| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11788010_11788025del | CA2574214321 | C1orf167,MTHFR | c.3325_3340del (p.Cys1109ArgfsTer25) c.3811_3826del (p.Cys1271ArgfsTer30) c.*2655_*2670del (n.*2655_*2670del) c.1961_1976del c.4749_4764del (n.4749_4764del) c.3883_3898del (p.Cys1295ArgfsTer25) c.1310_1325del c.1140_1155del n.199_214del c.3946_3961del (p.Cys1316ArgfsTer30) c.3892_3907del (p.Cys1298ArgfsTer30) c.3946_3961del (p.Cys1316ArgfsTer?) c.3538_3553del (p.Cys1180ArgfsTer30) c.2227_2242del (p.Cys743ArgfsTer30) | |
| 1 | g.11788011G>A | CA338469970 | C1orf167,MTHFR | c.3326G>A (p.Cys1109Tyr) c.3812G>A (p.Cys1271Tyr) c.*2669C>T (n.*2669C>T) c.1962G>A c.4763C>T (n.4763C>T) c.3884G>A (p.Cys1295Tyr) c.1311G>A c.1141G>A n.200G>A c.3947G>A (p.Cys1316Tyr) c.3893G>A (p.Cys1298Tyr) c.3539G>A (p.Cys1180Tyr) c.2228G>A (p.Cys743Tyr) | gnomAD v4 |
| 1 | g.11788011G>C | CA595062 | C1orf167,MTHFR | c.3326G>C (p.Cys1109Ser) c.3812G>C (p.Cys1271Ser) c.*2669C>G (n.*2669C>G) c.1962G>C c.4763C>G (n.4763C>G) c.3884G>C (p.Cys1295Ser) c.1311G>C c.1141G>C n.200G>C c.3947G>C (p.Cys1316Ser) c.3893G>C (p.Cys1298Ser) c.3539G>C (p.Cys1180Ser) c.2228G>C (p.Cys743Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11788011G= | CA1139878581 | C1orf167,MTHFR | c.3326G= (p.Cys1109=) c.3812G= (p.Cys1271=) c.*2669C= (n.*2669C=) c.1962G= c.4763C= (n.4763C=) c.3884G= (p.Cys1295=) c.1311G= c.1141G= n.200G= c.3947G= (p.Cys1316=) c.3893G= (p.Cys1298=) c.3539G= (p.Cys1180=) c.2228G= (p.Cys743=) | |
| 1 | g.11788011G>T | CA338469969 | C1orf167,MTHFR | c.3326G>T (p.Cys1109Phe) c.3812G>T (p.Cys1271Phe) c.*2669C>A (n.*2669C>A) c.1962G>T c.4763C>A (n.4763C>A) c.3884G>T (p.Cys1295Phe) c.1311G>T c.1141G>T n.200G>T c.3947G>T (p.Cys1316Phe) c.3893G>T (p.Cys1298Phe) c.3539G>T (p.Cys1180Phe) c.2228G>T (p.Cys743Phe) | |
| 1 | g.11788015_11788026del | CA2643295367 | C1orf167,MTHFR | c.3330_3341del (p.Ala1111_Lys1114del) c.3816_3827del (p.Ala1273_Lys1276del) c.*2658_*2669del (n.*2658_*2669del) c.1966_1977del c.4752_4763del (n.4752_4763del) c.3888_3899del (p.Ala1297_Lys1300del) c.1315_1326del c.1145_1156del n.204_215del c.3951_3962del (p.Ala1318_Lys1321del) c.3897_3908del (p.Ala1300_Lys1303del) c.3543_3554del (p.Ala1182_Lys1185del) c.2232_2243del (p.Ala745_Lys748del) | gnomAD v4 |
| 1 | g.11788012C>A | CA338469971 | C1orf167,MTHFR | c.3327C>A (p.Cys1109Ter) c.3813C>A (p.Cys1271Ter) c.*2668G>T (n.*2668G>T) c.1963C>A c.4762G>T (n.4762G>T) c.3885C>A (p.Cys1295Ter) c.1312C>A c.1142C>A n.201C>A c.3948C>A (p.Cys1316Ter) c.3894C>A (p.Cys1298Ter) c.3540C>A (p.Cys1180Ter) c.2229C>A (p.Cys743Ter) | gnomAD v4 |
| 1 | g.11788012C= | CA1153786629 | C1orf167,MTHFR | c.3327C= (p.Cys1109=) c.3813C= (p.Cys1271=) c.*2668G= (n.*2668G=) c.1963C= c.4762G= (n.4762G=) c.3885C= (p.Cys1295=) c.1312C= c.1142C= n.201C= c.3948C= (p.Cys1316=) c.3894C= (p.Cys1298=) c.3540C= (p.Cys1180=) c.2229C= (p.Cys743=) | |
| 1 | g.11788012C>G | CA338469972 | C1orf167,MTHFR | c.3327C>G (p.Cys1109Trp) c.3813C>G (p.Cys1271Trp) c.*2668G>C (n.*2668G>C) c.1963C>G c.4762G>C (n.4762G>C) c.3885C>G (p.Cys1295Trp) c.1312C>G c.1142C>G n.201C>G c.3948C>G (p.Cys1316Trp) c.3894C>G (p.Cys1298Trp) c.3540C>G (p.Cys1180Trp) c.2229C>G (p.Cys743Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11788012C>T | CA416362049 | C1orf167,MTHFR | c.3327C>T (p.Cys1109=) c.3813C>T (p.Cys1271=) c.*2668G>A (n.*2668G>A) c.1963C>T c.4762G>A (n.4762G>A) c.3885C>T (p.Cys1295=) c.1312C>T c.1142C>T n.201C>T c.3948C>T (p.Cys1316=) c.3894C>T (p.Cys1298=) c.3540C>T (p.Cys1180=) c.2229C>T (p.Cys743=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11788013A= | CA1153786632 | C1orf167,MTHFR | c.3328A= (p.Lys1110=) c.3814A= (p.Lys1272=) c.*2667T= (n.*2667T=) c.1964A= c.4761T= (n.4761T=) c.3886A= (p.Lys1296=) c.1313A= c.1143A= n.202A= c.3949A= (p.Lys1317=) c.3895A= (p.Lys1299=) c.3541A= (p.Lys1181=) c.2230A= (p.Lys744=) | |
| 1 | g.11788013A>C | CA338469973 | C1orf167,MTHFR | c.3328A>C (p.Lys1110Gln) c.3814A>C (p.Lys1272Gln) c.*2667T>G (n.*2667T>G) c.1964A>C c.4761T>G (n.4761T>G) c.3886A>C (p.Lys1296Gln) c.1313A>C c.1143A>C n.202A>C c.3949A>C (p.Lys1317Gln) c.3895A>C (p.Lys1299Gln) c.3541A>C (p.Lys1181Gln) c.2230A>C (p.Lys744Gln) | |
| 1 | g.11788013A>G | CA338469974 | C1orf167,MTHFR | c.3328A>G (p.Lys1110Glu) c.3814A>G (p.Lys1272Glu) c.*2667T>C (n.*2667T>C) c.1964A>G c.4761T>C (n.4761T>C) c.3886A>G (p.Lys1296Glu) c.1313A>G c.1143A>G n.202A>G c.3949A>G (p.Lys1317Glu) c.3895A>G (p.Lys1299Glu) c.3541A>G (p.Lys1181Glu) c.2230A>G (p.Lys744Glu) | dbSNP gnomAD v4 |
| 1 | g.11788013A>T | CA338469975 | C1orf167,MTHFR | c.3328A>T (p.Lys1110Ter) c.3814A>T (p.Lys1272Ter) c.*2667T>A (n.*2667T>A) c.1964A>T c.4761T>A (n.4761T>A) c.3886A>T (p.Lys1296Ter) c.1313A>T c.1143A>T n.202A>T c.3949A>T (p.Lys1317Ter) c.3895A>T (p.Lys1299Ter) c.3541A>T (p.Lys1181Ter) c.2230A>T (p.Lys744Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11788014A= | CA1153786636 | C1orf167,MTHFR | c.3329A= (p.Lys1110=) c.3815A= (p.Lys1272=) c.*2666T= (n.*2666T=) c.1965A= c.4760T= (n.4760T=) c.3887A= (p.Lys1296=) c.1314A= c.1144A= n.203A= c.3950A= (p.Lys1317=) c.3896A= (p.Lys1299=) c.3542A= (p.Lys1181=) c.2231A= (p.Lys744=) | |
| 1 | g.11788014A>C | CA338469976 | C1orf167,MTHFR | c.3329A>C (p.Lys1110Thr) c.3815A>C (p.Lys1272Thr) c.*2666T>G (n.*2666T>G) c.1965A>C c.4760T>G (n.4760T>G) c.3887A>C (p.Lys1296Thr) c.1314A>C c.1144A>C n.203A>C c.3950A>C (p.Lys1317Thr) c.3896A>C (p.Lys1299Thr) c.3542A>C (p.Lys1181Thr) c.2231A>C (p.Lys744Thr) | |
| 1 | g.11788014A>G | CA338469978 | C1orf167,MTHFR | c.3329A>G (p.Lys1110Arg) c.3815A>G (p.Lys1272Arg) c.*2666T>C (n.*2666T>C) c.1965A>G c.4760T>C (n.4760T>C) c.3887A>G (p.Lys1296Arg) c.1314A>G c.1144A>G n.203A>G c.3950A>G (p.Lys1317Arg) c.3896A>G (p.Lys1299Arg) c.3542A>G (p.Lys1181Arg) c.2231A>G (p.Lys744Arg) | dbSNP |
| 1 | g.11788014A>T | CA338469977 | C1orf167,MTHFR | c.3329A>T (p.Lys1110Ile) c.3815A>T (p.Lys1272Ile) c.*2666T>A (n.*2666T>A) c.1965A>T c.4760T>A (n.4760T>A) c.3887A>T (p.Lys1296Ile) c.1314A>T c.1144A>T n.203A>T c.3950A>T (p.Lys1317Ile) c.3896A>T (p.Lys1299Ile) c.3542A>T (p.Lys1181Ile) c.2231A>T (p.Lys744Ile) | |
| 1 | g.11788015A>C | CA338469979 | C1orf167,MTHFR | c.3330A>C (p.Lys1110Asn) c.3816A>C (p.Lys1272Asn) c.*2665T>G (n.*2665T>G) c.1966A>C c.4759T>G (n.4759T>G) c.3888A>C (p.Lys1296Asn) c.1315A>C c.1145A>C n.204A>C c.3951A>C (p.Lys1317Asn) c.3897A>C (p.Lys1299Asn) c.3543A>C (p.Lys1181Asn) c.2232A>C (p.Lys744Asn) | |
| 1 | g.11788015A>G | CA416362055 | C1orf167,MTHFR | c.3330A>G (p.Lys1110=) c.3816A>G (p.Lys1272=) c.*2665T>C (n.*2665T>C) c.1966A>G c.4759T>C (n.4759T>C) c.3888A>G (p.Lys1296=) c.1315A>G c.1145A>G n.204A>G c.3951A>G (p.Lys1317=) c.3897A>G (p.Lys1299=) c.3543A>G (p.Lys1181=) c.2232A>G (p.Lys744=) | |
| 1 | g.11788015A>T | CA338469980 | C1orf167,MTHFR | c.3330A>T (p.Lys1110Asn) c.3816A>T (p.Lys1272Asn) c.*2665T>A (n.*2665T>A) c.1966A>T c.4759T>A (n.4759T>A) c.3888A>T (p.Lys1296Asn) c.1315A>T c.1145A>T n.204A>T c.3951A>T (p.Lys1317Asn) c.3897A>T (p.Lys1299Asn) c.3543A>T (p.Lys1181Asn) c.2232A>T (p.Lys744Asn) | |
| 1 | g.11788016G>A | CA338469981 | C1orf167,MTHFR | c.3331G>A (p.Ala1111Thr) c.3817G>A (p.Ala1273Thr) c.*2664C>T (n.*2664C>T) c.1967G>A c.4758C>T (n.4758C>T) c.3889G>A (p.Ala1297Thr) c.1316G>A c.1146G>A n.205G>A c.3952G>A (p.Ala1318Thr) c.3898G>A (p.Ala1300Thr) c.3544G>A (p.Ala1182Thr) c.2233G>A (p.Ala745Thr) | |
| 1 | g.11788016G>C | CA338469982 | C1orf167,MTHFR | c.3331G>C (p.Ala1111Pro) c.3817G>C (p.Ala1273Pro) c.*2664C>G (n.*2664C>G) c.1967G>C c.4758C>G (n.4758C>G) c.3889G>C (p.Ala1297Pro) c.1316G>C c.1146G>C n.205G>C c.3952G>C (p.Ala1318Pro) c.3898G>C (p.Ala1300Pro) c.3544G>C (p.Ala1182Pro) c.2233G>C (p.Ala745Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11788016G= | CA1153786640 | C1orf167,MTHFR | c.3331G= (p.Ala1111=) c.3817G= (p.Ala1273=) c.*2664C= (n.*2664C=) c.1967G= c.4758C= (n.4758C=) c.3889G= (p.Ala1297=) c.1316G= c.1146G= n.205G= c.3952G= (p.Ala1318=) c.3898G= (p.Ala1300=) c.3544G= (p.Ala1182=) c.2233G= (p.Ala745=) | |
| 1 | g.11788016G>T | CA338469983 | C1orf167,MTHFR | c.3331G>T (p.Ala1111Ser) c.3817G>T (p.Ala1273Ser) c.*2664C>A (n.*2664C>A) c.1967G>T c.4758C>A (n.4758C>A) c.3889G>T (p.Ala1297Ser) c.1316G>T c.1146G>T n.205G>T c.3952G>T (p.Ala1318Ser) c.3898G>T (p.Ala1300Ser) c.3544G>T (p.Ala1182Ser) c.2233G>T (p.Ala745Ser) | dbSNP |
| 1 | g.11788017C>A | CA338469984 | C1orf167,MTHFR | c.3332C>A (p.Ala1111Asp) c.3818C>A (p.Ala1273Asp) c.*2663G>T (n.*2663G>T) c.1968C>A c.4757G>T (n.4757G>T) c.3890C>A (p.Ala1297Asp) c.1317C>A c.1147C>A n.206C>A c.3953C>A (p.Ala1318Asp) c.3899C>A (p.Ala1300Asp) c.3545C>A (p.Ala1182Asp) c.2234C>A (p.Ala745Asp) | gnomAD v4 |
| 1 | g.11788017C>G | CA338469985 | C1orf167,MTHFR | c.3332C>G (p.Ala1111Gly) c.3818C>G (p.Ala1273Gly) c.*2663G>C (n.*2663G>C) c.1968C>G c.4757G>C (n.4757G>C) c.3890C>G (p.Ala1297Gly) c.1317C>G c.1147C>G n.206C>G c.3953C>G (p.Ala1318Gly) c.3899C>G (p.Ala1300Gly) c.3545C>G (p.Ala1182Gly) c.2234C>G (p.Ala745Gly) | |
| 1 | g.11788017C>T | CA338469986 | C1orf167,MTHFR | c.3332C>T (p.Ala1111Val) c.3818C>T (p.Ala1273Val) c.*2663G>A (n.*2663G>A) c.1968C>T c.4757G>A (n.4757G>A) c.3890C>T (p.Ala1297Val) c.1317C>T c.1147C>T n.206C>T c.3953C>T (p.Ala1318Val) c.3899C>T (p.Ala1300Val) c.3545C>T (p.Ala1182Val) c.2234C>T (p.Ala745Val) | |
| 1 | g.11788018C>A | CA416362060 | C1orf167,MTHFR | c.3333C>A (p.Ala1111=) c.3819C>A (p.Ala1273=) c.*2662G>T (n.*2662G>T) c.1969C>A c.4756G>T (n.4756G>T) c.3891C>A (p.Ala1297=) c.1318C>A c.1148C>A n.207C>A c.3954C>A (p.Ala1318=) c.3900C>A (p.Ala1300=) c.3546C>A (p.Ala1182=) c.2235C>A (p.Ala745=) | gnomAD v4 |
| 1 | g.11788018C>G | CA416362062 | C1orf167,MTHFR | c.3333C>G (p.Ala1111=) c.3819C>G (p.Ala1273=) c.*2662G>C (n.*2662G>C) c.1969C>G c.4756G>C (n.4756G>C) c.3891C>G (p.Ala1297=) c.1318C>G c.1148C>G n.207C>G c.3954C>G (p.Ala1318=) c.3900C>G (p.Ala1300=) c.3546C>G (p.Ala1182=) c.2235C>G (p.Ala745=) | |
| 1 | g.11788018C>T | CA416362065 | C1orf167,MTHFR | c.3333C>T (p.Ala1111=) c.3819C>T (p.Ala1273=) c.*2662G>A (n.*2662G>A) c.1969C>T c.4756G>A (n.4756G>A) c.3891C>T (p.Ala1297=) c.1318C>T c.1148C>T n.207C>T c.3954C>T (p.Ala1318=) c.3900C>T (p.Ala1300=) c.3546C>T (p.Ala1182=) c.2235C>T (p.Ala745=) | |
| 1 | g.11788019C>A | CA338469987 | C1orf167,MTHFR | c.3334C>A (p.Gln1112Lys) c.3820C>A (p.Gln1274Lys) c.*2661G>T (n.*2661G>T) c.1970C>A c.4755G>T (n.4755G>T) c.3892C>A (p.Gln1298Lys) c.1319C>A c.1149C>A n.208C>A c.3955C>A (p.Gln1319Lys) c.3901C>A (p.Gln1301Lys) c.3547C>A (p.Gln1183Lys) c.2236C>A (p.Gln746Lys) | |
| 1 | g.11788019C= | CA1153786643 | C1orf167,MTHFR | c.3334C= (p.Gln1112=) c.3820C= (p.Gln1274=) c.*2661G= (n.*2661G=) c.1970C= c.4755G= (n.4755G=) c.3892C= (p.Gln1298=) c.1319C= c.1149C= n.208C= c.3955C= (p.Gln1319=) c.3901C= (p.Gln1301=) c.3547C= (p.Gln1183=) c.2236C= (p.Gln746=) | |
| 1 | g.11788019C>G | CA338469988 | C1orf167,MTHFR | c.3334C>G (p.Gln1112Glu) c.3820C>G (p.Gln1274Glu) c.*2661G>C (n.*2661G>C) c.1970C>G c.4755G>C (n.4755G>C) c.3892C>G (p.Gln1298Glu) c.1319C>G c.1149C>G n.208C>G c.3955C>G (p.Gln1319Glu) c.3901C>G (p.Gln1301Glu) c.3547C>G (p.Gln1183Glu) c.2236C>G (p.Gln746Glu) | |
| 1 | g.11788019C>T | CA17996080 | C1orf167,MTHFR | c.3334C>T (p.Gln1112Ter) c.3820C>T (p.Gln1274Ter) c.*2661G>A (n.*2661G>A) c.1970C>T c.4755G>A (n.4755G>A) c.3892C>T (p.Gln1298Ter) c.1319C>T c.1149C>T n.208C>T c.3955C>T (p.Gln1319Ter) c.3901C>T (p.Gln1301Ter) c.3547C>T (p.Gln1183Ter) c.2236C>T (p.Gln746Ter) | dbSNP |
| 1 | g.11788020A>C | CA338469990 | C1orf167,MTHFR | c.3335A>C (p.Gln1112Pro) c.3821A>C (p.Gln1274Pro) c.*2660T>G (n.*2660T>G) c.1971A>C c.4754T>G (n.4754T>G) c.3893A>C (p.Gln1298Pro) c.1320A>C c.1150A>C n.209A>C c.3956A>C (p.Gln1319Pro) c.3902A>C (p.Gln1301Pro) c.3548A>C (p.Gln1183Pro) c.2237A>C (p.Gln746Pro) | |
| 1 | g.11788020A>G | CA338469991 | C1orf167,MTHFR | c.3335A>G (p.Gln1112Arg) c.3821A>G (p.Gln1274Arg) c.*2660T>C (n.*2660T>C) c.1971A>G c.4754T>C (n.4754T>C) c.3893A>G (p.Gln1298Arg) c.1320A>G c.1150A>G n.209A>G c.3956A>G (p.Gln1319Arg) c.3902A>G (p.Gln1301Arg) c.3548A>G (p.Gln1183Arg) c.2237A>G (p.Gln746Arg) | |
| 1 | g.11788020A>T | CA338469989 | C1orf167,MTHFR | c.3335A>T (p.Gln1112Leu) c.3821A>T (p.Gln1274Leu) c.*2660T>A (n.*2660T>A) c.1971A>T c.4754T>A (n.4754T>A) c.3893A>T (p.Gln1298Leu) c.1320A>T c.1150A>T n.209A>T c.3956A>T (p.Gln1319Leu) c.3902A>T (p.Gln1301Leu) c.3548A>T (p.Gln1183Leu) c.2237A>T (p.Gln746Leu) | |
| 1 | g.11788021A>C | CA338469992 | C1orf167,MTHFR | c.3336A>C (p.Gln1112His) c.3822A>C (p.Gln1274His) c.*2659T>G (n.*2659T>G) c.1972A>C c.4753T>G (n.4753T>G) c.3894A>C (p.Gln1298His) c.1321A>C c.1151A>C n.210A>C c.3957A>C (p.Gln1319His) c.3903A>C (p.Gln1301His) c.3549A>C (p.Gln1183His) c.2238A>C (p.Gln746His) | |
| 1 | g.11788021A>G | CA416362069 | C1orf167,MTHFR | c.3336A>G (p.Gln1112=) c.3822A>G (p.Gln1274=) c.*2659T>C (n.*2659T>C) c.1972A>G c.4753T>C (n.4753T>C) c.3894A>G (p.Gln1298=) c.1321A>G c.1151A>G n.210A>G c.3957A>G (p.Gln1319=) c.3903A>G (p.Gln1301=) c.3549A>G (p.Gln1183=) c.2238A>G (p.Gln746=) | |
| 1 | g.11788021A>T | CA338469993 | C1orf167,MTHFR | c.3336A>T (p.Gln1112His) c.3822A>T (p.Gln1274His) c.*2659T>A (n.*2659T>A) c.1972A>T c.4753T>A (n.4753T>A) c.3894A>T (p.Gln1298His) c.1321A>T c.1151A>T n.210A>T c.3957A>T (p.Gln1319His) c.3903A>T (p.Gln1301His) c.3549A>T (p.Gln1183His) c.2238A>T (p.Gln746His) | |
| 1 | g.11788022A>C | CA338469994 | C1orf167,MTHFR | c.3337A>C (p.Ser1113Arg) c.3823A>C (p.Ser1275Arg) c.*2658T>G (n.*2658T>G) c.1973A>C c.4752T>G (n.4752T>G) c.3895A>C (p.Ser1299Arg) c.1322A>C c.1152A>C n.211A>C c.3958A>C (p.Ser1320Arg) c.3904A>C (p.Ser1302Arg) c.3550A>C (p.Ser1184Arg) c.2239A>C (p.Ser747Arg) | |
| 1 | g.11788022A>G | CA338469996 | C1orf167,MTHFR | c.3337A>G (p.Ser1113Gly) c.3823A>G (p.Ser1275Gly) c.*2658T>C (n.*2658T>C) c.1973A>G c.4752T>C (n.4752T>C) c.3895A>G (p.Ser1299Gly) c.1322A>G c.1152A>G n.211A>G c.3958A>G (p.Ser1320Gly) c.3904A>G (p.Ser1302Gly) c.3550A>G (p.Ser1184Gly) c.2239A>G (p.Ser747Gly) | |
| 1 | g.11788022A>T | CA338469995 | C1orf167,MTHFR | c.3337A>T (p.Ser1113Cys) c.3823A>T (p.Ser1275Cys) c.*2658T>A (n.*2658T>A) c.1973A>T c.4752T>A (n.4752T>A) c.3895A>T (p.Ser1299Cys) c.1322A>T c.1152A>T n.211A>T c.3958A>T (p.Ser1320Cys) c.3904A>T (p.Ser1302Cys) c.3550A>T (p.Ser1184Cys) c.2239A>T (p.Ser747Cys) | |
| 1 | g.11788023G>A | CA595063 | C1orf167,MTHFR | c.3338G>A (p.Ser1113Asn) c.3824G>A (p.Ser1275Asn) c.*2657C>T (n.*2657C>T) c.1974G>A c.4751C>T (n.4751C>T) c.3896G>A (p.Ser1299Asn) c.1323G>A c.1153G>A n.212G>A c.3959G>A (p.Ser1320Asn) c.3905G>A (p.Ser1302Asn) c.3551G>A (p.Ser1184Asn) c.2240G>A (p.Ser747Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.11788023G>C | CA17996096 | C1orf167,MTHFR | c.3338G>C (p.Ser1113Thr) c.3824G>C (p.Ser1275Thr) c.*2657C>G (n.*2657C>G) c.1974G>C c.4751C>G (n.4751C>G) c.3896G>C (p.Ser1299Thr) c.1323G>C c.1153G>C n.212G>C c.3959G>C (p.Ser1320Thr) c.3905G>C (p.Ser1302Thr) c.3551G>C (p.Ser1184Thr) c.2240G>C (p.Ser747Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11788023G= | CA1143778794 | C1orf167,MTHFR | c.3338G= (p.Ser1113=) c.3824G= (p.Ser1275=) c.*2657C= (n.*2657C=) c.1974G= c.4751C= (n.4751C=) c.3896G= (p.Ser1299=) c.1323G= c.1153G= n.212G= c.3959G= (p.Ser1320=) c.3905G= (p.Ser1302=) c.3551G= (p.Ser1184=) c.2240G= (p.Ser747=) | |
| 1 | g.11788023G>T | CA338469997 | C1orf167,MTHFR | c.3338G>T (p.Ser1113Ile) c.3824G>T (p.Ser1275Ile) c.*2657C>A (n.*2657C>A) c.1974G>T c.4751C>A (n.4751C>A) c.3896G>T (p.Ser1299Ile) c.1323G>T c.1153G>T n.212G>T c.3959G>T (p.Ser1320Ile) c.3905G>T (p.Ser1302Ile) c.3551G>T (p.Ser1184Ile) c.2240G>T (p.Ser747Ile) | |
| 1 | g.11788024C>A | CA338469998 | C1orf167,MTHFR | c.3339C>A (p.Ser1113Arg) c.3825C>A (p.Ser1275Arg) c.*2656G>T (n.*2656G>T) c.1975C>A c.4750G>T (n.4750G>T) c.3897C>A (p.Ser1299Arg) c.1324C>A c.1154C>A n.213C>A c.3960C>A (p.Ser1320Arg) c.3906C>A (p.Ser1302Arg) c.3552C>A (p.Ser1184Arg) c.2241C>A (p.Ser747Arg) | gnomAD v4 |
| 1 | g.11788024C= | CA1153786653 | C1orf167,MTHFR | c.3339C= (p.Ser1113=) c.3825C= (p.Ser1275=) c.*2656G= (n.*2656G=) c.1975C= c.4750G= (n.4750G=) c.3897C= (p.Ser1299=) c.1324C= c.1154C= n.213C= c.3960C= (p.Ser1320=) c.3906C= (p.Ser1302=) c.3552C= (p.Ser1184=) c.2241C= (p.Ser747=) |