| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11791201_11791211del | CA2580060871 | MTHFR | c.1872_1875+7del c.1749_1752+7del c.1869_1872+7del c.*208_*211+7del c.*1261_*1264+7del n.2118_2121+7del n.2266_2269+7del c.1014_1017+7del c.1503_1506+7del n.2850_2853+7del | ClinVar |
| 1 | g.11791206C>A | CA198650 | MTHFR | c.1875+1G>T (n.1875+1G>T) c.1752+1G>T (n.1752+1G>T) c.1872+1G>T (n.1872+1G>T) c.*211+1G>T (n.*211+1G>T) c.*1264+1G>T (n.*1264+1G>T) n.2121+1G>T n.2269+1G>T c.1017+1G>T (n.1017+1G>T) c.1506+1G>T (n.1506+1G>T) n.2853+1G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11791206C= | CA1148566482 | MTHFR | c.1875+1G= (n.1875+1G=) c.1752+1G= (n.1752+1G=) c.1872+1G= (n.1872+1G=) c.*211+1G= (n.*211+1G=) c.*1264+1G= (n.*1264+1G=) n.2121+1G= n.2269+1G= c.1017+1G= (n.1017+1G=) c.1506+1G= (n.1506+1G=) n.2853+1G= | |
| 1 | g.11791206C>G | CA338474236 | MTHFR | c.1875+1G>C (n.1875+1G>C) c.1752+1G>C (n.1752+1G>C) c.1872+1G>C (n.1872+1G>C) c.*211+1G>C (n.*211+1G>C) c.*1264+1G>C (n.*1264+1G>C) n.2121+1G>C n.2269+1G>C c.1017+1G>C (n.1017+1G>C) c.1506+1G>C (n.1506+1G>C) n.2853+1G>C | |
| 1 | g.11791206C>T | CA338474238 | MTHFR | c.1875+1G>A (n.1875+1G>A) c.1752+1G>A (n.1752+1G>A) c.1872+1G>A (n.1872+1G>A) c.*211+1G>A (n.*211+1G>A) c.*1264+1G>A (n.*1264+1G>A) n.2121+1G>A n.2269+1G>A c.1017+1G>A (n.1017+1G>A) c.1506+1G>A (n.1506+1G>A) n.2853+1G>A | |
| 1 | g.11791208_11791211del | CA2695197958 | MTHFR | c.1873_1875+1del c.1750_1752+1del c.1870_1872+1del c.*209_*211+1del c.*1262_*1264+1del n.2119_2121+1del n.2267_2269+1del c.1015_1017+1del c.1504_1506+1del n.2851_2853+1del | ClinVar |
| 1 | g.11791207C>A | CA338474240 | MTHFR | c.1875G>T (p.Lys625Asn) c.1752G>T (p.Lys584Asn) c.1872G>T (p.Lys624Asn) c.*211G>T (n.*211G>T) c.*1264G>T (n.*1264G>T) n.2121G>T n.2269G>T c.1017G>T (p.Lys339Asn) c.1506G>T (p.Lys502Asn) n.2853G>T | |
| 1 | g.11791207C>G | CA338474242 | MTHFR | c.1875G>C (p.Lys625Asn) c.1752G>C (p.Lys584Asn) c.1872G>C (p.Lys624Asn) c.*211G>C (n.*211G>C) c.*1264G>C (n.*1264G>C) n.2121G>C n.2269G>C c.1017G>C (p.Lys339Asn) c.1506G>C (p.Lys502Asn) n.2853G>C | |
| 1 | g.11791207C>T | CA416119780 | MTHFR | c.1875G>A (p.Lys625=) c.1752G>A (p.Lys584=) c.1872G>A (p.Lys624=) c.*211G>A (n.*211G>A) c.*1264G>A (n.*1264G>A) n.2121G>A n.2269G>A c.1017G>A (p.Lys339=) c.1506G>A (p.Lys502=) n.2853G>A | |
| 1 | g.11791208T>A | CA338474244 | MTHFR | c.1874A>T (p.Lys625Met) c.1751A>T (p.Lys584Met) c.1871A>T (p.Lys624Met) c.*210A>T (n.*210A>T) c.*1263A>T (n.*1263A>T) n.2120A>T n.2268A>T c.1016A>T (p.Lys339Met) c.1505A>T (p.Lys502Met) n.2852A>T | |
| 1 | g.11791208T>C | CA338474246 | MTHFR | c.1874A>G (p.Lys625Arg) c.1751A>G (p.Lys584Arg) c.1871A>G (p.Lys624Arg) c.*210A>G (n.*210A>G) c.*1263A>G (n.*1263A>G) n.2120A>G n.2268A>G c.1016A>G (p.Lys339Arg) c.1505A>G (p.Lys502Arg) n.2852A>G | |
| 1 | g.11791208T>G | CA338474247 | MTHFR | c.1874A>C (p.Lys625Thr) c.1751A>C (p.Lys584Thr) c.1871A>C (p.Lys624Thr) c.*210A>C (n.*210A>C) c.*1263A>C (n.*1263A>C) n.2120A>C n.2268A>C c.1016A>C (p.Lys339Thr) c.1505A>C (p.Lys502Thr) n.2852A>C | |
| 1 | g.11791209T>A | CA338474248 | MTHFR | c.1873A>T (p.Lys625Ter) c.1750A>T (p.Lys584Ter) c.1870A>T (p.Lys624Ter) c.*209A>T (n.*209A>T) c.*1262A>T (n.*1262A>T) n.2119A>T n.2267A>T c.1015A>T (p.Lys339Ter) c.1504A>T (p.Lys502Ter) n.2851A>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.11791209T>C | CA338474250 | MTHFR | c.1873A>G (p.Lys625Glu) c.1750A>G (p.Lys584Glu) c.1870A>G (p.Lys624Glu) c.*209A>G (n.*209A>G) c.*1262A>G (n.*1262A>G) n.2119A>G n.2267A>G c.1015A>G (p.Lys339Glu) c.1504A>G (p.Lys502Glu) n.2851A>G | |
| 1 | g.11791209T>G | CA338474251 | MTHFR | c.1873A>C (p.Lys625Gln) c.1750A>C (p.Lys584Gln) c.1870A>C (p.Lys624Gln) c.*209A>C (n.*209A>C) c.*1262A>C (n.*1262A>C) n.2119A>C n.2267A>C c.1015A>C (p.Lys339Gln) c.1504A>C (p.Lys502Gln) n.2851A>C | |
| 1 | g.11791209T= | CA1153792406 | MTHFR | c.1873A= (p.Lys625=) c.1750A= (p.Lys584=) c.1870A= (p.Lys624=) c.*209A= (n.*209A=) c.*1262A= (n.*1262A=) n.2119A= n.2267A= c.1015A= (p.Lys339=) c.1504A= (p.Lys502=) n.2851A= | |
| 1 | g.11791210C>A | CA338474253 | MTHFR | c.1872G>T (p.Trp624Cys) c.1749G>T (p.Trp583Cys) c.1869G>T (p.Trp623Cys) c.*208G>T (n.*208G>T) c.*1261G>T (n.*1261G>T) n.2118G>T n.2266G>T c.1014G>T (p.Trp338Cys) c.1503G>T (p.Trp501Cys) n.2850G>T | |
| 1 | g.11791210C>G | CA338474256 | MTHFR | c.1872G>C (p.Trp624Cys) c.1749G>C (p.Trp583Cys) c.1869G>C (p.Trp623Cys) c.*208G>C (n.*208G>C) c.*1261G>C (n.*1261G>C) n.2118G>C n.2266G>C c.1014G>C (p.Trp338Cys) c.1503G>C (p.Trp501Cys) n.2850G>C | |
| 1 | g.11791210C>T | CA338474254 | MTHFR | c.1872G>A (p.Trp624Ter) c.1749G>A (p.Trp583Ter) c.1869G>A (p.Trp623Ter) c.*208G>A (n.*208G>A) c.*1261G>A (n.*1261G>A) n.2118G>A n.2266G>A c.1014G>A (p.Trp338Ter) c.1503G>A (p.Trp501Ter) n.2850G>A | |
| 1 | g.11791211C>A | CA338474258 | MTHFR | c.1871G>T (p.Trp624Leu) c.1748G>T (p.Trp583Leu) c.1868G>T (p.Trp623Leu) c.*207G>T (n.*207G>T) c.*1260G>T (n.*1260G>T) n.2117G>T n.2265G>T c.1013G>T (p.Trp338Leu) c.1502G>T (p.Trp501Leu) n.2849G>T | |
| 1 | g.11791211C= | CA1153792416 | MTHFR | c.1871G= (p.Trp624=) c.1748G= (p.Trp583=) c.1868G= (p.Trp623=) c.*207G= (n.*207G=) c.*1260G= (n.*1260G=) n.2117G= n.2265G= c.1013G= (p.Trp338=) c.1502G= (p.Trp501=) n.2849G= | |
| 1 | g.11791211C>G | CA338474260 | MTHFR | c.1871G>C (p.Trp624Ser) c.1748G>C (p.Trp583Ser) c.1868G>C (p.Trp623Ser) c.*207G>C (n.*207G>C) c.*1260G>C (n.*1260G>C) n.2117G>C n.2265G>C c.1013G>C (p.Trp338Ser) c.1502G>C (p.Trp501Ser) n.2849G>C | |
| 1 | g.11791211C>T | CA338474262 | MTHFR | c.1871G>A (p.Trp624Ter) c.1748G>A (p.Trp583Ter) c.1868G>A (p.Trp623Ter) c.*207G>A (n.*207G>A) c.*1260G>A (n.*1260G>A) n.2117G>A n.2265G>A c.1013G>A (p.Trp338Ter) c.1502G>A (p.Trp501Ter) n.2849G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11791212A>C | CA338474264 | MTHFR | c.1870T>G (p.Trp624Gly) c.1747T>G (p.Trp583Gly) c.1867T>G (p.Trp623Gly) c.*206T>G (n.*206T>G) c.*1259T>G (n.*1259T>G) n.2116T>G n.2264T>G c.1012T>G (p.Trp338Gly) c.1501T>G (p.Trp501Gly) n.2848T>G | |
| 1 | g.11791212A>G | CA338474265 | MTHFR | c.1870T>C (p.Trp624Arg) c.1747T>C (p.Trp583Arg) c.1867T>C (p.Trp623Arg) c.*206T>C (n.*206T>C) c.*1259T>C (n.*1259T>C) n.2116T>C n.2264T>C c.1012T>C (p.Trp338Arg) c.1501T>C (p.Trp501Arg) n.2848T>C | |
| 1 | g.11791212A>T | CA338474267 | MTHFR | c.1870T>A (p.Trp624Arg) c.1747T>A (p.Trp583Arg) c.1867T>A (p.Trp623Arg) c.*206T>A (n.*206T>A) c.*1259T>A (n.*1259T>A) n.2116T>A n.2264T>A c.1012T>A (p.Trp338Arg) c.1501T>A (p.Trp501Arg) n.2848T>A | |
| 1 | g.11791213G>A | CA416119787 | MTHFR | c.1869C>T (p.Phe623=) c.1746C>T (p.Phe582=) c.1866C>T (p.Phe622=) c.*205C>T (n.*205C>T) c.*1258C>T (n.*1258C>T) n.2115C>T n.2263C>T c.1011C>T (p.Phe337=) c.1500C>T (p.Phe500=) n.2847C>T | |
| 1 | g.11791213G>C | CA338474269 | MTHFR | c.1869C>G (p.Phe623Leu) c.1746C>G (p.Phe582Leu) c.1866C>G (p.Phe622Leu) c.*205C>G (n.*205C>G) c.*1258C>G (n.*1258C>G) n.2115C>G n.2263C>G c.1011C>G (p.Phe337Leu) c.1500C>G (p.Phe500Leu) n.2847C>G | |
| 1 | g.11791213G>T | CA338474271 | MTHFR | c.1869C>A (p.Phe623Leu) c.1746C>A (p.Phe582Leu) c.1866C>A (p.Phe622Leu) c.*205C>A (n.*205C>A) c.*1258C>A (n.*1258C>A) n.2115C>A n.2263C>A c.1011C>A (p.Phe337Leu) c.1500C>A (p.Phe500Leu) n.2847C>A | |
| 1 | g.11791214A>C | CA338474273 | MTHFR | c.1868T>G (p.Phe623Cys) c.1745T>G (p.Phe582Cys) c.1865T>G (p.Phe622Cys) c.*204T>G (n.*204T>G) c.*1257T>G (n.*1257T>G) n.2114T>G n.2262T>G c.1010T>G (p.Phe337Cys) c.1499T>G (p.Phe500Cys) n.2846T>G | |
| 1 | g.11791214A>G | CA338474274 | MTHFR | c.1868T>C (p.Phe623Ser) c.1745T>C (p.Phe582Ser) c.1865T>C (p.Phe622Ser) c.*204T>C (n.*204T>C) c.*1257T>C (n.*1257T>C) n.2114T>C n.2262T>C c.1010T>C (p.Phe337Ser) c.1499T>C (p.Phe500Ser) n.2846T>C | |
| 1 | g.11791214A>T | CA338474276 | MTHFR | c.1868T>A (p.Phe623Tyr) c.1745T>A (p.Phe582Tyr) c.1865T>A (p.Phe622Tyr) c.*204T>A (n.*204T>A) c.*1257T>A (n.*1257T>A) n.2114T>A n.2262T>A c.1010T>A (p.Phe337Tyr) c.1499T>A (p.Phe500Tyr) n.2846T>A | |
| 1 | g.11791215A>C | CA338474281 | MTHFR | c.1867T>G (p.Phe623Val) c.1744T>G (p.Phe582Val) c.1864T>G (p.Phe622Val) c.*203T>G (n.*203T>G) c.*1256T>G (n.*1256T>G) n.2113T>G n.2261T>G c.1009T>G (p.Phe337Val) c.1498T>G (p.Phe500Val) n.2845T>G | |
| 1 | g.11791215A>G | CA338474279 | MTHFR | c.1867T>C (p.Phe623Leu) c.1744T>C (p.Phe582Leu) c.1864T>C (p.Phe622Leu) c.*203T>C (n.*203T>C) c.*1256T>C (n.*1256T>C) n.2113T>C n.2261T>C c.1009T>C (p.Phe337Leu) c.1498T>C (p.Phe500Leu) n.2845T>C | |
| 1 | g.11791215A>T | CA338474277 | MTHFR | c.1867T>A (p.Phe623Ile) c.1744T>A (p.Phe582Ile) c.1864T>A (p.Phe622Ile) c.*203T>A (n.*203T>A) c.*1256T>A (n.*1256T>A) n.2113T>A n.2261T>A c.1009T>A (p.Phe337Ile) c.1498T>A (p.Phe500Ile) n.2845T>A | |
| 1 | g.11791216C>A | CA338474282 | MTHFR | c.1866G>T (p.Met622Ile) c.1743G>T (p.Met581Ile) c.1863G>T (p.Met621Ile) c.*202G>T (n.*202G>T) c.*1255G>T (n.*1255G>T) n.2112G>T n.2260G>T c.1008G>T (p.Met336Ile) c.1497G>T (p.Met499Ile) n.2844G>T | |
| 1 | g.11791216C= | CA1140616140 | MTHFR | c.1866G= (p.Met622=) c.1743G= (p.Met581=) c.1863G= (p.Met621=) c.*202G= (n.*202G=) c.*1255G= (n.*1255G=) n.2112G= n.2260G= c.1008G= (p.Met336=) c.1497G= (p.Met499=) n.2844G= | |
| 1 | g.11791216C>G | CA338474284 | MTHFR | c.1866G>C (p.Met622Ile) c.1743G>C (p.Met581Ile) c.1863G>C (p.Met621Ile) c.*202G>C (n.*202G>C) c.*1255G>C (n.*1255G>C) n.2112G>C n.2260G>C c.1008G>C (p.Met336Ile) c.1497G>C (p.Met499Ile) n.2844G>C | |
| 1 | g.11791216C>T | CA116323 | MTHFR | c.1866G>A (p.Met622Ile) c.1743G>A (p.Met581Ile) c.1863G>A (p.Met621Ile) c.*202G>A (n.*202G>A) c.*1255G>A (n.*1255G>A) n.2112G>A n.2260G>A c.1008G>A (p.Met336Ile) c.1497G>A (p.Met499Ile) n.2844G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11791217A= | CA1153792436 | MTHFR | c.1865T= (p.Met622=) c.1742T= (p.Met581=) c.1862T= (p.Met621=) c.*201T= (n.*201T=) c.*1254T= (n.*1254T=) n.2111T= n.2259T= c.1007T= (p.Met336=) c.1496T= (p.Met499=) n.2843T= | |
| 1 | g.11791217A>C | CA338474287 | MTHFR | c.1865T>G (p.Met622Arg) c.1742T>G (p.Met581Arg) c.1862T>G (p.Met621Arg) c.*201T>G (n.*201T>G) c.*1254T>G (n.*1254T>G) n.2111T>G n.2259T>G c.1007T>G (p.Met336Arg) c.1496T>G (p.Met499Arg) n.2843T>G | |
| 1 | g.11791217A>G | CA595238 | MTHFR | c.1865T>C (p.Met622Thr) c.1742T>C (p.Met581Thr) c.1862T>C (p.Met621Thr) c.*201T>C (n.*201T>C) c.*1254T>C (n.*1254T>C) n.2111T>C n.2259T>C c.1007T>C (p.Met336Thr) c.1496T>C (p.Met499Thr) n.2843T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11791217A>T | CA338474291 | MTHFR | c.1865T>A (p.Met622Lys) c.1742T>A (p.Met581Lys) c.1862T>A (p.Met621Lys) c.*201T>A (n.*201T>A) c.*1254T>A (n.*1254T>A) n.2111T>A n.2259T>A c.1007T>A (p.Met336Lys) c.1496T>A (p.Met499Lys) n.2843T>A | |
| 1 | g.11791218T>A | CA338474292 | MTHFR | c.1864A>T (p.Met622Leu) c.1741A>T (p.Met581Leu) c.1861A>T (p.Met621Leu) c.*200A>T (n.*200A>T) c.*1253A>T (n.*1253A>T) n.2110A>T n.2258A>T c.1006A>T (p.Met336Leu) c.1495A>T (p.Met499Leu) n.2842A>T | |
| 1 | g.11791218T>C | CA595239 | MTHFR | c.1864A>G (p.Met622Val) c.1741A>G (p.Met581Val) c.1861A>G (p.Met621Val) c.*200A>G (n.*200A>G) c.*1253A>G (n.*1253A>G) n.2110A>G n.2258A>G c.1006A>G (p.Met336Val) c.1495A>G (p.Met499Val) n.2842A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11791218T>G | CA338474294 | MTHFR | c.1864A>C (p.Met622Leu) c.1741A>C (p.Met581Leu) c.1861A>C (p.Met621Leu) c.*200A>C (n.*200A>C) c.*1253A>C (n.*1253A>C) n.2110A>C n.2258A>C c.1006A>C (p.Met336Leu) c.1495A>C (p.Met499Leu) n.2842A>C | |
| 1 | g.11791218T= | CA1148302651 | MTHFR | c.1864A= (p.Met622=) c.1741A= (p.Met581=) c.1861A= (p.Met621=) c.*200A= (n.*200A=) c.*1253A= (n.*1253A=) n.2110A= n.2258A= c.1006A= (p.Met336=) c.1495A= (p.Met499=) n.2842A= | |
| 1 | g.11791219G>A | CA416119804 | MTHFR | c.1863C>T (p.Phe621=) c.1740C>T (p.Phe580=) c.1860C>T (p.Phe620=) c.*199C>T (n.*199C>T) c.*1252C>T (n.*1252C>T) n.2109C>T n.2257C>T c.1005C>T (p.Phe335=) c.1494C>T (p.Phe498=) n.2841C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11791219G>C | CA338474296 | MTHFR | c.1863C>G (p.Phe621Leu) c.1740C>G (p.Phe580Leu) c.1860C>G (p.Phe620Leu) c.*199C>G (n.*199C>G) c.*1252C>G (n.*1252C>G) n.2109C>G n.2257C>G c.1005C>G (p.Phe335Leu) c.1494C>G (p.Phe498Leu) n.2841C>G | |
| 1 | g.11791219G= | CA1153792454 | MTHFR | c.1863C= (p.Phe621=) c.1740C= (p.Phe580=) c.1860C= (p.Phe620=) c.*199C= (n.*199C=) c.*1252C= (n.*1252C=) n.2109C= n.2257C= c.1005C= (p.Phe335=) c.1494C= (p.Phe498=) n.2841C= |