Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.11787882A>C | CA338469501 | C1orf167,MTHFR | c.3197A>C (p.Glu1066Ala) c.3683A>C (p.Glu1228Ala) c.*2798T>G (n.*2798T>G) c.1833A>C c.4892T>G (n.4892T>G) c.3755A>C (p.Glu1252Ala) c.1182A>C c.1012A>C n.614A>C n.71A>C c.3818A>C (p.Glu1273Ala) c.3764A>C (p.Glu1255Ala) c.3410A>C (p.Glu1137Ala) c.2099A>C (p.Glu700Ala) | |
1 | g.11787882A>G | CA338469497 | C1orf167,MTHFR | c.3197A>G (p.Glu1066Gly) c.3683A>G (p.Glu1228Gly) c.*2798T>C (n.*2798T>C) c.1833A>G c.4892T>C (n.4892T>C) c.3755A>G (p.Glu1252Gly) c.1182A>G c.1012A>G n.614A>G n.71A>G c.3818A>G (p.Glu1273Gly) c.3764A>G (p.Glu1255Gly) c.3410A>G (p.Glu1137Gly) c.2099A>G (p.Glu700Gly) | |
1 | g.11787882A>T | CA338469499 | C1orf167,MTHFR | c.3197A>T (p.Glu1066Val) c.3683A>T (p.Glu1228Val) c.*2798T>A (n.*2798T>A) c.1833A>T c.4892T>A (n.4892T>A) c.3755A>T (p.Glu1252Val) c.1182A>T c.1012A>T n.614A>T n.71A>T c.3818A>T (p.Glu1273Val) c.3764A>T (p.Glu1255Val) c.3410A>T (p.Glu1137Val) c.2099A>T (p.Glu700Val) | |
1 | g.11787883A>C | CA338469504 | C1orf167,MTHFR | c.3198A>C (p.Glu1066Asp) c.3684A>C (p.Glu1228Asp) c.*2797T>G (n.*2797T>G) c.1834A>C c.4891T>G (n.4891T>G) c.3756A>C (p.Glu1252Asp) c.1183A>C c.1013A>C n.615A>C n.72A>C c.3819A>C (p.Glu1273Asp) c.3765A>C (p.Glu1255Asp) c.3411A>C (p.Glu1137Asp) c.2100A>C (p.Glu700Asp) | |
1 | g.11787883A>G | CA416361831 | C1orf167,MTHFR | c.3198A>G (p.Glu1066=) c.3684A>G (p.Glu1228=) c.*2797T>C (n.*2797T>C) c.1834A>G c.4891T>C (n.4891T>C) c.3756A>G (p.Glu1252=) c.1183A>G c.1013A>G n.615A>G n.72A>G c.3819A>G (p.Glu1273=) c.3765A>G (p.Glu1255=) c.3411A>G (p.Glu1137=) c.2100A>G (p.Glu700=) | gnomAD v4 |
1 | g.11787883A>T | CA338469506 | C1orf167,MTHFR | c.3198A>T (p.Glu1066Asp) c.3684A>T (p.Glu1228Asp) c.*2797T>A (n.*2797T>A) c.1834A>T c.4891T>A (n.4891T>A) c.3756A>T (p.Glu1252Asp) c.1183A>T c.1013A>T n.615A>T n.72A>T c.3819A>T (p.Glu1273Asp) c.3765A>T (p.Glu1255Asp) c.3411A>T (p.Glu1137Asp) c.2100A>T (p.Glu700Asp) | |
1 | g.11787884C>A | CA338469508 | C1orf167,MTHFR | c.3199C>A (p.His1067Asn) c.3685C>A (p.His1229Asn) c.*2796G>T (n.*2796G>T) c.1835C>A c.4890G>T (n.4890G>T) c.3757C>A (p.His1253Asn) c.1184C>A c.1014C>A n.616C>A n.73C>A c.3820C>A (p.His1274Asn) c.3766C>A (p.His1256Asn) c.3412C>A (p.His1138Asn) c.2101C>A (p.His701Asn) | gnomAD v4 |
1 | g.11787884C= | CA1153786392 | C1orf167,MTHFR | c.3199C= (p.His1067=) c.3685C= (p.His1229=) c.*2796G= (n.*2796G=) c.1835C= c.4890G= (n.4890G=) c.3757C= (p.His1253=) c.1184C= c.1014C= n.616C= n.73C= c.3820C= (p.His1274=) c.3766C= (p.His1256=) c.3412C= (p.His1138=) c.2101C= (p.His701=) | |
1 | g.11787884C>G | CA338469510 | C1orf167,MTHFR | c.3199C>G (p.His1067Asp) c.3685C>G (p.His1229Asp) c.*2796G>C (n.*2796G>C) c.1835C>G c.4890G>C (n.4890G>C) c.3757C>G (p.His1253Asp) c.1184C>G c.1014C>G n.616C>G n.73C>G c.3820C>G (p.His1274Asp) c.3766C>G (p.His1256Asp) c.3412C>G (p.His1138Asp) c.2101C>G (p.His701Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11787884C>T | CA338469512 | C1orf167,MTHFR | c.3199C>T (p.His1067Tyr) c.3685C>T (p.His1229Tyr) c.*2796G>A (n.*2796G>A) c.1835C>T c.4890G>A (n.4890G>A) c.3757C>T (p.His1253Tyr) c.1184C>T c.1014C>T n.616C>T n.73C>T c.3820C>T (p.His1274Tyr) c.3766C>T (p.His1256Tyr) c.3412C>T (p.His1138Tyr) c.2101C>T (p.His701Tyr) | |
1 | g.11787885A>C | CA338469519 | C1orf167,MTHFR | c.3200A>C (p.His1067Pro) c.3686A>C (p.His1229Pro) c.*2795T>G (n.*2795T>G) c.1836A>C c.4889T>G (n.4889T>G) c.3758A>C (p.His1253Pro) c.1185A>C c.1015A>C n.617A>C n.74A>C c.3821A>C (p.His1274Pro) c.3767A>C (p.His1256Pro) c.3413A>C (p.His1138Pro) c.2102A>C (p.His701Pro) | |
1 | g.11787885A>G | CA338469517 | C1orf167,MTHFR | c.3200A>G (p.His1067Arg) c.3686A>G (p.His1229Arg) c.*2795T>C (n.*2795T>C) c.1836A>G c.4889T>C (n.4889T>C) c.3758A>G (p.His1253Arg) c.1185A>G c.1015A>G n.617A>G n.74A>G c.3821A>G (p.His1274Arg) c.3767A>G (p.His1256Arg) c.3413A>G (p.His1138Arg) c.2102A>G (p.His701Arg) | |
1 | g.11787885A>T | CA338469515 | C1orf167,MTHFR | c.3200A>T (p.His1067Leu) c.3686A>T (p.His1229Leu) c.*2795T>A (n.*2795T>A) c.1836A>T c.4889T>A (n.4889T>A) c.3758A>T (p.His1253Leu) c.1185A>T c.1015A>T n.617A>T n.74A>T c.3821A>T (p.His1274Leu) c.3767A>T (p.His1256Leu) c.3413A>T (p.His1138Leu) c.2102A>T (p.His701Leu) | |
1 | g.11787886T>A | CA338469521 | C1orf167,MTHFR | c.3201T>A (p.His1067Gln) c.3687T>A (p.His1229Gln) c.*2794A>T (n.*2794A>T) c.1837T>A c.4888A>T (n.4888A>T) c.3759T>A (p.His1253Gln) c.1186T>A c.1016T>A n.618T>A n.75T>A c.3822T>A (p.His1274Gln) c.3768T>A (p.His1256Gln) c.3414T>A (p.His1138Gln) c.2103T>A (p.His701Gln) | |
1 | g.11787886T>C | CA416361833 | C1orf167,MTHFR | c.3201T>C (p.His1067=) c.3687T>C (p.His1229=) c.*2794A>G (n.*2794A>G) c.1837T>C c.4888A>G (n.4888A>G) c.3759T>C (p.His1253=) c.1186T>C c.1016T>C n.618T>C n.75T>C c.3822T>C (p.His1274=) c.3768T>C (p.His1256=) c.3414T>C (p.His1138=) c.2103T>C (p.His701=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11787886T>G | CA338469523 | C1orf167,MTHFR | c.3201T>G (p.His1067Gln) c.3687T>G (p.His1229Gln) c.*2794A>C (n.*2794A>C) c.1837T>G c.4888A>C (n.4888A>C) c.3759T>G (p.His1253Gln) c.1186T>G c.1016T>G n.618T>G n.75T>G c.3822T>G (p.His1274Gln) c.3768T>G (p.His1256Gln) c.3414T>G (p.His1138Gln) c.2103T>G (p.His701Gln) | |
1 | g.11787886T= | CA1153786395 | C1orf167,MTHFR | c.3201T= (p.His1067=) c.3687T= (p.His1229=) c.*2794A= (n.*2794A=) c.1837T= c.4888A= (n.4888A=) c.3759T= (p.His1253=) c.1186T= c.1016T= n.618T= n.75T= c.3822T= (p.His1274=) c.3768T= (p.His1256=) c.3414T= (p.His1138=) c.2103T= (p.His701=) | |
1 | g.11787887T>A | CA338469526 | C1orf167,MTHFR | c.3202T>A (p.Ser1068Thr) c.3688T>A (p.Ser1230Thr) c.*2793A>T (n.*2793A>T) c.1838T>A c.4887A>T (n.4887A>T) c.3760T>A (p.Ser1254Thr) c.1187T>A c.1017T>A n.619T>A n.76T>A c.3823T>A (p.Ser1275Thr) c.3769T>A (p.Ser1257Thr) c.3415T>A (p.Ser1139Thr) c.2104T>A (p.Ser702Thr) | |
1 | g.11787887T>C | CA338469527 | C1orf167,MTHFR | c.3202T>C (p.Ser1068Pro) c.3688T>C (p.Ser1230Pro) c.*2793A>G (n.*2793A>G) c.1838T>C c.4887A>G (n.4887A>G) c.3760T>C (p.Ser1254Pro) c.1187T>C c.1017T>C n.619T>C n.76T>C c.3823T>C (p.Ser1275Pro) c.3769T>C (p.Ser1257Pro) c.3415T>C (p.Ser1139Pro) c.2104T>C (p.Ser702Pro) | gnomAD v4 |
1 | g.11787887T>G | CA338469529 | C1orf167,MTHFR | c.3202T>G (p.Ser1068Ala) c.3688T>G (p.Ser1230Ala) c.*2793A>C (n.*2793A>C) c.1838T>G c.4887A>C (n.4887A>C) c.3760T>G (p.Ser1254Ala) c.1187T>G c.1017T>G n.619T>G n.76T>G c.3823T>G (p.Ser1275Ala) c.3769T>G (p.Ser1257Ala) c.3415T>G (p.Ser1139Ala) c.2104T>G (p.Ser702Ala) | |
1 | g.11787888C>A | CA338469532 | C1orf167,MTHFR | c.3203C>A (p.Ser1068Tyr) c.3689C>A (p.Ser1230Tyr) c.*2792G>T (n.*2792G>T) c.1839C>A c.4886G>T (n.4886G>T) c.3761C>A (p.Ser1254Tyr) c.1188C>A c.1018C>A n.620C>A n.77C>A c.3824C>A (p.Ser1275Tyr) c.3770C>A (p.Ser1257Tyr) c.3416C>A (p.Ser1139Tyr) c.2105C>A (p.Ser702Tyr) | gnomAD v4 |
1 | g.11787888C>G | CA338469534 | C1orf167,MTHFR | c.3203C>G (p.Ser1068Cys) c.3689C>G (p.Ser1230Cys) c.*2792G>C (n.*2792G>C) c.1839C>G c.4886G>C (n.4886G>C) c.3761C>G (p.Ser1254Cys) c.1188C>G c.1018C>G n.620C>G n.77C>G c.3824C>G (p.Ser1275Cys) c.3770C>G (p.Ser1257Cys) c.3416C>G (p.Ser1139Cys) c.2105C>G (p.Ser702Cys) | |
1 | g.11787888C>T | CA338469536 | C1orf167,MTHFR | c.3203C>T (p.Ser1068Phe) c.3689C>T (p.Ser1230Phe) c.*2792G>A (n.*2792G>A) c.1839C>T c.4886G>A (n.4886G>A) c.3761C>T (p.Ser1254Phe) c.1188C>T c.1018C>T n.620C>T n.77C>T c.3824C>T (p.Ser1275Phe) c.3770C>T (p.Ser1257Phe) c.3416C>T (p.Ser1139Phe) c.2105C>T (p.Ser702Phe) | gnomAD v4 |
1 | g.11787889C>A | CA416361837 | C1orf167,MTHFR | c.3204C>A (p.Ser1068=) c.3690C>A (p.Ser1230=) c.*2791G>T (n.*2791G>T) c.1840C>A c.4885G>T (n.4885G>T) c.3762C>A (p.Ser1254=) c.1189C>A c.1019C>A n.621C>A n.78C>A c.3825C>A (p.Ser1275=) c.3771C>A (p.Ser1257=) c.3417C>A (p.Ser1139=) c.2106C>A (p.Ser702=) | gnomAD v4 |
1 | g.11787889C>G | CA416361838 | C1orf167,MTHFR | c.3204C>G (p.Ser1068=) c.3690C>G (p.Ser1230=) c.*2791G>C (n.*2791G>C) c.1840C>G c.4885G>C (n.4885G>C) c.3762C>G (p.Ser1254=) c.1189C>G c.1019C>G n.621C>G n.78C>G c.3825C>G (p.Ser1275=) c.3771C>G (p.Ser1257=) c.3417C>G (p.Ser1139=) c.2106C>G (p.Ser702=) | |
1 | g.11787889C>T | CA416361840 | C1orf167,MTHFR | c.3204C>T (p.Ser1068=) c.3690C>T (p.Ser1230=) c.*2791G>A (n.*2791G>A) c.1840C>T c.4885G>A (n.4885G>A) c.3762C>T (p.Ser1254=) c.1189C>T c.1019C>T n.621C>T n.78C>T c.3825C>T (p.Ser1275=) c.3771C>T (p.Ser1257=) c.3417C>T (p.Ser1139=) c.2106C>T (p.Ser702=) | gnomAD v4 |
1 | g.11787890C>A | CA338469539 | C1orf167,MTHFR | c.3205C>A (p.Leu1069Ile) c.3691C>A (p.Leu1231Ile) c.*2790G>T (n.*2790G>T) c.1841C>A c.4884G>T (n.4884G>T) c.3763C>A (p.Leu1255Ile) c.1190C>A c.1020C>A n.622C>A n.79C>A c.3826C>A (p.Leu1276Ile) c.3772C>A (p.Leu1258Ile) c.3418C>A (p.Leu1140Ile) c.2107C>A (p.Leu703Ile) | gnomAD v4 |
1 | g.11787890C>G | CA338469540 | C1orf167,MTHFR | c.3205C>G (p.Leu1069Val) c.3691C>G (p.Leu1231Val) c.*2790G>C (n.*2790G>C) c.1841C>G c.4884G>C (n.4884G>C) c.3763C>G (p.Leu1255Val) c.1190C>G c.1020C>G n.622C>G n.79C>G c.3826C>G (p.Leu1276Val) c.3772C>G (p.Leu1258Val) c.3418C>G (p.Leu1140Val) c.2107C>G (p.Leu703Val) | |
1 | g.11787890C>T | CA338469542 | C1orf167,MTHFR | c.3205C>T (p.Leu1069Phe) c.3691C>T (p.Leu1231Phe) c.*2790G>A (n.*2790G>A) c.1841C>T c.4884G>A (n.4884G>A) c.3763C>T (p.Leu1255Phe) c.1190C>T c.1020C>T n.622C>T n.79C>T c.3826C>T (p.Leu1276Phe) c.3772C>T (p.Leu1258Phe) c.3418C>T (p.Leu1140Phe) c.2107C>T (p.Leu703Phe) | |
1 | g.11787891T>A | CA338469545 | C1orf167,MTHFR | c.3206T>A (p.Leu1069His) c.3692T>A (p.Leu1231His) c.*2789A>T (n.*2789A>T) c.1842T>A c.4883A>T (n.4883A>T) c.3764T>A (p.Leu1255His) c.1191T>A c.1021T>A n.623T>A n.80T>A c.3827T>A (p.Leu1276His) c.3773T>A (p.Leu1258His) c.3419T>A (p.Leu1140His) c.2108T>A (p.Leu703His) | |
1 | g.11787891T>C | CA338469547 | C1orf167,MTHFR | c.3206T>C (p.Leu1069Pro) c.3692T>C (p.Leu1231Pro) c.*2789A>G (n.*2789A>G) c.1842T>C c.4883A>G (n.4883A>G) c.3764T>C (p.Leu1255Pro) c.1191T>C c.1021T>C n.623T>C n.80T>C c.3827T>C (p.Leu1276Pro) c.3773T>C (p.Leu1258Pro) c.3419T>C (p.Leu1140Pro) c.2108T>C (p.Leu703Pro) | gnomAD v4 |
1 | g.11787891T>G | CA338469549 | C1orf167,MTHFR | c.3206T>G (p.Leu1069Arg) c.3692T>G (p.Leu1231Arg) c.*2789A>C (n.*2789A>C) c.1842T>G c.4883A>C (n.4883A>C) c.3764T>G (p.Leu1255Arg) c.1191T>G c.1021T>G n.623T>G n.80T>G c.3827T>G (p.Leu1276Arg) c.3773T>G (p.Leu1258Arg) c.3419T>G (p.Leu1140Arg) c.2108T>G (p.Leu703Arg) | |
1 | g.11787892C>A | CA416361845 | C1orf167,MTHFR | c.3207C>A (p.Leu1069=) c.3693C>A (p.Leu1231=) c.*2788G>T (n.*2788G>T) c.1843C>A c.4882G>T (n.4882G>T) c.3765C>A (p.Leu1255=) c.1192C>A c.1022C>A n.624C>A n.81C>A c.3828C>A (p.Leu1276=) c.3774C>A (p.Leu1258=) c.3420C>A (p.Leu1140=) c.2109C>A (p.Leu703=) | dbSNP gnomAD v4 |
1 | g.11787892C= | CA1153786398 | C1orf167,MTHFR | c.3207C= (p.Leu1069=) c.3693C= (p.Leu1231=) c.*2788G= (n.*2788G=) c.1843C= c.4882G= (n.4882G=) c.3765C= (p.Leu1255=) c.1192C= c.1022C= n.624C= n.81C= c.3828C= (p.Leu1276=) c.3774C= (p.Leu1258=) c.3420C= (p.Leu1140=) c.2109C= (p.Leu703=) | |
1 | g.11787892C>G | CA416361846 | C1orf167,MTHFR | c.3207C>G (p.Leu1069=) c.3693C>G (p.Leu1231=) c.*2788G>C (n.*2788G>C) c.1843C>G c.4882G>C (n.4882G>C) c.3765C>G (p.Leu1255=) c.1192C>G c.1022C>G n.624C>G n.81C>G c.3828C>G (p.Leu1276=) c.3774C>G (p.Leu1258=) c.3420C>G (p.Leu1140=) c.2109C>G (p.Leu703=) | |
1 | g.11787892C>T | CA17995915 | C1orf167,MTHFR | c.3207C>T (p.Leu1069=) c.3693C>T (p.Leu1231=) c.*2788G>A (n.*2788G>A) c.1843C>T c.4882G>A (n.4882G>A) c.3765C>T (p.Leu1255=) c.1192C>T c.1022C>T n.624C>T n.81C>T c.3828C>T (p.Leu1276=) c.3774C>T (p.Leu1258=) c.3420C>T (p.Leu1140=) c.2109C>T (p.Leu703=) | dbSNP |
1 | g.11787893T>A | CA338469556 | C1orf167,MTHFR | c.3208T>A (p.Cys1070Ser) c.3694T>A (p.Cys1232Ser) c.*2787A>T (n.*2787A>T) c.1844T>A c.4881A>T (n.4881A>T) c.3766T>A (p.Cys1256Ser) c.1193T>A c.1023T>A n.625T>A n.82T>A c.3829T>A (p.Cys1277Ser) c.3775T>A (p.Cys1259Ser) c.3421T>A (p.Cys1141Ser) c.2110T>A (p.Cys704Ser) | |
1 | g.11787893T>C | CA338469552 | C1orf167,MTHFR | c.3208T>C (p.Cys1070Arg) c.3694T>C (p.Cys1232Arg) c.*2787A>G (n.*2787A>G) c.1844T>C c.4881A>G (n.4881A>G) c.3766T>C (p.Cys1256Arg) c.1193T>C c.1023T>C n.625T>C n.82T>C c.3829T>C (p.Cys1277Arg) c.3775T>C (p.Cys1259Arg) c.3421T>C (p.Cys1141Arg) c.2110T>C (p.Cys704Arg) | gnomAD v4 |
1 | g.11787893T>G | CA338469554 | C1orf167,MTHFR | c.3208T>G (p.Cys1070Gly) c.3694T>G (p.Cys1232Gly) c.*2787A>C (n.*2787A>C) c.1844T>G c.4881A>C (n.4881A>C) c.3766T>G (p.Cys1256Gly) c.1193T>G c.1023T>G n.625T>G n.82T>G c.3829T>G (p.Cys1277Gly) c.3775T>G (p.Cys1259Gly) c.3421T>G (p.Cys1141Gly) c.2110T>G (p.Cys704Gly) | |
1 | g.11787894G>A | CA338469558 | C1orf167,MTHFR | c.3209G>A (p.Cys1070Tyr) c.3695G>A (p.Cys1232Tyr) c.*2786C>T (n.*2786C>T) c.1845G>A c.4880C>T (n.4880C>T) c.3767G>A (p.Cys1256Tyr) c.1194G>A c.1024G>A n.626G>A n.83G>A c.3830G>A (p.Cys1277Tyr) c.3776G>A (p.Cys1259Tyr) c.3422G>A (p.Cys1141Tyr) c.2111G>A (p.Cys704Tyr) | dbSNP gnomAD v4 |
1 | g.11787894G>C | CA338469560 | C1orf167,MTHFR | c.3209G>C (p.Cys1070Ser) c.3695G>C (p.Cys1232Ser) c.*2786C>G (n.*2786C>G) c.1845G>C c.4880C>G (n.4880C>G) c.3767G>C (p.Cys1256Ser) c.1194G>C c.1024G>C n.626G>C n.83G>C c.3830G>C (p.Cys1277Ser) c.3776G>C (p.Cys1259Ser) c.3422G>C (p.Cys1141Ser) c.2111G>C (p.Cys704Ser) | gnomAD v4 |
1 | g.11787894G= | CA1153786400 | C1orf167,MTHFR | c.3209G= (p.Cys1070=) c.3695G= (p.Cys1232=) c.*2786C= (n.*2786C=) c.1845G= c.4880C= (n.4880C=) c.3767G= (p.Cys1256=) c.1194G= c.1024G= n.626G= n.83G= c.3830G= (p.Cys1277=) c.3776G= (p.Cys1259=) c.3422G= (p.Cys1141=) c.2111G= (p.Cys704=) | |
1 | g.11787894G>T | CA338469562 | C1orf167,MTHFR | c.3209G>T (p.Cys1070Phe) c.3695G>T (p.Cys1232Phe) c.*2786C>A (n.*2786C>A) c.1845G>T c.4880C>A (n.4880C>A) c.3767G>T (p.Cys1256Phe) c.1194G>T c.1024G>T n.626G>T n.83G>T c.3830G>T (p.Cys1277Phe) c.3776G>T (p.Cys1259Phe) c.3422G>T (p.Cys1141Phe) c.2111G>T (p.Cys704Phe) | gnomAD v4 |
1 | g.11787894_11787895delinsGC | CA1153786402 | C1orf167,MTHFR | c.3209_3210delinsGC (p.Cys1070=) c.3695_3696delinsGC (p.Cys1232=) c.*2785_*2786delinsGC (n.*2785_*2786delinsGC) c.1845_1846delinsGC c.4879_4880delinsGC (n.4879_4880delinsGC) c.3767_3768delinsGC (p.Cys1256=) c.1194_1195delinsGC c.1024_1025delinsGC n.626_627delinsGC n.83_84delinsGC c.3830_3831delinsGC (p.Cys1277=) c.3776_3777delinsGC (p.Cys1259=) c.3422_3423delinsGC (p.Cys1141=) c.2111_2112delinsGC (p.Cys704=) | |
1 | g.11787895C>A | CA338469565 | C1orf167,MTHFR | c.3210C>A (p.Cys1070Ter) c.3696C>A (p.Cys1232Ter) c.*2785G>T (n.*2785G>T) c.1846C>A c.4879G>T (n.4879G>T) c.3768C>A (p.Cys1256Ter) c.1195C>A c.1025C>A n.627C>A n.84C>A c.3831C>A (p.Cys1277Ter) c.3777C>A (p.Cys1259Ter) c.3423C>A (p.Cys1141Ter) c.2112C>A (p.Cys704Ter) | gnomAD v4 |
1 | g.11787895C= | CA1153786405 | C1orf167,MTHFR | c.3210C= (p.Cys1070=) c.3696C= (p.Cys1232=) c.*2785G= (n.*2785G=) c.1846C= c.4879G= (n.4879G=) c.3768C= (p.Cys1256=) c.1195C= c.1025C= n.627C= n.84C= c.3831C= (p.Cys1277=) c.3777C= (p.Cys1259=) c.3423C= (p.Cys1141=) c.2112C= (p.Cys704=) | |
1 | g.11787895C>G | CA338469566 | C1orf167,MTHFR | c.3210C>G (p.Cys1070Trp) c.3696C>G (p.Cys1232Trp) c.*2785G>C (n.*2785G>C) c.1846C>G c.4879G>C (n.4879G>C) c.3768C>G (p.Cys1256Trp) c.1195C>G c.1025C>G n.627C>G n.84C>G c.3831C>G (p.Cys1277Trp) c.3777C>G (p.Cys1259Trp) c.3423C>G (p.Cys1141Trp) c.2112C>G (p.Cys704Trp) | |
1 | g.11787895C>T | CA416361850 | C1orf167,MTHFR | c.3210C>T (p.Cys1070=) c.3696C>T (p.Cys1232=) c.*2785G>A (n.*2785G>A) c.1846C>T c.4879G>A (n.4879G>A) c.3768C>T (p.Cys1256=) c.1195C>T c.1025C>T n.627C>T n.84C>T c.3831C>T (p.Cys1277=) c.3777C>T (p.Cys1259=) c.3423C>T (p.Cys1141=) c.2112C>T (p.Cys704=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11787897del | CA998627602 | C1orf167,MTHFR | c.3212del (p.Pro1071LeufsTer?) c.3698del (p.Pro1233LeufsTer?) c.*2785del (n.*2785del) c.1848del c.4879del (n.4879del) c.3770del (p.Pro1257LeufsTer?) c.1197del c.1027del n.629del n.86del c.3833del (p.Pro1278LeufsTer?) c.3779del (p.Pro1260LeufsTer?) c.3425del (p.Pro1142LeufsTer?) c.2114del (p.Pro705LeufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11787896C>A | CA338469569 | C1orf167,MTHFR | c.3211C>A (p.Pro1071Thr) c.3697C>A (p.Pro1233Thr) c.*2784G>T (n.*2784G>T) c.1847C>A c.4878G>T (n.4878G>T) c.3769C>A (p.Pro1257Thr) c.1196C>A c.1026C>A n.628C>A n.85C>A c.3832C>A (p.Pro1278Thr) c.3778C>A (p.Pro1260Thr) c.3424C>A (p.Pro1142Thr) c.2113C>A (p.Pro705Thr) | gnomAD v4 |
1 | g.11787896C>G | CA338469571 | C1orf167,MTHFR | c.3211C>G (p.Pro1071Ala) c.3697C>G (p.Pro1233Ala) c.*2784G>C (n.*2784G>C) c.1847C>G c.4878G>C (n.4878G>C) c.3769C>G (p.Pro1257Ala) c.1196C>G c.1026C>G n.628C>G n.85C>G c.3832C>G (p.Pro1278Ala) c.3778C>G (p.Pro1260Ala) c.3424C>G (p.Pro1142Ala) c.2113C>G (p.Pro705Ala) | |
1 | g.11787896C>T | CA338469572 | C1orf167,MTHFR | c.3211C>T (p.Pro1071Ser) c.3697C>T (p.Pro1233Ser) c.*2784G>A (n.*2784G>A) c.1847C>T c.4878G>A (n.4878G>A) c.3769C>T (p.Pro1257Ser) c.1196C>T c.1026C>T n.628C>T n.85C>T c.3832C>T (p.Pro1278Ser) c.3778C>T (p.Pro1260Ser) c.3424C>T (p.Pro1142Ser) c.2113C>T (p.Pro705Ser) | |
1 | g.11787897C>A | CA338469575 | C1orf167,MTHFR | c.3212C>A (p.Pro1071His) c.3698C>A (p.Pro1233His) c.*2783G>T (n.*2783G>T) c.1848C>A c.4877G>T (n.4877G>T) c.3770C>A (p.Pro1257His) c.1197C>A c.1027C>A n.629C>A n.86C>A c.3833C>A (p.Pro1278His) c.3779C>A (p.Pro1260His) c.3425C>A (p.Pro1142His) c.2114C>A (p.Pro705His) | gnomAD v4 |
1 | g.11787897C>G | CA338469577 | C1orf167,MTHFR | c.3212C>G (p.Pro1071Arg) c.3698C>G (p.Pro1233Arg) c.*2783G>C (n.*2783G>C) c.1848C>G c.4877G>C (n.4877G>C) c.3770C>G (p.Pro1257Arg) c.1197C>G c.1027C>G n.629C>G n.86C>G c.3833C>G (p.Pro1278Arg) c.3779C>G (p.Pro1260Arg) c.3425C>G (p.Pro1142Arg) c.2114C>G (p.Pro705Arg) | |
1 | g.11787897C>T | CA338469579 | C1orf167,MTHFR | c.3212C>T (p.Pro1071Leu) c.3698C>T (p.Pro1233Leu) c.*2783G>A (n.*2783G>A) c.1848C>T c.4877G>A (n.4877G>A) c.3770C>T (p.Pro1257Leu) c.1197C>T c.1027C>T n.629C>T n.86C>T c.3833C>T (p.Pro1278Leu) c.3779C>T (p.Pro1260Leu) c.3425C>T (p.Pro1142Leu) c.2114C>T (p.Pro705Leu) | gnomAD v4 |
1 | g.11787898T>A | CA416361856 | C1orf167,MTHFR | c.3213T>A (p.Pro1071=) c.3699T>A (p.Pro1233=) c.*2782A>T (n.*2782A>T) c.1849T>A c.4876A>T (n.4876A>T) c.3771T>A (p.Pro1257=) c.1198T>A c.1028T>A n.630T>A n.87T>A c.3834T>A (p.Pro1278=) c.3780T>A (p.Pro1260=) c.3426T>A (p.Pro1142=) c.2115T>A (p.Pro705=) | |
1 | g.11787898T>C | CA416361857 | C1orf167,MTHFR | c.3213T>C (p.Pro1071=) c.3699T>C (p.Pro1233=) c.*2782A>G (n.*2782A>G) c.1849T>C c.4876A>G (n.4876A>G) c.3771T>C (p.Pro1257=) c.1198T>C c.1028T>C n.630T>C n.87T>C c.3834T>C (p.Pro1278=) c.3780T>C (p.Pro1260=) c.3426T>C (p.Pro1142=) c.2115T>C (p.Pro705=) | gnomAD v4 |
1 | g.11787898T>G | CA416361858 | C1orf167,MTHFR | c.3213T>G (p.Pro1071=) c.3699T>G (p.Pro1233=) c.*2782A>C (n.*2782A>C) c.1849T>G c.4876A>C (n.4876A>C) c.3771T>G (p.Pro1257=) c.1198T>G c.1028T>G n.630T>G n.87T>G c.3834T>G (p.Pro1278=) c.3780T>G (p.Pro1260=) c.3426T>G (p.Pro1142=) c.2115T>G (p.Pro705=) | |
1 | g.11787899G>A | CA338469583 | C1orf167,MTHFR | c.3214G>A (p.Ala1072Thr) c.3700G>A (p.Ala1234Thr) c.*2781C>T (n.*2781C>T) c.1850G>A c.4875C>T (n.4875C>T) c.3772G>A (p.Ala1258Thr) c.1199G>A c.1029G>A n.631G>A n.88G>A c.3835G>A (p.Ala1279Thr) c.3781G>A (p.Ala1261Thr) c.3427G>A (p.Ala1143Thr) c.2116G>A (p.Ala706Thr) | gnomAD v4 |
1 | g.11787899G>C | CA338469584 | C1orf167,MTHFR | c.3214G>C (p.Ala1072Pro) c.3700G>C (p.Ala1234Pro) c.*2781C>G (n.*2781C>G) c.1850G>C c.4875C>G (n.4875C>G) c.3772G>C (p.Ala1258Pro) c.1199G>C c.1029G>C n.631G>C n.88G>C c.3835G>C (p.Ala1279Pro) c.3781G>C (p.Ala1261Pro) c.3427G>C (p.Ala1143Pro) c.2116G>C (p.Ala706Pro) | |
1 | g.11787899G>T | CA338469581 | C1orf167,MTHFR | c.3214G>T (p.Ala1072Ser) c.3700G>T (p.Ala1234Ser) c.*2781C>A (n.*2781C>A) c.1850G>T c.4875C>A (n.4875C>A) c.3772G>T (p.Ala1258Ser) c.1199G>T c.1029G>T n.631G>T n.88G>T c.3835G>T (p.Ala1279Ser) c.3781G>T (p.Ala1261Ser) c.3427G>T (p.Ala1143Ser) c.2116G>T (p.Ala706Ser) | gnomAD v4 |
1 | g.11787900C>A | CA338469587 | C1orf167,MTHFR | c.3215C>A (p.Ala1072Asp) c.3701C>A (p.Ala1234Asp) c.*2780G>T (n.*2780G>T) c.1851C>A c.4874G>T (n.4874G>T) c.3773C>A (p.Ala1258Asp) c.1200C>A c.1030C>A n.632C>A n.89C>A c.3836C>A (p.Ala1279Asp) c.3782C>A (p.Ala1261Asp) c.3428C>A (p.Ala1143Asp) c.2117C>A (p.Ala706Asp) | gnomAD v4 |
1 | g.11787900C>G | CA338469589 | C1orf167,MTHFR | c.3215C>G (p.Ala1072Gly) c.3701C>G (p.Ala1234Gly) c.*2780G>C (n.*2780G>C) c.1851C>G c.4874G>C (n.4874G>C) c.3773C>G (p.Ala1258Gly) c.1200C>G c.1030C>G n.632C>G n.89C>G c.3836C>G (p.Ala1279Gly) c.3782C>G (p.Ala1261Gly) c.3428C>G (p.Ala1143Gly) c.2117C>G (p.Ala706Gly) | |
1 | g.11787900C>T | CA338469591 | C1orf167,MTHFR | c.3215C>T (p.Ala1072Val) c.3701C>T (p.Ala1234Val) c.*2780G>A (n.*2780G>A) c.1851C>T c.4874G>A (n.4874G>A) c.3773C>T (p.Ala1258Val) c.1200C>T c.1030C>T n.632C>T n.89C>T c.3836C>T (p.Ala1279Val) c.3782C>T (p.Ala1261Val) c.3428C>T (p.Ala1143Val) c.2117C>T (p.Ala706Val) | |
1 | g.11787901C>A | CA416361859 | C1orf167,MTHFR | c.3216C>A (p.Ala1072=) c.3702C>A (p.Ala1234=) c.*2779G>T (n.*2779G>T) c.1852C>A c.4873G>T (n.4873G>T) c.3774C>A (p.Ala1258=) c.1201C>A c.1031C>A n.633C>A n.90C>A c.3837C>A (p.Ala1279=) c.3783C>A (p.Ala1261=) c.3429C>A (p.Ala1143=) c.2118C>A (p.Ala706=) | gnomAD v4 |
1 | g.11787901C>G | CA416361860 | C1orf167,MTHFR | c.3216C>G (p.Ala1072=) c.3702C>G (p.Ala1234=) c.*2779G>C (n.*2779G>C) c.1852C>G c.4873G>C (n.4873G>C) c.3774C>G (p.Ala1258=) c.1201C>G c.1031C>G n.633C>G n.90C>G c.3837C>G (p.Ala1279=) c.3783C>G (p.Ala1261=) c.3429C>G (p.Ala1143=) c.2118C>G (p.Ala706=) | |
1 | g.11787901C>T | CA416361861 | C1orf167,MTHFR | c.3216C>T (p.Ala1072=) c.3702C>T (p.Ala1234=) c.*2779G>A (n.*2779G>A) c.1852C>T c.4873G>A (n.4873G>A) c.3774C>T (p.Ala1258=) c.1201C>T c.1031C>T n.633C>T n.90C>T c.3837C>T (p.Ala1279=) c.3783C>T (p.Ala1261=) c.3429C>T (p.Ala1143=) c.2118C>T (p.Ala706=) | |
1 | g.11787902T>A | CA338469594 | C1orf167,MTHFR | c.3217T>A (p.Phe1073Ile) c.3703T>A (p.Phe1235Ile) c.*2778A>T (n.*2778A>T) c.1853T>A c.4872A>T (n.4872A>T) c.3775T>A (p.Phe1259Ile) c.1202T>A c.1032T>A n.634T>A n.91T>A c.3838T>A (p.Phe1280Ile) c.3784T>A (p.Phe1262Ile) c.3430T>A (p.Phe1144Ile) c.2119T>A (p.Phe707Ile) | gnomAD v4 |
1 | g.11787902T>C | CA338469596 | C1orf167,MTHFR | c.3217T>C (p.Phe1073Leu) c.3703T>C (p.Phe1235Leu) c.*2778A>G (n.*2778A>G) c.1853T>C c.4872A>G (n.4872A>G) c.3775T>C (p.Phe1259Leu) c.1202T>C c.1032T>C n.634T>C n.91T>C c.3838T>C (p.Phe1280Leu) c.3784T>C (p.Phe1262Leu) c.3430T>C (p.Phe1144Leu) c.2119T>C (p.Phe707Leu) | |
1 | g.11787902T>G | CA338469598 | C1orf167,MTHFR | c.3217T>G (p.Phe1073Val) c.3703T>G (p.Phe1235Val) c.*2778A>C (n.*2778A>C) c.1853T>G c.4872A>C (n.4872A>C) c.3775T>G (p.Phe1259Val) c.1202T>G c.1032T>G n.634T>G n.91T>G c.3838T>G (p.Phe1280Val) c.3784T>G (p.Phe1262Val) c.3430T>G (p.Phe1144Val) c.2119T>G (p.Phe707Val) | |
1 | g.11787903T>A | CA338469605 | C1orf167,MTHFR | c.3218T>A (p.Phe1073Tyr) c.3704T>A (p.Phe1235Tyr) c.*2777A>T (n.*2777A>T) c.1854T>A c.4871A>T (n.4871A>T) c.3776T>A (p.Phe1259Tyr) c.1203T>A c.1033T>A n.635T>A n.92T>A c.3839T>A (p.Phe1280Tyr) c.3785T>A (p.Phe1262Tyr) c.3431T>A (p.Phe1144Tyr) c.2120T>A (p.Phe707Tyr) | |
1 | g.11787903T>C | CA338469600 | C1orf167,MTHFR | c.3218T>C (p.Phe1073Ser) c.3704T>C (p.Phe1235Ser) c.*2777A>G (n.*2777A>G) c.1854T>C c.4871A>G (n.4871A>G) c.3776T>C (p.Phe1259Ser) c.1203T>C c.1033T>C n.635T>C n.92T>C c.3839T>C (p.Phe1280Ser) c.3785T>C (p.Phe1262Ser) c.3431T>C (p.Phe1144Ser) c.2120T>C (p.Phe707Ser) | gnomAD v4 |
1 | g.11787903T>G | CA338469602 | C1orf167,MTHFR | c.3218T>G (p.Phe1073Cys) c.3704T>G (p.Phe1235Cys) c.*2777A>C (n.*2777A>C) c.1854T>G c.4871A>C (n.4871A>C) c.3776T>G (p.Phe1259Cys) c.1203T>G c.1033T>G n.635T>G n.92T>G c.3839T>G (p.Phe1280Cys) c.3785T>G (p.Phe1262Cys) c.3431T>G (p.Phe1144Cys) c.2120T>G (p.Phe707Cys) | |
1 | g.11787904C>A | CA338469607 | C1orf167,MTHFR | c.3219C>A (p.Phe1073Leu) c.3705C>A (p.Phe1235Leu) c.*2776G>T (n.*2776G>T) c.1855C>A c.4870G>T (n.4870G>T) c.3777C>A (p.Phe1259Leu) c.1204C>A c.1034C>A n.636C>A n.93C>A c.3840C>A (p.Phe1280Leu) c.3786C>A (p.Phe1262Leu) c.3432C>A (p.Phe1144Leu) c.2121C>A (p.Phe707Leu) | gnomAD v4 |
1 | g.11787904C= | CA1153786408 | C1orf167,MTHFR | c.3219C= (p.Phe1073=) c.3705C= (p.Phe1235=) c.*2776G= (n.*2776G=) c.1855C= c.4870G= (n.4870G=) c.3777C= (p.Phe1259=) c.1204C= c.1034C= n.636C= n.93C= c.3840C= (p.Phe1280=) c.3786C= (p.Phe1262=) c.3432C= (p.Phe1144=) c.2121C= (p.Phe707=) | |
1 | g.11787904C>G | CA338469609 | C1orf167,MTHFR | c.3219C>G (p.Phe1073Leu) c.3705C>G (p.Phe1235Leu) c.*2776G>C (n.*2776G>C) c.1855C>G c.4870G>C (n.4870G>C) c.3777C>G (p.Phe1259Leu) c.1204C>G c.1034C>G n.636C>G n.93C>G c.3840C>G (p.Phe1280Leu) c.3786C>G (p.Phe1262Leu) c.3432C>G (p.Phe1144Leu) c.2121C>G (p.Phe707Leu) | |
1 | g.11787904C>T | CA416361862 | C1orf167,MTHFR | c.3219C>T (p.Phe1073=) c.3705C>T (p.Phe1235=) c.*2776G>A (n.*2776G>A) c.1855C>T c.4870G>A (n.4870G>A) c.3777C>T (p.Phe1259=) c.1204C>T c.1034C>T n.636C>T n.93C>T c.3840C>T (p.Phe1280=) c.3786C>T (p.Phe1262=) c.3432C>T (p.Phe1144=) c.2121C>T (p.Phe707=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11787905C>A | CA338469612 | C1orf167,MTHFR | c.3220C>A (p.Gln1074Lys) c.3706C>A (p.Gln1236Lys) c.*2775G>T (n.*2775G>T) c.1856C>A c.4869G>T (n.4869G>T) c.3778C>A (p.Gln1260Lys) c.1205C>A c.1035C>A n.637C>A n.94C>A c.3841C>A (p.Gln1281Lys) c.3787C>A (p.Gln1263Lys) c.3433C>A (p.Gln1145Lys) c.2122C>A (p.Gln708Lys) | gnomAD v4 |
1 | g.11787905C= | CA1153786411 | C1orf167,MTHFR | c.3220C= (p.Gln1074=) c.3706C= (p.Gln1236=) c.*2775G= (n.*2775G=) c.1856C= c.4869G= (n.4869G=) c.3778C= (p.Gln1260=) c.1205C= c.1035C= n.637C= n.94C= c.3841C= (p.Gln1281=) c.3787C= (p.Gln1263=) c.3433C= (p.Gln1145=) c.2122C= (p.Gln708=) | |
1 | g.11787905C>G | CA17995916 | C1orf167,MTHFR | c.3220C>G (p.Gln1074Glu) c.3706C>G (p.Gln1236Glu) c.*2775G>C (n.*2775G>C) c.1856C>G c.4869G>C (n.4869G>C) c.3778C>G (p.Gln1260Glu) c.1205C>G c.1035C>G n.637C>G n.94C>G c.3841C>G (p.Gln1281Glu) c.3787C>G (p.Gln1263Glu) c.3433C>G (p.Gln1145Glu) c.2122C>G (p.Gln708Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11787905C>T | CA338469617 | C1orf167,MTHFR | c.3220C>T (p.Gln1074Ter) c.3706C>T (p.Gln1236Ter) c.*2775G>A (n.*2775G>A) c.1856C>T c.4869G>A (n.4869G>A) c.3778C>T (p.Gln1260Ter) c.1205C>T c.1035C>T n.637C>T n.94C>T c.3841C>T (p.Gln1281Ter) c.3787C>T (p.Gln1263Ter) c.3433C>T (p.Gln1145Ter) c.2122C>T (p.Gln708Ter) | dbSNP gnomAD v4 |
1 | g.11787906A= | CA1153786414 | C1orf167,MTHFR | c.3221A= (p.Gln1074=) c.3707A= (p.Gln1236=) c.*2774T= (n.*2774T=) c.1857A= c.4868T= (n.4868T=) c.3779A= (p.Gln1260=) c.1206A= c.1036A= n.638A= n.95A= c.3842A= (p.Gln1281=) c.3788A= (p.Gln1263=) c.3434A= (p.Gln1145=) c.2123A= (p.Gln708=) | |
1 | g.11787906A>C | CA338469619 | C1orf167,MTHFR | c.3221A>C (p.Gln1074Pro) c.3707A>C (p.Gln1236Pro) c.*2774T>G (n.*2774T>G) c.1857A>C c.4868T>G (n.4868T>G) c.3779A>C (p.Gln1260Pro) c.1206A>C c.1036A>C n.638A>C n.95A>C c.3842A>C (p.Gln1281Pro) c.3788A>C (p.Gln1263Pro) c.3434A>C (p.Gln1145Pro) c.2123A>C (p.Gln708Pro) | |
1 | g.11787906A>G | CA338469624 | C1orf167,MTHFR | c.3221A>G (p.Gln1074Arg) c.3707A>G (p.Gln1236Arg) c.*2774T>C (n.*2774T>C) c.1857A>G c.4868T>C (n.4868T>C) c.3779A>G (p.Gln1260Arg) c.1206A>G c.1036A>G n.638A>G n.95A>G c.3842A>G (p.Gln1281Arg) c.3788A>G (p.Gln1263Arg) c.3434A>G (p.Gln1145Arg) c.2123A>G (p.Gln708Arg) | gnomAD v4 |
1 | g.11787906A>T | CA338469622 | C1orf167,MTHFR | c.3221A>T (p.Gln1074Leu) c.3707A>T (p.Gln1236Leu) c.*2774T>A (n.*2774T>A) c.1857A>T c.4868T>A (n.4868T>A) c.3779A>T (p.Gln1260Leu) c.1206A>T c.1036A>T n.638A>T n.95A>T c.3842A>T (p.Gln1281Leu) c.3788A>T (p.Gln1263Leu) c.3434A>T (p.Gln1145Leu) c.2123A>T (p.Gln708Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11787907G>A | CA416361866 | C1orf167,MTHFR | c.3222G>A (p.Gln1074=) c.3708G>A (p.Gln1236=) c.*2773C>T (n.*2773C>T) c.1858G>A c.4867C>T (n.4867C>T) c.3780G>A (p.Gln1260=) c.1207G>A c.1037G>A n.639G>A n.96G>A c.3843G>A (p.Gln1281=) c.3789G>A (p.Gln1263=) c.3435G>A (p.Gln1145=) c.2124G>A (p.Gln708=) | gnomAD v4 |
1 | g.11787907G>C | CA338469626 | C1orf167,MTHFR | c.3222G>C (p.Gln1074His) c.3708G>C (p.Gln1236His) c.*2773C>G (n.*2773C>G) c.1858G>C c.4867C>G (n.4867C>G) c.3780G>C (p.Gln1260His) c.1207G>C c.1037G>C n.639G>C n.96G>C c.3843G>C (p.Gln1281His) c.3789G>C (p.Gln1263His) c.3435G>C (p.Gln1145His) c.2124G>C (p.Gln708His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11787907G= | CA1153786418 | C1orf167,MTHFR | c.3222G= (p.Gln1074=) c.3708G= (p.Gln1236=) c.*2773C= (n.*2773C=) c.1858G= c.4867C= (n.4867C=) c.3780G= (p.Gln1260=) c.1207G= c.1037G= n.639G= n.96G= c.3843G= (p.Gln1281=) c.3789G= (p.Gln1263=) c.3435G= (p.Gln1145=) c.2124G= (p.Gln708=) | |
1 | g.11787907G>T | CA338469628 | C1orf167,MTHFR | c.3222G>T (p.Gln1074His) c.3708G>T (p.Gln1236His) c.*2773C>A (n.*2773C>A) c.1858G>T c.4867C>A (n.4867C>A) c.3780G>T (p.Gln1260His) c.1207G>T c.1037G>T n.639G>T n.96G>T c.3843G>T (p.Gln1281His) c.3789G>T (p.Gln1263His) c.3435G>T (p.Gln1145His) c.2124G>T (p.Gln708His) | gnomAD v4 |
1 | g.11787908C>A | CA338469630 | C1orf167,MTHFR | c.3223C>A (p.Leu1075Ile) c.3709C>A (p.Leu1237Ile) c.*2772G>T (n.*2772G>T) c.1859C>A c.4866G>T (n.4866G>T) c.3781C>A (p.Leu1261Ile) c.1208C>A c.1038C>A n.640C>A n.97C>A c.3844C>A (p.Leu1282Ile) c.3790C>A (p.Leu1264Ile) c.3436C>A (p.Leu1146Ile) c.2125C>A (p.Leu709Ile) | gnomAD v4 |
1 | g.11787908C= | CA1153786421 | C1orf167,MTHFR | c.3223C= (p.Leu1075=) c.3709C= (p.Leu1237=) c.*2772G= (n.*2772G=) c.1859C= c.4866G= (n.4866G=) c.3781C= (p.Leu1261=) c.1208C= c.1038C= n.640C= n.97C= c.3844C= (p.Leu1282=) c.3790C= (p.Leu1264=) c.3436C= (p.Leu1146=) c.2125C= (p.Leu709=) | |
1 | g.11787908C>G | CA338469633 | C1orf167,MTHFR | c.3223C>G (p.Leu1075Val) c.3709C>G (p.Leu1237Val) c.*2772G>C (n.*2772G>C) c.1859C>G c.4866G>C (n.4866G>C) c.3781C>G (p.Leu1261Val) c.1208C>G c.1038C>G n.640C>G n.97C>G c.3844C>G (p.Leu1282Val) c.3790C>G (p.Leu1264Val) c.3436C>G (p.Leu1146Val) c.2125C>G (p.Leu709Val) | |
1 | g.11787908C>T | CA338469635 | C1orf167,MTHFR | c.3223C>T (p.Leu1075Phe) c.3709C>T (p.Leu1237Phe) c.*2772G>A (n.*2772G>A) c.1859C>T c.4866G>A (n.4866G>A) c.3781C>T (p.Leu1261Phe) c.1208C>T c.1038C>T n.640C>T n.97C>T c.3844C>T (p.Leu1282Phe) c.3790C>T (p.Leu1264Phe) c.3436C>T (p.Leu1146Phe) c.2125C>T (p.Leu709Phe) | dbSNP gnomAD v4 |
1 | g.11787909T>A | CA338469636 | C1orf167,MTHFR | c.3224T>A (p.Leu1075His) c.3710T>A (p.Leu1237His) c.*2771A>T (n.*2771A>T) c.1860T>A c.4865A>T (n.4865A>T) c.3782T>A (p.Leu1261His) c.1209T>A c.1039T>A n.641T>A n.98T>A c.3845T>A (p.Leu1282His) c.3791T>A (p.Leu1264His) c.3437T>A (p.Leu1146His) c.2126T>A (p.Leu709His) | |
1 | g.11787909T>C | CA338469638 | C1orf167,MTHFR | c.3224T>C (p.Leu1075Pro) c.3710T>C (p.Leu1237Pro) c.*2771A>G (n.*2771A>G) c.1860T>C c.4865A>G (n.4865A>G) c.3782T>C (p.Leu1261Pro) c.1209T>C c.1039T>C n.641T>C n.98T>C c.3845T>C (p.Leu1282Pro) c.3791T>C (p.Leu1264Pro) c.3437T>C (p.Leu1146Pro) c.2126T>C (p.Leu709Pro) | gnomAD v4 |
1 | g.11787909T>G | CA338469640 | C1orf167,MTHFR | c.3224T>G (p.Leu1075Arg) c.3710T>G (p.Leu1237Arg) c.*2771A>C (n.*2771A>C) c.1860T>G c.4865A>C (n.4865A>C) c.3782T>G (p.Leu1261Arg) c.1209T>G c.1039T>G n.641T>G n.98T>G c.3845T>G (p.Leu1282Arg) c.3791T>G (p.Leu1264Arg) c.3437T>G (p.Leu1146Arg) c.2126T>G (p.Leu709Arg) | |
1 | g.11787910C>A | CA416361867 | C1orf167,MTHFR | c.3225C>A (p.Leu1075=) c.3711C>A (p.Leu1237=) c.*2770G>T (n.*2770G>T) c.1861C>A c.4864G>T (n.4864G>T) c.3783C>A (p.Leu1261=) c.1210C>A c.1040C>A n.642C>A n.99C>A c.3846C>A (p.Leu1282=) c.3792C>A (p.Leu1264=) c.3438C>A (p.Leu1146=) c.2127C>A (p.Leu709=) | gnomAD v4 |
1 | g.11787910C= | CA1153786423 | C1orf167,MTHFR | c.3225C= (p.Leu1075=) c.3711C= (p.Leu1237=) c.*2770G= (n.*2770G=) c.1861C= c.4864G= (n.4864G=) c.3783C= (p.Leu1261=) c.1210C= c.1040C= n.642C= n.99C= c.3846C= (p.Leu1282=) c.3792C= (p.Leu1264=) c.3438C= (p.Leu1146=) c.2127C= (p.Leu709=) | |
1 | g.11787910C>G | CA416361868 | C1orf167,MTHFR | c.3225C>G (p.Leu1075=) c.3711C>G (p.Leu1237=) c.*2770G>C (n.*2770G>C) c.1861C>G c.4864G>C (n.4864G>C) c.3783C>G (p.Leu1261=) c.1210C>G c.1040C>G n.642C>G n.99C>G c.3846C>G (p.Leu1282=) c.3792C>G (p.Leu1264=) c.3438C>G (p.Leu1146=) c.2127C>G (p.Leu709=) | |
1 | g.11787910C>T | CA416361869 | C1orf167,MTHFR | c.3225C>T (p.Leu1075=) c.3711C>T (p.Leu1237=) c.*2770G>A (n.*2770G>A) c.1861C>T c.4864G>A (n.4864G>A) c.3783C>T (p.Leu1261=) c.1210C>T c.1040C>T n.642C>T n.99C>T c.3846C>T (p.Leu1282=) c.3792C>T (p.Leu1264=) c.3438C>T (p.Leu1146=) c.2127C>T (p.Leu709=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11787911T>A | CA338469642 | C1orf167,MTHFR | c.3226T>A (p.Trp1076Arg) c.3712T>A (p.Trp1238Arg) c.*2769A>T (n.*2769A>T) c.1862T>A c.4863A>T (n.4863A>T) c.3784T>A (p.Trp1262Arg) c.1211T>A c.1041T>A n.643T>A n.100T>A c.3847T>A (p.Trp1283Arg) c.3793T>A (p.Trp1265Arg) c.3439T>A (p.Trp1147Arg) c.2128T>A (p.Trp710Arg) | |
1 | g.11787911T>C | CA338469644 | C1orf167,MTHFR | c.3226T>C (p.Trp1076Arg) c.3712T>C (p.Trp1238Arg) c.*2769A>G (n.*2769A>G) c.1862T>C c.4863A>G (n.4863A>G) c.3784T>C (p.Trp1262Arg) c.1211T>C c.1041T>C n.643T>C n.100T>C c.3847T>C (p.Trp1283Arg) c.3793T>C (p.Trp1265Arg) c.3439T>C (p.Trp1147Arg) c.2128T>C (p.Trp710Arg) | |
1 | g.11787911T>G | CA338469646 | C1orf167,MTHFR | c.3226T>G (p.Trp1076Gly) c.3712T>G (p.Trp1238Gly) c.*2769A>C (n.*2769A>C) c.1862T>G c.4863A>C (n.4863A>C) c.3784T>G (p.Trp1262Gly) c.1211T>G c.1041T>G n.643T>G n.100T>G c.3847T>G (p.Trp1283Gly) c.3793T>G (p.Trp1265Gly) c.3439T>G (p.Trp1147Gly) c.2128T>G (p.Trp710Gly) | |
1 | g.11787912G>A | CA595055 | C1orf167,MTHFR | c.3227G>A (p.Trp1076Ter) c.3713G>A (p.Trp1238Ter) c.*2768C>T (n.*2768C>T) c.1863G>A c.4862C>T (n.4862C>T) c.3785G>A (p.Trp1262Ter) c.1212G>A c.1042G>A n.644G>A n.101G>A c.3848G>A (p.Trp1283Ter) c.3794G>A (p.Trp1265Ter) c.3440G>A (p.Trp1147Ter) c.2129G>A (p.Trp710Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11787912G>C | CA338469650 | C1orf167,MTHFR | c.3227G>C (p.Trp1076Ser) c.3713G>C (p.Trp1238Ser) c.*2768C>G (n.*2768C>G) c.1863G>C c.4862C>G (n.4862C>G) c.3785G>C (p.Trp1262Ser) c.1212G>C c.1042G>C n.644G>C n.101G>C c.3848G>C (p.Trp1283Ser) c.3794G>C (p.Trp1265Ser) c.3440G>C (p.Trp1147Ser) c.2129G>C (p.Trp710Ser) | gnomAD v4 |
1 | g.11787912G= | CA1153786425 | C1orf167,MTHFR | c.3227G= (p.Trp1076=) c.3713G= (p.Trp1238=) c.*2768C= (n.*2768C=) c.1863G= c.4862C= (n.4862C=) c.3785G= (p.Trp1262=) c.1212G= c.1042G= n.644G= n.101G= c.3848G= (p.Trp1283=) c.3794G= (p.Trp1265=) c.3440G= (p.Trp1147=) c.2129G= (p.Trp710=) | |
1 | g.11787912G>T | CA338469649 | C1orf167,MTHFR | c.3227G>T (p.Trp1076Leu) c.3713G>T (p.Trp1238Leu) c.*2768C>A (n.*2768C>A) c.1863G>T c.4862C>A (n.4862C>A) c.3785G>T (p.Trp1262Leu) c.1212G>T c.1042G>T n.644G>T n.101G>T c.3848G>T (p.Trp1283Leu) c.3794G>T (p.Trp1265Leu) c.3440G>T (p.Trp1147Leu) c.2129G>T (p.Trp710Leu) | gnomAD v4 |
1 | g.11787913G>A | CA338469654 | C1orf167,MTHFR | c.3228G>A (p.Trp1076Ter) c.3714G>A (p.Trp1238Ter) c.*2767C>T (n.*2767C>T) c.1864G>A c.4861C>T (n.4861C>T) c.3786G>A (p.Trp1262Ter) c.1213G>A c.1043G>A n.645G>A n.102G>A c.3849G>A (p.Trp1283Ter) c.3795G>A (p.Trp1265Ter) c.3441G>A (p.Trp1147Ter) c.2130G>A (p.Trp710Ter) | gnomAD v4 |
1 | g.11787913G>C | CA338469657 | C1orf167,MTHFR | c.3228G>C (p.Trp1076Cys) c.3714G>C (p.Trp1238Cys) c.*2767C>G (n.*2767C>G) c.1864G>C c.4861C>G (n.4861C>G) c.3786G>C (p.Trp1262Cys) c.1213G>C c.1043G>C n.645G>C n.102G>C c.3849G>C (p.Trp1283Cys) c.3795G>C (p.Trp1265Cys) c.3441G>C (p.Trp1147Cys) c.2130G>C (p.Trp710Cys) | gnomAD v4 |
1 | g.11787913G>T | CA338469655 | C1orf167,MTHFR | c.3228G>T (p.Trp1076Cys) c.3714G>T (p.Trp1238Cys) c.*2767C>A (n.*2767C>A) c.1864G>T c.4861C>A (n.4861C>A) c.3786G>T (p.Trp1262Cys) c.1213G>T c.1043G>T n.645G>T n.102G>T c.3849G>T (p.Trp1283Cys) c.3795G>T (p.Trp1265Cys) c.3441G>T (p.Trp1147Cys) c.2130G>T (p.Trp710Cys) | gnomAD v4 |
1 | g.11787914C>A | CA338469660 | C1orf167,MTHFR | c.3229C>A (p.Pro1077Thr) c.3715C>A (p.Pro1239Thr) c.*2766G>T (n.*2766G>T) c.1865C>A c.4860G>T (n.4860G>T) c.3787C>A (p.Pro1263Thr) c.1214C>A c.1044C>A n.646C>A n.103C>A c.3850C>A (p.Pro1284Thr) c.3796C>A (p.Pro1266Thr) c.3442C>A (p.Pro1148Thr) c.2131C>A (p.Pro711Thr) | gnomAD v4 |
1 | g.11787914C>G | CA338469664 | C1orf167,MTHFR | c.3229C>G (p.Pro1077Ala) c.3715C>G (p.Pro1239Ala) c.*2766G>C (n.*2766G>C) c.1865C>G c.4860G>C (n.4860G>C) c.3787C>G (p.Pro1263Ala) c.1214C>G c.1044C>G n.646C>G n.103C>G c.3850C>G (p.Pro1284Ala) c.3796C>G (p.Pro1266Ala) c.3442C>G (p.Pro1148Ala) c.2131C>G (p.Pro711Ala) | |
1 | g.11787914C>T | CA338469662 | C1orf167,MTHFR | c.3229C>T (p.Pro1077Ser) c.3715C>T (p.Pro1239Ser) c.*2766G>A (n.*2766G>A) c.1865C>T c.4860G>A (n.4860G>A) c.3787C>T (p.Pro1263Ser) c.1214C>T c.1044C>T n.646C>T n.103C>T c.3850C>T (p.Pro1284Ser) c.3796C>T (p.Pro1266Ser) c.3442C>T (p.Pro1148Ser) c.2131C>T (p.Pro711Ser) | gnomAD v4 COSMIC COSMIC |
1 | g.11787915del | CA2643295212 | C1orf167,MTHFR | c.3230del (p.Pro1077HisfsTer?) c.3716del (p.Pro1239HisfsTer?) c.*2766del (n.*2766del) c.1866del c.4860del (n.4860del) c.3788del (p.Pro1263HisfsTer?) c.1215del c.1045del n.647del n.104del c.3851del (p.Pro1284HisfsTer?) c.3797del (p.Pro1266HisfsTer?) c.3443del (p.Pro1148HisfsTer?) c.2132del (p.Pro711HisfsTer?) | gnomAD v4 |
1 | g.11787915C>A | CA338469667 | C1orf167,MTHFR | c.3230C>A (p.Pro1077Gln) c.3716C>A (p.Pro1239Gln) c.*2765G>T (n.*2765G>T) c.1866C>A c.4859G>T (n.4859G>T) c.3788C>A (p.Pro1263Gln) c.1215C>A c.1045C>A n.647C>A n.104C>A c.3851C>A (p.Pro1284Gln) c.3797C>A (p.Pro1266Gln) c.3443C>A (p.Pro1148Gln) c.2132C>A (p.Pro711Gln) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11787915C= | CA1153786430 | C1orf167,MTHFR | c.3230C= (p.Pro1077=) c.3716C= (p.Pro1239=) c.*2765G= (n.*2765G=) c.1866C= c.4859G= (n.4859G=) c.3788C= (p.Pro1263=) c.1215C= c.1045C= n.647C= n.104C= c.3851C= (p.Pro1284=) c.3797C= (p.Pro1266=) c.3443C= (p.Pro1148=) c.2132C= (p.Pro711=) | |
1 | g.11787915C>G | CA338469669 | C1orf167,MTHFR | c.3230C>G (p.Pro1077Arg) c.3716C>G (p.Pro1239Arg) c.*2765G>C (n.*2765G>C) c.1866C>G c.4859G>C (n.4859G>C) c.3788C>G (p.Pro1263Arg) c.1215C>G c.1045C>G n.647C>G n.104C>G c.3851C>G (p.Pro1284Arg) c.3797C>G (p.Pro1266Arg) c.3443C>G (p.Pro1148Arg) c.2132C>G (p.Pro711Arg) | |
1 | g.11787915C>T | CA338469671 | C1orf167,MTHFR | c.3230C>T (p.Pro1077Leu) c.3716C>T (p.Pro1239Leu) c.*2765G>A (n.*2765G>A) c.1866C>T c.4859G>A (n.4859G>A) c.3788C>T (p.Pro1263Leu) c.1215C>T c.1045C>T n.647C>T n.104C>T c.3851C>T (p.Pro1284Leu) c.3797C>T (p.Pro1266Leu) c.3443C>T (p.Pro1148Leu) c.2132C>T (p.Pro711Leu) | |
1 | g.11787916A>C | CA416361871 | C1orf167,MTHFR | c.3231A>C (p.Pro1077=) c.3717A>C (p.Pro1239=) c.*2764T>G (n.*2764T>G) c.1867A>C c.4858T>G (n.4858T>G) c.3789A>C (p.Pro1263=) c.1216A>C c.1046A>C n.648A>C n.105A>C c.3852A>C (p.Pro1284=) c.3798A>C (p.Pro1266=) c.3444A>C (p.Pro1148=) c.2133A>C (p.Pro711=) | |
1 | g.11787916A>G | CA416361872 | C1orf167,MTHFR | c.3231A>G (p.Pro1077=) c.3717A>G (p.Pro1239=) c.*2764T>C (n.*2764T>C) c.1867A>G c.4858T>C (n.4858T>C) c.3789A>G (p.Pro1263=) c.1216A>G c.1046A>G n.648A>G n.105A>G c.3852A>G (p.Pro1284=) c.3798A>G (p.Pro1266=) c.3444A>G (p.Pro1148=) c.2133A>G (p.Pro711=) | |
1 | g.11787916A>T | CA416361874 | C1orf167,MTHFR | c.3231A>T (p.Pro1077=) c.3717A>T (p.Pro1239=) c.*2764T>A (n.*2764T>A) c.1867A>T c.4858T>A (n.4858T>A) c.3789A>T (p.Pro1263=) c.1216A>T c.1046A>T n.648A>T n.105A>T c.3852A>T (p.Pro1284=) c.3798A>T (p.Pro1266=) c.3444A>T (p.Pro1148=) c.2133A>T (p.Pro711=) | |
1 | g.11787917C>A | CA338469674 | C1orf167,MTHFR | c.3232C>A (p.Gln1078Lys) c.3718C>A (p.Gln1240Lys) c.*2763G>T (n.*2763G>T) c.1868C>A c.4857G>T (n.4857G>T) c.3790C>A (p.Gln1264Lys) c.1217C>A c.1047C>A n.649C>A n.106C>A c.3853C>A (p.Gln1285Lys) c.3799C>A (p.Gln1267Lys) c.3445C>A (p.Gln1149Lys) c.2134C>A (p.Gln712Lys) | gnomAD v4 |
1 | g.11787917C>G | CA338469676 | C1orf167,MTHFR | c.3232C>G (p.Gln1078Glu) c.3718C>G (p.Gln1240Glu) c.*2763G>C (n.*2763G>C) c.1868C>G c.4857G>C (n.4857G>C) c.3790C>G (p.Gln1264Glu) c.1217C>G c.1047C>G n.649C>G n.106C>G c.3853C>G (p.Gln1285Glu) c.3799C>G (p.Gln1267Glu) c.3445C>G (p.Gln1149Glu) c.2134C>G (p.Gln712Glu) | |
1 | g.11787917C>T | CA338469678 | C1orf167,MTHFR | c.3232C>T (p.Gln1078Ter) c.3718C>T (p.Gln1240Ter) c.*2763G>A (n.*2763G>A) c.1868C>T c.4857G>A (n.4857G>A) c.3790C>T (p.Gln1264Ter) c.1217C>T c.1047C>T n.649C>T n.106C>T c.3853C>T (p.Gln1285Ter) c.3799C>T (p.Gln1267Ter) c.3445C>T (p.Gln1149Ter) c.2134C>T (p.Gln712Ter) | gnomAD v4 |
1 | g.11787918A>C | CA338469681 | C1orf167,MTHFR | c.3233A>C (p.Gln1078Pro) c.3719A>C (p.Gln1240Pro) c.*2762T>G (n.*2762T>G) c.1869A>C c.4856T>G (n.4856T>G) c.3791A>C (p.Gln1264Pro) c.1218A>C c.1048A>C n.650A>C n.107A>C c.3854A>C (p.Gln1285Pro) c.3800A>C (p.Gln1267Pro) c.3446A>C (p.Gln1149Pro) c.2135A>C (p.Gln712Pro) | |
1 | g.11787918A>G | CA338469683 | C1orf167,MTHFR | c.3233A>G (p.Gln1078Arg) c.3719A>G (p.Gln1240Arg) c.*2762T>C (n.*2762T>C) c.1869A>G c.4856T>C (n.4856T>C) c.3791A>G (p.Gln1264Arg) c.1218A>G c.1048A>G n.650A>G n.107A>G c.3854A>G (p.Gln1285Arg) c.3800A>G (p.Gln1267Arg) c.3446A>G (p.Gln1149Arg) c.2135A>G (p.Gln712Arg) | |
1 | g.11787918A>T | CA338469685 | C1orf167,MTHFR | c.3233A>T (p.Gln1078Leu) c.3719A>T (p.Gln1240Leu) c.*2762T>A (n.*2762T>A) c.1869A>T c.4856T>A (n.4856T>A) c.3791A>T (p.Gln1264Leu) c.1218A>T c.1048A>T n.650A>T n.107A>T c.3854A>T (p.Gln1285Leu) c.3800A>T (p.Gln1267Leu) c.3446A>T (p.Gln1149Leu) c.2135A>T (p.Gln712Leu) | |
1 | g.11787919G>A | CA416361876 | C1orf167,MTHFR | c.3234G>A (p.Gln1078=) c.3720G>A (p.Gln1240=) c.*2761C>T (n.*2761C>T) c.1870G>A c.4855C>T (n.4855C>T) c.3792G>A (p.Gln1264=) c.1219G>A c.1049G>A n.651G>A n.108G>A c.3855G>A (p.Gln1285=) c.3801G>A (p.Gln1267=) c.3447G>A (p.Gln1149=) c.2136G>A (p.Gln712=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11787919G>C | CA338469686 | C1orf167,MTHFR | c.3234G>C (p.Gln1078His) c.3720G>C (p.Gln1240His) c.*2761C>G (n.*2761C>G) c.1870G>C c.4855C>G (n.4855C>G) c.3792G>C (p.Gln1264His) c.1219G>C c.1049G>C n.651G>C n.108G>C c.3855G>C (p.Gln1285His) c.3801G>C (p.Gln1267His) c.3447G>C (p.Gln1149His) c.2136G>C (p.Gln712His) | |
1 | g.11787919G= | CA1153786441 | C1orf167,MTHFR | c.3234G= (p.Gln1078=) c.3720G= (p.Gln1240=) c.*2761C= (n.*2761C=) c.1870G= c.4855C= (n.4855C=) c.3792G= (p.Gln1264=) c.1219G= c.1049G= n.651G= n.108G= c.3855G= (p.Gln1285=) c.3801G= (p.Gln1267=) c.3447G= (p.Gln1149=) c.2136G= (p.Gln712=) | |
1 | g.11787919G>T | CA338469687 | C1orf167,MTHFR | c.3234G>T (p.Gln1078His) c.3720G>T (p.Gln1240His) c.*2761C>A (n.*2761C>A) c.1870G>T c.4855C>A (n.4855C>A) c.3792G>T (p.Gln1264His) c.1219G>T c.1049G>T n.651G>T n.108G>T c.3855G>T (p.Gln1285His) c.3801G>T (p.Gln1267His) c.3447G>T (p.Gln1149His) c.2136G>T (p.Gln712His) | |
1 | g.11787920T>A | CA338469693 | C1orf167,MTHFR | c.3235T>A (p.Trp1079Arg) c.3721T>A (p.Trp1241Arg) c.*2760A>T (n.*2760A>T) c.1871T>A c.4854A>T (n.4854A>T) c.3793T>A (p.Trp1265Arg) c.1220T>A c.1050T>A n.652T>A n.109T>A c.3856T>A (p.Trp1286Arg) c.3802T>A (p.Trp1268Arg) c.3448T>A (p.Trp1150Arg) c.2137T>A (p.Trp713Arg) | gnomAD v4 |
1 | g.11787920T>C | CA338469691 | C1orf167,MTHFR | c.3235T>C (p.Trp1079Arg) c.3721T>C (p.Trp1241Arg) c.*2760A>G (n.*2760A>G) c.1871T>C c.4854A>G (n.4854A>G) c.3793T>C (p.Trp1265Arg) c.1220T>C c.1050T>C n.652T>C n.109T>C c.3856T>C (p.Trp1286Arg) c.3802T>C (p.Trp1268Arg) c.3448T>C (p.Trp1150Arg) c.2137T>C (p.Trp713Arg) | gnomAD v4 |
1 | g.11787920T>G | CA338469689 | C1orf167,MTHFR | c.3235T>G (p.Trp1079Gly) c.3721T>G (p.Trp1241Gly) c.*2760A>C (n.*2760A>C) c.1871T>G c.4854A>C (n.4854A>C) c.3793T>G (p.Trp1265Gly) c.1220T>G c.1050T>G n.652T>G n.109T>G c.3856T>G (p.Trp1286Gly) c.3802T>G (p.Trp1268Gly) c.3448T>G (p.Trp1150Gly) c.2137T>G (p.Trp713Gly) | |
1 | g.11787921G>A | CA338469695 | C1orf167,MTHFR | c.3236G>A (p.Trp1079Ter) c.3722G>A (p.Trp1241Ter) c.*2759C>T (n.*2759C>T) c.1872G>A c.4853C>T (n.4853C>T) c.3794G>A (p.Trp1265Ter) c.1221G>A c.1051G>A n.653G>A n.110G>A c.3857G>A (p.Trp1286Ter) c.3803G>A (p.Trp1268Ter) c.3449G>A (p.Trp1150Ter) c.2138G>A (p.Trp713Ter) | |
1 | g.11787921G>C | CA338469697 | C1orf167,MTHFR | c.3236G>C (p.Trp1079Ser) c.3722G>C (p.Trp1241Ser) c.*2759C>G (n.*2759C>G) c.1872G>C c.4853C>G (n.4853C>G) c.3794G>C (p.Trp1265Ser) c.1221G>C c.1051G>C n.653G>C n.110G>C c.3857G>C (p.Trp1286Ser) c.3803G>C (p.Trp1268Ser) c.3449G>C (p.Trp1150Ser) c.2138G>C (p.Trp713Ser) | gnomAD v4 |
1 | g.11787921G>T | CA338469700 | C1orf167,MTHFR | c.3236G>T (p.Trp1079Leu) c.3722G>T (p.Trp1241Leu) c.*2759C>A (n.*2759C>A) c.1872G>T c.4853C>A (n.4853C>A) c.3794G>T (p.Trp1265Leu) c.1221G>T c.1051G>T n.653G>T n.110G>T c.3857G>T (p.Trp1286Leu) c.3803G>T (p.Trp1268Leu) c.3449G>T (p.Trp1150Leu) c.2138G>T (p.Trp713Leu) | |
1 | g.11787922G>A | CA338469703 | C1orf167,MTHFR | c.3237G>A (p.Trp1079Ter) c.3723G>A (p.Trp1241Ter) c.*2758C>T (n.*2758C>T) c.1873G>A c.4852C>T (n.4852C>T) c.3795G>A (p.Trp1265Ter) c.1222G>A c.1052G>A n.654G>A n.111G>A c.3858G>A (p.Trp1286Ter) c.3804G>A (p.Trp1268Ter) c.3450G>A (p.Trp1150Ter) c.2139G>A (p.Trp713Ter) | |
1 | g.11787922G>C | CA338469705 | C1orf167,MTHFR | c.3237G>C (p.Trp1079Cys) c.3723G>C (p.Trp1241Cys) c.*2758C>G (n.*2758C>G) c.1873G>C c.4852C>G (n.4852C>G) c.3795G>C (p.Trp1265Cys) c.1222G>C c.1052G>C n.654G>C n.111G>C c.3858G>C (p.Trp1286Cys) c.3804G>C (p.Trp1268Cys) c.3450G>C (p.Trp1150Cys) c.2139G>C (p.Trp713Cys) | |
1 | g.11787922G>T | CA338469707 | C1orf167,MTHFR | c.3237G>T (p.Trp1079Cys) c.3723G>T (p.Trp1241Cys) c.*2758C>A (n.*2758C>A) c.1873G>T c.4852C>A (n.4852C>A) c.3795G>T (p.Trp1265Cys) c.1222G>T c.1052G>T n.654G>T n.111G>T c.3858G>T (p.Trp1286Cys) c.3804G>T (p.Trp1268Cys) c.3450G>T (p.Trp1150Cys) c.2139G>T (p.Trp713Cys) | gnomAD v4 |
1 | g.11787923C>A | CA338469710 | C1orf167,MTHFR | c.3238C>A (p.Pro1080Thr) c.3724C>A (p.Pro1242Thr) c.*2757G>T (n.*2757G>T) c.1874C>A c.4851G>T (n.4851G>T) c.3796C>A (p.Pro1266Thr) c.1223C>A c.1053C>A n.655C>A n.112C>A c.3859C>A (p.Pro1287Thr) c.3805C>A (p.Pro1269Thr) c.3451C>A (p.Pro1151Thr) c.2140C>A (p.Pro714Thr) | gnomAD v4 |
1 | g.11787923C= | CA1153786446 | C1orf167,MTHFR | c.3238C= (p.Pro1080=) c.3724C= (p.Pro1242=) c.*2757G= (n.*2757G=) c.1874C= c.4851G= (n.4851G=) c.3796C= (p.Pro1266=) c.1223C= c.1053C= n.655C= n.112C= c.3859C= (p.Pro1287=) c.3805C= (p.Pro1269=) c.3451C= (p.Pro1151=) c.2140C= (p.Pro714=) | |
1 | g.11787923C>G | CA338469712 | C1orf167,MTHFR | c.3238C>G (p.Pro1080Ala) c.3724C>G (p.Pro1242Ala) c.*2757G>C (n.*2757G>C) c.1874C>G c.4851G>C (n.4851G>C) c.3796C>G (p.Pro1266Ala) c.1223C>G c.1053C>G n.655C>G n.112C>G c.3859C>G (p.Pro1287Ala) c.3805C>G (p.Pro1269Ala) c.3451C>G (p.Pro1151Ala) c.2140C>G (p.Pro714Ala) | gnomAD v4 |
1 | g.11787923C>T | CA338469714 | C1orf167,MTHFR | c.3238C>T (p.Pro1080Ser) c.3724C>T (p.Pro1242Ser) c.*2757G>A (n.*2757G>A) c.1874C>T c.4851G>A (n.4851G>A) c.3796C>T (p.Pro1266Ser) c.1223C>T c.1053C>T n.655C>T n.112C>T c.3859C>T (p.Pro1287Ser) c.3805C>T (p.Pro1269Ser) c.3451C>T (p.Pro1151Ser) c.2140C>T (p.Pro714Ser) | dbSNP gnomAD v2 |
1 | g.11787924C>A | CA338469715 | C1orf167,MTHFR | c.3239C>A (p.Pro1080His) c.3725C>A (p.Pro1242His) c.*2756G>T (n.*2756G>T) c.1875C>A c.4850G>T (n.4850G>T) c.3797C>A (p.Pro1266His) c.1224C>A c.1054C>A n.656C>A n.113C>A c.3860C>A (p.Pro1287His) c.3806C>A (p.Pro1269His) c.3452C>A (p.Pro1151His) c.2141C>A (p.Pro714His) | |
1 | g.11787924C>G | CA338469717 | C1orf167,MTHFR | c.3239C>G (p.Pro1080Arg) c.3725C>G (p.Pro1242Arg) c.*2756G>C (n.*2756G>C) c.1875C>G c.4850G>C (n.4850G>C) c.3797C>G (p.Pro1266Arg) c.1224C>G c.1054C>G n.656C>G n.113C>G c.3860C>G (p.Pro1287Arg) c.3806C>G (p.Pro1269Arg) c.3452C>G (p.Pro1151Arg) c.2141C>G (p.Pro714Arg) | |
1 | g.11787924C>T | CA338469719 | C1orf167,MTHFR | c.3239C>T (p.Pro1080Leu) c.3725C>T (p.Pro1242Leu) c.*2756G>A (n.*2756G>A) c.1875C>T c.4850G>A (n.4850G>A) c.3797C>T (p.Pro1266Leu) c.1224C>T c.1054C>T n.656C>T n.113C>T c.3860C>T (p.Pro1287Leu) c.3806C>T (p.Pro1269Leu) c.3452C>T (p.Pro1151Leu) c.2141C>T (p.Pro714Leu) | |
1 | g.11787925T>A | CA416361885 | C1orf167,MTHFR | c.3240T>A (p.Pro1080=) c.3726T>A (p.Pro1242=) c.*2755A>T (n.*2755A>T) c.1876T>A c.4849A>T (n.4849A>T) c.3798T>A (p.Pro1266=) c.1225T>A c.1055T>A n.657T>A n.114T>A c.3861T>A (p.Pro1287=) c.3807T>A (p.Pro1269=) c.3453T>A (p.Pro1151=) c.2142T>A (p.Pro714=) | |
1 | g.11787925T>C | CA17995927 | C1orf167,MTHFR | c.3240T>C (p.Pro1080=) c.3726T>C (p.Pro1242=) c.*2755A>G (n.*2755A>G) c.1876T>C c.4849A>G (n.4849A>G) c.3798T>C (p.Pro1266=) c.1225T>C c.1055T>C n.657T>C n.114T>C c.3861T>C (p.Pro1287=) c.3807T>C (p.Pro1269=) c.3453T>C (p.Pro1151=) c.2142T>C (p.Pro714=) | dbSNP gnomAD v4 |
1 | g.11787925T>G | CA416361887 | C1orf167,MTHFR | c.3240T>G (p.Pro1080=) c.3726T>G (p.Pro1242=) c.*2755A>C (n.*2755A>C) c.1876T>G c.4849A>C (n.4849A>C) c.3798T>G (p.Pro1266=) c.1225T>G c.1055T>G n.657T>G n.114T>G c.3861T>G (p.Pro1287=) c.3807T>G (p.Pro1269=) c.3453T>G (p.Pro1151=) c.2142T>G (p.Pro714=) | |
1 | g.11787925T= | CA1153786448 | C1orf167,MTHFR | c.3240T= (p.Pro1080=) c.3726T= (p.Pro1242=) c.*2755A= (n.*2755A=) c.1876T= c.4849A= (n.4849A=) c.3798T= (p.Pro1266=) c.1225T= c.1055T= n.657T= n.114T= c.3861T= (p.Pro1287=) c.3807T= (p.Pro1269=) c.3453T= (p.Pro1151=) c.2142T= (p.Pro714=) | |
1 | g.11787926G>A | CA338469728 | C1orf167,MTHFR | c.3241G>A (p.Gly1081Arg) c.3727G>A (p.Gly1243Arg) c.*2754C>T (n.*2754C>T) c.1877G>A c.4848C>T (n.4848C>T) c.3799G>A (p.Gly1267Arg) c.1226G>A c.1056G>A n.658G>A n.115G>A c.3862G>A (p.Gly1288Arg) c.3808G>A (p.Gly1270Arg) c.3454G>A (p.Gly1152Arg) c.2143G>A (p.Gly715Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11787926G>C | CA338469723 | C1orf167,MTHFR | c.3241G>C (p.Gly1081Arg) c.3727G>C (p.Gly1243Arg) c.*2754C>G (n.*2754C>G) c.1877G>C c.4848C>G (n.4848C>G) c.3799G>C (p.Gly1267Arg) c.1226G>C c.1056G>C n.658G>C n.115G>C c.3862G>C (p.Gly1288Arg) c.3808G>C (p.Gly1270Arg) c.3454G>C (p.Gly1152Arg) c.2143G>C (p.Gly715Arg) | |
1 | g.11787926G= | CA1153786449 | C1orf167,MTHFR | c.3241G= (p.Gly1081=) c.3727G= (p.Gly1243=) c.*2754C= (n.*2754C=) c.1877G= c.4848C= (n.4848C=) c.3799G= (p.Gly1267=) c.1226G= c.1056G= n.658G= n.115G= c.3862G= (p.Gly1288=) c.3808G= (p.Gly1270=) c.3454G= (p.Gly1152=) c.2143G= (p.Gly715=) | |
1 | g.11787926G>T | CA338469725 | C1orf167,MTHFR | c.3241G>T (p.Gly1081Ter) c.3727G>T (p.Gly1243Ter) c.*2754C>A (n.*2754C>A) c.1877G>T c.4848C>A (n.4848C>A) c.3799G>T (p.Gly1267Ter) c.1226G>T c.1056G>T n.658G>T n.115G>T c.3862G>T (p.Gly1288Ter) c.3808G>T (p.Gly1270Ter) c.3454G>T (p.Gly1152Ter) c.2143G>T (p.Gly715Ter) | |
1 | g.11787927G>A | CA338469730 | C1orf167,MTHFR | c.3242G>A (p.Gly1081Glu) c.3728G>A (p.Gly1243Glu) c.*2753C>T (n.*2753C>T) c.1878G>A c.4847C>T (n.4847C>T) c.3800G>A (p.Gly1267Glu) c.1227G>A c.1057G>A n.659G>A n.116G>A c.3863G>A (p.Gly1288Glu) c.3809G>A (p.Gly1270Glu) c.3455G>A (p.Gly1152Glu) c.2144G>A (p.Gly715Glu) | |
1 | g.11787927G>C | CA338469732 | C1orf167,MTHFR | c.3242G>C (p.Gly1081Ala) c.3728G>C (p.Gly1243Ala) c.*2753C>G (n.*2753C>G) c.1878G>C c.4847C>G (n.4847C>G) c.3800G>C (p.Gly1267Ala) c.1227G>C c.1057G>C n.659G>C n.116G>C c.3863G>C (p.Gly1288Ala) c.3809G>C (p.Gly1270Ala) c.3455G>C (p.Gly1152Ala) c.2144G>C (p.Gly715Ala) | |
1 | g.11787927G>T | CA338469734 | C1orf167,MTHFR | c.3242G>T (p.Gly1081Val) c.3728G>T (p.Gly1243Val) c.*2753C>A (n.*2753C>A) c.1878G>T c.4847C>A (n.4847C>A) c.3800G>T (p.Gly1267Val) c.1227G>T c.1057G>T n.659G>T n.116G>T c.3863G>T (p.Gly1288Val) c.3809G>T (p.Gly1270Val) c.3455G>T (p.Gly1152Val) c.2144G>T (p.Gly715Val) | |
1 | g.11787928A= | CA1153786450 | C1orf167,MTHFR | c.3243A= (p.Gly1081=) c.3729A= (p.Gly1243=) c.*2752T= (n.*2752T=) c.1879A= c.4846T= (n.4846T=) c.3801A= (p.Gly1267=) c.1228A= c.1058A= n.660A= n.117A= c.3864A= (p.Gly1288=) c.3810A= (p.Gly1270=) c.3456A= (p.Gly1152=) c.2145A= (p.Gly715=) | |
1 | g.11787928A>C | CA416361892 | C1orf167,MTHFR | c.3243A>C (p.Gly1081=) c.3729A>C (p.Gly1243=) c.*2752T>G (n.*2752T>G) c.1879A>C c.4846T>G (n.4846T>G) c.3801A>C (p.Gly1267=) c.1228A>C c.1058A>C n.660A>C n.117A>C c.3864A>C (p.Gly1288=) c.3810A>C (p.Gly1270=) c.3456A>C (p.Gly1152=) c.2145A>C (p.Gly715=) | dbSNP |
1 | g.11787928A>G | CA416361894 | C1orf167,MTHFR | c.3243A>G (p.Gly1081=) c.3729A>G (p.Gly1243=) c.*2752T>C (n.*2752T>C) c.1879A>G c.4846T>C (n.4846T>C) c.3801A>G (p.Gly1267=) c.1228A>G c.1058A>G n.660A>G n.117A>G c.3864A>G (p.Gly1288=) c.3810A>G (p.Gly1270=) c.3456A>G (p.Gly1152=) c.2145A>G (p.Gly715=) | |
1 | g.11787928A>T | CA416361893 | C1orf167,MTHFR | c.3243A>T (p.Gly1081=) c.3729A>T (p.Gly1243=) c.*2752T>A (n.*2752T>A) c.1879A>T c.4846T>A (n.4846T>A) c.3801A>T (p.Gly1267=) c.1228A>T c.1058A>T n.660A>T n.117A>T c.3864A>T (p.Gly1288=) c.3810A>T (p.Gly1270=) c.3456A>T (p.Gly1152=) c.2145A>T (p.Gly715=) | |
1 | g.11787929C>A | CA595056 | C1orf167,MTHFR | c.3244C>A (p.Gln1082Lys) c.3730C>A (p.Gln1244Lys) c.*2751G>T (n.*2751G>T) c.1880C>A c.4845G>T (n.4845G>T) c.3802C>A (p.Gln1268Lys) c.1229C>A c.1059C>A n.661C>A n.118C>A c.3865C>A (p.Gln1289Lys) c.3811C>A (p.Gln1271Lys) c.3457C>A (p.Gln1153Lys) c.2146C>A (p.Gln716Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11787929C= | CA1141607412 | C1orf167,MTHFR | c.3244C= (p.Gln1082=) c.3730C= (p.Gln1244=) c.*2751G= (n.*2751G=) c.1880C= c.4845G= (n.4845G=) c.3802C= (p.Gln1268=) c.1229C= c.1059C= n.661C= n.118C= c.3865C= (p.Gln1289=) c.3811C= (p.Gln1271=) c.3457C= (p.Gln1153=) c.2146C= (p.Gln716=) | |
1 | g.11787929C>G | CA338469738 | C1orf167,MTHFR | c.3244C>G (p.Gln1082Glu) c.3730C>G (p.Gln1244Glu) c.*2751G>C (n.*2751G>C) c.1880C>G c.4845G>C (n.4845G>C) c.3802C>G (p.Gln1268Glu) c.1229C>G c.1059C>G n.661C>G n.118C>G c.3865C>G (p.Gln1289Glu) c.3811C>G (p.Gln1271Glu) c.3457C>G (p.Gln1153Glu) c.2146C>G (p.Gln716Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11787929C>T | CA338469739 | C1orf167,MTHFR | c.3244C>T (p.Gln1082Ter) c.3730C>T (p.Gln1244Ter) c.*2751G>A (n.*2751G>A) c.1880C>T c.4845G>A (n.4845G>A) c.3802C>T (p.Gln1268Ter) c.1229C>T c.1059C>T n.661C>T n.118C>T c.3865C>T (p.Gln1289Ter) c.3811C>T (p.Gln1271Ter) c.3457C>T (p.Gln1153Ter) c.2146C>T (p.Gln716Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11787930A= | CA1153786451 | C1orf167,MTHFR | c.3245A= (p.Gln1082=) c.3731A= (p.Gln1244=) c.*2750T= (n.*2750T=) c.1881A= c.4844T= (n.4844T=) c.3803A= (p.Gln1268=) c.1230A= c.1060A= n.662A= n.119A= c.3866A= (p.Gln1289=) c.3812A= (p.Gln1271=) c.3458A= (p.Gln1153=) c.2147A= (p.Gln716=) | |
1 | g.11787930A>C | CA338469742 | C1orf167,MTHFR | c.3245A>C (p.Gln1082Pro) c.3731A>C (p.Gln1244Pro) c.*2750T>G (n.*2750T>G) c.1881A>C c.4844T>G (n.4844T>G) c.3803A>C (p.Gln1268Pro) c.1230A>C c.1060A>C n.662A>C n.119A>C c.3866A>C (p.Gln1289Pro) c.3812A>C (p.Gln1271Pro) c.3458A>C (p.Gln1153Pro) c.2147A>C (p.Gln716Pro) | |
1 | g.11787930A>G | CA338469744 | C1orf167,MTHFR | c.3245A>G (p.Gln1082Arg) c.3731A>G (p.Gln1244Arg) c.*2750T>C (n.*2750T>C) c.1881A>G c.4844T>C (n.4844T>C) c.3803A>G (p.Gln1268Arg) c.1230A>G c.1060A>G n.662A>G n.119A>G c.3866A>G (p.Gln1289Arg) c.3812A>G (p.Gln1271Arg) c.3458A>G (p.Gln1153Arg) c.2147A>G (p.Gln716Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11787930A>T | CA338469746 | C1orf167,MTHFR | c.3245A>T (p.Gln1082Leu) c.3731A>T (p.Gln1244Leu) c.*2750T>A (n.*2750T>A) c.1881A>T c.4844T>A (n.4844T>A) c.3803A>T (p.Gln1268Leu) c.1230A>T c.1060A>T n.662A>T n.119A>T c.3866A>T (p.Gln1289Leu) c.3812A>T (p.Gln1271Leu) c.3458A>T (p.Gln1153Leu) c.2147A>T (p.Gln716Leu) | |
1 | g.11787931G>A | CA416361900 | C1orf167,MTHFR | c.3246G>A (p.Gln1082=) c.3732G>A (p.Gln1244=) c.*2749C>T (n.*2749C>T) c.1882G>A c.4843C>T (n.4843C>T) c.3804G>A (p.Gln1268=) c.1231G>A c.1061G>A n.663G>A n.120G>A c.3867G>A (p.Gln1289=) c.3813G>A (p.Gln1271=) c.3459G>A (p.Gln1153=) c.2148G>A (p.Gln716=) | |
1 | g.11787931G>C | CA338469748 | C1orf167,MTHFR | c.3246G>C (p.Gln1082His) c.3732G>C (p.Gln1244His) c.*2749C>G (n.*2749C>G) c.1882G>C c.4843C>G (n.4843C>G) c.3804G>C (p.Gln1268His) c.1231G>C c.1061G>C n.663G>C n.120G>C c.3867G>C (p.Gln1289His) c.3813G>C (p.Gln1271His) c.3459G>C (p.Gln1153His) c.2148G>C (p.Gln716His) | gnomAD v4 |
1 | g.11787931G>T | CA338469750 | C1orf167,MTHFR | c.3246G>T (p.Gln1082His) c.3732G>T (p.Gln1244His) c.*2749C>A (n.*2749C>A) c.1882G>T c.4843C>A (n.4843C>A) c.3804G>T (p.Gln1268His) c.1231G>T c.1061G>T n.663G>T n.120G>T c.3867G>T (p.Gln1289His) c.3813G>T (p.Gln1271His) c.3459G>T (p.Gln1153His) c.2148G>T (p.Gln716His) | gnomAD v4 |
1 | g.11787932A= | CA1153786452 | C1orf167,MTHFR | c.3247A= (p.Ser1083=) c.3733A= (p.Ser1245=) c.*2748T= (n.*2748T=) c.1883A= c.4842T= (n.4842T=) c.3805A= (p.Ser1269=) c.1232A= c.1062A= n.664A= n.121A= c.3868A= (p.Ser1290=) c.3814A= (p.Ser1272=) c.3460A= (p.Ser1154=) c.2149A= (p.Ser717=) | |
1 | g.11787932A>C | CA338469753 | C1orf167,MTHFR | c.3247A>C (p.Ser1083Arg) c.3733A>C (p.Ser1245Arg) c.*2748T>G (n.*2748T>G) c.1883A>C c.4842T>G (n.4842T>G) c.3805A>C (p.Ser1269Arg) c.1232A>C c.1062A>C n.664A>C n.121A>C c.3868A>C (p.Ser1290Arg) c.3814A>C (p.Ser1272Arg) c.3460A>C (p.Ser1154Arg) c.2149A>C (p.Ser717Arg) | |
1 | g.11787932A>G | CA338469756 | C1orf167,MTHFR | c.3247A>G (p.Ser1083Gly) c.3733A>G (p.Ser1245Gly) c.*2748T>C (n.*2748T>C) c.1883A>G c.4842T>C (n.4842T>C) c.3805A>G (p.Ser1269Gly) c.1232A>G c.1062A>G n.664A>G n.121A>G c.3868A>G (p.Ser1290Gly) c.3814A>G (p.Ser1272Gly) c.3460A>G (p.Ser1154Gly) c.2149A>G (p.Ser717Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11787932A>T | CA338469754 | C1orf167,MTHFR | c.3247A>T (p.Ser1083Cys) c.3733A>T (p.Ser1245Cys) c.*2748T>A (n.*2748T>A) c.1883A>T c.4842T>A (n.4842T>A) c.3805A>T (p.Ser1269Cys) c.1232A>T c.1062A>T n.664A>T n.121A>T c.3868A>T (p.Ser1290Cys) c.3814A>T (p.Ser1272Cys) c.3460A>T (p.Ser1154Cys) c.2149A>T (p.Ser717Cys) | |
1 | g.11787933G>A | CA338469759 | C1orf167,MTHFR | c.3248G>A (p.Ser1083Asn) c.3734G>A (p.Ser1245Asn) c.*2747C>T (n.*2747C>T) c.1884G>A c.4841C>T (n.4841C>T) c.3806G>A (p.Ser1269Asn) c.1233G>A c.1063G>A n.665G>A n.122G>A c.3869G>A (p.Ser1290Asn) c.3815G>A (p.Ser1272Asn) c.3461G>A (p.Ser1154Asn) c.2150G>A (p.Ser717Asn) | gnomAD v4 |
1 | g.11787933G>C | CA338469761 | C1orf167,MTHFR | c.3248G>C (p.Ser1083Thr) c.3734G>C (p.Ser1245Thr) c.*2747C>G (n.*2747C>G) c.1884G>C c.4841C>G (n.4841C>G) c.3806G>C (p.Ser1269Thr) c.1233G>C c.1063G>C n.665G>C n.122G>C c.3869G>C (p.Ser1290Thr) c.3815G>C (p.Ser1272Thr) c.3461G>C (p.Ser1154Thr) c.2150G>C (p.Ser717Thr) | |
1 | g.11787933G>T | CA338469763 | C1orf167,MTHFR | c.3248G>T (p.Ser1083Ile) c.3734G>T (p.Ser1245Ile) c.*2747C>A (n.*2747C>A) c.1884G>T c.4841C>A (n.4841C>A) c.3806G>T (p.Ser1269Ile) c.1233G>T c.1063G>T n.665G>T n.122G>T c.3869G>T (p.Ser1290Ile) c.3815G>T (p.Ser1272Ile) c.3461G>T (p.Ser1154Ile) c.2150G>T (p.Ser717Ile) | |
1 | g.11787934T>A | CA17995934 | C1orf167,MTHFR | c.3249T>A (p.Ser1083Arg) c.3735T>A (p.Ser1245Arg) c.*2746A>T (n.*2746A>T) c.1885T>A c.4840A>T (n.4840A>T) c.3807T>A (p.Ser1269Arg) c.1234T>A c.1064T>A n.666T>A n.123T>A c.3870T>A (p.Ser1290Arg) c.3816T>A (p.Ser1272Arg) c.3462T>A (p.Ser1154Arg) c.2151T>A (p.Ser717Arg) | dbSNP |
1 | g.11787934T>C | CA416361906 | C1orf167,MTHFR | c.3249T>C (p.Ser1083=) c.3735T>C (p.Ser1245=) c.*2746A>G (n.*2746A>G) c.1885T>C c.4840A>G (n.4840A>G) c.3807T>C (p.Ser1269=) c.1234T>C c.1064T>C n.666T>C n.123T>C c.3870T>C (p.Ser1290=) c.3816T>C (p.Ser1272=) c.3462T>C (p.Ser1154=) c.2151T>C (p.Ser717=) | |
1 | g.11787934T>G | CA338469767 | C1orf167,MTHFR | c.3249T>G (p.Ser1083Arg) c.3735T>G (p.Ser1245Arg) c.*2746A>C (n.*2746A>C) c.1885T>G c.4840A>C (n.4840A>C) c.3807T>G (p.Ser1269Arg) c.1234T>G c.1064T>G n.666T>G n.123T>G c.3870T>G (p.Ser1290Arg) c.3816T>G (p.Ser1272Arg) c.3462T>G (p.Ser1154Arg) c.2151T>G (p.Ser717Arg) | |
1 | g.11787934T= | CA1153786453 | C1orf167,MTHFR | c.3249T= (p.Ser1083=) c.3735T= (p.Ser1245=) c.*2746A= (n.*2746A=) c.1885T= c.4840A= (n.4840A=) c.3807T= (p.Ser1269=) c.1234T= c.1064T= n.666T= n.123T= c.3870T= (p.Ser1290=) c.3816T= (p.Ser1272=) c.3462T= (p.Ser1154=) c.2151T= (p.Ser717=) | |
1 | g.11787935A= | CA1153786459 | C1orf167,MTHFR | c.3250A= (p.Ser1084=) c.3736A= (p.Ser1246=) c.*2745T= (n.*2745T=) c.1886A= c.4839T= (n.4839T=) c.3808A= (p.Ser1270=) c.1235A= c.1065A= n.667A= n.124A= c.3871A= (p.Ser1291=) c.3817A= (p.Ser1273=) c.3463A= (p.Ser1155=) c.2152A= (p.Ser718=) | |
1 | g.11787935A>C | CA338469769 | C1orf167,MTHFR | c.3250A>C (p.Ser1084Arg) c.3736A>C (p.Ser1246Arg) c.*2745T>G (n.*2745T>G) c.1886A>C c.4839T>G (n.4839T>G) c.3808A>C (p.Ser1270Arg) c.1235A>C c.1065A>C n.667A>C n.124A>C c.3871A>C (p.Ser1291Arg) c.3817A>C (p.Ser1273Arg) c.3463A>C (p.Ser1155Arg) c.2152A>C (p.Ser718Arg) | |
1 | g.11787935A>G | CA338469771 | C1orf167,MTHFR | c.3250A>G (p.Ser1084Gly) c.3736A>G (p.Ser1246Gly) c.*2745T>C (n.*2745T>C) c.1886A>G c.4839T>C (n.4839T>C) c.3808A>G (p.Ser1270Gly) c.1235A>G c.1065A>G n.667A>G n.124A>G c.3871A>G (p.Ser1291Gly) c.3817A>G (p.Ser1273Gly) c.3463A>G (p.Ser1155Gly) c.2152A>G (p.Ser718Gly) | gnomAD v4 |
1 | g.11787935A>T | CA338469773 | C1orf167,MTHFR | c.3250A>T (p.Ser1084Cys) c.3736A>T (p.Ser1246Cys) c.*2745T>A (n.*2745T>A) c.1886A>T c.4839T>A (n.4839T>A) c.3808A>T (p.Ser1270Cys) c.1235A>T c.1065A>T n.667A>T n.124A>T c.3871A>T (p.Ser1291Cys) c.3817A>T (p.Ser1273Cys) c.3463A>T (p.Ser1155Cys) c.2152A>T (p.Ser718Cys) | dbSNP |
1 | g.11787935dup | CA2643295229 | C1orf167,MTHFR | c.3250dup (p.Ser1084LysfsTer22) c.3736dup (p.Ser1246LysfsTer22) c.*2745dup (n.*2745dup) c.1886dup c.4839dup (n.4839dup) c.3808dup (p.Ser1270LysfsTer22) c.1235dup c.1065dup n.667dup n.124dup c.3871dup (p.Ser1291LysfsTer22) c.3817dup (p.Ser1273LysfsTer22) c.3463dup (p.Ser1155LysfsTer22) c.2152dup (p.Ser718LysfsTer22) | gnomAD v4 |
1 | g.11787936G>A | CA338469776 | C1orf167,MTHFR | c.3251G>A (p.Ser1084Asn) c.3737G>A (p.Ser1246Asn) c.*2744C>T (n.*2744C>T) c.1887G>A c.4838C>T (n.4838C>T) c.3809G>A (p.Ser1270Asn) c.1236G>A c.1066G>A n.668G>A n.125G>A c.3872G>A (p.Ser1291Asn) c.3818G>A (p.Ser1273Asn) c.3464G>A (p.Ser1155Asn) c.2153G>A (p.Ser718Asn) | |
1 | g.11787936G>C | CA338469778 | C1orf167,MTHFR | c.3251G>C (p.Ser1084Thr) c.3737G>C (p.Ser1246Thr) c.*2744C>G (n.*2744C>G) c.1887G>C c.4838C>G (n.4838C>G) c.3809G>C (p.Ser1270Thr) c.1236G>C c.1066G>C n.668G>C n.125G>C c.3872G>C (p.Ser1291Thr) c.3818G>C (p.Ser1273Thr) c.3464G>C (p.Ser1155Thr) c.2153G>C (p.Ser718Thr) | |
1 | g.11787936G>T | CA338469780 | C1orf167,MTHFR | c.3251G>T (p.Ser1084Ile) c.3737G>T (p.Ser1246Ile) c.*2744C>A (n.*2744C>A) c.1887G>T c.4838C>A (n.4838C>A) c.3809G>T (p.Ser1270Ile) c.1236G>T c.1066G>T n.668G>T n.125G>T c.3872G>T (p.Ser1291Ile) c.3818G>T (p.Ser1273Ile) c.3464G>T (p.Ser1155Ile) c.2153G>T (p.Ser718Ile) | |
1 | g.11787937C>A | CA338469784 | C1orf167,MTHFR | c.3252C>A (p.Ser1084Arg) c.3738C>A (p.Ser1246Arg) c.*2743G>T (n.*2743G>T) c.1888C>A c.4837G>T (n.4837G>T) c.3810C>A (p.Ser1270Arg) c.1237C>A c.1067C>A n.669C>A n.126C>A c.3873C>A (p.Ser1291Arg) c.3819C>A (p.Ser1273Arg) c.3465C>A (p.Ser1155Arg) c.2154C>A (p.Ser718Arg) | |
1 | g.11787937C= | CA1153786462 | C1orf167,MTHFR | c.3252C= (p.Ser1084=) c.3738C= (p.Ser1246=) c.*2743G= (n.*2743G=) c.1888C= c.4837G= (n.4837G=) c.3810C= (p.Ser1270=) c.1237C= c.1067C= n.669C= n.126C= c.3873C= (p.Ser1291=) c.3819C= (p.Ser1273=) c.3465C= (p.Ser1155=) c.2154C= (p.Ser718=) | |
1 | g.11787937C>G | CA338469782 | C1orf167,MTHFR | c.3252C>G (p.Ser1084Arg) c.3738C>G (p.Ser1246Arg) c.*2743G>C (n.*2743G>C) c.1888C>G c.4837G>C (n.4837G>C) c.3810C>G (p.Ser1270Arg) c.1237C>G c.1067C>G n.669C>G n.126C>G c.3873C>G (p.Ser1291Arg) c.3819C>G (p.Ser1273Arg) c.3465C>G (p.Ser1155Arg) c.2154C>G (p.Ser718Arg) | dbSNP |
1 | g.11787937C>T | CA416361910 | C1orf167,MTHFR | c.3252C>T (p.Ser1084=) c.3738C>T (p.Ser1246=) c.*2743G>A (n.*2743G>A) c.1888C>T c.4837G>A (n.4837G>A) c.3810C>T (p.Ser1270=) c.1237C>T c.1067C>T n.669C>T n.126C>T c.3873C>T (p.Ser1291=) c.3819C>T (p.Ser1273=) c.3465C>T (p.Ser1155=) c.2154C>T (p.Ser718=) | |
1 | g.11787938T>A | CA338469785 | C1orf167,MTHFR | c.3253T>A (p.Trp1085Arg) c.3739T>A (p.Trp1247Arg) c.*2742A>T (n.*2742A>T) c.1889T>A c.4836A>T (n.4836A>T) c.3811T>A (p.Trp1271Arg) c.1238T>A c.1068T>A n.670T>A n.127T>A c.3874T>A (p.Trp1292Arg) c.3820T>A (p.Trp1274Arg) c.3466T>A (p.Trp1156Arg) c.2155T>A (p.Trp719Arg) | |
1 | g.11787938T>C | CA17995939 | C1orf167,MTHFR | c.3253T>C (p.Trp1085Arg) c.3739T>C (p.Trp1247Arg) c.*2742A>G (n.*2742A>G) c.1889T>C c.4836A>G (n.4836A>G) c.3811T>C (p.Trp1271Arg) c.1238T>C c.1068T>C n.670T>C n.127T>C c.3874T>C (p.Trp1292Arg) c.3820T>C (p.Trp1274Arg) c.3466T>C (p.Trp1156Arg) c.2155T>C (p.Trp719Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11787938T>G | CA338469786 | C1orf167,MTHFR | c.3253T>G (p.Trp1085Gly) c.3739T>G (p.Trp1247Gly) c.*2742A>C (n.*2742A>C) c.1889T>G c.4836A>C (n.4836A>C) c.3811T>G (p.Trp1271Gly) c.1238T>G c.1068T>G n.670T>G n.127T>G c.3874T>G (p.Trp1292Gly) c.3820T>G (p.Trp1274Gly) c.3466T>G (p.Trp1156Gly) c.2155T>G (p.Trp719Gly) | |
1 | g.11787938T= | CA1153786468 | C1orf167,MTHFR | c.3253T= (p.Trp1085=) c.3739T= (p.Trp1247=) c.*2742A= (n.*2742A=) c.1889T= c.4836A= (n.4836A=) c.3811T= (p.Trp1271=) c.1238T= c.1068T= n.670T= n.127T= c.3874T= (p.Trp1292=) c.3820T= (p.Trp1274=) c.3466T= (p.Trp1156=) c.2155T= (p.Trp719=) | |
1 | g.11787939G>A | CA338469788 | C1orf167,MTHFR | c.3254G>A (p.Trp1085Ter) c.3740G>A (p.Trp1247Ter) c.*2741C>T (n.*2741C>T) c.1890G>A c.4835C>T (n.4835C>T) c.3812G>A (p.Trp1271Ter) c.1239G>A c.1069G>A n.671G>A n.128G>A c.3875G>A (p.Trp1292Ter) c.3821G>A (p.Trp1274Ter) c.3467G>A (p.Trp1156Ter) c.2156G>A (p.Trp719Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11787939G>C | CA338469789 | C1orf167,MTHFR | c.3254G>C (p.Trp1085Ser) c.3740G>C (p.Trp1247Ser) c.*2741C>G (n.*2741C>G) c.1890G>C c.4835C>G (n.4835C>G) c.3812G>C (p.Trp1271Ser) c.1239G>C c.1069G>C n.671G>C n.128G>C c.3875G>C (p.Trp1292Ser) c.3821G>C (p.Trp1274Ser) c.3467G>C (p.Trp1156Ser) c.2156G>C (p.Trp719Ser) | |
1 | g.11787939G= | CA1153786469 | C1orf167,MTHFR | c.3254G= (p.Trp1085=) c.3740G= (p.Trp1247=) c.*2741C= (n.*2741C=) c.1890G= c.4835C= (n.4835C=) c.3812G= (p.Trp1271=) c.1239G= c.1069G= n.671G= n.128G= c.3875G= (p.Trp1292=) c.3821G= (p.Trp1274=) c.3467G= (p.Trp1156=) c.2156G= (p.Trp719=) | |
1 | g.11787939G>T | CA338469790 | C1orf167,MTHFR | c.3254G>T (p.Trp1085Leu) c.3740G>T (p.Trp1247Leu) c.*2741C>A (n.*2741C>A) c.1890G>T c.4835C>A (n.4835C>A) c.3812G>T (p.Trp1271Leu) c.1239G>T c.1069G>T n.671G>T n.128G>T c.3875G>T (p.Trp1292Leu) c.3821G>T (p.Trp1274Leu) c.3467G>T (p.Trp1156Leu) c.2156G>T (p.Trp719Leu) | |
1 | g.11787941del | CA2643295234 | C1orf167,MTHFR | c.3256del (p.Val1086SerfsTer?) c.3742del (p.Val1248SerfsTer?) c.*2741del (n.*2741del) c.1892del c.4835del (n.4835del) c.3814del (p.Val1272SerfsTer?) c.1241del c.1071del n.673del n.130del c.3877del (p.Val1293SerfsTer?) c.3823del (p.Val1275SerfsTer?) c.3469del (p.Val1157SerfsTer?) c.2158del (p.Val720SerfsTer?) | gnomAD v4 |
1 | g.11787940G>A | CA338469793 | C1orf167,MTHFR | c.3255G>A (p.Trp1085Ter) c.3741G>A (p.Trp1247Ter) c.*2740C>T (n.*2740C>T) c.1891G>A c.4834C>T (n.4834C>T) c.3813G>A (p.Trp1271Ter) c.1240G>A c.1070G>A n.672G>A n.129G>A c.3876G>A (p.Trp1292Ter) c.3822G>A (p.Trp1274Ter) c.3468G>A (p.Trp1156Ter) c.2157G>A (p.Trp719Ter) | dbSNP gnomAD v4 |
1 | g.11787940G>C | CA338469794 | C1orf167,MTHFR | c.3255G>C (p.Trp1085Cys) c.3741G>C (p.Trp1247Cys) c.*2740C>G (n.*2740C>G) c.1891G>C c.4834C>G (n.4834C>G) c.3813G>C (p.Trp1271Cys) c.1240G>C c.1070G>C n.672G>C n.129G>C c.3876G>C (p.Trp1292Cys) c.3822G>C (p.Trp1274Cys) c.3468G>C (p.Trp1156Cys) c.2157G>C (p.Trp719Cys) | dbSNP |
1 | g.11787940G= | CA1153786473 | C1orf167,MTHFR | c.3255G= (p.Trp1085=) c.3741G= (p.Trp1247=) c.*2740C= (n.*2740C=) c.1891G= c.4834C= (n.4834C=) c.3813G= (p.Trp1271=) c.1240G= c.1070G= n.672G= n.129G= c.3876G= (p.Trp1292=) c.3822G= (p.Trp1274=) c.3468G= (p.Trp1156=) c.2157G= (p.Trp719=) | |
1 | g.11787940G>T | CA338469796 | C1orf167,MTHFR | c.3255G>T (p.Trp1085Cys) c.3741G>T (p.Trp1247Cys) c.*2740C>A (n.*2740C>A) c.1891G>T c.4834C>A (n.4834C>A) c.3813G>T (p.Trp1271Cys) c.1240G>T c.1070G>T n.672G>T n.129G>T c.3876G>T (p.Trp1292Cys) c.3822G>T (p.Trp1274Cys) c.3468G>T (p.Trp1156Cys) c.2157G>T (p.Trp719Cys) | |
1 | g.11787941G>A | CA338469799 | C1orf167,MTHFR | c.3256G>A (p.Val1086Ile) c.3742G>A (p.Val1248Ile) c.*2739C>T (n.*2739C>T) c.1892G>A c.4833C>T (n.4833C>T) c.3814G>A (p.Val1272Ile) c.1241G>A c.1071G>A n.673G>A n.130G>A c.3877G>A (p.Val1293Ile) c.3823G>A (p.Val1275Ile) c.3469G>A (p.Val1157Ile) c.2158G>A (p.Val720Ile) | |
1 | g.11787941G>C | CA338469801 | C1orf167,MTHFR | c.3256G>C (p.Val1086Leu) c.3742G>C (p.Val1248Leu) c.*2739C>G (n.*2739C>G) c.1892G>C c.4833C>G (n.4833C>G) c.3814G>C (p.Val1272Leu) c.1241G>C c.1071G>C n.673G>C n.130G>C c.3877G>C (p.Val1293Leu) c.3823G>C (p.Val1275Leu) c.3469G>C (p.Val1157Leu) c.2158G>C (p.Val720Leu) | |
1 | g.11787941G= | CA1153786478 | C1orf167,MTHFR | c.3256G= (p.Val1086=) c.3742G= (p.Val1248=) c.*2739C= (n.*2739C=) c.1892G= c.4833C= (n.4833C=) c.3814G= (p.Val1272=) c.1241G= c.1071G= n.673G= n.130G= c.3877G= (p.Val1293=) c.3823G= (p.Val1275=) c.3469G= (p.Val1157=) c.2158G= (p.Val720=) | |
1 | g.11787941G>T | CA338469802 | C1orf167,MTHFR | c.3256G>T (p.Val1086Phe) c.3742G>T (p.Val1248Phe) c.*2739C>A (n.*2739C>A) c.1892G>T c.4833C>A (n.4833C>A) c.3814G>T (p.Val1272Phe) c.1241G>T c.1071G>T n.673G>T n.130G>T c.3877G>T (p.Val1293Phe) c.3823G>T (p.Val1275Phe) c.3469G>T (p.Val1157Phe) c.2158G>T (p.Val720Phe) | dbSNP gnomAD v4 |
1 | g.11787942T>A | CA338469804 | C1orf167,MTHFR | c.3257T>A (p.Val1086Asp) c.3743T>A (p.Val1248Asp) c.*2738A>T (n.*2738A>T) c.1893T>A c.4832A>T (n.4832A>T) c.3815T>A (p.Val1272Asp) c.1242T>A c.1072T>A n.674T>A n.131T>A c.3878T>A (p.Val1293Asp) c.3824T>A (p.Val1275Asp) c.3470T>A (p.Val1157Asp) c.2159T>A (p.Val720Asp) | |
1 | g.11787942T>C | CA338469806 | C1orf167,MTHFR | c.3257T>C (p.Val1086Ala) c.3743T>C (p.Val1248Ala) c.*2738A>G (n.*2738A>G) c.1893T>C c.4832A>G (n.4832A>G) c.3815T>C (p.Val1272Ala) c.1242T>C c.1072T>C n.674T>C n.131T>C c.3878T>C (p.Val1293Ala) c.3824T>C (p.Val1275Ala) c.3470T>C (p.Val1157Ala) c.2159T>C (p.Val720Ala) | |
1 | g.11787942T>G | CA338469808 | C1orf167,MTHFR | c.3257T>G (p.Val1086Gly) c.3743T>G (p.Val1248Gly) c.*2738A>C (n.*2738A>C) c.1893T>G c.4832A>C (n.4832A>C) c.3815T>G (p.Val1272Gly) c.1242T>G c.1072T>G n.674T>G n.131T>G c.3878T>G (p.Val1293Gly) c.3824T>G (p.Val1275Gly) c.3470T>G (p.Val1157Gly) c.2159T>G (p.Val720Gly) | dbSNP |
1 | g.11787942T= | CA1153786483 | C1orf167,MTHFR | c.3257T= (p.Val1086=) c.3743T= (p.Val1248=) c.*2738A= (n.*2738A=) c.1893T= c.4832A= (n.4832A=) c.3815T= (p.Val1272=) c.1242T= c.1072T= n.674T= n.131T= c.3878T= (p.Val1293=) c.3824T= (p.Val1275=) c.3470T= (p.Val1157=) c.2159T= (p.Val720=) | |
1 | g.11787943C>A | CA416361917 | C1orf167,MTHFR | c.3258C>A (p.Val1086=) c.3744C>A (p.Val1248=) c.*2737G>T (n.*2737G>T) c.1894C>A c.4831G>T (n.4831G>T) c.3816C>A (p.Val1272=) c.1243C>A c.1073C>A n.675C>A n.132C>A c.3879C>A (p.Val1293=) c.3825C>A (p.Val1275=) c.3471C>A (p.Val1157=) c.2160C>A (p.Val720=) | |
1 | g.11787943C= | CA1153786489 | C1orf167,MTHFR | c.3258C= (p.Val1086=) c.3744C= (p.Val1248=) c.*2737G= (n.*2737G=) c.1894C= c.4831G= (n.4831G=) c.3816C= (p.Val1272=) c.1243C= c.1073C= n.675C= n.132C= c.3879C= (p.Val1293=) c.3825C= (p.Val1275=) c.3471C= (p.Val1157=) c.2160C= (p.Val720=) | |
1 | g.11787943C>G | CA416361918 | C1orf167,MTHFR | c.3258C>G (p.Val1086=) c.3744C>G (p.Val1248=) c.*2737G>C (n.*2737G>C) c.1894C>G c.4831G>C (n.4831G>C) c.3816C>G (p.Val1272=) c.1243C>G c.1073C>G n.675C>G n.132C>G c.3879C>G (p.Val1293=) c.3825C>G (p.Val1275=) c.3471C>G (p.Val1157=) c.2160C>G (p.Val720=) | |
1 | g.11787943C>T | CA17995949 | C1orf167,MTHFR | c.3258C>T (p.Val1086=) c.3744C>T (p.Val1248=) c.*2737G>A (n.*2737G>A) c.1894C>T c.4831G>A (n.4831G>A) c.3816C>T (p.Val1272=) c.1243C>T c.1073C>T n.675C>T n.132C>T c.3879C>T (p.Val1293=) c.3825C>T (p.Val1275=) c.3471C>T (p.Val1157=) c.2160C>T (p.Val720=) | dbSNP |
1 | g.11787945dup | CA1153786486 | C1orf167,MTHFR | c.3260dup (p.Gly1088ArgfsTer18) c.3746dup (p.Gly1250ArgfsTer18) c.*2737dup (n.*2737dup) c.1896dup c.4831dup (n.4831dup) c.3818dup (p.Gly1274ArgfsTer18) c.1245dup c.1075dup n.677dup n.134dup c.3881dup (p.Gly1295ArgfsTer18) c.3827dup (p.Gly1277ArgfsTer18) c.3473dup (p.Gly1159ArgfsTer18) c.2162dup (p.Gly722ArgfsTer18) | dbSNP gnomAD v4 |
1 | g.11787944_11787945del | CA2695292918 | C1orf167,MTHFR | c.3259_3260del (p.Pro1087ArgfsTer18) c.3745_3746del (p.Pro1249ArgfsTer18) c.*2736_*2737del (n.*2736_*2737del) c.1895_1896del c.4830_4831del (n.4830_4831del) c.3817_3818del (p.Pro1273ArgfsTer18) c.1244_1245del c.1074_1075del n.676_677del n.133_134del c.3880_3881del (p.Pro1294ArgfsTer18) c.3826_3827del (p.Pro1276ArgfsTer18) c.3472_3473del (p.Pro1158ArgfsTer18) c.2161_2162del (p.Pro721ArgfsTer18) | dbSNP |
1 | g.11787944C>A | CA338469814 | C1orf167,MTHFR | c.3259C>A (p.Pro1087Thr) c.3745C>A (p.Pro1249Thr) c.*2736G>T (n.*2736G>T) c.1895C>A c.4830G>T (n.4830G>T) c.3817C>A (p.Pro1273Thr) c.1244C>A c.1074C>A n.676C>A n.133C>A c.3880C>A (p.Pro1294Thr) c.3826C>A (p.Pro1276Thr) c.3472C>A (p.Pro1158Thr) c.2161C>A (p.Pro721Thr) | |
1 | g.11787944C>G | CA338469810 | C1orf167,MTHFR | c.3259C>G (p.Pro1087Ala) c.3745C>G (p.Pro1249Ala) c.*2736G>C (n.*2736G>C) c.1895C>G c.4830G>C (n.4830G>C) c.3817C>G (p.Pro1273Ala) c.1244C>G c.1074C>G n.676C>G n.133C>G c.3880C>G (p.Pro1294Ala) c.3826C>G (p.Pro1276Ala) c.3472C>G (p.Pro1158Ala) c.2161C>G (p.Pro721Ala) | |
1 | g.11787944C>T | CA338469812 | C1orf167,MTHFR | c.3259C>T (p.Pro1087Ser) c.3745C>T (p.Pro1249Ser) c.*2736G>A (n.*2736G>A) c.1895C>T c.4830G>A (n.4830G>A) c.3817C>T (p.Pro1273Ser) c.1244C>T c.1074C>T n.676C>T n.133C>T c.3880C>T (p.Pro1294Ser) c.3826C>T (p.Pro1276Ser) c.3472C>T (p.Pro1158Ser) c.2161C>T (p.Pro721Ser) | |
1 | g.11787945C>A | CA338469816 | C1orf167,MTHFR | c.3260C>A (p.Pro1087Gln) c.3746C>A (p.Pro1249Gln) c.*2735G>T (n.*2735G>T) c.1896C>A c.4829G>T (n.4829G>T) c.3818C>A (p.Pro1273Gln) c.1245C>A c.1075C>A n.677C>A n.134C>A c.3881C>A (p.Pro1294Gln) c.3827C>A (p.Pro1276Gln) c.3473C>A (p.Pro1158Gln) c.2162C>A (p.Pro721Gln) | gnomAD v4 |
1 | g.11787945C= | CA1153786495 | C1orf167,MTHFR | c.3260C= (p.Pro1087=) c.3746C= (p.Pro1249=) c.*2735G= (n.*2735G=) c.1896C= c.4829G= (n.4829G=) c.3818C= (p.Pro1273=) c.1245C= c.1075C= n.677C= n.134C= c.3881C= (p.Pro1294=) c.3827C= (p.Pro1276=) c.3473C= (p.Pro1158=) c.2162C= (p.Pro721=) | |
1 | g.11787945C>G | CA338469818 | C1orf167,MTHFR | c.3260C>G (p.Pro1087Arg) c.3746C>G (p.Pro1249Arg) c.*2735G>C (n.*2735G>C) c.1896C>G c.4829G>C (n.4829G>C) c.3818C>G (p.Pro1273Arg) c.1245C>G c.1075C>G n.677C>G n.134C>G c.3881C>G (p.Pro1294Arg) c.3827C>G (p.Pro1276Arg) c.3473C>G (p.Pro1158Arg) c.2162C>G (p.Pro721Arg) | |
1 | g.11787945C>T | CA338469820 | C1orf167,MTHFR | c.3260C>T (p.Pro1087Leu) c.3746C>T (p.Pro1249Leu) c.*2735G>A (n.*2735G>A) c.1896C>T c.4829G>A (n.4829G>A) c.3818C>T (p.Pro1273Leu) c.1245C>T c.1075C>T n.677C>T n.134C>T c.3881C>T (p.Pro1294Leu) c.3827C>T (p.Pro1276Leu) c.3473C>T (p.Pro1158Leu) c.2162C>T (p.Pro721Leu) | dbSNP |
1 | g.11787946A>C | CA416361923 | C1orf167,MTHFR | c.3261A>C (p.Pro1087=) c.3747A>C (p.Pro1249=) c.*2734T>G (n.*2734T>G) c.1897A>C c.4828T>G (n.4828T>G) c.3819A>C (p.Pro1273=) c.1246A>C c.1076A>C n.678A>C n.135A>C c.3882A>C (p.Pro1294=) c.3828A>C (p.Pro1276=) c.3474A>C (p.Pro1158=) c.2163A>C (p.Pro721=) | |
1 | g.11787946A>G | CA416361924 | C1orf167,MTHFR | c.3261A>G (p.Pro1087=) c.3747A>G (p.Pro1249=) c.*2734T>C (n.*2734T>C) c.1897A>G c.4828T>C (n.4828T>C) c.3819A>G (p.Pro1273=) c.1246A>G c.1076A>G n.678A>G n.135A>G c.3882A>G (p.Pro1294=) c.3828A>G (p.Pro1276=) c.3474A>G (p.Pro1158=) c.2163A>G (p.Pro721=) | |
1 | g.11787946A>T | CA416361925 | C1orf167,MTHFR | c.3261A>T (p.Pro1087=) c.3747A>T (p.Pro1249=) c.*2734T>A (n.*2734T>A) c.1897A>T c.4828T>A (n.4828T>A) c.3819A>T (p.Pro1273=) c.1246A>T c.1076A>T n.678A>T n.135A>T c.3882A>T (p.Pro1294=) c.3828A>T (p.Pro1276=) c.3474A>T (p.Pro1158=) c.2163A>T (p.Pro721=) | |
1 | g.11787947G>A | CA338469823 | C1orf167,MTHFR | c.3262G>A (p.Gly1088Ser) c.3748G>A (p.Gly1250Ser) c.*2733C>T (n.*2733C>T) c.1898G>A c.4827C>T (n.4827C>T) c.3820G>A (p.Gly1274Ser) c.1247G>A c.1077G>A n.679G>A n.136G>A c.3883G>A (p.Gly1295Ser) c.3829G>A (p.Gly1277Ser) c.3475G>A (p.Gly1159Ser) c.2164G>A (p.Gly722Ser) | |
1 | g.11787947G>C | CA17995964 | C1orf167,MTHFR | c.3262G>C (p.Gly1088Arg) c.3748G>C (p.Gly1250Arg) c.*2733C>G (n.*2733C>G) c.1898G>C c.4827C>G (n.4827C>G) c.3820G>C (p.Gly1274Arg) c.1247G>C c.1077G>C n.679G>C n.136G>C c.3883G>C (p.Gly1295Arg) c.3829G>C (p.Gly1277Arg) c.3475G>C (p.Gly1159Arg) c.2164G>C (p.Gly722Arg) | dbSNP |
1 | g.11787947G= | CA1153786499 | C1orf167,MTHFR | c.3262G= (p.Gly1088=) c.3748G= (p.Gly1250=) c.*2733C= (n.*2733C=) c.1898G= c.4827C= (n.4827C=) c.3820G= (p.Gly1274=) c.1247G= c.1077G= n.679G= n.136G= c.3883G= (p.Gly1295=) c.3829G= (p.Gly1277=) c.3475G= (p.Gly1159=) c.2164G= (p.Gly722=) | |
1 | g.11787947G>T | CA338469826 | C1orf167,MTHFR | c.3262G>T (p.Gly1088Cys) c.3748G>T (p.Gly1250Cys) c.*2733C>A (n.*2733C>A) c.1898G>T c.4827C>A (n.4827C>A) c.3820G>T (p.Gly1274Cys) c.1247G>T c.1077G>T n.679G>T n.136G>T c.3883G>T (p.Gly1295Cys) c.3829G>T (p.Gly1277Cys) c.3475G>T (p.Gly1159Cys) c.2164G>T (p.Gly722Cys) | |
1 | g.11787948G>A | CA338469828 | C1orf167,MTHFR | c.3263G>A (p.Gly1088Asp) c.3749G>A (p.Gly1250Asp) c.*2732C>T (n.*2732C>T) c.1899G>A c.4826C>T (n.4826C>T) c.3821G>A (p.Gly1274Asp) c.1248G>A c.1078G>A n.680G>A n.137G>A c.3884G>A (p.Gly1295Asp) c.3830G>A (p.Gly1277Asp) c.3476G>A (p.Gly1159Asp) c.2165G>A (p.Gly722Asp) | |
1 | g.11787948G>C | CA338469830 | C1orf167,MTHFR | c.3263G>C (p.Gly1088Ala) c.3749G>C (p.Gly1250Ala) c.*2732C>G (n.*2732C>G) c.1899G>C c.4826C>G (n.4826C>G) c.3821G>C (p.Gly1274Ala) c.1248G>C c.1078G>C n.680G>C n.137G>C c.3884G>C (p.Gly1295Ala) c.3830G>C (p.Gly1277Ala) c.3476G>C (p.Gly1159Ala) c.2165G>C (p.Gly722Ala) | |
1 | g.11787948G= | CA1153786502 | C1orf167,MTHFR | c.3263G= (p.Gly1088=) c.3749G= (p.Gly1250=) c.*2732C= (n.*2732C=) c.1899G= c.4826C= (n.4826C=) c.3821G= (p.Gly1274=) c.1248G= c.1078G= n.680G= n.137G= c.3884G= (p.Gly1295=) c.3830G= (p.Gly1277=) c.3476G= (p.Gly1159=) c.2165G= (p.Gly722=) | |
1 | g.11787948G>T | CA17995978 | C1orf167,MTHFR | c.3263G>T (p.Gly1088Val) c.3749G>T (p.Gly1250Val) c.*2732C>A (n.*2732C>A) c.1899G>T c.4826C>A (n.4826C>A) c.3821G>T (p.Gly1274Val) c.1248G>T c.1078G>T n.680G>T n.137G>T c.3884G>T (p.Gly1295Val) c.3830G>T (p.Gly1277Val) c.3476G>T (p.Gly1159Val) c.2165G>T (p.Gly722Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11787949C>A | CA416361928 | C1orf167,MTHFR | c.3264C>A (p.Gly1088=) c.3750C>A (p.Gly1250=) c.*2731G>T (n.*2731G>T) c.1900C>A c.4825G>T (n.4825G>T) c.3822C>A (p.Gly1274=) c.1249C>A c.1079C>A n.681C>A n.138C>A c.3885C>A (p.Gly1295=) c.3831C>A (p.Gly1277=) c.3477C>A (p.Gly1159=) c.2166C>A (p.Gly722=) | gnomAD v4 |
1 | g.11787949C>G | CA416361929 | C1orf167,MTHFR | c.3264C>G (p.Gly1088=) c.3750C>G (p.Gly1250=) c.*2731G>C (n.*2731G>C) c.1900C>G c.4825G>C (n.4825G>C) c.3822C>G (p.Gly1274=) c.1249C>G c.1079C>G n.681C>G n.138C>G c.3885C>G (p.Gly1295=) c.3831C>G (p.Gly1277=) c.3477C>G (p.Gly1159=) c.2166C>G (p.Gly722=) | |
1 | g.11787949C>T | CA416361932 | C1orf167,MTHFR | c.3264C>T (p.Gly1088=) c.3750C>T (p.Gly1250=) c.*2731G>A (n.*2731G>A) c.1900C>T c.4825G>A (n.4825G>A) c.3822C>T (p.Gly1274=) c.1249C>T c.1079C>T n.681C>T n.138C>T c.3885C>T (p.Gly1295=) c.3831C>T (p.Gly1277=) c.3477C>T (p.Gly1159=) c.2166C>T (p.Gly722=) | |
1 | g.11787950C>A | CA338469834 | C1orf167,MTHFR | c.3265C>A (p.Leu1089Met) c.3751C>A (p.Leu1251Met) c.*2730G>T (n.*2730G>T) c.1901C>A c.4824G>T (n.4824G>T) c.3823C>A (p.Leu1275Met) c.1250C>A c.1080C>A n.682C>A n.139C>A c.3886C>A (p.Leu1296Met) c.3832C>A (p.Leu1278Met) c.3478C>A (p.Leu1160Met) c.2167C>A (p.Leu723Met) | gnomAD v4 |
1 | g.11787950C>G | CA338469836 | C1orf167,MTHFR | c.3265C>G (p.Leu1089Val) c.3751C>G (p.Leu1251Val) c.*2730G>C (n.*2730G>C) c.1901C>G c.4824G>C (n.4824G>C) c.3823C>G (p.Leu1275Val) c.1250C>G c.1080C>G n.682C>G n.139C>G c.3886C>G (p.Leu1296Val) c.3832C>G (p.Leu1278Val) c.3478C>G (p.Leu1160Val) c.2167C>G (p.Leu723Val) | |
1 | g.11787950C>T | CA416361934 | C1orf167,MTHFR | c.3265C>T (p.Leu1089=) c.3751C>T (p.Leu1251=) c.*2730G>A (n.*2730G>A) c.1901C>T c.4824G>A (n.4824G>A) c.3823C>T (p.Leu1275=) c.1250C>T c.1080C>T n.682C>T n.139C>T c.3886C>T (p.Leu1296=) c.3832C>T (p.Leu1278=) c.3478C>T (p.Leu1160=) c.2167C>T (p.Leu723=) | gnomAD v4 |
1 | g.11787951T>A | CA338469840 | C1orf167,MTHFR | c.3266T>A (p.Leu1089Gln) c.3752T>A (p.Leu1251Gln) c.*2729A>T (n.*2729A>T) c.1902T>A c.4823A>T (n.4823A>T) c.3824T>A (p.Leu1275Gln) c.1251T>A c.1081T>A n.683T>A n.140T>A c.3887T>A (p.Leu1296Gln) c.3833T>A (p.Leu1278Gln) c.3479T>A (p.Leu1160Gln) c.2168T>A (p.Leu723Gln) | |
1 | g.11787951T>C | CA338469842 | C1orf167,MTHFR | c.3266T>C (p.Leu1089Pro) c.3752T>C (p.Leu1251Pro) c.*2729A>G (n.*2729A>G) c.1902T>C c.4823A>G (n.4823A>G) c.3824T>C (p.Leu1275Pro) c.1251T>C c.1081T>C n.683T>C n.140T>C c.3887T>C (p.Leu1296Pro) c.3833T>C (p.Leu1278Pro) c.3479T>C (p.Leu1160Pro) c.2168T>C (p.Leu723Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11787951T>G | CA338469838 | C1orf167,MTHFR | c.3266T>G (p.Leu1089Arg) c.3752T>G (p.Leu1251Arg) c.*2729A>C (n.*2729A>C) c.1902T>G c.4823A>C (n.4823A>C) c.3824T>G (p.Leu1275Arg) c.1251T>G c.1081T>G n.683T>G n.140T>G c.3887T>G (p.Leu1296Arg) c.3833T>G (p.Leu1278Arg) c.3479T>G (p.Leu1160Arg) c.2168T>G (p.Leu723Arg) | |
1 | g.11787951T= | CA1153786507 | C1orf167,MTHFR | c.3266T= (p.Leu1089=) c.3752T= (p.Leu1251=) c.*2729A= (n.*2729A=) c.1902T= c.4823A= (n.4823A=) c.3824T= (p.Leu1275=) c.1251T= c.1081T= n.683T= n.140T= c.3887T= (p.Leu1296=) c.3833T= (p.Leu1278=) c.3479T= (p.Leu1160=) c.2168T= (p.Leu723=) | |
1 | g.11787952G>A | CA416361938 | C1orf167,MTHFR | c.3267G>A (p.Leu1089=) c.3753G>A (p.Leu1251=) c.*2728C>T (n.*2728C>T) c.1903G>A c.4822C>T (n.4822C>T) c.3825G>A (p.Leu1275=) c.1252G>A c.1082G>A n.684G>A n.141G>A c.3888G>A (p.Leu1296=) c.3834G>A (p.Leu1278=) c.3480G>A (p.Leu1160=) c.2169G>A (p.Leu723=) | |
1 | g.11787952G>C | CA416361940 | C1orf167,MTHFR | c.3267G>C (p.Leu1089=) c.3753G>C (p.Leu1251=) c.*2728C>G (n.*2728C>G) c.1903G>C c.4822C>G (n.4822C>G) c.3825G>C (p.Leu1275=) c.1252G>C c.1082G>C n.684G>C n.141G>C c.3888G>C (p.Leu1296=) c.3834G>C (p.Leu1278=) c.3480G>C (p.Leu1160=) c.2169G>C (p.Leu723=) | |
1 | g.11787952G= | CA1153786509 | C1orf167,MTHFR | c.3267G= (p.Leu1089=) c.3753G= (p.Leu1251=) c.*2728C= (n.*2728C=) c.1903G= c.4822C= (n.4822C=) c.3825G= (p.Leu1275=) c.1252G= c.1082G= n.684G= n.141G= c.3888G= (p.Leu1296=) c.3834G= (p.Leu1278=) c.3480G= (p.Leu1160=) c.2169G= (p.Leu723=) | |
1 | g.11787952G>T | CA416361941 | C1orf167,MTHFR | c.3267G>T (p.Leu1089=) c.3753G>T (p.Leu1251=) c.*2728C>A (n.*2728C>A) c.1903G>T c.4822C>A (n.4822C>A) c.3825G>T (p.Leu1275=) c.1252G>T c.1082G>T n.684G>T n.141G>T c.3888G>T (p.Leu1296=) c.3834G>T (p.Leu1278=) c.3480G>T (p.Leu1160=) c.2169G>T (p.Leu723=) | |
1 | g.11787953C>A | CA338469844 | C1orf167,MTHFR | c.3268C>A (p.Pro1090Thr) c.3754C>A (p.Pro1252Thr) c.*2727G>T (n.*2727G>T) c.1904C>A c.4821G>T (n.4821G>T) c.3826C>A (p.Pro1276Thr) c.1253C>A c.1083C>A n.685C>A n.142C>A c.3889C>A (p.Pro1297Thr) c.3835C>A (p.Pro1279Thr) c.3481C>A (p.Pro1161Thr) c.2170C>A (p.Pro724Thr) | gnomAD v4 |
1 | g.11787953C= | CA1153786513 | C1orf167,MTHFR | c.3268C= (p.Pro1090=) c.3754C= (p.Pro1252=) c.*2727G= (n.*2727G=) c.1904C= c.4821G= (n.4821G=) c.3826C= (p.Pro1276=) c.1253C= c.1083C= n.685C= n.142C= c.3889C= (p.Pro1297=) c.3835C= (p.Pro1279=) c.3481C= (p.Pro1161=) c.2170C= (p.Pro724=) | |
1 | g.11787953C>G | CA338469845 | C1orf167,MTHFR | c.3268C>G (p.Pro1090Ala) c.3754C>G (p.Pro1252Ala) c.*2727G>C (n.*2727G>C) c.1904C>G c.4821G>C (n.4821G>C) c.3826C>G (p.Pro1276Ala) c.1253C>G c.1083C>G n.685C>G n.142C>G c.3889C>G (p.Pro1297Ala) c.3835C>G (p.Pro1279Ala) c.3481C>G (p.Pro1161Ala) c.2170C>G (p.Pro724Ala) | |
1 | g.11787953C>T | CA338469846 | C1orf167,MTHFR | c.3268C>T (p.Pro1090Ser) c.3754C>T (p.Pro1252Ser) c.*2727G>A (n.*2727G>A) c.1904C>T c.4821G>A (n.4821G>A) c.3826C>T (p.Pro1276Ser) c.1253C>T c.1083C>T n.685C>T n.142C>T c.3889C>T (p.Pro1297Ser) c.3835C>T (p.Pro1279Ser) c.3481C>T (p.Pro1161Ser) c.2170C>T (p.Pro724Ser) | dbSNP gnomAD v4 |
1 | g.11787953_11787956delinsCCCC | CA1140552194 | C1orf167,MTHFR | c.3268_3271delinsCCCC (p.Pro1090=) c.3754_3757delinsCCCC (p.Pro1252=) c.*2724_*2727delinsGGGG (n.*2724_*2727delinsGGGG) c.1904_1907delinsCCCC c.4818_4821delinsGGGG (n.4818_4821delinsGGGG) c.3826_3829delinsCCCC (p.Pro1276=) c.1253_1256delinsCCCC c.1083_1086delinsCCCC n.142_145delinsCCCC c.3889_3892delinsCCCC (p.Pro1297=) c.3835_3838delinsCCCC (p.Pro1279=) c.3481_3484delinsCCCC (p.Pro1161=) c.2170_2173delinsCCCC (p.Pro724=) | |
1 | g.11787956dup | CA17995986 | C1orf167,MTHFR | c.3271dup (p.Leu1091ProfsTer15) c.3757dup (p.Leu1253ProfsTer15) c.*2727dup (n.*2727dup) c.1907dup c.4821dup (n.4821dup) c.3829dup (p.Leu1277ProfsTer15) c.1256dup c.1086dup n.145dup c.3892dup (p.Leu1298ProfsTer15) c.3838dup (p.Leu1280ProfsTer15) c.3484dup (p.Leu1162ProfsTer15) c.2173dup (p.Leu725ProfsTer15) | dbSNP |
1 | g.11787954C>A | CA338469847 | C1orf167,MTHFR | c.3269C>A (p.Pro1090His) c.3755C>A (p.Pro1252His) c.*2726G>T (n.*2726G>T) c.1905C>A c.4820G>T (n.4820G>T) c.3827C>A (p.Pro1276His) c.1254C>A c.1084C>A n.686C>A n.143C>A c.3890C>A (p.Pro1297His) c.3836C>A (p.Pro1279His) c.3482C>A (p.Pro1161His) c.2171C>A (p.Pro724His) | gnomAD v4 |
1 | g.11787954C>G | CA338469848 | C1orf167,MTHFR | c.3269C>G (p.Pro1090Arg) c.3755C>G (p.Pro1252Arg) c.*2726G>C (n.*2726G>C) c.1905C>G c.4820G>C (n.4820G>C) c.3827C>G (p.Pro1276Arg) c.1254C>G c.1084C>G n.686C>G n.143C>G c.3890C>G (p.Pro1297Arg) c.3836C>G (p.Pro1279Arg) c.3482C>G (p.Pro1161Arg) c.2171C>G (p.Pro724Arg) | |
1 | g.11787954C>T | CA338469849 | C1orf167,MTHFR | c.3269C>T (p.Pro1090Leu) c.3755C>T (p.Pro1252Leu) c.*2726G>A (n.*2726G>A) c.1905C>T c.4820G>A (n.4820G>A) c.3827C>T (p.Pro1276Leu) c.1254C>T c.1084C>T n.686C>T n.143C>T c.3890C>T (p.Pro1297Leu) c.3836C>T (p.Pro1279Leu) c.3482C>T (p.Pro1161Leu) c.2171C>T (p.Pro724Leu) | |
1 | g.11787955C>A | CA416361944 | C1orf167,MTHFR | c.3270C>A (p.Pro1090=) c.3756C>A (p.Pro1252=) c.*2725G>T (n.*2725G>T) c.1906C>A c.4819G>T (n.4819G>T) c.3828C>A (p.Pro1276=) c.1255C>A c.1085C>A n.687C>A n.144C>A c.3891C>A (p.Pro1297=) c.3837C>A (p.Pro1279=) c.3483C>A (p.Pro1161=) c.2172C>A (p.Pro724=) | |
1 | g.11787955C>G | CA416361946 | C1orf167,MTHFR | c.3270C>G (p.Pro1090=) c.3756C>G (p.Pro1252=) c.*2725G>C (n.*2725G>C) c.1906C>G c.4819G>C (n.4819G>C) c.3828C>G (p.Pro1276=) c.1255C>G c.1085C>G n.687C>G n.144C>G c.3891C>G (p.Pro1297=) c.3837C>G (p.Pro1279=) c.3483C>G (p.Pro1161=) c.2172C>G (p.Pro724=) | |
1 | g.11787955C>T | CA416361949 | C1orf167,MTHFR | c.3270C>T (p.Pro1090=) c.3756C>T (p.Pro1252=) c.*2725G>A (n.*2725G>A) c.1906C>T c.4819G>A (n.4819G>A) c.3828C>T (p.Pro1276=) c.1255C>T c.1085C>T n.687C>T n.144C>T c.3891C>T (p.Pro1297=) c.3837C>T (p.Pro1279=) c.3483C>T (p.Pro1161=) c.2172C>T (p.Pro724=) | |
1 | g.11787956C>A | CA338469850 | C1orf167,MTHFR | c.3271C>A (p.Leu1091Met) c.3757C>A (p.Leu1253Met) c.*2724G>T (n.*2724G>T) c.1907C>A c.4818G>T (n.4818G>T) c.3829C>A (p.Leu1277Met) c.1256C>A c.1086C>A n.145C>A c.3892C>A (p.Leu1298Met) c.3838C>A (p.Leu1280Met) c.3484C>A (p.Leu1162Met) c.2173C>A (p.Leu725Met) | gnomAD v4 |
1 | g.11787956C>G | CA338469851 | C1orf167,MTHFR | c.3271C>G (p.Leu1091Val) c.3757C>G (p.Leu1253Val) c.*2724G>C (n.*2724G>C) c.1907C>G c.4818G>C (n.4818G>C) c.3829C>G (p.Leu1277Val) c.1256C>G c.1086C>G n.145C>G c.3892C>G (p.Leu1298Val) c.3838C>G (p.Leu1280Val) c.3484C>G (p.Leu1162Val) c.2173C>G (p.Leu725Val) | |
1 | g.11787956C>T | CA416361950 | C1orf167,MTHFR | c.3271C>T (p.Leu1091=) c.3757C>T (p.Leu1253=) c.*2724G>A (n.*2724G>A) c.1907C>T c.4818G>A (n.4818G>A) c.3829C>T (p.Leu1277=) c.1256C>T c.1086C>T n.145C>T c.3892C>T (p.Leu1298=) c.3838C>T (p.Leu1280=) c.3484C>T (p.Leu1162=) c.2173C>T (p.Leu725=) | |
1 | g.11787957T>A | CA338469852 | C1orf167,MTHFR | c.3272T>A (p.Leu1091Gln) c.3758T>A (p.Leu1253Gln) c.*2723A>T (n.*2723A>T) c.1908T>A c.4817A>T (n.4817A>T) c.3830T>A (p.Leu1277Gln) c.1257T>A c.1087T>A n.146T>A c.3893T>A (p.Leu1298Gln) c.3839T>A (p.Leu1280Gln) c.3485T>A (p.Leu1162Gln) c.2174T>A (p.Leu725Gln) | gnomAD v4 |
1 | g.11787957T>C | CA338469853 | C1orf167,MTHFR | c.3272T>C (p.Leu1091Pro) c.3758T>C (p.Leu1253Pro) c.*2723A>G (n.*2723A>G) c.1908T>C c.4817A>G (n.4817A>G) c.3830T>C (p.Leu1277Pro) c.1257T>C c.1087T>C n.146T>C c.3893T>C (p.Leu1298Pro) c.3839T>C (p.Leu1280Pro) c.3485T>C (p.Leu1162Pro) c.2174T>C (p.Leu725Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11787957T>G | CA338469854 | C1orf167,MTHFR | c.3272T>G (p.Leu1091Arg) c.3758T>G (p.Leu1253Arg) c.*2723A>C (n.*2723A>C) c.1908T>G c.4817A>C (n.4817A>C) c.3830T>G (p.Leu1277Arg) c.1257T>G c.1087T>G n.146T>G c.3893T>G (p.Leu1298Arg) c.3839T>G (p.Leu1280Arg) c.3485T>G (p.Leu1162Arg) c.2174T>G (p.Leu725Arg) | |
1 | g.11787957T= | CA1153786517 | C1orf167,MTHFR | c.3272T= (p.Leu1091=) c.3758T= (p.Leu1253=) c.*2723A= (n.*2723A=) c.1908T= c.4817A= (n.4817A=) c.3830T= (p.Leu1277=) c.1257T= c.1087T= n.146T= c.3893T= (p.Leu1298=) c.3839T= (p.Leu1280=) c.3485T= (p.Leu1162=) c.2174T= (p.Leu725=) | |
1 | g.11787958G>A | CA416361951 | C1orf167,MTHFR | c.3273G>A (p.Leu1091=) c.3759G>A (p.Leu1253=) c.*2722C>T (n.*2722C>T) c.1909G>A c.4816C>T (n.4816C>T) c.3831G>A (p.Leu1277=) c.1258G>A c.1088G>A n.147G>A c.3894G>A (p.Leu1298=) c.3840G>A (p.Leu1280=) c.3486G>A (p.Leu1162=) c.2175G>A (p.Leu725=) | |
1 | g.11787958G>C | CA416361952 | C1orf167,MTHFR | c.3273G>C (p.Leu1091=) c.3759G>C (p.Leu1253=) c.*2722C>G (n.*2722C>G) c.1909G>C c.4816C>G (n.4816C>G) c.3831G>C (p.Leu1277=) c.1258G>C c.1088G>C n.147G>C c.3894G>C (p.Leu1298=) c.3840G>C (p.Leu1280=) c.3486G>C (p.Leu1162=) c.2175G>C (p.Leu725=) | |
1 | g.11787958G>T | CA416361954 | C1orf167,MTHFR | c.3273G>T (p.Leu1091=) c.3759G>T (p.Leu1253=) c.*2722C>A (n.*2722C>A) c.1909G>T c.4816C>A (n.4816C>A) c.3831G>T (p.Leu1277=) c.1258G>T c.1088G>T n.147G>T c.3894G>T (p.Leu1298=) c.3840G>T (p.Leu1280=) c.3486G>T (p.Leu1162=) c.2175G>T (p.Leu725=) | |
1 | g.11787959T>A | CA338469856 | C1orf167,MTHFR | c.3274T>A (p.Trp1092Arg) c.3760T>A (p.Trp1254Arg) c.*2721A>T (n.*2721A>T) c.1910T>A c.4815A>T (n.4815A>T) c.3832T>A (p.Trp1278Arg) c.1259T>A c.1089T>A n.148T>A c.3895T>A (p.Trp1299Arg) c.3841T>A (p.Trp1281Arg) c.3487T>A (p.Trp1163Arg) c.2176T>A (p.Trp726Arg) | |
1 | g.11787959T>C | CA338469857 | C1orf167,MTHFR | c.3274T>C (p.Trp1092Arg) c.3760T>C (p.Trp1254Arg) c.*2721A>G (n.*2721A>G) c.1910T>C c.4815A>G (n.4815A>G) c.3832T>C (p.Trp1278Arg) c.1259T>C c.1089T>C n.148T>C c.3895T>C (p.Trp1299Arg) c.3841T>C (p.Trp1281Arg) c.3487T>C (p.Trp1163Arg) c.2176T>C (p.Trp726Arg) | |
1 | g.11787959T>G | CA338469855 | C1orf167,MTHFR | c.3274T>G (p.Trp1092Gly) c.3760T>G (p.Trp1254Gly) c.*2721A>C (n.*2721A>C) c.1910T>G c.4815A>C (n.4815A>C) c.3832T>G (p.Trp1278Gly) c.1259T>G c.1089T>G n.148T>G c.3895T>G (p.Trp1299Gly) c.3841T>G (p.Trp1281Gly) c.3487T>G (p.Trp1163Gly) c.2176T>G (p.Trp726Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11787959T= | CA1153786520 | C1orf167,MTHFR | c.3274T= (p.Trp1092=) c.3760T= (p.Trp1254=) c.*2721A= (n.*2721A=) c.1910T= c.4815A= (n.4815A=) c.3832T= (p.Trp1278=) c.1259T= c.1089T= n.148T= c.3895T= (p.Trp1299=) c.3841T= (p.Trp1281=) c.3487T= (p.Trp1163=) c.2176T= (p.Trp726=) | |
1 | g.11787960G>A | CA338469858 | C1orf167,MTHFR | c.3275G>A (p.Trp1092Ter) c.3761G>A (p.Trp1254Ter) c.*2720C>T (n.*2720C>T) c.1911G>A c.4814C>T (n.4814C>T) c.3833G>A (p.Trp1278Ter) c.1260G>A c.1090G>A n.149G>A c.3896G>A (p.Trp1299Ter) c.3842G>A (p.Trp1281Ter) c.3488G>A (p.Trp1163Ter) c.2177G>A (p.Trp726Ter) | |
1 | g.11787960G>C | CA338469859 | C1orf167,MTHFR | c.3275G>C (p.Trp1092Ser) c.3761G>C (p.Trp1254Ser) c.*2720C>G (n.*2720C>G) c.1911G>C c.4814C>G (n.4814C>G) c.3833G>C (p.Trp1278Ser) c.1260G>C c.1090G>C n.149G>C c.3896G>C (p.Trp1299Ser) c.3842G>C (p.Trp1281Ser) c.3488G>C (p.Trp1163Ser) c.2177G>C (p.Trp726Ser) | |
1 | g.11787960G>T | CA338469860 | C1orf167,MTHFR | c.3275G>T (p.Trp1092Leu) c.3761G>T (p.Trp1254Leu) c.*2720C>A (n.*2720C>A) c.1911G>T c.4814C>A (n.4814C>A) c.3833G>T (p.Trp1278Leu) c.1260G>T c.1090G>T n.149G>T c.3896G>T (p.Trp1299Leu) c.3842G>T (p.Trp1281Leu) c.3488G>T (p.Trp1163Leu) c.2177G>T (p.Trp726Leu) | |
1 | g.11787961G>A | CA338469861 | C1orf167,MTHFR | c.3276G>A (p.Trp1092Ter) c.3762G>A (p.Trp1254Ter) c.*2719C>T (n.*2719C>T) c.1912G>A c.4813C>T (n.4813C>T) c.3834G>A (p.Trp1278Ter) c.1261G>A c.1091G>A n.150G>A c.3897G>A (p.Trp1299Ter) c.3843G>A (p.Trp1281Ter) c.3489G>A (p.Trp1163Ter) c.2178G>A (p.Trp726Ter) | |
1 | g.11787961G>C | CA338469862 | C1orf167,MTHFR | c.3276G>C (p.Trp1092Cys) c.3762G>C (p.Trp1254Cys) c.*2719C>G (n.*2719C>G) c.1912G>C c.4813C>G (n.4813C>G) c.3834G>C (p.Trp1278Cys) c.1261G>C c.1091G>C n.150G>C c.3897G>C (p.Trp1299Cys) c.3843G>C (p.Trp1281Cys) c.3489G>C (p.Trp1163Cys) c.2178G>C (p.Trp726Cys) | |
1 | g.11787961G>T | CA338469863 | C1orf167,MTHFR | c.3276G>T (p.Trp1092Cys) c.3762G>T (p.Trp1254Cys) c.*2719C>A (n.*2719C>A) c.1912G>T c.4813C>A (n.4813C>A) c.3834G>T (p.Trp1278Cys) c.1261G>T c.1091G>T n.150G>T c.3897G>T (p.Trp1299Cys) c.3843G>T (p.Trp1281Cys) c.3489G>T (p.Trp1163Cys) c.2178G>T (p.Trp726Cys) | |
1 | g.11787962A= | CA1153786522 | C1orf167,MTHFR | c.3277A= (p.Thr1093=) c.3763A= (p.Thr1255=) c.*2718T= (n.*2718T=) c.1913A= c.4812T= (n.4812T=) c.3835A= (p.Thr1279=) c.1262A= c.1092A= n.151A= c.3898A= (p.Thr1300=) c.3844A= (p.Thr1282=) c.3490A= (p.Thr1164=) c.2179A= (p.Thr727=) | |
1 | g.11787962A>C | CA338469866 | C1orf167,MTHFR | c.3277A>C (p.Thr1093Pro) c.3763A>C (p.Thr1255Pro) c.*2718T>G (n.*2718T>G) c.1913A>C c.4812T>G (n.4812T>G) c.3835A>C (p.Thr1279Pro) c.1262A>C c.1092A>C n.151A>C c.3898A>C (p.Thr1300Pro) c.3844A>C (p.Thr1282Pro) c.3490A>C (p.Thr1164Pro) c.2179A>C (p.Thr727Pro) | |
1 | g.11787962A>G | CA338469864 | C1orf167,MTHFR | c.3277A>G (p.Thr1093Ala) c.3763A>G (p.Thr1255Ala) c.*2718T>C (n.*2718T>C) c.1913A>G c.4812T>C (n.4812T>C) c.3835A>G (p.Thr1279Ala) c.1262A>G c.1092A>G n.151A>G c.3898A>G (p.Thr1300Ala) c.3844A>G (p.Thr1282Ala) c.3490A>G (p.Thr1164Ala) c.2179A>G (p.Thr727Ala) | dbSNP |
1 | g.11787962A>T | CA338469865 | C1orf167,MTHFR | c.3277A>T (p.Thr1093Ser) c.3763A>T (p.Thr1255Ser) c.*2718T>A (n.*2718T>A) c.1913A>T c.4812T>A (n.4812T>A) c.3835A>T (p.Thr1279Ser) c.1262A>T c.1092A>T n.151A>T c.3898A>T (p.Thr1300Ser) c.3844A>T (p.Thr1282Ser) c.3490A>T (p.Thr1164Ser) c.2179A>T (p.Thr727Ser) | gnomAD v4 |
1 | g.11787963C>A | CA338469867 | C1orf167,MTHFR | c.3278C>A (p.Thr1093Lys) c.3764C>A (p.Thr1255Lys) c.*2717G>T (n.*2717G>T) c.1914C>A c.4811G>T (n.4811G>T) c.3836C>A (p.Thr1279Lys) c.1263C>A c.1093C>A n.152C>A c.3899C>A (p.Thr1300Lys) c.3845C>A (p.Thr1282Lys) c.3491C>A (p.Thr1164Lys) c.2180C>A (p.Thr727Lys) | |
1 | g.11787963C= | CA1153786524 | C1orf167,MTHFR | c.3278C= (p.Thr1093=) c.3764C= (p.Thr1255=) c.*2717G= (n.*2717G=) c.1914C= c.4811G= (n.4811G=) c.3836C= (p.Thr1279=) c.1263C= c.1093C= n.152C= c.3899C= (p.Thr1300=) c.3845C= (p.Thr1282=) c.3491C= (p.Thr1164=) c.2180C= (p.Thr727=) | |
1 | g.11787963C>G | CA338469868 | C1orf167,MTHFR | c.3278C>G (p.Thr1093Arg) c.3764C>G (p.Thr1255Arg) c.*2717G>C (n.*2717G>C) c.1914C>G c.4811G>C (n.4811G>C) c.3836C>G (p.Thr1279Arg) c.1263C>G c.1093C>G n.152C>G c.3899C>G (p.Thr1300Arg) c.3845C>G (p.Thr1282Arg) c.3491C>G (p.Thr1164Arg) c.2180C>G (p.Thr727Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11787963C>T | CA17995998 | C1orf167,MTHFR | c.3278C>T (p.Thr1093Met) c.3764C>T (p.Thr1255Met) c.*2717G>A (n.*2717G>A) c.1914C>T c.4811G>A (n.4811G>A) c.3836C>T (p.Thr1279Met) c.1263C>T c.1093C>T n.152C>T c.3899C>T (p.Thr1300Met) c.3845C>T (p.Thr1282Met) c.3491C>T (p.Thr1164Met) c.2180C>T (p.Thr727Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11787964G>A | CA17996004 | C1orf167,MTHFR | c.3279G>A (p.Thr1093=) c.3765G>A (p.Thr1255=) c.*2716C>T (n.*2716C>T) c.1915G>A c.4810C>T (n.4810C>T) c.3837G>A (p.Thr1279=) c.1264G>A c.1094G>A n.153G>A c.3900G>A (p.Thr1300=) c.3846G>A (p.Thr1282=) c.3492G>A (p.Thr1164=) c.2181G>A (p.Thr727=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11787964G>C | CA416361969 | C1orf167,MTHFR | c.3279G>C (p.Thr1093=) c.3765G>C (p.Thr1255=) c.*2716C>G (n.*2716C>G) c.1915G>C c.4810C>G (n.4810C>G) c.3837G>C (p.Thr1279=) c.1264G>C c.1094G>C n.153G>C c.3900G>C (p.Thr1300=) c.3846G>C (p.Thr1282=) c.3492G>C (p.Thr1164=) c.2181G>C (p.Thr727=) | |
1 | g.11787964G= | CA1153786527 | C1orf167,MTHFR | c.3279G= (p.Thr1093=) c.3765G= (p.Thr1255=) c.*2716C= (n.*2716C=) c.1915G= c.4810C= (n.4810C=) c.3837G= (p.Thr1279=) c.1264G= c.1094G= n.153G= c.3900G= (p.Thr1300=) c.3846G= (p.Thr1282=) c.3492G= (p.Thr1164=) c.2181G= (p.Thr727=) | |
1 | g.11787964G>T | CA416361967 | C1orf167,MTHFR | c.3279G>T (p.Thr1093=) c.3765G>T (p.Thr1255=) c.*2716C>A (n.*2716C>A) c.1915G>T c.4810C>A (n.4810C>A) c.3837G>T (p.Thr1279=) c.1264G>T c.1094G>T n.153G>T c.3900G>T (p.Thr1300=) c.3846G>T (p.Thr1282=) c.3492G>T (p.Thr1164=) c.2181G>T (p.Thr727=) | gnomAD v4 |
1 | g.11787964_11787971delinsGAGGGACC | CA1153786529 | C1orf167,MTHFR | c.3279_3286delinsGAGGGACC (p.Thr1093=) c.3765_3772delinsGAGGGACC (p.Thr1255=) c.*2709_*2716delinsGGTCCCTC (n.*2709_*2716delinsGGTCCCTC) c.1915_1922delinsGAGGGACC c.4803_4810delinsGGTCCCTC (n.4803_4810delinsGGTCCCTC) c.3837_3844delinsGAGGGACC (p.Thr1279=) c.1264_1271delinsGAGGGACC c.1094_1101delinsGAGGGACC n.153_160delinsGAGGGACC c.3900_3907delinsGAGGGACC (p.Thr1300=) c.3846_3853delinsGAGGGACC (p.Thr1282=) c.3492_3499delinsGAGGGACC (p.Thr1164=) c.2181_2188delinsGAGGGACC (p.Thr727=) | |
1 | g.11787965A>C | CA416361972 | C1orf167,MTHFR | c.3280A>C (p.Arg1094=) c.3766A>C (p.Arg1256=) c.*2715T>G (n.*2715T>G) c.1916A>C c.4809T>G (n.4809T>G) c.3838A>C (p.Arg1280=) c.1265A>C c.1095A>C n.154A>C c.3901A>C (p.Arg1301=) c.3847A>C (p.Arg1283=) c.3493A>C (p.Arg1165=) c.2182A>C (p.Arg728=) | gnomAD v4 |
1 | g.11787965A>G | CA338469869 | C1orf167,MTHFR | c.3280A>G (p.Arg1094Gly) c.3766A>G (p.Arg1256Gly) c.*2715T>C (n.*2715T>C) c.1916A>G c.4809T>C (n.4809T>C) c.3838A>G (p.Arg1280Gly) c.1265A>G c.1095A>G n.154A>G c.3901A>G (p.Arg1301Gly) c.3847A>G (p.Arg1283Gly) c.3493A>G (p.Arg1165Gly) c.2182A>G (p.Arg728Gly) | gnomAD v4 |
1 | g.11787965A>T | CA338469870 | C1orf167,MTHFR | c.3280A>T (p.Arg1094Trp) c.3766A>T (p.Arg1256Trp) c.*2715T>A (n.*2715T>A) c.1916A>T c.4809T>A (n.4809T>A) c.3838A>T (p.Arg1280Trp) c.1265A>T c.1095A>T n.154A>T c.3901A>T (p.Arg1301Trp) c.3847A>T (p.Arg1283Trp) c.3493A>T (p.Arg1165Trp) c.2182A>T (p.Arg728Trp) | |
1 | g.11787965_11787966delinsAG | CA1153786533 | C1orf167,MTHFR | c.3280_3281delinsAG (p.Arg1094=) c.3766_3767delinsAG (p.Arg1256=) c.*2714_*2715delinsCT (n.*2714_*2715delinsCT) c.1916_1917delinsAG c.4808_4809delinsCT (n.4808_4809delinsCT) c.3838_3839delinsAG (p.Arg1280=) c.1265_1266delinsAG c.1095_1096delinsAG n.154_155delinsAG c.3901_3902delinsAG (p.Arg1301=) c.3847_3848delinsAG (p.Arg1283=) c.3493_3494delinsAG (p.Arg1165=) c.2182_2183delinsAG (p.Arg728=) | |
1 | g.11787973_11787979dup | CA2643295269 | C1orf167,MTHFR | c.3288_3294dup (p.Arg1099GlyfsTer9) c.3774_3780dup (p.Arg1261GlyfsTer9) c.*2709_*2715dup (n.*2709_*2715dup) c.1924_1930dup c.4803_4809dup (n.4803_4809dup) c.3846_3852dup (p.Arg1285GlyfsTer9) c.1273_1279dup c.1103_1109dup n.162_168dup c.3909_3915dup (p.Arg1306GlyfsTer9) c.3855_3861dup (p.Arg1288GlyfsTer9) c.3501_3507dup (p.Arg1170GlyfsTer9) c.2190_2196dup (p.Arg733GlyfsTer9) | gnomAD v4 |
1 | g.11787973_11787979del | CA1153786532 | C1orf167,MTHFR | c.3288_3294del (p.Gly1097GlufsTer?) c.3774_3780del (p.Gly1259GlufsTer?) c.*2709_*2715del (n.*2709_*2715del) c.1924_1930del c.4803_4809del (n.4803_4809del) c.3846_3852del (p.Gly1283GlufsTer?) c.1273_1279del c.1103_1109del n.162_168del c.3909_3915del (p.Gly1304GlufsTer?) c.3855_3861del (p.Gly1286GlufsTer?) c.3501_3507del (p.Gly1168GlufsTer?) c.2190_2196del (p.Gly731GlufsTer?) | dbSNP gnomAD v4 |
1 | g.11787966G>A | CA338469871 | C1orf167,MTHFR | c.3281G>A (p.Arg1094Lys) c.3767G>A (p.Arg1256Lys) c.*2714C>T (n.*2714C>T) c.1917G>A c.4808C>T (n.4808C>T) c.3839G>A (p.Arg1280Lys) c.1266G>A c.1096G>A n.155G>A c.3902G>A (p.Arg1301Lys) c.3848G>A (p.Arg1283Lys) c.3494G>A (p.Arg1165Lys) c.2183G>A (p.Arg728Lys) | gnomAD v4 |
1 | g.11787966G>C | CA338469873 | C1orf167,MTHFR | c.3281G>C (p.Arg1094Thr) c.3767G>C (p.Arg1256Thr) c.*2714C>G (n.*2714C>G) c.1917G>C c.4808C>G (n.4808C>G) c.3839G>C (p.Arg1280Thr) c.1266G>C c.1096G>C n.155G>C c.3902G>C (p.Arg1301Thr) c.3848G>C (p.Arg1283Thr) c.3494G>C (p.Arg1165Thr) c.2183G>C (p.Arg728Thr) | |
1 | g.11787966G>T | CA338469872 | C1orf167,MTHFR | c.3281G>T (p.Arg1094Met) c.3767G>T (p.Arg1256Met) c.*2714C>A (n.*2714C>A) c.1917G>T c.4808C>A (n.4808C>A) c.3839G>T (p.Arg1280Met) c.1266G>T c.1096G>T n.155G>T c.3902G>T (p.Arg1301Met) c.3848G>T (p.Arg1283Met) c.3494G>T (p.Arg1165Met) c.2183G>T (p.Arg728Met) | |
1 | g.11787968del | CA886036231 | C1orf167,MTHFR | c.3283del (p.Asp1095ThrfsTer?) c.3769del (p.Asp1257ThrfsTer?) c.*2714del (n.*2714del) c.1919del c.4808del (n.4808del) c.3841del (p.Asp1281ThrfsTer?) c.1268del c.1098del n.157del c.3904del (p.Asp1302ThrfsTer?) c.3850del (p.Asp1284ThrfsTer?) c.3496del (p.Asp1166ThrfsTer?) c.2185del (p.Asp729ThrfsTer?) | dbSNP gnomAD v4 |
1 | g.11787967G>A | CA416361974 | C1orf167,MTHFR | c.3282G>A (p.Arg1094=) c.3768G>A (p.Arg1256=) c.*2713C>T (n.*2713C>T) c.1918G>A c.4807C>T (n.4807C>T) c.3840G>A (p.Arg1280=) c.1267G>A c.1097G>A n.156G>A c.3903G>A (p.Arg1301=) c.3849G>A (p.Arg1283=) c.3495G>A (p.Arg1165=) c.2184G>A (p.Arg728=) | gnomAD v4 |
1 | g.11787967G>C | CA338469874 | C1orf167,MTHFR | c.3282G>C (p.Arg1094Ser) c.3768G>C (p.Arg1256Ser) c.*2713C>G (n.*2713C>G) c.1918G>C c.4807C>G (n.4807C>G) c.3840G>C (p.Arg1280Ser) c.1267G>C c.1097G>C n.156G>C c.3903G>C (p.Arg1301Ser) c.3849G>C (p.Arg1283Ser) c.3495G>C (p.Arg1165Ser) c.2184G>C (p.Arg728Ser) | |
1 | g.11787967G>T | CA338469875 | C1orf167,MTHFR | c.3282G>T (p.Arg1094Ser) c.3768G>T (p.Arg1256Ser) c.*2713C>A (n.*2713C>A) c.1918G>T c.4807C>A (n.4807C>A) c.3840G>T (p.Arg1280Ser) c.1267G>T c.1097G>T n.156G>T c.3903G>T (p.Arg1301Ser) c.3849G>T (p.Arg1283Ser) c.3495G>T (p.Arg1165Ser) c.2184G>T (p.Arg728Ser) | |
1 | g.11787968G>A | CA338469876 | C1orf167,MTHFR | c.3283G>A (p.Asp1095Asn) c.3769G>A (p.Asp1257Asn) c.*2712C>T (n.*2712C>T) c.1919G>A c.4806C>T (n.4806C>T) c.3841G>A (p.Asp1281Asn) c.1268G>A c.1098G>A n.157G>A c.3904G>A (p.Asp1302Asn) c.3850G>A (p.Asp1284Asn) c.3496G>A (p.Asp1166Asn) c.2185G>A (p.Asp729Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11787968G>C | CA338469878 | C1orf167,MTHFR | c.3283G>C (p.Asp1095His) c.3769G>C (p.Asp1257His) c.*2712C>G (n.*2712C>G) c.1919G>C c.4806C>G (n.4806C>G) c.3841G>C (p.Asp1281His) c.1268G>C c.1098G>C n.157G>C c.3904G>C (p.Asp1302His) c.3850G>C (p.Asp1284His) c.3496G>C (p.Asp1166His) c.2185G>C (p.Asp729His) | |
1 | g.11787968G= | CA1153786538 | C1orf167,MTHFR | c.3283G= (p.Asp1095=) c.3769G= (p.Asp1257=) c.*2712C= (n.*2712C=) c.1919G= c.4806C= (n.4806C=) c.3841G= (p.Asp1281=) c.1268G= c.1098G= n.157G= c.3904G= (p.Asp1302=) c.3850G= (p.Asp1284=) c.3496G= (p.Asp1166=) c.2185G= (p.Asp729=) | |
1 | g.11787968G>T | CA338469877 | C1orf167,MTHFR | c.3283G>T (p.Asp1095Tyr) c.3769G>T (p.Asp1257Tyr) c.*2712C>A (n.*2712C>A) c.1919G>T c.4806C>A (n.4806C>A) c.3841G>T (p.Asp1281Tyr) c.1268G>T c.1098G>T n.157G>T c.3904G>T (p.Asp1302Tyr) c.3850G>T (p.Asp1284Tyr) c.3496G>T (p.Asp1166Tyr) c.2185G>T (p.Asp729Tyr) | gnomAD v4 |
1 | g.11787969A>C | CA338469879 | C1orf167,MTHFR | c.3284A>C (p.Asp1095Ala) c.3770A>C (p.Asp1257Ala) c.*2711T>G (n.*2711T>G) c.1920A>C c.4805T>G (n.4805T>G) c.3842A>C (p.Asp1281Ala) c.1269A>C c.1099A>C n.158A>C c.3905A>C (p.Asp1302Ala) c.3851A>C (p.Asp1284Ala) c.3497A>C (p.Asp1166Ala) c.2186A>C (p.Asp729Ala) | |
1 | g.11787969A>G | CA338469881 | C1orf167,MTHFR | c.3284A>G (p.Asp1095Gly) c.3770A>G (p.Asp1257Gly) c.*2711T>C (n.*2711T>C) c.1920A>G c.4805T>C (n.4805T>C) c.3842A>G (p.Asp1281Gly) c.1269A>G c.1099A>G n.158A>G c.3905A>G (p.Asp1302Gly) c.3851A>G (p.Asp1284Gly) c.3497A>G (p.Asp1166Gly) c.2186A>G (p.Asp729Gly) | |
1 | g.11787969A>T | CA338469880 | C1orf167,MTHFR | c.3284A>T (p.Asp1095Val) c.3770A>T (p.Asp1257Val) c.*2711T>A (n.*2711T>A) c.1920A>T c.4805T>A (n.4805T>A) c.3842A>T (p.Asp1281Val) c.1269A>T c.1099A>T n.158A>T c.3905A>T (p.Asp1302Val) c.3851A>T (p.Asp1284Val) c.3497A>T (p.Asp1166Val) c.2186A>T (p.Asp729Val) | |
1 | g.11787970C>A | CA338469882 | C1orf167,MTHFR | c.3285C>A (p.Asp1095Glu) c.3771C>A (p.Asp1257Glu) c.*2710G>T (n.*2710G>T) c.1921C>A c.4804G>T (n.4804G>T) c.3843C>A (p.Asp1281Glu) c.1270C>A c.1100C>A n.159C>A c.3906C>A (p.Asp1302Glu) c.3852C>A (p.Asp1284Glu) c.3498C>A (p.Asp1166Glu) c.2187C>A (p.Asp729Glu) | |
1 | g.11787970C>G | CA338469883 | C1orf167,MTHFR | c.3285C>G (p.Asp1095Glu) c.3771C>G (p.Asp1257Glu) c.*2710G>C (n.*2710G>C) c.1921C>G c.4804G>C (n.4804G>C) c.3843C>G (p.Asp1281Glu) c.1270C>G c.1100C>G n.159C>G c.3906C>G (p.Asp1302Glu) c.3852C>G (p.Asp1284Glu) c.3498C>G (p.Asp1166Glu) c.2187C>G (p.Asp729Glu) | |
1 | g.11787970C>T | CA416361978 | C1orf167,MTHFR | c.3285C>T (p.Asp1095=) c.3771C>T (p.Asp1257=) c.*2710G>A (n.*2710G>A) c.1921C>T c.4804G>A (n.4804G>A) c.3843C>T (p.Asp1281=) c.1270C>T c.1100C>T n.159C>T c.3906C>T (p.Asp1302=) c.3852C>T (p.Asp1284=) c.3498C>T (p.Asp1166=) c.2187C>T (p.Asp729=) | |
1 | g.11787971C>A | CA338469884 | C1orf167,MTHFR | c.3286C>A (p.Gln1096Lys) c.3772C>A (p.Gln1258Lys) c.*2709G>T (n.*2709G>T) c.1922C>A c.4803G>T (n.4803G>T) c.3844C>A (p.Gln1282Lys) c.1271C>A c.1101C>A n.160C>A c.3907C>A (p.Gln1303Lys) c.3853C>A (p.Gln1285Lys) c.3499C>A (p.Gln1167Lys) c.2188C>A (p.Gln730Lys) | |
1 | g.11787971C>G | CA338469885 | C1orf167,MTHFR | c.3286C>G (p.Gln1096Glu) c.3772C>G (p.Gln1258Glu) c.*2709G>C (n.*2709G>C) c.1922C>G c.4803G>C (n.4803G>C) c.3844C>G (p.Gln1282Glu) c.1271C>G c.1101C>G n.160C>G c.3907C>G (p.Gln1303Glu) c.3853C>G (p.Gln1285Glu) c.3499C>G (p.Gln1167Glu) c.2188C>G (p.Gln730Glu) | |
1 | g.11787971C>T | CA338469886 | C1orf167,MTHFR | c.3286C>T (p.Gln1096Ter) c.3772C>T (p.Gln1258Ter) c.*2709G>A (n.*2709G>A) c.1922C>T c.4803G>A (n.4803G>A) c.3844C>T (p.Gln1282Ter) c.1271C>T c.1101C>T n.160C>T c.3907C>T (p.Gln1303Ter) c.3853C>T (p.Gln1285Ter) c.3499C>T (p.Gln1167Ter) c.2188C>T (p.Gln730Ter) | |
1 | g.11787972A>C | CA338469887 | C1orf167,MTHFR | c.3287A>C (p.Gln1096Pro) c.3773A>C (p.Gln1258Pro) c.*2708T>G (n.*2708T>G) c.1923A>C c.4802T>G (n.4802T>G) c.3845A>C (p.Gln1282Pro) c.1272A>C c.1102A>C n.161A>C c.3908A>C (p.Gln1303Pro) c.3854A>C (p.Gln1285Pro) c.3500A>C (p.Gln1167Pro) c.2189A>C (p.Gln730Pro) | gnomAD v4 |
1 | g.11787972A>G | CA338469888 | C1orf167,MTHFR | c.3287A>G (p.Gln1096Arg) c.3773A>G (p.Gln1258Arg) c.*2708T>C (n.*2708T>C) c.1923A>G c.4802T>C (n.4802T>C) c.3845A>G (p.Gln1282Arg) c.1272A>G c.1102A>G n.161A>G c.3908A>G (p.Gln1303Arg) c.3854A>G (p.Gln1285Arg) c.3500A>G (p.Gln1167Arg) c.2189A>G (p.Gln730Arg) | dbSNP |
1 | g.11787972A>T | CA338469889 | C1orf167,MTHFR | c.3287A>T (p.Gln1096Leu) c.3773A>T (p.Gln1258Leu) c.*2708T>A (n.*2708T>A) c.1923A>T c.4802T>A (n.4802T>A) c.3845A>T (p.Gln1282Leu) c.1272A>T c.1102A>T n.161A>T c.3908A>T (p.Gln1303Leu) c.3854A>T (p.Gln1285Leu) c.3500A>T (p.Gln1167Leu) c.2189A>T (p.Gln730Leu) | |
1 | g.11787973G>A | CA416361979 | C1orf167,MTHFR | c.3288G>A (p.Gln1096=) c.3774G>A (p.Gln1258=) c.*2707C>T (n.*2707C>T) c.1924G>A c.4801C>T (n.4801C>T) c.3846G>A (p.Gln1282=) c.1273G>A c.1103G>A n.162G>A c.3909G>A (p.Gln1303=) c.3855G>A (p.Gln1285=) c.3501G>A (p.Gln1167=) c.2190G>A (p.Gln730=) | |
1 | g.11787973G>C | CA338469890 | C1orf167,MTHFR | c.3288G>C (p.Gln1096His) c.3774G>C (p.Gln1258His) c.*2707C>G (n.*2707C>G) c.1924G>C c.4801C>G (n.4801C>G) c.3846G>C (p.Gln1282His) c.1273G>C c.1103G>C n.162G>C c.3909G>C (p.Gln1303His) c.3855G>C (p.Gln1285His) c.3501G>C (p.Gln1167His) c.2190G>C (p.Gln730His) | |
1 | g.11787973G>T | CA338469891 | C1orf167,MTHFR | c.3288G>T (p.Gln1096His) c.3774G>T (p.Gln1258His) c.*2707C>A (n.*2707C>A) c.1924G>T c.4801C>A (n.4801C>A) c.3846G>T (p.Gln1282His) c.1273G>T c.1103G>T n.162G>T c.3909G>T (p.Gln1303His) c.3855G>T (p.Gln1285His) c.3501G>T (p.Gln1167His) c.2190G>T (p.Gln730His) | |
1 | g.11787974G>A | CA338469894 | C1orf167,MTHFR | c.3289G>A (p.Gly1097Arg) c.3775G>A (p.Gly1259Arg) c.*2706C>T (n.*2706C>T) c.1925G>A c.4800C>T (n.4800C>T) c.3847G>A (p.Gly1283Arg) c.1274G>A c.1104G>A n.163G>A c.3910G>A (p.Gly1304Arg) c.3856G>A (p.Gly1286Arg) c.3502G>A (p.Gly1168Arg) c.2191G>A (p.Gly731Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.11787974G>C | CA338469893 | C1orf167,MTHFR | c.3289G>C (p.Gly1097Arg) c.3775G>C (p.Gly1259Arg) c.*2706C>G (n.*2706C>G) c.1925G>C c.4800C>G (n.4800C>G) c.3847G>C (p.Gly1283Arg) c.1274G>C c.1104G>C n.163G>C c.3910G>C (p.Gly1304Arg) c.3856G>C (p.Gly1286Arg) c.3502G>C (p.Gly1168Arg) c.2191G>C (p.Gly731Arg) | |
1 | g.11787974G= | CA1153786542 | C1orf167,MTHFR | c.3289G= (p.Gly1097=) c.3775G= (p.Gly1259=) c.*2706C= (n.*2706C=) c.1925G= c.4800C= (n.4800C=) c.3847G= (p.Gly1283=) c.1274G= c.1104G= n.163G= c.3910G= (p.Gly1304=) c.3856G= (p.Gly1286=) c.3502G= (p.Gly1168=) c.2191G= (p.Gly731=) | |
1 | g.11787974G>T | CA338469892 | C1orf167,MTHFR | c.3289G>T (p.Gly1097Ter) c.3775G>T (p.Gly1259Ter) c.*2706C>A (n.*2706C>A) c.1925G>T c.4800C>A (n.4800C>A) c.3847G>T (p.Gly1283Ter) c.1274G>T c.1104G>T n.163G>T c.3910G>T (p.Gly1304Ter) c.3856G>T (p.Gly1286Ter) c.3502G>T (p.Gly1168Ter) c.2191G>T (p.Gly731Ter) | |
1 | g.11787975G>A | CA338469895 | C1orf167,MTHFR | c.3290G>A (p.Gly1097Glu) c.3776G>A (p.Gly1259Glu) c.*2705C>T (n.*2705C>T) c.1926G>A c.4799C>T (n.4799C>T) c.3848G>A (p.Gly1283Glu) c.1275G>A c.1105G>A n.164G>A c.3911G>A (p.Gly1304Glu) c.3857G>A (p.Gly1286Glu) c.3503G>A (p.Gly1168Glu) c.2192G>A (p.Gly731Glu) | gnomAD v4 |
1 | g.11787975G>C | CA338469896 | C1orf167,MTHFR | c.3290G>C (p.Gly1097Ala) c.3776G>C (p.Gly1259Ala) c.*2705C>G (n.*2705C>G) c.1926G>C c.4799C>G (n.4799C>G) c.3848G>C (p.Gly1283Ala) c.1275G>C c.1105G>C n.164G>C c.3911G>C (p.Gly1304Ala) c.3857G>C (p.Gly1286Ala) c.3503G>C (p.Gly1168Ala) c.2192G>C (p.Gly731Ala) | |
1 | g.11787975G= | CA1153786543 | C1orf167,MTHFR | c.3290G= (p.Gly1097=) c.3776G= (p.Gly1259=) c.*2705C= (n.*2705C=) c.1926G= c.4799C= (n.4799C=) c.3848G= (p.Gly1283=) c.1275G= c.1105G= n.164G= c.3911G= (p.Gly1304=) c.3857G= (p.Gly1286=) c.3503G= (p.Gly1168=) c.2192G= (p.Gly731=) | |
1 | g.11787975G>T | CA338469897 | C1orf167,MTHFR | c.3290G>T (p.Gly1097Val) c.3776G>T (p.Gly1259Val) c.*2705C>A (n.*2705C>A) c.1926G>T c.4799C>A (n.4799C>A) c.3848G>T (p.Gly1283Val) c.1275G>T c.1105G>T n.164G>T c.3911G>T (p.Gly1304Val) c.3857G>T (p.Gly1286Val) c.3503G>T (p.Gly1168Val) c.2192G>T (p.Gly731Val) | dbSNP gnomAD v4 |
1 | g.11787976A>C | CA416361982 | C1orf167,MTHFR | c.3291A>C (p.Gly1097=) c.3777A>C (p.Gly1259=) c.*2704T>G (n.*2704T>G) c.1927A>C c.4798T>G (n.4798T>G) c.3849A>C (p.Gly1283=) c.1276A>C c.1106A>C n.165A>C c.3912A>C (p.Gly1304=) c.3858A>C (p.Gly1286=) c.3504A>C (p.Gly1168=) c.2193A>C (p.Gly731=) | |
1 | g.11787976A>G | CA416361984 | C1orf167,MTHFR | c.3291A>G (p.Gly1097=) c.3777A>G (p.Gly1259=) c.*2704T>C (n.*2704T>C) c.1927A>G c.4798T>C (n.4798T>C) c.3849A>G (p.Gly1283=) c.1276A>G c.1106A>G n.165A>G c.3912A>G (p.Gly1304=) c.3858A>G (p.Gly1286=) c.3504A>G (p.Gly1168=) c.2193A>G (p.Gly731=) | |
1 | g.11787976A>T | CA416361986 | C1orf167,MTHFR | c.3291A>T (p.Gly1097=) c.3777A>T (p.Gly1259=) c.*2704T>A (n.*2704T>A) c.1927A>T c.4798T>A (n.4798T>A) c.3849A>T (p.Gly1283=) c.1276A>T c.1106A>T n.165A>T c.3912A>T (p.Gly1304=) c.3858A>T (p.Gly1286=) c.3504A>T (p.Gly1168=) c.2193A>T (p.Gly731=) | |
1 | g.11787976_11787982dup | CA2643295284 | C1orf167,MTHFR | c.3291_3297dup (p.Ala1100ThrfsTer8) c.3777_3783dup (p.Ala1262ThrfsTer8) c.*2698_*2704dup (n.*2698_*2704dup) c.1927_1933dup c.4792_4798dup (n.4792_4798dup) c.3849_3855dup (p.Ala1286ThrfsTer8) c.1276_1282dup c.1106_1112dup n.165_171dup c.3912_3918dup (p.Ala1307ThrfsTer8) c.3858_3864dup (p.Ala1289ThrfsTer8) c.3504_3510dup (p.Ala1171ThrfsTer8) c.2193_2199dup (p.Ala734ThrfsTer8) | gnomAD v4 |
1 | g.11787977C>A | CA338469898 | C1orf167,MTHFR | c.3292C>A (p.Pro1098Thr) c.3778C>A (p.Pro1260Thr) c.*2703G>T (n.*2703G>T) c.1928C>A c.4797G>T (n.4797G>T) c.3850C>A (p.Pro1284Thr) c.1277C>A c.1107C>A n.166C>A c.3913C>A (p.Pro1305Thr) c.3859C>A (p.Pro1287Thr) c.3505C>A (p.Pro1169Thr) c.2194C>A (p.Pro732Thr) | |
1 | g.11787977C>G | CA338469899 | C1orf167,MTHFR | c.3292C>G (p.Pro1098Ala) c.3778C>G (p.Pro1260Ala) c.*2703G>C (n.*2703G>C) c.1928C>G c.4797G>C (n.4797G>C) c.3850C>G (p.Pro1284Ala) c.1277C>G c.1107C>G n.166C>G c.3913C>G (p.Pro1305Ala) c.3859C>G (p.Pro1287Ala) c.3505C>G (p.Pro1169Ala) c.2194C>G (p.Pro732Ala) | |
1 | g.11787977C>T | CA338469900 | C1orf167,MTHFR | c.3292C>T (p.Pro1098Ser) c.3778C>T (p.Pro1260Ser) c.*2703G>A (n.*2703G>A) c.1928C>T c.4797G>A (n.4797G>A) c.3850C>T (p.Pro1284Ser) c.1277C>T c.1107C>T n.166C>T c.3913C>T (p.Pro1305Ser) c.3859C>T (p.Pro1287Ser) c.3505C>T (p.Pro1169Ser) c.2194C>T (p.Pro732Ser) | |
1 | g.11787978C>A | CA338469901 | C1orf167,MTHFR | c.3293C>A (p.Pro1098Gln) c.3779C>A (p.Pro1260Gln) c.*2702G>T (n.*2702G>T) c.1929C>A c.4796G>T (n.4796G>T) c.3851C>A (p.Pro1284Gln) c.1278C>A c.1108C>A n.167C>A c.3914C>A (p.Pro1305Gln) c.3860C>A (p.Pro1287Gln) c.3506C>A (p.Pro1169Gln) c.2195C>A (p.Pro732Gln) | |
1 | g.11787978C= | CA1153786545 | C1orf167,MTHFR | c.3293C= (p.Pro1098=) c.3779C= (p.Pro1260=) c.*2702G= (n.*2702G=) c.1929C= c.4796G= (n.4796G=) c.3851C= (p.Pro1284=) c.1278C= c.1108C= n.167C= c.3914C= (p.Pro1305=) c.3860C= (p.Pro1287=) c.3506C= (p.Pro1169=) c.2195C= (p.Pro732=) | |
1 | g.11787978C>G | CA338469902 | C1orf167,MTHFR | c.3293C>G (p.Pro1098Arg) c.3779C>G (p.Pro1260Arg) c.*2702G>C (n.*2702G>C) c.1929C>G c.4796G>C (n.4796G>C) c.3851C>G (p.Pro1284Arg) c.1278C>G c.1108C>G n.167C>G c.3914C>G (p.Pro1305Arg) c.3860C>G (p.Pro1287Arg) c.3506C>G (p.Pro1169Arg) c.2195C>G (p.Pro732Arg) | dbSNP |
1 | g.11787978C>T | CA338469903 | C1orf167,MTHFR | c.3293C>T (p.Pro1098Leu) c.3779C>T (p.Pro1260Leu) c.*2702G>A (n.*2702G>A) c.1929C>T c.4796G>A (n.4796G>A) c.3851C>T (p.Pro1284Leu) c.1278C>T c.1108C>T n.167C>T c.3914C>T (p.Pro1305Leu) c.3860C>T (p.Pro1287Leu) c.3506C>T (p.Pro1169Leu) c.2195C>T (p.Pro732Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11787979A>C | CA416361989 | C1orf167,MTHFR | c.3294A>C (p.Pro1098=) c.3780A>C (p.Pro1260=) c.*2701T>G (n.*2701T>G) c.1930A>C c.4795T>G (n.4795T>G) c.3852A>C (p.Pro1284=) c.1279A>C c.1109A>C n.168A>C c.3915A>C (p.Pro1305=) c.3861A>C (p.Pro1287=) c.3507A>C (p.Pro1169=) c.2196A>C (p.Pro732=) | |
1 | g.11787979A>G | CA416361990 | C1orf167,MTHFR | c.3294A>G (p.Pro1098=) c.3780A>G (p.Pro1260=) c.*2701T>C (n.*2701T>C) c.1930A>G c.4795T>C (n.4795T>C) c.3852A>G (p.Pro1284=) c.1279A>G c.1109A>G n.168A>G c.3915A>G (p.Pro1305=) c.3861A>G (p.Pro1287=) c.3507A>G (p.Pro1169=) c.2196A>G (p.Pro732=) | |
1 | g.11787979A>T | CA416361991 | C1orf167,MTHFR | c.3294A>T (p.Pro1098=) c.3780A>T (p.Pro1260=) c.*2701T>A (n.*2701T>A) c.1930A>T c.4795T>A (n.4795T>A) c.3852A>T (p.Pro1284=) c.1279A>T c.1109A>T n.168A>T c.3915A>T (p.Pro1305=) c.3861A>T (p.Pro1287=) c.3507A>T (p.Pro1169=) c.2196A>T (p.Pro732=) | |
1 | g.11787980A>C | CA416361995 | C1orf167,MTHFR | c.3295A>C (p.Arg1099=) c.3781A>C (p.Arg1261=) c.*2700T>G (n.*2700T>G) c.1931A>C c.4794T>G (n.4794T>G) c.3853A>C (p.Arg1285=) c.1280A>C c.1110A>C n.169A>C c.3916A>C (p.Arg1306=) c.3862A>C (p.Arg1288=) c.3508A>C (p.Arg1170=) c.2197A>C (p.Arg733=) | |
1 | g.11787980A>G | CA338469904 | C1orf167,MTHFR | c.3295A>G (p.Arg1099Gly) c.3781A>G (p.Arg1261Gly) c.*2700T>C (n.*2700T>C) c.1931A>G c.4794T>C (n.4794T>C) c.3853A>G (p.Arg1285Gly) c.1280A>G c.1110A>G n.169A>G c.3916A>G (p.Arg1306Gly) c.3862A>G (p.Arg1288Gly) c.3508A>G (p.Arg1170Gly) c.2197A>G (p.Arg733Gly) | |
1 | g.11787980A>T | CA338469905 | C1orf167,MTHFR | c.3295A>T (p.Arg1099Ter) c.3781A>T (p.Arg1261Ter) c.*2700T>A (n.*2700T>A) c.1931A>T c.4794T>A (n.4794T>A) c.3853A>T (p.Arg1285Ter) c.1280A>T c.1110A>T n.169A>T c.3916A>T (p.Arg1306Ter) c.3862A>T (p.Arg1288Ter) c.3508A>T (p.Arg1170Ter) c.2197A>T (p.Arg733Ter) | |
1 | g.11787981G>A | CA338469907 | C1orf167,MTHFR | c.3296G>A (p.Arg1099Lys) c.3782G>A (p.Arg1261Lys) c.*2699C>T (n.*2699C>T) c.1932G>A c.4793C>T (n.4793C>T) c.3854G>A (p.Arg1285Lys) c.1281G>A c.1111G>A n.170G>A c.3917G>A (p.Arg1306Lys) c.3863G>A (p.Arg1288Lys) c.3509G>A (p.Arg1170Lys) c.2198G>A (p.Arg733Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11787981G>C | CA338469908 | C1orf167,MTHFR | c.3296G>C (p.Arg1099Thr) c.3782G>C (p.Arg1261Thr) c.*2699C>G (n.*2699C>G) c.1932G>C c.4793C>G (n.4793C>G) c.3854G>C (p.Arg1285Thr) c.1281G>C c.1111G>C n.170G>C c.3917G>C (p.Arg1306Thr) c.3863G>C (p.Arg1288Thr) c.3509G>C (p.Arg1170Thr) c.2198G>C (p.Arg733Thr) | |
1 | g.11787981G= | CA1153786547 | C1orf167,MTHFR | c.3296G= (p.Arg1099=) c.3782G= (p.Arg1261=) c.*2699C= (n.*2699C=) c.1932G= c.4793C= (n.4793C=) c.3854G= (p.Arg1285=) c.1281G= c.1111G= n.170G= c.3917G= (p.Arg1306=) c.3863G= (p.Arg1288=) c.3509G= (p.Arg1170=) c.2198G= (p.Arg733=) | |
1 | g.11787981G>T | CA338469906 | C1orf167,MTHFR | c.3296G>T (p.Arg1099Ile) c.3782G>T (p.Arg1261Ile) c.*2699C>A (n.*2699C>A) c.1932G>T c.4793C>A (n.4793C>A) c.3854G>T (p.Arg1285Ile) c.1281G>T c.1111G>T n.170G>T c.3917G>T (p.Arg1306Ile) c.3863G>T (p.Arg1288Ile) c.3509G>T (p.Arg1170Ile) c.2198G>T (p.Arg733Ile) | |
1 | g.11787982A>C | CA338469909 | C1orf167,MTHFR | c.3297A>C (p.Arg1099Ser) c.3783A>C (p.Arg1261Ser) c.*2698T>G (n.*2698T>G) c.1933A>C c.4792T>G (n.4792T>G) c.3855A>C (p.Arg1285Ser) c.1282A>C c.1112A>C n.171A>C c.3918A>C (p.Arg1306Ser) c.3864A>C (p.Arg1288Ser) c.3510A>C (p.Arg1170Ser) c.2199A>C (p.Arg733Ser) | |
1 | g.11787982A>G | CA416361996 | C1orf167,MTHFR | c.3297A>G (p.Arg1099=) c.3783A>G (p.Arg1261=) c.*2698T>C (n.*2698T>C) c.1933A>G c.4792T>C (n.4792T>C) c.3855A>G (p.Arg1285=) c.1282A>G c.1112A>G n.171A>G c.3918A>G (p.Arg1306=) c.3864A>G (p.Arg1288=) c.3510A>G (p.Arg1170=) c.2199A>G (p.Arg733=) | |
1 | g.11787982A>T | CA338469910 | C1orf167,MTHFR | c.3297A>T (p.Arg1099Ser) c.3783A>T (p.Arg1261Ser) c.*2698T>A (n.*2698T>A) c.1933A>T c.4792T>A (n.4792T>A) c.3855A>T (p.Arg1285Ser) c.1282A>T c.1112A>T n.171A>T c.3918A>T (p.Arg1306Ser) c.3864A>T (p.Arg1288Ser) c.3510A>T (p.Arg1170Ser) c.2199A>T (p.Arg733Ser) |