Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.11791212A>CCA338474264MTHFRc.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
1g.11791212A>GCA338474265MTHFRc.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
1g.11791212A>TCA338474267MTHFRc.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
1g.11791213G>ACA416119787MTHFRc.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
1g.11791213G>CCA338474269MTHFRc.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
1g.11791213G>TCA338474271MTHFRc.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
1g.11791214A>CCA338474273MTHFRc.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
1g.11791214A>GCA338474274MTHFRc.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
1g.11791214A>TCA338474276MTHFRc.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
1g.11791215A>CCA338474281MTHFRc.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
1g.11791215A>GCA338474279MTHFRc.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
1g.11791215A>TCA338474277MTHFRc.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
1g.11791216C>ACA338474282MTHFRc.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
1g.11791216C=CA1140616140MTHFRc.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=
1g.11791216C>GCA338474284MTHFRc.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
1g.11791216C>TCA116323MTHFRc.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
1g.11791217A=CA1153792436MTHFRc.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=
1g.11791217A>CCA338474287MTHFRc.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
1g.11791217A>GCA595238MTHFRc.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
1g.11791217A>TCA338474291MTHFRc.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
1g.11791218T>ACA338474292MTHFRc.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
1g.11791218T>CCA595239MTHFRc.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
1g.11791218T>GCA338474294MTHFRc.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
1g.11791218T=CA1148302651MTHFRc.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=
1g.11791219G>ACA416119804MTHFRc.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
1g.11791219G>CCA338474296MTHFRc.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
1g.11791219G=CA1153792454MTHFRc.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=
1g.11791219G>TCA338474298MTHFRc.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
1g.11791219_11791220delinsGACA1153792456MTHFRc.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
1g.11791220A>CCA338474303MTHFRc.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
1g.11791220A>GCA338474305MTHFRc.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
1g.11791220A>TCA338474301MTHFRc.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
1g.11791220_11791221delinsAACA1143355037MTHFRc.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
1g.11791221delCA174515MTHFRc.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
1g.11791221A=CA1153792464MTHFRc.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=
1g.11791221A>CCA338474307MTHFRc.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
1g.11791221A>GCA595240MTHFRc.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
1g.11791221A>TCA338474310MTHFRc.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
1g.11791222G>ACA416119809MTHFRc.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
1g.11791222G>CCA338474312MTHFRc.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
1g.11791222G>TCA338474314MTHFRc.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
1g.11791223C>ACA338474316MTHFRc.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
1g.11791223C>GCA338474317MTHFRc.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
1g.11791223C>TCA338474319MTHFRc.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
1g.11791224T>ACA338474320MTHFRc.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
1g.11791224T>CCA338474322MTHFRc.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
1g.11791224T>GCA338474323MTHFRc.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
1g.11791225G>ACA416119810MTHFRc.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
1g.11791225G>CCA595241MTHFRc.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
1g.11791225G=CA1142029207MTHFRc.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=
1g.11791225G>TCA416119811MTHFRc.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
1g.11791226A=CA1153792473MTHFRc.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=
1g.11791226A>CCA338474328MTHFRc.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
1g.11791226A>GCA338474326MTHFRc.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
1g.11791226A>TCA338474324MTHFRc.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
1g.11791227C>ACA338474330MTHFRc.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
1g.11791227C=CA1153792479MTHFRc.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=
1g.11791227C>GCA338474332MTHFRc.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
1g.11791227C>TCA595242MTHFRc.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
1g.11791228G>ACA17999242MTHFRc.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
1g.11791228G>CCA416119813MTHFRc.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
1g.11791228G=CA1153792486MTHFRc.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=
1g.11791228G>TCA416119812MTHFRc.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
1g.11791229G>ACA338474335MTHFRc.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
1g.11791229G>CCA338474337MTHFRc.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
1g.11791229G>TCA338474339MTHFRc.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
1g.11791230G>ACA338474341MTHFRc.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
1g.11791230G>CCA338474342MTHFRc.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
1g.11791230G>TCA338474344MTHFRc.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
1g.11791231A>CCA338474346MTHFRc.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
1g.11791231A>GCA416119817MTHFRc.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
1g.11791231A>TCA338474348MTHFRc.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
1g.11791232T>ACA338474350MTHFRc.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
1g.11791232T>CCA338474352MTHFRc.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
1g.11791232T>GCA338474354MTHFRc.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
1g.11791233C>ACA338474357MTHFRc.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
1g.11791233C>GCA338474359MTHFRc.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
1g.11791233C>TCA338474355MTHFRc.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
1g.11791234C>ACA416119822MTHFRc.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
1g.11791234C=CA1153792500MTHFRc.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=
1g.11791234C>GCA416119823MTHFRc.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
1g.11791234C>TCA416119824MTHFRc.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
1g.11791235A=CA1153792510MTHFRc.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=
1g.11791235A>CCA198647MTHFRc.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
1g.11791235A>GCA338474361MTHFRc.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
1g.11791235A>TCA338474363MTHFRc.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
1g.11791236C>ACA338474366MTHFRc.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
1g.11791236C>GCA338474368MTHFRc.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
1g.11791236C>TCA338474369MTHFRc.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
1g.11791237T>ACA17999252MTHFRc.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
1g.11791237T>CCA416119829MTHFRc.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
1g.11791237T>GCA416119830MTHFRc.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
1g.11791237T=CA1153792514MTHFRc.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=
1g.11791238delCA10575432MTHFRc.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
1g.11791238A=CA1153792520MTHFRc.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=
1g.11791238A>CCA338474371MTHFRc.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
1g.11791238A>GCA338474373MTHFRc.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
1g.11791238A>TCA338474375MTHFRc.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
1g.11791239C>ACA338474377MTHFRc.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
1g.11791239C=CA1143529087MTHFRc.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=
1g.11791239C>GCA338474379MTHFRc.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
1g.11791239C>TCA595243MTHFRc.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
1g.11791240G>ACA595244MTHFRc.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
1g.11791240G>CCA416119832MTHFRc.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
1g.11791240G=CA1142311263MTHFRc.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=
1g.11791240G>TCA416119833MTHFRc.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
1g.11791241G>ACA338474385MTHFRc.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
1g.11791241G>CCA338474383MTHFRc.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
1g.11791241G>TCA338474384MTHFRc.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
1g.11791242T>ACA338474387MTHFRc.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
1g.11791242T>CCA338474389MTHFRc.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
1g.11791242T>GCA338474390MTHFRc.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
1g.11791242T=CA1153792550MTHFRc.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=
1g.11791243G>ACA416119836MTHFRc.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
1g.11791243G>CCA416119837MTHFRc.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
1g.11791243G>TCA416119838MTHFRc.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
1g.11791244G>ACA595245MTHFRc.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
1g.11791244G>CCA338474392MTHFRc.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
1g.11791244G=CA1141995457MTHFRc.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=
1g.11791244G>TCA338474393MTHFRc.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
1g.11791245G>ACA338474394MTHFRc.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
1g.11791245G>CCA338474395MTHFRc.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
1g.11791245G>TCA338474397MTHFRc.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
1g.11791246C>ACA338474398MTHFRc.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
1g.11791246C>GCA338474400MTHFRc.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
1g.11791246C>TCA416119844MTHFRc.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
1g.11791247delCA2573130470MTHFRc.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
1g.11791247T>ACA338474406MTHFRc.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
1g.11791247T>CCA338474404MTHFRc.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
1g.11791247T>GCA338474402MTHFRc.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
1g.11791248G>ACA338474408MTHFRc.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
1g.11791248G>CCA338474411MTHFRc.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
1g.11791248G=CA1153792558MTHFRc.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=
1g.11791248G>TCA338474410MTHFRc.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
1g.11791249G>ACA416119847MTHFRc.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
1g.11791249G>CCA338474413MTHFRc.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
1g.11791249G>TCA416119848MTHFRc.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
1g.11791250A>CCA338474415MTHFRc.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
1g.11791250A>GCA338474417MTHFRc.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
1g.11791250A>TCA338474418MTHFRc.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
1g.11791251T>ACA338474421MTHFRc.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
1g.11791251T>CCA338474423MTHFRc.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
1g.11791251T>GCA338474424MTHFRc.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
1g.11791252G>ACA416119849MTHFRc.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
1g.11791252G>CCA338474426MTHFRc.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
1g.11791252G>TCA416119850MTHFRc.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
1g.11791253A>CCA338474427MTHFRc.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
1g.11791253A>GCA338474429MTHFRc.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
1g.11791253A>TCA338474430MTHFRc.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
1g.11791254T>ACA338474431MTHFRc.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
1g.11791254T>CCA338474433MTHFRc.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
1g.11791254T>GCA338474435MTHFRc.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
1g.11791258_11791259dupCA2742479662MTHFRc.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
1g.11791255C>ACA338474437MTHFRc.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
1g.11791255C=CA1153792564MTHFRc.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=
1g.11791255C>GCA338474438MTHFRc.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
1g.11791255C>TCA416119851MTHFRc.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
1g.11791256T>ACA338474440MTHFRc.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
1g.11791256T>CCA338474442MTHFRc.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
1g.11791256T>GCA338474444MTHFRc.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
1g.11791257C>ACA338474446MTHFRc.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
1g.11791257C>GCA338474448MTHFRc.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
1g.11791257C>TCA338474449MTHFRc.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
1g.11791258T>ACA416119852MTHFRc.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
1g.11791258T>CCA595246MTHFRc.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
1g.11791258T>GCA416119853MTHFRc.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
1g.11791258T=CA1153792567MTHFRc.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=
1g.11791259C>ACA338474453MTHFRc.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
1g.11791259C=CA1153792572MTHFRc.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=
1g.11791259C>GCA338474455MTHFRc.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
1g.11791259C>TCA595247MTHFRc.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
1g.11791260G>ACA595248MTHFRc.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
1g.11791260G>CCA338474458MTHFRc.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
1g.11791260G=CA1141732445MTHFRc.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=
1g.11791260G>TCA416119854MTHFRc.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
1g.11791261C>ACA416119855MTHFRc.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
1g.11791261C>GCA416119856MTHFRc.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
1g.11791261C>TCA416119857MTHFRc.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
1g.11791262C>ACA338474461MTHFRc.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
1g.11791262C=CA1139925369MTHFRc.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=
1g.11791262C>GCA338474463MTHFRc.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
1g.11791262C>TCA17999276MTHFRc.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
1g.11791263C>ACA338474464MTHFRc.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
1g.11791263C>GCA338474465MTHFRc.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
1g.11791263C>TCA338474467MTHFRc.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
1g.11791264A>CCA416119858MTHFRc.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
1g.11791264A>GCA416119859MTHFRc.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
1g.11791264A>TCA416119860MTHFRc.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
1g.11791265G>ACA338474469MTHFRc.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
1g.11791265G>CCA338474471MTHFRc.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
1g.11791265G>TCA338474472MTHFRc.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
1g.11791266G>ACA338474474MTHFRc.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
1g.11791266G>CCA338474476MTHFRc.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
1g.11791266G=CA1153792586MTHFRc.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=
1g.11791266G>TCA338474478MTHFRc.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
1g.11791267G>ACA595249MTHFRc.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
1g.11791267G>CCA338474480MTHFRc.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
1g.11791267G=CA1153792629MTHFRc.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=
1g.11791267G>TCA338474482MTHFRc.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
1g.11791267_11791268insTTTCA2573130472MTHFRc.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
1g.11791268A>CCA338474487MTHFRc.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
1g.11791268A>GCA338474484MTHFRc.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
1g.11791268A>TCA338474486MTHFRc.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
1g.11791269A>CCA338474489MTHFRc.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
1g.11791269A>GCA338474491MTHFRc.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
1g.11791269A>TCA338474492MTHFRc.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
1g.11791270G>ACA416119861MTHFRc.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
1g.11791270G>CCA338474493MTHFRc.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
1g.11791270G>TCA416119862MTHFRc.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
1g.11791271A=CA1153792643MTHFRc.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=
1g.11791271A>CCA338474495MTHFRc.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
1g.11791271A>GCA338474497MTHFRc.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
1g.11791271A>TCA338474498MTHFRc.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
1g.11791272T>ACA338474500MTHFRc.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
1g.11791272T>CCA338474502MTHFRc.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
1g.11791272T>GCA338474504MTHFRc.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
1g.11791273G>ACA595250MTHFRc.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
1g.11791273G>CCA416119863MTHFRc.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
1g.11791273G=CA1153792650MTHFRc.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=
1g.11791273G>TCA416119864MTHFRc.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
1g.11791274C>ACA338474506MTHFRc.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
1g.11791274C=CA1153792658MTHFRc.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=
1g.11791274C>GCA338474508MTHFRc.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
1g.11791274C>TCA338474505MTHFRc.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
1g.11791275C>ACA338474513MTHFRc.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
1g.11791275C>GCA338474511MTHFRc.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
1g.11791275C>TCA338474512MTHFRc.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
1g.11791276C>ACA338474515MTHFRc.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
1g.11791276C=CA1153792669MTHFRc.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=
1g.11791276C>GCA338474517MTHFRc.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
1g.11791276C>TCA198644MTHFRc.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
1g.11791277C>ACA338474521MTHFRc.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
1g.11791277C>GCA338474522MTHFRc.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
1g.11791277C>TCA338474523MTHFRc.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
1g.11791278A>CCA338474525MTHFRc.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
1g.11791278A>GCA338474527MTHFRc.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
1g.11791278A>TCA338474528MTHFRc.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
1g.11791279A=CA1153792675MTHFRc.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=
1g.11791279A>CCA416119865MTHFRc.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
1g.11791279A>GCA416119866MTHFRc.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
1g.11791279A>TCA416119867MTHFRc.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
1g.11791280G>ACA338474533MTHFRc.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
1g.11791280G>CCA338474531MTHFRc.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
1g.11791280G>TCA338474530MTHFRc.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
1g.11791281T>ACA338474535MTHFRc.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
1g.11791281T>CCA338474537MTHFRc.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
1g.11791281T>GCA338474538MTHFRc.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
1g.11791282G>ACA595251MTHFRc.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
1g.11791282G>CCA416119868MTHFRc.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
1g.11791282G=CA1153792680MTHFRc.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=
1g.11791282G>TCA416119869MTHFRc.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
1g.11791283A>CCA338474541MTHFRc.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
1g.11791283A>GCA338474543MTHFRc.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
1g.11791283A>TCA338474545MTHFRc.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
1g.11791284C>ACA338474547MTHFRc.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
1g.11791284C>GCA338474549MTHFRc.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
1g.11791284C>TCA338474551MTHFRc.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
1g.11791285A=CA1153792697MTHFRc.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=
1g.11791285A>CCA416119870MTHFRc.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
1g.11791285A>GCA17999289MTHFRc.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
1g.11791285A>TCA416119871MTHFRc.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
1g.11791286G>ACA338474553MTHFRc.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
1g.11791286G>CCA338474554MTHFRc.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
1g.11791286G>TCA338474556MTHFRc.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
1g.11791287C>ACA338474559MTHFRc.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
1g.11791287C>GCA338474560MTHFRc.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
1g.11791287C>TCA338474558MTHFRc.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
1g.11791288A>CCA338474562MTHFRc.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
1g.11791288A>GCA416119872MTHFRc.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
1g.11791288A>TCA338474565MTHFRc.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
1g.11791289T>ACA338474567MTHFRc.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
1g.11791289T>CCA338474569MTHFRc.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
1g.11791289T>GCA338474570MTHFRc.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
1g.11791290T>ACA338474571MTHFRc.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
1g.11791290T>CCA338474573MTHFRc.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
1g.11791290T>GCA338474574MTHFRc.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
1g.11791291C>ACA416119873MTHFRc.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
1g.11791291C=CA1153792704MTHFRc.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=
1g.11791291C>GCA416119874MTHFRc.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
1g.11791291C>TCA595252MTHFRc.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
1g.11791292G>ACA595253MTHFRc.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
1g.11791292G>CCA338474578MTHFRc.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
1g.11791292G=CA1148482345MTHFRc.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=
1g.11791292G>TCA338474580MTHFRc.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
1g.11791293G>ACA338474584MTHFRc.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
1g.11791293G>CCA338474586MTHFRc.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
1g.11791293G>TCA338474583MTHFRc.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
1g.11791294C>ACA338474588MTHFRc.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
1g.11791294C>GCA338474589MTHFRc.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
1g.11791294C>TCA416119875MTHFRc.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
1g.11791295T>ACA338474591MTHFRc.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
1g.11791295T>CCA338474593MTHFRc.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
1g.11791295T>GCA338474595MTHFRc.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
1g.11791296G>ACA338474600MTHFRc.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
1g.11791296G>CCA338474598MTHFRc.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
1g.11791296G>TCA338474596MTHFRc.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
1g.11791297C>ACA416119876MTHFRc.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
1g.11791297C>GCA416119877MTHFRc.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
1g.11791297C>TCA416119878MTHFRc.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
1g.11791298A>CCA338474602MTHFRc.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
1g.11791298A>GCA338474604MTHFRc.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
1g.11791298A>TCA338474606MTHFRc.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
1g.11791299G>ACA416119879MTHFRc.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
1g.11791299G>CCA338474608MTHFRc.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
1g.11791299G>TCA338474609MTHFRc.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
1g.11791300T>ACA338474611MTHFRc.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
1g.11791300T>CCA416119880MTHFRc.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
1g.11791300T>GCA338474613MTHFRc.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
1g.11791301T>ACA338474617MTHFRc.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
1g.11791301T>CCA338474618MTHFRc.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
1g.11791301T>GCA338474615MTHFRc.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
1g.11791302C>ACA338474622MTHFRc.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
1g.11791302C>GCA338474620MTHFRc.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
1g.11791302C>TCA338474624MTHFRc.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
1g.11791303A>CCA416119881MTHFRc.1779T>G (p.Pro593=)
c.1656T>G (p.Pro552=)
c.1776T>G (p.Pro592=)
c.*115T>G (n.*115T>G)
c.*1168T>G (n.*1168T>G)
n.2025T>G
n.2173T>G
c.921T>G (p.Pro307=)
c.1410T>G (p.Pro470=)
n.2757T>G
1g.11791303A>GCA416119883MTHFRc.1779T>C (p.Pro593=)
c.1656T>C (p.Pro552=)
c.1776T>C (p.Pro592=)
c.*115T>C (n.*115T>C)
c.*1168T>C (n.*1168T>C)
n.2025T>C
n.2173T>C
c.921T>C (p.Pro307=)
c.1410T>C (p.Pro470=)
n.2757T>C
1g.11791303A>TCA416119882MTHFRc.1779T>A (p.Pro593=)
c.1656T>A (p.Pro552=)
c.1776T>A (p.Pro592=)
c.*115T>A (n.*115T>A)
c.*1168T>A (n.*1168T>A)
n.2025T>A
n.2173T>A
c.921T>A (p.Pro307=)
c.1410T>A (p.Pro470=)
n.2757T>A
1g.11791304G>ACA338474626MTHFRc.1778C>T (p.Pro593Leu)
c.1655C>T (p.Pro552Leu)
c.1775C>T (p.Pro592Leu)
c.*114C>T (n.*114C>T)
c.*1167C>T (n.*1167C>T)
n.2024C>T
n.2172C>T
c.920C>T (p.Pro307Leu)
c.1409C>T (p.Pro470Leu)
n.2756C>T
 gnomAD v4
1g.11791304G>CCA338474628MTHFRc.1778C>G (p.Pro593Arg)
c.1655C>G (p.Pro552Arg)
c.1775C>G (p.Pro592Arg)
c.*114C>G (n.*114C>G)
c.*1167C>G (n.*1167C>G)
n.2024C>G
n.2172C>G
c.920C>G (p.Pro307Arg)
c.1409C>G (p.Pro470Arg)
n.2756C>G
1g.11791304G>TCA338474630MTHFRc.1778C>A (p.Pro593His)
c.1655C>A (p.Pro552His)
c.1775C>A (p.Pro592His)
c.*114C>A (n.*114C>A)
c.*1167C>A (n.*1167C>A)
n.2024C>A
n.2172C>A
c.920C>A (p.Pro307His)
c.1409C>A (p.Pro470His)
n.2756C>A
1g.11791305G>ACA338474632MTHFRc.1777C>T (p.Pro593Ser)
c.1654C>T (p.Pro552Ser)
c.1774C>T (p.Pro592Ser)
c.*113C>T (n.*113C>T)
c.*1166C>T (n.*1166C>T)
n.2023C>T
n.2171C>T
c.919C>T (p.Pro307Ser)
c.1408C>T (p.Pro470Ser)
n.2755C>T
1g.11791305G>CCA338474633MTHFRc.1777C>G (p.Pro593Ala)
c.1654C>G (p.Pro552Ala)
c.1774C>G (p.Pro592Ala)
c.*113C>G (n.*113C>G)
c.*1166C>G (n.*1166C>G)
n.2023C>G
n.2171C>G
c.919C>G (p.Pro307Ala)
c.1408C>G (p.Pro470Ala)
n.2755C>G
1g.11791305G>TCA338474635MTHFRc.1777C>A (p.Pro593Thr)
c.1654C>A (p.Pro552Thr)
c.1774C>A (p.Pro592Thr)
c.*113C>A (n.*113C>A)
c.*1166C>A (n.*1166C>A)
n.2023C>A
n.2171C>A
c.919C>A (p.Pro307Thr)
c.1408C>A (p.Pro470Thr)
n.2755C>A
1g.11791306G>ACA416119884MTHFRc.1776C>T (p.Ala592=)
c.1653C>T (p.Ala551=)
c.1773C>T (p.Ala591=)
c.*112C>T (n.*112C>T)
c.*1165C>T (n.*1165C>T)
n.2022C>T
n.2170C>T
c.918C>T (p.Ala306=)
c.1407C>T (p.Ala469=)
n.2754C>T
 dbSNP
1g.11791306G>CCA416119885MTHFRc.1776C>G (p.Ala592=)
c.1653C>G (p.Ala551=)
c.1773C>G (p.Ala591=)
c.*112C>G (n.*112C>G)
c.*1165C>G (n.*1165C>G)
n.2022C>G
n.2170C>G
c.918C>G (p.Ala306=)
c.1407C>G (p.Ala469=)
n.2754C>G
1g.11791306G=CA1153792715MTHFRc.1776C= (p.Ala592=)
c.1653C= (p.Ala551=)
c.1773C= (p.Ala591=)
c.*112C= (n.*112C=)
c.*1165C= (n.*1165C=)
n.2022C=
n.2170C=
c.918C= (p.Ala306=)
c.1407C= (p.Ala469=)
n.2754C=
1g.11791306G>TCA416119886MTHFRc.1776C>A (p.Ala592=)
c.1653C>A (p.Ala551=)
c.1773C>A (p.Ala591=)
c.*112C>A (n.*112C>A)
c.*1165C>A (n.*1165C>A)
n.2022C>A
n.2170C>A
c.918C>A (p.Ala306=)
c.1407C>A (p.Ala469=)
n.2754C>A
1g.11791307G>ACA338474641MTHFRc.1775C>T (p.Ala592Val)
c.1652C>T (p.Ala551Val)
c.1772C>T (p.Ala591Val)
c.*111C>T (n.*111C>T)
c.*1164C>T (n.*1164C>T)
n.2021C>T
n.2169C>T
c.917C>T (p.Ala306Val)
c.1406C>T (p.Ala469Val)
n.2753C>T
1g.11791307G>CCA338474638MTHFRc.1775C>G (p.Ala592Gly)
c.1652C>G (p.Ala551Gly)
c.1772C>G (p.Ala591Gly)
c.*111C>G (n.*111C>G)
c.*1164C>G (n.*1164C>G)
n.2021C>G
n.2169C>G
c.917C>G (p.Ala306Gly)
c.1406C>G (p.Ala469Gly)
n.2753C>G
 dbSNP
1g.11791307G=CA1153792721MTHFRc.1775C= (p.Ala592=)
c.1652C= (p.Ala551=)
c.1772C= (p.Ala591=)
c.*111C= (n.*111C=)
c.*1164C= (n.*1164C=)
n.2021C=
n.2169C=
c.917C= (p.Ala306=)
c.1406C= (p.Ala469=)
n.2753C=
1g.11791307G>TCA338474639MTHFRc.1775C>A (p.Ala592Asp)
c.1652C>A (p.Ala551Asp)
c.1772C>A (p.Ala591Asp)
c.*111C>A (n.*111C>A)
c.*1164C>A (n.*1164C>A)
n.2021C>A
n.2169C>A
c.917C>A (p.Ala306Asp)
c.1406C>A (p.Ala469Asp)
n.2753C>A
1g.11791308C>ACA338474643MTHFRc.1774G>T (p.Ala592Ser)
c.1651G>T (p.Ala551Ser)
c.1771G>T (p.Ala591Ser)
c.*110G>T (n.*110G>T)
c.*1163G>T (n.*1163G>T)
n.2020G>T
n.2168G>T
c.916G>T (p.Ala306Ser)
c.1405G>T (p.Ala469Ser)
n.2752G>T
 gnomAD v4
1g.11791308C=CA1141750296MTHFRc.1774G= (p.Ala592=)
c.1651G= (p.Ala551=)
c.1771G= (p.Ala591=)
c.*110G= (n.*110G=)
c.*1163G= (n.*1163G=)
n.2020G=
n.2168G=
c.916G= (p.Ala306=)
c.1405G= (p.Ala469=)
n.2752G=
1g.11791308C>GCA338474645MTHFRc.1774G>C (p.Ala592Pro)
c.1651G>C (p.Ala551Pro)
c.1771G>C (p.Ala591Pro)
c.*110G>C (n.*110G>C)
c.*1163G>C (n.*1163G>C)
n.2020G>C
n.2168G>C
c.916G>C (p.Ala306Pro)
c.1405G>C (p.Ala469Pro)
n.2752G>C
1g.11791308C>TCA595254MTHFRc.1774G>A (p.Ala592Thr)
c.1651G>A (p.Ala551Thr)
c.1771G>A (p.Ala591Thr)
c.*110G>A (n.*110G>A)
c.*1163G>A (n.*1163G>A)
n.2020G>A
n.2168G>A
c.916G>A (p.Ala306Thr)
c.1405G>A (p.Ala469Thr)
n.2752G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11791309A>CCA338474648MTHFRc.1773T>G (p.Asn591Lys)
c.1650T>G (p.Asn550Lys)
c.1770T>G (p.Asn590Lys)
c.*109T>G (n.*109T>G)
c.*1162T>G (n.*1162T>G)
n.2019T>G
n.2167T>G
c.915T>G (p.Asn305Lys)
c.1404T>G (p.Asn468Lys)
n.2751T>G
 gnomAD v4
1g.11791309A>GCA416119887MTHFRc.1773T>C (p.Asn591=)
c.1650T>C (p.Asn550=)
c.1770T>C (p.Asn590=)
c.*109T>C (n.*109T>C)
c.*1162T>C (n.*1162T>C)
n.2019T>C
n.2167T>C
c.915T>C (p.Asn305=)
c.1404T>C (p.Asn468=)
n.2751T>C
 ClinVar dbSNP
1g.11791309A>TCA338474650MTHFRc.1773T>A (p.Asn591Lys)
c.1650T>A (p.Asn550Lys)
c.1770T>A (p.Asn590Lys)
c.*109T>A (n.*109T>A)
c.*1162T>A (n.*1162T>A)
n.2019T>A
n.2167T>A
c.915T>A (p.Asn305Lys)
c.1404T>A (p.Asn468Lys)
n.2751T>A
 gnomAD v4
1g.11791310T>ACA338474654MTHFRc.1772A>T (p.Asn591Ile)
c.1649A>T (p.Asn550Ile)
c.1769A>T (p.Asn590Ile)
c.*108A>T (n.*108A>T)
c.*1161A>T (n.*1161A>T)
n.2018A>T
n.2166A>T
c.914A>T (p.Asn305Ile)
c.1403A>T (p.Asn468Ile)
n.2750A>T
 gnomAD v4
1g.11791310T>CCA595255MTHFRc.1772A>G (p.Asn591Ser)
c.1649A>G (p.Asn550Ser)
c.1769A>G (p.Asn590Ser)
c.*108A>G (n.*108A>G)
c.*1161A>G (n.*1161A>G)
n.2018A>G
n.2166A>G
c.914A>G (p.Asn305Ser)
c.1403A>G (p.Asn468Ser)
n.2750A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11791310T>GCA338474653MTHFRc.1772A>C (p.Asn591Thr)
c.1649A>C (p.Asn550Thr)
c.1769A>C (p.Asn590Thr)
c.*108A>C (n.*108A>C)
c.*1161A>C (n.*1161A>C)
n.2018A>C
n.2166A>C
c.914A>C (p.Asn305Thr)
c.1403A>C (p.Asn468Thr)
n.2750A>C
1g.11791310T=CA1153792733MTHFRc.1772A= (p.Asn591=)
c.1649A= (p.Asn550=)
c.1769A= (p.Asn590=)
c.*108A= (n.*108A=)
c.*1161A= (n.*1161A=)
n.2018A=
n.2166A=
c.914A= (p.Asn305=)
c.1403A= (p.Asn468=)
n.2750A=
1g.11791311T>ACA338474656MTHFRc.1771A>T (p.Asn591Tyr)
c.1648A>T (p.Asn550Tyr)
c.1768A>T (p.Asn590Tyr)
c.*107A>T (n.*107A>T)
c.*1160A>T (n.*1160A>T)
n.2017A>T
n.2165A>T
c.913A>T (p.Asn305Tyr)
c.1402A>T (p.Asn468Tyr)
n.2749A>T
 dbSNP gnomAD v3 gnomAD v4
1g.11791311T>CCA338474658MTHFRc.1771A>G (p.Asn591Asp)
c.1648A>G (p.Asn550Asp)
c.1768A>G (p.Asn590Asp)
c.*107A>G (n.*107A>G)
c.*1160A>G (n.*1160A>G)
n.2017A>G
n.2165A>G
c.913A>G (p.Asn305Asp)
c.1402A>G (p.Asn468Asp)
n.2749A>G
 gnomAD v4
1g.11791311T>GCA338474660MTHFRc.1771A>C (p.Asn591His)
c.1648A>C (p.Asn550His)
c.1768A>C (p.Asn590His)
c.*107A>C (n.*107A>C)
c.*1160A>C (n.*1160A>C)
n.2017A>C
n.2165A>C
c.913A>C (p.Asn305His)
c.1402A>C (p.Asn468His)
n.2749A>C
1g.11791311T=CA1153792742MTHFRc.1771A= (p.Asn591=)
c.1648A= (p.Asn550=)
c.1768A= (p.Asn590=)
c.*107A= (n.*107A=)
c.*1160A= (n.*1160A=)
n.2017A=
n.2165A=
c.913A= (p.Asn305=)
c.1402A= (p.Asn468=)
n.2749A=
1g.11791313_11791315delCA2580060872MTHFRc.1769_1771del (p.Thr590del)
c.1646_1648del (p.Thr549del)
c.1766_1768del (p.Thr589del)
c.*105_*107del (n.*105_*107del)
c.*1158_*1160del (n.*1158_*1160del)
n.2015_2017del
n.2163_2165del
c.911_913del (p.Thr304del)
c.1400_1402del (p.Thr467del)
n.2747_2749del
 ClinVar gnomAD v4
1g.11791312G>ACA416119888MTHFRc.1770C>T (p.Thr590=)
c.1647C>T (p.Thr549=)
c.1767C>T (p.Thr589=)
c.*106C>T (n.*106C>T)
c.*1159C>T (n.*1159C>T)
n.2016C>T
n.2164C>T
c.912C>T (p.Thr304=)
c.1401C>T (p.Thr467=)
n.2748C>T
1g.11791312G>CCA416119889MTHFRc.1770C>G (p.Thr590=)
c.1647C>G (p.Thr549=)
c.1767C>G (p.Thr589=)
c.*106C>G (n.*106C>G)
c.*1159C>G (n.*1159C>G)
n.2016C>G
n.2164C>G
c.912C>G (p.Thr304=)
c.1401C>G (p.Thr467=)
n.2748C>G
 dbSNP gnomAD v4
1g.11791312G=CA1153792748MTHFRc.1770C= (p.Thr590=)
c.1647C= (p.Thr549=)
c.1767C= (p.Thr589=)
c.*106C= (n.*106C=)
c.*1159C= (n.*1159C=)
n.2016C=
n.2164C=
c.912C= (p.Thr304=)
c.1401C= (p.Thr467=)
n.2748C=
1g.11791312G>TCA416119890MTHFRc.1770C>A (p.Thr590=)
c.1647C>A (p.Thr549=)
c.1767C>A (p.Thr589=)
c.*106C>A (n.*106C>A)
c.*1159C>A (n.*1159C>A)
n.2016C>A
n.2164C>A
c.912C>A (p.Thr304=)
c.1401C>A (p.Thr467=)
n.2748C>A

Number of alleles fetched