Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
1g.11788323T>ACA338470386C1orf167,MTHFRc.3522T>A (p.Ser1174Arg)
c.4023T>A (p.Ser1341Arg)
c.*2357A>T (n.*2357A>T)
c.2158T>A
c.4451A>T (n.4451A>T)
c.4080T>A (p.Ser1360Arg)
c.1522T>A
c.1258T>A
n.317T>A
c.4158T>A (p.Ser1386Arg)
c.4104T>A (p.Ser1368Arg)
c.4064T>A (p.Val1355Glu)
c.3750T>A (p.Ser1250Arg)
c.2439T>A (p.Ser813Arg)
1g.11788323T>CCA416119035C1orf167,MTHFRc.3522T>C (p.Ser1174=)
c.4023T>C (p.Ser1341=)
c.*2357A>G (n.*2357A>G)
c.2158T>C
c.4451A>G (n.4451A>G)
c.4080T>C (p.Ser1360=)
c.1522T>C
c.1258T>C
n.317T>C
c.4158T>C (p.Ser1386=)
c.4104T>C (p.Ser1368=)
c.4064T>C (p.Val1355Ala)
c.3750T>C (p.Ser1250=)
c.2439T>C (p.Ser813=)
 dbSNP
1g.11788323T>GCA338470387C1orf167,MTHFRc.3522T>G (p.Ser1174Arg)
c.4023T>G (p.Ser1341Arg)
c.*2357A>C (n.*2357A>C)
c.2158T>G
c.4451A>C (n.4451A>C)
c.4080T>G (p.Ser1360Arg)
c.1522T>G
c.1258T>G
n.317T>G
c.4158T>G (p.Ser1386Arg)
c.4104T>G (p.Ser1368Arg)
c.4064T>G (p.Val1355Gly)
c.3750T>G (p.Ser1250Arg)
c.2439T>G (p.Ser813Arg)
1g.11788323T=CA1153787267C1orf167,MTHFRc.3522T= (p.Ser1174=)
c.4023T= (p.Ser1341=)
c.*2357A= (n.*2357A=)
c.2158T=
c.4451A= (n.4451A=)
c.4080T= (p.Ser1360=)
c.1522T=
c.1258T=
n.317T=
c.4158T= (p.Ser1386=)
c.4104T= (p.Ser1368=)
c.4064T= (p.Val1355=)
c.3750T= (p.Ser1250=)
c.2439T= (p.Ser813=)
1g.11788324G>ACA338470388C1orf167,MTHFRc.3523G>A (p.Gly1175Ser)
c.4024G>A (p.Gly1342Ser)
c.*2356C>T (n.*2356C>T)
c.2159G>A
c.4450C>T (n.4450C>T)
c.4081G>A (p.Gly1361Ser)
c.1523G>A
c.1259G>A
n.318G>A
c.4159G>A (p.Gly1387Ser)
c.4105G>A (p.Gly1369Ser)
c.4065G>A (p.Val1355=)
c.3751G>A (p.Gly1251Ser)
c.2440G>A (p.Gly814Ser)
1g.11788324G>CCA338470389C1orf167,MTHFRc.3523G>C (p.Gly1175Arg)
c.4024G>C (p.Gly1342Arg)
c.*2356C>G (n.*2356C>G)
c.2159G>C
c.4450C>G (n.4450C>G)
c.4081G>C (p.Gly1361Arg)
c.1523G>C
c.1259G>C
n.318G>C
c.4159G>C (p.Gly1387Arg)
c.4105G>C (p.Gly1369Arg)
c.4065G>C (p.Val1355=)
c.3751G>C (p.Gly1251Arg)
c.2440G>C (p.Gly814Arg)
1g.11788324G>TCA338470390C1orf167,MTHFRc.3523G>T (p.Gly1175Cys)
c.4024G>T (p.Gly1342Cys)
c.*2356C>A (n.*2356C>A)
c.2159G>T
c.4450C>A (n.4450C>A)
c.4081G>T (p.Gly1361Cys)
c.1523G>T
c.1259G>T
n.318G>T
c.4159G>T (p.Gly1387Cys)
c.4105G>T (p.Gly1369Cys)
c.4065G>T (p.Val1355=)
c.3751G>T (p.Gly1251Cys)
c.2440G>T (p.Gly814Cys)
1g.11788324_11788334dupCA521455310C1orf167,MTHFRc.3523_3533dup (p.Leu1179AlafsTer?)
c.4024_4034dup (p.Leu1346AlafsTer?)
c.*2346_*2356dup (n.*2346_*2356dup)
c.2159_2169dup
c.4440_4450dup (n.4440_4450dup)
c.4081_4091dup (p.Leu1365AlafsTer?)
c.1523_1533dup
c.1259_1269dup
n.318_328dup
c.4159_4169dup (p.Leu1391AlafsTer?)
c.4105_4115dup (p.Leu1373AlafsTer?)
c.4065_4075dup (p.His1359ArgfsTer25)
c.4065_4075dup (p.His1359ArgfsTer?)
c.3751_3761dup (p.Leu1255AlafsTer?)
c.2440_2450dup (p.Leu818AlafsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788325G>ACA17997389C1orf167,MTHFRc.3524G>A (p.Gly1175Asp)
c.4025G>A (p.Gly1342Asp)
c.*2355C>T (n.*2355C>T)
c.2160G>A
c.4449C>T (n.4449C>T)
c.4082G>A (p.Gly1361Asp)
c.1524G>A
c.1260G>A
n.319G>A
c.4160G>A (p.Gly1387Asp)
c.4106G>A (p.Gly1369Asp)
c.4066G>A (p.Ala1356Thr)
c.3752G>A (p.Gly1251Asp)
c.2441G>A (p.Gly814Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.11788325G>CCA338470391C1orf167,MTHFRc.3524G>C (p.Gly1175Ala)
c.4025G>C (p.Gly1342Ala)
c.*2355C>G (n.*2355C>G)
c.2160G>C
c.4449C>G (n.4449C>G)
c.4082G>C (p.Gly1361Ala)
c.1524G>C
c.1260G>C
n.319G>C
c.4160G>C (p.Gly1387Ala)
c.4106G>C (p.Gly1369Ala)
c.4066G>C (p.Ala1356Pro)
c.3752G>C (p.Gly1251Ala)
c.2441G>C (p.Gly814Ala)
1g.11788325G=CA1153787275C1orf167,MTHFRc.3524G= (p.Gly1175=)
c.4025G= (p.Gly1342=)
c.*2355C= (n.*2355C=)
c.2160G=
c.4449C= (n.4449C=)
c.4082G= (p.Gly1361=)
c.1524G=
c.1260G=
n.319G=
c.4160G= (p.Gly1387=)
c.4106G= (p.Gly1369=)
c.4066G= (p.Ala1356=)
c.3752G= (p.Gly1251=)
c.2441G= (p.Gly814=)
1g.11788325G>TCA338470392C1orf167,MTHFRc.3524G>T (p.Gly1175Val)
c.4025G>T (p.Gly1342Val)
c.*2355C>A (n.*2355C>A)
c.2160G>T
c.4449C>A (n.4449C>A)
c.4082G>T (p.Gly1361Val)
c.1524G>T
c.1260G>T
n.319G>T
c.4160G>T (p.Gly1387Val)
c.4106G>T (p.Gly1369Val)
c.4066G>T (p.Ala1356Ser)
c.3752G>T (p.Gly1251Val)
c.2441G>T (p.Gly814Val)
1g.11788326C>ACA416119036C1orf167,MTHFRc.3525C>A (p.Gly1175=)
c.4026C>A (p.Gly1342=)
c.*2354G>T (n.*2354G>T)
c.2161C>A
c.4448G>T (n.4448G>T)
c.4083C>A (p.Gly1361=)
c.1525C>A
c.1261C>A
n.320C>A
c.4161C>A (p.Gly1387=)
c.4107C>A (p.Gly1369=)
c.4067C>A (p.Ala1356Glu)
c.3753C>A (p.Gly1251=)
c.2442C>A (p.Gly814=)
1g.11788326C>GCA416119037C1orf167,MTHFRc.3525C>G (p.Gly1175=)
c.4026C>G (p.Gly1342=)
c.*2354G>C (n.*2354G>C)
c.2161C>G
c.4448G>C (n.4448G>C)
c.4083C>G (p.Gly1361=)
c.1525C>G
c.1261C>G
n.320C>G
c.4161C>G (p.Gly1387=)
c.4107C>G (p.Gly1369=)
c.4067C>G (p.Ala1356Gly)
c.3753C>G (p.Gly1251=)
c.2442C>G (p.Gly814=)
1g.11788326C>TCA416119038C1orf167,MTHFRc.3525C>T (p.Gly1175=)
c.4026C>T (p.Gly1342=)
c.*2354G>A (n.*2354G>A)
c.2161C>T
c.4448G>A (n.4448G>A)
c.4083C>T (p.Gly1361=)
c.1525C>T
c.1261C>T
n.320C>T
c.4161C>T (p.Gly1387=)
c.4107C>T (p.Gly1369=)
c.4067C>T (p.Ala1356Val)
c.3753C>T (p.Gly1251=)
c.2442C>T (p.Gly814=)
1g.11788327A>CCA338470393C1orf167,MTHFRc.3526A>C (p.Met1176Leu)
c.4027A>C (p.Met1343Leu)
c.*2353T>G (n.*2353T>G)
c.2162A>C
c.4447T>G (n.4447T>G)
c.4084A>C (p.Met1362Leu)
c.1526A>C
c.1262A>C
n.321A>C
c.4162A>C (p.Met1388Leu)
c.4108A>C (p.Met1370Leu)
c.4068A>C (p.Ala1356=)
c.3754A>C (p.Met1252Leu)
c.2443A>C (p.Met815Leu)
1g.11788327A>GCA338470394C1orf167,MTHFRc.3526A>G (p.Met1176Val)
c.4027A>G (p.Met1343Val)
c.*2353T>C (n.*2353T>C)
c.2162A>G
c.4447T>C (n.4447T>C)
c.4084A>G (p.Met1362Val)
c.1526A>G
c.1262A>G
n.321A>G
c.4162A>G (p.Met1388Val)
c.4108A>G (p.Met1370Val)
c.4068A>G (p.Ala1356=)
c.3754A>G (p.Met1252Val)
c.2443A>G (p.Met815Val)
1g.11788327A>TCA338470395C1orf167,MTHFRc.3526A>T (p.Met1176Leu)
c.4027A>T (p.Met1343Leu)
c.*2353T>A (n.*2353T>A)
c.2162A>T
c.4447T>A (n.4447T>A)
c.4084A>T (p.Met1362Leu)
c.1526A>T
c.1262A>T
n.321A>T
c.4162A>T (p.Met1388Leu)
c.4108A>T (p.Met1370Leu)
c.4068A>T (p.Ala1356=)
c.3754A>T (p.Met1252Leu)
c.2443A>T (p.Met815Leu)
1g.11788328T>ACA338470397C1orf167,MTHFRc.3527T>A (p.Met1176Lys)
c.4028T>A (p.Met1343Lys)
c.*2352A>T (n.*2352A>T)
c.2163T>A
c.4446A>T (n.4446A>T)
c.4085T>A (p.Met1362Lys)
c.1527T>A
c.1263T>A
n.322T>A
c.4163T>A (p.Met1388Lys)
c.4109T>A (p.Met1370Lys)
c.4069T>A (p.Trp1357Arg)
c.3755T>A (p.Met1252Lys)
c.2444T>A (p.Met815Lys)
1g.11788328T>CCA595086C1orf167,MTHFRc.3527T>C (p.Met1176Thr)
c.4028T>C (p.Met1343Thr)
c.*2352A>G (n.*2352A>G)
c.2163T>C
c.4446A>G (n.4446A>G)
c.4085T>C (p.Met1362Thr)
c.1527T>C
c.1263T>C
n.322T>C
c.4163T>C (p.Met1388Thr)
c.4109T>C (p.Met1370Thr)
c.4069T>C (p.Trp1357Arg)
c.3755T>C (p.Met1252Thr)
c.2444T>C (p.Met815Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11788328T>GCA338470396C1orf167,MTHFRc.3527T>G (p.Met1176Arg)
c.4028T>G (p.Met1343Arg)
c.*2352A>C (n.*2352A>C)
c.2163T>G
c.4446A>C (n.4446A>C)
c.4085T>G (p.Met1362Arg)
c.1527T>G
c.1263T>G
n.322T>G
c.4163T>G (p.Met1388Arg)
c.4109T>G (p.Met1370Arg)
c.4069T>G (p.Trp1357Gly)
c.3755T>G (p.Met1252Arg)
c.2444T>G (p.Met815Arg)
1g.11788328T=CA1153787277C1orf167,MTHFRc.3527T= (p.Met1176=)
c.4028T= (p.Met1343=)
c.*2352A= (n.*2352A=)
c.2163T=
c.4446A= (n.4446A=)
c.4085T= (p.Met1362=)
c.1527T=
c.1263T=
n.322T=
c.4163T= (p.Met1388=)
c.4109T= (p.Met1370=)
c.4069T= (p.Trp1357=)
c.3755T= (p.Met1252=)
c.2444T= (p.Met815=)
1g.11788329G>ACA338470398C1orf167,MTHFRc.3528G>A (p.Met1176Ile)
c.4029G>A (p.Met1343Ile)
c.*2351C>T (n.*2351C>T)
c.2164G>A
c.4445C>T (n.4445C>T)
c.4086G>A (p.Met1362Ile)
c.1528G>A
c.1264G>A
n.323G>A
c.4164G>A (p.Met1388Ile)
c.4110G>A (p.Met1370Ile)
c.4070G>A (p.Trp1357Ter)
c.3756G>A (p.Met1252Ile)
c.2445G>A (p.Met815Ile)
 dbSNP gnomAD v4
1g.11788329G>CCA338470400C1orf167,MTHFRc.3528G>C (p.Met1176Ile)
c.4029G>C (p.Met1343Ile)
c.*2351C>G (n.*2351C>G)
c.2164G>C
c.4445C>G (n.4445C>G)
c.4086G>C (p.Met1362Ile)
c.1528G>C
c.1264G>C
n.323G>C
c.4164G>C (p.Met1388Ile)
c.4110G>C (p.Met1370Ile)
c.4070G>C (p.Trp1357Ser)
c.3756G>C (p.Met1252Ile)
c.2445G>C (p.Met815Ile)
1g.11788329G=CA1153787279C1orf167,MTHFRc.3528G= (p.Met1176=)
c.4029G= (p.Met1343=)
c.*2351C= (n.*2351C=)
c.2164G=
c.4445C= (n.4445C=)
c.4086G= (p.Met1362=)
c.1528G=
c.1264G=
n.323G=
c.4164G= (p.Met1388=)
c.4110G= (p.Met1370=)
c.4070G= (p.Trp1357=)
c.3756G= (p.Met1252=)
c.2445G= (p.Met815=)
1g.11788329G>TCA338470399C1orf167,MTHFRc.3528G>T (p.Met1176Ile)
c.4029G>T (p.Met1343Ile)
c.*2351C>A (n.*2351C>A)
c.2164G>T
c.4445C>A (n.4445C>A)
c.4086G>T (p.Met1362Ile)
c.1528G>T
c.1264G>T
n.323G>T
c.4164G>T (p.Met1388Ile)
c.4110G>T (p.Met1370Ile)
c.4070G>T (p.Trp1357Leu)
c.3756G>T (p.Met1252Ile)
c.2445G>T (p.Met815Ile)
1g.11788330G>ACA338470401C1orf167,MTHFRc.3529G>A (p.Ala1177Thr)
c.4030G>A (p.Ala1344Thr)
c.*2350C>T (n.*2350C>T)
c.2165G>A
c.4444C>T (n.4444C>T)
c.4087G>A (p.Ala1363Thr)
c.1529G>A
c.1265G>A
n.324G>A
c.4165G>A (p.Ala1389Thr)
c.4111G>A (p.Ala1371Thr)
c.4071G>A (p.Trp1357Ter)
c.3757G>A (p.Ala1253Thr)
c.2446G>A (p.Ala816Thr)
1g.11788330G>CCA338470402C1orf167,MTHFRc.3529G>C (p.Ala1177Pro)
c.4030G>C (p.Ala1344Pro)
c.*2350C>G (n.*2350C>G)
c.2165G>C
c.4444C>G (n.4444C>G)
c.4087G>C (p.Ala1363Pro)
c.1529G>C
c.1265G>C
n.324G>C
c.4165G>C (p.Ala1389Pro)
c.4111G>C (p.Ala1371Pro)
c.4071G>C (p.Trp1357Cys)
c.3757G>C (p.Ala1253Pro)
c.2446G>C (p.Ala816Pro)
1g.11788330G>TCA338470403C1orf167,MTHFRc.3529G>T (p.Ala1177Ser)
c.4030G>T (p.Ala1344Ser)
c.*2350C>A (n.*2350C>A)
c.2165G>T
c.4444C>A (n.4444C>A)
c.4087G>T (p.Ala1363Ser)
c.1529G>T
c.1265G>T
n.324G>T
c.4165G>T (p.Ala1389Ser)
c.4111G>T (p.Ala1371Ser)
c.4071G>T (p.Trp1357Cys)
c.3757G>T (p.Ala1253Ser)
c.2446G>T (p.Ala816Ser)
1g.11788331C>ACA338470404C1orf167,MTHFRc.3530C>A (p.Ala1177Glu)
c.4031C>A (p.Ala1344Glu)
c.*2349G>T (n.*2349G>T)
c.2166C>A
c.4443G>T (n.4443G>T)
c.4088C>A (p.Ala1363Glu)
c.1530C>A
c.1266C>A
n.325C>A
c.4166C>A (p.Ala1389Glu)
c.4112C>A (p.Ala1371Glu)
c.4072C>A (p.Gln1358Lys)
c.3758C>A (p.Ala1253Glu)
c.2447C>A (p.Ala816Glu)
1g.11788331C>GCA338470405C1orf167,MTHFRc.3530C>G (p.Ala1177Gly)
c.4031C>G (p.Ala1344Gly)
c.*2349G>C (n.*2349G>C)
c.2166C>G
c.4443G>C (n.4443G>C)
c.4088C>G (p.Ala1363Gly)
c.1530C>G
c.1266C>G
n.325C>G
c.4166C>G (p.Ala1389Gly)
c.4112C>G (p.Ala1371Gly)
c.4072C>G (p.Gln1358Glu)
c.3758C>G (p.Ala1253Gly)
c.2447C>G (p.Ala816Gly)
 gnomAD v4
1g.11788331C>TCA338470406C1orf167,MTHFRc.3530C>T (p.Ala1177Val)
c.4031C>T (p.Ala1344Val)
c.*2349G>A (n.*2349G>A)
c.2166C>T
c.4443G>A (n.4443G>A)
c.4088C>T (p.Ala1363Val)
c.1530C>T
c.1266C>T
n.325C>T
c.4166C>T (p.Ala1389Val)
c.4112C>T (p.Ala1371Val)
c.4072C>T (p.Gln1358Ter)
c.3758C>T (p.Ala1253Val)
c.2447C>T (p.Ala816Val)
 gnomAD v4
1g.11788332A=CA1153787282C1orf167,MTHFRc.3531A= (p.Ala1177=)
c.4032A= (p.Ala1344=)
c.*2348T= (n.*2348T=)
c.2167A=
c.4442T= (n.4442T=)
c.4089A= (p.Ala1363=)
c.1531A=
c.1267A=
n.326A=
c.4167A= (p.Ala1389=)
c.4113A= (p.Ala1371=)
c.4073A= (p.Gln1358=)
c.3759A= (p.Ala1253=)
c.2448A= (p.Ala816=)
1g.11788332A>CCA416119039C1orf167,MTHFRc.3531A>C (p.Ala1177=)
c.4032A>C (p.Ala1344=)
c.*2348T>G (n.*2348T>G)
c.2167A>C
c.4442T>G (n.4442T>G)
c.4089A>C (p.Ala1363=)
c.1531A>C
c.1267A>C
n.326A>C
c.4167A>C (p.Ala1389=)
c.4113A>C (p.Ala1371=)
c.4073A>C (p.Gln1358Pro)
c.3759A>C (p.Ala1253=)
c.2448A>C (p.Ala816=)
1g.11788332A>GCA17997400C1orf167,MTHFRc.3531A>G (p.Ala1177=)
c.4032A>G (p.Ala1344=)
c.*2348T>C (n.*2348T>C)
c.2167A>G
c.4442T>C (n.4442T>C)
c.4089A>G (p.Ala1363=)
c.1531A>G
c.1267A>G
n.326A>G
c.4167A>G (p.Ala1389=)
c.4113A>G (p.Ala1371=)
c.4073A>G (p.Gln1358Arg)
c.3759A>G (p.Ala1253=)
c.2448A>G (p.Ala816=)
 dbSNP gnomAD v3 gnomAD v4
1g.11788332A>TCA416119040C1orf167,MTHFRc.3531A>T (p.Ala1177=)
c.4032A>T (p.Ala1344=)
c.*2348T>A (n.*2348T>A)
c.2167A>T
c.4442T>A (n.4442T>A)
c.4089A>T (p.Ala1363=)
c.1531A>T
c.1267A>T
n.326A>T
c.4167A>T (p.Ala1389=)
c.4113A>T (p.Ala1371=)
c.4073A>T (p.Gln1358Leu)
c.3759A>T (p.Ala1253=)
c.2448A>T (p.Ala816=)
 gnomAD v4
1g.11788333G>ACA338470407C1orf167,MTHFRc.3532G>A (p.Ala1178Thr)
c.4033G>A (p.Ala1345Thr)
c.*2347C>T (n.*2347C>T)
c.2168G>A
c.4441C>T (n.4441C>T)
c.4090G>A (p.Ala1364Thr)
c.1532G>A
c.1268G>A
n.327G>A
c.4168G>A (p.Ala1390Thr)
c.4114G>A (p.Ala1372Thr)
c.4074G>A (p.Gln1358=)
c.3760G>A (p.Ala1254Thr)
c.2449G>A (p.Ala817Thr)
1g.11788333G>CCA338470408C1orf167,MTHFRc.3532G>C (p.Ala1178Pro)
c.4033G>C (p.Ala1345Pro)
c.*2347C>G (n.*2347C>G)
c.2168G>C
c.4441C>G (n.4441C>G)
c.4090G>C (p.Ala1364Pro)
c.1532G>C
c.1268G>C
n.327G>C
c.4168G>C (p.Ala1390Pro)
c.4114G>C (p.Ala1372Pro)
c.4074G>C (p.Gln1358His)
c.3760G>C (p.Ala1254Pro)
c.2449G>C (p.Ala817Pro)
 dbSNP gnomAD v4
1g.11788333G=CA1153787284C1orf167,MTHFRc.3532G= (p.Ala1178=)
c.4033G= (p.Ala1345=)
c.*2347C= (n.*2347C=)
c.2168G=
c.4441C= (n.4441C=)
c.4090G= (p.Ala1364=)
c.1532G=
c.1268G=
n.327G=
c.4168G= (p.Ala1390=)
c.4114G= (p.Ala1372=)
c.4074G= (p.Gln1358=)
c.3760G= (p.Ala1254=)
c.2449G= (p.Ala817=)
1g.11788333G>TCA338470409C1orf167,MTHFRc.3532G>T (p.Ala1178Ser)
c.4033G>T (p.Ala1345Ser)
c.*2347C>A (n.*2347C>A)
c.2168G>T
c.4441C>A (n.4441C>A)
c.4090G>T (p.Ala1364Ser)
c.1532G>T
c.1268G>T
n.327G>T
c.4168G>T (p.Ala1390Ser)
c.4114G>T (p.Ala1372Ser)
c.4074G>T (p.Gln1358His)
c.3760G>T (p.Ala1254Ser)
c.2449G>T (p.Ala817Ser)
 gnomAD v4
1g.11788334C>ACA338470410C1orf167,MTHFRc.3533C>A (p.Ala1178Glu)
c.4034C>A (p.Ala1345Glu)
c.*2346G>T (n.*2346G>T)
c.2169C>A
c.4440G>T (n.4440G>T)
c.4091C>A (p.Ala1364Glu)
c.1533C>A
c.1269C>A
n.328C>A
c.4169C>A (p.Ala1390Glu)
c.4115C>A (p.Ala1372Glu)
c.4075C>A (p.His1359Asn)
c.3761C>A (p.Ala1254Glu)
c.2450C>A (p.Ala817Glu)
1g.11788334C=CA1153787287C1orf167,MTHFRc.3533C= (p.Ala1178=)
c.4034C= (p.Ala1345=)
c.*2346G= (n.*2346G=)
c.2169C=
c.4440G= (n.4440G=)
c.4091C= (p.Ala1364=)
c.1533C=
c.1269C=
n.328C=
c.4169C= (p.Ala1390=)
c.4115C= (p.Ala1372=)
c.4075C= (p.His1359=)
c.3761C= (p.Ala1254=)
c.2450C= (p.Ala817=)
1g.11788334C>GCA338470411C1orf167,MTHFRc.3533C>G (p.Ala1178Gly)
c.4034C>G (p.Ala1345Gly)
c.*2346G>C (n.*2346G>C)
c.2169C>G
c.4440G>C (n.4440G>C)
c.4091C>G (p.Ala1364Gly)
c.1533C>G
c.1269C>G
n.328C>G
c.4169C>G (p.Ala1390Gly)
c.4115C>G (p.Ala1372Gly)
c.4075C>G (p.His1359Asp)
c.3761C>G (p.Ala1254Gly)
c.2450C>G (p.Ala817Gly)
1g.11788334C>TCA595087C1orf167,MTHFRc.3533C>T (p.Ala1178Val)
c.4034C>T (p.Ala1345Val)
c.*2346G>A (n.*2346G>A)
c.2169C>T
c.4440G>A (n.4440G>A)
c.4091C>T (p.Ala1364Val)
c.1533C>T
c.1269C>T
n.328C>T
c.4169C>T (p.Ala1390Val)
c.4115C>T (p.Ala1372Val)
c.4075C>T (p.His1359Tyr)
c.3761C>T (p.Ala1254Val)
c.2450C>T (p.Ala817Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11788335A>CCA416119042C1orf167,MTHFRc.3534A>C (p.Ala1178=)
c.4035A>C (p.Ala1345=)
c.*2345T>G (n.*2345T>G)
c.2170A>C
c.4439T>G (n.4439T>G)
c.4092A>C (p.Ala1364=)
c.1534A>C
c.1270A>C
n.329A>C
c.4170A>C (p.Ala1390=)
c.4116A>C (p.Ala1372=)
c.4076A>C (p.His1359Pro)
c.3762A>C (p.Ala1254=)
c.2451A>C (p.Ala817=)
1g.11788335A>GCA416119044C1orf167,MTHFRc.3534A>G (p.Ala1178=)
c.4035A>G (p.Ala1345=)
c.*2345T>C (n.*2345T>C)
c.2170A>G
c.4439T>C (n.4439T>C)
c.4092A>G (p.Ala1364=)
c.1534A>G
c.1270A>G
n.329A>G
c.4170A>G (p.Ala1390=)
c.4116A>G (p.Ala1372=)
c.4076A>G (p.His1359Arg)
c.3762A>G (p.Ala1254=)
c.2451A>G (p.Ala817=)
1g.11788335A>TCA416119043C1orf167,MTHFRc.3534A>T (p.Ala1178=)
c.4035A>T (p.Ala1345=)
c.*2345T>A (n.*2345T>A)
c.2170A>T
c.4439T>A (n.4439T>A)
c.4092A>T (p.Ala1364=)
c.1534A>T
c.1270A>T
n.329A>T
c.4170A>T (p.Ala1390=)
c.4116A>T (p.Ala1372=)
c.4076A>T (p.His1359Leu)
c.3762A>T (p.Ala1254=)
c.2451A>T (p.Ala817=)
1g.11788336C>ACA338470412C1orf167,MTHFRc.3535C>A (p.Leu1179Met)
c.4036C>A (p.Leu1346Met)
c.*2344G>T (n.*2344G>T)
c.2171C>A
c.4438G>T (n.4438G>T)
c.4093C>A (p.Leu1365Met)
c.1535C>A
c.1271C>A
n.330C>A
c.4171C>A (p.Leu1391Met)
c.4117C>A (p.Leu1373Met)
c.4077C>A (p.His1359Gln)
c.3763C>A (p.Leu1255Met)
c.2452C>A (p.Leu818Met)
1g.11788336C=CA1153787290C1orf167,MTHFRc.3535C= (p.Leu1179=)
c.4036C= (p.Leu1346=)
c.*2344G= (n.*2344G=)
c.2171C=
c.4438G= (n.4438G=)
c.4093C= (p.Leu1365=)
c.1535C=
c.1271C=
n.330C=
c.4171C= (p.Leu1391=)
c.4117C= (p.Leu1373=)
c.4077C= (p.His1359=)
c.3763C= (p.Leu1255=)
c.2452C= (p.Leu818=)
1g.11788336C>GCA338470413C1orf167,MTHFRc.3535C>G (p.Leu1179Val)
c.4036C>G (p.Leu1346Val)
c.*2344G>C (n.*2344G>C)
c.2171C>G
c.4438G>C (n.4438G>C)
c.4093C>G (p.Leu1365Val)
c.1535C>G
c.1271C>G
n.330C>G
c.4171C>G (p.Leu1391Val)
c.4117C>G (p.Leu1373Val)
c.4077C>G (p.His1359Gln)
c.3763C>G (p.Leu1255Val)
c.2452C>G (p.Leu818Val)
1g.11788336C>TCA416119045C1orf167,MTHFRc.3535C>T (p.Leu1179=)
c.4036C>T (p.Leu1346=)
c.*2344G>A (n.*2344G>A)
c.2171C>T
c.4438G>A (n.4438G>A)
c.4093C>T (p.Leu1365=)
c.1535C>T
c.1271C>T
n.330C>T
c.4171C>T (p.Leu1391=)
c.4117C>T (p.Leu1373=)
c.4077C>T (p.His1359=)
c.3763C>T (p.Leu1255=)
c.2452C>T (p.Leu818=)
 dbSNP gnomAD v3 gnomAD v4
1g.11788337T>ACA338470414C1orf167,MTHFRc.3536T>A (p.Leu1179Gln)
c.4037T>A (p.Leu1346Gln)
c.*2343A>T (n.*2343A>T)
c.2172T>A
c.4437A>T (n.4437A>T)
c.4094T>A (p.Leu1365Gln)
c.1536T>A
c.1272T>A
n.331T>A
c.4172T>A (p.Leu1391Gln)
c.4118T>A (p.Leu1373Gln)
c.4078T>A (p.Trp1360Arg)
c.3764T>A (p.Leu1255Gln)
c.2453T>A (p.Leu818Gln)
1g.11788337T>CCA338470415C1orf167,MTHFRc.3536T>C (p.Leu1179Pro)
c.4037T>C (p.Leu1346Pro)
c.*2343A>G (n.*2343A>G)
c.2172T>C
c.4437A>G (n.4437A>G)
c.4094T>C (p.Leu1365Pro)
c.1536T>C
c.1272T>C
n.331T>C
c.4172T>C (p.Leu1391Pro)
c.4118T>C (p.Leu1373Pro)
c.4078T>C (p.Trp1360Arg)
c.3764T>C (p.Leu1255Pro)
c.2453T>C (p.Leu818Pro)
1g.11788337T>GCA338470416C1orf167,MTHFRc.3536T>G (p.Leu1179Arg)
c.4037T>G (p.Leu1346Arg)
c.*2343A>C (n.*2343A>C)
c.2172T>G
c.4437A>C (n.4437A>C)
c.4094T>G (p.Leu1365Arg)
c.1536T>G
c.1272T>G
n.331T>G
c.4172T>G (p.Leu1391Arg)
c.4118T>G (p.Leu1373Arg)
c.4078T>G (p.Trp1360Gly)
c.3764T>G (p.Leu1255Arg)
c.2453T>G (p.Leu818Arg)
1g.11788337dupCA1153787295C1orf167,MTHFRc.3536dup (p.Gly1181TrpfsTer19)
c.4037dup (p.Gly1348TrpfsTer19)
c.*2343dup (n.*2343dup)
c.2172dup
c.4437dup (n.4437dup)
c.4094dup (p.Gly1367TrpfsTer19)
c.1536dup
c.1272dup
n.331dup
c.4172dup (p.Gly1393TrpfsTer19)
c.4118dup (p.Gly1375TrpfsTer19)
c.4078dup (p.Trp1360LeufsTer?)
c.4078dup (p.Trp1360LeufsTer17)
c.4172dup (p.Gly1393TrpfsTer?)
c.3764dup (p.Gly1257TrpfsTer19)
c.2453dup (p.Gly820TrpfsTer19)
 dbSNP
1g.11788338G>ACA416119049C1orf167,MTHFRc.3537G>A (p.Leu1179=)
c.4038G>A (p.Leu1346=)
c.*2342C>T (n.*2342C>T)
c.2173G>A
c.4436C>T (n.4436C>T)
c.4095G>A (p.Leu1365=)
c.1537G>A
c.1273G>A
n.332G>A
c.4173G>A (p.Leu1391=)
c.4119G>A (p.Leu1373=)
c.4079G>A (p.Trp1360Ter)
c.3765G>A (p.Leu1255=)
c.2454G>A (p.Leu818=)
 dbSNP gnomAD v2 gnomAD v4
1g.11788338G>CCA416119050C1orf167,MTHFRc.3537G>C (p.Leu1179=)
c.4038G>C (p.Leu1346=)
c.*2342C>G (n.*2342C>G)
c.2173G>C
c.4436C>G (n.4436C>G)
c.4095G>C (p.Leu1365=)
c.1537G>C
c.1273G>C
n.332G>C
c.4173G>C (p.Leu1391=)
c.4119G>C (p.Leu1373=)
c.4079G>C (p.Trp1360Ser)
c.3765G>C (p.Leu1255=)
c.2454G>C (p.Leu818=)
1g.11788338G=CA1153787298C1orf167,MTHFRc.3537G= (p.Leu1179=)
c.4038G= (p.Leu1346=)
c.*2342C= (n.*2342C=)
c.2173G=
c.4436C= (n.4436C=)
c.4095G= (p.Leu1365=)
c.1537G=
c.1273G=
n.332G=
c.4173G= (p.Leu1391=)
c.4119G= (p.Leu1373=)
c.4079G= (p.Trp1360=)
c.3765G= (p.Leu1255=)
c.2454G= (p.Leu818=)
1g.11788338G>TCA416119051C1orf167,MTHFRc.3537G>T (p.Leu1179=)
c.4038G>T (p.Leu1346=)
c.*2342C>A (n.*2342C>A)
c.2173G>T
c.4436C>A (n.4436C>A)
c.4095G>T (p.Leu1365=)
c.1537G>T
c.1273G>T
n.332G>T
c.4173G>T (p.Leu1391=)
c.4119G>T (p.Leu1373=)
c.4079G>T (p.Trp1360Leu)
c.3765G>T (p.Leu1255=)
c.2454G>T (p.Leu818=)
 dbSNP
1g.11788339G>ACA338470417C1orf167,MTHFRc.3538G>A (p.Gly1180Ser)
c.4039G>A (p.Gly1347Ser)
c.*2341C>T (n.*2341C>T)
c.2174G>A
c.4435C>T (n.4435C>T)
c.4096G>A (p.Gly1366Ser)
c.1538G>A
c.1274G>A
n.333G>A
c.4174G>A (p.Gly1392Ser)
c.4120G>A (p.Gly1374Ser)
c.4080G>A (p.Trp1360Ter)
c.3766G>A (p.Gly1256Ser)
c.2455G>A (p.Gly819Ser)
 dbSNP
1g.11788339G>CCA338470418C1orf167,MTHFRc.3538G>C (p.Gly1180Arg)
c.4039G>C (p.Gly1347Arg)
c.*2341C>G (n.*2341C>G)
c.2174G>C
c.4435C>G (n.4435C>G)
c.4096G>C (p.Gly1366Arg)
c.1538G>C
c.1274G>C
n.333G>C
c.4174G>C (p.Gly1392Arg)
c.4120G>C (p.Gly1374Arg)
c.4080G>C (p.Trp1360Cys)
c.3766G>C (p.Gly1256Arg)
c.2455G>C (p.Gly819Arg)
1g.11788339G=CA1153787301C1orf167,MTHFRc.3538G= (p.Gly1180=)
c.4039G= (p.Gly1347=)
c.*2341C= (n.*2341C=)
c.2174G=
c.4435C= (n.4435C=)
c.4096G= (p.Gly1366=)
c.1538G=
c.1274G=
n.333G=
c.4174G= (p.Gly1392=)
c.4120G= (p.Gly1374=)
c.4080G= (p.Trp1360=)
c.3766G= (p.Gly1256=)
c.2455G= (p.Gly819=)
1g.11788339G>TCA338470419C1orf167,MTHFRc.3538G>T (p.Gly1180Cys)
c.4039G>T (p.Gly1347Cys)
c.*2341C>A (n.*2341C>A)
c.2174G>T
c.4435C>A (n.4435C>A)
c.4096G>T (p.Gly1366Cys)
c.1538G>T
c.1274G>T
n.333G>T
c.4174G>T (p.Gly1392Cys)
c.4120G>T (p.Gly1374Cys)
c.4080G>T (p.Trp1360Cys)
c.3766G>T (p.Gly1256Cys)
c.2455G>T (p.Gly819Cys)
1g.11788340G>ACA338470420C1orf167,MTHFRc.3539G>A (p.Gly1180Asp)
c.4040G>A (p.Gly1347Asp)
c.*2340C>T (n.*2340C>T)
c.2175G>A
c.4434C>T (n.4434C>T)
c.4097G>A (p.Gly1366Asp)
c.1539G>A
c.1275G>A
n.334G>A
c.4175G>A (p.Gly1392Asp)
c.4121G>A (p.Gly1374Asp)
c.4081G>A (p.Val1361Met)
c.3767G>A (p.Gly1256Asp)
c.2456G>A (p.Gly819Asp)
1g.11788340G>CCA338470421C1orf167,MTHFRc.3539G>C (p.Gly1180Ala)
c.4040G>C (p.Gly1347Ala)
c.*2340C>G (n.*2340C>G)
c.2175G>C
c.4434C>G (n.4434C>G)
c.4097G>C (p.Gly1366Ala)
c.1539G>C
c.1275G>C
n.334G>C
c.4175G>C (p.Gly1392Ala)
c.4121G>C (p.Gly1374Ala)
c.4081G>C (p.Val1361Leu)
c.3767G>C (p.Gly1256Ala)
c.2456G>C (p.Gly819Ala)
1g.11788340G=CA1153787303C1orf167,MTHFRc.3539G= (p.Gly1180=)
c.4040G= (p.Gly1347=)
c.*2340C= (n.*2340C=)
c.2175G=
c.4434C= (n.4434C=)
c.4097G= (p.Gly1366=)
c.1539G=
c.1275G=
n.334G=
c.4175G= (p.Gly1392=)
c.4121G= (p.Gly1374=)
c.4081G= (p.Val1361=)
c.3767G= (p.Gly1256=)
c.2456G= (p.Gly819=)
1g.11788340G>TCA338470422C1orf167,MTHFRc.3539G>T (p.Gly1180Val)
c.4040G>T (p.Gly1347Val)
c.*2340C>A (n.*2340C>A)
c.2175G>T
c.4434C>A (n.4434C>A)
c.4097G>T (p.Gly1366Val)
c.1539G>T
c.1275G>T
n.334G>T
c.4175G>T (p.Gly1392Val)
c.4121G>T (p.Gly1374Val)
c.4081G>T (p.Val1361Leu)
c.3767G>T (p.Gly1256Val)
c.2456G>T (p.Gly819Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788341T>ACA416119053C1orf167,MTHFRc.3540T>A (p.Gly1180=)
c.4041T>A (p.Gly1347=)
c.*2339A>T (n.*2339A>T)
c.2176T>A
c.4433A>T (n.4433A>T)
c.4098T>A (p.Gly1366=)
c.1540T>A
c.1276T>A
n.335T>A
c.4176T>A (p.Gly1392=)
c.4122T>A (p.Gly1374=)
c.4082T>A (p.Val1361Glu)
c.3768T>A (p.Gly1256=)
c.2457T>A (p.Gly819=)
1g.11788341T>CCA416119054C1orf167,MTHFRc.3540T>C (p.Gly1180=)
c.4041T>C (p.Gly1347=)
c.*2339A>G (n.*2339A>G)
c.2176T>C
c.4433A>G (n.4433A>G)
c.4098T>C (p.Gly1366=)
c.1540T>C
c.1276T>C
n.335T>C
c.4176T>C (p.Gly1392=)
c.4122T>C (p.Gly1374=)
c.4082T>C (p.Val1361Ala)
c.3768T>C (p.Gly1256=)
c.2457T>C (p.Gly819=)
 gnomAD v4
1g.11788341T>GCA416119055C1orf167,MTHFRc.3540T>G (p.Gly1180=)
c.4041T>G (p.Gly1347=)
c.*2339A>C (n.*2339A>C)
c.2176T>G
c.4433A>C (n.4433A>C)
c.4098T>G (p.Gly1366=)
c.1540T>G
c.1276T>G
n.335T>G
c.4176T>G (p.Gly1392=)
c.4122T>G (p.Gly1374=)
c.4082T>G (p.Val1361Gly)
c.3768T>G (p.Gly1256=)
c.2457T>G (p.Gly819=)
 dbSNP
1g.11788341T=CA1153787305C1orf167,MTHFRc.3540T= (p.Gly1180=)
c.4041T= (p.Gly1347=)
c.*2339A= (n.*2339A=)
c.2176T=
c.4433A= (n.4433A=)
c.4098T= (p.Gly1366=)
c.1540T=
c.1276T=
n.335T=
c.4176T= (p.Gly1392=)
c.4122T= (p.Gly1374=)
c.4082T= (p.Val1361=)
c.3768T= (p.Gly1256=)
c.2457T= (p.Gly819=)
1g.11788342G>ACA338470423C1orf167,MTHFRc.3541G>A (p.Gly1181Arg)
c.4042G>A (p.Gly1348Arg)
c.*2338C>T (n.*2338C>T)
c.2177G>A
c.4432C>T (n.4432C>T)
c.4099G>A (p.Gly1367Arg)
c.1541G>A
c.1277G>A
n.336G>A
c.4177G>A (p.Gly1393Arg)
c.4123G>A (p.Gly1375Arg)
c.4083G>A (p.Val1361=)
c.3769G>A (p.Gly1257Arg)
c.2458G>A (p.Gly820Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.11788342G>CCA338470424C1orf167,MTHFRc.3541G>C (p.Gly1181Arg)
c.4042G>C (p.Gly1348Arg)
c.*2338C>G (n.*2338C>G)
c.2177G>C
c.4432C>G (n.4432C>G)
c.4099G>C (p.Gly1367Arg)
c.1541G>C
c.1277G>C
n.336G>C
c.4177G>C (p.Gly1393Arg)
c.4123G>C (p.Gly1375Arg)
c.4083G>C (p.Val1361=)
c.3769G>C (p.Gly1257Arg)
c.2458G>C (p.Gly820Arg)
1g.11788342G=CA1153787310C1orf167,MTHFRc.3541G= (p.Gly1181=)
c.4042G= (p.Gly1348=)
c.*2338C= (n.*2338C=)
c.2177G=
c.4432C= (n.4432C=)
c.4099G= (p.Gly1367=)
c.1541G=
c.1277G=
n.336G=
c.4177G= (p.Gly1393=)
c.4123G= (p.Gly1375=)
c.4083G= (p.Val1361=)
c.3769G= (p.Gly1257=)
c.2458G= (p.Gly820=)
1g.11788342G>TCA338470425C1orf167,MTHFRc.3541G>T (p.Gly1181Ter)
c.4042G>T (p.Gly1348Ter)
c.*2338C>A (n.*2338C>A)
c.2177G>T
c.4432C>A (n.4432C>A)
c.4099G>T (p.Gly1367Ter)
c.1541G>T
c.1277G>T
n.336G>T
c.4177G>T (p.Gly1393Ter)
c.4123G>T (p.Gly1375Ter)
c.4083G>T (p.Val1361=)
c.3769G>T (p.Gly1257Ter)
c.2458G>T (p.Gly820Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.11788343G>ACA338470426C1orf167,MTHFRc.3542G>A (p.Gly1181Glu)
c.4043G>A (p.Gly1348Glu)
c.*2337C>T (n.*2337C>T)
c.2178G>A
c.4431C>T (n.4431C>T)
c.4100G>A (p.Gly1367Glu)
c.1542G>A
c.1278G>A
n.337G>A
c.4178G>A (p.Gly1393Glu)
c.4124G>A (p.Gly1375Glu)
c.4084G>A (p.Asp1362Asn)
c.3770G>A (p.Gly1257Glu)
c.2459G>A (p.Gly820Glu)
1g.11788343G>CCA338470428C1orf167,MTHFRc.3542G>C (p.Gly1181Ala)
c.4043G>C (p.Gly1348Ala)
c.*2337C>G (n.*2337C>G)
c.2178G>C
c.4431C>G (n.4431C>G)
c.4100G>C (p.Gly1367Ala)
c.1542G>C
c.1278G>C
n.337G>C
c.4178G>C (p.Gly1393Ala)
c.4124G>C (p.Gly1375Ala)
c.4084G>C (p.Asp1362His)
c.3770G>C (p.Gly1257Ala)
c.2459G>C (p.Gly820Ala)
1g.11788343G>TCA338470427C1orf167,MTHFRc.3542G>T (p.Gly1181Val)
c.4043G>T (p.Gly1348Val)
c.*2337C>A (n.*2337C>A)
c.2178G>T
c.4431C>A (n.4431C>A)
c.4100G>T (p.Gly1367Val)
c.1542G>T
c.1278G>T
n.337G>T
c.4178G>T (p.Gly1393Val)
c.4124G>T (p.Gly1375Val)
c.4084G>T (p.Asp1362Tyr)
c.3770G>T (p.Gly1257Val)
c.2459G>T (p.Gly820Val)
1g.11788344A=CA1153787312C1orf167,MTHFRc.3543A= (p.Gly1181=)
c.4044A= (p.Gly1348=)
c.*2336T= (n.*2336T=)
c.2179A=
c.4430T= (n.4430T=)
c.4101A= (p.Gly1367=)
c.1543A=
c.1279A=
n.338A=
c.4179A= (p.Gly1393=)
c.4125A= (p.Gly1375=)
c.4085A= (p.Asp1362=)
c.3771A= (p.Gly1257=)
c.2460A= (p.Gly820=)
1g.11788344A>CCA416119059C1orf167,MTHFRc.3543A>C (p.Gly1181=)
c.4044A>C (p.Gly1348=)
c.*2336T>G (n.*2336T>G)
c.2179A>C
c.4430T>G (n.4430T>G)
c.4101A>C (p.Gly1367=)
c.1543A>C
c.1279A>C
n.338A>C
c.4179A>C (p.Gly1393=)
c.4125A>C (p.Gly1375=)
c.4085A>C (p.Asp1362Ala)
c.3771A>C (p.Gly1257=)
c.2460A>C (p.Gly820=)
1g.11788344A>GCA416119057C1orf167,MTHFRc.3543A>G (p.Gly1181=)
c.4044A>G (p.Gly1348=)
c.*2336T>C (n.*2336T>C)
c.2179A>G
c.4430T>C (n.4430T>C)
c.4101A>G (p.Gly1367=)
c.1543A>G
c.1279A>G
n.338A>G
c.4179A>G (p.Gly1393=)
c.4125A>G (p.Gly1375=)
c.4085A>G (p.Asp1362Gly)
c.3771A>G (p.Gly1257=)
c.2460A>G (p.Gly820=)
 dbSNP gnomAD v2 gnomAD v4
1g.11788344A>TCA416119058C1orf167,MTHFRc.3543A>T (p.Gly1181=)
c.4044A>T (p.Gly1348=)
c.*2336T>A (n.*2336T>A)
c.2179A>T
c.4430T>A (n.4430T>A)
c.4101A>T (p.Gly1367=)
c.1543A>T
c.1279A>T
n.338A>T
c.4179A>T (p.Gly1393=)
c.4125A>T (p.Gly1375=)
c.4085A>T (p.Asp1362Val)
c.3771A>T (p.Gly1257=)
c.2460A>T (p.Gly820=)
1g.11788345T>ACA338470429C1orf167,MTHFRc.3544T>A (p.Cys1182Ser)
c.4045T>A (p.Cys1349Ser)
c.*2335A>T (n.*2335A>T)
c.2180T>A
c.4429A>T (n.4429A>T)
c.4102T>A (p.Cys1368Ser)
c.1544T>A
c.1280T>A
n.339T>A
c.4180T>A (p.Cys1394Ser)
c.4126T>A (p.Cys1376Ser)
c.4086T>A (p.Asp1362Glu)
c.3772T>A (p.Cys1258Ser)
c.2461T>A (p.Cys821Ser)
 dbSNP gnomAD v4
1g.11788345T>CCA338470430C1orf167,MTHFRc.3544T>C (p.Cys1182Arg)
c.4045T>C (p.Cys1349Arg)
c.*2335A>G (n.*2335A>G)
c.2180T>C
c.4429A>G (n.4429A>G)
c.4102T>C (p.Cys1368Arg)
c.1544T>C
c.1280T>C
n.339T>C
c.4180T>C (p.Cys1394Arg)
c.4126T>C (p.Cys1376Arg)
c.4086T>C (p.Asp1362=)
c.3772T>C (p.Cys1258Arg)
c.2461T>C (p.Cys821Arg)
1g.11788345T>GCA338470431C1orf167,MTHFRc.3544T>G (p.Cys1182Gly)
c.4045T>G (p.Cys1349Gly)
c.*2335A>C (n.*2335A>C)
c.2180T>G
c.4429A>C (n.4429A>C)
c.4102T>G (p.Cys1368Gly)
c.1544T>G
c.1280T>G
n.339T>G
c.4180T>G (p.Cys1394Gly)
c.4126T>G (p.Cys1376Gly)
c.4086T>G (p.Asp1362Glu)
c.3772T>G (p.Cys1258Gly)
c.2461T>G (p.Cys821Gly)
1g.11788345T=CA1153787315C1orf167,MTHFRc.3544T= (p.Cys1182=)
c.4045T= (p.Cys1349=)
c.*2335A= (n.*2335A=)
c.2180T=
c.4429A= (n.4429A=)
c.4102T= (p.Cys1368=)
c.1544T=
c.1280T=
n.339T=
c.4180T= (p.Cys1394=)
c.4126T= (p.Cys1376=)
c.4086T= (p.Asp1362=)
c.3772T= (p.Cys1258=)
c.2461T= (p.Cys821=)
1g.11788346G>ACA338470432C1orf167,MTHFRc.3545G>A (p.Cys1182Tyr)
c.4046G>A (p.Cys1349Tyr)
c.*2334C>T (n.*2334C>T)
c.2181G>A
c.4428C>T (n.4428C>T)
c.4103G>A (p.Cys1368Tyr)
c.1545G>A
c.1281G>A
n.340G>A
c.4181G>A (p.Cys1394Tyr)
c.4127G>A (p.Cys1376Tyr)
c.4087G>A (p.Ala1363Thr)
c.3773G>A (p.Cys1258Tyr)
c.2462G>A (p.Cys821Tyr)
 gnomAD v4
1g.11788346G>CCA338470433C1orf167,MTHFRc.3545G>C (p.Cys1182Ser)
c.4046G>C (p.Cys1349Ser)
c.*2334C>G (n.*2334C>G)
c.2181G>C
c.4428C>G (n.4428C>G)
c.4103G>C (p.Cys1368Ser)
c.1545G>C
c.1281G>C
n.340G>C
c.4181G>C (p.Cys1394Ser)
c.4127G>C (p.Cys1376Ser)
c.4087G>C (p.Ala1363Pro)
c.3773G>C (p.Cys1258Ser)
c.2462G>C (p.Cys821Ser)
1g.11788346G>TCA338470434C1orf167,MTHFRc.3545G>T (p.Cys1182Phe)
c.4046G>T (p.Cys1349Phe)
c.*2334C>A (n.*2334C>A)
c.2181G>T
c.4428C>A (n.4428C>A)
c.4103G>T (p.Cys1368Phe)
c.1545G>T
c.1281G>T
n.340G>T
c.4181G>T (p.Cys1394Phe)
c.4127G>T (p.Cys1376Phe)
c.4087G>T (p.Ala1363Ser)
c.3773G>T (p.Cys1258Phe)
c.2462G>T (p.Cys821Phe)
1g.11788347C>ACA17997421C1orf167,MTHFRc.3546C>A (p.Cys1182Ter)
c.4047C>A (p.Cys1349Ter)
c.*2333G>T (n.*2333G>T)
c.2182C>A
c.4427G>T (n.4427G>T)
c.4104C>A (p.Cys1368Ter)
c.1546C>A
c.1282C>A
n.341C>A
c.4182C>A (p.Cys1394Ter)
c.4128C>A (p.Cys1376Ter)
c.4088C>A (p.Ala1363Asp)
c.3774C>A (p.Cys1258Ter)
c.2463C>A (p.Cys821Ter)
 dbSNP
1g.11788347C=CA1153787317C1orf167,MTHFRc.3546C= (p.Cys1182=)
c.4047C= (p.Cys1349=)
c.*2333G= (n.*2333G=)
c.2182C=
c.4427G= (n.4427G=)
c.4104C= (p.Cys1368=)
c.1546C=
c.1282C=
n.341C=
c.4182C= (p.Cys1394=)
c.4128C= (p.Cys1376=)
c.4088C= (p.Ala1363=)
c.3774C= (p.Cys1258=)
c.2463C= (p.Cys821=)
1g.11788347C>GCA338470435C1orf167,MTHFRc.3546C>G (p.Cys1182Trp)
c.4047C>G (p.Cys1349Trp)
c.*2333G>C (n.*2333G>C)
c.2182C>G
c.4427G>C (n.4427G>C)
c.4104C>G (p.Cys1368Trp)
c.1546C>G
c.1282C>G
n.341C>G
c.4182C>G (p.Cys1394Trp)
c.4128C>G (p.Cys1376Trp)
c.4088C>G (p.Ala1363Gly)
c.3774C>G (p.Cys1258Trp)
c.2463C>G (p.Cys821Trp)
1g.11788347C>TCA416119061C1orf167,MTHFRc.3546C>T (p.Cys1182=)
c.4047C>T (p.Cys1349=)
c.*2333G>A (n.*2333G>A)
c.2182C>T
c.4427G>A (n.4427G>A)
c.4104C>T (p.Cys1368=)
c.1546C>T
c.1282C>T
n.341C>T
c.4182C>T (p.Cys1394=)
c.4128C>T (p.Cys1376=)
c.4088C>T (p.Ala1363Val)
c.3774C>T (p.Cys1258=)
c.2463C>T (p.Cys821=)
 gnomAD v4
1g.11788348C>ACA338470436C1orf167,MTHFRc.3547C>A (p.Pro1183Thr)
c.4048C>A (p.Pro1350Thr)
c.*2332G>T (n.*2332G>T)
c.2183C>A
c.4426G>T (n.4426G>T)
c.4105C>A (p.Pro1369Thr)
c.1547C>A
c.1283C>A
n.342C>A
c.4183C>A (p.Pro1395Thr)
c.4129C>A (p.Pro1377Thr)
c.4089C>A (p.Ala1363=)
c.3775C>A (p.Pro1259Thr)
c.2464C>A (p.Pro822Thr)
 gnomAD v4
1g.11788348C>GCA338470437C1orf167,MTHFRc.3547C>G (p.Pro1183Ala)
c.4048C>G (p.Pro1350Ala)
c.*2332G>C (n.*2332G>C)
c.2183C>G
c.4426G>C (n.4426G>C)
c.4105C>G (p.Pro1369Ala)
c.1547C>G
c.1283C>G
n.342C>G
c.4183C>G (p.Pro1395Ala)
c.4129C>G (p.Pro1377Ala)
c.4089C>G (p.Ala1363=)
c.3775C>G (p.Pro1259Ala)
c.2464C>G (p.Pro822Ala)
1g.11788348C>TCA338470438C1orf167,MTHFRc.3547C>T (p.Pro1183Ser)
c.4048C>T (p.Pro1350Ser)
c.*2332G>A (n.*2332G>A)
c.2183C>T
c.4426G>A (n.4426G>A)
c.4105C>T (p.Pro1369Ser)
c.1547C>T
c.1283C>T
n.342C>T
c.4183C>T (p.Pro1395Ser)
c.4129C>T (p.Pro1377Ser)
c.4089C>T (p.Ala1363=)
c.3775C>T (p.Pro1259Ser)
c.2464C>T (p.Pro822Ser)
1g.11788349C>ACA338470441C1orf167,MTHFRc.3548C>A (p.Pro1183Gln)
c.4049C>A (p.Pro1350Gln)
c.*2331G>T (n.*2331G>T)
c.2184C>A
c.4425G>T (n.4425G>T)
c.4106C>A (p.Pro1369Gln)
c.1548C>A
c.1284C>A
n.343C>A
c.4184C>A (p.Pro1395Gln)
c.4130C>A (p.Pro1377Gln)
c.4090C>A (p.Gln1364Lys)
c.3776C>A (p.Pro1259Gln)
c.2465C>A (p.Pro822Gln)
1g.11788349C>GCA338470440C1orf167,MTHFRc.3548C>G (p.Pro1183Arg)
c.4049C>G (p.Pro1350Arg)
c.*2331G>C (n.*2331G>C)
c.2184C>G
c.4425G>C (n.4425G>C)
c.4106C>G (p.Pro1369Arg)
c.1548C>G
c.1284C>G
n.343C>G
c.4184C>G (p.Pro1395Arg)
c.4130C>G (p.Pro1377Arg)
c.4090C>G (p.Gln1364Glu)
c.3776C>G (p.Pro1259Arg)
c.2465C>G (p.Pro822Arg)
1g.11788349C>TCA338470439C1orf167,MTHFRc.3548C>T (p.Pro1183Leu)
c.4049C>T (p.Pro1350Leu)
c.*2331G>A (n.*2331G>A)
c.2184C>T
c.4425G>A (n.4425G>A)
c.4106C>T (p.Pro1369Leu)
c.1548C>T
c.1284C>T
n.343C>T
c.4184C>T (p.Pro1395Leu)
c.4130C>T (p.Pro1377Leu)
c.4090C>T (p.Gln1364Ter)
c.3776C>T (p.Pro1259Leu)
c.2465C>T (p.Pro822Leu)
 gnomAD v4
1g.11788350A=CA1153787320C1orf167,MTHFRc.3549A= (p.Pro1183=)
c.4050A= (p.Pro1350=)
c.*2330T= (n.*2330T=)
c.2185A=
c.4424T= (n.4424T=)
c.4107A= (p.Pro1369=)
c.1549A=
c.1285A=
n.344A=
c.4185A= (p.Pro1395=)
c.4131A= (p.Pro1377=)
c.4091A= (p.Gln1364=)
c.3777A= (p.Pro1259=)
c.2466A= (p.Pro822=)
1g.11788350A>CCA416119067C1orf167,MTHFRc.3549A>C (p.Pro1183=)
c.4050A>C (p.Pro1350=)
c.*2330T>G (n.*2330T>G)
c.2185A>C
c.4424T>G (n.4424T>G)
c.4107A>C (p.Pro1369=)
c.1549A>C
c.1285A>C
n.344A>C
c.4185A>C (p.Pro1395=)
c.4131A>C (p.Pro1377=)
c.4091A>C (p.Gln1364Pro)
c.3777A>C (p.Pro1259=)
c.2466A>C (p.Pro822=)
1g.11788350A>GCA416119065C1orf167,MTHFRc.3549A>G (p.Pro1183=)
c.4050A>G (p.Pro1350=)
c.*2330T>C (n.*2330T>C)
c.2185A>G
c.4424T>C (n.4424T>C)
c.4107A>G (p.Pro1369=)
c.1549A>G
c.1285A>G
n.344A>G
c.4185A>G (p.Pro1395=)
c.4131A>G (p.Pro1377=)
c.4091A>G (p.Gln1364Arg)
c.3777A>G (p.Pro1259=)
c.2466A>G (p.Pro822=)
 dbSNP gnomAD v3 gnomAD v4
1g.11788350A>TCA416119066C1orf167,MTHFRc.3549A>T (p.Pro1183=)
c.4050A>T (p.Pro1350=)
c.*2330T>A (n.*2330T>A)
c.2185A>T
c.4424T>A (n.4424T>A)
c.4107A>T (p.Pro1369=)
c.1549A>T
c.1285A>T
n.344A>T
c.4185A>T (p.Pro1395=)
c.4131A>T (p.Pro1377=)
c.4091A>T (p.Gln1364Leu)
c.3777A>T (p.Pro1259=)
c.2466A>T (p.Pro822=)
1g.11788351A>CCA416119068C1orf167,MTHFRc.3550A>C (p.Arg1184=)
c.4051A>C (p.Arg1351=)
c.*2329T>G (n.*2329T>G)
c.2186A>C
c.4423T>G (n.4423T>G)
c.4108A>C (p.Arg1370=)
c.1550A>C
c.1286A>C
n.345A>C
c.4186A>C (p.Arg1396=)
c.4132A>C (p.Arg1378=)
c.4092A>C (p.Gln1364His)
c.3778A>C (p.Arg1260=)
c.2467A>C (p.Arg823=)
1g.11788351A>GCA338470442C1orf167,MTHFRc.3550A>G (p.Arg1184Gly)
c.4051A>G (p.Arg1351Gly)
c.*2329T>C (n.*2329T>C)
c.2186A>G
c.4423T>C (n.4423T>C)
c.4108A>G (p.Arg1370Gly)
c.1550A>G
c.1286A>G
n.345A>G
c.4186A>G (p.Arg1396Gly)
c.4132A>G (p.Arg1378Gly)
c.4092A>G (p.Gln1364=)
c.3778A>G (p.Arg1260Gly)
c.2467A>G (p.Arg823Gly)
1g.11788351A>TCA338470443C1orf167,MTHFRc.3550A>T (p.Arg1184Trp)
c.4051A>T (p.Arg1351Trp)
c.*2329T>A (n.*2329T>A)
c.2186A>T
c.4423T>A (n.4423T>A)
c.4108A>T (p.Arg1370Trp)
c.1550A>T
c.1286A>T
n.345A>T
c.4186A>T (p.Arg1396Trp)
c.4132A>T (p.Arg1378Trp)
c.4092A>T (p.Gln1364His)
c.3778A>T (p.Arg1260Trp)
c.2467A>T (p.Arg823Trp)
1g.11788352G>ACA338470444C1orf167,MTHFRc.3551G>A (p.Arg1184Lys)
c.4052G>A (p.Arg1351Lys)
c.*2328C>T (n.*2328C>T)
c.2187G>A
c.4422C>T (n.4422C>T)
c.4109G>A (p.Arg1370Lys)
c.1551G>A
c.1287G>A
n.346G>A
c.4187G>A (p.Arg1396Lys)
c.4133G>A (p.Arg1378Lys)
c.4093G>A (p.Gly1365Arg)
c.3779G>A (p.Arg1260Lys)
c.2468G>A (p.Arg823Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.11788352G>CCA338470445C1orf167,MTHFRc.3551G>C (p.Arg1184Thr)
c.4052G>C (p.Arg1351Thr)
c.*2328C>G (n.*2328C>G)
c.2187G>C
c.4422C>G (n.4422C>G)
c.4109G>C (p.Arg1370Thr)
c.1551G>C
c.1287G>C
n.346G>C
c.4187G>C (p.Arg1396Thr)
c.4133G>C (p.Arg1378Thr)
c.4093G>C (p.Gly1365Arg)
c.3779G>C (p.Arg1260Thr)
c.2468G>C (p.Arg823Thr)
1g.11788352G=CA1153787322C1orf167,MTHFRc.3551G= (p.Arg1184=)
c.4052G= (p.Arg1351=)
c.*2328C= (n.*2328C=)
c.2187G=
c.4422C= (n.4422C=)
c.4109G= (p.Arg1370=)
c.1551G=
c.1287G=
n.346G=
c.4187G= (p.Arg1396=)
c.4133G= (p.Arg1378=)
c.4093G= (p.Gly1365=)
c.3779G= (p.Arg1260=)
c.2468G= (p.Arg823=)
1g.11788352G>TCA338470446C1orf167,MTHFRc.3551G>T (p.Arg1184Met)
c.4052G>T (p.Arg1351Met)
c.*2328C>A (n.*2328C>A)
c.2187G>T
c.4422C>A (n.4422C>A)
c.4109G>T (p.Arg1370Met)
c.1551G>T
c.1287G>T
n.346G>T
c.4187G>T (p.Arg1396Met)
c.4133G>T (p.Arg1378Met)
c.4093G>T (p.Gly1365Trp)
c.3779G>T (p.Arg1260Met)
c.2468G>T (p.Arg823Met)
1g.11788353G>ACA416119072C1orf167,MTHFRc.3552G>A (p.Arg1184=)
c.4053G>A (p.Arg1351=)
c.*2327C>T (n.*2327C>T)
c.2188G>A
c.4421C>T (n.4421C>T)
c.4110G>A (p.Arg1370=)
c.1552G>A
c.1288G>A
n.347G>A
c.4188G>A (p.Arg1396=)
c.4134G>A (p.Arg1378=)
c.4094G>A (p.Gly1365Glu)
c.3780G>A (p.Arg1260=)
c.2469G>A (p.Arg823=)
 gnomAD v4 COSMIC COSMIC
1g.11788353G>CCA338470447C1orf167,MTHFRc.3552G>C (p.Arg1184Ser)
c.4053G>C (p.Arg1351Ser)
c.*2327C>G (n.*2327C>G)
c.2188G>C
c.4421C>G (n.4421C>G)
c.4110G>C (p.Arg1370Ser)
c.1552G>C
c.1288G>C
n.347G>C
c.4188G>C (p.Arg1396Ser)
c.4134G>C (p.Arg1378Ser)
c.4094G>C (p.Gly1365Ala)
c.3780G>C (p.Arg1260Ser)
c.2469G>C (p.Arg823Ser)
1g.11788353G>TCA338470448C1orf167,MTHFRc.3552G>T (p.Arg1184Ser)
c.4053G>T (p.Arg1351Ser)
c.*2327C>A (n.*2327C>A)
c.2188G>T
c.4421C>A (n.4421C>A)
c.4110G>T (p.Arg1370Ser)
c.1552G>T
c.1288G>T
n.347G>T
c.4188G>T (p.Arg1396Ser)
c.4134G>T (p.Arg1378Ser)
c.4094G>T (p.Gly1365Val)
c.3780G>T (p.Arg1260Ser)
c.2469G>T (p.Arg823Ser)
1g.11788354G>ACA338470449C1orf167,MTHFRc.3553G>A (p.Gly1185Ser)
c.4054G>A (p.Gly1352Ser)
c.*2326C>T (n.*2326C>T)
c.2189G>A
c.4420C>T (n.4420C>T)
c.4111G>A (p.Gly1371Ser)
c.1553G>A
c.1289G>A
n.348G>A
c.4189G>A (p.Gly1397Ser)
c.4135G>A (p.Gly1379Ser)
c.4095G>A (p.Gly1365=)
c.3781G>A (p.Gly1261Ser)
c.2470G>A (p.Gly824Ser)
1g.11788354G>CCA338470450C1orf167,MTHFRc.3553G>C (p.Gly1185Arg)
c.4054G>C (p.Gly1352Arg)
c.*2326C>G (n.*2326C>G)
c.2189G>C
c.4420C>G (n.4420C>G)
c.4111G>C (p.Gly1371Arg)
c.1553G>C
c.1289G>C
n.348G>C
c.4189G>C (p.Gly1397Arg)
c.4135G>C (p.Gly1379Arg)
c.4095G>C (p.Gly1365=)
c.3781G>C (p.Gly1261Arg)
c.2470G>C (p.Gly824Arg)
1g.11788354G>TCA338470451C1orf167,MTHFRc.3553G>T (p.Gly1185Cys)
c.4054G>T (p.Gly1352Cys)
c.*2326C>A (n.*2326C>A)
c.2189G>T
c.4420C>A (n.4420C>A)
c.4111G>T (p.Gly1371Cys)
c.1553G>T
c.1289G>T
n.348G>T
c.4189G>T (p.Gly1397Cys)
c.4135G>T (p.Gly1379Cys)
c.4095G>T (p.Gly1365=)
c.3781G>T (p.Gly1261Cys)
c.2470G>T (p.Gly824Cys)
1g.11788355G>ACA338470452C1orf167,MTHFRc.3554G>A (p.Gly1185Asp)
c.4055G>A (p.Gly1352Asp)
c.*2325C>T (n.*2325C>T)
c.2190G>A
c.4419C>T (n.4419C>T)
c.4112G>A (p.Gly1371Asp)
c.1554G>A
c.1290G>A
n.349G>A
c.4190G>A (p.Gly1397Asp)
c.4136G>A (p.Gly1379Asp)
c.4096G>A (p.Ala1366Thr)
c.3782G>A (p.Gly1261Asp)
c.2471G>A (p.Gly824Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.11788355G>CCA338470453C1orf167,MTHFRc.3554G>C (p.Gly1185Ala)
c.4055G>C (p.Gly1352Ala)
c.*2325C>G (n.*2325C>G)
c.2190G>C
c.4419C>G (n.4419C>G)
c.4112G>C (p.Gly1371Ala)
c.1554G>C
c.1290G>C
n.349G>C
c.4190G>C (p.Gly1397Ala)
c.4136G>C (p.Gly1379Ala)
c.4096G>C (p.Ala1366Pro)
c.3782G>C (p.Gly1261Ala)
c.2471G>C (p.Gly824Ala)
1g.11788355G=CA1153787326C1orf167,MTHFRc.3554G= (p.Gly1185=)
c.4055G= (p.Gly1352=)
c.*2325C= (n.*2325C=)
c.2190G=
c.4419C= (n.4419C=)
c.4112G= (p.Gly1371=)
c.1554G=
c.1290G=
n.349G=
c.4190G= (p.Gly1397=)
c.4136G= (p.Gly1379=)
c.4096G= (p.Ala1366=)
c.3782G= (p.Gly1261=)
c.2471G= (p.Gly824=)
1g.11788355G>TCA338470454C1orf167,MTHFRc.3554G>T (p.Gly1185Val)
c.4055G>T (p.Gly1352Val)
c.*2325C>A (n.*2325C>A)
c.2190G>T
c.4419C>A (n.4419C>A)
c.4112G>T (p.Gly1371Val)
c.1554G>T
c.1290G>T
n.349G>T
c.4190G>T (p.Gly1397Val)
c.4136G>T (p.Gly1379Val)
c.4096G>T (p.Ala1366Ser)
c.3782G>T (p.Gly1261Val)
c.2471G>T (p.Gly824Val)
1g.11788356C>ACA416119077C1orf167,MTHFRc.3555C>A (p.Gly1185=)
c.4056C>A (p.Gly1352=)
c.*2324G>T (n.*2324G>T)
c.2191C>A
c.4418G>T (n.4418G>T)
c.4113C>A (p.Gly1371=)
c.1555C>A
c.1291C>A
n.350C>A
c.4191C>A (p.Gly1397=)
c.4137C>A (p.Gly1379=)
c.4097C>A (p.Ala1366Glu)
c.3783C>A (p.Gly1261=)
c.2472C>A (p.Gly824=)
1g.11788356C=CA1153787331C1orf167,MTHFRc.3555C= (p.Gly1185=)
c.4056C= (p.Gly1352=)
c.*2324G= (n.*2324G=)
c.2191C=
c.4418G= (n.4418G=)
c.4113C= (p.Gly1371=)
c.1555C=
c.1291C=
n.350C=
c.4191C= (p.Gly1397=)
c.4137C= (p.Gly1379=)
c.4097C= (p.Ala1366=)
c.3783C= (p.Gly1261=)
c.2472C= (p.Gly824=)
1g.11788356C>GCA416119078C1orf167,MTHFRc.3555C>G (p.Gly1185=)
c.4056C>G (p.Gly1352=)
c.*2324G>C (n.*2324G>C)
c.2191C>G
c.4418G>C (n.4418G>C)
c.4113C>G (p.Gly1371=)
c.1555C>G
c.1291C>G
n.350C>G
c.4191C>G (p.Gly1397=)
c.4137C>G (p.Gly1379=)
c.4097C>G (p.Ala1366Gly)
c.3783C>G (p.Gly1261=)
c.2472C>G (p.Gly824=)
1g.11788356C>TCA416119079C1orf167,MTHFRc.3555C>T (p.Gly1185=)
c.4056C>T (p.Gly1352=)
c.*2324G>A (n.*2324G>A)
c.2191C>T
c.4418G>A (n.4418G>A)
c.4113C>T (p.Gly1371=)
c.1555C>T
c.1291C>T
n.350C>T
c.4191C>T (p.Gly1397=)
c.4137C>T (p.Gly1379=)
c.4097C>T (p.Ala1366Val)
c.3783C>T (p.Gly1261=)
c.2472C>T (p.Gly824=)
 dbSNP gnomAD v2
1g.11788357A>CCA416119080C1orf167,MTHFRc.3556A>C (p.Arg1186=)
c.4057A>C (p.Arg1353=)
c.*2323T>G (n.*2323T>G)
c.2192A>C
c.4417T>G (n.4417T>G)
c.4114A>C (p.Arg1372=)
c.1556A>C
c.1292A>C
n.351A>C
c.4192A>C (p.Arg1398=)
c.4138A>C (p.Arg1380=)
c.4098A>C (p.Ala1366=)
c.3784A>C (p.Arg1262=)
c.2473A>C (p.Arg825=)
1g.11788357A>GCA338470455C1orf167,MTHFRc.3556A>G (p.Arg1186Gly)
c.4057A>G (p.Arg1353Gly)
c.*2323T>C (n.*2323T>C)
c.2192A>G
c.4417T>C (n.4417T>C)
c.4114A>G (p.Arg1372Gly)
c.1556A>G
c.1292A>G
n.351A>G
c.4192A>G (p.Arg1398Gly)
c.4138A>G (p.Arg1380Gly)
c.4098A>G (p.Ala1366=)
c.3784A>G (p.Arg1262Gly)
c.2473A>G (p.Arg825Gly)
 gnomAD v4
1g.11788357A>TCA338470456C1orf167,MTHFRc.3556A>T (p.Arg1186Ter)
c.4057A>T (p.Arg1353Ter)
c.*2323T>A (n.*2323T>A)
c.2192A>T
c.4417T>A (n.4417T>A)
c.4114A>T (p.Arg1372Ter)
c.1556A>T
c.1292A>T
n.351A>T
c.4192A>T (p.Arg1398Ter)
c.4138A>T (p.Arg1380Ter)
c.4098A>T (p.Ala1366=)
c.3784A>T (p.Arg1262Ter)
c.2473A>T (p.Arg825Ter)
1g.11788358G>ACA338470457C1orf167,MTHFRc.3557G>A (p.Arg1186Lys)
c.4058G>A (p.Arg1353Lys)
c.*2322C>T (n.*2322C>T)
c.2193G>A
c.4416C>T (n.4416C>T)
c.4115G>A (p.Arg1372Lys)
c.1557G>A
c.1293G>A
n.352G>A
c.4193G>A (p.Arg1398Lys)
c.4139G>A (p.Arg1380Lys)
c.4099G>A (p.Glu1367Lys)
c.3785G>A (p.Arg1262Lys)
c.2474G>A (p.Arg825Lys)
 dbSNP
1g.11788358G>CCA338470459C1orf167,MTHFRc.3557G>C (p.Arg1186Thr)
c.4058G>C (p.Arg1353Thr)
c.*2322C>G (n.*2322C>G)
c.2193G>C
c.4416C>G (n.4416C>G)
c.4115G>C (p.Arg1372Thr)
c.1557G>C
c.1293G>C
n.352G>C
c.4193G>C (p.Arg1398Thr)
c.4139G>C (p.Arg1380Thr)
c.4099G>C (p.Glu1367Gln)
c.3785G>C (p.Arg1262Thr)
c.2474G>C (p.Arg825Thr)
 dbSNP gnomAD v4
1g.11788358G=CA1153787333C1orf167,MTHFRc.3557G= (p.Arg1186=)
c.4058G= (p.Arg1353=)
c.*2322C= (n.*2322C=)
c.2193G=
c.4416C= (n.4416C=)
c.4115G= (p.Arg1372=)
c.1557G=
c.1293G=
n.352G=
c.4193G= (p.Arg1398=)
c.4139G= (p.Arg1380=)
c.4099G= (p.Glu1367=)
c.3785G= (p.Arg1262=)
c.2474G= (p.Arg825=)
1g.11788358G>TCA338470458C1orf167,MTHFRc.3557G>T (p.Arg1186Ile)
c.4058G>T (p.Arg1353Ile)
c.*2322C>A (n.*2322C>A)
c.2193G>T
c.4416C>A (n.4416C>A)
c.4115G>T (p.Arg1372Ile)
c.1557G>T
c.1293G>T
n.352G>T
c.4193G>T (p.Arg1398Ile)
c.4139G>T (p.Arg1380Ile)
c.4099G>T (p.Glu1367Ter)
c.3785G>T (p.Arg1262Ile)
c.2474G>T (p.Arg825Ile)
1g.11788359A=CA1153787335C1orf167,MTHFRc.3558A= (p.Arg1186=)
c.4059A= (p.Arg1353=)
c.*2321T= (n.*2321T=)
c.2194A=
c.4415T= (n.4415T=)
c.4116A= (p.Arg1372=)
c.1558A=
c.1294A=
n.353A=
c.4194A= (p.Arg1398=)
c.4140A= (p.Arg1380=)
c.4100A= (p.Glu1367=)
c.3786A= (p.Arg1262=)
c.2475A= (p.Arg825=)
1g.11788359A>CCA338470460C1orf167,MTHFRc.3558A>C (p.Arg1186Ser)
c.4059A>C (p.Arg1353Ser)
c.*2321T>G (n.*2321T>G)
c.2194A>C
c.4415T>G (n.4415T>G)
c.4116A>C (p.Arg1372Ser)
c.1558A>C
c.1294A>C
n.353A>C
c.4194A>C (p.Arg1398Ser)
c.4140A>C (p.Arg1380Ser)
c.4100A>C (p.Glu1367Ala)
c.3786A>C (p.Arg1262Ser)
c.2475A>C (p.Arg825Ser)
1g.11788359A>GCA416119084C1orf167,MTHFRc.3558A>G (p.Arg1186=)
c.4059A>G (p.Arg1353=)
c.*2321T>C (n.*2321T>C)
c.2194A>G
c.4415T>C (n.4415T>C)
c.4116A>G (p.Arg1372=)
c.1558A>G
c.1294A>G
n.353A>G
c.4194A>G (p.Arg1398=)
c.4140A>G (p.Arg1380=)
c.4100A>G (p.Glu1367Gly)
c.3786A>G (p.Arg1262=)
c.2475A>G (p.Arg825=)
 dbSNP gnomAD v3 gnomAD v4
1g.11788359A>TCA338470461C1orf167,MTHFRc.3558A>T (p.Arg1186Ser)
c.4059A>T (p.Arg1353Ser)
c.*2321T>A (n.*2321T>A)
c.2194A>T
c.4415T>A (n.4415T>A)
c.4116A>T (p.Arg1372Ser)
c.1558A>T
c.1294A>T
n.353A>T
c.4194A>T (p.Arg1398Ser)
c.4140A>T (p.Arg1380Ser)
c.4100A>T (p.Glu1367Val)
c.3786A>T (p.Arg1262Ser)
c.2475A>T (p.Arg825Ser)
1g.11788360G>ACA338470462C1orf167,MTHFRc.3559G>A (p.Ala1187Thr)
c.4060G>A (p.Ala1354Thr)
c.*2320C>T (n.*2320C>T)
c.2195G>A
c.4414C>T (n.4414C>T)
c.4117G>A (p.Ala1373Thr)
c.1559G>A
c.1295G>A
n.354G>A
c.4195G>A (p.Ala1399Thr)
c.4141G>A (p.Ala1381Thr)
c.4101G>A (p.Glu1367=)
c.3787G>A (p.Ala1263Thr)
c.2476G>A (p.Ala826Thr)
 gnomAD v4
1g.11788360G>CCA338470463C1orf167,MTHFRc.3559G>C (p.Ala1187Pro)
c.4060G>C (p.Ala1354Pro)
c.*2320C>G (n.*2320C>G)
c.2195G>C
c.4414C>G (n.4414C>G)
c.4117G>C (p.Ala1373Pro)
c.1559G>C
c.1295G>C
n.354G>C
c.4195G>C (p.Ala1399Pro)
c.4141G>C (p.Ala1381Pro)
c.4101G>C (p.Glu1367Asp)
c.3787G>C (p.Ala1263Pro)
c.2476G>C (p.Ala826Pro)
1g.11788360G>TCA338470464C1orf167,MTHFRc.3559G>T (p.Ala1187Ser)
c.4060G>T (p.Ala1354Ser)
c.*2320C>A (n.*2320C>A)
c.2195G>T
c.4414C>A (n.4414C>A)
c.4117G>T (p.Ala1373Ser)
c.1559G>T
c.1295G>T
n.354G>T
c.4195G>T (p.Ala1399Ser)
c.4141G>T (p.Ala1381Ser)
c.4101G>T (p.Glu1367Asp)
c.3787G>T (p.Ala1263Ser)
c.2476G>T (p.Ala826Ser)
1g.11788361C>ACA338470465C1orf167,MTHFRc.3560C>A (p.Ala1187Glu)
c.4061C>A (p.Ala1354Glu)
c.*2319G>T (n.*2319G>T)
c.2196C>A
c.4413G>T (n.4413G>T)
c.4118C>A (p.Ala1373Glu)
c.1560C>A
c.1296C>A
n.355C>A
c.4196C>A (p.Ala1399Glu)
c.4142C>A (p.Ala1381Glu)
c.4102C>A (p.Gln1368Lys)
c.3788C>A (p.Ala1263Glu)
c.2477C>A (p.Ala826Glu)
 gnomAD v4
1g.11788361C=CA1153787338C1orf167,MTHFRc.3560C= (p.Ala1187=)
c.4061C= (p.Ala1354=)
c.*2319G= (n.*2319G=)
c.2196C=
c.4413G= (n.4413G=)
c.4118C= (p.Ala1373=)
c.1560C=
c.1296C=
n.355C=
c.4196C= (p.Ala1399=)
c.4142C= (p.Ala1381=)
c.4102C= (p.Gln1368=)
c.3788C= (p.Ala1263=)
c.2477C= (p.Ala826=)
1g.11788361C>GCA338470466C1orf167,MTHFRc.3560C>G (p.Ala1187Gly)
c.4061C>G (p.Ala1354Gly)
c.*2319G>C (n.*2319G>C)
c.2196C>G
c.4413G>C (n.4413G>C)
c.4118C>G (p.Ala1373Gly)
c.1560C>G
c.1296C>G
n.355C>G
c.4196C>G (p.Ala1399Gly)
c.4142C>G (p.Ala1381Gly)
c.4102C>G (p.Gln1368Glu)
c.3788C>G (p.Ala1263Gly)
c.2477C>G (p.Ala826Gly)
1g.11788361C>TCA338470467C1orf167,MTHFRc.3560C>T (p.Ala1187Val)
c.4061C>T (p.Ala1354Val)
c.*2319G>A (n.*2319G>A)
c.2196C>T
c.4413G>A (n.4413G>A)
c.4118C>T (p.Ala1373Val)
c.1560C>T
c.1296C>T
n.355C>T
c.4196C>T (p.Ala1399Val)
c.4142C>T (p.Ala1381Val)
c.4102C>T (p.Gln1368Ter)
c.3788C>T (p.Ala1263Val)
c.2477C>T (p.Ala826Val)
 dbSNP gnomAD v3 gnomAD v4
1g.11788362A>CCA416119086C1orf167,MTHFRc.3561A>C (p.Ala1187=)
c.4062A>C (p.Ala1354=)
c.*2318T>G (n.*2318T>G)
c.2197A>C
c.4412T>G (n.4412T>G)
c.4119A>C (p.Ala1373=)
c.1561A>C
c.1297A>C
n.356A>C
c.4197A>C (p.Ala1399=)
c.4143A>C (p.Ala1381=)
c.4103A>C (p.Gln1368Pro)
c.3789A>C (p.Ala1263=)
c.2478A>C (p.Ala826=)
1g.11788362A>GCA416119087C1orf167,MTHFRc.3561A>G (p.Ala1187=)
c.4062A>G (p.Ala1354=)
c.*2318T>C (n.*2318T>C)
c.2197A>G
c.4412T>C (n.4412T>C)
c.4119A>G (p.Ala1373=)
c.1561A>G
c.1297A>G
n.356A>G
c.4197A>G (p.Ala1399=)
c.4143A>G (p.Ala1381=)
c.4103A>G (p.Gln1368Arg)
c.3789A>G (p.Ala1263=)
c.2478A>G (p.Ala826=)
1g.11788362A>TCA416119088C1orf167,MTHFRc.3561A>T (p.Ala1187=)
c.4062A>T (p.Ala1354=)
c.*2318T>A (n.*2318T>A)
c.2197A>T
c.4412T>A (n.4412T>A)
c.4119A>T (p.Ala1373=)
c.1561A>T
c.1297A>T
n.356A>T
c.4197A>T (p.Ala1399=)
c.4143A>T (p.Ala1381=)
c.4103A>T (p.Gln1368Leu)
c.3789A>T (p.Ala1263=)
c.2478A>T (p.Ala826=)
1g.11788363G>ACA338470468C1orf167,MTHFRc.3562G>A (p.Ala1188Thr)
c.4063G>A (p.Ala1355Thr)
c.*2317C>T (n.*2317C>T)
c.2198G>A
c.4411C>T (n.4411C>T)
c.4120G>A (p.Ala1374Thr)
c.1562G>A
c.1298G>A
n.357G>A
c.4198G>A (p.Ala1400Thr)
c.4144G>A (p.Ala1382Thr)
c.4104G>A (p.Gln1368=)
c.3790G>A (p.Ala1264Thr)
c.2479G>A (p.Ala827Thr)
1g.11788363G>CCA338470469C1orf167,MTHFRc.3562G>C (p.Ala1188Pro)
c.4063G>C (p.Ala1355Pro)
c.*2317C>G (n.*2317C>G)
c.2198G>C
c.4411C>G (n.4411C>G)
c.4120G>C (p.Ala1374Pro)
c.1562G>C
c.1298G>C
n.357G>C
c.4198G>C (p.Ala1400Pro)
c.4144G>C (p.Ala1382Pro)
c.4104G>C (p.Gln1368His)
c.3790G>C (p.Ala1264Pro)
c.2479G>C (p.Ala827Pro)
1g.11788363G>TCA338470470C1orf167,MTHFRc.3562G>T (p.Ala1188Ser)
c.4063G>T (p.Ala1355Ser)
c.*2317C>A (n.*2317C>A)
c.2198G>T
c.4411C>A (n.4411C>A)
c.4120G>T (p.Ala1374Ser)
c.1562G>T
c.1298G>T
n.357G>T
c.4198G>T (p.Ala1400Ser)
c.4144G>T (p.Ala1382Ser)
c.4104G>T (p.Gln1368His)
c.3790G>T (p.Ala1264Ser)
c.2479G>T (p.Ala827Ser)
1g.11788364C>ACA338470471C1orf167,MTHFRc.3563C>A (p.Ala1188Asp)
c.4064C>A (p.Ala1355Asp)
c.*2316G>T (n.*2316G>T)
c.2199C>A
c.4410G>T (n.4410G>T)
c.4121C>A (p.Ala1374Asp)
c.1563C>A
c.1299C>A
n.358C>A
c.4199C>A (p.Ala1400Asp)
c.4145C>A (p.Ala1382Asp)
c.4105C>A (p.Leu1369Met)
c.3791C>A (p.Ala1264Asp)
c.2480C>A (p.Ala827Asp)
 gnomAD v4
1g.11788364C=CA1153787340C1orf167,MTHFRc.3563C= (p.Ala1188=)
c.4064C= (p.Ala1355=)
c.*2316G= (n.*2316G=)
c.2199C=
c.4410G= (n.4410G=)
c.4121C= (p.Ala1374=)
c.1563C=
c.1299C=
n.358C=
c.4199C= (p.Ala1400=)
c.4145C= (p.Ala1382=)
c.4105C= (p.Leu1369=)
c.3791C= (p.Ala1264=)
c.2480C= (p.Ala827=)
1g.11788364C>GCA17997427C1orf167,MTHFRc.3563C>G (p.Ala1188Gly)
c.4064C>G (p.Ala1355Gly)
c.*2316G>C (n.*2316G>C)
c.2199C>G
c.4410G>C (n.4410G>C)
c.4121C>G (p.Ala1374Gly)
c.1563C>G
c.1299C>G
n.358C>G
c.4199C>G (p.Ala1400Gly)
c.4145C>G (p.Ala1382Gly)
c.4105C>G (p.Leu1369Val)
c.3791C>G (p.Ala1264Gly)
c.2480C>G (p.Ala827Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.11788364C>TCA338470472C1orf167,MTHFRc.3563C>T (p.Ala1188Val)
c.4064C>T (p.Ala1355Val)
c.*2316G>A (n.*2316G>A)
c.2199C>T
c.4410G>A (n.4410G>A)
c.4121C>T (p.Ala1374Val)
c.1563C>T
c.1299C>T
n.358C>T
c.4199C>T (p.Ala1400Val)
c.4145C>T (p.Ala1382Val)
c.4105C>T (p.Leu1369=)
c.3791C>T (p.Ala1264Val)
c.2480C>T (p.Ala827Val)
 gnomAD v4
1g.11788365T>ACA416119089C1orf167,MTHFRc.3564T>A (p.Ala1188=)
c.4065T>A (p.Ala1355=)
c.*2315A>T (n.*2315A>T)
c.2200T>A
c.4409A>T (n.4409A>T)
c.4122T>A (p.Ala1374=)
c.1564T>A
c.1300T>A
n.359T>A
c.4200T>A (p.Ala1400=)
c.4146T>A (p.Ala1382=)
c.4106T>A (p.Leu1369Gln)
c.3792T>A (p.Ala1264=)
c.2481T>A (p.Ala827=)
1g.11788365T>CCA416119090C1orf167,MTHFRc.3564T>C (p.Ala1188=)
c.4065T>C (p.Ala1355=)
c.*2315A>G (n.*2315A>G)
c.2200T>C
c.4409A>G (n.4409A>G)
c.4122T>C (p.Ala1374=)
c.1564T>C
c.1300T>C
n.359T>C
c.4200T>C (p.Ala1400=)
c.4146T>C (p.Ala1382=)
c.4106T>C (p.Leu1369Pro)
c.3792T>C (p.Ala1264=)
c.2481T>C (p.Ala827=)
1g.11788365T>GCA416119091C1orf167,MTHFRc.3564T>G (p.Ala1188=)
c.4065T>G (p.Ala1355=)
c.*2315A>C (n.*2315A>C)
c.2200T>G
c.4409A>C (n.4409A>C)
c.4122T>G (p.Ala1374=)
c.1564T>G
c.1300T>G
n.359T>G
c.4200T>G (p.Ala1400=)
c.4146T>G (p.Ala1382=)
c.4106T>G (p.Leu1369Arg)
c.3792T>G (p.Ala1264=)
c.2481T>G (p.Ala827=)
1g.11788366G>ACA338470473C1orf167,MTHFRc.3565G>A (p.Gly1189Ser)
c.4066G>A (p.Gly1356Ser)
c.*2314C>T (n.*2314C>T)
c.2201G>A
c.4408C>T (n.4408C>T)
c.4123G>A (p.Gly1375Ser)
c.1565G>A
c.1301G>A
n.360G>A
c.4201G>A (p.Gly1401Ser)
c.4147G>A (p.Gly1383Ser)
c.4107G>A (p.Leu1369=)
c.3793G>A (p.Gly1265Ser)
c.2482G>A (p.Gly828Ser)
 gnomAD v4
1g.11788366G>CCA338470475C1orf167,MTHFRc.3565G>C (p.Gly1189Arg)
c.4066G>C (p.Gly1356Arg)
c.*2314C>G (n.*2314C>G)
c.2201G>C
c.4408C>G (n.4408C>G)
c.4123G>C (p.Gly1375Arg)
c.1565G>C
c.1301G>C
n.360G>C
c.4201G>C (p.Gly1401Arg)
c.4147G>C (p.Gly1383Arg)
c.4107G>C (p.Leu1369=)
c.3793G>C (p.Gly1265Arg)
c.2482G>C (p.Gly828Arg)
1g.11788366G=CA1153787343C1orf167,MTHFRc.3565G= (p.Gly1189=)
c.4066G= (p.Gly1356=)
c.*2314C= (n.*2314C=)
c.2201G=
c.4408C= (n.4408C=)
c.4123G= (p.Gly1375=)
c.1565G=
c.1301G=
n.360G=
c.4201G= (p.Gly1401=)
c.4147G= (p.Gly1383=)
c.4107G= (p.Leu1369=)
c.3793G= (p.Gly1265=)
c.2482G= (p.Gly828=)
1g.11788366G>TCA338470474C1orf167,MTHFRc.3565G>T (p.Gly1189Cys)
c.4066G>T (p.Gly1356Cys)
c.*2314C>A (n.*2314C>A)
c.2201G>T
c.4408C>A (n.4408C>A)
c.4123G>T (p.Gly1375Cys)
c.1565G>T
c.1301G>T
n.360G>T
c.4201G>T (p.Gly1401Cys)
c.4147G>T (p.Gly1383Cys)
c.4107G>T (p.Leu1369=)
c.3793G>T (p.Gly1265Cys)
c.2482G>T (p.Gly828Cys)
 dbSNP gnomAD v4
1g.11788367G>ACA338470476C1orf167,MTHFRc.3566G>A (p.Gly1189Asp)
c.4067G>A (p.Gly1356Asp)
c.*2313C>T (n.*2313C>T)
c.2202G>A
c.4407C>T (n.4407C>T)
c.4124G>A (p.Gly1375Asp)
c.1566G>A
c.1302G>A
n.361G>A
c.4202G>A (p.Gly1401Asp)
c.4148G>A (p.Gly1383Asp)
c.4108G>A (p.Val1370Met)
c.3794G>A (p.Gly1265Asp)
c.2483G>A (p.Gly828Asp)
1g.11788367G>CCA17997431C1orf167,MTHFRc.3566G>C (p.Gly1189Ala)
c.4067G>C (p.Gly1356Ala)
c.*2313C>G (n.*2313C>G)
c.2202G>C
c.4407C>G (n.4407C>G)
c.4124G>C (p.Gly1375Ala)
c.1566G>C
c.1302G>C
n.361G>C
c.4202G>C (p.Gly1401Ala)
c.4148G>C (p.Gly1383Ala)
c.4108G>C (p.Val1370Leu)
c.3794G>C (p.Gly1265Ala)
c.2483G>C (p.Gly828Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788367G=CA1143583196C1orf167,MTHFRc.3566G= (p.Gly1189=)
c.4067G= (p.Gly1356=)
c.*2313C= (n.*2313C=)
c.2202G=
c.4407C= (n.4407C=)
c.4124G= (p.Gly1375=)
c.1566G=
c.1302G=
n.361G=
c.4202G= (p.Gly1401=)
c.4148G= (p.Gly1383=)
c.4108G= (p.Val1370=)
c.3794G= (p.Gly1265=)
c.2483G= (p.Gly828=)
1g.11788367G>TCA338470477C1orf167,MTHFRc.3566G>T (p.Gly1189Val)
c.4067G>T (p.Gly1356Val)
c.*2313C>A (n.*2313C>A)
c.2202G>T
c.4407C>A (n.4407C>A)
c.4124G>T (p.Gly1375Val)
c.1566G>T
c.1302G>T
n.361G>T
c.4202G>T (p.Gly1401Val)
c.4148G>T (p.Gly1383Val)
c.4108G>T (p.Val1370Leu)
c.3794G>T (p.Gly1265Val)
c.2483G>T (p.Gly828Val)
 dbSNP
1g.11788368T>ACA416119093C1orf167,MTHFRc.3567T>A (p.Gly1189=)
c.4068T>A (p.Gly1356=)
c.*2312A>T (n.*2312A>T)
c.2203T>A
c.4406A>T (n.4406A>T)
c.4125T>A (p.Gly1375=)
c.1567T>A
c.1303T>A
n.362T>A
c.4203T>A (p.Gly1401=)
c.4149T>A (p.Gly1383=)
c.4109T>A (p.Val1370Glu)
c.3795T>A (p.Gly1265=)
c.2484T>A (p.Gly828=)
1g.11788368T>CCA416119094C1orf167,MTHFRc.3567T>C (p.Gly1189=)
c.4068T>C (p.Gly1356=)
c.*2312A>G (n.*2312A>G)
c.2203T>C
c.4406A>G (n.4406A>G)
c.4125T>C (p.Gly1375=)
c.1567T>C
c.1303T>C
n.362T>C
c.4203T>C (p.Gly1401=)
c.4149T>C (p.Gly1383=)
c.4109T>C (p.Val1370Ala)
c.3795T>C (p.Gly1265=)
c.2484T>C (p.Gly828=)
1g.11788368T>GCA416119095C1orf167,MTHFRc.3567T>G (p.Gly1189=)
c.4068T>G (p.Gly1356=)
c.*2312A>C (n.*2312A>C)
c.2203T>G
c.4406A>C (n.4406A>C)
c.4125T>G (p.Gly1375=)
c.1567T>G
c.1303T>G
n.362T>G
c.4203T>G (p.Gly1401=)
c.4149T>G (p.Gly1383=)
c.4109T>G (p.Val1370Gly)
c.3795T>G (p.Gly1265=)
c.2484T>G (p.Gly828=)
 dbSNP
1g.11788368T=CA1153787345C1orf167,MTHFRc.3567T= (p.Gly1189=)
c.4068T= (p.Gly1356=)
c.*2312A= (n.*2312A=)
c.2203T=
c.4406A= (n.4406A=)
c.4125T= (p.Gly1375=)
c.1567T=
c.1303T=
n.362T=
c.4203T= (p.Gly1401=)
c.4149T= (p.Gly1383=)
c.4109T= (p.Val1370=)
c.3795T= (p.Gly1265=)
c.2484T= (p.Gly828=)
1g.11788369G>ACA338470478C1orf167,MTHFRc.3568G>A (p.Ala1190Thr)
c.4069G>A (p.Ala1357Thr)
c.*2311C>T (n.*2311C>T)
c.2204G>A
c.4405C>T (n.4405C>T)
c.4126G>A (p.Ala1376Thr)
c.1568G>A
c.1304G>A
n.363G>A
c.4204G>A (p.Ala1402Thr)
c.4150G>A (p.Ala1384Thr)
c.4110G>A (p.Val1370=)
c.3796G>A (p.Ala1266Thr)
c.2485G>A (p.Ala829Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.11788369G>CCA338470479C1orf167,MTHFRc.3568G>C (p.Ala1190Pro)
c.4069G>C (p.Ala1357Pro)
c.*2311C>G (n.*2311C>G)
c.2204G>C
c.4405C>G (n.4405C>G)
c.4126G>C (p.Ala1376Pro)
c.1568G>C
c.1304G>C
n.363G>C
c.4204G>C (p.Ala1402Pro)
c.4150G>C (p.Ala1384Pro)
c.4110G>C (p.Val1370=)
c.3796G>C (p.Ala1266Pro)
c.2485G>C (p.Ala829Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.11788369G=CA1153787349C1orf167,MTHFRc.3568G= (p.Ala1190=)
c.4069G= (p.Ala1357=)
c.*2311C= (n.*2311C=)
c.2204G=
c.4405C= (n.4405C=)
c.4126G= (p.Ala1376=)
c.1568G=
c.1304G=
n.363G=
c.4204G= (p.Ala1402=)
c.4150G= (p.Ala1384=)
c.4110G= (p.Val1370=)
c.3796G= (p.Ala1266=)
c.2485G= (p.Ala829=)
1g.11788369G>TCA338470480C1orf167,MTHFRc.3568G>T (p.Ala1190Ser)
c.4069G>T (p.Ala1357Ser)
c.*2311C>A (n.*2311C>A)
c.2204G>T
c.4405C>A (n.4405C>A)
c.4126G>T (p.Ala1376Ser)
c.1568G>T
c.1304G>T
n.363G>T
c.4204G>T (p.Ala1402Ser)
c.4150G>T (p.Ala1384Ser)
c.4110G>T (p.Val1370=)
c.3796G>T (p.Ala1266Ser)
c.2485G>T (p.Ala829Ser)
1g.11788370C>ACA338470481C1orf167,MTHFRc.3569C>A (p.Ala1190Glu)
c.4070C>A (p.Ala1357Glu)
c.*2310G>T (n.*2310G>T)
c.2205C>A
c.4404G>T (n.4404G>T)
c.4127C>A (p.Ala1376Glu)
c.1569C>A
c.1305C>A
n.364C>A
c.4205C>A (p.Ala1402Glu)
c.4151C>A (p.Ala1384Glu)
c.4111C>A (p.Arg1371=)
c.3797C>A (p.Ala1266Glu)
c.2486C>A (p.Ala829Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.11788370C=CA1153787354C1orf167,MTHFRc.3569C= (p.Ala1190=)
c.4070C= (p.Ala1357=)
c.*2310G= (n.*2310G=)
c.2205C=
c.4404G= (n.4404G=)
c.4127C= (p.Ala1376=)
c.1569C=
c.1305C=
n.364C=
c.4205C= (p.Ala1402=)
c.4151C= (p.Ala1384=)
c.4111C= (p.Arg1371=)
c.3797C= (p.Ala1266=)
c.2486C= (p.Ala829=)
1g.11788370C>GCA338470482C1orf167,MTHFRc.3569C>G (p.Ala1190Gly)
c.4070C>G (p.Ala1357Gly)
c.*2310G>C (n.*2310G>C)
c.2205C>G
c.4404G>C (n.4404G>C)
c.4127C>G (p.Ala1376Gly)
c.1569C>G
c.1305C>G
n.364C>G
c.4205C>G (p.Ala1402Gly)
c.4151C>G (p.Ala1384Gly)
c.4111C>G (p.Arg1371Gly)
c.3797C>G (p.Ala1266Gly)
c.2486C>G (p.Ala829Gly)
1g.11788370C>TCA17997433C1orf167,MTHFRc.3569C>T (p.Ala1190Val)
c.4070C>T (p.Ala1357Val)
c.*2310G>A (n.*2310G>A)
c.2205C>T
c.4404G>A (n.4404G>A)
c.4127C>T (p.Ala1376Val)
c.1569C>T
c.1305C>T
n.364C>T
c.4205C>T (p.Ala1402Val)
c.4151C>T (p.Ala1384Val)
c.4111C>T (p.Arg1371Trp)
c.3797C>T (p.Ala1266Val)
c.2486C>T (p.Ala829Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788371G>ACA17997463C1orf167,MTHFRc.3570G>A (p.Ala1190=)
c.4071G>A (p.Ala1357=)
c.*2309C>T (n.*2309C>T)
c.2206G>A
c.4403C>T (n.4403C>T)
c.4128G>A (p.Ala1376=)
c.1570G>A
c.1306G>A
n.365G>A
c.4206G>A (p.Ala1402=)
c.4152G>A (p.Ala1384=)
c.4112G>A (p.Arg1371Gln)
c.3798G>A (p.Ala1266=)
c.2487G>A (p.Ala829=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.11788371G>CCA416119098C1orf167,MTHFRc.3570G>C (p.Ala1190=)
c.4071G>C (p.Ala1357=)
c.*2309C>G (n.*2309C>G)
c.2206G>C
c.4403C>G (n.4403C>G)
c.4128G>C (p.Ala1376=)
c.1570G>C
c.1306G>C
n.365G>C
c.4206G>C (p.Ala1402=)
c.4152G>C (p.Ala1384=)
c.4112G>C (p.Arg1371Pro)
c.3798G>C (p.Ala1266=)
c.2487G>C (p.Ala829=)
1g.11788371G=CA1146410283C1orf167,MTHFRc.3570G= (p.Ala1190=)
c.4071G= (p.Ala1357=)
c.*2309C= (n.*2309C=)
c.2206G=
c.4403C= (n.4403C=)
c.4128G= (p.Ala1376=)
c.1570G=
c.1306G=
n.365G=
c.4206G= (p.Ala1402=)
c.4152G= (p.Ala1384=)
c.4112G= (p.Arg1371=)
c.3798G= (p.Ala1266=)
c.2487G= (p.Ala829=)
1g.11788371G>TCA416119097C1orf167,MTHFRc.3570G>T (p.Ala1190=)
c.4071G>T (p.Ala1357=)
c.*2309C>A (n.*2309C>A)
c.2206G>T
c.4403C>A (n.4403C>A)
c.4128G>T (p.Ala1376=)
c.1570G>T
c.1306G>T
n.365G>T
c.4206G>T (p.Ala1402=)
c.4152G>T (p.Ala1384=)
c.4112G>T (p.Arg1371Leu)
c.3798G>T (p.Ala1266=)
c.2487G>T (p.Ala829=)
 dbSNP gnomAD v4

Number of alleles fetched