Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
1 | g.11788281T>A | CA416361836 | C1orf167,MTHFR | c.3480T>A (p.Ala1160=) c.3981T>A (p.Ala1327=) c.*2399A>T (n.*2399A>T) c.2116T>A c.4493A>T (n.4493A>T) c.4038T>A (p.Ala1346=) c.1480T>A c.1216T>A n.275T>A c.4116T>A (p.Ala1372=) c.4062T>A (p.Ala1354=) c.4022T>A (p.Leu1341His) c.3708T>A (p.Ala1236=) c.2397T>A (p.Ala799=) | |
1 | g.11788281T>C | CA416361834 | C1orf167,MTHFR | c.3480T>C (p.Ala1160=) c.3981T>C (p.Ala1327=) c.*2399A>G (n.*2399A>G) c.2116T>C c.4493A>G (n.4493A>G) c.4038T>C (p.Ala1346=) c.1480T>C c.1216T>C n.275T>C c.4116T>C (p.Ala1372=) c.4062T>C (p.Ala1354=) c.4022T>C (p.Leu1341Pro) c.3708T>C (p.Ala1236=) c.2397T>C (p.Ala799=) | |
1 | g.11788281T>G | CA416361835 | C1orf167,MTHFR | c.3480T>G (p.Ala1160=) c.3981T>G (p.Ala1327=) c.*2399A>C (n.*2399A>C) c.2116T>G c.4493A>C (n.4493A>C) c.4038T>G (p.Ala1346=) c.1480T>G c.1216T>G n.275T>G c.4116T>G (p.Ala1372=) c.4062T>G (p.Ala1354=) c.4022T>G (p.Leu1341Arg) c.3708T>G (p.Ala1236=) c.2397T>G (p.Ala799=) | |
1 | g.11788282T>A | CA338470305 | C1orf167,MTHFR | c.3481T>A (p.Ser1161Thr) c.3982T>A (p.Ser1328Thr) c.*2398A>T (n.*2398A>T) c.2117T>A c.4492A>T (n.4492A>T) c.4039T>A (p.Ser1347Thr) c.1481T>A c.1217T>A n.276T>A c.4117T>A (p.Ser1373Thr) c.4063T>A (p.Ser1355Thr) c.4023T>A (p.Leu1341=) c.3709T>A (p.Ser1237Thr) c.2398T>A (p.Ser800Thr) | |
1 | g.11788282T>C | CA338470307 | C1orf167,MTHFR | c.3481T>C (p.Ser1161Pro) c.3982T>C (p.Ser1328Pro) c.*2398A>G (n.*2398A>G) c.2117T>C c.4492A>G (n.4492A>G) c.4039T>C (p.Ser1347Pro) c.1481T>C c.1217T>C n.276T>C c.4117T>C (p.Ser1373Pro) c.4063T>C (p.Ser1355Pro) c.4023T>C (p.Leu1341=) c.3709T>C (p.Ser1237Pro) c.2398T>C (p.Ser800Pro) | |
1 | g.11788282T>G | CA338470306 | C1orf167,MTHFR | c.3481T>G (p.Ser1161Ala) c.3982T>G (p.Ser1328Ala) c.*2398A>C (n.*2398A>C) c.2117T>G c.4492A>C (n.4492A>C) c.4039T>G (p.Ser1347Ala) c.1481T>G c.1217T>G n.276T>G c.4117T>G (p.Ser1373Ala) c.4063T>G (p.Ser1355Ala) c.4023T>G (p.Leu1341=) c.3709T>G (p.Ser1237Ala) c.2398T>G (p.Ser800Ala) | |
1 | g.11788283C>A | CA338470308 | C1orf167,MTHFR | c.3482C>A (p.Ser1161Ter) c.3983C>A (p.Ser1328Ter) c.*2397G>T (n.*2397G>T) c.2118C>A c.4491G>T (n.4491G>T) c.4040C>A (p.Ser1347Ter) c.1482C>A c.1218C>A n.277C>A c.4118C>A (p.Ser1373Ter) c.4064C>A (p.Ser1355Ter) c.4024C>A (p.His1342Asn) c.3710C>A (p.Ser1237Ter) c.2399C>A (p.Ser800Ter) | |
1 | g.11788283C>G | CA338470309 | C1orf167,MTHFR | c.3482C>G (p.Ser1161Ter) c.3983C>G (p.Ser1328Ter) c.*2397G>C (n.*2397G>C) c.2118C>G c.4491G>C (n.4491G>C) c.4040C>G (p.Ser1347Ter) c.1482C>G c.1218C>G n.277C>G c.4118C>G (p.Ser1373Ter) c.4064C>G (p.Ser1355Ter) c.4024C>G (p.His1342Asp) c.3710C>G (p.Ser1237Ter) c.2399C>G (p.Ser800Ter) | gnomAD v4 |
1 | g.11788283C>T | CA338470310 | C1orf167,MTHFR | c.3482C>T (p.Ser1161Leu) c.3983C>T (p.Ser1328Leu) c.*2397G>A (n.*2397G>A) c.2118C>T c.4491G>A (n.4491G>A) c.4040C>T (p.Ser1347Leu) c.1482C>T c.1218C>T n.277C>T c.4118C>T (p.Ser1373Leu) c.4064C>T (p.Ser1355Leu) c.4024C>T (p.His1342Tyr) c.3710C>T (p.Ser1237Leu) c.2399C>T (p.Ser800Leu) | |
1 | g.11788284A= | CA1153787222 | C1orf167,MTHFR | c.3483A= (p.Ser1161=) c.3984A= (p.Ser1328=) c.*2396T= (n.*2396T=) c.2119A= c.4490T= (n.4490T=) c.4041A= (p.Ser1347=) c.1483A= c.1219A= n.278A= c.4119A= (p.Ser1373=) c.4065A= (p.Ser1355=) c.4025A= (p.His1342=) c.3711A= (p.Ser1237=) c.2400A= (p.Ser800=) | |
1 | g.11788284A>C | CA416361842 | C1orf167,MTHFR | c.3483A>C (p.Ser1161=) c.3984A>C (p.Ser1328=) c.*2396T>G (n.*2396T>G) c.2119A>C c.4490T>G (n.4490T>G) c.4041A>C (p.Ser1347=) c.1483A>C c.1219A>C n.278A>C c.4119A>C (p.Ser1373=) c.4065A>C (p.Ser1355=) c.4025A>C (p.His1342Pro) c.3711A>C (p.Ser1237=) c.2400A>C (p.Ser800=) | |
1 | g.11788284A>G | CA416361843 | C1orf167,MTHFR | c.3483A>G (p.Ser1161=) c.3984A>G (p.Ser1328=) c.*2396T>C (n.*2396T>C) c.2119A>G c.4490T>C (n.4490T>C) c.4041A>G (p.Ser1347=) c.1483A>G c.1219A>G n.278A>G c.4119A>G (p.Ser1373=) c.4065A>G (p.Ser1355=) c.4025A>G (p.His1342Arg) c.3711A>G (p.Ser1237=) c.2400A>G (p.Ser800=) | dbSNP |
1 | g.11788284A>T | CA416361844 | C1orf167,MTHFR | c.3483A>T (p.Ser1161=) c.3984A>T (p.Ser1328=) c.*2396T>A (n.*2396T>A) c.2119A>T c.4490T>A (n.4490T>A) c.4041A>T (p.Ser1347=) c.1483A>T c.1219A>T n.278A>T c.4119A>T (p.Ser1373=) c.4065A>T (p.Ser1355=) c.4025A>T (p.His1342Leu) c.3711A>T (p.Ser1237=) c.2400A>T (p.Ser800=) | |
1 | g.11788285C>A | CA416361847 | C1orf167,MTHFR | c.3484C>A (p.Arg1162=) c.3985C>A (p.Arg1329=) c.*2395G>T (n.*2395G>T) c.2120C>A c.4489G>T (n.4489G>T) c.4042C>A (p.Arg1348=) c.1484C>A c.1220C>A n.279C>A c.4120C>A (p.Arg1374=) c.4066C>A (p.Arg1356=) c.4026C>A (p.His1342Gln) c.3712C>A (p.Arg1238=) c.2401C>A (p.Arg801=) | |
1 | g.11788285C= | CA1153787225 | C1orf167,MTHFR | c.3484C= (p.Arg1162=) c.3985C= (p.Arg1329=) c.*2395G= (n.*2395G=) c.2120C= c.4489G= (n.4489G=) c.4042C= (p.Arg1348=) c.1484C= c.1220C= n.279C= c.4120C= (p.Arg1374=) c.4066C= (p.Arg1356=) c.4026C= (p.His1342=) c.3712C= (p.Arg1238=) c.2401C= (p.Arg801=) | |
1 | g.11788285C>G | CA338470311 | C1orf167,MTHFR | c.3484C>G (p.Arg1162Gly) c.3985C>G (p.Arg1329Gly) c.*2395G>C (n.*2395G>C) c.2120C>G c.4489G>C (n.4489G>C) c.4042C>G (p.Arg1348Gly) c.1484C>G c.1220C>G n.279C>G c.4120C>G (p.Arg1374Gly) c.4066C>G (p.Arg1356Gly) c.4026C>G (p.His1342Gln) c.3712C>G (p.Arg1238Gly) c.2401C>G (p.Arg801Gly) | |
1 | g.11788285C>T | CA17996285 | C1orf167,MTHFR | c.3484C>T (p.Arg1162Trp) c.3985C>T (p.Arg1329Trp) c.*2395G>A (n.*2395G>A) c.2120C>T c.4489G>A (n.4489G>A) c.4042C>T (p.Arg1348Trp) c.1484C>T c.1220C>T n.279C>T c.4120C>T (p.Arg1374Trp) c.4066C>T (p.Arg1356Trp) c.4026C>T (p.His1342=) c.3712C>T (p.Arg1238Trp) c.2401C>T (p.Arg801Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.11788286G>A | CA17996287 | C1orf167,MTHFR | c.3485G>A (p.Arg1162Gln) c.3986G>A (p.Arg1329Gln) c.*2394C>T (n.*2394C>T) c.2121G>A c.4488C>T (n.4488C>T) c.4043G>A (p.Arg1348Gln) c.1485G>A c.1221G>A n.280G>A c.4121G>A (p.Arg1374Gln) c.4067G>A (p.Arg1356Gln) c.4027G>A (p.Gly1343Arg) c.3713G>A (p.Arg1238Gln) c.2402G>A (p.Arg801Gln) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11788286G>C | CA338470312 | C1orf167,MTHFR | c.3485G>C (p.Arg1162Pro) c.3986G>C (p.Arg1329Pro) c.*2394C>G (n.*2394C>G) c.2121G>C c.4488C>G (n.4488C>G) c.4043G>C (p.Arg1348Pro) c.1485G>C c.1221G>C n.280G>C c.4121G>C (p.Arg1374Pro) c.4067G>C (p.Arg1356Pro) c.4027G>C (p.Gly1343Arg) c.3713G>C (p.Arg1238Pro) c.2402G>C (p.Arg801Pro) | gnomAD v4 |
1 | g.11788286G= | CA1153787228 | C1orf167,MTHFR | c.3485G= (p.Arg1162=) c.3986G= (p.Arg1329=) c.*2394C= (n.*2394C=) c.2121G= c.4488C= (n.4488C=) c.4043G= (p.Arg1348=) c.1485G= c.1221G= n.280G= c.4121G= (p.Arg1374=) c.4067G= (p.Arg1356=) c.4027G= (p.Gly1343=) c.3713G= (p.Arg1238=) c.2402G= (p.Arg801=) | |
1 | g.11788286G>T | CA338470313 | C1orf167,MTHFR | c.3485G>T (p.Arg1162Leu) c.3986G>T (p.Arg1329Leu) c.*2394C>A (n.*2394C>A) c.2121G>T c.4488C>A (n.4488C>A) c.4043G>T (p.Arg1348Leu) c.1485G>T c.1221G>T n.280G>T c.4121G>T (p.Arg1374Leu) c.4067G>T (p.Arg1356Leu) c.4027G>T (p.Gly1343Trp) c.3713G>T (p.Arg1238Leu) c.2402G>T (p.Arg801Leu) | gnomAD v4 |
1 | g.11788287G>A | CA416361849 | C1orf167,MTHFR | c.3486G>A (p.Arg1162=) c.3987G>A (p.Arg1329=) c.*2393C>T (n.*2393C>T) c.2122G>A c.4487C>T (n.4487C>T) c.4044G>A (p.Arg1348=) c.1486G>A c.1222G>A n.281G>A c.4122G>A (p.Arg1374=) c.4068G>A (p.Arg1356=) c.4028G>A (p.Gly1343Glu) c.3714G>A (p.Arg1238=) c.2403G>A (p.Arg801=) | dbSNP |
1 | g.11788287G>C | CA416361852 | C1orf167,MTHFR | c.3486G>C (p.Arg1162=) c.3987G>C (p.Arg1329=) c.*2393C>G (n.*2393C>G) c.2122G>C c.4487C>G (n.4487C>G) c.4044G>C (p.Arg1348=) c.1486G>C c.1222G>C n.281G>C c.4122G>C (p.Arg1374=) c.4068G>C (p.Arg1356=) c.4028G>C (p.Gly1343Ala) c.3714G>C (p.Arg1238=) c.2403G>C (p.Arg801=) | |
1 | g.11788287G= | CA1153787229 | C1orf167,MTHFR | c.3486G= (p.Arg1162=) c.3987G= (p.Arg1329=) c.*2393C= (n.*2393C=) c.2122G= c.4487C= (n.4487C=) c.4044G= (p.Arg1348=) c.1486G= c.1222G= n.281G= c.4122G= (p.Arg1374=) c.4068G= (p.Arg1356=) c.4028G= (p.Gly1343=) c.3714G= (p.Arg1238=) c.2403G= (p.Arg801=) | |
1 | g.11788287G>T | CA416361851 | C1orf167,MTHFR | c.3486G>T (p.Arg1162=) c.3987G>T (p.Arg1329=) c.*2393C>A (n.*2393C>A) c.2122G>T c.4487C>A (n.4487C>A) c.4044G>T (p.Arg1348=) c.1486G>T c.1222G>T n.281G>T c.4122G>T (p.Arg1374=) c.4068G>T (p.Arg1356=) c.4028G>T (p.Gly1343Val) c.3714G>T (p.Arg1238=) c.2403G>T (p.Arg801=) | |
1 | g.11788288G>A | CA338470314 | C1orf167,MTHFR | c.3487G>A (p.Ala1163Thr) c.3988G>A (p.Ala1330Thr) c.*2392C>T (n.*2392C>T) c.2123G>A c.4486C>T (n.4486C>T) c.4045G>A (p.Ala1349Thr) c.1487G>A c.1223G>A n.282G>A c.4123G>A (p.Ala1375Thr) c.4069G>A (p.Ala1357Thr) c.4029G>A (p.Gly1343=) c.3715G>A (p.Ala1239Thr) c.2404G>A (p.Ala802Thr) | |
1 | g.11788288G>C | CA338470315 | C1orf167,MTHFR | c.3487G>C (p.Ala1163Pro) c.3988G>C (p.Ala1330Pro) c.*2392C>G (n.*2392C>G) c.2123G>C c.4486C>G (n.4486C>G) c.4045G>C (p.Ala1349Pro) c.1487G>C c.1223G>C n.282G>C c.4123G>C (p.Ala1375Pro) c.4069G>C (p.Ala1357Pro) c.4029G>C (p.Gly1343=) c.3715G>C (p.Ala1239Pro) c.2404G>C (p.Ala802Pro) | |
1 | g.11788288G>T | CA338470316 | C1orf167,MTHFR | c.3487G>T (p.Ala1163Ser) c.3988G>T (p.Ala1330Ser) c.*2392C>A (n.*2392C>A) c.2123G>T c.4486C>A (n.4486C>A) c.4045G>T (p.Ala1349Ser) c.1487G>T c.1223G>T n.282G>T c.4123G>T (p.Ala1375Ser) c.4069G>T (p.Ala1357Ser) c.4029G>T (p.Gly1343=) c.3715G>T (p.Ala1239Ser) c.2404G>T (p.Ala802Ser) | COSMIC COSMIC |
1 | g.11788289C>A | CA338470320 | C1orf167,MTHFR | c.3488C>A (p.Ala1163Asp) c.3989C>A (p.Ala1330Asp) c.*2391G>T (n.*2391G>T) c.2124C>A c.4485G>T (n.4485G>T) c.4046C>A (p.Ala1349Asp) c.1488C>A c.1224C>A n.283C>A c.4124C>A (p.Ala1375Asp) c.4070C>A (p.Ala1357Asp) c.4030C>A (p.Leu1344Met) c.3716C>A (p.Ala1239Asp) c.2405C>A (p.Ala802Asp) | gnomAD v4 |
1 | g.11788289C= | CA1153787231 | C1orf167,MTHFR | c.3488C= (p.Ala1163=) c.3989C= (p.Ala1330=) c.*2391G= (n.*2391G=) c.2124C= c.4485G= (n.4485G=) c.4046C= (p.Ala1349=) c.1488C= c.1224C= n.283C= c.4124C= (p.Ala1375=) c.4070C= (p.Ala1357=) c.4030C= (p.Leu1344=) c.3716C= (p.Ala1239=) c.2405C= (p.Ala802=) | |
1 | g.11788289C>G | CA338470319 | C1orf167,MTHFR | c.3488C>G (p.Ala1163Gly) c.3989C>G (p.Ala1330Gly) c.*2391G>C (n.*2391G>C) c.2124C>G c.4485G>C (n.4485G>C) c.4046C>G (p.Ala1349Gly) c.1488C>G c.1224C>G n.283C>G c.4124C>G (p.Ala1375Gly) c.4070C>G (p.Ala1357Gly) c.4030C>G (p.Leu1344Val) c.3716C>G (p.Ala1239Gly) c.2405C>G (p.Ala802Gly) | |
1 | g.11788289C>T | CA338470318 | C1orf167,MTHFR | c.3488C>T (p.Ala1163Val) c.3989C>T (p.Ala1330Val) c.*2391G>A (n.*2391G>A) c.2124C>T c.4485G>A (n.4485G>A) c.4046C>T (p.Ala1349Val) c.1488C>T c.1224C>T n.283C>T c.4124C>T (p.Ala1375Val) c.4070C>T (p.Ala1357Val) c.4030C>T (p.Leu1344=) c.3716C>T (p.Ala1239Val) c.2405C>T (p.Ala802Val) | dbSNP gnomAD v4 |
1 | g.11788290T>A | CA416118998 | C1orf167,MTHFR | c.3489T>A (p.Ala1163=) c.3990T>A (p.Ala1330=) c.*2390A>T (n.*2390A>T) c.2125T>A c.4484A>T (n.4484A>T) c.4047T>A (p.Ala1349=) c.1489T>A c.1225T>A n.284T>A c.4125T>A (p.Ala1375=) c.4071T>A (p.Ala1357=) c.4031T>A (p.Leu1344Gln) c.3717T>A (p.Ala1239=) c.2406T>A (p.Ala802=) | gnomAD v4 |
1 | g.11788290T>C | CA416118997 | C1orf167,MTHFR | c.3489T>C (p.Ala1163=) c.3990T>C (p.Ala1330=) c.*2390A>G (n.*2390A>G) c.2125T>C c.4484A>G (n.4484A>G) c.4047T>C (p.Ala1349=) c.1489T>C c.1225T>C n.284T>C c.4125T>C (p.Ala1375=) c.4071T>C (p.Ala1357=) c.4031T>C (p.Leu1344Pro) c.3717T>C (p.Ala1239=) c.2406T>C (p.Ala802=) | |
1 | g.11788290T>G | CA416118996 | C1orf167,MTHFR | c.3489T>G (p.Ala1163=) c.3990T>G (p.Ala1330=) c.*2390A>C (n.*2390A>C) c.2125T>G c.4484A>C (n.4484A>C) c.4047T>G (p.Ala1349=) c.1489T>G c.1225T>G n.284T>G c.4125T>G (p.Ala1375=) c.4071T>G (p.Ala1357=) c.4031T>G (p.Leu1344Arg) c.3717T>G (p.Ala1239=) c.2406T>G (p.Ala802=) | |
1 | g.11788291G>A | CA338470321 | C1orf167,MTHFR | c.3490G>A (p.Ala1164Thr) c.3991G>A (p.Ala1331Thr) c.*2389C>T (n.*2389C>T) c.2126G>A c.4483C>T (n.4483C>T) c.4048G>A (p.Ala1350Thr) c.1490G>A c.1226G>A n.285G>A c.4126G>A (p.Ala1376Thr) c.4072G>A (p.Ala1358Thr) c.4032G>A (p.Leu1344=) c.3718G>A (p.Ala1240Thr) c.2407G>A (p.Ala803Thr) | |
1 | g.11788291G>C | CA338470322 | C1orf167,MTHFR | c.3490G>C (p.Ala1164Pro) c.3991G>C (p.Ala1331Pro) c.*2389C>G (n.*2389C>G) c.2126G>C c.4483C>G (n.4483C>G) c.4048G>C (p.Ala1350Pro) c.1490G>C c.1226G>C n.285G>C c.4126G>C (p.Ala1376Pro) c.4072G>C (p.Ala1358Pro) c.4032G>C (p.Leu1344=) c.3718G>C (p.Ala1240Pro) c.2407G>C (p.Ala803Pro) | |
1 | g.11788291G= | CA1153787233 | C1orf167,MTHFR | c.3490G= (p.Ala1164=) c.3991G= (p.Ala1331=) c.*2389C= (n.*2389C=) c.2126G= c.4483C= (n.4483C=) c.4048G= (p.Ala1350=) c.1490G= c.1226G= n.285G= c.4126G= (p.Ala1376=) c.4072G= (p.Ala1358=) c.4032G= (p.Leu1344=) c.3718G= (p.Ala1240=) c.2407G= (p.Ala803=) | |
1 | g.11788291G>T | CA338470323 | C1orf167,MTHFR | c.3490G>T (p.Ala1164Ser) c.3991G>T (p.Ala1331Ser) c.*2389C>A (n.*2389C>A) c.2126G>T c.4483C>A (n.4483C>A) c.4048G>T (p.Ala1350Ser) c.1490G>T c.1226G>T n.285G>T c.4126G>T (p.Ala1376Ser) c.4072G>T (p.Ala1358Ser) c.4032G>T (p.Leu1344=) c.3718G>T (p.Ala1240Ser) c.2407G>T (p.Ala803Ser) | dbSNP |
1 | g.11788292C>A | CA338470324 | C1orf167,MTHFR | c.3491C>A (p.Ala1164Glu) c.3992C>A (p.Ala1331Glu) c.*2388G>T (n.*2388G>T) c.2127C>A c.4482G>T (n.4482G>T) c.4049C>A (p.Ala1350Glu) c.1491C>A c.1227C>A n.286C>A c.4127C>A (p.Ala1376Glu) c.4073C>A (p.Ala1358Glu) c.4033C>A (p.Arg1345=) c.3719C>A (p.Ala1240Glu) c.2408C>A (p.Ala803Glu) | gnomAD v4 |
1 | g.11788292C= | CA1146864323 | C1orf167,MTHFR | c.3491C= (p.Ala1164=) c.3992C= (p.Ala1331=) c.*2388G= (n.*2388G=) c.2127C= c.4482G= (n.4482G=) c.4049C= (p.Ala1350=) c.1491C= c.1227C= n.286C= c.4127C= (p.Ala1376=) c.4073C= (p.Ala1358=) c.4033C= (p.Arg1345=) c.3719C= (p.Ala1240=) c.2408C= (p.Ala803=) | |
1 | g.11788292C>G | CA338470325 | C1orf167,MTHFR | c.3491C>G (p.Ala1164Gly) c.3992C>G (p.Ala1331Gly) c.*2388G>C (n.*2388G>C) c.2127C>G c.4482G>C (n.4482G>C) c.4049C>G (p.Ala1350Gly) c.1491C>G c.1227C>G n.286C>G c.4127C>G (p.Ala1376Gly) c.4073C>G (p.Ala1358Gly) c.4033C>G (p.Arg1345Gly) c.3719C>G (p.Ala1240Gly) c.2408C>G (p.Ala803Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788292C>T | CA17997364 | C1orf167,MTHFR | c.3491C>T (p.Ala1164Val) c.3992C>T (p.Ala1331Val) c.*2388G>A (n.*2388G>A) c.2127C>T c.4482G>A (n.4482G>A) c.4049C>T (p.Ala1350Val) c.1491C>T c.1227C>T n.286C>T c.4127C>T (p.Ala1376Val) c.4073C>T (p.Ala1358Val) c.4033C>T (p.Arg1345Trp) c.3719C>T (p.Ala1240Val) c.2408C>T (p.Ala803Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788293G>A | CA595083 | C1orf167,MTHFR | c.3492G>A (p.Ala1164=) c.3993G>A (p.Ala1331=) c.*2387C>T (n.*2387C>T) c.2128G>A c.4481C>T (n.4481C>T) c.4050G>A (p.Ala1350=) c.1492G>A c.1228G>A n.287G>A c.4128G>A (p.Ala1376=) c.4074G>A (p.Ala1358=) c.4034G>A (p.Arg1345Gln) c.3720G>A (p.Ala1240=) c.2409G>A (p.Ala803=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788293G>C | CA416119002 | C1orf167,MTHFR | c.3492G>C (p.Ala1164=) c.3993G>C (p.Ala1331=) c.*2387C>G (n.*2387C>G) c.2128G>C c.4481C>G (n.4481C>G) c.4050G>C (p.Ala1350=) c.1492G>C c.1228G>C n.287G>C c.4128G>C (p.Ala1376=) c.4074G>C (p.Ala1358=) c.4034G>C (p.Arg1345Pro) c.3720G>C (p.Ala1240=) c.2409G>C (p.Ala803=) | |
1 | g.11788293G= | CA1143968514 | C1orf167,MTHFR | c.3492G= (p.Ala1164=) c.3993G= (p.Ala1331=) c.*2387C= (n.*2387C=) c.2128G= c.4481C= (n.4481C=) c.4050G= (p.Ala1350=) c.1492G= c.1228G= n.287G= c.4128G= (p.Ala1376=) c.4074G= (p.Ala1358=) c.4034G= (p.Arg1345=) c.3720G= (p.Ala1240=) c.2409G= (p.Ala803=) | |
1 | g.11788293G>T | CA416119000 | C1orf167,MTHFR | c.3492G>T (p.Ala1164=) c.3993G>T (p.Ala1331=) c.*2387C>A (n.*2387C>A) c.2128G>T c.4481C>A (n.4481C>A) c.4050G>T (p.Ala1350=) c.1492G>T c.1228G>T n.287G>T c.4128G>T (p.Ala1376=) c.4074G>T (p.Ala1358=) c.4034G>T (p.Arg1345Leu) c.3720G>T (p.Ala1240=) c.2409G>T (p.Ala803=) | |
1 | g.11788294G>A | CA338470326 | C1orf167,MTHFR | c.3493G>A (p.Gly1165Arg) c.3994G>A (p.Gly1332Arg) c.*2386C>T (n.*2386C>T) c.2129G>A c.4480C>T (n.4480C>T) c.4051G>A (p.Gly1351Arg) c.1493G>A c.1229G>A n.288G>A c.4129G>A (p.Gly1377Arg) c.4075G>A (p.Gly1359Arg) c.4035G>A (p.Arg1345=) c.3721G>A (p.Gly1241Arg) c.2410G>A (p.Gly804Arg) | dbSNP |
1 | g.11788294G>C | CA338470327 | C1orf167,MTHFR | c.3493G>C (p.Gly1165Arg) c.3994G>C (p.Gly1332Arg) c.*2386C>G (n.*2386C>G) c.2129G>C c.4480C>G (n.4480C>G) c.4051G>C (p.Gly1351Arg) c.1493G>C c.1229G>C n.288G>C c.4129G>C (p.Gly1377Arg) c.4075G>C (p.Gly1359Arg) c.4035G>C (p.Arg1345=) c.3721G>C (p.Gly1241Arg) c.2410G>C (p.Gly804Arg) | |
1 | g.11788294G>T | CA338470328 | C1orf167,MTHFR | c.3493G>T (p.Gly1165Trp) c.3994G>T (p.Gly1332Trp) c.*2386C>A (n.*2386C>A) c.2129G>T c.4480C>A (n.4480C>A) c.4051G>T (p.Gly1351Trp) c.1493G>T c.1229G>T n.288G>T c.4129G>T (p.Gly1377Trp) c.4075G>T (p.Gly1359Trp) c.4035G>T (p.Arg1345=) c.3721G>T (p.Gly1241Trp) c.2410G>T (p.Gly804Trp) | |
1 | g.11788295G>A | CA338470329 | C1orf167,MTHFR | c.3494G>A (p.Gly1165Glu) c.3995G>A (p.Gly1332Glu) c.*2385C>T (n.*2385C>T) c.2130G>A c.4479C>T (n.4479C>T) c.4052G>A (p.Gly1351Glu) c.1494G>A c.1230G>A n.289G>A c.4130G>A (p.Gly1377Glu) c.4076G>A (p.Gly1359Glu) c.4036G>A (p.Gly1346Ser) c.3722G>A (p.Gly1241Glu) c.2411G>A (p.Gly804Glu) | |
1 | g.11788295G>C | CA338470330 | C1orf167,MTHFR | c.3494G>C (p.Gly1165Ala) c.3995G>C (p.Gly1332Ala) c.*2385C>G (n.*2385C>G) c.2130G>C c.4479C>G (n.4479C>G) c.4052G>C (p.Gly1351Ala) c.1494G>C c.1230G>C n.289G>C c.4130G>C (p.Gly1377Ala) c.4076G>C (p.Gly1359Ala) c.4036G>C (p.Gly1346Arg) c.3722G>C (p.Gly1241Ala) c.2411G>C (p.Gly804Ala) | |
1 | g.11788295G>T | CA338470331 | C1orf167,MTHFR | c.3494G>T (p.Gly1165Val) c.3995G>T (p.Gly1332Val) c.*2385C>A (n.*2385C>A) c.2130G>T c.4479C>A (n.4479C>A) c.4052G>T (p.Gly1351Val) c.1494G>T c.1230G>T n.289G>T c.4130G>T (p.Gly1377Val) c.4076G>T (p.Gly1359Val) c.4036G>T (p.Gly1346Cys) c.3722G>T (p.Gly1241Val) c.2411G>T (p.Gly804Val) | |
1 | g.11788296G>A | CA416119003 | C1orf167,MTHFR | c.3495G>A (p.Gly1165=) c.3996G>A (p.Gly1332=) c.*2384C>T (n.*2384C>T) c.2131G>A c.4478C>T (n.4478C>T) c.4053G>A (p.Gly1351=) c.1495G>A c.1231G>A n.290G>A c.4131G>A (p.Gly1377=) c.4077G>A (p.Gly1359=) c.4037G>A (p.Gly1346Asp) c.3723G>A (p.Gly1241=) c.2412G>A (p.Gly804=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788296G>C | CA595084 | C1orf167,MTHFR | c.3495G>C (p.Gly1165=) c.3996G>C (p.Gly1332=) c.*2384C>G (n.*2384C>G) c.2131G>C c.4478C>G (n.4478C>G) c.4053G>C (p.Gly1351=) c.1495G>C c.1231G>C n.290G>C c.4131G>C (p.Gly1377=) c.4077G>C (p.Gly1359=) c.4037G>C (p.Gly1346Ala) c.3723G>C (p.Gly1241=) c.2412G>C (p.Gly804=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11788296G= | CA1153787239 | C1orf167,MTHFR | c.3495G= (p.Gly1165=) c.3996G= (p.Gly1332=) c.*2384C= (n.*2384C=) c.2131G= c.4478C= (n.4478C=) c.4053G= (p.Gly1351=) c.1495G= c.1231G= n.290G= c.4131G= (p.Gly1377=) c.4077G= (p.Gly1359=) c.4037G= (p.Gly1346=) c.3723G= (p.Gly1241=) c.2412G= (p.Gly804=) | |
1 | g.11788296G>T | CA416119004 | C1orf167,MTHFR | c.3495G>T (p.Gly1165=) c.3996G>T (p.Gly1332=) c.*2384C>A (n.*2384C>A) c.2131G>T c.4478C>A (n.4478C>A) c.4053G>T (p.Gly1351=) c.1495G>T c.1231G>T n.290G>T c.4131G>T (p.Gly1377=) c.4077G>T (p.Gly1359=) c.4037G>T (p.Gly1346Val) c.3723G>T (p.Gly1241=) c.2412G>T (p.Gly804=) | |
1 | g.11788297T>A | CA338470333 | C1orf167,MTHFR | c.3496T>A (p.Phe1166Ile) c.3997T>A (p.Phe1333Ile) c.*2383A>T (n.*2383A>T) c.2132T>A c.4477A>T (n.4477A>T) c.4054T>A (p.Phe1352Ile) c.1496T>A c.1232T>A n.291T>A c.4132T>A (p.Phe1378Ile) c.4078T>A (p.Phe1360Ile) c.4038T>A (p.Gly1346=) c.3724T>A (p.Phe1242Ile) c.2413T>A (p.Phe805Ile) | gnomAD v4 |
1 | g.11788297T>C | CA338470332 | C1orf167,MTHFR | c.3496T>C (p.Phe1166Leu) c.3997T>C (p.Phe1333Leu) c.*2383A>G (n.*2383A>G) c.2132T>C c.4477A>G (n.4477A>G) c.4054T>C (p.Phe1352Leu) c.1496T>C c.1232T>C n.291T>C c.4132T>C (p.Phe1378Leu) c.4078T>C (p.Phe1360Leu) c.4038T>C (p.Gly1346=) c.3724T>C (p.Phe1242Leu) c.2413T>C (p.Phe805Leu) | gnomAD v4 |
1 | g.11788297T>G | CA338470334 | C1orf167,MTHFR | c.3496T>G (p.Phe1166Val) c.3997T>G (p.Phe1333Val) c.*2383A>C (n.*2383A>C) c.2132T>G c.4477A>C (n.4477A>C) c.4054T>G (p.Phe1352Val) c.1496T>G c.1232T>G n.291T>G c.4132T>G (p.Phe1378Val) c.4078T>G (p.Phe1360Val) c.4038T>G (p.Gly1346=) c.3724T>G (p.Phe1242Val) c.2413T>G (p.Phe805Val) | |
1 | g.11788298T>A | CA338470335 | C1orf167,MTHFR | c.3497T>A (p.Phe1166Tyr) c.3998T>A (p.Phe1333Tyr) c.*2382A>T (n.*2382A>T) c.2133T>A c.4476A>T (n.4476A>T) c.4055T>A (p.Phe1352Tyr) c.1497T>A c.1233T>A n.292T>A c.4133T>A (p.Phe1378Tyr) c.4079T>A (p.Phe1360Tyr) c.4039T>A (p.Ser1347Thr) c.3725T>A (p.Phe1242Tyr) c.2414T>A (p.Phe805Tyr) | |
1 | g.11788298T>C | CA338470337 | C1orf167,MTHFR | c.3497T>C (p.Phe1166Ser) c.3998T>C (p.Phe1333Ser) c.*2382A>G (n.*2382A>G) c.2133T>C c.4476A>G (n.4476A>G) c.4055T>C (p.Phe1352Ser) c.1497T>C c.1233T>C n.292T>C c.4133T>C (p.Phe1378Ser) c.4079T>C (p.Phe1360Ser) c.4039T>C (p.Ser1347Pro) c.3725T>C (p.Phe1242Ser) c.2414T>C (p.Phe805Ser) | |
1 | g.11788298T>G | CA338470336 | C1orf167,MTHFR | c.3497T>G (p.Phe1166Cys) c.3998T>G (p.Phe1333Cys) c.*2382A>C (n.*2382A>C) c.2133T>G c.4476A>C (n.4476A>C) c.4055T>G (p.Phe1352Cys) c.1497T>G c.1233T>G n.292T>G c.4133T>G (p.Phe1378Cys) c.4079T>G (p.Phe1360Cys) c.4039T>G (p.Ser1347Ala) c.3725T>G (p.Phe1242Cys) c.2414T>G (p.Phe805Cys) | gnomAD v4 |
1 | g.11788299C>A | CA595085 | C1orf167,MTHFR | c.3498C>A (p.Phe1166Leu) c.3999C>A (p.Phe1333Leu) c.*2381G>T (n.*2381G>T) c.2134C>A c.4475G>T (n.4475G>T) c.4056C>A (p.Phe1352Leu) c.1498C>A c.1234C>A n.293C>A c.4134C>A (p.Phe1378Leu) c.4080C>A (p.Phe1360Leu) c.4040C>A (p.Ser1347Tyr) c.3726C>A (p.Phe1242Leu) c.2415C>A (p.Phe805Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788299C= | CA1153787244 | C1orf167,MTHFR | c.3498C= (p.Phe1166=) c.3999C= (p.Phe1333=) c.*2381G= (n.*2381G=) c.2134C= c.4475G= (n.4475G=) c.4056C= (p.Phe1352=) c.1498C= c.1234C= n.293C= c.4134C= (p.Phe1378=) c.4080C= (p.Phe1360=) c.4040C= (p.Ser1347=) c.3726C= (p.Phe1242=) c.2415C= (p.Phe805=) | |
1 | g.11788299C>G | CA338470338 | C1orf167,MTHFR | c.3498C>G (p.Phe1166Leu) c.3999C>G (p.Phe1333Leu) c.*2381G>C (n.*2381G>C) c.2134C>G c.4475G>C (n.4475G>C) c.4056C>G (p.Phe1352Leu) c.1498C>G c.1234C>G n.293C>G c.4134C>G (p.Phe1378Leu) c.4080C>G (p.Phe1360Leu) c.4040C>G (p.Ser1347Cys) c.3726C>G (p.Phe1242Leu) c.2415C>G (p.Phe805Leu) | |
1 | g.11788299C>T | CA416119007 | C1orf167,MTHFR | c.3498C>T (p.Phe1166=) c.3999C>T (p.Phe1333=) c.*2381G>A (n.*2381G>A) c.2134C>T c.4475G>A (n.4475G>A) c.4056C>T (p.Phe1352=) c.1498C>T c.1234C>T n.293C>T c.4134C>T (p.Phe1378=) c.4080C>T (p.Phe1360=) c.4040C>T (p.Ser1347Phe) c.3726C>T (p.Phe1242=) c.2415C>T (p.Phe805=) | |
1 | g.11788300C>A | CA338470339 | C1orf167,MTHFR | c.3499C>A (p.Pro1167Thr) c.4000C>A (p.Pro1334Thr) c.*2380G>T (n.*2380G>T) c.2135C>A c.4474G>T (n.4474G>T) c.4057C>A (p.Pro1353Thr) c.1499C>A c.1235C>A n.294C>A c.4135C>A (p.Pro1379Thr) c.4081C>A (p.Pro1361Thr) c.4041C>A (p.Ser1347=) c.3727C>A (p.Pro1243Thr) c.2416C>A (p.Pro806Thr) | gnomAD v4 |
1 | g.11788300C>G | CA338470341 | C1orf167,MTHFR | c.3499C>G (p.Pro1167Ala) c.4000C>G (p.Pro1334Ala) c.*2380G>C (n.*2380G>C) c.2135C>G c.4474G>C (n.4474G>C) c.4057C>G (p.Pro1353Ala) c.1499C>G c.1235C>G n.294C>G c.4135C>G (p.Pro1379Ala) c.4081C>G (p.Pro1361Ala) c.4041C>G (p.Ser1347=) c.3727C>G (p.Pro1243Ala) c.2416C>G (p.Pro806Ala) | |
1 | g.11788300C>T | CA338470340 | C1orf167,MTHFR | c.3499C>T (p.Pro1167Ser) c.4000C>T (p.Pro1334Ser) c.*2380G>A (n.*2380G>A) c.2135C>T c.4474G>A (n.4474G>A) c.4057C>T (p.Pro1353Ser) c.1499C>T c.1235C>T n.294C>T c.4135C>T (p.Pro1379Ser) c.4081C>T (p.Pro1361Ser) c.4041C>T (p.Ser1347=) c.3727C>T (p.Pro1243Ser) c.2416C>T (p.Pro806Ser) | |
1 | g.11788301C>A | CA338470342 | C1orf167,MTHFR | c.3500C>A (p.Pro1167Gln) c.4001C>A (p.Pro1334Gln) c.*2379G>T (n.*2379G>T) c.2136C>A c.4473G>T (n.4473G>T) c.4058C>A (p.Pro1353Gln) c.1500C>A c.1236C>A n.295C>A c.4136C>A (p.Pro1379Gln) c.4082C>A (p.Pro1361Gln) c.4042C>A (p.Gln1348Lys) c.3728C>A (p.Pro1243Gln) c.2417C>A (p.Pro806Gln) | |
1 | g.11788301C>G | CA338470343 | C1orf167,MTHFR | c.3500C>G (p.Pro1167Arg) c.4001C>G (p.Pro1334Arg) c.*2379G>C (n.*2379G>C) c.2136C>G c.4473G>C (n.4473G>C) c.4058C>G (p.Pro1353Arg) c.1500C>G c.1236C>G n.295C>G c.4136C>G (p.Pro1379Arg) c.4082C>G (p.Pro1361Arg) c.4042C>G (p.Gln1348Glu) c.3728C>G (p.Pro1243Arg) c.2417C>G (p.Pro806Arg) | |
1 | g.11788301C>T | CA338470344 | C1orf167,MTHFR | c.3500C>T (p.Pro1167Leu) c.4001C>T (p.Pro1334Leu) c.*2379G>A (n.*2379G>A) c.2136C>T c.4473G>A (n.4473G>A) c.4058C>T (p.Pro1353Leu) c.1500C>T c.1236C>T n.295C>T c.4136C>T (p.Pro1379Leu) c.4082C>T (p.Pro1361Leu) c.4042C>T (p.Gln1348Ter) c.3728C>T (p.Pro1243Leu) c.2417C>T (p.Pro806Leu) | |
1 | g.11788302A= | CA1153787245 | C1orf167,MTHFR | c.3501A= (p.Pro1167=) c.4002A= (p.Pro1334=) c.*2378T= (n.*2378T=) c.2137A= c.4472T= (n.4472T=) c.4059A= (p.Pro1353=) c.1501A= c.1237A= n.296A= c.4137A= (p.Pro1379=) c.4083A= (p.Pro1361=) c.4043A= (p.Gln1348=) c.3729A= (p.Pro1243=) c.2418A= (p.Pro806=) | |
1 | g.11788302A>C | CA416119009 | C1orf167,MTHFR | c.3501A>C (p.Pro1167=) c.4002A>C (p.Pro1334=) c.*2378T>G (n.*2378T>G) c.2137A>C c.4472T>G (n.4472T>G) c.4059A>C (p.Pro1353=) c.1501A>C c.1237A>C n.296A>C c.4137A>C (p.Pro1379=) c.4083A>C (p.Pro1361=) c.4043A>C (p.Gln1348Pro) c.3729A>C (p.Pro1243=) c.2418A>C (p.Pro806=) | |
1 | g.11788302A>G | CA416119010 | C1orf167,MTHFR | c.3501A>G (p.Pro1167=) c.4002A>G (p.Pro1334=) c.*2378T>C (n.*2378T>C) c.2137A>G c.4472T>C (n.4472T>C) c.4059A>G (p.Pro1353=) c.1501A>G c.1237A>G n.296A>G c.4137A>G (p.Pro1379=) c.4083A>G (p.Pro1361=) c.4043A>G (p.Gln1348Arg) c.3729A>G (p.Pro1243=) c.2418A>G (p.Pro806=) | dbSNP |
1 | g.11788302A>T | CA416119012 | C1orf167,MTHFR | c.3501A>T (p.Pro1167=) c.4002A>T (p.Pro1334=) c.*2378T>A (n.*2378T>A) c.2137A>T c.4472T>A (n.4472T>A) c.4059A>T (p.Pro1353=) c.1501A>T c.1237A>T n.296A>T c.4137A>T (p.Pro1379=) c.4083A>T (p.Pro1361=) c.4043A>T (p.Gln1348Leu) c.3729A>T (p.Pro1243=) c.2418A>T (p.Pro806=) | |
1 | g.11788303G>A | CA338470345 | C1orf167,MTHFR | c.3502G>A (p.Ala1168Thr) c.4003G>A (p.Ala1335Thr) c.*2377C>T (n.*2377C>T) c.2138G>A c.4471C>T (n.4471C>T) c.4060G>A (p.Ala1354Thr) c.1502G>A c.1238G>A n.297G>A c.4138G>A (p.Ala1380Thr) c.4084G>A (p.Ala1362Thr) c.4044G>A (p.Gln1348=) c.3730G>A (p.Ala1244Thr) c.2419G>A (p.Ala807Thr) | |
1 | g.11788303G>C | CA338470346 | C1orf167,MTHFR | c.3502G>C (p.Ala1168Pro) c.4003G>C (p.Ala1335Pro) c.*2377C>G (n.*2377C>G) c.2138G>C c.4471C>G (n.4471C>G) c.4060G>C (p.Ala1354Pro) c.1502G>C c.1238G>C n.297G>C c.4138G>C (p.Ala1380Pro) c.4084G>C (p.Ala1362Pro) c.4044G>C (p.Gln1348His) c.3730G>C (p.Ala1244Pro) c.2419G>C (p.Ala807Pro) | |
1 | g.11788303G= | CA1153787248 | C1orf167,MTHFR | c.3502G= (p.Ala1168=) c.4003G= (p.Ala1335=) c.*2377C= (n.*2377C=) c.2138G= c.4471C= (n.4471C=) c.4060G= (p.Ala1354=) c.1502G= c.1238G= n.297G= c.4138G= (p.Ala1380=) c.4084G= (p.Ala1362=) c.4044G= (p.Gln1348=) c.3730G= (p.Ala1244=) c.2419G= (p.Ala807=) | |
1 | g.11788303G>T | CA338470347 | C1orf167,MTHFR | c.3502G>T (p.Ala1168Ser) c.4003G>T (p.Ala1335Ser) c.*2377C>A (n.*2377C>A) c.2138G>T c.4471C>A (n.4471C>A) c.4060G>T (p.Ala1354Ser) c.1502G>T c.1238G>T n.297G>T c.4138G>T (p.Ala1380Ser) c.4084G>T (p.Ala1362Ser) c.4044G>T (p.Gln1348His) c.3730G>T (p.Ala1244Ser) c.2419G>T (p.Ala807Ser) | dbSNP gnomAD v4 |
1 | g.11788305_11788308del | CA2643295738 | C1orf167,MTHFR | c.3504_3507del (p.Gly1169ArgfsTer?) c.4005_4008del (p.Gly1336ArgfsTer?) c.*2374_*2377del (n.*2374_*2377del) c.2140_2143del c.4468_4471del (n.4468_4471del) c.4062_4065del (p.Gly1355ArgfsTer?) c.1504_1507del c.1240_1243del n.299_302del c.4140_4143del (p.Gly1381ArgfsTer?) c.4086_4089del (p.Gly1363ArgfsTer?) c.4046_4049del (p.Gln1349ProfsTer30) c.4046_4049del (p.Gln1349ProfsTer?) c.3732_3735del (p.Gly1245ArgfsTer?) c.2421_2424del (p.Gly808ArgfsTer?) | gnomAD v4 |
1 | g.11788304C>A | CA338470348 | C1orf167,MTHFR | c.3503C>A (p.Ala1168Glu) c.4004C>A (p.Ala1335Glu) c.*2376G>T (n.*2376G>T) c.2139C>A c.4470G>T (n.4470G>T) c.4061C>A (p.Ala1354Glu) c.1503C>A c.1239C>A n.298C>A c.4139C>A (p.Ala1380Glu) c.4085C>A (p.Ala1362Glu) c.4045C>A (p.Gln1349Lys) c.3731C>A (p.Ala1244Glu) c.2420C>A (p.Ala807Glu) | |
1 | g.11788304C>G | CA338470349 | C1orf167,MTHFR | c.3503C>G (p.Ala1168Gly) c.4004C>G (p.Ala1335Gly) c.*2376G>C (n.*2376G>C) c.2139C>G c.4470G>C (n.4470G>C) c.4061C>G (p.Ala1354Gly) c.1503C>G c.1239C>G n.298C>G c.4139C>G (p.Ala1380Gly) c.4085C>G (p.Ala1362Gly) c.4045C>G (p.Gln1349Glu) c.3731C>G (p.Ala1244Gly) c.2420C>G (p.Ala807Gly) | |
1 | g.11788304C>T | CA338470350 | C1orf167,MTHFR | c.3503C>T (p.Ala1168Val) c.4004C>T (p.Ala1335Val) c.*2376G>A (n.*2376G>A) c.2139C>T c.4470G>A (n.4470G>A) c.4061C>T (p.Ala1354Val) c.1503C>T c.1239C>T n.298C>T c.4139C>T (p.Ala1380Val) c.4085C>T (p.Ala1362Val) c.4045C>T (p.Gln1349Ter) c.3731C>T (p.Ala1244Val) c.2420C>T (p.Ala807Val) | |
1 | g.11788305A>C | CA416119013 | C1orf167,MTHFR | c.3504A>C (p.Ala1168=) c.4005A>C (p.Ala1335=) c.*2375T>G (n.*2375T>G) c.2140A>C c.4469T>G (n.4469T>G) c.4062A>C (p.Ala1354=) c.1504A>C c.1240A>C n.299A>C c.4140A>C (p.Ala1380=) c.4086A>C (p.Ala1362=) c.4046A>C (p.Gln1349Pro) c.3732A>C (p.Ala1244=) c.2421A>C (p.Ala807=) | gnomAD v4 |
1 | g.11788305A>G | CA416119014 | C1orf167,MTHFR | c.3504A>G (p.Ala1168=) c.4005A>G (p.Ala1335=) c.*2375T>C (n.*2375T>C) c.2140A>G c.4469T>C (n.4469T>C) c.4062A>G (p.Ala1354=) c.1504A>G c.1240A>G n.299A>G c.4140A>G (p.Ala1380=) c.4086A>G (p.Ala1362=) c.4046A>G (p.Gln1349Arg) c.3732A>G (p.Ala1244=) c.2421A>G (p.Ala807=) | |
1 | g.11788305A>T | CA416119016 | C1orf167,MTHFR | c.3504A>T (p.Ala1168=) c.4005A>T (p.Ala1335=) c.*2375T>A (n.*2375T>A) c.2140A>T c.4469T>A (n.4469T>A) c.4062A>T (p.Ala1354=) c.1504A>T c.1240A>T n.299A>T c.4140A>T (p.Ala1380=) c.4086A>T (p.Ala1362=) c.4046A>T (p.Gln1349Leu) c.3732A>T (p.Ala1244=) c.2421A>T (p.Ala807=) | |
1 | g.11788306G>A | CA17997368 | C1orf167,MTHFR | c.3505G>A (p.Gly1169Ser) c.4006G>A (p.Gly1336Ser) c.*2374C>T (n.*2374C>T) c.2141G>A c.4468C>T (n.4468C>T) c.4063G>A (p.Gly1355Ser) c.1505G>A c.1241G>A n.300G>A c.4141G>A (p.Gly1381Ser) c.4087G>A (p.Gly1363Ser) c.4047G>A (p.Gln1349=) c.3733G>A (p.Gly1245Ser) c.2422G>A (p.Gly808Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11788306G>C | CA338470351 | C1orf167,MTHFR | c.3505G>C (p.Gly1169Arg) c.4006G>C (p.Gly1336Arg) c.*2374C>G (n.*2374C>G) c.2141G>C c.4468C>G (n.4468C>G) c.4063G>C (p.Gly1355Arg) c.1505G>C c.1241G>C n.300G>C c.4141G>C (p.Gly1381Arg) c.4087G>C (p.Gly1363Arg) c.4047G>C (p.Gln1349His) c.3733G>C (p.Gly1245Arg) c.2422G>C (p.Gly808Arg) | dbSNP gnomAD v4 |
1 | g.11788306G= | CA1153787250 | C1orf167,MTHFR | c.3505G= (p.Gly1169=) c.4006G= (p.Gly1336=) c.*2374C= (n.*2374C=) c.2141G= c.4468C= (n.4468C=) c.4063G= (p.Gly1355=) c.1505G= c.1241G= n.300G= c.4141G= (p.Gly1381=) c.4087G= (p.Gly1363=) c.4047G= (p.Gln1349=) c.3733G= (p.Gly1245=) c.2422G= (p.Gly808=) | |
1 | g.11788306G>T | CA338470352 | C1orf167,MTHFR | c.3505G>T (p.Gly1169Cys) c.4006G>T (p.Gly1336Cys) c.*2374C>A (n.*2374C>A) c.2141G>T c.4468C>A (n.4468C>A) c.4063G>T (p.Gly1355Cys) c.1505G>T c.1241G>T n.300G>T c.4141G>T (p.Gly1381Cys) c.4087G>T (p.Gly1363Cys) c.4047G>T (p.Gln1349His) c.3733G>T (p.Gly1245Cys) c.2422G>T (p.Gly808Cys) | gnomAD v4 |
1 | g.11788307G>A | CA338470355 | C1orf167,MTHFR | c.3506G>A (p.Gly1169Asp) c.4007G>A (p.Gly1336Asp) c.*2373C>T (n.*2373C>T) c.2142G>A c.4467C>T (n.4467C>T) c.4064G>A (p.Gly1355Asp) c.1506G>A c.1242G>A n.301G>A c.4142G>A (p.Gly1381Asp) c.4088G>A (p.Gly1363Asp) c.4048G>A (p.Ala1350Thr) c.3734G>A (p.Gly1245Asp) c.2423G>A (p.Gly808Asp) | dbSNP |
1 | g.11788307G>C | CA338470353 | C1orf167,MTHFR | c.3506G>C (p.Gly1169Ala) c.4007G>C (p.Gly1336Ala) c.*2373C>G (n.*2373C>G) c.2142G>C c.4467C>G (n.4467C>G) c.4064G>C (p.Gly1355Ala) c.1506G>C c.1242G>C n.301G>C c.4142G>C (p.Gly1381Ala) c.4088G>C (p.Gly1363Ala) c.4048G>C (p.Ala1350Pro) c.3734G>C (p.Gly1245Ala) c.2423G>C (p.Gly808Ala) | |
1 | g.11788307G= | CA1153787255 | C1orf167,MTHFR | c.3506G= (p.Gly1169=) c.4007G= (p.Gly1336=) c.*2373C= (n.*2373C=) c.2142G= c.4467C= (n.4467C=) c.4064G= (p.Gly1355=) c.1506G= c.1242G= n.301G= c.4142G= (p.Gly1381=) c.4088G= (p.Gly1363=) c.4048G= (p.Ala1350=) c.3734G= (p.Gly1245=) c.2423G= (p.Gly808=) | |
1 | g.11788307G>T | CA338470354 | C1orf167,MTHFR | c.3506G>T (p.Gly1169Val) c.4007G>T (p.Gly1336Val) c.*2373C>A (n.*2373C>A) c.2142G>T c.4467C>A (n.4467C>A) c.4064G>T (p.Gly1355Val) c.1506G>T c.1242G>T n.301G>T c.4142G>T (p.Gly1381Val) c.4088G>T (p.Gly1363Val) c.4048G>T (p.Ala1350Ser) c.3734G>T (p.Gly1245Val) c.2423G>T (p.Gly808Val) | |
1 | g.11788308C>A | CA416119017 | C1orf167,MTHFR | c.3507C>A (p.Gly1169=) c.4008C>A (p.Gly1336=) c.*2372G>T (n.*2372G>T) c.2143C>A c.4466G>T (n.4466G>T) c.4065C>A (p.Gly1355=) c.1507C>A c.1243C>A n.302C>A c.4143C>A (p.Gly1381=) c.4089C>A (p.Gly1363=) c.4049C>A (p.Ala1350Asp) c.3735C>A (p.Gly1245=) c.2424C>A (p.Gly808=) | |
1 | g.11788308C= | CA1153787258 | C1orf167,MTHFR | c.3507C= (p.Gly1169=) c.4008C= (p.Gly1336=) c.*2372G= (n.*2372G=) c.2143C= c.4466G= (n.4466G=) c.4065C= (p.Gly1355=) c.1507C= c.1243C= n.302C= c.4143C= (p.Gly1381=) c.4089C= (p.Gly1363=) c.4049C= (p.Ala1350=) c.3735C= (p.Gly1245=) c.2424C= (p.Gly808=) | |
1 | g.11788308C>G | CA416119019 | C1orf167,MTHFR | c.3507C>G (p.Gly1169=) c.4008C>G (p.Gly1336=) c.*2372G>C (n.*2372G>C) c.2143C>G c.4466G>C (n.4466G>C) c.4065C>G (p.Gly1355=) c.1507C>G c.1243C>G n.302C>G c.4143C>G (p.Gly1381=) c.4089C>G (p.Gly1363=) c.4049C>G (p.Ala1350Gly) c.3735C>G (p.Gly1245=) c.2424C>G (p.Gly808=) | gnomAD v4 |
1 | g.11788308C>T | CA416119018 | C1orf167,MTHFR | c.3507C>T (p.Gly1169=) c.4008C>T (p.Gly1336=) c.*2372G>A (n.*2372G>A) c.2143C>T c.4466G>A (n.4466G>A) c.4065C>T (p.Gly1355=) c.1507C>T c.1243C>T n.302C>T c.4143C>T (p.Gly1381=) c.4089C>T (p.Gly1363=) c.4049C>T (p.Ala1350Val) c.3735C>T (p.Gly1245=) c.2424C>T (p.Gly808=) | dbSNP |
1 | g.11788309C>A | CA338470356 | C1orf167,MTHFR | c.3508C>A (p.Gln1170Lys) c.4009C>A (p.Gln1337Lys) c.*2371G>T (n.*2371G>T) c.2144C>A c.4465G>T (n.4465G>T) c.4066C>A (p.Gln1356Lys) c.1508C>A c.1244C>A n.303C>A c.4144C>A (p.Gln1382Lys) c.4090C>A (p.Gln1364Lys) c.4050C>A (p.Ala1350=) c.3736C>A (p.Gln1246Lys) c.2425C>A (p.Gln809Lys) | |
1 | g.11788309C>G | CA338470357 | C1orf167,MTHFR | c.3508C>G (p.Gln1170Glu) c.4009C>G (p.Gln1337Glu) c.*2371G>C (n.*2371G>C) c.2144C>G c.4465G>C (n.4465G>C) c.4066C>G (p.Gln1356Glu) c.1508C>G c.1244C>G n.303C>G c.4144C>G (p.Gln1382Glu) c.4090C>G (p.Gln1364Glu) c.4050C>G (p.Ala1350=) c.3736C>G (p.Gln1246Glu) c.2425C>G (p.Gln809Glu) | gnomAD v4 |
1 | g.11788309C>T | CA338470358 | C1orf167,MTHFR | c.3508C>T (p.Gln1170Ter) c.4009C>T (p.Gln1337Ter) c.*2371G>A (n.*2371G>A) c.2144C>T c.4465G>A (n.4465G>A) c.4066C>T (p.Gln1356Ter) c.1508C>T c.1244C>T n.303C>T c.4144C>T (p.Gln1382Ter) c.4090C>T (p.Gln1364Ter) c.4050C>T (p.Ala1350=) c.3736C>T (p.Gln1246Ter) c.2425C>T (p.Gln809Ter) | gnomAD v4 |
1 | g.11788310A>C | CA338470359 | C1orf167,MTHFR | c.3509A>C (p.Gln1170Pro) c.4010A>C (p.Gln1337Pro) c.*2370T>G (n.*2370T>G) c.2145A>C c.4464T>G (n.4464T>G) c.4067A>C (p.Gln1356Pro) c.1509A>C c.1245A>C n.304A>C c.4145A>C (p.Gln1382Pro) c.4091A>C (p.Gln1364Pro) c.4051A>C (p.Arg1351=) c.3737A>C (p.Gln1246Pro) c.2426A>C (p.Gln809Pro) | |
1 | g.11788310A>G | CA338470360 | C1orf167,MTHFR | c.3509A>G (p.Gln1170Arg) c.4010A>G (p.Gln1337Arg) c.*2370T>C (n.*2370T>C) c.2145A>G c.4464T>C (n.4464T>C) c.4067A>G (p.Gln1356Arg) c.1509A>G c.1245A>G n.304A>G c.4145A>G (p.Gln1382Arg) c.4091A>G (p.Gln1364Arg) c.4051A>G (p.Arg1351Gly) c.3737A>G (p.Gln1246Arg) c.2426A>G (p.Gln809Arg) | |
1 | g.11788310A>T | CA338470361 | C1orf167,MTHFR | c.3509A>T (p.Gln1170Leu) c.4010A>T (p.Gln1337Leu) c.*2370T>A (n.*2370T>A) c.2145A>T c.4464T>A (n.4464T>A) c.4067A>T (p.Gln1356Leu) c.1509A>T c.1245A>T n.304A>T c.4145A>T (p.Gln1382Leu) c.4091A>T (p.Gln1364Leu) c.4051A>T (p.Arg1351Trp) c.3737A>T (p.Gln1246Leu) c.2426A>T (p.Gln809Leu) | |
1 | g.11788311G>A | CA416119021 | C1orf167,MTHFR | c.3510G>A (p.Gln1170=) c.4011G>A (p.Gln1337=) c.*2369C>T (n.*2369C>T) c.2146G>A c.4463C>T (n.4463C>T) c.4068G>A (p.Gln1356=) c.1510G>A c.1246G>A n.305G>A c.4146G>A (p.Gln1382=) c.4092G>A (p.Gln1364=) c.4052G>A (p.Arg1351Lys) c.3738G>A (p.Gln1246=) c.2427G>A (p.Gln809=) | |
1 | g.11788311G>C | CA338470362 | C1orf167,MTHFR | c.3510G>C (p.Gln1170His) c.4011G>C (p.Gln1337His) c.*2369C>G (n.*2369C>G) c.2146G>C c.4463C>G (n.4463C>G) c.4068G>C (p.Gln1356His) c.1510G>C c.1246G>C n.305G>C c.4146G>C (p.Gln1382His) c.4092G>C (p.Gln1364His) c.4052G>C (p.Arg1351Thr) c.3738G>C (p.Gln1246His) c.2427G>C (p.Gln809His) | |
1 | g.11788311G>T | CA338470363 | C1orf167,MTHFR | c.3510G>T (p.Gln1170His) c.4011G>T (p.Gln1337His) c.*2369C>A (n.*2369C>A) c.2146G>T c.4463C>A (n.4463C>A) c.4068G>T (p.Gln1356His) c.1510G>T c.1246G>T n.305G>T c.4146G>T (p.Gln1382His) c.4092G>T (p.Gln1364His) c.4052G>T (p.Arg1351Met) c.3738G>T (p.Gln1246His) c.2427G>T (p.Gln809His) | |
1 | g.11788312G>A | CA338470364 | C1orf167,MTHFR | c.3511G>A (p.Val1171Met) c.4012G>A (p.Val1338Met) c.*2368C>T (n.*2368C>T) c.2147G>A c.4462C>T (n.4462C>T) c.4069G>A (p.Val1357Met) c.1511G>A c.1247G>A n.306G>A c.4147G>A (p.Val1383Met) c.4093G>A (p.Val1365Met) c.4053G>A (p.Arg1351=) c.3739G>A (p.Val1247Met) c.2428G>A (p.Val810Met) | dbSNP |
1 | g.11788312G>C | CA338470365 | C1orf167,MTHFR | c.3511G>C (p.Val1171Leu) c.4012G>C (p.Val1338Leu) c.*2368C>G (n.*2368C>G) c.2147G>C c.4462C>G (n.4462C>G) c.4069G>C (p.Val1357Leu) c.1511G>C c.1247G>C n.306G>C c.4147G>C (p.Val1383Leu) c.4093G>C (p.Val1365Leu) c.4053G>C (p.Arg1351Ser) c.3739G>C (p.Val1247Leu) c.2428G>C (p.Val810Leu) | |
1 | g.11788312G= | CA1153787261 | C1orf167,MTHFR | c.3511G= (p.Val1171=) c.4012G= (p.Val1338=) c.*2368C= (n.*2368C=) c.2147G= c.4462C= (n.4462C=) c.4069G= (p.Val1357=) c.1511G= c.1247G= n.306G= c.4147G= (p.Val1383=) c.4093G= (p.Val1365=) c.4053G= (p.Arg1351=) c.3739G= (p.Val1247=) c.2428G= (p.Val810=) | |
1 | g.11788312G>T | CA338470366 | C1orf167,MTHFR | c.3511G>T (p.Val1171Leu) c.4012G>T (p.Val1338Leu) c.*2368C>A (n.*2368C>A) c.2147G>T c.4462C>A (n.4462C>A) c.4069G>T (p.Val1357Leu) c.1511G>T c.1247G>T n.306G>T c.4147G>T (p.Val1383Leu) c.4093G>T (p.Val1365Leu) c.4053G>T (p.Arg1351Ser) c.3739G>T (p.Val1247Leu) c.2428G>T (p.Val810Leu) | |
1 | g.11788313T>A | CA338470369 | C1orf167,MTHFR | c.3512T>A (p.Val1171Glu) c.4013T>A (p.Val1338Glu) c.*2367A>T (n.*2367A>T) c.2148T>A c.4461A>T (n.4461A>T) c.4070T>A (p.Val1357Glu) c.1512T>A c.1248T>A n.307T>A c.4148T>A (p.Val1383Glu) c.4094T>A (p.Val1365Glu) c.4054T>A (p.Cys1352Ser) c.3740T>A (p.Val1247Glu) c.2429T>A (p.Val810Glu) | |
1 | g.11788313T>C | CA338470368 | C1orf167,MTHFR | c.3512T>C (p.Val1171Ala) c.4013T>C (p.Val1338Ala) c.*2367A>G (n.*2367A>G) c.2148T>C c.4461A>G (n.4461A>G) c.4070T>C (p.Val1357Ala) c.1512T>C c.1248T>C n.307T>C c.4148T>C (p.Val1383Ala) c.4094T>C (p.Val1365Ala) c.4054T>C (p.Cys1352Arg) c.3740T>C (p.Val1247Ala) c.2429T>C (p.Val810Ala) | |
1 | g.11788313T>G | CA338470367 | C1orf167,MTHFR | c.3512T>G (p.Val1171Gly) c.4013T>G (p.Val1338Gly) c.*2367A>C (n.*2367A>C) c.2148T>G c.4461A>C (n.4461A>C) c.4070T>G (p.Val1357Gly) c.1512T>G c.1248T>G n.307T>G c.4148T>G (p.Val1383Gly) c.4094T>G (p.Val1365Gly) c.4054T>G (p.Cys1352Gly) c.3740T>G (p.Val1247Gly) c.2429T>G (p.Val810Gly) | |
1 | g.11788314G>A | CA416119025 | C1orf167,MTHFR | c.3513G>A (p.Val1171=) c.4014G>A (p.Val1338=) c.*2366C>T (n.*2366C>T) c.2149G>A c.4460C>T (n.4460C>T) c.4071G>A (p.Val1357=) c.1513G>A c.1249G>A n.308G>A c.4149G>A (p.Val1383=) c.4095G>A (p.Val1365=) c.4055G>A (p.Cys1352Tyr) c.3741G>A (p.Val1247=) c.2430G>A (p.Val810=) | gnomAD v4 |
1 | g.11788314G>C | CA416119027 | C1orf167,MTHFR | c.3513G>C (p.Val1171=) c.4014G>C (p.Val1338=) c.*2366C>G (n.*2366C>G) c.2149G>C c.4460C>G (n.4460C>G) c.4071G>C (p.Val1357=) c.1513G>C c.1249G>C n.308G>C c.4149G>C (p.Val1383=) c.4095G>C (p.Val1365=) c.4055G>C (p.Cys1352Ser) c.3741G>C (p.Val1247=) c.2430G>C (p.Val810=) | |
1 | g.11788314G>T | CA416119026 | C1orf167,MTHFR | c.3513G>T (p.Val1171=) c.4014G>T (p.Val1338=) c.*2366C>A (n.*2366C>A) c.2149G>T c.4460C>A (n.4460C>A) c.4071G>T (p.Val1357=) c.1513G>T c.1249G>T n.308G>T c.4149G>T (p.Val1383=) c.4095G>T (p.Val1365=) c.4055G>T (p.Cys1352Phe) c.3741G>T (p.Val1247=) c.2430G>T (p.Val810=) | |
1 | g.11788315C>A | CA338470372 | C1orf167,MTHFR | c.3514C>A (p.Pro1172Thr) c.4015C>A (p.Pro1339Thr) c.*2365G>T (n.*2365G>T) c.2150C>A c.4459G>T (n.4459G>T) c.4072C>A (p.Pro1358Thr) c.1514C>A c.1250C>A n.309C>A c.4150C>A (p.Pro1384Thr) c.4096C>A (p.Pro1366Thr) c.4056C>A (p.Cys1352Ter) c.3742C>A (p.Pro1248Thr) c.2431C>A (p.Pro811Thr) | |
1 | g.11788315C>G | CA338470370 | C1orf167,MTHFR | c.3514C>G (p.Pro1172Ala) c.4015C>G (p.Pro1339Ala) c.*2365G>C (n.*2365G>C) c.2150C>G c.4459G>C (n.4459G>C) c.4072C>G (p.Pro1358Ala) c.1514C>G c.1250C>G n.309C>G c.4150C>G (p.Pro1384Ala) c.4096C>G (p.Pro1366Ala) c.4056C>G (p.Cys1352Trp) c.3742C>G (p.Pro1248Ala) c.2431C>G (p.Pro811Ala) | |
1 | g.11788315C>T | CA338470371 | C1orf167,MTHFR | c.3514C>T (p.Pro1172Ser) c.4015C>T (p.Pro1339Ser) c.*2365G>A (n.*2365G>A) c.2150C>T c.4459G>A (n.4459G>A) c.4072C>T (p.Pro1358Ser) c.1514C>T c.1250C>T n.309C>T c.4150C>T (p.Pro1384Ser) c.4096C>T (p.Pro1366Ser) c.4056C>T (p.Cys1352=) c.3742C>T (p.Pro1248Ser) c.2431C>T (p.Pro811Ser) | |
1 | g.11788316C>A | CA338470373 | C1orf167,MTHFR | c.3515C>A (p.Pro1172His) c.4016C>A (p.Pro1339His) c.*2364G>T (n.*2364G>T) c.2151C>A c.4458G>T (n.4458G>T) c.4073C>A (p.Pro1358His) c.1515C>A c.1251C>A n.310C>A c.4151C>A (p.Pro1384His) c.4097C>A (p.Pro1366His) c.4057C>A (p.Leu1353Met) c.3743C>A (p.Pro1248His) c.2432C>A (p.Pro811His) | |
1 | g.11788316C= | CA1145506183 | C1orf167,MTHFR | c.3515C= (p.Pro1172=) c.4016C= (p.Pro1339=) c.*2364G= (n.*2364G=) c.2151C= c.4458G= (n.4458G=) c.4073C= (p.Pro1358=) c.1515C= c.1251C= n.310C= c.4151C= (p.Pro1384=) c.4097C= (p.Pro1366=) c.4057C= (p.Leu1353=) c.3743C= (p.Pro1248=) c.2432C= (p.Pro811=) | |
1 | g.11788316C>G | CA338470374 | C1orf167,MTHFR | c.3515C>G (p.Pro1172Arg) c.4016C>G (p.Pro1339Arg) c.*2364G>C (n.*2364G>C) c.2151C>G c.4458G>C (n.4458G>C) c.4073C>G (p.Pro1358Arg) c.1515C>G c.1251C>G n.310C>G c.4151C>G (p.Pro1384Arg) c.4097C>G (p.Pro1366Arg) c.4057C>G (p.Leu1353Val) c.3743C>G (p.Pro1248Arg) c.2432C>G (p.Pro811Arg) | gnomAD v4 |
1 | g.11788316C>T | CA17997369 | C1orf167,MTHFR | c.3515C>T (p.Pro1172Leu) c.4016C>T (p.Pro1339Leu) c.*2364G>A (n.*2364G>A) c.2151C>T c.4458G>A (n.4458G>A) c.4073C>T (p.Pro1358Leu) c.1515C>T c.1251C>T n.310C>T c.4151C>T (p.Pro1384Leu) c.4097C>T (p.Pro1366Leu) c.4057C>T (p.Leu1353=) c.3743C>T (p.Pro1248Leu) c.2432C>T (p.Pro811Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788317T>A | CA416119028 | C1orf167,MTHFR | c.3516T>A (p.Pro1172=) c.4017T>A (p.Pro1339=) c.*2363A>T (n.*2363A>T) c.2152T>A c.4457A>T (n.4457A>T) c.4074T>A (p.Pro1358=) c.1516T>A c.1252T>A n.311T>A c.4152T>A (p.Pro1384=) c.4098T>A (p.Pro1366=) c.4058T>A (p.Leu1353Gln) c.3744T>A (p.Pro1248=) c.2433T>A (p.Pro811=) | |
1 | g.11788317T>C | CA416119029 | C1orf167,MTHFR | c.3516T>C (p.Pro1172=) c.4017T>C (p.Pro1339=) c.*2363A>G (n.*2363A>G) c.2152T>C c.4457A>G (n.4457A>G) c.4074T>C (p.Pro1358=) c.1516T>C c.1252T>C n.311T>C c.4152T>C (p.Pro1384=) c.4098T>C (p.Pro1366=) c.4058T>C (p.Leu1353Pro) c.3744T>C (p.Pro1248=) c.2433T>C (p.Pro811=) | |
1 | g.11788317T>G | CA416119030 | C1orf167,MTHFR | c.3516T>G (p.Pro1172=) c.4017T>G (p.Pro1339=) c.*2363A>C (n.*2363A>C) c.2152T>G c.4457A>C (n.4457A>C) c.4074T>G (p.Pro1358=) c.1516T>G c.1252T>G n.311T>G c.4152T>G (p.Pro1384=) c.4098T>G (p.Pro1366=) c.4058T>G (p.Leu1353Arg) c.3744T>G (p.Pro1248=) c.2433T>G (p.Pro811=) | |
1 | g.11788318G>A | CA338470377 | C1orf167,MTHFR | c.3517G>A (p.Gly1173Ser) c.4018G>A (p.Gly1340Ser) c.*2362C>T (n.*2362C>T) c.2153G>A c.4456C>T (n.4456C>T) c.4075G>A (p.Gly1359Ser) c.1517G>A c.1253G>A n.312G>A c.4153G>A (p.Gly1385Ser) c.4099G>A (p.Gly1367Ser) c.4059G>A (p.Leu1353=) c.3745G>A (p.Gly1249Ser) c.2434G>A (p.Gly812Ser) | COSMIC COSMIC |
1 | g.11788318G>C | CA338470376 | C1orf167,MTHFR | c.3517G>C (p.Gly1173Arg) c.4018G>C (p.Gly1340Arg) c.*2362C>G (n.*2362C>G) c.2153G>C c.4456C>G (n.4456C>G) c.4075G>C (p.Gly1359Arg) c.1517G>C c.1253G>C n.312G>C c.4153G>C (p.Gly1385Arg) c.4099G>C (p.Gly1367Arg) c.4059G>C (p.Leu1353=) c.3745G>C (p.Gly1249Arg) c.2434G>C (p.Gly812Arg) | |
1 | g.11788318G>T | CA338470375 | C1orf167,MTHFR | c.3517G>T (p.Gly1173Cys) c.4018G>T (p.Gly1340Cys) c.*2362C>A (n.*2362C>A) c.2153G>T c.4456C>A (n.4456C>A) c.4075G>T (p.Gly1359Cys) c.1517G>T c.1253G>T n.312G>T c.4153G>T (p.Gly1385Cys) c.4099G>T (p.Gly1367Cys) c.4059G>T (p.Leu1353=) c.3745G>T (p.Gly1249Cys) c.2434G>T (p.Gly812Cys) | gnomAD v4 |
1 | g.11788319G>A | CA338470378 | C1orf167,MTHFR | c.3518G>A (p.Gly1173Asp) c.4019G>A (p.Gly1340Asp) c.*2361C>T (n.*2361C>T) c.2154G>A c.4455C>T (n.4455C>T) c.4076G>A (p.Gly1359Asp) c.1518G>A c.1254G>A n.313G>A c.4154G>A (p.Gly1385Asp) c.4100G>A (p.Gly1367Asp) c.4060G>A (p.Ala1354Thr) c.3746G>A (p.Gly1249Asp) c.2435G>A (p.Gly812Asp) | |
1 | g.11788319G>C | CA338470379 | C1orf167,MTHFR | c.3518G>C (p.Gly1173Ala) c.4019G>C (p.Gly1340Ala) c.*2361C>G (n.*2361C>G) c.2154G>C c.4455C>G (n.4455C>G) c.4076G>C (p.Gly1359Ala) c.1518G>C c.1254G>C n.313G>C c.4154G>C (p.Gly1385Ala) c.4100G>C (p.Gly1367Ala) c.4060G>C (p.Ala1354Pro) c.3746G>C (p.Gly1249Ala) c.2435G>C (p.Gly812Ala) | |
1 | g.11788319G>T | CA338470380 | C1orf167,MTHFR | c.3518G>T (p.Gly1173Val) c.4019G>T (p.Gly1340Val) c.*2361C>A (n.*2361C>A) c.2154G>T c.4455C>A (n.4455C>A) c.4076G>T (p.Gly1359Val) c.1518G>T c.1254G>T n.313G>T c.4154G>T (p.Gly1385Val) c.4100G>T (p.Gly1367Val) c.4060G>T (p.Ala1354Ser) c.3746G>T (p.Gly1249Val) c.2435G>T (p.Gly812Val) | |
1 | g.11788320C>A | CA416119031 | C1orf167,MTHFR | c.3519C>A (p.Gly1173=) c.4020C>A (p.Gly1340=) c.*2360G>T (n.*2360G>T) c.2155C>A c.4454G>T (n.4454G>T) c.4077C>A (p.Gly1359=) c.1519C>A c.1255C>A n.314C>A c.4155C>A (p.Gly1385=) c.4101C>A (p.Gly1367=) c.4061C>A (p.Ala1354Glu) c.3747C>A (p.Gly1249=) c.2436C>A (p.Gly812=) | gnomAD v4 |
1 | g.11788320C>G | CA416119032 | C1orf167,MTHFR | c.3519C>G (p.Gly1173=) c.4020C>G (p.Gly1340=) c.*2360G>C (n.*2360G>C) c.2155C>G c.4454G>C (n.4454G>C) c.4077C>G (p.Gly1359=) c.1519C>G c.1255C>G n.314C>G c.4155C>G (p.Gly1385=) c.4101C>G (p.Gly1367=) c.4061C>G (p.Ala1354Gly) c.3747C>G (p.Gly1249=) c.2436C>G (p.Gly812=) | |
1 | g.11788320C>T | CA416119033 | C1orf167,MTHFR | c.3519C>T (p.Gly1173=) c.4020C>T (p.Gly1340=) c.*2360G>A (n.*2360G>A) c.2155C>T c.4454G>A (n.4454G>A) c.4077C>T (p.Gly1359=) c.1519C>T c.1255C>T n.314C>T c.4155C>T (p.Gly1385=) c.4101C>T (p.Gly1367=) c.4061C>T (p.Ala1354Val) c.3747C>T (p.Gly1249=) c.2436C>T (p.Gly812=) | |
1 | g.11788321A>C | CA338470381 | C1orf167,MTHFR | c.3520A>C (p.Ser1174Arg) c.4021A>C (p.Ser1341Arg) c.*2359T>G (n.*2359T>G) c.2156A>C c.4453T>G (n.4453T>G) c.4078A>C (p.Ser1360Arg) c.1520A>C c.1256A>C n.315A>C c.4156A>C (p.Ser1386Arg) c.4102A>C (p.Ser1368Arg) c.4062A>C (p.Ala1354=) c.3748A>C (p.Ser1250Arg) c.2437A>C (p.Ser813Arg) | |
1 | g.11788321A>G | CA338470382 | C1orf167,MTHFR | c.3520A>G (p.Ser1174Gly) c.4021A>G (p.Ser1341Gly) c.*2359T>C (n.*2359T>C) c.2156A>G c.4453T>C (n.4453T>C) c.4078A>G (p.Ser1360Gly) c.1520A>G c.1256A>G n.315A>G c.4156A>G (p.Ser1386Gly) c.4102A>G (p.Ser1368Gly) c.4062A>G (p.Ala1354=) c.3748A>G (p.Ser1250Gly) c.2437A>G (p.Ser813Gly) | |
1 | g.11788321A>T | CA338470383 | C1orf167,MTHFR | c.3520A>T (p.Ser1174Cys) c.4021A>T (p.Ser1341Cys) c.*2359T>A (n.*2359T>A) c.2156A>T c.4453T>A (n.4453T>A) c.4078A>T (p.Ser1360Cys) c.1520A>T c.1256A>T n.315A>T c.4156A>T (p.Ser1386Cys) c.4102A>T (p.Ser1368Cys) c.4062A>T (p.Ala1354=) c.3748A>T (p.Ser1250Cys) c.2437A>T (p.Ser813Cys) | |
1 | g.11788322G>A | CA17997370 | C1orf167,MTHFR | c.3521G>A (p.Ser1174Asn) c.4022G>A (p.Ser1341Asn) c.*2358C>T (n.*2358C>T) c.2157G>A c.4452C>T (n.4452C>T) c.4079G>A (p.Ser1360Asn) c.1521G>A c.1257G>A n.316G>A c.4157G>A (p.Ser1386Asn) c.4103G>A (p.Ser1368Asn) c.4063G>A (p.Val1355Met) c.3749G>A (p.Ser1250Asn) c.2438G>A (p.Ser813Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788322G>C | CA338470385 | C1orf167,MTHFR | c.3521G>C (p.Ser1174Thr) c.4022G>C (p.Ser1341Thr) c.*2358C>G (n.*2358C>G) c.2157G>C c.4452C>G (n.4452C>G) c.4079G>C (p.Ser1360Thr) c.1521G>C c.1257G>C n.316G>C c.4157G>C (p.Ser1386Thr) c.4103G>C (p.Ser1368Thr) c.4063G>C (p.Val1355Leu) c.3749G>C (p.Ser1250Thr) c.2438G>C (p.Ser813Thr) | |
1 | g.11788322G= | CA1153787264 | C1orf167,MTHFR | c.3521G= (p.Ser1174=) c.4022G= (p.Ser1341=) c.*2358C= (n.*2358C=) c.2157G= c.4452C= (n.4452C=) c.4079G= (p.Ser1360=) c.1521G= c.1257G= n.316G= c.4157G= (p.Ser1386=) c.4103G= (p.Ser1368=) c.4063G= (p.Val1355=) c.3749G= (p.Ser1250=) c.2438G= (p.Ser813=) | |
1 | g.11788322G>T | CA338470384 | C1orf167,MTHFR | c.3521G>T (p.Ser1174Ile) c.4022G>T (p.Ser1341Ile) c.*2358C>A (n.*2358C>A) c.2157G>T c.4452C>A (n.4452C>A) c.4079G>T (p.Ser1360Ile) c.1521G>T c.1257G>T n.316G>T c.4157G>T (p.Ser1386Ile) c.4103G>T (p.Ser1368Ile) c.4063G>T (p.Val1355Leu) c.3749G>T (p.Ser1250Ile) c.2438G>T (p.Ser813Ile) | |
1 | g.11788323T>A | CA338470386 | C1orf167,MTHFR | c.3522T>A (p.Ser1174Arg) c.4023T>A (p.Ser1341Arg) c.*2357A>T (n.*2357A>T) c.2158T>A c.4451A>T (n.4451A>T) c.4080T>A (p.Ser1360Arg) c.1522T>A c.1258T>A n.317T>A c.4158T>A (p.Ser1386Arg) c.4104T>A (p.Ser1368Arg) c.4064T>A (p.Val1355Glu) c.3750T>A (p.Ser1250Arg) c.2439T>A (p.Ser813Arg) | |
1 | g.11788323T>C | CA416119035 | C1orf167,MTHFR | c.3522T>C (p.Ser1174=) c.4023T>C (p.Ser1341=) c.*2357A>G (n.*2357A>G) c.2158T>C c.4451A>G (n.4451A>G) c.4080T>C (p.Ser1360=) c.1522T>C c.1258T>C n.317T>C c.4158T>C (p.Ser1386=) c.4104T>C (p.Ser1368=) c.4064T>C (p.Val1355Ala) c.3750T>C (p.Ser1250=) c.2439T>C (p.Ser813=) | dbSNP |
1 | g.11788323T>G | CA338470387 | C1orf167,MTHFR | c.3522T>G (p.Ser1174Arg) c.4023T>G (p.Ser1341Arg) c.*2357A>C (n.*2357A>C) c.2158T>G c.4451A>C (n.4451A>C) c.4080T>G (p.Ser1360Arg) c.1522T>G c.1258T>G n.317T>G c.4158T>G (p.Ser1386Arg) c.4104T>G (p.Ser1368Arg) c.4064T>G (p.Val1355Gly) c.3750T>G (p.Ser1250Arg) c.2439T>G (p.Ser813Arg) | |
1 | g.11788323T= | CA1153787267 | C1orf167,MTHFR | c.3522T= (p.Ser1174=) c.4023T= (p.Ser1341=) c.*2357A= (n.*2357A=) c.2158T= c.4451A= (n.4451A=) c.4080T= (p.Ser1360=) c.1522T= c.1258T= n.317T= c.4158T= (p.Ser1386=) c.4104T= (p.Ser1368=) c.4064T= (p.Val1355=) c.3750T= (p.Ser1250=) c.2439T= (p.Ser813=) | |
1 | g.11788324G>A | CA338470388 | C1orf167,MTHFR | c.3523G>A (p.Gly1175Ser) c.4024G>A (p.Gly1342Ser) c.*2356C>T (n.*2356C>T) c.2159G>A c.4450C>T (n.4450C>T) c.4081G>A (p.Gly1361Ser) c.1523G>A c.1259G>A n.318G>A c.4159G>A (p.Gly1387Ser) c.4105G>A (p.Gly1369Ser) c.4065G>A (p.Val1355=) c.3751G>A (p.Gly1251Ser) c.2440G>A (p.Gly814Ser) | |
1 | g.11788324G>C | CA338470389 | C1orf167,MTHFR | c.3523G>C (p.Gly1175Arg) c.4024G>C (p.Gly1342Arg) c.*2356C>G (n.*2356C>G) c.2159G>C c.4450C>G (n.4450C>G) c.4081G>C (p.Gly1361Arg) c.1523G>C c.1259G>C n.318G>C c.4159G>C (p.Gly1387Arg) c.4105G>C (p.Gly1369Arg) c.4065G>C (p.Val1355=) c.3751G>C (p.Gly1251Arg) c.2440G>C (p.Gly814Arg) | |
1 | g.11788324G>T | CA338470390 | C1orf167,MTHFR | c.3523G>T (p.Gly1175Cys) c.4024G>T (p.Gly1342Cys) c.*2356C>A (n.*2356C>A) c.2159G>T c.4450C>A (n.4450C>A) c.4081G>T (p.Gly1361Cys) c.1523G>T c.1259G>T n.318G>T c.4159G>T (p.Gly1387Cys) c.4105G>T (p.Gly1369Cys) c.4065G>T (p.Val1355=) c.3751G>T (p.Gly1251Cys) c.2440G>T (p.Gly814Cys) | |
1 | g.11788324_11788334dup | CA521455310 | C1orf167,MTHFR | c.3523_3533dup (p.Leu1179AlafsTer?) c.4024_4034dup (p.Leu1346AlafsTer?) c.*2346_*2356dup (n.*2346_*2356dup) c.2159_2169dup c.4440_4450dup (n.4440_4450dup) c.4081_4091dup (p.Leu1365AlafsTer?) c.1523_1533dup c.1259_1269dup n.318_328dup c.4159_4169dup (p.Leu1391AlafsTer?) c.4105_4115dup (p.Leu1373AlafsTer?) c.4065_4075dup (p.His1359ArgfsTer25) c.4065_4075dup (p.His1359ArgfsTer?) c.3751_3761dup (p.Leu1255AlafsTer?) c.2440_2450dup (p.Leu818AlafsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788325G>A | CA17997389 | C1orf167,MTHFR | c.3524G>A (p.Gly1175Asp) c.4025G>A (p.Gly1342Asp) c.*2355C>T (n.*2355C>T) c.2160G>A c.4449C>T (n.4449C>T) c.4082G>A (p.Gly1361Asp) c.1524G>A c.1260G>A n.319G>A c.4160G>A (p.Gly1387Asp) c.4106G>A (p.Gly1369Asp) c.4066G>A (p.Ala1356Thr) c.3752G>A (p.Gly1251Asp) c.2441G>A (p.Gly814Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788325G>C | CA338470391 | C1orf167,MTHFR | c.3524G>C (p.Gly1175Ala) c.4025G>C (p.Gly1342Ala) c.*2355C>G (n.*2355C>G) c.2160G>C c.4449C>G (n.4449C>G) c.4082G>C (p.Gly1361Ala) c.1524G>C c.1260G>C n.319G>C c.4160G>C (p.Gly1387Ala) c.4106G>C (p.Gly1369Ala) c.4066G>C (p.Ala1356Pro) c.3752G>C (p.Gly1251Ala) c.2441G>C (p.Gly814Ala) | |
1 | g.11788325G= | CA1153787275 | C1orf167,MTHFR | c.3524G= (p.Gly1175=) c.4025G= (p.Gly1342=) c.*2355C= (n.*2355C=) c.2160G= c.4449C= (n.4449C=) c.4082G= (p.Gly1361=) c.1524G= c.1260G= n.319G= c.4160G= (p.Gly1387=) c.4106G= (p.Gly1369=) c.4066G= (p.Ala1356=) c.3752G= (p.Gly1251=) c.2441G= (p.Gly814=) | |
1 | g.11788325G>T | CA338470392 | C1orf167,MTHFR | c.3524G>T (p.Gly1175Val) c.4025G>T (p.Gly1342Val) c.*2355C>A (n.*2355C>A) c.2160G>T c.4449C>A (n.4449C>A) c.4082G>T (p.Gly1361Val) c.1524G>T c.1260G>T n.319G>T c.4160G>T (p.Gly1387Val) c.4106G>T (p.Gly1369Val) c.4066G>T (p.Ala1356Ser) c.3752G>T (p.Gly1251Val) c.2441G>T (p.Gly814Val) |