Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.11788222C>ACA338470181C1orf167,MTHFRc.3421C>A (p.His1141Asn)
c.3922C>A (p.His1308Asn)
c.*2458G>T (n.*2458G>T)
c.2057C>A
c.4552G>T (n.4552G>T)
c.3979C>A (p.His1327Asn)
c.1421C>A
c.1178-21C>A
n.237-21C>A
c.4057C>A (p.His1353Asn)
c.4003C>A (p.His1335Asn)
c.3984-21C>A (n.3984-21C>A)
c.3649C>A (p.His1217Asn)
c.2338C>A (p.His780Asn)
1g.11788222C>GCA338470182C1orf167,MTHFRc.3421C>G (p.His1141Asp)
c.3922C>G (p.His1308Asp)
c.*2458G>C (n.*2458G>C)
c.2057C>G
c.4552G>C (n.4552G>C)
c.3979C>G (p.His1327Asp)
c.1421C>G
c.1178-21C>G
n.237-21C>G
c.4057C>G (p.His1353Asp)
c.4003C>G (p.His1335Asp)
c.3984-21C>G (n.3984-21C>G)
c.3649C>G (p.His1217Asp)
c.2338C>G (p.His780Asp)
1g.11788222C>TCA338470183C1orf167,MTHFRc.3421C>T (p.His1141Tyr)
c.3922C>T (p.His1308Tyr)
c.*2458G>A (n.*2458G>A)
c.2057C>T
c.4552G>A (n.4552G>A)
c.3979C>T (p.His1327Tyr)
c.1421C>T
c.1178-21C>T
n.237-21C>T
c.4057C>T (p.His1353Tyr)
c.4003C>T (p.His1335Tyr)
c.3984-21C>T (n.3984-21C>T)
c.3649C>T (p.His1217Tyr)
c.2338C>T (p.His780Tyr)
1g.11788223A=CA1153787037C1orf167,MTHFRc.3422A= (p.His1141=)
c.3923A= (p.His1308=)
c.*2457T= (n.*2457T=)
c.2058A=
c.4551T= (n.4551T=)
c.3980A= (p.His1327=)
c.1422A=
c.1178-20A=
n.237-20A=
c.4058A= (p.His1353=)
c.4004A= (p.His1335=)
c.3984-20A= (n.3984-20A=)
c.3650A= (p.His1217=)
c.2339A= (p.His780=)
1g.11788223A>CCA338470184C1orf167,MTHFRc.3422A>C (p.His1141Pro)
c.3923A>C (p.His1308Pro)
c.*2457T>G (n.*2457T>G)
c.2058A>C
c.4551T>G (n.4551T>G)
c.3980A>C (p.His1327Pro)
c.1422A>C
c.1178-20A>C
n.237-20A>C
c.4058A>C (p.His1353Pro)
c.4004A>C (p.His1335Pro)
c.3984-20A>C (n.3984-20A>C)
c.3650A>C (p.His1217Pro)
c.2339A>C (p.His780Pro)
1g.11788223A>GCA338470185C1orf167,MTHFRc.3422A>G (p.His1141Arg)
c.3923A>G (p.His1308Arg)
c.*2457T>C (n.*2457T>C)
c.2058A>G
c.4551T>C (n.4551T>C)
c.3980A>G (p.His1327Arg)
c.1422A>G
c.1178-20A>G
n.237-20A>G
c.4058A>G (p.His1353Arg)
c.4004A>G (p.His1335Arg)
c.3984-20A>G (n.3984-20A>G)
c.3650A>G (p.His1217Arg)
c.2339A>G (p.His780Arg)
1g.11788223A>TCA338470186C1orf167,MTHFRc.3422A>T (p.His1141Leu)
c.3923A>T (p.His1308Leu)
c.*2457T>A (n.*2457T>A)
c.2058A>T
c.4551T>A (n.4551T>A)
c.3980A>T (p.His1327Leu)
c.1422A>T
c.1178-20A>T
n.237-20A>T
c.4058A>T (p.His1353Leu)
c.4004A>T (p.His1335Leu)
c.3984-20A>T (n.3984-20A>T)
c.3650A>T (p.His1217Leu)
c.2339A>T (p.His780Leu)
1g.11788224C>ACA338470188C1orf167,MTHFRc.3423C>A (p.His1141Gln)
c.3924C>A (p.His1308Gln)
c.*2456G>T (n.*2456G>T)
c.2059C>A
c.4550G>T (n.4550G>T)
c.3981C>A (p.His1327Gln)
c.1423C>A
c.1178-19C>A
n.237-19C>A
c.4059C>A (p.His1353Gln)
c.4005C>A (p.His1335Gln)
c.3984-19C>A (n.3984-19C>A)
c.3651C>A (p.His1217Gln)
c.2340C>A (p.His780Gln)
1g.11788224C=CA1153787042C1orf167,MTHFRc.3423C= (p.His1141=)
c.3924C= (p.His1308=)
c.*2456G= (n.*2456G=)
c.2059C=
c.4550G= (n.4550G=)
c.3981C= (p.His1327=)
c.1423C=
c.1178-19C=
n.237-19C=
c.4059C= (p.His1353=)
c.4005C= (p.His1335=)
c.3984-19C= (n.3984-19C=)
c.3651C= (p.His1217=)
c.2340C= (p.His780=)
1g.11788224C>GCA338470187C1orf167,MTHFRc.3423C>G (p.His1141Gln)
c.3924C>G (p.His1308Gln)
c.*2456G>C (n.*2456G>C)
c.2059C>G
c.4550G>C (n.4550G>C)
c.3981C>G (p.His1327Gln)
c.1423C>G
c.1178-19C>G
n.237-19C>G
c.4059C>G (p.His1353Gln)
c.4005C>G (p.His1335Gln)
c.3984-19C>G (n.3984-19C>G)
c.3651C>G (p.His1217Gln)
c.2340C>G (p.His780Gln)
1g.11788224C>TCA595079C1orf167,MTHFRc.3423C>T (p.His1141=)
c.3924C>T (p.His1308=)
c.*2456G>A (n.*2456G>A)
c.2059C>T
c.4550G>A (n.4550G>A)
c.3981C>T (p.His1327=)
c.1423C>T
c.1178-19C>T
n.237-19C>T
c.4059C>T (p.His1353=)
c.4005C>T (p.His1335=)
c.3984-19C>T (n.3984-19C>T)
c.3651C>T (p.His1217=)
c.2340C>T (p.His780=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11788224_11788227dupCA886036683C1orf167,MTHFRc.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
1g.11788225G>ACA595080C1orf167,MTHFRc.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
1g.11788225G>CCA338470189C1orf167,MTHFRc.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
1g.11788225G=CA1153787051C1orf167,MTHFRc.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=)
1g.11788225G>TCA338470190C1orf167,MTHFRc.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)
1g.11788226A>CCA338470191C1orf167,MTHFRc.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)
1g.11788226A>GCA338470192C1orf167,MTHFRc.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)
1g.11788226A>TCA338470193C1orf167,MTHFRc.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)
1g.11788227T>ACA338470195C1orf167,MTHFRc.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)
1g.11788227T>CCA416361753C1orf167,MTHFRc.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=)
1g.11788227T>GCA338470194C1orf167,MTHFRc.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)
1g.11788228G>ACA338470196C1orf167,MTHFRc.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
1g.11788228G>CCA338470197C1orf167,MTHFRc.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)
1g.11788228G=CA1153787058C1orf167,MTHFRc.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=)
1g.11788228G>TCA338470198C1orf167,MTHFRc.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)
1g.11788229C>ACA338470199C1orf167,MTHFRc.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
1g.11788229C=CA1153787062C1orf167,MTHFRc.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=)
1g.11788229C>GCA338470200C1orf167,MTHFRc.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)
1g.11788229C>TCA338470201C1orf167,MTHFRc.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
1g.11788230T>ACA416361754C1orf167,MTHFRc.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=)
1g.11788230T>CCA416361755C1orf167,MTHFRc.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=)
1g.11788230T>GCA416361756C1orf167,MTHFRc.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=)
1g.11788231C>ACA338470202C1orf167,MTHFRc.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)
1g.11788231C>GCA338470204C1orf167,MTHFRc.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)
1g.11788231C>TCA338470203C1orf167,MTHFRc.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)
1g.11788232T>ACA338470205C1orf167,MTHFRc.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)
1g.11788232T>CCA338470206C1orf167,MTHFRc.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
1g.11788232T>GCA338470207C1orf167,MTHFRc.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)
1g.11788232T=CA1153787068C1orf167,MTHFRc.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=)
1g.11788233T>ACA416361757C1orf167,MTHFRc.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=)
1g.11788233T>CCA416361758C1orf167,MTHFRc.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
1g.11788233T>GCA416361759C1orf167,MTHFRc.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=)
1g.11788234G>ACA338470208C1orf167,MTHFRc.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)
1g.11788234G>CCA338470209C1orf167,MTHFRc.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)
1g.11788234G>TCA338470210C1orf167,MTHFRc.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)
1g.11788235G>ACA17996242C1orf167,MTHFRc.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
1g.11788235G>CCA338470211C1orf167,MTHFRc.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)
1g.11788235G=CA1153787119C1orf167,MTHFRc.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=)
1g.11788235G>TCA338470212C1orf167,MTHFRc.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
1g.11788236C>ACA416361762C1orf167,MTHFRc.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=)
1g.11788236C=CA1146363382C1orf167,MTHFRc.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=)
1g.11788236C>GCA595081C1orf167,MTHFRc.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
1g.11788236C>TCA416361763C1orf167,MTHFRc.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
1g.11788237C>ACA338470215C1orf167,MTHFRc.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
1g.11788237C>GCA338470214C1orf167,MTHFRc.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)
1g.11788237C>TCA338470213C1orf167,MTHFRc.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)
1g.11788238A=CA1153787128C1orf167,MTHFRc.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=)
1g.11788238A>CCA338470216C1orf167,MTHFRc.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)
1g.11788238A>GCA338470218C1orf167,MTHFRc.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)
1g.11788238A>TCA338470217C1orf167,MTHFRc.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
1g.11788239T>ACA338470219C1orf167,MTHFRc.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)
1g.11788239T>CCA416361767C1orf167,MTHFRc.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=)
1g.11788239T>GCA338470220C1orf167,MTHFRc.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
1g.11788239T=CA1153787134C1orf167,MTHFRc.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=)
1g.11788240C>ACA338470221C1orf167,MTHFRc.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)
1g.11788240C>GCA338470222C1orf167,MTHFRc.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)
1g.11788240C>TCA338470223C1orf167,MTHFRc.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)
1g.11788241A>CCA338470224C1orf167,MTHFRc.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)
1g.11788241A>GCA338470225C1orf167,MTHFRc.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)
1g.11788241A>TCA338470226C1orf167,MTHFRc.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)
1g.11788242G>ACA416361768C1orf167,MTHFRc.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
1g.11788242G>CCA338470227C1orf167,MTHFRc.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)
1g.11788242G=CA1153787139C1orf167,MTHFRc.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=)
1g.11788242G>TCA338470228C1orf167,MTHFRc.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
1g.11788243G>ACA338470229C1orf167,MTHFRc.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)
1g.11788243G>CCA338470230C1orf167,MTHFRc.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)
1g.11788243G>TCA338470231C1orf167,MTHFRc.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)
1g.11788244A>CCA338470232C1orf167,MTHFRc.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)
1g.11788244A>GCA338470234C1orf167,MTHFRc.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)
1g.11788244A>TCA338470233C1orf167,MTHFRc.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)
1g.11788245G>ACA416361772C1orf167,MTHFRc.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
1g.11788245G>CCA338470235C1orf167,MTHFRc.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)
1g.11788245G>TCA338470236C1orf167,MTHFRc.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)
1g.11788246G>ACA338470237C1orf167,MTHFRc.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)
1g.11788246G>CCA338470238C1orf167,MTHFRc.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)
1g.11788246G>TCA338470239C1orf167,MTHFRc.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)
1g.11788247A>CCA338470240C1orf167,MTHFRc.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)
1g.11788247A>GCA338470241C1orf167,MTHFRc.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)
1g.11788247A>TCA338470242C1orf167,MTHFRc.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)
1g.11788248delCA2643295646C1orf167,MTHFRc.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
1g.11788248A>CCA338470243C1orf167,MTHFRc.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)
1g.11788248A>GCA416361776C1orf167,MTHFRc.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
1g.11788248A>TCA338470244C1orf167,MTHFRc.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)
1g.11788249G>ACA338470247C1orf167,MTHFRc.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)
1g.11788249G>CCA338470246C1orf167,MTHFRc.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)
1g.11788249G=CA1153787142C1orf167,MTHFRc.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=)
1g.11788249G>TCA338470245C1orf167,MTHFRc.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
1g.11788250T>ACA338470250C1orf167,MTHFRc.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)
1g.11788250T>CCA338470248C1orf167,MTHFRc.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
1g.11788250T>GCA338470249C1orf167,MTHFRc.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)
1g.11788251A>CCA416361777C1orf167,MTHFRc.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=)
1g.11788251A>GCA416361781C1orf167,MTHFRc.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=)
1g.11788251A>TCA416361779C1orf167,MTHFRc.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=)
1g.11788252C>ACA338470251C1orf167,MTHFRc.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
1g.11788252C=CA1153787146C1orf167,MTHFRc.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=)
1g.11788252C>GCA338470252C1orf167,MTHFRc.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)
1g.11788252C>TCA338470253C1orf167,MTHFRc.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
1g.11788253C>ACA338470256C1orf167,MTHFRc.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)
1g.11788253C>GCA338470255C1orf167,MTHFRc.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
1g.11788253C>TCA338470254C1orf167,MTHFRc.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)
1g.11788254T>ACA416361785C1orf167,MTHFRc.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=)
1g.11788254T>CCA416361787C1orf167,MTHFRc.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=)
1g.11788254T>GCA416361788C1orf167,MTHFRc.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=)
1g.11788255G>ACA338470257C1orf167,MTHFRc.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)
1g.11788255G>CCA338470258C1orf167,MTHFRc.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
1g.11788255G=CA1153787149C1orf167,MTHFRc.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=)
1g.11788255G>TCA338470259C1orf167,MTHFRc.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)
1g.11788256C>ACA338470260C1orf167,MTHFRc.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
1g.11788256C>GCA338470261C1orf167,MTHFRc.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)
1g.11788256C>TCA338470262C1orf167,MTHFRc.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)
1g.11788257A>CCA416361789C1orf167,MTHFRc.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=)
1g.11788257A>GCA416361791C1orf167,MTHFRc.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=)
1g.11788257A>TCA416361792C1orf167,MTHFRc.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=)
1g.11788258G>ACA338470263C1orf167,MTHFRc.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
1g.11788258G>CCA338470265C1orf167,MTHFRc.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)
1g.11788258G=CA1153787156C1orf167,MTHFRc.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=)
1g.11788258G>TCA338470264C1orf167,MTHFRc.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)
1g.11788259C>ACA338470266C1orf167,MTHFRc.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)
1g.11788259C=CA1153787160C1orf167,MTHFRc.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=)
1g.11788259C>GCA338470267C1orf167,MTHFRc.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)
1g.11788259C>TCA338470268C1orf167,MTHFRc.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
1g.11788260G>ACA416361798C1orf167,MTHFRc.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
1g.11788260G>CCA416361796C1orf167,MTHFRc.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=)
1g.11788260G=CA1153787165C1orf167,MTHFRc.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=)
1g.11788260G>TCA416361797C1orf167,MTHFRc.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=)
1g.11788261C>ACA338470269C1orf167,MTHFRc.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)
1g.11788261C=CA1153787170C1orf167,MTHFRc.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=)
1g.11788261C>GCA338470270C1orf167,MTHFRc.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)
1g.11788261C>TCA338470271C1orf167,MTHFRc.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
1g.11788262C>ACA338470272C1orf167,MTHFRc.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)
1g.11788262C=CA1153787175C1orf167,MTHFRc.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=)
1g.11788262C>GCA338470273C1orf167,MTHFRc.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)
1g.11788262C>TCA17996244C1orf167,MTHFRc.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
1g.11788263G>ACA17996246C1orf167,MTHFRc.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
1g.11788263G>CCA416361799C1orf167,MTHFRc.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
1g.11788263G=CA1153787181C1orf167,MTHFRc.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=)
1g.11788263G>TCA416361800C1orf167,MTHFRc.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=)
1g.11788264G>ACA338470274C1orf167,MTHFRc.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
1g.11788264G>CCA338470275C1orf167,MTHFRc.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)
1g.11788264G>TCA338470276C1orf167,MTHFRc.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)
1g.11788265T>ACA338470278C1orf167,MTHFRc.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)
1g.11788265T>CCA338470279C1orf167,MTHFRc.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
1g.11788265T>GCA338470277C1orf167,MTHFRc.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)
1g.11788265T=CA1153787189C1orf167,MTHFRc.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=)
1g.11788266G>ACA416361805C1orf167,MTHFRc.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=)
1g.11788266G>CCA416361803C1orf167,MTHFRc.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=)
1g.11788266G>TCA416361804C1orf167,MTHFRc.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=)
1g.11788267C>ACA338470280C1orf167,MTHFRc.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)
1g.11788267C>GCA338470281C1orf167,MTHFRc.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)
1g.11788267C>TCA338470282C1orf167,MTHFRc.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
1g.11788268C>ACA338470283C1orf167,MTHFRc.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)
1g.11788268C>GCA338470284C1orf167,MTHFRc.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)
1g.11788268C>TCA338470285C1orf167,MTHFRc.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)
1g.11788269T>ACA416361809C1orf167,MTHFRc.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=)
1g.11788269T>CCA416361810C1orf167,MTHFRc.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=)
1g.11788269T>GCA416361811C1orf167,MTHFRc.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=)
1g.11788270C>ACA416361812C1orf167,MTHFRc.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=)
1g.11788270C=CA1153787193C1orf167,MTHFRc.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=)
1g.11788270C>GCA338470286C1orf167,MTHFRc.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)
1g.11788270C>TCA595082C1orf167,MTHFRc.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
1g.11788271G>ACA17996255C1orf167,MTHFRc.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
1g.11788271G>CCA338470287C1orf167,MTHFRc.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
1g.11788271G=CA1153787197C1orf167,MTHFRc.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=)
1g.11788271G>TCA338470288C1orf167,MTHFRc.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)
1g.11788272A>CCA416361815C1orf167,MTHFRc.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=)
1g.11788272A>GCA416361816C1orf167,MTHFRc.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=)
1g.11788272A>TCA416361817C1orf167,MTHFRc.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=)
1g.11788273G>ACA338470289C1orf167,MTHFRc.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
1g.11788273G>CCA17996261C1orf167,MTHFRc.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
1g.11788273G=CA1153787203C1orf167,MTHFRc.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=)
1g.11788273G>TCA338470290C1orf167,MTHFRc.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)
1g.11788274G>ACA338470292C1orf167,MTHFRc.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
1g.11788274G>CCA338470291C1orf167,MTHFRc.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)
1g.11788274G=CA1153787207C1orf167,MTHFRc.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=)
1g.11788274G>TCA17996281C1orf167,MTHFRc.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
1g.11788276_11788280delCA2643295677C1orf167,MTHFRc.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
1g.11788275C>ACA416361821C1orf167,MTHFRc.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
1g.11788275C=CA1153787211C1orf167,MTHFRc.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=)
1g.11788275C>GCA416361823C1orf167,MTHFRc.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=)
1g.11788275C>TCA416361824C1orf167,MTHFRc.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
1g.11788276A>CCA338470293C1orf167,MTHFRc.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)
1g.11788276A>GCA338470294C1orf167,MTHFRc.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)
1g.11788276A>TCA338470295C1orf167,MTHFRc.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)
1g.11788277C>ACA338470296C1orf167,MTHFRc.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)
1g.11788277C>GCA338470297C1orf167,MTHFRc.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
1g.11788277C>TCA338470298C1orf167,MTHFRc.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)
1g.11788277_11788278insCGGCGCCA2574214377C1orf167,MTHFRc.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)
1g.11788277dupCA2740108932C1orf167,MTHFRc.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?)
1g.11788278T>ACA416361829C1orf167,MTHFRc.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=)
1g.11788278T>CCA416361830C1orf167,MTHFRc.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
1g.11788278T>GCA416361832C1orf167,MTHFRc.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=)
1g.11788279G>ACA338470299C1orf167,MTHFRc.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
1g.11788279G>CCA338470300C1orf167,MTHFRc.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)
1g.11788279G=CA1153787219C1orf167,MTHFRc.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=)
1g.11788279G>TCA338470301C1orf167,MTHFRc.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)
1g.11788280C>ACA338470302C1orf167,MTHFRc.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)
1g.11788280C>GCA338470303C1orf167,MTHFRc.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)
1g.11788280C>TCA338470304C1orf167,MTHFRc.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
1g.11788281T>ACA416361836C1orf167,MTHFRc.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=)
1g.11788281T>CCA416361834C1orf167,MTHFRc.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=)
1g.11788281T>GCA416361835C1orf167,MTHFRc.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=)
1g.11788282T>ACA338470305C1orf167,MTHFRc.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)
1g.11788282T>CCA338470307C1orf167,MTHFRc.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)
1g.11788282T>GCA338470306C1orf167,MTHFRc.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)
1g.11788283C>ACA338470308C1orf167,MTHFRc.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)
1g.11788283C>GCA338470309C1orf167,MTHFRc.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
1g.11788283C>TCA338470310C1orf167,MTHFRc.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)
1g.11788284A=CA1153787222C1orf167,MTHFRc.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=)
1g.11788284A>CCA416361842C1orf167,MTHFRc.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=)
1g.11788284A>GCA416361843C1orf167,MTHFRc.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
1g.11788284A>TCA416361844C1orf167,MTHFRc.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=)
1g.11788285C>ACA416361847C1orf167,MTHFRc.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=)
1g.11788285C=CA1153787225C1orf167,MTHFRc.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=)
1g.11788285C>GCA338470311C1orf167,MTHFRc.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)
1g.11788285C>TCA17996285C1orf167,MTHFRc.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
1g.11788286G>ACA17996287C1orf167,MTHFRc.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
1g.11788286G>CCA338470312C1orf167,MTHFRc.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
1g.11788286G=CA1153787228C1orf167,MTHFRc.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=)
1g.11788286G>TCA338470313C1orf167,MTHFRc.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
1g.11788287G>ACA416361849C1orf167,MTHFRc.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
1g.11788287G>CCA416361852C1orf167,MTHFRc.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=)
1g.11788287G=CA1153787229C1orf167,MTHFRc.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=)
1g.11788287G>TCA416361851C1orf167,MTHFRc.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=)
1g.11788288G>ACA338470314C1orf167,MTHFRc.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)
1g.11788288G>CCA338470315C1orf167,MTHFRc.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)
1g.11788288G>TCA338470316C1orf167,MTHFRc.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
1g.11788289C>ACA338470320C1orf167,MTHFRc.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
1g.11788289C=CA1153787231C1orf167,MTHFRc.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=)
1g.11788289C>GCA338470319C1orf167,MTHFRc.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)
1g.11788289C>TCA338470318C1orf167,MTHFRc.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
1g.11788290T>ACA416118998C1orf167,MTHFRc.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
1g.11788290T>CCA416118997C1orf167,MTHFRc.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=)
1g.11788290T>GCA416118996C1orf167,MTHFRc.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=)
1g.11788291G>ACA338470321C1orf167,MTHFRc.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)
1g.11788291G>CCA338470322C1orf167,MTHFRc.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)
1g.11788291G=CA1153787233C1orf167,MTHFRc.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=)
1g.11788291G>TCA338470323C1orf167,MTHFRc.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
1g.11788292C>ACA338470324C1orf167,MTHFRc.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
1g.11788292C=CA1146864323C1orf167,MTHFRc.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=)
1g.11788292C>GCA338470325C1orf167,MTHFRc.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
1g.11788292C>TCA17997364C1orf167,MTHFRc.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
1g.11788293G>ACA595083C1orf167,MTHFRc.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
1g.11788293G>CCA416119002C1orf167,MTHFRc.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=)
1g.11788293G=CA1143968514C1orf167,MTHFRc.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=)
1g.11788293G>TCA416119000C1orf167,MTHFRc.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=)
1g.11788294G>ACA338470326C1orf167,MTHFRc.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
1g.11788294G>CCA338470327C1orf167,MTHFRc.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)
1g.11788294G>TCA338470328C1orf167,MTHFRc.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)
1g.11788295G>ACA338470329C1orf167,MTHFRc.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)
1g.11788295G>CCA338470330C1orf167,MTHFRc.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)
1g.11788295G>TCA338470331C1orf167,MTHFRc.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)
1g.11788296G>ACA416119003C1orf167,MTHFRc.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
1g.11788296G>CCA595084C1orf167,MTHFRc.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
1g.11788296G=CA1153787239C1orf167,MTHFRc.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=)
1g.11788296G>TCA416119004C1orf167,MTHFRc.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=)
1g.11788297T>ACA338470333C1orf167,MTHFRc.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
1g.11788297T>CCA338470332C1orf167,MTHFRc.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
1g.11788297T>GCA338470334C1orf167,MTHFRc.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)
1g.11788298T>ACA338470335C1orf167,MTHFRc.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)
1g.11788298T>CCA338470337C1orf167,MTHFRc.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)
1g.11788298T>GCA338470336C1orf167,MTHFRc.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
1g.11788299C>ACA595085C1orf167,MTHFRc.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
1g.11788299C=CA1153787244C1orf167,MTHFRc.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=)
1g.11788299C>GCA338470338C1orf167,MTHFRc.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)
1g.11788299C>TCA416119007C1orf167,MTHFRc.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=)
1g.11788300C>ACA338470339C1orf167,MTHFRc.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
1g.11788300C>GCA338470341C1orf167,MTHFRc.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)
1g.11788300C>TCA338470340C1orf167,MTHFRc.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)
1g.11788301C>ACA338470342C1orf167,MTHFRc.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)
1g.11788301C>GCA338470343C1orf167,MTHFRc.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)
1g.11788301C>TCA338470344C1orf167,MTHFRc.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)
1g.11788302A=CA1153787245C1orf167,MTHFRc.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=)
1g.11788302A>CCA416119009C1orf167,MTHFRc.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=)
1g.11788302A>GCA416119010C1orf167,MTHFRc.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
1g.11788302A>TCA416119012C1orf167,MTHFRc.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=)
1g.11788303G>ACA338470345C1orf167,MTHFRc.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)
1g.11788303G>CCA338470346C1orf167,MTHFRc.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)
1g.11788303G=CA1153787248C1orf167,MTHFRc.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=)
1g.11788303G>TCA338470347C1orf167,MTHFRc.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
1g.11788305_11788308delCA2643295738C1orf167,MTHFRc.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
1g.11788304C>ACA338470348C1orf167,MTHFRc.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)
1g.11788304C>GCA338470349C1orf167,MTHFRc.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)
1g.11788304C>TCA338470350C1orf167,MTHFRc.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)
1g.11788305A>CCA416119013C1orf167,MTHFRc.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
1g.11788305A>GCA416119014C1orf167,MTHFRc.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=)
1g.11788305A>TCA416119016C1orf167,MTHFRc.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=)
1g.11788306G>ACA17997368C1orf167,MTHFRc.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
1g.11788306G>CCA338470351C1orf167,MTHFRc.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
1g.11788306G=CA1153787250C1orf167,MTHFRc.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=)
1g.11788306G>TCA338470352C1orf167,MTHFRc.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
1g.11788307G>ACA338470355C1orf167,MTHFRc.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
1g.11788307G>CCA338470353C1orf167,MTHFRc.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)
1g.11788307G=CA1153787255C1orf167,MTHFRc.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=)
1g.11788307G>TCA338470354C1orf167,MTHFRc.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)
1g.11788308C>ACA416119017C1orf167,MTHFRc.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=)
1g.11788308C=CA1153787258C1orf167,MTHFRc.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=)
1g.11788308C>GCA416119019C1orf167,MTHFRc.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
1g.11788308C>TCA416119018C1orf167,MTHFRc.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
1g.11788309C>ACA338470356C1orf167,MTHFRc.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)
1g.11788309C>GCA338470357C1orf167,MTHFRc.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
1g.11788309C>TCA338470358C1orf167,MTHFRc.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
1g.11788310A>CCA338470359C1orf167,MTHFRc.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)
1g.11788310A>GCA338470360C1orf167,MTHFRc.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)
1g.11788310A>TCA338470361C1orf167,MTHFRc.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)
1g.11788311G>ACA416119021C1orf167,MTHFRc.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=)
1g.11788311G>CCA338470362C1orf167,MTHFRc.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)
1g.11788311G>TCA338470363C1orf167,MTHFRc.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)
1g.11788312G>ACA338470364C1orf167,MTHFRc.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
1g.11788312G>CCA338470365C1orf167,MTHFRc.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)
1g.11788312G=CA1153787261C1orf167,MTHFRc.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=)
1g.11788312G>TCA338470366C1orf167,MTHFRc.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)
1g.11788313T>ACA338470369C1orf167,MTHFRc.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)
1g.11788313T>CCA338470368C1orf167,MTHFRc.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)
1g.11788313T>GCA338470367C1orf167,MTHFRc.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)
1g.11788314G>ACA416119025C1orf167,MTHFRc.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
1g.11788314G>CCA416119027C1orf167,MTHFRc.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=)
1g.11788314G>TCA416119026C1orf167,MTHFRc.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=)
1g.11788315C>ACA338470372C1orf167,MTHFRc.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)
1g.11788315C>GCA338470370C1orf167,MTHFRc.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)
1g.11788315C>TCA338470371C1orf167,MTHFRc.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)
1g.11788316C>ACA338470373C1orf167,MTHFRc.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)
1g.11788316C=CA1145506183C1orf167,MTHFRc.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=)
1g.11788316C>GCA338470374C1orf167,MTHFRc.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
1g.11788316C>TCA17997369C1orf167,MTHFRc.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
1g.11788317T>ACA416119028C1orf167,MTHFRc.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=)
1g.11788317T>CCA416119029C1orf167,MTHFRc.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=)
1g.11788317T>GCA416119030C1orf167,MTHFRc.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=)
1g.11788318G>ACA338470377C1orf167,MTHFRc.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
1g.11788318G>CCA338470376C1orf167,MTHFRc.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)
1g.11788318G>TCA338470375C1orf167,MTHFRc.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
1g.11788319G>ACA338470378C1orf167,MTHFRc.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)
1g.11788319G>CCA338470379C1orf167,MTHFRc.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)
1g.11788319G>TCA338470380C1orf167,MTHFRc.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)
1g.11788320C>ACA416119031C1orf167,MTHFRc.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
1g.11788320C>GCA416119032C1orf167,MTHFRc.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=)
1g.11788320C>TCA416119033C1orf167,MTHFRc.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=)
1g.11788321A>CCA338470381C1orf167,MTHFRc.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)
1g.11788321A>GCA338470382C1orf167,MTHFRc.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)
1g.11788321A>TCA338470383C1orf167,MTHFRc.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)
1g.11788322G>ACA17997370C1orf167,MTHFRc.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
1g.11788322G>CCA338470385C1orf167,MTHFRc.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)
1g.11788322G=CA1153787264C1orf167,MTHFRc.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=)
1g.11788322G>TCA338470384C1orf167,MTHFRc.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)

Number of alleles fetched