 | |
16 | g.50710784T>A | CA395867747 | NOD2 | c.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 | |
16 | g.50710784T>C | CA8051416 | NOD2 | c.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 |
16 | g.50710784T>G | CA395867748 | NOD2 | c.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 | |
16 | g.50710784T= | CA2221859496 | NOD2 | c.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= | |
16 | g.50710785G>A | CA395867749 | NOD2 | c.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 | |
16 | g.50710785G>C | CA395867750 | NOD2 | c.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 | |
16 | g.50710785G>T | CA395867751 | NOD2 | c.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 | |
16 | g.50710786C>A | CA395867752 | NOD2 | c.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 |
16 | g.50710786C= | CA2221859502 | NOD2 | c.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= | |
16 | g.50710786C>G | CA395867753 | NOD2 | c.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 |
16 | g.50710786C>T | CA8051417 | NOD2 | c.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 |
16 | g.50710787G>A | CA495778148 | NOD2 | c.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 |
16 | g.50710787G>C | CA495778149 | NOD2 | c.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 | |
16 | g.50710787G= | CA2221859512 | NOD2 | c.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= | |
16 | g.50710787G>T | CA495778150 | NOD2 | c.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 | |
16 | g.50710788G>A | CA395867754 | NOD2 | c.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 | |
16 | g.50710788G>C | CA395867755 | NOD2 | c.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 | |
16 | g.50710788G>T | CA395867756 | NOD2 | c.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 | |
16 | g.50710789A>C | CA395867759 | NOD2 | c.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 | |
16 | g.50710789A>G | CA395867757 | NOD2 | c.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 | |
16 | g.50710789A>T | CA395867758 | NOD2 | c.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 | |
16 | g.50710790C>A | CA395867760 | NOD2 | c.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 | |
16 | g.50710790C= | CA2221859521 | NOD2 | c.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= | |
16 | g.50710790C>G | CA395867761 | NOD2 | c.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 | |
16 | g.50710790C>T | CA495778154 | NOD2 | c.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 |
16 | g.50710790_50710791delinsCA | CA2221859525 | NOD2 | c.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 | |
16 | g.50710791del | CA2221859530 | NOD2 | c.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 |
16 | g.50710791A>C | CA395867762 | NOD2 | c.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 | |
16 | g.50710791A>G | CA395867763 | NOD2 | c.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 | |
16 | g.50710791A>T | CA395867764 | NOD2 | c.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 | |
16 | g.50710792C>A | CA395867765 | NOD2 | c.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 |
16 | g.50710792C= | CA2221859541 | NOD2 | c.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= | |
16 | g.50710792C>G | CA150348 | NOD2 | c.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 |
16 | g.50710792C>T | CA395867766 | NOD2 | c.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 |
16 | g.50710793T>A | CA495778159 | NOD2 | c.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 | |
16 | g.50710793T>C | CA495778160 | NOD2 | c.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 | |
16 | g.50710793T>G | CA495778161 | NOD2 | c.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 | |
16 | g.50710794G>A | CA8051418 | NOD2 | c.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 |
16 | g.50710794G>C | CA395867767 | NOD2 | c.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 | |
16 | g.50710794G= | CA2221859550 | NOD2 | c.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= | |
16 | g.50710794G>T | CA395867768 | NOD2 | c.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 | |
16 | g.50710795T>A | CA395867771 | NOD2 | c.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 | |
16 | g.50710795T>C | CA395867770 | NOD2 | c.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 | |
16 | g.50710795T>G | CA395867769 | NOD2 | c.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 | |
16 | g.50710796G>A | CA495778168 | NOD2 | c.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 | |
16 | g.50710796G>C | CA495778169 | NOD2 | c.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 |
16 | g.50710796G= | CA2221859555 | NOD2 | c.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= | |
16 | g.50710796G>T | CA495778170 | NOD2 | c.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 |
16 | g.50710797C>A | CA395867772 | NOD2 | c.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 | |
16 | g.50710797C>G | CA395867773 | NOD2 | c.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 | |
16 | g.50710797C>T | CA495778172 | NOD2 | c.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 |
16 | g.50710798T>A | CA395867774 | NOD2 | c.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 | |
16 | g.50710798T>C | CA395867775 | NOD2 | c.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 | |
16 | g.50710798T>G | CA395867776 | NOD2 | c.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 | |
16 | g.50710799G>A | CA495778176 | NOD2 | c.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 | |
16 | g.50710799G>C | CA281261679 | NOD2 | c.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 |
16 | g.50710799G= | CA2221859561 | NOD2 | c.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= | |
16 | g.50710799G>T | CA281261688 | NOD2 | c.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 |
16 | g.50710800G>A | CA395867777 | NOD2 | c.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 | |
16 | g.50710800G>C | CA395867778 | NOD2 | c.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 |
16 | g.50710800G>T | CA395867779 | NOD2 | c.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 | |
16 | g.50710801_50710802del | CA2807002537 | NOD2 | c.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 | |
16 | g.50710801T>A | CA395867780 | NOD2 | c.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 | |
16 | g.50710801T>C | CA395867781 | NOD2 | c.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 |
16 | g.50710801T>G | CA395867782 | NOD2 | c.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 | |
16 | g.50710801dup | CA2740093323 | NOD2 | c.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 |
16 | g.50710802G>A | CA495778180 | NOD2 | c.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 | |
16 | g.50710802G>C | CA495778182 | NOD2 | c.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 |
16 | g.50710802G>T | CA495778183 | NOD2 | c.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 | |
16 | g.50710803del | CA2838228018 | NOD2 | c.811del (p.Val271TrpfsTer?) c.892del (p.Val298TrpfsTer?) n.952del c.388del (p.Val130TrpfsTer?) c.226del (p.Val76TrpfsTer?) n.901del c.319del (p.Val107TrpfsTer?) n.854del n.876del | |
16 | g.50710803G>A | CA395867785 | NOD2 | c.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 |
16 | g.50710803G>C | CA395867784 | NOD2 | c.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 | |
16 | g.50710803G>T | CA395867783 | NOD2 | c.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 | |
16 | g.50710804T>A | CA395867786 | NOD2 | c.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 | |
16 | g.50710804T>C | CA395867787 | NOD2 | c.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 |
16 | g.50710804T>G | CA395867788 | NOD2 | c.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 | |
16 | g.50710805G>A | CA8051419 | NOD2 | c.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 |
16 | g.50710805G>C | CA495778185 | NOD2 | c.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 | |
16 | g.50710805G= | CA2221859564 | NOD2 | c.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= | |
16 | g.50710805G>T | CA495778184 | NOD2 | c.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 | |
16 | g.50710806G>A | CA395867789 | NOD2 | c.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 |
16 | g.50710806G>C | CA395867790 | NOD2 | c.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 | |
16 | g.50710806G= | CA2221859566 | NOD2 | c.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= | |
16 | g.50710806G>T | CA395867791 | NOD2 | c.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 | |
16 | g.50710807G>A | CA8051420 | NOD2 | c.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 |
16 | g.50710807G>C | CA395867792 | NOD2 | c.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 | |
16 | g.50710807G= | CA2221859571 | NOD2 | c.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= | |
16 | g.50710807G>T | CA395867793 | NOD2 | c.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 | |
16 | g.50710808T>A | CA495778190 | NOD2 | c.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 | |
16 | g.50710808T>C | CA495778189 | NOD2 | c.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 | |
16 | g.50710808T>G | CA495778188 | NOD2 | c.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 | |
16 | g.50710808_50710809insTT | CA2807002541 | NOD2 | c.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 | |
16 | g.50710809G>A | CA395867794 | NOD2 | c.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 | |
16 | g.50710809G>C | CA395867795 | NOD2 | c.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 | |
16 | g.50710809G= | CA2221859576 | NOD2 | c.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= | |
16 | g.50710809G>T | CA395867796 | NOD2 | c.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 |
16 | g.50710810A>C | CA395867798 | NOD2 | c.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 | |
16 | g.50710810A>G | CA395867799 | NOD2 | c.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 | |
16 | g.50710810A>T | CA395867797 | NOD2 | c.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 | |
16 | g.50710811G>A | CA495778192 | NOD2 | c.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 |
16 | g.50710811G>C | CA395867801 | NOD2 | c.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 | |
16 | g.50710811G>T | CA395867800 | NOD2 | c.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 | |
16 | g.50710812G>A | CA395867802 | NOD2 | c.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 |
16 | g.50710812G>C | CA395867803 | NOD2 | c.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 | |
16 | g.50710812G= | CA2221859582 | NOD2 | c.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= | |
16 | g.50710812G>T | CA395867804 | NOD2 | c.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 |
16 | g.50710813C>A | CA395867805 | NOD2 | c.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 | |
16 | g.50710813C= | CA2221859599 | NOD2 | c.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= | |
16 | g.50710813C>G | CA395867806 | NOD2 | c.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 | |
16 | g.50710813C>T | CA150351 | NOD2 | c.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 |
16 | g.50710814G>A | CA8051421 | NOD2 | c.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 |
16 | g.50710814G>C | CA495778195 | NOD2 | c.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 | |
16 | g.50710814G= | CA2221859608 | NOD2 | c.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= | |
16 | g.50710814G>T | CA495778196 | NOD2 | c.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 | |
16 | g.50710816del | CA2573152310 | NOD2 | c.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 |
16 | g.50710815G>A | CA395867807 | NOD2 | c.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 | |
16 | g.50710815G>C | CA395867808 | NOD2 | c.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 | |
16 | g.50710815G>T | CA395867809 | NOD2 | c.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 | |
16 | g.50710816G>A | CA395867810 | NOD2 | c.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 |
16 | g.50710816G>C | CA395867811 | NOD2 | c.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 | |
16 | g.50710816G>T | CA395867812 | NOD2 | c.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 | |
16 | g.50710817C>A | CA495778197 | NOD2 | c.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 | |
16 | g.50710817C>G | CA495778198 | NOD2 | c.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 | |
16 | g.50710817C>T | CA495778199 | NOD2 | c.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 |
16 | g.50710818A>C | CA395867813 | NOD2 | c.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 | |
16 | g.50710818A>G | CA395867815 | NOD2 | c.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 | |
16 | g.50710818A>T | CA395867814 | NOD2 | c.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 | |
16 | g.50710819G>A | CA395867816 | NOD2 | c.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 |
16 | g.50710819G>C | CA395867817 | NOD2 | c.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 | |
16 | g.50710819G>T | CA395867818 | NOD2 | c.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 | |
16 | g.50710820T>A | CA395867819 | NOD2 | c.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 | |
16 | g.50710820T>C | CA495778203 | NOD2 | c.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 | |
16 | g.50710820T>G | CA395867820 | NOD2 | c.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 |