Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.11787950C>A | CA338469834 | C1orf167,MTHFR | c.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 |
1 | g.11787950C>G | CA338469836 | C1orf167,MTHFR | c.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) | |
1 | g.11787950C>T | CA416361934 | C1orf167,MTHFR | c.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 |
1 | g.11787951T>A | CA338469840 | C1orf167,MTHFR | c.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) | |
1 | g.11787951T>C | CA338469842 | C1orf167,MTHFR | c.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 |
1 | g.11787951T>G | CA338469838 | C1orf167,MTHFR | c.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) | |
1 | g.11787951T= | CA1153786507 | C1orf167,MTHFR | c.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=) | |
1 | g.11787952G>A | CA416361938 | C1orf167,MTHFR | c.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=) | |
1 | g.11787952G>C | CA416361940 | C1orf167,MTHFR | c.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=) | |
1 | g.11787952G= | CA1153786509 | C1orf167,MTHFR | c.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=) | |
1 | g.11787952G>T | CA416361941 | C1orf167,MTHFR | c.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=) | |
1 | g.11787953C>A | CA338469844 | C1orf167,MTHFR | c.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 |
1 | g.11787953C= | CA1153786513 | C1orf167,MTHFR | c.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=) | |
1 | g.11787953C>G | CA338469845 | C1orf167,MTHFR | c.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) | |
1 | g.11787953C>T | CA338469846 | C1orf167,MTHFR | c.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 |
1 | g.11787953_11787956delinsCCCC | CA1140552194 | C1orf167,MTHFR | c.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=) | |
1 | g.11787956dup | CA17995986 | C1orf167,MTHFR | c.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 |
1 | g.11787954C>A | CA338469847 | C1orf167,MTHFR | c.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 |
1 | g.11787954C>G | CA338469848 | C1orf167,MTHFR | c.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) | |
1 | g.11787954C>T | CA338469849 | C1orf167,MTHFR | c.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) | |
1 | g.11787955C>A | CA416361944 | C1orf167,MTHFR | c.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=) | |
1 | g.11787955C>G | CA416361946 | C1orf167,MTHFR | c.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=) | |
1 | g.11787955C>T | CA416361949 | C1orf167,MTHFR | c.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=) | |
1 | g.11787956C>A | CA338469850 | C1orf167,MTHFR | c.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 |
1 | g.11787956C>G | CA338469851 | C1orf167,MTHFR | c.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) | |
1 | g.11787956C>T | CA416361950 | C1orf167,MTHFR | c.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=) | |
1 | g.11787957T>A | CA338469852 | C1orf167,MTHFR | c.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 |
1 | g.11787957T>C | CA338469853 | C1orf167,MTHFR | c.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 |
1 | g.11787957T>G | CA338469854 | C1orf167,MTHFR | c.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) | |
1 | g.11787957T= | CA1153786517 | C1orf167,MTHFR | c.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=) | |
1 | g.11787958G>A | CA416361951 | C1orf167,MTHFR | c.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=) | |
1 | g.11787958G>C | CA416361952 | C1orf167,MTHFR | c.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=) | |
1 | g.11787958G>T | CA416361954 | C1orf167,MTHFR | c.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=) | |
1 | g.11787959T>A | CA338469856 | C1orf167,MTHFR | c.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) | |
1 | g.11787959T>C | CA338469857 | C1orf167,MTHFR | c.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) | |
1 | g.11787959T>G | CA338469855 | C1orf167,MTHFR | c.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 |
1 | g.11787959T= | CA1153786520 | C1orf167,MTHFR | c.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=) | |
1 | g.11787960G>A | CA338469858 | C1orf167,MTHFR | c.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) | |
1 | g.11787960G>C | CA338469859 | C1orf167,MTHFR | c.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) | |
1 | g.11787960G>T | CA338469860 | C1orf167,MTHFR | c.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) | |
1 | g.11787961G>A | CA338469861 | C1orf167,MTHFR | c.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) | |
1 | g.11787961G>C | CA338469862 | C1orf167,MTHFR | c.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) | |
1 | g.11787961G>T | CA338469863 | C1orf167,MTHFR | c.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) | |
1 | g.11787962A= | CA1153786522 | C1orf167,MTHFR | c.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=) | |
1 | g.11787962A>C | CA338469866 | C1orf167,MTHFR | c.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) | |
1 | g.11787962A>G | CA338469864 | C1orf167,MTHFR | c.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 |
1 | g.11787962A>T | CA338469865 | C1orf167,MTHFR | c.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 |
1 | g.11787963C>A | CA338469867 | C1orf167,MTHFR | c.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) | |
1 | g.11787963C= | CA1153786524 | C1orf167,MTHFR | c.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=) | |
1 | g.11787963C>G | CA338469868 | C1orf167,MTHFR | c.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 |
1 | g.11787963C>T | CA17995998 | C1orf167,MTHFR | c.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 |
1 | g.11787964G>A | CA17996004 | C1orf167,MTHFR | c.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 |
1 | g.11787964G>C | CA416361969 | C1orf167,MTHFR | c.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=) | |
1 | g.11787964G= | CA1153786527 | C1orf167,MTHFR | c.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=) | |
1 | g.11787964G>T | CA416361967 | C1orf167,MTHFR | c.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 |
1 | g.11787964_11787971delinsGAGGGACC | CA1153786529 | C1orf167,MTHFR | c.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=) | |
1 | g.11787965A>C | CA416361972 | C1orf167,MTHFR | c.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 |
1 | g.11787965A>G | CA338469869 | C1orf167,MTHFR | c.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 |
1 | g.11787965A>T | CA338469870 | C1orf167,MTHFR | c.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) | |
1 | g.11787965_11787966delinsAG | CA1153786533 | C1orf167,MTHFR | c.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=) | |
1 | g.11787973_11787979dup | CA2643295269 | C1orf167,MTHFR | c.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 |
1 | g.11787973_11787979del | CA1153786532 | C1orf167,MTHFR | c.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 |
1 | g.11787966G>A | CA338469871 | C1orf167,MTHFR | c.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 |
1 | g.11787966G>C | CA338469873 | C1orf167,MTHFR | c.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) | |
1 | g.11787966G>T | CA338469872 | C1orf167,MTHFR | c.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) | |
1 | g.11787968del | CA886036231 | C1orf167,MTHFR | c.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 |
1 | g.11787967G>A | CA416361974 | C1orf167,MTHFR | c.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 |
1 | g.11787967G>C | CA338469874 | C1orf167,MTHFR | c.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) | |
1 | g.11787967G>T | CA338469875 | C1orf167,MTHFR | c.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) | |
1 | g.11787968G>A | CA338469876 | C1orf167,MTHFR | c.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 |
1 | g.11787968G>C | CA338469878 | C1orf167,MTHFR | c.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) | |
1 | g.11787968G= | CA1153786538 | C1orf167,MTHFR | c.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=) | |
1 | g.11787968G>T | CA338469877 | C1orf167,MTHFR | c.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 |
1 | g.11787969A>C | CA338469879 | C1orf167,MTHFR | c.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) | |
1 | g.11787969A>G | CA338469881 | C1orf167,MTHFR | c.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) | |
1 | g.11787969A>T | CA338469880 | C1orf167,MTHFR | c.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) | |
1 | g.11787970C>A | CA338469882 | C1orf167,MTHFR | c.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) | |
1 | g.11787970C>G | CA338469883 | C1orf167,MTHFR | c.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) | |
1 | g.11787970C>T | CA416361978 | C1orf167,MTHFR | c.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=) | |
1 | g.11787971C>A | CA338469884 | C1orf167,MTHFR | c.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) | |
1 | g.11787971C>G | CA338469885 | C1orf167,MTHFR | c.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) | |
1 | g.11787971C>T | CA338469886 | C1orf167,MTHFR | c.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) | |
1 | g.11787972A>C | CA338469887 | C1orf167,MTHFR | c.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 |
1 | g.11787972A>G | CA338469888 | C1orf167,MTHFR | c.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 |
1 | g.11787972A>T | CA338469889 | C1orf167,MTHFR | c.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) | |
1 | g.11787973G>A | CA416361979 | C1orf167,MTHFR | c.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=) | |
1 | g.11787973G>C | CA338469890 | C1orf167,MTHFR | c.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) | |
1 | g.11787973G>T | CA338469891 | C1orf167,MTHFR | c.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) | |
1 | g.11787974G>A | CA338469894 | C1orf167,MTHFR | c.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 |
1 | g.11787974G>C | CA338469893 | C1orf167,MTHFR | c.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) | |
1 | g.11787974G= | CA1153786542 | C1orf167,MTHFR | c.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=) | |
1 | g.11787974G>T | CA338469892 | C1orf167,MTHFR | c.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) | |
1 | g.11787975G>A | CA338469895 | C1orf167,MTHFR | c.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 |
1 | g.11787975G>C | CA338469896 | C1orf167,MTHFR | c.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) | |
1 | g.11787975G= | CA1153786543 | C1orf167,MTHFR | c.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=) | |
1 | g.11787975G>T | CA338469897 | C1orf167,MTHFR | c.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 |
1 | g.11787976A>C | CA416361982 | C1orf167,MTHFR | c.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=) | |
1 | g.11787976A>G | CA416361984 | C1orf167,MTHFR | c.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=) | |
1 | g.11787976A>T | CA416361986 | C1orf167,MTHFR | c.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=) | |
1 | g.11787976_11787982dup | CA2643295284 | C1orf167,MTHFR | c.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 |
1 | g.11787977C>A | CA338469898 | C1orf167,MTHFR | c.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) | |
1 | g.11787977C>G | CA338469899 | C1orf167,MTHFR | c.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) | |
1 | g.11787977C>T | CA338469900 | C1orf167,MTHFR | c.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) | |
1 | g.11787978C>A | CA338469901 | C1orf167,MTHFR | c.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) | |
1 | g.11787978C= | CA1153786545 | C1orf167,MTHFR | c.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=) | |
1 | g.11787978C>G | CA338469902 | C1orf167,MTHFR | c.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 |
1 | g.11787978C>T | CA338469903 | C1orf167,MTHFR | c.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 |
1 | g.11787979A>C | CA416361989 | C1orf167,MTHFR | c.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=) | |
1 | g.11787979A>G | CA416361990 | C1orf167,MTHFR | c.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=) | |
1 | g.11787979A>T | CA416361991 | C1orf167,MTHFR | c.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=) | |
1 | g.11787980A>C | CA416361995 | C1orf167,MTHFR | c.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=) | |
1 | g.11787980A>G | CA338469904 | C1orf167,MTHFR | c.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) | |
1 | g.11787980A>T | CA338469905 | C1orf167,MTHFR | c.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) | |
1 | g.11787981G>A | CA338469907 | C1orf167,MTHFR | c.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 |
1 | g.11787981G>C | CA338469908 | C1orf167,MTHFR | c.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) | |
1 | g.11787981G= | CA1153786547 | C1orf167,MTHFR | c.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=) | |
1 | g.11787981G>T | CA338469906 | C1orf167,MTHFR | c.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) | |
1 | g.11787982A>C | CA338469909 | C1orf167,MTHFR | c.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) | |
1 | g.11787982A>G | CA416361996 | C1orf167,MTHFR | c.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=) | |
1 | g.11787982A>T | CA338469910 | C1orf167,MTHFR | c.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) | |
1 | g.11787983G>A | CA338469911 | C1orf167,MTHFR | c.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 |
1 | g.11787983G>C | CA338469912 | C1orf167,MTHFR | c.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) | |
1 | g.11787983G= | CA1153786550 | C1orf167,MTHFR | c.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=) | |
1 | g.11787983G>T | CA338469913 | C1orf167,MTHFR | c.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) | |
1 | g.11787984C>A | CA338469914 | C1orf167,MTHFR | c.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) | |
1 | g.11787984C= | CA1153786553 | C1orf167,MTHFR | c.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=) | |
1 | g.11787984C>G | CA338469915 | C1orf167,MTHFR | c.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) | |
1 | g.11787984C>T | CA17996005 | C1orf167,MTHFR | c.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 |
1 | g.11787985G>A | CA595057 | C1orf167,MTHFR | c.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 |
1 | g.11787985G>C | CA416362001 | C1orf167,MTHFR | c.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=) | |
1 | g.11787985G= | CA1145701734 | C1orf167,MTHFR | c.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=) | |
1 | g.11787985G>T | CA416362003 | C1orf167,MTHFR | c.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=) | |
1 | g.11787986C>A | CA338469916 | C1orf167,MTHFR | c.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) | |
1 | g.11787986C= | CA1153786558 | C1orf167,MTHFR | c.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=) | |
1 | g.11787986C>G | CA338469917 | C1orf167,MTHFR | c.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) | |
1 | g.11787986C>T | CA17996006 | C1orf167,MTHFR | c.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 |
1 | g.11787987A= | CA1153786561 | C1orf167,MTHFR | c.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=) | |
1 | g.11787987A>C | CA338469919 | C1orf167,MTHFR | c.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) | |
1 | g.11787987A>G | CA595058 | C1orf167,MTHFR | c.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 |
1 | g.11787987A>T | CA338469918 | C1orf167,MTHFR | c.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) | |
1 | g.11787988C>A | CA338469920 | C1orf167,MTHFR | c.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) | |
1 | g.11787988C>G | CA338469921 | C1orf167,MTHFR | c.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) | |
1 | g.11787988C>T | CA416362009 | C1orf167,MTHFR | c.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=) | |
1 | g.11787989T>A | CA338469922 | C1orf167,MTHFR | c.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) | |
1 | g.11787989T>C | CA338469923 | C1orf167,MTHFR | c.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) | |
1 | g.11787989T>G | CA338469924 | C1orf167,MTHFR | c.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) | |
1 | g.11787990C>A | CA338469926 | C1orf167,MTHFR | c.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 |
1 | g.11787990C= | CA1153786565 | C1orf167,MTHFR | c.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=) | |
1 | g.11787990C>G | CA338469925 | C1orf167,MTHFR | c.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) | |
1 | g.11787990C>T | CA17996020 | C1orf167,MTHFR | c.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 |
1 | g.11787991C>A | CA416362015 | C1orf167,MTHFR | c.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=) | |
1 | g.11787991C>G | CA416362016 | C1orf167,MTHFR | c.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=) | |
1 | g.11787991C>T | CA416362014 | C1orf167,MTHFR | c.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=) | |
1 | g.11787992A= | CA1153786573 | C1orf167,MTHFR | c.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=) | |
1 | g.11787992A>C | CA338469927 | C1orf167,MTHFR | c.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) | |
1 | g.11787992A>G | CA338469928 | C1orf167,MTHFR | c.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 |
1 | g.11787992A>T | CA338469929 | C1orf167,MTHFR | c.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) | |
1 | g.11787993G>A | CA338469930 | C1orf167,MTHFR | c.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 |
1 | g.11787993G>C | CA338469931 | C1orf167,MTHFR | c.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) | |
1 | g.11787993G= | CA1153786576 | C1orf167,MTHFR | c.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=) | |
1 | g.11787993G>T | CA338469932 | C1orf167,MTHFR | c.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) | |
1 | g.11787994C>A | CA338469934 | C1orf167,MTHFR | c.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) | |
1 | g.11787994C>G | CA338469933 | C1orf167,MTHFR | c.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) | |
1 | g.11787994C>T | CA416362019 | C1orf167,MTHFR | c.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 |
1 | g.11787995C>A | CA338469935 | C1orf167,MTHFR | c.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) | |
1 | g.11787995C= | CA1153786586 | C1orf167,MTHFR | c.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=) | |
1 | g.11787995C>G | CA338469937 | C1orf167,MTHFR | c.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) | |
1 | g.11787995C>T | CA338469936 | C1orf167,MTHFR | c.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 |
1 | g.11787996C>A | CA338469938 | C1orf167,MTHFR | c.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 |
1 | g.11787996C= | CA1153786590 | C1orf167,MTHFR | c.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=) | |
1 | g.11787996C>G | CA338469939 | C1orf167,MTHFR | c.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) | |
1 | g.11787996C>T | CA338469940 | C1orf167,MTHFR | c.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 |
1 | g.11787996_11787997del | CA2643295305 | C1orf167,MTHFR | c.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 |
1 | g.11787997T>A | CA416362021 | C1orf167,MTHFR | c.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 |
1 | g.11787997T>C | CA595059 | C1orf167,MTHFR | c.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 |
1 | g.11787997T>G | CA416362025 | C1orf167,MTHFR | c.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=) | |
1 | g.11787997T= | CA1140534983 | C1orf167,MTHFR | c.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=) | |
1 | g.11787998G>A | CA338469941 | C1orf167,MTHFR | c.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 |
1 | g.11787998G>C | CA17996033 | C1orf167,MTHFR | c.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 |
1 | g.11787998G= | CA1146379366 | C1orf167,MTHFR | c.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=) | |
1 | g.11787998G>T | CA338469942 | C1orf167,MTHFR | c.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 |
1 | g.11788003_11788009dup | CA595060 | C1orf167,MTHFR | c.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 |
1 | g.11788003_11788009del | CA2643295318 | C1orf167,MTHFR | c.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 |
1 | g.11787999A= | CA1153786604 | C1orf167,MTHFR | c.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=) | |
1 | g.11787999A>C | CA338469943 | C1orf167,MTHFR | c.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) | |
1 | g.11787999A>G | CA338469944 | C1orf167,MTHFR | c.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 |
1 | g.11787999A>T | CA338469945 | C1orf167,MTHFR | c.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) | |
1 | g.11788000G>A | CA416362030 | C1orf167,MTHFR | c.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 |
1 | g.11788000G>C | CA338469946 | C1orf167,MTHFR | c.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) | |
1 | g.11788000G>T | CA338469947 | C1orf167,MTHFR | c.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) | |
1 | g.11788001C>A | CA338469948 | C1orf167,MTHFR | c.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) | |
1 | g.11788001C>G | CA338469950 | C1orf167,MTHFR | c.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) | |
1 | g.11788001C>T | CA338469949 | C1orf167,MTHFR | c.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) | |
1 | g.11788002C>A | CA338469951 | C1orf167,MTHFR | c.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 |
1 | g.11788002C>G | CA338469952 | C1orf167,MTHFR | c.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) | |
1 | g.11788002C>T | CA338469953 | C1orf167,MTHFR | c.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) | |
1 | g.11788003C>A | CA416362034 | C1orf167,MTHFR | c.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 |
1 | g.11788003C= | CA1153786606 | C1orf167,MTHFR | c.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=) | |
1 | g.11788003C>G | CA416362035 | C1orf167,MTHFR | c.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=) | |
1 | g.11788003C>T | CA416362036 | C1orf167,MTHFR | c.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 |
1 | g.11788004A= | CA1153786610 | C1orf167,MTHFR | c.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=) | |
1 | g.11788004A>C | CA416362037 | C1orf167,MTHFR | c.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=) | |
1 | g.11788004A>G | CA595061 | C1orf167,MTHFR | c.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 |
1 | g.11788004A>T | CA338469954 | C1orf167,MTHFR | c.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) | |
1 | g.11788005G>A | CA338469955 | C1orf167,MTHFR | c.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) | |
1 | g.11788005G>C | CA338469956 | C1orf167,MTHFR | c.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 |
1 | g.11788005G>T | CA338469957 | C1orf167,MTHFR | c.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) | |
1 | g.11788006A= | CA1153786615 | C1orf167,MTHFR | c.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=) | |
1 | g.11788006A>C | CA338469958 | C1orf167,MTHFR | c.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) | |
1 | g.11788006A>G | CA17996039 | C1orf167,MTHFR | c.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 |
1 | g.11788006A>T | CA338469959 | C1orf167,MTHFR | c.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) | |
1 | g.11788007G>A | CA338469962 | C1orf167,MTHFR | c.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 |
1 | g.11788007G>C | CA338469961 | C1orf167,MTHFR | c.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) | |
1 | g.11788007G= | CA1153786618 | C1orf167,MTHFR | c.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=) | |
1 | g.11788007G>T | CA338469960 | C1orf167,MTHFR | c.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 |
1 | g.11788008C>A | CA338469964 | C1orf167,MTHFR | c.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 |
1 | g.11788008C= | CA1153786620 | C1orf167,MTHFR | c.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=) | |
1 | g.11788008C>G | CA17996040 | C1orf167,MTHFR | c.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 |
1 | g.11788008C>T | CA338469963 | C1orf167,MTHFR | c.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 |
1 | g.11788009C>A | CA17996051 | C1orf167,MTHFR | c.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 |
1 | g.11788009C= | CA1144347445 | C1orf167,MTHFR | c.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=) | |
1 | g.11788009C>G | CA416362043 | C1orf167,MTHFR | c.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=) | |
1 | g.11788009C>T | CA416362045 | C1orf167,MTHFR | c.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=) | |
1 | g.11788010T>A | CA338469966 | C1orf167,MTHFR | c.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) | |
1 | g.11788010T>C | CA338469967 | C1orf167,MTHFR | c.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 |
1 | g.11788010T>G | CA338469968 | C1orf167,MTHFR | c.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) | |
1 | g.11788010_11788025del | CA2574214321 | C1orf167,MTHFR | c.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) | |
1 | g.11788011G>A | CA338469970 | C1orf167,MTHFR | c.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 |
1 | g.11788011G>C | CA595062 | C1orf167,MTHFR | c.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 |
1 | g.11788011G= | CA1139878581 | C1orf167,MTHFR | c.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=) | |
1 | g.11788011G>T | CA338469969 | C1orf167,MTHFR | c.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) | |
1 | g.11788015_11788026del | CA2643295367 | C1orf167,MTHFR | c.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 |
1 | g.11788012C>A | CA338469971 | C1orf167,MTHFR | c.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 |
1 | g.11788012C= | CA1153786629 | C1orf167,MTHFR | c.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=) | |
1 | g.11788012C>G | CA338469972 | C1orf167,MTHFR | c.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 |
1 | g.11788012C>T | CA416362049 | C1orf167,MTHFR | c.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 |
1 | g.11788013A= | CA1153786632 | C1orf167,MTHFR | c.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=) | |
1 | g.11788013A>C | CA338469973 | C1orf167,MTHFR | c.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) | |
1 | g.11788013A>G | CA338469974 | C1orf167,MTHFR | c.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 |
1 | g.11788013A>T | CA338469975 | C1orf167,MTHFR | c.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 |
1 | g.11788014A= | CA1153786636 | C1orf167,MTHFR | c.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=) | |
1 | g.11788014A>C | CA338469976 | C1orf167,MTHFR | c.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) | |
1 | g.11788014A>G | CA338469978 | C1orf167,MTHFR | c.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 |
1 | g.11788014A>T | CA338469977 | C1orf167,MTHFR | c.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) | |
1 | g.11788015A>C | CA338469979 | C1orf167,MTHFR | c.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) | |
1 | g.11788015A>G | CA416362055 | C1orf167,MTHFR | c.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=) | |
1 | g.11788015A>T | CA338469980 | C1orf167,MTHFR | c.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) | |
1 | g.11788016G>A | CA338469981 | C1orf167,MTHFR | c.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) | |
1 | g.11788016G>C | CA338469982 | C1orf167,MTHFR | c.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 |
1 | g.11788016G= | CA1153786640 | C1orf167,MTHFR | c.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=) | |
1 | g.11788016G>T | CA338469983 | C1orf167,MTHFR | c.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 |
1 | g.11788017C>A | CA338469984 | C1orf167,MTHFR | c.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 |
1 | g.11788017C>G | CA338469985 | C1orf167,MTHFR | c.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) | |
1 | g.11788017C>T | CA338469986 | C1orf167,MTHFR | c.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) | |
1 | g.11788019del | CA2742479568 | C1orf167,MTHFR | c.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?) | |
1 | g.11788018C>A | CA416362060 | C1orf167,MTHFR | c.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 |
1 | g.11788018C>G | CA416362062 | C1orf167,MTHFR | c.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=) | |
1 | g.11788018C>T | CA416362065 | C1orf167,MTHFR | c.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=) | |
1 | g.11788019C>A | CA338469987 | C1orf167,MTHFR | c.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) | |
1 | g.11788019C= | CA1153786643 | C1orf167,MTHFR | c.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=) | |
1 | g.11788019C>G | CA338469988 | C1orf167,MTHFR | c.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) | |
1 | g.11788019C>T | CA17996080 | C1orf167,MTHFR | c.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 |
1 | g.11788020A>C | CA338469990 | C1orf167,MTHFR | c.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) | |
1 | g.11788020A>G | CA338469991 | C1orf167,MTHFR | c.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) | |
1 | g.11788020A>T | CA338469989 | C1orf167,MTHFR | c.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) | |
1 | g.11788021A>C | CA338469992 | C1orf167,MTHFR | c.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) | |
1 | g.11788021A>G | CA416362069 | C1orf167,MTHFR | c.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=) | |
1 | g.11788021A>T | CA338469993 | C1orf167,MTHFR | c.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) | |
1 | g.11788022A>C | CA338469994 | C1orf167,MTHFR | c.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) | |
1 | g.11788022A>G | CA338469996 | C1orf167,MTHFR | c.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) | |
1 | g.11788022A>T | CA338469995 | C1orf167,MTHFR | c.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) | |
1 | g.11788023G>A | CA595063 | C1orf167,MTHFR | c.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 |
1 | g.11788023G>C | CA17996096 | C1orf167,MTHFR | c.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 |
1 | g.11788023G= | CA1143778794 | C1orf167,MTHFR | c.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=) | |
1 | g.11788023G>T | CA338469997 | C1orf167,MTHFR | c.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) | |
1 | g.11788024C>A | CA338469998 | C1orf167,MTHFR | c.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 |
1 | g.11788024C= | CA1153786653 | C1orf167,MTHFR | c.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=) | |
1 | g.11788024C>G | CA338469999 | C1orf167,MTHFR | c.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 |
1 | g.11788024C>T | CA416362073 | C1orf167,MTHFR | c.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 |
1 | g.11788025A>C | CA338470000 | C1orf167,MTHFR | c.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) | |
1 | g.11788025A>G | CA338470001 | C1orf167,MTHFR | c.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 |
1 | g.11788025A>T | CA338470002 | C1orf167,MTHFR | c.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) | |
1 | g.11788026A= | CA1153786658 | C1orf167,MTHFR | c.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=) | |
1 | g.11788026A>C | CA338470003 | C1orf167,MTHFR | c.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 |
1 | g.11788026A>G | CA338470004 | C1orf167,MTHFR | c.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) | |
1 | g.11788026A>T | CA338470005 | C1orf167,MTHFR | c.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) | |
1 | g.11788027G>A | CA595064 | C1orf167,MTHFR | c.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 |
1 | g.11788027G>C | CA338470007 | C1orf167,MTHFR | c.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) | |
1 | g.11788027G= | CA1147069870 | C1orf167,MTHFR | c.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=) | |
1 | g.11788027G>T | CA338470006 | C1orf167,MTHFR | c.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) | |
1 | g.11788028dup | CA521454890 | C1orf167,MTHFR | c.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 |
1 | g.11788028G>A | CA338470008 | C1orf167,MTHFR | c.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 |
1 | g.11788028G>C | CA338470009 | C1orf167,MTHFR | c.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) | |
1 | g.11788028G>T | CA338470010 | C1orf167,MTHFR | c.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 |
1 | g.11788029C>A | CA338470011 | C1orf167,MTHFR | c.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 |
1 | g.11788029C= | CA1153786667 | C1orf167,MTHFR | c.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=) | |
1 | g.11788029C>G | CA338470012 | C1orf167,MTHFR | c.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) | |
1 | g.11788029C>T | CA338470013 | C1orf167,MTHFR | c.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 |
1 | g.11788031del | CA2643295424 | C1orf167,MTHFR | c.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 |
1 | g.11788030C>A | CA416362081 | C1orf167,MTHFR | c.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 |
1 | g.11788030C= | CA1153786671 | C1orf167,MTHFR | c.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=) | |
1 | g.11788030C>G | CA416362082 | C1orf167,MTHFR | c.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=) | |
1 | g.11788030C>T | CA416362083 | C1orf167,MTHFR | c.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 |
1 | g.11788031C>A | CA338470014 | C1orf167,MTHFR | c.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 |
1 | g.11788031C>G | CA338470015 | C1orf167,MTHFR | c.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) | |
1 | g.11788031C>T | CA338470016 | C1orf167,MTHFR | c.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) | |
1 | g.11788032A>C | CA338470017 | C1orf167,MTHFR | c.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) | |
1 | g.11788032A>G | CA338470018 | C1orf167,MTHFR | c.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 |
1 | g.11788032A>T | CA338470019 | C1orf167,MTHFR | c.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) | |
1 | g.11788033T>A | CA338470020 | C1orf167,MTHFR | c.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) | |
1 | g.11788033T>C | CA416361654 | C1orf167,MTHFR | c.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 |
1 | g.11788033T>G | CA338470021 | C1orf167,MTHFR | c.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) | |
1 | g.11788033T= | CA1153786675 | C1orf167,MTHFR | c.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=) | |
1 | g.11788034A>C | CA338470022 | C1orf167,MTHFR | c.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) | |
1 | g.11788034A>G | CA338470023 | C1orf167,MTHFR | c.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) | |
1 | g.11788034A>T | CA338470024 | C1orf167,MTHFR | c.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) | |
1 | g.11788035A>C | CA338470025 | C1orf167,MTHFR | c.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) | |
1 | g.11788035A>G | CA338470026 | C1orf167,MTHFR | c.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) | |
1 | g.11788035A>T | CA338470027 | C1orf167,MTHFR | c.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) | |
1 | g.11788036A>C | CA338470028 | C1orf167,MTHFR | c.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) | |
1 | g.11788036A>G | CA416361655 | C1orf167,MTHFR | c.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 |
1 | g.11788036A>T | CA338470029 | C1orf167,MTHFR | c.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) | |
1 | g.11788037C>A | CA416361656 | C1orf167,MTHFR | c.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 |
1 | g.11788037C= | CA1153786678 | C1orf167,MTHFR | c.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=) | |
1 | g.11788037C>G | CA338470030 | C1orf167,MTHFR | c.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) | |
1 | g.11788037C>T | CA338470031 | C1orf167,MTHFR | c.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 |
1 | g.11788038G>A | CA338470032 | C1orf167,MTHFR | c.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 |
1 | g.11788038G>C | CA338470033 | C1orf167,MTHFR | c.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) | |
1 | g.11788038G= | CA1153786682 | C1orf167,MTHFR | c.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=) | |
1 | g.11788038G>T | CA338470034 | C1orf167,MTHFR | c.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 |
1 | g.11788039G>A | CA416361657 | C1orf167,MTHFR | c.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=) | |
1 | g.11788039G>C | CA416361658 | C1orf167,MTHFR | c.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 |
1 | g.11788039G= | CA1153786689 | C1orf167,MTHFR | c.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=) | |
1 | g.11788039G>T | CA416361659 | C1orf167,MTHFR | c.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=) | |
1 | g.11788040A= | CA1153786693 | C1orf167,MTHFR | c.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=) | |
1 | g.11788040A>C | CA416361660 | C1orf167,MTHFR | c.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=) | |
1 | g.11788040A>G | CA338470036 | C1orf167,MTHFR | c.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) | |
1 | g.11788040A>T | CA338470035 | C1orf167,MTHFR | c.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 |
1 | g.11788041G>A | CA338470037 | C1orf167,MTHFR | c.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 |
1 | g.11788041G>C | CA338470038 | C1orf167,MTHFR | c.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) | |
1 | g.11788041G= | CA1153786697 | C1orf167,MTHFR | c.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=) | |
1 | g.11788041G>T | CA338470039 | C1orf167,MTHFR | c.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) | |
1 | g.11788042G>A | CA416361661 | C1orf167,MTHFR | c.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=) | |
1 | g.11788042G>C | CA338470040 | C1orf167,MTHFR | c.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) | |
1 | g.11788042G>T | CA338470041 | C1orf167,MTHFR | c.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) | |
1 | g.11788043C>A | CA338470042 | C1orf167,MTHFR | c.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 |
1 | g.11788043C= | CA1153786702 | C1orf167,MTHFR | c.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=) | |
1 | g.11788043C>G | CA338470043 | C1orf167,MTHFR | c.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 |
1 | g.11788043C>T | CA416361662 | C1orf167,MTHFR | c.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=) | |
1 | g.11788044T>A | CA338470044 | C1orf167,MTHFR | c.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) | |
1 | g.11788044T>C | CA338470045 | C1orf167,MTHFR | c.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 |
1 | g.11788044T>G | CA338470046 | C1orf167,MTHFR | c.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) | |
1 | g.11788045A>C | CA416361663 | C1orf167,MTHFR | c.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 |
1 | g.11788045A>G | CA416361664 | C1orf167,MTHFR | c.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 |
1 | g.11788045A>T | CA416361665 | C1orf167,MTHFR | c.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=) | |
1 | g.11788046C>A | CA416361666 | C1orf167,MTHFR | c.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 |
1 | g.11788046C= | CA1153786704 | C1orf167,MTHFR | c.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=) | |
1 | g.11788046C>G | CA338470047 | C1orf167,MTHFR | c.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) | |
1 | g.11788046C>T | CA338470048 | C1orf167,MTHFR | c.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 |
1 | g.11788047G>A | CA338470051 | C1orf167,MTHFR | c.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 |
1 | g.11788047G>C | CA338470050 | C1orf167,MTHFR | c.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) | |
1 | g.11788047G= | CA1153786707 | C1orf167,MTHFR | c.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=) | |
1 | g.11788047G>T | CA338470049 | C1orf167,MTHFR | c.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 |
1 | g.11788048G>A | CA338470052 | C1orf167,MTHFR | c.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 |
1 | g.11788048G>C | CA338470054 | C1orf167,MTHFR | c.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) | |
1 | g.11788048G>T | CA338470053 | C1orf167,MTHFR | c.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 |
1 | g.11788050_11788063del | CA2695357656 | C1orf167,MTHFR | c.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 |
1 | g.11788049T>A | CA338470055 | C1orf167,MTHFR | c.3362+2T>A (n.3362+2T>A) c.3848+2T>A (n.3848+2T>A) c.*2631A>T (n.*2631A>T) c.1998+2T>A c.4725A>T (n.4725A>T) c.3920+2T>A (n.3920+2T>A) c.1347+2T>A c.1177+2T>A n.236+2T>A c.3983+2T>A (n.3983+2T>A) c.3929+2T>A (n.3929+2T>A) c.3575+2T>A (n.3575+2T>A) c.2264+2T>A (n.2264+2T>A) | |
1 | g.11788049T>C | CA338470056 | C1orf167,MTHFR | c.3362+2T>C (n.3362+2T>C) c.3848+2T>C (n.3848+2T>C) c.*2631A>G (n.*2631A>G) c.1998+2T>C c.4725A>G (n.4725A>G) c.3920+2T>C (n.3920+2T>C) c.1347+2T>C c.1177+2T>C n.236+2T>C c.3983+2T>C (n.3983+2T>C) c.3929+2T>C (n.3929+2T>C) c.3575+2T>C (n.3575+2T>C) c.2264+2T>C (n.2264+2T>C) | |
1 | g.11788049T>G | CA338470057 | C1orf167,MTHFR | c.3362+2T>G (n.3362+2T>G) c.3848+2T>G (n.3848+2T>G) c.*2631A>C (n.*2631A>C) c.1998+2T>G c.4725A>C (n.4725A>C) c.3920+2T>G (n.3920+2T>G) c.1347+2T>G c.1177+2T>G n.236+2T>G c.3983+2T>G (n.3983+2T>G) c.3929+2T>G (n.3929+2T>G) c.3575+2T>G (n.3575+2T>G) c.2264+2T>G (n.2264+2T>G) |