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.11791203T>C | CA2643302476 | MTHFR | c.1875+4A>G (n.1875+4A>G) c.1752+4A>G (n.1752+4A>G) c.1872+4A>G (n.1872+4A>G) c.*211+4A>G (n.*211+4A>G) c.*1264+4A>G (n.*1264+4A>G) n.2121+4A>G n.2269+4A>G c.1017+4A>G (n.1017+4A>G) c.1506+4A>G (n.1506+4A>G) n.2853+4A>G | gnomAD v4 |
1 | g.11791204T>C | CA2643302478 | MTHFR | c.1875+3A>G (n.1875+3A>G) c.1752+3A>G (n.1752+3A>G) c.1872+3A>G (n.1872+3A>G) c.*211+3A>G (n.*211+3A>G) c.*1264+3A>G (n.*1264+3A>G) n.2121+3A>G n.2269+3A>G c.1017+3A>G (n.1017+3A>G) c.1506+3A>G (n.1506+3A>G) n.2853+3A>G | gnomAD v4 |
1 | g.11791205A>C | CA338474230 | MTHFR | c.1875+2T>G (n.1875+2T>G) c.1752+2T>G (n.1752+2T>G) c.1872+2T>G (n.1872+2T>G) c.*211+2T>G (n.*211+2T>G) c.*1264+2T>G (n.*1264+2T>G) n.2121+2T>G n.2269+2T>G c.1017+2T>G (n.1017+2T>G) c.1506+2T>G (n.1506+2T>G) n.2853+2T>G | |
1 | g.11791205A>G | CA338474234 | MTHFR | c.1875+2T>C (n.1875+2T>C) c.1752+2T>C (n.1752+2T>C) c.1872+2T>C (n.1872+2T>C) c.*211+2T>C (n.*211+2T>C) c.*1264+2T>C (n.*1264+2T>C) n.2121+2T>C n.2269+2T>C c.1017+2T>C (n.1017+2T>C) c.1506+2T>C (n.1506+2T>C) n.2853+2T>C | |
1 | g.11791205A>T | CA338474232 | MTHFR | c.1875+2T>A (n.1875+2T>A) c.1752+2T>A (n.1752+2T>A) c.1872+2T>A (n.1872+2T>A) c.*211+2T>A (n.*211+2T>A) c.*1264+2T>A (n.*1264+2T>A) n.2121+2T>A n.2269+2T>A c.1017+2T>A (n.1017+2T>A) c.1506+2T>A (n.1506+2T>A) n.2853+2T>A | |
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= | |
1 | g.11791219G>T | CA338474298 | MTHFR | c.1863C>A (p.Phe621Leu) c.1740C>A (p.Phe580Leu) c.1860C>A (p.Phe620Leu) c.*199C>A (n.*199C>A) c.*1252C>A (n.*1252C>A) n.2109C>A n.2257C>A c.1005C>A (p.Phe335Leu) c.1494C>A (p.Phe498Leu) n.2841C>A | |
1 | g.11791219_11791220delinsGA | CA1153792456 | MTHFR | c.1862_1863delinsTC (p.Phe621=) c.1739_1740delinsTC (p.Phe580=) c.1859_1860delinsTC (p.Phe620=) c.*198_*199delinsTC (n.*198_*199delinsTC) c.*1251_*1252delinsTC (n.*1251_*1252delinsTC) n.2108_2109delinsTC n.2256_2257delinsTC c.1004_1005delinsTC (p.Phe335=) c.1493_1494delinsTC (p.Phe498=) n.2840_2841delinsTC | |
1 | g.11791220A>C | CA338474303 | MTHFR | c.1862T>G (p.Phe621Cys) c.1739T>G (p.Phe580Cys) c.1859T>G (p.Phe620Cys) c.*198T>G (n.*198T>G) c.*1251T>G (n.*1251T>G) n.2108T>G n.2256T>G c.1004T>G (p.Phe335Cys) c.1493T>G (p.Phe498Cys) n.2840T>G | |
1 | g.11791220A>G | CA338474305 | MTHFR | c.1862T>C (p.Phe621Ser) c.1739T>C (p.Phe580Ser) c.1859T>C (p.Phe620Ser) c.*198T>C (n.*198T>C) c.*1251T>C (n.*1251T>C) n.2108T>C n.2256T>C c.1004T>C (p.Phe335Ser) c.1493T>C (p.Phe498Ser) n.2840T>C | |
1 | g.11791220A>T | CA338474301 | MTHFR | c.1862T>A (p.Phe621Tyr) c.1739T>A (p.Phe580Tyr) c.1859T>A (p.Phe620Tyr) c.*198T>A (n.*198T>A) c.*1251T>A (n.*1251T>A) n.2108T>A n.2256T>A c.1004T>A (p.Phe335Tyr) c.1493T>A (p.Phe498Tyr) n.2840T>A | |
1 | g.11791220_11791221delinsAA | CA1143355037 | MTHFR | c.1861_1862delinsTT (p.Phe621=) c.1738_1739delinsTT (p.Phe580=) c.1858_1859delinsTT (p.Phe620=) c.*197_*198delinsTT (n.*197_*198delinsTT) c.*1250_*1251delinsTT (n.*1250_*1251delinsTT) n.2107_2108delinsTT n.2255_2256delinsTT c.1003_1004delinsTT (p.Phe335=) c.1492_1493delinsTT (p.Phe498=) n.2839_2840delinsTT | |
1 | g.11791221del | CA174515 | MTHFR | c.1862del (p.Phe621SerfsTer?) c.1739del (p.Phe580SerfsTer?) c.1859del (p.Phe620SerfsTer?) c.1739del (p.Phe580SerfsTer17) c.*198del (n.*198del) c.*1251del (n.*1251del) n.2108del n.2256del c.1004del (p.Phe335SerfsTer?) c.1493del (p.Phe498SerfsTer?) c.1862del (p.Phe621SerfsTer17) n.2840del | ClinVar dbSNP COSMIC |
1 | g.11791221A= | CA1153792464 | MTHFR | c.1861T= (p.Phe621=) c.1738T= (p.Phe580=) c.1858T= (p.Phe620=) c.*197T= (n.*197T=) c.*1250T= (n.*1250T=) n.2107T= n.2255T= c.1003T= (p.Phe335=) c.1492T= (p.Phe498=) n.2839T= | |
1 | g.11791221A>C | CA338474307 | MTHFR | c.1861T>G (p.Phe621Val) c.1738T>G (p.Phe580Val) c.1858T>G (p.Phe620Val) c.*197T>G (n.*197T>G) c.*1250T>G (n.*1250T>G) n.2107T>G n.2255T>G c.1003T>G (p.Phe335Val) c.1492T>G (p.Phe498Val) n.2839T>G | |
1 | g.11791221A>G | CA595240 | MTHFR | c.1861T>C (p.Phe621Leu) c.1738T>C (p.Phe580Leu) c.1858T>C (p.Phe620Leu) c.*197T>C (n.*197T>C) c.*1250T>C (n.*1250T>C) n.2107T>C n.2255T>C c.1003T>C (p.Phe335Leu) c.1492T>C (p.Phe498Leu) n.2839T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.11791221A>T | CA338474310 | MTHFR | c.1861T>A (p.Phe621Ile) c.1738T>A (p.Phe580Ile) c.1858T>A (p.Phe620Ile) c.*197T>A (n.*197T>A) c.*1250T>A (n.*1250T>A) n.2107T>A n.2255T>A c.1003T>A (p.Phe335Ile) c.1492T>A (p.Phe498Ile) n.2839T>A | |
1 | g.11791222G>A | CA416119809 | MTHFR | c.1860C>T (p.Ser620=) c.1737C>T (p.Ser579=) c.1857C>T (p.Ser619=) c.*196C>T (n.*196C>T) c.*1249C>T (n.*1249C>T) n.2106C>T n.2254C>T c.1002C>T (p.Ser334=) c.1491C>T (p.Ser497=) n.2838C>T | ClinVar |
1 | g.11791222G>C | CA338474312 | MTHFR | c.1860C>G (p.Ser620Arg) c.1737C>G (p.Ser579Arg) c.1857C>G (p.Ser619Arg) c.*196C>G (n.*196C>G) c.*1249C>G (n.*1249C>G) n.2106C>G n.2254C>G c.1002C>G (p.Ser334Arg) c.1491C>G (p.Ser497Arg) n.2838C>G | |
1 | g.11791222G>T | CA338474314 | MTHFR | c.1860C>A (p.Ser620Arg) c.1737C>A (p.Ser579Arg) c.1857C>A (p.Ser619Arg) c.*196C>A (n.*196C>A) c.*1249C>A (n.*1249C>A) n.2106C>A n.2254C>A c.1002C>A (p.Ser334Arg) c.1491C>A (p.Ser497Arg) n.2838C>A | |
1 | g.11791223C>A | CA338474316 | MTHFR | c.1859G>T (p.Ser620Ile) c.1736G>T (p.Ser579Ile) c.1856G>T (p.Ser619Ile) c.*195G>T (n.*195G>T) c.*1248G>T (n.*1248G>T) n.2105G>T n.2253G>T c.1001G>T (p.Ser334Ile) c.1490G>T (p.Ser497Ile) n.2837G>T | |
1 | g.11791223C>G | CA338474317 | MTHFR | c.1859G>C (p.Ser620Thr) c.1736G>C (p.Ser579Thr) c.1856G>C (p.Ser619Thr) c.*195G>C (n.*195G>C) c.*1248G>C (n.*1248G>C) n.2105G>C n.2253G>C c.1001G>C (p.Ser334Thr) c.1490G>C (p.Ser497Thr) n.2837G>C | |
1 | g.11791223C>T | CA338474319 | MTHFR | c.1859G>A (p.Ser620Asn) c.1736G>A (p.Ser579Asn) c.1856G>A (p.Ser619Asn) c.*195G>A (n.*195G>A) c.*1248G>A (n.*1248G>A) n.2105G>A n.2253G>A c.1001G>A (p.Ser334Asn) c.1490G>A (p.Ser497Asn) n.2837G>A | |
1 | g.11791224T>A | CA338474320 | MTHFR | c.1858A>T (p.Ser620Cys) c.1735A>T (p.Ser579Cys) c.1855A>T (p.Ser619Cys) c.*194A>T (n.*194A>T) c.*1247A>T (n.*1247A>T) n.2104A>T n.2252A>T c.1000A>T (p.Ser334Cys) c.1489A>T (p.Ser497Cys) n.2836A>T | |
1 | g.11791224T>C | CA338474322 | MTHFR | c.1858A>G (p.Ser620Gly) c.1735A>G (p.Ser579Gly) c.1855A>G (p.Ser619Gly) c.*194A>G (n.*194A>G) c.*1247A>G (n.*1247A>G) n.2104A>G n.2252A>G c.1000A>G (p.Ser334Gly) c.1489A>G (p.Ser497Gly) n.2836A>G | |
1 | g.11791224T>G | CA338474323 | MTHFR | c.1858A>C (p.Ser620Arg) c.1735A>C (p.Ser579Arg) c.1855A>C (p.Ser619Arg) c.*194A>C (n.*194A>C) c.*1247A>C (n.*1247A>C) n.2104A>C n.2252A>C c.1000A>C (p.Ser334Arg) c.1489A>C (p.Ser497Arg) n.2836A>C | |
1 | g.11791225G>A | CA416119810 | MTHFR | c.1857C>T (p.Val619=) c.1734C>T (p.Val578=) c.1854C>T (p.Val618=) c.*193C>T (n.*193C>T) c.*1246C>T (n.*1246C>T) n.2103C>T n.2251C>T c.999C>T (p.Val333=) c.1488C>T (p.Val496=) n.2835C>T | dbSNP |
1 | g.11791225G>C | CA595241 | MTHFR | c.1857C>G (p.Val619=) c.1734C>G (p.Val578=) c.1854C>G (p.Val618=) c.*193C>G (n.*193C>G) c.*1246C>G (n.*1246C>G) n.2103C>G n.2251C>G c.999C>G (p.Val333=) c.1488C>G (p.Val496=) n.2835C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11791225G= | CA1142029207 | MTHFR | c.1857C= (p.Val619=) c.1734C= (p.Val578=) c.1854C= (p.Val618=) c.*193C= (n.*193C=) c.*1246C= (n.*1246C=) n.2103C= n.2251C= c.999C= (p.Val333=) c.1488C= (p.Val496=) n.2835C= | |
1 | g.11791225G>T | CA416119811 | MTHFR | c.1857C>A (p.Val619=) c.1734C>A (p.Val578=) c.1854C>A (p.Val618=) c.*193C>A (n.*193C>A) c.*1246C>A (n.*1246C>A) n.2103C>A n.2251C>A c.999C>A (p.Val333=) c.1488C>A (p.Val496=) n.2835C>A | |
1 | g.11791226A= | CA1153792473 | MTHFR | c.1856T= (p.Val619=) c.1733T= (p.Val578=) c.1853T= (p.Val618=) c.*192T= (n.*192T=) c.*1245T= (n.*1245T=) n.2102T= n.2250T= c.998T= (p.Val333=) c.1487T= (p.Val496=) n.2834T= | |
1 | g.11791226A>C | CA338474328 | MTHFR | c.1856T>G (p.Val619Gly) c.1733T>G (p.Val578Gly) c.1853T>G (p.Val618Gly) c.*192T>G (n.*192T>G) c.*1245T>G (n.*1245T>G) n.2102T>G n.2250T>G c.998T>G (p.Val333Gly) c.1487T>G (p.Val496Gly) n.2834T>G | |
1 | g.11791226A>G | CA338474326 | MTHFR | c.1856T>C (p.Val619Ala) c.1733T>C (p.Val578Ala) c.1853T>C (p.Val618Ala) c.*192T>C (n.*192T>C) c.*1245T>C (n.*1245T>C) n.2102T>C n.2250T>C c.998T>C (p.Val333Ala) c.1487T>C (p.Val496Ala) n.2834T>C | dbSNP gnomAD v2 |
1 | g.11791226A>T | CA338474324 | MTHFR | c.1856T>A (p.Val619Asp) c.1733T>A (p.Val578Asp) c.1853T>A (p.Val618Asp) c.*192T>A (n.*192T>A) c.*1245T>A (n.*1245T>A) n.2102T>A n.2250T>A c.998T>A (p.Val333Asp) c.1487T>A (p.Val496Asp) n.2834T>A | |
1 | g.11791227C>A | CA338474330 | MTHFR | c.1855G>T (p.Val619Phe) c.1732G>T (p.Val578Phe) c.1852G>T (p.Val618Phe) c.*191G>T (n.*191G>T) c.*1244G>T (n.*1244G>T) n.2101G>T n.2249G>T c.997G>T (p.Val333Phe) c.1486G>T (p.Val496Phe) n.2833G>T | |
1 | g.11791227C= | CA1153792479 | MTHFR | c.1855G= (p.Val619=) c.1732G= (p.Val578=) c.1852G= (p.Val618=) c.*191G= (n.*191G=) c.*1244G= (n.*1244G=) n.2101G= n.2249G= c.997G= (p.Val333=) c.1486G= (p.Val496=) n.2833G= | |
1 | g.11791227C>G | CA338474332 | MTHFR | c.1855G>C (p.Val619Leu) c.1732G>C (p.Val578Leu) c.1852G>C (p.Val618Leu) c.*191G>C (n.*191G>C) c.*1244G>C (n.*1244G>C) n.2101G>C n.2249G>C c.997G>C (p.Val333Leu) c.1486G>C (p.Val496Leu) n.2833G>C | |
1 | g.11791227C>T | CA595242 | MTHFR | c.1855G>A (p.Val619Ile) c.1732G>A (p.Val578Ile) c.1852G>A (p.Val618Ile) c.*191G>A (n.*191G>A) c.*1244G>A (n.*1244G>A) n.2101G>A n.2249G>A c.997G>A (p.Val333Ile) c.1486G>A (p.Val496Ile) n.2833G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.11791228G>A | CA17999242 | MTHFR | c.1854C>T (p.Pro618=) c.1731C>T (p.Pro577=) c.1851C>T (p.Pro617=) c.*190C>T (n.*190C>T) c.*1243C>T (n.*1243C>T) n.2100C>T n.2248C>T c.996C>T (p.Pro332=) c.1485C>T (p.Pro495=) n.2832C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11791228G>C | CA416119813 | MTHFR | c.1854C>G (p.Pro618=) c.1731C>G (p.Pro577=) c.1851C>G (p.Pro617=) c.*190C>G (n.*190C>G) c.*1243C>G (n.*1243C>G) n.2100C>G n.2248C>G c.996C>G (p.Pro332=) c.1485C>G (p.Pro495=) n.2832C>G | |
1 | g.11791228G= | CA1153792486 | MTHFR | c.1854C= (p.Pro618=) c.1731C= (p.Pro577=) c.1851C= (p.Pro617=) c.*190C= (n.*190C=) c.*1243C= (n.*1243C=) n.2100C= n.2248C= c.996C= (p.Pro332=) c.1485C= (p.Pro495=) n.2832C= | |
1 | g.11791228G>T | CA416119812 | MTHFR | c.1854C>A (p.Pro618=) c.1731C>A (p.Pro577=) c.1851C>A (p.Pro617=) c.*190C>A (n.*190C>A) c.*1243C>A (n.*1243C>A) n.2100C>A n.2248C>A c.996C>A (p.Pro332=) c.1485C>A (p.Pro495=) n.2832C>A | |
1 | g.11791229G>A | CA338474335 | MTHFR | c.1853C>T (p.Pro618Leu) c.1730C>T (p.Pro577Leu) c.1850C>T (p.Pro617Leu) c.*189C>T (n.*189C>T) c.*1242C>T (n.*1242C>T) n.2099C>T n.2247C>T c.995C>T (p.Pro332Leu) c.1484C>T (p.Pro495Leu) n.2831C>T | |
1 | g.11791229G>C | CA338474337 | MTHFR | c.1853C>G (p.Pro618Arg) c.1730C>G (p.Pro577Arg) c.1850C>G (p.Pro617Arg) c.*189C>G (n.*189C>G) c.*1242C>G (n.*1242C>G) n.2099C>G n.2247C>G c.995C>G (p.Pro332Arg) c.1484C>G (p.Pro495Arg) n.2831C>G | |
1 | g.11791229G>T | CA338474339 | MTHFR | c.1853C>A (p.Pro618His) c.1730C>A (p.Pro577His) c.1850C>A (p.Pro617His) c.*189C>A (n.*189C>A) c.*1242C>A (n.*1242C>A) n.2099C>A n.2247C>A c.995C>A (p.Pro332His) c.1484C>A (p.Pro495His) n.2831C>A | |
1 | g.11791230G>A | CA338474341 | MTHFR | c.1852C>T (p.Pro618Ser) c.1729C>T (p.Pro577Ser) c.1849C>T (p.Pro617Ser) c.*188C>T (n.*188C>T) c.*1241C>T (n.*1241C>T) n.2098C>T n.2246C>T c.994C>T (p.Pro332Ser) c.1483C>T (p.Pro495Ser) n.2830C>T | |
1 | g.11791230G>C | CA338474342 | MTHFR | c.1852C>G (p.Pro618Ala) c.1729C>G (p.Pro577Ala) c.1849C>G (p.Pro617Ala) c.*188C>G (n.*188C>G) c.*1241C>G (n.*1241C>G) n.2098C>G n.2246C>G c.994C>G (p.Pro332Ala) c.1483C>G (p.Pro495Ala) n.2830C>G | |
1 | g.11791230G>T | CA338474344 | MTHFR | c.1852C>A (p.Pro618Thr) c.1729C>A (p.Pro577Thr) c.1849C>A (p.Pro617Thr) c.*188C>A (n.*188C>A) c.*1241C>A (n.*1241C>A) n.2098C>A n.2246C>A c.994C>A (p.Pro332Thr) c.1483C>A (p.Pro495Thr) n.2830C>A | |
1 | g.11791231A>C | CA338474346 | MTHFR | c.1851T>G (p.Asp617Glu) c.1728T>G (p.Asp576Glu) c.1848T>G (p.Asp616Glu) c.*187T>G (n.*187T>G) c.*1240T>G (n.*1240T>G) n.2097T>G n.2245T>G c.993T>G (p.Asp331Glu) c.1482T>G (p.Asp494Glu) n.2829T>G | |
1 | g.11791231A>G | CA416119817 | MTHFR | c.1851T>C (p.Asp617=) c.1728T>C (p.Asp576=) c.1848T>C (p.Asp616=) c.*187T>C (n.*187T>C) c.*1240T>C (n.*1240T>C) n.2097T>C n.2245T>C c.993T>C (p.Asp331=) c.1482T>C (p.Asp494=) n.2829T>C | |
1 | g.11791231A>T | CA338474348 | MTHFR | c.1851T>A (p.Asp617Glu) c.1728T>A (p.Asp576Glu) c.1848T>A (p.Asp616Glu) c.*187T>A (n.*187T>A) c.*1240T>A (n.*1240T>A) n.2097T>A n.2245T>A c.993T>A (p.Asp331Glu) c.1482T>A (p.Asp494Glu) n.2829T>A | |
1 | g.11791232T>A | CA338474350 | MTHFR | c.1850A>T (p.Asp617Val) c.1727A>T (p.Asp576Val) c.1847A>T (p.Asp616Val) c.*186A>T (n.*186A>T) c.*1239A>T (n.*1239A>T) n.2096A>T n.2244A>T c.992A>T (p.Asp331Val) c.1481A>T (p.Asp494Val) n.2828A>T | |
1 | g.11791232T>C | CA338474352 | MTHFR | c.1850A>G (p.Asp617Gly) c.1727A>G (p.Asp576Gly) c.1847A>G (p.Asp616Gly) c.*186A>G (n.*186A>G) c.*1239A>G (n.*1239A>G) n.2096A>G n.2244A>G c.992A>G (p.Asp331Gly) c.1481A>G (p.Asp494Gly) n.2828A>G | |
1 | g.11791232T>G | CA338474354 | MTHFR | c.1850A>C (p.Asp617Ala) c.1727A>C (p.Asp576Ala) c.1847A>C (p.Asp616Ala) c.*186A>C (n.*186A>C) c.*1239A>C (n.*1239A>C) n.2096A>C n.2244A>C c.992A>C (p.Asp331Ala) c.1481A>C (p.Asp494Ala) n.2828A>C | |
1 | g.11791233C>A | CA338474357 | MTHFR | c.1849G>T (p.Asp617Tyr) c.1726G>T (p.Asp576Tyr) c.1846G>T (p.Asp616Tyr) c.*185G>T (n.*185G>T) c.*1238G>T (n.*1238G>T) n.2095G>T n.2243G>T c.991G>T (p.Asp331Tyr) c.1480G>T (p.Asp494Tyr) n.2827G>T | |
1 | g.11791233C>G | CA338474359 | MTHFR | c.1849G>C (p.Asp617His) c.1726G>C (p.Asp576His) c.1846G>C (p.Asp616His) c.*185G>C (n.*185G>C) c.*1238G>C (n.*1238G>C) n.2095G>C n.2243G>C c.991G>C (p.Asp331His) c.1480G>C (p.Asp494His) n.2827G>C | |
1 | g.11791233C>T | CA338474355 | MTHFR | c.1849G>A (p.Asp617Asn) c.1726G>A (p.Asp576Asn) c.1846G>A (p.Asp616Asn) c.*185G>A (n.*185G>A) c.*1238G>A (n.*1238G>A) n.2095G>A n.2243G>A c.991G>A (p.Asp331Asn) c.1480G>A (p.Asp494Asn) n.2827G>A | |
1 | g.11791234C>A | CA416119822 | MTHFR | c.1848G>T (p.Val616=) c.1725G>T (p.Val575=) c.1845G>T (p.Val615=) c.*184G>T (n.*184G>T) c.*1237G>T (n.*1237G>T) n.2094G>T n.2242G>T c.990G>T (p.Val330=) c.1479G>T (p.Val493=) n.2826G>T | |
1 | g.11791234C= | CA1153792500 | MTHFR | c.1848G= (p.Val616=) c.1725G= (p.Val575=) c.1845G= (p.Val615=) c.*184G= (n.*184G=) c.*1237G= (n.*1237G=) n.2094G= n.2242G= c.990G= (p.Val330=) c.1479G= (p.Val493=) n.2826G= | |
1 | g.11791234C>G | CA416119823 | MTHFR | c.1848G>C (p.Val616=) c.1725G>C (p.Val575=) c.1845G>C (p.Val615=) c.*184G>C (n.*184G>C) c.*1237G>C (n.*1237G>C) n.2094G>C n.2242G>C c.990G>C (p.Val330=) c.1479G>C (p.Val493=) n.2826G>C | |
1 | g.11791234C>T | CA416119824 | MTHFR | c.1848G>A (p.Val616=) c.1725G>A (p.Val575=) c.1845G>A (p.Val615=) c.*184G>A (n.*184G>A) c.*1237G>A (n.*1237G>A) n.2094G>A n.2242G>A c.990G>A (p.Val330=) c.1479G>A (p.Val493=) n.2826G>A | dbSNP |
1 | g.11791235A= | CA1153792510 | MTHFR | c.1847T= (p.Val616=) c.1724T= (p.Val575=) c.1844T= (p.Val615=) c.*183T= (n.*183T=) c.*1236T= (n.*1236T=) n.2093T= n.2241T= c.989T= (p.Val330=) c.1478T= (p.Val493=) n.2825T= | |
1 | g.11791235A>C | CA198647 | MTHFR | c.1847T>G (p.Val616Gly) c.1724T>G (p.Val575Gly) c.1844T>G (p.Val615Gly) c.*183T>G (n.*183T>G) c.*1236T>G (n.*1236T>G) n.2093T>G n.2241T>G c.989T>G (p.Val330Gly) c.1478T>G (p.Val493Gly) n.2825T>G | ClinVar dbSNP gnomAD v4 |
1 | g.11791235A>G | CA338474361 | MTHFR | c.1847T>C (p.Val616Ala) c.1724T>C (p.Val575Ala) c.1844T>C (p.Val615Ala) c.*183T>C (n.*183T>C) c.*1236T>C (n.*1236T>C) n.2093T>C n.2241T>C c.989T>C (p.Val330Ala) c.1478T>C (p.Val493Ala) n.2825T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11791235A>T | CA338474363 | MTHFR | c.1847T>A (p.Val616Glu) c.1724T>A (p.Val575Glu) c.1844T>A (p.Val615Glu) c.*183T>A (n.*183T>A) c.*1236T>A (n.*1236T>A) n.2093T>A n.2241T>A c.989T>A (p.Val330Glu) c.1478T>A (p.Val493Glu) n.2825T>A | |
1 | g.11791236C>A | CA338474366 | MTHFR | c.1846G>T (p.Val616Leu) c.1723G>T (p.Val575Leu) c.1843G>T (p.Val615Leu) c.*182G>T (n.*182G>T) c.*1235G>T (n.*1235G>T) n.2092G>T n.2240G>T c.988G>T (p.Val330Leu) c.1477G>T (p.Val493Leu) n.2824G>T | |
1 | g.11791236C>G | CA338474368 | MTHFR | c.1846G>C (p.Val616Leu) c.1723G>C (p.Val575Leu) c.1843G>C (p.Val615Leu) c.*182G>C (n.*182G>C) c.*1235G>C (n.*1235G>C) n.2092G>C n.2240G>C c.988G>C (p.Val330Leu) c.1477G>C (p.Val493Leu) n.2824G>C | |
1 | g.11791236C>T | CA338474369 | MTHFR | c.1846G>A (p.Val616Met) c.1723G>A (p.Val575Met) c.1843G>A (p.Val615Met) c.*182G>A (n.*182G>A) c.*1235G>A (n.*1235G>A) n.2092G>A n.2240G>A c.988G>A (p.Val330Met) c.1477G>A (p.Val493Met) n.2824G>A | |
1 | g.11791237T>A | CA17999252 | MTHFR | c.1845A>T (p.Val615=) c.1722A>T (p.Val574=) c.1842A>T (p.Val614=) c.*181A>T (n.*181A>T) c.*1234A>T (n.*1234A>T) n.2091A>T n.2239A>T c.987A>T (p.Val329=) c.1476A>T (p.Val492=) n.2823A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11791237T>C | CA416119829 | MTHFR | c.1845A>G (p.Val615=) c.1722A>G (p.Val574=) c.1842A>G (p.Val614=) c.*181A>G (n.*181A>G) c.*1234A>G (n.*1234A>G) n.2091A>G n.2239A>G c.987A>G (p.Val329=) c.1476A>G (p.Val492=) n.2823A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.11791237T>G | CA416119830 | MTHFR | c.1845A>C (p.Val615=) c.1722A>C (p.Val574=) c.1842A>C (p.Val614=) c.*181A>C (n.*181A>C) c.*1234A>C (n.*1234A>C) n.2091A>C n.2239A>C c.987A>C (p.Val329=) c.1476A>C (p.Val492=) n.2823A>C | |
1 | g.11791237T= | CA1153792514 | MTHFR | c.1845A= (p.Val615=) c.1722A= (p.Val574=) c.1842A= (p.Val614=) c.*181A= (n.*181A=) c.*1234A= (n.*1234A=) n.2091A= n.2239A= c.987A= (p.Val329=) c.1476A= (p.Val492=) n.2823A= | |
1 | g.11791238del | CA10575432 | MTHFR | c.1844del (p.Val615GlufsTer?) c.1721del (p.Val574GlufsTer?) c.1841del (p.Val614GlufsTer?) c.1721del (p.Val574GlufsTer23) c.*180del (n.*180del) c.*1233del (n.*1233del) n.2090del n.2238del c.986del (p.Val329GlufsTer?) c.1475del (p.Val492GlufsTer?) c.1844del (p.Val615GlufsTer23) n.2822del | |
1 | g.11791238A= | CA1153792520 | MTHFR | c.1844T= (p.Val615=) c.1721T= (p.Val574=) c.1841T= (p.Val614=) c.*180T= (n.*180T=) c.*1233T= (n.*1233T=) n.2090T= n.2238T= c.986T= (p.Val329=) c.1475T= (p.Val492=) n.2822T= | |
1 | g.11791238A>C | CA338474371 | MTHFR | c.1844T>G (p.Val615Gly) c.1721T>G (p.Val574Gly) c.1841T>G (p.Val614Gly) c.*180T>G (n.*180T>G) c.*1233T>G (n.*1233T>G) n.2090T>G n.2238T>G c.986T>G (p.Val329Gly) c.1475T>G (p.Val492Gly) n.2822T>G | dbSNP |
1 | g.11791238A>G | CA338474373 | MTHFR | c.1844T>C (p.Val615Ala) c.1721T>C (p.Val574Ala) c.1841T>C (p.Val614Ala) c.*180T>C (n.*180T>C) c.*1233T>C (n.*1233T>C) n.2090T>C n.2238T>C c.986T>C (p.Val329Ala) c.1475T>C (p.Val492Ala) n.2822T>C | |
1 | g.11791238A>T | CA338474375 | MTHFR | c.1844T>A (p.Val615Glu) c.1721T>A (p.Val574Glu) c.1841T>A (p.Val614Glu) c.*180T>A (n.*180T>A) c.*1233T>A (n.*1233T>A) n.2090T>A n.2238T>A c.986T>A (p.Val329Glu) c.1475T>A (p.Val492Glu) n.2822T>A | |
1 | g.11791239C>A | CA338474377 | MTHFR | c.1843G>T (p.Val615Leu) c.1720G>T (p.Val574Leu) c.1840G>T (p.Val614Leu) c.*179G>T (n.*179G>T) c.*1232G>T (n.*1232G>T) n.2089G>T n.2237G>T c.985G>T (p.Val329Leu) c.1474G>T (p.Val492Leu) n.2821G>T | |
1 | g.11791239C= | CA1143529087 | MTHFR | c.1843G= (p.Val615=) c.1720G= (p.Val574=) c.1840G= (p.Val614=) c.*179G= (n.*179G=) c.*1232G= (n.*1232G=) n.2089G= n.2237G= c.985G= (p.Val329=) c.1474G= (p.Val492=) n.2821G= | |
1 | g.11791239C>G | CA338474379 | MTHFR | c.1843G>C (p.Val615Leu) c.1720G>C (p.Val574Leu) c.1840G>C (p.Val614Leu) c.*179G>C (n.*179G>C) c.*1232G>C (n.*1232G>C) n.2089G>C n.2237G>C c.985G>C (p.Val329Leu) c.1474G>C (p.Val492Leu) n.2821G>C | gnomAD v4 |
1 | g.11791239C>T | CA595243 | MTHFR | c.1843G>A (p.Val615Ile) c.1720G>A (p.Val574Ile) c.1840G>A (p.Val614Ile) c.*179G>A (n.*179G>A) c.*1232G>A (n.*1232G>A) n.2089G>A n.2237G>A c.985G>A (p.Val329Ile) c.1474G>A (p.Val492Ile) n.2821G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11791240G>A | CA595244 | MTHFR | c.1842C>T (p.Thr614=) c.1719C>T (p.Thr573=) c.1839C>T (p.Thr613=) c.*178C>T (n.*178C>T) c.*1231C>T (n.*1231C>T) n.2088C>T n.2236C>T c.984C>T (p.Thr328=) c.1473C>T (p.Thr491=) n.2820C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11791240G>C | CA416119832 | MTHFR | c.1842C>G (p.Thr614=) c.1719C>G (p.Thr573=) c.1839C>G (p.Thr613=) c.*178C>G (n.*178C>G) c.*1231C>G (n.*1231C>G) n.2088C>G n.2236C>G c.984C>G (p.Thr328=) c.1473C>G (p.Thr491=) n.2820C>G | |
1 | g.11791240G= | CA1142311263 | MTHFR | c.1842C= (p.Thr614=) c.1719C= (p.Thr573=) c.1839C= (p.Thr613=) c.*178C= (n.*178C=) c.*1231C= (n.*1231C=) n.2088C= n.2236C= c.984C= (p.Thr328=) c.1473C= (p.Thr491=) n.2820C= | |
1 | g.11791240G>T | CA416119833 | MTHFR | c.1842C>A (p.Thr614=) c.1719C>A (p.Thr573=) c.1839C>A (p.Thr613=) c.*178C>A (n.*178C>A) c.*1231C>A (n.*1231C>A) n.2088C>A n.2236C>A c.984C>A (p.Thr328=) c.1473C>A (p.Thr491=) n.2820C>A | |
1 | g.11791241G>A | CA338474385 | MTHFR | c.1841C>T (p.Thr614Ile) c.1718C>T (p.Thr573Ile) c.1838C>T (p.Thr613Ile) c.*177C>T (n.*177C>T) c.*1230C>T (n.*1230C>T) n.2087C>T n.2235C>T c.983C>T (p.Thr328Ile) c.1472C>T (p.Thr491Ile) n.2819C>T | |
1 | g.11791241G>C | CA338474383 | MTHFR | c.1841C>G (p.Thr614Ser) c.1718C>G (p.Thr573Ser) c.1838C>G (p.Thr613Ser) c.*177C>G (n.*177C>G) c.*1230C>G (n.*1230C>G) n.2087C>G n.2235C>G c.983C>G (p.Thr328Ser) c.1472C>G (p.Thr491Ser) n.2819C>G | |
1 | g.11791241G>T | CA338474384 | MTHFR | c.1841C>A (p.Thr614Asn) c.1718C>A (p.Thr573Asn) c.1838C>A (p.Thr613Asn) c.*177C>A (n.*177C>A) c.*1230C>A (n.*1230C>A) n.2087C>A n.2235C>A c.983C>A (p.Thr328Asn) c.1472C>A (p.Thr491Asn) n.2819C>A | |
1 | g.11791242T>A | CA338474387 | MTHFR | c.1840A>T (p.Thr614Ser) c.1717A>T (p.Thr573Ser) c.1837A>T (p.Thr613Ser) c.*176A>T (n.*176A>T) c.*1229A>T (n.*1229A>T) n.2086A>T n.2234A>T c.982A>T (p.Thr328Ser) c.1471A>T (p.Thr491Ser) n.2818A>T | |
1 | g.11791242T>C | CA338474389 | MTHFR | c.1840A>G (p.Thr614Ala) c.1717A>G (p.Thr573Ala) c.1837A>G (p.Thr613Ala) c.*176A>G (n.*176A>G) c.*1229A>G (n.*1229A>G) n.2086A>G n.2234A>G c.982A>G (p.Thr328Ala) c.1471A>G (p.Thr491Ala) n.2818A>G | |
1 | g.11791242T>G | CA338474390 | MTHFR | c.1840A>C (p.Thr614Pro) c.1717A>C (p.Thr573Pro) c.1837A>C (p.Thr613Pro) c.*176A>C (n.*176A>C) c.*1229A>C (n.*1229A>C) n.2086A>C n.2234A>C c.982A>C (p.Thr328Pro) c.1471A>C (p.Thr491Pro) n.2818A>C | dbSNP |
1 | g.11791242T= | CA1153792550 | MTHFR | c.1840A= (p.Thr614=) c.1717A= (p.Thr573=) c.1837A= (p.Thr613=) c.*176A= (n.*176A=) c.*1229A= (n.*1229A=) n.2086A= n.2234A= c.982A= (p.Thr328=) c.1471A= (p.Thr491=) n.2818A= | |
1 | g.11791243G>A | CA416119836 | MTHFR | c.1839C>T (p.Pro613=) c.1716C>T (p.Pro572=) c.1836C>T (p.Pro612=) c.*175C>T (n.*175C>T) c.*1228C>T (n.*1228C>T) n.2085C>T n.2233C>T c.981C>T (p.Pro327=) c.1470C>T (p.Pro490=) n.2817C>T | gnomAD v4 |
1 | g.11791243G>C | CA416119837 | MTHFR | c.1839C>G (p.Pro613=) c.1716C>G (p.Pro572=) c.1836C>G (p.Pro612=) c.*175C>G (n.*175C>G) c.*1228C>G (n.*1228C>G) n.2085C>G n.2233C>G c.981C>G (p.Pro327=) c.1470C>G (p.Pro490=) n.2817C>G | gnomAD v4 |
1 | g.11791243G>T | CA416119838 | MTHFR | c.1839C>A (p.Pro613=) c.1716C>A (p.Pro572=) c.1836C>A (p.Pro612=) c.*175C>A (n.*175C>A) c.*1228C>A (n.*1228C>A) n.2085C>A n.2233C>A c.981C>A (p.Pro327=) c.1470C>A (p.Pro490=) n.2817C>A | |
1 | g.11791244G>A | CA595245 | MTHFR | c.1838C>T (p.Pro613Leu) c.1715C>T (p.Pro572Leu) c.1835C>T (p.Pro612Leu) c.*174C>T (n.*174C>T) c.*1227C>T (n.*1227C>T) n.2084C>T n.2232C>T c.980C>T (p.Pro327Leu) c.1469C>T (p.Pro490Leu) n.2816C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11791244G>C | CA338474392 | MTHFR | c.1838C>G (p.Pro613Arg) c.1715C>G (p.Pro572Arg) c.1835C>G (p.Pro612Arg) c.*174C>G (n.*174C>G) c.*1227C>G (n.*1227C>G) n.2084C>G n.2232C>G c.980C>G (p.Pro327Arg) c.1469C>G (p.Pro490Arg) n.2816C>G | gnomAD v4 |
1 | g.11791244G= | CA1141995457 | MTHFR | c.1838C= (p.Pro613=) c.1715C= (p.Pro572=) c.1835C= (p.Pro612=) c.*174C= (n.*174C=) c.*1227C= (n.*1227C=) n.2084C= n.2232C= c.980C= (p.Pro327=) c.1469C= (p.Pro490=) n.2816C= | |
1 | g.11791244G>T | CA338474393 | MTHFR | c.1838C>A (p.Pro613His) c.1715C>A (p.Pro572His) c.1835C>A (p.Pro612His) c.*174C>A (n.*174C>A) c.*1227C>A (n.*1227C>A) n.2084C>A n.2232C>A c.980C>A (p.Pro327His) c.1469C>A (p.Pro490His) n.2816C>A | |
1 | g.11791245G>A | CA338474394 | MTHFR | c.1837C>T (p.Pro613Ser) c.1714C>T (p.Pro572Ser) c.1834C>T (p.Pro612Ser) c.*173C>T (n.*173C>T) c.*1226C>T (n.*1226C>T) n.2083C>T n.2231C>T c.979C>T (p.Pro327Ser) c.1468C>T (p.Pro490Ser) n.2815C>T | |
1 | g.11791245G>C | CA338474395 | MTHFR | c.1837C>G (p.Pro613Ala) c.1714C>G (p.Pro572Ala) c.1834C>G (p.Pro612Ala) c.*173C>G (n.*173C>G) c.*1226C>G (n.*1226C>G) n.2083C>G n.2231C>G c.979C>G (p.Pro327Ala) c.1468C>G (p.Pro490Ala) n.2815C>G | |
1 | g.11791245G>T | CA338474397 | MTHFR | c.1837C>A (p.Pro613Thr) c.1714C>A (p.Pro572Thr) c.1834C>A (p.Pro612Thr) c.*173C>A (n.*173C>A) c.*1226C>A (n.*1226C>A) n.2083C>A n.2231C>A c.979C>A (p.Pro327Thr) c.1468C>A (p.Pro490Thr) n.2815C>A | |
1 | g.11791246C>A | CA338474398 | MTHFR | c.1836G>T (p.Gln612His) c.1713G>T (p.Gln571His) c.1833G>T (p.Gln611His) c.*172G>T (n.*172G>T) c.*1225G>T (n.*1225G>T) n.2082G>T n.2230G>T c.978G>T (p.Gln326His) c.1467G>T (p.Gln489His) n.2814G>T | |
1 | g.11791246C>G | CA338474400 | MTHFR | c.1836G>C (p.Gln612His) c.1713G>C (p.Gln571His) c.1833G>C (p.Gln611His) c.*172G>C (n.*172G>C) c.*1225G>C (n.*1225G>C) n.2082G>C n.2230G>C c.978G>C (p.Gln326His) c.1467G>C (p.Gln489His) n.2814G>C | |
1 | g.11791246C>T | CA416119844 | MTHFR | c.1836G>A (p.Gln612=) c.1713G>A (p.Gln571=) c.1833G>A (p.Gln611=) c.*172G>A (n.*172G>A) c.*1225G>A (n.*1225G>A) n.2082G>A n.2230G>A c.978G>A (p.Gln326=) c.1467G>A (p.Gln489=) n.2814G>A | |
1 | g.11791247del | CA2573130470 | MTHFR | c.1835del (p.Gln612ArgfsTer4) c.1712del (p.Gln571ArgfsTer4) c.1832del (p.Gln611ArgfsTer4) c.*171del (n.*171del) c.*1224del (n.*1224del) n.2081del n.2229del c.977del (p.Gln326ArgfsTer4) c.1466del (p.Gln489ArgfsTer4) n.2813del | ClinVar dbSNP |
1 | g.11791247T>A | CA338474406 | MTHFR | c.1835A>T (p.Gln612Leu) c.1712A>T (p.Gln571Leu) c.1832A>T (p.Gln611Leu) c.*171A>T (n.*171A>T) c.*1224A>T (n.*1224A>T) n.2081A>T n.2229A>T c.977A>T (p.Gln326Leu) c.1466A>T (p.Gln489Leu) n.2813A>T | |
1 | g.11791247T>C | CA338474404 | MTHFR | c.1835A>G (p.Gln612Arg) c.1712A>G (p.Gln571Arg) c.1832A>G (p.Gln611Arg) c.*171A>G (n.*171A>G) c.*1224A>G (n.*1224A>G) n.2081A>G n.2229A>G c.977A>G (p.Gln326Arg) c.1466A>G (p.Gln489Arg) n.2813A>G | |
1 | g.11791247T>G | CA338474402 | MTHFR | c.1835A>C (p.Gln612Pro) c.1712A>C (p.Gln571Pro) c.1832A>C (p.Gln611Pro) c.*171A>C (n.*171A>C) c.*1224A>C (n.*1224A>C) n.2081A>C n.2229A>C c.977A>C (p.Gln326Pro) c.1466A>C (p.Gln489Pro) n.2813A>C | |
1 | g.11791248G>A | CA338474408 | MTHFR | c.1834C>T (p.Gln612Ter) c.1711C>T (p.Gln571Ter) c.1831C>T (p.Gln611Ter) c.*170C>T (n.*170C>T) c.*1223C>T (n.*1223C>T) n.2080C>T n.2228C>T c.976C>T (p.Gln326Ter) c.1465C>T (p.Gln489Ter) n.2812C>T | ClinVar dbSNP |
1 | g.11791248G>C | CA338474411 | MTHFR | c.1834C>G (p.Gln612Glu) c.1711C>G (p.Gln571Glu) c.1831C>G (p.Gln611Glu) c.*170C>G (n.*170C>G) c.*1223C>G (n.*1223C>G) n.2080C>G n.2228C>G c.976C>G (p.Gln326Glu) c.1465C>G (p.Gln489Glu) n.2812C>G | |
1 | g.11791248G= | CA1153792558 | MTHFR | c.1834C= (p.Gln612=) c.1711C= (p.Gln571=) c.1831C= (p.Gln611=) c.*170C= (n.*170C=) c.*1223C= (n.*1223C=) n.2080C= n.2228C= c.976C= (p.Gln326=) c.1465C= (p.Gln489=) n.2812C= | |
1 | g.11791248G>T | CA338474410 | MTHFR | c.1834C>A (p.Gln612Lys) c.1711C>A (p.Gln571Lys) c.1831C>A (p.Gln611Lys) c.*170C>A (n.*170C>A) c.*1223C>A (n.*1223C>A) n.2080C>A n.2228C>A c.976C>A (p.Gln326Lys) c.1465C>A (p.Gln489Lys) n.2812C>A | |
1 | g.11791249G>A | CA416119847 | MTHFR | c.1833C>T (p.Ile611=) c.1710C>T (p.Ile570=) c.1830C>T (p.Ile610=) c.*169C>T (n.*169C>T) c.*1222C>T (n.*1222C>T) n.2079C>T n.2227C>T c.975C>T (p.Ile325=) c.1464C>T (p.Ile488=) n.2811C>T | |
1 | g.11791249G>C | CA338474413 | MTHFR | c.1833C>G (p.Ile611Met) c.1710C>G (p.Ile570Met) c.1830C>G (p.Ile610Met) c.*169C>G (n.*169C>G) c.*1222C>G (n.*1222C>G) n.2079C>G n.2227C>G c.975C>G (p.Ile325Met) c.1464C>G (p.Ile488Met) n.2811C>G | |
1 | g.11791249G>T | CA416119848 | MTHFR | c.1833C>A (p.Ile611=) c.1710C>A (p.Ile570=) c.1830C>A (p.Ile610=) c.*169C>A (n.*169C>A) c.*1222C>A (n.*1222C>A) n.2079C>A n.2227C>A c.975C>A (p.Ile325=) c.1464C>A (p.Ile488=) n.2811C>A | |
1 | g.11791250A>C | CA338474415 | MTHFR | c.1832T>G (p.Ile611Ser) c.1709T>G (p.Ile570Ser) c.1829T>G (p.Ile610Ser) c.*168T>G (n.*168T>G) c.*1221T>G (n.*1221T>G) n.2078T>G n.2226T>G c.974T>G (p.Ile325Ser) c.1463T>G (p.Ile488Ser) n.2810T>G | |
1 | g.11791250A>G | CA338474417 | MTHFR | c.1832T>C (p.Ile611Thr) c.1709T>C (p.Ile570Thr) c.1829T>C (p.Ile610Thr) c.*168T>C (n.*168T>C) c.*1221T>C (n.*1221T>C) n.2078T>C n.2226T>C c.974T>C (p.Ile325Thr) c.1463T>C (p.Ile488Thr) n.2810T>C | gnomAD v4 |
1 | g.11791250A>T | CA338474418 | MTHFR | c.1832T>A (p.Ile611Asn) c.1709T>A (p.Ile570Asn) c.1829T>A (p.Ile610Asn) c.*168T>A (n.*168T>A) c.*1221T>A (n.*1221T>A) n.2078T>A n.2226T>A c.974T>A (p.Ile325Asn) c.1463T>A (p.Ile488Asn) n.2810T>A | |
1 | g.11791251T>A | CA338474421 | MTHFR | c.1831A>T (p.Ile611Phe) c.1708A>T (p.Ile570Phe) c.1828A>T (p.Ile610Phe) c.*167A>T (n.*167A>T) c.*1220A>T (n.*1220A>T) n.2077A>T n.2225A>T c.973A>T (p.Ile325Phe) c.1462A>T (p.Ile488Phe) n.2809A>T | gnomAD v4 |
1 | g.11791251T>C | CA338474423 | MTHFR | c.1831A>G (p.Ile611Val) c.1708A>G (p.Ile570Val) c.1828A>G (p.Ile610Val) c.*167A>G (n.*167A>G) c.*1220A>G (n.*1220A>G) n.2077A>G n.2225A>G c.973A>G (p.Ile325Val) c.1462A>G (p.Ile488Val) n.2809A>G | |
1 | g.11791251T>G | CA338474424 | MTHFR | c.1831A>C (p.Ile611Leu) c.1708A>C (p.Ile570Leu) c.1828A>C (p.Ile610Leu) c.*167A>C (n.*167A>C) c.*1220A>C (n.*1220A>C) n.2077A>C n.2225A>C c.973A>C (p.Ile325Leu) c.1462A>C (p.Ile488Leu) n.2809A>C | |
1 | g.11791252G>A | CA416119849 | MTHFR | c.1830C>T (p.Ile610=) c.1707C>T (p.Ile569=) c.1827C>T (p.Ile609=) c.*166C>T (n.*166C>T) c.*1219C>T (n.*1219C>T) n.2076C>T n.2224C>T c.972C>T (p.Ile324=) c.1461C>T (p.Ile487=) n.2808C>T | gnomAD v4 |
1 | g.11791252G>C | CA338474426 | MTHFR | c.1830C>G (p.Ile610Met) c.1707C>G (p.Ile569Met) c.1827C>G (p.Ile609Met) c.*166C>G (n.*166C>G) c.*1219C>G (n.*1219C>G) n.2076C>G n.2224C>G c.972C>G (p.Ile324Met) c.1461C>G (p.Ile487Met) n.2808C>G | |
1 | g.11791252G>T | CA416119850 | MTHFR | c.1830C>A (p.Ile610=) c.1707C>A (p.Ile569=) c.1827C>A (p.Ile609=) c.*166C>A (n.*166C>A) c.*1219C>A (n.*1219C>A) n.2076C>A n.2224C>A c.972C>A (p.Ile324=) c.1461C>A (p.Ile487=) n.2808C>A | |
1 | g.11791253A>C | CA338474427 | MTHFR | c.1829T>G (p.Ile610Ser) c.1706T>G (p.Ile569Ser) c.1826T>G (p.Ile609Ser) c.*165T>G (n.*165T>G) c.*1218T>G (n.*1218T>G) n.2075T>G n.2223T>G c.971T>G (p.Ile324Ser) c.1460T>G (p.Ile487Ser) n.2807T>G | |
1 | g.11791253A>G | CA338474429 | MTHFR | c.1829T>C (p.Ile610Thr) c.1706T>C (p.Ile569Thr) c.1826T>C (p.Ile609Thr) c.*165T>C (n.*165T>C) c.*1218T>C (n.*1218T>C) n.2075T>C n.2223T>C c.971T>C (p.Ile324Thr) c.1460T>C (p.Ile487Thr) n.2807T>C | |
1 | g.11791253A>T | CA338474430 | MTHFR | c.1829T>A (p.Ile610Asn) c.1706T>A (p.Ile569Asn) c.1826T>A (p.Ile609Asn) c.*165T>A (n.*165T>A) c.*1218T>A (n.*1218T>A) n.2075T>A n.2223T>A c.971T>A (p.Ile324Asn) c.1460T>A (p.Ile487Asn) n.2807T>A | |
1 | g.11791254T>A | CA338474431 | MTHFR | c.1828A>T (p.Ile610Phe) c.1705A>T (p.Ile569Phe) c.1825A>T (p.Ile609Phe) c.*164A>T (n.*164A>T) c.*1217A>T (n.*1217A>T) n.2074A>T n.2222A>T c.970A>T (p.Ile324Phe) c.1459A>T (p.Ile487Phe) n.2806A>T | |
1 | g.11791254T>C | CA338474433 | MTHFR | c.1828A>G (p.Ile610Val) c.1705A>G (p.Ile569Val) c.1825A>G (p.Ile609Val) c.*164A>G (n.*164A>G) c.*1217A>G (n.*1217A>G) n.2074A>G n.2222A>G c.970A>G (p.Ile324Val) c.1459A>G (p.Ile487Val) n.2806A>G | |
1 | g.11791254T>G | CA338474435 | MTHFR | c.1828A>C (p.Ile610Leu) c.1705A>C (p.Ile569Leu) c.1825A>C (p.Ile609Leu) c.*164A>C (n.*164A>C) c.*1217A>C (n.*1217A>C) n.2074A>C n.2222A>C c.970A>C (p.Ile324Leu) c.1459A>C (p.Ile487Leu) n.2806A>C | |
1 | g.11791258_11791259dup | CA2742479662 | MTHFR | c.1827_1828dup (p.Ile610ArgfsTer7) c.1704_1705dup (p.Ile569ArgfsTer7) c.1824_1825dup (p.Ile609ArgfsTer7) c.*163_*164dup (n.*163_*164dup) c.*1216_*1217dup (n.*1216_*1217dup) n.2073_2074dup n.2221_2222dup c.969_970dup (p.Ile324ArgfsTer7) c.1458_1459dup (p.Ile487ArgfsTer7) n.2805_2806dup | |
1 | g.11791255C>A | CA338474437 | MTHFR | c.1827G>T (p.Glu609Asp) c.1704G>T (p.Glu568Asp) c.1824G>T (p.Glu608Asp) c.*163G>T (n.*163G>T) c.*1216G>T (n.*1216G>T) n.2073G>T n.2221G>T c.969G>T (p.Glu323Asp) c.1458G>T (p.Glu486Asp) n.2805G>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11791255C= | CA1153792564 | MTHFR | c.1827G= (p.Glu609=) c.1704G= (p.Glu568=) c.1824G= (p.Glu608=) c.*163G= (n.*163G=) c.*1216G= (n.*1216G=) n.2073G= n.2221G= c.969G= (p.Glu323=) c.1458G= (p.Glu486=) n.2805G= | |
1 | g.11791255C>G | CA338474438 | MTHFR | c.1827G>C (p.Glu609Asp) c.1704G>C (p.Glu568Asp) c.1824G>C (p.Glu608Asp) c.*163G>C (n.*163G>C) c.*1216G>C (n.*1216G>C) n.2073G>C n.2221G>C c.969G>C (p.Glu323Asp) c.1458G>C (p.Glu486Asp) n.2805G>C | |
1 | g.11791255C>T | CA416119851 | MTHFR | c.1827G>A (p.Glu609=) c.1704G>A (p.Glu568=) c.1824G>A (p.Glu608=) c.*163G>A (n.*163G>A) c.*1216G>A (n.*1216G>A) n.2073G>A n.2221G>A c.969G>A (p.Glu323=) c.1458G>A (p.Glu486=) n.2805G>A | ClinVar dbSNP |
1 | g.11791256T>A | CA338474440 | MTHFR | c.1826A>T (p.Glu609Val) c.1703A>T (p.Glu568Val) c.1823A>T (p.Glu608Val) c.*162A>T (n.*162A>T) c.*1215A>T (n.*1215A>T) n.2072A>T n.2220A>T c.968A>T (p.Glu323Val) c.1457A>T (p.Glu486Val) n.2804A>T | |
1 | g.11791256T>C | CA338474442 | MTHFR | c.1826A>G (p.Glu609Gly) c.1703A>G (p.Glu568Gly) c.1823A>G (p.Glu608Gly) c.*162A>G (n.*162A>G) c.*1215A>G (n.*1215A>G) n.2072A>G n.2220A>G c.968A>G (p.Glu323Gly) c.1457A>G (p.Glu486Gly) n.2804A>G | |
1 | g.11791256T>G | CA338474444 | MTHFR | c.1826A>C (p.Glu609Ala) c.1703A>C (p.Glu568Ala) c.1823A>C (p.Glu608Ala) c.*162A>C (n.*162A>C) c.*1215A>C (n.*1215A>C) n.2072A>C n.2220A>C c.968A>C (p.Glu323Ala) c.1457A>C (p.Glu486Ala) n.2804A>C | |
1 | g.11791257C>A | CA338474446 | MTHFR | c.1825G>T (p.Glu609Ter) c.1702G>T (p.Glu568Ter) c.1822G>T (p.Glu608Ter) c.*161G>T (n.*161G>T) c.*1214G>T (n.*1214G>T) n.2071G>T n.2219G>T c.967G>T (p.Glu323Ter) c.1456G>T (p.Glu486Ter) n.2803G>T | |
1 | g.11791257C>G | CA338474448 | MTHFR | c.1825G>C (p.Glu609Gln) c.1702G>C (p.Glu568Gln) c.1822G>C (p.Glu608Gln) c.*161G>C (n.*161G>C) c.*1214G>C (n.*1214G>C) n.2071G>C n.2219G>C c.967G>C (p.Glu323Gln) c.1456G>C (p.Glu486Gln) n.2803G>C | |
1 | g.11791257C>T | CA338474449 | MTHFR | c.1825G>A (p.Glu609Lys) c.1702G>A (p.Glu568Lys) c.1822G>A (p.Glu608Lys) c.*161G>A (n.*161G>A) c.*1214G>A (n.*1214G>A) n.2071G>A n.2219G>A c.967G>A (p.Glu323Lys) c.1456G>A (p.Glu486Lys) n.2803G>A | |
1 | g.11791258T>A | CA416119852 | MTHFR | c.1824A>T (p.Arg608=) c.1701A>T (p.Arg567=) c.1821A>T (p.Arg607=) c.*160A>T (n.*160A>T) c.*1213A>T (n.*1213A>T) n.2070A>T n.2218A>T c.966A>T (p.Arg322=) c.1455A>T (p.Arg485=) n.2802A>T | |
1 | g.11791258T>C | CA595246 | MTHFR | c.1824A>G (p.Arg608=) c.1701A>G (p.Arg567=) c.1821A>G (p.Arg607=) c.*160A>G (n.*160A>G) c.*1213A>G (n.*1213A>G) n.2070A>G n.2218A>G c.966A>G (p.Arg322=) c.1455A>G (p.Arg485=) n.2802A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11791258T>G | CA416119853 | MTHFR | c.1824A>C (p.Arg608=) c.1701A>C (p.Arg567=) c.1821A>C (p.Arg607=) c.*160A>C (n.*160A>C) c.*1213A>C (n.*1213A>C) n.2070A>C n.2218A>C c.966A>C (p.Arg322=) c.1455A>C (p.Arg485=) n.2802A>C | |
1 | g.11791258T= | CA1153792567 | MTHFR | c.1824A= (p.Arg608=) c.1701A= (p.Arg567=) c.1821A= (p.Arg607=) c.*160A= (n.*160A=) c.*1213A= (n.*1213A=) n.2070A= n.2218A= c.966A= (p.Arg322=) c.1455A= (p.Arg485=) n.2802A= | |
1 | g.11791259C>A | CA338474453 | MTHFR | c.1823G>T (p.Arg608Leu) c.1700G>T (p.Arg567Leu) c.1820G>T (p.Arg607Leu) c.*159G>T (n.*159G>T) c.*1212G>T (n.*1212G>T) n.2069G>T n.2217G>T c.965G>T (p.Arg322Leu) c.1454G>T (p.Arg485Leu) n.2801G>T | |
1 | g.11791259C= | CA1153792572 | MTHFR | c.1823G= (p.Arg608=) c.1700G= (p.Arg567=) c.1820G= (p.Arg607=) c.*159G= (n.*159G=) c.*1212G= (n.*1212G=) n.2069G= n.2217G= c.965G= (p.Arg322=) c.1454G= (p.Arg485=) n.2801G= | |
1 | g.11791259C>G | CA338474455 | MTHFR | c.1823G>C (p.Arg608Pro) c.1700G>C (p.Arg567Pro) c.1820G>C (p.Arg607Pro) c.*159G>C (n.*159G>C) c.*1212G>C (n.*1212G>C) n.2069G>C n.2217G>C c.965G>C (p.Arg322Pro) c.1454G>C (p.Arg485Pro) n.2801G>C | |
1 | g.11791259C>T | CA595247 | MTHFR | c.1823G>A (p.Arg608Gln) c.1700G>A (p.Arg567Gln) c.1820G>A (p.Arg607Gln) c.*159G>A (n.*159G>A) c.*1212G>A (n.*1212G>A) n.2069G>A n.2217G>A c.965G>A (p.Arg322Gln) c.1454G>A (p.Arg485Gln) n.2801G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11791260G>A | CA595248 | MTHFR | c.1822C>T (p.Arg608Ter) c.1699C>T (p.Arg567Ter) c.1819C>T (p.Arg607Ter) c.*158C>T (n.*158C>T) c.*1211C>T (n.*1211C>T) n.2068C>T n.2216C>T c.964C>T (p.Arg322Ter) c.1453C>T (p.Arg485Ter) n.2800C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11791260G>C | CA338474458 | MTHFR | c.1822C>G (p.Arg608Gly) c.1699C>G (p.Arg567Gly) c.1819C>G (p.Arg607Gly) c.*158C>G (n.*158C>G) c.*1211C>G (n.*1211C>G) n.2068C>G n.2216C>G c.964C>G (p.Arg322Gly) c.1453C>G (p.Arg485Gly) n.2800C>G | |
1 | g.11791260G= | CA1141732445 | MTHFR | c.1822C= (p.Arg608=) c.1699C= (p.Arg567=) c.1819C= (p.Arg607=) c.*158C= (n.*158C=) c.*1211C= (n.*1211C=) n.2068C= n.2216C= c.964C= (p.Arg322=) c.1453C= (p.Arg485=) n.2800C= | |
1 | g.11791260G>T | CA416119854 | MTHFR | c.1822C>A (p.Arg608=) c.1699C>A (p.Arg567=) c.1819C>A (p.Arg607=) c.*158C>A (n.*158C>A) c.*1211C>A (n.*1211C>A) n.2068C>A n.2216C>A c.964C>A (p.Arg322=) c.1453C>A (p.Arg485=) n.2800C>A | |
1 | g.11791261C>A | CA416119855 | MTHFR | c.1821G>T (p.Gly607=) c.1698G>T (p.Gly566=) c.1818G>T (p.Gly606=) c.*157G>T (n.*157G>T) c.*1210G>T (n.*1210G>T) n.2067G>T n.2215G>T c.963G>T (p.Gly321=) c.1452G>T (p.Gly484=) n.2799G>T | |
1 | g.11791261C>G | CA416119856 | MTHFR | c.1821G>C (p.Gly607=) c.1698G>C (p.Gly566=) c.1818G>C (p.Gly606=) c.*157G>C (n.*157G>C) c.*1210G>C (n.*1210G>C) n.2067G>C n.2215G>C c.963G>C (p.Gly321=) c.1452G>C (p.Gly484=) n.2799G>C | |
1 | g.11791261C>T | CA416119857 | MTHFR | c.1821G>A (p.Gly607=) c.1698G>A (p.Gly566=) c.1818G>A (p.Gly606=) c.*157G>A (n.*157G>A) c.*1210G>A (n.*1210G>A) n.2067G>A n.2215G>A c.963G>A (p.Gly321=) c.1452G>A (p.Gly484=) n.2799G>A | ClinVar dbSNP gnomAD v4 |
1 | g.11791262C>A | CA338474461 | MTHFR | c.1820G>T (p.Gly607Val) c.1697G>T (p.Gly566Val) c.1817G>T (p.Gly606Val) c.*156G>T (n.*156G>T) c.*1209G>T (n.*1209G>T) n.2066G>T n.2214G>T c.962G>T (p.Gly321Val) c.1451G>T (p.Gly484Val) n.2798G>T | |
1 | g.11791262C= | CA1139925369 | MTHFR | c.1820G= (p.Gly607=) c.1697G= (p.Gly566=) c.1817G= (p.Gly606=) c.*156G= (n.*156G=) c.*1209G= (n.*1209G=) n.2066G= n.2214G= c.962G= (p.Gly321=) c.1451G= (p.Gly484=) n.2798G= | |
1 | g.11791262C>G | CA338474463 | MTHFR | c.1820G>C (p.Gly607Ala) c.1697G>C (p.Gly566Ala) c.1817G>C (p.Gly606Ala) c.*156G>C (n.*156G>C) c.*1209G>C (n.*1209G>C) n.2066G>C n.2214G>C c.962G>C (p.Gly321Ala) c.1451G>C (p.Gly484Ala) n.2798G>C | |
1 | g.11791262C>T | CA17999276 | MTHFR | c.1820G>A (p.Gly607Glu) c.1697G>A (p.Gly566Glu) c.1817G>A (p.Gly606Glu) c.*156G>A (n.*156G>A) c.*1209G>A (n.*1209G>A) n.2066G>A n.2214G>A c.962G>A (p.Gly321Glu) c.1451G>A (p.Gly484Glu) n.2798G>A | dbSNP |
1 | g.11791263C>A | CA338474464 | MTHFR | c.1819G>T (p.Gly607Trp) c.1696G>T (p.Gly566Trp) c.1816G>T (p.Gly606Trp) c.*155G>T (n.*155G>T) c.*1208G>T (n.*1208G>T) n.2065G>T n.2213G>T c.961G>T (p.Gly321Trp) c.1450G>T (p.Gly484Trp) n.2797G>T | gnomAD v4 |
1 | g.11791263C>G | CA338474465 | MTHFR | c.1819G>C (p.Gly607Arg) c.1696G>C (p.Gly566Arg) c.1816G>C (p.Gly606Arg) c.*155G>C (n.*155G>C) c.*1208G>C (n.*1208G>C) n.2065G>C n.2213G>C c.961G>C (p.Gly321Arg) c.1450G>C (p.Gly484Arg) n.2797G>C | |
1 | g.11791263C>T | CA338474467 | MTHFR | c.1819G>A (p.Gly607Arg) c.1696G>A (p.Gly566Arg) c.1816G>A (p.Gly606Arg) c.*155G>A (n.*155G>A) c.*1208G>A (n.*1208G>A) n.2065G>A n.2213G>A c.961G>A (p.Gly321Arg) c.1450G>A (p.Gly484Arg) n.2797G>A | |
1 | g.11791264A>C | CA416119858 | MTHFR | c.1818T>G (p.Pro606=) c.1695T>G (p.Pro565=) c.1815T>G (p.Pro605=) c.*154T>G (n.*154T>G) c.*1207T>G (n.*1207T>G) n.2064T>G n.2212T>G c.960T>G (p.Pro320=) c.1449T>G (p.Pro483=) n.2796T>G | |
1 | g.11791264A>G | CA416119859 | MTHFR | c.1818T>C (p.Pro606=) c.1695T>C (p.Pro565=) c.1815T>C (p.Pro605=) c.*154T>C (n.*154T>C) c.*1207T>C (n.*1207T>C) n.2064T>C n.2212T>C c.960T>C (p.Pro320=) c.1449T>C (p.Pro483=) n.2796T>C | |
1 | g.11791264A>T | CA416119860 | MTHFR | c.1818T>A (p.Pro606=) c.1695T>A (p.Pro565=) c.1815T>A (p.Pro605=) c.*154T>A (n.*154T>A) c.*1207T>A (n.*1207T>A) n.2064T>A n.2212T>A c.960T>A (p.Pro320=) c.1449T>A (p.Pro483=) n.2796T>A | |
1 | g.11791265G>A | CA338474469 | MTHFR | c.1817C>T (p.Pro606Leu) c.1694C>T (p.Pro565Leu) c.1814C>T (p.Pro605Leu) c.*153C>T (n.*153C>T) c.*1206C>T (n.*1206C>T) n.2063C>T n.2211C>T c.959C>T (p.Pro320Leu) c.1448C>T (p.Pro483Leu) n.2795C>T | COSMIC COSMIC |
1 | g.11791265G>C | CA338474471 | MTHFR | c.1817C>G (p.Pro606Arg) c.1694C>G (p.Pro565Arg) c.1814C>G (p.Pro605Arg) c.*153C>G (n.*153C>G) c.*1206C>G (n.*1206C>G) n.2063C>G n.2211C>G c.959C>G (p.Pro320Arg) c.1448C>G (p.Pro483Arg) n.2795C>G | |
1 | g.11791265G>T | CA338474472 | MTHFR | c.1817C>A (p.Pro606His) c.1694C>A (p.Pro565His) c.1814C>A (p.Pro605His) c.*153C>A (n.*153C>A) c.*1206C>A (n.*1206C>A) n.2063C>A n.2211C>A c.959C>A (p.Pro320His) c.1448C>A (p.Pro483His) n.2795C>A | |
1 | g.11791266G>A | CA338474474 | MTHFR | c.1816C>T (p.Pro606Ser) c.1693C>T (p.Pro565Ser) c.1813C>T (p.Pro605Ser) c.*152C>T (n.*152C>T) c.*1205C>T (n.*1205C>T) n.2062C>T n.2210C>T c.958C>T (p.Pro320Ser) c.1447C>T (p.Pro483Ser) n.2794C>T | dbSNP |
1 | g.11791266G>C | CA338474476 | MTHFR | c.1816C>G (p.Pro606Ala) c.1693C>G (p.Pro565Ala) c.1813C>G (p.Pro605Ala) c.*152C>G (n.*152C>G) c.*1205C>G (n.*1205C>G) n.2062C>G n.2210C>G c.958C>G (p.Pro320Ala) c.1447C>G (p.Pro483Ala) n.2794C>G | |
1 | g.11791266G= | CA1153792586 | MTHFR | c.1816C= (p.Pro606=) c.1693C= (p.Pro565=) c.1813C= (p.Pro605=) c.*152C= (n.*152C=) c.*1205C= (n.*1205C=) n.2062C= n.2210C= c.958C= (p.Pro320=) c.1447C= (p.Pro483=) n.2794C= | |
1 | g.11791266G>T | CA338474478 | MTHFR | c.1816C>A (p.Pro606Thr) c.1693C>A (p.Pro565Thr) c.1813C>A (p.Pro605Thr) c.*152C>A (n.*152C>A) c.*1205C>A (n.*1205C>A) n.2062C>A n.2210C>A c.958C>A (p.Pro320Thr) c.1447C>A (p.Pro483Thr) n.2794C>A | |
1 | g.11791267G>A | CA595249 | MTHFR | c.1815C>T (p.Phe605=) c.1692C>T (p.Phe564=) c.1812C>T (p.Phe604=) c.*151C>T (n.*151C>T) c.*1204C>T (n.*1204C>T) n.2061C>T n.2209C>T c.957C>T (p.Phe319=) c.1446C>T (p.Phe482=) n.2793C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11791267G>C | CA338474480 | MTHFR | c.1815C>G (p.Phe605Leu) c.1692C>G (p.Phe564Leu) c.1812C>G (p.Phe604Leu) c.*151C>G (n.*151C>G) c.*1204C>G (n.*1204C>G) n.2061C>G n.2209C>G c.957C>G (p.Phe319Leu) c.1446C>G (p.Phe482Leu) n.2793C>G | gnomAD v4 |
1 | g.11791267G= | CA1153792629 | MTHFR | c.1815C= (p.Phe605=) c.1692C= (p.Phe564=) c.1812C= (p.Phe604=) c.*151C= (n.*151C=) c.*1204C= (n.*1204C=) n.2061C= n.2209C= c.957C= (p.Phe319=) c.1446C= (p.Phe482=) n.2793C= | |
1 | g.11791267G>T | CA338474482 | MTHFR | c.1815C>A (p.Phe605Leu) c.1692C>A (p.Phe564Leu) c.1812C>A (p.Phe604Leu) c.*151C>A (n.*151C>A) c.*1204C>A (n.*1204C>A) n.2061C>A n.2209C>A c.957C>A (p.Phe319Leu) c.1446C>A (p.Phe482Leu) n.2793C>A | |
1 | g.11791267_11791268insTTT | CA2573130472 | MTHFR | c.1814_1815insAAA (p.Phe605delinsLeuAsn) c.1691_1692insAAA (p.Phe564delinsLeuAsn) c.1811_1812insAAA (p.Phe604delinsLeuAsn) c.*150_*151insAAA (n.*150_*151insAAA) c.*1203_*1204insAAA (n.*1203_*1204insAAA) n.2060_2061insAAA n.2208_2209insAAA c.956_957insAAA (p.Phe319delinsLeuAsn) c.1445_1446insAAA (p.Phe482delinsLeuAsn) n.2792_2793insAAA | dbSNP |
1 | g.11791268A>C | CA338474487 | MTHFR | c.1814T>G (p.Phe605Cys) c.1691T>G (p.Phe564Cys) c.1811T>G (p.Phe604Cys) c.*150T>G (n.*150T>G) c.*1203T>G (n.*1203T>G) n.2060T>G n.2208T>G c.956T>G (p.Phe319Cys) c.1445T>G (p.Phe482Cys) n.2792T>G | |
1 | g.11791268A>G | CA338474484 | MTHFR | c.1814T>C (p.Phe605Ser) c.1691T>C (p.Phe564Ser) c.1811T>C (p.Phe604Ser) c.*150T>C (n.*150T>C) c.*1203T>C (n.*1203T>C) n.2060T>C n.2208T>C c.956T>C (p.Phe319Ser) c.1445T>C (p.Phe482Ser) n.2792T>C | |
1 | g.11791268A>T | CA338474486 | MTHFR | c.1814T>A (p.Phe605Tyr) c.1691T>A (p.Phe564Tyr) c.1811T>A (p.Phe604Tyr) c.*150T>A (n.*150T>A) c.*1203T>A (n.*1203T>A) n.2060T>A n.2208T>A c.956T>A (p.Phe319Tyr) c.1445T>A (p.Phe482Tyr) n.2792T>A | |
1 | g.11791269A>C | CA338474489 | MTHFR | c.1813T>G (p.Phe605Val) c.1690T>G (p.Phe564Val) c.1810T>G (p.Phe604Val) c.*149T>G (n.*149T>G) c.*1202T>G (n.*1202T>G) n.2059T>G n.2207T>G c.955T>G (p.Phe319Val) c.1444T>G (p.Phe482Val) n.2791T>G | |
1 | g.11791269A>G | CA338474491 | MTHFR | c.1813T>C (p.Phe605Leu) c.1690T>C (p.Phe564Leu) c.1810T>C (p.Phe604Leu) c.*149T>C (n.*149T>C) c.*1202T>C (n.*1202T>C) n.2059T>C n.2207T>C c.955T>C (p.Phe319Leu) c.1444T>C (p.Phe482Leu) n.2791T>C | ClinVar gnomAD v4 |
1 | g.11791269A>T | CA338474492 | MTHFR | c.1813T>A (p.Phe605Ile) c.1690T>A (p.Phe564Ile) c.1810T>A (p.Phe604Ile) c.*149T>A (n.*149T>A) c.*1202T>A (n.*1202T>A) n.2059T>A n.2207T>A c.955T>A (p.Phe319Ile) c.1444T>A (p.Phe482Ile) n.2791T>A | |
1 | g.11791270G>A | CA416119861 | MTHFR | c.1812C>T (p.Ile604=) c.1689C>T (p.Ile563=) c.1809C>T (p.Ile603=) c.*148C>T (n.*148C>T) c.*1201C>T (n.*1201C>T) n.2058C>T n.2206C>T c.954C>T (p.Ile318=) c.1443C>T (p.Ile481=) n.2790C>T | |
1 | g.11791270G>C | CA338474493 | MTHFR | c.1812C>G (p.Ile604Met) c.1689C>G (p.Ile563Met) c.1809C>G (p.Ile603Met) c.*148C>G (n.*148C>G) c.*1201C>G (n.*1201C>G) n.2058C>G n.2206C>G c.954C>G (p.Ile318Met) c.1443C>G (p.Ile481Met) n.2790C>G | |
1 | g.11791270G>T | CA416119862 | MTHFR | c.1812C>A (p.Ile604=) c.1689C>A (p.Ile563=) c.1809C>A (p.Ile603=) c.*148C>A (n.*148C>A) c.*1201C>A (n.*1201C>A) n.2058C>A n.2206C>A c.954C>A (p.Ile318=) c.1443C>A (p.Ile481=) n.2790C>A | |
1 | g.11791271A= | CA1153792643 | MTHFR | c.1811T= (p.Ile604=) c.1688T= (p.Ile563=) c.1808T= (p.Ile603=) c.*147T= (n.*147T=) c.*1200T= (n.*1200T=) n.2057T= n.2205T= c.953T= (p.Ile318=) c.1442T= (p.Ile481=) n.2789T= | |
1 | g.11791271A>C | CA338474495 | MTHFR | c.1811T>G (p.Ile604Ser) c.1688T>G (p.Ile563Ser) c.1808T>G (p.Ile603Ser) c.*147T>G (n.*147T>G) c.*1200T>G (n.*1200T>G) n.2057T>G n.2205T>G c.953T>G (p.Ile318Ser) c.1442T>G (p.Ile481Ser) n.2789T>G | |
1 | g.11791271A>G | CA338474497 | MTHFR | c.1811T>C (p.Ile604Thr) c.1688T>C (p.Ile563Thr) c.1808T>C (p.Ile603Thr) c.*147T>C (n.*147T>C) c.*1200T>C (n.*1200T>C) n.2057T>C n.2205T>C c.953T>C (p.Ile318Thr) c.1442T>C (p.Ile481Thr) n.2789T>C | dbSNP |
1 | g.11791271A>T | CA338474498 | MTHFR | c.1811T>A (p.Ile604Asn) c.1688T>A (p.Ile563Asn) c.1808T>A (p.Ile603Asn) c.*147T>A (n.*147T>A) c.*1200T>A (n.*1200T>A) n.2057T>A n.2205T>A c.953T>A (p.Ile318Asn) c.1442T>A (p.Ile481Asn) n.2789T>A | |
1 | g.11791272T>A | CA338474500 | MTHFR | c.1810A>T (p.Ile604Phe) c.1687A>T (p.Ile563Phe) c.1807A>T (p.Ile603Phe) c.*146A>T (n.*146A>T) c.*1199A>T (n.*1199A>T) n.2056A>T n.2204A>T c.952A>T (p.Ile318Phe) c.1441A>T (p.Ile481Phe) n.2788A>T | |
1 | g.11791272T>C | CA338474502 | MTHFR | c.1810A>G (p.Ile604Val) c.1687A>G (p.Ile563Val) c.1807A>G (p.Ile603Val) c.*146A>G (n.*146A>G) c.*1199A>G (n.*1199A>G) n.2056A>G n.2204A>G c.952A>G (p.Ile318Val) c.1441A>G (p.Ile481Val) n.2788A>G | gnomAD v4 |
1 | g.11791272T>G | CA338474504 | MTHFR | c.1810A>C (p.Ile604Leu) c.1687A>C (p.Ile563Leu) c.1807A>C (p.Ile603Leu) c.*146A>C (n.*146A>C) c.*1199A>C (n.*1199A>C) n.2056A>C n.2204A>C c.952A>C (p.Ile318Leu) c.1441A>C (p.Ile481Leu) n.2788A>C | |
1 | g.11791273G>A | CA595250 | MTHFR | c.1809C>T (p.Gly603=) c.1686C>T (p.Gly562=) c.1806C>T (p.Gly602=) c.*145C>T (n.*145C>T) c.*1198C>T (n.*1198C>T) n.2055C>T n.2203C>T c.951C>T (p.Gly317=) c.1440C>T (p.Gly480=) n.2787C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11791273G>C | CA416119863 | MTHFR | c.1809C>G (p.Gly603=) c.1686C>G (p.Gly562=) c.1806C>G (p.Gly602=) c.*145C>G (n.*145C>G) c.*1198C>G (n.*1198C>G) n.2055C>G n.2203C>G c.951C>G (p.Gly317=) c.1440C>G (p.Gly480=) n.2787C>G | |
1 | g.11791273G= | CA1153792650 | MTHFR | c.1809C= (p.Gly603=) c.1686C= (p.Gly562=) c.1806C= (p.Gly602=) c.*145C= (n.*145C=) c.*1198C= (n.*1198C=) n.2055C= n.2203C= c.951C= (p.Gly317=) c.1440C= (p.Gly480=) n.2787C= | |
1 | g.11791273G>T | CA416119864 | MTHFR | c.1809C>A (p.Gly603=) c.1686C>A (p.Gly562=) c.1806C>A (p.Gly602=) c.*145C>A (n.*145C>A) c.*1198C>A (n.*1198C>A) n.2055C>A n.2203C>A c.951C>A (p.Gly317=) c.1440C>A (p.Gly480=) n.2787C>A | |
1 | g.11791274C>A | CA338474506 | MTHFR | c.1808G>T (p.Gly603Val) c.1685G>T (p.Gly562Val) c.1805G>T (p.Gly602Val) c.*144G>T (n.*144G>T) c.*1197G>T (n.*1197G>T) n.2054G>T n.2202G>T c.950G>T (p.Gly317Val) c.1439G>T (p.Gly480Val) n.2786G>T | |
1 | g.11791274C= | CA1153792658 | MTHFR | c.1808G= (p.Gly603=) c.1685G= (p.Gly562=) c.1805G= (p.Gly602=) c.*144G= (n.*144G=) c.*1197G= (n.*1197G=) n.2054G= n.2202G= c.950G= (p.Gly317=) c.1439G= (p.Gly480=) n.2786G= | |
1 | g.11791274C>G | CA338474508 | MTHFR | c.1808G>C (p.Gly603Ala) c.1685G>C (p.Gly562Ala) c.1805G>C (p.Gly602Ala) c.*144G>C (n.*144G>C) c.*1197G>C (n.*1197G>C) n.2054G>C n.2202G>C c.950G>C (p.Gly317Ala) c.1439G>C (p.Gly480Ala) n.2786G>C | dbSNP |
1 | g.11791274C>T | CA338474505 | MTHFR | c.1808G>A (p.Gly603Asp) c.1685G>A (p.Gly562Asp) c.1805G>A (p.Gly602Asp) c.*144G>A (n.*144G>A) c.*1197G>A (n.*1197G>A) n.2054G>A n.2202G>A c.950G>A (p.Gly317Asp) c.1439G>A (p.Gly480Asp) n.2786G>A | ClinVar dbSNP gnomAD v4 |
1 | g.11791275C>A | CA338474513 | MTHFR | c.1807G>T (p.Gly603Cys) c.1684G>T (p.Gly562Cys) c.1804G>T (p.Gly602Cys) c.*143G>T (n.*143G>T) c.*1196G>T (n.*1196G>T) n.2053G>T n.2201G>T c.949G>T (p.Gly317Cys) c.1438G>T (p.Gly480Cys) n.2785G>T | |
1 | g.11791275C>G | CA338474511 | MTHFR | c.1807G>C (p.Gly603Arg) c.1684G>C (p.Gly562Arg) c.1804G>C (p.Gly602Arg) c.*143G>C (n.*143G>C) c.*1196G>C (n.*1196G>C) n.2053G>C n.2201G>C c.949G>C (p.Gly317Arg) c.1438G>C (p.Gly480Arg) n.2785G>C | |
1 | g.11791275C>T | CA338474512 | MTHFR | c.1807G>A (p.Gly603Ser) c.1684G>A (p.Gly562Ser) c.1804G>A (p.Gly602Ser) c.*143G>A (n.*143G>A) c.*1196G>A (n.*1196G>A) n.2053G>A n.2201G>A c.949G>A (p.Gly317Ser) c.1438G>A (p.Gly480Ser) n.2785G>A | |
1 | g.11791276C>A | CA338474515 | MTHFR | c.1806G>T (p.Trp602Cys) c.1683G>T (p.Trp561Cys) c.1803G>T (p.Trp601Cys) c.*142G>T (n.*142G>T) c.*1195G>T (n.*1195G>T) n.2052G>T n.2200G>T c.948G>T (p.Trp316Cys) c.1437G>T (p.Trp479Cys) n.2784G>T | |
1 | g.11791276C= | CA1153792669 | MTHFR | c.1806G= (p.Trp602=) c.1683G= (p.Trp561=) c.1803G= (p.Trp601=) c.*142G= (n.*142G=) c.*1195G= (n.*1195G=) n.2052G= n.2200G= c.948G= (p.Trp316=) c.1437G= (p.Trp479=) n.2784G= | |
1 | g.11791276C>G | CA338474517 | MTHFR | c.1806G>C (p.Trp602Cys) c.1683G>C (p.Trp561Cys) c.1803G>C (p.Trp601Cys) c.*142G>C (n.*142G>C) c.*1195G>C (n.*1195G>C) n.2052G>C n.2200G>C c.948G>C (p.Trp316Cys) c.1437G>C (p.Trp479Cys) n.2784G>C | |
1 | g.11791276C>T | CA198644 | MTHFR | c.1806G>A (p.Trp602Ter) c.1683G>A (p.Trp561Ter) c.1803G>A (p.Trp601Ter) c.*142G>A (n.*142G>A) c.*1195G>A (n.*1195G>A) n.2052G>A n.2200G>A c.948G>A (p.Trp316Ter) c.1437G>A (p.Trp479Ter) n.2784G>A | ClinVar dbSNP |
1 | g.11791277C>A | CA338474521 | MTHFR | c.1805G>T (p.Trp602Leu) c.1682G>T (p.Trp561Leu) c.1802G>T (p.Trp601Leu) c.*141G>T (n.*141G>T) c.*1194G>T (n.*1194G>T) n.2051G>T n.2199G>T c.947G>T (p.Trp316Leu) c.1436G>T (p.Trp479Leu) n.2783G>T | |
1 | g.11791277C>G | CA338474522 | MTHFR | c.1805G>C (p.Trp602Ser) c.1682G>C (p.Trp561Ser) c.1802G>C (p.Trp601Ser) c.*141G>C (n.*141G>C) c.*1194G>C (n.*1194G>C) n.2051G>C n.2199G>C c.947G>C (p.Trp316Ser) c.1436G>C (p.Trp479Ser) n.2783G>C | |
1 | g.11791277C>T | CA338474523 | MTHFR | c.1805G>A (p.Trp602Ter) c.1682G>A (p.Trp561Ter) c.1802G>A (p.Trp601Ter) c.*141G>A (n.*141G>A) c.*1194G>A (n.*1194G>A) n.2051G>A n.2199G>A c.947G>A (p.Trp316Ter) c.1436G>A (p.Trp479Ter) n.2783G>A | ClinVar |
1 | g.11791278A>C | CA338474525 | MTHFR | c.1804T>G (p.Trp602Gly) c.1681T>G (p.Trp561Gly) c.1801T>G (p.Trp601Gly) c.*140T>G (n.*140T>G) c.*1193T>G (n.*1193T>G) n.2050T>G n.2198T>G c.946T>G (p.Trp316Gly) c.1435T>G (p.Trp479Gly) n.2782T>G | |
1 | g.11791278A>G | CA338474527 | MTHFR | c.1804T>C (p.Trp602Arg) c.1681T>C (p.Trp561Arg) c.1801T>C (p.Trp601Arg) c.*140T>C (n.*140T>C) c.*1193T>C (n.*1193T>C) n.2050T>C n.2198T>C c.946T>C (p.Trp316Arg) c.1435T>C (p.Trp479Arg) n.2782T>C | |
1 | g.11791278A>T | CA338474528 | MTHFR | c.1804T>A (p.Trp602Arg) c.1681T>A (p.Trp561Arg) c.1801T>A (p.Trp601Arg) c.*140T>A (n.*140T>A) c.*1193T>A (n.*1193T>A) n.2050T>A n.2198T>A c.946T>A (p.Trp316Arg) c.1435T>A (p.Trp479Arg) n.2782T>A | |
1 | g.11791279A= | CA1153792675 | MTHFR | c.1803T= (p.Thr601=) c.1680T= (p.Thr560=) c.1800T= (p.Thr600=) c.*139T= (n.*139T=) c.*1192T= (n.*1192T=) n.2049T= n.2197T= c.945T= (p.Thr315=) c.1434T= (p.Thr478=) n.2781T= | |
1 | g.11791279A>C | CA416119865 | MTHFR | c.1803T>G (p.Thr601=) c.1680T>G (p.Thr560=) c.1800T>G (p.Thr600=) c.*139T>G (n.*139T>G) c.*1192T>G (n.*1192T>G) n.2049T>G n.2197T>G c.945T>G (p.Thr315=) c.1434T>G (p.Thr478=) n.2781T>G | gnomAD v4 |
1 | g.11791279A>G | CA416119866 | MTHFR | c.1803T>C (p.Thr601=) c.1680T>C (p.Thr560=) c.1800T>C (p.Thr600=) c.*139T>C (n.*139T>C) c.*1192T>C (n.*1192T>C) n.2049T>C n.2197T>C c.945T>C (p.Thr315=) c.1434T>C (p.Thr478=) n.2781T>C | ClinVar dbSNP gnomAD v4 |
1 | g.11791279A>T | CA416119867 | MTHFR | c.1803T>A (p.Thr601=) c.1680T>A (p.Thr560=) c.1800T>A (p.Thr600=) c.*139T>A (n.*139T>A) c.*1192T>A (n.*1192T>A) n.2049T>A n.2197T>A c.945T>A (p.Thr315=) c.1434T>A (p.Thr478=) n.2781T>A | |
1 | g.11791280G>A | CA338474533 | MTHFR | c.1802C>T (p.Thr601Ile) c.1679C>T (p.Thr560Ile) c.1799C>T (p.Thr600Ile) c.*138C>T (n.*138C>T) c.*1191C>T (n.*1191C>T) n.2048C>T n.2196C>T c.944C>T (p.Thr315Ile) c.1433C>T (p.Thr478Ile) n.2780C>T | |
1 | g.11791280G>C | CA338474531 | MTHFR | c.1802C>G (p.Thr601Ser) c.1679C>G (p.Thr560Ser) c.1799C>G (p.Thr600Ser) c.*138C>G (n.*138C>G) c.*1191C>G (n.*1191C>G) n.2048C>G n.2196C>G c.944C>G (p.Thr315Ser) c.1433C>G (p.Thr478Ser) n.2780C>G | |
1 | g.11791280G>T | CA338474530 | MTHFR | c.1802C>A (p.Thr601Asn) c.1679C>A (p.Thr560Asn) c.1799C>A (p.Thr600Asn) c.*138C>A (n.*138C>A) c.*1191C>A (n.*1191C>A) n.2048C>A n.2196C>A c.944C>A (p.Thr315Asn) c.1433C>A (p.Thr478Asn) n.2780C>A | |
1 | g.11791281T>A | CA338474535 | MTHFR | c.1801A>T (p.Thr601Ser) c.1678A>T (p.Thr560Ser) c.1798A>T (p.Thr600Ser) c.*137A>T (n.*137A>T) c.*1190A>T (n.*1190A>T) n.2047A>T n.2195A>T c.943A>T (p.Thr315Ser) c.1432A>T (p.Thr478Ser) n.2779A>T | |
1 | g.11791281T>C | CA338474537 | MTHFR | c.1801A>G (p.Thr601Ala) c.1678A>G (p.Thr560Ala) c.1798A>G (p.Thr600Ala) c.*137A>G (n.*137A>G) c.*1190A>G (n.*1190A>G) n.2047A>G n.2195A>G c.943A>G (p.Thr315Ala) c.1432A>G (p.Thr478Ala) n.2779A>G | |
1 | g.11791281T>G | CA338474538 | MTHFR | c.1801A>C (p.Thr601Pro) c.1678A>C (p.Thr560Pro) c.1798A>C (p.Thr600Pro) c.*137A>C (n.*137A>C) c.*1190A>C (n.*1190A>C) n.2047A>C n.2195A>C c.943A>C (p.Thr315Pro) c.1432A>C (p.Thr478Pro) n.2779A>C | gnomAD v4 |
1 | g.11791282G>A | CA595251 | MTHFR | c.1800C>T (p.Val600=) c.1677C>T (p.Val559=) c.1797C>T (p.Val599=) c.*136C>T (n.*136C>T) c.*1189C>T (n.*1189C>T) n.2046C>T n.2194C>T c.942C>T (p.Val314=) c.1431C>T (p.Val477=) n.2778C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11791282G>C | CA416119868 | MTHFR | c.1800C>G (p.Val600=) c.1677C>G (p.Val559=) c.1797C>G (p.Val599=) c.*136C>G (n.*136C>G) c.*1189C>G (n.*1189C>G) n.2046C>G n.2194C>G c.942C>G (p.Val314=) c.1431C>G (p.Val477=) n.2778C>G | |
1 | g.11791282G= | CA1153792680 | MTHFR | c.1800C= (p.Val600=) c.1677C= (p.Val559=) c.1797C= (p.Val599=) c.*136C= (n.*136C=) c.*1189C= (n.*1189C=) n.2046C= n.2194C= c.942C= (p.Val314=) c.1431C= (p.Val477=) n.2778C= | |
1 | g.11791282G>T | CA416119869 | MTHFR | c.1800C>A (p.Val600=) c.1677C>A (p.Val559=) c.1797C>A (p.Val599=) c.*136C>A (n.*136C>A) c.*1189C>A (n.*1189C>A) n.2046C>A n.2194C>A c.942C>A (p.Val314=) c.1431C>A (p.Val477=) n.2778C>A | gnomAD v4 |
1 | g.11791283A>C | CA338474541 | MTHFR | c.1799T>G (p.Val600Gly) c.1676T>G (p.Val559Gly) c.1796T>G (p.Val599Gly) c.*135T>G (n.*135T>G) c.*1188T>G (n.*1188T>G) n.2045T>G n.2193T>G c.941T>G (p.Val314Gly) c.1430T>G (p.Val477Gly) n.2777T>G | |
1 | g.11791283A>G | CA338474543 | MTHFR | c.1799T>C (p.Val600Ala) c.1676T>C (p.Val559Ala) c.1796T>C (p.Val599Ala) c.*135T>C (n.*135T>C) c.*1188T>C (n.*1188T>C) n.2045T>C n.2193T>C c.941T>C (p.Val314Ala) c.1430T>C (p.Val477Ala) n.2777T>C | |
1 | g.11791283A>T | CA338474545 | MTHFR | c.1799T>A (p.Val600Asp) c.1676T>A (p.Val559Asp) c.1796T>A (p.Val599Asp) c.*135T>A (n.*135T>A) c.*1188T>A (n.*1188T>A) n.2045T>A n.2193T>A c.941T>A (p.Val314Asp) c.1430T>A (p.Val477Asp) n.2777T>A | |
1 | g.11791284C>A | CA338474547 | MTHFR | c.1798G>T (p.Val600Phe) c.1675G>T (p.Val559Phe) c.1795G>T (p.Val599Phe) c.*134G>T (n.*134G>T) c.*1187G>T (n.*1187G>T) n.2044G>T n.2192G>T c.940G>T (p.Val314Phe) c.1429G>T (p.Val477Phe) n.2776G>T | |
1 | g.11791284C>G | CA338474549 | MTHFR | c.1798G>C (p.Val600Leu) c.1675G>C (p.Val559Leu) c.1795G>C (p.Val599Leu) c.*134G>C (n.*134G>C) c.*1187G>C (n.*1187G>C) n.2044G>C n.2192G>C c.940G>C (p.Val314Leu) c.1429G>C (p.Val477Leu) n.2776G>C | |
1 | g.11791284C>T | CA338474551 | MTHFR | c.1798G>A (p.Val600Ile) c.1675G>A (p.Val559Ile) c.1795G>A (p.Val599Ile) c.*134G>A (n.*134G>A) c.*1187G>A (n.*1187G>A) n.2044G>A n.2192G>A c.940G>A (p.Val314Ile) c.1429G>A (p.Val477Ile) n.2776G>A | gnomAD v4 |
1 | g.11791285A= | CA1153792697 | MTHFR | c.1797T= (p.Ala599=) c.1674T= (p.Ala558=) c.1794T= (p.Ala598=) c.*133T= (n.*133T=) c.*1186T= (n.*1186T=) n.2043T= n.2191T= c.939T= (p.Ala313=) c.1428T= (p.Ala476=) n.2775T= | |
1 | g.11791285A>C | CA416119870 | MTHFR | c.1797T>G (p.Ala599=) c.1674T>G (p.Ala558=) c.1794T>G (p.Ala598=) c.*133T>G (n.*133T>G) c.*1186T>G (n.*1186T>G) n.2043T>G n.2191T>G c.939T>G (p.Ala313=) c.1428T>G (p.Ala476=) n.2775T>G | |
1 | g.11791285A>G | CA17999289 | MTHFR | c.1797T>C (p.Ala599=) c.1674T>C (p.Ala558=) c.1794T>C (p.Ala598=) c.*133T>C (n.*133T>C) c.*1186T>C (n.*1186T>C) n.2043T>C n.2191T>C c.939T>C (p.Ala313=) c.1428T>C (p.Ala476=) n.2775T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.11791285A>T | CA416119871 | MTHFR | c.1797T>A (p.Ala599=) c.1674T>A (p.Ala558=) c.1794T>A (p.Ala598=) c.*133T>A (n.*133T>A) c.*1186T>A (n.*1186T>A) n.2043T>A n.2191T>A c.939T>A (p.Ala313=) c.1428T>A (p.Ala476=) n.2775T>A | |
1 | g.11791286G>A | CA338474553 | MTHFR | c.1796C>T (p.Ala599Val) c.1673C>T (p.Ala558Val) c.1793C>T (p.Ala598Val) c.*132C>T (n.*132C>T) c.*1185C>T (n.*1185C>T) n.2042C>T n.2190C>T c.938C>T (p.Ala313Val) c.1427C>T (p.Ala476Val) n.2774C>T | |
1 | g.11791286G>C | CA338474554 | MTHFR | c.1796C>G (p.Ala599Gly) c.1673C>G (p.Ala558Gly) c.1793C>G (p.Ala598Gly) c.*132C>G (n.*132C>G) c.*1185C>G (n.*1185C>G) n.2042C>G n.2190C>G c.938C>G (p.Ala313Gly) c.1427C>G (p.Ala476Gly) n.2774C>G | |
1 | g.11791286G>T | CA338474556 | MTHFR | c.1796C>A (p.Ala599Asp) c.1673C>A (p.Ala558Asp) c.1793C>A (p.Ala598Asp) c.*132C>A (n.*132C>A) c.*1185C>A (n.*1185C>A) n.2042C>A n.2190C>A c.938C>A (p.Ala313Asp) c.1427C>A (p.Ala476Asp) n.2774C>A | |
1 | g.11791287C>A | CA338474559 | MTHFR | c.1795G>T (p.Ala599Ser) c.1672G>T (p.Ala558Ser) c.1792G>T (p.Ala598Ser) c.*131G>T (n.*131G>T) c.*1184G>T (n.*1184G>T) n.2041G>T n.2189G>T c.937G>T (p.Ala313Ser) c.1426G>T (p.Ala476Ser) n.2773G>T | |
1 | g.11791287C>G | CA338474560 | MTHFR | c.1795G>C (p.Ala599Pro) c.1672G>C (p.Ala558Pro) c.1792G>C (p.Ala598Pro) c.*131G>C (n.*131G>C) c.*1184G>C (n.*1184G>C) n.2041G>C n.2189G>C c.937G>C (p.Ala313Pro) c.1426G>C (p.Ala476Pro) n.2773G>C | |
1 | g.11791287C>T | CA338474558 | MTHFR | c.1795G>A (p.Ala599Thr) c.1672G>A (p.Ala558Thr) c.1792G>A (p.Ala598Thr) c.*131G>A (n.*131G>A) c.*1184G>A (n.*1184G>A) n.2041G>A n.2189G>A c.937G>A (p.Ala313Thr) c.1426G>A (p.Ala476Thr) n.2773G>A | |
1 | g.11791288A>C | CA338474562 | MTHFR | c.1794T>G (p.Asn598Lys) c.1671T>G (p.Asn557Lys) c.1791T>G (p.Asn597Lys) c.*130T>G (n.*130T>G) c.*1183T>G (n.*1183T>G) n.2040T>G n.2188T>G c.936T>G (p.Asn312Lys) c.1425T>G (p.Asn475Lys) n.2772T>G | |
1 | g.11791288A>G | CA416119872 | MTHFR | c.1794T>C (p.Asn598=) c.1671T>C (p.Asn557=) c.1791T>C (p.Asn597=) c.*130T>C (n.*130T>C) c.*1183T>C (n.*1183T>C) n.2040T>C n.2188T>C c.936T>C (p.Asn312=) c.1425T>C (p.Asn475=) n.2772T>C | |
1 | g.11791288A>T | CA338474565 | MTHFR | c.1794T>A (p.Asn598Lys) c.1671T>A (p.Asn557Lys) c.1791T>A (p.Asn597Lys) c.*130T>A (n.*130T>A) c.*1183T>A (n.*1183T>A) n.2040T>A n.2188T>A c.936T>A (p.Asn312Lys) c.1425T>A (p.Asn475Lys) n.2772T>A | |
1 | g.11791289T>A | CA338474567 | MTHFR | c.1793A>T (p.Asn598Ile) c.1670A>T (p.Asn557Ile) c.1790A>T (p.Asn597Ile) c.*129A>T (n.*129A>T) c.*1182A>T (n.*1182A>T) n.2039A>T n.2187A>T c.935A>T (p.Asn312Ile) c.1424A>T (p.Asn475Ile) n.2771A>T | |
1 | g.11791289T>C | CA338474569 | MTHFR | c.1793A>G (p.Asn598Ser) c.1670A>G (p.Asn557Ser) c.1790A>G (p.Asn597Ser) c.*129A>G (n.*129A>G) c.*1182A>G (n.*1182A>G) n.2039A>G n.2187A>G c.935A>G (p.Asn312Ser) c.1424A>G (p.Asn475Ser) n.2771A>G | |
1 | g.11791289T>G | CA338474570 | MTHFR | c.1793A>C (p.Asn598Thr) c.1670A>C (p.Asn557Thr) c.1790A>C (p.Asn597Thr) c.*129A>C (n.*129A>C) c.*1182A>C (n.*1182A>C) n.2039A>C n.2187A>C c.935A>C (p.Asn312Thr) c.1424A>C (p.Asn475Thr) n.2771A>C | |
1 | g.11791290T>A | CA338474571 | MTHFR | c.1792A>T (p.Asn598Tyr) c.1669A>T (p.Asn557Tyr) c.1789A>T (p.Asn597Tyr) c.*128A>T (n.*128A>T) c.*1181A>T (n.*1181A>T) n.2038A>T n.2186A>T c.934A>T (p.Asn312Tyr) c.1423A>T (p.Asn475Tyr) n.2770A>T | |
1 | g.11791290T>C | CA338474573 | MTHFR | c.1792A>G (p.Asn598Asp) c.1669A>G (p.Asn557Asp) c.1789A>G (p.Asn597Asp) c.*128A>G (n.*128A>G) c.*1181A>G (n.*1181A>G) n.2038A>G n.2186A>G c.934A>G (p.Asn312Asp) c.1423A>G (p.Asn475Asp) n.2770A>G | |
1 | g.11791290T>G | CA338474574 | MTHFR | c.1792A>C (p.Asn598His) c.1669A>C (p.Asn557His) c.1789A>C (p.Asn597His) c.*128A>C (n.*128A>C) c.*1181A>C (n.*1181A>C) n.2038A>C n.2186A>C c.934A>C (p.Asn312His) c.1423A>C (p.Asn475His) n.2770A>C | |
1 | g.11791291C>A | CA416119873 | MTHFR | c.1791G>T (p.Pro597=) c.1668G>T (p.Pro556=) c.1788G>T (p.Pro596=) c.*127G>T (n.*127G>T) c.*1180G>T (n.*1180G>T) n.2037G>T n.2185G>T c.933G>T (p.Pro311=) c.1422G>T (p.Pro474=) n.2769G>T | ClinVar dbSNP |
1 | g.11791291C= | CA1153792704 | MTHFR | c.1791G= (p.Pro597=) c.1668G= (p.Pro556=) c.1788G= (p.Pro596=) c.*127G= (n.*127G=) c.*1180G= (n.*1180G=) n.2037G= n.2185G= c.933G= (p.Pro311=) c.1422G= (p.Pro474=) n.2769G= | |
1 | g.11791291C>G | CA416119874 | MTHFR | c.1791G>C (p.Pro597=) c.1668G>C (p.Pro556=) c.1788G>C (p.Pro596=) c.*127G>C (n.*127G>C) c.*1180G>C (n.*1180G>C) n.2037G>C n.2185G>C c.933G>C (p.Pro311=) c.1422G>C (p.Pro474=) n.2769G>C | |
1 | g.11791291C>T | CA595252 | MTHFR | c.1791G>A (p.Pro597=) c.1668G>A (p.Pro556=) c.1788G>A (p.Pro596=) c.*127G>A (n.*127G>A) c.*1180G>A (n.*1180G>A) n.2037G>A n.2185G>A c.933G>A (p.Pro311=) c.1422G>A (p.Pro474=) n.2769G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.11791292G>A | CA595253 | MTHFR | c.1790C>T (p.Pro597Leu) c.1667C>T (p.Pro556Leu) c.1787C>T (p.Pro596Leu) c.*126C>T (n.*126C>T) c.*1179C>T (n.*1179C>T) n.2036C>T n.2184C>T c.932C>T (p.Pro311Leu) c.1421C>T (p.Pro474Leu) n.2768C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11791292G>C | CA338474578 | MTHFR | c.1790C>G (p.Pro597Arg) c.1667C>G (p.Pro556Arg) c.1787C>G (p.Pro596Arg) c.*126C>G (n.*126C>G) c.*1179C>G (n.*1179C>G) n.2036C>G n.2184C>G c.932C>G (p.Pro311Arg) c.1421C>G (p.Pro474Arg) n.2768C>G | |
1 | g.11791292G= | CA1148482345 | MTHFR | c.1790C= (p.Pro597=) c.1667C= (p.Pro556=) c.1787C= (p.Pro596=) c.*126C= (n.*126C=) c.*1179C= (n.*1179C=) n.2036C= n.2184C= c.932C= (p.Pro311=) c.1421C= (p.Pro474=) n.2768C= | |
1 | g.11791292G>T | CA338474580 | MTHFR | c.1790C>A (p.Pro597Gln) c.1667C>A (p.Pro556Gln) c.1787C>A (p.Pro596Gln) c.*126C>A (n.*126C>A) c.*1179C>A (n.*1179C>A) n.2036C>A n.2184C>A c.932C>A (p.Pro311Gln) c.1421C>A (p.Pro474Gln) n.2768C>A | |
1 | g.11791293G>A | CA338474584 | MTHFR | c.1789C>T (p.Pro597Ser) c.1666C>T (p.Pro556Ser) c.1786C>T (p.Pro596Ser) c.*125C>T (n.*125C>T) c.*1178C>T (n.*1178C>T) n.2035C>T n.2183C>T c.931C>T (p.Pro311Ser) c.1420C>T (p.Pro474Ser) n.2767C>T | |
1 | g.11791293G>C | CA338474586 | MTHFR | c.1789C>G (p.Pro597Ala) c.1666C>G (p.Pro556Ala) c.1786C>G (p.Pro596Ala) c.*125C>G (n.*125C>G) c.*1178C>G (n.*1178C>G) n.2035C>G n.2183C>G c.931C>G (p.Pro311Ala) c.1420C>G (p.Pro474Ala) n.2767C>G | |
1 | g.11791293G>T | CA338474583 | MTHFR | c.1789C>A (p.Pro597Thr) c.1666C>A (p.Pro556Thr) c.1786C>A (p.Pro596Thr) c.*125C>A (n.*125C>A) c.*1178C>A (n.*1178C>A) n.2035C>A n.2183C>A c.931C>A (p.Pro311Thr) c.1420C>A (p.Pro474Thr) n.2767C>A | |
1 | g.11791294C>A | CA338474588 | MTHFR | c.1788G>T (p.Gln596His) c.1665G>T (p.Gln555His) c.1785G>T (p.Gln595His) c.*124G>T (n.*124G>T) c.*1177G>T (n.*1177G>T) n.2034G>T n.2182G>T c.930G>T (p.Gln310His) c.1419G>T (p.Gln473His) n.2766G>T | |
1 | g.11791294C>G | CA338474589 | MTHFR | c.1788G>C (p.Gln596His) c.1665G>C (p.Gln555His) c.1785G>C (p.Gln595His) c.*124G>C (n.*124G>C) c.*1177G>C (n.*1177G>C) n.2034G>C n.2182G>C c.930G>C (p.Gln310His) c.1419G>C (p.Gln473His) n.2766G>C | gnomAD v4 |
1 | g.11791294C>T | CA416119875 | MTHFR | c.1788G>A (p.Gln596=) c.1665G>A (p.Gln555=) c.1785G>A (p.Gln595=) c.*124G>A (n.*124G>A) c.*1177G>A (n.*1177G>A) n.2034G>A n.2182G>A c.930G>A (p.Gln310=) c.1419G>A (p.Gln473=) n.2766G>A | |
1 | g.11791295T>A | CA338474591 | MTHFR | c.1787A>T (p.Gln596Leu) c.1664A>T (p.Gln555Leu) c.1784A>T (p.Gln595Leu) c.*123A>T (n.*123A>T) c.*1176A>T (n.*1176A>T) n.2033A>T n.2181A>T c.929A>T (p.Gln310Leu) c.1418A>T (p.Gln473Leu) n.2765A>T | |
1 | g.11791295T>C | CA338474593 | MTHFR | c.1787A>G (p.Gln596Arg) c.1664A>G (p.Gln555Arg) c.1784A>G (p.Gln595Arg) c.*123A>G (n.*123A>G) c.*1176A>G (n.*1176A>G) n.2033A>G n.2181A>G c.929A>G (p.Gln310Arg) c.1418A>G (p.Gln473Arg) n.2765A>G | |
1 | g.11791295T>G | CA338474595 | MTHFR | c.1787A>C (p.Gln596Pro) c.1664A>C (p.Gln555Pro) c.1784A>C (p.Gln595Pro) c.*123A>C (n.*123A>C) c.*1176A>C (n.*1176A>C) n.2033A>C n.2181A>C c.929A>C (p.Gln310Pro) c.1418A>C (p.Gln473Pro) n.2765A>C | |
1 | g.11791296G>A | CA338474600 | MTHFR | c.1786C>T (p.Gln596Ter) c.1663C>T (p.Gln555Ter) c.1783C>T (p.Gln595Ter) c.*122C>T (n.*122C>T) c.*1175C>T (n.*1175C>T) n.2032C>T n.2180C>T c.928C>T (p.Gln310Ter) c.1417C>T (p.Gln473Ter) n.2764C>T | ClinVar gnomAD v4 |
1 | g.11791296G>C | CA338474598 | MTHFR | c.1786C>G (p.Gln596Glu) c.1663C>G (p.Gln555Glu) c.1783C>G (p.Gln595Glu) c.*122C>G (n.*122C>G) c.*1175C>G (n.*1175C>G) n.2032C>G n.2180C>G c.928C>G (p.Gln310Glu) c.1417C>G (p.Gln473Glu) n.2764C>G | |
1 | g.11791296G>T | CA338474596 | MTHFR | c.1786C>A (p.Gln596Lys) c.1663C>A (p.Gln555Lys) c.1783C>A (p.Gln595Lys) c.*122C>A (n.*122C>A) c.*1175C>A (n.*1175C>A) n.2032C>A n.2180C>A c.928C>A (p.Gln310Lys) c.1417C>A (p.Gln473Lys) n.2764C>A | gnomAD v4 |
1 | g.11791297C>A | CA416119876 | MTHFR | c.1785G>T (p.Leu595=) c.1662G>T (p.Leu554=) c.1782G>T (p.Leu594=) c.*121G>T (n.*121G>T) c.*1174G>T (n.*1174G>T) n.2031G>T n.2179G>T c.927G>T (p.Leu309=) c.1416G>T (p.Leu472=) n.2763G>T | |
1 | g.11791297C>G | CA416119877 | MTHFR | c.1785G>C (p.Leu595=) c.1662G>C (p.Leu554=) c.1782G>C (p.Leu594=) c.*121G>C (n.*121G>C) c.*1174G>C (n.*1174G>C) n.2031G>C n.2179G>C c.927G>C (p.Leu309=) c.1416G>C (p.Leu472=) n.2763G>C | |
1 | g.11791297C>T | CA416119878 | MTHFR | c.1785G>A (p.Leu595=) c.1662G>A (p.Leu554=) c.1782G>A (p.Leu594=) c.*121G>A (n.*121G>A) c.*1174G>A (n.*1174G>A) n.2031G>A n.2179G>A c.927G>A (p.Leu309=) c.1416G>A (p.Leu472=) n.2763G>A | |
1 | g.11791298A>C | CA338474602 | MTHFR | c.1784T>G (p.Leu595Arg) c.1661T>G (p.Leu554Arg) c.1781T>G (p.Leu594Arg) c.*120T>G (n.*120T>G) c.*1173T>G (n.*1173T>G) n.2030T>G n.2178T>G c.926T>G (p.Leu309Arg) c.1415T>G (p.Leu472Arg) n.2762T>G | |
1 | g.11791298A>G | CA338474604 | MTHFR | c.1784T>C (p.Leu595Pro) c.1661T>C (p.Leu554Pro) c.1781T>C (p.Leu594Pro) c.*120T>C (n.*120T>C) c.*1173T>C (n.*1173T>C) n.2030T>C n.2178T>C c.926T>C (p.Leu309Pro) c.1415T>C (p.Leu472Pro) n.2762T>C | |
1 | g.11791298A>T | CA338474606 | MTHFR | c.1784T>A (p.Leu595Gln) c.1661T>A (p.Leu554Gln) c.1781T>A (p.Leu594Gln) c.*120T>A (n.*120T>A) c.*1173T>A (n.*1173T>A) n.2030T>A n.2178T>A c.926T>A (p.Leu309Gln) c.1415T>A (p.Leu472Gln) n.2762T>A | |
1 | g.11791299G>A | CA416119879 | MTHFR | c.1783C>T (p.Leu595=) c.1660C>T (p.Leu554=) c.1780C>T (p.Leu594=) c.*119C>T (n.*119C>T) c.*1172C>T (n.*1172C>T) n.2029C>T n.2177C>T c.925C>T (p.Leu309=) c.1414C>T (p.Leu472=) n.2761C>T | |
1 | g.11791299G>C | CA338474608 | MTHFR | c.1783C>G (p.Leu595Val) c.1660C>G (p.Leu554Val) c.1780C>G (p.Leu594Val) c.*119C>G (n.*119C>G) c.*1172C>G (n.*1172C>G) n.2029C>G n.2177C>G c.925C>G (p.Leu309Val) c.1414C>G (p.Leu472Val) n.2761C>G | |
1 | g.11791299G>T | CA338474609 | MTHFR | c.1783C>A (p.Leu595Met) c.1660C>A (p.Leu554Met) c.1780C>A (p.Leu594Met) c.*119C>A (n.*119C>A) c.*1172C>A (n.*1172C>A) n.2029C>A n.2177C>A c.925C>A (p.Leu309Met) c.1414C>A (p.Leu472Met) n.2761C>A | |
1 | g.11791300T>A | CA338474611 | MTHFR | c.1782A>T (p.Glu594Asp) c.1659A>T (p.Glu553Asp) c.1779A>T (p.Glu593Asp) c.*118A>T (n.*118A>T) c.*1171A>T (n.*1171A>T) n.2028A>T n.2176A>T c.924A>T (p.Glu308Asp) c.1413A>T (p.Glu471Asp) n.2760A>T | |
1 | g.11791300T>C | CA416119880 | MTHFR | c.1782A>G (p.Glu594=) c.1659A>G (p.Glu553=) c.1779A>G (p.Glu593=) c.*118A>G (n.*118A>G) c.*1171A>G (n.*1171A>G) n.2028A>G n.2176A>G c.924A>G (p.Glu308=) c.1413A>G (p.Glu471=) n.2760A>G | |
1 | g.11791300T>G | CA338474613 | MTHFR | c.1782A>C (p.Glu594Asp) c.1659A>C (p.Glu553Asp) c.1779A>C (p.Glu593Asp) c.*118A>C (n.*118A>C) c.*1171A>C (n.*1171A>C) n.2028A>C n.2176A>C c.924A>C (p.Glu308Asp) c.1413A>C (p.Glu471Asp) n.2760A>C | |
1 | g.11791301T>A | CA338474617 | MTHFR | c.1781A>T (p.Glu594Val) c.1658A>T (p.Glu553Val) c.1778A>T (p.Glu593Val) c.*117A>T (n.*117A>T) c.*1170A>T (n.*1170A>T) n.2027A>T n.2175A>T c.923A>T (p.Glu308Val) c.1412A>T (p.Glu471Val) n.2759A>T | gnomAD v4 |
1 | g.11791301T>C | CA338474618 | MTHFR | c.1781A>G (p.Glu594Gly) c.1658A>G (p.Glu553Gly) c.1778A>G (p.Glu593Gly) c.*117A>G (n.*117A>G) c.*1170A>G (n.*1170A>G) n.2027A>G n.2175A>G c.923A>G (p.Glu308Gly) c.1412A>G (p.Glu471Gly) n.2759A>G | |
1 | g.11791301T>G | CA338474615 | MTHFR | c.1781A>C (p.Glu594Ala) c.1658A>C (p.Glu553Ala) c.1778A>C (p.Glu593Ala) c.*117A>C (n.*117A>C) c.*1170A>C (n.*1170A>C) n.2027A>C n.2175A>C c.923A>C (p.Glu308Ala) c.1412A>C (p.Glu471Ala) n.2759A>C | |
1 | g.11791302C>A | CA338474622 | MTHFR | c.1780G>T (p.Glu594Ter) c.1657G>T (p.Glu553Ter) c.1777G>T (p.Glu593Ter) c.*116G>T (n.*116G>T) c.*1169G>T (n.*1169G>T) n.2026G>T n.2174G>T c.922G>T (p.Glu308Ter) c.1411G>T (p.Glu471Ter) n.2758G>T | ClinVar dbSNP |
1 | g.11791302C>G | CA338474620 | MTHFR | c.1780G>C (p.Glu594Gln) c.1657G>C (p.Glu553Gln) c.1777G>C (p.Glu593Gln) c.*116G>C (n.*116G>C) c.*1169G>C (n.*1169G>C) n.2026G>C n.2174G>C c.922G>C (p.Glu308Gln) c.1411G>C (p.Glu471Gln) n.2758G>C | |
1 | g.11791302C>T | CA338474624 | MTHFR | c.1780G>A (p.Glu594Lys) c.1657G>A (p.Glu553Lys) c.1777G>A (p.Glu593Lys) c.*116G>A (n.*116G>A) c.*1169G>A (n.*1169G>A) n.2026G>A n.2174G>A c.922G>A (p.Glu308Lys) c.1411G>A (p.Glu471Lys) n.2758G>A |