UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.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.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.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 |