| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11787911T>A | CA338469642 | C1orf167,MTHFR | c.3226T>A (p.Trp1076Arg) c.3712T>A (p.Trp1238Arg) c.*2769A>T (n.*2769A>T) c.1862T>A c.4863A>T (n.4863A>T) c.3784T>A (p.Trp1262Arg) c.1211T>A c.1041T>A n.643T>A n.100T>A c.3847T>A (p.Trp1283Arg) c.3793T>A (p.Trp1265Arg) c.3439T>A (p.Trp1147Arg) c.2128T>A (p.Trp710Arg) | |
| 1 | g.11787911T>C | CA338469644 | C1orf167,MTHFR | c.3226T>C (p.Trp1076Arg) c.3712T>C (p.Trp1238Arg) c.*2769A>G (n.*2769A>G) c.1862T>C c.4863A>G (n.4863A>G) c.3784T>C (p.Trp1262Arg) c.1211T>C c.1041T>C n.643T>C n.100T>C c.3847T>C (p.Trp1283Arg) c.3793T>C (p.Trp1265Arg) c.3439T>C (p.Trp1147Arg) c.2128T>C (p.Trp710Arg) | |
| 1 | g.11787911T>G | CA338469646 | C1orf167,MTHFR | c.3226T>G (p.Trp1076Gly) c.3712T>G (p.Trp1238Gly) c.*2769A>C (n.*2769A>C) c.1862T>G c.4863A>C (n.4863A>C) c.3784T>G (p.Trp1262Gly) c.1211T>G c.1041T>G n.643T>G n.100T>G c.3847T>G (p.Trp1283Gly) c.3793T>G (p.Trp1265Gly) c.3439T>G (p.Trp1147Gly) c.2128T>G (p.Trp710Gly) | |
| 1 | g.11787912G>A | CA595055 | C1orf167,MTHFR | c.3227G>A (p.Trp1076Ter) c.3713G>A (p.Trp1238Ter) c.*2768C>T (n.*2768C>T) c.1863G>A c.4862C>T (n.4862C>T) c.3785G>A (p.Trp1262Ter) c.1212G>A c.1042G>A n.644G>A n.101G>A c.3848G>A (p.Trp1283Ter) c.3794G>A (p.Trp1265Ter) c.3440G>A (p.Trp1147Ter) c.2129G>A (p.Trp710Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11787912G>C | CA338469650 | C1orf167,MTHFR | c.3227G>C (p.Trp1076Ser) c.3713G>C (p.Trp1238Ser) c.*2768C>G (n.*2768C>G) c.1863G>C c.4862C>G (n.4862C>G) c.3785G>C (p.Trp1262Ser) c.1212G>C c.1042G>C n.644G>C n.101G>C c.3848G>C (p.Trp1283Ser) c.3794G>C (p.Trp1265Ser) c.3440G>C (p.Trp1147Ser) c.2129G>C (p.Trp710Ser) | gnomAD v4 |
| 1 | g.11787912G= | CA1153786425 | C1orf167,MTHFR | c.3227G= (p.Trp1076=) c.3713G= (p.Trp1238=) c.*2768C= (n.*2768C=) c.1863G= c.4862C= (n.4862C=) c.3785G= (p.Trp1262=) c.1212G= c.1042G= n.644G= n.101G= c.3848G= (p.Trp1283=) c.3794G= (p.Trp1265=) c.3440G= (p.Trp1147=) c.2129G= (p.Trp710=) | |
| 1 | g.11787912G>T | CA338469649 | C1orf167,MTHFR | c.3227G>T (p.Trp1076Leu) c.3713G>T (p.Trp1238Leu) c.*2768C>A (n.*2768C>A) c.1863G>T c.4862C>A (n.4862C>A) c.3785G>T (p.Trp1262Leu) c.1212G>T c.1042G>T n.644G>T n.101G>T c.3848G>T (p.Trp1283Leu) c.3794G>T (p.Trp1265Leu) c.3440G>T (p.Trp1147Leu) c.2129G>T (p.Trp710Leu) | gnomAD v4 |
| 1 | g.11787913G>A | CA338469654 | C1orf167,MTHFR | c.3228G>A (p.Trp1076Ter) c.3714G>A (p.Trp1238Ter) c.*2767C>T (n.*2767C>T) c.1864G>A c.4861C>T (n.4861C>T) c.3786G>A (p.Trp1262Ter) c.1213G>A c.1043G>A n.645G>A n.102G>A c.3849G>A (p.Trp1283Ter) c.3795G>A (p.Trp1265Ter) c.3441G>A (p.Trp1147Ter) c.2130G>A (p.Trp710Ter) | gnomAD v4 |
| 1 | g.11787913G>C | CA338469657 | C1orf167,MTHFR | c.3228G>C (p.Trp1076Cys) c.3714G>C (p.Trp1238Cys) c.*2767C>G (n.*2767C>G) c.1864G>C c.4861C>G (n.4861C>G) c.3786G>C (p.Trp1262Cys) c.1213G>C c.1043G>C n.645G>C n.102G>C c.3849G>C (p.Trp1283Cys) c.3795G>C (p.Trp1265Cys) c.3441G>C (p.Trp1147Cys) c.2130G>C (p.Trp710Cys) | gnomAD v4 |
| 1 | g.11787913G>T | CA338469655 | C1orf167,MTHFR | c.3228G>T (p.Trp1076Cys) c.3714G>T (p.Trp1238Cys) c.*2767C>A (n.*2767C>A) c.1864G>T c.4861C>A (n.4861C>A) c.3786G>T (p.Trp1262Cys) c.1213G>T c.1043G>T n.645G>T n.102G>T c.3849G>T (p.Trp1283Cys) c.3795G>T (p.Trp1265Cys) c.3441G>T (p.Trp1147Cys) c.2130G>T (p.Trp710Cys) | gnomAD v4 |
| 1 | g.11787914C>A | CA338469660 | C1orf167,MTHFR | c.3229C>A (p.Pro1077Thr) c.3715C>A (p.Pro1239Thr) c.*2766G>T (n.*2766G>T) c.1865C>A c.4860G>T (n.4860G>T) c.3787C>A (p.Pro1263Thr) c.1214C>A c.1044C>A n.646C>A n.103C>A c.3850C>A (p.Pro1284Thr) c.3796C>A (p.Pro1266Thr) c.3442C>A (p.Pro1148Thr) c.2131C>A (p.Pro711Thr) | gnomAD v4 |
| 1 | g.11787914C>G | CA338469664 | C1orf167,MTHFR | c.3229C>G (p.Pro1077Ala) c.3715C>G (p.Pro1239Ala) c.*2766G>C (n.*2766G>C) c.1865C>G c.4860G>C (n.4860G>C) c.3787C>G (p.Pro1263Ala) c.1214C>G c.1044C>G n.646C>G n.103C>G c.3850C>G (p.Pro1284Ala) c.3796C>G (p.Pro1266Ala) c.3442C>G (p.Pro1148Ala) c.2131C>G (p.Pro711Ala) | |
| 1 | g.11787914C>T | CA338469662 | C1orf167,MTHFR | c.3229C>T (p.Pro1077Ser) c.3715C>T (p.Pro1239Ser) c.*2766G>A (n.*2766G>A) c.1865C>T c.4860G>A (n.4860G>A) c.3787C>T (p.Pro1263Ser) c.1214C>T c.1044C>T n.646C>T n.103C>T c.3850C>T (p.Pro1284Ser) c.3796C>T (p.Pro1266Ser) c.3442C>T (p.Pro1148Ser) c.2131C>T (p.Pro711Ser) | gnomAD v4 COSMIC COSMIC |
| 1 | g.11787915del | CA2643295212 | C1orf167,MTHFR | c.3230del (p.Pro1077HisfsTer?) c.3716del (p.Pro1239HisfsTer?) c.*2766del (n.*2766del) c.1866del c.4860del (n.4860del) c.3788del (p.Pro1263HisfsTer?) c.1215del c.1045del n.647del n.104del c.3851del (p.Pro1284HisfsTer?) c.3797del (p.Pro1266HisfsTer?) c.3443del (p.Pro1148HisfsTer?) c.2132del (p.Pro711HisfsTer?) | gnomAD v4 |
| 1 | g.11787915C>A | CA338469667 | C1orf167,MTHFR | c.3230C>A (p.Pro1077Gln) c.3716C>A (p.Pro1239Gln) c.*2765G>T (n.*2765G>T) c.1866C>A c.4859G>T (n.4859G>T) c.3788C>A (p.Pro1263Gln) c.1215C>A c.1045C>A n.647C>A n.104C>A c.3851C>A (p.Pro1284Gln) c.3797C>A (p.Pro1266Gln) c.3443C>A (p.Pro1148Gln) c.2132C>A (p.Pro711Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11787915C= | CA1153786430 | C1orf167,MTHFR | c.3230C= (p.Pro1077=) c.3716C= (p.Pro1239=) c.*2765G= (n.*2765G=) c.1866C= c.4859G= (n.4859G=) c.3788C= (p.Pro1263=) c.1215C= c.1045C= n.647C= n.104C= c.3851C= (p.Pro1284=) c.3797C= (p.Pro1266=) c.3443C= (p.Pro1148=) c.2132C= (p.Pro711=) | |
| 1 | g.11787915C>G | CA338469669 | C1orf167,MTHFR | c.3230C>G (p.Pro1077Arg) c.3716C>G (p.Pro1239Arg) c.*2765G>C (n.*2765G>C) c.1866C>G c.4859G>C (n.4859G>C) c.3788C>G (p.Pro1263Arg) c.1215C>G c.1045C>G n.647C>G n.104C>G c.3851C>G (p.Pro1284Arg) c.3797C>G (p.Pro1266Arg) c.3443C>G (p.Pro1148Arg) c.2132C>G (p.Pro711Arg) | |
| 1 | g.11787915C>T | CA338469671 | C1orf167,MTHFR | c.3230C>T (p.Pro1077Leu) c.3716C>T (p.Pro1239Leu) c.*2765G>A (n.*2765G>A) c.1866C>T c.4859G>A (n.4859G>A) c.3788C>T (p.Pro1263Leu) c.1215C>T c.1045C>T n.647C>T n.104C>T c.3851C>T (p.Pro1284Leu) c.3797C>T (p.Pro1266Leu) c.3443C>T (p.Pro1148Leu) c.2132C>T (p.Pro711Leu) | |
| 1 | g.11787916A>C | CA416361871 | C1orf167,MTHFR | c.3231A>C (p.Pro1077=) c.3717A>C (p.Pro1239=) c.*2764T>G (n.*2764T>G) c.1867A>C c.4858T>G (n.4858T>G) c.3789A>C (p.Pro1263=) c.1216A>C c.1046A>C n.648A>C n.105A>C c.3852A>C (p.Pro1284=) c.3798A>C (p.Pro1266=) c.3444A>C (p.Pro1148=) c.2133A>C (p.Pro711=) | |
| 1 | g.11787916A>G | CA416361872 | C1orf167,MTHFR | c.3231A>G (p.Pro1077=) c.3717A>G (p.Pro1239=) c.*2764T>C (n.*2764T>C) c.1867A>G c.4858T>C (n.4858T>C) c.3789A>G (p.Pro1263=) c.1216A>G c.1046A>G n.648A>G n.105A>G c.3852A>G (p.Pro1284=) c.3798A>G (p.Pro1266=) c.3444A>G (p.Pro1148=) c.2133A>G (p.Pro711=) | |
| 1 | g.11787916A>T | CA416361874 | C1orf167,MTHFR | c.3231A>T (p.Pro1077=) c.3717A>T (p.Pro1239=) c.*2764T>A (n.*2764T>A) c.1867A>T c.4858T>A (n.4858T>A) c.3789A>T (p.Pro1263=) c.1216A>T c.1046A>T n.648A>T n.105A>T c.3852A>T (p.Pro1284=) c.3798A>T (p.Pro1266=) c.3444A>T (p.Pro1148=) c.2133A>T (p.Pro711=) | |
| 1 | g.11787917C>A | CA338469674 | C1orf167,MTHFR | c.3232C>A (p.Gln1078Lys) c.3718C>A (p.Gln1240Lys) c.*2763G>T (n.*2763G>T) c.1868C>A c.4857G>T (n.4857G>T) c.3790C>A (p.Gln1264Lys) c.1217C>A c.1047C>A n.649C>A n.106C>A c.3853C>A (p.Gln1285Lys) c.3799C>A (p.Gln1267Lys) c.3445C>A (p.Gln1149Lys) c.2134C>A (p.Gln712Lys) | gnomAD v4 |
| 1 | g.11787917C>G | CA338469676 | C1orf167,MTHFR | c.3232C>G (p.Gln1078Glu) c.3718C>G (p.Gln1240Glu) c.*2763G>C (n.*2763G>C) c.1868C>G c.4857G>C (n.4857G>C) c.3790C>G (p.Gln1264Glu) c.1217C>G c.1047C>G n.649C>G n.106C>G c.3853C>G (p.Gln1285Glu) c.3799C>G (p.Gln1267Glu) c.3445C>G (p.Gln1149Glu) c.2134C>G (p.Gln712Glu) | |
| 1 | g.11787917C>T | CA338469678 | C1orf167,MTHFR | c.3232C>T (p.Gln1078Ter) c.3718C>T (p.Gln1240Ter) c.*2763G>A (n.*2763G>A) c.1868C>T c.4857G>A (n.4857G>A) c.3790C>T (p.Gln1264Ter) c.1217C>T c.1047C>T n.649C>T n.106C>T c.3853C>T (p.Gln1285Ter) c.3799C>T (p.Gln1267Ter) c.3445C>T (p.Gln1149Ter) c.2134C>T (p.Gln712Ter) | gnomAD v4 |
| 1 | g.11787918A>C | CA338469681 | C1orf167,MTHFR | c.3233A>C (p.Gln1078Pro) c.3719A>C (p.Gln1240Pro) c.*2762T>G (n.*2762T>G) c.1869A>C c.4856T>G (n.4856T>G) c.3791A>C (p.Gln1264Pro) c.1218A>C c.1048A>C n.650A>C n.107A>C c.3854A>C (p.Gln1285Pro) c.3800A>C (p.Gln1267Pro) c.3446A>C (p.Gln1149Pro) c.2135A>C (p.Gln712Pro) | |
| 1 | g.11787918A>G | CA338469683 | C1orf167,MTHFR | c.3233A>G (p.Gln1078Arg) c.3719A>G (p.Gln1240Arg) c.*2762T>C (n.*2762T>C) c.1869A>G c.4856T>C (n.4856T>C) c.3791A>G (p.Gln1264Arg) c.1218A>G c.1048A>G n.650A>G n.107A>G c.3854A>G (p.Gln1285Arg) c.3800A>G (p.Gln1267Arg) c.3446A>G (p.Gln1149Arg) c.2135A>G (p.Gln712Arg) | |
| 1 | g.11787918A>T | CA338469685 | C1orf167,MTHFR | c.3233A>T (p.Gln1078Leu) c.3719A>T (p.Gln1240Leu) c.*2762T>A (n.*2762T>A) c.1869A>T c.4856T>A (n.4856T>A) c.3791A>T (p.Gln1264Leu) c.1218A>T c.1048A>T n.650A>T n.107A>T c.3854A>T (p.Gln1285Leu) c.3800A>T (p.Gln1267Leu) c.3446A>T (p.Gln1149Leu) c.2135A>T (p.Gln712Leu) | |
| 1 | g.11787919G>A | CA416361876 | C1orf167,MTHFR | c.3234G>A (p.Gln1078=) c.3720G>A (p.Gln1240=) c.*2761C>T (n.*2761C>T) c.1870G>A c.4855C>T (n.4855C>T) c.3792G>A (p.Gln1264=) c.1219G>A c.1049G>A n.651G>A n.108G>A c.3855G>A (p.Gln1285=) c.3801G>A (p.Gln1267=) c.3447G>A (p.Gln1149=) c.2136G>A (p.Gln712=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11787919G>C | CA338469686 | C1orf167,MTHFR | c.3234G>C (p.Gln1078His) c.3720G>C (p.Gln1240His) c.*2761C>G (n.*2761C>G) c.1870G>C c.4855C>G (n.4855C>G) c.3792G>C (p.Gln1264His) c.1219G>C c.1049G>C n.651G>C n.108G>C c.3855G>C (p.Gln1285His) c.3801G>C (p.Gln1267His) c.3447G>C (p.Gln1149His) c.2136G>C (p.Gln712His) | |
| 1 | g.11787919G= | CA1153786441 | C1orf167,MTHFR | c.3234G= (p.Gln1078=) c.3720G= (p.Gln1240=) c.*2761C= (n.*2761C=) c.1870G= c.4855C= (n.4855C=) c.3792G= (p.Gln1264=) c.1219G= c.1049G= n.651G= n.108G= c.3855G= (p.Gln1285=) c.3801G= (p.Gln1267=) c.3447G= (p.Gln1149=) c.2136G= (p.Gln712=) | |
| 1 | g.11787919G>T | CA338469687 | C1orf167,MTHFR | c.3234G>T (p.Gln1078His) c.3720G>T (p.Gln1240His) c.*2761C>A (n.*2761C>A) c.1870G>T c.4855C>A (n.4855C>A) c.3792G>T (p.Gln1264His) c.1219G>T c.1049G>T n.651G>T n.108G>T c.3855G>T (p.Gln1285His) c.3801G>T (p.Gln1267His) c.3447G>T (p.Gln1149His) c.2136G>T (p.Gln712His) | |
| 1 | g.11787920T>A | CA338469693 | C1orf167,MTHFR | c.3235T>A (p.Trp1079Arg) c.3721T>A (p.Trp1241Arg) c.*2760A>T (n.*2760A>T) c.1871T>A c.4854A>T (n.4854A>T) c.3793T>A (p.Trp1265Arg) c.1220T>A c.1050T>A n.652T>A n.109T>A c.3856T>A (p.Trp1286Arg) c.3802T>A (p.Trp1268Arg) c.3448T>A (p.Trp1150Arg) c.2137T>A (p.Trp713Arg) | gnomAD v4 |
| 1 | g.11787920T>C | CA338469691 | C1orf167,MTHFR | c.3235T>C (p.Trp1079Arg) c.3721T>C (p.Trp1241Arg) c.*2760A>G (n.*2760A>G) c.1871T>C c.4854A>G (n.4854A>G) c.3793T>C (p.Trp1265Arg) c.1220T>C c.1050T>C n.652T>C n.109T>C c.3856T>C (p.Trp1286Arg) c.3802T>C (p.Trp1268Arg) c.3448T>C (p.Trp1150Arg) c.2137T>C (p.Trp713Arg) | gnomAD v4 |
| 1 | g.11787920T>G | CA338469689 | C1orf167,MTHFR | c.3235T>G (p.Trp1079Gly) c.3721T>G (p.Trp1241Gly) c.*2760A>C (n.*2760A>C) c.1871T>G c.4854A>C (n.4854A>C) c.3793T>G (p.Trp1265Gly) c.1220T>G c.1050T>G n.652T>G n.109T>G c.3856T>G (p.Trp1286Gly) c.3802T>G (p.Trp1268Gly) c.3448T>G (p.Trp1150Gly) c.2137T>G (p.Trp713Gly) | |
| 1 | g.11787921G>A | CA338469695 | C1orf167,MTHFR | c.3236G>A (p.Trp1079Ter) c.3722G>A (p.Trp1241Ter) c.*2759C>T (n.*2759C>T) c.1872G>A c.4853C>T (n.4853C>T) c.3794G>A (p.Trp1265Ter) c.1221G>A c.1051G>A n.653G>A n.110G>A c.3857G>A (p.Trp1286Ter) c.3803G>A (p.Trp1268Ter) c.3449G>A (p.Trp1150Ter) c.2138G>A (p.Trp713Ter) | |
| 1 | g.11787921G>C | CA338469697 | C1orf167,MTHFR | c.3236G>C (p.Trp1079Ser) c.3722G>C (p.Trp1241Ser) c.*2759C>G (n.*2759C>G) c.1872G>C c.4853C>G (n.4853C>G) c.3794G>C (p.Trp1265Ser) c.1221G>C c.1051G>C n.653G>C n.110G>C c.3857G>C (p.Trp1286Ser) c.3803G>C (p.Trp1268Ser) c.3449G>C (p.Trp1150Ser) c.2138G>C (p.Trp713Ser) | gnomAD v4 |
| 1 | g.11787921G>T | CA338469700 | C1orf167,MTHFR | c.3236G>T (p.Trp1079Leu) c.3722G>T (p.Trp1241Leu) c.*2759C>A (n.*2759C>A) c.1872G>T c.4853C>A (n.4853C>A) c.3794G>T (p.Trp1265Leu) c.1221G>T c.1051G>T n.653G>T n.110G>T c.3857G>T (p.Trp1286Leu) c.3803G>T (p.Trp1268Leu) c.3449G>T (p.Trp1150Leu) c.2138G>T (p.Trp713Leu) | |
| 1 | g.11787922G>A | CA338469703 | C1orf167,MTHFR | c.3237G>A (p.Trp1079Ter) c.3723G>A (p.Trp1241Ter) c.*2758C>T (n.*2758C>T) c.1873G>A c.4852C>T (n.4852C>T) c.3795G>A (p.Trp1265Ter) c.1222G>A c.1052G>A n.654G>A n.111G>A c.3858G>A (p.Trp1286Ter) c.3804G>A (p.Trp1268Ter) c.3450G>A (p.Trp1150Ter) c.2139G>A (p.Trp713Ter) | |
| 1 | g.11787922G>C | CA338469705 | C1orf167,MTHFR | c.3237G>C (p.Trp1079Cys) c.3723G>C (p.Trp1241Cys) c.*2758C>G (n.*2758C>G) c.1873G>C c.4852C>G (n.4852C>G) c.3795G>C (p.Trp1265Cys) c.1222G>C c.1052G>C n.654G>C n.111G>C c.3858G>C (p.Trp1286Cys) c.3804G>C (p.Trp1268Cys) c.3450G>C (p.Trp1150Cys) c.2139G>C (p.Trp713Cys) | |
| 1 | g.11787922G>T | CA338469707 | C1orf167,MTHFR | c.3237G>T (p.Trp1079Cys) c.3723G>T (p.Trp1241Cys) c.*2758C>A (n.*2758C>A) c.1873G>T c.4852C>A (n.4852C>A) c.3795G>T (p.Trp1265Cys) c.1222G>T c.1052G>T n.654G>T n.111G>T c.3858G>T (p.Trp1286Cys) c.3804G>T (p.Trp1268Cys) c.3450G>T (p.Trp1150Cys) c.2139G>T (p.Trp713Cys) | gnomAD v4 |
| 1 | g.11787923C>A | CA338469710 | C1orf167,MTHFR | c.3238C>A (p.Pro1080Thr) c.3724C>A (p.Pro1242Thr) c.*2757G>T (n.*2757G>T) c.1874C>A c.4851G>T (n.4851G>T) c.3796C>A (p.Pro1266Thr) c.1223C>A c.1053C>A n.655C>A n.112C>A c.3859C>A (p.Pro1287Thr) c.3805C>A (p.Pro1269Thr) c.3451C>A (p.Pro1151Thr) c.2140C>A (p.Pro714Thr) | gnomAD v4 |
| 1 | g.11787923C= | CA1153786446 | C1orf167,MTHFR | c.3238C= (p.Pro1080=) c.3724C= (p.Pro1242=) c.*2757G= (n.*2757G=) c.1874C= c.4851G= (n.4851G=) c.3796C= (p.Pro1266=) c.1223C= c.1053C= n.655C= n.112C= c.3859C= (p.Pro1287=) c.3805C= (p.Pro1269=) c.3451C= (p.Pro1151=) c.2140C= (p.Pro714=) | |
| 1 | g.11787923C>G | CA338469712 | C1orf167,MTHFR | c.3238C>G (p.Pro1080Ala) c.3724C>G (p.Pro1242Ala) c.*2757G>C (n.*2757G>C) c.1874C>G c.4851G>C (n.4851G>C) c.3796C>G (p.Pro1266Ala) c.1223C>G c.1053C>G n.655C>G n.112C>G c.3859C>G (p.Pro1287Ala) c.3805C>G (p.Pro1269Ala) c.3451C>G (p.Pro1151Ala) c.2140C>G (p.Pro714Ala) | gnomAD v4 |
| 1 | g.11787923C>T | CA338469714 | C1orf167,MTHFR | c.3238C>T (p.Pro1080Ser) c.3724C>T (p.Pro1242Ser) c.*2757G>A (n.*2757G>A) c.1874C>T c.4851G>A (n.4851G>A) c.3796C>T (p.Pro1266Ser) c.1223C>T c.1053C>T n.655C>T n.112C>T c.3859C>T (p.Pro1287Ser) c.3805C>T (p.Pro1269Ser) c.3451C>T (p.Pro1151Ser) c.2140C>T (p.Pro714Ser) | dbSNP gnomAD v2 |
| 1 | g.11787924C>A | CA338469715 | C1orf167,MTHFR | c.3239C>A (p.Pro1080His) c.3725C>A (p.Pro1242His) c.*2756G>T (n.*2756G>T) c.1875C>A c.4850G>T (n.4850G>T) c.3797C>A (p.Pro1266His) c.1224C>A c.1054C>A n.656C>A n.113C>A c.3860C>A (p.Pro1287His) c.3806C>A (p.Pro1269His) c.3452C>A (p.Pro1151His) c.2141C>A (p.Pro714His) | |
| 1 | g.11787924C>G | CA338469717 | C1orf167,MTHFR | c.3239C>G (p.Pro1080Arg) c.3725C>G (p.Pro1242Arg) c.*2756G>C (n.*2756G>C) c.1875C>G c.4850G>C (n.4850G>C) c.3797C>G (p.Pro1266Arg) c.1224C>G c.1054C>G n.656C>G n.113C>G c.3860C>G (p.Pro1287Arg) c.3806C>G (p.Pro1269Arg) c.3452C>G (p.Pro1151Arg) c.2141C>G (p.Pro714Arg) | |
| 1 | g.11787924C>T | CA338469719 | C1orf167,MTHFR | c.3239C>T (p.Pro1080Leu) c.3725C>T (p.Pro1242Leu) c.*2756G>A (n.*2756G>A) c.1875C>T c.4850G>A (n.4850G>A) c.3797C>T (p.Pro1266Leu) c.1224C>T c.1054C>T n.656C>T n.113C>T c.3860C>T (p.Pro1287Leu) c.3806C>T (p.Pro1269Leu) c.3452C>T (p.Pro1151Leu) c.2141C>T (p.Pro714Leu) | |
| 1 | g.11787925T>A | CA416361885 | C1orf167,MTHFR | c.3240T>A (p.Pro1080=) c.3726T>A (p.Pro1242=) c.*2755A>T (n.*2755A>T) c.1876T>A c.4849A>T (n.4849A>T) c.3798T>A (p.Pro1266=) c.1225T>A c.1055T>A n.657T>A n.114T>A c.3861T>A (p.Pro1287=) c.3807T>A (p.Pro1269=) c.3453T>A (p.Pro1151=) c.2142T>A (p.Pro714=) | |
| 1 | g.11787925T>C | CA17995927 | C1orf167,MTHFR | c.3240T>C (p.Pro1080=) c.3726T>C (p.Pro1242=) c.*2755A>G (n.*2755A>G) c.1876T>C c.4849A>G (n.4849A>G) c.3798T>C (p.Pro1266=) c.1225T>C c.1055T>C n.657T>C n.114T>C c.3861T>C (p.Pro1287=) c.3807T>C (p.Pro1269=) c.3453T>C (p.Pro1151=) c.2142T>C (p.Pro714=) | dbSNP gnomAD v4 |
| 1 | g.11787925T>G | CA416361887 | C1orf167,MTHFR | c.3240T>G (p.Pro1080=) c.3726T>G (p.Pro1242=) c.*2755A>C (n.*2755A>C) c.1876T>G c.4849A>C (n.4849A>C) c.3798T>G (p.Pro1266=) c.1225T>G c.1055T>G n.657T>G n.114T>G c.3861T>G (p.Pro1287=) c.3807T>G (p.Pro1269=) c.3453T>G (p.Pro1151=) c.2142T>G (p.Pro714=) |