UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11787481G>A | CA338469327 | C1orf167,MTHFR | c.3175G>A (p.Ala1059Thr) c.3661G>A (p.Ala1221Thr) c.*3199C>T (n.*3199C>T) c.1811G>A c.5293C>T (n.5293C>T) c.3733G>A (p.Ala1245Thr) c.1160G>A c.990G>A n.213G>A c.3796G>A (p.Ala1266Thr) c.3742G>A (p.Ala1248Thr) c.3388G>A (p.Ala1130Thr) c.2077G>A (p.Ala693Thr) | |
| 1 | g.11787481G>C | CA338469328 | C1orf167,MTHFR | c.3175G>C (p.Ala1059Pro) c.3661G>C (p.Ala1221Pro) c.*3199C>G (n.*3199C>G) c.1811G>C c.5293C>G (n.5293C>G) c.3733G>C (p.Ala1245Pro) c.1160G>C c.990G>C n.213G>C c.3796G>C (p.Ala1266Pro) c.3742G>C (p.Ala1248Pro) c.3388G>C (p.Ala1130Pro) c.2077G>C (p.Ala693Pro) | |
| 1 | g.11787481G= | CA1153785920 | C1orf167,MTHFR | c.3175G= (p.Ala1059=) c.3661G= (p.Ala1221=) c.*3199C= (n.*3199C=) c.1811G= c.5293C= (n.5293C=) c.3733G= (p.Ala1245=) c.1160G= c.990G= n.213G= c.3796G= (p.Ala1266=) c.3742G= (p.Ala1248=) c.3388G= (p.Ala1130=) c.2077G= (p.Ala693=) | |
| 1 | g.11787481G>T | CA338469329 | C1orf167,MTHFR | c.3175G>T (p.Ala1059Ser) c.3661G>T (p.Ala1221Ser) c.*3199C>A (n.*3199C>A) c.1811G>T c.5293C>A (n.5293C>A) c.3733G>T (p.Ala1245Ser) c.1160G>T c.990G>T n.213G>T c.3796G>T (p.Ala1266Ser) c.3742G>T (p.Ala1248Ser) c.3388G>T (p.Ala1130Ser) c.2077G>T (p.Ala693Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11787482C>A | CA338469330 | C1orf167,MTHFR | c.3176C>A (p.Ala1059Asp) c.3662C>A (p.Ala1221Asp) c.*3198G>T (n.*3198G>T) c.1812C>A c.5292G>T (n.5292G>T) c.3734C>A (p.Ala1245Asp) c.1161C>A c.991C>A n.214C>A c.3797C>A (p.Ala1266Asp) c.3743C>A (p.Ala1248Asp) c.3389C>A (p.Ala1130Asp) c.2078C>A (p.Ala693Asp) | gnomAD v4 |
| 1 | g.11787482C= | CA1153785923 | C1orf167,MTHFR | c.3176C= (p.Ala1059=) c.3662C= (p.Ala1221=) c.*3198G= (n.*3198G=) c.1812C= c.5292G= (n.5292G=) c.3734C= (p.Ala1245=) c.1161C= c.991C= n.214C= c.3797C= (p.Ala1266=) c.3743C= (p.Ala1248=) c.3389C= (p.Ala1130=) c.2078C= (p.Ala693=) | |
| 1 | g.11787482C>G | CA338469331 | C1orf167,MTHFR | c.3176C>G (p.Ala1059Gly) c.3662C>G (p.Ala1221Gly) c.*3198G>C (n.*3198G>C) c.1812C>G c.5292G>C (n.5292G>C) c.3734C>G (p.Ala1245Gly) c.1161C>G c.991C>G n.214C>G c.3797C>G (p.Ala1266Gly) c.3743C>G (p.Ala1248Gly) c.3389C>G (p.Ala1130Gly) c.2078C>G (p.Ala693Gly) | |
| 1 | g.11787482C>T | CA338469332 | C1orf167,MTHFR | c.3176C>T (p.Ala1059Val) c.3662C>T (p.Ala1221Val) c.*3198G>A (n.*3198G>A) c.1812C>T c.5292G>A (n.5292G>A) c.3734C>T (p.Ala1245Val) c.1161C>T c.991C>T n.214C>T c.3797C>T (p.Ala1266Val) c.3743C>T (p.Ala1248Val) c.3389C>T (p.Ala1130Val) c.2078C>T (p.Ala693Val) | dbSNP |
| 1 | g.11787483C>A | CA416118856 | C1orf167,MTHFR | c.3177C>A (p.Ala1059=) c.3663C>A (p.Ala1221=) c.*3197G>T (n.*3197G>T) c.1813C>A c.5291G>T (n.5291G>T) c.3735C>A (p.Ala1245=) c.1162C>A c.992C>A n.215C>A c.3798C>A (p.Ala1266=) c.3744C>A (p.Ala1248=) c.3390C>A (p.Ala1130=) c.2079C>A (p.Ala693=) | |
| 1 | g.11787483C= | CA1153785924 | C1orf167,MTHFR | c.3177C= (p.Ala1059=) c.3663C= (p.Ala1221=) c.*3197G= (n.*3197G=) c.1813C= c.5291G= (n.5291G=) c.3735C= (p.Ala1245=) c.1162C= c.992C= n.215C= c.3798C= (p.Ala1266=) c.3744C= (p.Ala1248=) c.3390C= (p.Ala1130=) c.2079C= (p.Ala693=) | |
| 1 | g.11787483C>G | CA416118857 | C1orf167,MTHFR | c.3177C>G (p.Ala1059=) c.3663C>G (p.Ala1221=) c.*3197G>C (n.*3197G>C) c.1813C>G c.5291G>C (n.5291G>C) c.3735C>G (p.Ala1245=) c.1162C>G c.992C>G n.215C>G c.3798C>G (p.Ala1266=) c.3744C>G (p.Ala1248=) c.3390C>G (p.Ala1130=) c.2079C>G (p.Ala693=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11787483C>T | CA416118858 | C1orf167,MTHFR | c.3177C>T (p.Ala1059=) c.3663C>T (p.Ala1221=) c.*3197G>A (n.*3197G>A) c.1813C>T c.5291G>A (n.5291G>A) c.3735C>T (p.Ala1245=) c.1162C>T c.992C>T n.215C>T c.3798C>T (p.Ala1266=) c.3744C>T (p.Ala1248=) c.3390C>T (p.Ala1130=) c.2079C>T (p.Ala693=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11787484T>A | CA338469333 | C1orf167,MTHFR | c.3178T>A (p.Trp1060Arg) c.3664T>A (p.Trp1222Arg) c.*3196A>T (n.*3196A>T) c.1814T>A c.5290A>T (n.5290A>T) c.3736T>A (p.Trp1246Arg) c.1163T>A c.993T>A n.216T>A c.3799T>A (p.Trp1267Arg) c.3745T>A (p.Trp1249Arg) c.3391T>A (p.Trp1131Arg) c.2080T>A (p.Trp694Arg) | |
| 1 | g.11787484T>C | CA338469334 | C1orf167,MTHFR | c.3178T>C (p.Trp1060Arg) c.3664T>C (p.Trp1222Arg) c.*3196A>G (n.*3196A>G) c.1814T>C c.5290A>G (n.5290A>G) c.3736T>C (p.Trp1246Arg) c.1163T>C c.993T>C n.216T>C c.3799T>C (p.Trp1267Arg) c.3745T>C (p.Trp1249Arg) c.3391T>C (p.Trp1131Arg) c.2080T>C (p.Trp694Arg) | dbSNP |
| 1 | g.11787484T>G | CA338469336 | C1orf167,MTHFR | c.3178T>G (p.Trp1060Gly) c.3664T>G (p.Trp1222Gly) c.*3196A>C (n.*3196A>C) c.1814T>G c.5290A>C (n.5290A>C) c.3736T>G (p.Trp1246Gly) c.1163T>G c.993T>G n.216T>G c.3799T>G (p.Trp1267Gly) c.3745T>G (p.Trp1249Gly) c.3391T>G (p.Trp1131Gly) c.2080T>G (p.Trp694Gly) | |
| 1 | g.11787484T= | CA1153785927 | C1orf167,MTHFR | c.3178T= (p.Trp1060=) c.3664T= (p.Trp1222=) c.*3196A= (n.*3196A=) c.1814T= c.5290A= (n.5290A=) c.3736T= (p.Trp1246=) c.1163T= c.993T= n.216T= c.3799T= (p.Trp1267=) c.3745T= (p.Trp1249=) c.3391T= (p.Trp1131=) c.2080T= (p.Trp694=) | |
| 1 | g.11787485G>A | CA595046 | C1orf167,MTHFR | c.3179G>A (p.Trp1060Ter) c.3665G>A (p.Trp1222Ter) c.*3195C>T (n.*3195C>T) c.1815G>A c.5289C>T (n.5289C>T) c.3737G>A (p.Trp1246Ter) c.1164G>A c.994G>A n.217G>A c.3800G>A (p.Trp1267Ter) c.3746G>A (p.Trp1249Ter) c.3392G>A (p.Trp1131Ter) c.2081G>A (p.Trp694Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11787485G>C | CA338469342 | C1orf167,MTHFR | c.3179G>C (p.Trp1060Ser) c.3665G>C (p.Trp1222Ser) c.*3195C>G (n.*3195C>G) c.1815G>C c.5289C>G (n.5289C>G) c.3737G>C (p.Trp1246Ser) c.1164G>C c.994G>C n.217G>C c.3800G>C (p.Trp1267Ser) c.3746G>C (p.Trp1249Ser) c.3392G>C (p.Trp1131Ser) c.2081G>C (p.Trp694Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11787485G= | CA1153785932 | C1orf167,MTHFR | c.3179G= (p.Trp1060=) c.3665G= (p.Trp1222=) c.*3195C= (n.*3195C=) c.1815G= c.5289C= (n.5289C=) c.3737G= (p.Trp1246=) c.1164G= c.994G= n.217G= c.3800G= (p.Trp1267=) c.3746G= (p.Trp1249=) c.3392G= (p.Trp1131=) c.2081G= (p.Trp694=) | |
| 1 | g.11787485G>T | CA338469340 | C1orf167,MTHFR | c.3179G>T (p.Trp1060Leu) c.3665G>T (p.Trp1222Leu) c.*3195C>A (n.*3195C>A) c.1815G>T c.5289C>A (n.5289C>A) c.3737G>T (p.Trp1246Leu) c.1164G>T c.994G>T n.217G>T c.3800G>T (p.Trp1267Leu) c.3746G>T (p.Trp1249Leu) c.3392G>T (p.Trp1131Leu) c.2081G>T (p.Trp694Leu) | |
| 1 | g.11787486G>A | CA17995582 | C1orf167,MTHFR | c.3180G>A (p.Trp1060Ter) c.3666G>A (p.Trp1222Ter) c.*3194C>T (n.*3194C>T) c.1816G>A c.5288C>T (n.5288C>T) c.3738G>A (p.Trp1246Ter) c.1165G>A c.995G>A n.218G>A c.3801G>A (p.Trp1267Ter) c.3747G>A (p.Trp1249Ter) c.3393G>A (p.Trp1131Ter) c.2082G>A (p.Trp694Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11787486G>C | CA338469345 | C1orf167,MTHFR | c.3180G>C (p.Trp1060Cys) c.3666G>C (p.Trp1222Cys) c.*3194C>G (n.*3194C>G) c.1816G>C c.5288C>G (n.5288C>G) c.3738G>C (p.Trp1246Cys) c.1165G>C c.995G>C n.218G>C c.3801G>C (p.Trp1267Cys) c.3747G>C (p.Trp1249Cys) c.3393G>C (p.Trp1131Cys) c.2082G>C (p.Trp694Cys) | |
| 1 | g.11787486G= | CA1153785934 | C1orf167,MTHFR | c.3180G= (p.Trp1060=) c.3666G= (p.Trp1222=) c.*3194C= (n.*3194C=) c.1816G= c.5288C= (n.5288C=) c.3738G= (p.Trp1246=) c.1165G= c.995G= n.218G= c.3801G= (p.Trp1267=) c.3747G= (p.Trp1249=) c.3393G= (p.Trp1131=) c.2082G= (p.Trp694=) | |
| 1 | g.11787486G>T | CA338469347 | C1orf167,MTHFR | c.3180G>T (p.Trp1060Cys) c.3666G>T (p.Trp1222Cys) c.*3194C>A (n.*3194C>A) c.1816G>T c.5288C>A (n.5288C>A) c.3738G>T (p.Trp1246Cys) c.1165G>T c.995G>T n.218G>T c.3801G>T (p.Trp1267Cys) c.3747G>T (p.Trp1249Cys) c.3393G>T (p.Trp1131Cys) c.2082G>T (p.Trp694Cys) | |
| 1 | g.11787487G>A | CA338469349 | C1orf167,MTHFR | c.3181G>A (p.Ala1061Thr) c.3667G>A (p.Ala1223Thr) c.*3193C>T (n.*3193C>T) c.1817G>A c.5287C>T (n.5287C>T) c.3739G>A (p.Ala1247Thr) c.1166G>A c.996G>A n.219G>A c.3802G>A (p.Ala1268Thr) c.3748G>A (p.Ala1250Thr) c.3394G>A (p.Ala1132Thr) c.2083G>A (p.Ala695Thr) | dbSNP gnomAD v2 |
| 1 | g.11787487G>C | CA338469352 | C1orf167,MTHFR | c.3181G>C (p.Ala1061Pro) c.3667G>C (p.Ala1223Pro) c.*3193C>G (n.*3193C>G) c.1817G>C c.5287C>G (n.5287C>G) c.3739G>C (p.Ala1247Pro) c.1166G>C c.996G>C n.219G>C c.3802G>C (p.Ala1268Pro) c.3748G>C (p.Ala1250Pro) c.3394G>C (p.Ala1132Pro) c.2083G>C (p.Ala695Pro) | |
| 1 | g.11787487G= | CA1153785935 | C1orf167,MTHFR | c.3181G= (p.Ala1061=) c.3667G= (p.Ala1223=) c.*3193C= (n.*3193C=) c.1817G= c.5287C= (n.5287C=) c.3739G= (p.Ala1247=) c.1166G= c.996G= n.219G= c.3802G= (p.Ala1268=) c.3748G= (p.Ala1250=) c.3394G= (p.Ala1132=) c.2083G= (p.Ala695=) | |
| 1 | g.11787487G>T | CA338469354 | C1orf167,MTHFR | c.3181G>T (p.Ala1061Ser) c.3667G>T (p.Ala1223Ser) c.*3193C>A (n.*3193C>A) c.1817G>T c.5287C>A (n.5287C>A) c.3739G>T (p.Ala1247Ser) c.1166G>T c.996G>T n.219G>T c.3802G>T (p.Ala1268Ser) c.3748G>T (p.Ala1250Ser) c.3394G>T (p.Ala1132Ser) c.2083G>T (p.Ala695Ser) | gnomAD v4 |
| 1 | g.11787488C>A | CA338469357 | C1orf167,MTHFR | c.3182C>A (p.Ala1061Asp) c.3668C>A (p.Ala1223Asp) c.*3192G>T (n.*3192G>T) c.1818C>A c.5286G>T (n.5286G>T) c.3740C>A (p.Ala1247Asp) c.1167C>A c.997C>A n.220C>A c.3803C>A (p.Ala1268Asp) c.3749C>A (p.Ala1250Asp) c.3395C>A (p.Ala1132Asp) c.2084C>A (p.Ala695Asp) | gnomAD v4 |
| 1 | g.11787488C>G | CA338469358 | C1orf167,MTHFR | c.3182C>G (p.Ala1061Gly) c.3668C>G (p.Ala1223Gly) c.*3192G>C (n.*3192G>C) c.1818C>G c.5286G>C (n.5286G>C) c.3740C>G (p.Ala1247Gly) c.1167C>G c.997C>G n.220C>G c.3803C>G (p.Ala1268Gly) c.3749C>G (p.Ala1250Gly) c.3395C>G (p.Ala1132Gly) c.2084C>G (p.Ala695Gly) | |
| 1 | g.11787488C>T | CA338469360 | C1orf167,MTHFR | c.3182C>T (p.Ala1061Val) c.3668C>T (p.Ala1223Val) c.*3192G>A (n.*3192G>A) c.1818C>T c.5286G>A (n.5286G>A) c.3740C>T (p.Ala1247Val) c.1167C>T c.997C>T n.220C>T c.3803C>T (p.Ala1268Val) c.3749C>T (p.Ala1250Val) c.3395C>T (p.Ala1132Val) c.2084C>T (p.Ala695Val) | |
| 1 | g.11787489_11787490del | CA2643294455 | C1orf167,MTHFR | c.3183_3184del (p.Gln1062GlufsTer22) c.3669_3670del (p.Gln1224GlufsTer22) c.*3191_*3192del (n.*3191_*3192del) c.1819_1820del c.5285_5286del (n.5285_5286del) c.3741_3742del (p.Gln1248GlufsTer22) c.1168_1169del c.998_999del n.221_222del c.3804_3805del (p.Gln1269GlufsTer22) c.3750_3751del (p.Gln1251GlufsTer22) c.3396_3397del (p.Gln1133GlufsTer22) c.2085_2086del (p.Gln696GlufsTer22) | gnomAD v4 |
| 1 | g.11787489T>A | CA416118859 | C1orf167,MTHFR | c.3183T>A (p.Ala1061=) c.3669T>A (p.Ala1223=) c.*3191A>T (n.*3191A>T) c.1819T>A c.5285A>T (n.5285A>T) c.3741T>A (p.Ala1247=) c.1168T>A c.998T>A n.221T>A c.3804T>A (p.Ala1268=) c.3750T>A (p.Ala1250=) c.3396T>A (p.Ala1132=) c.2085T>A (p.Ala695=) | |
| 1 | g.11787489T>C | CA416118860 | C1orf167,MTHFR | c.3183T>C (p.Ala1061=) c.3669T>C (p.Ala1223=) c.*3191A>G (n.*3191A>G) c.1819T>C c.5285A>G (n.5285A>G) c.3741T>C (p.Ala1247=) c.1168T>C c.998T>C n.221T>C c.3804T>C (p.Ala1268=) c.3750T>C (p.Ala1250=) c.3396T>C (p.Ala1132=) c.2085T>C (p.Ala695=) | |
| 1 | g.11787489T>G | CA416118861 | C1orf167,MTHFR | c.3183T>G (p.Ala1061=) c.3669T>G (p.Ala1223=) c.*3191A>C (n.*3191A>C) c.1819T>G c.5285A>C (n.5285A>C) c.3741T>G (p.Ala1247=) c.1168T>G c.998T>G n.221T>G c.3804T>G (p.Ala1268=) c.3750T>G (p.Ala1250=) c.3396T>G (p.Ala1132=) c.2085T>G (p.Ala695=) | dbSNP |
| 1 | g.11787489T= | CA1153785936 | C1orf167,MTHFR | c.3183T= (p.Ala1061=) c.3669T= (p.Ala1223=) c.*3191A= (n.*3191A=) c.1819T= c.5285A= (n.5285A=) c.3741T= (p.Ala1247=) c.1168T= c.998T= n.221T= c.3804T= (p.Ala1268=) c.3750T= (p.Ala1250=) c.3396T= (p.Ala1132=) c.2085T= (p.Ala695=) | |
| 1 | g.11787490C>A | CA338469362 | C1orf167,MTHFR | c.3184C>A (p.Gln1062Lys) c.3670C>A (p.Gln1224Lys) c.*3190G>T (n.*3190G>T) c.1820C>A c.5284G>T (n.5284G>T) c.3742C>A (p.Gln1248Lys) c.1169C>A c.999C>A n.222C>A c.3805C>A (p.Gln1269Lys) c.3751C>A (p.Gln1251Lys) c.3397C>A (p.Gln1133Lys) c.2086C>A (p.Gln696Lys) | |
| 1 | g.11787490C>G | CA338469364 | C1orf167,MTHFR | c.3184C>G (p.Gln1062Glu) c.3670C>G (p.Gln1224Glu) c.*3190G>C (n.*3190G>C) c.1820C>G c.5284G>C (n.5284G>C) c.3742C>G (p.Gln1248Glu) c.1169C>G c.999C>G n.222C>G c.3805C>G (p.Gln1269Glu) c.3751C>G (p.Gln1251Glu) c.3397C>G (p.Gln1133Glu) c.2086C>G (p.Gln696Glu) | |
| 1 | g.11787490C>T | CA338469366 | C1orf167,MTHFR | c.3184C>T (p.Gln1062Ter) c.3670C>T (p.Gln1224Ter) c.*3190G>A (n.*3190G>A) c.1820C>T c.5284G>A (n.5284G>A) c.3742C>T (p.Gln1248Ter) c.1169C>T c.999C>T n.222C>T c.3805C>T (p.Gln1269Ter) c.3751C>T (p.Gln1251Ter) c.3397C>T (p.Gln1133Ter) c.2086C>T (p.Gln696Ter) | |
| 1 | g.11787491A= | CA1153785937 | C1orf167,MTHFR | c.3185A= (p.Gln1062=) c.3671A= (p.Gln1224=) c.*3189T= (n.*3189T=) c.1821A= c.5283T= (n.5283T=) c.3743A= (p.Gln1248=) c.1170A= c.1000A= n.223A= c.3806A= (p.Gln1269=) c.3752A= (p.Gln1251=) c.3398A= (p.Gln1133=) c.2087A= (p.Gln696=) | |
| 1 | g.11787491A>C | CA10607824 | C1orf167,MTHFR | c.3185A>C (p.Gln1062Pro) c.3671A>C (p.Gln1224Pro) c.*3189T>G (n.*3189T>G) c.1821A>C c.5283T>G (n.5283T>G) c.3743A>C (p.Gln1248Pro) c.1170A>C c.1000A>C n.223A>C c.3806A>C (p.Gln1269Pro) c.3752A>C (p.Gln1251Pro) c.3398A>C (p.Gln1133Pro) c.2087A>C (p.Gln696Pro) | dbSNP gnomAD v4 |
| 1 | g.11787491A>G | CA338469371 | C1orf167,MTHFR | c.3185A>G (p.Gln1062Arg) c.3671A>G (p.Gln1224Arg) c.*3189T>C (n.*3189T>C) c.1821A>G c.5283T>C (n.5283T>C) c.3743A>G (p.Gln1248Arg) c.1170A>G c.1000A>G n.223A>G c.3806A>G (p.Gln1269Arg) c.3752A>G (p.Gln1251Arg) c.3398A>G (p.Gln1133Arg) c.2087A>G (p.Gln696Arg) | |
| 1 | g.11787491A>T | CA338469369 | C1orf167,MTHFR | c.3185A>T (p.Gln1062Leu) c.3671A>T (p.Gln1224Leu) c.*3189T>A (n.*3189T>A) c.1821A>T c.5283T>A (n.5283T>A) c.3743A>T (p.Gln1248Leu) c.1170A>T c.1000A>T n.223A>T c.3806A>T (p.Gln1269Leu) c.3752A>T (p.Gln1251Leu) c.3398A>T (p.Gln1133Leu) c.2087A>T (p.Gln696Leu) | |
| 1 | g.11787493_11787494del | CA2643294456 | C1orf167,MTHFR | c.3187_3187+1del c.3673_3673+1del c.*3188_*3189del (n.*3188_*3189del) c.1823_1823+1del c.5282_5283del (n.5282_5283del) c.3745_3745+1del c.1172_1172+1del c.1002_1002+1del n.225_226del c.3808_3808+1del c.3754_3754+1del c.3400_3400+1del c.2089_2089+1del | gnomAD v4 |
| 1 | g.11787491_11787495delinsAGAGT | CA1153785938 | C1orf167,MTHFR | c.3185_3187+2delinsAGAGT c.3671_3673+2delinsAGAGT c.*3185_*3189delinsACTCT (n.*3185_*3189delinsACTCT) c.1821_1823+2delinsAGAGT c.5279_5283delinsACTCT (n.5279_5283delinsACTCT) c.3743_3745+2delinsAGAGT c.1170_1172+2delinsAGAGT c.1000_1002+2delinsAGAGT n.223_227delinsAGAGT c.3806_3808+2delinsAGAGT c.3752_3754+2delinsAGAGT c.3398_3400+2delinsAGAGT c.2087_2089+2delinsAGAGT | |
| 1 | g.11787492G>A | CA416118862 | C1orf167,MTHFR | c.3186G>A (p.Gln1062=) c.3672G>A (p.Gln1224=) c.*3188C>T (n.*3188C>T) c.1822G>A c.5282C>T (n.5282C>T) c.3744G>A (p.Gln1248=) c.1171G>A c.1001G>A n.224G>A c.3807G>A (p.Gln1269=) c.3753G>A (p.Gln1251=) c.3399G>A (p.Gln1133=) c.2088G>A (p.Gln696=) | dbSNP |
| 1 | g.11787492G>C | CA338469375 | C1orf167,MTHFR | c.3186G>C (p.Gln1062His) c.3672G>C (p.Gln1224His) c.*3188C>G (n.*3188C>G) c.1822G>C c.5282C>G (n.5282C>G) c.3744G>C (p.Gln1248His) c.1171G>C c.1001G>C n.224G>C c.3807G>C (p.Gln1269His) c.3753G>C (p.Gln1251His) c.3399G>C (p.Gln1133His) c.2088G>C (p.Gln696His) | |
| 1 | g.11787492G= | CA1153785940 | C1orf167,MTHFR | c.3186G= (p.Gln1062=) c.3672G= (p.Gln1224=) c.*3188C= (n.*3188C=) c.1822G= c.5282C= (n.5282C=) c.3744G= (p.Gln1248=) c.1171G= c.1001G= n.224G= c.3807G= (p.Gln1269=) c.3753G= (p.Gln1251=) c.3399G= (p.Gln1133=) c.2088G= (p.Gln696=) | |
| 1 | g.11787492G>T | CA338469376 | C1orf167,MTHFR | c.3186G>T (p.Gln1062His) c.3672G>T (p.Gln1224His) c.*3188C>A (n.*3188C>A) c.1822G>T c.5282C>A (n.5282C>A) c.3744G>T (p.Gln1248His) c.1171G>T c.1001G>T n.224G>T c.3807G>T (p.Gln1269His) c.3753G>T (p.Gln1251His) c.3399G>T (p.Gln1133His) c.2088G>T (p.Gln696His) | |
| 1 | g.11787492_11787495del | CA1153785939 | C1orf167,MTHFR | c.3186_3187+2del c.3672_3673+2del c.*3185_*3188del (n.*3185_*3188del) c.1822_1823+2del c.5279_5282del (n.5279_5282del) c.3744_3745+2del c.1171_1172+2del c.1001_1002+2del n.224_227del c.3807_3808+2del c.3753_3754+2del c.3399_3400+2del c.2088_2089+2del | dbSNP |