Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.11788185_11788190dup | CA521454912 | C1orf167,MTHFR | c.3384_3389dup (p.Ala1129_His1130insGlnAla) c.3885_3890dup (p.Ala1296_His1297insGlnAla) c.*2498_*2503dup (n.*2498_*2503dup) c.2020_2025dup c.4592_4597dup (n.4592_4597dup) c.3942_3947dup (p.Ala1315_His1316insGlnAla) c.1384_1389dup c.1178-58_1178-53dup n.237-58_237-53dup c.4020_4025dup (p.Ala1341_His1342insGlnAla) c.3966_3971dup (p.Ala1323_His1324insGlnAla) c.3984-58_3984-53dup (n.3984-58_3984-53dup) c.3612_3617dup (p.Ala1205_His1206insGlnAla) c.2301_2306dup (p.Ala768_His769insGlnAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788180G>A | CA17996189 | C1orf167,MTHFR | c.3379G>A (p.Ala1127Thr) c.3880G>A (p.Ala1294Thr) c.*2500C>T (n.*2500C>T) c.2015G>A c.4594C>T (n.4594C>T) c.3937G>A (p.Ala1313Thr) c.1379G>A c.1178-63G>A n.237-63G>A c.4015G>A (p.Ala1339Thr) c.3961G>A (p.Ala1321Thr) c.3984-63G>A (n.3984-63G>A) c.3607G>A (p.Ala1203Thr) c.2296G>A (p.Ala766Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788180G>C | CA338470100 | C1orf167,MTHFR | c.3379G>C (p.Ala1127Pro) c.3880G>C (p.Ala1294Pro) c.*2500C>G (n.*2500C>G) c.2015G>C c.4594C>G (n.4594C>G) c.3937G>C (p.Ala1313Pro) c.1379G>C c.1178-63G>C n.237-63G>C c.4015G>C (p.Ala1339Pro) c.3961G>C (p.Ala1321Pro) c.3984-63G>C (n.3984-63G>C) c.3607G>C (p.Ala1203Pro) c.2296G>C (p.Ala766Pro) | |
1 | g.11788180G= | CA1153786919 | C1orf167,MTHFR | c.3379G= (p.Ala1127=) c.3880G= (p.Ala1294=) c.*2500C= (n.*2500C=) c.2015G= c.4594C= (n.4594C=) c.3937G= (p.Ala1313=) c.1379G= c.1178-63G= n.237-63G= c.4015G= (p.Ala1339=) c.3961G= (p.Ala1321=) c.3984-63G= (n.3984-63G=) c.3607G= (p.Ala1203=) c.2296G= (p.Ala766=) | |
1 | g.11788180G>T | CA338470099 | C1orf167,MTHFR | c.3379G>T (p.Ala1127Ser) c.3880G>T (p.Ala1294Ser) c.*2500C>A (n.*2500C>A) c.2015G>T c.4594C>A (n.4594C>A) c.3937G>T (p.Ala1313Ser) c.1379G>T c.1178-63G>T n.237-63G>T c.4015G>T (p.Ala1339Ser) c.3961G>T (p.Ala1321Ser) c.3984-63G>T (n.3984-63G>T) c.3607G>T (p.Ala1203Ser) c.2296G>T (p.Ala766Ser) | |
1 | g.11788181C>A | CA338470101 | C1orf167,MTHFR | c.3380C>A (p.Ala1127Asp) c.3881C>A (p.Ala1294Asp) c.*2499G>T (n.*2499G>T) c.2016C>A c.4593G>T (n.4593G>T) c.3938C>A (p.Ala1313Asp) c.1380C>A c.1178-62C>A n.237-62C>A c.4016C>A (p.Ala1339Asp) c.3962C>A (p.Ala1321Asp) c.3984-62C>A (n.3984-62C>A) c.3608C>A (p.Ala1203Asp) c.2297C>A (p.Ala766Asp) | |
1 | g.11788181C>G | CA338470102 | C1orf167,MTHFR | c.3380C>G (p.Ala1127Gly) c.3881C>G (p.Ala1294Gly) c.*2499G>C (n.*2499G>C) c.2016C>G c.4593G>C (n.4593G>C) c.3938C>G (p.Ala1313Gly) c.1380C>G c.1178-62C>G n.237-62C>G c.4016C>G (p.Ala1339Gly) c.3962C>G (p.Ala1321Gly) c.3984-62C>G (n.3984-62C>G) c.3608C>G (p.Ala1203Gly) c.2297C>G (p.Ala766Gly) | |
1 | g.11788181C>T | CA338470103 | C1orf167,MTHFR | c.3380C>T (p.Ala1127Val) c.3881C>T (p.Ala1294Val) c.*2499G>A (n.*2499G>A) c.2016C>T c.4593G>A (n.4593G>A) c.3938C>T (p.Ala1313Val) c.1380C>T c.1178-62C>T n.237-62C>T c.4016C>T (p.Ala1339Val) c.3962C>T (p.Ala1321Val) c.3984-62C>T (n.3984-62C>T) c.3608C>T (p.Ala1203Val) c.2297C>T (p.Ala766Val) | |
1 | g.11788182C>A | CA416361715 | C1orf167,MTHFR | c.3381C>A (p.Ala1127=) c.3882C>A (p.Ala1294=) c.*2498G>T (n.*2498G>T) c.2017C>A c.4592G>T (n.4592G>T) c.3939C>A (p.Ala1313=) c.1381C>A c.1178-61C>A n.237-61C>A c.4017C>A (p.Ala1339=) c.3963C>A (p.Ala1321=) c.3984-61C>A (n.3984-61C>A) c.3609C>A (p.Ala1203=) c.2298C>A (p.Ala766=) | gnomAD v4 |
1 | g.11788182C= | CA1153786924 | C1orf167,MTHFR | c.3381C= (p.Ala1127=) c.3882C= (p.Ala1294=) c.*2498G= (n.*2498G=) c.2017C= c.4592G= (n.4592G=) c.3939C= (p.Ala1313=) c.1381C= c.1178-61C= n.237-61C= c.4017C= (p.Ala1339=) c.3963C= (p.Ala1321=) c.3984-61C= (n.3984-61C=) c.3609C= (p.Ala1203=) c.2298C= (p.Ala766=) | |
1 | g.11788182C>G | CA416361717 | C1orf167,MTHFR | c.3381C>G (p.Ala1127=) c.3882C>G (p.Ala1294=) c.*2498G>C (n.*2498G>C) c.2017C>G c.4592G>C (n.4592G>C) c.3939C>G (p.Ala1313=) c.1381C>G c.1178-61C>G n.237-61C>G c.4017C>G (p.Ala1339=) c.3963C>G (p.Ala1321=) c.3984-61C>G (n.3984-61C>G) c.3609C>G (p.Ala1203=) c.2298C>G (p.Ala766=) | |
1 | g.11788182C>T | CA416361716 | C1orf167,MTHFR | c.3381C>T (p.Ala1127=) c.3882C>T (p.Ala1294=) c.*2498G>A (n.*2498G>A) c.2017C>T c.4592G>A (n.4592G>A) c.3939C>T (p.Ala1313=) c.1381C>T c.1178-61C>T n.237-61C>T c.4017C>T (p.Ala1339=) c.3963C>T (p.Ala1321=) c.3984-61C>T (n.3984-61C>T) c.3609C>T (p.Ala1203=) c.2298C>T (p.Ala766=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11788183C>A | CA338470104 | C1orf167,MTHFR | c.3382C>A (p.Gln1128Lys) c.3883C>A (p.Gln1295Lys) c.*2497G>T (n.*2497G>T) c.2018C>A c.4591G>T (n.4591G>T) c.3940C>A (p.Gln1314Lys) c.1382C>A c.1178-60C>A n.237-60C>A c.4018C>A (p.Gln1340Lys) c.3964C>A (p.Gln1322Lys) c.3984-60C>A (n.3984-60C>A) c.3610C>A (p.Gln1204Lys) c.2299C>A (p.Gln767Lys) | gnomAD v4 |
1 | g.11788183C= | CA1147237561 | C1orf167,MTHFR | c.3382C= (p.Gln1128=) c.3883C= (p.Gln1295=) c.*2497G= (n.*2497G=) c.2018C= c.4591G= (n.4591G=) c.3940C= (p.Gln1314=) c.1382C= c.1178-60C= n.237-60C= c.4018C= (p.Gln1340=) c.3964C= (p.Gln1322=) c.3984-60C= (n.3984-60C=) c.3610C= (p.Gln1204=) c.2299C= (p.Gln767=) | |
1 | g.11788183C>G | CA338470105 | C1orf167,MTHFR | c.3382C>G (p.Gln1128Glu) c.3883C>G (p.Gln1295Glu) c.*2497G>C (n.*2497G>C) c.2018C>G c.4591G>C (n.4591G>C) c.3940C>G (p.Gln1314Glu) c.1382C>G c.1178-60C>G n.237-60C>G c.4018C>G (p.Gln1340Glu) c.3964C>G (p.Gln1322Glu) c.3984-60C>G (n.3984-60C>G) c.3610C>G (p.Gln1204Glu) c.2299C>G (p.Gln767Glu) | |
1 | g.11788183C>T | CA595076 | C1orf167,MTHFR | c.3382C>T (p.Gln1128Ter) c.3883C>T (p.Gln1295Ter) c.*2497G>A (n.*2497G>A) c.2018C>T c.4591G>A (n.4591G>A) c.3940C>T (p.Gln1314Ter) c.1382C>T c.1178-60C>T n.237-60C>T c.4018C>T (p.Gln1340Ter) c.3964C>T (p.Gln1322Ter) c.3984-60C>T (n.3984-60C>T) c.3610C>T (p.Gln1204Ter) c.2299C>T (p.Gln767Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788184A>C | CA338470106 | C1orf167,MTHFR | c.3383A>C (p.Gln1128Pro) c.3884A>C (p.Gln1295Pro) c.*2496T>G (n.*2496T>G) c.2019A>C c.4590T>G (n.4590T>G) c.3941A>C (p.Gln1314Pro) c.1383A>C c.1178-59A>C n.237-59A>C c.4019A>C (p.Gln1340Pro) c.3965A>C (p.Gln1322Pro) c.3984-59A>C (n.3984-59A>C) c.3611A>C (p.Gln1204Pro) c.2300A>C (p.Gln767Pro) | gnomAD v4 |
1 | g.11788184A>G | CA338470107 | C1orf167,MTHFR | c.3383A>G (p.Gln1128Arg) c.3884A>G (p.Gln1295Arg) c.*2496T>C (n.*2496T>C) c.2019A>G c.4590T>C (n.4590T>C) c.3941A>G (p.Gln1314Arg) c.1383A>G c.1178-59A>G n.237-59A>G c.4019A>G (p.Gln1340Arg) c.3965A>G (p.Gln1322Arg) c.3984-59A>G (n.3984-59A>G) c.3611A>G (p.Gln1204Arg) c.2300A>G (p.Gln767Arg) | gnomAD v4 |
1 | g.11788184A>T | CA338470108 | C1orf167,MTHFR | c.3383A>T (p.Gln1128Leu) c.3884A>T (p.Gln1295Leu) c.*2496T>A (n.*2496T>A) c.2019A>T c.4590T>A (n.4590T>A) c.3941A>T (p.Gln1314Leu) c.1383A>T c.1178-59A>T n.237-59A>T c.4019A>T (p.Gln1340Leu) c.3965A>T (p.Gln1322Leu) c.3984-59A>T (n.3984-59A>T) c.3611A>T (p.Gln1204Leu) c.2300A>T (p.Gln767Leu) | gnomAD v4 |
1 | g.11788185G>A | CA416361718 | C1orf167,MTHFR | c.3384G>A (p.Gln1128=) c.3885G>A (p.Gln1295=) c.*2495C>T (n.*2495C>T) c.2020G>A c.4589C>T (n.4589C>T) c.3942G>A (p.Gln1314=) c.1384G>A c.1178-58G>A n.237-58G>A c.4020G>A (p.Gln1340=) c.3966G>A (p.Gln1322=) c.3984-58G>A (n.3984-58G>A) c.3612G>A (p.Gln1204=) c.2301G>A (p.Gln767=) | |
1 | g.11788185G>C | CA338470109 | C1orf167,MTHFR | c.3384G>C (p.Gln1128His) c.3885G>C (p.Gln1295His) c.*2495C>G (n.*2495C>G) c.2020G>C c.4589C>G (n.4589C>G) c.3942G>C (p.Gln1314His) c.1384G>C c.1178-58G>C n.237-58G>C c.4020G>C (p.Gln1340His) c.3966G>C (p.Gln1322His) c.3984-58G>C (n.3984-58G>C) c.3612G>C (p.Gln1204His) c.2301G>C (p.Gln767His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788185G= | CA1153786937 | C1orf167,MTHFR | c.3384G= (p.Gln1128=) c.3885G= (p.Gln1295=) c.*2495C= (n.*2495C=) c.2020G= c.4589C= (n.4589C=) c.3942G= (p.Gln1314=) c.1384G= c.1178-58G= n.237-58G= c.4020G= (p.Gln1340=) c.3966G= (p.Gln1322=) c.3984-58G= (n.3984-58G=) c.3612G= (p.Gln1204=) c.2301G= (p.Gln767=) | |
1 | g.11788185G>T | CA338470110 | C1orf167,MTHFR | c.3384G>T (p.Gln1128His) c.3885G>T (p.Gln1295His) c.*2495C>A (n.*2495C>A) c.2020G>T c.4589C>A (n.4589C>A) c.3942G>T (p.Gln1314His) c.1384G>T c.1178-58G>T n.237-58G>T c.4020G>T (p.Gln1340His) c.3966G>T (p.Gln1322His) c.3984-58G>T (n.3984-58G>T) c.3612G>T (p.Gln1204His) c.2301G>T (p.Gln767His) | gnomAD v4 |
1 | g.11788186G>A | CA338470111 | C1orf167,MTHFR | c.3385G>A (p.Ala1129Thr) c.3886G>A (p.Ala1296Thr) c.*2494C>T (n.*2494C>T) c.2021G>A c.4588C>T (n.4588C>T) c.3943G>A (p.Ala1315Thr) c.1385G>A c.1178-57G>A n.237-57G>A c.4021G>A (p.Ala1341Thr) c.3967G>A (p.Ala1323Thr) c.3984-57G>A (n.3984-57G>A) c.3613G>A (p.Ala1205Thr) c.2302G>A (p.Ala768Thr) | |
1 | g.11788186G>C | CA338470112 | C1orf167,MTHFR | c.3385G>C (p.Ala1129Pro) c.3886G>C (p.Ala1296Pro) c.*2494C>G (n.*2494C>G) c.2021G>C c.4588C>G (n.4588C>G) c.3943G>C (p.Ala1315Pro) c.1385G>C c.1178-57G>C n.237-57G>C c.4021G>C (p.Ala1341Pro) c.3967G>C (p.Ala1323Pro) c.3984-57G>C (n.3984-57G>C) c.3613G>C (p.Ala1205Pro) c.2302G>C (p.Ala768Pro) | |
1 | g.11788186G= | CA1153786941 | C1orf167,MTHFR | c.3385G= (p.Ala1129=) c.3886G= (p.Ala1296=) c.*2494C= (n.*2494C=) c.2021G= c.4588C= (n.4588C=) c.3943G= (p.Ala1315=) c.1385G= c.1178-57G= n.237-57G= c.4021G= (p.Ala1341=) c.3967G= (p.Ala1323=) c.3984-57G= (n.3984-57G=) c.3613G= (p.Ala1205=) c.2302G= (p.Ala768=) | |
1 | g.11788186G>T | CA338470113 | C1orf167,MTHFR | c.3385G>T (p.Ala1129Ser) c.3886G>T (p.Ala1296Ser) c.*2494C>A (n.*2494C>A) c.2021G>T c.4588C>A (n.4588C>A) c.3943G>T (p.Ala1315Ser) c.1385G>T c.1178-57G>T n.237-57G>T c.4021G>T (p.Ala1341Ser) c.3967G>T (p.Ala1323Ser) c.3984-57G>T (n.3984-57G>T) c.3613G>T (p.Ala1205Ser) c.2302G>T (p.Ala768Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788187C>A | CA338470116 | C1orf167,MTHFR | c.3386C>A (p.Ala1129Asp) c.3887C>A (p.Ala1296Asp) c.*2493G>T (n.*2493G>T) c.2022C>A c.4587G>T (n.4587G>T) c.3944C>A (p.Ala1315Asp) c.1386C>A c.1178-56C>A n.237-56C>A c.4022C>A (p.Ala1341Asp) c.3968C>A (p.Ala1323Asp) c.3984-56C>A (n.3984-56C>A) c.3614C>A (p.Ala1205Asp) c.2303C>A (p.Ala768Asp) | gnomAD v4 |
1 | g.11788187C= | CA1153786948 | C1orf167,MTHFR | c.3386C= (p.Ala1129=) c.3887C= (p.Ala1296=) c.*2493G= (n.*2493G=) c.2022C= c.4587G= (n.4587G=) c.3944C= (p.Ala1315=) c.1386C= c.1178-56C= n.237-56C= c.4022C= (p.Ala1341=) c.3968C= (p.Ala1323=) c.3984-56C= (n.3984-56C=) c.3614C= (p.Ala1205=) c.2303C= (p.Ala768=) | |
1 | g.11788187C>G | CA338470115 | C1orf167,MTHFR | c.3386C>G (p.Ala1129Gly) c.3887C>G (p.Ala1296Gly) c.*2493G>C (n.*2493G>C) c.2022C>G c.4587G>C (n.4587G>C) c.3944C>G (p.Ala1315Gly) c.1386C>G c.1178-56C>G n.237-56C>G c.4022C>G (p.Ala1341Gly) c.3968C>G (p.Ala1323Gly) c.3984-56C>G (n.3984-56C>G) c.3614C>G (p.Ala1205Gly) c.2303C>G (p.Ala768Gly) | |
1 | g.11788187C>T | CA338470114 | C1orf167,MTHFR | c.3386C>T (p.Ala1129Val) c.3887C>T (p.Ala1296Val) c.*2493G>A (n.*2493G>A) c.2022C>T c.4587G>A (n.4587G>A) c.3944C>T (p.Ala1315Val) c.1386C>T c.1178-56C>T n.237-56C>T c.4022C>T (p.Ala1341Val) c.3968C>T (p.Ala1323Val) c.3984-56C>T (n.3984-56C>T) c.3614C>T (p.Ala1205Val) c.2303C>T (p.Ala768Val) | dbSNP |
1 | g.11788188C>A | CA416361719 | C1orf167,MTHFR | c.3387C>A (p.Ala1129=) c.3888C>A (p.Ala1296=) c.*2492G>T (n.*2492G>T) c.2023C>A c.4586G>T (n.4586G>T) c.3945C>A (p.Ala1315=) c.1387C>A c.1178-55C>A n.237-55C>A c.4023C>A (p.Ala1341=) c.3969C>A (p.Ala1323=) c.3984-55C>A (n.3984-55C>A) c.3615C>A (p.Ala1205=) c.2304C>A (p.Ala768=) | |
1 | g.11788188C>G | CA416361720 | C1orf167,MTHFR | c.3387C>G (p.Ala1129=) c.3888C>G (p.Ala1296=) c.*2492G>C (n.*2492G>C) c.2023C>G c.4586G>C (n.4586G>C) c.3945C>G (p.Ala1315=) c.1387C>G c.1178-55C>G n.237-55C>G c.4023C>G (p.Ala1341=) c.3969C>G (p.Ala1323=) c.3984-55C>G (n.3984-55C>G) c.3615C>G (p.Ala1205=) c.2304C>G (p.Ala768=) | |
1 | g.11788188C>T | CA416361721 | C1orf167,MTHFR | c.3387C>T (p.Ala1129=) c.3888C>T (p.Ala1296=) c.*2492G>A (n.*2492G>A) c.2023C>T c.4586G>A (n.4586G>A) c.3945C>T (p.Ala1315=) c.1387C>T c.1178-55C>T n.237-55C>T c.4023C>T (p.Ala1341=) c.3969C>T (p.Ala1323=) c.3984-55C>T (n.3984-55C>T) c.3615C>T (p.Ala1205=) c.2304C>T (p.Ala768=) | gnomAD v4 |
1 | g.11788189C>A | CA338470117 | C1orf167,MTHFR | c.3388C>A (p.His1130Asn) c.3889C>A (p.His1297Asn) c.*2491G>T (n.*2491G>T) c.2024C>A c.4585G>T (n.4585G>T) c.3946C>A (p.His1316Asn) c.1388C>A c.1178-54C>A n.237-54C>A c.4024C>A (p.His1342Asn) c.3970C>A (p.His1324Asn) c.3984-54C>A (n.3984-54C>A) c.3616C>A (p.His1206Asn) c.2305C>A (p.His769Asn) | |
1 | g.11788189C>G | CA338470118 | C1orf167,MTHFR | c.3388C>G (p.His1130Asp) c.3889C>G (p.His1297Asp) c.*2491G>C (n.*2491G>C) c.2024C>G c.4585G>C (n.4585G>C) c.3946C>G (p.His1316Asp) c.1388C>G c.1178-54C>G n.237-54C>G c.4024C>G (p.His1342Asp) c.3970C>G (p.His1324Asp) c.3984-54C>G (n.3984-54C>G) c.3616C>G (p.His1206Asp) c.2305C>G (p.His769Asp) | |
1 | g.11788189C>T | CA338470119 | C1orf167,MTHFR | c.3388C>T (p.His1130Tyr) c.3889C>T (p.His1297Tyr) c.*2491G>A (n.*2491G>A) c.2024C>T c.4585G>A (n.4585G>A) c.3946C>T (p.His1316Tyr) c.1388C>T c.1178-54C>T n.237-54C>T c.4024C>T (p.His1342Tyr) c.3970C>T (p.His1324Tyr) c.3984-54C>T (n.3984-54C>T) c.3616C>T (p.His1206Tyr) c.2305C>T (p.His769Tyr) | |
1 | g.11788190A= | CA1149035707 | C1orf167,MTHFR | c.3389A= (p.His1130=) c.3890A= (p.His1297=) c.*2490T= (n.*2490T=) c.2025A= c.4584T= (n.4584T=) c.3947A= (p.His1316=) c.1389A= c.1178-53A= n.237-53A= c.4025A= (p.His1342=) c.3971A= (p.His1324=) c.3984-53A= (n.3984-53A=) c.3617A= (p.His1206=) c.2306A= (p.His769=) | |
1 | g.11788190A>C | CA338470120 | C1orf167,MTHFR | c.3389A>C (p.His1130Pro) c.3890A>C (p.His1297Pro) c.*2490T>G (n.*2490T>G) c.2025A>C c.4584T>G (n.4584T>G) c.3947A>C (p.His1316Pro) c.1389A>C c.1178-53A>C n.237-53A>C c.4025A>C (p.His1342Pro) c.3971A>C (p.His1324Pro) c.3984-53A>C (n.3984-53A>C) c.3617A>C (p.His1206Pro) c.2306A>C (p.His769Pro) | |
1 | g.11788190A>G | CA338470121 | C1orf167,MTHFR | c.3389A>G (p.His1130Arg) c.3890A>G (p.His1297Arg) c.*2490T>C (n.*2490T>C) c.2025A>G c.4584T>C (n.4584T>C) c.3947A>G (p.His1316Arg) c.1389A>G c.1178-53A>G n.237-53A>G c.4025A>G (p.His1342Arg) c.3971A>G (p.His1324Arg) c.3984-53A>G (n.3984-53A>G) c.3617A>G (p.His1206Arg) c.2306A>G (p.His769Arg) | gnomAD v4 |
1 | g.11788190A>T | CA595077 | C1orf167,MTHFR | c.3389A>T (p.His1130Leu) c.3890A>T (p.His1297Leu) c.*2490T>A (n.*2490T>A) c.2025A>T c.4584T>A (n.4584T>A) c.3947A>T (p.His1316Leu) c.1389A>T c.1178-53A>T n.237-53A>T c.4025A>T (p.His1342Leu) c.3971A>T (p.His1324Leu) c.3984-53A>T (n.3984-53A>T) c.3617A>T (p.His1206Leu) c.2306A>T (p.His769Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11788191del | CA2643295633 | C1orf167,MTHFR | c.3390del (p.His1130GlnfsTer9) c.3891del (p.His1297GlnfsTer9) c.*2489del (n.*2489del) c.2026del c.4583del (n.4583del) c.3948del (p.His1316GlnfsTer9) c.1390del c.1178-52del n.237-52del c.4026del (p.His1342GlnfsTer9) c.3972del (p.His1324GlnfsTer9) c.3984-52del (n.3984-52del) c.3618del (p.His1206GlnfsTer9) c.2307del (p.His769GlnfsTer9) | gnomAD v4 |
1 | g.11788191T>A | CA338470122 | C1orf167,MTHFR | c.3390T>A (p.His1130Gln) c.3891T>A (p.His1297Gln) c.*2489A>T (n.*2489A>T) c.2026T>A c.4583A>T (n.4583A>T) c.3948T>A (p.His1316Gln) c.1390T>A c.1178-52T>A n.237-52T>A c.4026T>A (p.His1342Gln) c.3972T>A (p.His1324Gln) c.3984-52T>A (n.3984-52T>A) c.3618T>A (p.His1206Gln) c.2307T>A (p.His769Gln) | |
1 | g.11788191T>C | CA416361722 | C1orf167,MTHFR | c.3390T>C (p.His1130=) c.3891T>C (p.His1297=) c.*2489A>G (n.*2489A>G) c.2026T>C c.4583A>G (n.4583A>G) c.3948T>C (p.His1316=) c.1390T>C c.1178-52T>C n.237-52T>C c.4026T>C (p.His1342=) c.3972T>C (p.His1324=) c.3984-52T>C (n.3984-52T>C) c.3618T>C (p.His1206=) c.2307T>C (p.His769=) | dbSNP gnomAD v4 |
1 | g.11788191T>G | CA338470123 | C1orf167,MTHFR | c.3390T>G (p.His1130Gln) c.3891T>G (p.His1297Gln) c.*2489A>C (n.*2489A>C) c.2026T>G c.4583A>C (n.4583A>C) c.3948T>G (p.His1316Gln) c.1390T>G c.1178-52T>G n.237-52T>G c.4026T>G (p.His1342Gln) c.3972T>G (p.His1324Gln) c.3984-52T>G (n.3984-52T>G) c.3618T>G (p.His1206Gln) c.2307T>G (p.His769Gln) | |
1 | g.11788191T= | CA1153786959 | C1orf167,MTHFR | c.3390T= (p.His1130=) c.3891T= (p.His1297=) c.*2489A= (n.*2489A=) c.2026T= c.4583A= (n.4583A=) c.3948T= (p.His1316=) c.1390T= c.1178-52T= n.237-52T= c.4026T= (p.His1342=) c.3972T= (p.His1324=) c.3984-52T= (n.3984-52T=) c.3618T= (p.His1206=) c.2307T= (p.His769=) | |
1 | g.11788192G>A | CA338470124 | C1orf167,MTHFR | c.3391G>A (p.Gly1131Ser) c.3892G>A (p.Gly1298Ser) c.*2488C>T (n.*2488C>T) c.2027G>A c.4582C>T (n.4582C>T) c.3949G>A (p.Gly1317Ser) c.1391G>A c.1178-51G>A n.237-51G>A c.4027G>A (p.Gly1343Ser) c.3973G>A (p.Gly1325Ser) c.3984-51G>A (n.3984-51G>A) c.3619G>A (p.Gly1207Ser) c.2308G>A (p.Gly770Ser) | dbSNP |
1 | g.11788192G>C | CA338470125 | C1orf167,MTHFR | c.3391G>C (p.Gly1131Arg) c.3892G>C (p.Gly1298Arg) c.*2488C>G (n.*2488C>G) c.2027G>C c.4582C>G (n.4582C>G) c.3949G>C (p.Gly1317Arg) c.1391G>C c.1178-51G>C n.237-51G>C c.4027G>C (p.Gly1343Arg) c.3973G>C (p.Gly1325Arg) c.3984-51G>C (n.3984-51G>C) c.3619G>C (p.Gly1207Arg) c.2308G>C (p.Gly770Arg) | |
1 | g.11788192G= | CA1153786961 | C1orf167,MTHFR | c.3391G= (p.Gly1131=) c.3892G= (p.Gly1298=) c.*2488C= (n.*2488C=) c.2027G= c.4582C= (n.4582C=) c.3949G= (p.Gly1317=) c.1391G= c.1178-51G= n.237-51G= c.4027G= (p.Gly1343=) c.3973G= (p.Gly1325=) c.3984-51G= (n.3984-51G=) c.3619G= (p.Gly1207=) c.2308G= (p.Gly770=) | |
1 | g.11788192G>T | CA338470126 | C1orf167,MTHFR | c.3391G>T (p.Gly1131Cys) c.3892G>T (p.Gly1298Cys) c.*2488C>A (n.*2488C>A) c.2027G>T c.4582C>A (n.4582C>A) c.3949G>T (p.Gly1317Cys) c.1391G>T c.1178-51G>T n.237-51G>T c.4027G>T (p.Gly1343Cys) c.3973G>T (p.Gly1325Cys) c.3984-51G>T (n.3984-51G>T) c.3619G>T (p.Gly1207Cys) c.2308G>T (p.Gly770Cys) | |
1 | g.11788193G>A | CA338470127 | C1orf167,MTHFR | c.3392G>A (p.Gly1131Asp) c.3893G>A (p.Gly1298Asp) c.*2487C>T (n.*2487C>T) c.2028G>A c.4581C>T (n.4581C>T) c.3950G>A (p.Gly1317Asp) c.1392G>A c.1178-50G>A n.237-50G>A c.4028G>A (p.Gly1343Asp) c.3974G>A (p.Gly1325Asp) c.3984-50G>A (n.3984-50G>A) c.3620G>A (p.Gly1207Asp) c.2309G>A (p.Gly770Asp) | gnomAD v4 |
1 | g.11788193G>C | CA338470128 | C1orf167,MTHFR | c.3392G>C (p.Gly1131Ala) c.3893G>C (p.Gly1298Ala) c.*2487C>G (n.*2487C>G) c.2028G>C c.4581C>G (n.4581C>G) c.3950G>C (p.Gly1317Ala) c.1392G>C c.1178-50G>C n.237-50G>C c.4028G>C (p.Gly1343Ala) c.3974G>C (p.Gly1325Ala) c.3984-50G>C (n.3984-50G>C) c.3620G>C (p.Gly1207Ala) c.2309G>C (p.Gly770Ala) | |
1 | g.11788193G>T | CA338470129 | C1orf167,MTHFR | c.3392G>T (p.Gly1131Val) c.3893G>T (p.Gly1298Val) c.*2487C>A (n.*2487C>A) c.2028G>T c.4581C>A (n.4581C>A) c.3950G>T (p.Gly1317Val) c.1392G>T c.1178-50G>T n.237-50G>T c.4028G>T (p.Gly1343Val) c.3974G>T (p.Gly1325Val) c.3984-50G>T (n.3984-50G>T) c.3620G>T (p.Gly1207Val) c.2309G>T (p.Gly770Val) | |
1 | g.11788194C>A | CA416361723 | C1orf167,MTHFR | c.3393C>A (p.Gly1131=) c.3894C>A (p.Gly1298=) c.*2486G>T (n.*2486G>T) c.2029C>A c.4580G>T (n.4580G>T) c.3951C>A (p.Gly1317=) c.1393C>A c.1178-49C>A n.237-49C>A c.4029C>A (p.Gly1343=) c.3975C>A (p.Gly1325=) c.3984-49C>A (n.3984-49C>A) c.3621C>A (p.Gly1207=) c.2310C>A (p.Gly770=) | gnomAD v4 |
1 | g.11788194C>G | CA416361724 | C1orf167,MTHFR | c.3393C>G (p.Gly1131=) c.3894C>G (p.Gly1298=) c.*2486G>C (n.*2486G>C) c.2029C>G c.4580G>C (n.4580G>C) c.3951C>G (p.Gly1317=) c.1393C>G c.1178-49C>G n.237-49C>G c.4029C>G (p.Gly1343=) c.3975C>G (p.Gly1325=) c.3984-49C>G (n.3984-49C>G) c.3621C>G (p.Gly1207=) c.2310C>G (p.Gly770=) | |
1 | g.11788194C>T | CA416361725 | C1orf167,MTHFR | c.3393C>T (p.Gly1131=) c.3894C>T (p.Gly1298=) c.*2486G>A (n.*2486G>A) c.2029C>T c.4580G>A (n.4580G>A) c.3951C>T (p.Gly1317=) c.1393C>T c.1178-49C>T n.237-49C>T c.4029C>T (p.Gly1343=) c.3975C>T (p.Gly1325=) c.3984-49C>T (n.3984-49C>T) c.3621C>T (p.Gly1207=) c.2310C>T (p.Gly770=) | gnomAD v4 |
1 | g.11788195T>A | CA338470131 | C1orf167,MTHFR | c.3394T>A (p.Ser1132Thr) c.3895T>A (p.Ser1299Thr) c.*2485A>T (n.*2485A>T) c.2030T>A c.4579A>T (n.4579A>T) c.3952T>A (p.Ser1318Thr) c.1394T>A c.1178-48T>A n.237-48T>A c.4030T>A (p.Ser1344Thr) c.3976T>A (p.Ser1326Thr) c.3984-48T>A (n.3984-48T>A) c.3622T>A (p.Ser1208Thr) c.2311T>A (p.Ser771Thr) | |
1 | g.11788195T>C | CA338470132 | C1orf167,MTHFR | c.3394T>C (p.Ser1132Pro) c.3895T>C (p.Ser1299Pro) c.*2485A>G (n.*2485A>G) c.2030T>C c.4579A>G (n.4579A>G) c.3952T>C (p.Ser1318Pro) c.1394T>C c.1178-48T>C n.237-48T>C c.4030T>C (p.Ser1344Pro) c.3976T>C (p.Ser1326Pro) c.3984-48T>C (n.3984-48T>C) c.3622T>C (p.Ser1208Pro) c.2311T>C (p.Ser771Pro) | |
1 | g.11788195T>G | CA338470130 | C1orf167,MTHFR | c.3394T>G (p.Ser1132Ala) c.3895T>G (p.Ser1299Ala) c.*2485A>C (n.*2485A>C) c.2030T>G c.4579A>C (n.4579A>C) c.3952T>G (p.Ser1318Ala) c.1394T>G c.1178-48T>G n.237-48T>G c.4030T>G (p.Ser1344Ala) c.3976T>G (p.Ser1326Ala) c.3984-48T>G (n.3984-48T>G) c.3622T>G (p.Ser1208Ala) c.2311T>G (p.Ser771Ala) | |
1 | g.11788196C>A | CA338470133 | C1orf167,MTHFR | c.3395C>A (p.Ser1132Tyr) c.3896C>A (p.Ser1299Tyr) c.*2484G>T (n.*2484G>T) c.2031C>A c.4578G>T (n.4578G>T) c.3953C>A (p.Ser1318Tyr) c.1395C>A c.1178-47C>A n.237-47C>A c.4031C>A (p.Ser1344Tyr) c.3977C>A (p.Ser1326Tyr) c.3984-47C>A (n.3984-47C>A) c.3623C>A (p.Ser1208Tyr) c.2312C>A (p.Ser771Tyr) | gnomAD v4 |
1 | g.11788196C>G | CA338470134 | C1orf167,MTHFR | c.3395C>G (p.Ser1132Cys) c.3896C>G (p.Ser1299Cys) c.*2484G>C (n.*2484G>C) c.2031C>G c.4578G>C (n.4578G>C) c.3953C>G (p.Ser1318Cys) c.1395C>G c.1178-47C>G n.237-47C>G c.4031C>G (p.Ser1344Cys) c.3977C>G (p.Ser1326Cys) c.3984-47C>G (n.3984-47C>G) c.3623C>G (p.Ser1208Cys) c.2312C>G (p.Ser771Cys) | gnomAD v4 |
1 | g.11788196C>T | CA338470135 | C1orf167,MTHFR | c.3395C>T (p.Ser1132Phe) c.3896C>T (p.Ser1299Phe) c.*2484G>A (n.*2484G>A) c.2031C>T c.4578G>A (n.4578G>A) c.3953C>T (p.Ser1318Phe) c.1395C>T c.1178-47C>T n.237-47C>T c.4031C>T (p.Ser1344Phe) c.3977C>T (p.Ser1326Phe) c.3984-47C>T (n.3984-47C>T) c.3623C>T (p.Ser1208Phe) c.2312C>T (p.Ser771Phe) | gnomAD v4 |
1 | g.11788196_11788197insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA | CA2572365536 | C1orf167,MTHFR | c.3395_3396insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1133PhefsTer6) c.3896_3897insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1300PhefsTer6) c.*2483_*2484insTTCAGAGTTGCTTGTCAGAGGCTGACTGAGAAC (n.*2483_*2484insTTCAGAGTTGCTTGTCAGAGGCTGACTGAGAAC) c.2031_2032insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA c.4577_4578insTTCAGAGTTGCTTGTCAGAGGCTGACTGAGAAC (n.4577_4578insTTCAGAGTTGCTTGTCAGAGGCTGACTGAGAAC) c.3953_3954insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1319PhefsTer6) c.1395_1396insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA c.1178-47_1178-46insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA n.237-47_237-46insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA c.4031_4032insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1345PhefsTer6) c.3977_3978insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1327PhefsTer6) c.3984-47_3984-46insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (n.3984-47_3984-46insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA) c.3623_3624insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1209PhefsTer6) c.2312_2313insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser772PhefsTer6) | |
1 | g.11788197T>A | CA416361726 | C1orf167,MTHFR | c.3396T>A (p.Ser1132=) c.3897T>A (p.Ser1299=) c.*2483A>T (n.*2483A>T) c.2032T>A c.4577A>T (n.4577A>T) c.3954T>A (p.Ser1318=) c.1396T>A c.1178-46T>A n.237-46T>A c.4032T>A (p.Ser1344=) c.3978T>A (p.Ser1326=) c.3984-46T>A (n.3984-46T>A) c.3624T>A (p.Ser1208=) c.2313T>A (p.Ser771=) | |
1 | g.11788197T>C | CA416361727 | C1orf167,MTHFR | c.3396T>C (p.Ser1132=) c.3897T>C (p.Ser1299=) c.*2483A>G (n.*2483A>G) c.2032T>C c.4577A>G (n.4577A>G) c.3954T>C (p.Ser1318=) c.1396T>C c.1178-46T>C n.237-46T>C c.4032T>C (p.Ser1344=) c.3978T>C (p.Ser1326=) c.3984-46T>C (n.3984-46T>C) c.3624T>C (p.Ser1208=) c.2313T>C (p.Ser771=) | |
1 | g.11788197T>G | CA416361728 | C1orf167,MTHFR | c.3396T>G (p.Ser1132=) c.3897T>G (p.Ser1299=) c.*2483A>C (n.*2483A>C) c.2032T>G c.4577A>C (n.4577A>C) c.3954T>G (p.Ser1318=) c.1396T>G c.1178-46T>G n.237-46T>G c.4032T>G (p.Ser1344=) c.3978T>G (p.Ser1326=) c.3984-46T>G (n.3984-46T>G) c.3624T>G (p.Ser1208=) c.2313T>G (p.Ser771=) | |
1 | g.11788198G>A | CA17996213 | C1orf167,MTHFR | c.3397G>A (p.Ala1133Thr) c.3898G>A (p.Ala1300Thr) c.*2482C>T (n.*2482C>T) c.2033G>A c.4576C>T (n.4576C>T) c.3955G>A (p.Ala1319Thr) c.1397G>A c.1178-45G>A n.237-45G>A c.4033G>A (p.Ala1345Thr) c.3979G>A (p.Ala1327Thr) c.3984-45G>A (n.3984-45G>A) c.3625G>A (p.Ala1209Thr) c.2314G>A (p.Ala772Thr) | dbSNP gnomAD v4 |
1 | g.11788198G>C | CA338470136 | C1orf167,MTHFR | c.3397G>C (p.Ala1133Pro) c.3898G>C (p.Ala1300Pro) c.*2482C>G (n.*2482C>G) c.2033G>C c.4576C>G (n.4576C>G) c.3955G>C (p.Ala1319Pro) c.1397G>C c.1178-45G>C n.237-45G>C c.4033G>C (p.Ala1345Pro) c.3979G>C (p.Ala1327Pro) c.3984-45G>C (n.3984-45G>C) c.3625G>C (p.Ala1209Pro) c.2314G>C (p.Ala772Pro) | |
1 | g.11788198G= | CA1153786966 | C1orf167,MTHFR | c.3397G= (p.Ala1133=) c.3898G= (p.Ala1300=) c.*2482C= (n.*2482C=) c.2033G= c.4576C= (n.4576C=) c.3955G= (p.Ala1319=) c.1397G= c.1178-45G= n.237-45G= c.4033G= (p.Ala1345=) c.3979G= (p.Ala1327=) c.3984-45G= (n.3984-45G=) c.3625G= (p.Ala1209=) c.2314G= (p.Ala772=) | |
1 | g.11788198G>T | CA338470137 | C1orf167,MTHFR | c.3397G>T (p.Ala1133Ser) c.3898G>T (p.Ala1300Ser) c.*2482C>A (n.*2482C>A) c.2033G>T c.4576C>A (n.4576C>A) c.3955G>T (p.Ala1319Ser) c.1397G>T c.1178-45G>T n.237-45G>T c.4033G>T (p.Ala1345Ser) c.3979G>T (p.Ala1327Ser) c.3984-45G>T (n.3984-45G>T) c.3625G>T (p.Ala1209Ser) c.2314G>T (p.Ala772Ser) | gnomAD v4 |
1 | g.11788199C>A | CA338470138 | C1orf167,MTHFR | c.3398C>A (p.Ala1133Asp) c.3899C>A (p.Ala1300Asp) c.*2481G>T (n.*2481G>T) c.2034C>A c.4575G>T (n.4575G>T) c.3956C>A (p.Ala1319Asp) c.1398C>A c.1178-44C>A n.237-44C>A c.4034C>A (p.Ala1345Asp) c.3980C>A (p.Ala1327Asp) c.3984-44C>A (n.3984-44C>A) c.3626C>A (p.Ala1209Asp) c.2315C>A (p.Ala772Asp) | |
1 | g.11788199C= | CA1153786972 | C1orf167,MTHFR | c.3398C= (p.Ala1133=) c.3899C= (p.Ala1300=) c.*2481G= (n.*2481G=) c.2034C= c.4575G= (n.4575G=) c.3956C= (p.Ala1319=) c.1398C= c.1178-44C= n.237-44C= c.4034C= (p.Ala1345=) c.3980C= (p.Ala1327=) c.3984-44C= (n.3984-44C=) c.3626C= (p.Ala1209=) c.2315C= (p.Ala772=) | |
1 | g.11788199C>G | CA338470139 | C1orf167,MTHFR | c.3398C>G (p.Ala1133Gly) c.3899C>G (p.Ala1300Gly) c.*2481G>C (n.*2481G>C) c.2034C>G c.4575G>C (n.4575G>C) c.3956C>G (p.Ala1319Gly) c.1398C>G c.1178-44C>G n.237-44C>G c.4034C>G (p.Ala1345Gly) c.3980C>G (p.Ala1327Gly) c.3984-44C>G (n.3984-44C>G) c.3626C>G (p.Ala1209Gly) c.2315C>G (p.Ala772Gly) | |
1 | g.11788199C>T | CA338470140 | C1orf167,MTHFR | c.3398C>T (p.Ala1133Val) c.3899C>T (p.Ala1300Val) c.*2481G>A (n.*2481G>A) c.2034C>T c.4575G>A (n.4575G>A) c.3956C>T (p.Ala1319Val) c.1398C>T c.1178-44C>T n.237-44C>T c.4034C>T (p.Ala1345Val) c.3980C>T (p.Ala1327Val) c.3984-44C>T (n.3984-44C>T) c.3626C>T (p.Ala1209Val) c.2315C>T (p.Ala772Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788201del | CA2643295634 | C1orf167,MTHFR | c.3400del (p.Leu1134SerfsTer5) c.3901del (p.Leu1301SerfsTer5) c.*2481del (n.*2481del) c.2036del c.4575del (n.4575del) c.3958del (p.Leu1320SerfsTer5) c.1400del c.1178-42del n.237-42del c.4036del (p.Leu1346SerfsTer5) c.3982del (p.Leu1328SerfsTer5) c.3984-42del (n.3984-42del) c.3628del (p.Leu1210SerfsTer5) c.2317del (p.Leu773SerfsTer5) | gnomAD v4 |
1 | g.11788199_11788202delinsCCCT | CA1153786971 | C1orf167,MTHFR | c.3398_3401delinsCCCT (p.Ala1133=) c.3899_3902delinsCCCT (p.Ala1300=) c.*2478_*2481delinsAGGG (n.*2478_*2481delinsAGGG) c.2034_2037delinsCCCT c.4572_4575delinsAGGG (n.4572_4575delinsAGGG) c.3956_3959delinsCCCT (p.Ala1319=) c.1398_1401delinsCCCT c.1178-44_1178-41delinsCCCT n.237-44_237-41delinsCCCT c.4034_4037delinsCCCT (p.Ala1345=) c.3980_3983delinsCCCT (p.Ala1327=) c.3984-44_3984-41delinsCCCT (n.3984-44_3984-41delinsCCCT) c.3626_3629delinsCCCT (p.Ala1209=) c.2315_2318delinsCCCT (p.Ala772=) | |
1 | g.11788200C>A | CA416361729 | C1orf167,MTHFR | c.3399C>A (p.Ala1133=) c.3900C>A (p.Ala1300=) c.*2480G>T (n.*2480G>T) c.2035C>A c.4574G>T (n.4574G>T) c.3957C>A (p.Ala1319=) c.1399C>A c.1178-43C>A n.237-43C>A c.4035C>A (p.Ala1345=) c.3981C>A (p.Ala1327=) c.3984-43C>A (n.3984-43C>A) c.3627C>A (p.Ala1209=) c.2316C>A (p.Ala772=) | |
1 | g.11788200C>G | CA416361730 | C1orf167,MTHFR | c.3399C>G (p.Ala1133=) c.3900C>G (p.Ala1300=) c.*2480G>C (n.*2480G>C) c.2035C>G c.4574G>C (n.4574G>C) c.3957C>G (p.Ala1319=) c.1399C>G c.1178-43C>G n.237-43C>G c.4035C>G (p.Ala1345=) c.3981C>G (p.Ala1327=) c.3984-43C>G (n.3984-43C>G) c.3627C>G (p.Ala1209=) c.2316C>G (p.Ala772=) | |
1 | g.11788200C>T | CA416361731 | C1orf167,MTHFR | c.3399C>T (p.Ala1133=) c.3900C>T (p.Ala1300=) c.*2480G>A (n.*2480G>A) c.2035C>T c.4574G>A (n.4574G>A) c.3957C>T (p.Ala1319=) c.1399C>T c.1178-43C>T n.237-43C>T c.4035C>T (p.Ala1345=) c.3981C>T (p.Ala1327=) c.3984-43C>T (n.3984-43C>T) c.3627C>T (p.Ala1209=) c.2316C>T (p.Ala772=) | |
1 | g.11788203_11788205del | CA886036603 | C1orf167,MTHFR | c.3402_3404del (p.Leu1135del) c.3903_3905del (p.Leu1302del) c.*2478_*2480del (n.*2478_*2480del) c.2038_2040del c.4572_4574del (n.4572_4574del) c.3960_3962del (p.Leu1321del) c.1402_1404del c.1178-40_1178-38del n.237-40_237-38del c.4038_4040del (p.Leu1347del) c.3984_3986del (p.Leu1329del) c.3984-40_3984-38del (n.3984-40_3984-38del) c.3630_3632del (p.Leu1211del) c.2319_2321del (p.Leu774del) | dbSNP |
1 | g.11788201C>A | CA338470141 | C1orf167,MTHFR | c.3400C>A (p.Leu1134Ile) c.3901C>A (p.Leu1301Ile) c.*2479G>T (n.*2479G>T) c.2036C>A c.4573G>T (n.4573G>T) c.3958C>A (p.Leu1320Ile) c.1400C>A c.1178-42C>A n.237-42C>A c.4036C>A (p.Leu1346Ile) c.3982C>A (p.Leu1328Ile) c.3984-42C>A (n.3984-42C>A) c.3628C>A (p.Leu1210Ile) c.2317C>A (p.Leu773Ile) | gnomAD v4 |
1 | g.11788201C>G | CA338470142 | C1orf167,MTHFR | c.3400C>G (p.Leu1134Val) c.3901C>G (p.Leu1301Val) c.*2479G>C (n.*2479G>C) c.2036C>G c.4573G>C (n.4573G>C) c.3958C>G (p.Leu1320Val) c.1400C>G c.1178-42C>G n.237-42C>G c.4036C>G (p.Leu1346Val) c.3982C>G (p.Leu1328Val) c.3984-42C>G (n.3984-42C>G) c.3628C>G (p.Leu1210Val) c.2317C>G (p.Leu773Val) | |
1 | g.11788201C>T | CA338470143 | C1orf167,MTHFR | c.3400C>T (p.Leu1134Phe) c.3901C>T (p.Leu1301Phe) c.*2479G>A (n.*2479G>A) c.2036C>T c.4573G>A (n.4573G>A) c.3958C>T (p.Leu1320Phe) c.1400C>T c.1178-42C>T n.237-42C>T c.4036C>T (p.Leu1346Phe) c.3982C>T (p.Leu1328Phe) c.3984-42C>T (n.3984-42C>T) c.3628C>T (p.Leu1210Phe) c.2317C>T (p.Leu773Phe) | COSMIC COSMIC |
1 | g.11788202T>A | CA338470145 | C1orf167,MTHFR | c.3401T>A (p.Leu1134His) c.3902T>A (p.Leu1301His) c.*2478A>T (n.*2478A>T) c.2037T>A c.4572A>T (n.4572A>T) c.3959T>A (p.Leu1320His) c.1401T>A c.1178-41T>A n.237-41T>A c.4037T>A (p.Leu1346His) c.3983T>A (p.Leu1328His) c.3984-41T>A (n.3984-41T>A) c.3629T>A (p.Leu1210His) c.2318T>A (p.Leu773His) | |
1 | g.11788202T>C | CA338470144 | C1orf167,MTHFR | c.3401T>C (p.Leu1134Pro) c.3902T>C (p.Leu1301Pro) c.*2478A>G (n.*2478A>G) c.2037T>C c.4572A>G (n.4572A>G) c.3959T>C (p.Leu1320Pro) c.1401T>C c.1178-41T>C n.237-41T>C c.4037T>C (p.Leu1346Pro) c.3983T>C (p.Leu1328Pro) c.3984-41T>C (n.3984-41T>C) c.3629T>C (p.Leu1210Pro) c.2318T>C (p.Leu773Pro) | |
1 | g.11788202T>G | CA595078 | C1orf167,MTHFR | c.3401T>G (p.Leu1134Arg) c.3902T>G (p.Leu1301Arg) c.*2478A>C (n.*2478A>C) c.2037T>G c.4572A>C (n.4572A>C) c.3959T>G (p.Leu1320Arg) c.1401T>G c.1178-41T>G n.237-41T>G c.4037T>G (p.Leu1346Arg) c.3983T>G (p.Leu1328Arg) c.3984-41T>G (n.3984-41T>G) c.3629T>G (p.Leu1210Arg) c.2318T>G (p.Leu773Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788202T= | CA1144751603 | C1orf167,MTHFR | c.3401T= (p.Leu1134=) c.3902T= (p.Leu1301=) c.*2478A= (n.*2478A=) c.2037T= c.4572A= (n.4572A=) c.3959T= (p.Leu1320=) c.1401T= c.1178-41T= n.237-41T= c.4037T= (p.Leu1346=) c.3983T= (p.Leu1328=) c.3984-41T= (n.3984-41T=) c.3629T= (p.Leu1210=) c.2318T= (p.Leu773=) | |
1 | g.11788203C>A | CA416361732 | C1orf167,MTHFR | c.3402C>A (p.Leu1134=) c.3903C>A (p.Leu1301=) c.*2477G>T (n.*2477G>T) c.2038C>A c.4571G>T (n.4571G>T) c.3960C>A (p.Leu1320=) c.1402C>A c.1178-40C>A n.237-40C>A c.4038C>A (p.Leu1346=) c.3984C>A (p.Leu1328=) c.3984-40C>A (n.3984-40C>A) c.3630C>A (p.Leu1210=) c.2319C>A (p.Leu773=) | gnomAD v4 |
1 | g.11788203C>G | CA416361733 | C1orf167,MTHFR | c.3402C>G (p.Leu1134=) c.3903C>G (p.Leu1301=) c.*2477G>C (n.*2477G>C) c.2038C>G c.4571G>C (n.4571G>C) c.3960C>G (p.Leu1320=) c.1402C>G c.1178-40C>G n.237-40C>G c.4038C>G (p.Leu1346=) c.3984C>G (p.Leu1328=) c.3984-40C>G (n.3984-40C>G) c.3630C>G (p.Leu1210=) c.2319C>G (p.Leu773=) | |
1 | g.11788203C>T | CA416361734 | C1orf167,MTHFR | c.3402C>T (p.Leu1134=) c.3903C>T (p.Leu1301=) c.*2477G>A (n.*2477G>A) c.2038C>T c.4571G>A (n.4571G>A) c.3960C>T (p.Leu1320=) c.1402C>T c.1178-40C>T n.237-40C>T c.4038C>T (p.Leu1346=) c.3984C>T (p.Leu1328=) c.3984-40C>T (n.3984-40C>T) c.3630C>T (p.Leu1210=) c.2319C>T (p.Leu773=) | |
1 | g.11788203_11788206delinsCCTT | CA1153786981 | C1orf167,MTHFR | c.3402_3405delinsCCTT (p.Leu1134=) c.3903_3906delinsCCTT (p.Leu1301=) c.*2474_*2477delinsAAGG (n.*2474_*2477delinsAAGG) c.2038_2041delinsCCTT c.4568_4571delinsAAGG (n.4568_4571delinsAAGG) c.3960_3963delinsCCTT (p.Leu1320=) c.1402_1405delinsCCTT c.1178-40_1178-37delinsCCTT n.237-40_237-37delinsCCTT c.4038_4041delinsCCTT (p.Leu1346=) c.3984_3987delinsCCTT (p.Leu1328=) c.3984-40_3984-37delinsCCTT (n.3984-40_3984-37delinsCCTT) c.3630_3633delinsCCTT (p.Leu1210=) c.2319_2322delinsCCTT (p.Leu773=) | |
1 | g.11788204C>A | CA338470146 | C1orf167,MTHFR | c.3403C>A (p.Leu1135Ile) c.3904C>A (p.Leu1302Ile) c.*2476G>T (n.*2476G>T) c.2039C>A c.4570G>T (n.4570G>T) c.3961C>A (p.Leu1321Ile) c.1403C>A c.1178-39C>A n.237-39C>A c.4039C>A (p.Leu1347Ile) c.3985C>A (p.Leu1329Ile) c.3984-39C>A (n.3984-39C>A) c.3631C>A (p.Leu1211Ile) c.2320C>A (p.Leu774Ile) | |
1 | g.11788204C>G | CA338470147 | C1orf167,MTHFR | c.3403C>G (p.Leu1135Val) c.3904C>G (p.Leu1302Val) c.*2476G>C (n.*2476G>C) c.2039C>G c.4570G>C (n.4570G>C) c.3961C>G (p.Leu1321Val) c.1403C>G c.1178-39C>G n.237-39C>G c.4039C>G (p.Leu1347Val) c.3985C>G (p.Leu1329Val) c.3984-39C>G (n.3984-39C>G) c.3631C>G (p.Leu1211Val) c.2320C>G (p.Leu774Val) | |
1 | g.11788204C>T | CA338470148 | C1orf167,MTHFR | c.3403C>T (p.Leu1135Phe) c.3904C>T (p.Leu1302Phe) c.*2476G>A (n.*2476G>A) c.2039C>T c.4570G>A (n.4570G>A) c.3961C>T (p.Leu1321Phe) c.1403C>T c.1178-39C>T n.237-39C>T c.4039C>T (p.Leu1347Phe) c.3985C>T (p.Leu1329Phe) c.3984-39C>T (n.3984-39C>T) c.3631C>T (p.Leu1211Phe) c.2320C>T (p.Leu774Phe) | |
1 | g.11788206_11788208del | CA10607836 | C1orf167,MTHFR | c.3405_3407del (p.Leu1136del) c.3906_3908del (p.Leu1303del) c.*2474_*2476del (n.*2474_*2476del) c.2041_2043del c.4568_4570del (n.4568_4570del) c.3963_3965del (p.Leu1322del) c.1405_1407del c.1178-37_1178-35del n.237-37_237-35del c.4041_4043del (p.Leu1348del) c.3987_3989del (p.Leu1330del) c.3984-37_3984-35del (n.3984-37_3984-35del) c.3633_3635del (p.Leu1212del) c.2322_2324del (p.Leu775del) | ClinVar dbSNP gnomAD v4 |
1 | g.11788205T>A | CA338470149 | C1orf167,MTHFR | c.3404T>A (p.Leu1135His) c.3905T>A (p.Leu1302His) c.*2475A>T (n.*2475A>T) c.2040T>A c.4569A>T (n.4569A>T) c.3962T>A (p.Leu1321His) c.1404T>A c.1178-38T>A n.237-38T>A c.4040T>A (p.Leu1347His) c.3986T>A (p.Leu1329His) c.3984-38T>A (n.3984-38T>A) c.3632T>A (p.Leu1211His) c.2321T>A (p.Leu774His) | |
1 | g.11788205T>C | CA338470150 | C1orf167,MTHFR | c.3404T>C (p.Leu1135Pro) c.3905T>C (p.Leu1302Pro) c.*2475A>G (n.*2475A>G) c.2040T>C c.4569A>G (n.4569A>G) c.3962T>C (p.Leu1321Pro) c.1404T>C c.1178-38T>C n.237-38T>C c.4040T>C (p.Leu1347Pro) c.3986T>C (p.Leu1329Pro) c.3984-38T>C (n.3984-38T>C) c.3632T>C (p.Leu1211Pro) c.2321T>C (p.Leu774Pro) | |
1 | g.11788205T>G | CA17996227 | C1orf167,MTHFR | c.3404T>G (p.Leu1135Arg) c.3905T>G (p.Leu1302Arg) c.*2475A>C (n.*2475A>C) c.2040T>G c.4569A>C (n.4569A>C) c.3962T>G (p.Leu1321Arg) c.1404T>G c.1178-38T>G n.237-38T>G c.4040T>G (p.Leu1347Arg) c.3986T>G (p.Leu1329Arg) c.3984-38T>G (n.3984-38T>G) c.3632T>G (p.Leu1211Arg) c.2321T>G (p.Leu774Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11788205T= | CA1153786997 | C1orf167,MTHFR | c.3404T= (p.Leu1135=) c.3905T= (p.Leu1302=) c.*2475A= (n.*2475A=) c.2040T= c.4569A= (n.4569A=) c.3962T= (p.Leu1321=) c.1404T= c.1178-38T= n.237-38T= c.4040T= (p.Leu1347=) c.3986T= (p.Leu1329=) c.3984-38T= (n.3984-38T=) c.3632T= (p.Leu1211=) c.2321T= (p.Leu774=) | |
1 | g.11788206T>A | CA416361735 | C1orf167,MTHFR | c.3405T>A (p.Leu1135=) c.3906T>A (p.Leu1302=) c.*2474A>T (n.*2474A>T) c.2041T>A c.4568A>T (n.4568A>T) c.3963T>A (p.Leu1321=) c.1405T>A c.1178-37T>A n.237-37T>A c.4041T>A (p.Leu1347=) c.3987T>A (p.Leu1329=) c.3984-37T>A (n.3984-37T>A) c.3633T>A (p.Leu1211=) c.2322T>A (p.Leu774=) | |
1 | g.11788206T>C | CA416361736 | C1orf167,MTHFR | c.3405T>C (p.Leu1135=) c.3906T>C (p.Leu1302=) c.*2474A>G (n.*2474A>G) c.2041T>C c.4568A>G (n.4568A>G) c.3963T>C (p.Leu1321=) c.1405T>C c.1178-37T>C n.237-37T>C c.4041T>C (p.Leu1347=) c.3987T>C (p.Leu1329=) c.3984-37T>C (n.3984-37T>C) c.3633T>C (p.Leu1211=) c.2322T>C (p.Leu774=) | gnomAD v4 |
1 | g.11788206T>G | CA416361737 | C1orf167,MTHFR | c.3405T>G (p.Leu1135=) c.3906T>G (p.Leu1302=) c.*2474A>C (n.*2474A>C) c.2041T>G c.4568A>C (n.4568A>C) c.3963T>G (p.Leu1321=) c.1405T>G c.1178-37T>G n.237-37T>G c.4041T>G (p.Leu1347=) c.3987T>G (p.Leu1329=) c.3984-37T>G (n.3984-37T>G) c.3633T>G (p.Leu1211=) c.2322T>G (p.Leu774=) | |
1 | g.11788207C>A | CA338470151 | C1orf167,MTHFR | c.3406C>A (p.Leu1136Met) c.3907C>A (p.Leu1303Met) c.*2473G>T (n.*2473G>T) c.2042C>A c.4567G>T (n.4567G>T) c.3964C>A (p.Leu1322Met) c.1406C>A c.1178-36C>A n.237-36C>A c.4042C>A (p.Leu1348Met) c.3988C>A (p.Leu1330Met) c.3984-36C>A (n.3984-36C>A) c.3634C>A (p.Leu1212Met) c.2323C>A (p.Leu775Met) | gnomAD v4 |
1 | g.11788207C>G | CA338470152 | C1orf167,MTHFR | c.3406C>G (p.Leu1136Val) c.3907C>G (p.Leu1303Val) c.*2473G>C (n.*2473G>C) c.2042C>G c.4567G>C (n.4567G>C) c.3964C>G (p.Leu1322Val) c.1406C>G c.1178-36C>G n.237-36C>G c.4042C>G (p.Leu1348Val) c.3988C>G (p.Leu1330Val) c.3984-36C>G (n.3984-36C>G) c.3634C>G (p.Leu1212Val) c.2323C>G (p.Leu775Val) | |
1 | g.11788207C>T | CA416361738 | C1orf167,MTHFR | c.3406C>T (p.Leu1136=) c.3907C>T (p.Leu1303=) c.*2473G>A (n.*2473G>A) c.2042C>T c.4567G>A (n.4567G>A) c.3964C>T (p.Leu1322=) c.1406C>T c.1178-36C>T n.237-36C>T c.4042C>T (p.Leu1348=) c.3988C>T (p.Leu1330=) c.3984-36C>T (n.3984-36C>T) c.3634C>T (p.Leu1212=) c.2323C>T (p.Leu775=) | |
1 | g.11788208T>A | CA338470153 | C1orf167,MTHFR | c.3407T>A (p.Leu1136Gln) c.3908T>A (p.Leu1303Gln) c.*2472A>T (n.*2472A>T) c.2043T>A c.4566A>T (n.4566A>T) c.3965T>A (p.Leu1322Gln) c.1407T>A c.1178-35T>A n.237-35T>A c.4043T>A (p.Leu1348Gln) c.3989T>A (p.Leu1330Gln) c.3984-35T>A (n.3984-35T>A) c.3635T>A (p.Leu1212Gln) c.2324T>A (p.Leu775Gln) | |
1 | g.11788208T>C | CA338470154 | C1orf167,MTHFR | c.3407T>C (p.Leu1136Pro) c.3908T>C (p.Leu1303Pro) c.*2472A>G (n.*2472A>G) c.2043T>C c.4566A>G (n.4566A>G) c.3965T>C (p.Leu1322Pro) c.1407T>C c.1178-35T>C n.237-35T>C c.4043T>C (p.Leu1348Pro) c.3989T>C (p.Leu1330Pro) c.3984-35T>C (n.3984-35T>C) c.3635T>C (p.Leu1212Pro) c.2324T>C (p.Leu775Pro) | |
1 | g.11788208T>G | CA338470155 | C1orf167,MTHFR | c.3407T>G (p.Leu1136Arg) c.3908T>G (p.Leu1303Arg) c.*2472A>C (n.*2472A>C) c.2043T>G c.4566A>C (n.4566A>C) c.3965T>G (p.Leu1322Arg) c.1407T>G c.1178-35T>G n.237-35T>G c.4043T>G (p.Leu1348Arg) c.3989T>G (p.Leu1330Arg) c.3984-35T>G (n.3984-35T>G) c.3635T>G (p.Leu1212Arg) c.2324T>G (p.Leu775Arg) | |
1 | g.11788209G>A | CA416361739 | C1orf167,MTHFR | c.3408G>A (p.Leu1136=) c.3909G>A (p.Leu1303=) c.*2471C>T (n.*2471C>T) c.2044G>A c.4565C>T (n.4565C>T) c.3966G>A (p.Leu1322=) c.1408G>A c.1178-34G>A n.237-34G>A c.4044G>A (p.Leu1348=) c.3990G>A (p.Leu1330=) c.3984-34G>A (n.3984-34G>A) c.3636G>A (p.Leu1212=) c.2325G>A (p.Leu775=) | |
1 | g.11788209G>C | CA416361740 | C1orf167,MTHFR | c.3408G>C (p.Leu1136=) c.3909G>C (p.Leu1303=) c.*2471C>G (n.*2471C>G) c.2044G>C c.4565C>G (n.4565C>G) c.3966G>C (p.Leu1322=) c.1408G>C c.1178-34G>C n.237-34G>C c.4044G>C (p.Leu1348=) c.3990G>C (p.Leu1330=) c.3984-34G>C (n.3984-34G>C) c.3636G>C (p.Leu1212=) c.2325G>C (p.Leu775=) | |
1 | g.11788209G>T | CA416361741 | C1orf167,MTHFR | c.3408G>T (p.Leu1136=) c.3909G>T (p.Leu1303=) c.*2471C>A (n.*2471C>A) c.2044G>T c.4565C>A (n.4565C>A) c.3966G>T (p.Leu1322=) c.1408G>T c.1178-34G>T n.237-34G>T c.4044G>T (p.Leu1348=) c.3990G>T (p.Leu1330=) c.3984-34G>T (n.3984-34G>T) c.3636G>T (p.Leu1212=) c.2325G>T (p.Leu775=) | |
1 | g.11788210G>A | CA338470156 | C1orf167,MTHFR | c.3409G>A (p.Ala1137Thr) c.3910G>A (p.Ala1304Thr) c.*2470C>T (n.*2470C>T) c.2045G>A c.4564C>T (n.4564C>T) c.3967G>A (p.Ala1323Thr) c.1409G>A c.1178-33G>A n.237-33G>A c.4045G>A (p.Ala1349Thr) c.3991G>A (p.Ala1331Thr) c.3984-33G>A (n.3984-33G>A) c.3637G>A (p.Ala1213Thr) c.2326G>A (p.Ala776Thr) | |
1 | g.11788210G>C | CA338470158 | C1orf167,MTHFR | c.3409G>C (p.Ala1137Pro) c.3910G>C (p.Ala1304Pro) c.*2470C>G (n.*2470C>G) c.2045G>C c.4564C>G (n.4564C>G) c.3967G>C (p.Ala1323Pro) c.1409G>C c.1178-33G>C n.237-33G>C c.4045G>C (p.Ala1349Pro) c.3991G>C (p.Ala1331Pro) c.3984-33G>C (n.3984-33G>C) c.3637G>C (p.Ala1213Pro) c.2326G>C (p.Ala776Pro) | |
1 | g.11788210G>T | CA338470157 | C1orf167,MTHFR | c.3409G>T (p.Ala1137Ser) c.3910G>T (p.Ala1304Ser) c.*2470C>A (n.*2470C>A) c.2045G>T c.4564C>A (n.4564C>A) c.3967G>T (p.Ala1323Ser) c.1409G>T c.1178-33G>T n.237-33G>T c.4045G>T (p.Ala1349Ser) c.3991G>T (p.Ala1331Ser) c.3984-33G>T (n.3984-33G>T) c.3637G>T (p.Ala1213Ser) c.2326G>T (p.Ala776Ser) | |
1 | g.11788211C>A | CA338470159 | C1orf167,MTHFR | c.3410C>A (p.Ala1137Asp) c.3911C>A (p.Ala1304Asp) c.*2469G>T (n.*2469G>T) c.2046C>A c.4563G>T (n.4563G>T) c.3968C>A (p.Ala1323Asp) c.1410C>A c.1178-32C>A n.237-32C>A c.4046C>A (p.Ala1349Asp) c.3992C>A (p.Ala1331Asp) c.3984-32C>A (n.3984-32C>A) c.3638C>A (p.Ala1213Asp) c.2327C>A (p.Ala776Asp) | gnomAD v4 |
1 | g.11788211C>G | CA338470161 | C1orf167,MTHFR | c.3410C>G (p.Ala1137Gly) c.3911C>G (p.Ala1304Gly) c.*2469G>C (n.*2469G>C) c.2046C>G c.4563G>C (n.4563G>C) c.3968C>G (p.Ala1323Gly) c.1410C>G c.1178-32C>G n.237-32C>G c.4046C>G (p.Ala1349Gly) c.3992C>G (p.Ala1331Gly) c.3984-32C>G (n.3984-32C>G) c.3638C>G (p.Ala1213Gly) c.2327C>G (p.Ala776Gly) | |
1 | g.11788211C>T | CA338470160 | C1orf167,MTHFR | c.3410C>T (p.Ala1137Val) c.3911C>T (p.Ala1304Val) c.*2469G>A (n.*2469G>A) c.2046C>T c.4563G>A (n.4563G>A) c.3968C>T (p.Ala1323Val) c.1410C>T c.1178-32C>T n.237-32C>T c.4046C>T (p.Ala1349Val) c.3992C>T (p.Ala1331Val) c.3984-32C>T (n.3984-32C>T) c.3638C>T (p.Ala1213Val) c.2327C>T (p.Ala776Val) | |
1 | g.11788212C>A | CA416361742 | C1orf167,MTHFR | c.3411C>A (p.Ala1137=) c.3912C>A (p.Ala1304=) c.*2468G>T (n.*2468G>T) c.2047C>A c.4562G>T (n.4562G>T) c.3969C>A (p.Ala1323=) c.1411C>A c.1178-31C>A n.237-31C>A c.4047C>A (p.Ala1349=) c.3993C>A (p.Ala1331=) c.3984-31C>A (n.3984-31C>A) c.3639C>A (p.Ala1213=) c.2328C>A (p.Ala776=) | gnomAD v4 |
1 | g.11788212C>G | CA416361743 | C1orf167,MTHFR | c.3411C>G (p.Ala1137=) c.3912C>G (p.Ala1304=) c.*2468G>C (n.*2468G>C) c.2047C>G c.4562G>C (n.4562G>C) c.3969C>G (p.Ala1323=) c.1411C>G c.1178-31C>G n.237-31C>G c.4047C>G (p.Ala1349=) c.3993C>G (p.Ala1331=) c.3984-31C>G (n.3984-31C>G) c.3639C>G (p.Ala1213=) c.2328C>G (p.Ala776=) | |
1 | g.11788212C>T | CA416361744 | C1orf167,MTHFR | c.3411C>T (p.Ala1137=) c.3912C>T (p.Ala1304=) c.*2468G>A (n.*2468G>A) c.2047C>T c.4562G>A (n.4562G>A) c.3969C>T (p.Ala1323=) c.1411C>T c.1178-31C>T n.237-31C>T c.4047C>T (p.Ala1349=) c.3993C>T (p.Ala1331=) c.3984-31C>T (n.3984-31C>T) c.3639C>T (p.Ala1213=) c.2328C>T (p.Ala776=) | |
1 | g.11788213C>A | CA338470162 | C1orf167,MTHFR | c.3412C>A (p.Leu1138Met) c.3913C>A (p.Leu1305Met) c.*2467G>T (n.*2467G>T) c.2048C>A c.4561G>T (n.4561G>T) c.3970C>A (p.Leu1324Met) c.1412C>A c.1178-30C>A n.237-30C>A c.4048C>A (p.Leu1350Met) c.3994C>A (p.Leu1332Met) c.3984-30C>A (n.3984-30C>A) c.3640C>A (p.Leu1214Met) c.2329C>A (p.Leu777Met) | |
1 | g.11788213C>G | CA338470163 | C1orf167,MTHFR | c.3412C>G (p.Leu1138Val) c.3913C>G (p.Leu1305Val) c.*2467G>C (n.*2467G>C) c.2048C>G c.4561G>C (n.4561G>C) c.3970C>G (p.Leu1324Val) c.1412C>G c.1178-30C>G n.237-30C>G c.4048C>G (p.Leu1350Val) c.3994C>G (p.Leu1332Val) c.3984-30C>G (n.3984-30C>G) c.3640C>G (p.Leu1214Val) c.2329C>G (p.Leu777Val) | gnomAD v4 |
1 | g.11788213C>T | CA416361745 | C1orf167,MTHFR | c.3412C>T (p.Leu1138=) c.3913C>T (p.Leu1305=) c.*2467G>A (n.*2467G>A) c.2048C>T c.4561G>A (n.4561G>A) c.3970C>T (p.Leu1324=) c.1412C>T c.1178-30C>T n.237-30C>T c.4048C>T (p.Leu1350=) c.3994C>T (p.Leu1332=) c.3984-30C>T (n.3984-30C>T) c.3640C>T (p.Leu1214=) c.2329C>T (p.Leu777=) | gnomAD v4 |
1 | g.11788214T>A | CA338470164 | C1orf167,MTHFR | c.3413T>A (p.Leu1138Gln) c.3914T>A (p.Leu1305Gln) c.*2466A>T (n.*2466A>T) c.2049T>A c.4560A>T (n.4560A>T) c.3971T>A (p.Leu1324Gln) c.1413T>A c.1178-29T>A n.237-29T>A c.4049T>A (p.Leu1350Gln) c.3995T>A (p.Leu1332Gln) c.3984-29T>A (n.3984-29T>A) c.3641T>A (p.Leu1214Gln) c.2330T>A (p.Leu777Gln) | |
1 | g.11788214T>C | CA338470165 | C1orf167,MTHFR | c.3413T>C (p.Leu1138Pro) c.3914T>C (p.Leu1305Pro) c.*2466A>G (n.*2466A>G) c.2049T>C c.4560A>G (n.4560A>G) c.3971T>C (p.Leu1324Pro) c.1413T>C c.1178-29T>C n.237-29T>C c.4049T>C (p.Leu1350Pro) c.3995T>C (p.Leu1332Pro) c.3984-29T>C (n.3984-29T>C) c.3641T>C (p.Leu1214Pro) c.2330T>C (p.Leu777Pro) | |
1 | g.11788214T>G | CA338470166 | C1orf167,MTHFR | c.3413T>G (p.Leu1138Arg) c.3914T>G (p.Leu1305Arg) c.*2466A>C (n.*2466A>C) c.2049T>G c.4560A>C (n.4560A>C) c.3971T>G (p.Leu1324Arg) c.1413T>G c.1178-29T>G n.237-29T>G c.4049T>G (p.Leu1350Arg) c.3995T>G (p.Leu1332Arg) c.3984-29T>G (n.3984-29T>G) c.3641T>G (p.Leu1214Arg) c.2330T>G (p.Leu777Arg) | |
1 | g.11788215G>A | CA416361746 | C1orf167,MTHFR | c.3414G>A (p.Leu1138=) c.3915G>A (p.Leu1305=) c.*2465C>T (n.*2465C>T) c.2050G>A c.4559C>T (n.4559C>T) c.3972G>A (p.Leu1324=) c.1414G>A c.1178-28G>A n.237-28G>A c.4050G>A (p.Leu1350=) c.3996G>A (p.Leu1332=) c.3984-28G>A (n.3984-28G>A) c.3642G>A (p.Leu1214=) c.2331G>A (p.Leu777=) | dbSNP gnomAD v4 |
1 | g.11788215G>C | CA416361747 | C1orf167,MTHFR | c.3414G>C (p.Leu1138=) c.3915G>C (p.Leu1305=) c.*2465C>G (n.*2465C>G) c.2050G>C c.4559C>G (n.4559C>G) c.3972G>C (p.Leu1324=) c.1414G>C c.1178-28G>C n.237-28G>C c.4050G>C (p.Leu1350=) c.3996G>C (p.Leu1332=) c.3984-28G>C (n.3984-28G>C) c.3642G>C (p.Leu1214=) c.2331G>C (p.Leu777=) | |
1 | g.11788215G= | CA1153787003 | C1orf167,MTHFR | c.3414G= (p.Leu1138=) c.3915G= (p.Leu1305=) c.*2465C= (n.*2465C=) c.2050G= c.4559C= (n.4559C=) c.3972G= (p.Leu1324=) c.1414G= c.1178-28G= n.237-28G= c.4050G= (p.Leu1350=) c.3996G= (p.Leu1332=) c.3984-28G= (n.3984-28G=) c.3642G= (p.Leu1214=) c.2331G= (p.Leu777=) | |
1 | g.11788215G>T | CA416361748 | C1orf167,MTHFR | c.3414G>T (p.Leu1138=) c.3915G>T (p.Leu1305=) c.*2465C>A (n.*2465C>A) c.2050G>T c.4559C>A (n.4559C>A) c.3972G>T (p.Leu1324=) c.1414G>T c.1178-28G>T n.237-28G>T c.4050G>T (p.Leu1350=) c.3996G>T (p.Leu1332=) c.3984-28G>T (n.3984-28G>T) c.3642G>T (p.Leu1214=) c.2331G>T (p.Leu777=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788216A>C | CA338470167 | C1orf167,MTHFR | c.3415A>C (p.Lys1139Gln) c.3916A>C (p.Lys1306Gln) c.*2464T>G (n.*2464T>G) c.2051A>C c.4558T>G (n.4558T>G) c.3973A>C (p.Lys1325Gln) c.1415A>C c.1178-27A>C n.237-27A>C c.4051A>C (p.Lys1351Gln) c.3997A>C (p.Lys1333Gln) c.3984-27A>C (n.3984-27A>C) c.3643A>C (p.Lys1215Gln) c.2332A>C (p.Lys778Gln) | |
1 | g.11788216A>G | CA338470168 | C1orf167,MTHFR | c.3415A>G (p.Lys1139Glu) c.3916A>G (p.Lys1306Glu) c.*2464T>C (n.*2464T>C) c.2051A>G c.4558T>C (n.4558T>C) c.3973A>G (p.Lys1325Glu) c.1415A>G c.1178-27A>G n.237-27A>G c.4051A>G (p.Lys1351Glu) c.3997A>G (p.Lys1333Glu) c.3984-27A>G (n.3984-27A>G) c.3643A>G (p.Lys1215Glu) c.2332A>G (p.Lys778Glu) | |
1 | g.11788216A>T | CA338470169 | C1orf167,MTHFR | c.3415A>T (p.Lys1139Ter) c.3916A>T (p.Lys1306Ter) c.*2464T>A (n.*2464T>A) c.2051A>T c.4558T>A (n.4558T>A) c.3973A>T (p.Lys1325Ter) c.1415A>T c.1178-27A>T n.237-27A>T c.4051A>T (p.Lys1351Ter) c.3997A>T (p.Lys1333Ter) c.3984-27A>T (n.3984-27A>T) c.3643A>T (p.Lys1215Ter) c.2332A>T (p.Lys778Ter) | |
1 | g.11788216_11788219delinsAAGG | CA1153787012 | C1orf167,MTHFR | c.3415_3418delinsAAGG (p.Lys1139=) c.3916_3919delinsAAGG (p.Lys1306=) c.*2461_*2464delinsCCTT (n.*2461_*2464delinsCCTT) c.2051_2054delinsAAGG c.4555_4558delinsCCTT (n.4555_4558delinsCCTT) c.3973_3976delinsAAGG (p.Lys1325=) c.1415_1418delinsAAGG c.1178-27_1178-24delinsAAGG n.237-27_237-24delinsAAGG c.4051_4054delinsAAGG (p.Lys1351=) c.3997_4000delinsAAGG (p.Lys1333=) c.3984-27_3984-24delinsAAGG (n.3984-27_3984-24delinsAAGG) c.3643_3646delinsAAGG (p.Lys1215=) c.2332_2335delinsAAGG (p.Lys778=) | |
1 | g.11788217A= | CA1153787021 | C1orf167,MTHFR | c.3416A= (p.Lys1139=) c.3917A= (p.Lys1306=) c.*2463T= (n.*2463T=) c.2052A= c.4557T= (n.4557T=) c.3974A= (p.Lys1325=) c.1416A= c.1178-26A= n.237-26A= c.4052A= (p.Lys1351=) c.3998A= (p.Lys1333=) c.3984-26A= (n.3984-26A=) c.3644A= (p.Lys1215=) c.2333A= (p.Lys778=) | |
1 | g.11788217A>C | CA338470170 | C1orf167,MTHFR | c.3416A>C (p.Lys1139Thr) c.3917A>C (p.Lys1306Thr) c.*2463T>G (n.*2463T>G) c.2052A>C c.4557T>G (n.4557T>G) c.3974A>C (p.Lys1325Thr) c.1416A>C c.1178-26A>C n.237-26A>C c.4052A>C (p.Lys1351Thr) c.3998A>C (p.Lys1333Thr) c.3984-26A>C (n.3984-26A>C) c.3644A>C (p.Lys1215Thr) c.2333A>C (p.Lys778Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788217A>G | CA338470171 | C1orf167,MTHFR | c.3416A>G (p.Lys1139Arg) c.3917A>G (p.Lys1306Arg) c.*2463T>C (n.*2463T>C) c.2052A>G c.4557T>C (n.4557T>C) c.3974A>G (p.Lys1325Arg) c.1416A>G c.1178-26A>G n.237-26A>G c.4052A>G (p.Lys1351Arg) c.3998A>G (p.Lys1333Arg) c.3984-26A>G (n.3984-26A>G) c.3644A>G (p.Lys1215Arg) c.2333A>G (p.Lys778Arg) | |
1 | g.11788217A>T | CA338470172 | C1orf167,MTHFR | c.3416A>T (p.Lys1139Met) c.3917A>T (p.Lys1306Met) c.*2463T>A (n.*2463T>A) c.2052A>T c.4557T>A (n.4557T>A) c.3974A>T (p.Lys1325Met) c.1416A>T c.1178-26A>T n.237-26A>T c.4052A>T (p.Lys1351Met) c.3998A>T (p.Lys1333Met) c.3984-26A>T (n.3984-26A>T) c.3644A>T (p.Lys1215Met) c.2333A>T (p.Lys778Met) | |
1 | g.11788217_11788219del | CA1153787019 | C1orf167,MTHFR | c.3416_3418del (p.Lys1139_Gly1140delinsSer) c.3917_3919del (p.Lys1306_Gly1307delinsSer) c.*2461_*2463del (n.*2461_*2463del) c.2052_2054del c.4555_4557del (n.4555_4557del) c.3974_3976del (p.Lys1325_Gly1326delinsSer) c.1416_1418del c.1178-26_1178-24del n.237-26_237-24del c.4052_4054del (p.Lys1351_Gly1352delinsSer) c.3998_4000del (p.Lys1333_Gly1334delinsSer) c.3984-26_3984-24del (n.3984-26_3984-24del) c.3644_3646del (p.Lys1215_Gly1216delinsSer) c.2333_2335del (p.Lys778_Gly779delinsSer) | dbSNP |
1 | g.11788218G>A | CA416361749 | C1orf167,MTHFR | c.3417G>A (p.Lys1139=) c.3918G>A (p.Lys1306=) c.*2462C>T (n.*2462C>T) c.2053G>A c.4556C>T (n.4556C>T) c.3975G>A (p.Lys1325=) c.1417G>A c.1178-25G>A n.237-25G>A c.4053G>A (p.Lys1351=) c.3999G>A (p.Lys1333=) c.3984-25G>A (n.3984-25G>A) c.3645G>A (p.Lys1215=) c.2334G>A (p.Lys778=) | |
1 | g.11788218G>C | CA338470173 | C1orf167,MTHFR | c.3417G>C (p.Lys1139Asn) c.3918G>C (p.Lys1306Asn) c.*2462C>G (n.*2462C>G) c.2053G>C c.4556C>G (n.4556C>G) c.3975G>C (p.Lys1325Asn) c.1417G>C c.1178-25G>C n.237-25G>C c.4053G>C (p.Lys1351Asn) c.3999G>C (p.Lys1333Asn) c.3984-25G>C (n.3984-25G>C) c.3645G>C (p.Lys1215Asn) c.2334G>C (p.Lys778Asn) | |
1 | g.11788218G>T | CA338470174 | C1orf167,MTHFR | c.3417G>T (p.Lys1139Asn) c.3918G>T (p.Lys1306Asn) c.*2462C>A (n.*2462C>A) c.2053G>T c.4556C>A (n.4556C>A) c.3975G>T (p.Lys1325Asn) c.1417G>T c.1178-25G>T n.237-25G>T c.4053G>T (p.Lys1351Asn) c.3999G>T (p.Lys1333Asn) c.3984-25G>T (n.3984-25G>T) c.3645G>T (p.Lys1215Asn) c.2334G>T (p.Lys778Asn) | |
1 | g.11788220del | CA2643295635 | C1orf167,MTHFR | c.3419del (p.Gly1140ValfsTer?) c.3920del (p.Gly1307ValfsTer?) c.*2462del (n.*2462del) c.2055del c.4556del (n.4556del) c.3977del (p.Gly1326ValfsTer?) c.1419del c.1178-23del n.237-23del c.4055del (p.Gly1352ValfsTer?) c.4001del (p.Gly1334ValfsTer?) c.3984-23del (n.3984-23del) c.3647del (p.Gly1216ValfsTer?) c.2336del (p.Gly779ValfsTer?) | gnomAD v4 |
1 | g.11788219G>A | CA338470175 | C1orf167,MTHFR | c.3418G>A (p.Gly1140Ser) c.3919G>A (p.Gly1307Ser) c.*2461C>T (n.*2461C>T) c.2054G>A c.4555C>T (n.4555C>T) c.3976G>A (p.Gly1326Ser) c.1418G>A c.1178-24G>A n.237-24G>A c.4054G>A (p.Gly1352Ser) c.4000G>A (p.Gly1334Ser) c.3984-24G>A (n.3984-24G>A) c.3646G>A (p.Gly1216Ser) c.2335G>A (p.Gly779Ser) | |
1 | g.11788219G>C | CA338470177 | C1orf167,MTHFR | c.3418G>C (p.Gly1140Arg) c.3919G>C (p.Gly1307Arg) c.*2461C>G (n.*2461C>G) c.2054G>C c.4555C>G (n.4555C>G) c.3976G>C (p.Gly1326Arg) c.1418G>C c.1178-24G>C n.237-24G>C c.4054G>C (p.Gly1352Arg) c.4000G>C (p.Gly1334Arg) c.3984-24G>C (n.3984-24G>C) c.3646G>C (p.Gly1216Arg) c.2335G>C (p.Gly779Arg) | dbSNP gnomAD v4 |
1 | g.11788219G= | CA1153787027 | C1orf167,MTHFR | c.3418G= (p.Gly1140=) c.3919G= (p.Gly1307=) c.*2461C= (n.*2461C=) c.2054G= c.4555C= (n.4555C=) c.3976G= (p.Gly1326=) c.1418G= c.1178-24G= n.237-24G= c.4054G= (p.Gly1352=) c.4000G= (p.Gly1334=) c.3984-24G= (n.3984-24G=) c.3646G= (p.Gly1216=) c.2335G= (p.Gly779=) | |
1 | g.11788219G>T | CA338470176 | C1orf167,MTHFR | c.3418G>T (p.Gly1140Cys) c.3919G>T (p.Gly1307Cys) c.*2461C>A (n.*2461C>A) c.2054G>T c.4555C>A (n.4555C>A) c.3976G>T (p.Gly1326Cys) c.1418G>T c.1178-24G>T n.237-24G>T c.4054G>T (p.Gly1352Cys) c.4000G>T (p.Gly1334Cys) c.3984-24G>T (n.3984-24G>T) c.3646G>T (p.Gly1216Cys) c.2335G>T (p.Gly779Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788220G>A | CA338470178 | C1orf167,MTHFR | c.3419G>A (p.Gly1140Asp) c.3920G>A (p.Gly1307Asp) c.*2460C>T (n.*2460C>T) c.2055G>A c.4554C>T (n.4554C>T) c.3977G>A (p.Gly1326Asp) c.1419G>A c.1178-23G>A n.237-23G>A c.4055G>A (p.Gly1352Asp) c.4001G>A (p.Gly1334Asp) c.3984-23G>A (n.3984-23G>A) c.3647G>A (p.Gly1216Asp) c.2336G>A (p.Gly779Asp) | |
1 | g.11788220G>C | CA338470179 | C1orf167,MTHFR | c.3419G>C (p.Gly1140Ala) c.3920G>C (p.Gly1307Ala) c.*2460C>G (n.*2460C>G) c.2055G>C c.4554C>G (n.4554C>G) c.3977G>C (p.Gly1326Ala) c.1419G>C c.1178-23G>C n.237-23G>C c.4055G>C (p.Gly1352Ala) c.4001G>C (p.Gly1334Ala) c.3984-23G>C (n.3984-23G>C) c.3647G>C (p.Gly1216Ala) c.2336G>C (p.Gly779Ala) | dbSNP gnomAD v4 |
1 | g.11788220G= | CA1153787031 | C1orf167,MTHFR | c.3419G= (p.Gly1140=) c.3920G= (p.Gly1307=) c.*2460C= (n.*2460C=) c.2055G= c.4554C= (n.4554C=) c.3977G= (p.Gly1326=) c.1419G= c.1178-23G= n.237-23G= c.4055G= (p.Gly1352=) c.4001G= (p.Gly1334=) c.3984-23G= (n.3984-23G=) c.3647G= (p.Gly1216=) c.2336G= (p.Gly779=) | |
1 | g.11788220G>T | CA338470180 | C1orf167,MTHFR | c.3419G>T (p.Gly1140Val) c.3920G>T (p.Gly1307Val) c.*2460C>A (n.*2460C>A) c.2055G>T c.4554C>A (n.4554C>A) c.3977G>T (p.Gly1326Val) c.1419G>T c.1178-23G>T n.237-23G>T c.4055G>T (p.Gly1352Val) c.4001G>T (p.Gly1334Val) c.3984-23G>T (n.3984-23G>T) c.3647G>T (p.Gly1216Val) c.2336G>T (p.Gly779Val) | |
1 | g.11788221T>A | CA416361750 | C1orf167,MTHFR | c.3420T>A (p.Gly1140=) c.3921T>A (p.Gly1307=) c.*2459A>T (n.*2459A>T) c.2056T>A c.4553A>T (n.4553A>T) c.3978T>A (p.Gly1326=) c.1420T>A c.1178-22T>A n.237-22T>A c.4056T>A (p.Gly1352=) c.4002T>A (p.Gly1334=) c.3984-22T>A (n.3984-22T>A) c.3648T>A (p.Gly1216=) c.2337T>A (p.Gly779=) | |
1 | g.11788221T>C | CA416361751 | C1orf167,MTHFR | c.3420T>C (p.Gly1140=) c.3921T>C (p.Gly1307=) c.*2459A>G (n.*2459A>G) c.2056T>C c.4553A>G (n.4553A>G) c.3978T>C (p.Gly1326=) c.1420T>C c.1178-22T>C n.237-22T>C c.4056T>C (p.Gly1352=) c.4002T>C (p.Gly1334=) c.3984-22T>C (n.3984-22T>C) c.3648T>C (p.Gly1216=) c.2337T>C (p.Gly779=) | gnomAD v4 |
1 | g.11788221T>G | CA416361752 | C1orf167,MTHFR | c.3420T>G (p.Gly1140=) c.3921T>G (p.Gly1307=) c.*2459A>C (n.*2459A>C) c.2056T>G c.4553A>C (n.4553A>C) c.3978T>G (p.Gly1326=) c.1420T>G c.1178-22T>G n.237-22T>G c.4056T>G (p.Gly1352=) c.4002T>G (p.Gly1334=) c.3984-22T>G (n.3984-22T>G) c.3648T>G (p.Gly1216=) c.2337T>G (p.Gly779=) | |
1 | g.11788222C>A | CA338470181 | C1orf167,MTHFR | c.3421C>A (p.His1141Asn) c.3922C>A (p.His1308Asn) c.*2458G>T (n.*2458G>T) c.2057C>A c.4552G>T (n.4552G>T) c.3979C>A (p.His1327Asn) c.1421C>A c.1178-21C>A n.237-21C>A c.4057C>A (p.His1353Asn) c.4003C>A (p.His1335Asn) c.3984-21C>A (n.3984-21C>A) c.3649C>A (p.His1217Asn) c.2338C>A (p.His780Asn) | |
1 | g.11788222C>G | CA338470182 | C1orf167,MTHFR | c.3421C>G (p.His1141Asp) c.3922C>G (p.His1308Asp) c.*2458G>C (n.*2458G>C) c.2057C>G c.4552G>C (n.4552G>C) c.3979C>G (p.His1327Asp) c.1421C>G c.1178-21C>G n.237-21C>G c.4057C>G (p.His1353Asp) c.4003C>G (p.His1335Asp) c.3984-21C>G (n.3984-21C>G) c.3649C>G (p.His1217Asp) c.2338C>G (p.His780Asp) | |
1 | g.11788222C>T | CA338470183 | C1orf167,MTHFR | c.3421C>T (p.His1141Tyr) c.3922C>T (p.His1308Tyr) c.*2458G>A (n.*2458G>A) c.2057C>T c.4552G>A (n.4552G>A) c.3979C>T (p.His1327Tyr) c.1421C>T c.1178-21C>T n.237-21C>T c.4057C>T (p.His1353Tyr) c.4003C>T (p.His1335Tyr) c.3984-21C>T (n.3984-21C>T) c.3649C>T (p.His1217Tyr) c.2338C>T (p.His780Tyr) | |
1 | g.11788223A= | CA1153787037 | C1orf167,MTHFR | c.3422A= (p.His1141=) c.3923A= (p.His1308=) c.*2457T= (n.*2457T=) c.2058A= c.4551T= (n.4551T=) c.3980A= (p.His1327=) c.1422A= c.1178-20A= n.237-20A= c.4058A= (p.His1353=) c.4004A= (p.His1335=) c.3984-20A= (n.3984-20A=) c.3650A= (p.His1217=) c.2339A= (p.His780=) | |
1 | g.11788223A>C | CA338470184 | C1orf167,MTHFR | c.3422A>C (p.His1141Pro) c.3923A>C (p.His1308Pro) c.*2457T>G (n.*2457T>G) c.2058A>C c.4551T>G (n.4551T>G) c.3980A>C (p.His1327Pro) c.1422A>C c.1178-20A>C n.237-20A>C c.4058A>C (p.His1353Pro) c.4004A>C (p.His1335Pro) c.3984-20A>C (n.3984-20A>C) c.3650A>C (p.His1217Pro) c.2339A>C (p.His780Pro) | |
1 | g.11788223A>G | CA338470185 | C1orf167,MTHFR | c.3422A>G (p.His1141Arg) c.3923A>G (p.His1308Arg) c.*2457T>C (n.*2457T>C) c.2058A>G c.4551T>C (n.4551T>C) c.3980A>G (p.His1327Arg) c.1422A>G c.1178-20A>G n.237-20A>G c.4058A>G (p.His1353Arg) c.4004A>G (p.His1335Arg) c.3984-20A>G (n.3984-20A>G) c.3650A>G (p.His1217Arg) c.2339A>G (p.His780Arg) | |
1 | g.11788223A>T | CA338470186 | C1orf167,MTHFR | c.3422A>T (p.His1141Leu) c.3923A>T (p.His1308Leu) c.*2457T>A (n.*2457T>A) c.2058A>T c.4551T>A (n.4551T>A) c.3980A>T (p.His1327Leu) c.1422A>T c.1178-20A>T n.237-20A>T c.4058A>T (p.His1353Leu) c.4004A>T (p.His1335Leu) c.3984-20A>T (n.3984-20A>T) c.3650A>T (p.His1217Leu) c.2339A>T (p.His780Leu) | |
1 | g.11788224C>A | CA338470188 | C1orf167,MTHFR | c.3423C>A (p.His1141Gln) c.3924C>A (p.His1308Gln) c.*2456G>T (n.*2456G>T) c.2059C>A c.4550G>T (n.4550G>T) c.3981C>A (p.His1327Gln) c.1423C>A c.1178-19C>A n.237-19C>A c.4059C>A (p.His1353Gln) c.4005C>A (p.His1335Gln) c.3984-19C>A (n.3984-19C>A) c.3651C>A (p.His1217Gln) c.2340C>A (p.His780Gln) | |
1 | g.11788224C= | CA1153787042 | C1orf167,MTHFR | c.3423C= (p.His1141=) c.3924C= (p.His1308=) c.*2456G= (n.*2456G=) c.2059C= c.4550G= (n.4550G=) c.3981C= (p.His1327=) c.1423C= c.1178-19C= n.237-19C= c.4059C= (p.His1353=) c.4005C= (p.His1335=) c.3984-19C= (n.3984-19C=) c.3651C= (p.His1217=) c.2340C= (p.His780=) | |
1 | g.11788224C>G | CA338470187 | C1orf167,MTHFR | c.3423C>G (p.His1141Gln) c.3924C>G (p.His1308Gln) c.*2456G>C (n.*2456G>C) c.2059C>G c.4550G>C (n.4550G>C) c.3981C>G (p.His1327Gln) c.1423C>G c.1178-19C>G n.237-19C>G c.4059C>G (p.His1353Gln) c.4005C>G (p.His1335Gln) c.3984-19C>G (n.3984-19C>G) c.3651C>G (p.His1217Gln) c.2340C>G (p.His780Gln) | |
1 | g.11788224C>T | CA595079 | C1orf167,MTHFR | c.3423C>T (p.His1141=) c.3924C>T (p.His1308=) c.*2456G>A (n.*2456G>A) c.2059C>T c.4550G>A (n.4550G>A) c.3981C>T (p.His1327=) c.1423C>T c.1178-19C>T n.237-19C>T c.4059C>T (p.His1353=) c.4005C>T (p.His1335=) c.3984-19C>T (n.3984-19C>T) c.3651C>T (p.His1217=) c.2340C>T (p.His780=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788224_11788227dup | CA886036683 | C1orf167,MTHFR | c.3423_3426dup (p.Ala1143ArgfsTer?) c.3924_3927dup (p.Ala1310ArgfsTer?) c.*2453_*2456dup (n.*2453_*2456dup) c.2059_2062dup c.4547_4550dup (n.4547_4550dup) c.3981_3984dup (p.Ala1329ArgfsTer?) c.1423_1426dup c.1178-19_1178-16dup n.237-19_237-16dup c.4059_4062dup (p.Ala1355ArgfsTer?) c.4005_4008dup (p.Ala1337ArgfsTer?) c.3984-19_3984-16dup (n.3984-19_3984-16dup) c.3651_3654dup (p.Ala1219ArgfsTer?) c.2340_2343dup (p.Ala782ArgfsTer?) | dbSNP |
1 | g.11788225G>A | CA595080 | C1orf167,MTHFR | c.3424G>A (p.Asp1142Asn) c.3925G>A (p.Asp1309Asn) c.*2455C>T (n.*2455C>T) c.2060G>A c.4549C>T (n.4549C>T) c.3982G>A (p.Asp1328Asn) c.1424G>A c.1178-18G>A n.237-18G>A c.4060G>A (p.Asp1354Asn) c.4006G>A (p.Asp1336Asn) c.3984-18G>A (n.3984-18G>A) c.3652G>A (p.Asp1218Asn) c.2341G>A (p.Asp781Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11788225G>C | CA338470189 | C1orf167,MTHFR | c.3424G>C (p.Asp1142His) c.3925G>C (p.Asp1309His) c.*2455C>G (n.*2455C>G) c.2060G>C c.4549C>G (n.4549C>G) c.3982G>C (p.Asp1328His) c.1424G>C c.1178-18G>C n.237-18G>C c.4060G>C (p.Asp1354His) c.4006G>C (p.Asp1336His) c.3984-18G>C (n.3984-18G>C) c.3652G>C (p.Asp1218His) c.2341G>C (p.Asp781His) | dbSNP |
1 | g.11788225G= | CA1153787051 | C1orf167,MTHFR | c.3424G= (p.Asp1142=) c.3925G= (p.Asp1309=) c.*2455C= (n.*2455C=) c.2060G= c.4549C= (n.4549C=) c.3982G= (p.Asp1328=) c.1424G= c.1178-18G= n.237-18G= c.4060G= (p.Asp1354=) c.4006G= (p.Asp1336=) c.3984-18G= (n.3984-18G=) c.3652G= (p.Asp1218=) c.2341G= (p.Asp781=) | |
1 | g.11788225G>T | CA338470190 | C1orf167,MTHFR | c.3424G>T (p.Asp1142Tyr) c.3925G>T (p.Asp1309Tyr) c.*2455C>A (n.*2455C>A) c.2060G>T c.4549C>A (n.4549C>A) c.3982G>T (p.Asp1328Tyr) c.1424G>T c.1178-18G>T n.237-18G>T c.4060G>T (p.Asp1354Tyr) c.4006G>T (p.Asp1336Tyr) c.3984-18G>T (n.3984-18G>T) c.3652G>T (p.Asp1218Tyr) c.2341G>T (p.Asp781Tyr) | |
1 | g.11788226A>C | CA338470191 | C1orf167,MTHFR | c.3425A>C (p.Asp1142Ala) c.3926A>C (p.Asp1309Ala) c.*2454T>G (n.*2454T>G) c.2061A>C c.4548T>G (n.4548T>G) c.3983A>C (p.Asp1328Ala) c.1425A>C c.1178-17A>C n.237-17A>C c.4061A>C (p.Asp1354Ala) c.4007A>C (p.Asp1336Ala) c.3984-17A>C (n.3984-17A>C) c.3653A>C (p.Asp1218Ala) c.2342A>C (p.Asp781Ala) | |
1 | g.11788226A>G | CA338470192 | C1orf167,MTHFR | c.3425A>G (p.Asp1142Gly) c.3926A>G (p.Asp1309Gly) c.*2454T>C (n.*2454T>C) c.2061A>G c.4548T>C (n.4548T>C) c.3983A>G (p.Asp1328Gly) c.1425A>G c.1178-17A>G n.237-17A>G c.4061A>G (p.Asp1354Gly) c.4007A>G (p.Asp1336Gly) c.3984-17A>G (n.3984-17A>G) c.3653A>G (p.Asp1218Gly) c.2342A>G (p.Asp781Gly) | |
1 | g.11788226A>T | CA338470193 | C1orf167,MTHFR | c.3425A>T (p.Asp1142Val) c.3926A>T (p.Asp1309Val) c.*2454T>A (n.*2454T>A) c.2061A>T c.4548T>A (n.4548T>A) c.3983A>T (p.Asp1328Val) c.1425A>T c.1178-17A>T n.237-17A>T c.4061A>T (p.Asp1354Val) c.4007A>T (p.Asp1336Val) c.3984-17A>T (n.3984-17A>T) c.3653A>T (p.Asp1218Val) c.2342A>T (p.Asp781Val) | |
1 | g.11788227T>A | CA338470195 | C1orf167,MTHFR | c.3426T>A (p.Asp1142Glu) c.3927T>A (p.Asp1309Glu) c.*2453A>T (n.*2453A>T) c.2062T>A c.4547A>T (n.4547A>T) c.3984T>A (p.Asp1328Glu) c.1426T>A c.1178-16T>A n.237-16T>A c.4062T>A (p.Asp1354Glu) c.4008T>A (p.Asp1336Glu) c.3984-16T>A (n.3984-16T>A) c.3654T>A (p.Asp1218Glu) c.2343T>A (p.Asp781Glu) | |
1 | g.11788227T>C | CA416361753 | C1orf167,MTHFR | c.3426T>C (p.Asp1142=) c.3927T>C (p.Asp1309=) c.*2453A>G (n.*2453A>G) c.2062T>C c.4547A>G (n.4547A>G) c.3984T>C (p.Asp1328=) c.1426T>C c.1178-16T>C n.237-16T>C c.4062T>C (p.Asp1354=) c.4008T>C (p.Asp1336=) c.3984-16T>C (n.3984-16T>C) c.3654T>C (p.Asp1218=) c.2343T>C (p.Asp781=) | |
1 | g.11788227T>G | CA338470194 | C1orf167,MTHFR | c.3426T>G (p.Asp1142Glu) c.3927T>G (p.Asp1309Glu) c.*2453A>C (n.*2453A>C) c.2062T>G c.4547A>C (n.4547A>C) c.3984T>G (p.Asp1328Glu) c.1426T>G c.1178-16T>G n.237-16T>G c.4062T>G (p.Asp1354Glu) c.4008T>G (p.Asp1336Glu) c.3984-16T>G (n.3984-16T>G) c.3654T>G (p.Asp1218Glu) c.2343T>G (p.Asp781Glu) | |
1 | g.11788228G>A | CA338470196 | C1orf167,MTHFR | c.3427G>A (p.Ala1143Thr) c.3928G>A (p.Ala1310Thr) c.*2452C>T (n.*2452C>T) c.2063G>A c.4546C>T (n.4546C>T) c.3985G>A (p.Ala1329Thr) c.1427G>A c.1178-15G>A n.237-15G>A c.4063G>A (p.Ala1355Thr) c.4009G>A (p.Ala1337Thr) c.3984-15G>A (n.3984-15G>A) c.3655G>A (p.Ala1219Thr) c.2344G>A (p.Ala782Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788228G>C | CA338470197 | C1orf167,MTHFR | c.3427G>C (p.Ala1143Pro) c.3928G>C (p.Ala1310Pro) c.*2452C>G (n.*2452C>G) c.2063G>C c.4546C>G (n.4546C>G) c.3985G>C (p.Ala1329Pro) c.1427G>C c.1178-15G>C n.237-15G>C c.4063G>C (p.Ala1355Pro) c.4009G>C (p.Ala1337Pro) c.3984-15G>C (n.3984-15G>C) c.3655G>C (p.Ala1219Pro) c.2344G>C (p.Ala782Pro) | |
1 | g.11788228G= | CA1153787058 | C1orf167,MTHFR | c.3427G= (p.Ala1143=) c.3928G= (p.Ala1310=) c.*2452C= (n.*2452C=) c.2063G= c.4546C= (n.4546C=) c.3985G= (p.Ala1329=) c.1427G= c.1178-15G= n.237-15G= c.4063G= (p.Ala1355=) c.4009G= (p.Ala1337=) c.3984-15G= (n.3984-15G=) c.3655G= (p.Ala1219=) c.2344G= (p.Ala782=) | |
1 | g.11788228G>T | CA338470198 | C1orf167,MTHFR | c.3427G>T (p.Ala1143Ser) c.3928G>T (p.Ala1310Ser) c.*2452C>A (n.*2452C>A) c.2063G>T c.4546C>A (n.4546C>A) c.3985G>T (p.Ala1329Ser) c.1427G>T c.1178-15G>T n.237-15G>T c.4063G>T (p.Ala1355Ser) c.4009G>T (p.Ala1337Ser) c.3984-15G>T (n.3984-15G>T) c.3655G>T (p.Ala1219Ser) c.2344G>T (p.Ala782Ser) | |
1 | g.11788229C>A | CA338470199 | C1orf167,MTHFR | c.3428C>A (p.Ala1143Asp) c.3929C>A (p.Ala1310Asp) c.*2451G>T (n.*2451G>T) c.2064C>A c.4545G>T (n.4545G>T) c.3986C>A (p.Ala1329Asp) c.1428C>A c.1178-14C>A n.237-14C>A c.4064C>A (p.Ala1355Asp) c.4010C>A (p.Ala1337Asp) c.3984-14C>A (n.3984-14C>A) c.3656C>A (p.Ala1219Asp) c.2345C>A (p.Ala782Asp) | gnomAD v4 |
1 | g.11788229C= | CA1153787062 | C1orf167,MTHFR | c.3428C= (p.Ala1143=) c.3929C= (p.Ala1310=) c.*2451G= (n.*2451G=) c.2064C= c.4545G= (n.4545G=) c.3986C= (p.Ala1329=) c.1428C= c.1178-14C= n.237-14C= c.4064C= (p.Ala1355=) c.4010C= (p.Ala1337=) c.3984-14C= (n.3984-14C=) c.3656C= (p.Ala1219=) c.2345C= (p.Ala782=) | |
1 | g.11788229C>G | CA338470200 | C1orf167,MTHFR | c.3428C>G (p.Ala1143Gly) c.3929C>G (p.Ala1310Gly) c.*2451G>C (n.*2451G>C) c.2064C>G c.4545G>C (n.4545G>C) c.3986C>G (p.Ala1329Gly) c.1428C>G c.1178-14C>G n.237-14C>G c.4064C>G (p.Ala1355Gly) c.4010C>G (p.Ala1337Gly) c.3984-14C>G (n.3984-14C>G) c.3656C>G (p.Ala1219Gly) c.2345C>G (p.Ala782Gly) | |
1 | g.11788229C>T | CA338470201 | C1orf167,MTHFR | c.3428C>T (p.Ala1143Val) c.3929C>T (p.Ala1310Val) c.*2451G>A (n.*2451G>A) c.2064C>T c.4545G>A (n.4545G>A) c.3986C>T (p.Ala1329Val) c.1428C>T c.1178-14C>T n.237-14C>T c.4064C>T (p.Ala1355Val) c.4010C>T (p.Ala1337Val) c.3984-14C>T (n.3984-14C>T) c.3656C>T (p.Ala1219Val) c.2345C>T (p.Ala782Val) | dbSNP gnomAD v2 |
1 | g.11788230T>A | CA416361754 | C1orf167,MTHFR | c.3429T>A (p.Ala1143=) c.3930T>A (p.Ala1310=) c.*2450A>T (n.*2450A>T) c.2065T>A c.4544A>T (n.4544A>T) c.3987T>A (p.Ala1329=) c.1429T>A c.1178-13T>A n.237-13T>A c.4065T>A (p.Ala1355=) c.4011T>A (p.Ala1337=) c.3984-13T>A (n.3984-13T>A) c.3657T>A (p.Ala1219=) c.2346T>A (p.Ala782=) | |
1 | g.11788230T>C | CA416361755 | C1orf167,MTHFR | c.3429T>C (p.Ala1143=) c.3930T>C (p.Ala1310=) c.*2450A>G (n.*2450A>G) c.2065T>C c.4544A>G (n.4544A>G) c.3987T>C (p.Ala1329=) c.1429T>C c.1178-13T>C n.237-13T>C c.4065T>C (p.Ala1355=) c.4011T>C (p.Ala1337=) c.3984-13T>C (n.3984-13T>C) c.3657T>C (p.Ala1219=) c.2346T>C (p.Ala782=) | |
1 | g.11788230T>G | CA416361756 | C1orf167,MTHFR | c.3429T>G (p.Ala1143=) c.3930T>G (p.Ala1310=) c.*2450A>C (n.*2450A>C) c.2065T>G c.4544A>C (n.4544A>C) c.3987T>G (p.Ala1329=) c.1429T>G c.1178-13T>G n.237-13T>G c.4065T>G (p.Ala1355=) c.4011T>G (p.Ala1337=) c.3984-13T>G (n.3984-13T>G) c.3657T>G (p.Ala1219=) c.2346T>G (p.Ala782=) | |
1 | g.11788231C>A | CA338470202 | C1orf167,MTHFR | c.3430C>A (p.Leu1144Ile) c.3931C>A (p.Leu1311Ile) c.*2449G>T (n.*2449G>T) c.2066C>A c.4543G>T (n.4543G>T) c.3988C>A (p.Leu1330Ile) c.1430C>A c.1178-12C>A n.237-12C>A c.4066C>A (p.Leu1356Ile) c.4012C>A (p.Leu1338Ile) c.3984-12C>A (n.3984-12C>A) c.3658C>A (p.Leu1220Ile) c.2347C>A (p.Leu783Ile) | |
1 | g.11788231C>G | CA338470204 | C1orf167,MTHFR | c.3430C>G (p.Leu1144Val) c.3931C>G (p.Leu1311Val) c.*2449G>C (n.*2449G>C) c.2066C>G c.4543G>C (n.4543G>C) c.3988C>G (p.Leu1330Val) c.1430C>G c.1178-12C>G n.237-12C>G c.4066C>G (p.Leu1356Val) c.4012C>G (p.Leu1338Val) c.3984-12C>G (n.3984-12C>G) c.3658C>G (p.Leu1220Val) c.2347C>G (p.Leu783Val) | |
1 | g.11788231C>T | CA338470203 | C1orf167,MTHFR | c.3430C>T (p.Leu1144Phe) c.3931C>T (p.Leu1311Phe) c.*2449G>A (n.*2449G>A) c.2066C>T c.4543G>A (n.4543G>A) c.3988C>T (p.Leu1330Phe) c.1430C>T c.1178-12C>T n.237-12C>T c.4066C>T (p.Leu1356Phe) c.4012C>T (p.Leu1338Phe) c.3984-12C>T (n.3984-12C>T) c.3658C>T (p.Leu1220Phe) c.2347C>T (p.Leu783Phe) | |
1 | g.11788232T>A | CA338470205 | C1orf167,MTHFR | c.3431T>A (p.Leu1144His) c.3932T>A (p.Leu1311His) c.*2448A>T (n.*2448A>T) c.2067T>A c.4542A>T (n.4542A>T) c.3989T>A (p.Leu1330His) c.1431T>A c.1178-11T>A n.237-11T>A c.4067T>A (p.Leu1356His) c.4013T>A (p.Leu1338His) c.3984-11T>A (n.3984-11T>A) c.3659T>A (p.Leu1220His) c.2348T>A (p.Leu783His) | |
1 | g.11788232T>C | CA338470206 | C1orf167,MTHFR | c.3431T>C (p.Leu1144Pro) c.3932T>C (p.Leu1311Pro) c.*2448A>G (n.*2448A>G) c.2067T>C c.4542A>G (n.4542A>G) c.3989T>C (p.Leu1330Pro) c.1431T>C c.1178-11T>C n.237-11T>C c.4067T>C (p.Leu1356Pro) c.4013T>C (p.Leu1338Pro) c.3984-11T>C (n.3984-11T>C) c.3659T>C (p.Leu1220Pro) c.2348T>C (p.Leu783Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11788232T>G | CA338470207 | C1orf167,MTHFR | c.3431T>G (p.Leu1144Arg) c.3932T>G (p.Leu1311Arg) c.*2448A>C (n.*2448A>C) c.2067T>G c.4542A>C (n.4542A>C) c.3989T>G (p.Leu1330Arg) c.1431T>G c.1178-11T>G n.237-11T>G c.4067T>G (p.Leu1356Arg) c.4013T>G (p.Leu1338Arg) c.3984-11T>G (n.3984-11T>G) c.3659T>G (p.Leu1220Arg) c.2348T>G (p.Leu783Arg) | |
1 | g.11788232T= | CA1153787068 | C1orf167,MTHFR | c.3431T= (p.Leu1144=) c.3932T= (p.Leu1311=) c.*2448A= (n.*2448A=) c.2067T= c.4542A= (n.4542A=) c.3989T= (p.Leu1330=) c.1431T= c.1178-11T= n.237-11T= c.4067T= (p.Leu1356=) c.4013T= (p.Leu1338=) c.3984-11T= (n.3984-11T=) c.3659T= (p.Leu1220=) c.2348T= (p.Leu783=) | |
1 | g.11788233T>A | CA416361757 | C1orf167,MTHFR | c.3432T>A (p.Leu1144=) c.3933T>A (p.Leu1311=) c.*2447A>T (n.*2447A>T) c.2068T>A c.4541A>T (n.4541A>T) c.3990T>A (p.Leu1330=) c.1432T>A c.1178-10T>A n.237-10T>A c.4068T>A (p.Leu1356=) c.4014T>A (p.Leu1338=) c.3984-10T>A (n.3984-10T>A) c.3660T>A (p.Leu1220=) c.2349T>A (p.Leu783=) | |
1 | g.11788233T>C | CA416361758 | C1orf167,MTHFR | c.3432T>C (p.Leu1144=) c.3933T>C (p.Leu1311=) c.*2447A>G (n.*2447A>G) c.2068T>C c.4541A>G (n.4541A>G) c.3990T>C (p.Leu1330=) c.1432T>C c.1178-10T>C n.237-10T>C c.4068T>C (p.Leu1356=) c.4014T>C (p.Leu1338=) c.3984-10T>C (n.3984-10T>C) c.3660T>C (p.Leu1220=) c.2349T>C (p.Leu783=) | gnomAD v4 |
1 | g.11788233T>G | CA416361759 | C1orf167,MTHFR | c.3432T>G (p.Leu1144=) c.3933T>G (p.Leu1311=) c.*2447A>C (n.*2447A>C) c.2068T>G c.4541A>C (n.4541A>C) c.3990T>G (p.Leu1330=) c.1432T>G c.1178-10T>G n.237-10T>G c.4068T>G (p.Leu1356=) c.4014T>G (p.Leu1338=) c.3984-10T>G (n.3984-10T>G) c.3660T>G (p.Leu1220=) c.2349T>G (p.Leu783=) | |
1 | g.11788234G>A | CA338470208 | C1orf167,MTHFR | c.3433G>A (p.Gly1145Ser) c.3934G>A (p.Gly1312Ser) c.*2446C>T (n.*2446C>T) c.2069G>A c.4540C>T (n.4540C>T) c.3991G>A (p.Gly1331Ser) c.1433G>A c.1178-9G>A n.237-9G>A c.4069G>A (p.Gly1357Ser) c.4015G>A (p.Gly1339Ser) c.3984-9G>A (n.3984-9G>A) c.3661G>A (p.Gly1221Ser) c.2350G>A (p.Gly784Ser) | |
1 | g.11788234G>C | CA338470209 | C1orf167,MTHFR | c.3433G>C (p.Gly1145Arg) c.3934G>C (p.Gly1312Arg) c.*2446C>G (n.*2446C>G) c.2069G>C c.4540C>G (n.4540C>G) c.3991G>C (p.Gly1331Arg) c.1433G>C c.1178-9G>C n.237-9G>C c.4069G>C (p.Gly1357Arg) c.4015G>C (p.Gly1339Arg) c.3984-9G>C (n.3984-9G>C) c.3661G>C (p.Gly1221Arg) c.2350G>C (p.Gly784Arg) | |
1 | g.11788234G>T | CA338470210 | C1orf167,MTHFR | c.3433G>T (p.Gly1145Cys) c.3934G>T (p.Gly1312Cys) c.*2446C>A (n.*2446C>A) c.2069G>T c.4540C>A (n.4540C>A) c.3991G>T (p.Gly1331Cys) c.1433G>T c.1178-9G>T n.237-9G>T c.4069G>T (p.Gly1357Cys) c.4015G>T (p.Gly1339Cys) c.3984-9G>T (n.3984-9G>T) c.3661G>T (p.Gly1221Cys) c.2350G>T (p.Gly784Cys) | |
1 | g.11788235G>A | CA17996242 | C1orf167,MTHFR | c.3434G>A (p.Gly1145Asp) c.3935G>A (p.Gly1312Asp) c.*2445C>T (n.*2445C>T) c.2070G>A c.4539C>T (n.4539C>T) c.3992G>A (p.Gly1331Asp) c.1434G>A c.1178-8G>A n.237-8G>A c.4070G>A (p.Gly1357Asp) c.4016G>A (p.Gly1339Asp) c.3984-8G>A (n.3984-8G>A) c.3662G>A (p.Gly1221Asp) c.2351G>A (p.Gly784Asp) | dbSNP |
1 | g.11788235G>C | CA338470211 | C1orf167,MTHFR | c.3434G>C (p.Gly1145Ala) c.3935G>C (p.Gly1312Ala) c.*2445C>G (n.*2445C>G) c.2070G>C c.4539C>G (n.4539C>G) c.3992G>C (p.Gly1331Ala) c.1434G>C c.1178-8G>C n.237-8G>C c.4070G>C (p.Gly1357Ala) c.4016G>C (p.Gly1339Ala) c.3984-8G>C (n.3984-8G>C) c.3662G>C (p.Gly1221Ala) c.2351G>C (p.Gly784Ala) | |
1 | g.11788235G= | CA1153787119 | C1orf167,MTHFR | c.3434G= (p.Gly1145=) c.3935G= (p.Gly1312=) c.*2445C= (n.*2445C=) c.2070G= c.4539C= (n.4539C=) c.3992G= (p.Gly1331=) c.1434G= c.1178-8G= n.237-8G= c.4070G= (p.Gly1357=) c.4016G= (p.Gly1339=) c.3984-8G= (n.3984-8G=) c.3662G= (p.Gly1221=) c.2351G= (p.Gly784=) | |
1 | g.11788235G>T | CA338470212 | C1orf167,MTHFR | c.3434G>T (p.Gly1145Val) c.3935G>T (p.Gly1312Val) c.*2445C>A (n.*2445C>A) c.2070G>T c.4539C>A (n.4539C>A) c.3992G>T (p.Gly1331Val) c.1434G>T c.1178-8G>T n.237-8G>T c.4070G>T (p.Gly1357Val) c.4016G>T (p.Gly1339Val) c.3984-8G>T (n.3984-8G>T) c.3662G>T (p.Gly1221Val) c.2351G>T (p.Gly784Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788236C>A | CA416361762 | C1orf167,MTHFR | c.3435C>A (p.Gly1145=) c.3936C>A (p.Gly1312=) c.*2444G>T (n.*2444G>T) c.2071C>A c.4538G>T (n.4538G>T) c.3993C>A (p.Gly1331=) c.1435C>A c.1178-7C>A n.237-7C>A c.4071C>A (p.Gly1357=) c.4017C>A (p.Gly1339=) c.3984-7C>A (n.3984-7C>A) c.3663C>A (p.Gly1221=) c.2352C>A (p.Gly784=) | |
1 | g.11788236C= | CA1146363382 | C1orf167,MTHFR | c.3435C= (p.Gly1145=) c.3936C= (p.Gly1312=) c.*2444G= (n.*2444G=) c.2071C= c.4538G= (n.4538G=) c.3993C= (p.Gly1331=) c.1435C= c.1178-7C= n.237-7C= c.4071C= (p.Gly1357=) c.4017C= (p.Gly1339=) c.3984-7C= (n.3984-7C=) c.3663C= (p.Gly1221=) c.2352C= (p.Gly784=) | |
1 | g.11788236C>G | CA595081 | C1orf167,MTHFR | c.3435C>G (p.Gly1145=) c.3936C>G (p.Gly1312=) c.*2444G>C (n.*2444G>C) c.2071C>G c.4538G>C (n.4538G>C) c.3993C>G (p.Gly1331=) c.1435C>G c.1178-7C>G n.237-7C>G c.4071C>G (p.Gly1357=) c.4017C>G (p.Gly1339=) c.3984-7C>G (n.3984-7C>G) c.3663C>G (p.Gly1221=) c.2352C>G (p.Gly784=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788236C>T | CA416361763 | C1orf167,MTHFR | c.3435C>T (p.Gly1145=) c.3936C>T (p.Gly1312=) c.*2444G>A (n.*2444G>A) c.2071C>T c.4538G>A (n.4538G>A) c.3993C>T (p.Gly1331=) c.1435C>T c.1178-7C>T n.237-7C>T c.4071C>T (p.Gly1357=) c.4017C>T (p.Gly1339=) c.3984-7C>T (n.3984-7C>T) c.3663C>T (p.Gly1221=) c.2352C>T (p.Gly784=) | gnomAD v4 |
1 | g.11788237C>A | CA338470215 | C1orf167,MTHFR | c.3436C>A (p.His1146Asn) c.3937C>A (p.His1313Asn) c.*2443G>T (n.*2443G>T) c.2072C>A c.4537G>T (n.4537G>T) c.3994C>A (p.His1332Asn) c.1436C>A c.1178-6C>A n.237-6C>A c.4072C>A (p.His1358Asn) c.4018C>A (p.His1340Asn) c.3984-6C>A (n.3984-6C>A) c.3664C>A (p.His1222Asn) c.2353C>A (p.His785Asn) | gnomAD v4 |
1 | g.11788237C>G | CA338470214 | C1orf167,MTHFR | c.3436C>G (p.His1146Asp) c.3937C>G (p.His1313Asp) c.*2443G>C (n.*2443G>C) c.2072C>G c.4537G>C (n.4537G>C) c.3994C>G (p.His1332Asp) c.1436C>G c.1178-6C>G n.237-6C>G c.4072C>G (p.His1358Asp) c.4018C>G (p.His1340Asp) c.3984-6C>G (n.3984-6C>G) c.3664C>G (p.His1222Asp) c.2353C>G (p.His785Asp) | |
1 | g.11788237C>T | CA338470213 | C1orf167,MTHFR | c.3436C>T (p.His1146Tyr) c.3937C>T (p.His1313Tyr) c.*2443G>A (n.*2443G>A) c.2072C>T c.4537G>A (n.4537G>A) c.3994C>T (p.His1332Tyr) c.1436C>T c.1178-6C>T n.237-6C>T c.4072C>T (p.His1358Tyr) c.4018C>T (p.His1340Tyr) c.3984-6C>T (n.3984-6C>T) c.3664C>T (p.His1222Tyr) c.2353C>T (p.His785Tyr) | |
1 | g.11788238A= | CA1153787128 | C1orf167,MTHFR | c.3437A= (p.His1146=) c.3938A= (p.His1313=) c.*2442T= (n.*2442T=) c.2073A= c.4536T= (n.4536T=) c.3995A= (p.His1332=) c.1437A= c.1178-5A= n.237-5A= c.4073A= (p.His1358=) c.4019A= (p.His1340=) c.3984-5A= (n.3984-5A=) c.3665A= (p.His1222=) c.2354A= (p.His785=) | |
1 | g.11788238A>C | CA338470216 | C1orf167,MTHFR | c.3437A>C (p.His1146Pro) c.3938A>C (p.His1313Pro) c.*2442T>G (n.*2442T>G) c.2073A>C c.4536T>G (n.4536T>G) c.3995A>C (p.His1332Pro) c.1437A>C c.1178-5A>C n.237-5A>C c.4073A>C (p.His1358Pro) c.4019A>C (p.His1340Pro) c.3984-5A>C (n.3984-5A>C) c.3665A>C (p.His1222Pro) c.2354A>C (p.His785Pro) | |
1 | g.11788238A>G | CA338470218 | C1orf167,MTHFR | c.3437A>G (p.His1146Arg) c.3938A>G (p.His1313Arg) c.*2442T>C (n.*2442T>C) c.2073A>G c.4536T>C (n.4536T>C) c.3995A>G (p.His1332Arg) c.1437A>G c.1178-5A>G n.237-5A>G c.4073A>G (p.His1358Arg) c.4019A>G (p.His1340Arg) c.3984-5A>G (n.3984-5A>G) c.3665A>G (p.His1222Arg) c.2354A>G (p.His785Arg) | |
1 | g.11788238A>T | CA338470217 | C1orf167,MTHFR | c.3437A>T (p.His1146Leu) c.3938A>T (p.His1313Leu) c.*2442T>A (n.*2442T>A) c.2073A>T c.4536T>A (n.4536T>A) c.3995A>T (p.His1332Leu) c.1437A>T c.1178-5A>T n.237-5A>T c.4073A>T (p.His1358Leu) c.4019A>T (p.His1340Leu) c.3984-5A>T (n.3984-5A>T) c.3665A>T (p.His1222Leu) c.2354A>T (p.His785Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788239T>A | CA338470219 | C1orf167,MTHFR | c.3438T>A (p.His1146Gln) c.3939T>A (p.His1313Gln) c.*2441A>T (n.*2441A>T) c.2074T>A c.4535A>T (n.4535A>T) c.3996T>A (p.His1332Gln) c.1438T>A c.1178-4T>A n.237-4T>A c.4074T>A (p.His1358Gln) c.4020T>A (p.His1340Gln) c.3984-4T>A (n.3984-4T>A) c.3666T>A (p.His1222Gln) c.2355T>A (p.His785Gln) | |
1 | g.11788239T>C | CA416361767 | C1orf167,MTHFR | c.3438T>C (p.His1146=) c.3939T>C (p.His1313=) c.*2441A>G (n.*2441A>G) c.2074T>C c.4535A>G (n.4535A>G) c.3996T>C (p.His1332=) c.1438T>C c.1178-4T>C n.237-4T>C c.4074T>C (p.His1358=) c.4020T>C (p.His1340=) c.3984-4T>C (n.3984-4T>C) c.3666T>C (p.His1222=) c.2355T>C (p.His785=) | |
1 | g.11788239T>G | CA338470220 | C1orf167,MTHFR | c.3438T>G (p.His1146Gln) c.3939T>G (p.His1313Gln) c.*2441A>C (n.*2441A>C) c.2074T>G c.4535A>C (n.4535A>C) c.3996T>G (p.His1332Gln) c.1438T>G c.1178-4T>G n.237-4T>G c.4074T>G (p.His1358Gln) c.4020T>G (p.His1340Gln) c.3984-4T>G (n.3984-4T>G) c.3666T>G (p.His1222Gln) c.2355T>G (p.His785Gln) | dbSNP |
1 | g.11788239T= | CA1153787134 | C1orf167,MTHFR | c.3438T= (p.His1146=) c.3939T= (p.His1313=) c.*2441A= (n.*2441A=) c.2074T= c.4535A= (n.4535A=) c.3996T= (p.His1332=) c.1438T= c.1178-4T= n.237-4T= c.4074T= (p.His1358=) c.4020T= (p.His1340=) c.3984-4T= (n.3984-4T=) c.3666T= (p.His1222=) c.2355T= (p.His785=) | |
1 | g.11788240C>A | CA338470221 | C1orf167,MTHFR | c.3439C>A (p.Gln1147Lys) c.3940C>A (p.Gln1314Lys) c.*2440G>T (n.*2440G>T) c.2075C>A c.4534G>T (n.4534G>T) c.3997C>A (p.Gln1333Lys) c.1439C>A c.1178-3C>A n.237-3C>A c.4075C>A (p.Gln1359Lys) c.4021C>A (p.Gln1341Lys) c.3984-3C>A (n.3984-3C>A) c.3667C>A (p.Gln1223Lys) c.2356C>A (p.Gln786Lys) | |
1 | g.11788240C>G | CA338470222 | C1orf167,MTHFR | c.3439C>G (p.Gln1147Glu) c.3940C>G (p.Gln1314Glu) c.*2440G>C (n.*2440G>C) c.2075C>G c.4534G>C (n.4534G>C) c.3997C>G (p.Gln1333Glu) c.1439C>G c.1178-3C>G n.237-3C>G c.4075C>G (p.Gln1359Glu) c.4021C>G (p.Gln1341Glu) c.3984-3C>G (n.3984-3C>G) c.3667C>G (p.Gln1223Glu) c.2356C>G (p.Gln786Glu) | |
1 | g.11788240C>T | CA338470223 | C1orf167,MTHFR | c.3439C>T (p.Gln1147Ter) c.3940C>T (p.Gln1314Ter) c.*2440G>A (n.*2440G>A) c.2075C>T c.4534G>A (n.4534G>A) c.3997C>T (p.Gln1333Ter) c.1439C>T c.1178-3C>T n.237-3C>T c.4075C>T (p.Gln1359Ter) c.4021C>T (p.Gln1341Ter) c.3984-3C>T (n.3984-3C>T) c.3667C>T (p.Gln1223Ter) c.2356C>T (p.Gln786Ter) | |
1 | g.11788241A>C | CA338470224 | C1orf167,MTHFR | c.3440A>C (p.Gln1147Pro) c.3941A>C (p.Gln1314Pro) c.*2439T>G (n.*2439T>G) c.2076A>C c.4533T>G (n.4533T>G) c.3998A>C (p.Gln1333Pro) c.1440A>C c.1178-2A>C n.237-2A>C c.4076A>C (p.Gln1359Pro) c.4022A>C (p.Gln1341Pro) c.3984-2A>C (n.3984-2A>C) c.3668A>C (p.Gln1223Pro) c.2357A>C (p.Gln786Pro) | |
1 | g.11788241A>G | CA338470225 | C1orf167,MTHFR | c.3440A>G (p.Gln1147Arg) c.3941A>G (p.Gln1314Arg) c.*2439T>C (n.*2439T>C) c.2076A>G c.4533T>C (n.4533T>C) c.3998A>G (p.Gln1333Arg) c.1440A>G c.1178-2A>G n.237-2A>G c.4076A>G (p.Gln1359Arg) c.4022A>G (p.Gln1341Arg) c.3984-2A>G (n.3984-2A>G) c.3668A>G (p.Gln1223Arg) c.2357A>G (p.Gln786Arg) | |
1 | g.11788241A>T | CA338470226 | C1orf167,MTHFR | c.3440A>T (p.Gln1147Leu) c.3941A>T (p.Gln1314Leu) c.*2439T>A (n.*2439T>A) c.2076A>T c.4533T>A (n.4533T>A) c.3998A>T (p.Gln1333Leu) c.1440A>T c.1178-2A>T n.237-2A>T c.4076A>T (p.Gln1359Leu) c.4022A>T (p.Gln1341Leu) c.3984-2A>T (n.3984-2A>T) c.3668A>T (p.Gln1223Leu) c.2357A>T (p.Gln786Leu) | |
1 | g.11788242G>A | CA416361768 | C1orf167,MTHFR | c.3441G>A (p.Gln1147=) c.3942G>A (p.Gln1314=) c.*2438C>T (n.*2438C>T) c.2077G>A c.4532C>T (n.4532C>T) c.3999G>A (p.Gln1333=) c.1441G>A c.1178-1G>A n.237-1G>A c.4077G>A (p.Gln1359=) c.4023G>A (p.Gln1341=) c.3984-1G>A (n.3984-1G>A) c.3669G>A (p.Gln1223=) c.2358G>A (p.Gln786=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788242G>C | CA338470227 | C1orf167,MTHFR | c.3441G>C (p.Gln1147His) c.3942G>C (p.Gln1314His) c.*2438C>G (n.*2438C>G) c.2077G>C c.4532C>G (n.4532C>G) c.3999G>C (p.Gln1333His) c.1441G>C c.1178-1G>C n.237-1G>C c.4077G>C (p.Gln1359His) c.4023G>C (p.Gln1341His) c.3984-1G>C (n.3984-1G>C) c.3669G>C (p.Gln1223His) c.2358G>C (p.Gln786His) | |
1 | g.11788242G= | CA1153787139 | C1orf167,MTHFR | c.3441G= (p.Gln1147=) c.3942G= (p.Gln1314=) c.*2438C= (n.*2438C=) c.2077G= c.4532C= (n.4532C=) c.3999G= (p.Gln1333=) c.1441G= c.1178-1G= n.237-1G= c.4077G= (p.Gln1359=) c.4023G= (p.Gln1341=) c.3984-1G= (n.3984-1G=) c.3669G= (p.Gln1223=) c.2358G= (p.Gln786=) | |
1 | g.11788242G>T | CA338470228 | C1orf167,MTHFR | c.3441G>T (p.Gln1147His) c.3942G>T (p.Gln1314His) c.*2438C>A (n.*2438C>A) c.2077G>T c.4532C>A (n.4532C>A) c.3999G>T (p.Gln1333His) c.1441G>T c.1178-1G>T n.237-1G>T c.4077G>T (p.Gln1359His) c.4023G>T (p.Gln1341His) c.3984-1G>T (n.3984-1G>T) c.3669G>T (p.Gln1223His) c.2358G>T (p.Gln786His) | gnomAD v4 |
1 | g.11788243G>A | CA338470229 | C1orf167,MTHFR | c.3442G>A (p.Glu1148Lys) c.3943G>A (p.Glu1315Lys) c.*2437C>T (n.*2437C>T) c.2078G>A c.4531C>T (n.4531C>T) c.4000G>A (p.Glu1334Lys) c.1442G>A c.1178G>A n.237G>A c.4078G>A (p.Glu1360Lys) c.4024G>A (p.Glu1342Lys) c.3984G>A (p.Arg1328=) c.3670G>A (p.Glu1224Lys) c.2359G>A (p.Glu787Lys) | |
1 | g.11788243G>C | CA338470230 | C1orf167,MTHFR | c.3442G>C (p.Glu1148Gln) c.3943G>C (p.Glu1315Gln) c.*2437C>G (n.*2437C>G) c.2078G>C c.4531C>G (n.4531C>G) c.4000G>C (p.Glu1334Gln) c.1442G>C c.1178G>C n.237G>C c.4078G>C (p.Glu1360Gln) c.4024G>C (p.Glu1342Gln) c.3984G>C (p.Arg1328=) c.3670G>C (p.Glu1224Gln) c.2359G>C (p.Glu787Gln) | |
1 | g.11788243G>T | CA338470231 | C1orf167,MTHFR | c.3442G>T (p.Glu1148Ter) c.3943G>T (p.Glu1315Ter) c.*2437C>A (n.*2437C>A) c.2078G>T c.4531C>A (n.4531C>A) c.4000G>T (p.Glu1334Ter) c.1442G>T c.1178G>T n.237G>T c.4078G>T (p.Glu1360Ter) c.4024G>T (p.Glu1342Ter) c.3984G>T (p.Arg1328=) c.3670G>T (p.Glu1224Ter) c.2359G>T (p.Glu787Ter) | |
1 | g.11788244A>C | CA338470232 | C1orf167,MTHFR | c.3443A>C (p.Glu1148Ala) c.3944A>C (p.Glu1315Ala) c.*2436T>G (n.*2436T>G) c.2079A>C c.4530T>G (n.4530T>G) c.4001A>C (p.Glu1334Ala) c.1443A>C c.1179A>C n.238A>C c.4079A>C (p.Glu1360Ala) c.4025A>C (p.Glu1342Ala) c.3985A>C (p.Arg1329=) c.3671A>C (p.Glu1224Ala) c.2360A>C (p.Glu787Ala) | |
1 | g.11788244A>G | CA338470234 | C1orf167,MTHFR | c.3443A>G (p.Glu1148Gly) c.3944A>G (p.Glu1315Gly) c.*2436T>C (n.*2436T>C) c.2079A>G c.4530T>C (n.4530T>C) c.4001A>G (p.Glu1334Gly) c.1443A>G c.1179A>G n.238A>G c.4079A>G (p.Glu1360Gly) c.4025A>G (p.Glu1342Gly) c.3985A>G (p.Arg1329Gly) c.3671A>G (p.Glu1224Gly) c.2360A>G (p.Glu787Gly) | |
1 | g.11788244A>T | CA338470233 | C1orf167,MTHFR | c.3443A>T (p.Glu1148Val) c.3944A>T (p.Glu1315Val) c.*2436T>A (n.*2436T>A) c.2079A>T c.4530T>A (n.4530T>A) c.4001A>T (p.Glu1334Val) c.1443A>T c.1179A>T n.238A>T c.4079A>T (p.Glu1360Val) c.4025A>T (p.Glu1342Val) c.3985A>T (p.Arg1329Trp) c.3671A>T (p.Glu1224Val) c.2360A>T (p.Glu787Val) | |
1 | g.11788245G>A | CA416361772 | C1orf167,MTHFR | c.3444G>A (p.Glu1148=) c.3945G>A (p.Glu1315=) c.*2435C>T (n.*2435C>T) c.2080G>A c.4529C>T (n.4529C>T) c.4002G>A (p.Glu1334=) c.1444G>A c.1180G>A n.239G>A c.4080G>A (p.Glu1360=) c.4026G>A (p.Glu1342=) c.3986G>A (p.Arg1329Lys) c.3672G>A (p.Glu1224=) c.2361G>A (p.Glu787=) | gnomAD v4 COSMIC COSMIC |
1 | g.11788245G>C | CA338470235 | C1orf167,MTHFR | c.3444G>C (p.Glu1148Asp) c.3945G>C (p.Glu1315Asp) c.*2435C>G (n.*2435C>G) c.2080G>C c.4529C>G (n.4529C>G) c.4002G>C (p.Glu1334Asp) c.1444G>C c.1180G>C n.239G>C c.4080G>C (p.Glu1360Asp) c.4026G>C (p.Glu1342Asp) c.3986G>C (p.Arg1329Thr) c.3672G>C (p.Glu1224Asp) c.2361G>C (p.Glu787Asp) | |
1 | g.11788245G>T | CA338470236 | C1orf167,MTHFR | c.3444G>T (p.Glu1148Asp) c.3945G>T (p.Glu1315Asp) c.*2435C>A (n.*2435C>A) c.2080G>T c.4529C>A (n.4529C>A) c.4002G>T (p.Glu1334Asp) c.1444G>T c.1180G>T n.239G>T c.4080G>T (p.Glu1360Asp) c.4026G>T (p.Glu1342Asp) c.3986G>T (p.Arg1329Met) c.3672G>T (p.Glu1224Asp) c.2361G>T (p.Glu787Asp) | |
1 | g.11788246G>A | CA338470237 | C1orf167,MTHFR | c.3445G>A (p.Glu1149Lys) c.3946G>A (p.Glu1316Lys) c.*2434C>T (n.*2434C>T) c.2081G>A c.4528C>T (n.4528C>T) c.4003G>A (p.Glu1335Lys) c.1445G>A c.1181G>A n.240G>A c.4081G>A (p.Glu1361Lys) c.4027G>A (p.Glu1343Lys) c.3987G>A (p.Arg1329=) c.3673G>A (p.Glu1225Lys) c.2362G>A (p.Glu788Lys) | |
1 | g.11788246G>C | CA338470238 | C1orf167,MTHFR | c.3445G>C (p.Glu1149Gln) c.3946G>C (p.Glu1316Gln) c.*2434C>G (n.*2434C>G) c.2081G>C c.4528C>G (n.4528C>G) c.4003G>C (p.Glu1335Gln) c.1445G>C c.1181G>C n.240G>C c.4081G>C (p.Glu1361Gln) c.4027G>C (p.Glu1343Gln) c.3987G>C (p.Arg1329Ser) c.3673G>C (p.Glu1225Gln) c.2362G>C (p.Glu788Gln) | |
1 | g.11788246G>T | CA338470239 | C1orf167,MTHFR | c.3445G>T (p.Glu1149Ter) c.3946G>T (p.Glu1316Ter) c.*2434C>A (n.*2434C>A) c.2081G>T c.4528C>A (n.4528C>A) c.4003G>T (p.Glu1335Ter) c.1445G>T c.1181G>T n.240G>T c.4081G>T (p.Glu1361Ter) c.4027G>T (p.Glu1343Ter) c.3987G>T (p.Arg1329Ser) c.3673G>T (p.Glu1225Ter) c.2362G>T (p.Glu788Ter) | |
1 | g.11788247A>C | CA338470240 | C1orf167,MTHFR | c.3446A>C (p.Glu1149Ala) c.3947A>C (p.Glu1316Ala) c.*2433T>G (n.*2433T>G) c.2082A>C c.4527T>G (n.4527T>G) c.4004A>C (p.Glu1335Ala) c.1446A>C c.1182A>C n.241A>C c.4082A>C (p.Glu1361Ala) c.4028A>C (p.Glu1343Ala) c.3988A>C (p.Lys1330Gln) c.3674A>C (p.Glu1225Ala) c.2363A>C (p.Glu788Ala) | |
1 | g.11788247A>G | CA338470241 | C1orf167,MTHFR | c.3446A>G (p.Glu1149Gly) c.3947A>G (p.Glu1316Gly) c.*2433T>C (n.*2433T>C) c.2082A>G c.4527T>C (n.4527T>C) c.4004A>G (p.Glu1335Gly) c.1446A>G c.1182A>G n.241A>G c.4082A>G (p.Glu1361Gly) c.4028A>G (p.Glu1343Gly) c.3988A>G (p.Lys1330Glu) c.3674A>G (p.Glu1225Gly) c.2363A>G (p.Glu788Gly) | |
1 | g.11788247A>T | CA338470242 | C1orf167,MTHFR | c.3446A>T (p.Glu1149Val) c.3947A>T (p.Glu1316Val) c.*2433T>A (n.*2433T>A) c.2082A>T c.4527T>A (n.4527T>A) c.4004A>T (p.Glu1335Val) c.1446A>T c.1182A>T n.241A>T c.4082A>T (p.Glu1361Val) c.4028A>T (p.Glu1343Val) c.3988A>T (p.Lys1330Ter) c.3674A>T (p.Glu1225Val) c.2363A>T (p.Glu788Val) | |
1 | g.11788248del | CA2643295646 | C1orf167,MTHFR | c.3447del (p.Val1150TyrfsTer?) c.3948del (p.Val1317TyrfsTer?) c.*2433del (n.*2433del) c.2083del c.4527del (n.4527del) c.4005del (p.Val1336TyrfsTer?) c.1447del c.1183del n.242del c.4083del (p.Val1362TyrfsTer?) c.4029del (p.Val1344TyrfsTer?) c.3989del (p.Lys1330SerfsTer?) c.3675del (p.Val1226TyrfsTer?) c.2364del (p.Val789TyrfsTer?) | gnomAD v4 |
1 | g.11788248A>C | CA338470243 | C1orf167,MTHFR | c.3447A>C (p.Glu1149Asp) c.3948A>C (p.Glu1316Asp) c.*2432T>G (n.*2432T>G) c.2083A>C c.4526T>G (n.4526T>G) c.4005A>C (p.Glu1335Asp) c.1447A>C c.1183A>C n.242A>C c.4083A>C (p.Glu1361Asp) c.4029A>C (p.Glu1343Asp) c.3989A>C (p.Lys1330Thr) c.3675A>C (p.Glu1225Asp) c.2364A>C (p.Glu788Asp) | |
1 | g.11788248A>G | CA416361776 | C1orf167,MTHFR | c.3447A>G (p.Glu1149=) c.3948A>G (p.Glu1316=) c.*2432T>C (n.*2432T>C) c.2083A>G c.4526T>C (n.4526T>C) c.4005A>G (p.Glu1335=) c.1447A>G c.1183A>G n.242A>G c.4083A>G (p.Glu1361=) c.4029A>G (p.Glu1343=) c.3989A>G (p.Lys1330Arg) c.3675A>G (p.Glu1225=) c.2364A>G (p.Glu788=) | gnomAD v4 |
1 | g.11788248A>T | CA338470244 | C1orf167,MTHFR | c.3447A>T (p.Glu1149Asp) c.3948A>T (p.Glu1316Asp) c.*2432T>A (n.*2432T>A) c.2083A>T c.4526T>A (n.4526T>A) c.4005A>T (p.Glu1335Asp) c.1447A>T c.1183A>T n.242A>T c.4083A>T (p.Glu1361Asp) c.4029A>T (p.Glu1343Asp) c.3989A>T (p.Lys1330Met) c.3675A>T (p.Glu1225Asp) c.2364A>T (p.Glu788Asp) | |
1 | g.11788249G>A | CA338470247 | C1orf167,MTHFR | c.3448G>A (p.Val1150Ile) c.3949G>A (p.Val1317Ile) c.*2431C>T (n.*2431C>T) c.2084G>A c.4525C>T (n.4525C>T) c.4006G>A (p.Val1336Ile) c.1448G>A c.1184G>A n.243G>A c.4084G>A (p.Val1362Ile) c.4030G>A (p.Val1344Ile) c.3990G>A (p.Lys1330=) c.3676G>A (p.Val1226Ile) c.2365G>A (p.Val789Ile) | |
1 | g.11788249G>C | CA338470246 | C1orf167,MTHFR | c.3448G>C (p.Val1150Leu) c.3949G>C (p.Val1317Leu) c.*2431C>G (n.*2431C>G) c.2084G>C c.4525C>G (n.4525C>G) c.4006G>C (p.Val1336Leu) c.1448G>C c.1184G>C n.243G>C c.4084G>C (p.Val1362Leu) c.4030G>C (p.Val1344Leu) c.3990G>C (p.Lys1330Asn) c.3676G>C (p.Val1226Leu) c.2365G>C (p.Val789Leu) | |
1 | g.11788249G= | CA1153787142 | C1orf167,MTHFR | c.3448G= (p.Val1150=) c.3949G= (p.Val1317=) c.*2431C= (n.*2431C=) c.2084G= c.4525C= (n.4525C=) c.4006G= (p.Val1336=) c.1448G= c.1184G= n.243G= c.4084G= (p.Val1362=) c.4030G= (p.Val1344=) c.3990G= (p.Lys1330=) c.3676G= (p.Val1226=) c.2365G= (p.Val789=) | |
1 | g.11788249G>T | CA338470245 | C1orf167,MTHFR | c.3448G>T (p.Val1150Leu) c.3949G>T (p.Val1317Leu) c.*2431C>A (n.*2431C>A) c.2084G>T c.4525C>A (n.4525C>A) c.4006G>T (p.Val1336Leu) c.1448G>T c.1184G>T n.243G>T c.4084G>T (p.Val1362Leu) c.4030G>T (p.Val1344Leu) c.3990G>T (p.Lys1330Asn) c.3676G>T (p.Val1226Leu) c.2365G>T (p.Val789Leu) | dbSNP gnomAD v2 |
1 | g.11788250T>A | CA338470250 | C1orf167,MTHFR | c.3449T>A (p.Val1150Glu) c.3950T>A (p.Val1317Glu) c.*2430A>T (n.*2430A>T) c.2085T>A c.4524A>T (n.4524A>T) c.4007T>A (p.Val1336Glu) c.1449T>A c.1185T>A n.244T>A c.4085T>A (p.Val1362Glu) c.4031T>A (p.Val1344Glu) c.3991T>A (p.Tyr1331Asn) c.3677T>A (p.Val1226Glu) c.2366T>A (p.Val789Glu) | |
1 | g.11788250T>C | CA338470248 | C1orf167,MTHFR | c.3449T>C (p.Val1150Ala) c.3950T>C (p.Val1317Ala) c.*2430A>G (n.*2430A>G) c.2085T>C c.4524A>G (n.4524A>G) c.4007T>C (p.Val1336Ala) c.1449T>C c.1185T>C n.244T>C c.4085T>C (p.Val1362Ala) c.4031T>C (p.Val1344Ala) c.3991T>C (p.Tyr1331His) c.3677T>C (p.Val1226Ala) c.2366T>C (p.Val789Ala) | gnomAD v4 |
1 | g.11788250T>G | CA338470249 | C1orf167,MTHFR | c.3449T>G (p.Val1150Gly) c.3950T>G (p.Val1317Gly) c.*2430A>C (n.*2430A>C) c.2085T>G c.4524A>C (n.4524A>C) c.4007T>G (p.Val1336Gly) c.1449T>G c.1185T>G n.244T>G c.4085T>G (p.Val1362Gly) c.4031T>G (p.Val1344Gly) c.3991T>G (p.Tyr1331Asp) c.3677T>G (p.Val1226Gly) c.2366T>G (p.Val789Gly) | |
1 | g.11788251A>C | CA416361777 | C1orf167,MTHFR | c.3450A>C (p.Val1150=) c.3951A>C (p.Val1317=) c.*2429T>G (n.*2429T>G) c.2086A>C c.4523T>G (n.4523T>G) c.4008A>C (p.Val1336=) c.1450A>C c.1186A>C n.245A>C c.4086A>C (p.Val1362=) c.4032A>C (p.Val1344=) c.3992A>C (p.Tyr1331Ser) c.3678A>C (p.Val1226=) c.2367A>C (p.Val789=) | |
1 | g.11788251A>G | CA416361781 | C1orf167,MTHFR | c.3450A>G (p.Val1150=) c.3951A>G (p.Val1317=) c.*2429T>C (n.*2429T>C) c.2086A>G c.4523T>C (n.4523T>C) c.4008A>G (p.Val1336=) c.1450A>G c.1186A>G n.245A>G c.4086A>G (p.Val1362=) c.4032A>G (p.Val1344=) c.3992A>G (p.Tyr1331Cys) c.3678A>G (p.Val1226=) c.2367A>G (p.Val789=) | |
1 | g.11788251A>T | CA416361779 | C1orf167,MTHFR | c.3450A>T (p.Val1150=) c.3951A>T (p.Val1317=) c.*2429T>A (n.*2429T>A) c.2086A>T c.4523T>A (n.4523T>A) c.4008A>T (p.Val1336=) c.1450A>T c.1186A>T n.245A>T c.4086A>T (p.Val1362=) c.4032A>T (p.Val1344=) c.3992A>T (p.Tyr1331Phe) c.3678A>T (p.Val1226=) c.2367A>T (p.Val789=) | |
1 | g.11788252C>A | CA338470251 | C1orf167,MTHFR | c.3451C>A (p.Pro1151Thr) c.3952C>A (p.Pro1318Thr) c.*2428G>T (n.*2428G>T) c.2087C>A c.4522G>T (n.4522G>T) c.4009C>A (p.Pro1337Thr) c.1451C>A c.1187C>A n.246C>A c.4087C>A (p.Pro1363Thr) c.4033C>A (p.Pro1345Thr) c.3993C>A (p.Tyr1331Ter) c.3679C>A (p.Pro1227Thr) c.2368C>A (p.Pro790Thr) | gnomAD v4 |
1 | g.11788252C= | CA1153787146 | C1orf167,MTHFR | c.3451C= (p.Pro1151=) c.3952C= (p.Pro1318=) c.*2428G= (n.*2428G=) c.2087C= c.4522G= (n.4522G=) c.4009C= (p.Pro1337=) c.1451C= c.1187C= n.246C= c.4087C= (p.Pro1363=) c.4033C= (p.Pro1345=) c.3993C= (p.Tyr1331=) c.3679C= (p.Pro1227=) c.2368C= (p.Pro790=) | |
1 | g.11788252C>G | CA338470252 | C1orf167,MTHFR | c.3451C>G (p.Pro1151Ala) c.3952C>G (p.Pro1318Ala) c.*2428G>C (n.*2428G>C) c.2087C>G c.4522G>C (n.4522G>C) c.4009C>G (p.Pro1337Ala) c.1451C>G c.1187C>G n.246C>G c.4087C>G (p.Pro1363Ala) c.4033C>G (p.Pro1345Ala) c.3993C>G (p.Tyr1331Ter) c.3679C>G (p.Pro1227Ala) c.2368C>G (p.Pro790Ala) | |
1 | g.11788252C>T | CA338470253 | C1orf167,MTHFR | c.3451C>T (p.Pro1151Ser) c.3952C>T (p.Pro1318Ser) c.*2428G>A (n.*2428G>A) c.2087C>T c.4522G>A (n.4522G>A) c.4009C>T (p.Pro1337Ser) c.1451C>T c.1187C>T n.246C>T c.4087C>T (p.Pro1363Ser) c.4033C>T (p.Pro1345Ser) c.3993C>T (p.Tyr1331=) c.3679C>T (p.Pro1227Ser) c.2368C>T (p.Pro790Ser) | dbSNP gnomAD v4 |
1 | g.11788253C>A | CA338470256 | C1orf167,MTHFR | c.3452C>A (p.Pro1151His) c.3953C>A (p.Pro1318His) c.*2427G>T (n.*2427G>T) c.2088C>A c.4521G>T (n.4521G>T) c.4010C>A (p.Pro1337His) c.1452C>A c.1188C>A n.247C>A c.4088C>A (p.Pro1363His) c.4034C>A (p.Pro1345His) c.3994C>A (p.Leu1332Met) c.3680C>A (p.Pro1227His) c.2369C>A (p.Pro790His) | |
1 | g.11788253C>G | CA338470255 | C1orf167,MTHFR | c.3452C>G (p.Pro1151Arg) c.3953C>G (p.Pro1318Arg) c.*2427G>C (n.*2427G>C) c.2088C>G c.4521G>C (n.4521G>C) c.4010C>G (p.Pro1337Arg) c.1452C>G c.1188C>G n.247C>G c.4088C>G (p.Pro1363Arg) c.4034C>G (p.Pro1345Arg) c.3994C>G (p.Leu1332Val) c.3680C>G (p.Pro1227Arg) c.2369C>G (p.Pro790Arg) | gnomAD v4 |
1 | g.11788253C>T | CA338470254 | C1orf167,MTHFR | c.3452C>T (p.Pro1151Leu) c.3953C>T (p.Pro1318Leu) c.*2427G>A (n.*2427G>A) c.2088C>T c.4521G>A (n.4521G>A) c.4010C>T (p.Pro1337Leu) c.1452C>T c.1188C>T n.247C>T c.4088C>T (p.Pro1363Leu) c.4034C>T (p.Pro1345Leu) c.3994C>T (p.Leu1332=) c.3680C>T (p.Pro1227Leu) c.2369C>T (p.Pro790Leu) | |
1 | g.11788254T>A | CA416361785 | C1orf167,MTHFR | c.3453T>A (p.Pro1151=) c.3954T>A (p.Pro1318=) c.*2426A>T (n.*2426A>T) c.2089T>A c.4520A>T (n.4520A>T) c.4011T>A (p.Pro1337=) c.1453T>A c.1189T>A n.248T>A c.4089T>A (p.Pro1363=) c.4035T>A (p.Pro1345=) c.3995T>A (p.Leu1332Gln) c.3681T>A (p.Pro1227=) c.2370T>A (p.Pro790=) | |
1 | g.11788254T>C | CA416361787 | C1orf167,MTHFR | c.3453T>C (p.Pro1151=) c.3954T>C (p.Pro1318=) c.*2426A>G (n.*2426A>G) c.2089T>C c.4520A>G (n.4520A>G) c.4011T>C (p.Pro1337=) c.1453T>C c.1189T>C n.248T>C c.4089T>C (p.Pro1363=) c.4035T>C (p.Pro1345=) c.3995T>C (p.Leu1332Pro) c.3681T>C (p.Pro1227=) c.2370T>C (p.Pro790=) | |
1 | g.11788254T>G | CA416361788 | C1orf167,MTHFR | c.3453T>G (p.Pro1151=) c.3954T>G (p.Pro1318=) c.*2426A>C (n.*2426A>C) c.2089T>G c.4520A>C (n.4520A>C) c.4011T>G (p.Pro1337=) c.1453T>G c.1189T>G n.248T>G c.4089T>G (p.Pro1363=) c.4035T>G (p.Pro1345=) c.3995T>G (p.Leu1332Arg) c.3681T>G (p.Pro1227=) c.2370T>G (p.Pro790=) | |
1 | g.11788255G>A | CA338470257 | C1orf167,MTHFR | c.3454G>A (p.Ala1152Thr) c.3955G>A (p.Ala1319Thr) c.*2425C>T (n.*2425C>T) c.2090G>A c.4519C>T (n.4519C>T) c.4012G>A (p.Ala1338Thr) c.1454G>A c.1190G>A n.249G>A c.4090G>A (p.Ala1364Thr) c.4036G>A (p.Ala1346Thr) c.3996G>A (p.Leu1332=) c.3682G>A (p.Ala1228Thr) c.2371G>A (p.Ala791Thr) | |
1 | g.11788255G>C | CA338470258 | C1orf167,MTHFR | c.3454G>C (p.Ala1152Pro) c.3955G>C (p.Ala1319Pro) c.*2425C>G (n.*2425C>G) c.2090G>C c.4519C>G (n.4519C>G) c.4012G>C (p.Ala1338Pro) c.1454G>C c.1190G>C n.249G>C c.4090G>C (p.Ala1364Pro) c.4036G>C (p.Ala1346Pro) c.3996G>C (p.Leu1332=) c.3682G>C (p.Ala1228Pro) c.2371G>C (p.Ala791Pro) | dbSNP gnomAD v4 |
1 | g.11788255G= | CA1153787149 | C1orf167,MTHFR | c.3454G= (p.Ala1152=) c.3955G= (p.Ala1319=) c.*2425C= (n.*2425C=) c.2090G= c.4519C= (n.4519C=) c.4012G= (p.Ala1338=) c.1454G= c.1190G= n.249G= c.4090G= (p.Ala1364=) c.4036G= (p.Ala1346=) c.3996G= (p.Leu1332=) c.3682G= (p.Ala1228=) c.2371G= (p.Ala791=) | |
1 | g.11788255G>T | CA338470259 | C1orf167,MTHFR | c.3454G>T (p.Ala1152Ser) c.3955G>T (p.Ala1319Ser) c.*2425C>A (n.*2425C>A) c.2090G>T c.4519C>A (n.4519C>A) c.4012G>T (p.Ala1338Ser) c.1454G>T c.1190G>T n.249G>T c.4090G>T (p.Ala1364Ser) c.4036G>T (p.Ala1346Ser) c.3996G>T (p.Leu1332=) c.3682G>T (p.Ala1228Ser) c.2371G>T (p.Ala791Ser) | |
1 | g.11788256C>A | CA338470260 | C1orf167,MTHFR | c.3455C>A (p.Ala1152Glu) c.3956C>A (p.Ala1319Glu) c.*2424G>T (n.*2424G>T) c.2091C>A c.4518G>T (n.4518G>T) c.4013C>A (p.Ala1338Glu) c.1455C>A c.1191C>A n.250C>A c.4091C>A (p.Ala1364Glu) c.4037C>A (p.Ala1346Glu) c.3997C>A (p.Gln1333Lys) c.3683C>A (p.Ala1228Glu) c.2372C>A (p.Ala791Glu) | gnomAD v4 |
1 | g.11788256C>G | CA338470261 | C1orf167,MTHFR | c.3455C>G (p.Ala1152Gly) c.3956C>G (p.Ala1319Gly) c.*2424G>C (n.*2424G>C) c.2091C>G c.4518G>C (n.4518G>C) c.4013C>G (p.Ala1338Gly) c.1455C>G c.1191C>G n.250C>G c.4091C>G (p.Ala1364Gly) c.4037C>G (p.Ala1346Gly) c.3997C>G (p.Gln1333Glu) c.3683C>G (p.Ala1228Gly) c.2372C>G (p.Ala791Gly) | |
1 | g.11788256C>T | CA338470262 | C1orf167,MTHFR | c.3455C>T (p.Ala1152Val) c.3956C>T (p.Ala1319Val) c.*2424G>A (n.*2424G>A) c.2091C>T c.4518G>A (n.4518G>A) c.4013C>T (p.Ala1338Val) c.1455C>T c.1191C>T n.250C>T c.4091C>T (p.Ala1364Val) c.4037C>T (p.Ala1346Val) c.3997C>T (p.Gln1333Ter) c.3683C>T (p.Ala1228Val) c.2372C>T (p.Ala791Val) | |
1 | g.11788257A>C | CA416361789 | C1orf167,MTHFR | c.3456A>C (p.Ala1152=) c.3957A>C (p.Ala1319=) c.*2423T>G (n.*2423T>G) c.2092A>C c.4517T>G (n.4517T>G) c.4014A>C (p.Ala1338=) c.1456A>C c.1192A>C n.251A>C c.4092A>C (p.Ala1364=) c.4038A>C (p.Ala1346=) c.3998A>C (p.Gln1333Pro) c.3684A>C (p.Ala1228=) c.2373A>C (p.Ala791=) | |
1 | g.11788257A>G | CA416361791 | C1orf167,MTHFR | c.3456A>G (p.Ala1152=) c.3957A>G (p.Ala1319=) c.*2423T>C (n.*2423T>C) c.2092A>G c.4517T>C (n.4517T>C) c.4014A>G (p.Ala1338=) c.1456A>G c.1192A>G n.251A>G c.4092A>G (p.Ala1364=) c.4038A>G (p.Ala1346=) c.3998A>G (p.Gln1333Arg) c.3684A>G (p.Ala1228=) c.2373A>G (p.Ala791=) | |
1 | g.11788257A>T | CA416361792 | C1orf167,MTHFR | c.3456A>T (p.Ala1152=) c.3957A>T (p.Ala1319=) c.*2423T>A (n.*2423T>A) c.2092A>T c.4517T>A (n.4517T>A) c.4014A>T (p.Ala1338=) c.1456A>T c.1192A>T n.251A>T c.4092A>T (p.Ala1364=) c.4038A>T (p.Ala1346=) c.3998A>T (p.Gln1333Leu) c.3684A>T (p.Ala1228=) c.2373A>T (p.Ala791=) | |
1 | g.11788258G>A | CA338470263 | C1orf167,MTHFR | c.3457G>A (p.Ala1153Thr) c.3958G>A (p.Ala1320Thr) c.*2422C>T (n.*2422C>T) c.2093G>A c.4516C>T (n.4516C>T) c.4015G>A (p.Ala1339Thr) c.1457G>A c.1193G>A n.252G>A c.4093G>A (p.Ala1365Thr) c.4039G>A (p.Ala1347Thr) c.3999G>A (p.Gln1333=) c.3685G>A (p.Ala1229Thr) c.2374G>A (p.Ala792Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788258G>C | CA338470265 | C1orf167,MTHFR | c.3457G>C (p.Ala1153Pro) c.3958G>C (p.Ala1320Pro) c.*2422C>G (n.*2422C>G) c.2093G>C c.4516C>G (n.4516C>G) c.4015G>C (p.Ala1339Pro) c.1457G>C c.1193G>C n.252G>C c.4093G>C (p.Ala1365Pro) c.4039G>C (p.Ala1347Pro) c.3999G>C (p.Gln1333His) c.3685G>C (p.Ala1229Pro) c.2374G>C (p.Ala792Pro) | |
1 | g.11788258G= | CA1153787156 | C1orf167,MTHFR | c.3457G= (p.Ala1153=) c.3958G= (p.Ala1320=) c.*2422C= (n.*2422C=) c.2093G= c.4516C= (n.4516C=) c.4015G= (p.Ala1339=) c.1457G= c.1193G= n.252G= c.4093G= (p.Ala1365=) c.4039G= (p.Ala1347=) c.3999G= (p.Gln1333=) c.3685G= (p.Ala1229=) c.2374G= (p.Ala792=) | |
1 | g.11788258G>T | CA338470264 | C1orf167,MTHFR | c.3457G>T (p.Ala1153Ser) c.3958G>T (p.Ala1320Ser) c.*2422C>A (n.*2422C>A) c.2093G>T c.4516C>A (n.4516C>A) c.4015G>T (p.Ala1339Ser) c.1457G>T c.1193G>T n.252G>T c.4093G>T (p.Ala1365Ser) c.4039G>T (p.Ala1347Ser) c.3999G>T (p.Gln1333His) c.3685G>T (p.Ala1229Ser) c.2374G>T (p.Ala792Ser) | |
1 | g.11788259C>A | CA338470266 | C1orf167,MTHFR | c.3458C>A (p.Ala1153Glu) c.3959C>A (p.Ala1320Glu) c.*2421G>T (n.*2421G>T) c.2094C>A c.4515G>T (n.4515G>T) c.4016C>A (p.Ala1339Glu) c.1458C>A c.1194C>A n.253C>A c.4094C>A (p.Ala1365Glu) c.4040C>A (p.Ala1347Glu) c.4000C>A (p.Arg1334Ser) c.3686C>A (p.Ala1229Glu) c.2375C>A (p.Ala792Glu) | |
1 | g.11788259C= | CA1153787160 | C1orf167,MTHFR | c.3458C= (p.Ala1153=) c.3959C= (p.Ala1320=) c.*2421G= (n.*2421G=) c.2094C= c.4515G= (n.4515G=) c.4016C= (p.Ala1339=) c.1458C= c.1194C= n.253C= c.4094C= (p.Ala1365=) c.4040C= (p.Ala1347=) c.4000C= (p.Arg1334=) c.3686C= (p.Ala1229=) c.2375C= (p.Ala792=) | |
1 | g.11788259C>G | CA338470267 | C1orf167,MTHFR | c.3458C>G (p.Ala1153Gly) c.3959C>G (p.Ala1320Gly) c.*2421G>C (n.*2421G>C) c.2094C>G c.4515G>C (n.4515G>C) c.4016C>G (p.Ala1339Gly) c.1458C>G c.1194C>G n.253C>G c.4094C>G (p.Ala1365Gly) c.4040C>G (p.Ala1347Gly) c.4000C>G (p.Arg1334Gly) c.3686C>G (p.Ala1229Gly) c.2375C>G (p.Ala792Gly) | |
1 | g.11788259C>T | CA338470268 | C1orf167,MTHFR | c.3458C>T (p.Ala1153Val) c.3959C>T (p.Ala1320Val) c.*2421G>A (n.*2421G>A) c.2094C>T c.4515G>A (n.4515G>A) c.4016C>T (p.Ala1339Val) c.1458C>T c.1194C>T n.253C>T c.4094C>T (p.Ala1365Val) c.4040C>T (p.Ala1347Val) c.4000C>T (p.Arg1334Cys) c.3686C>T (p.Ala1229Val) c.2375C>T (p.Ala792Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11788260G>A | CA416361798 | C1orf167,MTHFR | c.3459G>A (p.Ala1153=) c.3960G>A (p.Ala1320=) c.*2420C>T (n.*2420C>T) c.2095G>A c.4514C>T (n.4514C>T) c.4017G>A (p.Ala1339=) c.1459G>A c.1195G>A n.254G>A c.4095G>A (p.Ala1365=) c.4041G>A (p.Ala1347=) c.4001G>A (p.Arg1334His) c.3687G>A (p.Ala1229=) c.2376G>A (p.Ala792=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788260G>C | CA416361796 | C1orf167,MTHFR | c.3459G>C (p.Ala1153=) c.3960G>C (p.Ala1320=) c.*2420C>G (n.*2420C>G) c.2095G>C c.4514C>G (n.4514C>G) c.4017G>C (p.Ala1339=) c.1459G>C c.1195G>C n.254G>C c.4095G>C (p.Ala1365=) c.4041G>C (p.Ala1347=) c.4001G>C (p.Arg1334Pro) c.3687G>C (p.Ala1229=) c.2376G>C (p.Ala792=) | |
1 | g.11788260G= | CA1153787165 | C1orf167,MTHFR | c.3459G= (p.Ala1153=) c.3960G= (p.Ala1320=) c.*2420C= (n.*2420C=) c.2095G= c.4514C= (n.4514C=) c.4017G= (p.Ala1339=) c.1459G= c.1195G= n.254G= c.4095G= (p.Ala1365=) c.4041G= (p.Ala1347=) c.4001G= (p.Arg1334=) c.3687G= (p.Ala1229=) c.2376G= (p.Ala792=) | |
1 | g.11788260G>T | CA416361797 | C1orf167,MTHFR | c.3459G>T (p.Ala1153=) c.3960G>T (p.Ala1320=) c.*2420C>A (n.*2420C>A) c.2095G>T c.4514C>A (n.4514C>A) c.4017G>T (p.Ala1339=) c.1459G>T c.1195G>T n.254G>T c.4095G>T (p.Ala1365=) c.4041G>T (p.Ala1347=) c.4001G>T (p.Arg1334Leu) c.3687G>T (p.Ala1229=) c.2376G>T (p.Ala792=) | |
1 | g.11788261C>A | CA338470269 | C1orf167,MTHFR | c.3460C>A (p.Pro1154Thr) c.3961C>A (p.Pro1321Thr) c.*2419G>T (n.*2419G>T) c.2096C>A c.4513G>T (n.4513G>T) c.4018C>A (p.Pro1340Thr) c.1460C>A c.1196C>A n.255C>A c.4096C>A (p.Pro1366Thr) c.4042C>A (p.Pro1348Thr) c.4002C>A (p.Arg1334=) c.3688C>A (p.Pro1230Thr) c.2377C>A (p.Pro793Thr) | |
1 | g.11788261C= | CA1153787170 | C1orf167,MTHFR | c.3460C= (p.Pro1154=) c.3961C= (p.Pro1321=) c.*2419G= (n.*2419G=) c.2096C= c.4513G= (n.4513G=) c.4018C= (p.Pro1340=) c.1460C= c.1196C= n.255C= c.4096C= (p.Pro1366=) c.4042C= (p.Pro1348=) c.4002C= (p.Arg1334=) c.3688C= (p.Pro1230=) c.2377C= (p.Pro793=) | |
1 | g.11788261C>G | CA338470270 | C1orf167,MTHFR | c.3460C>G (p.Pro1154Ala) c.3961C>G (p.Pro1321Ala) c.*2419G>C (n.*2419G>C) c.2096C>G c.4513G>C (n.4513G>C) c.4018C>G (p.Pro1340Ala) c.1460C>G c.1196C>G n.255C>G c.4096C>G (p.Pro1366Ala) c.4042C>G (p.Pro1348Ala) c.4002C>G (p.Arg1334=) c.3688C>G (p.Pro1230Ala) c.2377C>G (p.Pro793Ala) | |
1 | g.11788261C>T | CA338470271 | C1orf167,MTHFR | c.3460C>T (p.Pro1154Ser) c.3961C>T (p.Pro1321Ser) c.*2419G>A (n.*2419G>A) c.2096C>T c.4513G>A (n.4513G>A) c.4018C>T (p.Pro1340Ser) c.1460C>T c.1196C>T n.255C>T c.4096C>T (p.Pro1366Ser) c.4042C>T (p.Pro1348Ser) c.4002C>T (p.Arg1334=) c.3688C>T (p.Pro1230Ser) c.2377C>T (p.Pro793Ser) | dbSNP gnomAD v4 |
1 | g.11788262C>A | CA338470272 | C1orf167,MTHFR | c.3461C>A (p.Pro1154Gln) c.3962C>A (p.Pro1321Gln) c.*2418G>T (n.*2418G>T) c.2097C>A c.4512G>T (n.4512G>T) c.4019C>A (p.Pro1340Gln) c.1461C>A c.1197C>A n.256C>A c.4097C>A (p.Pro1366Gln) c.4043C>A (p.Pro1348Gln) c.4003C>A (p.Arg1335=) c.3689C>A (p.Pro1230Gln) c.2378C>A (p.Pro793Gln) | |
1 | g.11788262C= | CA1153787175 | C1orf167,MTHFR | c.3461C= (p.Pro1154=) c.3962C= (p.Pro1321=) c.*2418G= (n.*2418G=) c.2097C= c.4512G= (n.4512G=) c.4019C= (p.Pro1340=) c.1461C= c.1197C= n.256C= c.4097C= (p.Pro1366=) c.4043C= (p.Pro1348=) c.4003C= (p.Arg1335=) c.3689C= (p.Pro1230=) c.2378C= (p.Pro793=) | |
1 | g.11788262C>G | CA338470273 | C1orf167,MTHFR | c.3461C>G (p.Pro1154Arg) c.3962C>G (p.Pro1321Arg) c.*2418G>C (n.*2418G>C) c.2097C>G c.4512G>C (n.4512G>C) c.4019C>G (p.Pro1340Arg) c.1461C>G c.1197C>G n.256C>G c.4097C>G (p.Pro1366Arg) c.4043C>G (p.Pro1348Arg) c.4003C>G (p.Arg1335Gly) c.3689C>G (p.Pro1230Arg) c.2378C>G (p.Pro793Arg) | |
1 | g.11788262C>T | CA17996244 | C1orf167,MTHFR | c.3461C>T (p.Pro1154Leu) c.3962C>T (p.Pro1321Leu) c.*2418G>A (n.*2418G>A) c.2097C>T c.4512G>A (n.4512G>A) c.4019C>T (p.Pro1340Leu) c.1461C>T c.1197C>T n.256C>T c.4097C>T (p.Pro1366Leu) c.4043C>T (p.Pro1348Leu) c.4003C>T (p.Arg1335Trp) c.3689C>T (p.Pro1230Leu) c.2378C>T (p.Pro793Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788263G>A | CA17996246 | C1orf167,MTHFR | c.3462G>A (p.Pro1154=) c.3963G>A (p.Pro1321=) c.*2417C>T (n.*2417C>T) c.2098G>A c.4511C>T (n.4511C>T) c.4020G>A (p.Pro1340=) c.1462G>A c.1198G>A n.257G>A c.4098G>A (p.Pro1366=) c.4044G>A (p.Pro1348=) c.4004G>A (p.Arg1335Gln) c.3690G>A (p.Pro1230=) c.2379G>A (p.Pro793=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788263G>C | CA416361799 | C1orf167,MTHFR | c.3462G>C (p.Pro1154=) c.3963G>C (p.Pro1321=) c.*2417C>G (n.*2417C>G) c.2098G>C c.4511C>G (n.4511C>G) c.4020G>C (p.Pro1340=) c.1462G>C c.1198G>C n.257G>C c.4098G>C (p.Pro1366=) c.4044G>C (p.Pro1348=) c.4004G>C (p.Arg1335Pro) c.3690G>C (p.Pro1230=) c.2379G>C (p.Pro793=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11788263G= | CA1153787181 | C1orf167,MTHFR | c.3462G= (p.Pro1154=) c.3963G= (p.Pro1321=) c.*2417C= (n.*2417C=) c.2098G= c.4511C= (n.4511C=) c.4020G= (p.Pro1340=) c.1462G= c.1198G= n.257G= c.4098G= (p.Pro1366=) c.4044G= (p.Pro1348=) c.4004G= (p.Arg1335=) c.3690G= (p.Pro1230=) c.2379G= (p.Pro793=) | |
1 | g.11788263G>T | CA416361800 | C1orf167,MTHFR | c.3462G>T (p.Pro1154=) c.3963G>T (p.Pro1321=) c.*2417C>A (n.*2417C>A) c.2098G>T c.4511C>A (n.4511C>A) c.4020G>T (p.Pro1340=) c.1462G>T c.1198G>T n.257G>T c.4098G>T (p.Pro1366=) c.4044G>T (p.Pro1348=) c.4004G>T (p.Arg1335Leu) c.3690G>T (p.Pro1230=) c.2379G>T (p.Pro793=) | |
1 | g.11788264G>A | CA338470274 | C1orf167,MTHFR | c.3463G>A (p.Val1155Met) c.3964G>A (p.Val1322Met) c.*2416C>T (n.*2416C>T) c.2099G>A c.4510C>T (n.4510C>T) c.4021G>A (p.Val1341Met) c.1463G>A c.1199G>A n.258G>A c.4099G>A (p.Val1367Met) c.4045G>A (p.Val1349Met) c.4005G>A (p.Arg1335=) c.3691G>A (p.Val1231Met) c.2380G>A (p.Val794Met) | dbSNP |
1 | g.11788264G>C | CA338470275 | C1orf167,MTHFR | c.3463G>C (p.Val1155Leu) c.3964G>C (p.Val1322Leu) c.*2416C>G (n.*2416C>G) c.2099G>C c.4510C>G (n.4510C>G) c.4021G>C (p.Val1341Leu) c.1463G>C c.1199G>C n.258G>C c.4099G>C (p.Val1367Leu) c.4045G>C (p.Val1349Leu) c.4005G>C (p.Arg1335=) c.3691G>C (p.Val1231Leu) c.2380G>C (p.Val794Leu) | |
1 | g.11788264G>T | CA338470276 | C1orf167,MTHFR | c.3463G>T (p.Val1155Leu) c.3964G>T (p.Val1322Leu) c.*2416C>A (n.*2416C>A) c.2099G>T c.4510C>A (n.4510C>A) c.4021G>T (p.Val1341Leu) c.1463G>T c.1199G>T n.258G>T c.4099G>T (p.Val1367Leu) c.4045G>T (p.Val1349Leu) c.4005G>T (p.Arg1335=) c.3691G>T (p.Val1231Leu) c.2380G>T (p.Val794Leu) | |
1 | g.11788265T>A | CA338470278 | C1orf167,MTHFR | c.3464T>A (p.Val1155Glu) c.3965T>A (p.Val1322Glu) c.*2415A>T (n.*2415A>T) c.2100T>A c.4509A>T (n.4509A>T) c.4022T>A (p.Val1341Glu) c.1464T>A c.1200T>A n.259T>A c.4100T>A (p.Val1367Glu) c.4046T>A (p.Val1349Glu) c.4006T>A (p.Cys1336Ser) c.3692T>A (p.Val1231Glu) c.2381T>A (p.Val794Glu) | |
1 | g.11788265T>C | CA338470279 | C1orf167,MTHFR | c.3464T>C (p.Val1155Ala) c.3965T>C (p.Val1322Ala) c.*2415A>G (n.*2415A>G) c.2100T>C c.4509A>G (n.4509A>G) c.4022T>C (p.Val1341Ala) c.1464T>C c.1200T>C n.259T>C c.4100T>C (p.Val1367Ala) c.4046T>C (p.Val1349Ala) c.4006T>C (p.Cys1336Arg) c.3692T>C (p.Val1231Ala) c.2381T>C (p.Val794Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788265T>G | CA338470277 | C1orf167,MTHFR | c.3464T>G (p.Val1155Gly) c.3965T>G (p.Val1322Gly) c.*2415A>C (n.*2415A>C) c.2100T>G c.4509A>C (n.4509A>C) c.4022T>G (p.Val1341Gly) c.1464T>G c.1200T>G n.259T>G c.4100T>G (p.Val1367Gly) c.4046T>G (p.Val1349Gly) c.4006T>G (p.Cys1336Gly) c.3692T>G (p.Val1231Gly) c.2381T>G (p.Val794Gly) | |
1 | g.11788265T= | CA1153787189 | C1orf167,MTHFR | c.3464T= (p.Val1155=) c.3965T= (p.Val1322=) c.*2415A= (n.*2415A=) c.2100T= c.4509A= (n.4509A=) c.4022T= (p.Val1341=) c.1464T= c.1200T= n.259T= c.4100T= (p.Val1367=) c.4046T= (p.Val1349=) c.4006T= (p.Cys1336=) c.3692T= (p.Val1231=) c.2381T= (p.Val794=) | |
1 | g.11788266G>A | CA416361805 | C1orf167,MTHFR | c.3465G>A (p.Val1155=) c.3966G>A (p.Val1322=) c.*2414C>T (n.*2414C>T) c.2101G>A c.4508C>T (n.4508C>T) c.4023G>A (p.Val1341=) c.1465G>A c.1201G>A n.260G>A c.4101G>A (p.Val1367=) c.4047G>A (p.Val1349=) c.4007G>A (p.Cys1336Tyr) c.3693G>A (p.Val1231=) c.2382G>A (p.Val794=) | |
1 | g.11788266G>C | CA416361803 | C1orf167,MTHFR | c.3465G>C (p.Val1155=) c.3966G>C (p.Val1322=) c.*2414C>G (n.*2414C>G) c.2101G>C c.4508C>G (n.4508C>G) c.4023G>C (p.Val1341=) c.1465G>C c.1201G>C n.260G>C c.4101G>C (p.Val1367=) c.4047G>C (p.Val1349=) c.4007G>C (p.Cys1336Ser) c.3693G>C (p.Val1231=) c.2382G>C (p.Val794=) | |
1 | g.11788266G>T | CA416361804 | C1orf167,MTHFR | c.3465G>T (p.Val1155=) c.3966G>T (p.Val1322=) c.*2414C>A (n.*2414C>A) c.2101G>T c.4508C>A (n.4508C>A) c.4023G>T (p.Val1341=) c.1465G>T c.1201G>T n.260G>T c.4101G>T (p.Val1367=) c.4047G>T (p.Val1349=) c.4007G>T (p.Cys1336Phe) c.3693G>T (p.Val1231=) c.2382G>T (p.Val794=) | |
1 | g.11788267C>A | CA338470280 | C1orf167,MTHFR | c.3466C>A (p.Pro1156Thr) c.3967C>A (p.Pro1323Thr) c.*2413G>T (n.*2413G>T) c.2102C>A c.4507G>T (n.4507G>T) c.4024C>A (p.Pro1342Thr) c.1466C>A c.1202C>A n.261C>A c.4102C>A (p.Pro1368Thr) c.4048C>A (p.Pro1350Thr) c.4008C>A (p.Cys1336Ter) c.3694C>A (p.Pro1232Thr) c.2383C>A (p.Pro795Thr) | |
1 | g.11788267C>G | CA338470281 | C1orf167,MTHFR | c.3466C>G (p.Pro1156Ala) c.3967C>G (p.Pro1323Ala) c.*2413G>C (n.*2413G>C) c.2102C>G c.4507G>C (n.4507G>C) c.4024C>G (p.Pro1342Ala) c.1466C>G c.1202C>G n.261C>G c.4102C>G (p.Pro1368Ala) c.4048C>G (p.Pro1350Ala) c.4008C>G (p.Cys1336Trp) c.3694C>G (p.Pro1232Ala) c.2383C>G (p.Pro795Ala) | |
1 | g.11788267C>T | CA338470282 | C1orf167,MTHFR | c.3466C>T (p.Pro1156Ser) c.3967C>T (p.Pro1323Ser) c.*2413G>A (n.*2413G>A) c.2102C>T c.4507G>A (n.4507G>A) c.4024C>T (p.Pro1342Ser) c.1466C>T c.1202C>T n.261C>T c.4102C>T (p.Pro1368Ser) c.4048C>T (p.Pro1350Ser) c.4008C>T (p.Cys1336=) c.3694C>T (p.Pro1232Ser) c.2383C>T (p.Pro795Ser) | gnomAD v4 |
1 | g.11788268C>A | CA338470283 | C1orf167,MTHFR | c.3467C>A (p.Pro1156His) c.3968C>A (p.Pro1323His) c.*2412G>T (n.*2412G>T) c.2103C>A c.4506G>T (n.4506G>T) c.4025C>A (p.Pro1342His) c.1467C>A c.1203C>A n.262C>A c.4103C>A (p.Pro1368His) c.4049C>A (p.Pro1350His) c.4009C>A (p.Leu1337Ile) c.3695C>A (p.Pro1232His) c.2384C>A (p.Pro795His) | |
1 | g.11788268C>G | CA338470284 | C1orf167,MTHFR | c.3467C>G (p.Pro1156Arg) c.3968C>G (p.Pro1323Arg) c.*2412G>C (n.*2412G>C) c.2103C>G c.4506G>C (n.4506G>C) c.4025C>G (p.Pro1342Arg) c.1467C>G c.1203C>G n.262C>G c.4103C>G (p.Pro1368Arg) c.4049C>G (p.Pro1350Arg) c.4009C>G (p.Leu1337Val) c.3695C>G (p.Pro1232Arg) c.2384C>G (p.Pro795Arg) | |
1 | g.11788268C>T | CA338470285 | C1orf167,MTHFR | c.3467C>T (p.Pro1156Leu) c.3968C>T (p.Pro1323Leu) c.*2412G>A (n.*2412G>A) c.2103C>T c.4506G>A (n.4506G>A) c.4025C>T (p.Pro1342Leu) c.1467C>T c.1203C>T n.262C>T c.4103C>T (p.Pro1368Leu) c.4049C>T (p.Pro1350Leu) c.4009C>T (p.Leu1337Phe) c.3695C>T (p.Pro1232Leu) c.2384C>T (p.Pro795Leu) | |
1 | g.11788269T>A | CA416361809 | C1orf167,MTHFR | c.3468T>A (p.Pro1156=) c.3969T>A (p.Pro1323=) c.*2411A>T (n.*2411A>T) c.2104T>A c.4505A>T (n.4505A>T) c.4026T>A (p.Pro1342=) c.1468T>A c.1204T>A n.263T>A c.4104T>A (p.Pro1368=) c.4050T>A (p.Pro1350=) c.4010T>A (p.Leu1337His) c.3696T>A (p.Pro1232=) c.2385T>A (p.Pro795=) | |
1 | g.11788269T>C | CA416361810 | C1orf167,MTHFR | c.3468T>C (p.Pro1156=) c.3969T>C (p.Pro1323=) c.*2411A>G (n.*2411A>G) c.2104T>C c.4505A>G (n.4505A>G) c.4026T>C (p.Pro1342=) c.1468T>C c.1204T>C n.263T>C c.4104T>C (p.Pro1368=) c.4050T>C (p.Pro1350=) c.4010T>C (p.Leu1337Pro) c.3696T>C (p.Pro1232=) c.2385T>C (p.Pro795=) | |
1 | g.11788269T>G | CA416361811 | C1orf167,MTHFR | c.3468T>G (p.Pro1156=) c.3969T>G (p.Pro1323=) c.*2411A>C (n.*2411A>C) c.2104T>G c.4505A>C (n.4505A>C) c.4026T>G (p.Pro1342=) c.1468T>G c.1204T>G n.263T>G c.4104T>G (p.Pro1368=) c.4050T>G (p.Pro1350=) c.4010T>G (p.Leu1337Arg) c.3696T>G (p.Pro1232=) c.2385T>G (p.Pro795=) | |
1 | g.11788270C>A | CA416361812 | C1orf167,MTHFR | c.3469C>A (p.Arg1157=) c.3970C>A (p.Arg1324=) c.*2410G>T (n.*2410G>T) c.2105C>A c.4504G>T (n.4504G>T) c.4027C>A (p.Arg1343=) c.1469C>A c.1205C>A n.264C>A c.4105C>A (p.Arg1369=) c.4051C>A (p.Arg1351=) c.4011C>A (p.Leu1337=) c.3697C>A (p.Arg1233=) c.2386C>A (p.Arg796=) | |
1 | g.11788270C= | CA1153787193 | C1orf167,MTHFR | c.3469C= (p.Arg1157=) c.3970C= (p.Arg1324=) c.*2410G= (n.*2410G=) c.2105C= c.4504G= (n.4504G=) c.4027C= (p.Arg1343=) c.1469C= c.1205C= n.264C= c.4105C= (p.Arg1369=) c.4051C= (p.Arg1351=) c.4011C= (p.Leu1337=) c.3697C= (p.Arg1233=) c.2386C= (p.Arg796=) | |
1 | g.11788270C>G | CA338470286 | C1orf167,MTHFR | c.3469C>G (p.Arg1157Gly) c.3970C>G (p.Arg1324Gly) c.*2410G>C (n.*2410G>C) c.2105C>G c.4504G>C (n.4504G>C) c.4027C>G (p.Arg1343Gly) c.1469C>G c.1205C>G n.264C>G c.4105C>G (p.Arg1369Gly) c.4051C>G (p.Arg1351Gly) c.4011C>G (p.Leu1337=) c.3697C>G (p.Arg1233Gly) c.2386C>G (p.Arg796Gly) | |
1 | g.11788270C>T | CA595082 | C1orf167,MTHFR | c.3469C>T (p.Arg1157Ter) c.3970C>T (p.Arg1324Ter) c.*2410G>A (n.*2410G>A) c.2105C>T c.4504G>A (n.4504G>A) c.4027C>T (p.Arg1343Ter) c.1469C>T c.1205C>T n.264C>T c.4105C>T (p.Arg1369Ter) c.4051C>T (p.Arg1351Ter) c.4011C>T (p.Leu1337=) c.3697C>T (p.Arg1233Ter) c.2386C>T (p.Arg796Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788271G>A | CA17996255 | C1orf167,MTHFR | c.3470G>A (p.Arg1157Gln) c.3971G>A (p.Arg1324Gln) c.*2409C>T (n.*2409C>T) c.2106G>A c.4503C>T (n.4503C>T) c.4028G>A (p.Arg1343Gln) c.1470G>A c.1206G>A n.265G>A c.4106G>A (p.Arg1369Gln) c.4052G>A (p.Arg1351Gln) c.4012G>A (p.Glu1338Lys) c.3698G>A (p.Arg1233Gln) c.2387G>A (p.Arg796Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788271G>C | CA338470287 | C1orf167,MTHFR | c.3470G>C (p.Arg1157Pro) c.3971G>C (p.Arg1324Pro) c.*2409C>G (n.*2409C>G) c.2106G>C c.4503C>G (n.4503C>G) c.4028G>C (p.Arg1343Pro) c.1470G>C c.1206G>C n.265G>C c.4106G>C (p.Arg1369Pro) c.4052G>C (p.Arg1351Pro) c.4012G>C (p.Glu1338Gln) c.3698G>C (p.Arg1233Pro) c.2387G>C (p.Arg796Pro) | gnomAD v4 |
1 | g.11788271G= | CA1153787197 | C1orf167,MTHFR | c.3470G= (p.Arg1157=) c.3971G= (p.Arg1324=) c.*2409C= (n.*2409C=) c.2106G= c.4503C= (n.4503C=) c.4028G= (p.Arg1343=) c.1470G= c.1206G= n.265G= c.4106G= (p.Arg1369=) c.4052G= (p.Arg1351=) c.4012G= (p.Glu1338=) c.3698G= (p.Arg1233=) c.2387G= (p.Arg796=) | |
1 | g.11788271G>T | CA338470288 | C1orf167,MTHFR | c.3470G>T (p.Arg1157Leu) c.3971G>T (p.Arg1324Leu) c.*2409C>A (n.*2409C>A) c.2106G>T c.4503C>A (n.4503C>A) c.4028G>T (p.Arg1343Leu) c.1470G>T c.1206G>T n.265G>T c.4106G>T (p.Arg1369Leu) c.4052G>T (p.Arg1351Leu) c.4012G>T (p.Glu1338Ter) c.3698G>T (p.Arg1233Leu) c.2387G>T (p.Arg796Leu) | |
1 | g.11788272A>C | CA416361815 | C1orf167,MTHFR | c.3471A>C (p.Arg1157=) c.3972A>C (p.Arg1324=) c.*2408T>G (n.*2408T>G) c.2107A>C c.4502T>G (n.4502T>G) c.4029A>C (p.Arg1343=) c.1471A>C c.1207A>C n.266A>C c.4107A>C (p.Arg1369=) c.4053A>C (p.Arg1351=) c.4013A>C (p.Glu1338Ala) c.3699A>C (p.Arg1233=) c.2388A>C (p.Arg796=) | |
1 | g.11788272A>G | CA416361816 | C1orf167,MTHFR | c.3471A>G (p.Arg1157=) c.3972A>G (p.Arg1324=) c.*2408T>C (n.*2408T>C) c.2107A>G c.4502T>C (n.4502T>C) c.4029A>G (p.Arg1343=) c.1471A>G c.1207A>G n.266A>G c.4107A>G (p.Arg1369=) c.4053A>G (p.Arg1351=) c.4013A>G (p.Glu1338Gly) c.3699A>G (p.Arg1233=) c.2388A>G (p.Arg796=) | |
1 | g.11788272A>T | CA416361817 | C1orf167,MTHFR | c.3471A>T (p.Arg1157=) c.3972A>T (p.Arg1324=) c.*2408T>A (n.*2408T>A) c.2107A>T c.4502T>A (n.4502T>A) c.4029A>T (p.Arg1343=) c.1471A>T c.1207A>T n.266A>T c.4107A>T (p.Arg1369=) c.4053A>T (p.Arg1351=) c.4013A>T (p.Glu1338Val) c.3699A>T (p.Arg1233=) c.2388A>T (p.Arg796=) | |
1 | g.11788273G>A | CA338470289 | C1orf167,MTHFR | c.3472G>A (p.Gly1158Ser) c.3973G>A (p.Gly1325Ser) c.*2407C>T (n.*2407C>T) c.2108G>A c.4501C>T (n.4501C>T) c.4030G>A (p.Gly1344Ser) c.1472G>A c.1208G>A n.267G>A c.4108G>A (p.Gly1370Ser) c.4054G>A (p.Gly1352Ser) c.4014G>A (p.Glu1338=) c.3700G>A (p.Gly1234Ser) c.2389G>A (p.Gly797Ser) | dbSNP gnomAD v4 |
1 | g.11788273G>C | CA17996261 | C1orf167,MTHFR | c.3472G>C (p.Gly1158Arg) c.3973G>C (p.Gly1325Arg) c.*2407C>G (n.*2407C>G) c.2108G>C c.4501C>G (n.4501C>G) c.4030G>C (p.Gly1344Arg) c.1472G>C c.1208G>C n.267G>C c.4108G>C (p.Gly1370Arg) c.4054G>C (p.Gly1352Arg) c.4014G>C (p.Glu1338Asp) c.3700G>C (p.Gly1234Arg) c.2389G>C (p.Gly797Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788273G= | CA1153787203 | C1orf167,MTHFR | c.3472G= (p.Gly1158=) c.3973G= (p.Gly1325=) c.*2407C= (n.*2407C=) c.2108G= c.4501C= (n.4501C=) c.4030G= (p.Gly1344=) c.1472G= c.1208G= n.267G= c.4108G= (p.Gly1370=) c.4054G= (p.Gly1352=) c.4014G= (p.Glu1338=) c.3700G= (p.Gly1234=) c.2389G= (p.Gly797=) | |
1 | g.11788273G>T | CA338470290 | C1orf167,MTHFR | c.3472G>T (p.Gly1158Cys) c.3973G>T (p.Gly1325Cys) c.*2407C>A (n.*2407C>A) c.2108G>T c.4501C>A (n.4501C>A) c.4030G>T (p.Gly1344Cys) c.1472G>T c.1208G>T n.267G>T c.4108G>T (p.Gly1370Cys) c.4054G>T (p.Gly1352Cys) c.4014G>T (p.Glu1338Asp) c.3700G>T (p.Gly1234Cys) c.2389G>T (p.Gly797Cys) | |
1 | g.11788274G>A | CA338470292 | C1orf167,MTHFR | c.3473G>A (p.Gly1158Asp) c.3974G>A (p.Gly1325Asp) c.*2406C>T (n.*2406C>T) c.2109G>A c.4500C>T (n.4500C>T) c.4031G>A (p.Gly1344Asp) c.1473G>A c.1209G>A n.268G>A c.4109G>A (p.Gly1370Asp) c.4055G>A (p.Gly1352Asp) c.4015G>A (p.Ala1339Thr) c.3701G>A (p.Gly1234Asp) c.2390G>A (p.Gly797Asp) | dbSNP gnomAD v4 |
1 | g.11788274G>C | CA338470291 | C1orf167,MTHFR | c.3473G>C (p.Gly1158Ala) c.3974G>C (p.Gly1325Ala) c.*2406C>G (n.*2406C>G) c.2109G>C c.4500C>G (n.4500C>G) c.4031G>C (p.Gly1344Ala) c.1473G>C c.1209G>C n.268G>C c.4109G>C (p.Gly1370Ala) c.4055G>C (p.Gly1352Ala) c.4015G>C (p.Ala1339Pro) c.3701G>C (p.Gly1234Ala) c.2390G>C (p.Gly797Ala) | |
1 | g.11788274G= | CA1153787207 | C1orf167,MTHFR | c.3473G= (p.Gly1158=) c.3974G= (p.Gly1325=) c.*2406C= (n.*2406C=) c.2109G= c.4500C= (n.4500C=) c.4031G= (p.Gly1344=) c.1473G= c.1209G= n.268G= c.4109G= (p.Gly1370=) c.4055G= (p.Gly1352=) c.4015G= (p.Ala1339=) c.3701G= (p.Gly1234=) c.2390G= (p.Gly797=) | |
1 | g.11788274G>T | CA17996281 | C1orf167,MTHFR | c.3473G>T (p.Gly1158Val) c.3974G>T (p.Gly1325Val) c.*2406C>A (n.*2406C>A) c.2109G>T c.4500C>A (n.4500C>A) c.4031G>T (p.Gly1344Val) c.1473G>T c.1209G>T n.268G>T c.4109G>T (p.Gly1370Val) c.4055G>T (p.Gly1352Val) c.4015G>T (p.Ala1339Ser) c.3701G>T (p.Gly1234Val) c.2390G>T (p.Gly797Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11788276_11788280del | CA2643295677 | C1orf167,MTHFR | c.3475_3479del (p.Thr1159PhefsTer?) c.3976_3980del (p.Thr1326PhefsTer?) c.*2402_*2406del (n.*2402_*2406del) c.2111_2115del c.4496_4500del (n.4496_4500del) c.4033_4037del (p.Thr1345PhefsTer?) c.1475_1479del c.1211_1215del n.270_274del c.4111_4115del (p.Thr1371PhefsTer?) c.4057_4061del (p.Thr1353PhefsTer?) c.4017_4021del (p.Leu1340SerfsTer?) c.3703_3707del (p.Thr1235PhefsTer?) c.2392_2396del (p.Thr798PhefsTer?) | gnomAD v4 |
1 | g.11788275C>A | CA416361821 | C1orf167,MTHFR | c.3474C>A (p.Gly1158=) c.3975C>A (p.Gly1325=) c.*2405G>T (n.*2405G>T) c.2110C>A c.4499G>T (n.4499G>T) c.4032C>A (p.Gly1344=) c.1474C>A c.1210C>A n.269C>A c.4110C>A (p.Gly1370=) c.4056C>A (p.Gly1352=) c.4016C>A (p.Ala1339Glu) c.3702C>A (p.Gly1234=) c.2391C>A (p.Gly797=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788275C= | CA1153787211 | C1orf167,MTHFR | c.3474C= (p.Gly1158=) c.3975C= (p.Gly1325=) c.*2405G= (n.*2405G=) c.2110C= c.4499G= (n.4499G=) c.4032C= (p.Gly1344=) c.1474C= c.1210C= n.269C= c.4110C= (p.Gly1370=) c.4056C= (p.Gly1352=) c.4016C= (p.Ala1339=) c.3702C= (p.Gly1234=) c.2391C= (p.Gly797=) | |
1 | g.11788275C>G | CA416361823 | C1orf167,MTHFR | c.3474C>G (p.Gly1158=) c.3975C>G (p.Gly1325=) c.*2405G>C (n.*2405G>C) c.2110C>G c.4499G>C (n.4499G>C) c.4032C>G (p.Gly1344=) c.1474C>G c.1210C>G n.269C>G c.4110C>G (p.Gly1370=) c.4056C>G (p.Gly1352=) c.4016C>G (p.Ala1339Gly) c.3702C>G (p.Gly1234=) c.2391C>G (p.Gly797=) | |
1 | g.11788275C>T | CA416361824 | C1orf167,MTHFR | c.3474C>T (p.Gly1158=) c.3975C>T (p.Gly1325=) c.*2405G>A (n.*2405G>A) c.2110C>T c.4499G>A (n.4499G>A) c.4032C>T (p.Gly1344=) c.1474C>T c.1210C>T n.269C>T c.4110C>T (p.Gly1370=) c.4056C>T (p.Gly1352=) c.4016C>T (p.Ala1339Val) c.3702C>T (p.Gly1234=) c.2391C>T (p.Gly797=) | gnomAD v4 |
1 | g.11788276A>C | CA338470293 | C1orf167,MTHFR | c.3475A>C (p.Thr1159Pro) c.3976A>C (p.Thr1326Pro) c.*2404T>G (n.*2404T>G) c.2111A>C c.4498T>G (n.4498T>G) c.4033A>C (p.Thr1345Pro) c.1475A>C c.1211A>C n.270A>C c.4111A>C (p.Thr1371Pro) c.4057A>C (p.Thr1353Pro) c.4017A>C (p.Ala1339=) c.3703A>C (p.Thr1235Pro) c.2392A>C (p.Thr798Pro) | |
1 | g.11788276A>G | CA338470294 | C1orf167,MTHFR | c.3475A>G (p.Thr1159Ala) c.3976A>G (p.Thr1326Ala) c.*2404T>C (n.*2404T>C) c.2111A>G c.4498T>C (n.4498T>C) c.4033A>G (p.Thr1345Ala) c.1475A>G c.1211A>G n.270A>G c.4111A>G (p.Thr1371Ala) c.4057A>G (p.Thr1353Ala) c.4017A>G (p.Ala1339=) c.3703A>G (p.Thr1235Ala) c.2392A>G (p.Thr798Ala) | |
1 | g.11788276A>T | CA338470295 | C1orf167,MTHFR | c.3475A>T (p.Thr1159Ser) c.3976A>T (p.Thr1326Ser) c.*2404T>A (n.*2404T>A) c.2111A>T c.4498T>A (n.4498T>A) c.4033A>T (p.Thr1345Ser) c.1475A>T c.1211A>T n.270A>T c.4111A>T (p.Thr1371Ser) c.4057A>T (p.Thr1353Ser) c.4017A>T (p.Ala1339=) c.3703A>T (p.Thr1235Ser) c.2392A>T (p.Thr798Ser) | |
1 | g.11788277C>A | CA338470296 | C1orf167,MTHFR | c.3476C>A (p.Thr1159Asn) c.3977C>A (p.Thr1326Asn) c.*2403G>T (n.*2403G>T) c.2112C>A c.4497G>T (n.4497G>T) c.4034C>A (p.Thr1345Asn) c.1476C>A c.1212C>A n.271C>A c.4112C>A (p.Thr1371Asn) c.4058C>A (p.Thr1353Asn) c.4018C>A (p.Leu1340Met) c.3704C>A (p.Thr1235Asn) c.2393C>A (p.Thr798Asn) | |
1 | g.11788277C>G | CA338470297 | C1orf167,MTHFR | c.3476C>G (p.Thr1159Ser) c.3977C>G (p.Thr1326Ser) c.*2403G>C (n.*2403G>C) c.2112C>G c.4497G>C (n.4497G>C) c.4034C>G (p.Thr1345Ser) c.1476C>G c.1212C>G n.271C>G c.4112C>G (p.Thr1371Ser) c.4058C>G (p.Thr1353Ser) c.4018C>G (p.Leu1340Val) c.3704C>G (p.Thr1235Ser) c.2393C>G (p.Thr798Ser) | gnomAD v4 |
1 | g.11788277C>T | CA338470298 | C1orf167,MTHFR | c.3476C>T (p.Thr1159Ile) c.3977C>T (p.Thr1326Ile) c.*2403G>A (n.*2403G>A) c.2112C>T c.4497G>A (n.4497G>A) c.4034C>T (p.Thr1345Ile) c.1476C>T c.1212C>T n.271C>T c.4112C>T (p.Thr1371Ile) c.4058C>T (p.Thr1353Ile) c.4018C>T (p.Leu1340=) c.3704C>T (p.Thr1235Ile) c.2393C>T (p.Thr798Ile) | |
1 | g.11788277_11788278insCGGCGC | CA2574214377 | C1orf167,MTHFR | c.3476_3477insCGGCGC (p.Thr1159_Ala1160insGlyAla) c.3977_3978insCGGCGC (p.Thr1326_Ala1327insGlyAla) c.*2403_*2404insCGCCGG (n.*2403_*2404insCGCCGG) c.2112_2113insCGGCGC c.4497_4498insCGCCGG (n.4497_4498insCGCCGG) c.4034_4035insCGGCGC (p.Thr1345_Ala1346insGlyAla) c.1476_1477insCGGCGC c.1212_1213insCGGCGC n.271_272insCGGCGC c.4112_4113insCGGCGC (p.Thr1371_Ala1372insGlyAla) c.4058_4059insCGGCGC (p.Thr1353_Ala1354insGlyAla) c.4018_4019insCGGCGC (p.Ala1339_Leu1340insProAla) c.3704_3705insCGGCGC (p.Thr1235_Ala1236insGlyAla) c.2393_2394insCGGCGC (p.Thr798_Ala799insGlyAla) | |
1 | g.11788277dup | CA2740108932 | C1orf167,MTHFR | c.3476dup (p.Ala1160CysfsTer?) c.3977dup (p.Ala1327CysfsTer?) c.*2403dup (n.*2403dup) c.2112dup c.4497dup (n.4497dup) c.4034dup (p.Ala1346CysfsTer?) c.1476dup c.1212dup n.271dup c.4112dup (p.Ala1372CysfsTer?) c.4058dup (p.Ala1354CysfsTer?) c.4018dup (p.Leu1340ProfsTer?) c.3704dup (p.Ala1236CysfsTer?) c.2393dup (p.Ala799CysfsTer?) | |
1 | g.11788278T>A | CA416361829 | C1orf167,MTHFR | c.3477T>A (p.Thr1159=) c.3978T>A (p.Thr1326=) c.*2402A>T (n.*2402A>T) c.2113T>A c.4496A>T (n.4496A>T) c.4035T>A (p.Thr1345=) c.1477T>A c.1213T>A n.272T>A c.4113T>A (p.Thr1371=) c.4059T>A (p.Thr1353=) c.4019T>A (p.Leu1340Gln) c.3705T>A (p.Thr1235=) c.2394T>A (p.Thr798=) | |
1 | g.11788278T>C | CA416361830 | C1orf167,MTHFR | c.3477T>C (p.Thr1159=) c.3978T>C (p.Thr1326=) c.*2402A>G (n.*2402A>G) c.2113T>C c.4496A>G (n.4496A>G) c.4035T>C (p.Thr1345=) c.1477T>C c.1213T>C n.272T>C c.4113T>C (p.Thr1371=) c.4059T>C (p.Thr1353=) c.4019T>C (p.Leu1340Pro) c.3705T>C (p.Thr1235=) c.2394T>C (p.Thr798=) | gnomAD v4 |
1 | g.11788278T>G | CA416361832 | C1orf167,MTHFR | c.3477T>G (p.Thr1159=) c.3978T>G (p.Thr1326=) c.*2402A>C (n.*2402A>C) c.2113T>G c.4496A>C (n.4496A>C) c.4035T>G (p.Thr1345=) c.1477T>G c.1213T>G n.272T>G c.4113T>G (p.Thr1371=) c.4059T>G (p.Thr1353=) c.4019T>G (p.Leu1340Arg) c.3705T>G (p.Thr1235=) c.2394T>G (p.Thr798=) | |
1 | g.11788279G>A | CA338470299 | C1orf167,MTHFR | c.3478G>A (p.Ala1160Thr) c.3979G>A (p.Ala1327Thr) c.*2401C>T (n.*2401C>T) c.2114G>A c.4495C>T (n.4495C>T) c.4036G>A (p.Ala1346Thr) c.1478G>A c.1214G>A n.273G>A c.4114G>A (p.Ala1372Thr) c.4060G>A (p.Ala1354Thr) c.4020G>A (p.Leu1340=) c.3706G>A (p.Ala1236Thr) c.2395G>A (p.Ala799Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788279G>C | CA338470300 | C1orf167,MTHFR | c.3478G>C (p.Ala1160Pro) c.3979G>C (p.Ala1327Pro) c.*2401C>G (n.*2401C>G) c.2114G>C c.4495C>G (n.4495C>G) c.4036G>C (p.Ala1346Pro) c.1478G>C c.1214G>C n.273G>C c.4114G>C (p.Ala1372Pro) c.4060G>C (p.Ala1354Pro) c.4020G>C (p.Leu1340=) c.3706G>C (p.Ala1236Pro) c.2395G>C (p.Ala799Pro) | |
1 | g.11788279G= | CA1153787219 | C1orf167,MTHFR | c.3478G= (p.Ala1160=) c.3979G= (p.Ala1327=) c.*2401C= (n.*2401C=) c.2114G= c.4495C= (n.4495C=) c.4036G= (p.Ala1346=) c.1478G= c.1214G= n.273G= c.4114G= (p.Ala1372=) c.4060G= (p.Ala1354=) c.4020G= (p.Leu1340=) c.3706G= (p.Ala1236=) c.2395G= (p.Ala799=) | |
1 | g.11788279G>T | CA338470301 | C1orf167,MTHFR | c.3478G>T (p.Ala1160Ser) c.3979G>T (p.Ala1327Ser) c.*2401C>A (n.*2401C>A) c.2114G>T c.4495C>A (n.4495C>A) c.4036G>T (p.Ala1346Ser) c.1478G>T c.1214G>T n.273G>T c.4114G>T (p.Ala1372Ser) c.4060G>T (p.Ala1354Ser) c.4020G>T (p.Leu1340=) c.3706G>T (p.Ala1236Ser) c.2395G>T (p.Ala799Ser) | |
1 | g.11788280C>A | CA338470302 | C1orf167,MTHFR | c.3479C>A (p.Ala1160Asp) c.3980C>A (p.Ala1327Asp) c.*2400G>T (n.*2400G>T) c.2115C>A c.4494G>T (n.4494G>T) c.4037C>A (p.Ala1346Asp) c.1479C>A c.1215C>A n.274C>A c.4115C>A (p.Ala1372Asp) c.4061C>A (p.Ala1354Asp) c.4021C>A (p.Leu1341Ile) c.3707C>A (p.Ala1236Asp) c.2396C>A (p.Ala799Asp) | |
1 | g.11788280C>G | CA338470303 | C1orf167,MTHFR | c.3479C>G (p.Ala1160Gly) c.3980C>G (p.Ala1327Gly) c.*2400G>C (n.*2400G>C) c.2115C>G c.4494G>C (n.4494G>C) c.4037C>G (p.Ala1346Gly) c.1479C>G c.1215C>G n.274C>G c.4115C>G (p.Ala1372Gly) c.4061C>G (p.Ala1354Gly) c.4021C>G (p.Leu1341Val) c.3707C>G (p.Ala1236Gly) c.2396C>G (p.Ala799Gly) | |
1 | g.11788280C>T | CA338470304 | C1orf167,MTHFR | c.3479C>T (p.Ala1160Val) c.3980C>T (p.Ala1327Val) c.*2400G>A (n.*2400G>A) c.2115C>T c.4494G>A (n.4494G>A) c.4037C>T (p.Ala1346Val) c.1479C>T c.1215C>T n.274C>T c.4115C>T (p.Ala1372Val) c.4061C>T (p.Ala1354Val) c.4021C>T (p.Leu1341Phe) c.3707C>T (p.Ala1236Val) c.2396C>T (p.Ala799Val) | gnomAD v4 |