Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.11788130_11788144delinsCTGGGCCCTCTCTGGCA1149047550C1orf167,MTHFRc.3363-34_3363-20delinsCTGGGCCCTCTCTGG (n.3363-34_3363-20delinsCTGGGCCCTCTCTGG)
c.3849-19_3849-5delinsCTGGGCCCTCTCTGG (n.3849-19_3849-5delinsCTGGGCCCTCTCTGG)
c.*2536_*2550delinsCCAGAGAGGGCCCAG (n.*2536_*2550delinsCCAGAGAGGGCCCAG)
c.1999-34_1999-20delinsCTGGGCCCTCTCTGG
c.4630_4644delinsCCAGAGAGGGCCCAG (n.4630_4644delinsCCAGAGAGGGCCCAG)
c.3921-34_3921-20delinsCTGGGCCCTCTCTGG (n.3921-34_3921-20delinsCTGGGCCCTCTCTGG)
c.1348-19_1348-5delinsCTGGGCCCTCTCTGG
c.1177+83_1177+97delinsCTGGGCCCTCTCTGG
n.236+83_236+97delinsCTGGGCCCTCTCTGG
c.3984-19_3984-5delinsCTGGGCCCTCTCTGG (n.3984-19_3984-5delinsCTGGGCCCTCTCTGG)
c.3930-19_3930-5delinsCTGGGCCCTCTCTGG (n.3930-19_3930-5delinsCTGGGCCCTCTCTGG)
c.3983+83_3983+97delinsCTGGGCCCTCTCTGG (n.3983+83_3983+97delinsCTGGGCCCTCTCTGG)
c.3576-19_3576-5delinsCTGGGCCCTCTCTGG (n.3576-19_3576-5delinsCTGGGCCCTCTCTGG)
c.2265-19_2265-5delinsCTGGGCCCTCTCTGG (n.2265-19_2265-5delinsCTGGGCCCTCTCTGG)
1g.11788134_11788144delCA595072C1orf167,MTHFRc.3363-30_3363-20del (n.3363-30_3363-20del)
c.3849-15_3849-5del (n.3849-15_3849-5del)
c.*2540_*2550del (n.*2540_*2550del)
c.1999-30_1999-20del
c.4634_4644del (n.4634_4644del)
c.3921-30_3921-20del (n.3921-30_3921-20del)
c.1348-15_1348-5del
c.1177+87_1177+97del
n.236+87_236+97del
c.3984-15_3984-5del (n.3984-15_3984-5del)
c.3930-15_3930-5del (n.3930-15_3930-5del)
c.3983+87_3983+97del (n.3983+87_3983+97del)
c.3576-15_3576-5del (n.3576-15_3576-5del)
c.2265-15_2265-5del (n.2265-15_2265-5del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11788143_11788149delinsGGCCAGTCA1153786844C1orf167,MTHFRc.3363-21_3363-15delinsGGCCAGT (n.3363-21_3363-15delinsGGCCAGT)
c.3849-6_3849delinsGGCCAGT
c.*2531_*2537delinsACTGGCC (n.*2531_*2537delinsACTGGCC)
c.1999-21_1999-15delinsGGCCAGT
c.4625_4631delinsACTGGCC (n.4625_4631delinsACTGGCC)
c.3921-21_3921-15delinsGGCCAGT (n.3921-21_3921-15delinsGGCCAGT)
c.1348-6_1348delinsGGCCAGT
c.1177+96_1178-94delinsGGCCAGT
n.236+96_237-94delinsGGCCAGT
c.3984-6_3984delinsGGCCAGT
c.3930-6_3930delinsGGCCAGT
c.3983+96_3984-94delinsGGCCAGT (n.3983+96_3984-94delinsGGCCAGT)
c.3576-6_3576delinsGGCCAGT
c.2265-6_2265delinsGGCCAGT
1g.11788144G>ACA521454910C1orf167,MTHFRc.3363-20G>A (n.3363-20G>A)
c.3849-5G>A (n.3849-5G>A)
c.*2536C>T (n.*2536C>T)
c.1999-20G>A
c.4630C>T (n.4630C>T)
c.3921-20G>A (n.3921-20G>A)
c.1348-5G>A
c.1177+97G>A
n.236+97G>A
c.3984-5G>A (n.3984-5G>A)
c.3930-5G>A (n.3930-5G>A)
c.3983+97G>A (n.3983+97G>A)
c.3576-5G>A (n.3576-5G>A)
c.2265-5G>A (n.2265-5G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788144G=CA1153786847C1orf167,MTHFRc.3363-20G= (n.3363-20G=)
c.3849-5G= (n.3849-5G=)
c.*2536C= (n.*2536C=)
c.1999-20G=
c.4630C= (n.4630C=)
c.3921-20G= (n.3921-20G=)
c.1348-5G=
c.1177+97G=
n.236+97G=
c.3984-5G= (n.3984-5G=)
c.3930-5G= (n.3930-5G=)
c.3983+97G= (n.3983+97G=)
c.3576-5G= (n.3576-5G=)
c.2265-5G= (n.2265-5G=)
1g.11788144G>TCA521454908C1orf167,MTHFRc.3363-20G>T (n.3363-20G>T)
c.3849-5G>T (n.3849-5G>T)
c.*2536C>A (n.*2536C>A)
c.1999-20G>T
c.4630C>A (n.4630C>A)
c.3921-20G>T (n.3921-20G>T)
c.1348-5G>T
c.1177+97G>T
n.236+97G>T
c.3984-5G>T (n.3984-5G>T)
c.3930-5G>T (n.3930-5G>T)
c.3983+97G>T (n.3983+97G>T)
c.3576-5G>T (n.3576-5G>T)
c.2265-5G>T (n.2265-5G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788146_11788151delCA521454909C1orf167,MTHFRc.3363-18_3363-13del (n.3363-18_3363-13del)
c.3849-3_3851del
c.*2531_*2536del (n.*2531_*2536del)
c.1999-18_1999-13del
c.4625_4630del (n.4625_4630del)
c.3921-18_3921-13del (n.3921-18_3921-13del)
c.1348-3_1350del
c.1178-97_1178-92del
n.237-97_237-92del
c.3984-3_3986del
c.3930-3_3932del
c.3984-97_3984-92del (n.3984-97_3984-92del)
c.3576-3_3578del
c.2265-3_2267del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788145C>ACA2643295623C1orf167,MTHFRc.3363-19C>A (n.3363-19C>A)
c.3849-4C>A (n.3849-4C>A)
c.*2535G>T (n.*2535G>T)
c.1999-19C>A
c.4629G>T (n.4629G>T)
c.3921-19C>A (n.3921-19C>A)
c.1348-4C>A
c.1178-98C>A
n.237-98C>A
c.3984-4C>A (n.3984-4C>A)
c.3930-4C>A (n.3930-4C>A)
c.3984-98C>A (n.3984-98C>A)
c.3576-4C>A (n.3576-4C>A)
c.2265-4C>A (n.2265-4C>A)
gnomAD v4
1g.11788145C>GCA2643295624C1orf167,MTHFRc.3363-19C>G (n.3363-19C>G)
c.3849-4C>G (n.3849-4C>G)
c.*2535G>C (n.*2535G>C)
c.1999-19C>G
c.4629G>C (n.4629G>C)
c.3921-19C>G (n.3921-19C>G)
c.1348-4C>G
c.1178-98C>G
n.237-98C>G
c.3984-4C>G (n.3984-4C>G)
c.3930-4C>G (n.3930-4C>G)
c.3984-98C>G (n.3984-98C>G)
c.3576-4C>G (n.3576-4C>G)
c.2265-4C>G (n.2265-4C>G)
gnomAD v4
1g.11788145C>TCA2643295625C1orf167,MTHFRc.3363-19C>T (n.3363-19C>T)
c.3849-4C>T (n.3849-4C>T)
c.*2535G>A (n.*2535G>A)
c.1999-19C>T
c.4629G>A (n.4629G>A)
c.3921-19C>T (n.3921-19C>T)
c.1348-4C>T
c.1178-98C>T
n.237-98C>T
c.3984-4C>T (n.3984-4C>T)
c.3930-4C>T (n.3930-4C>T)
c.3984-98C>T (n.3984-98C>T)
c.3576-4C>T (n.3576-4C>T)
c.2265-4C>T (n.2265-4C>T)
gnomAD v4
1g.11788146C>ACA2643295626C1orf167,MTHFRc.3363-18C>A (n.3363-18C>A)
c.3849-3C>A (n.3849-3C>A)
c.*2534G>T (n.*2534G>T)
c.1999-18C>A
c.4628G>T (n.4628G>T)
c.3921-18C>A (n.3921-18C>A)
c.1348-3C>A
c.1178-97C>A
n.237-97C>A
c.3984-3C>A (n.3984-3C>A)
c.3930-3C>A (n.3930-3C>A)
c.3984-97C>A (n.3984-97C>A)
c.3576-3C>A (n.3576-3C>A)
c.2265-3C>A (n.2265-3C>A)
gnomAD v4
1g.11788146C>TCA2643295627C1orf167,MTHFRc.3363-18C>T (n.3363-18C>T)
c.3849-3C>T (n.3849-3C>T)
c.*2534G>A (n.*2534G>A)
c.1999-18C>T
c.4628G>A (n.4628G>A)
c.3921-18C>T (n.3921-18C>T)
c.1348-3C>T
c.1178-97C>T
n.237-97C>T
c.3984-3C>T (n.3984-3C>T)
c.3930-3C>T (n.3930-3C>T)
c.3984-97C>T (n.3984-97C>T)
c.3576-3C>T (n.3576-3C>T)
c.2265-3C>T (n.2265-3C>T)
gnomAD v4
1g.11788147A=CA1153786850C1orf167,MTHFRc.3363-17A= (n.3363-17A=)
c.3849-2A= (n.3849-2A=)
c.*2533T= (n.*2533T=)
c.1999-17A=
c.4627T= (n.4627T=)
c.3921-17A= (n.3921-17A=)
c.1348-2A=
c.1178-96A=
n.237-96A=
c.3984-2A= (n.3984-2A=)
c.3930-2A= (n.3930-2A=)
c.3984-96A= (n.3984-96A=)
c.3576-2A= (n.3576-2A=)
c.2265-2A= (n.2265-2A=)
1g.11788147A>GCA521454911C1orf167,MTHFRc.3363-17A>G (n.3363-17A>G)
c.3849-2A>G (n.3849-2A>G)
c.*2533T>C (n.*2533T>C)
c.1999-17A>G
c.4627T>C (n.4627T>C)
c.3921-17A>G (n.3921-17A>G)
c.1348-2A>G
c.1178-96A>G
n.237-96A>G
c.3984-2A>G (n.3984-2A>G)
c.3930-2A>G (n.3930-2A>G)
c.3984-96A>G (n.3984-96A>G)
c.3576-2A>G (n.3576-2A>G)
c.2265-2A>G (n.2265-2A>G)
dbSNP gnomAD v2 gnomAD v4
1g.11788148G>ACA17996152C1orf167,MTHFRc.3363-16G>A (n.3363-16G>A)
c.3849-1G>A (n.3849-1G>A)
c.*2532C>T (n.*2532C>T)
c.1999-16G>A
c.4626C>T (n.4626C>T)
c.3921-16G>A (n.3921-16G>A)
c.1348-1G>A
c.1178-95G>A
n.237-95G>A
c.3984-1G>A (n.3984-1G>A)
c.3930-1G>A (n.3930-1G>A)
c.3984-95G>A (n.3984-95G>A)
c.3576-1G>A (n.3576-1G>A)
c.2265-1G>A (n.2265-1G>A)
dbSNP gnomAD v4
1g.11788148G=CA1153786852C1orf167,MTHFRc.3363-16G= (n.3363-16G=)
c.3849-1G= (n.3849-1G=)
c.*2532C= (n.*2532C=)
c.1999-16G=
c.4626C= (n.4626C=)
c.3921-16G= (n.3921-16G=)
c.1348-1G=
c.1178-95G=
n.237-95G=
c.3984-1G= (n.3984-1G=)
c.3930-1G= (n.3930-1G=)
c.3984-95G= (n.3984-95G=)
c.3576-1G= (n.3576-1G=)
c.2265-1G= (n.2265-1G=)
1g.11788149T>ACA416361667C1orf167,MTHFRc.3363-15T>A (n.3363-15T>A)
c.3849T>A (p.Arg1283=)
c.*2531A>T (n.*2531A>T)
c.1999-15T>A
c.4625A>T (n.4625A>T)
c.3921-15T>A (n.3921-15T>A)
c.1348T>A
c.1178-94T>A
n.237-94T>A
c.3984T>A (p.Arg1328=)
c.3930T>A (p.Arg1310=)
c.3984-94T>A (n.3984-94T>A)
c.3576T>A (p.Arg1192=)
c.2265T>A (p.Arg755=)
COSMIC COSMIC
1g.11788149T>CCA416361668C1orf167,MTHFRc.3363-15T>C (n.3363-15T>C)
c.3849T>C (p.Arg1283=)
c.*2531A>G (n.*2531A>G)
c.1999-15T>C
c.4625A>G (n.4625A>G)
c.3921-15T>C (n.3921-15T>C)
c.1348T>C
c.1178-94T>C
n.237-94T>C
c.3984T>C (p.Arg1328=)
c.3930T>C (p.Arg1310=)
c.3984-94T>C (n.3984-94T>C)
c.3576T>C (p.Arg1192=)
c.2265T>C (p.Arg755=)
1g.11788149T>GCA416361669C1orf167,MTHFRc.3363-15T>G (n.3363-15T>G)
c.3849T>G (p.Arg1283=)
c.*2531A>C (n.*2531A>C)
c.1999-15T>G
c.4625A>C (n.4625A>C)
c.3921-15T>G (n.3921-15T>G)
c.1348T>G
c.1178-94T>G
n.237-94T>G
c.3984T>G (p.Arg1328=)
c.3930T>G (p.Arg1310=)
c.3984-94T>G (n.3984-94T>G)
c.3576T>G (p.Arg1192=)
c.2265T>G (p.Arg755=)
1g.11788150G>ACA416361670C1orf167,MTHFRc.3363-14G>A (n.3363-14G>A)
c.3850G>A (p.Ala1284Thr)
c.*2530C>T (n.*2530C>T)
c.1999-14G>A
c.4624C>T (n.4624C>T)
c.3921-14G>A (n.3921-14G>A)
c.1349G>A
c.1178-93G>A
n.237-93G>A
c.3985G>A (p.Ala1329Thr)
c.3931G>A (p.Ala1311Thr)
c.3984-93G>A (n.3984-93G>A)
c.3577G>A (p.Ala1193Thr)
c.2266G>A (p.Ala756Thr)
gnomAD v4
1g.11788150G>CCA416361672C1orf167,MTHFRc.3363-14G>C (n.3363-14G>C)
c.3850G>C (p.Ala1284Pro)
c.*2530C>G (n.*2530C>G)
c.1999-14G>C
c.4624C>G (n.4624C>G)
c.3921-14G>C (n.3921-14G>C)
c.1349G>C
c.1178-93G>C
n.237-93G>C
c.3985G>C (p.Ala1329Pro)
c.3931G>C (p.Ala1311Pro)
c.3984-93G>C (n.3984-93G>C)
c.3577G>C (p.Ala1193Pro)
c.2266G>C (p.Ala756Pro)
1g.11788150G>TCA416361671C1orf167,MTHFRc.3363-14G>T (n.3363-14G>T)
c.3850G>T (p.Ala1284Ser)
c.*2530C>A (n.*2530C>A)
c.1999-14G>T
c.4624C>A (n.4624C>A)
c.3921-14G>T (n.3921-14G>T)
c.1349G>T
c.1178-93G>T
n.237-93G>T
c.3985G>T (p.Ala1329Ser)
c.3931G>T (p.Ala1311Ser)
c.3984-93G>T (n.3984-93G>T)
c.3577G>T (p.Ala1193Ser)
c.2266G>T (p.Ala756Ser)
1g.11788151C>ACA416361673C1orf167,MTHFRc.3363-13C>A (n.3363-13C>A)
c.3851C>A (p.Ala1284Asp)
c.*2529G>T (n.*2529G>T)
c.1999-13C>A
c.4623G>T (n.4623G>T)
c.3921-13C>A (n.3921-13C>A)
c.1350C>A
c.1178-92C>A
n.237-92C>A
c.3986C>A (p.Ala1329Asp)
c.3932C>A (p.Ala1311Asp)
c.3984-92C>A (n.3984-92C>A)
c.3578C>A (p.Ala1193Asp)
c.2267C>A (p.Ala756Asp)
gnomAD v4
1g.11788151C=CA1153786855C1orf167,MTHFRc.3363-13C= (n.3363-13C=)
c.3851C= (p.Ala1284=)
c.*2529G= (n.*2529G=)
c.1999-13C=
c.4623G= (n.4623G=)
c.3921-13C= (n.3921-13C=)
c.1350C=
c.1178-92C=
n.237-92C=
c.3986C= (p.Ala1329=)
c.3932C= (p.Ala1311=)
c.3984-92C= (n.3984-92C=)
c.3578C= (p.Ala1193=)
c.2267C= (p.Ala756=)
1g.11788151C>GCA416361674C1orf167,MTHFRc.3363-13C>G (n.3363-13C>G)
c.3851C>G (p.Ala1284Gly)
c.*2529G>C (n.*2529G>C)
c.1999-13C>G
c.4623G>C (n.4623G>C)
c.3921-13C>G (n.3921-13C>G)
c.1350C>G
c.1178-92C>G
n.237-92C>G
c.3986C>G (p.Ala1329Gly)
c.3932C>G (p.Ala1311Gly)
c.3984-92C>G (n.3984-92C>G)
c.3578C>G (p.Ala1193Gly)
c.2267C>G (p.Ala756Gly)
gnomAD v4
1g.11788151C>TCA416361675C1orf167,MTHFRc.3363-13C>T (n.3363-13C>T)
c.3851C>T (p.Ala1284Val)
c.*2529G>A (n.*2529G>A)
c.1999-13C>T
c.4623G>A (n.4623G>A)
c.3921-13C>T (n.3921-13C>T)
c.1350C>T
c.1178-92C>T
n.237-92C>T
c.3986C>T (p.Ala1329Val)
c.3932C>T (p.Ala1311Val)
c.3984-92C>T (n.3984-92C>T)
c.3578C>T (p.Ala1193Val)
c.2267C>T (p.Ala756Val)
dbSNP gnomAD v4
1g.11788152T>ACA416361676C1orf167,MTHFRc.3363-12T>A (n.3363-12T>A)
c.3852T>A (p.Ala1284=)
c.*2528A>T (n.*2528A>T)
c.1999-12T>A
c.4622A>T (n.4622A>T)
c.3921-12T>A (n.3921-12T>A)
c.1351T>A
c.1178-91T>A
n.237-91T>A
c.3987T>A (p.Ala1329=)
c.3933T>A (p.Ala1311=)
c.3984-91T>A (n.3984-91T>A)
c.3579T>A (p.Ala1193=)
c.2268T>A (p.Ala756=)
1g.11788152T>CCA416361677C1orf167,MTHFRc.3363-12T>C (n.3363-12T>C)
c.3852T>C (p.Ala1284=)
c.*2528A>G (n.*2528A>G)
c.1999-12T>C
c.4622A>G (n.4622A>G)
c.3921-12T>C (n.3921-12T>C)
c.1351T>C
c.1178-91T>C
n.237-91T>C
c.3987T>C (p.Ala1329=)
c.3933T>C (p.Ala1311=)
c.3984-91T>C (n.3984-91T>C)
c.3579T>C (p.Ala1193=)
c.2268T>C (p.Ala756=)
1g.11788152T>GCA416361678C1orf167,MTHFRc.3363-12T>G (n.3363-12T>G)
c.3852T>G (p.Ala1284=)
c.*2528A>C (n.*2528A>C)
c.1999-12T>G
c.4622A>C (n.4622A>C)
c.3921-12T>G (n.3921-12T>G)
c.1351T>G
c.1178-91T>G
n.237-91T>G
c.3987T>G (p.Ala1329=)
c.3933T>G (p.Ala1311=)
c.3984-91T>G (n.3984-91T>G)
c.3579T>G (p.Ala1193=)
c.2268T>G (p.Ala756=)
1g.11788153C>ACA416361679C1orf167,MTHFRc.3363-11C>A (n.3363-11C>A)
c.3853C>A (p.Arg1285Ser)
c.*2527G>T (n.*2527G>T)
c.1999-11C>A
c.4621G>T (n.4621G>T)
c.3921-11C>A (n.3921-11C>A)
c.1352C>A
c.1178-90C>A
n.237-90C>A
c.3988C>A (p.Arg1330Ser)
c.3934C>A (p.Arg1312Ser)
c.3984-90C>A (n.3984-90C>A)
c.3580C>A (p.Arg1194Ser)
c.2269C>A (p.Arg757Ser)
dbSNP gnomAD v2 gnomAD v4
1g.11788153C=CA1153786857C1orf167,MTHFRc.3363-11C= (n.3363-11C=)
c.3853C= (p.Arg1285=)
c.*2527G= (n.*2527G=)
c.1999-11C=
c.4621G= (n.4621G=)
c.3921-11C= (n.3921-11C=)
c.1352C=
c.1178-90C=
n.237-90C=
c.3988C= (p.Arg1330=)
c.3934C= (p.Arg1312=)
c.3984-90C= (n.3984-90C=)
c.3580C= (p.Arg1194=)
c.2269C= (p.Arg757=)
1g.11788153C>GCA416361680C1orf167,MTHFRc.3363-11C>G (n.3363-11C>G)
c.3853C>G (p.Arg1285Gly)
c.*2527G>C (n.*2527G>C)
c.1999-11C>G
c.4621G>C (n.4621G>C)
c.3921-11C>G (n.3921-11C>G)
c.1352C>G
c.1178-90C>G
n.237-90C>G
c.3988C>G (p.Arg1330Gly)
c.3934C>G (p.Arg1312Gly)
c.3984-90C>G (n.3984-90C>G)
c.3580C>G (p.Arg1194Gly)
c.2269C>G (p.Arg757Gly)
gnomAD v4
1g.11788153C>TCA595074C1orf167,MTHFRc.3363-11C>T (n.3363-11C>T)
c.3853C>T (p.Arg1285Cys)
c.*2527G>A (n.*2527G>A)
c.1999-11C>T
c.4621G>A (n.4621G>A)
c.3921-11C>T (n.3921-11C>T)
c.1352C>T
c.1178-90C>T
n.237-90C>T
c.3988C>T (p.Arg1330Cys)
c.3934C>T (p.Arg1312Cys)
c.3984-90C>T (n.3984-90C>T)
c.3580C>T (p.Arg1194Cys)
c.2269C>T (p.Arg757Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11788154G>ACA10607858C1orf167,MTHFRc.3363-10G>A (n.3363-10G>A)
c.3854G>A (p.Arg1285His)
c.*2526C>T (n.*2526C>T)
c.1999-10G>A
c.4620C>T (n.4620C>T)
c.3921-10G>A (n.3921-10G>A)
c.1353G>A
c.1178-89G>A
n.237-89G>A
c.3989G>A (p.Arg1330His)
c.3935G>A (p.Arg1312His)
c.3984-89G>A (n.3984-89G>A)
c.3581G>A (p.Arg1194His)
c.2270G>A (p.Arg757His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788154G>CCA416361681C1orf167,MTHFRc.3363-10G>C (n.3363-10G>C)
c.3854G>C (p.Arg1285Pro)
c.*2526C>G (n.*2526C>G)
c.1999-10G>C
c.4620C>G (n.4620C>G)
c.3921-10G>C (n.3921-10G>C)
c.1353G>C
c.1178-89G>C
n.237-89G>C
c.3989G>C (p.Arg1330Pro)
c.3935G>C (p.Arg1312Pro)
c.3984-89G>C (n.3984-89G>C)
c.3581G>C (p.Arg1194Pro)
c.2270G>C (p.Arg757Pro)
1g.11788154G=CA1153786864C1orf167,MTHFRc.3363-10G= (n.3363-10G=)
c.3854G= (p.Arg1285=)
c.*2526C= (n.*2526C=)
c.1999-10G=
c.4620C= (n.4620C=)
c.3921-10G= (n.3921-10G=)
c.1353G=
c.1178-89G=
n.237-89G=
c.3989G= (p.Arg1330=)
c.3935G= (p.Arg1312=)
c.3984-89G= (n.3984-89G=)
c.3581G= (p.Arg1194=)
c.2270G= (p.Arg757=)
1g.11788154G>TCA416361682C1orf167,MTHFRc.3363-10G>T (n.3363-10G>T)
c.3854G>T (p.Arg1285Leu)
c.*2526C>A (n.*2526C>A)
c.1999-10G>T
c.4620C>A (n.4620C>A)
c.3921-10G>T (n.3921-10G>T)
c.1353G>T
c.1178-89G>T
n.237-89G>T
c.3989G>T (p.Arg1330Leu)
c.3935G>T (p.Arg1312Leu)
c.3984-89G>T (n.3984-89G>T)
c.3581G>T (p.Arg1194Leu)
c.2270G>T (p.Arg757Leu)
gnomAD v4
1g.11788154_11788155dupCA2742479576C1orf167,MTHFRc.3363-10_3363-9dup (n.3363-10_3363-9dup)
c.3854_3855dup (p.Ser1286ValfsTer21)
c.*2525_*2526dup (n.*2525_*2526dup)
c.1999-10_1999-9dup
c.4619_4620dup (n.4619_4620dup)
c.3921-10_3921-9dup (n.3921-10_3921-9dup)
c.1353_1354dup
c.1178-89_1178-88dup
n.237-89_237-88dup
c.3989_3990dup (p.Ser1331ValfsTer21)
c.3935_3936dup (p.Ser1313ValfsTer21)
c.3984-89_3984-88dup (n.3984-89_3984-88dup)
c.3581_3582dup (p.Ser1195ValfsTer21)
c.2270_2271dup (p.Ser758ValfsTer21)
1g.11788155T>ACA416361685C1orf167,MTHFRc.3363-9T>A (n.3363-9T>A)
c.3855T>A (p.Arg1285=)
c.*2525A>T (n.*2525A>T)
c.1999-9T>A
c.4619A>T (n.4619A>T)
c.3921-9T>A (n.3921-9T>A)
c.1354T>A
c.1178-88T>A
n.237-88T>A
c.3990T>A (p.Arg1330=)
c.3936T>A (p.Arg1312=)
c.3984-88T>A (n.3984-88T>A)
c.3582T>A (p.Arg1194=)
c.2271T>A (p.Arg757=)
1g.11788155T>CCA416361683C1orf167,MTHFRc.3363-9T>C (n.3363-9T>C)
c.3855T>C (p.Arg1285=)
c.*2525A>G (n.*2525A>G)
c.1999-9T>C
c.4619A>G (n.4619A>G)
c.3921-9T>C (n.3921-9T>C)
c.1354T>C
c.1178-88T>C
n.237-88T>C
c.3990T>C (p.Arg1330=)
c.3936T>C (p.Arg1312=)
c.3984-88T>C (n.3984-88T>C)
c.3582T>C (p.Arg1194=)
c.2271T>C (p.Arg757=)
1g.11788155T>GCA416361684C1orf167,MTHFRc.3363-9T>G (n.3363-9T>G)
c.3855T>G (p.Arg1285=)
c.*2525A>C (n.*2525A>C)
c.1999-9T>G
c.4619A>C (n.4619A>C)
c.3921-9T>G (n.3921-9T>G)
c.1354T>G
c.1178-88T>G
n.237-88T>G
c.3990T>G (p.Arg1330=)
c.3936T>G (p.Arg1312=)
c.3984-88T>G (n.3984-88T>G)
c.3582T>G (p.Arg1194=)
c.2271T>G (p.Arg757=)
gnomAD v4
1g.11788156T>ACA416361686C1orf167,MTHFRc.3363-8T>A (n.3363-8T>A)
c.3856T>A (p.Ser1286Thr)
c.*2524A>T (n.*2524A>T)
c.1999-8T>A
c.4618A>T (n.4618A>T)
c.3921-8T>A (n.3921-8T>A)
c.1355T>A
c.1178-87T>A
n.237-87T>A
c.3991T>A (p.Ser1331Thr)
c.3937T>A (p.Ser1313Thr)
c.3984-87T>A (n.3984-87T>A)
c.3583T>A (p.Ser1195Thr)
c.2272T>A (p.Ser758Thr)
1g.11788156T>CCA416361687C1orf167,MTHFRc.3363-8T>C (n.3363-8T>C)
c.3856T>C (p.Ser1286Pro)
c.*2524A>G (n.*2524A>G)
c.1999-8T>C
c.4618A>G (n.4618A>G)
c.3921-8T>C (n.3921-8T>C)
c.1355T>C
c.1178-87T>C
n.237-87T>C
c.3991T>C (p.Ser1331Pro)
c.3937T>C (p.Ser1313Pro)
c.3984-87T>C (n.3984-87T>C)
c.3583T>C (p.Ser1195Pro)
c.2272T>C (p.Ser758Pro)
1g.11788156T>GCA416361688C1orf167,MTHFRc.3363-8T>G (n.3363-8T>G)
c.3856T>G (p.Ser1286Ala)
c.*2524A>C (n.*2524A>C)
c.1999-8T>G
c.4618A>C (n.4618A>C)
c.3921-8T>G (n.3921-8T>G)
c.1355T>G
c.1178-87T>G
n.237-87T>G
c.3991T>G (p.Ser1331Ala)
c.3937T>G (p.Ser1313Ala)
c.3984-87T>G (n.3984-87T>G)
c.3583T>G (p.Ser1195Ala)
c.2272T>G (p.Ser758Ala)
1g.11788157C>ACA416361689C1orf167,MTHFRc.3363-7C>A (n.3363-7C>A)
c.3857C>A (p.Ser1286Tyr)
c.*2523G>T (n.*2523G>T)
c.1999-7C>A
c.4617G>T (n.4617G>T)
c.3921-7C>A (n.3921-7C>A)
c.1356C>A
c.1178-86C>A
n.237-86C>A
c.3992C>A (p.Ser1331Tyr)
c.3938C>A (p.Ser1313Tyr)
c.3984-86C>A (n.3984-86C>A)
c.3584C>A (p.Ser1195Tyr)
c.2273C>A (p.Ser758Tyr)
gnomAD v4
1g.11788157C=CA1153786870C1orf167,MTHFRc.3363-7C= (n.3363-7C=)
c.3857C= (p.Ser1286=)
c.*2523G= (n.*2523G=)
c.1999-7C=
c.4617G= (n.4617G=)
c.3921-7C= (n.3921-7C=)
c.1356C=
c.1178-86C=
n.237-86C=
c.3992C= (p.Ser1331=)
c.3938C= (p.Ser1313=)
c.3984-86C= (n.3984-86C=)
c.3584C= (p.Ser1195=)
c.2273C= (p.Ser758=)
1g.11788157C>GCA416361690C1orf167,MTHFRc.3363-7C>G (n.3363-7C>G)
c.3857C>G (p.Ser1286Cys)
c.*2523G>C (n.*2523G>C)
c.1999-7C>G
c.4617G>C (n.4617G>C)
c.3921-7C>G (n.3921-7C>G)
c.1356C>G
c.1178-86C>G
n.237-86C>G
c.3992C>G (p.Ser1331Cys)
c.3938C>G (p.Ser1313Cys)
c.3984-86C>G (n.3984-86C>G)
c.3584C>G (p.Ser1195Cys)
c.2273C>G (p.Ser758Cys)
1g.11788157C>TCA416361691C1orf167,MTHFRc.3363-7C>T (n.3363-7C>T)
c.3857C>T (p.Ser1286Phe)
c.*2523G>A (n.*2523G>A)
c.1999-7C>T
c.4617G>A (n.4617G>A)
c.3921-7C>T (n.3921-7C>T)
c.1356C>T
c.1178-86C>T
n.237-86C>T
c.3992C>T (p.Ser1331Phe)
c.3938C>T (p.Ser1313Phe)
c.3984-86C>T (n.3984-86C>T)
c.3584C>T (p.Ser1195Phe)
c.2273C>T (p.Ser758Phe)
dbSNP gnomAD v4
1g.11788158C>ACA416361692C1orf167,MTHFRc.3363-6C>A (n.3363-6C>A)
c.3858C>A (p.Ser1286=)
c.*2522G>T (n.*2522G>T)
c.1999-6C>A
c.4616G>T (n.4616G>T)
c.3921-6C>A (n.3921-6C>A)
c.1357C>A
c.1178-85C>A
n.237-85C>A
c.3993C>A (p.Ser1331=)
c.3939C>A (p.Ser1313=)
c.3984-85C>A (n.3984-85C>A)
c.3585C>A (p.Ser1195=)
c.2274C>A (p.Ser758=)
gnomAD v4
1g.11788158C=CA1153786877C1orf167,MTHFRc.3363-6C= (n.3363-6C=)
c.3858C= (p.Ser1286=)
c.*2522G= (n.*2522G=)
c.1999-6C=
c.4616G= (n.4616G=)
c.3921-6C= (n.3921-6C=)
c.1357C=
c.1178-85C=
n.237-85C=
c.3993C= (p.Ser1331=)
c.3939C= (p.Ser1313=)
c.3984-85C= (n.3984-85C=)
c.3585C= (p.Ser1195=)
c.2274C= (p.Ser758=)
1g.11788158C>GCA416361693C1orf167,MTHFRc.3363-6C>G (n.3363-6C>G)
c.3858C>G (p.Ser1286=)
c.*2522G>C (n.*2522G>C)
c.1999-6C>G
c.4616G>C (n.4616G>C)
c.3921-6C>G (n.3921-6C>G)
c.1357C>G
c.1178-85C>G
n.237-85C>G
c.3993C>G (p.Ser1331=)
c.3939C>G (p.Ser1313=)
c.3984-85C>G (n.3984-85C>G)
c.3585C>G (p.Ser1195=)
c.2274C>G (p.Ser758=)
1g.11788158C>TCA416361694C1orf167,MTHFRc.3363-6C>T (n.3363-6C>T)
c.3858C>T (p.Ser1286=)
c.*2522G>A (n.*2522G>A)
c.1999-6C>T
c.4616G>A (n.4616G>A)
c.3921-6C>T (n.3921-6C>T)
c.1357C>T
c.1178-85C>T
n.237-85C>T
c.3993C>T (p.Ser1331=)
c.3939C>T (p.Ser1313=)
c.3984-85C>T (n.3984-85C>T)
c.3585C>T (p.Ser1195=)
c.2274C>T (p.Ser758=)
dbSNP gnomAD v3 gnomAD v4
1g.11788159T>ACA416361695C1orf167,MTHFRc.3363-5T>A (n.3363-5T>A)
c.3859T>A (p.Cys1287Ser)
c.*2521A>T (n.*2521A>T)
c.1999-5T>A
c.4615A>T (n.4615A>T)
c.3921-5T>A (n.3921-5T>A)
c.1358T>A
c.1178-84T>A
n.237-84T>A
c.3994T>A (p.Cys1332Ser)
c.3940T>A (p.Cys1314Ser)
c.3984-84T>A (n.3984-84T>A)
c.3586T>A (p.Cys1196Ser)
c.2275T>A (p.Cys759Ser)
1g.11788159T>CCA416361696C1orf167,MTHFRc.3363-5T>C (n.3363-5T>C)
c.3859T>C (p.Cys1287Arg)
c.*2521A>G (n.*2521A>G)
c.1999-5T>C
c.4615A>G (n.4615A>G)
c.3921-5T>C (n.3921-5T>C)
c.1358T>C
c.1178-84T>C
n.237-84T>C
c.3994T>C (p.Cys1332Arg)
c.3940T>C (p.Cys1314Arg)
c.3984-84T>C (n.3984-84T>C)
c.3586T>C (p.Cys1196Arg)
c.2275T>C (p.Cys759Arg)
dbSNP gnomAD v2 gnomAD v4
1g.11788159T>GCA416361697C1orf167,MTHFRc.3363-5T>G (n.3363-5T>G)
c.3859T>G (p.Cys1287Gly)
c.*2521A>C (n.*2521A>C)
c.1999-5T>G
c.4615A>C (n.4615A>C)
c.3921-5T>G (n.3921-5T>G)
c.1358T>G
c.1178-84T>G
n.237-84T>G
c.3994T>G (p.Cys1332Gly)
c.3940T>G (p.Cys1314Gly)
c.3984-84T>G (n.3984-84T>G)
c.3586T>G (p.Cys1196Gly)
c.2275T>G (p.Cys759Gly)
1g.11788159T=CA1153786880C1orf167,MTHFRc.3363-5T= (n.3363-5T=)
c.3859T= (p.Cys1287=)
c.*2521A= (n.*2521A=)
c.1999-5T=
c.4615A= (n.4615A=)
c.3921-5T= (n.3921-5T=)
c.1358T=
c.1178-84T=
n.237-84T=
c.3994T= (p.Cys1332=)
c.3940T= (p.Cys1314=)
c.3984-84T= (n.3984-84T=)
c.3586T= (p.Cys1196=)
c.2275T= (p.Cys759=)
1g.11788160G>ACA416361699C1orf167,MTHFRc.3363-4G>A (n.3363-4G>A)
c.3860G>A (p.Cys1287Tyr)
c.*2520C>T (n.*2520C>T)
c.1999-4G>A
c.4614C>T (n.4614C>T)
c.3921-4G>A (n.3921-4G>A)
c.1359G>A
c.1178-83G>A
n.237-83G>A
c.3995G>A (p.Cys1332Tyr)
c.3941G>A (p.Cys1314Tyr)
c.3984-83G>A (n.3984-83G>A)
c.3587G>A (p.Cys1196Tyr)
c.2276G>A (p.Cys759Tyr)
gnomAD v4
1g.11788160G>CCA416361700C1orf167,MTHFRc.3363-4G>C (n.3363-4G>C)
c.3860G>C (p.Cys1287Ser)
c.*2520C>G (n.*2520C>G)
c.1999-4G>C
c.4614C>G (n.4614C>G)
c.3921-4G>C (n.3921-4G>C)
c.1359G>C
c.1178-83G>C
n.237-83G>C
c.3995G>C (p.Cys1332Ser)
c.3941G>C (p.Cys1314Ser)
c.3984-83G>C (n.3984-83G>C)
c.3587G>C (p.Cys1196Ser)
c.2276G>C (p.Cys759Ser)
1g.11788160G>TCA416361698C1orf167,MTHFRc.3363-4G>T (n.3363-4G>T)
c.3860G>T (p.Cys1287Phe)
c.*2520C>A (n.*2520C>A)
c.1999-4G>T
c.4614C>A (n.4614C>A)
c.3921-4G>T (n.3921-4G>T)
c.1359G>T
c.1178-83G>T
n.237-83G>T
c.3995G>T (p.Cys1332Phe)
c.3941G>T (p.Cys1314Phe)
c.3984-83G>T (n.3984-83G>T)
c.3587G>T (p.Cys1196Phe)
c.2276G>T (p.Cys759Phe)
1g.11788161C>ACA416361701C1orf167,MTHFRc.3363-3C>A (n.3363-3C>A)
c.3861C>A (p.Cys1287Ter)
c.*2519G>T (n.*2519G>T)
c.1999-3C>A
c.4613G>T (n.4613G>T)
c.3921-3C>A (n.3921-3C>A)
c.1360C>A
c.1178-82C>A
n.237-82C>A
c.3996C>A (p.Cys1332Ter)
c.3942C>A (p.Cys1314Ter)
c.3984-82C>A (n.3984-82C>A)
c.3588C>A (p.Cys1196Ter)
c.2277C>A (p.Cys759Ter)
gnomAD v4
1g.11788161C>GCA416361702C1orf167,MTHFRc.3363-3C>G (n.3363-3C>G)
c.3861C>G (p.Cys1287Trp)
c.*2519G>C (n.*2519G>C)
c.1999-3C>G
c.4613G>C (n.4613G>C)
c.3921-3C>G (n.3921-3C>G)
c.1360C>G
c.1178-82C>G
n.237-82C>G
c.3996C>G (p.Cys1332Trp)
c.3942C>G (p.Cys1314Trp)
c.3984-82C>G (n.3984-82C>G)
c.3588C>G (p.Cys1196Trp)
c.2277C>G (p.Cys759Trp)
1g.11788161C>TCA416361703C1orf167,MTHFRc.3363-3C>T (n.3363-3C>T)
c.3861C>T (p.Cys1287=)
c.*2519G>A (n.*2519G>A)
c.1999-3C>T
c.4613G>A (n.4613G>A)
c.3921-3C>T (n.3921-3C>T)
c.1360C>T
c.1178-82C>T
n.237-82C>T
c.3996C>T (p.Cys1332=)
c.3942C>T (p.Cys1314=)
c.3984-82C>T (n.3984-82C>T)
c.3588C>T (p.Cys1196=)
c.2277C>T (p.Cys759=)
gnomAD v4
1g.11788162A>CCA338470058C1orf167,MTHFRc.3363-2A>C (n.3363-2A>C)
c.3862A>C (p.Arg1288=)
c.*2518T>G (n.*2518T>G)
c.1999-2A>C
c.4612T>G (n.4612T>G)
c.3921-2A>C (n.3921-2A>C)
c.1361A>C
c.1178-81A>C
n.237-81A>C
c.3997A>C (p.Arg1333=)
c.3943A>C (p.Arg1315=)
c.3984-81A>C (n.3984-81A>C)
c.3589A>C (p.Arg1197=)
c.2278A>C (p.Arg760=)
1g.11788162A>GCA338470059C1orf167,MTHFRc.3363-2A>G (n.3363-2A>G)
c.3862A>G (p.Arg1288Gly)
c.*2518T>C (n.*2518T>C)
c.1999-2A>G
c.4612T>C (n.4612T>C)
c.3921-2A>G (n.3921-2A>G)
c.1361A>G
c.1178-81A>G
n.237-81A>G
c.3997A>G (p.Arg1333Gly)
c.3943A>G (p.Arg1315Gly)
c.3984-81A>G (n.3984-81A>G)
c.3589A>G (p.Arg1197Gly)
c.2278A>G (p.Arg760Gly)
1g.11788162A>TCA338470060C1orf167,MTHFRc.3363-2A>T (n.3363-2A>T)
c.3862A>T (p.Arg1288Trp)
c.*2518T>A (n.*2518T>A)
c.1999-2A>T
c.4612T>A (n.4612T>A)
c.3921-2A>T (n.3921-2A>T)
c.1361A>T
c.1178-81A>T
n.237-81A>T
c.3997A>T (p.Arg1333Trp)
c.3943A>T (p.Arg1315Trp)
c.3984-81A>T (n.3984-81A>T)
c.3589A>T (p.Arg1197Trp)
c.2278A>T (p.Arg760Trp)
1g.11788163G>ACA338470061C1orf167,MTHFRc.3363-1G>A (n.3363-1G>A)
c.3863G>A (p.Arg1288Lys)
c.*2517C>T (n.*2517C>T)
c.1999-1G>A
c.4611C>T (n.4611C>T)
c.3921-1G>A (n.3921-1G>A)
c.1362G>A
c.1178-80G>A
n.237-80G>A
c.3998G>A (p.Arg1333Lys)
c.3944G>A (p.Arg1315Lys)
c.3984-80G>A (n.3984-80G>A)
c.3590G>A (p.Arg1197Lys)
c.2279G>A (p.Arg760Lys)
1g.11788163G>CCA338470062C1orf167,MTHFRc.3363-1G>C (n.3363-1G>C)
c.3863G>C (p.Arg1288Thr)
c.*2517C>G (n.*2517C>G)
c.1999-1G>C
c.4611C>G (n.4611C>G)
c.3921-1G>C (n.3921-1G>C)
c.1362G>C
c.1178-80G>C
n.237-80G>C
c.3998G>C (p.Arg1333Thr)
c.3944G>C (p.Arg1315Thr)
c.3984-80G>C (n.3984-80G>C)
c.3590G>C (p.Arg1197Thr)
c.2279G>C (p.Arg760Thr)
1g.11788163G>TCA338470063C1orf167,MTHFRc.3363-1G>T (n.3363-1G>T)
c.3863G>T (p.Arg1288Met)
c.*2517C>A (n.*2517C>A)
c.1999-1G>T
c.4611C>A (n.4611C>A)
c.3921-1G>T (n.3921-1G>T)
c.1362G>T
c.1178-80G>T
n.237-80G>T
c.3998G>T (p.Arg1333Met)
c.3944G>T (p.Arg1315Met)
c.3984-80G>T (n.3984-80G>T)
c.3590G>T (p.Arg1197Met)
c.2279G>T (p.Arg760Met)
1g.11788164G>ACA416361704C1orf167,MTHFRc.3363G>A (p.Arg1121=)
c.3864G>A (p.Arg1288=)
c.*2516C>T (n.*2516C>T)
c.1999G>A
c.4610C>T (n.4610C>T)
c.3921G>A (p.Arg1307=)
c.1363G>A
c.1178-79G>A
n.237-79G>A
c.3999G>A (p.Arg1333=)
c.3945G>A (p.Arg1315=)
c.3984-79G>A (n.3984-79G>A)
c.3591G>A (p.Arg1197=)
c.2280G>A (p.Arg760=)
1g.11788164G>CCA416361705C1orf167,MTHFRc.3363G>C (p.Arg1121=)
c.3864G>C (p.Arg1288Ser)
c.*2516C>G (n.*2516C>G)
c.1999G>C
c.4610C>G (n.4610C>G)
c.3921G>C (p.Arg1307=)
c.1363G>C
c.1178-79G>C
n.237-79G>C
c.3999G>C (p.Arg1333Ser)
c.3945G>C (p.Arg1315Ser)
c.3984-79G>C (n.3984-79G>C)
c.3591G>C (p.Arg1197Ser)
c.2280G>C (p.Arg760Ser)
gnomAD v4
1g.11788164G>TCA416361706C1orf167,MTHFRc.3363G>T (p.Arg1121=)
c.3864G>T (p.Arg1288Ser)
c.*2516C>A (n.*2516C>A)
c.1999G>T
c.4610C>A (n.4610C>A)
c.3921G>T (p.Arg1307=)
c.1363G>T
c.1178-79G>T
n.237-79G>T
c.3999G>T (p.Arg1333Ser)
c.3945G>T (p.Arg1315Ser)
c.3984-79G>T (n.3984-79G>T)
c.3591G>T (p.Arg1197Ser)
c.2280G>T (p.Arg760Ser)
dbSNP
1g.11788165A>CCA338470064C1orf167,MTHFRc.3364A>C (p.Ile1122Leu)
c.3865A>C (p.Ile1289Leu)
c.*2515T>G (n.*2515T>G)
c.2000A>C
c.4609T>G (n.4609T>G)
c.3922A>C (p.Ile1308Leu)
c.1364A>C
c.1178-78A>C
n.237-78A>C
c.4000A>C (p.Ile1334Leu)
c.3946A>C (p.Ile1316Leu)
c.3984-78A>C (n.3984-78A>C)
c.3592A>C (p.Ile1198Leu)
c.2281A>C (p.Ile761Leu)
gnomAD v4
1g.11788165A>GCA338470065C1orf167,MTHFRc.3364A>G (p.Ile1122Val)
c.3865A>G (p.Ile1289Val)
c.*2515T>C (n.*2515T>C)
c.2000A>G
c.4609T>C (n.4609T>C)
c.3922A>G (p.Ile1308Val)
c.1364A>G
c.1178-78A>G
n.237-78A>G
c.4000A>G (p.Ile1334Val)
c.3946A>G (p.Ile1316Val)
c.3984-78A>G (n.3984-78A>G)
c.3592A>G (p.Ile1198Val)
c.2281A>G (p.Ile761Val)
1g.11788165A>TCA338470066C1orf167,MTHFRc.3364A>T (p.Ile1122Phe)
c.3865A>T (p.Ile1289Phe)
c.*2515T>A (n.*2515T>A)
c.2000A>T
c.4609T>A (n.4609T>A)
c.3922A>T (p.Ile1308Phe)
c.1364A>T
c.1178-78A>T
n.237-78A>T
c.4000A>T (p.Ile1334Phe)
c.3946A>T (p.Ile1316Phe)
c.3984-78A>T (n.3984-78A>T)
c.3592A>T (p.Ile1198Phe)
c.2281A>T (p.Ile761Phe)
1g.11788166T>ACA338470068C1orf167,MTHFRc.3365T>A (p.Ile1122Asn)
c.3866T>A (p.Ile1289Asn)
c.*2514A>T (n.*2514A>T)
c.2001T>A
c.4608A>T (n.4608A>T)
c.3923T>A (p.Ile1308Asn)
c.1365T>A
c.1178-77T>A
n.237-77T>A
c.4001T>A (p.Ile1334Asn)
c.3947T>A (p.Ile1316Asn)
c.3984-77T>A (n.3984-77T>A)
c.3593T>A (p.Ile1198Asn)
c.2282T>A (p.Ile761Asn)
1g.11788166T>CCA338470069C1orf167,MTHFRc.3365T>C (p.Ile1122Thr)
c.3866T>C (p.Ile1289Thr)
c.*2514A>G (n.*2514A>G)
c.2001T>C
c.4608A>G (n.4608A>G)
c.3923T>C (p.Ile1308Thr)
c.1365T>C
c.1178-77T>C
n.237-77T>C
c.4001T>C (p.Ile1334Thr)
c.3947T>C (p.Ile1316Thr)
c.3984-77T>C (n.3984-77T>C)
c.3593T>C (p.Ile1198Thr)
c.2282T>C (p.Ile761Thr)
1g.11788166T>GCA338470067C1orf167,MTHFRc.3365T>G (p.Ile1122Ser)
c.3866T>G (p.Ile1289Ser)
c.*2514A>C (n.*2514A>C)
c.2001T>G
c.4608A>C (n.4608A>C)
c.3923T>G (p.Ile1308Ser)
c.1365T>G
c.1178-77T>G
n.237-77T>G
c.4001T>G (p.Ile1334Ser)
c.3947T>G (p.Ile1316Ser)
c.3984-77T>G (n.3984-77T>G)
c.3593T>G (p.Ile1198Ser)
c.2282T>G (p.Ile761Ser)
1g.11788167C>ACA416361707C1orf167,MTHFRc.3366C>A (p.Ile1122=)
c.3867C>A (p.Ile1289=)
c.*2513G>T (n.*2513G>T)
c.2002C>A
c.4607G>T (n.4607G>T)
c.3924C>A (p.Ile1308=)
c.1366C>A
c.1178-76C>A
n.237-76C>A
c.4002C>A (p.Ile1334=)
c.3948C>A (p.Ile1316=)
c.3984-76C>A (n.3984-76C>A)
c.3594C>A (p.Ile1198=)
c.2283C>A (p.Ile761=)
gnomAD v4
1g.11788167C=CA1153786882C1orf167,MTHFRc.3366C= (p.Ile1122=)
c.3867C= (p.Ile1289=)
c.*2513G= (n.*2513G=)
c.2002C=
c.4607G= (n.4607G=)
c.3924C= (p.Ile1308=)
c.1366C=
c.1178-76C=
n.237-76C=
c.4002C= (p.Ile1334=)
c.3948C= (p.Ile1316=)
c.3984-76C= (n.3984-76C=)
c.3594C= (p.Ile1198=)
c.2283C= (p.Ile761=)
1g.11788167C>GCA338470070C1orf167,MTHFRc.3366C>G (p.Ile1122Met)
c.3867C>G (p.Ile1289Met)
c.*2513G>C (n.*2513G>C)
c.2002C>G
c.4607G>C (n.4607G>C)
c.3924C>G (p.Ile1308Met)
c.1366C>G
c.1178-76C>G
n.237-76C>G
c.4002C>G (p.Ile1334Met)
c.3948C>G (p.Ile1316Met)
c.3984-76C>G (n.3984-76C>G)
c.3594C>G (p.Ile1198Met)
c.2283C>G (p.Ile761Met)
dbSNP gnomAD v3 gnomAD v4
1g.11788167C>TCA416361708C1orf167,MTHFRc.3366C>T (p.Ile1122=)
c.3867C>T (p.Ile1289=)
c.*2513G>A (n.*2513G>A)
c.2002C>T
c.4607G>A (n.4607G>A)
c.3924C>T (p.Ile1308=)
c.1366C>T
c.1178-76C>T
n.237-76C>T
c.4002C>T (p.Ile1334=)
c.3948C>T (p.Ile1316=)
c.3984-76C>T (n.3984-76C>T)
c.3594C>T (p.Ile1198=)
c.2283C>T (p.Ile761=)
gnomAD v4
1g.11788168C>ACA338470071C1orf167,MTHFRc.3367C>A (p.Leu1123Met)
c.3868C>A (p.Leu1290Met)
c.*2512G>T (n.*2512G>T)
c.2003C>A
c.4606G>T (n.4606G>T)
c.3925C>A (p.Leu1309Met)
c.1367C>A
c.1178-75C>A
n.237-75C>A
c.4003C>A (p.Leu1335Met)
c.3949C>A (p.Leu1317Met)
c.3984-75C>A (n.3984-75C>A)
c.3595C>A (p.Leu1199Met)
c.2284C>A (p.Leu762Met)
gnomAD v4
1g.11788168C>GCA338470072C1orf167,MTHFRc.3367C>G (p.Leu1123Val)
c.3868C>G (p.Leu1290Val)
c.*2512G>C (n.*2512G>C)
c.2003C>G
c.4606G>C (n.4606G>C)
c.3925C>G (p.Leu1309Val)
c.1367C>G
c.1178-75C>G
n.237-75C>G
c.4003C>G (p.Leu1335Val)
c.3949C>G (p.Leu1317Val)
c.3984-75C>G (n.3984-75C>G)
c.3595C>G (p.Leu1199Val)
c.2284C>G (p.Leu762Val)
1g.11788168C>TCA416361709C1orf167,MTHFRc.3367C>T (p.Leu1123=)
c.3868C>T (p.Leu1290=)
c.*2512G>A (n.*2512G>A)
c.2003C>T
c.4606G>A (n.4606G>A)
c.3925C>T (p.Leu1309=)
c.1367C>T
c.1178-75C>T
n.237-75C>T
c.4003C>T (p.Leu1335=)
c.3949C>T (p.Leu1317=)
c.3984-75C>T (n.3984-75C>T)
c.3595C>T (p.Leu1199=)
c.2284C>T (p.Leu762=)
1g.11788169T>ACA338470073C1orf167,MTHFRc.3368T>A (p.Leu1123Gln)
c.3869T>A (p.Leu1290Gln)
c.*2511A>T (n.*2511A>T)
c.2004T>A
c.4605A>T (n.4605A>T)
c.3926T>A (p.Leu1309Gln)
c.1368T>A
c.1178-74T>A
n.237-74T>A
c.4004T>A (p.Leu1335Gln)
c.3950T>A (p.Leu1317Gln)
c.3984-74T>A (n.3984-74T>A)
c.3596T>A (p.Leu1199Gln)
c.2285T>A (p.Leu762Gln)
1g.11788169T>CCA338470074C1orf167,MTHFRc.3368T>C (p.Leu1123Pro)
c.3869T>C (p.Leu1290Pro)
c.*2511A>G (n.*2511A>G)
c.2004T>C
c.4605A>G (n.4605A>G)
c.3926T>C (p.Leu1309Pro)
c.1368T>C
c.1178-74T>C
n.237-74T>C
c.4004T>C (p.Leu1335Pro)
c.3950T>C (p.Leu1317Pro)
c.3984-74T>C (n.3984-74T>C)
c.3596T>C (p.Leu1199Pro)
c.2285T>C (p.Leu762Pro)
gnomAD v4
1g.11788169T>GCA338470075C1orf167,MTHFRc.3368T>G (p.Leu1123Arg)
c.3869T>G (p.Leu1290Arg)
c.*2511A>C (n.*2511A>C)
c.2004T>G
c.4605A>C (n.4605A>C)
c.3926T>G (p.Leu1309Arg)
c.1368T>G
c.1178-74T>G
n.237-74T>G
c.4004T>G (p.Leu1335Arg)
c.3950T>G (p.Leu1317Arg)
c.3984-74T>G (n.3984-74T>G)
c.3596T>G (p.Leu1199Arg)
c.2285T>G (p.Leu762Arg)
1g.11788170G>ACA595075C1orf167,MTHFRc.3369G>A (p.Leu1123=)
c.3870G>A (p.Leu1290=)
c.*2510C>T (n.*2510C>T)
c.2005G>A
c.4604C>T (n.4604C>T)
c.3927G>A (p.Leu1309=)
c.1369G>A
c.1178-73G>A
n.237-73G>A
c.4005G>A (p.Leu1335=)
c.3951G>A (p.Leu1317=)
c.3984-73G>A (n.3984-73G>A)
c.3597G>A (p.Leu1199=)
c.2286G>A (p.Leu762=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11788170G>CCA416361710C1orf167,MTHFRc.3369G>C (p.Leu1123=)
c.3870G>C (p.Leu1290=)
c.*2510C>G (n.*2510C>G)
c.2005G>C
c.4604C>G (n.4604C>G)
c.3927G>C (p.Leu1309=)
c.1369G>C
c.1178-73G>C
n.237-73G>C
c.4005G>C (p.Leu1335=)
c.3951G>C (p.Leu1317=)
c.3984-73G>C (n.3984-73G>C)
c.3597G>C (p.Leu1199=)
c.2286G>C (p.Leu762=)
dbSNP gnomAD v2 gnomAD v4
1g.11788170G=CA1146584869C1orf167,MTHFRc.3369G= (p.Leu1123=)
c.3870G= (p.Leu1290=)
c.*2510C= (n.*2510C=)
c.2005G=
c.4604C= (n.4604C=)
c.3927G= (p.Leu1309=)
c.1369G=
c.1178-73G=
n.237-73G=
c.4005G= (p.Leu1335=)
c.3951G= (p.Leu1317=)
c.3984-73G= (n.3984-73G=)
c.3597G= (p.Leu1199=)
c.2286G= (p.Leu762=)
1g.11788170G>TCA416361711C1orf167,MTHFRc.3369G>T (p.Leu1123=)
c.3870G>T (p.Leu1290=)
c.*2510C>A (n.*2510C>A)
c.2005G>T
c.4604C>A (n.4604C>A)
c.3927G>T (p.Leu1309=)
c.1369G>T
c.1178-73G>T
n.237-73G>T
c.4005G>T (p.Leu1335=)
c.3951G>T (p.Leu1317=)
c.3984-73G>T (n.3984-73G>T)
c.3597G>T (p.Leu1199=)
c.2286G>T (p.Leu762=)
1g.11788171G>ACA338470076C1orf167,MTHFRc.3370G>A (p.Glu1124Lys)
c.3871G>A (p.Glu1291Lys)
c.*2509C>T (n.*2509C>T)
c.2006G>A
c.4603C>T (n.4603C>T)
c.3928G>A (p.Glu1310Lys)
c.1370G>A
c.1178-72G>A
n.237-72G>A
c.4006G>A (p.Glu1336Lys)
c.3952G>A (p.Glu1318Lys)
c.3984-72G>A (n.3984-72G>A)
c.3598G>A (p.Glu1200Lys)
c.2287G>A (p.Glu763Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788171G>CCA338470077C1orf167,MTHFRc.3370G>C (p.Glu1124Gln)
c.3871G>C (p.Glu1291Gln)
c.*2509C>G (n.*2509C>G)
c.2006G>C
c.4603C>G (n.4603C>G)
c.3928G>C (p.Glu1310Gln)
c.1370G>C
c.1178-72G>C
n.237-72G>C
c.4006G>C (p.Glu1336Gln)
c.3952G>C (p.Glu1318Gln)
c.3984-72G>C (n.3984-72G>C)
c.3598G>C (p.Glu1200Gln)
c.2287G>C (p.Glu763Gln)
1g.11788171G=CA1153786892C1orf167,MTHFRc.3370G= (p.Glu1124=)
c.3871G= (p.Glu1291=)
c.*2509C= (n.*2509C=)
c.2006G=
c.4603C= (n.4603C=)
c.3928G= (p.Glu1310=)
c.1370G=
c.1178-72G=
n.237-72G=
c.4006G= (p.Glu1336=)
c.3952G= (p.Glu1318=)
c.3984-72G= (n.3984-72G=)
c.3598G= (p.Glu1200=)
c.2287G= (p.Glu763=)
1g.11788171G>TCA338470078C1orf167,MTHFRc.3370G>T (p.Glu1124Ter)
c.3871G>T (p.Glu1291Ter)
c.*2509C>A (n.*2509C>A)
c.2006G>T
c.4603C>A (n.4603C>A)
c.3928G>T (p.Glu1310Ter)
c.1370G>T
c.1178-72G>T
n.237-72G>T
c.4006G>T (p.Glu1336Ter)
c.3952G>T (p.Glu1318Ter)
c.3984-72G>T (n.3984-72G>T)
c.3598G>T (p.Glu1200Ter)
c.2287G>T (p.Glu763Ter)
gnomAD v4
1g.11788172A>CCA338470079C1orf167,MTHFRc.3371A>C (p.Glu1124Ala)
c.3872A>C (p.Glu1291Ala)
c.*2508T>G (n.*2508T>G)
c.2007A>C
c.4602T>G (n.4602T>G)
c.3929A>C (p.Glu1310Ala)
c.1371A>C
c.1178-71A>C
n.237-71A>C
c.4007A>C (p.Glu1336Ala)
c.3953A>C (p.Glu1318Ala)
c.3984-71A>C (n.3984-71A>C)
c.3599A>C (p.Glu1200Ala)
c.2288A>C (p.Glu763Ala)
1g.11788172A>GCA338470080C1orf167,MTHFRc.3371A>G (p.Glu1124Gly)
c.3872A>G (p.Glu1291Gly)
c.*2508T>C (n.*2508T>C)
c.2007A>G
c.4602T>C (n.4602T>C)
c.3929A>G (p.Glu1310Gly)
c.1371A>G
c.1178-71A>G
n.237-71A>G
c.4007A>G (p.Glu1336Gly)
c.3953A>G (p.Glu1318Gly)
c.3984-71A>G (n.3984-71A>G)
c.3599A>G (p.Glu1200Gly)
c.2288A>G (p.Glu763Gly)
1g.11788172A>TCA338470081C1orf167,MTHFRc.3371A>T (p.Glu1124Val)
c.3872A>T (p.Glu1291Val)
c.*2508T>A (n.*2508T>A)
c.2007A>T
c.4602T>A (n.4602T>A)
c.3929A>T (p.Glu1310Val)
c.1371A>T
c.1178-71A>T
n.237-71A>T
c.4007A>T (p.Glu1336Val)
c.3953A>T (p.Glu1318Val)
c.3984-71A>T (n.3984-71A>T)
c.3599A>T (p.Glu1200Val)
c.2288A>T (p.Glu763Val)
1g.11788175delCA2643295629C1orf167,MTHFRc.3374del (p.Lys1125SerfsTer14)
c.3875del (p.Lys1292SerfsTer14)
c.*2508del (n.*2508del)
c.2010del
c.4602del (n.4602del)
c.3932del (p.Lys1311SerfsTer14)
c.1374del
c.1178-68del
n.237-68del
c.4010del (p.Lys1337SerfsTer14)
c.3956del (p.Lys1319SerfsTer14)
c.3984-68del (n.3984-68del)
c.3602del (p.Lys1201SerfsTer14)
c.2291del (p.Lys764SerfsTer14)
gnomAD v4
1g.11788173A=CA1153786899C1orf167,MTHFRc.3372A= (p.Glu1124=)
c.3873A= (p.Glu1291=)
c.*2507T= (n.*2507T=)
c.2008A=
c.4601T= (n.4601T=)
c.3930A= (p.Glu1310=)
c.1372A=
c.1178-70A=
n.237-70A=
c.4008A= (p.Glu1336=)
c.3954A= (p.Glu1318=)
c.3984-70A= (n.3984-70A=)
c.3600A= (p.Glu1200=)
c.2289A= (p.Glu763=)
1g.11788173A>CCA338470083C1orf167,MTHFRc.3372A>C (p.Glu1124Asp)
c.3873A>C (p.Glu1291Asp)
c.*2507T>G (n.*2507T>G)
c.2008A>C
c.4601T>G (n.4601T>G)
c.3930A>C (p.Glu1310Asp)
c.1372A>C
c.1178-70A>C
n.237-70A>C
c.4008A>C (p.Glu1336Asp)
c.3954A>C (p.Glu1318Asp)
c.3984-70A>C (n.3984-70A>C)
c.3600A>C (p.Glu1200Asp)
c.2289A>C (p.Glu763Asp)
1g.11788173A>GCA416361712C1orf167,MTHFRc.3372A>G (p.Glu1124=)
c.3873A>G (p.Glu1291=)
c.*2507T>C (n.*2507T>C)
c.2008A>G
c.4601T>C (n.4601T>C)
c.3930A>G (p.Glu1310=)
c.1372A>G
c.1178-70A>G
n.237-70A>G
c.4008A>G (p.Glu1336=)
c.3954A>G (p.Glu1318=)
c.3984-70A>G (n.3984-70A>G)
c.3600A>G (p.Glu1200=)
c.2289A>G (p.Glu763=)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.11788173A>TCA338470082C1orf167,MTHFRc.3372A>T (p.Glu1124Asp)
c.3873A>T (p.Glu1291Asp)
c.*2507T>A (n.*2507T>A)
c.2008A>T
c.4601T>A (n.4601T>A)
c.3930A>T (p.Glu1310Asp)
c.1372A>T
c.1178-70A>T
n.237-70A>T
c.4008A>T (p.Glu1336Asp)
c.3954A>T (p.Glu1318Asp)
c.3984-70A>T (n.3984-70A>T)
c.3600A>T (p.Glu1200Asp)
c.2289A>T (p.Glu763Asp)
1g.11788174A>CCA338470084C1orf167,MTHFRc.3373A>C (p.Lys1125Gln)
c.3874A>C (p.Lys1292Gln)
c.*2506T>G (n.*2506T>G)
c.2009A>C
c.4600T>G (n.4600T>G)
c.3931A>C (p.Lys1311Gln)
c.1373A>C
c.1178-69A>C
n.237-69A>C
c.4009A>C (p.Lys1337Gln)
c.3955A>C (p.Lys1319Gln)
c.3984-69A>C (n.3984-69A>C)
c.3601A>C (p.Lys1201Gln)
c.2290A>C (p.Lys764Gln)
1g.11788174A>GCA338470085C1orf167,MTHFRc.3373A>G (p.Lys1125Glu)
c.3874A>G (p.Lys1292Glu)
c.*2506T>C (n.*2506T>C)
c.2009A>G
c.4600T>C (n.4600T>C)
c.3931A>G (p.Lys1311Glu)
c.1373A>G
c.1178-69A>G
n.237-69A>G
c.4009A>G (p.Lys1337Glu)
c.3955A>G (p.Lys1319Glu)
c.3984-69A>G (n.3984-69A>G)
c.3601A>G (p.Lys1201Glu)
c.2290A>G (p.Lys764Glu)
1g.11788174A>TCA338470086C1orf167,MTHFRc.3373A>T (p.Lys1125Ter)
c.3874A>T (p.Lys1292Ter)
c.*2506T>A (n.*2506T>A)
c.2009A>T
c.4600T>A (n.4600T>A)
c.3931A>T (p.Lys1311Ter)
c.1373A>T
c.1178-69A>T
n.237-69A>T
c.4009A>T (p.Lys1337Ter)
c.3955A>T (p.Lys1319Ter)
c.3984-69A>T (n.3984-69A>T)
c.3601A>T (p.Lys1201Ter)
c.2290A>T (p.Lys764Ter)
1g.11788175A>CCA338470087C1orf167,MTHFRc.3374A>C (p.Lys1125Thr)
c.3875A>C (p.Lys1292Thr)
c.*2505T>G (n.*2505T>G)
c.2010A>C
c.4599T>G (n.4599T>G)
c.3932A>C (p.Lys1311Thr)
c.1374A>C
c.1178-68A>C
n.237-68A>C
c.4010A>C (p.Lys1337Thr)
c.3956A>C (p.Lys1319Thr)
c.3984-68A>C (n.3984-68A>C)
c.3602A>C (p.Lys1201Thr)
c.2291A>C (p.Lys764Thr)
1g.11788175A>GCA338470088C1orf167,MTHFRc.3374A>G (p.Lys1125Arg)
c.3875A>G (p.Lys1292Arg)
c.*2505T>C (n.*2505T>C)
c.2010A>G
c.4599T>C (n.4599T>C)
c.3932A>G (p.Lys1311Arg)
c.1374A>G
c.1178-68A>G
n.237-68A>G
c.4010A>G (p.Lys1337Arg)
c.3956A>G (p.Lys1319Arg)
c.3984-68A>G (n.3984-68A>G)
c.3602A>G (p.Lys1201Arg)
c.2291A>G (p.Lys764Arg)
1g.11788175A>TCA338470089C1orf167,MTHFRc.3374A>T (p.Lys1125Met)
c.3875A>T (p.Lys1292Met)
c.*2505T>A (n.*2505T>A)
c.2010A>T
c.4599T>A (n.4599T>A)
c.3932A>T (p.Lys1311Met)
c.1374A>T
c.1178-68A>T
n.237-68A>T
c.4010A>T (p.Lys1337Met)
c.3956A>T (p.Lys1319Met)
c.3984-68A>T (n.3984-68A>T)
c.3602A>T (p.Lys1201Met)
c.2291A>T (p.Lys764Met)
1g.11788176G>ACA416361713C1orf167,MTHFRc.3375G>A (p.Lys1125=)
c.3876G>A (p.Lys1292=)
c.*2504C>T (n.*2504C>T)
c.2011G>A
c.4598C>T (n.4598C>T)
c.3933G>A (p.Lys1311=)
c.1375G>A
c.1178-67G>A
n.237-67G>A
c.4011G>A (p.Lys1337=)
c.3957G>A (p.Lys1319=)
c.3984-67G>A (n.3984-67G>A)
c.3603G>A (p.Lys1201=)
c.2292G>A (p.Lys764=)
1g.11788176G>CCA338470090C1orf167,MTHFRc.3375G>C (p.Lys1125Asn)
c.3876G>C (p.Lys1292Asn)
c.*2504C>G (n.*2504C>G)
c.2011G>C
c.4598C>G (n.4598C>G)
c.3933G>C (p.Lys1311Asn)
c.1375G>C
c.1178-67G>C
n.237-67G>C
c.4011G>C (p.Lys1337Asn)
c.3957G>C (p.Lys1319Asn)
c.3984-67G>C (n.3984-67G>C)
c.3603G>C (p.Lys1201Asn)
c.2292G>C (p.Lys764Asn)
dbSNP
1g.11788176G=CA1153786906C1orf167,MTHFRc.3375G= (p.Lys1125=)
c.3876G= (p.Lys1292=)
c.*2504C= (n.*2504C=)
c.2011G=
c.4598C= (n.4598C=)
c.3933G= (p.Lys1311=)
c.1375G=
c.1178-67G=
n.237-67G=
c.4011G= (p.Lys1337=)
c.3957G= (p.Lys1319=)
c.3984-67G= (n.3984-67G=)
c.3603G= (p.Lys1201=)
c.2292G= (p.Lys764=)
1g.11788176G>TCA338470091C1orf167,MTHFRc.3375G>T (p.Lys1125Asn)
c.3876G>T (p.Lys1292Asn)
c.*2504C>A (n.*2504C>A)
c.2011G>T
c.4598C>A (n.4598C>A)
c.3933G>T (p.Lys1311Asn)
c.1375G>T
c.1178-67G>T
n.237-67G>T
c.4011G>T (p.Lys1337Asn)
c.3957G>T (p.Lys1319Asn)
c.3984-67G>T (n.3984-67G>T)
c.3603G>T (p.Lys1201Asn)
c.2292G>T (p.Lys764Asn)
gnomAD v4
1g.11788177C>ACA338470092C1orf167,MTHFRc.3376C>A (p.Gln1126Lys)
c.3877C>A (p.Gln1293Lys)
c.*2503G>T (n.*2503G>T)
c.2012C>A
c.4597G>T (n.4597G>T)
c.3934C>A (p.Gln1312Lys)
c.1376C>A
c.1178-66C>A
n.237-66C>A
c.4012C>A (p.Gln1338Lys)
c.3958C>A (p.Gln1320Lys)
c.3984-66C>A (n.3984-66C>A)
c.3604C>A (p.Gln1202Lys)
c.2293C>A (p.Gln765Lys)
1g.11788177C=CA1153786911C1orf167,MTHFRc.3376C= (p.Gln1126=)
c.3877C= (p.Gln1293=)
c.*2503G= (n.*2503G=)
c.2012C=
c.4597G= (n.4597G=)
c.3934C= (p.Gln1312=)
c.1376C=
c.1178-66C=
n.237-66C=
c.4012C= (p.Gln1338=)
c.3958C= (p.Gln1320=)
c.3984-66C= (n.3984-66C=)
c.3604C= (p.Gln1202=)
c.2293C= (p.Gln765=)
1g.11788177C>GCA338470093C1orf167,MTHFRc.3376C>G (p.Gln1126Glu)
c.3877C>G (p.Gln1293Glu)
c.*2503G>C (n.*2503G>C)
c.2012C>G
c.4597G>C (n.4597G>C)
c.3934C>G (p.Gln1312Glu)
c.1376C>G
c.1178-66C>G
n.237-66C>G
c.4012C>G (p.Gln1338Glu)
c.3958C>G (p.Gln1320Glu)
c.3984-66C>G (n.3984-66C>G)
c.3604C>G (p.Gln1202Glu)
c.2293C>G (p.Gln765Glu)
1g.11788177C>TCA17996185C1orf167,MTHFRc.3376C>T (p.Gln1126Ter)
c.3877C>T (p.Gln1293Ter)
c.*2503G>A (n.*2503G>A)
c.2012C>T
c.4597G>A (n.4597G>A)
c.3934C>T (p.Gln1312Ter)
c.1376C>T
c.1178-66C>T
n.237-66C>T
c.4012C>T (p.Gln1338Ter)
c.3958C>T (p.Gln1320Ter)
c.3984-66C>T (n.3984-66C>T)
c.3604C>T (p.Gln1202Ter)
c.2293C>T (p.Gln765Ter)
dbSNP gnomAD v2 gnomAD v4
1g.11788185_11788190dupCA521454912C1orf167,MTHFRc.3384_3389dup (p.Ala1129_His1130insGlnAla)
c.3885_3890dup (p.Ala1296_His1297insGlnAla)
c.*2498_*2503dup (n.*2498_*2503dup)
c.2020_2025dup
c.4592_4597dup (n.4592_4597dup)
c.3942_3947dup (p.Ala1315_His1316insGlnAla)
c.1384_1389dup
c.1178-58_1178-53dup
n.237-58_237-53dup
c.4020_4025dup (p.Ala1341_His1342insGlnAla)
c.3966_3971dup (p.Ala1323_His1324insGlnAla)
c.3984-58_3984-53dup (n.3984-58_3984-53dup)
c.3612_3617dup (p.Ala1205_His1206insGlnAla)
c.2301_2306dup (p.Ala768_His769insGlnAla)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788178A=CA1153786916C1orf167,MTHFRc.3377A= (p.Gln1126=)
c.3878A= (p.Gln1293=)
c.*2502T= (n.*2502T=)
c.2013A=
c.4596T= (n.4596T=)
c.3935A= (p.Gln1312=)
c.1377A=
c.1178-65A=
n.237-65A=
c.4013A= (p.Gln1338=)
c.3959A= (p.Gln1320=)
c.3984-65A= (n.3984-65A=)
c.3605A= (p.Gln1202=)
c.2294A= (p.Gln765=)
1g.11788178A>CCA338470094C1orf167,MTHFRc.3377A>C (p.Gln1126Pro)
c.3878A>C (p.Gln1293Pro)
c.*2502T>G (n.*2502T>G)
c.2013A>C
c.4596T>G (n.4596T>G)
c.3935A>C (p.Gln1312Pro)
c.1377A>C
c.1178-65A>C
n.237-65A>C
c.4013A>C (p.Gln1338Pro)
c.3959A>C (p.Gln1320Pro)
c.3984-65A>C (n.3984-65A>C)
c.3605A>C (p.Gln1202Pro)
c.2294A>C (p.Gln765Pro)
1g.11788178A>GCA338470095C1orf167,MTHFRc.3377A>G (p.Gln1126Arg)
c.3878A>G (p.Gln1293Arg)
c.*2502T>C (n.*2502T>C)
c.2013A>G
c.4596T>C (n.4596T>C)
c.3935A>G (p.Gln1312Arg)
c.1377A>G
c.1178-65A>G
n.237-65A>G
c.4013A>G (p.Gln1338Arg)
c.3959A>G (p.Gln1320Arg)
c.3984-65A>G (n.3984-65A>G)
c.3605A>G (p.Gln1202Arg)
c.2294A>G (p.Gln765Arg)
dbSNP gnomAD v2 gnomAD v4
1g.11788178A>TCA338470096C1orf167,MTHFRc.3377A>T (p.Gln1126Leu)
c.3878A>T (p.Gln1293Leu)
c.*2502T>A (n.*2502T>A)
c.2013A>T
c.4596T>A (n.4596T>A)
c.3935A>T (p.Gln1312Leu)
c.1377A>T
c.1178-65A>T
n.237-65A>T
c.4013A>T (p.Gln1338Leu)
c.3959A>T (p.Gln1320Leu)
c.3984-65A>T (n.3984-65A>T)
c.3605A>T (p.Gln1202Leu)
c.2294A>T (p.Gln765Leu)
1g.11788179G>ACA416361714C1orf167,MTHFRc.3378G>A (p.Gln1126=)
c.3879G>A (p.Gln1293=)
c.*2501C>T (n.*2501C>T)
c.2014G>A
c.4595C>T (n.4595C>T)
c.3936G>A (p.Gln1312=)
c.1378G>A
c.1178-64G>A
n.237-64G>A
c.4014G>A (p.Gln1338=)
c.3960G>A (p.Gln1320=)
c.3984-64G>A (n.3984-64G>A)
c.3606G>A (p.Gln1202=)
c.2295G>A (p.Gln765=)
gnomAD v4
1g.11788179G>CCA338470098C1orf167,MTHFRc.3378G>C (p.Gln1126His)
c.3879G>C (p.Gln1293His)
c.*2501C>G (n.*2501C>G)
c.2014G>C
c.4595C>G (n.4595C>G)
c.3936G>C (p.Gln1312His)
c.1378G>C
c.1178-64G>C
n.237-64G>C
c.4014G>C (p.Gln1338His)
c.3960G>C (p.Gln1320His)
c.3984-64G>C (n.3984-64G>C)
c.3606G>C (p.Gln1202His)
c.2295G>C (p.Gln765His)
1g.11788179G>TCA338470097C1orf167,MTHFRc.3378G>T (p.Gln1126His)
c.3879G>T (p.Gln1293His)
c.*2501C>A (n.*2501C>A)
c.2014G>T
c.4595C>A (n.4595C>A)
c.3936G>T (p.Gln1312His)
c.1378G>T
c.1178-64G>T
n.237-64G>T
c.4014G>T (p.Gln1338His)
c.3960G>T (p.Gln1320His)
c.3984-64G>T (n.3984-64G>T)
c.3606G>T (p.Gln1202His)
c.2295G>T (p.Gln765His)
1g.11788180G>ACA17996189C1orf167,MTHFRc.3379G>A (p.Ala1127Thr)
c.3880G>A (p.Ala1294Thr)
c.*2500C>T (n.*2500C>T)
c.2015G>A
c.4594C>T (n.4594C>T)
c.3937G>A (p.Ala1313Thr)
c.1379G>A
c.1178-63G>A
n.237-63G>A
c.4015G>A (p.Ala1339Thr)
c.3961G>A (p.Ala1321Thr)
c.3984-63G>A (n.3984-63G>A)
c.3607G>A (p.Ala1203Thr)
c.2296G>A (p.Ala766Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788180G>CCA338470100C1orf167,MTHFRc.3379G>C (p.Ala1127Pro)
c.3880G>C (p.Ala1294Pro)
c.*2500C>G (n.*2500C>G)
c.2015G>C
c.4594C>G (n.4594C>G)
c.3937G>C (p.Ala1313Pro)
c.1379G>C
c.1178-63G>C
n.237-63G>C
c.4015G>C (p.Ala1339Pro)
c.3961G>C (p.Ala1321Pro)
c.3984-63G>C (n.3984-63G>C)
c.3607G>C (p.Ala1203Pro)
c.2296G>C (p.Ala766Pro)
1g.11788180G=CA1153786919C1orf167,MTHFRc.3379G= (p.Ala1127=)
c.3880G= (p.Ala1294=)
c.*2500C= (n.*2500C=)
c.2015G=
c.4594C= (n.4594C=)
c.3937G= (p.Ala1313=)
c.1379G=
c.1178-63G=
n.237-63G=
c.4015G= (p.Ala1339=)
c.3961G= (p.Ala1321=)
c.3984-63G= (n.3984-63G=)
c.3607G= (p.Ala1203=)
c.2296G= (p.Ala766=)
1g.11788180G>TCA338470099C1orf167,MTHFRc.3379G>T (p.Ala1127Ser)
c.3880G>T (p.Ala1294Ser)
c.*2500C>A (n.*2500C>A)
c.2015G>T
c.4594C>A (n.4594C>A)
c.3937G>T (p.Ala1313Ser)
c.1379G>T
c.1178-63G>T
n.237-63G>T
c.4015G>T (p.Ala1339Ser)
c.3961G>T (p.Ala1321Ser)
c.3984-63G>T (n.3984-63G>T)
c.3607G>T (p.Ala1203Ser)
c.2296G>T (p.Ala766Ser)
1g.11788181C>ACA338470101C1orf167,MTHFRc.3380C>A (p.Ala1127Asp)
c.3881C>A (p.Ala1294Asp)
c.*2499G>T (n.*2499G>T)
c.2016C>A
c.4593G>T (n.4593G>T)
c.3938C>A (p.Ala1313Asp)
c.1380C>A
c.1178-62C>A
n.237-62C>A
c.4016C>A (p.Ala1339Asp)
c.3962C>A (p.Ala1321Asp)
c.3984-62C>A (n.3984-62C>A)
c.3608C>A (p.Ala1203Asp)
c.2297C>A (p.Ala766Asp)
1g.11788181C>GCA338470102C1orf167,MTHFRc.3380C>G (p.Ala1127Gly)
c.3881C>G (p.Ala1294Gly)
c.*2499G>C (n.*2499G>C)
c.2016C>G
c.4593G>C (n.4593G>C)
c.3938C>G (p.Ala1313Gly)
c.1380C>G
c.1178-62C>G
n.237-62C>G
c.4016C>G (p.Ala1339Gly)
c.3962C>G (p.Ala1321Gly)
c.3984-62C>G (n.3984-62C>G)
c.3608C>G (p.Ala1203Gly)
c.2297C>G (p.Ala766Gly)
1g.11788181C>TCA338470103C1orf167,MTHFRc.3380C>T (p.Ala1127Val)
c.3881C>T (p.Ala1294Val)
c.*2499G>A (n.*2499G>A)
c.2016C>T
c.4593G>A (n.4593G>A)
c.3938C>T (p.Ala1313Val)
c.1380C>T
c.1178-62C>T
n.237-62C>T
c.4016C>T (p.Ala1339Val)
c.3962C>T (p.Ala1321Val)
c.3984-62C>T (n.3984-62C>T)
c.3608C>T (p.Ala1203Val)
c.2297C>T (p.Ala766Val)
1g.11788182C>ACA416361715C1orf167,MTHFRc.3381C>A (p.Ala1127=)
c.3882C>A (p.Ala1294=)
c.*2498G>T (n.*2498G>T)
c.2017C>A
c.4592G>T (n.4592G>T)
c.3939C>A (p.Ala1313=)
c.1381C>A
c.1178-61C>A
n.237-61C>A
c.4017C>A (p.Ala1339=)
c.3963C>A (p.Ala1321=)
c.3984-61C>A (n.3984-61C>A)
c.3609C>A (p.Ala1203=)
c.2298C>A (p.Ala766=)
gnomAD v4
1g.11788182C=CA1153786924C1orf167,MTHFRc.3381C= (p.Ala1127=)
c.3882C= (p.Ala1294=)
c.*2498G= (n.*2498G=)
c.2017C=
c.4592G= (n.4592G=)
c.3939C= (p.Ala1313=)
c.1381C=
c.1178-61C=
n.237-61C=
c.4017C= (p.Ala1339=)
c.3963C= (p.Ala1321=)
c.3984-61C= (n.3984-61C=)
c.3609C= (p.Ala1203=)
c.2298C= (p.Ala766=)
1g.11788182C>GCA416361717C1orf167,MTHFRc.3381C>G (p.Ala1127=)
c.3882C>G (p.Ala1294=)
c.*2498G>C (n.*2498G>C)
c.2017C>G
c.4592G>C (n.4592G>C)
c.3939C>G (p.Ala1313=)
c.1381C>G
c.1178-61C>G
n.237-61C>G
c.4017C>G (p.Ala1339=)
c.3963C>G (p.Ala1321=)
c.3984-61C>G (n.3984-61C>G)
c.3609C>G (p.Ala1203=)
c.2298C>G (p.Ala766=)
1g.11788182C>TCA416361716C1orf167,MTHFRc.3381C>T (p.Ala1127=)
c.3882C>T (p.Ala1294=)
c.*2498G>A (n.*2498G>A)
c.2017C>T
c.4592G>A (n.4592G>A)
c.3939C>T (p.Ala1313=)
c.1381C>T
c.1178-61C>T
n.237-61C>T
c.4017C>T (p.Ala1339=)
c.3963C>T (p.Ala1321=)
c.3984-61C>T (n.3984-61C>T)
c.3609C>T (p.Ala1203=)
c.2298C>T (p.Ala766=)
dbSNP gnomAD v3 gnomAD v4
1g.11788183C>ACA338470104C1orf167,MTHFRc.3382C>A (p.Gln1128Lys)
c.3883C>A (p.Gln1295Lys)
c.*2497G>T (n.*2497G>T)
c.2018C>A
c.4591G>T (n.4591G>T)
c.3940C>A (p.Gln1314Lys)
c.1382C>A
c.1178-60C>A
n.237-60C>A
c.4018C>A (p.Gln1340Lys)
c.3964C>A (p.Gln1322Lys)
c.3984-60C>A (n.3984-60C>A)
c.3610C>A (p.Gln1204Lys)
c.2299C>A (p.Gln767Lys)
gnomAD v4
1g.11788183C=CA1147237561C1orf167,MTHFRc.3382C= (p.Gln1128=)
c.3883C= (p.Gln1295=)
c.*2497G= (n.*2497G=)
c.2018C=
c.4591G= (n.4591G=)
c.3940C= (p.Gln1314=)
c.1382C=
c.1178-60C=
n.237-60C=
c.4018C= (p.Gln1340=)
c.3964C= (p.Gln1322=)
c.3984-60C= (n.3984-60C=)
c.3610C= (p.Gln1204=)
c.2299C= (p.Gln767=)
1g.11788183C>GCA338470105C1orf167,MTHFRc.3382C>G (p.Gln1128Glu)
c.3883C>G (p.Gln1295Glu)
c.*2497G>C (n.*2497G>C)
c.2018C>G
c.4591G>C (n.4591G>C)
c.3940C>G (p.Gln1314Glu)
c.1382C>G
c.1178-60C>G
n.237-60C>G
c.4018C>G (p.Gln1340Glu)
c.3964C>G (p.Gln1322Glu)
c.3984-60C>G (n.3984-60C>G)
c.3610C>G (p.Gln1204Glu)
c.2299C>G (p.Gln767Glu)
1g.11788183C>TCA595076C1orf167,MTHFRc.3382C>T (p.Gln1128Ter)
c.3883C>T (p.Gln1295Ter)
c.*2497G>A (n.*2497G>A)
c.2018C>T
c.4591G>A (n.4591G>A)
c.3940C>T (p.Gln1314Ter)
c.1382C>T
c.1178-60C>T
n.237-60C>T
c.4018C>T (p.Gln1340Ter)
c.3964C>T (p.Gln1322Ter)
c.3984-60C>T (n.3984-60C>T)
c.3610C>T (p.Gln1204Ter)
c.2299C>T (p.Gln767Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11788184A>CCA338470106C1orf167,MTHFRc.3383A>C (p.Gln1128Pro)
c.3884A>C (p.Gln1295Pro)
c.*2496T>G (n.*2496T>G)
c.2019A>C
c.4590T>G (n.4590T>G)
c.3941A>C (p.Gln1314Pro)
c.1383A>C
c.1178-59A>C
n.237-59A>C
c.4019A>C (p.Gln1340Pro)
c.3965A>C (p.Gln1322Pro)
c.3984-59A>C (n.3984-59A>C)
c.3611A>C (p.Gln1204Pro)
c.2300A>C (p.Gln767Pro)
gnomAD v4
1g.11788184A>GCA338470107C1orf167,MTHFRc.3383A>G (p.Gln1128Arg)
c.3884A>G (p.Gln1295Arg)
c.*2496T>C (n.*2496T>C)
c.2019A>G
c.4590T>C (n.4590T>C)
c.3941A>G (p.Gln1314Arg)
c.1383A>G
c.1178-59A>G
n.237-59A>G
c.4019A>G (p.Gln1340Arg)
c.3965A>G (p.Gln1322Arg)
c.3984-59A>G (n.3984-59A>G)
c.3611A>G (p.Gln1204Arg)
c.2300A>G (p.Gln767Arg)
gnomAD v4
1g.11788184A>TCA338470108C1orf167,MTHFRc.3383A>T (p.Gln1128Leu)
c.3884A>T (p.Gln1295Leu)
c.*2496T>A (n.*2496T>A)
c.2019A>T
c.4590T>A (n.4590T>A)
c.3941A>T (p.Gln1314Leu)
c.1383A>T
c.1178-59A>T
n.237-59A>T
c.4019A>T (p.Gln1340Leu)
c.3965A>T (p.Gln1322Leu)
c.3984-59A>T (n.3984-59A>T)
c.3611A>T (p.Gln1204Leu)
c.2300A>T (p.Gln767Leu)
gnomAD v4
1g.11788185G>ACA416361718C1orf167,MTHFRc.3384G>A (p.Gln1128=)
c.3885G>A (p.Gln1295=)
c.*2495C>T (n.*2495C>T)
c.2020G>A
c.4589C>T (n.4589C>T)
c.3942G>A (p.Gln1314=)
c.1384G>A
c.1178-58G>A
n.237-58G>A
c.4020G>A (p.Gln1340=)
c.3966G>A (p.Gln1322=)
c.3984-58G>A (n.3984-58G>A)
c.3612G>A (p.Gln1204=)
c.2301G>A (p.Gln767=)
1g.11788185G>CCA338470109C1orf167,MTHFRc.3384G>C (p.Gln1128His)
c.3885G>C (p.Gln1295His)
c.*2495C>G (n.*2495C>G)
c.2020G>C
c.4589C>G (n.4589C>G)
c.3942G>C (p.Gln1314His)
c.1384G>C
c.1178-58G>C
n.237-58G>C
c.4020G>C (p.Gln1340His)
c.3966G>C (p.Gln1322His)
c.3984-58G>C (n.3984-58G>C)
c.3612G>C (p.Gln1204His)
c.2301G>C (p.Gln767His)
dbSNP gnomAD v2 gnomAD v4
1g.11788185G=CA1153786937C1orf167,MTHFRc.3384G= (p.Gln1128=)
c.3885G= (p.Gln1295=)
c.*2495C= (n.*2495C=)
c.2020G=
c.4589C= (n.4589C=)
c.3942G= (p.Gln1314=)
c.1384G=
c.1178-58G=
n.237-58G=
c.4020G= (p.Gln1340=)
c.3966G= (p.Gln1322=)
c.3984-58G= (n.3984-58G=)
c.3612G= (p.Gln1204=)
c.2301G= (p.Gln767=)
1g.11788185G>TCA338470110C1orf167,MTHFRc.3384G>T (p.Gln1128His)
c.3885G>T (p.Gln1295His)
c.*2495C>A (n.*2495C>A)
c.2020G>T
c.4589C>A (n.4589C>A)
c.3942G>T (p.Gln1314His)
c.1384G>T
c.1178-58G>T
n.237-58G>T
c.4020G>T (p.Gln1340His)
c.3966G>T (p.Gln1322His)
c.3984-58G>T (n.3984-58G>T)
c.3612G>T (p.Gln1204His)
c.2301G>T (p.Gln767His)
gnomAD v4
1g.11788186G>ACA338470111C1orf167,MTHFRc.3385G>A (p.Ala1129Thr)
c.3886G>A (p.Ala1296Thr)
c.*2494C>T (n.*2494C>T)
c.2021G>A
c.4588C>T (n.4588C>T)
c.3943G>A (p.Ala1315Thr)
c.1385G>A
c.1178-57G>A
n.237-57G>A
c.4021G>A (p.Ala1341Thr)
c.3967G>A (p.Ala1323Thr)
c.3984-57G>A (n.3984-57G>A)
c.3613G>A (p.Ala1205Thr)
c.2302G>A (p.Ala768Thr)
1g.11788186G>CCA338470112C1orf167,MTHFRc.3385G>C (p.Ala1129Pro)
c.3886G>C (p.Ala1296Pro)
c.*2494C>G (n.*2494C>G)
c.2021G>C
c.4588C>G (n.4588C>G)
c.3943G>C (p.Ala1315Pro)
c.1385G>C
c.1178-57G>C
n.237-57G>C
c.4021G>C (p.Ala1341Pro)
c.3967G>C (p.Ala1323Pro)
c.3984-57G>C (n.3984-57G>C)
c.3613G>C (p.Ala1205Pro)
c.2302G>C (p.Ala768Pro)
1g.11788186G=CA1153786941C1orf167,MTHFRc.3385G= (p.Ala1129=)
c.3886G= (p.Ala1296=)
c.*2494C= (n.*2494C=)
c.2021G=
c.4588C= (n.4588C=)
c.3943G= (p.Ala1315=)
c.1385G=
c.1178-57G=
n.237-57G=
c.4021G= (p.Ala1341=)
c.3967G= (p.Ala1323=)
c.3984-57G= (n.3984-57G=)
c.3613G= (p.Ala1205=)
c.2302G= (p.Ala768=)
1g.11788186G>TCA338470113C1orf167,MTHFRc.3385G>T (p.Ala1129Ser)
c.3886G>T (p.Ala1296Ser)
c.*2494C>A (n.*2494C>A)
c.2021G>T
c.4588C>A (n.4588C>A)
c.3943G>T (p.Ala1315Ser)
c.1385G>T
c.1178-57G>T
n.237-57G>T
c.4021G>T (p.Ala1341Ser)
c.3967G>T (p.Ala1323Ser)
c.3984-57G>T (n.3984-57G>T)
c.3613G>T (p.Ala1205Ser)
c.2302G>T (p.Ala768Ser)
dbSNP gnomAD v2 gnomAD v4
1g.11788187C>ACA338470116C1orf167,MTHFRc.3386C>A (p.Ala1129Asp)
c.3887C>A (p.Ala1296Asp)
c.*2493G>T (n.*2493G>T)
c.2022C>A
c.4587G>T (n.4587G>T)
c.3944C>A (p.Ala1315Asp)
c.1386C>A
c.1178-56C>A
n.237-56C>A
c.4022C>A (p.Ala1341Asp)
c.3968C>A (p.Ala1323Asp)
c.3984-56C>A (n.3984-56C>A)
c.3614C>A (p.Ala1205Asp)
c.2303C>A (p.Ala768Asp)
gnomAD v4
1g.11788187C=CA1153786948C1orf167,MTHFRc.3386C= (p.Ala1129=)
c.3887C= (p.Ala1296=)
c.*2493G= (n.*2493G=)
c.2022C=
c.4587G= (n.4587G=)
c.3944C= (p.Ala1315=)
c.1386C=
c.1178-56C=
n.237-56C=
c.4022C= (p.Ala1341=)
c.3968C= (p.Ala1323=)
c.3984-56C= (n.3984-56C=)
c.3614C= (p.Ala1205=)
c.2303C= (p.Ala768=)
1g.11788187C>GCA338470115C1orf167,MTHFRc.3386C>G (p.Ala1129Gly)
c.3887C>G (p.Ala1296Gly)
c.*2493G>C (n.*2493G>C)
c.2022C>G
c.4587G>C (n.4587G>C)
c.3944C>G (p.Ala1315Gly)
c.1386C>G
c.1178-56C>G
n.237-56C>G
c.4022C>G (p.Ala1341Gly)
c.3968C>G (p.Ala1323Gly)
c.3984-56C>G (n.3984-56C>G)
c.3614C>G (p.Ala1205Gly)
c.2303C>G (p.Ala768Gly)
1g.11788187C>TCA338470114C1orf167,MTHFRc.3386C>T (p.Ala1129Val)
c.3887C>T (p.Ala1296Val)
c.*2493G>A (n.*2493G>A)
c.2022C>T
c.4587G>A (n.4587G>A)
c.3944C>T (p.Ala1315Val)
c.1386C>T
c.1178-56C>T
n.237-56C>T
c.4022C>T (p.Ala1341Val)
c.3968C>T (p.Ala1323Val)
c.3984-56C>T (n.3984-56C>T)
c.3614C>T (p.Ala1205Val)
c.2303C>T (p.Ala768Val)
dbSNP
1g.11788188C>ACA416361719C1orf167,MTHFRc.3387C>A (p.Ala1129=)
c.3888C>A (p.Ala1296=)
c.*2492G>T (n.*2492G>T)
c.2023C>A
c.4586G>T (n.4586G>T)
c.3945C>A (p.Ala1315=)
c.1387C>A
c.1178-55C>A
n.237-55C>A
c.4023C>A (p.Ala1341=)
c.3969C>A (p.Ala1323=)
c.3984-55C>A (n.3984-55C>A)
c.3615C>A (p.Ala1205=)
c.2304C>A (p.Ala768=)
1g.11788188C>GCA416361720C1orf167,MTHFRc.3387C>G (p.Ala1129=)
c.3888C>G (p.Ala1296=)
c.*2492G>C (n.*2492G>C)
c.2023C>G
c.4586G>C (n.4586G>C)
c.3945C>G (p.Ala1315=)
c.1387C>G
c.1178-55C>G
n.237-55C>G
c.4023C>G (p.Ala1341=)
c.3969C>G (p.Ala1323=)
c.3984-55C>G (n.3984-55C>G)
c.3615C>G (p.Ala1205=)
c.2304C>G (p.Ala768=)
1g.11788188C>TCA416361721C1orf167,MTHFRc.3387C>T (p.Ala1129=)
c.3888C>T (p.Ala1296=)
c.*2492G>A (n.*2492G>A)
c.2023C>T
c.4586G>A (n.4586G>A)
c.3945C>T (p.Ala1315=)
c.1387C>T
c.1178-55C>T
n.237-55C>T
c.4023C>T (p.Ala1341=)
c.3969C>T (p.Ala1323=)
c.3984-55C>T (n.3984-55C>T)
c.3615C>T (p.Ala1205=)
c.2304C>T (p.Ala768=)
gnomAD v4
1g.11788189C>ACA338470117C1orf167,MTHFRc.3388C>A (p.His1130Asn)
c.3889C>A (p.His1297Asn)
c.*2491G>T (n.*2491G>T)
c.2024C>A
c.4585G>T (n.4585G>T)
c.3946C>A (p.His1316Asn)
c.1388C>A
c.1178-54C>A
n.237-54C>A
c.4024C>A (p.His1342Asn)
c.3970C>A (p.His1324Asn)
c.3984-54C>A (n.3984-54C>A)
c.3616C>A (p.His1206Asn)
c.2305C>A (p.His769Asn)
1g.11788189C>GCA338470118C1orf167,MTHFRc.3388C>G (p.His1130Asp)
c.3889C>G (p.His1297Asp)
c.*2491G>C (n.*2491G>C)
c.2024C>G
c.4585G>C (n.4585G>C)
c.3946C>G (p.His1316Asp)
c.1388C>G
c.1178-54C>G
n.237-54C>G
c.4024C>G (p.His1342Asp)
c.3970C>G (p.His1324Asp)
c.3984-54C>G (n.3984-54C>G)
c.3616C>G (p.His1206Asp)
c.2305C>G (p.His769Asp)
1g.11788189C>TCA338470119C1orf167,MTHFRc.3388C>T (p.His1130Tyr)
c.3889C>T (p.His1297Tyr)
c.*2491G>A (n.*2491G>A)
c.2024C>T
c.4585G>A (n.4585G>A)
c.3946C>T (p.His1316Tyr)
c.1388C>T
c.1178-54C>T
n.237-54C>T
c.4024C>T (p.His1342Tyr)
c.3970C>T (p.His1324Tyr)
c.3984-54C>T (n.3984-54C>T)
c.3616C>T (p.His1206Tyr)
c.2305C>T (p.His769Tyr)
1g.11788190A=CA1149035707C1orf167,MTHFRc.3389A= (p.His1130=)
c.3890A= (p.His1297=)
c.*2490T= (n.*2490T=)
c.2025A=
c.4584T= (n.4584T=)
c.3947A= (p.His1316=)
c.1389A=
c.1178-53A=
n.237-53A=
c.4025A= (p.His1342=)
c.3971A= (p.His1324=)
c.3984-53A= (n.3984-53A=)
c.3617A= (p.His1206=)
c.2306A= (p.His769=)
1g.11788190A>CCA338470120C1orf167,MTHFRc.3389A>C (p.His1130Pro)
c.3890A>C (p.His1297Pro)
c.*2490T>G (n.*2490T>G)
c.2025A>C
c.4584T>G (n.4584T>G)
c.3947A>C (p.His1316Pro)
c.1389A>C
c.1178-53A>C
n.237-53A>C
c.4025A>C (p.His1342Pro)
c.3971A>C (p.His1324Pro)
c.3984-53A>C (n.3984-53A>C)
c.3617A>C (p.His1206Pro)
c.2306A>C (p.His769Pro)
1g.11788190A>GCA338470121C1orf167,MTHFRc.3389A>G (p.His1130Arg)
c.3890A>G (p.His1297Arg)
c.*2490T>C (n.*2490T>C)
c.2025A>G
c.4584T>C (n.4584T>C)
c.3947A>G (p.His1316Arg)
c.1389A>G
c.1178-53A>G
n.237-53A>G
c.4025A>G (p.His1342Arg)
c.3971A>G (p.His1324Arg)
c.3984-53A>G (n.3984-53A>G)
c.3617A>G (p.His1206Arg)
c.2306A>G (p.His769Arg)
gnomAD v4
1g.11788190A>TCA595077C1orf167,MTHFRc.3389A>T (p.His1130Leu)
c.3890A>T (p.His1297Leu)
c.*2490T>A (n.*2490T>A)
c.2025A>T
c.4584T>A (n.4584T>A)
c.3947A>T (p.His1316Leu)
c.1389A>T
c.1178-53A>T
n.237-53A>T
c.4025A>T (p.His1342Leu)
c.3971A>T (p.His1324Leu)
c.3984-53A>T (n.3984-53A>T)
c.3617A>T (p.His1206Leu)
c.2306A>T (p.His769Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.11788191delCA2643295633C1orf167,MTHFRc.3390del (p.His1130GlnfsTer9)
c.3891del (p.His1297GlnfsTer9)
c.*2489del (n.*2489del)
c.2026del
c.4583del (n.4583del)
c.3948del (p.His1316GlnfsTer9)
c.1390del
c.1178-52del
n.237-52del
c.4026del (p.His1342GlnfsTer9)
c.3972del (p.His1324GlnfsTer9)
c.3984-52del (n.3984-52del)
c.3618del (p.His1206GlnfsTer9)
c.2307del (p.His769GlnfsTer9)
gnomAD v4
1g.11788191T>ACA338470122C1orf167,MTHFRc.3390T>A (p.His1130Gln)
c.3891T>A (p.His1297Gln)
c.*2489A>T (n.*2489A>T)
c.2026T>A
c.4583A>T (n.4583A>T)
c.3948T>A (p.His1316Gln)
c.1390T>A
c.1178-52T>A
n.237-52T>A
c.4026T>A (p.His1342Gln)
c.3972T>A (p.His1324Gln)
c.3984-52T>A (n.3984-52T>A)
c.3618T>A (p.His1206Gln)
c.2307T>A (p.His769Gln)
1g.11788191T>CCA416361722C1orf167,MTHFRc.3390T>C (p.His1130=)
c.3891T>C (p.His1297=)
c.*2489A>G (n.*2489A>G)
c.2026T>C
c.4583A>G (n.4583A>G)
c.3948T>C (p.His1316=)
c.1390T>C
c.1178-52T>C
n.237-52T>C
c.4026T>C (p.His1342=)
c.3972T>C (p.His1324=)
c.3984-52T>C (n.3984-52T>C)
c.3618T>C (p.His1206=)
c.2307T>C (p.His769=)
dbSNP gnomAD v4
1g.11788191T>GCA338470123C1orf167,MTHFRc.3390T>G (p.His1130Gln)
c.3891T>G (p.His1297Gln)
c.*2489A>C (n.*2489A>C)
c.2026T>G
c.4583A>C (n.4583A>C)
c.3948T>G (p.His1316Gln)
c.1390T>G
c.1178-52T>G
n.237-52T>G
c.4026T>G (p.His1342Gln)
c.3972T>G (p.His1324Gln)
c.3984-52T>G (n.3984-52T>G)
c.3618T>G (p.His1206Gln)
c.2307T>G (p.His769Gln)
1g.11788191T=CA1153786959C1orf167,MTHFRc.3390T= (p.His1130=)
c.3891T= (p.His1297=)
c.*2489A= (n.*2489A=)
c.2026T=
c.4583A= (n.4583A=)
c.3948T= (p.His1316=)
c.1390T=
c.1178-52T=
n.237-52T=
c.4026T= (p.His1342=)
c.3972T= (p.His1324=)
c.3984-52T= (n.3984-52T=)
c.3618T= (p.His1206=)
c.2307T= (p.His769=)
1g.11788192G>ACA338470124C1orf167,MTHFRc.3391G>A (p.Gly1131Ser)
c.3892G>A (p.Gly1298Ser)
c.*2488C>T (n.*2488C>T)
c.2027G>A
c.4582C>T (n.4582C>T)
c.3949G>A (p.Gly1317Ser)
c.1391G>A
c.1178-51G>A
n.237-51G>A
c.4027G>A (p.Gly1343Ser)
c.3973G>A (p.Gly1325Ser)
c.3984-51G>A (n.3984-51G>A)
c.3619G>A (p.Gly1207Ser)
c.2308G>A (p.Gly770Ser)
dbSNP
1g.11788192G>CCA338470125C1orf167,MTHFRc.3391G>C (p.Gly1131Arg)
c.3892G>C (p.Gly1298Arg)
c.*2488C>G (n.*2488C>G)
c.2027G>C
c.4582C>G (n.4582C>G)
c.3949G>C (p.Gly1317Arg)
c.1391G>C
c.1178-51G>C
n.237-51G>C
c.4027G>C (p.Gly1343Arg)
c.3973G>C (p.Gly1325Arg)
c.3984-51G>C (n.3984-51G>C)
c.3619G>C (p.Gly1207Arg)
c.2308G>C (p.Gly770Arg)
1g.11788192G=CA1153786961C1orf167,MTHFRc.3391G= (p.Gly1131=)
c.3892G= (p.Gly1298=)
c.*2488C= (n.*2488C=)
c.2027G=
c.4582C= (n.4582C=)
c.3949G= (p.Gly1317=)
c.1391G=
c.1178-51G=
n.237-51G=
c.4027G= (p.Gly1343=)
c.3973G= (p.Gly1325=)
c.3984-51G= (n.3984-51G=)
c.3619G= (p.Gly1207=)
c.2308G= (p.Gly770=)
1g.11788192G>TCA338470126C1orf167,MTHFRc.3391G>T (p.Gly1131Cys)
c.3892G>T (p.Gly1298Cys)
c.*2488C>A (n.*2488C>A)
c.2027G>T
c.4582C>A (n.4582C>A)
c.3949G>T (p.Gly1317Cys)
c.1391G>T
c.1178-51G>T
n.237-51G>T
c.4027G>T (p.Gly1343Cys)
c.3973G>T (p.Gly1325Cys)
c.3984-51G>T (n.3984-51G>T)
c.3619G>T (p.Gly1207Cys)
c.2308G>T (p.Gly770Cys)
1g.11788193G>ACA338470127C1orf167,MTHFRc.3392G>A (p.Gly1131Asp)
c.3893G>A (p.Gly1298Asp)
c.*2487C>T (n.*2487C>T)
c.2028G>A
c.4581C>T (n.4581C>T)
c.3950G>A (p.Gly1317Asp)
c.1392G>A
c.1178-50G>A
n.237-50G>A
c.4028G>A (p.Gly1343Asp)
c.3974G>A (p.Gly1325Asp)
c.3984-50G>A (n.3984-50G>A)
c.3620G>A (p.Gly1207Asp)
c.2309G>A (p.Gly770Asp)
gnomAD v4
1g.11788193G>CCA338470128C1orf167,MTHFRc.3392G>C (p.Gly1131Ala)
c.3893G>C (p.Gly1298Ala)
c.*2487C>G (n.*2487C>G)
c.2028G>C
c.4581C>G (n.4581C>G)
c.3950G>C (p.Gly1317Ala)
c.1392G>C
c.1178-50G>C
n.237-50G>C
c.4028G>C (p.Gly1343Ala)
c.3974G>C (p.Gly1325Ala)
c.3984-50G>C (n.3984-50G>C)
c.3620G>C (p.Gly1207Ala)
c.2309G>C (p.Gly770Ala)
1g.11788193G>TCA338470129C1orf167,MTHFRc.3392G>T (p.Gly1131Val)
c.3893G>T (p.Gly1298Val)
c.*2487C>A (n.*2487C>A)
c.2028G>T
c.4581C>A (n.4581C>A)
c.3950G>T (p.Gly1317Val)
c.1392G>T
c.1178-50G>T
n.237-50G>T
c.4028G>T (p.Gly1343Val)
c.3974G>T (p.Gly1325Val)
c.3984-50G>T (n.3984-50G>T)
c.3620G>T (p.Gly1207Val)
c.2309G>T (p.Gly770Val)
1g.11788194C>ACA416361723C1orf167,MTHFRc.3393C>A (p.Gly1131=)
c.3894C>A (p.Gly1298=)
c.*2486G>T (n.*2486G>T)
c.2029C>A
c.4580G>T (n.4580G>T)
c.3951C>A (p.Gly1317=)
c.1393C>A
c.1178-49C>A
n.237-49C>A
c.4029C>A (p.Gly1343=)
c.3975C>A (p.Gly1325=)
c.3984-49C>A (n.3984-49C>A)
c.3621C>A (p.Gly1207=)
c.2310C>A (p.Gly770=)
gnomAD v4
1g.11788194C>GCA416361724C1orf167,MTHFRc.3393C>G (p.Gly1131=)
c.3894C>G (p.Gly1298=)
c.*2486G>C (n.*2486G>C)
c.2029C>G
c.4580G>C (n.4580G>C)
c.3951C>G (p.Gly1317=)
c.1393C>G
c.1178-49C>G
n.237-49C>G
c.4029C>G (p.Gly1343=)
c.3975C>G (p.Gly1325=)
c.3984-49C>G (n.3984-49C>G)
c.3621C>G (p.Gly1207=)
c.2310C>G (p.Gly770=)
1g.11788194C>TCA416361725C1orf167,MTHFRc.3393C>T (p.Gly1131=)
c.3894C>T (p.Gly1298=)
c.*2486G>A (n.*2486G>A)
c.2029C>T
c.4580G>A (n.4580G>A)
c.3951C>T (p.Gly1317=)
c.1393C>T
c.1178-49C>T
n.237-49C>T
c.4029C>T (p.Gly1343=)
c.3975C>T (p.Gly1325=)
c.3984-49C>T (n.3984-49C>T)
c.3621C>T (p.Gly1207=)
c.2310C>T (p.Gly770=)
gnomAD v4
1g.11788195T>ACA338470131C1orf167,MTHFRc.3394T>A (p.Ser1132Thr)
c.3895T>A (p.Ser1299Thr)
c.*2485A>T (n.*2485A>T)
c.2030T>A
c.4579A>T (n.4579A>T)
c.3952T>A (p.Ser1318Thr)
c.1394T>A
c.1178-48T>A
n.237-48T>A
c.4030T>A (p.Ser1344Thr)
c.3976T>A (p.Ser1326Thr)
c.3984-48T>A (n.3984-48T>A)
c.3622T>A (p.Ser1208Thr)
c.2311T>A (p.Ser771Thr)
1g.11788195T>CCA338470132C1orf167,MTHFRc.3394T>C (p.Ser1132Pro)
c.3895T>C (p.Ser1299Pro)
c.*2485A>G (n.*2485A>G)
c.2030T>C
c.4579A>G (n.4579A>G)
c.3952T>C (p.Ser1318Pro)
c.1394T>C
c.1178-48T>C
n.237-48T>C
c.4030T>C (p.Ser1344Pro)
c.3976T>C (p.Ser1326Pro)
c.3984-48T>C (n.3984-48T>C)
c.3622T>C (p.Ser1208Pro)
c.2311T>C (p.Ser771Pro)
1g.11788195T>GCA338470130C1orf167,MTHFRc.3394T>G (p.Ser1132Ala)
c.3895T>G (p.Ser1299Ala)
c.*2485A>C (n.*2485A>C)
c.2030T>G
c.4579A>C (n.4579A>C)
c.3952T>G (p.Ser1318Ala)
c.1394T>G
c.1178-48T>G
n.237-48T>G
c.4030T>G (p.Ser1344Ala)
c.3976T>G (p.Ser1326Ala)
c.3984-48T>G (n.3984-48T>G)
c.3622T>G (p.Ser1208Ala)
c.2311T>G (p.Ser771Ala)
1g.11788196C>ACA338470133C1orf167,MTHFRc.3395C>A (p.Ser1132Tyr)
c.3896C>A (p.Ser1299Tyr)
c.*2484G>T (n.*2484G>T)
c.2031C>A
c.4578G>T (n.4578G>T)
c.3953C>A (p.Ser1318Tyr)
c.1395C>A
c.1178-47C>A
n.237-47C>A
c.4031C>A (p.Ser1344Tyr)
c.3977C>A (p.Ser1326Tyr)
c.3984-47C>A (n.3984-47C>A)
c.3623C>A (p.Ser1208Tyr)
c.2312C>A (p.Ser771Tyr)
gnomAD v4
1g.11788196C>GCA338470134C1orf167,MTHFRc.3395C>G (p.Ser1132Cys)
c.3896C>G (p.Ser1299Cys)
c.*2484G>C (n.*2484G>C)
c.2031C>G
c.4578G>C (n.4578G>C)
c.3953C>G (p.Ser1318Cys)
c.1395C>G
c.1178-47C>G
n.237-47C>G
c.4031C>G (p.Ser1344Cys)
c.3977C>G (p.Ser1326Cys)
c.3984-47C>G (n.3984-47C>G)
c.3623C>G (p.Ser1208Cys)
c.2312C>G (p.Ser771Cys)
gnomAD v4
1g.11788196C>TCA338470135C1orf167,MTHFRc.3395C>T (p.Ser1132Phe)
c.3896C>T (p.Ser1299Phe)
c.*2484G>A (n.*2484G>A)
c.2031C>T
c.4578G>A (n.4578G>A)
c.3953C>T (p.Ser1318Phe)
c.1395C>T
c.1178-47C>T
n.237-47C>T
c.4031C>T (p.Ser1344Phe)
c.3977C>T (p.Ser1326Phe)
c.3984-47C>T (n.3984-47C>T)
c.3623C>T (p.Ser1208Phe)
c.2312C>T (p.Ser771Phe)
gnomAD v4
1g.11788196_11788197insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAACA2572365536C1orf167,MTHFRc.3395_3396insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1133PhefsTer6)
c.3896_3897insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1300PhefsTer6)
c.*2483_*2484insTTCAGAGTTGCTTGTCAGAGGCTGACTGAGAAC (n.*2483_*2484insTTCAGAGTTGCTTGTCAGAGGCTGACTGAGAAC)
c.2031_2032insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA
c.4577_4578insTTCAGAGTTGCTTGTCAGAGGCTGACTGAGAAC (n.4577_4578insTTCAGAGTTGCTTGTCAGAGGCTGACTGAGAAC)
c.3953_3954insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1319PhefsTer6)
c.1395_1396insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA
c.1178-47_1178-46insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA
n.237-47_237-46insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA
c.4031_4032insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1345PhefsTer6)
c.3977_3978insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1327PhefsTer6)
c.3984-47_3984-46insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (n.3984-47_3984-46insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA)
c.3623_3624insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1209PhefsTer6)
c.2312_2313insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser772PhefsTer6)
1g.11788197T>ACA416361726C1orf167,MTHFRc.3396T>A (p.Ser1132=)
c.3897T>A (p.Ser1299=)
c.*2483A>T (n.*2483A>T)
c.2032T>A
c.4577A>T (n.4577A>T)
c.3954T>A (p.Ser1318=)
c.1396T>A
c.1178-46T>A
n.237-46T>A
c.4032T>A (p.Ser1344=)
c.3978T>A (p.Ser1326=)
c.3984-46T>A (n.3984-46T>A)
c.3624T>A (p.Ser1208=)
c.2313T>A (p.Ser771=)
1g.11788197T>CCA416361727C1orf167,MTHFRc.3396T>C (p.Ser1132=)
c.3897T>C (p.Ser1299=)
c.*2483A>G (n.*2483A>G)
c.2032T>C
c.4577A>G (n.4577A>G)
c.3954T>C (p.Ser1318=)
c.1396T>C
c.1178-46T>C
n.237-46T>C
c.4032T>C (p.Ser1344=)
c.3978T>C (p.Ser1326=)
c.3984-46T>C (n.3984-46T>C)
c.3624T>C (p.Ser1208=)
c.2313T>C (p.Ser771=)
1g.11788197T>GCA416361728C1orf167,MTHFRc.3396T>G (p.Ser1132=)
c.3897T>G (p.Ser1299=)
c.*2483A>C (n.*2483A>C)
c.2032T>G
c.4577A>C (n.4577A>C)
c.3954T>G (p.Ser1318=)
c.1396T>G
c.1178-46T>G
n.237-46T>G
c.4032T>G (p.Ser1344=)
c.3978T>G (p.Ser1326=)
c.3984-46T>G (n.3984-46T>G)
c.3624T>G (p.Ser1208=)
c.2313T>G (p.Ser771=)
1g.11788198G>ACA17996213C1orf167,MTHFRc.3397G>A (p.Ala1133Thr)
c.3898G>A (p.Ala1300Thr)
c.*2482C>T (n.*2482C>T)
c.2033G>A
c.4576C>T (n.4576C>T)
c.3955G>A (p.Ala1319Thr)
c.1397G>A
c.1178-45G>A
n.237-45G>A
c.4033G>A (p.Ala1345Thr)
c.3979G>A (p.Ala1327Thr)
c.3984-45G>A (n.3984-45G>A)
c.3625G>A (p.Ala1209Thr)
c.2314G>A (p.Ala772Thr)
dbSNP gnomAD v4
1g.11788198G>CCA338470136C1orf167,MTHFRc.3397G>C (p.Ala1133Pro)
c.3898G>C (p.Ala1300Pro)
c.*2482C>G (n.*2482C>G)
c.2033G>C
c.4576C>G (n.4576C>G)
c.3955G>C (p.Ala1319Pro)
c.1397G>C
c.1178-45G>C
n.237-45G>C
c.4033G>C (p.Ala1345Pro)
c.3979G>C (p.Ala1327Pro)
c.3984-45G>C (n.3984-45G>C)
c.3625G>C (p.Ala1209Pro)
c.2314G>C (p.Ala772Pro)
1g.11788198G=CA1153786966C1orf167,MTHFRc.3397G= (p.Ala1133=)
c.3898G= (p.Ala1300=)
c.*2482C= (n.*2482C=)
c.2033G=
c.4576C= (n.4576C=)
c.3955G= (p.Ala1319=)
c.1397G=
c.1178-45G=
n.237-45G=
c.4033G= (p.Ala1345=)
c.3979G= (p.Ala1327=)
c.3984-45G= (n.3984-45G=)
c.3625G= (p.Ala1209=)
c.2314G= (p.Ala772=)
1g.11788198G>TCA338470137C1orf167,MTHFRc.3397G>T (p.Ala1133Ser)
c.3898G>T (p.Ala1300Ser)
c.*2482C>A (n.*2482C>A)
c.2033G>T
c.4576C>A (n.4576C>A)
c.3955G>T (p.Ala1319Ser)
c.1397G>T
c.1178-45G>T
n.237-45G>T
c.4033G>T (p.Ala1345Ser)
c.3979G>T (p.Ala1327Ser)
c.3984-45G>T (n.3984-45G>T)
c.3625G>T (p.Ala1209Ser)
c.2314G>T (p.Ala772Ser)
gnomAD v4
1g.11788199C>ACA338470138C1orf167,MTHFRc.3398C>A (p.Ala1133Asp)
c.3899C>A (p.Ala1300Asp)
c.*2481G>T (n.*2481G>T)
c.2034C>A
c.4575G>T (n.4575G>T)
c.3956C>A (p.Ala1319Asp)
c.1398C>A
c.1178-44C>A
n.237-44C>A
c.4034C>A (p.Ala1345Asp)
c.3980C>A (p.Ala1327Asp)
c.3984-44C>A (n.3984-44C>A)
c.3626C>A (p.Ala1209Asp)
c.2315C>A (p.Ala772Asp)
1g.11788199C=CA1153786972C1orf167,MTHFRc.3398C= (p.Ala1133=)
c.3899C= (p.Ala1300=)
c.*2481G= (n.*2481G=)
c.2034C=
c.4575G= (n.4575G=)
c.3956C= (p.Ala1319=)
c.1398C=
c.1178-44C=
n.237-44C=
c.4034C= (p.Ala1345=)
c.3980C= (p.Ala1327=)
c.3984-44C= (n.3984-44C=)
c.3626C= (p.Ala1209=)
c.2315C= (p.Ala772=)
1g.11788199C>GCA338470139C1orf167,MTHFRc.3398C>G (p.Ala1133Gly)
c.3899C>G (p.Ala1300Gly)
c.*2481G>C (n.*2481G>C)
c.2034C>G
c.4575G>C (n.4575G>C)
c.3956C>G (p.Ala1319Gly)
c.1398C>G
c.1178-44C>G
n.237-44C>G
c.4034C>G (p.Ala1345Gly)
c.3980C>G (p.Ala1327Gly)
c.3984-44C>G (n.3984-44C>G)
c.3626C>G (p.Ala1209Gly)
c.2315C>G (p.Ala772Gly)
1g.11788199C>TCA338470140C1orf167,MTHFRc.3398C>T (p.Ala1133Val)
c.3899C>T (p.Ala1300Val)
c.*2481G>A (n.*2481G>A)
c.2034C>T
c.4575G>A (n.4575G>A)
c.3956C>T (p.Ala1319Val)
c.1398C>T
c.1178-44C>T
n.237-44C>T
c.4034C>T (p.Ala1345Val)
c.3980C>T (p.Ala1327Val)
c.3984-44C>T (n.3984-44C>T)
c.3626C>T (p.Ala1209Val)
c.2315C>T (p.Ala772Val)
dbSNP gnomAD v2 gnomAD v4
1g.11788201delCA2643295634C1orf167,MTHFRc.3400del (p.Leu1134SerfsTer5)
c.3901del (p.Leu1301SerfsTer5)
c.*2481del (n.*2481del)
c.2036del
c.4575del (n.4575del)
c.3958del (p.Leu1320SerfsTer5)
c.1400del
c.1178-42del
n.237-42del
c.4036del (p.Leu1346SerfsTer5)
c.3982del (p.Leu1328SerfsTer5)
c.3984-42del (n.3984-42del)
c.3628del (p.Leu1210SerfsTer5)
c.2317del (p.Leu773SerfsTer5)
gnomAD v4
1g.11788199_11788202delinsCCCTCA1153786971C1orf167,MTHFRc.3398_3401delinsCCCT (p.Ala1133=)
c.3899_3902delinsCCCT (p.Ala1300=)
c.*2478_*2481delinsAGGG (n.*2478_*2481delinsAGGG)
c.2034_2037delinsCCCT
c.4572_4575delinsAGGG (n.4572_4575delinsAGGG)
c.3956_3959delinsCCCT (p.Ala1319=)
c.1398_1401delinsCCCT
c.1178-44_1178-41delinsCCCT
n.237-44_237-41delinsCCCT
c.4034_4037delinsCCCT (p.Ala1345=)
c.3980_3983delinsCCCT (p.Ala1327=)
c.3984-44_3984-41delinsCCCT (n.3984-44_3984-41delinsCCCT)
c.3626_3629delinsCCCT (p.Ala1209=)
c.2315_2318delinsCCCT (p.Ala772=)
1g.11788200C>ACA416361729C1orf167,MTHFRc.3399C>A (p.Ala1133=)
c.3900C>A (p.Ala1300=)
c.*2480G>T (n.*2480G>T)
c.2035C>A
c.4574G>T (n.4574G>T)
c.3957C>A (p.Ala1319=)
c.1399C>A
c.1178-43C>A
n.237-43C>A
c.4035C>A (p.Ala1345=)
c.3981C>A (p.Ala1327=)
c.3984-43C>A (n.3984-43C>A)
c.3627C>A (p.Ala1209=)
c.2316C>A (p.Ala772=)
1g.11788200C>GCA416361730C1orf167,MTHFRc.3399C>G (p.Ala1133=)
c.3900C>G (p.Ala1300=)
c.*2480G>C (n.*2480G>C)
c.2035C>G
c.4574G>C (n.4574G>C)
c.3957C>G (p.Ala1319=)
c.1399C>G
c.1178-43C>G
n.237-43C>G
c.4035C>G (p.Ala1345=)
c.3981C>G (p.Ala1327=)
c.3984-43C>G (n.3984-43C>G)
c.3627C>G (p.Ala1209=)
c.2316C>G (p.Ala772=)
1g.11788200C>TCA416361731C1orf167,MTHFRc.3399C>T (p.Ala1133=)
c.3900C>T (p.Ala1300=)
c.*2480G>A (n.*2480G>A)
c.2035C>T
c.4574G>A (n.4574G>A)
c.3957C>T (p.Ala1319=)
c.1399C>T
c.1178-43C>T
n.237-43C>T
c.4035C>T (p.Ala1345=)
c.3981C>T (p.Ala1327=)
c.3984-43C>T (n.3984-43C>T)
c.3627C>T (p.Ala1209=)
c.2316C>T (p.Ala772=)
1g.11788203_11788205delCA886036603C1orf167,MTHFRc.3402_3404del (p.Leu1135del)
c.3903_3905del (p.Leu1302del)
c.*2478_*2480del (n.*2478_*2480del)
c.2038_2040del
c.4572_4574del (n.4572_4574del)
c.3960_3962del (p.Leu1321del)
c.1402_1404del
c.1178-40_1178-38del
n.237-40_237-38del
c.4038_4040del (p.Leu1347del)
c.3984_3986del (p.Leu1329del)
c.3984-40_3984-38del (n.3984-40_3984-38del)
c.3630_3632del (p.Leu1211del)
c.2319_2321del (p.Leu774del)
dbSNP
1g.11788201C>ACA338470141C1orf167,MTHFRc.3400C>A (p.Leu1134Ile)
c.3901C>A (p.Leu1301Ile)
c.*2479G>T (n.*2479G>T)
c.2036C>A
c.4573G>T (n.4573G>T)
c.3958C>A (p.Leu1320Ile)
c.1400C>A
c.1178-42C>A
n.237-42C>A
c.4036C>A (p.Leu1346Ile)
c.3982C>A (p.Leu1328Ile)
c.3984-42C>A (n.3984-42C>A)
c.3628C>A (p.Leu1210Ile)
c.2317C>A (p.Leu773Ile)
gnomAD v4
1g.11788201C>GCA338470142C1orf167,MTHFRc.3400C>G (p.Leu1134Val)
c.3901C>G (p.Leu1301Val)
c.*2479G>C (n.*2479G>C)
c.2036C>G
c.4573G>C (n.4573G>C)
c.3958C>G (p.Leu1320Val)
c.1400C>G
c.1178-42C>G
n.237-42C>G
c.4036C>G (p.Leu1346Val)
c.3982C>G (p.Leu1328Val)
c.3984-42C>G (n.3984-42C>G)
c.3628C>G (p.Leu1210Val)
c.2317C>G (p.Leu773Val)
1g.11788201C>TCA338470143C1orf167,MTHFRc.3400C>T (p.Leu1134Phe)
c.3901C>T (p.Leu1301Phe)
c.*2479G>A (n.*2479G>A)
c.2036C>T
c.4573G>A (n.4573G>A)
c.3958C>T (p.Leu1320Phe)
c.1400C>T
c.1178-42C>T
n.237-42C>T
c.4036C>T (p.Leu1346Phe)
c.3982C>T (p.Leu1328Phe)
c.3984-42C>T (n.3984-42C>T)
c.3628C>T (p.Leu1210Phe)
c.2317C>T (p.Leu773Phe)
COSMIC COSMIC
1g.11788202T>ACA338470145C1orf167,MTHFRc.3401T>A (p.Leu1134His)
c.3902T>A (p.Leu1301His)
c.*2478A>T (n.*2478A>T)
c.2037T>A
c.4572A>T (n.4572A>T)
c.3959T>A (p.Leu1320His)
c.1401T>A
c.1178-41T>A
n.237-41T>A
c.4037T>A (p.Leu1346His)
c.3983T>A (p.Leu1328His)
c.3984-41T>A (n.3984-41T>A)
c.3629T>A (p.Leu1210His)
c.2318T>A (p.Leu773His)
1g.11788202T>CCA338470144C1orf167,MTHFRc.3401T>C (p.Leu1134Pro)
c.3902T>C (p.Leu1301Pro)
c.*2478A>G (n.*2478A>G)
c.2037T>C
c.4572A>G (n.4572A>G)
c.3959T>C (p.Leu1320Pro)
c.1401T>C
c.1178-41T>C
n.237-41T>C
c.4037T>C (p.Leu1346Pro)
c.3983T>C (p.Leu1328Pro)
c.3984-41T>C (n.3984-41T>C)
c.3629T>C (p.Leu1210Pro)
c.2318T>C (p.Leu773Pro)
1g.11788202T>GCA595078C1orf167,MTHFRc.3401T>G (p.Leu1134Arg)
c.3902T>G (p.Leu1301Arg)
c.*2478A>C (n.*2478A>C)
c.2037T>G
c.4572A>C (n.4572A>C)
c.3959T>G (p.Leu1320Arg)
c.1401T>G
c.1178-41T>G
n.237-41T>G
c.4037T>G (p.Leu1346Arg)
c.3983T>G (p.Leu1328Arg)
c.3984-41T>G (n.3984-41T>G)
c.3629T>G (p.Leu1210Arg)
c.2318T>G (p.Leu773Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11788202T=CA1144751603C1orf167,MTHFRc.3401T= (p.Leu1134=)
c.3902T= (p.Leu1301=)
c.*2478A= (n.*2478A=)
c.2037T=
c.4572A= (n.4572A=)
c.3959T= (p.Leu1320=)
c.1401T=
c.1178-41T=
n.237-41T=
c.4037T= (p.Leu1346=)
c.3983T= (p.Leu1328=)
c.3984-41T= (n.3984-41T=)
c.3629T= (p.Leu1210=)
c.2318T= (p.Leu773=)
1g.11788203C>ACA416361732C1orf167,MTHFRc.3402C>A (p.Leu1134=)
c.3903C>A (p.Leu1301=)
c.*2477G>T (n.*2477G>T)
c.2038C>A
c.4571G>T (n.4571G>T)
c.3960C>A (p.Leu1320=)
c.1402C>A
c.1178-40C>A
n.237-40C>A
c.4038C>A (p.Leu1346=)
c.3984C>A (p.Leu1328=)
c.3984-40C>A (n.3984-40C>A)
c.3630C>A (p.Leu1210=)
c.2319C>A (p.Leu773=)
gnomAD v4
1g.11788203C>GCA416361733C1orf167,MTHFRc.3402C>G (p.Leu1134=)
c.3903C>G (p.Leu1301=)
c.*2477G>C (n.*2477G>C)
c.2038C>G
c.4571G>C (n.4571G>C)
c.3960C>G (p.Leu1320=)
c.1402C>G
c.1178-40C>G
n.237-40C>G
c.4038C>G (p.Leu1346=)
c.3984C>G (p.Leu1328=)
c.3984-40C>G (n.3984-40C>G)
c.3630C>G (p.Leu1210=)
c.2319C>G (p.Leu773=)
1g.11788203C>TCA416361734C1orf167,MTHFRc.3402C>T (p.Leu1134=)
c.3903C>T (p.Leu1301=)
c.*2477G>A (n.*2477G>A)
c.2038C>T
c.4571G>A (n.4571G>A)
c.3960C>T (p.Leu1320=)
c.1402C>T
c.1178-40C>T
n.237-40C>T
c.4038C>T (p.Leu1346=)
c.3984C>T (p.Leu1328=)
c.3984-40C>T (n.3984-40C>T)
c.3630C>T (p.Leu1210=)
c.2319C>T (p.Leu773=)
1g.11788203_11788206delinsCCTTCA1153786981C1orf167,MTHFRc.3402_3405delinsCCTT (p.Leu1134=)
c.3903_3906delinsCCTT (p.Leu1301=)
c.*2474_*2477delinsAAGG (n.*2474_*2477delinsAAGG)
c.2038_2041delinsCCTT
c.4568_4571delinsAAGG (n.4568_4571delinsAAGG)
c.3960_3963delinsCCTT (p.Leu1320=)
c.1402_1405delinsCCTT
c.1178-40_1178-37delinsCCTT
n.237-40_237-37delinsCCTT
c.4038_4041delinsCCTT (p.Leu1346=)
c.3984_3987delinsCCTT (p.Leu1328=)
c.3984-40_3984-37delinsCCTT (n.3984-40_3984-37delinsCCTT)
c.3630_3633delinsCCTT (p.Leu1210=)
c.2319_2322delinsCCTT (p.Leu773=)
1g.11788204C>ACA338470146C1orf167,MTHFRc.3403C>A (p.Leu1135Ile)
c.3904C>A (p.Leu1302Ile)
c.*2476G>T (n.*2476G>T)
c.2039C>A
c.4570G>T (n.4570G>T)
c.3961C>A (p.Leu1321Ile)
c.1403C>A
c.1178-39C>A
n.237-39C>A
c.4039C>A (p.Leu1347Ile)
c.3985C>A (p.Leu1329Ile)
c.3984-39C>A (n.3984-39C>A)
c.3631C>A (p.Leu1211Ile)
c.2320C>A (p.Leu774Ile)
1g.11788204C>GCA338470147C1orf167,MTHFRc.3403C>G (p.Leu1135Val)
c.3904C>G (p.Leu1302Val)
c.*2476G>C (n.*2476G>C)
c.2039C>G
c.4570G>C (n.4570G>C)
c.3961C>G (p.Leu1321Val)
c.1403C>G
c.1178-39C>G
n.237-39C>G
c.4039C>G (p.Leu1347Val)
c.3985C>G (p.Leu1329Val)
c.3984-39C>G (n.3984-39C>G)
c.3631C>G (p.Leu1211Val)
c.2320C>G (p.Leu774Val)
1g.11788204C>TCA338470148C1orf167,MTHFRc.3403C>T (p.Leu1135Phe)
c.3904C>T (p.Leu1302Phe)
c.*2476G>A (n.*2476G>A)
c.2039C>T
c.4570G>A (n.4570G>A)
c.3961C>T (p.Leu1321Phe)
c.1403C>T
c.1178-39C>T
n.237-39C>T
c.4039C>T (p.Leu1347Phe)
c.3985C>T (p.Leu1329Phe)
c.3984-39C>T (n.3984-39C>T)
c.3631C>T (p.Leu1211Phe)
c.2320C>T (p.Leu774Phe)
1g.11788206_11788208delCA10607836C1orf167,MTHFRc.3405_3407del (p.Leu1136del)
c.3906_3908del (p.Leu1303del)
c.*2474_*2476del (n.*2474_*2476del)
c.2041_2043del
c.4568_4570del (n.4568_4570del)
c.3963_3965del (p.Leu1322del)
c.1405_1407del
c.1178-37_1178-35del
n.237-37_237-35del
c.4041_4043del (p.Leu1348del)
c.3987_3989del (p.Leu1330del)
c.3984-37_3984-35del (n.3984-37_3984-35del)
c.3633_3635del (p.Leu1212del)
c.2322_2324del (p.Leu775del)
ClinVar dbSNP gnomAD v4
1g.11788205T>ACA338470149C1orf167,MTHFRc.3404T>A (p.Leu1135His)
c.3905T>A (p.Leu1302His)
c.*2475A>T (n.*2475A>T)
c.2040T>A
c.4569A>T (n.4569A>T)
c.3962T>A (p.Leu1321His)
c.1404T>A
c.1178-38T>A
n.237-38T>A
c.4040T>A (p.Leu1347His)
c.3986T>A (p.Leu1329His)
c.3984-38T>A (n.3984-38T>A)
c.3632T>A (p.Leu1211His)
c.2321T>A (p.Leu774His)
1g.11788205T>CCA338470150C1orf167,MTHFRc.3404T>C (p.Leu1135Pro)
c.3905T>C (p.Leu1302Pro)
c.*2475A>G (n.*2475A>G)
c.2040T>C
c.4569A>G (n.4569A>G)
c.3962T>C (p.Leu1321Pro)
c.1404T>C
c.1178-38T>C
n.237-38T>C
c.4040T>C (p.Leu1347Pro)
c.3986T>C (p.Leu1329Pro)
c.3984-38T>C (n.3984-38T>C)
c.3632T>C (p.Leu1211Pro)
c.2321T>C (p.Leu774Pro)
1g.11788205T>GCA17996227C1orf167,MTHFRc.3404T>G (p.Leu1135Arg)
c.3905T>G (p.Leu1302Arg)
c.*2475A>C (n.*2475A>C)
c.2040T>G
c.4569A>C (n.4569A>C)
c.3962T>G (p.Leu1321Arg)
c.1404T>G
c.1178-38T>G
n.237-38T>G
c.4040T>G (p.Leu1347Arg)
c.3986T>G (p.Leu1329Arg)
c.3984-38T>G (n.3984-38T>G)
c.3632T>G (p.Leu1211Arg)
c.2321T>G (p.Leu774Arg)
dbSNP gnomAD v3 gnomAD v4
1g.11788205T=CA1153786997C1orf167,MTHFRc.3404T= (p.Leu1135=)
c.3905T= (p.Leu1302=)
c.*2475A= (n.*2475A=)
c.2040T=
c.4569A= (n.4569A=)
c.3962T= (p.Leu1321=)
c.1404T=
c.1178-38T=
n.237-38T=
c.4040T= (p.Leu1347=)
c.3986T= (p.Leu1329=)
c.3984-38T= (n.3984-38T=)
c.3632T= (p.Leu1211=)
c.2321T= (p.Leu774=)
1g.11788206T>ACA416361735C1orf167,MTHFRc.3405T>A (p.Leu1135=)
c.3906T>A (p.Leu1302=)
c.*2474A>T (n.*2474A>T)
c.2041T>A
c.4568A>T (n.4568A>T)
c.3963T>A (p.Leu1321=)
c.1405T>A
c.1178-37T>A
n.237-37T>A
c.4041T>A (p.Leu1347=)
c.3987T>A (p.Leu1329=)
c.3984-37T>A (n.3984-37T>A)
c.3633T>A (p.Leu1211=)
c.2322T>A (p.Leu774=)
1g.11788206T>CCA416361736C1orf167,MTHFRc.3405T>C (p.Leu1135=)
c.3906T>C (p.Leu1302=)
c.*2474A>G (n.*2474A>G)
c.2041T>C
c.4568A>G (n.4568A>G)
c.3963T>C (p.Leu1321=)
c.1405T>C
c.1178-37T>C
n.237-37T>C
c.4041T>C (p.Leu1347=)
c.3987T>C (p.Leu1329=)
c.3984-37T>C (n.3984-37T>C)
c.3633T>C (p.Leu1211=)
c.2322T>C (p.Leu774=)
gnomAD v4
1g.11788206T>GCA416361737C1orf167,MTHFRc.3405T>G (p.Leu1135=)
c.3906T>G (p.Leu1302=)
c.*2474A>C (n.*2474A>C)
c.2041T>G
c.4568A>C (n.4568A>C)
c.3963T>G (p.Leu1321=)
c.1405T>G
c.1178-37T>G
n.237-37T>G
c.4041T>G (p.Leu1347=)
c.3987T>G (p.Leu1329=)
c.3984-37T>G (n.3984-37T>G)
c.3633T>G (p.Leu1211=)
c.2322T>G (p.Leu774=)
1g.11788207C>ACA338470151C1orf167,MTHFRc.3406C>A (p.Leu1136Met)
c.3907C>A (p.Leu1303Met)
c.*2473G>T (n.*2473G>T)
c.2042C>A
c.4567G>T (n.4567G>T)
c.3964C>A (p.Leu1322Met)
c.1406C>A
c.1178-36C>A
n.237-36C>A
c.4042C>A (p.Leu1348Met)
c.3988C>A (p.Leu1330Met)
c.3984-36C>A (n.3984-36C>A)
c.3634C>A (p.Leu1212Met)
c.2323C>A (p.Leu775Met)
gnomAD v4
1g.11788207C>GCA338470152C1orf167,MTHFRc.3406C>G (p.Leu1136Val)
c.3907C>G (p.Leu1303Val)
c.*2473G>C (n.*2473G>C)
c.2042C>G
c.4567G>C (n.4567G>C)
c.3964C>G (p.Leu1322Val)
c.1406C>G
c.1178-36C>G
n.237-36C>G
c.4042C>G (p.Leu1348Val)
c.3988C>G (p.Leu1330Val)
c.3984-36C>G (n.3984-36C>G)
c.3634C>G (p.Leu1212Val)
c.2323C>G (p.Leu775Val)
1g.11788207C>TCA416361738C1orf167,MTHFRc.3406C>T (p.Leu1136=)
c.3907C>T (p.Leu1303=)
c.*2473G>A (n.*2473G>A)
c.2042C>T
c.4567G>A (n.4567G>A)
c.3964C>T (p.Leu1322=)
c.1406C>T
c.1178-36C>T
n.237-36C>T
c.4042C>T (p.Leu1348=)
c.3988C>T (p.Leu1330=)
c.3984-36C>T (n.3984-36C>T)
c.3634C>T (p.Leu1212=)
c.2323C>T (p.Leu775=)
1g.11788208T>ACA338470153C1orf167,MTHFRc.3407T>A (p.Leu1136Gln)
c.3908T>A (p.Leu1303Gln)
c.*2472A>T (n.*2472A>T)
c.2043T>A
c.4566A>T (n.4566A>T)
c.3965T>A (p.Leu1322Gln)
c.1407T>A
c.1178-35T>A
n.237-35T>A
c.4043T>A (p.Leu1348Gln)
c.3989T>A (p.Leu1330Gln)
c.3984-35T>A (n.3984-35T>A)
c.3635T>A (p.Leu1212Gln)
c.2324T>A (p.Leu775Gln)
1g.11788208T>CCA338470154C1orf167,MTHFRc.3407T>C (p.Leu1136Pro)
c.3908T>C (p.Leu1303Pro)
c.*2472A>G (n.*2472A>G)
c.2043T>C
c.4566A>G (n.4566A>G)
c.3965T>C (p.Leu1322Pro)
c.1407T>C
c.1178-35T>C
n.237-35T>C
c.4043T>C (p.Leu1348Pro)
c.3989T>C (p.Leu1330Pro)
c.3984-35T>C (n.3984-35T>C)
c.3635T>C (p.Leu1212Pro)
c.2324T>C (p.Leu775Pro)
1g.11788208T>GCA338470155C1orf167,MTHFRc.3407T>G (p.Leu1136Arg)
c.3908T>G (p.Leu1303Arg)
c.*2472A>C (n.*2472A>C)
c.2043T>G
c.4566A>C (n.4566A>C)
c.3965T>G (p.Leu1322Arg)
c.1407T>G
c.1178-35T>G
n.237-35T>G
c.4043T>G (p.Leu1348Arg)
c.3989T>G (p.Leu1330Arg)
c.3984-35T>G (n.3984-35T>G)
c.3635T>G (p.Leu1212Arg)
c.2324T>G (p.Leu775Arg)
1g.11788209G>ACA416361739C1orf167,MTHFRc.3408G>A (p.Leu1136=)
c.3909G>A (p.Leu1303=)
c.*2471C>T (n.*2471C>T)
c.2044G>A
c.4565C>T (n.4565C>T)
c.3966G>A (p.Leu1322=)
c.1408G>A
c.1178-34G>A
n.237-34G>A
c.4044G>A (p.Leu1348=)
c.3990G>A (p.Leu1330=)
c.3984-34G>A (n.3984-34G>A)
c.3636G>A (p.Leu1212=)
c.2325G>A (p.Leu775=)
1g.11788209G>CCA416361740C1orf167,MTHFRc.3408G>C (p.Leu1136=)
c.3909G>C (p.Leu1303=)
c.*2471C>G (n.*2471C>G)
c.2044G>C
c.4565C>G (n.4565C>G)
c.3966G>C (p.Leu1322=)
c.1408G>C
c.1178-34G>C
n.237-34G>C
c.4044G>C (p.Leu1348=)
c.3990G>C (p.Leu1330=)
c.3984-34G>C (n.3984-34G>C)
c.3636G>C (p.Leu1212=)
c.2325G>C (p.Leu775=)
1g.11788209G>TCA416361741C1orf167,MTHFRc.3408G>T (p.Leu1136=)
c.3909G>T (p.Leu1303=)
c.*2471C>A (n.*2471C>A)
c.2044G>T
c.4565C>A (n.4565C>A)
c.3966G>T (p.Leu1322=)
c.1408G>T
c.1178-34G>T
n.237-34G>T
c.4044G>T (p.Leu1348=)
c.3990G>T (p.Leu1330=)
c.3984-34G>T (n.3984-34G>T)
c.3636G>T (p.Leu1212=)
c.2325G>T (p.Leu775=)
1g.11788210G>ACA338470156C1orf167,MTHFRc.3409G>A (p.Ala1137Thr)
c.3910G>A (p.Ala1304Thr)
c.*2470C>T (n.*2470C>T)
c.2045G>A
c.4564C>T (n.4564C>T)
c.3967G>A (p.Ala1323Thr)
c.1409G>A
c.1178-33G>A
n.237-33G>A
c.4045G>A (p.Ala1349Thr)
c.3991G>A (p.Ala1331Thr)
c.3984-33G>A (n.3984-33G>A)
c.3637G>A (p.Ala1213Thr)
c.2326G>A (p.Ala776Thr)
1g.11788210G>CCA338470158C1orf167,MTHFRc.3409G>C (p.Ala1137Pro)
c.3910G>C (p.Ala1304Pro)
c.*2470C>G (n.*2470C>G)
c.2045G>C
c.4564C>G (n.4564C>G)
c.3967G>C (p.Ala1323Pro)
c.1409G>C
c.1178-33G>C
n.237-33G>C
c.4045G>C (p.Ala1349Pro)
c.3991G>C (p.Ala1331Pro)
c.3984-33G>C (n.3984-33G>C)
c.3637G>C (p.Ala1213Pro)
c.2326G>C (p.Ala776Pro)
1g.11788210G>TCA338470157C1orf167,MTHFRc.3409G>T (p.Ala1137Ser)
c.3910G>T (p.Ala1304Ser)
c.*2470C>A (n.*2470C>A)
c.2045G>T
c.4564C>A (n.4564C>A)
c.3967G>T (p.Ala1323Ser)
c.1409G>T
c.1178-33G>T
n.237-33G>T
c.4045G>T (p.Ala1349Ser)
c.3991G>T (p.Ala1331Ser)
c.3984-33G>T (n.3984-33G>T)
c.3637G>T (p.Ala1213Ser)
c.2326G>T (p.Ala776Ser)
1g.11788211C>ACA338470159C1orf167,MTHFRc.3410C>A (p.Ala1137Asp)
c.3911C>A (p.Ala1304Asp)
c.*2469G>T (n.*2469G>T)
c.2046C>A
c.4563G>T (n.4563G>T)
c.3968C>A (p.Ala1323Asp)
c.1410C>A
c.1178-32C>A
n.237-32C>A
c.4046C>A (p.Ala1349Asp)
c.3992C>A (p.Ala1331Asp)
c.3984-32C>A (n.3984-32C>A)
c.3638C>A (p.Ala1213Asp)
c.2327C>A (p.Ala776Asp)
gnomAD v4
1g.11788211C>GCA338470161C1orf167,MTHFRc.3410C>G (p.Ala1137Gly)
c.3911C>G (p.Ala1304Gly)
c.*2469G>C (n.*2469G>C)
c.2046C>G
c.4563G>C (n.4563G>C)
c.3968C>G (p.Ala1323Gly)
c.1410C>G
c.1178-32C>G
n.237-32C>G
c.4046C>G (p.Ala1349Gly)
c.3992C>G (p.Ala1331Gly)
c.3984-32C>G (n.3984-32C>G)
c.3638C>G (p.Ala1213Gly)
c.2327C>G (p.Ala776Gly)
1g.11788211C>TCA338470160C1orf167,MTHFRc.3410C>T (p.Ala1137Val)
c.3911C>T (p.Ala1304Val)
c.*2469G>A (n.*2469G>A)
c.2046C>T
c.4563G>A (n.4563G>A)
c.3968C>T (p.Ala1323Val)
c.1410C>T
c.1178-32C>T
n.237-32C>T
c.4046C>T (p.Ala1349Val)
c.3992C>T (p.Ala1331Val)
c.3984-32C>T (n.3984-32C>T)
c.3638C>T (p.Ala1213Val)
c.2327C>T (p.Ala776Val)
1g.11788212C>ACA416361742C1orf167,MTHFRc.3411C>A (p.Ala1137=)
c.3912C>A (p.Ala1304=)
c.*2468G>T (n.*2468G>T)
c.2047C>A
c.4562G>T (n.4562G>T)
c.3969C>A (p.Ala1323=)
c.1411C>A
c.1178-31C>A
n.237-31C>A
c.4047C>A (p.Ala1349=)
c.3993C>A (p.Ala1331=)
c.3984-31C>A (n.3984-31C>A)
c.3639C>A (p.Ala1213=)
c.2328C>A (p.Ala776=)
gnomAD v4
1g.11788212C>GCA416361743C1orf167,MTHFRc.3411C>G (p.Ala1137=)
c.3912C>G (p.Ala1304=)
c.*2468G>C (n.*2468G>C)
c.2047C>G
c.4562G>C (n.4562G>C)
c.3969C>G (p.Ala1323=)
c.1411C>G
c.1178-31C>G
n.237-31C>G
c.4047C>G (p.Ala1349=)
c.3993C>G (p.Ala1331=)
c.3984-31C>G (n.3984-31C>G)
c.3639C>G (p.Ala1213=)
c.2328C>G (p.Ala776=)
1g.11788212C>TCA416361744C1orf167,MTHFRc.3411C>T (p.Ala1137=)
c.3912C>T (p.Ala1304=)
c.*2468G>A (n.*2468G>A)
c.2047C>T
c.4562G>A (n.4562G>A)
c.3969C>T (p.Ala1323=)
c.1411C>T
c.1178-31C>T
n.237-31C>T
c.4047C>T (p.Ala1349=)
c.3993C>T (p.Ala1331=)
c.3984-31C>T (n.3984-31C>T)
c.3639C>T (p.Ala1213=)
c.2328C>T (p.Ala776=)
1g.11788213C>ACA338470162C1orf167,MTHFRc.3412C>A (p.Leu1138Met)
c.3913C>A (p.Leu1305Met)
c.*2467G>T (n.*2467G>T)
c.2048C>A
c.4561G>T (n.4561G>T)
c.3970C>A (p.Leu1324Met)
c.1412C>A
c.1178-30C>A
n.237-30C>A
c.4048C>A (p.Leu1350Met)
c.3994C>A (p.Leu1332Met)
c.3984-30C>A (n.3984-30C>A)
c.3640C>A (p.Leu1214Met)
c.2329C>A (p.Leu777Met)
1g.11788213C>GCA338470163C1orf167,MTHFRc.3412C>G (p.Leu1138Val)
c.3913C>G (p.Leu1305Val)
c.*2467G>C (n.*2467G>C)
c.2048C>G
c.4561G>C (n.4561G>C)
c.3970C>G (p.Leu1324Val)
c.1412C>G
c.1178-30C>G
n.237-30C>G
c.4048C>G (p.Leu1350Val)
c.3994C>G (p.Leu1332Val)
c.3984-30C>G (n.3984-30C>G)
c.3640C>G (p.Leu1214Val)
c.2329C>G (p.Leu777Val)
gnomAD v4
1g.11788213C>TCA416361745C1orf167,MTHFRc.3412C>T (p.Leu1138=)
c.3913C>T (p.Leu1305=)
c.*2467G>A (n.*2467G>A)
c.2048C>T
c.4561G>A (n.4561G>A)
c.3970C>T (p.Leu1324=)
c.1412C>T
c.1178-30C>T
n.237-30C>T
c.4048C>T (p.Leu1350=)
c.3994C>T (p.Leu1332=)
c.3984-30C>T (n.3984-30C>T)
c.3640C>T (p.Leu1214=)
c.2329C>T (p.Leu777=)
gnomAD v4
1g.11788214T>ACA338470164C1orf167,MTHFRc.3413T>A (p.Leu1138Gln)
c.3914T>A (p.Leu1305Gln)
c.*2466A>T (n.*2466A>T)
c.2049T>A
c.4560A>T (n.4560A>T)
c.3971T>A (p.Leu1324Gln)
c.1413T>A
c.1178-29T>A
n.237-29T>A
c.4049T>A (p.Leu1350Gln)
c.3995T>A (p.Leu1332Gln)
c.3984-29T>A (n.3984-29T>A)
c.3641T>A (p.Leu1214Gln)
c.2330T>A (p.Leu777Gln)
1g.11788214T>CCA338470165C1orf167,MTHFRc.3413T>C (p.Leu1138Pro)
c.3914T>C (p.Leu1305Pro)
c.*2466A>G (n.*2466A>G)
c.2049T>C
c.4560A>G (n.4560A>G)
c.3971T>C (p.Leu1324Pro)
c.1413T>C
c.1178-29T>C
n.237-29T>C
c.4049T>C (p.Leu1350Pro)
c.3995T>C (p.Leu1332Pro)
c.3984-29T>C (n.3984-29T>C)
c.3641T>C (p.Leu1214Pro)
c.2330T>C (p.Leu777Pro)
1g.11788214T>GCA338470166C1orf167,MTHFRc.3413T>G (p.Leu1138Arg)
c.3914T>G (p.Leu1305Arg)
c.*2466A>C (n.*2466A>C)
c.2049T>G
c.4560A>C (n.4560A>C)
c.3971T>G (p.Leu1324Arg)
c.1413T>G
c.1178-29T>G
n.237-29T>G
c.4049T>G (p.Leu1350Arg)
c.3995T>G (p.Leu1332Arg)
c.3984-29T>G (n.3984-29T>G)
c.3641T>G (p.Leu1214Arg)
c.2330T>G (p.Leu777Arg)
1g.11788215G>ACA416361746C1orf167,MTHFRc.3414G>A (p.Leu1138=)
c.3915G>A (p.Leu1305=)
c.*2465C>T (n.*2465C>T)
c.2050G>A
c.4559C>T (n.4559C>T)
c.3972G>A (p.Leu1324=)
c.1414G>A
c.1178-28G>A
n.237-28G>A
c.4050G>A (p.Leu1350=)
c.3996G>A (p.Leu1332=)
c.3984-28G>A (n.3984-28G>A)
c.3642G>A (p.Leu1214=)
c.2331G>A (p.Leu777=)
dbSNP gnomAD v4
1g.11788215G>CCA416361747C1orf167,MTHFRc.3414G>C (p.Leu1138=)
c.3915G>C (p.Leu1305=)
c.*2465C>G (n.*2465C>G)
c.2050G>C
c.4559C>G (n.4559C>G)
c.3972G>C (p.Leu1324=)
c.1414G>C
c.1178-28G>C
n.237-28G>C
c.4050G>C (p.Leu1350=)
c.3996G>C (p.Leu1332=)
c.3984-28G>C (n.3984-28G>C)
c.3642G>C (p.Leu1214=)
c.2331G>C (p.Leu777=)
1g.11788215G=CA1153787003C1orf167,MTHFRc.3414G= (p.Leu1138=)
c.3915G= (p.Leu1305=)
c.*2465C= (n.*2465C=)
c.2050G=
c.4559C= (n.4559C=)
c.3972G= (p.Leu1324=)
c.1414G=
c.1178-28G=
n.237-28G=
c.4050G= (p.Leu1350=)
c.3996G= (p.Leu1332=)
c.3984-28G= (n.3984-28G=)
c.3642G= (p.Leu1214=)
c.2331G= (p.Leu777=)
1g.11788215G>TCA416361748C1orf167,MTHFRc.3414G>T (p.Leu1138=)
c.3915G>T (p.Leu1305=)
c.*2465C>A (n.*2465C>A)
c.2050G>T
c.4559C>A (n.4559C>A)
c.3972G>T (p.Leu1324=)
c.1414G>T
c.1178-28G>T
n.237-28G>T
c.4050G>T (p.Leu1350=)
c.3996G>T (p.Leu1332=)
c.3984-28G>T (n.3984-28G>T)
c.3642G>T (p.Leu1214=)
c.2331G>T (p.Leu777=)
dbSNP gnomAD v2 gnomAD v4
1g.11788216A>CCA338470167C1orf167,MTHFRc.3415A>C (p.Lys1139Gln)
c.3916A>C (p.Lys1306Gln)
c.*2464T>G (n.*2464T>G)
c.2051A>C
c.4558T>G (n.4558T>G)
c.3973A>C (p.Lys1325Gln)
c.1415A>C
c.1178-27A>C
n.237-27A>C
c.4051A>C (p.Lys1351Gln)
c.3997A>C (p.Lys1333Gln)
c.3984-27A>C (n.3984-27A>C)
c.3643A>C (p.Lys1215Gln)
c.2332A>C (p.Lys778Gln)
1g.11788216A>GCA338470168C1orf167,MTHFRc.3415A>G (p.Lys1139Glu)
c.3916A>G (p.Lys1306Glu)
c.*2464T>C (n.*2464T>C)
c.2051A>G
c.4558T>C (n.4558T>C)
c.3973A>G (p.Lys1325Glu)
c.1415A>G
c.1178-27A>G
n.237-27A>G
c.4051A>G (p.Lys1351Glu)
c.3997A>G (p.Lys1333Glu)
c.3984-27A>G (n.3984-27A>G)
c.3643A>G (p.Lys1215Glu)
c.2332A>G (p.Lys778Glu)
1g.11788216A>TCA338470169C1orf167,MTHFRc.3415A>T (p.Lys1139Ter)
c.3916A>T (p.Lys1306Ter)
c.*2464T>A (n.*2464T>A)
c.2051A>T
c.4558T>A (n.4558T>A)
c.3973A>T (p.Lys1325Ter)
c.1415A>T
c.1178-27A>T
n.237-27A>T
c.4051A>T (p.Lys1351Ter)
c.3997A>T (p.Lys1333Ter)
c.3984-27A>T (n.3984-27A>T)
c.3643A>T (p.Lys1215Ter)
c.2332A>T (p.Lys778Ter)
1g.11788216_11788219delinsAAGGCA1153787012C1orf167,MTHFRc.3415_3418delinsAAGG (p.Lys1139=)
c.3916_3919delinsAAGG (p.Lys1306=)
c.*2461_*2464delinsCCTT (n.*2461_*2464delinsCCTT)
c.2051_2054delinsAAGG
c.4555_4558delinsCCTT (n.4555_4558delinsCCTT)
c.3973_3976delinsAAGG (p.Lys1325=)
c.1415_1418delinsAAGG
c.1178-27_1178-24delinsAAGG
n.237-27_237-24delinsAAGG
c.4051_4054delinsAAGG (p.Lys1351=)
c.3997_4000delinsAAGG (p.Lys1333=)
c.3984-27_3984-24delinsAAGG (n.3984-27_3984-24delinsAAGG)
c.3643_3646delinsAAGG (p.Lys1215=)
c.2332_2335delinsAAGG (p.Lys778=)
1g.11788217A=CA1153787021C1orf167,MTHFRc.3416A= (p.Lys1139=)
c.3917A= (p.Lys1306=)
c.*2463T= (n.*2463T=)
c.2052A=
c.4557T= (n.4557T=)
c.3974A= (p.Lys1325=)
c.1416A=
c.1178-26A=
n.237-26A=
c.4052A= (p.Lys1351=)
c.3998A= (p.Lys1333=)
c.3984-26A= (n.3984-26A=)
c.3644A= (p.Lys1215=)
c.2333A= (p.Lys778=)
1g.11788217A>CCA338470170C1orf167,MTHFRc.3416A>C (p.Lys1139Thr)
c.3917A>C (p.Lys1306Thr)
c.*2463T>G (n.*2463T>G)
c.2052A>C
c.4557T>G (n.4557T>G)
c.3974A>C (p.Lys1325Thr)
c.1416A>C
c.1178-26A>C
n.237-26A>C
c.4052A>C (p.Lys1351Thr)
c.3998A>C (p.Lys1333Thr)
c.3984-26A>C (n.3984-26A>C)
c.3644A>C (p.Lys1215Thr)
c.2333A>C (p.Lys778Thr)
dbSNP gnomAD v2 gnomAD v4
1g.11788217A>GCA338470171C1orf167,MTHFRc.3416A>G (p.Lys1139Arg)
c.3917A>G (p.Lys1306Arg)
c.*2463T>C (n.*2463T>C)
c.2052A>G
c.4557T>C (n.4557T>C)
c.3974A>G (p.Lys1325Arg)
c.1416A>G
c.1178-26A>G
n.237-26A>G
c.4052A>G (p.Lys1351Arg)
c.3998A>G (p.Lys1333Arg)
c.3984-26A>G (n.3984-26A>G)
c.3644A>G (p.Lys1215Arg)
c.2333A>G (p.Lys778Arg)
1g.11788217A>TCA338470172C1orf167,MTHFRc.3416A>T (p.Lys1139Met)
c.3917A>T (p.Lys1306Met)
c.*2463T>A (n.*2463T>A)
c.2052A>T
c.4557T>A (n.4557T>A)
c.3974A>T (p.Lys1325Met)
c.1416A>T
c.1178-26A>T
n.237-26A>T
c.4052A>T (p.Lys1351Met)
c.3998A>T (p.Lys1333Met)
c.3984-26A>T (n.3984-26A>T)
c.3644A>T (p.Lys1215Met)
c.2333A>T (p.Lys778Met)
1g.11788217_11788219delCA1153787019C1orf167,MTHFRc.3416_3418del (p.Lys1139_Gly1140delinsSer)
c.3917_3919del (p.Lys1306_Gly1307delinsSer)
c.*2461_*2463del (n.*2461_*2463del)
c.2052_2054del
c.4555_4557del (n.4555_4557del)
c.3974_3976del (p.Lys1325_Gly1326delinsSer)
c.1416_1418del
c.1178-26_1178-24del
n.237-26_237-24del
c.4052_4054del (p.Lys1351_Gly1352delinsSer)
c.3998_4000del (p.Lys1333_Gly1334delinsSer)
c.3984-26_3984-24del (n.3984-26_3984-24del)
c.3644_3646del (p.Lys1215_Gly1216delinsSer)
c.2333_2335del (p.Lys778_Gly779delinsSer)
dbSNP
1g.11788218G>ACA416361749C1orf167,MTHFRc.3417G>A (p.Lys1139=)
c.3918G>A (p.Lys1306=)
c.*2462C>T (n.*2462C>T)
c.2053G>A
c.4556C>T (n.4556C>T)
c.3975G>A (p.Lys1325=)
c.1417G>A
c.1178-25G>A
n.237-25G>A
c.4053G>A (p.Lys1351=)
c.3999G>A (p.Lys1333=)
c.3984-25G>A (n.3984-25G>A)
c.3645G>A (p.Lys1215=)
c.2334G>A (p.Lys778=)
1g.11788218G>CCA338470173C1orf167,MTHFRc.3417G>C (p.Lys1139Asn)
c.3918G>C (p.Lys1306Asn)
c.*2462C>G (n.*2462C>G)
c.2053G>C
c.4556C>G (n.4556C>G)
c.3975G>C (p.Lys1325Asn)
c.1417G>C
c.1178-25G>C
n.237-25G>C
c.4053G>C (p.Lys1351Asn)
c.3999G>C (p.Lys1333Asn)
c.3984-25G>C (n.3984-25G>C)
c.3645G>C (p.Lys1215Asn)
c.2334G>C (p.Lys778Asn)
1g.11788218G>TCA338470174C1orf167,MTHFRc.3417G>T (p.Lys1139Asn)
c.3918G>T (p.Lys1306Asn)
c.*2462C>A (n.*2462C>A)
c.2053G>T
c.4556C>A (n.4556C>A)
c.3975G>T (p.Lys1325Asn)
c.1417G>T
c.1178-25G>T
n.237-25G>T
c.4053G>T (p.Lys1351Asn)
c.3999G>T (p.Lys1333Asn)
c.3984-25G>T (n.3984-25G>T)
c.3645G>T (p.Lys1215Asn)
c.2334G>T (p.Lys778Asn)
1g.11788220delCA2643295635C1orf167,MTHFRc.3419del (p.Gly1140ValfsTer?)
c.3920del (p.Gly1307ValfsTer?)
c.*2462del (n.*2462del)
c.2055del
c.4556del (n.4556del)
c.3977del (p.Gly1326ValfsTer?)
c.1419del
c.1178-23del
n.237-23del
c.4055del (p.Gly1352ValfsTer?)
c.4001del (p.Gly1334ValfsTer?)
c.3984-23del (n.3984-23del)
c.3647del (p.Gly1216ValfsTer?)
c.2336del (p.Gly779ValfsTer?)
gnomAD v4
1g.11788219G>ACA338470175C1orf167,MTHFRc.3418G>A (p.Gly1140Ser)
c.3919G>A (p.Gly1307Ser)
c.*2461C>T (n.*2461C>T)
c.2054G>A
c.4555C>T (n.4555C>T)
c.3976G>A (p.Gly1326Ser)
c.1418G>A
c.1178-24G>A
n.237-24G>A
c.4054G>A (p.Gly1352Ser)
c.4000G>A (p.Gly1334Ser)
c.3984-24G>A (n.3984-24G>A)
c.3646G>A (p.Gly1216Ser)
c.2335G>A (p.Gly779Ser)
1g.11788219G>CCA338470177C1orf167,MTHFRc.3418G>C (p.Gly1140Arg)
c.3919G>C (p.Gly1307Arg)
c.*2461C>G (n.*2461C>G)
c.2054G>C
c.4555C>G (n.4555C>G)
c.3976G>C (p.Gly1326Arg)
c.1418G>C
c.1178-24G>C
n.237-24G>C
c.4054G>C (p.Gly1352Arg)
c.4000G>C (p.Gly1334Arg)
c.3984-24G>C (n.3984-24G>C)
c.3646G>C (p.Gly1216Arg)
c.2335G>C (p.Gly779Arg)
dbSNP gnomAD v4
1g.11788219G=CA1153787027C1orf167,MTHFRc.3418G= (p.Gly1140=)
c.3919G= (p.Gly1307=)
c.*2461C= (n.*2461C=)
c.2054G=
c.4555C= (n.4555C=)
c.3976G= (p.Gly1326=)
c.1418G=
c.1178-24G=
n.237-24G=
c.4054G= (p.Gly1352=)
c.4000G= (p.Gly1334=)
c.3984-24G= (n.3984-24G=)
c.3646G= (p.Gly1216=)
c.2335G= (p.Gly779=)
1g.11788219G>TCA338470176C1orf167,MTHFRc.3418G>T (p.Gly1140Cys)
c.3919G>T (p.Gly1307Cys)
c.*2461C>A (n.*2461C>A)
c.2054G>T
c.4555C>A (n.4555C>A)
c.3976G>T (p.Gly1326Cys)
c.1418G>T
c.1178-24G>T
n.237-24G>T
c.4054G>T (p.Gly1352Cys)
c.4000G>T (p.Gly1334Cys)
c.3984-24G>T (n.3984-24G>T)
c.3646G>T (p.Gly1216Cys)
c.2335G>T (p.Gly779Cys)
dbSNP gnomAD v2 gnomAD v4
1g.11788220G>ACA338470178C1orf167,MTHFRc.3419G>A (p.Gly1140Asp)
c.3920G>A (p.Gly1307Asp)
c.*2460C>T (n.*2460C>T)
c.2055G>A
c.4554C>T (n.4554C>T)
c.3977G>A (p.Gly1326Asp)
c.1419G>A
c.1178-23G>A
n.237-23G>A
c.4055G>A (p.Gly1352Asp)
c.4001G>A (p.Gly1334Asp)
c.3984-23G>A (n.3984-23G>A)
c.3647G>A (p.Gly1216Asp)
c.2336G>A (p.Gly779Asp)
1g.11788220G>CCA338470179C1orf167,MTHFRc.3419G>C (p.Gly1140Ala)
c.3920G>C (p.Gly1307Ala)
c.*2460C>G (n.*2460C>G)
c.2055G>C
c.4554C>G (n.4554C>G)
c.3977G>C (p.Gly1326Ala)
c.1419G>C
c.1178-23G>C
n.237-23G>C
c.4055G>C (p.Gly1352Ala)
c.4001G>C (p.Gly1334Ala)
c.3984-23G>C (n.3984-23G>C)
c.3647G>C (p.Gly1216Ala)
c.2336G>C (p.Gly779Ala)
dbSNP gnomAD v4
1g.11788220G=CA1153787031C1orf167,MTHFRc.3419G= (p.Gly1140=)
c.3920G= (p.Gly1307=)
c.*2460C= (n.*2460C=)
c.2055G=
c.4554C= (n.4554C=)
c.3977G= (p.Gly1326=)
c.1419G=
c.1178-23G=
n.237-23G=
c.4055G= (p.Gly1352=)
c.4001G= (p.Gly1334=)
c.3984-23G= (n.3984-23G=)
c.3647G= (p.Gly1216=)
c.2336G= (p.Gly779=)
1g.11788220G>TCA338470180C1orf167,MTHFRc.3419G>T (p.Gly1140Val)
c.3920G>T (p.Gly1307Val)
c.*2460C>A (n.*2460C>A)
c.2055G>T
c.4554C>A (n.4554C>A)
c.3977G>T (p.Gly1326Val)
c.1419G>T
c.1178-23G>T
n.237-23G>T
c.4055G>T (p.Gly1352Val)
c.4001G>T (p.Gly1334Val)
c.3984-23G>T (n.3984-23G>T)
c.3647G>T (p.Gly1216Val)
c.2336G>T (p.Gly779Val)
1g.11788221T>ACA416361750C1orf167,MTHFRc.3420T>A (p.Gly1140=)
c.3921T>A (p.Gly1307=)
c.*2459A>T (n.*2459A>T)
c.2056T>A
c.4553A>T (n.4553A>T)
c.3978T>A (p.Gly1326=)
c.1420T>A
c.1178-22T>A
n.237-22T>A
c.4056T>A (p.Gly1352=)
c.4002T>A (p.Gly1334=)
c.3984-22T>A (n.3984-22T>A)
c.3648T>A (p.Gly1216=)
c.2337T>A (p.Gly779=)
1g.11788221T>CCA416361751C1orf167,MTHFRc.3420T>C (p.Gly1140=)
c.3921T>C (p.Gly1307=)
c.*2459A>G (n.*2459A>G)
c.2056T>C
c.4553A>G (n.4553A>G)
c.3978T>C (p.Gly1326=)
c.1420T>C
c.1178-22T>C
n.237-22T>C
c.4056T>C (p.Gly1352=)
c.4002T>C (p.Gly1334=)
c.3984-22T>C (n.3984-22T>C)
c.3648T>C (p.Gly1216=)
c.2337T>C (p.Gly779=)
gnomAD v4
1g.11788221T>GCA416361752C1orf167,MTHFRc.3420T>G (p.Gly1140=)
c.3921T>G (p.Gly1307=)
c.*2459A>C (n.*2459A>C)
c.2056T>G
c.4553A>C (n.4553A>C)
c.3978T>G (p.Gly1326=)
c.1420T>G
c.1178-22T>G
n.237-22T>G
c.4056T>G (p.Gly1352=)
c.4002T>G (p.Gly1334=)
c.3984-22T>G (n.3984-22T>G)
c.3648T>G (p.Gly1216=)
c.2337T>G (p.Gly779=)
1g.11788222C>ACA338470181C1orf167,MTHFRc.3421C>A (p.His1141Asn)
c.3922C>A (p.His1308Asn)
c.*2458G>T (n.*2458G>T)
c.2057C>A
c.4552G>T (n.4552G>T)
c.3979C>A (p.His1327Asn)
c.1421C>A
c.1178-21C>A
n.237-21C>A
c.4057C>A (p.His1353Asn)
c.4003C>A (p.His1335Asn)
c.3984-21C>A (n.3984-21C>A)
c.3649C>A (p.His1217Asn)
c.2338C>A (p.His780Asn)
1g.11788222C>GCA338470182C1orf167,MTHFRc.3421C>G (p.His1141Asp)
c.3922C>G (p.His1308Asp)
c.*2458G>C (n.*2458G>C)
c.2057C>G
c.4552G>C (n.4552G>C)
c.3979C>G (p.His1327Asp)
c.1421C>G
c.1178-21C>G
n.237-21C>G
c.4057C>G (p.His1353Asp)
c.4003C>G (p.His1335Asp)
c.3984-21C>G (n.3984-21C>G)
c.3649C>G (p.His1217Asp)
c.2338C>G (p.His780Asp)
1g.11788222C>TCA338470183C1orf167,MTHFRc.3421C>T (p.His1141Tyr)
c.3922C>T (p.His1308Tyr)
c.*2458G>A (n.*2458G>A)
c.2057C>T
c.4552G>A (n.4552G>A)
c.3979C>T (p.His1327Tyr)
c.1421C>T
c.1178-21C>T
n.237-21C>T
c.4057C>T (p.His1353Tyr)
c.4003C>T (p.His1335Tyr)
c.3984-21C>T (n.3984-21C>T)
c.3649C>T (p.His1217Tyr)
c.2338C>T (p.His780Tyr)
1g.11788223A=CA1153787037C1orf167,MTHFRc.3422A= (p.His1141=)
c.3923A= (p.His1308=)
c.*2457T= (n.*2457T=)
c.2058A=
c.4551T= (n.4551T=)
c.3980A= (p.His1327=)
c.1422A=
c.1178-20A=
n.237-20A=
c.4058A= (p.His1353=)
c.4004A= (p.His1335=)
c.3984-20A= (n.3984-20A=)
c.3650A= (p.His1217=)
c.2339A= (p.His780=)
1g.11788223A>CCA338470184C1orf167,MTHFRc.3422A>C (p.His1141Pro)
c.3923A>C (p.His1308Pro)
c.*2457T>G (n.*2457T>G)
c.2058A>C
c.4551T>G (n.4551T>G)
c.3980A>C (p.His1327Pro)
c.1422A>C
c.1178-20A>C
n.237-20A>C
c.4058A>C (p.His1353Pro)
c.4004A>C (p.His1335Pro)
c.3984-20A>C (n.3984-20A>C)
c.3650A>C (p.His1217Pro)
c.2339A>C (p.His780Pro)
1g.11788223A>GCA338470185C1orf167,MTHFRc.3422A>G (p.His1141Arg)
c.3923A>G (p.His1308Arg)
c.*2457T>C (n.*2457T>C)
c.2058A>G
c.4551T>C (n.4551T>C)
c.3980A>G (p.His1327Arg)
c.1422A>G
c.1178-20A>G
n.237-20A>G
c.4058A>G (p.His1353Arg)
c.4004A>G (p.His1335Arg)
c.3984-20A>G (n.3984-20A>G)
c.3650A>G (p.His1217Arg)
c.2339A>G (p.His780Arg)
1g.11788223A>TCA338470186C1orf167,MTHFRc.3422A>T (p.His1141Leu)
c.3923A>T (p.His1308Leu)
c.*2457T>A (n.*2457T>A)
c.2058A>T
c.4551T>A (n.4551T>A)
c.3980A>T (p.His1327Leu)
c.1422A>T
c.1178-20A>T
n.237-20A>T
c.4058A>T (p.His1353Leu)
c.4004A>T (p.His1335Leu)
c.3984-20A>T (n.3984-20A>T)
c.3650A>T (p.His1217Leu)
c.2339A>T (p.His780Leu)
1g.11788224C>ACA338470188C1orf167,MTHFRc.3423C>A (p.His1141Gln)
c.3924C>A (p.His1308Gln)
c.*2456G>T (n.*2456G>T)
c.2059C>A
c.4550G>T (n.4550G>T)
c.3981C>A (p.His1327Gln)
c.1423C>A
c.1178-19C>A
n.237-19C>A
c.4059C>A (p.His1353Gln)
c.4005C>A (p.His1335Gln)
c.3984-19C>A (n.3984-19C>A)
c.3651C>A (p.His1217Gln)
c.2340C>A (p.His780Gln)
1g.11788224C=CA1153787042C1orf167,MTHFRc.3423C= (p.His1141=)
c.3924C= (p.His1308=)
c.*2456G= (n.*2456G=)
c.2059C=
c.4550G= (n.4550G=)
c.3981C= (p.His1327=)
c.1423C=
c.1178-19C=
n.237-19C=
c.4059C= (p.His1353=)
c.4005C= (p.His1335=)
c.3984-19C= (n.3984-19C=)
c.3651C= (p.His1217=)
c.2340C= (p.His780=)
1g.11788224C>GCA338470187C1orf167,MTHFRc.3423C>G (p.His1141Gln)
c.3924C>G (p.His1308Gln)
c.*2456G>C (n.*2456G>C)
c.2059C>G
c.4550G>C (n.4550G>C)
c.3981C>G (p.His1327Gln)
c.1423C>G
c.1178-19C>G
n.237-19C>G
c.4059C>G (p.His1353Gln)
c.4005C>G (p.His1335Gln)
c.3984-19C>G (n.3984-19C>G)
c.3651C>G (p.His1217Gln)
c.2340C>G (p.His780Gln)
1g.11788224C>TCA595079C1orf167,MTHFRc.3423C>T (p.His1141=)
c.3924C>T (p.His1308=)
c.*2456G>A (n.*2456G>A)
c.2059C>T
c.4550G>A (n.4550G>A)
c.3981C>T (p.His1327=)
c.1423C>T
c.1178-19C>T
n.237-19C>T
c.4059C>T (p.His1353=)
c.4005C>T (p.His1335=)
c.3984-19C>T (n.3984-19C>T)
c.3651C>T (p.His1217=)
c.2340C>T (p.His780=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11788224_11788227dupCA886036683C1orf167,MTHFRc.3423_3426dup (p.Ala1143ArgfsTer?)
c.3924_3927dup (p.Ala1310ArgfsTer?)
c.*2453_*2456dup (n.*2453_*2456dup)
c.2059_2062dup
c.4547_4550dup (n.4547_4550dup)
c.3981_3984dup (p.Ala1329ArgfsTer?)
c.1423_1426dup
c.1178-19_1178-16dup
n.237-19_237-16dup
c.4059_4062dup (p.Ala1355ArgfsTer?)
c.4005_4008dup (p.Ala1337ArgfsTer?)
c.3984-19_3984-16dup (n.3984-19_3984-16dup)
c.3651_3654dup (p.Ala1219ArgfsTer?)
c.2340_2343dup (p.Ala782ArgfsTer?)
dbSNP
1g.11788225G>ACA595080C1orf167,MTHFRc.3424G>A (p.Asp1142Asn)
c.3925G>A (p.Asp1309Asn)
c.*2455C>T (n.*2455C>T)
c.2060G>A
c.4549C>T (n.4549C>T)
c.3982G>A (p.Asp1328Asn)
c.1424G>A
c.1178-18G>A
n.237-18G>A
c.4060G>A (p.Asp1354Asn)
c.4006G>A (p.Asp1336Asn)
c.3984-18G>A (n.3984-18G>A)
c.3652G>A (p.Asp1218Asn)
c.2341G>A (p.Asp781Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.11788225G>CCA338470189C1orf167,MTHFRc.3424G>C (p.Asp1142His)
c.3925G>C (p.Asp1309His)
c.*2455C>G (n.*2455C>G)
c.2060G>C
c.4549C>G (n.4549C>G)
c.3982G>C (p.Asp1328His)
c.1424G>C
c.1178-18G>C
n.237-18G>C
c.4060G>C (p.Asp1354His)
c.4006G>C (p.Asp1336His)
c.3984-18G>C (n.3984-18G>C)
c.3652G>C (p.Asp1218His)
c.2341G>C (p.Asp781His)
dbSNP
1g.11788225G=CA1153787051C1orf167,MTHFRc.3424G= (p.Asp1142=)
c.3925G= (p.Asp1309=)
c.*2455C= (n.*2455C=)
c.2060G=
c.4549C= (n.4549C=)
c.3982G= (p.Asp1328=)
c.1424G=
c.1178-18G=
n.237-18G=
c.4060G= (p.Asp1354=)
c.4006G= (p.Asp1336=)
c.3984-18G= (n.3984-18G=)
c.3652G= (p.Asp1218=)
c.2341G= (p.Asp781=)
1g.11788225G>TCA338470190C1orf167,MTHFRc.3424G>T (p.Asp1142Tyr)
c.3925G>T (p.Asp1309Tyr)
c.*2455C>A (n.*2455C>A)
c.2060G>T
c.4549C>A (n.4549C>A)
c.3982G>T (p.Asp1328Tyr)
c.1424G>T
c.1178-18G>T
n.237-18G>T
c.4060G>T (p.Asp1354Tyr)
c.4006G>T (p.Asp1336Tyr)
c.3984-18G>T (n.3984-18G>T)
c.3652G>T (p.Asp1218Tyr)
c.2341G>T (p.Asp781Tyr)
1g.11788226A>CCA338470191C1orf167,MTHFRc.3425A>C (p.Asp1142Ala)
c.3926A>C (p.Asp1309Ala)
c.*2454T>G (n.*2454T>G)
c.2061A>C
c.4548T>G (n.4548T>G)
c.3983A>C (p.Asp1328Ala)
c.1425A>C
c.1178-17A>C
n.237-17A>C
c.4061A>C (p.Asp1354Ala)
c.4007A>C (p.Asp1336Ala)
c.3984-17A>C (n.3984-17A>C)
c.3653A>C (p.Asp1218Ala)
c.2342A>C (p.Asp781Ala)
1g.11788226A>GCA338470192C1orf167,MTHFRc.3425A>G (p.Asp1142Gly)
c.3926A>G (p.Asp1309Gly)
c.*2454T>C (n.*2454T>C)
c.2061A>G
c.4548T>C (n.4548T>C)
c.3983A>G (p.Asp1328Gly)
c.1425A>G
c.1178-17A>G
n.237-17A>G
c.4061A>G (p.Asp1354Gly)
c.4007A>G (p.Asp1336Gly)
c.3984-17A>G (n.3984-17A>G)
c.3653A>G (p.Asp1218Gly)
c.2342A>G (p.Asp781Gly)
1g.11788226A>TCA338470193C1orf167,MTHFRc.3425A>T (p.Asp1142Val)
c.3926A>T (p.Asp1309Val)
c.*2454T>A (n.*2454T>A)
c.2061A>T
c.4548T>A (n.4548T>A)
c.3983A>T (p.Asp1328Val)
c.1425A>T
c.1178-17A>T
n.237-17A>T
c.4061A>T (p.Asp1354Val)
c.4007A>T (p.Asp1336Val)
c.3984-17A>T (n.3984-17A>T)
c.3653A>T (p.Asp1218Val)
c.2342A>T (p.Asp781Val)
1g.11788227T>ACA338470195C1orf167,MTHFRc.3426T>A (p.Asp1142Glu)
c.3927T>A (p.Asp1309Glu)
c.*2453A>T (n.*2453A>T)
c.2062T>A
c.4547A>T (n.4547A>T)
c.3984T>A (p.Asp1328Glu)
c.1426T>A
c.1178-16T>A
n.237-16T>A
c.4062T>A (p.Asp1354Glu)
c.4008T>A (p.Asp1336Glu)
c.3984-16T>A (n.3984-16T>A)
c.3654T>A (p.Asp1218Glu)
c.2343T>A (p.Asp781Glu)
1g.11788227T>CCA416361753C1orf167,MTHFRc.3426T>C (p.Asp1142=)
c.3927T>C (p.Asp1309=)
c.*2453A>G (n.*2453A>G)
c.2062T>C
c.4547A>G (n.4547A>G)
c.3984T>C (p.Asp1328=)
c.1426T>C
c.1178-16T>C
n.237-16T>C
c.4062T>C (p.Asp1354=)
c.4008T>C (p.Asp1336=)
c.3984-16T>C (n.3984-16T>C)
c.3654T>C (p.Asp1218=)
c.2343T>C (p.Asp781=)
1g.11788227T>GCA338470194C1orf167,MTHFRc.3426T>G (p.Asp1142Glu)
c.3927T>G (p.Asp1309Glu)
c.*2453A>C (n.*2453A>C)
c.2062T>G
c.4547A>C (n.4547A>C)
c.3984T>G (p.Asp1328Glu)
c.1426T>G
c.1178-16T>G
n.237-16T>G
c.4062T>G (p.Asp1354Glu)
c.4008T>G (p.Asp1336Glu)
c.3984-16T>G (n.3984-16T>G)
c.3654T>G (p.Asp1218Glu)
c.2343T>G (p.Asp781Glu)
1g.11788228G>ACA338470196C1orf167,MTHFRc.3427G>A (p.Ala1143Thr)
c.3928G>A (p.Ala1310Thr)
c.*2452C>T (n.*2452C>T)
c.2063G>A
c.4546C>T (n.4546C>T)
c.3985G>A (p.Ala1329Thr)
c.1427G>A
c.1178-15G>A
n.237-15G>A
c.4063G>A (p.Ala1355Thr)
c.4009G>A (p.Ala1337Thr)
c.3984-15G>A (n.3984-15G>A)
c.3655G>A (p.Ala1219Thr)
c.2344G>A (p.Ala782Thr)
dbSNP gnomAD v2 gnomAD v4
1g.11788228G>CCA338470197C1orf167,MTHFRc.3427G>C (p.Ala1143Pro)
c.3928G>C (p.Ala1310Pro)
c.*2452C>G (n.*2452C>G)
c.2063G>C
c.4546C>G (n.4546C>G)
c.3985G>C (p.Ala1329Pro)
c.1427G>C
c.1178-15G>C
n.237-15G>C
c.4063G>C (p.Ala1355Pro)
c.4009G>C (p.Ala1337Pro)
c.3984-15G>C (n.3984-15G>C)
c.3655G>C (p.Ala1219Pro)
c.2344G>C (p.Ala782Pro)
1g.11788228G=CA1153787058C1orf167,MTHFRc.3427G= (p.Ala1143=)
c.3928G= (p.Ala1310=)
c.*2452C= (n.*2452C=)
c.2063G=
c.4546C= (n.4546C=)
c.3985G= (p.Ala1329=)
c.1427G=
c.1178-15G=
n.237-15G=
c.4063G= (p.Ala1355=)
c.4009G= (p.Ala1337=)
c.3984-15G= (n.3984-15G=)
c.3655G= (p.Ala1219=)
c.2344G= (p.Ala782=)
1g.11788228G>TCA338470198C1orf167,MTHFRc.3427G>T (p.Ala1143Ser)
c.3928G>T (p.Ala1310Ser)
c.*2452C>A (n.*2452C>A)
c.2063G>T
c.4546C>A (n.4546C>A)
c.3985G>T (p.Ala1329Ser)
c.1427G>T
c.1178-15G>T
n.237-15G>T
c.4063G>T (p.Ala1355Ser)
c.4009G>T (p.Ala1337Ser)
c.3984-15G>T (n.3984-15G>T)
c.3655G>T (p.Ala1219Ser)
c.2344G>T (p.Ala782Ser)
1g.11788229C>ACA338470199C1orf167,MTHFRc.3428C>A (p.Ala1143Asp)
c.3929C>A (p.Ala1310Asp)
c.*2451G>T (n.*2451G>T)
c.2064C>A
c.4545G>T (n.4545G>T)
c.3986C>A (p.Ala1329Asp)
c.1428C>A
c.1178-14C>A
n.237-14C>A
c.4064C>A (p.Ala1355Asp)
c.4010C>A (p.Ala1337Asp)
c.3984-14C>A (n.3984-14C>A)
c.3656C>A (p.Ala1219Asp)
c.2345C>A (p.Ala782Asp)
gnomAD v4
1g.11788229C=CA1153787062C1orf167,MTHFRc.3428C= (p.Ala1143=)
c.3929C= (p.Ala1310=)
c.*2451G= (n.*2451G=)
c.2064C=
c.4545G= (n.4545G=)
c.3986C= (p.Ala1329=)
c.1428C=
c.1178-14C=
n.237-14C=
c.4064C= (p.Ala1355=)
c.4010C= (p.Ala1337=)
c.3984-14C= (n.3984-14C=)
c.3656C= (p.Ala1219=)
c.2345C= (p.Ala782=)
1g.11788229C>GCA338470200C1orf167,MTHFRc.3428C>G (p.Ala1143Gly)
c.3929C>G (p.Ala1310Gly)
c.*2451G>C (n.*2451G>C)
c.2064C>G
c.4545G>C (n.4545G>C)
c.3986C>G (p.Ala1329Gly)
c.1428C>G
c.1178-14C>G
n.237-14C>G
c.4064C>G (p.Ala1355Gly)
c.4010C>G (p.Ala1337Gly)
c.3984-14C>G (n.3984-14C>G)
c.3656C>G (p.Ala1219Gly)
c.2345C>G (p.Ala782Gly)
1g.11788229C>TCA338470201C1orf167,MTHFRc.3428C>T (p.Ala1143Val)
c.3929C>T (p.Ala1310Val)
c.*2451G>A (n.*2451G>A)
c.2064C>T
c.4545G>A (n.4545G>A)
c.3986C>T (p.Ala1329Val)
c.1428C>T
c.1178-14C>T
n.237-14C>T
c.4064C>T (p.Ala1355Val)
c.4010C>T (p.Ala1337Val)
c.3984-14C>T (n.3984-14C>T)
c.3656C>T (p.Ala1219Val)
c.2345C>T (p.Ala782Val)
dbSNP gnomAD v2
1g.11788230T>ACA416361754C1orf167,MTHFRc.3429T>A (p.Ala1143=)
c.3930T>A (p.Ala1310=)
c.*2450A>T (n.*2450A>T)
c.2065T>A
c.4544A>T (n.4544A>T)
c.3987T>A (p.Ala1329=)
c.1429T>A
c.1178-13T>A
n.237-13T>A
c.4065T>A (p.Ala1355=)
c.4011T>A (p.Ala1337=)
c.3984-13T>A (n.3984-13T>A)
c.3657T>A (p.Ala1219=)
c.2346T>A (p.Ala782=)
1g.11788230T>CCA416361755C1orf167,MTHFRc.3429T>C (p.Ala1143=)
c.3930T>C (p.Ala1310=)
c.*2450A>G (n.*2450A>G)
c.2065T>C
c.4544A>G (n.4544A>G)
c.3987T>C (p.Ala1329=)
c.1429T>C
c.1178-13T>C
n.237-13T>C
c.4065T>C (p.Ala1355=)
c.4011T>C (p.Ala1337=)
c.3984-13T>C (n.3984-13T>C)
c.3657T>C (p.Ala1219=)
c.2346T>C (p.Ala782=)
1g.11788230T>GCA416361756C1orf167,MTHFRc.3429T>G (p.Ala1143=)
c.3930T>G (p.Ala1310=)
c.*2450A>C (n.*2450A>C)
c.2065T>G
c.4544A>C (n.4544A>C)
c.3987T>G (p.Ala1329=)
c.1429T>G
c.1178-13T>G
n.237-13T>G
c.4065T>G (p.Ala1355=)
c.4011T>G (p.Ala1337=)
c.3984-13T>G (n.3984-13T>G)
c.3657T>G (p.Ala1219=)
c.2346T>G (p.Ala782=)
1g.11788231C>ACA338470202C1orf167,MTHFRc.3430C>A (p.Leu1144Ile)
c.3931C>A (p.Leu1311Ile)
c.*2449G>T (n.*2449G>T)
c.2066C>A
c.4543G>T (n.4543G>T)
c.3988C>A (p.Leu1330Ile)
c.1430C>A
c.1178-12C>A
n.237-12C>A
c.4066C>A (p.Leu1356Ile)
c.4012C>A (p.Leu1338Ile)
c.3984-12C>A (n.3984-12C>A)
c.3658C>A (p.Leu1220Ile)
c.2347C>A (p.Leu783Ile)
1g.11788231C>GCA338470204C1orf167,MTHFRc.3430C>G (p.Leu1144Val)
c.3931C>G (p.Leu1311Val)
c.*2449G>C (n.*2449G>C)
c.2066C>G
c.4543G>C (n.4543G>C)
c.3988C>G (p.Leu1330Val)
c.1430C>G
c.1178-12C>G
n.237-12C>G
c.4066C>G (p.Leu1356Val)
c.4012C>G (p.Leu1338Val)
c.3984-12C>G (n.3984-12C>G)
c.3658C>G (p.Leu1220Val)
c.2347C>G (p.Leu783Val)
1g.11788231C>TCA338470203C1orf167,MTHFRc.3430C>T (p.Leu1144Phe)
c.3931C>T (p.Leu1311Phe)
c.*2449G>A (n.*2449G>A)
c.2066C>T
c.4543G>A (n.4543G>A)
c.3988C>T (p.Leu1330Phe)
c.1430C>T
c.1178-12C>T
n.237-12C>T
c.4066C>T (p.Leu1356Phe)
c.4012C>T (p.Leu1338Phe)
c.3984-12C>T (n.3984-12C>T)
c.3658C>T (p.Leu1220Phe)
c.2347C>T (p.Leu783Phe)
1g.11788232T>ACA338470205C1orf167,MTHFRc.3431T>A (p.Leu1144His)
c.3932T>A (p.Leu1311His)
c.*2448A>T (n.*2448A>T)
c.2067T>A
c.4542A>T (n.4542A>T)
c.3989T>A (p.Leu1330His)
c.1431T>A
c.1178-11T>A
n.237-11T>A
c.4067T>A (p.Leu1356His)
c.4013T>A (p.Leu1338His)
c.3984-11T>A (n.3984-11T>A)
c.3659T>A (p.Leu1220His)
c.2348T>A (p.Leu783His)
1g.11788232T>CCA338470206C1orf167,MTHFRc.3431T>C (p.Leu1144Pro)
c.3932T>C (p.Leu1311Pro)
c.*2448A>G (n.*2448A>G)
c.2067T>C
c.4542A>G (n.4542A>G)
c.3989T>C (p.Leu1330Pro)
c.1431T>C
c.1178-11T>C
n.237-11T>C
c.4067T>C (p.Leu1356Pro)
c.4013T>C (p.Leu1338Pro)
c.3984-11T>C (n.3984-11T>C)
c.3659T>C (p.Leu1220Pro)
c.2348T>C (p.Leu783Pro)
dbSNP gnomAD v3 gnomAD v4
1g.11788232T>GCA338470207C1orf167,MTHFRc.3431T>G (p.Leu1144Arg)
c.3932T>G (p.Leu1311Arg)
c.*2448A>C (n.*2448A>C)
c.2067T>G
c.4542A>C (n.4542A>C)
c.3989T>G (p.Leu1330Arg)
c.1431T>G
c.1178-11T>G
n.237-11T>G
c.4067T>G (p.Leu1356Arg)
c.4013T>G (p.Leu1338Arg)
c.3984-11T>G (n.3984-11T>G)
c.3659T>G (p.Leu1220Arg)
c.2348T>G (p.Leu783Arg)
1g.11788232T=CA1153787068C1orf167,MTHFRc.3431T= (p.Leu1144=)
c.3932T= (p.Leu1311=)
c.*2448A= (n.*2448A=)
c.2067T=
c.4542A= (n.4542A=)
c.3989T= (p.Leu1330=)
c.1431T=
c.1178-11T=
n.237-11T=
c.4067T= (p.Leu1356=)
c.4013T= (p.Leu1338=)
c.3984-11T= (n.3984-11T=)
c.3659T= (p.Leu1220=)
c.2348T= (p.Leu783=)
1g.11788233T>ACA416361757C1orf167,MTHFRc.3432T>A (p.Leu1144=)
c.3933T>A (p.Leu1311=)
c.*2447A>T (n.*2447A>T)
c.2068T>A
c.4541A>T (n.4541A>T)
c.3990T>A (p.Leu1330=)
c.1432T>A
c.1178-10T>A
n.237-10T>A
c.4068T>A (p.Leu1356=)
c.4014T>A (p.Leu1338=)
c.3984-10T>A (n.3984-10T>A)
c.3660T>A (p.Leu1220=)
c.2349T>A (p.Leu783=)
1g.11788233T>CCA416361758C1orf167,MTHFRc.3432T>C (p.Leu1144=)
c.3933T>C (p.Leu1311=)
c.*2447A>G (n.*2447A>G)
c.2068T>C
c.4541A>G (n.4541A>G)
c.3990T>C (p.Leu1330=)
c.1432T>C
c.1178-10T>C
n.237-10T>C
c.4068T>C (p.Leu1356=)
c.4014T>C (p.Leu1338=)
c.3984-10T>C (n.3984-10T>C)
c.3660T>C (p.Leu1220=)
c.2349T>C (p.Leu783=)
gnomAD v4
1g.11788233T>GCA416361759C1orf167,MTHFRc.3432T>G (p.Leu1144=)
c.3933T>G (p.Leu1311=)
c.*2447A>C (n.*2447A>C)
c.2068T>G
c.4541A>C (n.4541A>C)
c.3990T>G (p.Leu1330=)
c.1432T>G
c.1178-10T>G
n.237-10T>G
c.4068T>G (p.Leu1356=)
c.4014T>G (p.Leu1338=)
c.3984-10T>G (n.3984-10T>G)
c.3660T>G (p.Leu1220=)
c.2349T>G (p.Leu783=)
1g.11788234G>ACA338470208C1orf167,MTHFRc.3433G>A (p.Gly1145Ser)
c.3934G>A (p.Gly1312Ser)
c.*2446C>T (n.*2446C>T)
c.2069G>A
c.4540C>T (n.4540C>T)
c.3991G>A (p.Gly1331Ser)
c.1433G>A
c.1178-9G>A
n.237-9G>A
c.4069G>A (p.Gly1357Ser)
c.4015G>A (p.Gly1339Ser)
c.3984-9G>A (n.3984-9G>A)
c.3661G>A (p.Gly1221Ser)
c.2350G>A (p.Gly784Ser)
1g.11788234G>CCA338470209C1orf167,MTHFRc.3433G>C (p.Gly1145Arg)
c.3934G>C (p.Gly1312Arg)
c.*2446C>G (n.*2446C>G)
c.2069G>C
c.4540C>G (n.4540C>G)
c.3991G>C (p.Gly1331Arg)
c.1433G>C
c.1178-9G>C
n.237-9G>C
c.4069G>C (p.Gly1357Arg)
c.4015G>C (p.Gly1339Arg)
c.3984-9G>C (n.3984-9G>C)
c.3661G>C (p.Gly1221Arg)
c.2350G>C (p.Gly784Arg)
1g.11788234G>TCA338470210C1orf167,MTHFRc.3433G>T (p.Gly1145Cys)
c.3934G>T (p.Gly1312Cys)
c.*2446C>A (n.*2446C>A)
c.2069G>T
c.4540C>A (n.4540C>A)
c.3991G>T (p.Gly1331Cys)
c.1433G>T
c.1178-9G>T
n.237-9G>T
c.4069G>T (p.Gly1357Cys)
c.4015G>T (p.Gly1339Cys)
c.3984-9G>T (n.3984-9G>T)
c.3661G>T (p.Gly1221Cys)
c.2350G>T (p.Gly784Cys)
1g.11788235G>ACA17996242C1orf167,MTHFRc.3434G>A (p.Gly1145Asp)
c.3935G>A (p.Gly1312Asp)
c.*2445C>T (n.*2445C>T)
c.2070G>A
c.4539C>T (n.4539C>T)
c.3992G>A (p.Gly1331Asp)
c.1434G>A
c.1178-8G>A
n.237-8G>A
c.4070G>A (p.Gly1357Asp)
c.4016G>A (p.Gly1339Asp)
c.3984-8G>A (n.3984-8G>A)
c.3662G>A (p.Gly1221Asp)
c.2351G>A (p.Gly784Asp)
dbSNP
1g.11788235G>CCA338470211C1orf167,MTHFRc.3434G>C (p.Gly1145Ala)
c.3935G>C (p.Gly1312Ala)
c.*2445C>G (n.*2445C>G)
c.2070G>C
c.4539C>G (n.4539C>G)
c.3992G>C (p.Gly1331Ala)
c.1434G>C
c.1178-8G>C
n.237-8G>C
c.4070G>C (p.Gly1357Ala)
c.4016G>C (p.Gly1339Ala)
c.3984-8G>C (n.3984-8G>C)
c.3662G>C (p.Gly1221Ala)
c.2351G>C (p.Gly784Ala)
1g.11788235G=CA1153787119C1orf167,MTHFRc.3434G= (p.Gly1145=)
c.3935G= (p.Gly1312=)
c.*2445C= (n.*2445C=)
c.2070G=
c.4539C= (n.4539C=)
c.3992G= (p.Gly1331=)
c.1434G=
c.1178-8G=
n.237-8G=
c.4070G= (p.Gly1357=)
c.4016G= (p.Gly1339=)
c.3984-8G= (n.3984-8G=)
c.3662G= (p.Gly1221=)
c.2351G= (p.Gly784=)
1g.11788235G>TCA338470212C1orf167,MTHFRc.3434G>T (p.Gly1145Val)
c.3935G>T (p.Gly1312Val)
c.*2445C>A (n.*2445C>A)
c.2070G>T
c.4539C>A (n.4539C>A)
c.3992G>T (p.Gly1331Val)
c.1434G>T
c.1178-8G>T
n.237-8G>T
c.4070G>T (p.Gly1357Val)
c.4016G>T (p.Gly1339Val)
c.3984-8G>T (n.3984-8G>T)
c.3662G>T (p.Gly1221Val)
c.2351G>T (p.Gly784Val)
dbSNP gnomAD v2 gnomAD v4
1g.11788236C>ACA416361762C1orf167,MTHFRc.3435C>A (p.Gly1145=)
c.3936C>A (p.Gly1312=)
c.*2444G>T (n.*2444G>T)
c.2071C>A
c.4538G>T (n.4538G>T)
c.3993C>A (p.Gly1331=)
c.1435C>A
c.1178-7C>A
n.237-7C>A
c.4071C>A (p.Gly1357=)
c.4017C>A (p.Gly1339=)
c.3984-7C>A (n.3984-7C>A)
c.3663C>A (p.Gly1221=)
c.2352C>A (p.Gly784=)
1g.11788236C=CA1146363382C1orf167,MTHFRc.3435C= (p.Gly1145=)
c.3936C= (p.Gly1312=)
c.*2444G= (n.*2444G=)
c.2071C=
c.4538G= (n.4538G=)
c.3993C= (p.Gly1331=)
c.1435C=
c.1178-7C=
n.237-7C=
c.4071C= (p.Gly1357=)
c.4017C= (p.Gly1339=)
c.3984-7C= (n.3984-7C=)
c.3663C= (p.Gly1221=)
c.2352C= (p.Gly784=)
1g.11788236C>GCA595081C1orf167,MTHFRc.3435C>G (p.Gly1145=)
c.3936C>G (p.Gly1312=)
c.*2444G>C (n.*2444G>C)
c.2071C>G
c.4538G>C (n.4538G>C)
c.3993C>G (p.Gly1331=)
c.1435C>G
c.1178-7C>G
n.237-7C>G
c.4071C>G (p.Gly1357=)
c.4017C>G (p.Gly1339=)
c.3984-7C>G (n.3984-7C>G)
c.3663C>G (p.Gly1221=)
c.2352C>G (p.Gly784=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11788236C>TCA416361763C1orf167,MTHFRc.3435C>T (p.Gly1145=)
c.3936C>T (p.Gly1312=)
c.*2444G>A (n.*2444G>A)
c.2071C>T
c.4538G>A (n.4538G>A)
c.3993C>T (p.Gly1331=)
c.1435C>T
c.1178-7C>T
n.237-7C>T
c.4071C>T (p.Gly1357=)
c.4017C>T (p.Gly1339=)
c.3984-7C>T (n.3984-7C>T)
c.3663C>T (p.Gly1221=)
c.2352C>T (p.Gly784=)
gnomAD v4
1g.11788237C>ACA338470215C1orf167,MTHFRc.3436C>A (p.His1146Asn)
c.3937C>A (p.His1313Asn)
c.*2443G>T (n.*2443G>T)
c.2072C>A
c.4537G>T (n.4537G>T)
c.3994C>A (p.His1332Asn)
c.1436C>A
c.1178-6C>A
n.237-6C>A
c.4072C>A (p.His1358Asn)
c.4018C>A (p.His1340Asn)
c.3984-6C>A (n.3984-6C>A)
c.3664C>A (p.His1222Asn)
c.2353C>A (p.His785Asn)
gnomAD v4
1g.11788237C>GCA338470214C1orf167,MTHFRc.3436C>G (p.His1146Asp)
c.3937C>G (p.His1313Asp)
c.*2443G>C (n.*2443G>C)
c.2072C>G
c.4537G>C (n.4537G>C)
c.3994C>G (p.His1332Asp)
c.1436C>G
c.1178-6C>G
n.237-6C>G
c.4072C>G (p.His1358Asp)
c.4018C>G (p.His1340Asp)
c.3984-6C>G (n.3984-6C>G)
c.3664C>G (p.His1222Asp)
c.2353C>G (p.His785Asp)
1g.11788237C>TCA338470213C1orf167,MTHFRc.3436C>T (p.His1146Tyr)
c.3937C>T (p.His1313Tyr)
c.*2443G>A (n.*2443G>A)
c.2072C>T
c.4537G>A (n.4537G>A)
c.3994C>T (p.His1332Tyr)
c.1436C>T
c.1178-6C>T
n.237-6C>T
c.4072C>T (p.His1358Tyr)
c.4018C>T (p.His1340Tyr)
c.3984-6C>T (n.3984-6C>T)
c.3664C>T (p.His1222Tyr)
c.2353C>T (p.His785Tyr)
1g.11788238A=CA1153787128C1orf167,MTHFRc.3437A= (p.His1146=)
c.3938A= (p.His1313=)
c.*2442T= (n.*2442T=)
c.2073A=
c.4536T= (n.4536T=)
c.3995A= (p.His1332=)
c.1437A=
c.1178-5A=
n.237-5A=
c.4073A= (p.His1358=)
c.4019A= (p.His1340=)
c.3984-5A= (n.3984-5A=)
c.3665A= (p.His1222=)
c.2354A= (p.His785=)
1g.11788238A>CCA338470216C1orf167,MTHFRc.3437A>C (p.His1146Pro)
c.3938A>C (p.His1313Pro)
c.*2442T>G (n.*2442T>G)
c.2073A>C
c.4536T>G (n.4536T>G)
c.3995A>C (p.His1332Pro)
c.1437A>C
c.1178-5A>C
n.237-5A>C
c.4073A>C (p.His1358Pro)
c.4019A>C (p.His1340Pro)
c.3984-5A>C (n.3984-5A>C)
c.3665A>C (p.His1222Pro)
c.2354A>C (p.His785Pro)
1g.11788238A>GCA338470218C1orf167,MTHFRc.3437A>G (p.His1146Arg)
c.3938A>G (p.His1313Arg)
c.*2442T>C (n.*2442T>C)
c.2073A>G
c.4536T>C (n.4536T>C)
c.3995A>G (p.His1332Arg)
c.1437A>G
c.1178-5A>G
n.237-5A>G
c.4073A>G (p.His1358Arg)
c.4019A>G (p.His1340Arg)
c.3984-5A>G (n.3984-5A>G)
c.3665A>G (p.His1222Arg)
c.2354A>G (p.His785Arg)
1g.11788238A>TCA338470217C1orf167,MTHFRc.3437A>T (p.His1146Leu)
c.3938A>T (p.His1313Leu)
c.*2442T>A (n.*2442T>A)
c.2073A>T
c.4536T>A (n.4536T>A)
c.3995A>T (p.His1332Leu)
c.1437A>T
c.1178-5A>T
n.237-5A>T
c.4073A>T (p.His1358Leu)
c.4019A>T (p.His1340Leu)
c.3984-5A>T (n.3984-5A>T)
c.3665A>T (p.His1222Leu)
c.2354A>T (p.His785Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11788239T>ACA338470219C1orf167,MTHFRc.3438T>A (p.His1146Gln)
c.3939T>A (p.His1313Gln)
c.*2441A>T (n.*2441A>T)
c.2074T>A
c.4535A>T (n.4535A>T)
c.3996T>A (p.His1332Gln)
c.1438T>A
c.1178-4T>A
n.237-4T>A
c.4074T>A (p.His1358Gln)
c.4020T>A (p.His1340Gln)
c.3984-4T>A (n.3984-4T>A)
c.3666T>A (p.His1222Gln)
c.2355T>A (p.His785Gln)
1g.11788239T>CCA416361767C1orf167,MTHFRc.3438T>C (p.His1146=)
c.3939T>C (p.His1313=)
c.*2441A>G (n.*2441A>G)
c.2074T>C
c.4535A>G (n.4535A>G)
c.3996T>C (p.His1332=)
c.1438T>C
c.1178-4T>C
n.237-4T>C
c.4074T>C (p.His1358=)
c.4020T>C (p.His1340=)
c.3984-4T>C (n.3984-4T>C)
c.3666T>C (p.His1222=)
c.2355T>C (p.His785=)
1g.11788239T>GCA338470220C1orf167,MTHFRc.3438T>G (p.His1146Gln)
c.3939T>G (p.His1313Gln)
c.*2441A>C (n.*2441A>C)
c.2074T>G
c.4535A>C (n.4535A>C)
c.3996T>G (p.His1332Gln)
c.1438T>G
c.1178-4T>G
n.237-4T>G
c.4074T>G (p.His1358Gln)
c.4020T>G (p.His1340Gln)
c.3984-4T>G (n.3984-4T>G)
c.3666T>G (p.His1222Gln)
c.2355T>G (p.His785Gln)
dbSNP
1g.11788239T=CA1153787134C1orf167,MTHFRc.3438T= (p.His1146=)
c.3939T= (p.His1313=)
c.*2441A= (n.*2441A=)
c.2074T=
c.4535A= (n.4535A=)
c.3996T= (p.His1332=)
c.1438T=
c.1178-4T=
n.237-4T=
c.4074T= (p.His1358=)
c.4020T= (p.His1340=)
c.3984-4T= (n.3984-4T=)
c.3666T= (p.His1222=)
c.2355T= (p.His785=)
1g.11788240C>ACA338470221C1orf167,MTHFRc.3439C>A (p.Gln1147Lys)
c.3940C>A (p.Gln1314Lys)
c.*2440G>T (n.*2440G>T)
c.2075C>A
c.4534G>T (n.4534G>T)
c.3997C>A (p.Gln1333Lys)
c.1439C>A
c.1178-3C>A
n.237-3C>A
c.4075C>A (p.Gln1359Lys)
c.4021C>A (p.Gln1341Lys)
c.3984-3C>A (n.3984-3C>A)
c.3667C>A (p.Gln1223Lys)
c.2356C>A (p.Gln786Lys)
1g.11788240C>GCA338470222C1orf167,MTHFRc.3439C>G (p.Gln1147Glu)
c.3940C>G (p.Gln1314Glu)
c.*2440G>C (n.*2440G>C)
c.2075C>G
c.4534G>C (n.4534G>C)
c.3997C>G (p.Gln1333Glu)
c.1439C>G
c.1178-3C>G
n.237-3C>G
c.4075C>G (p.Gln1359Glu)
c.4021C>G (p.Gln1341Glu)
c.3984-3C>G (n.3984-3C>G)
c.3667C>G (p.Gln1223Glu)
c.2356C>G (p.Gln786Glu)
1g.11788240C>TCA338470223C1orf167,MTHFRc.3439C>T (p.Gln1147Ter)
c.3940C>T (p.Gln1314Ter)
c.*2440G>A (n.*2440G>A)
c.2075C>T
c.4534G>A (n.4534G>A)
c.3997C>T (p.Gln1333Ter)
c.1439C>T
c.1178-3C>T
n.237-3C>T
c.4075C>T (p.Gln1359Ter)
c.4021C>T (p.Gln1341Ter)
c.3984-3C>T (n.3984-3C>T)
c.3667C>T (p.Gln1223Ter)
c.2356C>T (p.Gln786Ter)
1g.11788241A>CCA338470224C1orf167,MTHFRc.3440A>C (p.Gln1147Pro)
c.3941A>C (p.Gln1314Pro)
c.*2439T>G (n.*2439T>G)
c.2076A>C
c.4533T>G (n.4533T>G)
c.3998A>C (p.Gln1333Pro)
c.1440A>C
c.1178-2A>C
n.237-2A>C
c.4076A>C (p.Gln1359Pro)
c.4022A>C (p.Gln1341Pro)
c.3984-2A>C (n.3984-2A>C)
c.3668A>C (p.Gln1223Pro)
c.2357A>C (p.Gln786Pro)
1g.11788241A>GCA338470225C1orf167,MTHFRc.3440A>G (p.Gln1147Arg)
c.3941A>G (p.Gln1314Arg)
c.*2439T>C (n.*2439T>C)
c.2076A>G
c.4533T>C (n.4533T>C)
c.3998A>G (p.Gln1333Arg)
c.1440A>G
c.1178-2A>G
n.237-2A>G
c.4076A>G (p.Gln1359Arg)
c.4022A>G (p.Gln1341Arg)
c.3984-2A>G (n.3984-2A>G)
c.3668A>G (p.Gln1223Arg)
c.2357A>G (p.Gln786Arg)
1g.11788241A>TCA338470226C1orf167,MTHFRc.3440A>T (p.Gln1147Leu)
c.3941A>T (p.Gln1314Leu)
c.*2439T>A (n.*2439T>A)
c.2076A>T
c.4533T>A (n.4533T>A)
c.3998A>T (p.Gln1333Leu)
c.1440A>T
c.1178-2A>T
n.237-2A>T
c.4076A>T (p.Gln1359Leu)
c.4022A>T (p.Gln1341Leu)
c.3984-2A>T (n.3984-2A>T)
c.3668A>T (p.Gln1223Leu)
c.2357A>T (p.Gln786Leu)
1g.11788242G>ACA416361768C1orf167,MTHFRc.3441G>A (p.Gln1147=)
c.3942G>A (p.Gln1314=)
c.*2438C>T (n.*2438C>T)
c.2077G>A
c.4532C>T (n.4532C>T)
c.3999G>A (p.Gln1333=)
c.1441G>A
c.1178-1G>A
n.237-1G>A
c.4077G>A (p.Gln1359=)
c.4023G>A (p.Gln1341=)
c.3984-1G>A (n.3984-1G>A)
c.3669G>A (p.Gln1223=)
c.2358G>A (p.Gln786=)
dbSNP gnomAD v2 gnomAD v4
1g.11788242G>CCA338470227C1orf167,MTHFRc.3441G>C (p.Gln1147His)
c.3942G>C (p.Gln1314His)
c.*2438C>G (n.*2438C>G)
c.2077G>C
c.4532C>G (n.4532C>G)
c.3999G>C (p.Gln1333His)
c.1441G>C
c.1178-1G>C
n.237-1G>C
c.4077G>C (p.Gln1359His)
c.4023G>C (p.Gln1341His)
c.3984-1G>C (n.3984-1G>C)
c.3669G>C (p.Gln1223His)
c.2358G>C (p.Gln786His)
1g.11788242G=CA1153787139C1orf167,MTHFRc.3441G= (p.Gln1147=)
c.3942G= (p.Gln1314=)
c.*2438C= (n.*2438C=)
c.2077G=
c.4532C= (n.4532C=)
c.3999G= (p.Gln1333=)
c.1441G=
c.1178-1G=
n.237-1G=
c.4077G= (p.Gln1359=)
c.4023G= (p.Gln1341=)
c.3984-1G= (n.3984-1G=)
c.3669G= (p.Gln1223=)
c.2358G= (p.Gln786=)
1g.11788242G>TCA338470228C1orf167,MTHFRc.3441G>T (p.Gln1147His)
c.3942G>T (p.Gln1314His)
c.*2438C>A (n.*2438C>A)
c.2077G>T
c.4532C>A (n.4532C>A)
c.3999G>T (p.Gln1333His)
c.1441G>T
c.1178-1G>T
n.237-1G>T
c.4077G>T (p.Gln1359His)
c.4023G>T (p.Gln1341His)
c.3984-1G>T (n.3984-1G>T)
c.3669G>T (p.Gln1223His)
c.2358G>T (p.Gln786His)
gnomAD v4
1g.11788243G>ACA338470229C1orf167,MTHFRc.3442G>A (p.Glu1148Lys)
c.3943G>A (p.Glu1315Lys)
c.*2437C>T (n.*2437C>T)
c.2078G>A
c.4531C>T (n.4531C>T)
c.4000G>A (p.Glu1334Lys)
c.1442G>A
c.1178G>A
n.237G>A
c.4078G>A (p.Glu1360Lys)
c.4024G>A (p.Glu1342Lys)
c.3984G>A (p.Arg1328=)
c.3670G>A (p.Glu1224Lys)
c.2359G>A (p.Glu787Lys)
1g.11788243G>CCA338470230C1orf167,MTHFRc.3442G>C (p.Glu1148Gln)
c.3943G>C (p.Glu1315Gln)
c.*2437C>G (n.*2437C>G)
c.2078G>C
c.4531C>G (n.4531C>G)
c.4000G>C (p.Glu1334Gln)
c.1442G>C
c.1178G>C
n.237G>C
c.4078G>C (p.Glu1360Gln)
c.4024G>C (p.Glu1342Gln)
c.3984G>C (p.Arg1328=)
c.3670G>C (p.Glu1224Gln)
c.2359G>C (p.Glu787Gln)
1g.11788243G>TCA338470231C1orf167,MTHFRc.3442G>T (p.Glu1148Ter)
c.3943G>T (p.Glu1315Ter)
c.*2437C>A (n.*2437C>A)
c.2078G>T
c.4531C>A (n.4531C>A)
c.4000G>T (p.Glu1334Ter)
c.1442G>T
c.1178G>T
n.237G>T
c.4078G>T (p.Glu1360Ter)
c.4024G>T (p.Glu1342Ter)
c.3984G>T (p.Arg1328=)
c.3670G>T (p.Glu1224Ter)
c.2359G>T (p.Glu787Ter)
1g.11788244A>CCA338470232C1orf167,MTHFRc.3443A>C (p.Glu1148Ala)
c.3944A>C (p.Glu1315Ala)
c.*2436T>G (n.*2436T>G)
c.2079A>C
c.4530T>G (n.4530T>G)
c.4001A>C (p.Glu1334Ala)
c.1443A>C
c.1179A>C
n.238A>C
c.4079A>C (p.Glu1360Ala)
c.4025A>C (p.Glu1342Ala)
c.3985A>C (p.Arg1329=)
c.3671A>C (p.Glu1224Ala)
c.2360A>C (p.Glu787Ala)
1g.11788244A>GCA338470234C1orf167,MTHFRc.3443A>G (p.Glu1148Gly)
c.3944A>G (p.Glu1315Gly)
c.*2436T>C (n.*2436T>C)
c.2079A>G
c.4530T>C (n.4530T>C)
c.4001A>G (p.Glu1334Gly)
c.1443A>G
c.1179A>G
n.238A>G
c.4079A>G (p.Glu1360Gly)
c.4025A>G (p.Glu1342Gly)
c.3985A>G (p.Arg1329Gly)
c.3671A>G (p.Glu1224Gly)
c.2360A>G (p.Glu787Gly)
1g.11788244A>TCA338470233C1orf167,MTHFRc.3443A>T (p.Glu1148Val)
c.3944A>T (p.Glu1315Val)
c.*2436T>A (n.*2436T>A)
c.2079A>T
c.4530T>A (n.4530T>A)
c.4001A>T (p.Glu1334Val)
c.1443A>T
c.1179A>T
n.238A>T
c.4079A>T (p.Glu1360Val)
c.4025A>T (p.Glu1342Val)
c.3985A>T (p.Arg1329Trp)
c.3671A>T (p.Glu1224Val)
c.2360A>T (p.Glu787Val)

Number of alleles fetched