Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
1g.11788013A=CA1153786632C1orf167,MTHFRc.3328A= (p.Lys1110=)
c.3814A= (p.Lys1272=)
c.*2667T= (n.*2667T=)
c.1964A=
c.4761T= (n.4761T=)
c.3886A= (p.Lys1296=)
c.1313A=
c.1143A=
n.202A=
c.3949A= (p.Lys1317=)
c.3895A= (p.Lys1299=)
c.3541A= (p.Lys1181=)
c.2230A= (p.Lys744=)
1g.11788013A>CCA338469973C1orf167,MTHFRc.3328A>C (p.Lys1110Gln)
c.3814A>C (p.Lys1272Gln)
c.*2667T>G (n.*2667T>G)
c.1964A>C
c.4761T>G (n.4761T>G)
c.3886A>C (p.Lys1296Gln)
c.1313A>C
c.1143A>C
n.202A>C
c.3949A>C (p.Lys1317Gln)
c.3895A>C (p.Lys1299Gln)
c.3541A>C (p.Lys1181Gln)
c.2230A>C (p.Lys744Gln)
1g.11788013A>GCA338469974C1orf167,MTHFRc.3328A>G (p.Lys1110Glu)
c.3814A>G (p.Lys1272Glu)
c.*2667T>C (n.*2667T>C)
c.1964A>G
c.4761T>C (n.4761T>C)
c.3886A>G (p.Lys1296Glu)
c.1313A>G
c.1143A>G
n.202A>G
c.3949A>G (p.Lys1317Glu)
c.3895A>G (p.Lys1299Glu)
c.3541A>G (p.Lys1181Glu)
c.2230A>G (p.Lys744Glu)
 dbSNP gnomAD v4
1g.11788013A>TCA338469975C1orf167,MTHFRc.3328A>T (p.Lys1110Ter)
c.3814A>T (p.Lys1272Ter)
c.*2667T>A (n.*2667T>A)
c.1964A>T
c.4761T>A (n.4761T>A)
c.3886A>T (p.Lys1296Ter)
c.1313A>T
c.1143A>T
n.202A>T
c.3949A>T (p.Lys1317Ter)
c.3895A>T (p.Lys1299Ter)
c.3541A>T (p.Lys1181Ter)
c.2230A>T (p.Lys744Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788014A=CA1153786636C1orf167,MTHFRc.3329A= (p.Lys1110=)
c.3815A= (p.Lys1272=)
c.*2666T= (n.*2666T=)
c.1965A=
c.4760T= (n.4760T=)
c.3887A= (p.Lys1296=)
c.1314A=
c.1144A=
n.203A=
c.3950A= (p.Lys1317=)
c.3896A= (p.Lys1299=)
c.3542A= (p.Lys1181=)
c.2231A= (p.Lys744=)
1g.11788014A>CCA338469976C1orf167,MTHFRc.3329A>C (p.Lys1110Thr)
c.3815A>C (p.Lys1272Thr)
c.*2666T>G (n.*2666T>G)
c.1965A>C
c.4760T>G (n.4760T>G)
c.3887A>C (p.Lys1296Thr)
c.1314A>C
c.1144A>C
n.203A>C
c.3950A>C (p.Lys1317Thr)
c.3896A>C (p.Lys1299Thr)
c.3542A>C (p.Lys1181Thr)
c.2231A>C (p.Lys744Thr)
1g.11788014A>GCA338469978C1orf167,MTHFRc.3329A>G (p.Lys1110Arg)
c.3815A>G (p.Lys1272Arg)
c.*2666T>C (n.*2666T>C)
c.1965A>G
c.4760T>C (n.4760T>C)
c.3887A>G (p.Lys1296Arg)
c.1314A>G
c.1144A>G
n.203A>G
c.3950A>G (p.Lys1317Arg)
c.3896A>G (p.Lys1299Arg)
c.3542A>G (p.Lys1181Arg)
c.2231A>G (p.Lys744Arg)
 dbSNP
1g.11788014A>TCA338469977C1orf167,MTHFRc.3329A>T (p.Lys1110Ile)
c.3815A>T (p.Lys1272Ile)
c.*2666T>A (n.*2666T>A)
c.1965A>T
c.4760T>A (n.4760T>A)
c.3887A>T (p.Lys1296Ile)
c.1314A>T
c.1144A>T
n.203A>T
c.3950A>T (p.Lys1317Ile)
c.3896A>T (p.Lys1299Ile)
c.3542A>T (p.Lys1181Ile)
c.2231A>T (p.Lys744Ile)
1g.11788015A>CCA338469979C1orf167,MTHFRc.3330A>C (p.Lys1110Asn)
c.3816A>C (p.Lys1272Asn)
c.*2665T>G (n.*2665T>G)
c.1966A>C
c.4759T>G (n.4759T>G)
c.3888A>C (p.Lys1296Asn)
c.1315A>C
c.1145A>C
n.204A>C
c.3951A>C (p.Lys1317Asn)
c.3897A>C (p.Lys1299Asn)
c.3543A>C (p.Lys1181Asn)
c.2232A>C (p.Lys744Asn)
1g.11788015A>GCA416362055C1orf167,MTHFRc.3330A>G (p.Lys1110=)
c.3816A>G (p.Lys1272=)
c.*2665T>C (n.*2665T>C)
c.1966A>G
c.4759T>C (n.4759T>C)
c.3888A>G (p.Lys1296=)
c.1315A>G
c.1145A>G
n.204A>G
c.3951A>G (p.Lys1317=)
c.3897A>G (p.Lys1299=)
c.3543A>G (p.Lys1181=)
c.2232A>G (p.Lys744=)
1g.11788015A>TCA338469980C1orf167,MTHFRc.3330A>T (p.Lys1110Asn)
c.3816A>T (p.Lys1272Asn)
c.*2665T>A (n.*2665T>A)
c.1966A>T
c.4759T>A (n.4759T>A)
c.3888A>T (p.Lys1296Asn)
c.1315A>T
c.1145A>T
n.204A>T
c.3951A>T (p.Lys1317Asn)
c.3897A>T (p.Lys1299Asn)
c.3543A>T (p.Lys1181Asn)
c.2232A>T (p.Lys744Asn)
1g.11788016G>ACA338469981C1orf167,MTHFRc.3331G>A (p.Ala1111Thr)
c.3817G>A (p.Ala1273Thr)
c.*2664C>T (n.*2664C>T)
c.1967G>A
c.4758C>T (n.4758C>T)
c.3889G>A (p.Ala1297Thr)
c.1316G>A
c.1146G>A
n.205G>A
c.3952G>A (p.Ala1318Thr)
c.3898G>A (p.Ala1300Thr)
c.3544G>A (p.Ala1182Thr)
c.2233G>A (p.Ala745Thr)
1g.11788016G>CCA338469982C1orf167,MTHFRc.3331G>C (p.Ala1111Pro)
c.3817G>C (p.Ala1273Pro)
c.*2664C>G (n.*2664C>G)
c.1967G>C
c.4758C>G (n.4758C>G)
c.3889G>C (p.Ala1297Pro)
c.1316G>C
c.1146G>C
n.205G>C
c.3952G>C (p.Ala1318Pro)
c.3898G>C (p.Ala1300Pro)
c.3544G>C (p.Ala1182Pro)
c.2233G>C (p.Ala745Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.11788016G=CA1153786640C1orf167,MTHFRc.3331G= (p.Ala1111=)
c.3817G= (p.Ala1273=)
c.*2664C= (n.*2664C=)
c.1967G=
c.4758C= (n.4758C=)
c.3889G= (p.Ala1297=)
c.1316G=
c.1146G=
n.205G=
c.3952G= (p.Ala1318=)
c.3898G= (p.Ala1300=)
c.3544G= (p.Ala1182=)
c.2233G= (p.Ala745=)
1g.11788016G>TCA338469983C1orf167,MTHFRc.3331G>T (p.Ala1111Ser)
c.3817G>T (p.Ala1273Ser)
c.*2664C>A (n.*2664C>A)
c.1967G>T
c.4758C>A (n.4758C>A)
c.3889G>T (p.Ala1297Ser)
c.1316G>T
c.1146G>T
n.205G>T
c.3952G>T (p.Ala1318Ser)
c.3898G>T (p.Ala1300Ser)
c.3544G>T (p.Ala1182Ser)
c.2233G>T (p.Ala745Ser)
 dbSNP
1g.11788017C>ACA338469984C1orf167,MTHFRc.3332C>A (p.Ala1111Asp)
c.3818C>A (p.Ala1273Asp)
c.*2663G>T (n.*2663G>T)
c.1968C>A
c.4757G>T (n.4757G>T)
c.3890C>A (p.Ala1297Asp)
c.1317C>A
c.1147C>A
n.206C>A
c.3953C>A (p.Ala1318Asp)
c.3899C>A (p.Ala1300Asp)
c.3545C>A (p.Ala1182Asp)
c.2234C>A (p.Ala745Asp)
 gnomAD v4
1g.11788017C>GCA338469985C1orf167,MTHFRc.3332C>G (p.Ala1111Gly)
c.3818C>G (p.Ala1273Gly)
c.*2663G>C (n.*2663G>C)
c.1968C>G
c.4757G>C (n.4757G>C)
c.3890C>G (p.Ala1297Gly)
c.1317C>G
c.1147C>G
n.206C>G
c.3953C>G (p.Ala1318Gly)
c.3899C>G (p.Ala1300Gly)
c.3545C>G (p.Ala1182Gly)
c.2234C>G (p.Ala745Gly)
1g.11788017C>TCA338469986C1orf167,MTHFRc.3332C>T (p.Ala1111Val)
c.3818C>T (p.Ala1273Val)
c.*2663G>A (n.*2663G>A)
c.1968C>T
c.4757G>A (n.4757G>A)
c.3890C>T (p.Ala1297Val)
c.1317C>T
c.1147C>T
n.206C>T
c.3953C>T (p.Ala1318Val)
c.3899C>T (p.Ala1300Val)
c.3545C>T (p.Ala1182Val)
c.2234C>T (p.Ala745Val)
1g.11788019delCA2742479568C1orf167,MTHFRc.3334del (p.Gln1112LysfsTer27)
c.3820del (p.Gln1274LysfsTer?)
c.*2663del (n.*2663del)
c.1970del
c.4757del (n.4757del)
c.3892del (p.Gln1298LysfsTer27)
c.1319del
c.1149del
n.208del
c.3955del (p.Gln1319LysfsTer?)
c.3901del (p.Gln1301LysfsTer?)
c.3547del (p.Gln1183LysfsTer?)
c.2236del (p.Gln746LysfsTer?)
1g.11788018C>ACA416362060C1orf167,MTHFRc.3333C>A (p.Ala1111=)
c.3819C>A (p.Ala1273=)
c.*2662G>T (n.*2662G>T)
c.1969C>A
c.4756G>T (n.4756G>T)
c.3891C>A (p.Ala1297=)
c.1318C>A
c.1148C>A
n.207C>A
c.3954C>A (p.Ala1318=)
c.3900C>A (p.Ala1300=)
c.3546C>A (p.Ala1182=)
c.2235C>A (p.Ala745=)
 gnomAD v4
1g.11788018C>GCA416362062C1orf167,MTHFRc.3333C>G (p.Ala1111=)
c.3819C>G (p.Ala1273=)
c.*2662G>C (n.*2662G>C)
c.1969C>G
c.4756G>C (n.4756G>C)
c.3891C>G (p.Ala1297=)
c.1318C>G
c.1148C>G
n.207C>G
c.3954C>G (p.Ala1318=)
c.3900C>G (p.Ala1300=)
c.3546C>G (p.Ala1182=)
c.2235C>G (p.Ala745=)
1g.11788018C>TCA416362065C1orf167,MTHFRc.3333C>T (p.Ala1111=)
c.3819C>T (p.Ala1273=)
c.*2662G>A (n.*2662G>A)
c.1969C>T
c.4756G>A (n.4756G>A)
c.3891C>T (p.Ala1297=)
c.1318C>T
c.1148C>T
n.207C>T
c.3954C>T (p.Ala1318=)
c.3900C>T (p.Ala1300=)
c.3546C>T (p.Ala1182=)
c.2235C>T (p.Ala745=)
1g.11788019C>ACA338469987C1orf167,MTHFRc.3334C>A (p.Gln1112Lys)
c.3820C>A (p.Gln1274Lys)
c.*2661G>T (n.*2661G>T)
c.1970C>A
c.4755G>T (n.4755G>T)
c.3892C>A (p.Gln1298Lys)
c.1319C>A
c.1149C>A
n.208C>A
c.3955C>A (p.Gln1319Lys)
c.3901C>A (p.Gln1301Lys)
c.3547C>A (p.Gln1183Lys)
c.2236C>A (p.Gln746Lys)
1g.11788019C=CA1153786643C1orf167,MTHFRc.3334C= (p.Gln1112=)
c.3820C= (p.Gln1274=)
c.*2661G= (n.*2661G=)
c.1970C=
c.4755G= (n.4755G=)
c.3892C= (p.Gln1298=)
c.1319C=
c.1149C=
n.208C=
c.3955C= (p.Gln1319=)
c.3901C= (p.Gln1301=)
c.3547C= (p.Gln1183=)
c.2236C= (p.Gln746=)
1g.11788019C>GCA338469988C1orf167,MTHFRc.3334C>G (p.Gln1112Glu)
c.3820C>G (p.Gln1274Glu)
c.*2661G>C (n.*2661G>C)
c.1970C>G
c.4755G>C (n.4755G>C)
c.3892C>G (p.Gln1298Glu)
c.1319C>G
c.1149C>G
n.208C>G
c.3955C>G (p.Gln1319Glu)
c.3901C>G (p.Gln1301Glu)
c.3547C>G (p.Gln1183Glu)
c.2236C>G (p.Gln746Glu)
1g.11788019C>TCA17996080C1orf167,MTHFRc.3334C>T (p.Gln1112Ter)
c.3820C>T (p.Gln1274Ter)
c.*2661G>A (n.*2661G>A)
c.1970C>T
c.4755G>A (n.4755G>A)
c.3892C>T (p.Gln1298Ter)
c.1319C>T
c.1149C>T
n.208C>T
c.3955C>T (p.Gln1319Ter)
c.3901C>T (p.Gln1301Ter)
c.3547C>T (p.Gln1183Ter)
c.2236C>T (p.Gln746Ter)
 dbSNP
1g.11788020A>CCA338469990C1orf167,MTHFRc.3335A>C (p.Gln1112Pro)
c.3821A>C (p.Gln1274Pro)
c.*2660T>G (n.*2660T>G)
c.1971A>C
c.4754T>G (n.4754T>G)
c.3893A>C (p.Gln1298Pro)
c.1320A>C
c.1150A>C
n.209A>C
c.3956A>C (p.Gln1319Pro)
c.3902A>C (p.Gln1301Pro)
c.3548A>C (p.Gln1183Pro)
c.2237A>C (p.Gln746Pro)
1g.11788020A>GCA338469991C1orf167,MTHFRc.3335A>G (p.Gln1112Arg)
c.3821A>G (p.Gln1274Arg)
c.*2660T>C (n.*2660T>C)
c.1971A>G
c.4754T>C (n.4754T>C)
c.3893A>G (p.Gln1298Arg)
c.1320A>G
c.1150A>G
n.209A>G
c.3956A>G (p.Gln1319Arg)
c.3902A>G (p.Gln1301Arg)
c.3548A>G (p.Gln1183Arg)
c.2237A>G (p.Gln746Arg)
1g.11788020A>TCA338469989C1orf167,MTHFRc.3335A>T (p.Gln1112Leu)
c.3821A>T (p.Gln1274Leu)
c.*2660T>A (n.*2660T>A)
c.1971A>T
c.4754T>A (n.4754T>A)
c.3893A>T (p.Gln1298Leu)
c.1320A>T
c.1150A>T
n.209A>T
c.3956A>T (p.Gln1319Leu)
c.3902A>T (p.Gln1301Leu)
c.3548A>T (p.Gln1183Leu)
c.2237A>T (p.Gln746Leu)
1g.11788021A>CCA338469992C1orf167,MTHFRc.3336A>C (p.Gln1112His)
c.3822A>C (p.Gln1274His)
c.*2659T>G (n.*2659T>G)
c.1972A>C
c.4753T>G (n.4753T>G)
c.3894A>C (p.Gln1298His)
c.1321A>C
c.1151A>C
n.210A>C
c.3957A>C (p.Gln1319His)
c.3903A>C (p.Gln1301His)
c.3549A>C (p.Gln1183His)
c.2238A>C (p.Gln746His)
1g.11788021A>GCA416362069C1orf167,MTHFRc.3336A>G (p.Gln1112=)
c.3822A>G (p.Gln1274=)
c.*2659T>C (n.*2659T>C)
c.1972A>G
c.4753T>C (n.4753T>C)
c.3894A>G (p.Gln1298=)
c.1321A>G
c.1151A>G
n.210A>G
c.3957A>G (p.Gln1319=)
c.3903A>G (p.Gln1301=)
c.3549A>G (p.Gln1183=)
c.2238A>G (p.Gln746=)
1g.11788021A>TCA338469993C1orf167,MTHFRc.3336A>T (p.Gln1112His)
c.3822A>T (p.Gln1274His)
c.*2659T>A (n.*2659T>A)
c.1972A>T
c.4753T>A (n.4753T>A)
c.3894A>T (p.Gln1298His)
c.1321A>T
c.1151A>T
n.210A>T
c.3957A>T (p.Gln1319His)
c.3903A>T (p.Gln1301His)
c.3549A>T (p.Gln1183His)
c.2238A>T (p.Gln746His)
1g.11788022A>CCA338469994C1orf167,MTHFRc.3337A>C (p.Ser1113Arg)
c.3823A>C (p.Ser1275Arg)
c.*2658T>G (n.*2658T>G)
c.1973A>C
c.4752T>G (n.4752T>G)
c.3895A>C (p.Ser1299Arg)
c.1322A>C
c.1152A>C
n.211A>C
c.3958A>C (p.Ser1320Arg)
c.3904A>C (p.Ser1302Arg)
c.3550A>C (p.Ser1184Arg)
c.2239A>C (p.Ser747Arg)
1g.11788022A>GCA338469996C1orf167,MTHFRc.3337A>G (p.Ser1113Gly)
c.3823A>G (p.Ser1275Gly)
c.*2658T>C (n.*2658T>C)
c.1973A>G
c.4752T>C (n.4752T>C)
c.3895A>G (p.Ser1299Gly)
c.1322A>G
c.1152A>G
n.211A>G
c.3958A>G (p.Ser1320Gly)
c.3904A>G (p.Ser1302Gly)
c.3550A>G (p.Ser1184Gly)
c.2239A>G (p.Ser747Gly)
1g.11788022A>TCA338469995C1orf167,MTHFRc.3337A>T (p.Ser1113Cys)
c.3823A>T (p.Ser1275Cys)
c.*2658T>A (n.*2658T>A)
c.1973A>T
c.4752T>A (n.4752T>A)
c.3895A>T (p.Ser1299Cys)
c.1322A>T
c.1152A>T
n.211A>T
c.3958A>T (p.Ser1320Cys)
c.3904A>T (p.Ser1302Cys)
c.3550A>T (p.Ser1184Cys)
c.2239A>T (p.Ser747Cys)
1g.11788023G>ACA595063C1orf167,MTHFRc.3338G>A (p.Ser1113Asn)
c.3824G>A (p.Ser1275Asn)
c.*2657C>T (n.*2657C>T)
c.1974G>A
c.4751C>T (n.4751C>T)
c.3896G>A (p.Ser1299Asn)
c.1323G>A
c.1153G>A
n.212G>A
c.3959G>A (p.Ser1320Asn)
c.3905G>A (p.Ser1302Asn)
c.3551G>A (p.Ser1184Asn)
c.2240G>A (p.Ser747Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.11788023G>CCA17996096C1orf167,MTHFRc.3338G>C (p.Ser1113Thr)
c.3824G>C (p.Ser1275Thr)
c.*2657C>G (n.*2657C>G)
c.1974G>C
c.4751C>G (n.4751C>G)
c.3896G>C (p.Ser1299Thr)
c.1323G>C
c.1153G>C
n.212G>C
c.3959G>C (p.Ser1320Thr)
c.3905G>C (p.Ser1302Thr)
c.3551G>C (p.Ser1184Thr)
c.2240G>C (p.Ser747Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788023G=CA1143778794C1orf167,MTHFRc.3338G= (p.Ser1113=)
c.3824G= (p.Ser1275=)
c.*2657C= (n.*2657C=)
c.1974G=
c.4751C= (n.4751C=)
c.3896G= (p.Ser1299=)
c.1323G=
c.1153G=
n.212G=
c.3959G= (p.Ser1320=)
c.3905G= (p.Ser1302=)
c.3551G= (p.Ser1184=)
c.2240G= (p.Ser747=)
1g.11788023G>TCA338469997C1orf167,MTHFRc.3338G>T (p.Ser1113Ile)
c.3824G>T (p.Ser1275Ile)
c.*2657C>A (n.*2657C>A)
c.1974G>T
c.4751C>A (n.4751C>A)
c.3896G>T (p.Ser1299Ile)
c.1323G>T
c.1153G>T
n.212G>T
c.3959G>T (p.Ser1320Ile)
c.3905G>T (p.Ser1302Ile)
c.3551G>T (p.Ser1184Ile)
c.2240G>T (p.Ser747Ile)
1g.11788024C>ACA338469998C1orf167,MTHFRc.3339C>A (p.Ser1113Arg)
c.3825C>A (p.Ser1275Arg)
c.*2656G>T (n.*2656G>T)
c.1975C>A
c.4750G>T (n.4750G>T)
c.3897C>A (p.Ser1299Arg)
c.1324C>A
c.1154C>A
n.213C>A
c.3960C>A (p.Ser1320Arg)
c.3906C>A (p.Ser1302Arg)
c.3552C>A (p.Ser1184Arg)
c.2241C>A (p.Ser747Arg)
 gnomAD v4
1g.11788024C=CA1153786653C1orf167,MTHFRc.3339C= (p.Ser1113=)
c.3825C= (p.Ser1275=)
c.*2656G= (n.*2656G=)
c.1975C=
c.4750G= (n.4750G=)
c.3897C= (p.Ser1299=)
c.1324C=
c.1154C=
n.213C=
c.3960C= (p.Ser1320=)
c.3906C= (p.Ser1302=)
c.3552C= (p.Ser1184=)
c.2241C= (p.Ser747=)
1g.11788024C>GCA338469999C1orf167,MTHFRc.3339C>G (p.Ser1113Arg)
c.3825C>G (p.Ser1275Arg)
c.*2656G>C (n.*2656G>C)
c.1975C>G
c.4750G>C (n.4750G>C)
c.3897C>G (p.Ser1299Arg)
c.1324C>G
c.1154C>G
n.213C>G
c.3960C>G (p.Ser1320Arg)
c.3906C>G (p.Ser1302Arg)
c.3552C>G (p.Ser1184Arg)
c.2241C>G (p.Ser747Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.11788024C>TCA416362073C1orf167,MTHFRc.3339C>T (p.Ser1113=)
c.3825C>T (p.Ser1275=)
c.*2656G>A (n.*2656G>A)
c.1975C>T
c.4750G>A (n.4750G>A)
c.3897C>T (p.Ser1299=)
c.1324C>T
c.1154C>T
n.213C>T
c.3960C>T (p.Ser1320=)
c.3906C>T (p.Ser1302=)
c.3552C>T (p.Ser1184=)
c.2241C>T (p.Ser747=)
 gnomAD v4
1g.11788025A>CCA338470000C1orf167,MTHFRc.3340A>C (p.Lys1114Gln)
c.3826A>C (p.Lys1276Gln)
c.*2655T>G (n.*2655T>G)
c.1976A>C
c.4749T>G (n.4749T>G)
c.3898A>C (p.Lys1300Gln)
c.1325A>C
c.1155A>C
n.214A>C
c.3961A>C (p.Lys1321Gln)
c.3907A>C (p.Lys1303Gln)
c.3553A>C (p.Lys1185Gln)
c.2242A>C (p.Lys748Gln)
1g.11788025A>GCA338470001C1orf167,MTHFRc.3340A>G (p.Lys1114Glu)
c.3826A>G (p.Lys1276Glu)
c.*2655T>C (n.*2655T>C)
c.1976A>G
c.4749T>C (n.4749T>C)
c.3898A>G (p.Lys1300Glu)
c.1325A>G
c.1155A>G
n.214A>G
c.3961A>G (p.Lys1321Glu)
c.3907A>G (p.Lys1303Glu)
c.3553A>G (p.Lys1185Glu)
c.2242A>G (p.Lys748Glu)
 dbSNP
1g.11788025A>TCA338470002C1orf167,MTHFRc.3340A>T (p.Lys1114Ter)
c.3826A>T (p.Lys1276Ter)
c.*2655T>A (n.*2655T>A)
c.1976A>T
c.4749T>A (n.4749T>A)
c.3898A>T (p.Lys1300Ter)
c.1325A>T
c.1155A>T
n.214A>T
c.3961A>T (p.Lys1321Ter)
c.3907A>T (p.Lys1303Ter)
c.3553A>T (p.Lys1185Ter)
c.2242A>T (p.Lys748Ter)
1g.11788026A=CA1153786658C1orf167,MTHFRc.3341A= (p.Lys1114=)
c.3827A= (p.Lys1276=)
c.*2654T= (n.*2654T=)
c.1977A=
c.4748T= (n.4748T=)
c.3899A= (p.Lys1300=)
c.1326A=
c.1156A=
n.215A=
c.3962A= (p.Lys1321=)
c.3908A= (p.Lys1303=)
c.3554A= (p.Lys1185=)
c.2243A= (p.Lys748=)
1g.11788026A>CCA338470003C1orf167,MTHFRc.3341A>C (p.Lys1114Thr)
c.3827A>C (p.Lys1276Thr)
c.*2654T>G (n.*2654T>G)
c.1977A>C
c.4748T>G (n.4748T>G)
c.3899A>C (p.Lys1300Thr)
c.1326A>C
c.1156A>C
n.215A>C
c.3962A>C (p.Lys1321Thr)
c.3908A>C (p.Lys1303Thr)
c.3554A>C (p.Lys1185Thr)
c.2243A>C (p.Lys748Thr)
 gnomAD v4
1g.11788026A>GCA338470004C1orf167,MTHFRc.3341A>G (p.Lys1114Arg)
c.3827A>G (p.Lys1276Arg)
c.*2654T>C (n.*2654T>C)
c.1977A>G
c.4748T>C (n.4748T>C)
c.3899A>G (p.Lys1300Arg)
c.1326A>G
c.1156A>G
n.215A>G
c.3962A>G (p.Lys1321Arg)
c.3908A>G (p.Lys1303Arg)
c.3554A>G (p.Lys1185Arg)
c.2243A>G (p.Lys748Arg)
1g.11788026A>TCA338470005C1orf167,MTHFRc.3341A>T (p.Lys1114Met)
c.3827A>T (p.Lys1276Met)
c.*2654T>A (n.*2654T>A)
c.1977A>T
c.4748T>A (n.4748T>A)
c.3899A>T (p.Lys1300Met)
c.1326A>T
c.1156A>T
n.215A>T
c.3962A>T (p.Lys1321Met)
c.3908A>T (p.Lys1303Met)
c.3554A>T (p.Lys1185Met)
c.2243A>T (p.Lys748Met)
1g.11788027G>ACA595064C1orf167,MTHFRc.3342G>A (p.Lys1114=)
c.3828G>A (p.Lys1276=)
c.*2653C>T (n.*2653C>T)
c.1978G>A
c.4747C>T (n.4747C>T)
c.3900G>A (p.Lys1300=)
c.1327G>A
c.1157G>A
n.216G>A
c.3963G>A (p.Lys1321=)
c.3909G>A (p.Lys1303=)
c.3555G>A (p.Lys1185=)
c.2244G>A (p.Lys748=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11788027G>CCA338470007C1orf167,MTHFRc.3342G>C (p.Lys1114Asn)
c.3828G>C (p.Lys1276Asn)
c.*2653C>G (n.*2653C>G)
c.1978G>C
c.4747C>G (n.4747C>G)
c.3900G>C (p.Lys1300Asn)
c.1327G>C
c.1157G>C
n.216G>C
c.3963G>C (p.Lys1321Asn)
c.3909G>C (p.Lys1303Asn)
c.3555G>C (p.Lys1185Asn)
c.2244G>C (p.Lys748Asn)
1g.11788027G=CA1147069870C1orf167,MTHFRc.3342G= (p.Lys1114=)
c.3828G= (p.Lys1276=)
c.*2653C= (n.*2653C=)
c.1978G=
c.4747C= (n.4747C=)
c.3900G= (p.Lys1300=)
c.1327G=
c.1157G=
n.216G=
c.3963G= (p.Lys1321=)
c.3909G= (p.Lys1303=)
c.3555G= (p.Lys1185=)
c.2244G= (p.Lys748=)
1g.11788027G>TCA338470006C1orf167,MTHFRc.3342G>T (p.Lys1114Asn)
c.3828G>T (p.Lys1276Asn)
c.*2653C>A (n.*2653C>A)
c.1978G>T
c.4747C>A (n.4747C>A)
c.3900G>T (p.Lys1300Asn)
c.1327G>T
c.1157G>T
n.216G>T
c.3963G>T (p.Lys1321Asn)
c.3909G>T (p.Lys1303Asn)
c.3555G>T (p.Lys1185Asn)
c.2244G>T (p.Lys748Asn)
1g.11788028dupCA521454890C1orf167,MTHFRc.3343dup (p.Ala1115GlyfsTer3)
c.3829dup (p.Ala1277GlyfsTer3)
c.*2653dup (n.*2653dup)
c.1979dup
c.4747dup (n.4747dup)
c.3901dup (p.Ala1301GlyfsTer3)
c.1328dup
c.1158dup
n.217dup
c.3964dup (p.Ala1322GlyfsTer3)
c.3910dup (p.Ala1304GlyfsTer3)
c.3556dup (p.Ala1186GlyfsTer3)
c.2245dup (p.Ala749GlyfsTer3)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788028G>ACA338470008C1orf167,MTHFRc.3343G>A (p.Ala1115Thr)
c.3829G>A (p.Ala1277Thr)
c.*2652C>T (n.*2652C>T)
c.1979G>A
c.4746C>T (n.4746C>T)
c.3901G>A (p.Ala1301Thr)
c.1328G>A
c.1158G>A
n.217G>A
c.3964G>A (p.Ala1322Thr)
c.3910G>A (p.Ala1304Thr)
c.3556G>A (p.Ala1186Thr)
c.2245G>A (p.Ala749Thr)
 gnomAD v4
1g.11788028G>CCA338470009C1orf167,MTHFRc.3343G>C (p.Ala1115Pro)
c.3829G>C (p.Ala1277Pro)
c.*2652C>G (n.*2652C>G)
c.1979G>C
c.4746C>G (n.4746C>G)
c.3901G>C (p.Ala1301Pro)
c.1328G>C
c.1158G>C
n.217G>C
c.3964G>C (p.Ala1322Pro)
c.3910G>C (p.Ala1304Pro)
c.3556G>C (p.Ala1186Pro)
c.2245G>C (p.Ala749Pro)
1g.11788028G>TCA338470010C1orf167,MTHFRc.3343G>T (p.Ala1115Ser)
c.3829G>T (p.Ala1277Ser)
c.*2652C>A (n.*2652C>A)
c.1979G>T
c.4746C>A (n.4746C>A)
c.3901G>T (p.Ala1301Ser)
c.1328G>T
c.1158G>T
n.217G>T
c.3964G>T (p.Ala1322Ser)
c.3910G>T (p.Ala1304Ser)
c.3556G>T (p.Ala1186Ser)
c.2245G>T (p.Ala749Ser)
 dbSNP gnomAD v4
1g.11788029C>ACA338470011C1orf167,MTHFRc.3344C>A (p.Ala1115Asp)
c.3830C>A (p.Ala1277Asp)
c.*2651G>T (n.*2651G>T)
c.1980C>A
c.4745G>T (n.4745G>T)
c.3902C>A (p.Ala1301Asp)
c.1329C>A
c.1159C>A
n.218C>A
c.3965C>A (p.Ala1322Asp)
c.3911C>A (p.Ala1304Asp)
c.3557C>A (p.Ala1186Asp)
c.2246C>A (p.Ala749Asp)
 gnomAD v4
1g.11788029C=CA1153786667C1orf167,MTHFRc.3344C= (p.Ala1115=)
c.3830C= (p.Ala1277=)
c.*2651G= (n.*2651G=)
c.1980C=
c.4745G= (n.4745G=)
c.3902C= (p.Ala1301=)
c.1329C=
c.1159C=
n.218C=
c.3965C= (p.Ala1322=)
c.3911C= (p.Ala1304=)
c.3557C= (p.Ala1186=)
c.2246C= (p.Ala749=)
1g.11788029C>GCA338470012C1orf167,MTHFRc.3344C>G (p.Ala1115Gly)
c.3830C>G (p.Ala1277Gly)
c.*2651G>C (n.*2651G>C)
c.1980C>G
c.4745G>C (n.4745G>C)
c.3902C>G (p.Ala1301Gly)
c.1329C>G
c.1159C>G
n.218C>G
c.3965C>G (p.Ala1322Gly)
c.3911C>G (p.Ala1304Gly)
c.3557C>G (p.Ala1186Gly)
c.2246C>G (p.Ala749Gly)
1g.11788029C>TCA338470013C1orf167,MTHFRc.3344C>T (p.Ala1115Val)
c.3830C>T (p.Ala1277Val)
c.*2651G>A (n.*2651G>A)
c.1980C>T
c.4745G>A (n.4745G>A)
c.3902C>T (p.Ala1301Val)
c.1329C>T
c.1159C>T
n.218C>T
c.3965C>T (p.Ala1322Val)
c.3911C>T (p.Ala1304Val)
c.3557C>T (p.Ala1186Val)
c.2246C>T (p.Ala749Val)
 dbSNP
1g.11788031delCA2643295424C1orf167,MTHFRc.3346del (p.His1116IlefsTer23)
c.3832del (p.His1278IlefsTer28)
c.*2651del (n.*2651del)
c.1982del
c.4745del (n.4745del)
c.3904del (p.His1302IlefsTer23)
c.1331del
c.1161del
n.220del
c.3967del (p.His1323IlefsTer28)
c.3913del (p.His1305IlefsTer28)
c.3967del (p.His1323IlefsTer?)
c.3559del (p.His1187IlefsTer28)
c.2248del (p.His750IlefsTer28)
 gnomAD v4
1g.11788030C>ACA416362081C1orf167,MTHFRc.3345C>A (p.Ala1115=)
c.3831C>A (p.Ala1277=)
c.*2650G>T (n.*2650G>T)
c.1981C>A
c.4744G>T (n.4744G>T)
c.3903C>A (p.Ala1301=)
c.1330C>A
c.1160C>A
n.219C>A
c.3966C>A (p.Ala1322=)
c.3912C>A (p.Ala1304=)
c.3558C>A (p.Ala1186=)
c.2247C>A (p.Ala749=)
 gnomAD v4
1g.11788030C=CA1153786671C1orf167,MTHFRc.3345C= (p.Ala1115=)
c.3831C= (p.Ala1277=)
c.*2650G= (n.*2650G=)
c.1981C=
c.4744G= (n.4744G=)
c.3903C= (p.Ala1301=)
c.1330C=
c.1160C=
n.219C=
c.3966C= (p.Ala1322=)
c.3912C= (p.Ala1304=)
c.3558C= (p.Ala1186=)
c.2247C= (p.Ala749=)
1g.11788030C>GCA416362082C1orf167,MTHFRc.3345C>G (p.Ala1115=)
c.3831C>G (p.Ala1277=)
c.*2650G>C (n.*2650G>C)
c.1981C>G
c.4744G>C (n.4744G>C)
c.3903C>G (p.Ala1301=)
c.1330C>G
c.1160C>G
n.219C>G
c.3966C>G (p.Ala1322=)
c.3912C>G (p.Ala1304=)
c.3558C>G (p.Ala1186=)
c.2247C>G (p.Ala749=)
1g.11788030C>TCA416362083C1orf167,MTHFRc.3345C>T (p.Ala1115=)
c.3831C>T (p.Ala1277=)
c.*2650G>A (n.*2650G>A)
c.1981C>T
c.4744G>A (n.4744G>A)
c.3903C>T (p.Ala1301=)
c.1330C>T
c.1160C>T
n.219C>T
c.3966C>T (p.Ala1322=)
c.3912C>T (p.Ala1304=)
c.3558C>T (p.Ala1186=)
c.2247C>T (p.Ala749=)
 dbSNP gnomAD v3 gnomAD v4
1g.11788031C>ACA338470014C1orf167,MTHFRc.3346C>A (p.His1116Asn)
c.3832C>A (p.His1278Asn)
c.*2649G>T (n.*2649G>T)
c.1982C>A
c.4743G>T (n.4743G>T)
c.3904C>A (p.His1302Asn)
c.1331C>A
c.1161C>A
n.220C>A
c.3967C>A (p.His1323Asn)
c.3913C>A (p.His1305Asn)
c.3559C>A (p.His1187Asn)
c.2248C>A (p.His750Asn)
 gnomAD v4
1g.11788031C>GCA338470015C1orf167,MTHFRc.3346C>G (p.His1116Asp)
c.3832C>G (p.His1278Asp)
c.*2649G>C (n.*2649G>C)
c.1982C>G
c.4743G>C (n.4743G>C)
c.3904C>G (p.His1302Asp)
c.1331C>G
c.1161C>G
n.220C>G
c.3967C>G (p.His1323Asp)
c.3913C>G (p.His1305Asp)
c.3559C>G (p.His1187Asp)
c.2248C>G (p.His750Asp)
1g.11788031C>TCA338470016C1orf167,MTHFRc.3346C>T (p.His1116Tyr)
c.3832C>T (p.His1278Tyr)
c.*2649G>A (n.*2649G>A)
c.1982C>T
c.4743G>A (n.4743G>A)
c.3904C>T (p.His1302Tyr)
c.1331C>T
c.1161C>T
n.220C>T
c.3967C>T (p.His1323Tyr)
c.3913C>T (p.His1305Tyr)
c.3559C>T (p.His1187Tyr)
c.2248C>T (p.His750Tyr)
1g.11788032A>CCA338470017C1orf167,MTHFRc.3347A>C (p.His1116Pro)
c.3833A>C (p.His1278Pro)
c.*2648T>G (n.*2648T>G)
c.1983A>C
c.4742T>G (n.4742T>G)
c.3905A>C (p.His1302Pro)
c.1332A>C
c.1162A>C
n.221A>C
c.3968A>C (p.His1323Pro)
c.3914A>C (p.His1305Pro)
c.3560A>C (p.His1187Pro)
c.2249A>C (p.His750Pro)
1g.11788032A>GCA338470018C1orf167,MTHFRc.3347A>G (p.His1116Arg)
c.3833A>G (p.His1278Arg)
c.*2648T>C (n.*2648T>C)
c.1983A>G
c.4742T>C (n.4742T>C)
c.3905A>G (p.His1302Arg)
c.1332A>G
c.1162A>G
n.221A>G
c.3968A>G (p.His1323Arg)
c.3914A>G (p.His1305Arg)
c.3560A>G (p.His1187Arg)
c.2249A>G (p.His750Arg)
 gnomAD v4
1g.11788032A>TCA338470019C1orf167,MTHFRc.3347A>T (p.His1116Leu)
c.3833A>T (p.His1278Leu)
c.*2648T>A (n.*2648T>A)
c.1983A>T
c.4742T>A (n.4742T>A)
c.3905A>T (p.His1302Leu)
c.1332A>T
c.1162A>T
n.221A>T
c.3968A>T (p.His1323Leu)
c.3914A>T (p.His1305Leu)
c.3560A>T (p.His1187Leu)
c.2249A>T (p.His750Leu)
1g.11788033T>ACA338470020C1orf167,MTHFRc.3348T>A (p.His1116Gln)
c.3834T>A (p.His1278Gln)
c.*2647A>T (n.*2647A>T)
c.1984T>A
c.4741A>T (n.4741A>T)
c.3906T>A (p.His1302Gln)
c.1333T>A
c.1163T>A
n.222T>A
c.3969T>A (p.His1323Gln)
c.3915T>A (p.His1305Gln)
c.3561T>A (p.His1187Gln)
c.2250T>A (p.His750Gln)
1g.11788033T>CCA416361654C1orf167,MTHFRc.3348T>C (p.His1116=)
c.3834T>C (p.His1278=)
c.*2647A>G (n.*2647A>G)
c.1984T>C
c.4741A>G (n.4741A>G)
c.3906T>C (p.His1302=)
c.1333T>C
c.1163T>C
n.222T>C
c.3969T>C (p.His1323=)
c.3915T>C (p.His1305=)
c.3561T>C (p.His1187=)
c.2250T>C (p.His750=)
 dbSNP
1g.11788033T>GCA338470021C1orf167,MTHFRc.3348T>G (p.His1116Gln)
c.3834T>G (p.His1278Gln)
c.*2647A>C (n.*2647A>C)
c.1984T>G
c.4741A>C (n.4741A>C)
c.3906T>G (p.His1302Gln)
c.1333T>G
c.1163T>G
n.222T>G
c.3969T>G (p.His1323Gln)
c.3915T>G (p.His1305Gln)
c.3561T>G (p.His1187Gln)
c.2250T>G (p.His750Gln)
1g.11788033T=CA1153786675C1orf167,MTHFRc.3348T= (p.His1116=)
c.3834T= (p.His1278=)
c.*2647A= (n.*2647A=)
c.1984T=
c.4741A= (n.4741A=)
c.3906T= (p.His1302=)
c.1333T=
c.1163T=
n.222T=
c.3969T= (p.His1323=)
c.3915T= (p.His1305=)
c.3561T= (p.His1187=)
c.2250T= (p.His750=)
1g.11788034A>CCA338470022C1orf167,MTHFRc.3349A>C (p.Lys1117Gln)
c.3835A>C (p.Lys1279Gln)
c.*2646T>G (n.*2646T>G)
c.1985A>C
c.4740T>G (n.4740T>G)
c.3907A>C (p.Lys1303Gln)
c.1334A>C
c.1164A>C
n.223A>C
c.3970A>C (p.Lys1324Gln)
c.3916A>C (p.Lys1306Gln)
c.3562A>C (p.Lys1188Gln)
c.2251A>C (p.Lys751Gln)
1g.11788034A>GCA338470023C1orf167,MTHFRc.3349A>G (p.Lys1117Glu)
c.3835A>G (p.Lys1279Glu)
c.*2646T>C (n.*2646T>C)
c.1985A>G
c.4740T>C (n.4740T>C)
c.3907A>G (p.Lys1303Glu)
c.1334A>G
c.1164A>G
n.223A>G
c.3970A>G (p.Lys1324Glu)
c.3916A>G (p.Lys1306Glu)
c.3562A>G (p.Lys1188Glu)
c.2251A>G (p.Lys751Glu)
1g.11788034A>TCA338470024C1orf167,MTHFRc.3349A>T (p.Lys1117Ter)
c.3835A>T (p.Lys1279Ter)
c.*2646T>A (n.*2646T>A)
c.1985A>T
c.4740T>A (n.4740T>A)
c.3907A>T (p.Lys1303Ter)
c.1334A>T
c.1164A>T
n.223A>T
c.3970A>T (p.Lys1324Ter)
c.3916A>T (p.Lys1306Ter)
c.3562A>T (p.Lys1188Ter)
c.2251A>T (p.Lys751Ter)
1g.11788035A>CCA338470025C1orf167,MTHFRc.3350A>C (p.Lys1117Thr)
c.3836A>C (p.Lys1279Thr)
c.*2645T>G (n.*2645T>G)
c.1986A>C
c.4739T>G (n.4739T>G)
c.3908A>C (p.Lys1303Thr)
c.1335A>C
c.1165A>C
n.224A>C
c.3971A>C (p.Lys1324Thr)
c.3917A>C (p.Lys1306Thr)
c.3563A>C (p.Lys1188Thr)
c.2252A>C (p.Lys751Thr)
1g.11788035A>GCA338470026C1orf167,MTHFRc.3350A>G (p.Lys1117Arg)
c.3836A>G (p.Lys1279Arg)
c.*2645T>C (n.*2645T>C)
c.1986A>G
c.4739T>C (n.4739T>C)
c.3908A>G (p.Lys1303Arg)
c.1335A>G
c.1165A>G
n.224A>G
c.3971A>G (p.Lys1324Arg)
c.3917A>G (p.Lys1306Arg)
c.3563A>G (p.Lys1188Arg)
c.2252A>G (p.Lys751Arg)
1g.11788035A>TCA338470027C1orf167,MTHFRc.3350A>T (p.Lys1117Ile)
c.3836A>T (p.Lys1279Ile)
c.*2645T>A (n.*2645T>A)
c.1986A>T
c.4739T>A (n.4739T>A)
c.3908A>T (p.Lys1303Ile)
c.1335A>T
c.1165A>T
n.224A>T
c.3971A>T (p.Lys1324Ile)
c.3917A>T (p.Lys1306Ile)
c.3563A>T (p.Lys1188Ile)
c.2252A>T (p.Lys751Ile)
1g.11788036A>CCA338470028C1orf167,MTHFRc.3351A>C (p.Lys1117Asn)
c.3837A>C (p.Lys1279Asn)
c.*2644T>G (n.*2644T>G)
c.1987A>C
c.4738T>G (n.4738T>G)
c.3909A>C (p.Lys1303Asn)
c.1336A>C
c.1166A>C
n.225A>C
c.3972A>C (p.Lys1324Asn)
c.3918A>C (p.Lys1306Asn)
c.3564A>C (p.Lys1188Asn)
c.2253A>C (p.Lys751Asn)
1g.11788036A>GCA416361655C1orf167,MTHFRc.3351A>G (p.Lys1117=)
c.3837A>G (p.Lys1279=)
c.*2644T>C (n.*2644T>C)
c.1987A>G
c.4738T>C (n.4738T>C)
c.3909A>G (p.Lys1303=)
c.1336A>G
c.1166A>G
n.225A>G
c.3972A>G (p.Lys1324=)
c.3918A>G (p.Lys1306=)
c.3564A>G (p.Lys1188=)
c.2253A>G (p.Lys751=)
 gnomAD v4
1g.11788036A>TCA338470029C1orf167,MTHFRc.3351A>T (p.Lys1117Asn)
c.3837A>T (p.Lys1279Asn)
c.*2644T>A (n.*2644T>A)
c.1987A>T
c.4738T>A (n.4738T>A)
c.3909A>T (p.Lys1303Asn)
c.1336A>T
c.1166A>T
n.225A>T
c.3972A>T (p.Lys1324Asn)
c.3918A>T (p.Lys1306Asn)
c.3564A>T (p.Lys1188Asn)
c.2253A>T (p.Lys751Asn)
1g.11788037C>ACA416361656C1orf167,MTHFRc.3352C>A (p.Arg1118=)
c.3838C>A (p.Arg1280=)
c.*2643G>T (n.*2643G>T)
c.1988C>A
c.4737G>T (n.4737G>T)
c.3910C>A (p.Arg1304=)
c.1337C>A
c.1167C>A
n.226C>A
c.3973C>A (p.Arg1325=)
c.3919C>A (p.Arg1307=)
c.3565C>A (p.Arg1189=)
c.2254C>A (p.Arg752=)
 gnomAD v4
1g.11788037C=CA1153786678C1orf167,MTHFRc.3352C= (p.Arg1118=)
c.3838C= (p.Arg1280=)
c.*2643G= (n.*2643G=)
c.1988C=
c.4737G= (n.4737G=)
c.3910C= (p.Arg1304=)
c.1337C=
c.1167C=
n.226C=
c.3973C= (p.Arg1325=)
c.3919C= (p.Arg1307=)
c.3565C= (p.Arg1189=)
c.2254C= (p.Arg752=)
1g.11788037C>GCA338470030C1orf167,MTHFRc.3352C>G (p.Arg1118Gly)
c.3838C>G (p.Arg1280Gly)
c.*2643G>C (n.*2643G>C)
c.1988C>G
c.4737G>C (n.4737G>C)
c.3910C>G (p.Arg1304Gly)
c.1337C>G
c.1167C>G
n.226C>G
c.3973C>G (p.Arg1325Gly)
c.3919C>G (p.Arg1307Gly)
c.3565C>G (p.Arg1189Gly)
c.2254C>G (p.Arg752Gly)
1g.11788037C>TCA338470031C1orf167,MTHFRc.3352C>T (p.Arg1118Trp)
c.3838C>T (p.Arg1280Trp)
c.*2643G>A (n.*2643G>A)
c.1988C>T
c.4737G>A (n.4737G>A)
c.3910C>T (p.Arg1304Trp)
c.1337C>T
c.1167C>T
n.226C>T
c.3973C>T (p.Arg1325Trp)
c.3919C>T (p.Arg1307Trp)
c.3565C>T (p.Arg1189Trp)
c.2254C>T (p.Arg752Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788038G>ACA338470032C1orf167,MTHFRc.3353G>A (p.Arg1118Gln)
c.3839G>A (p.Arg1280Gln)
c.*2642C>T (n.*2642C>T)
c.1989G>A
c.4736C>T (n.4736C>T)
c.3911G>A (p.Arg1304Gln)
c.1338G>A
c.1168G>A
n.227G>A
c.3974G>A (p.Arg1325Gln)
c.3920G>A (p.Arg1307Gln)
c.3566G>A (p.Arg1189Gln)
c.2255G>A (p.Arg752Gln)
 dbSNP gnomAD v2 gnomAD v4
1g.11788038G>CCA338470033C1orf167,MTHFRc.3353G>C (p.Arg1118Pro)
c.3839G>C (p.Arg1280Pro)
c.*2642C>G (n.*2642C>G)
c.1989G>C
c.4736C>G (n.4736C>G)
c.3911G>C (p.Arg1304Pro)
c.1338G>C
c.1168G>C
n.227G>C
c.3974G>C (p.Arg1325Pro)
c.3920G>C (p.Arg1307Pro)
c.3566G>C (p.Arg1189Pro)
c.2255G>C (p.Arg752Pro)
1g.11788038G=CA1153786682C1orf167,MTHFRc.3353G= (p.Arg1118=)
c.3839G= (p.Arg1280=)
c.*2642C= (n.*2642C=)
c.1989G=
c.4736C= (n.4736C=)
c.3911G= (p.Arg1304=)
c.1338G=
c.1168G=
n.227G=
c.3974G= (p.Arg1325=)
c.3920G= (p.Arg1307=)
c.3566G= (p.Arg1189=)
c.2255G= (p.Arg752=)
1g.11788038G>TCA338470034C1orf167,MTHFRc.3353G>T (p.Arg1118Leu)
c.3839G>T (p.Arg1280Leu)
c.*2642C>A (n.*2642C>A)
c.1989G>T
c.4736C>A (n.4736C>A)
c.3911G>T (p.Arg1304Leu)
c.1338G>T
c.1168G>T
n.227G>T
c.3974G>T (p.Arg1325Leu)
c.3920G>T (p.Arg1307Leu)
c.3566G>T (p.Arg1189Leu)
c.2255G>T (p.Arg752Leu)
 gnomAD v4
1g.11788039G>ACA416361657C1orf167,MTHFRc.3354G>A (p.Arg1118=)
c.3840G>A (p.Arg1280=)
c.*2641C>T (n.*2641C>T)
c.1990G>A
c.4735C>T (n.4735C>T)
c.3912G>A (p.Arg1304=)
c.1339G>A
c.1169G>A
n.228G>A
c.3975G>A (p.Arg1325=)
c.3921G>A (p.Arg1307=)
c.3567G>A (p.Arg1189=)
c.2256G>A (p.Arg752=)
1g.11788039G>CCA416361658C1orf167,MTHFRc.3354G>C (p.Arg1118=)
c.3840G>C (p.Arg1280=)
c.*2641C>G (n.*2641C>G)
c.1990G>C
c.4735C>G (n.4735C>G)
c.3912G>C (p.Arg1304=)
c.1339G>C
c.1169G>C
n.228G>C
c.3975G>C (p.Arg1325=)
c.3921G>C (p.Arg1307=)
c.3567G>C (p.Arg1189=)
c.2256G>C (p.Arg752=)
 dbSNP
1g.11788039G=CA1153786689C1orf167,MTHFRc.3354G= (p.Arg1118=)
c.3840G= (p.Arg1280=)
c.*2641C= (n.*2641C=)
c.1990G=
c.4735C= (n.4735C=)
c.3912G= (p.Arg1304=)
c.1339G=
c.1169G=
n.228G=
c.3975G= (p.Arg1325=)
c.3921G= (p.Arg1307=)
c.3567G= (p.Arg1189=)
c.2256G= (p.Arg752=)
1g.11788039G>TCA416361659C1orf167,MTHFRc.3354G>T (p.Arg1118=)
c.3840G>T (p.Arg1280=)
c.*2641C>A (n.*2641C>A)
c.1990G>T
c.4735C>A (n.4735C>A)
c.3912G>T (p.Arg1304=)
c.1339G>T
c.1169G>T
n.228G>T
c.3975G>T (p.Arg1325=)
c.3921G>T (p.Arg1307=)
c.3567G>T (p.Arg1189=)
c.2256G>T (p.Arg752=)
1g.11788040A=CA1153786693C1orf167,MTHFRc.3355A= (p.Arg1119=)
c.3841A= (p.Arg1281=)
c.*2640T= (n.*2640T=)
c.1991A=
c.4734T= (n.4734T=)
c.3913A= (p.Arg1305=)
c.1340A=
c.1170A=
n.229A=
c.3976A= (p.Arg1326=)
c.3922A= (p.Arg1308=)
c.3568A= (p.Arg1190=)
c.2257A= (p.Arg753=)
1g.11788040A>CCA416361660C1orf167,MTHFRc.3355A>C (p.Arg1119=)
c.3841A>C (p.Arg1281=)
c.*2640T>G (n.*2640T>G)
c.1991A>C
c.4734T>G (n.4734T>G)
c.3913A>C (p.Arg1305=)
c.1340A>C
c.1170A>C
n.229A>C
c.3976A>C (p.Arg1326=)
c.3922A>C (p.Arg1308=)
c.3568A>C (p.Arg1190=)
c.2257A>C (p.Arg753=)
1g.11788040A>GCA338470036C1orf167,MTHFRc.3355A>G (p.Arg1119Gly)
c.3841A>G (p.Arg1281Gly)
c.*2640T>C (n.*2640T>C)
c.1991A>G
c.4734T>C (n.4734T>C)
c.3913A>G (p.Arg1305Gly)
c.1340A>G
c.1170A>G
n.229A>G
c.3976A>G (p.Arg1326Gly)
c.3922A>G (p.Arg1308Gly)
c.3568A>G (p.Arg1190Gly)
c.2257A>G (p.Arg753Gly)
1g.11788040A>TCA338470035C1orf167,MTHFRc.3355A>T (p.Arg1119Trp)
c.3841A>T (p.Arg1281Trp)
c.*2640T>A (n.*2640T>A)
c.1991A>T
c.4734T>A (n.4734T>A)
c.3913A>T (p.Arg1305Trp)
c.1340A>T
c.1170A>T
n.229A>T
c.3976A>T (p.Arg1326Trp)
c.3922A>T (p.Arg1308Trp)
c.3568A>T (p.Arg1190Trp)
c.2257A>T (p.Arg753Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788041G>ACA338470037C1orf167,MTHFRc.3356G>A (p.Arg1119Lys)
c.3842G>A (p.Arg1281Lys)
c.*2639C>T (n.*2639C>T)
c.1992G>A
c.4733C>T (n.4733C>T)
c.3914G>A (p.Arg1305Lys)
c.1341G>A
c.1171G>A
n.230G>A
c.3977G>A (p.Arg1326Lys)
c.3923G>A (p.Arg1308Lys)
c.3569G>A (p.Arg1190Lys)
c.2258G>A (p.Arg753Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788041G>CCA338470038C1orf167,MTHFRc.3356G>C (p.Arg1119Thr)
c.3842G>C (p.Arg1281Thr)
c.*2639C>G (n.*2639C>G)
c.1992G>C
c.4733C>G (n.4733C>G)
c.3914G>C (p.Arg1305Thr)
c.1341G>C
c.1171G>C
n.230G>C
c.3977G>C (p.Arg1326Thr)
c.3923G>C (p.Arg1308Thr)
c.3569G>C (p.Arg1190Thr)
c.2258G>C (p.Arg753Thr)
1g.11788041G=CA1153786697C1orf167,MTHFRc.3356G= (p.Arg1119=)
c.3842G= (p.Arg1281=)
c.*2639C= (n.*2639C=)
c.1992G=
c.4733C= (n.4733C=)
c.3914G= (p.Arg1305=)
c.1341G=
c.1171G=
n.230G=
c.3977G= (p.Arg1326=)
c.3923G= (p.Arg1308=)
c.3569G= (p.Arg1190=)
c.2258G= (p.Arg753=)
1g.11788041G>TCA338470039C1orf167,MTHFRc.3356G>T (p.Arg1119Met)
c.3842G>T (p.Arg1281Met)
c.*2639C>A (n.*2639C>A)
c.1992G>T
c.4733C>A (n.4733C>A)
c.3914G>T (p.Arg1305Met)
c.1341G>T
c.1171G>T
n.230G>T
c.3977G>T (p.Arg1326Met)
c.3923G>T (p.Arg1308Met)
c.3569G>T (p.Arg1190Met)
c.2258G>T (p.Arg753Met)
1g.11788042G>ACA416361661C1orf167,MTHFRc.3357G>A (p.Arg1119=)
c.3843G>A (p.Arg1281=)
c.*2638C>T (n.*2638C>T)
c.1993G>A
c.4732C>T (n.4732C>T)
c.3915G>A (p.Arg1305=)
c.1342G>A
c.1172G>A
n.231G>A
c.3978G>A (p.Arg1326=)
c.3924G>A (p.Arg1308=)
c.3570G>A (p.Arg1190=)
c.2259G>A (p.Arg753=)
1g.11788042G>CCA338470040C1orf167,MTHFRc.3357G>C (p.Arg1119Ser)
c.3843G>C (p.Arg1281Ser)
c.*2638C>G (n.*2638C>G)
c.1993G>C
c.4732C>G (n.4732C>G)
c.3915G>C (p.Arg1305Ser)
c.1342G>C
c.1172G>C
n.231G>C
c.3978G>C (p.Arg1326Ser)
c.3924G>C (p.Arg1308Ser)
c.3570G>C (p.Arg1190Ser)
c.2259G>C (p.Arg753Ser)
1g.11788042G>TCA338470041C1orf167,MTHFRc.3357G>T (p.Arg1119Ser)
c.3843G>T (p.Arg1281Ser)
c.*2638C>A (n.*2638C>A)
c.1993G>T
c.4732C>A (n.4732C>A)
c.3915G>T (p.Arg1305Ser)
c.1342G>T
c.1172G>T
n.231G>T
c.3978G>T (p.Arg1326Ser)
c.3924G>T (p.Arg1308Ser)
c.3570G>T (p.Arg1190Ser)
c.2259G>T (p.Arg753Ser)
1g.11788043C>ACA338470042C1orf167,MTHFRc.3358C>A (p.Leu1120Ile)
c.3844C>A (p.Leu1282Ile)
c.*2637G>T (n.*2637G>T)
c.1994C>A
c.4731G>T (n.4731G>T)
c.3916C>A (p.Leu1306Ile)
c.1343C>A
c.1173C>A
n.232C>A
c.3979C>A (p.Leu1327Ile)
c.3925C>A (p.Leu1309Ile)
c.3571C>A (p.Leu1191Ile)
c.2260C>A (p.Leu754Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.11788043C=CA1153786702C1orf167,MTHFRc.3358C= (p.Leu1120=)
c.3844C= (p.Leu1282=)
c.*2637G= (n.*2637G=)
c.1994C=
c.4731G= (n.4731G=)
c.3916C= (p.Leu1306=)
c.1343C=
c.1173C=
n.232C=
c.3979C= (p.Leu1327=)
c.3925C= (p.Leu1309=)
c.3571C= (p.Leu1191=)
c.2260C= (p.Leu754=)
1g.11788043C>GCA338470043C1orf167,MTHFRc.3358C>G (p.Leu1120Val)
c.3844C>G (p.Leu1282Val)
c.*2637G>C (n.*2637G>C)
c.1994C>G
c.4731G>C (n.4731G>C)
c.3916C>G (p.Leu1306Val)
c.1343C>G
c.1173C>G
n.232C>G
c.3979C>G (p.Leu1327Val)
c.3925C>G (p.Leu1309Val)
c.3571C>G (p.Leu1191Val)
c.2260C>G (p.Leu754Val)
 gnomAD v4
1g.11788043C>TCA416361662C1orf167,MTHFRc.3358C>T (p.Leu1120=)
c.3844C>T (p.Leu1282=)
c.*2637G>A (n.*2637G>A)
c.1994C>T
c.4731G>A (n.4731G>A)
c.3916C>T (p.Leu1306=)
c.1343C>T
c.1173C>T
n.232C>T
c.3979C>T (p.Leu1327=)
c.3925C>T (p.Leu1309=)
c.3571C>T (p.Leu1191=)
c.2260C>T (p.Leu754=)
1g.11788044T>ACA338470044C1orf167,MTHFRc.3359T>A (p.Leu1120Gln)
c.3845T>A (p.Leu1282Gln)
c.*2636A>T (n.*2636A>T)
c.1995T>A
c.4730A>T (n.4730A>T)
c.3917T>A (p.Leu1306Gln)
c.1344T>A
c.1174T>A
n.233T>A
c.3980T>A (p.Leu1327Gln)
c.3926T>A (p.Leu1309Gln)
c.3572T>A (p.Leu1191Gln)
c.2261T>A (p.Leu754Gln)
1g.11788044T>CCA338470045C1orf167,MTHFRc.3359T>C (p.Leu1120Pro)
c.3845T>C (p.Leu1282Pro)
c.*2636A>G (n.*2636A>G)
c.1995T>C
c.4730A>G (n.4730A>G)
c.3917T>C (p.Leu1306Pro)
c.1344T>C
c.1174T>C
n.233T>C
c.3980T>C (p.Leu1327Pro)
c.3926T>C (p.Leu1309Pro)
c.3572T>C (p.Leu1191Pro)
c.2261T>C (p.Leu754Pro)
 gnomAD v4
1g.11788044T>GCA338470046C1orf167,MTHFRc.3359T>G (p.Leu1120Arg)
c.3845T>G (p.Leu1282Arg)
c.*2636A>C (n.*2636A>C)
c.1995T>G
c.4730A>C (n.4730A>C)
c.3917T>G (p.Leu1306Arg)
c.1344T>G
c.1174T>G
n.233T>G
c.3980T>G (p.Leu1327Arg)
c.3926T>G (p.Leu1309Arg)
c.3572T>G (p.Leu1191Arg)
c.2261T>G (p.Leu754Arg)
1g.11788045A>CCA416361663C1orf167,MTHFRc.3360A>C (p.Leu1120=)
c.3846A>C (p.Leu1282=)
c.*2635T>G (n.*2635T>G)
c.1996A>C
c.4729T>G (n.4729T>G)
c.3918A>C (p.Leu1306=)
c.1345A>C
c.1175A>C
n.234A>C
c.3981A>C (p.Leu1327=)
c.3927A>C (p.Leu1309=)
c.3573A>C (p.Leu1191=)
c.2262A>C (p.Leu754=)
 gnomAD v4
1g.11788045A>GCA416361664C1orf167,MTHFRc.3360A>G (p.Leu1120=)
c.3846A>G (p.Leu1282=)
c.*2635T>C (n.*2635T>C)
c.1996A>G
c.4729T>C (n.4729T>C)
c.3918A>G (p.Leu1306=)
c.1345A>G
c.1175A>G
n.234A>G
c.3981A>G (p.Leu1327=)
c.3927A>G (p.Leu1309=)
c.3573A>G (p.Leu1191=)
c.2262A>G (p.Leu754=)
 gnomAD v4
1g.11788045A>TCA416361665C1orf167,MTHFRc.3360A>T (p.Leu1120=)
c.3846A>T (p.Leu1282=)
c.*2635T>A (n.*2635T>A)
c.1996A>T
c.4729T>A (n.4729T>A)
c.3918A>T (p.Leu1306=)
c.1345A>T
c.1175A>T
n.234A>T
c.3981A>T (p.Leu1327=)
c.3927A>T (p.Leu1309=)
c.3573A>T (p.Leu1191=)
c.2262A>T (p.Leu754=)
1g.11788046C>ACA416361666C1orf167,MTHFRc.3361C>A (p.Arg1121=)
c.3847C>A (p.Arg1283Ser)
c.*2634G>T (n.*2634G>T)
c.1997C>A
c.4728G>T (n.4728G>T)
c.3919C>A (p.Arg1307=)
c.1346C>A
c.1176C>A
n.235C>A
c.3982C>A (p.Arg1328Ser)
c.3928C>A (p.Arg1310Ser)
c.3982C>A (p.Arg1328=)
c.3574C>A (p.Arg1192Ser)
c.2263C>A (p.Arg755Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.11788046C=CA1153786704C1orf167,MTHFRc.3361C= (p.Arg1121=)
c.3847C= (p.Arg1283=)
c.*2634G= (n.*2634G=)
c.1997C=
c.4728G= (n.4728G=)
c.3919C= (p.Arg1307=)
c.1346C=
c.1176C=
n.235C=
c.3982C= (p.Arg1328=)
c.3928C= (p.Arg1310=)
c.3574C= (p.Arg1192=)
c.2263C= (p.Arg755=)
1g.11788046C>GCA338470047C1orf167,MTHFRc.3361C>G (p.Arg1121Gly)
c.3847C>G (p.Arg1283Gly)
c.*2634G>C (n.*2634G>C)
c.1997C>G
c.4728G>C (n.4728G>C)
c.3919C>G (p.Arg1307Gly)
c.1346C>G
c.1176C>G
n.235C>G
c.3982C>G (p.Arg1328Gly)
c.3928C>G (p.Arg1310Gly)
c.3574C>G (p.Arg1192Gly)
c.2263C>G (p.Arg755Gly)
1g.11788046C>TCA338470048C1orf167,MTHFRc.3361C>T (p.Arg1121Trp)
c.3847C>T (p.Arg1283Cys)
c.*2634G>A (n.*2634G>A)
c.1997C>T
c.4728G>A (n.4728G>A)
c.3919C>T (p.Arg1307Trp)
c.1346C>T
c.1176C>T
n.235C>T
c.3982C>T (p.Arg1328Cys)
c.3928C>T (p.Arg1310Cys)
c.3982C>T (p.Arg1328Trp)
c.3574C>T (p.Arg1192Cys)
c.2263C>T (p.Arg755Cys)
 dbSNP gnomAD v3 gnomAD v4
1g.11788047G>ACA338470051C1orf167,MTHFRc.3362G>A (p.Arg1121Gln)
c.3848G>A (p.Arg1283His)
c.*2633C>T (n.*2633C>T)
c.1998G>A
c.4727C>T (n.4727C>T)
c.3920G>A (p.Arg1307Gln)
c.1347G>A
c.1177G>A
n.236G>A
c.3983G>A (p.Arg1328His)
c.3929G>A (p.Arg1310His)
c.3983G>A (p.Arg1328Gln)
c.3575G>A (p.Arg1192His)
c.2264G>A (p.Arg755His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788047G>CCA338470050C1orf167,MTHFRc.3362G>C (p.Arg1121Pro)
c.3848G>C (p.Arg1283Pro)
c.*2633C>G (n.*2633C>G)
c.1998G>C
c.4727C>G (n.4727C>G)
c.3920G>C (p.Arg1307Pro)
c.1347G>C
c.1177G>C
n.236G>C
c.3983G>C (p.Arg1328Pro)
c.3929G>C (p.Arg1310Pro)
c.3575G>C (p.Arg1192Pro)
c.2264G>C (p.Arg755Pro)
1g.11788047G=CA1153786707C1orf167,MTHFRc.3362G= (p.Arg1121=)
c.3848G= (p.Arg1283=)
c.*2633C= (n.*2633C=)
c.1998G=
c.4727C= (n.4727C=)
c.3920G= (p.Arg1307=)
c.1347G=
c.1177G=
n.236G=
c.3983G= (p.Arg1328=)
c.3929G= (p.Arg1310=)
c.3575G= (p.Arg1192=)
c.2264G= (p.Arg755=)
1g.11788047G>TCA338470049C1orf167,MTHFRc.3362G>T (p.Arg1121Leu)
c.3848G>T (p.Arg1283Leu)
c.*2633C>A (n.*2633C>A)
c.1998G>T
c.4727C>A (n.4727C>A)
c.3920G>T (p.Arg1307Leu)
c.1347G>T
c.1177G>T
n.236G>T
c.3983G>T (p.Arg1328Leu)
c.3929G>T (p.Arg1310Leu)
c.3575G>T (p.Arg1192Leu)
c.2264G>T (p.Arg755Leu)
 gnomAD v4
1g.11788048G>ACA338470052C1orf167,MTHFRc.3362+1G>A (n.3362+1G>A)
c.3848+1G>A (n.3848+1G>A)
c.*2632C>T (n.*2632C>T)
c.1998+1G>A
c.4726C>T (n.4726C>T)
c.3920+1G>A (n.3920+1G>A)
c.1347+1G>A
c.1177+1G>A
n.236+1G>A
c.3983+1G>A (n.3983+1G>A)
c.3929+1G>A (n.3929+1G>A)
c.3575+1G>A (n.3575+1G>A)
c.2264+1G>A (n.2264+1G>A)
 gnomAD v4
1g.11788048G>CCA338470054C1orf167,MTHFRc.3362+1G>C (n.3362+1G>C)
c.3848+1G>C (n.3848+1G>C)
c.*2632C>G (n.*2632C>G)
c.1998+1G>C
c.4726C>G (n.4726C>G)
c.3920+1G>C (n.3920+1G>C)
c.1347+1G>C
c.1177+1G>C
n.236+1G>C
c.3983+1G>C (n.3983+1G>C)
c.3929+1G>C (n.3929+1G>C)
c.3575+1G>C (n.3575+1G>C)
c.2264+1G>C (n.2264+1G>C)
1g.11788048G>TCA338470053C1orf167,MTHFRc.3362+1G>T (n.3362+1G>T)
c.3848+1G>T (n.3848+1G>T)
c.*2632C>A (n.*2632C>A)
c.1998+1G>T
c.4726C>A (n.4726C>A)
c.3920+1G>T (n.3920+1G>T)
c.1347+1G>T
c.1177+1G>T
n.236+1G>T
c.3983+1G>T (n.3983+1G>T)
c.3929+1G>T (n.3929+1G>T)
c.3575+1G>T (n.3575+1G>T)
c.2264+1G>T (n.2264+1G>T)
 gnomAD v4
1g.11788050_11788063delCA2695357656C1orf167,MTHFRc.3362+3_3362+16del (n.3362+3_3362+16del)
c.3848+3_3848+16del (n.3848+3_3848+16del)
c.*2619_*2632del (n.*2619_*2632del)
c.1998+3_1998+16del
c.4713_4726del (n.4713_4726del)
c.3920+3_3920+16del (n.3920+3_3920+16del)
c.1347+3_1347+16del
c.1177+3_1177+16del
n.236+3_236+16del
c.3983+3_3983+16del (n.3983+3_3983+16del)
c.3929+3_3929+16del (n.3929+3_3929+16del)
c.3575+3_3575+16del (n.3575+3_3575+16del)
c.2264+3_2264+16del (n.2264+3_2264+16del)
 dbSNP

Number of alleles fetched