Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.11787912G>ACA595055C1orf167,MTHFRc.3227G>A (p.Trp1076Ter)
c.3713G>A (p.Trp1238Ter)
c.*2768C>T (n.*2768C>T)
c.1863G>A
c.4862C>T (n.4862C>T)
c.3785G>A (p.Trp1262Ter)
c.1212G>A
c.1042G>A
n.644G>A
n.101G>A
c.3848G>A (p.Trp1283Ter)
c.3794G>A (p.Trp1265Ter)
c.3440G>A (p.Trp1147Ter)
c.2129G>A (p.Trp710Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11787912G>CCA338469650C1orf167,MTHFRc.3227G>C (p.Trp1076Ser)
c.3713G>C (p.Trp1238Ser)
c.*2768C>G (n.*2768C>G)
c.1863G>C
c.4862C>G (n.4862C>G)
c.3785G>C (p.Trp1262Ser)
c.1212G>C
c.1042G>C
n.644G>C
n.101G>C
c.3848G>C (p.Trp1283Ser)
c.3794G>C (p.Trp1265Ser)
c.3440G>C (p.Trp1147Ser)
c.2129G>C (p.Trp710Ser)
 gnomAD v4
1g.11787912G=CA1153786425C1orf167,MTHFRc.3227G= (p.Trp1076=)
c.3713G= (p.Trp1238=)
c.*2768C= (n.*2768C=)
c.1863G=
c.4862C= (n.4862C=)
c.3785G= (p.Trp1262=)
c.1212G=
c.1042G=
n.644G=
n.101G=
c.3848G= (p.Trp1283=)
c.3794G= (p.Trp1265=)
c.3440G= (p.Trp1147=)
c.2129G= (p.Trp710=)
1g.11787912G>TCA338469649C1orf167,MTHFRc.3227G>T (p.Trp1076Leu)
c.3713G>T (p.Trp1238Leu)
c.*2768C>A (n.*2768C>A)
c.1863G>T
c.4862C>A (n.4862C>A)
c.3785G>T (p.Trp1262Leu)
c.1212G>T
c.1042G>T
n.644G>T
n.101G>T
c.3848G>T (p.Trp1283Leu)
c.3794G>T (p.Trp1265Leu)
c.3440G>T (p.Trp1147Leu)
c.2129G>T (p.Trp710Leu)
 gnomAD v4
1g.11787913G>ACA338469654C1orf167,MTHFRc.3228G>A (p.Trp1076Ter)
c.3714G>A (p.Trp1238Ter)
c.*2767C>T (n.*2767C>T)
c.1864G>A
c.4861C>T (n.4861C>T)
c.3786G>A (p.Trp1262Ter)
c.1213G>A
c.1043G>A
n.645G>A
n.102G>A
c.3849G>A (p.Trp1283Ter)
c.3795G>A (p.Trp1265Ter)
c.3441G>A (p.Trp1147Ter)
c.2130G>A (p.Trp710Ter)
 gnomAD v4
1g.11787913G>CCA338469657C1orf167,MTHFRc.3228G>C (p.Trp1076Cys)
c.3714G>C (p.Trp1238Cys)
c.*2767C>G (n.*2767C>G)
c.1864G>C
c.4861C>G (n.4861C>G)
c.3786G>C (p.Trp1262Cys)
c.1213G>C
c.1043G>C
n.645G>C
n.102G>C
c.3849G>C (p.Trp1283Cys)
c.3795G>C (p.Trp1265Cys)
c.3441G>C (p.Trp1147Cys)
c.2130G>C (p.Trp710Cys)
 gnomAD v4
1g.11787913G>TCA338469655C1orf167,MTHFRc.3228G>T (p.Trp1076Cys)
c.3714G>T (p.Trp1238Cys)
c.*2767C>A (n.*2767C>A)
c.1864G>T
c.4861C>A (n.4861C>A)
c.3786G>T (p.Trp1262Cys)
c.1213G>T
c.1043G>T
n.645G>T
n.102G>T
c.3849G>T (p.Trp1283Cys)
c.3795G>T (p.Trp1265Cys)
c.3441G>T (p.Trp1147Cys)
c.2130G>T (p.Trp710Cys)
 gnomAD v4
1g.11787914C>ACA338469660C1orf167,MTHFRc.3229C>A (p.Pro1077Thr)
c.3715C>A (p.Pro1239Thr)
c.*2766G>T (n.*2766G>T)
c.1865C>A
c.4860G>T (n.4860G>T)
c.3787C>A (p.Pro1263Thr)
c.1214C>A
c.1044C>A
n.646C>A
n.103C>A
c.3850C>A (p.Pro1284Thr)
c.3796C>A (p.Pro1266Thr)
c.3442C>A (p.Pro1148Thr)
c.2131C>A (p.Pro711Thr)
 gnomAD v4
1g.11787914C>GCA338469664C1orf167,MTHFRc.3229C>G (p.Pro1077Ala)
c.3715C>G (p.Pro1239Ala)
c.*2766G>C (n.*2766G>C)
c.1865C>G
c.4860G>C (n.4860G>C)
c.3787C>G (p.Pro1263Ala)
c.1214C>G
c.1044C>G
n.646C>G
n.103C>G
c.3850C>G (p.Pro1284Ala)
c.3796C>G (p.Pro1266Ala)
c.3442C>G (p.Pro1148Ala)
c.2131C>G (p.Pro711Ala)
1g.11787914C>TCA338469662C1orf167,MTHFRc.3229C>T (p.Pro1077Ser)
c.3715C>T (p.Pro1239Ser)
c.*2766G>A (n.*2766G>A)
c.1865C>T
c.4860G>A (n.4860G>A)
c.3787C>T (p.Pro1263Ser)
c.1214C>T
c.1044C>T
n.646C>T
n.103C>T
c.3850C>T (p.Pro1284Ser)
c.3796C>T (p.Pro1266Ser)
c.3442C>T (p.Pro1148Ser)
c.2131C>T (p.Pro711Ser)
 gnomAD v4 COSMIC COSMIC
1g.11787915delCA2643295212C1orf167,MTHFRc.3230del (p.Pro1077HisfsTer?)
c.3716del (p.Pro1239HisfsTer?)
c.*2766del (n.*2766del)
c.1866del
c.4860del (n.4860del)
c.3788del (p.Pro1263HisfsTer?)
c.1215del
c.1045del
n.647del
n.104del
c.3851del (p.Pro1284HisfsTer?)
c.3797del (p.Pro1266HisfsTer?)
c.3443del (p.Pro1148HisfsTer?)
c.2132del (p.Pro711HisfsTer?)
 gnomAD v4
1g.11787915C>ACA338469667C1orf167,MTHFRc.3230C>A (p.Pro1077Gln)
c.3716C>A (p.Pro1239Gln)
c.*2765G>T (n.*2765G>T)
c.1866C>A
c.4859G>T (n.4859G>T)
c.3788C>A (p.Pro1263Gln)
c.1215C>A
c.1045C>A
n.647C>A
n.104C>A
c.3851C>A (p.Pro1284Gln)
c.3797C>A (p.Pro1266Gln)
c.3443C>A (p.Pro1148Gln)
c.2132C>A (p.Pro711Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.11787915C=CA1153786430C1orf167,MTHFRc.3230C= (p.Pro1077=)
c.3716C= (p.Pro1239=)
c.*2765G= (n.*2765G=)
c.1866C=
c.4859G= (n.4859G=)
c.3788C= (p.Pro1263=)
c.1215C=
c.1045C=
n.647C=
n.104C=
c.3851C= (p.Pro1284=)
c.3797C= (p.Pro1266=)
c.3443C= (p.Pro1148=)
c.2132C= (p.Pro711=)
1g.11787915C>GCA338469669C1orf167,MTHFRc.3230C>G (p.Pro1077Arg)
c.3716C>G (p.Pro1239Arg)
c.*2765G>C (n.*2765G>C)
c.1866C>G
c.4859G>C (n.4859G>C)
c.3788C>G (p.Pro1263Arg)
c.1215C>G
c.1045C>G
n.647C>G
n.104C>G
c.3851C>G (p.Pro1284Arg)
c.3797C>G (p.Pro1266Arg)
c.3443C>G (p.Pro1148Arg)
c.2132C>G (p.Pro711Arg)
1g.11787915C>TCA338469671C1orf167,MTHFRc.3230C>T (p.Pro1077Leu)
c.3716C>T (p.Pro1239Leu)
c.*2765G>A (n.*2765G>A)
c.1866C>T
c.4859G>A (n.4859G>A)
c.3788C>T (p.Pro1263Leu)
c.1215C>T
c.1045C>T
n.647C>T
n.104C>T
c.3851C>T (p.Pro1284Leu)
c.3797C>T (p.Pro1266Leu)
c.3443C>T (p.Pro1148Leu)
c.2132C>T (p.Pro711Leu)
1g.11787916A>CCA416361871C1orf167,MTHFRc.3231A>C (p.Pro1077=)
c.3717A>C (p.Pro1239=)
c.*2764T>G (n.*2764T>G)
c.1867A>C
c.4858T>G (n.4858T>G)
c.3789A>C (p.Pro1263=)
c.1216A>C
c.1046A>C
n.648A>C
n.105A>C
c.3852A>C (p.Pro1284=)
c.3798A>C (p.Pro1266=)
c.3444A>C (p.Pro1148=)
c.2133A>C (p.Pro711=)
1g.11787916A>GCA416361872C1orf167,MTHFRc.3231A>G (p.Pro1077=)
c.3717A>G (p.Pro1239=)
c.*2764T>C (n.*2764T>C)
c.1867A>G
c.4858T>C (n.4858T>C)
c.3789A>G (p.Pro1263=)
c.1216A>G
c.1046A>G
n.648A>G
n.105A>G
c.3852A>G (p.Pro1284=)
c.3798A>G (p.Pro1266=)
c.3444A>G (p.Pro1148=)
c.2133A>G (p.Pro711=)
1g.11787916A>TCA416361874C1orf167,MTHFRc.3231A>T (p.Pro1077=)
c.3717A>T (p.Pro1239=)
c.*2764T>A (n.*2764T>A)
c.1867A>T
c.4858T>A (n.4858T>A)
c.3789A>T (p.Pro1263=)
c.1216A>T
c.1046A>T
n.648A>T
n.105A>T
c.3852A>T (p.Pro1284=)
c.3798A>T (p.Pro1266=)
c.3444A>T (p.Pro1148=)
c.2133A>T (p.Pro711=)
1g.11787917C>ACA338469674C1orf167,MTHFRc.3232C>A (p.Gln1078Lys)
c.3718C>A (p.Gln1240Lys)
c.*2763G>T (n.*2763G>T)
c.1868C>A
c.4857G>T (n.4857G>T)
c.3790C>A (p.Gln1264Lys)
c.1217C>A
c.1047C>A
n.649C>A
n.106C>A
c.3853C>A (p.Gln1285Lys)
c.3799C>A (p.Gln1267Lys)
c.3445C>A (p.Gln1149Lys)
c.2134C>A (p.Gln712Lys)
 gnomAD v4
1g.11787917C>GCA338469676C1orf167,MTHFRc.3232C>G (p.Gln1078Glu)
c.3718C>G (p.Gln1240Glu)
c.*2763G>C (n.*2763G>C)
c.1868C>G
c.4857G>C (n.4857G>C)
c.3790C>G (p.Gln1264Glu)
c.1217C>G
c.1047C>G
n.649C>G
n.106C>G
c.3853C>G (p.Gln1285Glu)
c.3799C>G (p.Gln1267Glu)
c.3445C>G (p.Gln1149Glu)
c.2134C>G (p.Gln712Glu)
1g.11787917C>TCA338469678C1orf167,MTHFRc.3232C>T (p.Gln1078Ter)
c.3718C>T (p.Gln1240Ter)
c.*2763G>A (n.*2763G>A)
c.1868C>T
c.4857G>A (n.4857G>A)
c.3790C>T (p.Gln1264Ter)
c.1217C>T
c.1047C>T
n.649C>T
n.106C>T
c.3853C>T (p.Gln1285Ter)
c.3799C>T (p.Gln1267Ter)
c.3445C>T (p.Gln1149Ter)
c.2134C>T (p.Gln712Ter)
 gnomAD v4
1g.11787918A>CCA338469681C1orf167,MTHFRc.3233A>C (p.Gln1078Pro)
c.3719A>C (p.Gln1240Pro)
c.*2762T>G (n.*2762T>G)
c.1869A>C
c.4856T>G (n.4856T>G)
c.3791A>C (p.Gln1264Pro)
c.1218A>C
c.1048A>C
n.650A>C
n.107A>C
c.3854A>C (p.Gln1285Pro)
c.3800A>C (p.Gln1267Pro)
c.3446A>C (p.Gln1149Pro)
c.2135A>C (p.Gln712Pro)
1g.11787918A>GCA338469683C1orf167,MTHFRc.3233A>G (p.Gln1078Arg)
c.3719A>G (p.Gln1240Arg)
c.*2762T>C (n.*2762T>C)
c.1869A>G
c.4856T>C (n.4856T>C)
c.3791A>G (p.Gln1264Arg)
c.1218A>G
c.1048A>G
n.650A>G
n.107A>G
c.3854A>G (p.Gln1285Arg)
c.3800A>G (p.Gln1267Arg)
c.3446A>G (p.Gln1149Arg)
c.2135A>G (p.Gln712Arg)
1g.11787918A>TCA338469685C1orf167,MTHFRc.3233A>T (p.Gln1078Leu)
c.3719A>T (p.Gln1240Leu)
c.*2762T>A (n.*2762T>A)
c.1869A>T
c.4856T>A (n.4856T>A)
c.3791A>T (p.Gln1264Leu)
c.1218A>T
c.1048A>T
n.650A>T
n.107A>T
c.3854A>T (p.Gln1285Leu)
c.3800A>T (p.Gln1267Leu)
c.3446A>T (p.Gln1149Leu)
c.2135A>T (p.Gln712Leu)
1g.11787919G>ACA416361876C1orf167,MTHFRc.3234G>A (p.Gln1078=)
c.3720G>A (p.Gln1240=)
c.*2761C>T (n.*2761C>T)
c.1870G>A
c.4855C>T (n.4855C>T)
c.3792G>A (p.Gln1264=)
c.1219G>A
c.1049G>A
n.651G>A
n.108G>A
c.3855G>A (p.Gln1285=)
c.3801G>A (p.Gln1267=)
c.3447G>A (p.Gln1149=)
c.2136G>A (p.Gln712=)
 dbSNP gnomAD v2 gnomAD v4
1g.11787919G>CCA338469686C1orf167,MTHFRc.3234G>C (p.Gln1078His)
c.3720G>C (p.Gln1240His)
c.*2761C>G (n.*2761C>G)
c.1870G>C
c.4855C>G (n.4855C>G)
c.3792G>C (p.Gln1264His)
c.1219G>C
c.1049G>C
n.651G>C
n.108G>C
c.3855G>C (p.Gln1285His)
c.3801G>C (p.Gln1267His)
c.3447G>C (p.Gln1149His)
c.2136G>C (p.Gln712His)
1g.11787919G=CA1153786441C1orf167,MTHFRc.3234G= (p.Gln1078=)
c.3720G= (p.Gln1240=)
c.*2761C= (n.*2761C=)
c.1870G=
c.4855C= (n.4855C=)
c.3792G= (p.Gln1264=)
c.1219G=
c.1049G=
n.651G=
n.108G=
c.3855G= (p.Gln1285=)
c.3801G= (p.Gln1267=)
c.3447G= (p.Gln1149=)
c.2136G= (p.Gln712=)
1g.11787919G>TCA338469687C1orf167,MTHFRc.3234G>T (p.Gln1078His)
c.3720G>T (p.Gln1240His)
c.*2761C>A (n.*2761C>A)
c.1870G>T
c.4855C>A (n.4855C>A)
c.3792G>T (p.Gln1264His)
c.1219G>T
c.1049G>T
n.651G>T
n.108G>T
c.3855G>T (p.Gln1285His)
c.3801G>T (p.Gln1267His)
c.3447G>T (p.Gln1149His)
c.2136G>T (p.Gln712His)
1g.11787920T>ACA338469693C1orf167,MTHFRc.3235T>A (p.Trp1079Arg)
c.3721T>A (p.Trp1241Arg)
c.*2760A>T (n.*2760A>T)
c.1871T>A
c.4854A>T (n.4854A>T)
c.3793T>A (p.Trp1265Arg)
c.1220T>A
c.1050T>A
n.652T>A
n.109T>A
c.3856T>A (p.Trp1286Arg)
c.3802T>A (p.Trp1268Arg)
c.3448T>A (p.Trp1150Arg)
c.2137T>A (p.Trp713Arg)
 gnomAD v4
1g.11787920T>CCA338469691C1orf167,MTHFRc.3235T>C (p.Trp1079Arg)
c.3721T>C (p.Trp1241Arg)
c.*2760A>G (n.*2760A>G)
c.1871T>C
c.4854A>G (n.4854A>G)
c.3793T>C (p.Trp1265Arg)
c.1220T>C
c.1050T>C
n.652T>C
n.109T>C
c.3856T>C (p.Trp1286Arg)
c.3802T>C (p.Trp1268Arg)
c.3448T>C (p.Trp1150Arg)
c.2137T>C (p.Trp713Arg)
 gnomAD v4
1g.11787920T>GCA338469689C1orf167,MTHFRc.3235T>G (p.Trp1079Gly)
c.3721T>G (p.Trp1241Gly)
c.*2760A>C (n.*2760A>C)
c.1871T>G
c.4854A>C (n.4854A>C)
c.3793T>G (p.Trp1265Gly)
c.1220T>G
c.1050T>G
n.652T>G
n.109T>G
c.3856T>G (p.Trp1286Gly)
c.3802T>G (p.Trp1268Gly)
c.3448T>G (p.Trp1150Gly)
c.2137T>G (p.Trp713Gly)
1g.11787921G>ACA338469695C1orf167,MTHFRc.3236G>A (p.Trp1079Ter)
c.3722G>A (p.Trp1241Ter)
c.*2759C>T (n.*2759C>T)
c.1872G>A
c.4853C>T (n.4853C>T)
c.3794G>A (p.Trp1265Ter)
c.1221G>A
c.1051G>A
n.653G>A
n.110G>A
c.3857G>A (p.Trp1286Ter)
c.3803G>A (p.Trp1268Ter)
c.3449G>A (p.Trp1150Ter)
c.2138G>A (p.Trp713Ter)
1g.11787921G>CCA338469697C1orf167,MTHFRc.3236G>C (p.Trp1079Ser)
c.3722G>C (p.Trp1241Ser)
c.*2759C>G (n.*2759C>G)
c.1872G>C
c.4853C>G (n.4853C>G)
c.3794G>C (p.Trp1265Ser)
c.1221G>C
c.1051G>C
n.653G>C
n.110G>C
c.3857G>C (p.Trp1286Ser)
c.3803G>C (p.Trp1268Ser)
c.3449G>C (p.Trp1150Ser)
c.2138G>C (p.Trp713Ser)
 gnomAD v4
1g.11787921G>TCA338469700C1orf167,MTHFRc.3236G>T (p.Trp1079Leu)
c.3722G>T (p.Trp1241Leu)
c.*2759C>A (n.*2759C>A)
c.1872G>T
c.4853C>A (n.4853C>A)
c.3794G>T (p.Trp1265Leu)
c.1221G>T
c.1051G>T
n.653G>T
n.110G>T
c.3857G>T (p.Trp1286Leu)
c.3803G>T (p.Trp1268Leu)
c.3449G>T (p.Trp1150Leu)
c.2138G>T (p.Trp713Leu)
1g.11787922G>ACA338469703C1orf167,MTHFRc.3237G>A (p.Trp1079Ter)
c.3723G>A (p.Trp1241Ter)
c.*2758C>T (n.*2758C>T)
c.1873G>A
c.4852C>T (n.4852C>T)
c.3795G>A (p.Trp1265Ter)
c.1222G>A
c.1052G>A
n.654G>A
n.111G>A
c.3858G>A (p.Trp1286Ter)
c.3804G>A (p.Trp1268Ter)
c.3450G>A (p.Trp1150Ter)
c.2139G>A (p.Trp713Ter)
1g.11787922G>CCA338469705C1orf167,MTHFRc.3237G>C (p.Trp1079Cys)
c.3723G>C (p.Trp1241Cys)
c.*2758C>G (n.*2758C>G)
c.1873G>C
c.4852C>G (n.4852C>G)
c.3795G>C (p.Trp1265Cys)
c.1222G>C
c.1052G>C
n.654G>C
n.111G>C
c.3858G>C (p.Trp1286Cys)
c.3804G>C (p.Trp1268Cys)
c.3450G>C (p.Trp1150Cys)
c.2139G>C (p.Trp713Cys)
1g.11787922G>TCA338469707C1orf167,MTHFRc.3237G>T (p.Trp1079Cys)
c.3723G>T (p.Trp1241Cys)
c.*2758C>A (n.*2758C>A)
c.1873G>T
c.4852C>A (n.4852C>A)
c.3795G>T (p.Trp1265Cys)
c.1222G>T
c.1052G>T
n.654G>T
n.111G>T
c.3858G>T (p.Trp1286Cys)
c.3804G>T (p.Trp1268Cys)
c.3450G>T (p.Trp1150Cys)
c.2139G>T (p.Trp713Cys)
 gnomAD v4
1g.11787923C>ACA338469710C1orf167,MTHFRc.3238C>A (p.Pro1080Thr)
c.3724C>A (p.Pro1242Thr)
c.*2757G>T (n.*2757G>T)
c.1874C>A
c.4851G>T (n.4851G>T)
c.3796C>A (p.Pro1266Thr)
c.1223C>A
c.1053C>A
n.655C>A
n.112C>A
c.3859C>A (p.Pro1287Thr)
c.3805C>A (p.Pro1269Thr)
c.3451C>A (p.Pro1151Thr)
c.2140C>A (p.Pro714Thr)
 gnomAD v4
1g.11787923C=CA1153786446C1orf167,MTHFRc.3238C= (p.Pro1080=)
c.3724C= (p.Pro1242=)
c.*2757G= (n.*2757G=)
c.1874C=
c.4851G= (n.4851G=)
c.3796C= (p.Pro1266=)
c.1223C=
c.1053C=
n.655C=
n.112C=
c.3859C= (p.Pro1287=)
c.3805C= (p.Pro1269=)
c.3451C= (p.Pro1151=)
c.2140C= (p.Pro714=)
1g.11787923C>GCA338469712C1orf167,MTHFRc.3238C>G (p.Pro1080Ala)
c.3724C>G (p.Pro1242Ala)
c.*2757G>C (n.*2757G>C)
c.1874C>G
c.4851G>C (n.4851G>C)
c.3796C>G (p.Pro1266Ala)
c.1223C>G
c.1053C>G
n.655C>G
n.112C>G
c.3859C>G (p.Pro1287Ala)
c.3805C>G (p.Pro1269Ala)
c.3451C>G (p.Pro1151Ala)
c.2140C>G (p.Pro714Ala)
 gnomAD v4
1g.11787923C>TCA338469714C1orf167,MTHFRc.3238C>T (p.Pro1080Ser)
c.3724C>T (p.Pro1242Ser)
c.*2757G>A (n.*2757G>A)
c.1874C>T
c.4851G>A (n.4851G>A)
c.3796C>T (p.Pro1266Ser)
c.1223C>T
c.1053C>T
n.655C>T
n.112C>T
c.3859C>T (p.Pro1287Ser)
c.3805C>T (p.Pro1269Ser)
c.3451C>T (p.Pro1151Ser)
c.2140C>T (p.Pro714Ser)
 dbSNP gnomAD v2
1g.11787924C>ACA338469715C1orf167,MTHFRc.3239C>A (p.Pro1080His)
c.3725C>A (p.Pro1242His)
c.*2756G>T (n.*2756G>T)
c.1875C>A
c.4850G>T (n.4850G>T)
c.3797C>A (p.Pro1266His)
c.1224C>A
c.1054C>A
n.656C>A
n.113C>A
c.3860C>A (p.Pro1287His)
c.3806C>A (p.Pro1269His)
c.3452C>A (p.Pro1151His)
c.2141C>A (p.Pro714His)
1g.11787924C>GCA338469717C1orf167,MTHFRc.3239C>G (p.Pro1080Arg)
c.3725C>G (p.Pro1242Arg)
c.*2756G>C (n.*2756G>C)
c.1875C>G
c.4850G>C (n.4850G>C)
c.3797C>G (p.Pro1266Arg)
c.1224C>G
c.1054C>G
n.656C>G
n.113C>G
c.3860C>G (p.Pro1287Arg)
c.3806C>G (p.Pro1269Arg)
c.3452C>G (p.Pro1151Arg)
c.2141C>G (p.Pro714Arg)
1g.11787924C>TCA338469719C1orf167,MTHFRc.3239C>T (p.Pro1080Leu)
c.3725C>T (p.Pro1242Leu)
c.*2756G>A (n.*2756G>A)
c.1875C>T
c.4850G>A (n.4850G>A)
c.3797C>T (p.Pro1266Leu)
c.1224C>T
c.1054C>T
n.656C>T
n.113C>T
c.3860C>T (p.Pro1287Leu)
c.3806C>T (p.Pro1269Leu)
c.3452C>T (p.Pro1151Leu)
c.2141C>T (p.Pro714Leu)
1g.11787925T>ACA416361885C1orf167,MTHFRc.3240T>A (p.Pro1080=)
c.3726T>A (p.Pro1242=)
c.*2755A>T (n.*2755A>T)
c.1876T>A
c.4849A>T (n.4849A>T)
c.3798T>A (p.Pro1266=)
c.1225T>A
c.1055T>A
n.657T>A
n.114T>A
c.3861T>A (p.Pro1287=)
c.3807T>A (p.Pro1269=)
c.3453T>A (p.Pro1151=)
c.2142T>A (p.Pro714=)
1g.11787925T>CCA17995927C1orf167,MTHFRc.3240T>C (p.Pro1080=)
c.3726T>C (p.Pro1242=)
c.*2755A>G (n.*2755A>G)
c.1876T>C
c.4849A>G (n.4849A>G)
c.3798T>C (p.Pro1266=)
c.1225T>C
c.1055T>C
n.657T>C
n.114T>C
c.3861T>C (p.Pro1287=)
c.3807T>C (p.Pro1269=)
c.3453T>C (p.Pro1151=)
c.2142T>C (p.Pro714=)
 dbSNP gnomAD v4
1g.11787925T>GCA416361887C1orf167,MTHFRc.3240T>G (p.Pro1080=)
c.3726T>G (p.Pro1242=)
c.*2755A>C (n.*2755A>C)
c.1876T>G
c.4849A>C (n.4849A>C)
c.3798T>G (p.Pro1266=)
c.1225T>G
c.1055T>G
n.657T>G
n.114T>G
c.3861T>G (p.Pro1287=)
c.3807T>G (p.Pro1269=)
c.3453T>G (p.Pro1151=)
c.2142T>G (p.Pro714=)
1g.11787925T=CA1153786448C1orf167,MTHFRc.3240T= (p.Pro1080=)
c.3726T= (p.Pro1242=)
c.*2755A= (n.*2755A=)
c.1876T=
c.4849A= (n.4849A=)
c.3798T= (p.Pro1266=)
c.1225T=
c.1055T=
n.657T=
n.114T=
c.3861T= (p.Pro1287=)
c.3807T= (p.Pro1269=)
c.3453T= (p.Pro1151=)
c.2142T= (p.Pro714=)
1g.11787926G>ACA338469728C1orf167,MTHFRc.3241G>A (p.Gly1081Arg)
c.3727G>A (p.Gly1243Arg)
c.*2754C>T (n.*2754C>T)
c.1877G>A
c.4848C>T (n.4848C>T)
c.3799G>A (p.Gly1267Arg)
c.1226G>A
c.1056G>A
n.658G>A
n.115G>A
c.3862G>A (p.Gly1288Arg)
c.3808G>A (p.Gly1270Arg)
c.3454G>A (p.Gly1152Arg)
c.2143G>A (p.Gly715Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11787926G>CCA338469723C1orf167,MTHFRc.3241G>C (p.Gly1081Arg)
c.3727G>C (p.Gly1243Arg)
c.*2754C>G (n.*2754C>G)
c.1877G>C
c.4848C>G (n.4848C>G)
c.3799G>C (p.Gly1267Arg)
c.1226G>C
c.1056G>C
n.658G>C
n.115G>C
c.3862G>C (p.Gly1288Arg)
c.3808G>C (p.Gly1270Arg)
c.3454G>C (p.Gly1152Arg)
c.2143G>C (p.Gly715Arg)
1g.11787926G=CA1153786449C1orf167,MTHFRc.3241G= (p.Gly1081=)
c.3727G= (p.Gly1243=)
c.*2754C= (n.*2754C=)
c.1877G=
c.4848C= (n.4848C=)
c.3799G= (p.Gly1267=)
c.1226G=
c.1056G=
n.658G=
n.115G=
c.3862G= (p.Gly1288=)
c.3808G= (p.Gly1270=)
c.3454G= (p.Gly1152=)
c.2143G= (p.Gly715=)
1g.11787926G>TCA338469725C1orf167,MTHFRc.3241G>T (p.Gly1081Ter)
c.3727G>T (p.Gly1243Ter)
c.*2754C>A (n.*2754C>A)
c.1877G>T
c.4848C>A (n.4848C>A)
c.3799G>T (p.Gly1267Ter)
c.1226G>T
c.1056G>T
n.658G>T
n.115G>T
c.3862G>T (p.Gly1288Ter)
c.3808G>T (p.Gly1270Ter)
c.3454G>T (p.Gly1152Ter)
c.2143G>T (p.Gly715Ter)
1g.11787927G>ACA338469730C1orf167,MTHFRc.3242G>A (p.Gly1081Glu)
c.3728G>A (p.Gly1243Glu)
c.*2753C>T (n.*2753C>T)
c.1878G>A
c.4847C>T (n.4847C>T)
c.3800G>A (p.Gly1267Glu)
c.1227G>A
c.1057G>A
n.659G>A
n.116G>A
c.3863G>A (p.Gly1288Glu)
c.3809G>A (p.Gly1270Glu)
c.3455G>A (p.Gly1152Glu)
c.2144G>A (p.Gly715Glu)
1g.11787927G>CCA338469732C1orf167,MTHFRc.3242G>C (p.Gly1081Ala)
c.3728G>C (p.Gly1243Ala)
c.*2753C>G (n.*2753C>G)
c.1878G>C
c.4847C>G (n.4847C>G)
c.3800G>C (p.Gly1267Ala)
c.1227G>C
c.1057G>C
n.659G>C
n.116G>C
c.3863G>C (p.Gly1288Ala)
c.3809G>C (p.Gly1270Ala)
c.3455G>C (p.Gly1152Ala)
c.2144G>C (p.Gly715Ala)
1g.11787927G>TCA338469734C1orf167,MTHFRc.3242G>T (p.Gly1081Val)
c.3728G>T (p.Gly1243Val)
c.*2753C>A (n.*2753C>A)
c.1878G>T
c.4847C>A (n.4847C>A)
c.3800G>T (p.Gly1267Val)
c.1227G>T
c.1057G>T
n.659G>T
n.116G>T
c.3863G>T (p.Gly1288Val)
c.3809G>T (p.Gly1270Val)
c.3455G>T (p.Gly1152Val)
c.2144G>T (p.Gly715Val)
1g.11787928A=CA1153786450C1orf167,MTHFRc.3243A= (p.Gly1081=)
c.3729A= (p.Gly1243=)
c.*2752T= (n.*2752T=)
c.1879A=
c.4846T= (n.4846T=)
c.3801A= (p.Gly1267=)
c.1228A=
c.1058A=
n.660A=
n.117A=
c.3864A= (p.Gly1288=)
c.3810A= (p.Gly1270=)
c.3456A= (p.Gly1152=)
c.2145A= (p.Gly715=)
1g.11787928A>CCA416361892C1orf167,MTHFRc.3243A>C (p.Gly1081=)
c.3729A>C (p.Gly1243=)
c.*2752T>G (n.*2752T>G)
c.1879A>C
c.4846T>G (n.4846T>G)
c.3801A>C (p.Gly1267=)
c.1228A>C
c.1058A>C
n.660A>C
n.117A>C
c.3864A>C (p.Gly1288=)
c.3810A>C (p.Gly1270=)
c.3456A>C (p.Gly1152=)
c.2145A>C (p.Gly715=)
 dbSNP
1g.11787928A>GCA416361894C1orf167,MTHFRc.3243A>G (p.Gly1081=)
c.3729A>G (p.Gly1243=)
c.*2752T>C (n.*2752T>C)
c.1879A>G
c.4846T>C (n.4846T>C)
c.3801A>G (p.Gly1267=)
c.1228A>G
c.1058A>G
n.660A>G
n.117A>G
c.3864A>G (p.Gly1288=)
c.3810A>G (p.Gly1270=)
c.3456A>G (p.Gly1152=)
c.2145A>G (p.Gly715=)
1g.11787928A>TCA416361893C1orf167,MTHFRc.3243A>T (p.Gly1081=)
c.3729A>T (p.Gly1243=)
c.*2752T>A (n.*2752T>A)
c.1879A>T
c.4846T>A (n.4846T>A)
c.3801A>T (p.Gly1267=)
c.1228A>T
c.1058A>T
n.660A>T
n.117A>T
c.3864A>T (p.Gly1288=)
c.3810A>T (p.Gly1270=)
c.3456A>T (p.Gly1152=)
c.2145A>T (p.Gly715=)
1g.11787929C>ACA595056C1orf167,MTHFRc.3244C>A (p.Gln1082Lys)
c.3730C>A (p.Gln1244Lys)
c.*2751G>T (n.*2751G>T)
c.1880C>A
c.4845G>T (n.4845G>T)
c.3802C>A (p.Gln1268Lys)
c.1229C>A
c.1059C>A
n.661C>A
n.118C>A
c.3865C>A (p.Gln1289Lys)
c.3811C>A (p.Gln1271Lys)
c.3457C>A (p.Gln1153Lys)
c.2146C>A (p.Gln716Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11787929C=CA1141607412C1orf167,MTHFRc.3244C= (p.Gln1082=)
c.3730C= (p.Gln1244=)
c.*2751G= (n.*2751G=)
c.1880C=
c.4845G= (n.4845G=)
c.3802C= (p.Gln1268=)
c.1229C=
c.1059C=
n.661C=
n.118C=
c.3865C= (p.Gln1289=)
c.3811C= (p.Gln1271=)
c.3457C= (p.Gln1153=)
c.2146C= (p.Gln716=)
1g.11787929C>GCA338469738C1orf167,MTHFRc.3244C>G (p.Gln1082Glu)
c.3730C>G (p.Gln1244Glu)
c.*2751G>C (n.*2751G>C)
c.1880C>G
c.4845G>C (n.4845G>C)
c.3802C>G (p.Gln1268Glu)
c.1229C>G
c.1059C>G
n.661C>G
n.118C>G
c.3865C>G (p.Gln1289Glu)
c.3811C>G (p.Gln1271Glu)
c.3457C>G (p.Gln1153Glu)
c.2146C>G (p.Gln716Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.11787929C>TCA338469739C1orf167,MTHFRc.3244C>T (p.Gln1082Ter)
c.3730C>T (p.Gln1244Ter)
c.*2751G>A (n.*2751G>A)
c.1880C>T
c.4845G>A (n.4845G>A)
c.3802C>T (p.Gln1268Ter)
c.1229C>T
c.1059C>T
n.661C>T
n.118C>T
c.3865C>T (p.Gln1289Ter)
c.3811C>T (p.Gln1271Ter)
c.3457C>T (p.Gln1153Ter)
c.2146C>T (p.Gln716Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.11787930A=CA1153786451C1orf167,MTHFRc.3245A= (p.Gln1082=)
c.3731A= (p.Gln1244=)
c.*2750T= (n.*2750T=)
c.1881A=
c.4844T= (n.4844T=)
c.3803A= (p.Gln1268=)
c.1230A=
c.1060A=
n.662A=
n.119A=
c.3866A= (p.Gln1289=)
c.3812A= (p.Gln1271=)
c.3458A= (p.Gln1153=)
c.2147A= (p.Gln716=)
1g.11787930A>CCA338469742C1orf167,MTHFRc.3245A>C (p.Gln1082Pro)
c.3731A>C (p.Gln1244Pro)
c.*2750T>G (n.*2750T>G)
c.1881A>C
c.4844T>G (n.4844T>G)
c.3803A>C (p.Gln1268Pro)
c.1230A>C
c.1060A>C
n.662A>C
n.119A>C
c.3866A>C (p.Gln1289Pro)
c.3812A>C (p.Gln1271Pro)
c.3458A>C (p.Gln1153Pro)
c.2147A>C (p.Gln716Pro)
1g.11787930A>GCA338469744C1orf167,MTHFRc.3245A>G (p.Gln1082Arg)
c.3731A>G (p.Gln1244Arg)
c.*2750T>C (n.*2750T>C)
c.1881A>G
c.4844T>C (n.4844T>C)
c.3803A>G (p.Gln1268Arg)
c.1230A>G
c.1060A>G
n.662A>G
n.119A>G
c.3866A>G (p.Gln1289Arg)
c.3812A>G (p.Gln1271Arg)
c.3458A>G (p.Gln1153Arg)
c.2147A>G (p.Gln716Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.11787930A>TCA338469746C1orf167,MTHFRc.3245A>T (p.Gln1082Leu)
c.3731A>T (p.Gln1244Leu)
c.*2750T>A (n.*2750T>A)
c.1881A>T
c.4844T>A (n.4844T>A)
c.3803A>T (p.Gln1268Leu)
c.1230A>T
c.1060A>T
n.662A>T
n.119A>T
c.3866A>T (p.Gln1289Leu)
c.3812A>T (p.Gln1271Leu)
c.3458A>T (p.Gln1153Leu)
c.2147A>T (p.Gln716Leu)
1g.11787931G>ACA416361900C1orf167,MTHFRc.3246G>A (p.Gln1082=)
c.3732G>A (p.Gln1244=)
c.*2749C>T (n.*2749C>T)
c.1882G>A
c.4843C>T (n.4843C>T)
c.3804G>A (p.Gln1268=)
c.1231G>A
c.1061G>A
n.663G>A
n.120G>A
c.3867G>A (p.Gln1289=)
c.3813G>A (p.Gln1271=)
c.3459G>A (p.Gln1153=)
c.2148G>A (p.Gln716=)
1g.11787931G>CCA338469748C1orf167,MTHFRc.3246G>C (p.Gln1082His)
c.3732G>C (p.Gln1244His)
c.*2749C>G (n.*2749C>G)
c.1882G>C
c.4843C>G (n.4843C>G)
c.3804G>C (p.Gln1268His)
c.1231G>C
c.1061G>C
n.663G>C
n.120G>C
c.3867G>C (p.Gln1289His)
c.3813G>C (p.Gln1271His)
c.3459G>C (p.Gln1153His)
c.2148G>C (p.Gln716His)
 gnomAD v4
1g.11787931G>TCA338469750C1orf167,MTHFRc.3246G>T (p.Gln1082His)
c.3732G>T (p.Gln1244His)
c.*2749C>A (n.*2749C>A)
c.1882G>T
c.4843C>A (n.4843C>A)
c.3804G>T (p.Gln1268His)
c.1231G>T
c.1061G>T
n.663G>T
n.120G>T
c.3867G>T (p.Gln1289His)
c.3813G>T (p.Gln1271His)
c.3459G>T (p.Gln1153His)
c.2148G>T (p.Gln716His)
 gnomAD v4
1g.11787932A=CA1153786452C1orf167,MTHFRc.3247A= (p.Ser1083=)
c.3733A= (p.Ser1245=)
c.*2748T= (n.*2748T=)
c.1883A=
c.4842T= (n.4842T=)
c.3805A= (p.Ser1269=)
c.1232A=
c.1062A=
n.664A=
n.121A=
c.3868A= (p.Ser1290=)
c.3814A= (p.Ser1272=)
c.3460A= (p.Ser1154=)
c.2149A= (p.Ser717=)
1g.11787932A>CCA338469753C1orf167,MTHFRc.3247A>C (p.Ser1083Arg)
c.3733A>C (p.Ser1245Arg)
c.*2748T>G (n.*2748T>G)
c.1883A>C
c.4842T>G (n.4842T>G)
c.3805A>C (p.Ser1269Arg)
c.1232A>C
c.1062A>C
n.664A>C
n.121A>C
c.3868A>C (p.Ser1290Arg)
c.3814A>C (p.Ser1272Arg)
c.3460A>C (p.Ser1154Arg)
c.2149A>C (p.Ser717Arg)
1g.11787932A>GCA338469756C1orf167,MTHFRc.3247A>G (p.Ser1083Gly)
c.3733A>G (p.Ser1245Gly)
c.*2748T>C (n.*2748T>C)
c.1883A>G
c.4842T>C (n.4842T>C)
c.3805A>G (p.Ser1269Gly)
c.1232A>G
c.1062A>G
n.664A>G
n.121A>G
c.3868A>G (p.Ser1290Gly)
c.3814A>G (p.Ser1272Gly)
c.3460A>G (p.Ser1154Gly)
c.2149A>G (p.Ser717Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.11787932A>TCA338469754C1orf167,MTHFRc.3247A>T (p.Ser1083Cys)
c.3733A>T (p.Ser1245Cys)
c.*2748T>A (n.*2748T>A)
c.1883A>T
c.4842T>A (n.4842T>A)
c.3805A>T (p.Ser1269Cys)
c.1232A>T
c.1062A>T
n.664A>T
n.121A>T
c.3868A>T (p.Ser1290Cys)
c.3814A>T (p.Ser1272Cys)
c.3460A>T (p.Ser1154Cys)
c.2149A>T (p.Ser717Cys)
1g.11787933G>ACA338469759C1orf167,MTHFRc.3248G>A (p.Ser1083Asn)
c.3734G>A (p.Ser1245Asn)
c.*2747C>T (n.*2747C>T)
c.1884G>A
c.4841C>T (n.4841C>T)
c.3806G>A (p.Ser1269Asn)
c.1233G>A
c.1063G>A
n.665G>A
n.122G>A
c.3869G>A (p.Ser1290Asn)
c.3815G>A (p.Ser1272Asn)
c.3461G>A (p.Ser1154Asn)
c.2150G>A (p.Ser717Asn)
 gnomAD v4
1g.11787933G>CCA338469761C1orf167,MTHFRc.3248G>C (p.Ser1083Thr)
c.3734G>C (p.Ser1245Thr)
c.*2747C>G (n.*2747C>G)
c.1884G>C
c.4841C>G (n.4841C>G)
c.3806G>C (p.Ser1269Thr)
c.1233G>C
c.1063G>C
n.665G>C
n.122G>C
c.3869G>C (p.Ser1290Thr)
c.3815G>C (p.Ser1272Thr)
c.3461G>C (p.Ser1154Thr)
c.2150G>C (p.Ser717Thr)
1g.11787933G>TCA338469763C1orf167,MTHFRc.3248G>T (p.Ser1083Ile)
c.3734G>T (p.Ser1245Ile)
c.*2747C>A (n.*2747C>A)
c.1884G>T
c.4841C>A (n.4841C>A)
c.3806G>T (p.Ser1269Ile)
c.1233G>T
c.1063G>T
n.665G>T
n.122G>T
c.3869G>T (p.Ser1290Ile)
c.3815G>T (p.Ser1272Ile)
c.3461G>T (p.Ser1154Ile)
c.2150G>T (p.Ser717Ile)
1g.11787934T>ACA17995934C1orf167,MTHFRc.3249T>A (p.Ser1083Arg)
c.3735T>A (p.Ser1245Arg)
c.*2746A>T (n.*2746A>T)
c.1885T>A
c.4840A>T (n.4840A>T)
c.3807T>A (p.Ser1269Arg)
c.1234T>A
c.1064T>A
n.666T>A
n.123T>A
c.3870T>A (p.Ser1290Arg)
c.3816T>A (p.Ser1272Arg)
c.3462T>A (p.Ser1154Arg)
c.2151T>A (p.Ser717Arg)
 dbSNP
1g.11787934T>CCA416361906C1orf167,MTHFRc.3249T>C (p.Ser1083=)
c.3735T>C (p.Ser1245=)
c.*2746A>G (n.*2746A>G)
c.1885T>C
c.4840A>G (n.4840A>G)
c.3807T>C (p.Ser1269=)
c.1234T>C
c.1064T>C
n.666T>C
n.123T>C
c.3870T>C (p.Ser1290=)
c.3816T>C (p.Ser1272=)
c.3462T>C (p.Ser1154=)
c.2151T>C (p.Ser717=)
1g.11787934T>GCA338469767C1orf167,MTHFRc.3249T>G (p.Ser1083Arg)
c.3735T>G (p.Ser1245Arg)
c.*2746A>C (n.*2746A>C)
c.1885T>G
c.4840A>C (n.4840A>C)
c.3807T>G (p.Ser1269Arg)
c.1234T>G
c.1064T>G
n.666T>G
n.123T>G
c.3870T>G (p.Ser1290Arg)
c.3816T>G (p.Ser1272Arg)
c.3462T>G (p.Ser1154Arg)
c.2151T>G (p.Ser717Arg)
1g.11787934T=CA1153786453C1orf167,MTHFRc.3249T= (p.Ser1083=)
c.3735T= (p.Ser1245=)
c.*2746A= (n.*2746A=)
c.1885T=
c.4840A= (n.4840A=)
c.3807T= (p.Ser1269=)
c.1234T=
c.1064T=
n.666T=
n.123T=
c.3870T= (p.Ser1290=)
c.3816T= (p.Ser1272=)
c.3462T= (p.Ser1154=)
c.2151T= (p.Ser717=)
1g.11787935A=CA1153786459C1orf167,MTHFRc.3250A= (p.Ser1084=)
c.3736A= (p.Ser1246=)
c.*2745T= (n.*2745T=)
c.1886A=
c.4839T= (n.4839T=)
c.3808A= (p.Ser1270=)
c.1235A=
c.1065A=
n.667A=
n.124A=
c.3871A= (p.Ser1291=)
c.3817A= (p.Ser1273=)
c.3463A= (p.Ser1155=)
c.2152A= (p.Ser718=)
1g.11787935A>CCA338469769C1orf167,MTHFRc.3250A>C (p.Ser1084Arg)
c.3736A>C (p.Ser1246Arg)
c.*2745T>G (n.*2745T>G)
c.1886A>C
c.4839T>G (n.4839T>G)
c.3808A>C (p.Ser1270Arg)
c.1235A>C
c.1065A>C
n.667A>C
n.124A>C
c.3871A>C (p.Ser1291Arg)
c.3817A>C (p.Ser1273Arg)
c.3463A>C (p.Ser1155Arg)
c.2152A>C (p.Ser718Arg)
1g.11787935A>GCA338469771C1orf167,MTHFRc.3250A>G (p.Ser1084Gly)
c.3736A>G (p.Ser1246Gly)
c.*2745T>C (n.*2745T>C)
c.1886A>G
c.4839T>C (n.4839T>C)
c.3808A>G (p.Ser1270Gly)
c.1235A>G
c.1065A>G
n.667A>G
n.124A>G
c.3871A>G (p.Ser1291Gly)
c.3817A>G (p.Ser1273Gly)
c.3463A>G (p.Ser1155Gly)
c.2152A>G (p.Ser718Gly)
 gnomAD v4
1g.11787935A>TCA338469773C1orf167,MTHFRc.3250A>T (p.Ser1084Cys)
c.3736A>T (p.Ser1246Cys)
c.*2745T>A (n.*2745T>A)
c.1886A>T
c.4839T>A (n.4839T>A)
c.3808A>T (p.Ser1270Cys)
c.1235A>T
c.1065A>T
n.667A>T
n.124A>T
c.3871A>T (p.Ser1291Cys)
c.3817A>T (p.Ser1273Cys)
c.3463A>T (p.Ser1155Cys)
c.2152A>T (p.Ser718Cys)
 dbSNP
1g.11787935dupCA2643295229C1orf167,MTHFRc.3250dup (p.Ser1084LysfsTer22)
c.3736dup (p.Ser1246LysfsTer22)
c.*2745dup (n.*2745dup)
c.1886dup
c.4839dup (n.4839dup)
c.3808dup (p.Ser1270LysfsTer22)
c.1235dup
c.1065dup
n.667dup
n.124dup
c.3871dup (p.Ser1291LysfsTer22)
c.3817dup (p.Ser1273LysfsTer22)
c.3463dup (p.Ser1155LysfsTer22)
c.2152dup (p.Ser718LysfsTer22)
 gnomAD v4
1g.11787936G>ACA338469776C1orf167,MTHFRc.3251G>A (p.Ser1084Asn)
c.3737G>A (p.Ser1246Asn)
c.*2744C>T (n.*2744C>T)
c.1887G>A
c.4838C>T (n.4838C>T)
c.3809G>A (p.Ser1270Asn)
c.1236G>A
c.1066G>A
n.668G>A
n.125G>A
c.3872G>A (p.Ser1291Asn)
c.3818G>A (p.Ser1273Asn)
c.3464G>A (p.Ser1155Asn)
c.2153G>A (p.Ser718Asn)
1g.11787936G>CCA338469778C1orf167,MTHFRc.3251G>C (p.Ser1084Thr)
c.3737G>C (p.Ser1246Thr)
c.*2744C>G (n.*2744C>G)
c.1887G>C
c.4838C>G (n.4838C>G)
c.3809G>C (p.Ser1270Thr)
c.1236G>C
c.1066G>C
n.668G>C
n.125G>C
c.3872G>C (p.Ser1291Thr)
c.3818G>C (p.Ser1273Thr)
c.3464G>C (p.Ser1155Thr)
c.2153G>C (p.Ser718Thr)
1g.11787936G>TCA338469780C1orf167,MTHFRc.3251G>T (p.Ser1084Ile)
c.3737G>T (p.Ser1246Ile)
c.*2744C>A (n.*2744C>A)
c.1887G>T
c.4838C>A (n.4838C>A)
c.3809G>T (p.Ser1270Ile)
c.1236G>T
c.1066G>T
n.668G>T
n.125G>T
c.3872G>T (p.Ser1291Ile)
c.3818G>T (p.Ser1273Ile)
c.3464G>T (p.Ser1155Ile)
c.2153G>T (p.Ser718Ile)
1g.11787937C>ACA338469784C1orf167,MTHFRc.3252C>A (p.Ser1084Arg)
c.3738C>A (p.Ser1246Arg)
c.*2743G>T (n.*2743G>T)
c.1888C>A
c.4837G>T (n.4837G>T)
c.3810C>A (p.Ser1270Arg)
c.1237C>A
c.1067C>A
n.669C>A
n.126C>A
c.3873C>A (p.Ser1291Arg)
c.3819C>A (p.Ser1273Arg)
c.3465C>A (p.Ser1155Arg)
c.2154C>A (p.Ser718Arg)
1g.11787937C=CA1153786462C1orf167,MTHFRc.3252C= (p.Ser1084=)
c.3738C= (p.Ser1246=)
c.*2743G= (n.*2743G=)
c.1888C=
c.4837G= (n.4837G=)
c.3810C= (p.Ser1270=)
c.1237C=
c.1067C=
n.669C=
n.126C=
c.3873C= (p.Ser1291=)
c.3819C= (p.Ser1273=)
c.3465C= (p.Ser1155=)
c.2154C= (p.Ser718=)
1g.11787937C>GCA338469782C1orf167,MTHFRc.3252C>G (p.Ser1084Arg)
c.3738C>G (p.Ser1246Arg)
c.*2743G>C (n.*2743G>C)
c.1888C>G
c.4837G>C (n.4837G>C)
c.3810C>G (p.Ser1270Arg)
c.1237C>G
c.1067C>G
n.669C>G
n.126C>G
c.3873C>G (p.Ser1291Arg)
c.3819C>G (p.Ser1273Arg)
c.3465C>G (p.Ser1155Arg)
c.2154C>G (p.Ser718Arg)
 dbSNP
1g.11787937C>TCA416361910C1orf167,MTHFRc.3252C>T (p.Ser1084=)
c.3738C>T (p.Ser1246=)
c.*2743G>A (n.*2743G>A)
c.1888C>T
c.4837G>A (n.4837G>A)
c.3810C>T (p.Ser1270=)
c.1237C>T
c.1067C>T
n.669C>T
n.126C>T
c.3873C>T (p.Ser1291=)
c.3819C>T (p.Ser1273=)
c.3465C>T (p.Ser1155=)
c.2154C>T (p.Ser718=)
1g.11787938T>ACA338469785C1orf167,MTHFRc.3253T>A (p.Trp1085Arg)
c.3739T>A (p.Trp1247Arg)
c.*2742A>T (n.*2742A>T)
c.1889T>A
c.4836A>T (n.4836A>T)
c.3811T>A (p.Trp1271Arg)
c.1238T>A
c.1068T>A
n.670T>A
n.127T>A
c.3874T>A (p.Trp1292Arg)
c.3820T>A (p.Trp1274Arg)
c.3466T>A (p.Trp1156Arg)
c.2155T>A (p.Trp719Arg)
1g.11787938T>CCA17995939C1orf167,MTHFRc.3253T>C (p.Trp1085Arg)
c.3739T>C (p.Trp1247Arg)
c.*2742A>G (n.*2742A>G)
c.1889T>C
c.4836A>G (n.4836A>G)
c.3811T>C (p.Trp1271Arg)
c.1238T>C
c.1068T>C
n.670T>C
n.127T>C
c.3874T>C (p.Trp1292Arg)
c.3820T>C (p.Trp1274Arg)
c.3466T>C (p.Trp1156Arg)
c.2155T>C (p.Trp719Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.11787938T>GCA338469786C1orf167,MTHFRc.3253T>G (p.Trp1085Gly)
c.3739T>G (p.Trp1247Gly)
c.*2742A>C (n.*2742A>C)
c.1889T>G
c.4836A>C (n.4836A>C)
c.3811T>G (p.Trp1271Gly)
c.1238T>G
c.1068T>G
n.670T>G
n.127T>G
c.3874T>G (p.Trp1292Gly)
c.3820T>G (p.Trp1274Gly)
c.3466T>G (p.Trp1156Gly)
c.2155T>G (p.Trp719Gly)
1g.11787938T=CA1153786468C1orf167,MTHFRc.3253T= (p.Trp1085=)
c.3739T= (p.Trp1247=)
c.*2742A= (n.*2742A=)
c.1889T=
c.4836A= (n.4836A=)
c.3811T= (p.Trp1271=)
c.1238T=
c.1068T=
n.670T=
n.127T=
c.3874T= (p.Trp1292=)
c.3820T= (p.Trp1274=)
c.3466T= (p.Trp1156=)
c.2155T= (p.Trp719=)
1g.11787939G>ACA338469788C1orf167,MTHFRc.3254G>A (p.Trp1085Ter)
c.3740G>A (p.Trp1247Ter)
c.*2741C>T (n.*2741C>T)
c.1890G>A
c.4835C>T (n.4835C>T)
c.3812G>A (p.Trp1271Ter)
c.1239G>A
c.1069G>A
n.671G>A
n.128G>A
c.3875G>A (p.Trp1292Ter)
c.3821G>A (p.Trp1274Ter)
c.3467G>A (p.Trp1156Ter)
c.2156G>A (p.Trp719Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.11787939G>CCA338469789C1orf167,MTHFRc.3254G>C (p.Trp1085Ser)
c.3740G>C (p.Trp1247Ser)
c.*2741C>G (n.*2741C>G)
c.1890G>C
c.4835C>G (n.4835C>G)
c.3812G>C (p.Trp1271Ser)
c.1239G>C
c.1069G>C
n.671G>C
n.128G>C
c.3875G>C (p.Trp1292Ser)
c.3821G>C (p.Trp1274Ser)
c.3467G>C (p.Trp1156Ser)
c.2156G>C (p.Trp719Ser)
1g.11787939G=CA1153786469C1orf167,MTHFRc.3254G= (p.Trp1085=)
c.3740G= (p.Trp1247=)
c.*2741C= (n.*2741C=)
c.1890G=
c.4835C= (n.4835C=)
c.3812G= (p.Trp1271=)
c.1239G=
c.1069G=
n.671G=
n.128G=
c.3875G= (p.Trp1292=)
c.3821G= (p.Trp1274=)
c.3467G= (p.Trp1156=)
c.2156G= (p.Trp719=)
1g.11787939G>TCA338469790C1orf167,MTHFRc.3254G>T (p.Trp1085Leu)
c.3740G>T (p.Trp1247Leu)
c.*2741C>A (n.*2741C>A)
c.1890G>T
c.4835C>A (n.4835C>A)
c.3812G>T (p.Trp1271Leu)
c.1239G>T
c.1069G>T
n.671G>T
n.128G>T
c.3875G>T (p.Trp1292Leu)
c.3821G>T (p.Trp1274Leu)
c.3467G>T (p.Trp1156Leu)
c.2156G>T (p.Trp719Leu)
1g.11787941delCA2643295234C1orf167,MTHFRc.3256del (p.Val1086SerfsTer?)
c.3742del (p.Val1248SerfsTer?)
c.*2741del (n.*2741del)
c.1892del
c.4835del (n.4835del)
c.3814del (p.Val1272SerfsTer?)
c.1241del
c.1071del
n.673del
n.130del
c.3877del (p.Val1293SerfsTer?)
c.3823del (p.Val1275SerfsTer?)
c.3469del (p.Val1157SerfsTer?)
c.2158del (p.Val720SerfsTer?)
 gnomAD v4
1g.11787940G>ACA338469793C1orf167,MTHFRc.3255G>A (p.Trp1085Ter)
c.3741G>A (p.Trp1247Ter)
c.*2740C>T (n.*2740C>T)
c.1891G>A
c.4834C>T (n.4834C>T)
c.3813G>A (p.Trp1271Ter)
c.1240G>A
c.1070G>A
n.672G>A
n.129G>A
c.3876G>A (p.Trp1292Ter)
c.3822G>A (p.Trp1274Ter)
c.3468G>A (p.Trp1156Ter)
c.2157G>A (p.Trp719Ter)
 dbSNP gnomAD v4
1g.11787940G>CCA338469794C1orf167,MTHFRc.3255G>C (p.Trp1085Cys)
c.3741G>C (p.Trp1247Cys)
c.*2740C>G (n.*2740C>G)
c.1891G>C
c.4834C>G (n.4834C>G)
c.3813G>C (p.Trp1271Cys)
c.1240G>C
c.1070G>C
n.672G>C
n.129G>C
c.3876G>C (p.Trp1292Cys)
c.3822G>C (p.Trp1274Cys)
c.3468G>C (p.Trp1156Cys)
c.2157G>C (p.Trp719Cys)
 dbSNP
1g.11787940G=CA1153786473C1orf167,MTHFRc.3255G= (p.Trp1085=)
c.3741G= (p.Trp1247=)
c.*2740C= (n.*2740C=)
c.1891G=
c.4834C= (n.4834C=)
c.3813G= (p.Trp1271=)
c.1240G=
c.1070G=
n.672G=
n.129G=
c.3876G= (p.Trp1292=)
c.3822G= (p.Trp1274=)
c.3468G= (p.Trp1156=)
c.2157G= (p.Trp719=)
1g.11787940G>TCA338469796C1orf167,MTHFRc.3255G>T (p.Trp1085Cys)
c.3741G>T (p.Trp1247Cys)
c.*2740C>A (n.*2740C>A)
c.1891G>T
c.4834C>A (n.4834C>A)
c.3813G>T (p.Trp1271Cys)
c.1240G>T
c.1070G>T
n.672G>T
n.129G>T
c.3876G>T (p.Trp1292Cys)
c.3822G>T (p.Trp1274Cys)
c.3468G>T (p.Trp1156Cys)
c.2157G>T (p.Trp719Cys)
1g.11787941G>ACA338469799C1orf167,MTHFRc.3256G>A (p.Val1086Ile)
c.3742G>A (p.Val1248Ile)
c.*2739C>T (n.*2739C>T)
c.1892G>A
c.4833C>T (n.4833C>T)
c.3814G>A (p.Val1272Ile)
c.1241G>A
c.1071G>A
n.673G>A
n.130G>A
c.3877G>A (p.Val1293Ile)
c.3823G>A (p.Val1275Ile)
c.3469G>A (p.Val1157Ile)
c.2158G>A (p.Val720Ile)
1g.11787941G>CCA338469801C1orf167,MTHFRc.3256G>C (p.Val1086Leu)
c.3742G>C (p.Val1248Leu)
c.*2739C>G (n.*2739C>G)
c.1892G>C
c.4833C>G (n.4833C>G)
c.3814G>C (p.Val1272Leu)
c.1241G>C
c.1071G>C
n.673G>C
n.130G>C
c.3877G>C (p.Val1293Leu)
c.3823G>C (p.Val1275Leu)
c.3469G>C (p.Val1157Leu)
c.2158G>C (p.Val720Leu)
1g.11787941G=CA1153786478C1orf167,MTHFRc.3256G= (p.Val1086=)
c.3742G= (p.Val1248=)
c.*2739C= (n.*2739C=)
c.1892G=
c.4833C= (n.4833C=)
c.3814G= (p.Val1272=)
c.1241G=
c.1071G=
n.673G=
n.130G=
c.3877G= (p.Val1293=)
c.3823G= (p.Val1275=)
c.3469G= (p.Val1157=)
c.2158G= (p.Val720=)
1g.11787941G>TCA338469802C1orf167,MTHFRc.3256G>T (p.Val1086Phe)
c.3742G>T (p.Val1248Phe)
c.*2739C>A (n.*2739C>A)
c.1892G>T
c.4833C>A (n.4833C>A)
c.3814G>T (p.Val1272Phe)
c.1241G>T
c.1071G>T
n.673G>T
n.130G>T
c.3877G>T (p.Val1293Phe)
c.3823G>T (p.Val1275Phe)
c.3469G>T (p.Val1157Phe)
c.2158G>T (p.Val720Phe)
 dbSNP gnomAD v4
1g.11787942T>ACA338469804C1orf167,MTHFRc.3257T>A (p.Val1086Asp)
c.3743T>A (p.Val1248Asp)
c.*2738A>T (n.*2738A>T)
c.1893T>A
c.4832A>T (n.4832A>T)
c.3815T>A (p.Val1272Asp)
c.1242T>A
c.1072T>A
n.674T>A
n.131T>A
c.3878T>A (p.Val1293Asp)
c.3824T>A (p.Val1275Asp)
c.3470T>A (p.Val1157Asp)
c.2159T>A (p.Val720Asp)
1g.11787942T>CCA338469806C1orf167,MTHFRc.3257T>C (p.Val1086Ala)
c.3743T>C (p.Val1248Ala)
c.*2738A>G (n.*2738A>G)
c.1893T>C
c.4832A>G (n.4832A>G)
c.3815T>C (p.Val1272Ala)
c.1242T>C
c.1072T>C
n.674T>C
n.131T>C
c.3878T>C (p.Val1293Ala)
c.3824T>C (p.Val1275Ala)
c.3470T>C (p.Val1157Ala)
c.2159T>C (p.Val720Ala)
1g.11787942T>GCA338469808C1orf167,MTHFRc.3257T>G (p.Val1086Gly)
c.3743T>G (p.Val1248Gly)
c.*2738A>C (n.*2738A>C)
c.1893T>G
c.4832A>C (n.4832A>C)
c.3815T>G (p.Val1272Gly)
c.1242T>G
c.1072T>G
n.674T>G
n.131T>G
c.3878T>G (p.Val1293Gly)
c.3824T>G (p.Val1275Gly)
c.3470T>G (p.Val1157Gly)
c.2159T>G (p.Val720Gly)
 dbSNP
1g.11787942T=CA1153786483C1orf167,MTHFRc.3257T= (p.Val1086=)
c.3743T= (p.Val1248=)
c.*2738A= (n.*2738A=)
c.1893T=
c.4832A= (n.4832A=)
c.3815T= (p.Val1272=)
c.1242T=
c.1072T=
n.674T=
n.131T=
c.3878T= (p.Val1293=)
c.3824T= (p.Val1275=)
c.3470T= (p.Val1157=)
c.2159T= (p.Val720=)
1g.11787943C>ACA416361917C1orf167,MTHFRc.3258C>A (p.Val1086=)
c.3744C>A (p.Val1248=)
c.*2737G>T (n.*2737G>T)
c.1894C>A
c.4831G>T (n.4831G>T)
c.3816C>A (p.Val1272=)
c.1243C>A
c.1073C>A
n.675C>A
n.132C>A
c.3879C>A (p.Val1293=)
c.3825C>A (p.Val1275=)
c.3471C>A (p.Val1157=)
c.2160C>A (p.Val720=)
1g.11787943C=CA1153786489C1orf167,MTHFRc.3258C= (p.Val1086=)
c.3744C= (p.Val1248=)
c.*2737G= (n.*2737G=)
c.1894C=
c.4831G= (n.4831G=)
c.3816C= (p.Val1272=)
c.1243C=
c.1073C=
n.675C=
n.132C=
c.3879C= (p.Val1293=)
c.3825C= (p.Val1275=)
c.3471C= (p.Val1157=)
c.2160C= (p.Val720=)
1g.11787943C>GCA416361918C1orf167,MTHFRc.3258C>G (p.Val1086=)
c.3744C>G (p.Val1248=)
c.*2737G>C (n.*2737G>C)
c.1894C>G
c.4831G>C (n.4831G>C)
c.3816C>G (p.Val1272=)
c.1243C>G
c.1073C>G
n.675C>G
n.132C>G
c.3879C>G (p.Val1293=)
c.3825C>G (p.Val1275=)
c.3471C>G (p.Val1157=)
c.2160C>G (p.Val720=)
1g.11787943C>TCA17995949C1orf167,MTHFRc.3258C>T (p.Val1086=)
c.3744C>T (p.Val1248=)
c.*2737G>A (n.*2737G>A)
c.1894C>T
c.4831G>A (n.4831G>A)
c.3816C>T (p.Val1272=)
c.1243C>T
c.1073C>T
n.675C>T
n.132C>T
c.3879C>T (p.Val1293=)
c.3825C>T (p.Val1275=)
c.3471C>T (p.Val1157=)
c.2160C>T (p.Val720=)
 dbSNP
1g.11787945dupCA1153786486C1orf167,MTHFRc.3260dup (p.Gly1088ArgfsTer18)
c.3746dup (p.Gly1250ArgfsTer18)
c.*2737dup (n.*2737dup)
c.1896dup
c.4831dup (n.4831dup)
c.3818dup (p.Gly1274ArgfsTer18)
c.1245dup
c.1075dup
n.677dup
n.134dup
c.3881dup (p.Gly1295ArgfsTer18)
c.3827dup (p.Gly1277ArgfsTer18)
c.3473dup (p.Gly1159ArgfsTer18)
c.2162dup (p.Gly722ArgfsTer18)
 dbSNP gnomAD v4
1g.11787944_11787945delCA2695292918C1orf167,MTHFRc.3259_3260del (p.Pro1087ArgfsTer18)
c.3745_3746del (p.Pro1249ArgfsTer18)
c.*2736_*2737del (n.*2736_*2737del)
c.1895_1896del
c.4830_4831del (n.4830_4831del)
c.3817_3818del (p.Pro1273ArgfsTer18)
c.1244_1245del
c.1074_1075del
n.676_677del
n.133_134del
c.3880_3881del (p.Pro1294ArgfsTer18)
c.3826_3827del (p.Pro1276ArgfsTer18)
c.3472_3473del (p.Pro1158ArgfsTer18)
c.2161_2162del (p.Pro721ArgfsTer18)
 dbSNP
1g.11787944C>ACA338469814C1orf167,MTHFRc.3259C>A (p.Pro1087Thr)
c.3745C>A (p.Pro1249Thr)
c.*2736G>T (n.*2736G>T)
c.1895C>A
c.4830G>T (n.4830G>T)
c.3817C>A (p.Pro1273Thr)
c.1244C>A
c.1074C>A
n.676C>A
n.133C>A
c.3880C>A (p.Pro1294Thr)
c.3826C>A (p.Pro1276Thr)
c.3472C>A (p.Pro1158Thr)
c.2161C>A (p.Pro721Thr)
1g.11787944C>GCA338469810C1orf167,MTHFRc.3259C>G (p.Pro1087Ala)
c.3745C>G (p.Pro1249Ala)
c.*2736G>C (n.*2736G>C)
c.1895C>G
c.4830G>C (n.4830G>C)
c.3817C>G (p.Pro1273Ala)
c.1244C>G
c.1074C>G
n.676C>G
n.133C>G
c.3880C>G (p.Pro1294Ala)
c.3826C>G (p.Pro1276Ala)
c.3472C>G (p.Pro1158Ala)
c.2161C>G (p.Pro721Ala)
1g.11787944C>TCA338469812C1orf167,MTHFRc.3259C>T (p.Pro1087Ser)
c.3745C>T (p.Pro1249Ser)
c.*2736G>A (n.*2736G>A)
c.1895C>T
c.4830G>A (n.4830G>A)
c.3817C>T (p.Pro1273Ser)
c.1244C>T
c.1074C>T
n.676C>T
n.133C>T
c.3880C>T (p.Pro1294Ser)
c.3826C>T (p.Pro1276Ser)
c.3472C>T (p.Pro1158Ser)
c.2161C>T (p.Pro721Ser)
1g.11787945C>ACA338469816C1orf167,MTHFRc.3260C>A (p.Pro1087Gln)
c.3746C>A (p.Pro1249Gln)
c.*2735G>T (n.*2735G>T)
c.1896C>A
c.4829G>T (n.4829G>T)
c.3818C>A (p.Pro1273Gln)
c.1245C>A
c.1075C>A
n.677C>A
n.134C>A
c.3881C>A (p.Pro1294Gln)
c.3827C>A (p.Pro1276Gln)
c.3473C>A (p.Pro1158Gln)
c.2162C>A (p.Pro721Gln)
 gnomAD v4
1g.11787945C=CA1153786495C1orf167,MTHFRc.3260C= (p.Pro1087=)
c.3746C= (p.Pro1249=)
c.*2735G= (n.*2735G=)
c.1896C=
c.4829G= (n.4829G=)
c.3818C= (p.Pro1273=)
c.1245C=
c.1075C=
n.677C=
n.134C=
c.3881C= (p.Pro1294=)
c.3827C= (p.Pro1276=)
c.3473C= (p.Pro1158=)
c.2162C= (p.Pro721=)
1g.11787945C>GCA338469818C1orf167,MTHFRc.3260C>G (p.Pro1087Arg)
c.3746C>G (p.Pro1249Arg)
c.*2735G>C (n.*2735G>C)
c.1896C>G
c.4829G>C (n.4829G>C)
c.3818C>G (p.Pro1273Arg)
c.1245C>G
c.1075C>G
n.677C>G
n.134C>G
c.3881C>G (p.Pro1294Arg)
c.3827C>G (p.Pro1276Arg)
c.3473C>G (p.Pro1158Arg)
c.2162C>G (p.Pro721Arg)
1g.11787945C>TCA338469820C1orf167,MTHFRc.3260C>T (p.Pro1087Leu)
c.3746C>T (p.Pro1249Leu)
c.*2735G>A (n.*2735G>A)
c.1896C>T
c.4829G>A (n.4829G>A)
c.3818C>T (p.Pro1273Leu)
c.1245C>T
c.1075C>T
n.677C>T
n.134C>T
c.3881C>T (p.Pro1294Leu)
c.3827C>T (p.Pro1276Leu)
c.3473C>T (p.Pro1158Leu)
c.2162C>T (p.Pro721Leu)
 dbSNP
1g.11787946A>CCA416361923C1orf167,MTHFRc.3261A>C (p.Pro1087=)
c.3747A>C (p.Pro1249=)
c.*2734T>G (n.*2734T>G)
c.1897A>C
c.4828T>G (n.4828T>G)
c.3819A>C (p.Pro1273=)
c.1246A>C
c.1076A>C
n.678A>C
n.135A>C
c.3882A>C (p.Pro1294=)
c.3828A>C (p.Pro1276=)
c.3474A>C (p.Pro1158=)
c.2163A>C (p.Pro721=)
1g.11787946A>GCA416361924C1orf167,MTHFRc.3261A>G (p.Pro1087=)
c.3747A>G (p.Pro1249=)
c.*2734T>C (n.*2734T>C)
c.1897A>G
c.4828T>C (n.4828T>C)
c.3819A>G (p.Pro1273=)
c.1246A>G
c.1076A>G
n.678A>G
n.135A>G
c.3882A>G (p.Pro1294=)
c.3828A>G (p.Pro1276=)
c.3474A>G (p.Pro1158=)
c.2163A>G (p.Pro721=)
1g.11787946A>TCA416361925C1orf167,MTHFRc.3261A>T (p.Pro1087=)
c.3747A>T (p.Pro1249=)
c.*2734T>A (n.*2734T>A)
c.1897A>T
c.4828T>A (n.4828T>A)
c.3819A>T (p.Pro1273=)
c.1246A>T
c.1076A>T
n.678A>T
n.135A>T
c.3882A>T (p.Pro1294=)
c.3828A>T (p.Pro1276=)
c.3474A>T (p.Pro1158=)
c.2163A>T (p.Pro721=)
1g.11787947G>ACA338469823C1orf167,MTHFRc.3262G>A (p.Gly1088Ser)
c.3748G>A (p.Gly1250Ser)
c.*2733C>T (n.*2733C>T)
c.1898G>A
c.4827C>T (n.4827C>T)
c.3820G>A (p.Gly1274Ser)
c.1247G>A
c.1077G>A
n.679G>A
n.136G>A
c.3883G>A (p.Gly1295Ser)
c.3829G>A (p.Gly1277Ser)
c.3475G>A (p.Gly1159Ser)
c.2164G>A (p.Gly722Ser)
1g.11787947G>CCA17995964C1orf167,MTHFRc.3262G>C (p.Gly1088Arg)
c.3748G>C (p.Gly1250Arg)
c.*2733C>G (n.*2733C>G)
c.1898G>C
c.4827C>G (n.4827C>G)
c.3820G>C (p.Gly1274Arg)
c.1247G>C
c.1077G>C
n.679G>C
n.136G>C
c.3883G>C (p.Gly1295Arg)
c.3829G>C (p.Gly1277Arg)
c.3475G>C (p.Gly1159Arg)
c.2164G>C (p.Gly722Arg)
 dbSNP
1g.11787947G=CA1153786499C1orf167,MTHFRc.3262G= (p.Gly1088=)
c.3748G= (p.Gly1250=)
c.*2733C= (n.*2733C=)
c.1898G=
c.4827C= (n.4827C=)
c.3820G= (p.Gly1274=)
c.1247G=
c.1077G=
n.679G=
n.136G=
c.3883G= (p.Gly1295=)
c.3829G= (p.Gly1277=)
c.3475G= (p.Gly1159=)
c.2164G= (p.Gly722=)
1g.11787947G>TCA338469826C1orf167,MTHFRc.3262G>T (p.Gly1088Cys)
c.3748G>T (p.Gly1250Cys)
c.*2733C>A (n.*2733C>A)
c.1898G>T
c.4827C>A (n.4827C>A)
c.3820G>T (p.Gly1274Cys)
c.1247G>T
c.1077G>T
n.679G>T
n.136G>T
c.3883G>T (p.Gly1295Cys)
c.3829G>T (p.Gly1277Cys)
c.3475G>T (p.Gly1159Cys)
c.2164G>T (p.Gly722Cys)
1g.11787948G>ACA338469828C1orf167,MTHFRc.3263G>A (p.Gly1088Asp)
c.3749G>A (p.Gly1250Asp)
c.*2732C>T (n.*2732C>T)
c.1899G>A
c.4826C>T (n.4826C>T)
c.3821G>A (p.Gly1274Asp)
c.1248G>A
c.1078G>A
n.680G>A
n.137G>A
c.3884G>A (p.Gly1295Asp)
c.3830G>A (p.Gly1277Asp)
c.3476G>A (p.Gly1159Asp)
c.2165G>A (p.Gly722Asp)
1g.11787948G>CCA338469830C1orf167,MTHFRc.3263G>C (p.Gly1088Ala)
c.3749G>C (p.Gly1250Ala)
c.*2732C>G (n.*2732C>G)
c.1899G>C
c.4826C>G (n.4826C>G)
c.3821G>C (p.Gly1274Ala)
c.1248G>C
c.1078G>C
n.680G>C
n.137G>C
c.3884G>C (p.Gly1295Ala)
c.3830G>C (p.Gly1277Ala)
c.3476G>C (p.Gly1159Ala)
c.2165G>C (p.Gly722Ala)
1g.11787948G=CA1153786502C1orf167,MTHFRc.3263G= (p.Gly1088=)
c.3749G= (p.Gly1250=)
c.*2732C= (n.*2732C=)
c.1899G=
c.4826C= (n.4826C=)
c.3821G= (p.Gly1274=)
c.1248G=
c.1078G=
n.680G=
n.137G=
c.3884G= (p.Gly1295=)
c.3830G= (p.Gly1277=)
c.3476G= (p.Gly1159=)
c.2165G= (p.Gly722=)
1g.11787948G>TCA17995978C1orf167,MTHFRc.3263G>T (p.Gly1088Val)
c.3749G>T (p.Gly1250Val)
c.*2732C>A (n.*2732C>A)
c.1899G>T
c.4826C>A (n.4826C>A)
c.3821G>T (p.Gly1274Val)
c.1248G>T
c.1078G>T
n.680G>T
n.137G>T
c.3884G>T (p.Gly1295Val)
c.3830G>T (p.Gly1277Val)
c.3476G>T (p.Gly1159Val)
c.2165G>T (p.Gly722Val)
 dbSNP gnomAD v2 gnomAD v4
1g.11787949C>ACA416361928C1orf167,MTHFRc.3264C>A (p.Gly1088=)
c.3750C>A (p.Gly1250=)
c.*2731G>T (n.*2731G>T)
c.1900C>A
c.4825G>T (n.4825G>T)
c.3822C>A (p.Gly1274=)
c.1249C>A
c.1079C>A
n.681C>A
n.138C>A
c.3885C>A (p.Gly1295=)
c.3831C>A (p.Gly1277=)
c.3477C>A (p.Gly1159=)
c.2166C>A (p.Gly722=)
 gnomAD v4
1g.11787949C>GCA416361929C1orf167,MTHFRc.3264C>G (p.Gly1088=)
c.3750C>G (p.Gly1250=)
c.*2731G>C (n.*2731G>C)
c.1900C>G
c.4825G>C (n.4825G>C)
c.3822C>G (p.Gly1274=)
c.1249C>G
c.1079C>G
n.681C>G
n.138C>G
c.3885C>G (p.Gly1295=)
c.3831C>G (p.Gly1277=)
c.3477C>G (p.Gly1159=)
c.2166C>G (p.Gly722=)
1g.11787949C>TCA416361932C1orf167,MTHFRc.3264C>T (p.Gly1088=)
c.3750C>T (p.Gly1250=)
c.*2731G>A (n.*2731G>A)
c.1900C>T
c.4825G>A (n.4825G>A)
c.3822C>T (p.Gly1274=)
c.1249C>T
c.1079C>T
n.681C>T
n.138C>T
c.3885C>T (p.Gly1295=)
c.3831C>T (p.Gly1277=)
c.3477C>T (p.Gly1159=)
c.2166C>T (p.Gly722=)
1g.11787950C>ACA338469834C1orf167,MTHFRc.3265C>A (p.Leu1089Met)
c.3751C>A (p.Leu1251Met)
c.*2730G>T (n.*2730G>T)
c.1901C>A
c.4824G>T (n.4824G>T)
c.3823C>A (p.Leu1275Met)
c.1250C>A
c.1080C>A
n.682C>A
n.139C>A
c.3886C>A (p.Leu1296Met)
c.3832C>A (p.Leu1278Met)
c.3478C>A (p.Leu1160Met)
c.2167C>A (p.Leu723Met)
 gnomAD v4
1g.11787950C>GCA338469836C1orf167,MTHFRc.3265C>G (p.Leu1089Val)
c.3751C>G (p.Leu1251Val)
c.*2730G>C (n.*2730G>C)
c.1901C>G
c.4824G>C (n.4824G>C)
c.3823C>G (p.Leu1275Val)
c.1250C>G
c.1080C>G
n.682C>G
n.139C>G
c.3886C>G (p.Leu1296Val)
c.3832C>G (p.Leu1278Val)
c.3478C>G (p.Leu1160Val)
c.2167C>G (p.Leu723Val)
1g.11787950C>TCA416361934C1orf167,MTHFRc.3265C>T (p.Leu1089=)
c.3751C>T (p.Leu1251=)
c.*2730G>A (n.*2730G>A)
c.1901C>T
c.4824G>A (n.4824G>A)
c.3823C>T (p.Leu1275=)
c.1250C>T
c.1080C>T
n.682C>T
n.139C>T
c.3886C>T (p.Leu1296=)
c.3832C>T (p.Leu1278=)
c.3478C>T (p.Leu1160=)
c.2167C>T (p.Leu723=)
 gnomAD v4
1g.11787951T>ACA338469840C1orf167,MTHFRc.3266T>A (p.Leu1089Gln)
c.3752T>A (p.Leu1251Gln)
c.*2729A>T (n.*2729A>T)
c.1902T>A
c.4823A>T (n.4823A>T)
c.3824T>A (p.Leu1275Gln)
c.1251T>A
c.1081T>A
n.683T>A
n.140T>A
c.3887T>A (p.Leu1296Gln)
c.3833T>A (p.Leu1278Gln)
c.3479T>A (p.Leu1160Gln)
c.2168T>A (p.Leu723Gln)
1g.11787951T>CCA338469842C1orf167,MTHFRc.3266T>C (p.Leu1089Pro)
c.3752T>C (p.Leu1251Pro)
c.*2729A>G (n.*2729A>G)
c.1902T>C
c.4823A>G (n.4823A>G)
c.3824T>C (p.Leu1275Pro)
c.1251T>C
c.1081T>C
n.683T>C
n.140T>C
c.3887T>C (p.Leu1296Pro)
c.3833T>C (p.Leu1278Pro)
c.3479T>C (p.Leu1160Pro)
c.2168T>C (p.Leu723Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.11787951T>GCA338469838C1orf167,MTHFRc.3266T>G (p.Leu1089Arg)
c.3752T>G (p.Leu1251Arg)
c.*2729A>C (n.*2729A>C)
c.1902T>G
c.4823A>C (n.4823A>C)
c.3824T>G (p.Leu1275Arg)
c.1251T>G
c.1081T>G
n.683T>G
n.140T>G
c.3887T>G (p.Leu1296Arg)
c.3833T>G (p.Leu1278Arg)
c.3479T>G (p.Leu1160Arg)
c.2168T>G (p.Leu723Arg)
1g.11787951T=CA1153786507C1orf167,MTHFRc.3266T= (p.Leu1089=)
c.3752T= (p.Leu1251=)
c.*2729A= (n.*2729A=)
c.1902T=
c.4823A= (n.4823A=)
c.3824T= (p.Leu1275=)
c.1251T=
c.1081T=
n.683T=
n.140T=
c.3887T= (p.Leu1296=)
c.3833T= (p.Leu1278=)
c.3479T= (p.Leu1160=)
c.2168T= (p.Leu723=)
1g.11787952G>ACA416361938C1orf167,MTHFRc.3267G>A (p.Leu1089=)
c.3753G>A (p.Leu1251=)
c.*2728C>T (n.*2728C>T)
c.1903G>A
c.4822C>T (n.4822C>T)
c.3825G>A (p.Leu1275=)
c.1252G>A
c.1082G>A
n.684G>A
n.141G>A
c.3888G>A (p.Leu1296=)
c.3834G>A (p.Leu1278=)
c.3480G>A (p.Leu1160=)
c.2169G>A (p.Leu723=)
1g.11787952G>CCA416361940C1orf167,MTHFRc.3267G>C (p.Leu1089=)
c.3753G>C (p.Leu1251=)
c.*2728C>G (n.*2728C>G)
c.1903G>C
c.4822C>G (n.4822C>G)
c.3825G>C (p.Leu1275=)
c.1252G>C
c.1082G>C
n.684G>C
n.141G>C
c.3888G>C (p.Leu1296=)
c.3834G>C (p.Leu1278=)
c.3480G>C (p.Leu1160=)
c.2169G>C (p.Leu723=)
1g.11787952G=CA1153786509C1orf167,MTHFRc.3267G= (p.Leu1089=)
c.3753G= (p.Leu1251=)
c.*2728C= (n.*2728C=)
c.1903G=
c.4822C= (n.4822C=)
c.3825G= (p.Leu1275=)
c.1252G=
c.1082G=
n.684G=
n.141G=
c.3888G= (p.Leu1296=)
c.3834G= (p.Leu1278=)
c.3480G= (p.Leu1160=)
c.2169G= (p.Leu723=)
1g.11787952G>TCA416361941C1orf167,MTHFRc.3267G>T (p.Leu1089=)
c.3753G>T (p.Leu1251=)
c.*2728C>A (n.*2728C>A)
c.1903G>T
c.4822C>A (n.4822C>A)
c.3825G>T (p.Leu1275=)
c.1252G>T
c.1082G>T
n.684G>T
n.141G>T
c.3888G>T (p.Leu1296=)
c.3834G>T (p.Leu1278=)
c.3480G>T (p.Leu1160=)
c.2169G>T (p.Leu723=)
1g.11787953C>ACA338469844C1orf167,MTHFRc.3268C>A (p.Pro1090Thr)
c.3754C>A (p.Pro1252Thr)
c.*2727G>T (n.*2727G>T)
c.1904C>A
c.4821G>T (n.4821G>T)
c.3826C>A (p.Pro1276Thr)
c.1253C>A
c.1083C>A
n.685C>A
n.142C>A
c.3889C>A (p.Pro1297Thr)
c.3835C>A (p.Pro1279Thr)
c.3481C>A (p.Pro1161Thr)
c.2170C>A (p.Pro724Thr)
 gnomAD v4
1g.11787953C=CA1153786513C1orf167,MTHFRc.3268C= (p.Pro1090=)
c.3754C= (p.Pro1252=)
c.*2727G= (n.*2727G=)
c.1904C=
c.4821G= (n.4821G=)
c.3826C= (p.Pro1276=)
c.1253C=
c.1083C=
n.685C=
n.142C=
c.3889C= (p.Pro1297=)
c.3835C= (p.Pro1279=)
c.3481C= (p.Pro1161=)
c.2170C= (p.Pro724=)
1g.11787953C>GCA338469845C1orf167,MTHFRc.3268C>G (p.Pro1090Ala)
c.3754C>G (p.Pro1252Ala)
c.*2727G>C (n.*2727G>C)
c.1904C>G
c.4821G>C (n.4821G>C)
c.3826C>G (p.Pro1276Ala)
c.1253C>G
c.1083C>G
n.685C>G
n.142C>G
c.3889C>G (p.Pro1297Ala)
c.3835C>G (p.Pro1279Ala)
c.3481C>G (p.Pro1161Ala)
c.2170C>G (p.Pro724Ala)
1g.11787953C>TCA338469846C1orf167,MTHFRc.3268C>T (p.Pro1090Ser)
c.3754C>T (p.Pro1252Ser)
c.*2727G>A (n.*2727G>A)
c.1904C>T
c.4821G>A (n.4821G>A)
c.3826C>T (p.Pro1276Ser)
c.1253C>T
c.1083C>T
n.685C>T
n.142C>T
c.3889C>T (p.Pro1297Ser)
c.3835C>T (p.Pro1279Ser)
c.3481C>T (p.Pro1161Ser)
c.2170C>T (p.Pro724Ser)
 dbSNP gnomAD v4
1g.11787953_11787956delinsCCCCCA1140552194C1orf167,MTHFRc.3268_3271delinsCCCC (p.Pro1090=)
c.3754_3757delinsCCCC (p.Pro1252=)
c.*2724_*2727delinsGGGG (n.*2724_*2727delinsGGGG)
c.1904_1907delinsCCCC
c.4818_4821delinsGGGG (n.4818_4821delinsGGGG)
c.3826_3829delinsCCCC (p.Pro1276=)
c.1253_1256delinsCCCC
c.1083_1086delinsCCCC
n.142_145delinsCCCC
c.3889_3892delinsCCCC (p.Pro1297=)
c.3835_3838delinsCCCC (p.Pro1279=)
c.3481_3484delinsCCCC (p.Pro1161=)
c.2170_2173delinsCCCC (p.Pro724=)
1g.11787956dupCA17995986C1orf167,MTHFRc.3271dup (p.Leu1091ProfsTer15)
c.3757dup (p.Leu1253ProfsTer15)
c.*2727dup (n.*2727dup)
c.1907dup
c.4821dup (n.4821dup)
c.3829dup (p.Leu1277ProfsTer15)
c.1256dup
c.1086dup
n.145dup
c.3892dup (p.Leu1298ProfsTer15)
c.3838dup (p.Leu1280ProfsTer15)
c.3484dup (p.Leu1162ProfsTer15)
c.2173dup (p.Leu725ProfsTer15)
 dbSNP
1g.11787954C>ACA338469847C1orf167,MTHFRc.3269C>A (p.Pro1090His)
c.3755C>A (p.Pro1252His)
c.*2726G>T (n.*2726G>T)
c.1905C>A
c.4820G>T (n.4820G>T)
c.3827C>A (p.Pro1276His)
c.1254C>A
c.1084C>A
n.686C>A
n.143C>A
c.3890C>A (p.Pro1297His)
c.3836C>A (p.Pro1279His)
c.3482C>A (p.Pro1161His)
c.2171C>A (p.Pro724His)
 gnomAD v4
1g.11787954C>GCA338469848C1orf167,MTHFRc.3269C>G (p.Pro1090Arg)
c.3755C>G (p.Pro1252Arg)
c.*2726G>C (n.*2726G>C)
c.1905C>G
c.4820G>C (n.4820G>C)
c.3827C>G (p.Pro1276Arg)
c.1254C>G
c.1084C>G
n.686C>G
n.143C>G
c.3890C>G (p.Pro1297Arg)
c.3836C>G (p.Pro1279Arg)
c.3482C>G (p.Pro1161Arg)
c.2171C>G (p.Pro724Arg)
1g.11787954C>TCA338469849C1orf167,MTHFRc.3269C>T (p.Pro1090Leu)
c.3755C>T (p.Pro1252Leu)
c.*2726G>A (n.*2726G>A)
c.1905C>T
c.4820G>A (n.4820G>A)
c.3827C>T (p.Pro1276Leu)
c.1254C>T
c.1084C>T
n.686C>T
n.143C>T
c.3890C>T (p.Pro1297Leu)
c.3836C>T (p.Pro1279Leu)
c.3482C>T (p.Pro1161Leu)
c.2171C>T (p.Pro724Leu)
1g.11787955C>ACA416361944C1orf167,MTHFRc.3270C>A (p.Pro1090=)
c.3756C>A (p.Pro1252=)
c.*2725G>T (n.*2725G>T)
c.1906C>A
c.4819G>T (n.4819G>T)
c.3828C>A (p.Pro1276=)
c.1255C>A
c.1085C>A
n.687C>A
n.144C>A
c.3891C>A (p.Pro1297=)
c.3837C>A (p.Pro1279=)
c.3483C>A (p.Pro1161=)
c.2172C>A (p.Pro724=)
1g.11787955C>GCA416361946C1orf167,MTHFRc.3270C>G (p.Pro1090=)
c.3756C>G (p.Pro1252=)
c.*2725G>C (n.*2725G>C)
c.1906C>G
c.4819G>C (n.4819G>C)
c.3828C>G (p.Pro1276=)
c.1255C>G
c.1085C>G
n.687C>G
n.144C>G
c.3891C>G (p.Pro1297=)
c.3837C>G (p.Pro1279=)
c.3483C>G (p.Pro1161=)
c.2172C>G (p.Pro724=)
1g.11787955C>TCA416361949C1orf167,MTHFRc.3270C>T (p.Pro1090=)
c.3756C>T (p.Pro1252=)
c.*2725G>A (n.*2725G>A)
c.1906C>T
c.4819G>A (n.4819G>A)
c.3828C>T (p.Pro1276=)
c.1255C>T
c.1085C>T
n.687C>T
n.144C>T
c.3891C>T (p.Pro1297=)
c.3837C>T (p.Pro1279=)
c.3483C>T (p.Pro1161=)
c.2172C>T (p.Pro724=)
1g.11787956C>ACA338469850C1orf167,MTHFRc.3271C>A (p.Leu1091Met)
c.3757C>A (p.Leu1253Met)
c.*2724G>T (n.*2724G>T)
c.1907C>A
c.4818G>T (n.4818G>T)
c.3829C>A (p.Leu1277Met)
c.1256C>A
c.1086C>A
n.145C>A
c.3892C>A (p.Leu1298Met)
c.3838C>A (p.Leu1280Met)
c.3484C>A (p.Leu1162Met)
c.2173C>A (p.Leu725Met)
 gnomAD v4
1g.11787956C>GCA338469851C1orf167,MTHFRc.3271C>G (p.Leu1091Val)
c.3757C>G (p.Leu1253Val)
c.*2724G>C (n.*2724G>C)
c.1907C>G
c.4818G>C (n.4818G>C)
c.3829C>G (p.Leu1277Val)
c.1256C>G
c.1086C>G
n.145C>G
c.3892C>G (p.Leu1298Val)
c.3838C>G (p.Leu1280Val)
c.3484C>G (p.Leu1162Val)
c.2173C>G (p.Leu725Val)
1g.11787956C>TCA416361950C1orf167,MTHFRc.3271C>T (p.Leu1091=)
c.3757C>T (p.Leu1253=)
c.*2724G>A (n.*2724G>A)
c.1907C>T
c.4818G>A (n.4818G>A)
c.3829C>T (p.Leu1277=)
c.1256C>T
c.1086C>T
n.145C>T
c.3892C>T (p.Leu1298=)
c.3838C>T (p.Leu1280=)
c.3484C>T (p.Leu1162=)
c.2173C>T (p.Leu725=)
1g.11787957T>ACA338469852C1orf167,MTHFRc.3272T>A (p.Leu1091Gln)
c.3758T>A (p.Leu1253Gln)
c.*2723A>T (n.*2723A>T)
c.1908T>A
c.4817A>T (n.4817A>T)
c.3830T>A (p.Leu1277Gln)
c.1257T>A
c.1087T>A
n.146T>A
c.3893T>A (p.Leu1298Gln)
c.3839T>A (p.Leu1280Gln)
c.3485T>A (p.Leu1162Gln)
c.2174T>A (p.Leu725Gln)
 gnomAD v4
1g.11787957T>CCA338469853C1orf167,MTHFRc.3272T>C (p.Leu1091Pro)
c.3758T>C (p.Leu1253Pro)
c.*2723A>G (n.*2723A>G)
c.1908T>C
c.4817A>G (n.4817A>G)
c.3830T>C (p.Leu1277Pro)
c.1257T>C
c.1087T>C
n.146T>C
c.3893T>C (p.Leu1298Pro)
c.3839T>C (p.Leu1280Pro)
c.3485T>C (p.Leu1162Pro)
c.2174T>C (p.Leu725Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.11787957T>GCA338469854C1orf167,MTHFRc.3272T>G (p.Leu1091Arg)
c.3758T>G (p.Leu1253Arg)
c.*2723A>C (n.*2723A>C)
c.1908T>G
c.4817A>C (n.4817A>C)
c.3830T>G (p.Leu1277Arg)
c.1257T>G
c.1087T>G
n.146T>G
c.3893T>G (p.Leu1298Arg)
c.3839T>G (p.Leu1280Arg)
c.3485T>G (p.Leu1162Arg)
c.2174T>G (p.Leu725Arg)
1g.11787957T=CA1153786517C1orf167,MTHFRc.3272T= (p.Leu1091=)
c.3758T= (p.Leu1253=)
c.*2723A= (n.*2723A=)
c.1908T=
c.4817A= (n.4817A=)
c.3830T= (p.Leu1277=)
c.1257T=
c.1087T=
n.146T=
c.3893T= (p.Leu1298=)
c.3839T= (p.Leu1280=)
c.3485T= (p.Leu1162=)
c.2174T= (p.Leu725=)
1g.11787958G>ACA416361951C1orf167,MTHFRc.3273G>A (p.Leu1091=)
c.3759G>A (p.Leu1253=)
c.*2722C>T (n.*2722C>T)
c.1909G>A
c.4816C>T (n.4816C>T)
c.3831G>A (p.Leu1277=)
c.1258G>A
c.1088G>A
n.147G>A
c.3894G>A (p.Leu1298=)
c.3840G>A (p.Leu1280=)
c.3486G>A (p.Leu1162=)
c.2175G>A (p.Leu725=)
1g.11787958G>CCA416361952C1orf167,MTHFRc.3273G>C (p.Leu1091=)
c.3759G>C (p.Leu1253=)
c.*2722C>G (n.*2722C>G)
c.1909G>C
c.4816C>G (n.4816C>G)
c.3831G>C (p.Leu1277=)
c.1258G>C
c.1088G>C
n.147G>C
c.3894G>C (p.Leu1298=)
c.3840G>C (p.Leu1280=)
c.3486G>C (p.Leu1162=)
c.2175G>C (p.Leu725=)
1g.11787958G>TCA416361954C1orf167,MTHFRc.3273G>T (p.Leu1091=)
c.3759G>T (p.Leu1253=)
c.*2722C>A (n.*2722C>A)
c.1909G>T
c.4816C>A (n.4816C>A)
c.3831G>T (p.Leu1277=)
c.1258G>T
c.1088G>T
n.147G>T
c.3894G>T (p.Leu1298=)
c.3840G>T (p.Leu1280=)
c.3486G>T (p.Leu1162=)
c.2175G>T (p.Leu725=)
1g.11787959T>ACA338469856C1orf167,MTHFRc.3274T>A (p.Trp1092Arg)
c.3760T>A (p.Trp1254Arg)
c.*2721A>T (n.*2721A>T)
c.1910T>A
c.4815A>T (n.4815A>T)
c.3832T>A (p.Trp1278Arg)
c.1259T>A
c.1089T>A
n.148T>A
c.3895T>A (p.Trp1299Arg)
c.3841T>A (p.Trp1281Arg)
c.3487T>A (p.Trp1163Arg)
c.2176T>A (p.Trp726Arg)
1g.11787959T>CCA338469857C1orf167,MTHFRc.3274T>C (p.Trp1092Arg)
c.3760T>C (p.Trp1254Arg)
c.*2721A>G (n.*2721A>G)
c.1910T>C
c.4815A>G (n.4815A>G)
c.3832T>C (p.Trp1278Arg)
c.1259T>C
c.1089T>C
n.148T>C
c.3895T>C (p.Trp1299Arg)
c.3841T>C (p.Trp1281Arg)
c.3487T>C (p.Trp1163Arg)
c.2176T>C (p.Trp726Arg)
1g.11787959T>GCA338469855C1orf167,MTHFRc.3274T>G (p.Trp1092Gly)
c.3760T>G (p.Trp1254Gly)
c.*2721A>C (n.*2721A>C)
c.1910T>G
c.4815A>C (n.4815A>C)
c.3832T>G (p.Trp1278Gly)
c.1259T>G
c.1089T>G
n.148T>G
c.3895T>G (p.Trp1299Gly)
c.3841T>G (p.Trp1281Gly)
c.3487T>G (p.Trp1163Gly)
c.2176T>G (p.Trp726Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.11787959T=CA1153786520C1orf167,MTHFRc.3274T= (p.Trp1092=)
c.3760T= (p.Trp1254=)
c.*2721A= (n.*2721A=)
c.1910T=
c.4815A= (n.4815A=)
c.3832T= (p.Trp1278=)
c.1259T=
c.1089T=
n.148T=
c.3895T= (p.Trp1299=)
c.3841T= (p.Trp1281=)
c.3487T= (p.Trp1163=)
c.2176T= (p.Trp726=)
1g.11787960G>ACA338469858C1orf167,MTHFRc.3275G>A (p.Trp1092Ter)
c.3761G>A (p.Trp1254Ter)
c.*2720C>T (n.*2720C>T)
c.1911G>A
c.4814C>T (n.4814C>T)
c.3833G>A (p.Trp1278Ter)
c.1260G>A
c.1090G>A
n.149G>A
c.3896G>A (p.Trp1299Ter)
c.3842G>A (p.Trp1281Ter)
c.3488G>A (p.Trp1163Ter)
c.2177G>A (p.Trp726Ter)
1g.11787960G>CCA338469859C1orf167,MTHFRc.3275G>C (p.Trp1092Ser)
c.3761G>C (p.Trp1254Ser)
c.*2720C>G (n.*2720C>G)
c.1911G>C
c.4814C>G (n.4814C>G)
c.3833G>C (p.Trp1278Ser)
c.1260G>C
c.1090G>C
n.149G>C
c.3896G>C (p.Trp1299Ser)
c.3842G>C (p.Trp1281Ser)
c.3488G>C (p.Trp1163Ser)
c.2177G>C (p.Trp726Ser)
1g.11787960G>TCA338469860C1orf167,MTHFRc.3275G>T (p.Trp1092Leu)
c.3761G>T (p.Trp1254Leu)
c.*2720C>A (n.*2720C>A)
c.1911G>T
c.4814C>A (n.4814C>A)
c.3833G>T (p.Trp1278Leu)
c.1260G>T
c.1090G>T
n.149G>T
c.3896G>T (p.Trp1299Leu)
c.3842G>T (p.Trp1281Leu)
c.3488G>T (p.Trp1163Leu)
c.2177G>T (p.Trp726Leu)
1g.11787961G>ACA338469861C1orf167,MTHFRc.3276G>A (p.Trp1092Ter)
c.3762G>A (p.Trp1254Ter)
c.*2719C>T (n.*2719C>T)
c.1912G>A
c.4813C>T (n.4813C>T)
c.3834G>A (p.Trp1278Ter)
c.1261G>A
c.1091G>A
n.150G>A
c.3897G>A (p.Trp1299Ter)
c.3843G>A (p.Trp1281Ter)
c.3489G>A (p.Trp1163Ter)
c.2178G>A (p.Trp726Ter)
1g.11787961G>CCA338469862C1orf167,MTHFRc.3276G>C (p.Trp1092Cys)
c.3762G>C (p.Trp1254Cys)
c.*2719C>G (n.*2719C>G)
c.1912G>C
c.4813C>G (n.4813C>G)
c.3834G>C (p.Trp1278Cys)
c.1261G>C
c.1091G>C
n.150G>C
c.3897G>C (p.Trp1299Cys)
c.3843G>C (p.Trp1281Cys)
c.3489G>C (p.Trp1163Cys)
c.2178G>C (p.Trp726Cys)
1g.11787961G>TCA338469863C1orf167,MTHFRc.3276G>T (p.Trp1092Cys)
c.3762G>T (p.Trp1254Cys)
c.*2719C>A (n.*2719C>A)
c.1912G>T
c.4813C>A (n.4813C>A)
c.3834G>T (p.Trp1278Cys)
c.1261G>T
c.1091G>T
n.150G>T
c.3897G>T (p.Trp1299Cys)
c.3843G>T (p.Trp1281Cys)
c.3489G>T (p.Trp1163Cys)
c.2178G>T (p.Trp726Cys)
1g.11787962A=CA1153786522C1orf167,MTHFRc.3277A= (p.Thr1093=)
c.3763A= (p.Thr1255=)
c.*2718T= (n.*2718T=)
c.1913A=
c.4812T= (n.4812T=)
c.3835A= (p.Thr1279=)
c.1262A=
c.1092A=
n.151A=
c.3898A= (p.Thr1300=)
c.3844A= (p.Thr1282=)
c.3490A= (p.Thr1164=)
c.2179A= (p.Thr727=)
1g.11787962A>CCA338469866C1orf167,MTHFRc.3277A>C (p.Thr1093Pro)
c.3763A>C (p.Thr1255Pro)
c.*2718T>G (n.*2718T>G)
c.1913A>C
c.4812T>G (n.4812T>G)
c.3835A>C (p.Thr1279Pro)
c.1262A>C
c.1092A>C
n.151A>C
c.3898A>C (p.Thr1300Pro)
c.3844A>C (p.Thr1282Pro)
c.3490A>C (p.Thr1164Pro)
c.2179A>C (p.Thr727Pro)
1g.11787962A>GCA338469864C1orf167,MTHFRc.3277A>G (p.Thr1093Ala)
c.3763A>G (p.Thr1255Ala)
c.*2718T>C (n.*2718T>C)
c.1913A>G
c.4812T>C (n.4812T>C)
c.3835A>G (p.Thr1279Ala)
c.1262A>G
c.1092A>G
n.151A>G
c.3898A>G (p.Thr1300Ala)
c.3844A>G (p.Thr1282Ala)
c.3490A>G (p.Thr1164Ala)
c.2179A>G (p.Thr727Ala)
 dbSNP
1g.11787962A>TCA338469865C1orf167,MTHFRc.3277A>T (p.Thr1093Ser)
c.3763A>T (p.Thr1255Ser)
c.*2718T>A (n.*2718T>A)
c.1913A>T
c.4812T>A (n.4812T>A)
c.3835A>T (p.Thr1279Ser)
c.1262A>T
c.1092A>T
n.151A>T
c.3898A>T (p.Thr1300Ser)
c.3844A>T (p.Thr1282Ser)
c.3490A>T (p.Thr1164Ser)
c.2179A>T (p.Thr727Ser)
 gnomAD v4
1g.11787963C>ACA338469867C1orf167,MTHFRc.3278C>A (p.Thr1093Lys)
c.3764C>A (p.Thr1255Lys)
c.*2717G>T (n.*2717G>T)
c.1914C>A
c.4811G>T (n.4811G>T)
c.3836C>A (p.Thr1279Lys)
c.1263C>A
c.1093C>A
n.152C>A
c.3899C>A (p.Thr1300Lys)
c.3845C>A (p.Thr1282Lys)
c.3491C>A (p.Thr1164Lys)
c.2180C>A (p.Thr727Lys)
1g.11787963C=CA1153786524C1orf167,MTHFRc.3278C= (p.Thr1093=)
c.3764C= (p.Thr1255=)
c.*2717G= (n.*2717G=)
c.1914C=
c.4811G= (n.4811G=)
c.3836C= (p.Thr1279=)
c.1263C=
c.1093C=
n.152C=
c.3899C= (p.Thr1300=)
c.3845C= (p.Thr1282=)
c.3491C= (p.Thr1164=)
c.2180C= (p.Thr727=)
1g.11787963C>GCA338469868C1orf167,MTHFRc.3278C>G (p.Thr1093Arg)
c.3764C>G (p.Thr1255Arg)
c.*2717G>C (n.*2717G>C)
c.1914C>G
c.4811G>C (n.4811G>C)
c.3836C>G (p.Thr1279Arg)
c.1263C>G
c.1093C>G
n.152C>G
c.3899C>G (p.Thr1300Arg)
c.3845C>G (p.Thr1282Arg)
c.3491C>G (p.Thr1164Arg)
c.2180C>G (p.Thr727Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11787963C>TCA17995998C1orf167,MTHFRc.3278C>T (p.Thr1093Met)
c.3764C>T (p.Thr1255Met)
c.*2717G>A (n.*2717G>A)
c.1914C>T
c.4811G>A (n.4811G>A)
c.3836C>T (p.Thr1279Met)
c.1263C>T
c.1093C>T
n.152C>T
c.3899C>T (p.Thr1300Met)
c.3845C>T (p.Thr1282Met)
c.3491C>T (p.Thr1164Met)
c.2180C>T (p.Thr727Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11787964G>ACA17996004C1orf167,MTHFRc.3279G>A (p.Thr1093=)
c.3765G>A (p.Thr1255=)
c.*2716C>T (n.*2716C>T)
c.1915G>A
c.4810C>T (n.4810C>T)
c.3837G>A (p.Thr1279=)
c.1264G>A
c.1094G>A
n.153G>A
c.3900G>A (p.Thr1300=)
c.3846G>A (p.Thr1282=)
c.3492G>A (p.Thr1164=)
c.2181G>A (p.Thr727=)
 dbSNP gnomAD v2 gnomAD v4
1g.11787964G>CCA416361969C1orf167,MTHFRc.3279G>C (p.Thr1093=)
c.3765G>C (p.Thr1255=)
c.*2716C>G (n.*2716C>G)
c.1915G>C
c.4810C>G (n.4810C>G)
c.3837G>C (p.Thr1279=)
c.1264G>C
c.1094G>C
n.153G>C
c.3900G>C (p.Thr1300=)
c.3846G>C (p.Thr1282=)
c.3492G>C (p.Thr1164=)
c.2181G>C (p.Thr727=)
1g.11787964G=CA1153786527C1orf167,MTHFRc.3279G= (p.Thr1093=)
c.3765G= (p.Thr1255=)
c.*2716C= (n.*2716C=)
c.1915G=
c.4810C= (n.4810C=)
c.3837G= (p.Thr1279=)
c.1264G=
c.1094G=
n.153G=
c.3900G= (p.Thr1300=)
c.3846G= (p.Thr1282=)
c.3492G= (p.Thr1164=)
c.2181G= (p.Thr727=)
1g.11787964G>TCA416361967C1orf167,MTHFRc.3279G>T (p.Thr1093=)
c.3765G>T (p.Thr1255=)
c.*2716C>A (n.*2716C>A)
c.1915G>T
c.4810C>A (n.4810C>A)
c.3837G>T (p.Thr1279=)
c.1264G>T
c.1094G>T
n.153G>T
c.3900G>T (p.Thr1300=)
c.3846G>T (p.Thr1282=)
c.3492G>T (p.Thr1164=)
c.2181G>T (p.Thr727=)
 gnomAD v4
1g.11787964_11787971delinsGAGGGACCCA1153786529C1orf167,MTHFRc.3279_3286delinsGAGGGACC (p.Thr1093=)
c.3765_3772delinsGAGGGACC (p.Thr1255=)
c.*2709_*2716delinsGGTCCCTC (n.*2709_*2716delinsGGTCCCTC)
c.1915_1922delinsGAGGGACC
c.4803_4810delinsGGTCCCTC (n.4803_4810delinsGGTCCCTC)
c.3837_3844delinsGAGGGACC (p.Thr1279=)
c.1264_1271delinsGAGGGACC
c.1094_1101delinsGAGGGACC
n.153_160delinsGAGGGACC
c.3900_3907delinsGAGGGACC (p.Thr1300=)
c.3846_3853delinsGAGGGACC (p.Thr1282=)
c.3492_3499delinsGAGGGACC (p.Thr1164=)
c.2181_2188delinsGAGGGACC (p.Thr727=)
1g.11787965A>CCA416361972C1orf167,MTHFRc.3280A>C (p.Arg1094=)
c.3766A>C (p.Arg1256=)
c.*2715T>G (n.*2715T>G)
c.1916A>C
c.4809T>G (n.4809T>G)
c.3838A>C (p.Arg1280=)
c.1265A>C
c.1095A>C
n.154A>C
c.3901A>C (p.Arg1301=)
c.3847A>C (p.Arg1283=)
c.3493A>C (p.Arg1165=)
c.2182A>C (p.Arg728=)
 gnomAD v4
1g.11787965A>GCA338469869C1orf167,MTHFRc.3280A>G (p.Arg1094Gly)
c.3766A>G (p.Arg1256Gly)
c.*2715T>C (n.*2715T>C)
c.1916A>G
c.4809T>C (n.4809T>C)
c.3838A>G (p.Arg1280Gly)
c.1265A>G
c.1095A>G
n.154A>G
c.3901A>G (p.Arg1301Gly)
c.3847A>G (p.Arg1283Gly)
c.3493A>G (p.Arg1165Gly)
c.2182A>G (p.Arg728Gly)
 gnomAD v4
1g.11787965A>TCA338469870C1orf167,MTHFRc.3280A>T (p.Arg1094Trp)
c.3766A>T (p.Arg1256Trp)
c.*2715T>A (n.*2715T>A)
c.1916A>T
c.4809T>A (n.4809T>A)
c.3838A>T (p.Arg1280Trp)
c.1265A>T
c.1095A>T
n.154A>T
c.3901A>T (p.Arg1301Trp)
c.3847A>T (p.Arg1283Trp)
c.3493A>T (p.Arg1165Trp)
c.2182A>T (p.Arg728Trp)
1g.11787965_11787966delinsAGCA1153786533C1orf167,MTHFRc.3280_3281delinsAG (p.Arg1094=)
c.3766_3767delinsAG (p.Arg1256=)
c.*2714_*2715delinsCT (n.*2714_*2715delinsCT)
c.1916_1917delinsAG
c.4808_4809delinsCT (n.4808_4809delinsCT)
c.3838_3839delinsAG (p.Arg1280=)
c.1265_1266delinsAG
c.1095_1096delinsAG
n.154_155delinsAG
c.3901_3902delinsAG (p.Arg1301=)
c.3847_3848delinsAG (p.Arg1283=)
c.3493_3494delinsAG (p.Arg1165=)
c.2182_2183delinsAG (p.Arg728=)
1g.11787973_11787979dupCA2643295269C1orf167,MTHFRc.3288_3294dup (p.Arg1099GlyfsTer9)
c.3774_3780dup (p.Arg1261GlyfsTer9)
c.*2709_*2715dup (n.*2709_*2715dup)
c.1924_1930dup
c.4803_4809dup (n.4803_4809dup)
c.3846_3852dup (p.Arg1285GlyfsTer9)
c.1273_1279dup
c.1103_1109dup
n.162_168dup
c.3909_3915dup (p.Arg1306GlyfsTer9)
c.3855_3861dup (p.Arg1288GlyfsTer9)
c.3501_3507dup (p.Arg1170GlyfsTer9)
c.2190_2196dup (p.Arg733GlyfsTer9)
 gnomAD v4
1g.11787973_11787979delCA1153786532C1orf167,MTHFRc.3288_3294del (p.Gly1097GlufsTer?)
c.3774_3780del (p.Gly1259GlufsTer?)
c.*2709_*2715del (n.*2709_*2715del)
c.1924_1930del
c.4803_4809del (n.4803_4809del)
c.3846_3852del (p.Gly1283GlufsTer?)
c.1273_1279del
c.1103_1109del
n.162_168del
c.3909_3915del (p.Gly1304GlufsTer?)
c.3855_3861del (p.Gly1286GlufsTer?)
c.3501_3507del (p.Gly1168GlufsTer?)
c.2190_2196del (p.Gly731GlufsTer?)
 dbSNP gnomAD v4
1g.11787966G>ACA338469871C1orf167,MTHFRc.3281G>A (p.Arg1094Lys)
c.3767G>A (p.Arg1256Lys)
c.*2714C>T (n.*2714C>T)
c.1917G>A
c.4808C>T (n.4808C>T)
c.3839G>A (p.Arg1280Lys)
c.1266G>A
c.1096G>A
n.155G>A
c.3902G>A (p.Arg1301Lys)
c.3848G>A (p.Arg1283Lys)
c.3494G>A (p.Arg1165Lys)
c.2183G>A (p.Arg728Lys)
 gnomAD v4
1g.11787966G>CCA338469873C1orf167,MTHFRc.3281G>C (p.Arg1094Thr)
c.3767G>C (p.Arg1256Thr)
c.*2714C>G (n.*2714C>G)
c.1917G>C
c.4808C>G (n.4808C>G)
c.3839G>C (p.Arg1280Thr)
c.1266G>C
c.1096G>C
n.155G>C
c.3902G>C (p.Arg1301Thr)
c.3848G>C (p.Arg1283Thr)
c.3494G>C (p.Arg1165Thr)
c.2183G>C (p.Arg728Thr)
1g.11787966G>TCA338469872C1orf167,MTHFRc.3281G>T (p.Arg1094Met)
c.3767G>T (p.Arg1256Met)
c.*2714C>A (n.*2714C>A)
c.1917G>T
c.4808C>A (n.4808C>A)
c.3839G>T (p.Arg1280Met)
c.1266G>T
c.1096G>T
n.155G>T
c.3902G>T (p.Arg1301Met)
c.3848G>T (p.Arg1283Met)
c.3494G>T (p.Arg1165Met)
c.2183G>T (p.Arg728Met)
1g.11787968delCA886036231C1orf167,MTHFRc.3283del (p.Asp1095ThrfsTer?)
c.3769del (p.Asp1257ThrfsTer?)
c.*2714del (n.*2714del)
c.1919del
c.4808del (n.4808del)
c.3841del (p.Asp1281ThrfsTer?)
c.1268del
c.1098del
n.157del
c.3904del (p.Asp1302ThrfsTer?)
c.3850del (p.Asp1284ThrfsTer?)
c.3496del (p.Asp1166ThrfsTer?)
c.2185del (p.Asp729ThrfsTer?)
 dbSNP gnomAD v4
1g.11787967G>ACA416361974C1orf167,MTHFRc.3282G>A (p.Arg1094=)
c.3768G>A (p.Arg1256=)
c.*2713C>T (n.*2713C>T)
c.1918G>A
c.4807C>T (n.4807C>T)
c.3840G>A (p.Arg1280=)
c.1267G>A
c.1097G>A
n.156G>A
c.3903G>A (p.Arg1301=)
c.3849G>A (p.Arg1283=)
c.3495G>A (p.Arg1165=)
c.2184G>A (p.Arg728=)
 gnomAD v4
1g.11787967G>CCA338469874C1orf167,MTHFRc.3282G>C (p.Arg1094Ser)
c.3768G>C (p.Arg1256Ser)
c.*2713C>G (n.*2713C>G)
c.1918G>C
c.4807C>G (n.4807C>G)
c.3840G>C (p.Arg1280Ser)
c.1267G>C
c.1097G>C
n.156G>C
c.3903G>C (p.Arg1301Ser)
c.3849G>C (p.Arg1283Ser)
c.3495G>C (p.Arg1165Ser)
c.2184G>C (p.Arg728Ser)
1g.11787967G>TCA338469875C1orf167,MTHFRc.3282G>T (p.Arg1094Ser)
c.3768G>T (p.Arg1256Ser)
c.*2713C>A (n.*2713C>A)
c.1918G>T
c.4807C>A (n.4807C>A)
c.3840G>T (p.Arg1280Ser)
c.1267G>T
c.1097G>T
n.156G>T
c.3903G>T (p.Arg1301Ser)
c.3849G>T (p.Arg1283Ser)
c.3495G>T (p.Arg1165Ser)
c.2184G>T (p.Arg728Ser)
1g.11787968G>ACA338469876C1orf167,MTHFRc.3283G>A (p.Asp1095Asn)
c.3769G>A (p.Asp1257Asn)
c.*2712C>T (n.*2712C>T)
c.1919G>A
c.4806C>T (n.4806C>T)
c.3841G>A (p.Asp1281Asn)
c.1268G>A
c.1098G>A
n.157G>A
c.3904G>A (p.Asp1302Asn)
c.3850G>A (p.Asp1284Asn)
c.3496G>A (p.Asp1166Asn)
c.2185G>A (p.Asp729Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.11787968G>CCA338469878C1orf167,MTHFRc.3283G>C (p.Asp1095His)
c.3769G>C (p.Asp1257His)
c.*2712C>G (n.*2712C>G)
c.1919G>C
c.4806C>G (n.4806C>G)
c.3841G>C (p.Asp1281His)
c.1268G>C
c.1098G>C
n.157G>C
c.3904G>C (p.Asp1302His)
c.3850G>C (p.Asp1284His)
c.3496G>C (p.Asp1166His)
c.2185G>C (p.Asp729His)
1g.11787968G=CA1153786538C1orf167,MTHFRc.3283G= (p.Asp1095=)
c.3769G= (p.Asp1257=)
c.*2712C= (n.*2712C=)
c.1919G=
c.4806C= (n.4806C=)
c.3841G= (p.Asp1281=)
c.1268G=
c.1098G=
n.157G=
c.3904G= (p.Asp1302=)
c.3850G= (p.Asp1284=)
c.3496G= (p.Asp1166=)
c.2185G= (p.Asp729=)
1g.11787968G>TCA338469877C1orf167,MTHFRc.3283G>T (p.Asp1095Tyr)
c.3769G>T (p.Asp1257Tyr)
c.*2712C>A (n.*2712C>A)
c.1919G>T
c.4806C>A (n.4806C>A)
c.3841G>T (p.Asp1281Tyr)
c.1268G>T
c.1098G>T
n.157G>T
c.3904G>T (p.Asp1302Tyr)
c.3850G>T (p.Asp1284Tyr)
c.3496G>T (p.Asp1166Tyr)
c.2185G>T (p.Asp729Tyr)
 gnomAD v4
1g.11787969A>CCA338469879C1orf167,MTHFRc.3284A>C (p.Asp1095Ala)
c.3770A>C (p.Asp1257Ala)
c.*2711T>G (n.*2711T>G)
c.1920A>C
c.4805T>G (n.4805T>G)
c.3842A>C (p.Asp1281Ala)
c.1269A>C
c.1099A>C
n.158A>C
c.3905A>C (p.Asp1302Ala)
c.3851A>C (p.Asp1284Ala)
c.3497A>C (p.Asp1166Ala)
c.2186A>C (p.Asp729Ala)
1g.11787969A>GCA338469881C1orf167,MTHFRc.3284A>G (p.Asp1095Gly)
c.3770A>G (p.Asp1257Gly)
c.*2711T>C (n.*2711T>C)
c.1920A>G
c.4805T>C (n.4805T>C)
c.3842A>G (p.Asp1281Gly)
c.1269A>G
c.1099A>G
n.158A>G
c.3905A>G (p.Asp1302Gly)
c.3851A>G (p.Asp1284Gly)
c.3497A>G (p.Asp1166Gly)
c.2186A>G (p.Asp729Gly)
1g.11787969A>TCA338469880C1orf167,MTHFRc.3284A>T (p.Asp1095Val)
c.3770A>T (p.Asp1257Val)
c.*2711T>A (n.*2711T>A)
c.1920A>T
c.4805T>A (n.4805T>A)
c.3842A>T (p.Asp1281Val)
c.1269A>T
c.1099A>T
n.158A>T
c.3905A>T (p.Asp1302Val)
c.3851A>T (p.Asp1284Val)
c.3497A>T (p.Asp1166Val)
c.2186A>T (p.Asp729Val)
1g.11787970C>ACA338469882C1orf167,MTHFRc.3285C>A (p.Asp1095Glu)
c.3771C>A (p.Asp1257Glu)
c.*2710G>T (n.*2710G>T)
c.1921C>A
c.4804G>T (n.4804G>T)
c.3843C>A (p.Asp1281Glu)
c.1270C>A
c.1100C>A
n.159C>A
c.3906C>A (p.Asp1302Glu)
c.3852C>A (p.Asp1284Glu)
c.3498C>A (p.Asp1166Glu)
c.2187C>A (p.Asp729Glu)
1g.11787970C>GCA338469883C1orf167,MTHFRc.3285C>G (p.Asp1095Glu)
c.3771C>G (p.Asp1257Glu)
c.*2710G>C (n.*2710G>C)
c.1921C>G
c.4804G>C (n.4804G>C)
c.3843C>G (p.Asp1281Glu)
c.1270C>G
c.1100C>G
n.159C>G
c.3906C>G (p.Asp1302Glu)
c.3852C>G (p.Asp1284Glu)
c.3498C>G (p.Asp1166Glu)
c.2187C>G (p.Asp729Glu)
1g.11787970C>TCA416361978C1orf167,MTHFRc.3285C>T (p.Asp1095=)
c.3771C>T (p.Asp1257=)
c.*2710G>A (n.*2710G>A)
c.1921C>T
c.4804G>A (n.4804G>A)
c.3843C>T (p.Asp1281=)
c.1270C>T
c.1100C>T
n.159C>T
c.3906C>T (p.Asp1302=)
c.3852C>T (p.Asp1284=)
c.3498C>T (p.Asp1166=)
c.2187C>T (p.Asp729=)
1g.11787971C>ACA338469884C1orf167,MTHFRc.3286C>A (p.Gln1096Lys)
c.3772C>A (p.Gln1258Lys)
c.*2709G>T (n.*2709G>T)
c.1922C>A
c.4803G>T (n.4803G>T)
c.3844C>A (p.Gln1282Lys)
c.1271C>A
c.1101C>A
n.160C>A
c.3907C>A (p.Gln1303Lys)
c.3853C>A (p.Gln1285Lys)
c.3499C>A (p.Gln1167Lys)
c.2188C>A (p.Gln730Lys)
1g.11787971C>GCA338469885C1orf167,MTHFRc.3286C>G (p.Gln1096Glu)
c.3772C>G (p.Gln1258Glu)
c.*2709G>C (n.*2709G>C)
c.1922C>G
c.4803G>C (n.4803G>C)
c.3844C>G (p.Gln1282Glu)
c.1271C>G
c.1101C>G
n.160C>G
c.3907C>G (p.Gln1303Glu)
c.3853C>G (p.Gln1285Glu)
c.3499C>G (p.Gln1167Glu)
c.2188C>G (p.Gln730Glu)
1g.11787971C>TCA338469886C1orf167,MTHFRc.3286C>T (p.Gln1096Ter)
c.3772C>T (p.Gln1258Ter)
c.*2709G>A (n.*2709G>A)
c.1922C>T
c.4803G>A (n.4803G>A)
c.3844C>T (p.Gln1282Ter)
c.1271C>T
c.1101C>T
n.160C>T
c.3907C>T (p.Gln1303Ter)
c.3853C>T (p.Gln1285Ter)
c.3499C>T (p.Gln1167Ter)
c.2188C>T (p.Gln730Ter)
1g.11787972A>CCA338469887C1orf167,MTHFRc.3287A>C (p.Gln1096Pro)
c.3773A>C (p.Gln1258Pro)
c.*2708T>G (n.*2708T>G)
c.1923A>C
c.4802T>G (n.4802T>G)
c.3845A>C (p.Gln1282Pro)
c.1272A>C
c.1102A>C
n.161A>C
c.3908A>C (p.Gln1303Pro)
c.3854A>C (p.Gln1285Pro)
c.3500A>C (p.Gln1167Pro)
c.2189A>C (p.Gln730Pro)
 gnomAD v4
1g.11787972A>GCA338469888C1orf167,MTHFRc.3287A>G (p.Gln1096Arg)
c.3773A>G (p.Gln1258Arg)
c.*2708T>C (n.*2708T>C)
c.1923A>G
c.4802T>C (n.4802T>C)
c.3845A>G (p.Gln1282Arg)
c.1272A>G
c.1102A>G
n.161A>G
c.3908A>G (p.Gln1303Arg)
c.3854A>G (p.Gln1285Arg)
c.3500A>G (p.Gln1167Arg)
c.2189A>G (p.Gln730Arg)
 dbSNP
1g.11787972A>TCA338469889C1orf167,MTHFRc.3287A>T (p.Gln1096Leu)
c.3773A>T (p.Gln1258Leu)
c.*2708T>A (n.*2708T>A)
c.1923A>T
c.4802T>A (n.4802T>A)
c.3845A>T (p.Gln1282Leu)
c.1272A>T
c.1102A>T
n.161A>T
c.3908A>T (p.Gln1303Leu)
c.3854A>T (p.Gln1285Leu)
c.3500A>T (p.Gln1167Leu)
c.2189A>T (p.Gln730Leu)
1g.11787973G>ACA416361979C1orf167,MTHFRc.3288G>A (p.Gln1096=)
c.3774G>A (p.Gln1258=)
c.*2707C>T (n.*2707C>T)
c.1924G>A
c.4801C>T (n.4801C>T)
c.3846G>A (p.Gln1282=)
c.1273G>A
c.1103G>A
n.162G>A
c.3909G>A (p.Gln1303=)
c.3855G>A (p.Gln1285=)
c.3501G>A (p.Gln1167=)
c.2190G>A (p.Gln730=)
1g.11787973G>CCA338469890C1orf167,MTHFRc.3288G>C (p.Gln1096His)
c.3774G>C (p.Gln1258His)
c.*2707C>G (n.*2707C>G)
c.1924G>C
c.4801C>G (n.4801C>G)
c.3846G>C (p.Gln1282His)
c.1273G>C
c.1103G>C
n.162G>C
c.3909G>C (p.Gln1303His)
c.3855G>C (p.Gln1285His)
c.3501G>C (p.Gln1167His)
c.2190G>C (p.Gln730His)
1g.11787973G>TCA338469891C1orf167,MTHFRc.3288G>T (p.Gln1096His)
c.3774G>T (p.Gln1258His)
c.*2707C>A (n.*2707C>A)
c.1924G>T
c.4801C>A (n.4801C>A)
c.3846G>T (p.Gln1282His)
c.1273G>T
c.1103G>T
n.162G>T
c.3909G>T (p.Gln1303His)
c.3855G>T (p.Gln1285His)
c.3501G>T (p.Gln1167His)
c.2190G>T (p.Gln730His)
1g.11787974G>ACA338469894C1orf167,MTHFRc.3289G>A (p.Gly1097Arg)
c.3775G>A (p.Gly1259Arg)
c.*2706C>T (n.*2706C>T)
c.1925G>A
c.4800C>T (n.4800C>T)
c.3847G>A (p.Gly1283Arg)
c.1274G>A
c.1104G>A
n.163G>A
c.3910G>A (p.Gly1304Arg)
c.3856G>A (p.Gly1286Arg)
c.3502G>A (p.Gly1168Arg)
c.2191G>A (p.Gly731Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.11787974G>CCA338469893C1orf167,MTHFRc.3289G>C (p.Gly1097Arg)
c.3775G>C (p.Gly1259Arg)
c.*2706C>G (n.*2706C>G)
c.1925G>C
c.4800C>G (n.4800C>G)
c.3847G>C (p.Gly1283Arg)
c.1274G>C
c.1104G>C
n.163G>C
c.3910G>C (p.Gly1304Arg)
c.3856G>C (p.Gly1286Arg)
c.3502G>C (p.Gly1168Arg)
c.2191G>C (p.Gly731Arg)
1g.11787974G=CA1153786542C1orf167,MTHFRc.3289G= (p.Gly1097=)
c.3775G= (p.Gly1259=)
c.*2706C= (n.*2706C=)
c.1925G=
c.4800C= (n.4800C=)
c.3847G= (p.Gly1283=)
c.1274G=
c.1104G=
n.163G=
c.3910G= (p.Gly1304=)
c.3856G= (p.Gly1286=)
c.3502G= (p.Gly1168=)
c.2191G= (p.Gly731=)
1g.11787974G>TCA338469892C1orf167,MTHFRc.3289G>T (p.Gly1097Ter)
c.3775G>T (p.Gly1259Ter)
c.*2706C>A (n.*2706C>A)
c.1925G>T
c.4800C>A (n.4800C>A)
c.3847G>T (p.Gly1283Ter)
c.1274G>T
c.1104G>T
n.163G>T
c.3910G>T (p.Gly1304Ter)
c.3856G>T (p.Gly1286Ter)
c.3502G>T (p.Gly1168Ter)
c.2191G>T (p.Gly731Ter)
1g.11787975G>ACA338469895C1orf167,MTHFRc.3290G>A (p.Gly1097Glu)
c.3776G>A (p.Gly1259Glu)
c.*2705C>T (n.*2705C>T)
c.1926G>A
c.4799C>T (n.4799C>T)
c.3848G>A (p.Gly1283Glu)
c.1275G>A
c.1105G>A
n.164G>A
c.3911G>A (p.Gly1304Glu)
c.3857G>A (p.Gly1286Glu)
c.3503G>A (p.Gly1168Glu)
c.2192G>A (p.Gly731Glu)
 gnomAD v4
1g.11787975G>CCA338469896C1orf167,MTHFRc.3290G>C (p.Gly1097Ala)
c.3776G>C (p.Gly1259Ala)
c.*2705C>G (n.*2705C>G)
c.1926G>C
c.4799C>G (n.4799C>G)
c.3848G>C (p.Gly1283Ala)
c.1275G>C
c.1105G>C
n.164G>C
c.3911G>C (p.Gly1304Ala)
c.3857G>C (p.Gly1286Ala)
c.3503G>C (p.Gly1168Ala)
c.2192G>C (p.Gly731Ala)
1g.11787975G=CA1153786543C1orf167,MTHFRc.3290G= (p.Gly1097=)
c.3776G= (p.Gly1259=)
c.*2705C= (n.*2705C=)
c.1926G=
c.4799C= (n.4799C=)
c.3848G= (p.Gly1283=)
c.1275G=
c.1105G=
n.164G=
c.3911G= (p.Gly1304=)
c.3857G= (p.Gly1286=)
c.3503G= (p.Gly1168=)
c.2192G= (p.Gly731=)
1g.11787975G>TCA338469897C1orf167,MTHFRc.3290G>T (p.Gly1097Val)
c.3776G>T (p.Gly1259Val)
c.*2705C>A (n.*2705C>A)
c.1926G>T
c.4799C>A (n.4799C>A)
c.3848G>T (p.Gly1283Val)
c.1275G>T
c.1105G>T
n.164G>T
c.3911G>T (p.Gly1304Val)
c.3857G>T (p.Gly1286Val)
c.3503G>T (p.Gly1168Val)
c.2192G>T (p.Gly731Val)
 dbSNP gnomAD v4
1g.11787976A>CCA416361982C1orf167,MTHFRc.3291A>C (p.Gly1097=)
c.3777A>C (p.Gly1259=)
c.*2704T>G (n.*2704T>G)
c.1927A>C
c.4798T>G (n.4798T>G)
c.3849A>C (p.Gly1283=)
c.1276A>C
c.1106A>C
n.165A>C
c.3912A>C (p.Gly1304=)
c.3858A>C (p.Gly1286=)
c.3504A>C (p.Gly1168=)
c.2193A>C (p.Gly731=)
1g.11787976A>GCA416361984C1orf167,MTHFRc.3291A>G (p.Gly1097=)
c.3777A>G (p.Gly1259=)
c.*2704T>C (n.*2704T>C)
c.1927A>G
c.4798T>C (n.4798T>C)
c.3849A>G (p.Gly1283=)
c.1276A>G
c.1106A>G
n.165A>G
c.3912A>G (p.Gly1304=)
c.3858A>G (p.Gly1286=)
c.3504A>G (p.Gly1168=)
c.2193A>G (p.Gly731=)
1g.11787976A>TCA416361986C1orf167,MTHFRc.3291A>T (p.Gly1097=)
c.3777A>T (p.Gly1259=)
c.*2704T>A (n.*2704T>A)
c.1927A>T
c.4798T>A (n.4798T>A)
c.3849A>T (p.Gly1283=)
c.1276A>T
c.1106A>T
n.165A>T
c.3912A>T (p.Gly1304=)
c.3858A>T (p.Gly1286=)
c.3504A>T (p.Gly1168=)
c.2193A>T (p.Gly731=)
1g.11787976_11787982dupCA2643295284C1orf167,MTHFRc.3291_3297dup (p.Ala1100ThrfsTer8)
c.3777_3783dup (p.Ala1262ThrfsTer8)
c.*2698_*2704dup (n.*2698_*2704dup)
c.1927_1933dup
c.4792_4798dup (n.4792_4798dup)
c.3849_3855dup (p.Ala1286ThrfsTer8)
c.1276_1282dup
c.1106_1112dup
n.165_171dup
c.3912_3918dup (p.Ala1307ThrfsTer8)
c.3858_3864dup (p.Ala1289ThrfsTer8)
c.3504_3510dup (p.Ala1171ThrfsTer8)
c.2193_2199dup (p.Ala734ThrfsTer8)
 gnomAD v4
1g.11787977C>ACA338469898C1orf167,MTHFRc.3292C>A (p.Pro1098Thr)
c.3778C>A (p.Pro1260Thr)
c.*2703G>T (n.*2703G>T)
c.1928C>A
c.4797G>T (n.4797G>T)
c.3850C>A (p.Pro1284Thr)
c.1277C>A
c.1107C>A
n.166C>A
c.3913C>A (p.Pro1305Thr)
c.3859C>A (p.Pro1287Thr)
c.3505C>A (p.Pro1169Thr)
c.2194C>A (p.Pro732Thr)
1g.11787977C>GCA338469899C1orf167,MTHFRc.3292C>G (p.Pro1098Ala)
c.3778C>G (p.Pro1260Ala)
c.*2703G>C (n.*2703G>C)
c.1928C>G
c.4797G>C (n.4797G>C)
c.3850C>G (p.Pro1284Ala)
c.1277C>G
c.1107C>G
n.166C>G
c.3913C>G (p.Pro1305Ala)
c.3859C>G (p.Pro1287Ala)
c.3505C>G (p.Pro1169Ala)
c.2194C>G (p.Pro732Ala)
1g.11787977C>TCA338469900C1orf167,MTHFRc.3292C>T (p.Pro1098Ser)
c.3778C>T (p.Pro1260Ser)
c.*2703G>A (n.*2703G>A)
c.1928C>T
c.4797G>A (n.4797G>A)
c.3850C>T (p.Pro1284Ser)
c.1277C>T
c.1107C>T
n.166C>T
c.3913C>T (p.Pro1305Ser)
c.3859C>T (p.Pro1287Ser)
c.3505C>T (p.Pro1169Ser)
c.2194C>T (p.Pro732Ser)
1g.11787978C>ACA338469901C1orf167,MTHFRc.3293C>A (p.Pro1098Gln)
c.3779C>A (p.Pro1260Gln)
c.*2702G>T (n.*2702G>T)
c.1929C>A
c.4796G>T (n.4796G>T)
c.3851C>A (p.Pro1284Gln)
c.1278C>A
c.1108C>A
n.167C>A
c.3914C>A (p.Pro1305Gln)
c.3860C>A (p.Pro1287Gln)
c.3506C>A (p.Pro1169Gln)
c.2195C>A (p.Pro732Gln)
1g.11787978C=CA1153786545C1orf167,MTHFRc.3293C= (p.Pro1098=)
c.3779C= (p.Pro1260=)
c.*2702G= (n.*2702G=)
c.1929C=
c.4796G= (n.4796G=)
c.3851C= (p.Pro1284=)
c.1278C=
c.1108C=
n.167C=
c.3914C= (p.Pro1305=)
c.3860C= (p.Pro1287=)
c.3506C= (p.Pro1169=)
c.2195C= (p.Pro732=)
1g.11787978C>GCA338469902C1orf167,MTHFRc.3293C>G (p.Pro1098Arg)
c.3779C>G (p.Pro1260Arg)
c.*2702G>C (n.*2702G>C)
c.1929C>G
c.4796G>C (n.4796G>C)
c.3851C>G (p.Pro1284Arg)
c.1278C>G
c.1108C>G
n.167C>G
c.3914C>G (p.Pro1305Arg)
c.3860C>G (p.Pro1287Arg)
c.3506C>G (p.Pro1169Arg)
c.2195C>G (p.Pro732Arg)
 dbSNP
1g.11787978C>TCA338469903C1orf167,MTHFRc.3293C>T (p.Pro1098Leu)
c.3779C>T (p.Pro1260Leu)
c.*2702G>A (n.*2702G>A)
c.1929C>T
c.4796G>A (n.4796G>A)
c.3851C>T (p.Pro1284Leu)
c.1278C>T
c.1108C>T
n.167C>T
c.3914C>T (p.Pro1305Leu)
c.3860C>T (p.Pro1287Leu)
c.3506C>T (p.Pro1169Leu)
c.2195C>T (p.Pro732Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.11787979A>CCA416361989C1orf167,MTHFRc.3294A>C (p.Pro1098=)
c.3780A>C (p.Pro1260=)
c.*2701T>G (n.*2701T>G)
c.1930A>C
c.4795T>G (n.4795T>G)
c.3852A>C (p.Pro1284=)
c.1279A>C
c.1109A>C
n.168A>C
c.3915A>C (p.Pro1305=)
c.3861A>C (p.Pro1287=)
c.3507A>C (p.Pro1169=)
c.2196A>C (p.Pro732=)
1g.11787979A>GCA416361990C1orf167,MTHFRc.3294A>G (p.Pro1098=)
c.3780A>G (p.Pro1260=)
c.*2701T>C (n.*2701T>C)
c.1930A>G
c.4795T>C (n.4795T>C)
c.3852A>G (p.Pro1284=)
c.1279A>G
c.1109A>G
n.168A>G
c.3915A>G (p.Pro1305=)
c.3861A>G (p.Pro1287=)
c.3507A>G (p.Pro1169=)
c.2196A>G (p.Pro732=)
1g.11787979A>TCA416361991C1orf167,MTHFRc.3294A>T (p.Pro1098=)
c.3780A>T (p.Pro1260=)
c.*2701T>A (n.*2701T>A)
c.1930A>T
c.4795T>A (n.4795T>A)
c.3852A>T (p.Pro1284=)
c.1279A>T
c.1109A>T
n.168A>T
c.3915A>T (p.Pro1305=)
c.3861A>T (p.Pro1287=)
c.3507A>T (p.Pro1169=)
c.2196A>T (p.Pro732=)
1g.11787980A>CCA416361995C1orf167,MTHFRc.3295A>C (p.Arg1099=)
c.3781A>C (p.Arg1261=)
c.*2700T>G (n.*2700T>G)
c.1931A>C
c.4794T>G (n.4794T>G)
c.3853A>C (p.Arg1285=)
c.1280A>C
c.1110A>C
n.169A>C
c.3916A>C (p.Arg1306=)
c.3862A>C (p.Arg1288=)
c.3508A>C (p.Arg1170=)
c.2197A>C (p.Arg733=)
1g.11787980A>GCA338469904C1orf167,MTHFRc.3295A>G (p.Arg1099Gly)
c.3781A>G (p.Arg1261Gly)
c.*2700T>C (n.*2700T>C)
c.1931A>G
c.4794T>C (n.4794T>C)
c.3853A>G (p.Arg1285Gly)
c.1280A>G
c.1110A>G
n.169A>G
c.3916A>G (p.Arg1306Gly)
c.3862A>G (p.Arg1288Gly)
c.3508A>G (p.Arg1170Gly)
c.2197A>G (p.Arg733Gly)
1g.11787980A>TCA338469905C1orf167,MTHFRc.3295A>T (p.Arg1099Ter)
c.3781A>T (p.Arg1261Ter)
c.*2700T>A (n.*2700T>A)
c.1931A>T
c.4794T>A (n.4794T>A)
c.3853A>T (p.Arg1285Ter)
c.1280A>T
c.1110A>T
n.169A>T
c.3916A>T (p.Arg1306Ter)
c.3862A>T (p.Arg1288Ter)
c.3508A>T (p.Arg1170Ter)
c.2197A>T (p.Arg733Ter)
1g.11787981G>ACA338469907C1orf167,MTHFRc.3296G>A (p.Arg1099Lys)
c.3782G>A (p.Arg1261Lys)
c.*2699C>T (n.*2699C>T)
c.1932G>A
c.4793C>T (n.4793C>T)
c.3854G>A (p.Arg1285Lys)
c.1281G>A
c.1111G>A
n.170G>A
c.3917G>A (p.Arg1306Lys)
c.3863G>A (p.Arg1288Lys)
c.3509G>A (p.Arg1170Lys)
c.2198G>A (p.Arg733Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11787981G>CCA338469908C1orf167,MTHFRc.3296G>C (p.Arg1099Thr)
c.3782G>C (p.Arg1261Thr)
c.*2699C>G (n.*2699C>G)
c.1932G>C
c.4793C>G (n.4793C>G)
c.3854G>C (p.Arg1285Thr)
c.1281G>C
c.1111G>C
n.170G>C
c.3917G>C (p.Arg1306Thr)
c.3863G>C (p.Arg1288Thr)
c.3509G>C (p.Arg1170Thr)
c.2198G>C (p.Arg733Thr)
1g.11787981G=CA1153786547C1orf167,MTHFRc.3296G= (p.Arg1099=)
c.3782G= (p.Arg1261=)
c.*2699C= (n.*2699C=)
c.1932G=
c.4793C= (n.4793C=)
c.3854G= (p.Arg1285=)
c.1281G=
c.1111G=
n.170G=
c.3917G= (p.Arg1306=)
c.3863G= (p.Arg1288=)
c.3509G= (p.Arg1170=)
c.2198G= (p.Arg733=)
1g.11787981G>TCA338469906C1orf167,MTHFRc.3296G>T (p.Arg1099Ile)
c.3782G>T (p.Arg1261Ile)
c.*2699C>A (n.*2699C>A)
c.1932G>T
c.4793C>A (n.4793C>A)
c.3854G>T (p.Arg1285Ile)
c.1281G>T
c.1111G>T
n.170G>T
c.3917G>T (p.Arg1306Ile)
c.3863G>T (p.Arg1288Ile)
c.3509G>T (p.Arg1170Ile)
c.2198G>T (p.Arg733Ile)
1g.11787982A>CCA338469909C1orf167,MTHFRc.3297A>C (p.Arg1099Ser)
c.3783A>C (p.Arg1261Ser)
c.*2698T>G (n.*2698T>G)
c.1933A>C
c.4792T>G (n.4792T>G)
c.3855A>C (p.Arg1285Ser)
c.1282A>C
c.1112A>C
n.171A>C
c.3918A>C (p.Arg1306Ser)
c.3864A>C (p.Arg1288Ser)
c.3510A>C (p.Arg1170Ser)
c.2199A>C (p.Arg733Ser)
1g.11787982A>GCA416361996C1orf167,MTHFRc.3297A>G (p.Arg1099=)
c.3783A>G (p.Arg1261=)
c.*2698T>C (n.*2698T>C)
c.1933A>G
c.4792T>C (n.4792T>C)
c.3855A>G (p.Arg1285=)
c.1282A>G
c.1112A>G
n.171A>G
c.3918A>G (p.Arg1306=)
c.3864A>G (p.Arg1288=)
c.3510A>G (p.Arg1170=)
c.2199A>G (p.Arg733=)
1g.11787982A>TCA338469910C1orf167,MTHFRc.3297A>T (p.Arg1099Ser)
c.3783A>T (p.Arg1261Ser)
c.*2698T>A (n.*2698T>A)
c.1933A>T
c.4792T>A (n.4792T>A)
c.3855A>T (p.Arg1285Ser)
c.1282A>T
c.1112A>T
n.171A>T
c.3918A>T (p.Arg1306Ser)
c.3864A>T (p.Arg1288Ser)
c.3510A>T (p.Arg1170Ser)
c.2199A>T (p.Arg733Ser)
1g.11787983G>ACA338469911C1orf167,MTHFRc.3298G>A (p.Ala1100Thr)
c.3784G>A (p.Ala1262Thr)
c.*2697C>T (n.*2697C>T)
c.1934G>A
c.4791C>T (n.4791C>T)
c.3856G>A (p.Ala1286Thr)
c.1283G>A
c.1113G>A
n.172G>A
c.3919G>A (p.Ala1307Thr)
c.3865G>A (p.Ala1289Thr)
c.3511G>A (p.Ala1171Thr)
c.2200G>A (p.Ala734Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11787983G>CCA338469912C1orf167,MTHFRc.3298G>C (p.Ala1100Pro)
c.3784G>C (p.Ala1262Pro)
c.*2697C>G (n.*2697C>G)
c.1934G>C
c.4791C>G (n.4791C>G)
c.3856G>C (p.Ala1286Pro)
c.1283G>C
c.1113G>C
n.172G>C
c.3919G>C (p.Ala1307Pro)
c.3865G>C (p.Ala1289Pro)
c.3511G>C (p.Ala1171Pro)
c.2200G>C (p.Ala734Pro)
1g.11787983G=CA1153786550C1orf167,MTHFRc.3298G= (p.Ala1100=)
c.3784G= (p.Ala1262=)
c.*2697C= (n.*2697C=)
c.1934G=
c.4791C= (n.4791C=)
c.3856G= (p.Ala1286=)
c.1283G=
c.1113G=
n.172G=
c.3919G= (p.Ala1307=)
c.3865G= (p.Ala1289=)
c.3511G= (p.Ala1171=)
c.2200G= (p.Ala734=)
1g.11787983G>TCA338469913C1orf167,MTHFRc.3298G>T (p.Ala1100Ser)
c.3784G>T (p.Ala1262Ser)
c.*2697C>A (n.*2697C>A)
c.1934G>T
c.4791C>A (n.4791C>A)
c.3856G>T (p.Ala1286Ser)
c.1283G>T
c.1113G>T
n.172G>T
c.3919G>T (p.Ala1307Ser)
c.3865G>T (p.Ala1289Ser)
c.3511G>T (p.Ala1171Ser)
c.2200G>T (p.Ala734Ser)
1g.11787984C>ACA338469914C1orf167,MTHFRc.3299C>A (p.Ala1100Glu)
c.3785C>A (p.Ala1262Glu)
c.*2696G>T (n.*2696G>T)
c.1935C>A
c.4790G>T (n.4790G>T)
c.3857C>A (p.Ala1286Glu)
c.1284C>A
c.1114C>A
n.173C>A
c.3920C>A (p.Ala1307Glu)
c.3866C>A (p.Ala1289Glu)
c.3512C>A (p.Ala1171Glu)
c.2201C>A (p.Ala734Glu)
1g.11787984C=CA1153786553C1orf167,MTHFRc.3299C= (p.Ala1100=)
c.3785C= (p.Ala1262=)
c.*2696G= (n.*2696G=)
c.1935C=
c.4790G= (n.4790G=)
c.3857C= (p.Ala1286=)
c.1284C=
c.1114C=
n.173C=
c.3920C= (p.Ala1307=)
c.3866C= (p.Ala1289=)
c.3512C= (p.Ala1171=)
c.2201C= (p.Ala734=)
1g.11787984C>GCA338469915C1orf167,MTHFRc.3299C>G (p.Ala1100Gly)
c.3785C>G (p.Ala1262Gly)
c.*2696G>C (n.*2696G>C)
c.1935C>G
c.4790G>C (n.4790G>C)
c.3857C>G (p.Ala1286Gly)
c.1284C>G
c.1114C>G
n.173C>G
c.3920C>G (p.Ala1307Gly)
c.3866C>G (p.Ala1289Gly)
c.3512C>G (p.Ala1171Gly)
c.2201C>G (p.Ala734Gly)
1g.11787984C>TCA17996005C1orf167,MTHFRc.3299C>T (p.Ala1100Val)
c.3785C>T (p.Ala1262Val)
c.*2696G>A (n.*2696G>A)
c.1935C>T
c.4790G>A (n.4790G>A)
c.3857C>T (p.Ala1286Val)
c.1284C>T
c.1114C>T
n.173C>T
c.3920C>T (p.Ala1307Val)
c.3866C>T (p.Ala1289Val)
c.3512C>T (p.Ala1171Val)
c.2201C>T (p.Ala734Val)
 dbSNP gnomAD v4
1g.11787985G>ACA595057C1orf167,MTHFRc.3300G>A (p.Ala1100=)
c.3786G>A (p.Ala1262=)
c.*2695C>T (n.*2695C>T)
c.1936G>A
c.4789C>T (n.4789C>T)
c.3858G>A (p.Ala1286=)
c.1285G>A
c.1115G>A
n.174G>A
c.3921G>A (p.Ala1307=)
c.3867G>A (p.Ala1289=)
c.3513G>A (p.Ala1171=)
c.2202G>A (p.Ala734=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11787985G>CCA416362001C1orf167,MTHFRc.3300G>C (p.Ala1100=)
c.3786G>C (p.Ala1262=)
c.*2695C>G (n.*2695C>G)
c.1936G>C
c.4789C>G (n.4789C>G)
c.3858G>C (p.Ala1286=)
c.1285G>C
c.1115G>C
n.174G>C
c.3921G>C (p.Ala1307=)
c.3867G>C (p.Ala1289=)
c.3513G>C (p.Ala1171=)
c.2202G>C (p.Ala734=)
1g.11787985G=CA1145701734C1orf167,MTHFRc.3300G= (p.Ala1100=)
c.3786G= (p.Ala1262=)
c.*2695C= (n.*2695C=)
c.1936G=
c.4789C= (n.4789C=)
c.3858G= (p.Ala1286=)
c.1285G=
c.1115G=
n.174G=
c.3921G= (p.Ala1307=)
c.3867G= (p.Ala1289=)
c.3513G= (p.Ala1171=)
c.2202G= (p.Ala734=)
1g.11787985G>TCA416362003C1orf167,MTHFRc.3300G>T (p.Ala1100=)
c.3786G>T (p.Ala1262=)
c.*2695C>A (n.*2695C>A)
c.1936G>T
c.4789C>A (n.4789C>A)
c.3858G>T (p.Ala1286=)
c.1285G>T
c.1115G>T
n.174G>T
c.3921G>T (p.Ala1307=)
c.3867G>T (p.Ala1289=)
c.3513G>T (p.Ala1171=)
c.2202G>T (p.Ala734=)
1g.11787986C>ACA338469916C1orf167,MTHFRc.3301C>A (p.His1101Asn)
c.3787C>A (p.His1263Asn)
c.*2694G>T (n.*2694G>T)
c.1937C>A
c.4788G>T (n.4788G>T)
c.3859C>A (p.His1287Asn)
c.1286C>A
c.1116C>A
n.175C>A
c.3922C>A (p.His1308Asn)
c.3868C>A (p.His1290Asn)
c.3514C>A (p.His1172Asn)
c.2203C>A (p.His735Asn)
1g.11787986C=CA1153786558C1orf167,MTHFRc.3301C= (p.His1101=)
c.3787C= (p.His1263=)
c.*2694G= (n.*2694G=)
c.1937C=
c.4788G= (n.4788G=)
c.3859C= (p.His1287=)
c.1286C=
c.1116C=
n.175C=
c.3922C= (p.His1308=)
c.3868C= (p.His1290=)
c.3514C= (p.His1172=)
c.2203C= (p.His735=)
1g.11787986C>GCA338469917C1orf167,MTHFRc.3301C>G (p.His1101Asp)
c.3787C>G (p.His1263Asp)
c.*2694G>C (n.*2694G>C)
c.1937C>G
c.4788G>C (n.4788G>C)
c.3859C>G (p.His1287Asp)
c.1286C>G
c.1116C>G
n.175C>G
c.3922C>G (p.His1308Asp)
c.3868C>G (p.His1290Asp)
c.3514C>G (p.His1172Asp)
c.2203C>G (p.His735Asp)
1g.11787986C>TCA17996006C1orf167,MTHFRc.3301C>T (p.His1101Tyr)
c.3787C>T (p.His1263Tyr)
c.*2694G>A (n.*2694G>A)
c.1937C>T
c.4788G>A (n.4788G>A)
c.3859C>T (p.His1287Tyr)
c.1286C>T
c.1116C>T
n.175C>T
c.3922C>T (p.His1308Tyr)
c.3868C>T (p.His1290Tyr)
c.3514C>T (p.His1172Tyr)
c.2203C>T (p.His735Tyr)
 dbSNP
1g.11787987A=CA1153786561C1orf167,MTHFRc.3302A= (p.His1101=)
c.3788A= (p.His1263=)
c.*2693T= (n.*2693T=)
c.1938A=
c.4787T= (n.4787T=)
c.3860A= (p.His1287=)
c.1287A=
c.1117A=
n.176A=
c.3923A= (p.His1308=)
c.3869A= (p.His1290=)
c.3515A= (p.His1172=)
c.2204A= (p.His735=)
1g.11787987A>CCA338469919C1orf167,MTHFRc.3302A>C (p.His1101Pro)
c.3788A>C (p.His1263Pro)
c.*2693T>G (n.*2693T>G)
c.1938A>C
c.4787T>G (n.4787T>G)
c.3860A>C (p.His1287Pro)
c.1287A>C
c.1117A>C
n.176A>C
c.3923A>C (p.His1308Pro)
c.3869A>C (p.His1290Pro)
c.3515A>C (p.His1172Pro)
c.2204A>C (p.His735Pro)
1g.11787987A>GCA595058C1orf167,MTHFRc.3302A>G (p.His1101Arg)
c.3788A>G (p.His1263Arg)
c.*2693T>C (n.*2693T>C)
c.1938A>G
c.4787T>C (n.4787T>C)
c.3860A>G (p.His1287Arg)
c.1287A>G
c.1117A>G
n.176A>G
c.3923A>G (p.His1308Arg)
c.3869A>G (p.His1290Arg)
c.3515A>G (p.His1172Arg)
c.2204A>G (p.His735Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11787987A>TCA338469918C1orf167,MTHFRc.3302A>T (p.His1101Leu)
c.3788A>T (p.His1263Leu)
c.*2693T>A (n.*2693T>A)
c.1938A>T
c.4787T>A (n.4787T>A)
c.3860A>T (p.His1287Leu)
c.1287A>T
c.1117A>T
n.176A>T
c.3923A>T (p.His1308Leu)
c.3869A>T (p.His1290Leu)
c.3515A>T (p.His1172Leu)
c.2204A>T (p.His735Leu)
1g.11787988C>ACA338469920C1orf167,MTHFRc.3303C>A (p.His1101Gln)
c.3789C>A (p.His1263Gln)
c.*2692G>T (n.*2692G>T)
c.1939C>A
c.4786G>T (n.4786G>T)
c.3861C>A (p.His1287Gln)
c.1288C>A
c.1118C>A
n.177C>A
c.3924C>A (p.His1308Gln)
c.3870C>A (p.His1290Gln)
c.3516C>A (p.His1172Gln)
c.2205C>A (p.His735Gln)
1g.11787988C>GCA338469921C1orf167,MTHFRc.3303C>G (p.His1101Gln)
c.3789C>G (p.His1263Gln)
c.*2692G>C (n.*2692G>C)
c.1939C>G
c.4786G>C (n.4786G>C)
c.3861C>G (p.His1287Gln)
c.1288C>G
c.1118C>G
n.177C>G
c.3924C>G (p.His1308Gln)
c.3870C>G (p.His1290Gln)
c.3516C>G (p.His1172Gln)
c.2205C>G (p.His735Gln)
1g.11787988C>TCA416362009C1orf167,MTHFRc.3303C>T (p.His1101=)
c.3789C>T (p.His1263=)
c.*2692G>A (n.*2692G>A)
c.1939C>T
c.4786G>A (n.4786G>A)
c.3861C>T (p.His1287=)
c.1288C>T
c.1118C>T
n.177C>T
c.3924C>T (p.His1308=)
c.3870C>T (p.His1290=)
c.3516C>T (p.His1172=)
c.2205C>T (p.His735=)
1g.11787989T>ACA338469922C1orf167,MTHFRc.3304T>A (p.Ser1102Thr)
c.3790T>A (p.Ser1264Thr)
c.*2691A>T (n.*2691A>T)
c.1940T>A
c.4785A>T (n.4785A>T)
c.3862T>A (p.Ser1288Thr)
c.1289T>A
c.1119T>A
n.178T>A
c.3925T>A (p.Ser1309Thr)
c.3871T>A (p.Ser1291Thr)
c.3517T>A (p.Ser1173Thr)
c.2206T>A (p.Ser736Thr)
1g.11787989T>CCA338469923C1orf167,MTHFRc.3304T>C (p.Ser1102Pro)
c.3790T>C (p.Ser1264Pro)
c.*2691A>G (n.*2691A>G)
c.1940T>C
c.4785A>G (n.4785A>G)
c.3862T>C (p.Ser1288Pro)
c.1289T>C
c.1119T>C
n.178T>C
c.3925T>C (p.Ser1309Pro)
c.3871T>C (p.Ser1291Pro)
c.3517T>C (p.Ser1173Pro)
c.2206T>C (p.Ser736Pro)
1g.11787989T>GCA338469924C1orf167,MTHFRc.3304T>G (p.Ser1102Ala)
c.3790T>G (p.Ser1264Ala)
c.*2691A>C (n.*2691A>C)
c.1940T>G
c.4785A>C (n.4785A>C)
c.3862T>G (p.Ser1288Ala)
c.1289T>G
c.1119T>G
n.178T>G
c.3925T>G (p.Ser1309Ala)
c.3871T>G (p.Ser1291Ala)
c.3517T>G (p.Ser1173Ala)
c.2206T>G (p.Ser736Ala)
1g.11787990C>ACA338469926C1orf167,MTHFRc.3305C>A (p.Ser1102Tyr)
c.3791C>A (p.Ser1264Tyr)
c.*2690G>T (n.*2690G>T)
c.1941C>A
c.4784G>T (n.4784G>T)
c.3863C>A (p.Ser1288Tyr)
c.1290C>A
c.1120C>A
n.179C>A
c.3926C>A (p.Ser1309Tyr)
c.3872C>A (p.Ser1291Tyr)
c.3518C>A (p.Ser1173Tyr)
c.2207C>A (p.Ser736Tyr)
 gnomAD v4
1g.11787990C=CA1153786565C1orf167,MTHFRc.3305C= (p.Ser1102=)
c.3791C= (p.Ser1264=)
c.*2690G= (n.*2690G=)
c.1941C=
c.4784G= (n.4784G=)
c.3863C= (p.Ser1288=)
c.1290C=
c.1120C=
n.179C=
c.3926C= (p.Ser1309=)
c.3872C= (p.Ser1291=)
c.3518C= (p.Ser1173=)
c.2207C= (p.Ser736=)
1g.11787990C>GCA338469925C1orf167,MTHFRc.3305C>G (p.Ser1102Cys)
c.3791C>G (p.Ser1264Cys)
c.*2690G>C (n.*2690G>C)
c.1941C>G
c.4784G>C (n.4784G>C)
c.3863C>G (p.Ser1288Cys)
c.1290C>G
c.1120C>G
n.179C>G
c.3926C>G (p.Ser1309Cys)
c.3872C>G (p.Ser1291Cys)
c.3518C>G (p.Ser1173Cys)
c.2207C>G (p.Ser736Cys)
1g.11787990C>TCA17996020C1orf167,MTHFRc.3305C>T (p.Ser1102Phe)
c.3791C>T (p.Ser1264Phe)
c.*2690G>A (n.*2690G>A)
c.1941C>T
c.4784G>A (n.4784G>A)
c.3863C>T (p.Ser1288Phe)
c.1290C>T
c.1120C>T
n.179C>T
c.3926C>T (p.Ser1309Phe)
c.3872C>T (p.Ser1291Phe)
c.3518C>T (p.Ser1173Phe)
c.2207C>T (p.Ser736Phe)
 dbSNP gnomAD v4
1g.11787991C>ACA416362015C1orf167,MTHFRc.3306C>A (p.Ser1102=)
c.3792C>A (p.Ser1264=)
c.*2689G>T (n.*2689G>T)
c.1942C>A
c.4783G>T (n.4783G>T)
c.3864C>A (p.Ser1288=)
c.1291C>A
c.1121C>A
n.180C>A
c.3927C>A (p.Ser1309=)
c.3873C>A (p.Ser1291=)
c.3519C>A (p.Ser1173=)
c.2208C>A (p.Ser736=)
1g.11787991C>GCA416362016C1orf167,MTHFRc.3306C>G (p.Ser1102=)
c.3792C>G (p.Ser1264=)
c.*2689G>C (n.*2689G>C)
c.1942C>G
c.4783G>C (n.4783G>C)
c.3864C>G (p.Ser1288=)
c.1291C>G
c.1121C>G
n.180C>G
c.3927C>G (p.Ser1309=)
c.3873C>G (p.Ser1291=)
c.3519C>G (p.Ser1173=)
c.2208C>G (p.Ser736=)
1g.11787991C>TCA416362014C1orf167,MTHFRc.3306C>T (p.Ser1102=)
c.3792C>T (p.Ser1264=)
c.*2689G>A (n.*2689G>A)
c.1942C>T
c.4783G>A (n.4783G>A)
c.3864C>T (p.Ser1288=)
c.1291C>T
c.1121C>T
n.180C>T
c.3927C>T (p.Ser1309=)
c.3873C>T (p.Ser1291=)
c.3519C>T (p.Ser1173=)
c.2208C>T (p.Ser736=)
1g.11787992A=CA1153786573C1orf167,MTHFRc.3307A= (p.Ser1103=)
c.3793A= (p.Ser1265=)
c.*2688T= (n.*2688T=)
c.1943A=
c.4782T= (n.4782T=)
c.3865A= (p.Ser1289=)
c.1292A=
c.1122A=
n.181A=
c.3928A= (p.Ser1310=)
c.3874A= (p.Ser1292=)
c.3520A= (p.Ser1174=)
c.2209A= (p.Ser737=)
1g.11787992A>CCA338469927C1orf167,MTHFRc.3307A>C (p.Ser1103Arg)
c.3793A>C (p.Ser1265Arg)
c.*2688T>G (n.*2688T>G)
c.1943A>C
c.4782T>G (n.4782T>G)
c.3865A>C (p.Ser1289Arg)
c.1292A>C
c.1122A>C
n.181A>C
c.3928A>C (p.Ser1310Arg)
c.3874A>C (p.Ser1292Arg)
c.3520A>C (p.Ser1174Arg)
c.2209A>C (p.Ser737Arg)
1g.11787992A>GCA338469928C1orf167,MTHFRc.3307A>G (p.Ser1103Gly)
c.3793A>G (p.Ser1265Gly)
c.*2688T>C (n.*2688T>C)
c.1943A>G
c.4782T>C (n.4782T>C)
c.3865A>G (p.Ser1289Gly)
c.1292A>G
c.1122A>G
n.181A>G
c.3928A>G (p.Ser1310Gly)
c.3874A>G (p.Ser1292Gly)
c.3520A>G (p.Ser1174Gly)
c.2209A>G (p.Ser737Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.11787992A>TCA338469929C1orf167,MTHFRc.3307A>T (p.Ser1103Cys)
c.3793A>T (p.Ser1265Cys)
c.*2688T>A (n.*2688T>A)
c.1943A>T
c.4782T>A (n.4782T>A)
c.3865A>T (p.Ser1289Cys)
c.1292A>T
c.1122A>T
n.181A>T
c.3928A>T (p.Ser1310Cys)
c.3874A>T (p.Ser1292Cys)
c.3520A>T (p.Ser1174Cys)
c.2209A>T (p.Ser737Cys)
1g.11787993G>ACA338469930C1orf167,MTHFRc.3308G>A (p.Ser1103Asn)
c.3794G>A (p.Ser1265Asn)
c.*2687C>T (n.*2687C>T)
c.1944G>A
c.4781C>T (n.4781C>T)
c.3866G>A (p.Ser1289Asn)
c.1293G>A
c.1123G>A
n.182G>A
c.3929G>A (p.Ser1310Asn)
c.3875G>A (p.Ser1292Asn)
c.3521G>A (p.Ser1174Asn)
c.2210G>A (p.Ser737Asn)
 dbSNP
1g.11787993G>CCA338469931C1orf167,MTHFRc.3308G>C (p.Ser1103Thr)
c.3794G>C (p.Ser1265Thr)
c.*2687C>G (n.*2687C>G)
c.1944G>C
c.4781C>G (n.4781C>G)
c.3866G>C (p.Ser1289Thr)
c.1293G>C
c.1123G>C
n.182G>C
c.3929G>C (p.Ser1310Thr)
c.3875G>C (p.Ser1292Thr)
c.3521G>C (p.Ser1174Thr)
c.2210G>C (p.Ser737Thr)
1g.11787993G=CA1153786576C1orf167,MTHFRc.3308G= (p.Ser1103=)
c.3794G= (p.Ser1265=)
c.*2687C= (n.*2687C=)
c.1944G=
c.4781C= (n.4781C=)
c.3866G= (p.Ser1289=)
c.1293G=
c.1123G=
n.182G=
c.3929G= (p.Ser1310=)
c.3875G= (p.Ser1292=)
c.3521G= (p.Ser1174=)
c.2210G= (p.Ser737=)
1g.11787993G>TCA338469932C1orf167,MTHFRc.3308G>T (p.Ser1103Ile)
c.3794G>T (p.Ser1265Ile)
c.*2687C>A (n.*2687C>A)
c.1944G>T
c.4781C>A (n.4781C>A)
c.3866G>T (p.Ser1289Ile)
c.1293G>T
c.1123G>T
n.182G>T
c.3929G>T (p.Ser1310Ile)
c.3875G>T (p.Ser1292Ile)
c.3521G>T (p.Ser1174Ile)
c.2210G>T (p.Ser737Ile)
1g.11787994C>ACA338469934C1orf167,MTHFRc.3309C>A (p.Ser1103Arg)
c.3795C>A (p.Ser1265Arg)
c.*2686G>T (n.*2686G>T)
c.1945C>A
c.4780G>T (n.4780G>T)
c.3867C>A (p.Ser1289Arg)
c.1294C>A
c.1124C>A
n.183C>A
c.3930C>A (p.Ser1310Arg)
c.3876C>A (p.Ser1292Arg)
c.3522C>A (p.Ser1174Arg)
c.2211C>A (p.Ser737Arg)
1g.11787994C>GCA338469933C1orf167,MTHFRc.3309C>G (p.Ser1103Arg)
c.3795C>G (p.Ser1265Arg)
c.*2686G>C (n.*2686G>C)
c.1945C>G
c.4780G>C (n.4780G>C)
c.3867C>G (p.Ser1289Arg)
c.1294C>G
c.1124C>G
n.183C>G
c.3930C>G (p.Ser1310Arg)
c.3876C>G (p.Ser1292Arg)
c.3522C>G (p.Ser1174Arg)
c.2211C>G (p.Ser737Arg)
1g.11787994C>TCA416362019C1orf167,MTHFRc.3309C>T (p.Ser1103=)
c.3795C>T (p.Ser1265=)
c.*2686G>A (n.*2686G>A)
c.1945C>T
c.4780G>A (n.4780G>A)
c.3867C>T (p.Ser1289=)
c.1294C>T
c.1124C>T
n.183C>T
c.3930C>T (p.Ser1310=)
c.3876C>T (p.Ser1292=)
c.3522C>T (p.Ser1174=)
c.2211C>T (p.Ser737=)
 gnomAD v4
1g.11787995C>ACA338469935C1orf167,MTHFRc.3310C>A (p.Pro1104Thr)
c.3796C>A (p.Pro1266Thr)
c.*2685G>T (n.*2685G>T)
c.1946C>A
c.4779G>T (n.4779G>T)
c.3868C>A (p.Pro1290Thr)
c.1295C>A
c.1125C>A
n.184C>A
c.3931C>A (p.Pro1311Thr)
c.3877C>A (p.Pro1293Thr)
c.3523C>A (p.Pro1175Thr)
c.2212C>A (p.Pro738Thr)
1g.11787995C=CA1153786586C1orf167,MTHFRc.3310C= (p.Pro1104=)
c.3796C= (p.Pro1266=)
c.*2685G= (n.*2685G=)
c.1946C=
c.4779G= (n.4779G=)
c.3868C= (p.Pro1290=)
c.1295C=
c.1125C=
n.184C=
c.3931C= (p.Pro1311=)
c.3877C= (p.Pro1293=)
c.3523C= (p.Pro1175=)
c.2212C= (p.Pro738=)
1g.11787995C>GCA338469937C1orf167,MTHFRc.3310C>G (p.Pro1104Ala)
c.3796C>G (p.Pro1266Ala)
c.*2685G>C (n.*2685G>C)
c.1946C>G
c.4779G>C (n.4779G>C)
c.3868C>G (p.Pro1290Ala)
c.1295C>G
c.1125C>G
n.184C>G
c.3931C>G (p.Pro1311Ala)
c.3877C>G (p.Pro1293Ala)
c.3523C>G (p.Pro1175Ala)
c.2212C>G (p.Pro738Ala)
1g.11787995C>TCA338469936C1orf167,MTHFRc.3310C>T (p.Pro1104Ser)
c.3796C>T (p.Pro1266Ser)
c.*2685G>A (n.*2685G>A)
c.1946C>T
c.4779G>A (n.4779G>A)
c.3868C>T (p.Pro1290Ser)
c.1295C>T
c.1125C>T
n.184C>T
c.3931C>T (p.Pro1311Ser)
c.3877C>T (p.Pro1293Ser)
c.3523C>T (p.Pro1175Ser)
c.2212C>T (p.Pro738Ser)
 dbSNP gnomAD v2
1g.11787996C>ACA338469938C1orf167,MTHFRc.3311C>A (p.Pro1104His)
c.3797C>A (p.Pro1266His)
c.*2684G>T (n.*2684G>T)
c.1947C>A
c.4778G>T (n.4778G>T)
c.3869C>A (p.Pro1290His)
c.1296C>A
c.1126C>A
n.185C>A
c.3932C>A (p.Pro1311His)
c.3878C>A (p.Pro1293His)
c.3524C>A (p.Pro1175His)
c.2213C>A (p.Pro738His)
 gnomAD v4
1g.11787996C=CA1153786590C1orf167,MTHFRc.3311C= (p.Pro1104=)
c.3797C= (p.Pro1266=)
c.*2684G= (n.*2684G=)
c.1947C=
c.4778G= (n.4778G=)
c.3869C= (p.Pro1290=)
c.1296C=
c.1126C=
n.185C=
c.3932C= (p.Pro1311=)
c.3878C= (p.Pro1293=)
c.3524C= (p.Pro1175=)
c.2213C= (p.Pro738=)
1g.11787996C>GCA338469939C1orf167,MTHFRc.3311C>G (p.Pro1104Arg)
c.3797C>G (p.Pro1266Arg)
c.*2684G>C (n.*2684G>C)
c.1947C>G
c.4778G>C (n.4778G>C)
c.3869C>G (p.Pro1290Arg)
c.1296C>G
c.1126C>G
n.185C>G
c.3932C>G (p.Pro1311Arg)
c.3878C>G (p.Pro1293Arg)
c.3524C>G (p.Pro1175Arg)
c.2213C>G (p.Pro738Arg)
1g.11787996C>TCA338469940C1orf167,MTHFRc.3311C>T (p.Pro1104Leu)
c.3797C>T (p.Pro1266Leu)
c.*2684G>A (n.*2684G>A)
c.1947C>T
c.4778G>A (n.4778G>A)
c.3869C>T (p.Pro1290Leu)
c.1296C>T
c.1126C>T
n.185C>T
c.3932C>T (p.Pro1311Leu)
c.3878C>T (p.Pro1293Leu)
c.3524C>T (p.Pro1175Leu)
c.2213C>T (p.Pro738Leu)
 dbSNP
1g.11787996_11787997delCA2643295305C1orf167,MTHFRc.3311_3312del (p.Pro1104ArgfsTer13)
c.3797_3798del (p.Pro1266ArgfsTer13)
c.*2683_*2684del (n.*2683_*2684del)
c.1947_1948del
c.4777_4778del (n.4777_4778del)
c.3869_3870del (p.Pro1290ArgfsTer13)
c.1296_1297del
c.1126_1127del
n.185_186del
c.3932_3933del (p.Pro1311ArgfsTer13)
c.3878_3879del (p.Pro1293ArgfsTer13)
c.3524_3525del (p.Pro1175ArgfsTer13)
c.2213_2214del (p.Pro738ArgfsTer13)
 gnomAD v4
1g.11787997T>ACA416362021C1orf167,MTHFRc.3312T>A (p.Pro1104=)
c.3798T>A (p.Pro1266=)
c.*2683A>T (n.*2683A>T)
c.1948T>A
c.4777A>T (n.4777A>T)
c.3870T>A (p.Pro1290=)
c.1297T>A
c.1127T>A
n.186T>A
c.3933T>A (p.Pro1311=)
c.3879T>A (p.Pro1293=)
c.3525T>A (p.Pro1175=)
c.2214T>A (p.Pro738=)
 dbSNP
1g.11787997T>CCA595059C1orf167,MTHFRc.3312T>C (p.Pro1104=)
c.3798T>C (p.Pro1266=)
c.*2683A>G (n.*2683A>G)
c.1948T>C
c.4777A>G (n.4777A>G)
c.3870T>C (p.Pro1290=)
c.1297T>C
c.1127T>C
n.186T>C
c.3933T>C (p.Pro1311=)
c.3879T>C (p.Pro1293=)
c.3525T>C (p.Pro1175=)
c.2214T>C (p.Pro738=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11787997T>GCA416362025C1orf167,MTHFRc.3312T>G (p.Pro1104=)
c.3798T>G (p.Pro1266=)
c.*2683A>C (n.*2683A>C)
c.1948T>G
c.4777A>C (n.4777A>C)
c.3870T>G (p.Pro1290=)
c.1297T>G
c.1127T>G
n.186T>G
c.3933T>G (p.Pro1311=)
c.3879T>G (p.Pro1293=)
c.3525T>G (p.Pro1175=)
c.2214T>G (p.Pro738=)
1g.11787997T=CA1140534983C1orf167,MTHFRc.3312T= (p.Pro1104=)
c.3798T= (p.Pro1266=)
c.*2683A= (n.*2683A=)
c.1948T=
c.4777A= (n.4777A=)
c.3870T= (p.Pro1290=)
c.1297T=
c.1127T=
n.186T=
c.3933T= (p.Pro1311=)
c.3879T= (p.Pro1293=)
c.3525T= (p.Pro1175=)
c.2214T= (p.Pro738=)
1g.11787998G>ACA338469941C1orf167,MTHFRc.3313G>A (p.Glu1105Lys)
c.3799G>A (p.Glu1267Lys)
c.*2682C>T (n.*2682C>T)
c.1949G>A
c.4776C>T (n.4776C>T)
c.3871G>A (p.Glu1291Lys)
c.1298G>A
c.1128G>A
n.187G>A
c.3934G>A (p.Glu1312Lys)
c.3880G>A (p.Glu1294Lys)
c.3526G>A (p.Glu1176Lys)
c.2215G>A (p.Glu739Lys)
 dbSNP gnomAD v4 COSMIC COSMIC
1g.11787998G>CCA17996033C1orf167,MTHFRc.3313G>C (p.Glu1105Gln)
c.3799G>C (p.Glu1267Gln)
c.*2682C>G (n.*2682C>G)
c.1949G>C
c.4776C>G (n.4776C>G)
c.3871G>C (p.Glu1291Gln)
c.1298G>C
c.1128G>C
n.187G>C
c.3934G>C (p.Glu1312Gln)
c.3880G>C (p.Glu1294Gln)
c.3526G>C (p.Glu1176Gln)
c.2215G>C (p.Glu739Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11787998G=CA1146379366C1orf167,MTHFRc.3313G= (p.Glu1105=)
c.3799G= (p.Glu1267=)
c.*2682C= (n.*2682C=)
c.1949G=
c.4776C= (n.4776C=)
c.3871G= (p.Glu1291=)
c.1298G=
c.1128G=
n.187G=
c.3934G= (p.Glu1312=)
c.3880G= (p.Glu1294=)
c.3526G= (p.Glu1176=)
c.2215G= (p.Glu739=)
1g.11787998G>TCA338469942C1orf167,MTHFRc.3313G>T (p.Glu1105Ter)
c.3799G>T (p.Glu1267Ter)
c.*2682C>A (n.*2682C>A)
c.1949G>T
c.4776C>A (n.4776C>A)
c.3871G>T (p.Glu1291Ter)
c.1298G>T
c.1128G>T
n.187G>T
c.3934G>T (p.Glu1312Ter)
c.3880G>T (p.Glu1294Ter)
c.3526G>T (p.Glu1176Ter)
c.2215G>T (p.Glu739Ter)
 gnomAD v4
1g.11788003_11788009dupCA595060C1orf167,MTHFRc.3318_3324dup (p.Cys1109GlnfsTer11)
c.3804_3810dup (p.Cys1271GlnfsTer11)
c.*2676_*2682dup (n.*2676_*2682dup)
c.1954_1960dup
c.4770_4776dup (n.4770_4776dup)
c.3876_3882dup (p.Cys1295GlnfsTer11)
c.1303_1309dup
c.1133_1139dup
n.192_198dup
c.3939_3945dup (p.Cys1316GlnfsTer11)
c.3885_3891dup (p.Cys1298GlnfsTer11)
c.3531_3537dup (p.Cys1180GlnfsTer11)
c.2220_2226dup (p.Cys743GlnfsTer11)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11788003_11788009delCA2643295318C1orf167,MTHFRc.3318_3324del (p.Arg1107AlafsTer?)
c.3804_3810del (p.Arg1269AlafsTer?)
c.*2676_*2682del (n.*2676_*2682del)
c.1954_1960del
c.4770_4776del (n.4770_4776del)
c.3876_3882del (p.Arg1293AlafsTer?)
c.1303_1309del
c.1133_1139del
n.192_198del
c.3939_3945del (p.Arg1314AlafsTer?)
c.3885_3891del (p.Arg1296AlafsTer?)
c.3531_3537del (p.Arg1178AlafsTer?)
c.2220_2226del (p.Arg741AlafsTer?)
 gnomAD v4
1g.11787999A=CA1153786604C1orf167,MTHFRc.3314A= (p.Glu1105=)
c.3800A= (p.Glu1267=)
c.*2681T= (n.*2681T=)
c.1950A=
c.4775T= (n.4775T=)
c.3872A= (p.Glu1291=)
c.1299A=
c.1129A=
n.188A=
c.3935A= (p.Glu1312=)
c.3881A= (p.Glu1294=)
c.3527A= (p.Glu1176=)
c.2216A= (p.Glu739=)
1g.11787999A>CCA338469943C1orf167,MTHFRc.3314A>C (p.Glu1105Ala)
c.3800A>C (p.Glu1267Ala)
c.*2681T>G (n.*2681T>G)
c.1950A>C
c.4775T>G (n.4775T>G)
c.3872A>C (p.Glu1291Ala)
c.1299A>C
c.1129A>C
n.188A>C
c.3935A>C (p.Glu1312Ala)
c.3881A>C (p.Glu1294Ala)
c.3527A>C (p.Glu1176Ala)
c.2216A>C (p.Glu739Ala)
1g.11787999A>GCA338469944C1orf167,MTHFRc.3314A>G (p.Glu1105Gly)
c.3800A>G (p.Glu1267Gly)
c.*2681T>C (n.*2681T>C)
c.1950A>G
c.4775T>C (n.4775T>C)
c.3872A>G (p.Glu1291Gly)
c.1299A>G
c.1129A>G
n.188A>G
c.3935A>G (p.Glu1312Gly)
c.3881A>G (p.Glu1294Gly)
c.3527A>G (p.Glu1176Gly)
c.2216A>G (p.Glu739Gly)
 dbSNP gnomAD v2
1g.11787999A>TCA338469945C1orf167,MTHFRc.3314A>T (p.Glu1105Val)
c.3800A>T (p.Glu1267Val)
c.*2681T>A (n.*2681T>A)
c.1950A>T
c.4775T>A (n.4775T>A)
c.3872A>T (p.Glu1291Val)
c.1299A>T
c.1129A>T
n.188A>T
c.3935A>T (p.Glu1312Val)
c.3881A>T (p.Glu1294Val)
c.3527A>T (p.Glu1176Val)
c.2216A>T (p.Glu739Val)
1g.11788000G>ACA416362030C1orf167,MTHFRc.3315G>A (p.Glu1105=)
c.3801G>A (p.Glu1267=)
c.*2680C>T (n.*2680C>T)
c.1951G>A
c.4774C>T (n.4774C>T)
c.3873G>A (p.Glu1291=)
c.1300G>A
c.1130G>A
n.189G>A
c.3936G>A (p.Glu1312=)
c.3882G>A (p.Glu1294=)
c.3528G>A (p.Glu1176=)
c.2217G>A (p.Glu739=)
 gnomAD v4
1g.11788000G>CCA338469946C1orf167,MTHFRc.3315G>C (p.Glu1105Asp)
c.3801G>C (p.Glu1267Asp)
c.*2680C>G (n.*2680C>G)
c.1951G>C
c.4774C>G (n.4774C>G)
c.3873G>C (p.Glu1291Asp)
c.1300G>C
c.1130G>C
n.189G>C
c.3936G>C (p.Glu1312Asp)
c.3882G>C (p.Glu1294Asp)
c.3528G>C (p.Glu1176Asp)
c.2217G>C (p.Glu739Asp)
1g.11788000G>TCA338469947C1orf167,MTHFRc.3315G>T (p.Glu1105Asp)
c.3801G>T (p.Glu1267Asp)
c.*2680C>A (n.*2680C>A)
c.1951G>T
c.4774C>A (n.4774C>A)
c.3873G>T (p.Glu1291Asp)
c.1300G>T
c.1130G>T
n.189G>T
c.3936G>T (p.Glu1312Asp)
c.3882G>T (p.Glu1294Asp)
c.3528G>T (p.Glu1176Asp)
c.2217G>T (p.Glu739Asp)
1g.11788001C>ACA338469948C1orf167,MTHFRc.3316C>A (p.Pro1106Thr)
c.3802C>A (p.Pro1268Thr)
c.*2679G>T (n.*2679G>T)
c.1952C>A
c.4773G>T (n.4773G>T)
c.3874C>A (p.Pro1292Thr)
c.1301C>A
c.1131C>A
n.190C>A
c.3937C>A (p.Pro1313Thr)
c.3883C>A (p.Pro1295Thr)
c.3529C>A (p.Pro1177Thr)
c.2218C>A (p.Pro740Thr)
1g.11788001C>GCA338469950C1orf167,MTHFRc.3316C>G (p.Pro1106Ala)
c.3802C>G (p.Pro1268Ala)
c.*2679G>C (n.*2679G>C)
c.1952C>G
c.4773G>C (n.4773G>C)
c.3874C>G (p.Pro1292Ala)
c.1301C>G
c.1131C>G
n.190C>G
c.3937C>G (p.Pro1313Ala)
c.3883C>G (p.Pro1295Ala)
c.3529C>G (p.Pro1177Ala)
c.2218C>G (p.Pro740Ala)
1g.11788001C>TCA338469949C1orf167,MTHFRc.3316C>T (p.Pro1106Ser)
c.3802C>T (p.Pro1268Ser)
c.*2679G>A (n.*2679G>A)
c.1952C>T
c.4773G>A (n.4773G>A)
c.3874C>T (p.Pro1292Ser)
c.1301C>T
c.1131C>T
n.190C>T
c.3937C>T (p.Pro1313Ser)
c.3883C>T (p.Pro1295Ser)
c.3529C>T (p.Pro1177Ser)
c.2218C>T (p.Pro740Ser)
1g.11788002C>ACA338469951C1orf167,MTHFRc.3317C>A (p.Pro1106His)
c.3803C>A (p.Pro1268His)
c.*2678G>T (n.*2678G>T)
c.1953C>A
c.4772G>T (n.4772G>T)
c.3875C>A (p.Pro1292His)
c.1302C>A
c.1132C>A
n.191C>A
c.3938C>A (p.Pro1313His)
c.3884C>A (p.Pro1295His)
c.3530C>A (p.Pro1177His)
c.2219C>A (p.Pro740His)
 gnomAD v4
1g.11788002C>GCA338469952C1orf167,MTHFRc.3317C>G (p.Pro1106Arg)
c.3803C>G (p.Pro1268Arg)
c.*2678G>C (n.*2678G>C)
c.1953C>G
c.4772G>C (n.4772G>C)
c.3875C>G (p.Pro1292Arg)
c.1302C>G
c.1132C>G
n.191C>G
c.3938C>G (p.Pro1313Arg)
c.3884C>G (p.Pro1295Arg)
c.3530C>G (p.Pro1177Arg)
c.2219C>G (p.Pro740Arg)
1g.11788002C>TCA338469953C1orf167,MTHFRc.3317C>T (p.Pro1106Leu)
c.3803C>T (p.Pro1268Leu)
c.*2678G>A (n.*2678G>A)
c.1953C>T
c.4772G>A (n.4772G>A)
c.3875C>T (p.Pro1292Leu)
c.1302C>T
c.1132C>T
n.191C>T
c.3938C>T (p.Pro1313Leu)
c.3884C>T (p.Pro1295Leu)
c.3530C>T (p.Pro1177Leu)
c.2219C>T (p.Pro740Leu)
1g.11788003C>ACA416362034C1orf167,MTHFRc.3318C>A (p.Pro1106=)
c.3804C>A (p.Pro1268=)
c.*2677G>T (n.*2677G>T)
c.1954C>A
c.4771G>T (n.4771G>T)
c.3876C>A (p.Pro1292=)
c.1303C>A
c.1133C>A
n.192C>A
c.3939C>A (p.Pro1313=)
c.3885C>A (p.Pro1295=)
c.3531C>A (p.Pro1177=)
c.2220C>A (p.Pro740=)
 gnomAD v4
1g.11788003C=CA1153786606C1orf167,MTHFRc.3318C= (p.Pro1106=)
c.3804C= (p.Pro1268=)
c.*2677G= (n.*2677G=)
c.1954C=
c.4771G= (n.4771G=)
c.3876C= (p.Pro1292=)
c.1303C=
c.1133C=
n.192C=
c.3939C= (p.Pro1313=)
c.3885C= (p.Pro1295=)
c.3531C= (p.Pro1177=)
c.2220C= (p.Pro740=)
1g.11788003C>GCA416362035C1orf167,MTHFRc.3318C>G (p.Pro1106=)
c.3804C>G (p.Pro1268=)
c.*2677G>C (n.*2677G>C)
c.1954C>G
c.4771G>C (n.4771G>C)
c.3876C>G (p.Pro1292=)
c.1303C>G
c.1133C>G
n.192C>G
c.3939C>G (p.Pro1313=)
c.3885C>G (p.Pro1295=)
c.3531C>G (p.Pro1177=)
c.2220C>G (p.Pro740=)
1g.11788003C>TCA416362036C1orf167,MTHFRc.3318C>T (p.Pro1106=)
c.3804C>T (p.Pro1268=)
c.*2677G>A (n.*2677G>A)
c.1954C>T
c.4771G>A (n.4771G>A)
c.3876C>T (p.Pro1292=)
c.1303C>T
c.1133C>T
n.192C>T
c.3939C>T (p.Pro1313=)
c.3885C>T (p.Pro1295=)
c.3531C>T (p.Pro1177=)
c.2220C>T (p.Pro740=)
 dbSNP
1g.11788004A=CA1153786610C1orf167,MTHFRc.3319A= (p.Arg1107=)
c.3805A= (p.Arg1269=)
c.*2676T= (n.*2676T=)
c.1955A=
c.4770T= (n.4770T=)
c.3877A= (p.Arg1293=)
c.1304A=
c.1134A=
n.193A=
c.3940A= (p.Arg1314=)
c.3886A= (p.Arg1296=)
c.3532A= (p.Arg1178=)
c.2221A= (p.Arg741=)
1g.11788004A>CCA416362037C1orf167,MTHFRc.3319A>C (p.Arg1107=)
c.3805A>C (p.Arg1269=)
c.*2676T>G (n.*2676T>G)
c.1955A>C
c.4770T>G (n.4770T>G)
c.3877A>C (p.Arg1293=)
c.1304A>C
c.1134A>C
n.193A>C
c.3940A>C (p.Arg1314=)
c.3886A>C (p.Arg1296=)
c.3532A>C (p.Arg1178=)
c.2221A>C (p.Arg741=)
1g.11788004A>GCA595061C1orf167,MTHFRc.3319A>G (p.Arg1107Gly)
c.3805A>G (p.Arg1269Gly)
c.*2676T>C (n.*2676T>C)
c.1955A>G
c.4770T>C (n.4770T>C)
c.3877A>G (p.Arg1293Gly)
c.1304A>G
c.1134A>G
n.193A>G
c.3940A>G (p.Arg1314Gly)
c.3886A>G (p.Arg1296Gly)
c.3532A>G (p.Arg1178Gly)
c.2221A>G (p.Arg741Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11788004A>TCA338469954C1orf167,MTHFRc.3319A>T (p.Arg1107Ter)
c.3805A>T (p.Arg1269Ter)
c.*2676T>A (n.*2676T>A)
c.1955A>T
c.4770T>A (n.4770T>A)
c.3877A>T (p.Arg1293Ter)
c.1304A>T
c.1134A>T
n.193A>T
c.3940A>T (p.Arg1314Ter)
c.3886A>T (p.Arg1296Ter)
c.3532A>T (p.Arg1178Ter)
c.2221A>T (p.Arg741Ter)
1g.11788005G>ACA338469955C1orf167,MTHFRc.3320G>A (p.Arg1107Lys)
c.3806G>A (p.Arg1269Lys)
c.*2675C>T (n.*2675C>T)
c.1956G>A
c.4769C>T (n.4769C>T)
c.3878G>A (p.Arg1293Lys)
c.1305G>A
c.1135G>A
n.194G>A
c.3941G>A (p.Arg1314Lys)
c.3887G>A (p.Arg1296Lys)
c.3533G>A (p.Arg1178Lys)
c.2222G>A (p.Arg741Lys)
1g.11788005G>CCA338469956C1orf167,MTHFRc.3320G>C (p.Arg1107Thr)
c.3806G>C (p.Arg1269Thr)
c.*2675C>G (n.*2675C>G)
c.1956G>C
c.4769C>G (n.4769C>G)
c.3878G>C (p.Arg1293Thr)
c.1305G>C
c.1135G>C
n.194G>C
c.3941G>C (p.Arg1314Thr)
c.3887G>C (p.Arg1296Thr)
c.3533G>C (p.Arg1178Thr)
c.2222G>C (p.Arg741Thr)
 gnomAD v4
1g.11788005G>TCA338469957C1orf167,MTHFRc.3320G>T (p.Arg1107Ile)
c.3806G>T (p.Arg1269Ile)
c.*2675C>A (n.*2675C>A)
c.1956G>T
c.4769C>A (n.4769C>A)
c.3878G>T (p.Arg1293Ile)
c.1305G>T
c.1135G>T
n.194G>T
c.3941G>T (p.Arg1314Ile)
c.3887G>T (p.Arg1296Ile)
c.3533G>T (p.Arg1178Ile)
c.2222G>T (p.Arg741Ile)
1g.11788006A=CA1153786615C1orf167,MTHFRc.3321A= (p.Arg1107=)
c.3807A= (p.Arg1269=)
c.*2674T= (n.*2674T=)
c.1957A=
c.4768T= (n.4768T=)
c.3879A= (p.Arg1293=)
c.1306A=
c.1136A=
n.195A=
c.3942A= (p.Arg1314=)
c.3888A= (p.Arg1296=)
c.3534A= (p.Arg1178=)
c.2223A= (p.Arg741=)
1g.11788006A>CCA338469958C1orf167,MTHFRc.3321A>C (p.Arg1107Ser)
c.3807A>C (p.Arg1269Ser)
c.*2674T>G (n.*2674T>G)
c.1957A>C
c.4768T>G (n.4768T>G)
c.3879A>C (p.Arg1293Ser)
c.1306A>C
c.1136A>C
n.195A>C
c.3942A>C (p.Arg1314Ser)
c.3888A>C (p.Arg1296Ser)
c.3534A>C (p.Arg1178Ser)
c.2223A>C (p.Arg741Ser)
1g.11788006A>GCA17996039C1orf167,MTHFRc.3321A>G (p.Arg1107=)
c.3807A>G (p.Arg1269=)
c.*2674T>C (n.*2674T>C)
c.1957A>G
c.4768T>C (n.4768T>C)
c.3879A>G (p.Arg1293=)
c.1306A>G
c.1136A>G
n.195A>G
c.3942A>G (p.Arg1314=)
c.3888A>G (p.Arg1296=)
c.3534A>G (p.Arg1178=)
c.2223A>G (p.Arg741=)
 dbSNP gnomAD v4
1g.11788006A>TCA338469959C1orf167,MTHFRc.3321A>T (p.Arg1107Ser)
c.3807A>T (p.Arg1269Ser)
c.*2674T>A (n.*2674T>A)
c.1957A>T
c.4768T>A (n.4768T>A)
c.3879A>T (p.Arg1293Ser)
c.1306A>T
c.1136A>T
n.195A>T
c.3942A>T (p.Arg1314Ser)
c.3888A>T (p.Arg1296Ser)
c.3534A>T (p.Arg1178Ser)
c.2223A>T (p.Arg741Ser)
1g.11788007G>ACA338469962C1orf167,MTHFRc.3322G>A (p.Ala1108Thr)
c.3808G>A (p.Ala1270Thr)
c.*2673C>T (n.*2673C>T)
c.1958G>A
c.4767C>T (n.4767C>T)
c.3880G>A (p.Ala1294Thr)
c.1307G>A
c.1137G>A
n.196G>A
c.3943G>A (p.Ala1315Thr)
c.3889G>A (p.Ala1297Thr)
c.3535G>A (p.Ala1179Thr)
c.2224G>A (p.Ala742Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.11788007G>CCA338469961C1orf167,MTHFRc.3322G>C (p.Ala1108Pro)
c.3808G>C (p.Ala1270Pro)
c.*2673C>G (n.*2673C>G)
c.1958G>C
c.4767C>G (n.4767C>G)
c.3880G>C (p.Ala1294Pro)
c.1307G>C
c.1137G>C
n.196G>C
c.3943G>C (p.Ala1315Pro)
c.3889G>C (p.Ala1297Pro)
c.3535G>C (p.Ala1179Pro)
c.2224G>C (p.Ala742Pro)
1g.11788007G=CA1153786618C1orf167,MTHFRc.3322G= (p.Ala1108=)
c.3808G= (p.Ala1270=)
c.*2673C= (n.*2673C=)
c.1958G=
c.4767C= (n.4767C=)
c.3880G= (p.Ala1294=)
c.1307G=
c.1137G=
n.196G=
c.3943G= (p.Ala1315=)
c.3889G= (p.Ala1297=)
c.3535G= (p.Ala1179=)
c.2224G= (p.Ala742=)
1g.11788007G>TCA338469960C1orf167,MTHFRc.3322G>T (p.Ala1108Ser)
c.3808G>T (p.Ala1270Ser)
c.*2673C>A (n.*2673C>A)
c.1958G>T
c.4767C>A (n.4767C>A)
c.3880G>T (p.Ala1294Ser)
c.1307G>T
c.1137G>T
n.196G>T
c.3943G>T (p.Ala1315Ser)
c.3889G>T (p.Ala1297Ser)
c.3535G>T (p.Ala1179Ser)
c.2224G>T (p.Ala742Ser)
 gnomAD v4
1g.11788008C>ACA338469964C1orf167,MTHFRc.3323C>A (p.Ala1108Asp)
c.3809C>A (p.Ala1270Asp)
c.*2672G>T (n.*2672G>T)
c.1959C>A
c.4766G>T (n.4766G>T)
c.3881C>A (p.Ala1294Asp)
c.1308C>A
c.1138C>A
n.197C>A
c.3944C>A (p.Ala1315Asp)
c.3890C>A (p.Ala1297Asp)
c.3536C>A (p.Ala1179Asp)
c.2225C>A (p.Ala742Asp)
 dbSNP gnomAD v4
1g.11788008C=CA1153786620C1orf167,MTHFRc.3323C= (p.Ala1108=)
c.3809C= (p.Ala1270=)
c.*2672G= (n.*2672G=)
c.1959C=
c.4766G= (n.4766G=)
c.3881C= (p.Ala1294=)
c.1308C=
c.1138C=
n.197C=
c.3944C= (p.Ala1315=)
c.3890C= (p.Ala1297=)
c.3536C= (p.Ala1179=)
c.2225C= (p.Ala742=)
1g.11788008C>GCA17996040C1orf167,MTHFRc.3323C>G (p.Ala1108Gly)
c.3809C>G (p.Ala1270Gly)
c.*2672G>C (n.*2672G>C)
c.1959C>G
c.4766G>C (n.4766G>C)
c.3881C>G (p.Ala1294Gly)
c.1308C>G
c.1138C>G
n.197C>G
c.3944C>G (p.Ala1315Gly)
c.3890C>G (p.Ala1297Gly)
c.3536C>G (p.Ala1179Gly)
c.2225C>G (p.Ala742Gly)
 dbSNP gnomAD v4
1g.11788008C>TCA338469963C1orf167,MTHFRc.3323C>T (p.Ala1108Val)
c.3809C>T (p.Ala1270Val)
c.*2672G>A (n.*2672G>A)
c.1959C>T
c.4766G>A (n.4766G>A)
c.3881C>T (p.Ala1294Val)
c.1308C>T
c.1138C>T
n.197C>T
c.3944C>T (p.Ala1315Val)
c.3890C>T (p.Ala1297Val)
c.3536C>T (p.Ala1179Val)
c.2225C>T (p.Ala742Val)
 dbSNP gnomAD v2
1g.11788009C>ACA17996051C1orf167,MTHFRc.3324C>A (p.Ala1108=)
c.3810C>A (p.Ala1270=)
c.*2671G>T (n.*2671G>T)
c.1960C>A
c.4765G>T (n.4765G>T)
c.3882C>A (p.Ala1294=)
c.1309C>A
c.1139C>A
n.198C>A
c.3945C>A (p.Ala1315=)
c.3891C>A (p.Ala1297=)
c.3537C>A (p.Ala1179=)
c.2226C>A (p.Ala742=)
 dbSNP gnomAD v3 gnomAD v4
1g.11788009C=CA1144347445C1orf167,MTHFRc.3324C= (p.Ala1108=)
c.3810C= (p.Ala1270=)
c.*2671G= (n.*2671G=)
c.1960C=
c.4765G= (n.4765G=)
c.3882C= (p.Ala1294=)
c.1309C=
c.1139C=
n.198C=
c.3945C= (p.Ala1315=)
c.3891C= (p.Ala1297=)
c.3537C= (p.Ala1179=)
c.2226C= (p.Ala742=)
1g.11788009C>GCA416362043C1orf167,MTHFRc.3324C>G (p.Ala1108=)
c.3810C>G (p.Ala1270=)
c.*2671G>C (n.*2671G>C)
c.1960C>G
c.4765G>C (n.4765G>C)
c.3882C>G (p.Ala1294=)
c.1309C>G
c.1139C>G
n.198C>G
c.3945C>G (p.Ala1315=)
c.3891C>G (p.Ala1297=)
c.3537C>G (p.Ala1179=)
c.2226C>G (p.Ala742=)
1g.11788009C>TCA416362045C1orf167,MTHFRc.3324C>T (p.Ala1108=)
c.3810C>T (p.Ala1270=)
c.*2671G>A (n.*2671G>A)
c.1960C>T
c.4765G>A (n.4765G>A)
c.3882C>T (p.Ala1294=)
c.1309C>T
c.1139C>T
n.198C>T
c.3945C>T (p.Ala1315=)
c.3891C>T (p.Ala1297=)
c.3537C>T (p.Ala1179=)
c.2226C>T (p.Ala742=)
1g.11788010T>ACA338469966C1orf167,MTHFRc.3325T>A (p.Cys1109Ser)
c.3811T>A (p.Cys1271Ser)
c.*2670A>T (n.*2670A>T)
c.1961T>A
c.4764A>T (n.4764A>T)
c.3883T>A (p.Cys1295Ser)
c.1310T>A
c.1140T>A
n.199T>A
c.3946T>A (p.Cys1316Ser)
c.3892T>A (p.Cys1298Ser)
c.3538T>A (p.Cys1180Ser)
c.2227T>A (p.Cys743Ser)
1g.11788010T>CCA338469967C1orf167,MTHFRc.3325T>C (p.Cys1109Arg)
c.3811T>C (p.Cys1271Arg)
c.*2670A>G (n.*2670A>G)
c.1961T>C
c.4764A>G (n.4764A>G)
c.3883T>C (p.Cys1295Arg)
c.1310T>C
c.1140T>C
n.199T>C
c.3946T>C (p.Cys1316Arg)
c.3892T>C (p.Cys1298Arg)
c.3538T>C (p.Cys1180Arg)
c.2227T>C (p.Cys743Arg)
 gnomAD v4
1g.11788010T>GCA338469968C1orf167,MTHFRc.3325T>G (p.Cys1109Gly)
c.3811T>G (p.Cys1271Gly)
c.*2670A>C (n.*2670A>C)
c.1961T>G
c.4764A>C (n.4764A>C)
c.3883T>G (p.Cys1295Gly)
c.1310T>G
c.1140T>G
n.199T>G
c.3946T>G (p.Cys1316Gly)
c.3892T>G (p.Cys1298Gly)
c.3538T>G (p.Cys1180Gly)
c.2227T>G (p.Cys743Gly)
1g.11788010_11788025delCA2574214321C1orf167,MTHFRc.3325_3340del (p.Cys1109ArgfsTer25)
c.3811_3826del (p.Cys1271ArgfsTer30)
c.*2655_*2670del (n.*2655_*2670del)
c.1961_1976del
c.4749_4764del (n.4749_4764del)
c.3883_3898del (p.Cys1295ArgfsTer25)
c.1310_1325del
c.1140_1155del
n.199_214del
c.3946_3961del (p.Cys1316ArgfsTer30)
c.3892_3907del (p.Cys1298ArgfsTer30)
c.3946_3961del (p.Cys1316ArgfsTer?)
c.3538_3553del (p.Cys1180ArgfsTer30)
c.2227_2242del (p.Cys743ArgfsTer30)
1g.11788011G>ACA338469970C1orf167,MTHFRc.3326G>A (p.Cys1109Tyr)
c.3812G>A (p.Cys1271Tyr)
c.*2669C>T (n.*2669C>T)
c.1962G>A
c.4763C>T (n.4763C>T)
c.3884G>A (p.Cys1295Tyr)
c.1311G>A
c.1141G>A
n.200G>A
c.3947G>A (p.Cys1316Tyr)
c.3893G>A (p.Cys1298Tyr)
c.3539G>A (p.Cys1180Tyr)
c.2228G>A (p.Cys743Tyr)
 gnomAD v4
1g.11788011G>CCA595062C1orf167,MTHFRc.3326G>C (p.Cys1109Ser)
c.3812G>C (p.Cys1271Ser)
c.*2669C>G (n.*2669C>G)
c.1962G>C
c.4763C>G (n.4763C>G)
c.3884G>C (p.Cys1295Ser)
c.1311G>C
c.1141G>C
n.200G>C
c.3947G>C (p.Cys1316Ser)
c.3893G>C (p.Cys1298Ser)
c.3539G>C (p.Cys1180Ser)
c.2228G>C (p.Cys743Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11788011G=CA1139878581C1orf167,MTHFRc.3326G= (p.Cys1109=)
c.3812G= (p.Cys1271=)
c.*2669C= (n.*2669C=)
c.1962G=
c.4763C= (n.4763C=)
c.3884G= (p.Cys1295=)
c.1311G=
c.1141G=
n.200G=
c.3947G= (p.Cys1316=)
c.3893G= (p.Cys1298=)
c.3539G= (p.Cys1180=)
c.2228G= (p.Cys743=)
1g.11788011G>TCA338469969C1orf167,MTHFRc.3326G>T (p.Cys1109Phe)
c.3812G>T (p.Cys1271Phe)
c.*2669C>A (n.*2669C>A)
c.1962G>T
c.4763C>A (n.4763C>A)
c.3884G>T (p.Cys1295Phe)
c.1311G>T
c.1141G>T
n.200G>T
c.3947G>T (p.Cys1316Phe)
c.3893G>T (p.Cys1298Phe)
c.3539G>T (p.Cys1180Phe)
c.2228G>T (p.Cys743Phe)
1g.11788015_11788026delCA2643295367C1orf167,MTHFRc.3330_3341del (p.Ala1111_Lys1114del)
c.3816_3827del (p.Ala1273_Lys1276del)
c.*2658_*2669del (n.*2658_*2669del)
c.1966_1977del
c.4752_4763del (n.4752_4763del)
c.3888_3899del (p.Ala1297_Lys1300del)
c.1315_1326del
c.1145_1156del
n.204_215del
c.3951_3962del (p.Ala1318_Lys1321del)
c.3897_3908del (p.Ala1300_Lys1303del)
c.3543_3554del (p.Ala1182_Lys1185del)
c.2232_2243del (p.Ala745_Lys748del)
 gnomAD v4
1g.11788012C>ACA338469971C1orf167,MTHFRc.3327C>A (p.Cys1109Ter)
c.3813C>A (p.Cys1271Ter)
c.*2668G>T (n.*2668G>T)
c.1963C>A
c.4762G>T (n.4762G>T)
c.3885C>A (p.Cys1295Ter)
c.1312C>A
c.1142C>A
n.201C>A
c.3948C>A (p.Cys1316Ter)
c.3894C>A (p.Cys1298Ter)
c.3540C>A (p.Cys1180Ter)
c.2229C>A (p.Cys743Ter)
 gnomAD v4
1g.11788012C=CA1153786629C1orf167,MTHFRc.3327C= (p.Cys1109=)
c.3813C= (p.Cys1271=)
c.*2668G= (n.*2668G=)
c.1963C=
c.4762G= (n.4762G=)
c.3885C= (p.Cys1295=)
c.1312C=
c.1142C=
n.201C=
c.3948C= (p.Cys1316=)
c.3894C= (p.Cys1298=)
c.3540C= (p.Cys1180=)
c.2229C= (p.Cys743=)
1g.11788012C>GCA338469972C1orf167,MTHFRc.3327C>G (p.Cys1109Trp)
c.3813C>G (p.Cys1271Trp)
c.*2668G>C (n.*2668G>C)
c.1963C>G
c.4762G>C (n.4762G>C)
c.3885C>G (p.Cys1295Trp)
c.1312C>G
c.1142C>G
n.201C>G
c.3948C>G (p.Cys1316Trp)
c.3894C>G (p.Cys1298Trp)
c.3540C>G (p.Cys1180Trp)
c.2229C>G (p.Cys743Trp)
 dbSNP gnomAD v3 gnomAD v4
1g.11788012C>TCA416362049C1orf167,MTHFRc.3327C>T (p.Cys1109=)
c.3813C>T (p.Cys1271=)
c.*2668G>A (n.*2668G>A)
c.1963C>T
c.4762G>A (n.4762G>A)
c.3885C>T (p.Cys1295=)
c.1312C>T
c.1142C>T
n.201C>T
c.3948C>T (p.Cys1316=)
c.3894C>T (p.Cys1298=)
c.3540C>T (p.Cys1180=)
c.2229C>T (p.Cys743=)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched