Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.11787416A>CCA338469198C1orf167,MTHFRc.3110A>C (p.Glu1037Ala)
c.3596A>C (p.Glu1199Ala)
c.*3264T>G (n.*3264T>G)
c.1746A>C
c.5358T>G (n.5358T>G)
c.3668A>C (p.Glu1223Ala)
c.1095A>C
c.925A>C
n.148A>C
c.3731A>C (p.Glu1244Ala)
c.3677A>C (p.Glu1226Ala)
c.3323A>C (p.Glu1108Ala)
c.2012A>C (p.Glu671Ala)
1g.11787416A>GCA338469199C1orf167,MTHFRc.3110A>G (p.Glu1037Gly)
c.3596A>G (p.Glu1199Gly)
c.*3264T>C (n.*3264T>C)
c.1746A>G
c.5358T>C (n.5358T>C)
c.3668A>G (p.Glu1223Gly)
c.1095A>G
c.925A>G
n.148A>G
c.3731A>G (p.Glu1244Gly)
c.3677A>G (p.Glu1226Gly)
c.3323A>G (p.Glu1108Gly)
c.2012A>G (p.Glu671Gly)
 gnomAD v4
1g.11787416A>TCA338469200C1orf167,MTHFRc.3110A>T (p.Glu1037Val)
c.3596A>T (p.Glu1199Val)
c.*3264T>A (n.*3264T>A)
c.1746A>T
c.5358T>A (n.5358T>A)
c.3668A>T (p.Glu1223Val)
c.1095A>T
c.925A>T
n.148A>T
c.3731A>T (p.Glu1244Val)
c.3677A>T (p.Glu1226Val)
c.3323A>T (p.Glu1108Val)
c.2012A>T (p.Glu671Val)
1g.11787417G>ACA416118799C1orf167,MTHFRc.3111G>A (p.Glu1037=)
c.3597G>A (p.Glu1199=)
c.*3263C>T (n.*3263C>T)
c.1747G>A
c.5357C>T (n.5357C>T)
c.3669G>A (p.Glu1223=)
c.1096G>A
c.926G>A
n.149G>A
c.3732G>A (p.Glu1244=)
c.3678G>A (p.Glu1226=)
c.3324G>A (p.Glu1108=)
c.2013G>A (p.Glu671=)
 dbSNP gnomAD v2 gnomAD v4
1g.11787417G>CCA338469201C1orf167,MTHFRc.3111G>C (p.Glu1037Asp)
c.3597G>C (p.Glu1199Asp)
c.*3263C>G (n.*3263C>G)
c.1747G>C
c.5357C>G (n.5357C>G)
c.3669G>C (p.Glu1223Asp)
c.1096G>C
c.926G>C
n.149G>C
c.3732G>C (p.Glu1244Asp)
c.3678G>C (p.Glu1226Asp)
c.3324G>C (p.Glu1108Asp)
c.2013G>C (p.Glu671Asp)
1g.11787417G=CA1153785838C1orf167,MTHFRc.3111G= (p.Glu1037=)
c.3597G= (p.Glu1199=)
c.*3263C= (n.*3263C=)
c.1747G=
c.5357C= (n.5357C=)
c.3669G= (p.Glu1223=)
c.1096G=
c.926G=
n.149G=
c.3732G= (p.Glu1244=)
c.3678G= (p.Glu1226=)
c.3324G= (p.Glu1108=)
c.2013G= (p.Glu671=)
1g.11787417G>TCA338469202C1orf167,MTHFRc.3111G>T (p.Glu1037Asp)
c.3597G>T (p.Glu1199Asp)
c.*3263C>A (n.*3263C>A)
c.1747G>T
c.5357C>A (n.5357C>A)
c.3669G>T (p.Glu1223Asp)
c.1096G>T
c.926G>T
n.149G>T
c.3732G>T (p.Glu1244Asp)
c.3678G>T (p.Glu1226Asp)
c.3324G>T (p.Glu1108Asp)
c.2013G>T (p.Glu671Asp)
 gnomAD v4
1g.11787418C>ACA338469203C1orf167,MTHFRc.3112C>A (p.Leu1038Met)
c.3598C>A (p.Leu1200Met)
c.*3262G>T (n.*3262G>T)
c.1748C>A
c.5356G>T (n.5356G>T)
c.3670C>A (p.Leu1224Met)
c.1097C>A
c.927C>A
n.150C>A
c.3733C>A (p.Leu1245Met)
c.3679C>A (p.Leu1227Met)
c.3325C>A (p.Leu1109Met)
c.2014C>A (p.Leu672Met)
1g.11787418C>GCA338469204C1orf167,MTHFRc.3112C>G (p.Leu1038Val)
c.3598C>G (p.Leu1200Val)
c.*3262G>C (n.*3262G>C)
c.1748C>G
c.5356G>C (n.5356G>C)
c.3670C>G (p.Leu1224Val)
c.1097C>G
c.927C>G
n.150C>G
c.3733C>G (p.Leu1245Val)
c.3679C>G (p.Leu1227Val)
c.3325C>G (p.Leu1109Val)
c.2014C>G (p.Leu672Val)
 gnomAD v4
1g.11787418C>TCA416118800C1orf167,MTHFRc.3112C>T (p.Leu1038=)
c.3598C>T (p.Leu1200=)
c.*3262G>A (n.*3262G>A)
c.1748C>T
c.5356G>A (n.5356G>A)
c.3670C>T (p.Leu1224=)
c.1097C>T
c.927C>T
n.150C>T
c.3733C>T (p.Leu1245=)
c.3679C>T (p.Leu1227=)
c.3325C>T (p.Leu1109=)
c.2014C>T (p.Leu672=)
1g.11787419T>ACA338469205C1orf167,MTHFRc.3113T>A (p.Leu1038Gln)
c.3599T>A (p.Leu1200Gln)
c.*3261A>T (n.*3261A>T)
c.1749T>A
c.5355A>T (n.5355A>T)
c.3671T>A (p.Leu1224Gln)
c.1098T>A
c.928T>A
n.151T>A
c.3734T>A (p.Leu1245Gln)
c.3680T>A (p.Leu1227Gln)
c.3326T>A (p.Leu1109Gln)
c.2015T>A (p.Leu672Gln)
1g.11787419T>CCA338469207C1orf167,MTHFRc.3113T>C (p.Leu1038Pro)
c.3599T>C (p.Leu1200Pro)
c.*3261A>G (n.*3261A>G)
c.1749T>C
c.5355A>G (n.5355A>G)
c.3671T>C (p.Leu1224Pro)
c.1098T>C
c.928T>C
n.151T>C
c.3734T>C (p.Leu1245Pro)
c.3680T>C (p.Leu1227Pro)
c.3326T>C (p.Leu1109Pro)
c.2015T>C (p.Leu672Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.11787419T>GCA338469206C1orf167,MTHFRc.3113T>G (p.Leu1038Arg)
c.3599T>G (p.Leu1200Arg)
c.*3261A>C (n.*3261A>C)
c.1749T>G
c.5355A>C (n.5355A>C)
c.3671T>G (p.Leu1224Arg)
c.1098T>G
c.928T>G
n.151T>G
c.3734T>G (p.Leu1245Arg)
c.3680T>G (p.Leu1227Arg)
c.3326T>G (p.Leu1109Arg)
c.2015T>G (p.Leu672Arg)
1g.11787419T=CA1153785840C1orf167,MTHFRc.3113T= (p.Leu1038=)
c.3599T= (p.Leu1200=)
c.*3261A= (n.*3261A=)
c.1749T=
c.5355A= (n.5355A=)
c.3671T= (p.Leu1224=)
c.1098T=
c.928T=
n.151T=
c.3734T= (p.Leu1245=)
c.3680T= (p.Leu1227=)
c.3326T= (p.Leu1109=)
c.2015T= (p.Leu672=)
1g.11787419dupCA998627415C1orf167,MTHFRc.3113dup (p.Val1039GlyfsTer?)
c.3599dup (p.Val1201GlyfsTer?)
c.*3261dup (n.*3261dup)
c.1749dup
c.5355dup (n.5355dup)
c.3671dup (p.Val1225GlyfsTer?)
c.1098dup
c.928dup
n.151dup
c.3734dup (p.Val1246GlyfsTer?)
c.3680dup (p.Val1228GlyfsTer?)
c.3326dup (p.Val1110GlyfsTer?)
c.2015dup (p.Val673GlyfsTer?)
 gnomAD v3 gnomAD v4
1g.11787420G>ACA416118801C1orf167,MTHFRc.3114G>A (p.Leu1038=)
c.3600G>A (p.Leu1200=)
c.*3260C>T (n.*3260C>T)
c.1750G>A
c.5354C>T (n.5354C>T)
c.3672G>A (p.Leu1224=)
c.1099G>A
c.929G>A
n.152G>A
c.3735G>A (p.Leu1245=)
c.3681G>A (p.Leu1227=)
c.3327G>A (p.Leu1109=)
c.2016G>A (p.Leu672=)
1g.11787420G>CCA416118802C1orf167,MTHFRc.3114G>C (p.Leu1038=)
c.3600G>C (p.Leu1200=)
c.*3260C>G (n.*3260C>G)
c.1750G>C
c.5354C>G (n.5354C>G)
c.3672G>C (p.Leu1224=)
c.1099G>C
c.929G>C
n.152G>C
c.3735G>C (p.Leu1245=)
c.3681G>C (p.Leu1227=)
c.3327G>C (p.Leu1109=)
c.2016G>C (p.Leu672=)
1g.11787420G>TCA416118803C1orf167,MTHFRc.3114G>T (p.Leu1038=)
c.3600G>T (p.Leu1200=)
c.*3260C>A (n.*3260C>A)
c.1750G>T
c.5354C>A (n.5354C>A)
c.3672G>T (p.Leu1224=)
c.1099G>T
c.929G>T
n.152G>T
c.3735G>T (p.Leu1245=)
c.3681G>T (p.Leu1227=)
c.3327G>T (p.Leu1109=)
c.2016G>T (p.Leu672=)
 gnomAD v4
1g.11787421G>ACA338469208C1orf167,MTHFRc.3115G>A (p.Val1039Met)
c.3601G>A (p.Val1201Met)
c.*3259C>T (n.*3259C>T)
c.1751G>A
c.5353C>T (n.5353C>T)
c.3673G>A (p.Val1225Met)
c.1100G>A
c.930G>A
n.153G>A
c.3736G>A (p.Val1246Met)
c.3682G>A (p.Val1228Met)
c.3328G>A (p.Val1110Met)
c.2017G>A (p.Val673Met)
 dbSNP gnomAD v3 gnomAD v4
1g.11787421G>CCA338469209C1orf167,MTHFRc.3115G>C (p.Val1039Leu)
c.3601G>C (p.Val1201Leu)
c.*3259C>G (n.*3259C>G)
c.1751G>C
c.5353C>G (n.5353C>G)
c.3673G>C (p.Val1225Leu)
c.1100G>C
c.930G>C
n.153G>C
c.3736G>C (p.Val1246Leu)
c.3682G>C (p.Val1228Leu)
c.3328G>C (p.Val1110Leu)
c.2017G>C (p.Val673Leu)
1g.11787421G=CA1153785845C1orf167,MTHFRc.3115G= (p.Val1039=)
c.3601G= (p.Val1201=)
c.*3259C= (n.*3259C=)
c.1751G=
c.5353C= (n.5353C=)
c.3673G= (p.Val1225=)
c.1100G=
c.930G=
n.153G=
c.3736G= (p.Val1246=)
c.3682G= (p.Val1228=)
c.3328G= (p.Val1110=)
c.2017G= (p.Val673=)
1g.11787421G>TCA338469210C1orf167,MTHFRc.3115G>T (p.Val1039Leu)
c.3601G>T (p.Val1201Leu)
c.*3259C>A (n.*3259C>A)
c.1751G>T
c.5353C>A (n.5353C>A)
c.3673G>T (p.Val1225Leu)
c.1100G>T
c.930G>T
n.153G>T
c.3736G>T (p.Val1246Leu)
c.3682G>T (p.Val1228Leu)
c.3328G>T (p.Val1110Leu)
c.2017G>T (p.Val673Leu)
1g.11787422T>ACA338469211C1orf167,MTHFRc.3116T>A (p.Val1039Glu)
c.3602T>A (p.Val1201Glu)
c.*3258A>T (n.*3258A>T)
c.1752T>A
c.5352A>T (n.5352A>T)
c.3674T>A (p.Val1225Glu)
c.1101T>A
c.931T>A
n.154T>A
c.3737T>A (p.Val1246Glu)
c.3683T>A (p.Val1228Glu)
c.3329T>A (p.Val1110Glu)
c.2018T>A (p.Val673Glu)
1g.11787422T>CCA338469212C1orf167,MTHFRc.3116T>C (p.Val1039Ala)
c.3602T>C (p.Val1201Ala)
c.*3258A>G (n.*3258A>G)
c.1752T>C
c.5352A>G (n.5352A>G)
c.3674T>C (p.Val1225Ala)
c.1101T>C
c.931T>C
n.154T>C
c.3737T>C (p.Val1246Ala)
c.3683T>C (p.Val1228Ala)
c.3329T>C (p.Val1110Ala)
c.2018T>C (p.Val673Ala)
1g.11787422T>GCA338469213C1orf167,MTHFRc.3116T>G (p.Val1039Gly)
c.3602T>G (p.Val1201Gly)
c.*3258A>C (n.*3258A>C)
c.1752T>G
c.5352A>C (n.5352A>C)
c.3674T>G (p.Val1225Gly)
c.1101T>G
c.931T>G
n.154T>G
c.3737T>G (p.Val1246Gly)
c.3683T>G (p.Val1228Gly)
c.3329T>G (p.Val1110Gly)
c.2018T>G (p.Val673Gly)
1g.11787423G>ACA416118804C1orf167,MTHFRc.3117G>A (p.Val1039=)
c.3603G>A (p.Val1201=)
c.*3257C>T (n.*3257C>T)
c.1753G>A
c.5351C>T (n.5351C>T)
c.3675G>A (p.Val1225=)
c.1102G>A
c.932G>A
n.155G>A
c.3738G>A (p.Val1246=)
c.3684G>A (p.Val1228=)
c.3330G>A (p.Val1110=)
c.2019G>A (p.Val673=)
 dbSNP
1g.11787423G>CCA416118805C1orf167,MTHFRc.3117G>C (p.Val1039=)
c.3603G>C (p.Val1201=)
c.*3257C>G (n.*3257C>G)
c.1753G>C
c.5351C>G (n.5351C>G)
c.3675G>C (p.Val1225=)
c.1102G>C
c.932G>C
n.155G>C
c.3738G>C (p.Val1246=)
c.3684G>C (p.Val1228=)
c.3330G>C (p.Val1110=)
c.2019G>C (p.Val673=)
1g.11787423G=CA1153785849C1orf167,MTHFRc.3117G= (p.Val1039=)
c.3603G= (p.Val1201=)
c.*3257C= (n.*3257C=)
c.1753G=
c.5351C= (n.5351C=)
c.3675G= (p.Val1225=)
c.1102G=
c.932G=
n.155G=
c.3738G= (p.Val1246=)
c.3684G= (p.Val1228=)
c.3330G= (p.Val1110=)
c.2019G= (p.Val673=)
1g.11787423G>TCA416118806C1orf167,MTHFRc.3117G>T (p.Val1039=)
c.3603G>T (p.Val1201=)
c.*3257C>A (n.*3257C>A)
c.1753G>T
c.5351C>A (n.5351C>A)
c.3675G>T (p.Val1225=)
c.1102G>T
c.932G>T
n.155G>T
c.3738G>T (p.Val1246=)
c.3684G>T (p.Val1228=)
c.3330G>T (p.Val1110=)
c.2019G>T (p.Val673=)
 gnomAD v4
1g.11787424C>ACA338469214C1orf167,MTHFRc.3118C>A (p.Pro1040Thr)
c.3604C>A (p.Pro1202Thr)
c.*3256G>T (n.*3256G>T)
c.1754C>A
c.5350G>T (n.5350G>T)
c.3676C>A (p.Pro1226Thr)
c.1103C>A
c.933C>A
n.156C>A
c.3739C>A (p.Pro1247Thr)
c.3685C>A (p.Pro1229Thr)
c.3331C>A (p.Pro1111Thr)
c.2020C>A (p.Pro674Thr)
1g.11787424C>GCA338469215C1orf167,MTHFRc.3118C>G (p.Pro1040Ala)
c.3604C>G (p.Pro1202Ala)
c.*3256G>C (n.*3256G>C)
c.1754C>G
c.5350G>C (n.5350G>C)
c.3676C>G (p.Pro1226Ala)
c.1103C>G
c.933C>G
n.156C>G
c.3739C>G (p.Pro1247Ala)
c.3685C>G (p.Pro1229Ala)
c.3331C>G (p.Pro1111Ala)
c.2020C>G (p.Pro674Ala)
1g.11787424C>TCA338469216C1orf167,MTHFRc.3118C>T (p.Pro1040Ser)
c.3604C>T (p.Pro1202Ser)
c.*3256G>A (n.*3256G>A)
c.1754C>T
c.5350G>A (n.5350G>A)
c.3676C>T (p.Pro1226Ser)
c.1103C>T
c.933C>T
n.156C>T
c.3739C>T (p.Pro1247Ser)
c.3685C>T (p.Pro1229Ser)
c.3331C>T (p.Pro1111Ser)
c.2020C>T (p.Pro674Ser)
 gnomAD v4
1g.11787425C>ACA338469219C1orf167,MTHFRc.3119C>A (p.Pro1040His)
c.3605C>A (p.Pro1202His)
c.*3255G>T (n.*3255G>T)
c.1755C>A
c.5349G>T (n.5349G>T)
c.3677C>A (p.Pro1226His)
c.1104C>A
c.934C>A
n.157C>A
c.3740C>A (p.Pro1247His)
c.3686C>A (p.Pro1229His)
c.3332C>A (p.Pro1111His)
c.2021C>A (p.Pro674His)
1g.11787425C=CA1153785853C1orf167,MTHFRc.3119C= (p.Pro1040=)
c.3605C= (p.Pro1202=)
c.*3255G= (n.*3255G=)
c.1755C=
c.5349G= (n.5349G=)
c.3677C= (p.Pro1226=)
c.1104C=
c.934C=
n.157C=
c.3740C= (p.Pro1247=)
c.3686C= (p.Pro1229=)
c.3332C= (p.Pro1111=)
c.2021C= (p.Pro674=)
1g.11787425C>GCA338469218C1orf167,MTHFRc.3119C>G (p.Pro1040Arg)
c.3605C>G (p.Pro1202Arg)
c.*3255G>C (n.*3255G>C)
c.1755C>G
c.5349G>C (n.5349G>C)
c.3677C>G (p.Pro1226Arg)
c.1104C>G
c.934C>G
n.157C>G
c.3740C>G (p.Pro1247Arg)
c.3686C>G (p.Pro1229Arg)
c.3332C>G (p.Pro1111Arg)
c.2021C>G (p.Pro674Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.11787425C>TCA338469217C1orf167,MTHFRc.3119C>T (p.Pro1040Leu)
c.3605C>T (p.Pro1202Leu)
c.*3255G>A (n.*3255G>A)
c.1755C>T
c.5349G>A (n.5349G>A)
c.3677C>T (p.Pro1226Leu)
c.1104C>T
c.934C>T
n.157C>T
c.3740C>T (p.Pro1247Leu)
c.3686C>T (p.Pro1229Leu)
c.3332C>T (p.Pro1111Leu)
c.2021C>T (p.Pro674Leu)
 gnomAD v4
1g.11787426T>ACA416118807C1orf167,MTHFRc.3120T>A (p.Pro1040=)
c.3606T>A (p.Pro1202=)
c.*3254A>T (n.*3254A>T)
c.1756T>A
c.5348A>T (n.5348A>T)
c.3678T>A (p.Pro1226=)
c.1105T>A
c.935T>A
n.158T>A
c.3741T>A (p.Pro1247=)
c.3687T>A (p.Pro1229=)
c.3333T>A (p.Pro1111=)
c.2022T>A (p.Pro674=)
 gnomAD v4
1g.11787426T>CCA416118808C1orf167,MTHFRc.3120T>C (p.Pro1040=)
c.3606T>C (p.Pro1202=)
c.*3254A>G (n.*3254A>G)
c.1756T>C
c.5348A>G (n.5348A>G)
c.3678T>C (p.Pro1226=)
c.1105T>C
c.935T>C
n.158T>C
c.3741T>C (p.Pro1247=)
c.3687T>C (p.Pro1229=)
c.3333T>C (p.Pro1111=)
c.2022T>C (p.Pro674=)
1g.11787426T>GCA416118809C1orf167,MTHFRc.3120T>G (p.Pro1040=)
c.3606T>G (p.Pro1202=)
c.*3254A>C (n.*3254A>C)
c.1756T>G
c.5348A>C (n.5348A>C)
c.3678T>G (p.Pro1226=)
c.1105T>G
c.935T>G
n.158T>G
c.3741T>G (p.Pro1247=)
c.3687T>G (p.Pro1229=)
c.3333T>G (p.Pro1111=)
c.2022T>G (p.Pro674=)
1g.11787427C>ACA338469220C1orf167,MTHFRc.3121C>A (p.Pro1041Thr)
c.3607C>A (p.Pro1203Thr)
c.*3253G>T (n.*3253G>T)
c.1757C>A
c.5347G>T (n.5347G>T)
c.3679C>A (p.Pro1227Thr)
c.1106C>A
c.936C>A
n.159C>A
c.3742C>A (p.Pro1248Thr)
c.3688C>A (p.Pro1230Thr)
c.3334C>A (p.Pro1112Thr)
c.2023C>A (p.Pro675Thr)
1g.11787427C>GCA338469221C1orf167,MTHFRc.3121C>G (p.Pro1041Ala)
c.3607C>G (p.Pro1203Ala)
c.*3253G>C (n.*3253G>C)
c.1757C>G
c.5347G>C (n.5347G>C)
c.3679C>G (p.Pro1227Ala)
c.1106C>G
c.936C>G
n.159C>G
c.3742C>G (p.Pro1248Ala)
c.3688C>G (p.Pro1230Ala)
c.3334C>G (p.Pro1112Ala)
c.2023C>G (p.Pro675Ala)
1g.11787427C>TCA338469222C1orf167,MTHFRc.3121C>T (p.Pro1041Ser)
c.3607C>T (p.Pro1203Ser)
c.*3253G>A (n.*3253G>A)
c.1757C>T
c.5347G>A (n.5347G>A)
c.3679C>T (p.Pro1227Ser)
c.1106C>T
c.936C>T
n.159C>T
c.3742C>T (p.Pro1248Ser)
c.3688C>T (p.Pro1230Ser)
c.3334C>T (p.Pro1112Ser)
c.2023C>T (p.Pro675Ser)
1g.11787428C>ACA338469223C1orf167,MTHFRc.3122C>A (p.Pro1041His)
c.3608C>A (p.Pro1203His)
c.*3252G>T (n.*3252G>T)
c.1758C>A
c.5346G>T (n.5346G>T)
c.3680C>A (p.Pro1227His)
c.1107C>A
c.937C>A
n.160C>A
c.3743C>A (p.Pro1248His)
c.3689C>A (p.Pro1230His)
c.3335C>A (p.Pro1112His)
c.2024C>A (p.Pro675His)
1g.11787428C>GCA338469224C1orf167,MTHFRc.3122C>G (p.Pro1041Arg)
c.3608C>G (p.Pro1203Arg)
c.*3252G>C (n.*3252G>C)
c.1758C>G
c.5346G>C (n.5346G>C)
c.3680C>G (p.Pro1227Arg)
c.1107C>G
c.937C>G
n.160C>G
c.3743C>G (p.Pro1248Arg)
c.3689C>G (p.Pro1230Arg)
c.3335C>G (p.Pro1112Arg)
c.2024C>G (p.Pro675Arg)
1g.11787428C>TCA338469225C1orf167,MTHFRc.3122C>T (p.Pro1041Leu)
c.3608C>T (p.Pro1203Leu)
c.*3252G>A (n.*3252G>A)
c.1758C>T
c.5346G>A (n.5346G>A)
c.3680C>T (p.Pro1227Leu)
c.1107C>T
c.937C>T
n.160C>T
c.3743C>T (p.Pro1248Leu)
c.3689C>T (p.Pro1230Leu)
c.3335C>T (p.Pro1112Leu)
c.2024C>T (p.Pro675Leu)
1g.11787429C>ACA416118810C1orf167,MTHFRc.3123C>A (p.Pro1041=)
c.3609C>A (p.Pro1203=)
c.*3251G>T (n.*3251G>T)
c.1759C>A
c.5345G>T (n.5345G>T)
c.3681C>A (p.Pro1227=)
c.1108C>A
c.938C>A
n.161C>A
c.3744C>A (p.Pro1248=)
c.3690C>A (p.Pro1230=)
c.3336C>A (p.Pro1112=)
c.2025C>A (p.Pro675=)
1g.11787429C=CA1153785855C1orf167,MTHFRc.3123C= (p.Pro1041=)
c.3609C= (p.Pro1203=)
c.*3251G= (n.*3251G=)
c.1759C=
c.5345G= (n.5345G=)
c.3681C= (p.Pro1227=)
c.1108C=
c.938C=
n.161C=
c.3744C= (p.Pro1248=)
c.3690C= (p.Pro1230=)
c.3336C= (p.Pro1112=)
c.2025C= (p.Pro675=)
1g.11787429C>GCA17995460C1orf167,MTHFRc.3123C>G (p.Pro1041=)
c.3609C>G (p.Pro1203=)
c.*3251G>C (n.*3251G>C)
c.1759C>G
c.5345G>C (n.5345G>C)
c.3681C>G (p.Pro1227=)
c.1108C>G
c.938C>G
n.161C>G
c.3744C>G (p.Pro1248=)
c.3690C>G (p.Pro1230=)
c.3336C>G (p.Pro1112=)
c.2025C>G (p.Pro675=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11787429C>TCA17995472C1orf167,MTHFRc.3123C>T (p.Pro1041=)
c.3609C>T (p.Pro1203=)
c.*3251G>A (n.*3251G>A)
c.1759C>T
c.5345G>A (n.5345G>A)
c.3681C>T (p.Pro1227=)
c.1108C>T
c.938C>T
n.161C>T
c.3744C>T (p.Pro1248=)
c.3690C>T (p.Pro1230=)
c.3336C>T (p.Pro1112=)
c.2025C>T (p.Pro675=)
 dbSNP gnomAD v3 gnomAD v4
1g.11787430G>ACA595039C1orf167,MTHFRc.3124G>A (p.Ala1042Thr)
c.3610G>A (p.Ala1204Thr)
c.*3250C>T (n.*3250C>T)
c.1760G>A
c.5344C>T (n.5344C>T)
c.3682G>A (p.Ala1228Thr)
c.1109G>A
c.939G>A
n.162G>A
c.3745G>A (p.Ala1249Thr)
c.3691G>A (p.Ala1231Thr)
c.3337G>A (p.Ala1113Thr)
c.2026G>A (p.Ala676Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11787430G>CCA338469226C1orf167,MTHFRc.3124G>C (p.Ala1042Pro)
c.3610G>C (p.Ala1204Pro)
c.*3250C>G (n.*3250C>G)
c.1760G>C
c.5344C>G (n.5344C>G)
c.3682G>C (p.Ala1228Pro)
c.1109G>C
c.939G>C
n.162G>C
c.3745G>C (p.Ala1249Pro)
c.3691G>C (p.Ala1231Pro)
c.3337G>C (p.Ala1113Pro)
c.2026G>C (p.Ala676Pro)
1g.11787430G=CA1153785857C1orf167,MTHFRc.3124G= (p.Ala1042=)
c.3610G= (p.Ala1204=)
c.*3250C= (n.*3250C=)
c.1760G=
c.5344C= (n.5344C=)
c.3682G= (p.Ala1228=)
c.1109G=
c.939G=
n.162G=
c.3745G= (p.Ala1249=)
c.3691G= (p.Ala1231=)
c.3337G= (p.Ala1113=)
c.2026G= (p.Ala676=)
1g.11787430G>TCA338469227C1orf167,MTHFRc.3124G>T (p.Ala1042Ser)
c.3610G>T (p.Ala1204Ser)
c.*3250C>A (n.*3250C>A)
c.1760G>T
c.5344C>A (n.5344C>A)
c.3682G>T (p.Ala1228Ser)
c.1109G>T
c.939G>T
n.162G>T
c.3745G>T (p.Ala1249Ser)
c.3691G>T (p.Ala1231Ser)
c.3337G>T (p.Ala1113Ser)
c.2026G>T (p.Ala676Ser)
1g.11787431C>ACA338469228C1orf167,MTHFRc.3125C>A (p.Ala1042Glu)
c.3611C>A (p.Ala1204Glu)
c.*3249G>T (n.*3249G>T)
c.1761C>A
c.5343G>T (n.5343G>T)
c.3683C>A (p.Ala1228Glu)
c.1110C>A
c.940C>A
n.163C>A
c.3746C>A (p.Ala1249Glu)
c.3692C>A (p.Ala1231Glu)
c.3338C>A (p.Ala1113Glu)
c.2027C>A (p.Ala676Glu)
1g.11787431C=CA1145782587C1orf167,MTHFRc.3125C= (p.Ala1042=)
c.3611C= (p.Ala1204=)
c.*3249G= (n.*3249G=)
c.1761C=
c.5343G= (n.5343G=)
c.3683C= (p.Ala1228=)
c.1110C=
c.940C=
n.163C=
c.3746C= (p.Ala1249=)
c.3692C= (p.Ala1231=)
c.3338C= (p.Ala1113=)
c.2027C= (p.Ala676=)
1g.11787431C>GCA338469229C1orf167,MTHFRc.3125C>G (p.Ala1042Gly)
c.3611C>G (p.Ala1204Gly)
c.*3249G>C (n.*3249G>C)
c.1761C>G
c.5343G>C (n.5343G>C)
c.3683C>G (p.Ala1228Gly)
c.1110C>G
c.940C>G
n.163C>G
c.3746C>G (p.Ala1249Gly)
c.3692C>G (p.Ala1231Gly)
c.3338C>G (p.Ala1113Gly)
c.2027C>G (p.Ala676Gly)
1g.11787431C>TCA17995481C1orf167,MTHFRc.3125C>T (p.Ala1042Val)
c.3611C>T (p.Ala1204Val)
c.*3249G>A (n.*3249G>A)
c.1761C>T
c.5343G>A (n.5343G>A)
c.3683C>T (p.Ala1228Val)
c.1110C>T
c.940C>T
n.163C>T
c.3746C>T (p.Ala1249Val)
c.3692C>T (p.Ala1231Val)
c.3338C>T (p.Ala1113Val)
c.2027C>T (p.Ala676Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11787432G>ACA595040C1orf167,MTHFRc.3126G>A (p.Ala1042=)
c.3612G>A (p.Ala1204=)
c.*3248C>T (n.*3248C>T)
c.1762G>A
c.5342C>T (n.5342C>T)
c.3684G>A (p.Ala1228=)
c.1111G>A
c.941G>A
n.164G>A
c.3747G>A (p.Ala1249=)
c.3693G>A (p.Ala1231=)
c.3339G>A (p.Ala1113=)
c.2028G>A (p.Ala676=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11787432G>CCA416118811C1orf167,MTHFRc.3126G>C (p.Ala1042=)
c.3612G>C (p.Ala1204=)
c.*3248C>G (n.*3248C>G)
c.1762G>C
c.5342C>G (n.5342C>G)
c.3684G>C (p.Ala1228=)
c.1111G>C
c.941G>C
n.164G>C
c.3747G>C (p.Ala1249=)
c.3693G>C (p.Ala1231=)
c.3339G>C (p.Ala1113=)
c.2028G>C (p.Ala676=)
 dbSNP gnomAD v2
1g.11787432G=CA1153785863C1orf167,MTHFRc.3126G= (p.Ala1042=)
c.3612G= (p.Ala1204=)
c.*3248C= (n.*3248C=)
c.1762G=
c.5342C= (n.5342C=)
c.3684G= (p.Ala1228=)
c.1111G=
c.941G=
n.164G=
c.3747G= (p.Ala1249=)
c.3693G= (p.Ala1231=)
c.3339G= (p.Ala1113=)
c.2028G= (p.Ala676=)
1g.11787432G>TCA416118812C1orf167,MTHFRc.3126G>T (p.Ala1042=)
c.3612G>T (p.Ala1204=)
c.*3248C>A (n.*3248C>A)
c.1762G>T
c.5342C>A (n.5342C>A)
c.3684G>T (p.Ala1228=)
c.1111G>T
c.941G>T
n.164G>T
c.3747G>T (p.Ala1249=)
c.3693G>T (p.Ala1231=)
c.3339G>T (p.Ala1113=)
c.2028G>T (p.Ala676=)
1g.11787433C>ACA338469230C1orf167,MTHFRc.3127C>A (p.Pro1043Thr)
c.3613C>A (p.Pro1205Thr)
c.*3247G>T (n.*3247G>T)
c.1763C>A
c.5341G>T (n.5341G>T)
c.3685C>A (p.Pro1229Thr)
c.1112C>A
c.942C>A
n.165C>A
c.3748C>A (p.Pro1250Thr)
c.3694C>A (p.Pro1232Thr)
c.3340C>A (p.Pro1114Thr)
c.2029C>A (p.Pro677Thr)
1g.11787433C>GCA338469232C1orf167,MTHFRc.3127C>G (p.Pro1043Ala)
c.3613C>G (p.Pro1205Ala)
c.*3247G>C (n.*3247G>C)
c.1763C>G
c.5341G>C (n.5341G>C)
c.3685C>G (p.Pro1229Ala)
c.1112C>G
c.942C>G
n.165C>G
c.3748C>G (p.Pro1250Ala)
c.3694C>G (p.Pro1232Ala)
c.3340C>G (p.Pro1114Ala)
c.2029C>G (p.Pro677Ala)
1g.11787433C>TCA338469231C1orf167,MTHFRc.3127C>T (p.Pro1043Ser)
c.3613C>T (p.Pro1205Ser)
c.*3247G>A (n.*3247G>A)
c.1763C>T
c.5341G>A (n.5341G>A)
c.3685C>T (p.Pro1229Ser)
c.1112C>T
c.942C>T
n.165C>T
c.3748C>T (p.Pro1250Ser)
c.3694C>T (p.Pro1232Ser)
c.3340C>T (p.Pro1114Ser)
c.2029C>T (p.Pro677Ser)
1g.11787434C>ACA338469233C1orf167,MTHFRc.3128C>A (p.Pro1043Gln)
c.3614C>A (p.Pro1205Gln)
c.*3246G>T (n.*3246G>T)
c.1764C>A
c.5340G>T (n.5340G>T)
c.3686C>A (p.Pro1229Gln)
c.1113C>A
c.943C>A
n.166C>A
c.3749C>A (p.Pro1250Gln)
c.3695C>A (p.Pro1232Gln)
c.3341C>A (p.Pro1114Gln)
c.2030C>A (p.Pro677Gln)
1g.11787434C=CA1153785864C1orf167,MTHFRc.3128C= (p.Pro1043=)
c.3614C= (p.Pro1205=)
c.*3246G= (n.*3246G=)
c.1764C=
c.5340G= (n.5340G=)
c.3686C= (p.Pro1229=)
c.1113C=
c.943C=
n.166C=
c.3749C= (p.Pro1250=)
c.3695C= (p.Pro1232=)
c.3341C= (p.Pro1114=)
c.2030C= (p.Pro677=)
1g.11787434C>GCA338469234C1orf167,MTHFRc.3128C>G (p.Pro1043Arg)
c.3614C>G (p.Pro1205Arg)
c.*3246G>C (n.*3246G>C)
c.1764C>G
c.5340G>C (n.5340G>C)
c.3686C>G (p.Pro1229Arg)
c.1113C>G
c.943C>G
n.166C>G
c.3749C>G (p.Pro1250Arg)
c.3695C>G (p.Pro1232Arg)
c.3341C>G (p.Pro1114Arg)
c.2030C>G (p.Pro677Arg)
1g.11787434C>TCA338469235C1orf167,MTHFRc.3128C>T (p.Pro1043Leu)
c.3614C>T (p.Pro1205Leu)
c.*3246G>A (n.*3246G>A)
c.1764C>T
c.5340G>A (n.5340G>A)
c.3686C>T (p.Pro1229Leu)
c.1113C>T
c.943C>T
n.166C>T
c.3749C>T (p.Pro1250Leu)
c.3695C>T (p.Pro1232Leu)
c.3341C>T (p.Pro1114Leu)
c.2030C>T (p.Pro677Leu)
 dbSNP
1g.11787435A>CCA416118814C1orf167,MTHFRc.3129A>C (p.Pro1043=)
c.3615A>C (p.Pro1205=)
c.*3245T>G (n.*3245T>G)
c.1765A>C
c.5339T>G (n.5339T>G)
c.3687A>C (p.Pro1229=)
c.1114A>C
c.944A>C
n.167A>C
c.3750A>C (p.Pro1250=)
c.3696A>C (p.Pro1232=)
c.3342A>C (p.Pro1114=)
c.2031A>C (p.Pro677=)
1g.11787435A>GCA416118815C1orf167,MTHFRc.3129A>G (p.Pro1043=)
c.3615A>G (p.Pro1205=)
c.*3245T>C (n.*3245T>C)
c.1765A>G
c.5339T>C (n.5339T>C)
c.3687A>G (p.Pro1229=)
c.1114A>G
c.944A>G
n.167A>G
c.3750A>G (p.Pro1250=)
c.3696A>G (p.Pro1232=)
c.3342A>G (p.Pro1114=)
c.2031A>G (p.Pro677=)
 gnomAD v4
1g.11787435A>TCA416118816C1orf167,MTHFRc.3129A>T (p.Pro1043=)
c.3615A>T (p.Pro1205=)
c.*3245T>A (n.*3245T>A)
c.1765A>T
c.5339T>A (n.5339T>A)
c.3687A>T (p.Pro1229=)
c.1114A>T
c.944A>T
n.167A>T
c.3750A>T (p.Pro1250=)
c.3696A>T (p.Pro1232=)
c.3342A>T (p.Pro1114=)
c.2031A>T (p.Pro677=)
1g.11787436T>ACA338469236C1orf167,MTHFRc.3130T>A (p.Ser1044Thr)
c.3616T>A (p.Ser1206Thr)
c.*3244A>T (n.*3244A>T)
c.1766T>A
c.5338A>T (n.5338A>T)
c.3688T>A (p.Ser1230Thr)
c.1115T>A
c.945T>A
n.168T>A
c.3751T>A (p.Ser1251Thr)
c.3697T>A (p.Ser1233Thr)
c.3343T>A (p.Ser1115Thr)
c.2032T>A (p.Ser678Thr)
1g.11787436T>CCA338469237C1orf167,MTHFRc.3130T>C (p.Ser1044Pro)
c.3616T>C (p.Ser1206Pro)
c.*3244A>G (n.*3244A>G)
c.1766T>C
c.5338A>G (n.5338A>G)
c.3688T>C (p.Ser1230Pro)
c.1115T>C
c.945T>C
n.168T>C
c.3751T>C (p.Ser1251Pro)
c.3697T>C (p.Ser1233Pro)
c.3343T>C (p.Ser1115Pro)
c.2032T>C (p.Ser678Pro)
1g.11787436T>GCA338469238C1orf167,MTHFRc.3130T>G (p.Ser1044Ala)
c.3616T>G (p.Ser1206Ala)
c.*3244A>C (n.*3244A>C)
c.1766T>G
c.5338A>C (n.5338A>C)
c.3688T>G (p.Ser1230Ala)
c.1115T>G
c.945T>G
n.168T>G
c.3751T>G (p.Ser1251Ala)
c.3697T>G (p.Ser1233Ala)
c.3343T>G (p.Ser1115Ala)
c.2032T>G (p.Ser678Ala)
1g.11787437C>ACA338469239C1orf167,MTHFRc.3131C>A (p.Ser1044Ter)
c.3617C>A (p.Ser1206Ter)
c.*3243G>T (n.*3243G>T)
c.1767C>A
c.5337G>T (n.5337G>T)
c.3689C>A (p.Ser1230Ter)
c.1116C>A
c.946C>A
n.169C>A
c.3752C>A (p.Ser1251Ter)
c.3698C>A (p.Ser1233Ter)
c.3344C>A (p.Ser1115Ter)
c.2033C>A (p.Ser678Ter)
1g.11787437C=CA1153785865C1orf167,MTHFRc.3131C= (p.Ser1044=)
c.3617C= (p.Ser1206=)
c.*3243G= (n.*3243G=)
c.1767C=
c.5337G= (n.5337G=)
c.3689C= (p.Ser1230=)
c.1116C=
c.946C=
n.169C=
c.3752C= (p.Ser1251=)
c.3698C= (p.Ser1233=)
c.3344C= (p.Ser1115=)
c.2033C= (p.Ser678=)
1g.11787437C>GCA338469240C1orf167,MTHFRc.3131C>G (p.Ser1044Ter)
c.3617C>G (p.Ser1206Ter)
c.*3243G>C (n.*3243G>C)
c.1767C>G
c.5337G>C (n.5337G>C)
c.3689C>G (p.Ser1230Ter)
c.1116C>G
c.946C>G
n.169C>G
c.3752C>G (p.Ser1251Ter)
c.3698C>G (p.Ser1233Ter)
c.3344C>G (p.Ser1115Ter)
c.2033C>G (p.Ser678Ter)
1g.11787437C>TCA338469241C1orf167,MTHFRc.3131C>T (p.Ser1044Leu)
c.3617C>T (p.Ser1206Leu)
c.*3243G>A (n.*3243G>A)
c.1767C>T
c.5337G>A (n.5337G>A)
c.3689C>T (p.Ser1230Leu)
c.1116C>T
c.946C>T
n.169C>T
c.3752C>T (p.Ser1251Leu)
c.3698C>T (p.Ser1233Leu)
c.3344C>T (p.Ser1115Leu)
c.2033C>T (p.Ser678Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.11787438A>CCA416118817C1orf167,MTHFRc.3132A>C (p.Ser1044=)
c.3618A>C (p.Ser1206=)
c.*3242T>G (n.*3242T>G)
c.1768A>C
c.5336T>G (n.5336T>G)
c.3690A>C (p.Ser1230=)
c.1117A>C
c.947A>C
n.170A>C
c.3753A>C (p.Ser1251=)
c.3699A>C (p.Ser1233=)
c.3345A>C (p.Ser1115=)
c.2034A>C (p.Ser678=)
1g.11787438A>GCA416118819C1orf167,MTHFRc.3132A>G (p.Ser1044=)
c.3618A>G (p.Ser1206=)
c.*3242T>C (n.*3242T>C)
c.1768A>G
c.5336T>C (n.5336T>C)
c.3690A>G (p.Ser1230=)
c.1117A>G
c.947A>G
n.170A>G
c.3753A>G (p.Ser1251=)
c.3699A>G (p.Ser1233=)
c.3345A>G (p.Ser1115=)
c.2034A>G (p.Ser678=)
1g.11787438A>TCA416118818C1orf167,MTHFRc.3132A>T (p.Ser1044=)
c.3618A>T (p.Ser1206=)
c.*3242T>A (n.*3242T>A)
c.1768A>T
c.5336T>A (n.5336T>A)
c.3690A>T (p.Ser1230=)
c.1117A>T
c.947A>T
n.170A>T
c.3753A>T (p.Ser1251=)
c.3699A>T (p.Ser1233=)
c.3345A>T (p.Ser1115=)
c.2034A>T (p.Ser678=)
1g.11787439C>ACA338469242C1orf167,MTHFRc.3133C>A (p.Leu1045Met)
c.3619C>A (p.Leu1207Met)
c.*3241G>T (n.*3241G>T)
c.1769C>A
c.5335G>T (n.5335G>T)
c.3691C>A (p.Leu1231Met)
c.1118C>A
c.948C>A
n.171C>A
c.3754C>A (p.Leu1252Met)
c.3700C>A (p.Leu1234Met)
c.3346C>A (p.Leu1116Met)
c.2035C>A (p.Leu679Met)
 gnomAD v4
1g.11787439C>GCA338469243C1orf167,MTHFRc.3133C>G (p.Leu1045Val)
c.3619C>G (p.Leu1207Val)
c.*3241G>C (n.*3241G>C)
c.1769C>G
c.5335G>C (n.5335G>C)
c.3691C>G (p.Leu1231Val)
c.1118C>G
c.948C>G
n.171C>G
c.3754C>G (p.Leu1252Val)
c.3700C>G (p.Leu1234Val)
c.3346C>G (p.Leu1116Val)
c.2035C>G (p.Leu679Val)
1g.11787439C>TCA416118820C1orf167,MTHFRc.3133C>T (p.Leu1045=)
c.3619C>T (p.Leu1207=)
c.*3241G>A (n.*3241G>A)
c.1769C>T
c.5335G>A (n.5335G>A)
c.3691C>T (p.Leu1231=)
c.1118C>T
c.948C>T
n.171C>T
c.3754C>T (p.Leu1252=)
c.3700C>T (p.Leu1234=)
c.3346C>T (p.Leu1116=)
c.2035C>T (p.Leu679=)
1g.11787440T>ACA338469245C1orf167,MTHFRc.3134T>A (p.Leu1045Gln)
c.3620T>A (p.Leu1207Gln)
c.*3240A>T (n.*3240A>T)
c.1770T>A
c.5334A>T (n.5334A>T)
c.3692T>A (p.Leu1231Gln)
c.1119T>A
c.949T>A
n.172T>A
c.3755T>A (p.Leu1252Gln)
c.3701T>A (p.Leu1234Gln)
c.3347T>A (p.Leu1116Gln)
c.2036T>A (p.Leu679Gln)
1g.11787440T>CCA338469246C1orf167,MTHFRc.3134T>C (p.Leu1045Pro)
c.3620T>C (p.Leu1207Pro)
c.*3240A>G (n.*3240A>G)
c.1770T>C
c.5334A>G (n.5334A>G)
c.3692T>C (p.Leu1231Pro)
c.1119T>C
c.949T>C
n.172T>C
c.3755T>C (p.Leu1252Pro)
c.3701T>C (p.Leu1234Pro)
c.3347T>C (p.Leu1116Pro)
c.2036T>C (p.Leu679Pro)
1g.11787440T>GCA338469244C1orf167,MTHFRc.3134T>G (p.Leu1045Arg)
c.3620T>G (p.Leu1207Arg)
c.*3240A>C (n.*3240A>C)
c.1770T>G
c.5334A>C (n.5334A>C)
c.3692T>G (p.Leu1231Arg)
c.1119T>G
c.949T>G
n.172T>G
c.3755T>G (p.Leu1252Arg)
c.3701T>G (p.Leu1234Arg)
c.3347T>G (p.Leu1116Arg)
c.2036T>G (p.Leu679Arg)
 gnomAD v4
1g.11787441G>ACA416118821C1orf167,MTHFRc.3135G>A (p.Leu1045=)
c.3621G>A (p.Leu1207=)
c.*3239C>T (n.*3239C>T)
c.1771G>A
c.5333C>T (n.5333C>T)
c.3693G>A (p.Leu1231=)
c.1120G>A
c.950G>A
n.173G>A
c.3756G>A (p.Leu1252=)
c.3702G>A (p.Leu1234=)
c.3348G>A (p.Leu1116=)
c.2037G>A (p.Leu679=)
1g.11787441G>CCA416118822C1orf167,MTHFRc.3135G>C (p.Leu1045=)
c.3621G>C (p.Leu1207=)
c.*3239C>G (n.*3239C>G)
c.1771G>C
c.5333C>G (n.5333C>G)
c.3693G>C (p.Leu1231=)
c.1120G>C
c.950G>C
n.173G>C
c.3756G>C (p.Leu1252=)
c.3702G>C (p.Leu1234=)
c.3348G>C (p.Leu1116=)
c.2037G>C (p.Leu679=)
1g.11787441G>TCA416118823C1orf167,MTHFRc.3135G>T (p.Leu1045=)
c.3621G>T (p.Leu1207=)
c.*3239C>A (n.*3239C>A)
c.1771G>T
c.5333C>A (n.5333C>A)
c.3693G>T (p.Leu1231=)
c.1120G>T
c.950G>T
n.173G>T
c.3756G>T (p.Leu1252=)
c.3702G>T (p.Leu1234=)
c.3348G>T (p.Leu1116=)
c.2037G>T (p.Leu679=)
1g.11787442C>ACA338469248C1orf167,MTHFRc.3136C>A (p.Gln1046Lys)
c.3622C>A (p.Gln1208Lys)
c.*3238G>T (n.*3238G>T)
c.1772C>A
c.5332G>T (n.5332G>T)
c.3694C>A (p.Gln1232Lys)
c.1121C>A
c.951C>A
n.174C>A
c.3757C>A (p.Gln1253Lys)
c.3703C>A (p.Gln1235Lys)
c.3349C>A (p.Gln1117Lys)
c.2038C>A (p.Gln680Lys)
1g.11787442C>GCA338469247C1orf167,MTHFRc.3136C>G (p.Gln1046Glu)
c.3622C>G (p.Gln1208Glu)
c.*3238G>C (n.*3238G>C)
c.1772C>G
c.5332G>C (n.5332G>C)
c.3694C>G (p.Gln1232Glu)
c.1121C>G
c.951C>G
n.174C>G
c.3757C>G (p.Gln1253Glu)
c.3703C>G (p.Gln1235Glu)
c.3349C>G (p.Gln1117Glu)
c.2038C>G (p.Gln680Glu)
1g.11787442C>TCA338469249C1orf167,MTHFRc.3136C>T (p.Gln1046Ter)
c.3622C>T (p.Gln1208Ter)
c.*3238G>A (n.*3238G>A)
c.1772C>T
c.5332G>A (n.5332G>A)
c.3694C>T (p.Gln1232Ter)
c.1121C>T
c.951C>T
n.174C>T
c.3757C>T (p.Gln1253Ter)
c.3703C>T (p.Gln1235Ter)
c.3349C>T (p.Gln1117Ter)
c.2038C>T (p.Gln680Ter)
1g.11787443A=CA1153785868C1orf167,MTHFRc.3137A= (p.Gln1046=)
c.3623A= (p.Gln1208=)
c.*3237T= (n.*3237T=)
c.1773A=
c.5331T= (n.5331T=)
c.3695A= (p.Gln1232=)
c.1122A=
c.952A=
n.175A=
c.3758A= (p.Gln1253=)
c.3704A= (p.Gln1235=)
c.3350A= (p.Gln1117=)
c.2039A= (p.Gln680=)
1g.11787443A>CCA338469250C1orf167,MTHFRc.3137A>C (p.Gln1046Pro)
c.3623A>C (p.Gln1208Pro)
c.*3237T>G (n.*3237T>G)
c.1773A>C
c.5331T>G (n.5331T>G)
c.3695A>C (p.Gln1232Pro)
c.1122A>C
c.952A>C
n.175A>C
c.3758A>C (p.Gln1253Pro)
c.3704A>C (p.Gln1235Pro)
c.3350A>C (p.Gln1117Pro)
c.2039A>C (p.Gln680Pro)
1g.11787443A>GCA338469251C1orf167,MTHFRc.3137A>G (p.Gln1046Arg)
c.3623A>G (p.Gln1208Arg)
c.*3237T>C (n.*3237T>C)
c.1773A>G
c.5331T>C (n.5331T>C)
c.3695A>G (p.Gln1232Arg)
c.1122A>G
c.952A>G
n.175A>G
c.3758A>G (p.Gln1253Arg)
c.3704A>G (p.Gln1235Arg)
c.3350A>G (p.Gln1117Arg)
c.2039A>G (p.Gln680Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11787443A>TCA338469252C1orf167,MTHFRc.3137A>T (p.Gln1046Leu)
c.3623A>T (p.Gln1208Leu)
c.*3237T>A (n.*3237T>A)
c.1773A>T
c.5331T>A (n.5331T>A)
c.3695A>T (p.Gln1232Leu)
c.1122A>T
c.952A>T
n.175A>T
c.3758A>T (p.Gln1253Leu)
c.3704A>T (p.Gln1235Leu)
c.3350A>T (p.Gln1117Leu)
c.2039A>T (p.Gln680Leu)
1g.11787444G>ACA416118824C1orf167,MTHFRc.3138G>A (p.Gln1046=)
c.3624G>A (p.Gln1208=)
c.*3236C>T (n.*3236C>T)
c.1774G>A
c.5330C>T (n.5330C>T)
c.3696G>A (p.Gln1232=)
c.1123G>A
c.953G>A
n.176G>A
c.3759G>A (p.Gln1253=)
c.3705G>A (p.Gln1235=)
c.3351G>A (p.Gln1117=)
c.2040G>A (p.Gln680=)
 gnomAD v4
1g.11787444G>CCA338469253C1orf167,MTHFRc.3138G>C (p.Gln1046His)
c.3624G>C (p.Gln1208His)
c.*3236C>G (n.*3236C>G)
c.1774G>C
c.5330C>G (n.5330C>G)
c.3696G>C (p.Gln1232His)
c.1123G>C
c.953G>C
n.176G>C
c.3759G>C (p.Gln1253His)
c.3705G>C (p.Gln1235His)
c.3351G>C (p.Gln1117His)
c.2040G>C (p.Gln680His)
1g.11787444G>TCA338469254C1orf167,MTHFRc.3138G>T (p.Gln1046His)
c.3624G>T (p.Gln1208His)
c.*3236C>A (n.*3236C>A)
c.1774G>T
c.5330C>A (n.5330C>A)
c.3696G>T (p.Gln1232His)
c.1123G>T
c.953G>T
n.176G>T
c.3759G>T (p.Gln1253His)
c.3705G>T (p.Gln1235His)
c.3351G>T (p.Gln1117His)
c.2040G>T (p.Gln680His)
 gnomAD v4
1g.11787445T>ACA338469255C1orf167,MTHFRc.3139T>A (p.Cys1047Ser)
c.3625T>A (p.Cys1209Ser)
c.*3235A>T (n.*3235A>T)
c.1775T>A
c.5329A>T (n.5329A>T)
c.3697T>A (p.Cys1233Ser)
c.1124T>A
c.954T>A
n.177T>A
c.3760T>A (p.Cys1254Ser)
c.3706T>A (p.Cys1236Ser)
c.3352T>A (p.Cys1118Ser)
c.2041T>A (p.Cys681Ser)
1g.11787445T>CCA338469256C1orf167,MTHFRc.3139T>C (p.Cys1047Arg)
c.3625T>C (p.Cys1209Arg)
c.*3235A>G (n.*3235A>G)
c.1775T>C
c.5329A>G (n.5329A>G)
c.3697T>C (p.Cys1233Arg)
c.1124T>C
c.954T>C
n.177T>C
c.3760T>C (p.Cys1254Arg)
c.3706T>C (p.Cys1236Arg)
c.3352T>C (p.Cys1118Arg)
c.2041T>C (p.Cys681Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.11787445T>GCA338469258C1orf167,MTHFRc.3139T>G (p.Cys1047Gly)
c.3625T>G (p.Cys1209Gly)
c.*3235A>C (n.*3235A>C)
c.1775T>G
c.5329A>C (n.5329A>C)
c.3697T>G (p.Cys1233Gly)
c.1124T>G
c.954T>G
n.177T>G
c.3760T>G (p.Cys1254Gly)
c.3706T>G (p.Cys1236Gly)
c.3352T>G (p.Cys1118Gly)
c.2041T>G (p.Cys681Gly)
 gnomAD v3 gnomAD v4
1g.11787445T=CA1153785869C1orf167,MTHFRc.3139T= (p.Cys1047=)
c.3625T= (p.Cys1209=)
c.*3235A= (n.*3235A=)
c.1775T=
c.5329A= (n.5329A=)
c.3697T= (p.Cys1233=)
c.1124T=
c.954T=
n.177T=
c.3760T= (p.Cys1254=)
c.3706T= (p.Cys1236=)
c.3352T= (p.Cys1118=)
c.2041T= (p.Cys681=)
1g.11787446G>ACA338469259C1orf167,MTHFRc.3140G>A (p.Cys1047Tyr)
c.3626G>A (p.Cys1209Tyr)
c.*3234C>T (n.*3234C>T)
c.1776G>A
c.5328C>T (n.5328C>T)
c.3698G>A (p.Cys1233Tyr)
c.1125G>A
c.955G>A
n.178G>A
c.3761G>A (p.Cys1254Tyr)
c.3707G>A (p.Cys1236Tyr)
c.3353G>A (p.Cys1118Tyr)
c.2042G>A (p.Cys681Tyr)
1g.11787446G>CCA338469260C1orf167,MTHFRc.3140G>C (p.Cys1047Ser)
c.3626G>C (p.Cys1209Ser)
c.*3234C>G (n.*3234C>G)
c.1776G>C
c.5328C>G (n.5328C>G)
c.3698G>C (p.Cys1233Ser)
c.1125G>C
c.955G>C
n.178G>C
c.3761G>C (p.Cys1254Ser)
c.3707G>C (p.Cys1236Ser)
c.3353G>C (p.Cys1118Ser)
c.2042G>C (p.Cys681Ser)
1g.11787446G>TCA338469261C1orf167,MTHFRc.3140G>T (p.Cys1047Phe)
c.3626G>T (p.Cys1209Phe)
c.*3234C>A (n.*3234C>A)
c.1776G>T
c.5328C>A (n.5328C>A)
c.3698G>T (p.Cys1233Phe)
c.1125G>T
c.955G>T
n.178G>T
c.3761G>T (p.Cys1254Phe)
c.3707G>T (p.Cys1236Phe)
c.3353G>T (p.Cys1118Phe)
c.2042G>T (p.Cys681Phe)
 gnomAD v4
1g.11787447C>ACA338469262C1orf167,MTHFRc.3141C>A (p.Cys1047Ter)
c.3627C>A (p.Cys1209Ter)
c.*3233G>T (n.*3233G>T)
c.1777C>A
c.5327G>T (n.5327G>T)
c.3699C>A (p.Cys1233Ter)
c.1126C>A
c.956C>A
n.179C>A
c.3762C>A (p.Cys1254Ter)
c.3708C>A (p.Cys1236Ter)
c.3354C>A (p.Cys1118Ter)
c.2043C>A (p.Cys681Ter)
 gnomAD v4
1g.11787447C>GCA338469263C1orf167,MTHFRc.3141C>G (p.Cys1047Trp)
c.3627C>G (p.Cys1209Trp)
c.*3233G>C (n.*3233G>C)
c.1777C>G
c.5327G>C (n.5327G>C)
c.3699C>G (p.Cys1233Trp)
c.1126C>G
c.956C>G
n.179C>G
c.3762C>G (p.Cys1254Trp)
c.3708C>G (p.Cys1236Trp)
c.3354C>G (p.Cys1118Trp)
c.2043C>G (p.Cys681Trp)
1g.11787447C>TCA416118825C1orf167,MTHFRc.3141C>T (p.Cys1047=)
c.3627C>T (p.Cys1209=)
c.*3233G>A (n.*3233G>A)
c.1777C>T
c.5327G>A (n.5327G>A)
c.3699C>T (p.Cys1233=)
c.1126C>T
c.956C>T
n.179C>T
c.3762C>T (p.Cys1254=)
c.3708C>T (p.Cys1236=)
c.3354C>T (p.Cys1118=)
c.2043C>T (p.Cys681=)
1g.11787448A>CCA338469264C1orf167,MTHFRc.3142A>C (p.Ser1048Arg)
c.3628A>C (p.Ser1210Arg)
c.*3232T>G (n.*3232T>G)
c.1778A>C
c.5326T>G (n.5326T>G)
c.3700A>C (p.Ser1234Arg)
c.1127A>C
c.957A>C
n.180A>C
c.3763A>C (p.Ser1255Arg)
c.3709A>C (p.Ser1237Arg)
c.3355A>C (p.Ser1119Arg)
c.2044A>C (p.Ser682Arg)
1g.11787448A>GCA338469266C1orf167,MTHFRc.3142A>G (p.Ser1048Gly)
c.3628A>G (p.Ser1210Gly)
c.*3232T>C (n.*3232T>C)
c.1778A>G
c.5326T>C (n.5326T>C)
c.3700A>G (p.Ser1234Gly)
c.1127A>G
c.957A>G
n.180A>G
c.3763A>G (p.Ser1255Gly)
c.3709A>G (p.Ser1237Gly)
c.3355A>G (p.Ser1119Gly)
c.2044A>G (p.Ser682Gly)
1g.11787448A>TCA338469265C1orf167,MTHFRc.3142A>T (p.Ser1048Cys)
c.3628A>T (p.Ser1210Cys)
c.*3232T>A (n.*3232T>A)
c.1778A>T
c.5326T>A (n.5326T>A)
c.3700A>T (p.Ser1234Cys)
c.1127A>T
c.957A>T
n.180A>T
c.3763A>T (p.Ser1255Cys)
c.3709A>T (p.Ser1237Cys)
c.3355A>T (p.Ser1119Cys)
c.2044A>T (p.Ser682Cys)
1g.11787449G>ACA338469267C1orf167,MTHFRc.3143G>A (p.Ser1048Asn)
c.3629G>A (p.Ser1210Asn)
c.*3231C>T (n.*3231C>T)
c.1779G>A
c.5325C>T (n.5325C>T)
c.3701G>A (p.Ser1234Asn)
c.1128G>A
c.958G>A
n.181G>A
c.3764G>A (p.Ser1255Asn)
c.3710G>A (p.Ser1237Asn)
c.3356G>A (p.Ser1119Asn)
c.2045G>A (p.Ser682Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.11787449G>CCA338469268C1orf167,MTHFRc.3143G>C (p.Ser1048Thr)
c.3629G>C (p.Ser1210Thr)
c.*3231C>G (n.*3231C>G)
c.1779G>C
c.5325C>G (n.5325C>G)
c.3701G>C (p.Ser1234Thr)
c.1128G>C
c.958G>C
n.181G>C
c.3764G>C (p.Ser1255Thr)
c.3710G>C (p.Ser1237Thr)
c.3356G>C (p.Ser1119Thr)
c.2045G>C (p.Ser682Thr)
1g.11787449G=CA1153785872C1orf167,MTHFRc.3143G= (p.Ser1048=)
c.3629G= (p.Ser1210=)
c.*3231C= (n.*3231C=)
c.1779G=
c.5325C= (n.5325C=)
c.3701G= (p.Ser1234=)
c.1128G=
c.958G=
n.181G=
c.3764G= (p.Ser1255=)
c.3710G= (p.Ser1237=)
c.3356G= (p.Ser1119=)
c.2045G= (p.Ser682=)
1g.11787449G>TCA338469269C1orf167,MTHFRc.3143G>T (p.Ser1048Ile)
c.3629G>T (p.Ser1210Ile)
c.*3231C>A (n.*3231C>A)
c.1779G>T
c.5325C>A (n.5325C>A)
c.3701G>T (p.Ser1234Ile)
c.1128G>T
c.958G>T
n.181G>T
c.3764G>T (p.Ser1255Ile)
c.3710G>T (p.Ser1237Ile)
c.3356G>T (p.Ser1119Ile)
c.2045G>T (p.Ser682Ile)
1g.11787450C>ACA338469270C1orf167,MTHFRc.3144C>A (p.Ser1048Arg)
c.3630C>A (p.Ser1210Arg)
c.*3230G>T (n.*3230G>T)
c.1780C>A
c.5324G>T (n.5324G>T)
c.3702C>A (p.Ser1234Arg)
c.1129C>A
c.959C>A
n.182C>A
c.3765C>A (p.Ser1255Arg)
c.3711C>A (p.Ser1237Arg)
c.3357C>A (p.Ser1119Arg)
c.2046C>A (p.Ser682Arg)
1g.11787450C>GCA338469271C1orf167,MTHFRc.3144C>G (p.Ser1048Arg)
c.3630C>G (p.Ser1210Arg)
c.*3230G>C (n.*3230G>C)
c.1780C>G
c.5324G>C (n.5324G>C)
c.3702C>G (p.Ser1234Arg)
c.1129C>G
c.959C>G
n.182C>G
c.3765C>G (p.Ser1255Arg)
c.3711C>G (p.Ser1237Arg)
c.3357C>G (p.Ser1119Arg)
c.2046C>G (p.Ser682Arg)
1g.11787450C>TCA416118826C1orf167,MTHFRc.3144C>T (p.Ser1048=)
c.3630C>T (p.Ser1210=)
c.*3230G>A (n.*3230G>A)
c.1780C>T
c.5324G>A (n.5324G>A)
c.3702C>T (p.Ser1234=)
c.1129C>T
c.959C>T
n.182C>T
c.3765C>T (p.Ser1255=)
c.3711C>T (p.Ser1237=)
c.3357C>T (p.Ser1119=)
c.2046C>T (p.Ser682=)
1g.11787451C>ACA338469272C1orf167,MTHFRc.3145C>A (p.Leu1049Met)
c.3631C>A (p.Leu1211Met)
c.*3229G>T (n.*3229G>T)
c.1781C>A
c.5323G>T (n.5323G>T)
c.3703C>A (p.Leu1235Met)
c.1130C>A
c.960C>A
n.183C>A
c.3766C>A (p.Leu1256Met)
c.3712C>A (p.Leu1238Met)
c.3358C>A (p.Leu1120Met)
c.2047C>A (p.Leu683Met)
1g.11787451C>GCA338469273C1orf167,MTHFRc.3145C>G (p.Leu1049Val)
c.3631C>G (p.Leu1211Val)
c.*3229G>C (n.*3229G>C)
c.1781C>G
c.5323G>C (n.5323G>C)
c.3703C>G (p.Leu1235Val)
c.1130C>G
c.960C>G
n.183C>G
c.3766C>G (p.Leu1256Val)
c.3712C>G (p.Leu1238Val)
c.3358C>G (p.Leu1120Val)
c.2047C>G (p.Leu683Val)
1g.11787451C>TCA416118827C1orf167,MTHFRc.3145C>T (p.Leu1049=)
c.3631C>T (p.Leu1211=)
c.*3229G>A (n.*3229G>A)
c.1781C>T
c.5323G>A (n.5323G>A)
c.3703C>T (p.Leu1235=)
c.1130C>T
c.960C>T
n.183C>T
c.3766C>T (p.Leu1256=)
c.3712C>T (p.Leu1238=)
c.3358C>T (p.Leu1120=)
c.2047C>T (p.Leu683=)
 gnomAD v4
1g.11787452T>ACA338469274C1orf167,MTHFRc.3146T>A (p.Leu1049Gln)
c.3632T>A (p.Leu1211Gln)
c.*3228A>T (n.*3228A>T)
c.1782T>A
c.5322A>T (n.5322A>T)
c.3704T>A (p.Leu1235Gln)
c.1131T>A
c.961T>A
n.184T>A
c.3767T>A (p.Leu1256Gln)
c.3713T>A (p.Leu1238Gln)
c.3359T>A (p.Leu1120Gln)
c.2048T>A (p.Leu683Gln)
1g.11787452T>CCA338469275C1orf167,MTHFRc.3146T>C (p.Leu1049Pro)
c.3632T>C (p.Leu1211Pro)
c.*3228A>G (n.*3228A>G)
c.1782T>C
c.5322A>G (n.5322A>G)
c.3704T>C (p.Leu1235Pro)
c.1131T>C
c.961T>C
n.184T>C
c.3767T>C (p.Leu1256Pro)
c.3713T>C (p.Leu1238Pro)
c.3359T>C (p.Leu1120Pro)
c.2048T>C (p.Leu683Pro)
 dbSNP
1g.11787452T>GCA338469276C1orf167,MTHFRc.3146T>G (p.Leu1049Arg)
c.3632T>G (p.Leu1211Arg)
c.*3228A>C (n.*3228A>C)
c.1782T>G
c.5322A>C (n.5322A>C)
c.3704T>G (p.Leu1235Arg)
c.1131T>G
c.961T>G
n.184T>G
c.3767T>G (p.Leu1256Arg)
c.3713T>G (p.Leu1238Arg)
c.3359T>G (p.Leu1120Arg)
c.2048T>G (p.Leu683Arg)
1g.11787452T=CA1153785875C1orf167,MTHFRc.3146T= (p.Leu1049=)
c.3632T= (p.Leu1211=)
c.*3228A= (n.*3228A=)
c.1782T=
c.5322A= (n.5322A=)
c.3704T= (p.Leu1235=)
c.1131T=
c.961T=
n.184T=
c.3767T= (p.Leu1256=)
c.3713T= (p.Leu1238=)
c.3359T= (p.Leu1120=)
c.2048T= (p.Leu683=)
1g.11787453G>ACA416118828C1orf167,MTHFRc.3147G>A (p.Leu1049=)
c.3633G>A (p.Leu1211=)
c.*3227C>T (n.*3227C>T)
c.1783G>A
c.5321C>T (n.5321C>T)
c.3705G>A (p.Leu1235=)
c.1132G>A
c.962G>A
n.185G>A
c.3768G>A (p.Leu1256=)
c.3714G>A (p.Leu1238=)
c.3360G>A (p.Leu1120=)
c.2049G>A (p.Leu683=)
1g.11787453G>CCA416118829C1orf167,MTHFRc.3147G>C (p.Leu1049=)
c.3633G>C (p.Leu1211=)
c.*3227C>G (n.*3227C>G)
c.1783G>C
c.5321C>G (n.5321C>G)
c.3705G>C (p.Leu1235=)
c.1132G>C
c.962G>C
n.185G>C
c.3768G>C (p.Leu1256=)
c.3714G>C (p.Leu1238=)
c.3360G>C (p.Leu1120=)
c.2049G>C (p.Leu683=)
1g.11787453G>TCA416118830C1orf167,MTHFRc.3147G>T (p.Leu1049=)
c.3633G>T (p.Leu1211=)
c.*3227C>A (n.*3227C>A)
c.1783G>T
c.5321C>A (n.5321C>A)
c.3705G>T (p.Leu1235=)
c.1132G>T
c.962G>T
n.185G>T
c.3768G>T (p.Leu1256=)
c.3714G>T (p.Leu1238=)
c.3360G>T (p.Leu1120=)
c.2049G>T (p.Leu683=)
 gnomAD v4
1g.11787455delCA2643294454C1orf167,MTHFRc.3149del (p.Gly1050ValfsTer?)
c.3635del (p.Gly1212ValfsTer?)
c.*3227del (n.*3227del)
c.1785del
c.5321del (n.5321del)
c.3707del (p.Gly1236ValfsTer?)
c.1134del
c.964del
n.187del
c.3770del (p.Gly1257ValfsTer?)
c.3716del (p.Gly1239ValfsTer?)
c.3362del (p.Gly1121ValfsTer?)
c.2051del (p.Gly684ValfsTer?)
 gnomAD v4
1g.11787454G>ACA17995500C1orf167,MTHFRc.3148G>A (p.Gly1050Ser)
c.3634G>A (p.Gly1212Ser)
c.*3226C>T (n.*3226C>T)
c.1784G>A
c.5320C>T (n.5320C>T)
c.3706G>A (p.Gly1236Ser)
c.1133G>A
c.963G>A
n.186G>A
c.3769G>A (p.Gly1257Ser)
c.3715G>A (p.Gly1239Ser)
c.3361G>A (p.Gly1121Ser)
c.2050G>A (p.Gly684Ser)
 dbSNP gnomAD v4
1g.11787454G>CCA338469278C1orf167,MTHFRc.3148G>C (p.Gly1050Arg)
c.3634G>C (p.Gly1212Arg)
c.*3226C>G (n.*3226C>G)
c.1784G>C
c.5320C>G (n.5320C>G)
c.3706G>C (p.Gly1236Arg)
c.1133G>C
c.963G>C
n.186G>C
c.3769G>C (p.Gly1257Arg)
c.3715G>C (p.Gly1239Arg)
c.3361G>C (p.Gly1121Arg)
c.2050G>C (p.Gly684Arg)
1g.11787454G=CA1153785877C1orf167,MTHFRc.3148G= (p.Gly1050=)
c.3634G= (p.Gly1212=)
c.*3226C= (n.*3226C=)
c.1784G=
c.5320C= (n.5320C=)
c.3706G= (p.Gly1236=)
c.1133G=
c.963G=
n.186G=
c.3769G= (p.Gly1257=)
c.3715G= (p.Gly1239=)
c.3361G= (p.Gly1121=)
c.2050G= (p.Gly684=)
1g.11787454G>TCA338469277C1orf167,MTHFRc.3148G>T (p.Gly1050Cys)
c.3634G>T (p.Gly1212Cys)
c.*3226C>A (n.*3226C>A)
c.1784G>T
c.5320C>A (n.5320C>A)
c.3706G>T (p.Gly1236Cys)
c.1133G>T
c.963G>T
n.186G>T
c.3769G>T (p.Gly1257Cys)
c.3715G>T (p.Gly1239Cys)
c.3361G>T (p.Gly1121Cys)
c.2050G>T (p.Gly684Cys)
 gnomAD v4
1g.11787455G>ACA338469279C1orf167,MTHFRc.3149G>A (p.Gly1050Asp)
c.3635G>A (p.Gly1212Asp)
c.*3225C>T (n.*3225C>T)
c.1785G>A
c.5319C>T (n.5319C>T)
c.3707G>A (p.Gly1236Asp)
c.1134G>A
c.964G>A
n.187G>A
c.3770G>A (p.Gly1257Asp)
c.3716G>A (p.Gly1239Asp)
c.3362G>A (p.Gly1121Asp)
c.2051G>A (p.Gly684Asp)
 dbSNP
1g.11787455G>CCA338469280C1orf167,MTHFRc.3149G>C (p.Gly1050Ala)
c.3635G>C (p.Gly1212Ala)
c.*3225C>G (n.*3225C>G)
c.1785G>C
c.5319C>G (n.5319C>G)
c.3707G>C (p.Gly1236Ala)
c.1134G>C
c.964G>C
n.187G>C
c.3770G>C (p.Gly1257Ala)
c.3716G>C (p.Gly1239Ala)
c.3362G>C (p.Gly1121Ala)
c.2051G>C (p.Gly684Ala)
1g.11787455G=CA1153785879C1orf167,MTHFRc.3149G= (p.Gly1050=)
c.3635G= (p.Gly1212=)
c.*3225C= (n.*3225C=)
c.1785G=
c.5319C= (n.5319C=)
c.3707G= (p.Gly1236=)
c.1134G=
c.964G=
n.187G=
c.3770G= (p.Gly1257=)
c.3716G= (p.Gly1239=)
c.3362G= (p.Gly1121=)
c.2051G= (p.Gly684=)
1g.11787455G>TCA338469281C1orf167,MTHFRc.3149G>T (p.Gly1050Val)
c.3635G>T (p.Gly1212Val)
c.*3225C>A (n.*3225C>A)
c.1785G>T
c.5319C>A (n.5319C>A)
c.3707G>T (p.Gly1236Val)
c.1134G>T
c.964G>T
n.187G>T
c.3770G>T (p.Gly1257Val)
c.3716G>T (p.Gly1239Val)
c.3362G>T (p.Gly1121Val)
c.2051G>T (p.Gly684Val)
 dbSNP gnomAD v2 gnomAD v4
1g.11787456T>ACA416118831C1orf167,MTHFRc.3150T>A (p.Gly1050=)
c.3636T>A (p.Gly1212=)
c.*3224A>T (n.*3224A>T)
c.1786T>A
c.5318A>T (n.5318A>T)
c.3708T>A (p.Gly1236=)
c.1135T>A
c.965T>A
n.188T>A
c.3771T>A (p.Gly1257=)
c.3717T>A (p.Gly1239=)
c.3363T>A (p.Gly1121=)
c.2052T>A (p.Gly684=)
 dbSNP gnomAD v3 gnomAD v4
1g.11787456T>CCA416118832C1orf167,MTHFRc.3150T>C (p.Gly1050=)
c.3636T>C (p.Gly1212=)
c.*3224A>G (n.*3224A>G)
c.1786T>C
c.5318A>G (n.5318A>G)
c.3708T>C (p.Gly1236=)
c.1135T>C
c.965T>C
n.188T>C
c.3771T>C (p.Gly1257=)
c.3717T>C (p.Gly1239=)
c.3363T>C (p.Gly1121=)
c.2052T>C (p.Gly684=)
1g.11787456T>GCA416118833C1orf167,MTHFRc.3150T>G (p.Gly1050=)
c.3636T>G (p.Gly1212=)
c.*3224A>C (n.*3224A>C)
c.1786T>G
c.5318A>C (n.5318A>C)
c.3708T>G (p.Gly1236=)
c.1135T>G
c.965T>G
n.188T>G
c.3771T>G (p.Gly1257=)
c.3717T>G (p.Gly1239=)
c.3363T>G (p.Gly1121=)
c.2052T>G (p.Gly684=)
1g.11787456T=CA1153785881C1orf167,MTHFRc.3150T= (p.Gly1050=)
c.3636T= (p.Gly1212=)
c.*3224A= (n.*3224A=)
c.1786T=
c.5318A= (n.5318A=)
c.3708T= (p.Gly1236=)
c.1135T=
c.965T=
n.188T=
c.3771T= (p.Gly1257=)
c.3717T= (p.Gly1239=)
c.3363T= (p.Gly1121=)
c.2052T= (p.Gly684=)
1g.11787457G>ACA338469282C1orf167,MTHFRc.3151G>A (p.Gly1051Arg)
c.3637G>A (p.Gly1213Arg)
c.*3223C>T (n.*3223C>T)
c.1787G>A
c.5317C>T (n.5317C>T)
c.3709G>A (p.Gly1237Arg)
c.1136G>A
c.966G>A
n.189G>A
c.3772G>A (p.Gly1258Arg)
c.3718G>A (p.Gly1240Arg)
c.3364G>A (p.Gly1122Arg)
c.2053G>A (p.Gly685Arg)
1g.11787457G>CCA338469283C1orf167,MTHFRc.3151G>C (p.Gly1051Arg)
c.3637G>C (p.Gly1213Arg)
c.*3223C>G (n.*3223C>G)
c.1787G>C
c.5317C>G (n.5317C>G)
c.3709G>C (p.Gly1237Arg)
c.1136G>C
c.966G>C
n.189G>C
c.3772G>C (p.Gly1258Arg)
c.3718G>C (p.Gly1240Arg)
c.3364G>C (p.Gly1122Arg)
c.2053G>C (p.Gly685Arg)
1g.11787457G>TCA338469284C1orf167,MTHFRc.3151G>T (p.Gly1051Ter)
c.3637G>T (p.Gly1213Ter)
c.*3223C>A (n.*3223C>A)
c.1787G>T
c.5317C>A (n.5317C>A)
c.3709G>T (p.Gly1237Ter)
c.1136G>T
c.966G>T
n.189G>T
c.3772G>T (p.Gly1258Ter)
c.3718G>T (p.Gly1240Ter)
c.3364G>T (p.Gly1122Ter)
c.2053G>T (p.Gly685Ter)
1g.11787458G>ACA338469285C1orf167,MTHFRc.3152G>A (p.Gly1051Glu)
c.3638G>A (p.Gly1213Glu)
c.*3222C>T (n.*3222C>T)
c.1788G>A
c.5316C>T (n.5316C>T)
c.3710G>A (p.Gly1237Glu)
c.1137G>A
c.967G>A
n.190G>A
c.3773G>A (p.Gly1258Glu)
c.3719G>A (p.Gly1240Glu)
c.3365G>A (p.Gly1122Glu)
c.2054G>A (p.Gly685Glu)
 dbSNP gnomAD v4
1g.11787458G>CCA338469286C1orf167,MTHFRc.3152G>C (p.Gly1051Ala)
c.3638G>C (p.Gly1213Ala)
c.*3222C>G (n.*3222C>G)
c.1788G>C
c.5316C>G (n.5316C>G)
c.3710G>C (p.Gly1237Ala)
c.1137G>C
c.967G>C
n.190G>C
c.3773G>C (p.Gly1258Ala)
c.3719G>C (p.Gly1240Ala)
c.3365G>C (p.Gly1122Ala)
c.2054G>C (p.Gly685Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.11787458G=CA1153785884C1orf167,MTHFRc.3152G= (p.Gly1051=)
c.3638G= (p.Gly1213=)
c.*3222C= (n.*3222C=)
c.1788G=
c.5316C= (n.5316C=)
c.3710G= (p.Gly1237=)
c.1137G=
c.967G=
n.190G=
c.3773G= (p.Gly1258=)
c.3719G= (p.Gly1240=)
c.3365G= (p.Gly1122=)
c.2054G= (p.Gly685=)
1g.11787458G>TCA338469287C1orf167,MTHFRc.3152G>T (p.Gly1051Val)
c.3638G>T (p.Gly1213Val)
c.*3222C>A (n.*3222C>A)
c.1788G>T
c.5316C>A (n.5316C>A)
c.3710G>T (p.Gly1237Val)
c.1137G>T
c.967G>T
n.190G>T
c.3773G>T (p.Gly1258Val)
c.3719G>T (p.Gly1240Val)
c.3365G>T (p.Gly1122Val)
c.2054G>T (p.Gly685Val)
 dbSNP
1g.11787459A>CCA416118836C1orf167,MTHFRc.3153A>C (p.Gly1051=)
c.3639A>C (p.Gly1213=)
c.*3221T>G (n.*3221T>G)
c.1789A>C
c.5315T>G (n.5315T>G)
c.3711A>C (p.Gly1237=)
c.1138A>C
c.968A>C
n.191A>C
c.3774A>C (p.Gly1258=)
c.3720A>C (p.Gly1240=)
c.3366A>C (p.Gly1122=)
c.2055A>C (p.Gly685=)
1g.11787459A>GCA416118835C1orf167,MTHFRc.3153A>G (p.Gly1051=)
c.3639A>G (p.Gly1213=)
c.*3221T>C (n.*3221T>C)
c.1789A>G
c.5315T>C (n.5315T>C)
c.3711A>G (p.Gly1237=)
c.1138A>G
c.968A>G
n.191A>G
c.3774A>G (p.Gly1258=)
c.3720A>G (p.Gly1240=)
c.3366A>G (p.Gly1122=)
c.2055A>G (p.Gly685=)
1g.11787459A>TCA416118834C1orf167,MTHFRc.3153A>T (p.Gly1051=)
c.3639A>T (p.Gly1213=)
c.*3221T>A (n.*3221T>A)
c.1789A>T
c.5315T>A (n.5315T>A)
c.3711A>T (p.Gly1237=)
c.1138A>T
c.968A>T
n.191A>T
c.3774A>T (p.Gly1258=)
c.3720A>T (p.Gly1240=)
c.3366A>T (p.Gly1122=)
c.2055A>T (p.Gly685=)
1g.11787460C>ACA416118837C1orf167,MTHFRc.3154C>A (p.Arg1052=)
c.3640C>A (p.Arg1214=)
c.*3220G>T (n.*3220G>T)
c.1790C>A
c.5314G>T (n.5314G>T)
c.3712C>A (p.Arg1238=)
c.1139C>A
c.969C>A
n.192C>A
c.3775C>A (p.Arg1259=)
c.3721C>A (p.Arg1241=)
c.3367C>A (p.Arg1123=)
c.2056C>A (p.Arg686=)
 gnomAD v4
1g.11787460C=CA1142364886C1orf167,MTHFRc.3154C= (p.Arg1052=)
c.3640C= (p.Arg1214=)
c.*3220G= (n.*3220G=)
c.1790C=
c.5314G= (n.5314G=)
c.3712C= (p.Arg1238=)
c.1139C=
c.969C=
n.192C=
c.3775C= (p.Arg1259=)
c.3721C= (p.Arg1241=)
c.3367C= (p.Arg1123=)
c.2056C= (p.Arg686=)
1g.11787460C>GCA338469288C1orf167,MTHFRc.3154C>G (p.Arg1052Gly)
c.3640C>G (p.Arg1214Gly)
c.*3220G>C (n.*3220G>C)
c.1790C>G
c.5314G>C (n.5314G>C)
c.3712C>G (p.Arg1238Gly)
c.1139C>G
c.969C>G
n.192C>G
c.3775C>G (p.Arg1259Gly)
c.3721C>G (p.Arg1241Gly)
c.3367C>G (p.Arg1123Gly)
c.2056C>G (p.Arg686Gly)
1g.11787460C>TCA595041C1orf167,MTHFRc.3154C>T (p.Arg1052Trp)
c.3640C>T (p.Arg1214Trp)
c.*3220G>A (n.*3220G>A)
c.1790C>T
c.5314G>A (n.5314G>A)
c.3712C>T (p.Arg1238Trp)
c.1139C>T
c.969C>T
n.192C>T
c.3775C>T (p.Arg1259Trp)
c.3721C>T (p.Arg1241Trp)
c.3367C>T (p.Arg1123Trp)
c.2056C>T (p.Arg686Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11787461G>ACA595042C1orf167,MTHFRc.3155G>A (p.Arg1052Gln)
c.3641G>A (p.Arg1214Gln)
c.*3219C>T (n.*3219C>T)
c.1791G>A
c.5313C>T (n.5313C>T)
c.3713G>A (p.Arg1238Gln)
c.1140G>A
c.970G>A
n.193G>A
c.3776G>A (p.Arg1259Gln)
c.3722G>A (p.Arg1241Gln)
c.3368G>A (p.Arg1123Gln)
c.2057G>A (p.Arg686Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11787461G>CCA338469289C1orf167,MTHFRc.3155G>C (p.Arg1052Pro)
c.3641G>C (p.Arg1214Pro)
c.*3219C>G (n.*3219C>G)
c.1791G>C
c.5313C>G (n.5313C>G)
c.3713G>C (p.Arg1238Pro)
c.1140G>C
c.970G>C
n.193G>C
c.3776G>C (p.Arg1259Pro)
c.3722G>C (p.Arg1241Pro)
c.3368G>C (p.Arg1123Pro)
c.2057G>C (p.Arg686Pro)
1g.11787461G=CA1147198620C1orf167,MTHFRc.3155G= (p.Arg1052=)
c.3641G= (p.Arg1214=)
c.*3219C= (n.*3219C=)
c.1791G=
c.5313C= (n.5313C=)
c.3713G= (p.Arg1238=)
c.1140G=
c.970G=
n.193G=
c.3776G= (p.Arg1259=)
c.3722G= (p.Arg1241=)
c.3368G= (p.Arg1123=)
c.2057G= (p.Arg686=)
1g.11787461G>TCA595043C1orf167,MTHFRc.3155G>T (p.Arg1052Leu)
c.3641G>T (p.Arg1214Leu)
c.*3219C>A (n.*3219C>A)
c.1791G>T
c.5313C>A (n.5313C>A)
c.3713G>T (p.Arg1238Leu)
c.1140G>T
c.970G>T
n.193G>T
c.3776G>T (p.Arg1259Leu)
c.3722G>T (p.Arg1241Leu)
c.3368G>T (p.Arg1123Leu)
c.2057G>T (p.Arg686Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11787462G>ACA416118838C1orf167,MTHFRc.3156G>A (p.Arg1052=)
c.3642G>A (p.Arg1214=)
c.*3218C>T (n.*3218C>T)
c.1792G>A
c.5312C>T (n.5312C>T)
c.3714G>A (p.Arg1238=)
c.1141G>A
c.971G>A
n.194G>A
c.3777G>A (p.Arg1259=)
c.3723G>A (p.Arg1241=)
c.3369G>A (p.Arg1123=)
c.2058G>A (p.Arg686=)
 dbSNP gnomAD v2 gnomAD v4
1g.11787462G>CCA416118839C1orf167,MTHFRc.3156G>C (p.Arg1052=)
c.3642G>C (p.Arg1214=)
c.*3218C>G (n.*3218C>G)
c.1792G>C
c.5312C>G (n.5312C>G)
c.3714G>C (p.Arg1238=)
c.1141G>C
c.971G>C
n.194G>C
c.3777G>C (p.Arg1259=)
c.3723G>C (p.Arg1241=)
c.3369G>C (p.Arg1123=)
c.2058G>C (p.Arg686=)
1g.11787462G=CA1153785893C1orf167,MTHFRc.3156G= (p.Arg1052=)
c.3642G= (p.Arg1214=)
c.*3218C= (n.*3218C=)
c.1792G=
c.5312C= (n.5312C=)
c.3714G= (p.Arg1238=)
c.1141G=
c.971G=
n.194G=
c.3777G= (p.Arg1259=)
c.3723G= (p.Arg1241=)
c.3369G= (p.Arg1123=)
c.2058G= (p.Arg686=)
1g.11787462G>TCA416118840C1orf167,MTHFRc.3156G>T (p.Arg1052=)
c.3642G>T (p.Arg1214=)
c.*3218C>A (n.*3218C>A)
c.1792G>T
c.5312C>A (n.5312C>A)
c.3714G>T (p.Arg1238=)
c.1141G>T
c.971G>T
n.194G>T
c.3777G>T (p.Arg1259=)
c.3723G>T (p.Arg1241=)
c.3369G>T (p.Arg1123=)
c.2058G>T (p.Arg686=)
 gnomAD v4
1g.11787463A>CCA416118841C1orf167,MTHFRc.3157A>C (p.Arg1053=)
c.3643A>C (p.Arg1215=)
c.*3217T>G (n.*3217T>G)
c.1793A>C
c.5311T>G (n.5311T>G)
c.3715A>C (p.Arg1239=)
c.1142A>C
c.972A>C
n.195A>C
c.3778A>C (p.Arg1260=)
c.3724A>C (p.Arg1242=)
c.3370A>C (p.Arg1124=)
c.2059A>C (p.Arg687=)
 gnomAD v4
1g.11787463A>GCA338469290C1orf167,MTHFRc.3157A>G (p.Arg1053Gly)
c.3643A>G (p.Arg1215Gly)
c.*3217T>C (n.*3217T>C)
c.1793A>G
c.5311T>C (n.5311T>C)
c.3715A>G (p.Arg1239Gly)
c.1142A>G
c.972A>G
n.195A>G
c.3778A>G (p.Arg1260Gly)
c.3724A>G (p.Arg1242Gly)
c.3370A>G (p.Arg1124Gly)
c.2059A>G (p.Arg687Gly)
 gnomAD v4
1g.11787463A>TCA338469291C1orf167,MTHFRc.3157A>T (p.Arg1053Trp)
c.3643A>T (p.Arg1215Trp)
c.*3217T>A (n.*3217T>A)
c.1793A>T
c.5311T>A (n.5311T>A)
c.3715A>T (p.Arg1239Trp)
c.1142A>T
c.972A>T
n.195A>T
c.3778A>T (p.Arg1260Trp)
c.3724A>T (p.Arg1242Trp)
c.3370A>T (p.Arg1124Trp)
c.2059A>T (p.Arg687Trp)
1g.11787464G>ACA338469292C1orf167,MTHFRc.3158G>A (p.Arg1053Lys)
c.3644G>A (p.Arg1215Lys)
c.*3216C>T (n.*3216C>T)
c.1794G>A
c.5310C>T (n.5310C>T)
c.3716G>A (p.Arg1239Lys)
c.1143G>A
c.973G>A
n.196G>A
c.3779G>A (p.Arg1260Lys)
c.3725G>A (p.Arg1242Lys)
c.3371G>A (p.Arg1124Lys)
c.2060G>A (p.Arg687Lys)
1g.11787464G>CCA338469293C1orf167,MTHFRc.3158G>C (p.Arg1053Thr)
c.3644G>C (p.Arg1215Thr)
c.*3216C>G (n.*3216C>G)
c.1794G>C
c.5310C>G (n.5310C>G)
c.3716G>C (p.Arg1239Thr)
c.1143G>C
c.973G>C
n.196G>C
c.3779G>C (p.Arg1260Thr)
c.3725G>C (p.Arg1242Thr)
c.3371G>C (p.Arg1124Thr)
c.2060G>C (p.Arg687Thr)
1g.11787464G>TCA338469294C1orf167,MTHFRc.3158G>T (p.Arg1053Met)
c.3644G>T (p.Arg1215Met)
c.*3216C>A (n.*3216C>A)
c.1794G>T
c.5310C>A (n.5310C>A)
c.3716G>T (p.Arg1239Met)
c.1143G>T
c.973G>T
n.196G>T
c.3779G>T (p.Arg1260Met)
c.3725G>T (p.Arg1242Met)
c.3371G>T (p.Arg1124Met)
c.2060G>T (p.Arg687Met)
1g.11787465G>ACA416118843C1orf167,MTHFRc.3159G>A (p.Arg1053=)
c.3645G>A (p.Arg1215=)
c.*3215C>T (n.*3215C>T)
c.1795G>A
c.5309C>T (n.5309C>T)
c.3717G>A (p.Arg1239=)
c.1144G>A
c.974G>A
n.197G>A
c.3780G>A (p.Arg1260=)
c.3726G>A (p.Arg1242=)
c.3372G>A (p.Arg1124=)
c.2061G>A (p.Arg687=)
1g.11787465G>CCA338469295C1orf167,MTHFRc.3159G>C (p.Arg1053Ser)
c.3645G>C (p.Arg1215Ser)
c.*3215C>G (n.*3215C>G)
c.1795G>C
c.5309C>G (n.5309C>G)
c.3717G>C (p.Arg1239Ser)
c.1144G>C
c.974G>C
n.197G>C
c.3780G>C (p.Arg1260Ser)
c.3726G>C (p.Arg1242Ser)
c.3372G>C (p.Arg1124Ser)
c.2061G>C (p.Arg687Ser)
1g.11787465G>TCA338469296C1orf167,MTHFRc.3159G>T (p.Arg1053Ser)
c.3645G>T (p.Arg1215Ser)
c.*3215C>A (n.*3215C>A)
c.1795G>T
c.5309C>A (n.5309C>A)
c.3717G>T (p.Arg1239Ser)
c.1144G>T
c.974G>T
n.197G>T
c.3780G>T (p.Arg1260Ser)
c.3726G>T (p.Arg1242Ser)
c.3372G>T (p.Arg1124Ser)
c.2061G>T (p.Arg687Ser)
1g.11787466A>CCA338469297C1orf167,MTHFRc.3160A>C (p.Lys1054Gln)
c.3646A>C (p.Lys1216Gln)
c.*3214T>G (n.*3214T>G)
c.1796A>C
c.5308T>G (n.5308T>G)
c.3718A>C (p.Lys1240Gln)
c.1145A>C
c.975A>C
n.198A>C
c.3781A>C (p.Lys1261Gln)
c.3727A>C (p.Lys1243Gln)
c.3373A>C (p.Lys1125Gln)
c.2062A>C (p.Lys688Gln)
1g.11787466A>GCA338469298C1orf167,MTHFRc.3160A>G (p.Lys1054Glu)
c.3646A>G (p.Lys1216Glu)
c.*3214T>C (n.*3214T>C)
c.1796A>G
c.5308T>C (n.5308T>C)
c.3718A>G (p.Lys1240Glu)
c.1145A>G
c.975A>G
n.198A>G
c.3781A>G (p.Lys1261Glu)
c.3727A>G (p.Lys1243Glu)
c.3373A>G (p.Lys1125Glu)
c.2062A>G (p.Lys688Glu)
1g.11787466A>TCA338469299C1orf167,MTHFRc.3160A>T (p.Lys1054Ter)
c.3646A>T (p.Lys1216Ter)
c.*3214T>A (n.*3214T>A)
c.1796A>T
c.5308T>A (n.5308T>A)
c.3718A>T (p.Lys1240Ter)
c.1145A>T
c.975A>T
n.198A>T
c.3781A>T (p.Lys1261Ter)
c.3727A>T (p.Lys1243Ter)
c.3373A>T (p.Lys1125Ter)
c.2062A>T (p.Lys688Ter)
 gnomAD v4
1g.11787467A>CCA338469300C1orf167,MTHFRc.3161A>C (p.Lys1054Thr)
c.3647A>C (p.Lys1216Thr)
c.*3213T>G (n.*3213T>G)
c.1797A>C
c.5307T>G (n.5307T>G)
c.3719A>C (p.Lys1240Thr)
c.1146A>C
c.976A>C
n.199A>C
c.3782A>C (p.Lys1261Thr)
c.3728A>C (p.Lys1243Thr)
c.3374A>C (p.Lys1125Thr)
c.2063A>C (p.Lys688Thr)
1g.11787467A>GCA338469301C1orf167,MTHFRc.3161A>G (p.Lys1054Arg)
c.3647A>G (p.Lys1216Arg)
c.*3213T>C (n.*3213T>C)
c.1797A>G
c.5307T>C (n.5307T>C)
c.3719A>G (p.Lys1240Arg)
c.1146A>G
c.976A>G
n.199A>G
c.3782A>G (p.Lys1261Arg)
c.3728A>G (p.Lys1243Arg)
c.3374A>G (p.Lys1125Arg)
c.2063A>G (p.Lys688Arg)
1g.11787467A>TCA338469302C1orf167,MTHFRc.3161A>T (p.Lys1054Met)
c.3647A>T (p.Lys1216Met)
c.*3213T>A (n.*3213T>A)
c.1797A>T
c.5307T>A (n.5307T>A)
c.3719A>T (p.Lys1240Met)
c.1146A>T
c.976A>T
n.199A>T
c.3782A>T (p.Lys1261Met)
c.3728A>T (p.Lys1243Met)
c.3374A>T (p.Lys1125Met)
c.2063A>T (p.Lys688Met)
1g.11787468G>ACA416118844C1orf167,MTHFRc.3162G>A (p.Lys1054=)
c.3648G>A (p.Lys1216=)
c.*3212C>T (n.*3212C>T)
c.1798G>A
c.5306C>T (n.5306C>T)
c.3720G>A (p.Lys1240=)
c.1147G>A
c.977G>A
n.200G>A
c.3783G>A (p.Lys1261=)
c.3729G>A (p.Lys1243=)
c.3375G>A (p.Lys1125=)
c.2064G>A (p.Lys688=)
1g.11787468G>CCA338469303C1orf167,MTHFRc.3162G>C (p.Lys1054Asn)
c.3648G>C (p.Lys1216Asn)
c.*3212C>G (n.*3212C>G)
c.1798G>C
c.5306C>G (n.5306C>G)
c.3720G>C (p.Lys1240Asn)
c.1147G>C
c.977G>C
n.200G>C
c.3783G>C (p.Lys1261Asn)
c.3729G>C (p.Lys1243Asn)
c.3375G>C (p.Lys1125Asn)
c.2064G>C (p.Lys688Asn)
1g.11787468G>TCA338469304C1orf167,MTHFRc.3162G>T (p.Lys1054Asn)
c.3648G>T (p.Lys1216Asn)
c.*3212C>A (n.*3212C>A)
c.1798G>T
c.5306C>A (n.5306C>A)
c.3720G>T (p.Lys1240Asn)
c.1147G>T
c.977G>T
n.200G>T
c.3783G>T (p.Lys1261Asn)
c.3729G>T (p.Lys1243Asn)
c.3375G>T (p.Lys1125Asn)
c.2064G>T (p.Lys688Asn)
 gnomAD v4 COSMIC COSMIC
1g.11787469C>ACA338469307C1orf167,MTHFRc.3163C>A (p.Pro1055Thr)
c.3649C>A (p.Pro1217Thr)
c.*3211G>T (n.*3211G>T)
c.1799C>A
c.5305G>T (n.5305G>T)
c.3721C>A (p.Pro1241Thr)
c.1148C>A
c.978C>A
n.201C>A
c.3784C>A (p.Pro1262Thr)
c.3730C>A (p.Pro1244Thr)
c.3376C>A (p.Pro1126Thr)
c.2065C>A (p.Pro689Thr)
 gnomAD v4
1g.11787469C>GCA338469306C1orf167,MTHFRc.3163C>G (p.Pro1055Ala)
c.3649C>G (p.Pro1217Ala)
c.*3211G>C (n.*3211G>C)
c.1799C>G
c.5305G>C (n.5305G>C)
c.3721C>G (p.Pro1241Ala)
c.1148C>G
c.978C>G
n.201C>G
c.3784C>G (p.Pro1262Ala)
c.3730C>G (p.Pro1244Ala)
c.3376C>G (p.Pro1126Ala)
c.2065C>G (p.Pro689Ala)
 gnomAD v4
1g.11787469C>TCA338469305C1orf167,MTHFRc.3163C>T (p.Pro1055Ser)
c.3649C>T (p.Pro1217Ser)
c.*3211G>A (n.*3211G>A)
c.1799C>T
c.5305G>A (n.5305G>A)
c.3721C>T (p.Pro1241Ser)
c.1148C>T
c.978C>T
n.201C>T
c.3784C>T (p.Pro1262Ser)
c.3730C>T (p.Pro1244Ser)
c.3376C>T (p.Pro1126Ser)
c.2065C>T (p.Pro689Ser)
1g.11787470C>ACA338469308C1orf167,MTHFRc.3164C>A (p.Pro1055Gln)
c.3650C>A (p.Pro1217Gln)
c.*3210G>T (n.*3210G>T)
c.1800C>A
c.5304G>T (n.5304G>T)
c.3722C>A (p.Pro1241Gln)
c.1149C>A
c.979C>A
n.202C>A
c.3785C>A (p.Pro1262Gln)
c.3731C>A (p.Pro1244Gln)
c.3377C>A (p.Pro1126Gln)
c.2066C>A (p.Pro689Gln)
1g.11787470C=CA1153785896C1orf167,MTHFRc.3164C= (p.Pro1055=)
c.3650C= (p.Pro1217=)
c.*3210G= (n.*3210G=)
c.1800C=
c.5304G= (n.5304G=)
c.3722C= (p.Pro1241=)
c.1149C=
c.979C=
n.202C=
c.3785C= (p.Pro1262=)
c.3731C= (p.Pro1244=)
c.3377C= (p.Pro1126=)
c.2066C= (p.Pro689=)
1g.11787470C>GCA338469309C1orf167,MTHFRc.3164C>G (p.Pro1055Arg)
c.3650C>G (p.Pro1217Arg)
c.*3210G>C (n.*3210G>C)
c.1800C>G
c.5304G>C (n.5304G>C)
c.3722C>G (p.Pro1241Arg)
c.1149C>G
c.979C>G
n.202C>G
c.3785C>G (p.Pro1262Arg)
c.3731C>G (p.Pro1244Arg)
c.3377C>G (p.Pro1126Arg)
c.2066C>G (p.Pro689Arg)
1g.11787470C>TCA338469310C1orf167,MTHFRc.3164C>T (p.Pro1055Leu)
c.3650C>T (p.Pro1217Leu)
c.*3210G>A (n.*3210G>A)
c.1800C>T
c.5304G>A (n.5304G>A)
c.3722C>T (p.Pro1241Leu)
c.1149C>T
c.979C>T
n.202C>T
c.3785C>T (p.Pro1262Leu)
c.3731C>T (p.Pro1244Leu)
c.3377C>T (p.Pro1126Leu)
c.2066C>T (p.Pro689Leu)
 dbSNP
1g.11787471A>CCA416118845C1orf167,MTHFRc.3165A>C (p.Pro1055=)
c.3651A>C (p.Pro1217=)
c.*3209T>G (n.*3209T>G)
c.1801A>C
c.5303T>G (n.5303T>G)
c.3723A>C (p.Pro1241=)
c.1150A>C
c.980A>C
n.203A>C
c.3786A>C (p.Pro1262=)
c.3732A>C (p.Pro1244=)
c.3378A>C (p.Pro1126=)
c.2067A>C (p.Pro689=)
1g.11787471A>GCA416118846C1orf167,MTHFRc.3165A>G (p.Pro1055=)
c.3651A>G (p.Pro1217=)
c.*3209T>C (n.*3209T>C)
c.1801A>G
c.5303T>C (n.5303T>C)
c.3723A>G (p.Pro1241=)
c.1150A>G
c.980A>G
n.203A>G
c.3786A>G (p.Pro1262=)
c.3732A>G (p.Pro1244=)
c.3378A>G (p.Pro1126=)
c.2067A>G (p.Pro689=)
1g.11787471A>TCA416118847C1orf167,MTHFRc.3165A>T (p.Pro1055=)
c.3651A>T (p.Pro1217=)
c.*3209T>A (n.*3209T>A)
c.1801A>T
c.5303T>A (n.5303T>A)
c.3723A>T (p.Pro1241=)
c.1150A>T
c.980A>T
n.203A>T
c.3786A>T (p.Pro1262=)
c.3732A>T (p.Pro1244=)
c.3378A>T (p.Pro1126=)
c.2067A>T (p.Pro689=)
1g.11787472A>CCA416118848C1orf167,MTHFRc.3166A>C (p.Arg1056=)
c.3652A>C (p.Arg1218=)
c.*3208T>G (n.*3208T>G)
c.1802A>C
c.5302T>G (n.5302T>G)
c.3724A>C (p.Arg1242=)
c.1151A>C
c.981A>C
n.204A>C
c.3787A>C (p.Arg1263=)
c.3733A>C (p.Arg1245=)
c.3379A>C (p.Arg1127=)
c.2068A>C (p.Arg690=)
1g.11787472A>GCA338469311C1orf167,MTHFRc.3166A>G (p.Arg1056Gly)
c.3652A>G (p.Arg1218Gly)
c.*3208T>C (n.*3208T>C)
c.1802A>G
c.5302T>C (n.5302T>C)
c.3724A>G (p.Arg1242Gly)
c.1151A>G
c.981A>G
n.204A>G
c.3787A>G (p.Arg1263Gly)
c.3733A>G (p.Arg1245Gly)
c.3379A>G (p.Arg1127Gly)
c.2068A>G (p.Arg690Gly)
1g.11787472A>TCA338469312C1orf167,MTHFRc.3166A>T (p.Arg1056Trp)
c.3652A>T (p.Arg1218Trp)
c.*3208T>A (n.*3208T>A)
c.1802A>T
c.5302T>A (n.5302T>A)
c.3724A>T (p.Arg1242Trp)
c.1151A>T
c.981A>T
n.204A>T
c.3787A>T (p.Arg1263Trp)
c.3733A>T (p.Arg1245Trp)
c.3379A>T (p.Arg1127Trp)
c.2068A>T (p.Arg690Trp)
 gnomAD v4
1g.11787473G>ACA338469313C1orf167,MTHFRc.3167G>A (p.Arg1056Lys)
c.3653G>A (p.Arg1218Lys)
c.*3207C>T (n.*3207C>T)
c.1803G>A
c.5301C>T (n.5301C>T)
c.3725G>A (p.Arg1242Lys)
c.1152G>A
c.982G>A
n.205G>A
c.3788G>A (p.Arg1263Lys)
c.3734G>A (p.Arg1245Lys)
c.3380G>A (p.Arg1127Lys)
c.2069G>A (p.Arg690Lys)
1g.11787473G>CCA338469314C1orf167,MTHFRc.3167G>C (p.Arg1056Thr)
c.3653G>C (p.Arg1218Thr)
c.*3207C>G (n.*3207C>G)
c.1803G>C
c.5301C>G (n.5301C>G)
c.3725G>C (p.Arg1242Thr)
c.1152G>C
c.982G>C
n.205G>C
c.3788G>C (p.Arg1263Thr)
c.3734G>C (p.Arg1245Thr)
c.3380G>C (p.Arg1127Thr)
c.2069G>C (p.Arg690Thr)
1g.11787473G>TCA338469315C1orf167,MTHFRc.3167G>T (p.Arg1056Met)
c.3653G>T (p.Arg1218Met)
c.*3207C>A (n.*3207C>A)
c.1803G>T
c.5301C>A (n.5301C>A)
c.3725G>T (p.Arg1242Met)
c.1152G>T
c.982G>T
n.205G>T
c.3788G>T (p.Arg1263Met)
c.3734G>T (p.Arg1245Met)
c.3380G>T (p.Arg1127Met)
c.2069G>T (p.Arg690Met)
1g.11787474G>ACA416118849C1orf167,MTHFRc.3168G>A (p.Arg1056=)
c.3654G>A (p.Arg1218=)
c.*3206C>T (n.*3206C>T)
c.1804G>A
c.5300C>T (n.5300C>T)
c.3726G>A (p.Arg1242=)
c.1153G>A
c.983G>A
n.206G>A
c.3789G>A (p.Arg1263=)
c.3735G>A (p.Arg1245=)
c.3381G>A (p.Arg1127=)
c.2070G>A (p.Arg690=)
1g.11787474G>CCA338469316C1orf167,MTHFRc.3168G>C (p.Arg1056Ser)
c.3654G>C (p.Arg1218Ser)
c.*3206C>G (n.*3206C>G)
c.1804G>C
c.5300C>G (n.5300C>G)
c.3726G>C (p.Arg1242Ser)
c.1153G>C
c.983G>C
n.206G>C
c.3789G>C (p.Arg1263Ser)
c.3735G>C (p.Arg1245Ser)
c.3381G>C (p.Arg1127Ser)
c.2070G>C (p.Arg690Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.11787474G=CA1153785900C1orf167,MTHFRc.3168G= (p.Arg1056=)
c.3654G= (p.Arg1218=)
c.*3206C= (n.*3206C=)
c.1804G=
c.5300C= (n.5300C=)
c.3726G= (p.Arg1242=)
c.1153G=
c.983G=
n.206G=
c.3789G= (p.Arg1263=)
c.3735G= (p.Arg1245=)
c.3381G= (p.Arg1127=)
c.2070G= (p.Arg690=)
1g.11787474G>TCA338469317C1orf167,MTHFRc.3168G>T (p.Arg1056Ser)
c.3654G>T (p.Arg1218Ser)
c.*3206C>A (n.*3206C>A)
c.1804G>T
c.5300C>A (n.5300C>A)
c.3726G>T (p.Arg1242Ser)
c.1153G>T
c.983G>T
n.206G>T
c.3789G>T (p.Arg1263Ser)
c.3735G>T (p.Arg1245Ser)
c.3381G>T (p.Arg1127Ser)
c.2070G>T (p.Arg690Ser)
1g.11787475G>ACA338469318C1orf167,MTHFRc.3169G>A (p.Gly1057Arg)
c.3655G>A (p.Gly1219Arg)
c.*3205C>T (n.*3205C>T)
c.1805G>A
c.5299C>T (n.5299C>T)
c.3727G>A (p.Gly1243Arg)
c.1154G>A
c.984G>A
n.207G>A
c.3790G>A (p.Gly1264Arg)
c.3736G>A (p.Gly1246Arg)
c.3382G>A (p.Gly1128Arg)
c.2071G>A (p.Gly691Arg)
 dbSNP
1g.11787475G>CCA338469319C1orf167,MTHFRc.3169G>C (p.Gly1057Arg)
c.3655G>C (p.Gly1219Arg)
c.*3205C>G (n.*3205C>G)
c.1805G>C
c.5299C>G (n.5299C>G)
c.3727G>C (p.Gly1243Arg)
c.1154G>C
c.984G>C
n.207G>C
c.3790G>C (p.Gly1264Arg)
c.3736G>C (p.Gly1246Arg)
c.3382G>C (p.Gly1128Arg)
c.2071G>C (p.Gly691Arg)
1g.11787475G=CA1153785903C1orf167,MTHFRc.3169G= (p.Gly1057=)
c.3655G= (p.Gly1219=)
c.*3205C= (n.*3205C=)
c.1805G=
c.5299C= (n.5299C=)
c.3727G= (p.Gly1243=)
c.1154G=
c.984G=
n.207G=
c.3790G= (p.Gly1264=)
c.3736G= (p.Gly1246=)
c.3382G= (p.Gly1128=)
c.2071G= (p.Gly691=)
1g.11787475G>TCA338469320C1orf167,MTHFRc.3169G>T (p.Gly1057Ter)
c.3655G>T (p.Gly1219Ter)
c.*3205C>A (n.*3205C>A)
c.1805G>T
c.5299C>A (n.5299C>A)
c.3727G>T (p.Gly1243Ter)
c.1154G>T
c.984G>T
n.207G>T
c.3790G>T (p.Gly1264Ter)
c.3736G>T (p.Gly1246Ter)
c.3382G>T (p.Gly1128Ter)
c.2071G>T (p.Gly691Ter)
1g.11787476G>ACA338469321C1orf167,MTHFRc.3170G>A (p.Gly1057Glu)
c.3656G>A (p.Gly1219Glu)
c.*3204C>T (n.*3204C>T)
c.1806G>A
c.5298C>T (n.5298C>T)
c.3728G>A (p.Gly1243Glu)
c.1155G>A
c.985G>A
n.208G>A
c.3791G>A (p.Gly1264Glu)
c.3737G>A (p.Gly1246Glu)
c.3383G>A (p.Gly1128Glu)
c.2072G>A (p.Gly691Glu)
1g.11787476G>CCA338469322C1orf167,MTHFRc.3170G>C (p.Gly1057Ala)
c.3656G>C (p.Gly1219Ala)
c.*3204C>G (n.*3204C>G)
c.1806G>C
c.5298C>G (n.5298C>G)
c.3728G>C (p.Gly1243Ala)
c.1155G>C
c.985G>C
n.208G>C
c.3791G>C (p.Gly1264Ala)
c.3737G>C (p.Gly1246Ala)
c.3383G>C (p.Gly1128Ala)
c.2072G>C (p.Gly691Ala)
1g.11787476G=CA1153785909C1orf167,MTHFRc.3170G= (p.Gly1057=)
c.3656G= (p.Gly1219=)
c.*3204C= (n.*3204C=)
c.1806G=
c.5298C= (n.5298C=)
c.3728G= (p.Gly1243=)
c.1155G=
c.985G=
n.208G=
c.3791G= (p.Gly1264=)
c.3737G= (p.Gly1246=)
c.3383G= (p.Gly1128=)
c.2072G= (p.Gly691=)
1g.11787476G>TCA17995511C1orf167,MTHFRc.3170G>T (p.Gly1057Val)
c.3656G>T (p.Gly1219Val)
c.*3204C>A (n.*3204C>A)
c.1806G>T
c.5298C>A (n.5298C>A)
c.3728G>T (p.Gly1243Val)
c.1155G>T
c.985G>T
n.208G>T
c.3791G>T (p.Gly1264Val)
c.3737G>T (p.Gly1246Val)
c.3383G>T (p.Gly1128Val)
c.2072G>T (p.Gly691Val)
 dbSNP gnomAD v3 gnomAD v4
1g.11787476_11787478dupCA886035626C1orf167,MTHFRc.3170_3172dup (p.Gly1057_Thr1058insArg)
c.3656_3658dup (p.Gly1219_Thr1220insArg)
c.*3202_*3204dup (n.*3202_*3204dup)
c.1806_1808dup
c.5296_5298dup (n.5296_5298dup)
c.3728_3730dup (p.Gly1243_Thr1244insArg)
c.1155_1157dup
c.985_987dup
n.208_210dup
c.3791_3793dup (p.Gly1264_Thr1265insArg)
c.3737_3739dup (p.Gly1246_Thr1247insArg)
c.3383_3385dup (p.Gly1128_Thr1129insArg)
c.2072_2074dup (p.Gly691_Thr692insArg)
 dbSNP gnomAD v3 gnomAD v4
1g.11787477A>CCA416118850C1orf167,MTHFRc.3171A>C (p.Gly1057=)
c.3657A>C (p.Gly1219=)
c.*3203T>G (n.*3203T>G)
c.1807A>C
c.5297T>G (n.5297T>G)
c.3729A>C (p.Gly1243=)
c.1156A>C
c.986A>C
n.209A>C
c.3792A>C (p.Gly1264=)
c.3738A>C (p.Gly1246=)
c.3384A>C (p.Gly1128=)
c.2073A>C (p.Gly691=)
1g.11787477A>GCA416118851C1orf167,MTHFRc.3171A>G (p.Gly1057=)
c.3657A>G (p.Gly1219=)
c.*3203T>C (n.*3203T>C)
c.1807A>G
c.5297T>C (n.5297T>C)
c.3729A>G (p.Gly1243=)
c.1156A>G
c.986A>G
n.209A>G
c.3792A>G (p.Gly1264=)
c.3738A>G (p.Gly1246=)
c.3384A>G (p.Gly1128=)
c.2073A>G (p.Gly691=)
1g.11787477A>TCA416118852C1orf167,MTHFRc.3171A>T (p.Gly1057=)
c.3657A>T (p.Gly1219=)
c.*3203T>A (n.*3203T>A)
c.1807A>T
c.5297T>A (n.5297T>A)
c.3729A>T (p.Gly1243=)
c.1156A>T
c.986A>T
n.209A>T
c.3792A>T (p.Gly1264=)
c.3738A>T (p.Gly1246=)
c.3384A>T (p.Gly1128=)
c.2073A>T (p.Gly691=)
1g.11787478dupCA916109495C1orf167,MTHFRc.3172dup (p.Thr1058AsnfsTer27)
c.3658dup (p.Thr1220AsnfsTer27)
c.*3203dup (n.*3203dup)
c.1808dup
c.5297dup (n.5297dup)
c.3730dup (p.Thr1244AsnfsTer27)
c.1157dup
c.987dup
n.210dup
c.3793dup (p.Thr1265AsnfsTer27)
c.3739dup (p.Thr1247AsnfsTer27)
c.3385dup (p.Thr1129AsnfsTer27)
c.2074dup (p.Thr692AsnfsTer27)
 dbSNP gnomAD v4
1g.11787478A>CCA338469323C1orf167,MTHFRc.3172A>C (p.Thr1058Pro)
c.3658A>C (p.Thr1220Pro)
c.*3202T>G (n.*3202T>G)
c.1808A>C
c.5296T>G (n.5296T>G)
c.3730A>C (p.Thr1244Pro)
c.1157A>C
c.987A>C
n.210A>C
c.3793A>C (p.Thr1265Pro)
c.3739A>C (p.Thr1247Pro)
c.3385A>C (p.Thr1129Pro)
c.2074A>C (p.Thr692Pro)
1g.11787478A>GCA338469325C1orf167,MTHFRc.3172A>G (p.Thr1058Ala)
c.3658A>G (p.Thr1220Ala)
c.*3202T>C (n.*3202T>C)
c.1808A>G
c.5296T>C (n.5296T>C)
c.3730A>G (p.Thr1244Ala)
c.1157A>G
c.987A>G
n.210A>G
c.3793A>G (p.Thr1265Ala)
c.3739A>G (p.Thr1247Ala)
c.3385A>G (p.Thr1129Ala)
c.2074A>G (p.Thr692Ala)
 gnomAD v4
1g.11787478A>TCA338469324C1orf167,MTHFRc.3172A>T (p.Thr1058Ser)
c.3658A>T (p.Thr1220Ser)
c.*3202T>A (n.*3202T>A)
c.1808A>T
c.5296T>A (n.5296T>A)
c.3730A>T (p.Thr1244Ser)
c.1157A>T
c.987A>T
n.210A>T
c.3793A>T (p.Thr1265Ser)
c.3739A>T (p.Thr1247Ser)
c.3385A>T (p.Thr1129Ser)
c.2074A>T (p.Thr692Ser)
1g.11787479C>ACA338469326C1orf167,MTHFRc.3173C>A (p.Thr1058Lys)
c.3659C>A (p.Thr1220Lys)
c.*3201G>T (n.*3201G>T)
c.1809C>A
c.5295G>T (n.5295G>T)
c.3731C>A (p.Thr1244Lys)
c.1158C>A
c.988C>A
n.211C>A
c.3794C>A (p.Thr1265Lys)
c.3740C>A (p.Thr1247Lys)
c.3386C>A (p.Thr1129Lys)
c.2075C>A (p.Thr692Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.11787479C=CA1153785913C1orf167,MTHFRc.3173C= (p.Thr1058=)
c.3659C= (p.Thr1220=)
c.*3201G= (n.*3201G=)
c.1809C=
c.5295G= (n.5295G=)
c.3731C= (p.Thr1244=)
c.1158C=
c.988C=
n.211C=
c.3794C= (p.Thr1265=)
c.3740C= (p.Thr1247=)
c.3386C= (p.Thr1129=)
c.2075C= (p.Thr692=)
1g.11787479C>GCA595045C1orf167,MTHFRc.3173C>G (p.Thr1058Arg)
c.3659C>G (p.Thr1220Arg)
c.*3201G>C (n.*3201G>C)
c.1809C>G
c.5295G>C (n.5295G>C)
c.3731C>G (p.Thr1244Arg)
c.1158C>G
c.988C>G
n.211C>G
c.3794C>G (p.Thr1265Arg)
c.3740C>G (p.Thr1247Arg)
c.3386C>G (p.Thr1129Arg)
c.2075C>G (p.Thr692Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11787479C>TCA595044C1orf167,MTHFRc.3173C>T (p.Thr1058Met)
c.3659C>T (p.Thr1220Met)
c.*3201G>A (n.*3201G>A)
c.1809C>T
c.5295G>A (n.5295G>A)
c.3731C>T (p.Thr1244Met)
c.1158C>T
c.988C>T
n.211C>T
c.3794C>T (p.Thr1265Met)
c.3740C>T (p.Thr1247Met)
c.3386C>T (p.Thr1129Met)
c.2075C>T (p.Thr692Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11787480G>ACA416118853C1orf167,MTHFRc.3174G>A (p.Thr1058=)
c.3660G>A (p.Thr1220=)
c.*3200C>T (n.*3200C>T)
c.1810G>A
c.5294C>T (n.5294C>T)
c.3732G>A (p.Thr1244=)
c.1159G>A
c.989G>A
n.212G>A
c.3795G>A (p.Thr1265=)
c.3741G>A (p.Thr1247=)
c.3387G>A (p.Thr1129=)
c.2076G>A (p.Thr692=)
 dbSNP gnomAD v2 gnomAD v4
1g.11787480G>CCA416118855C1orf167,MTHFRc.3174G>C (p.Thr1058=)
c.3660G>C (p.Thr1220=)
c.*3200C>G (n.*3200C>G)
c.1810G>C
c.5294C>G (n.5294C>G)
c.3732G>C (p.Thr1244=)
c.1159G>C
c.989G>C
n.212G>C
c.3795G>C (p.Thr1265=)
c.3741G>C (p.Thr1247=)
c.3387G>C (p.Thr1129=)
c.2076G>C (p.Thr692=)
 gnomAD v4
1g.11787480G=CA1153785917C1orf167,MTHFRc.3174G= (p.Thr1058=)
c.3660G= (p.Thr1220=)
c.*3200C= (n.*3200C=)
c.1810G=
c.5294C= (n.5294C=)
c.3732G= (p.Thr1244=)
c.1159G=
c.989G=
n.212G=
c.3795G= (p.Thr1265=)
c.3741G= (p.Thr1247=)
c.3387G= (p.Thr1129=)
c.2076G= (p.Thr692=)
1g.11787480G>TCA416118854C1orf167,MTHFRc.3174G>T (p.Thr1058=)
c.3660G>T (p.Thr1220=)
c.*3200C>A (n.*3200C>A)
c.1810G>T
c.5294C>A (n.5294C>A)
c.3732G>T (p.Thr1244=)
c.1159G>T
c.989G>T
n.212G>T
c.3795G>T (p.Thr1265=)
c.3741G>T (p.Thr1247=)
c.3387G>T (p.Thr1129=)
c.2076G>T (p.Thr692=)
1g.11787481G>ACA338469327C1orf167,MTHFRc.3175G>A (p.Ala1059Thr)
c.3661G>A (p.Ala1221Thr)
c.*3199C>T (n.*3199C>T)
c.1811G>A
c.5293C>T (n.5293C>T)
c.3733G>A (p.Ala1245Thr)
c.1160G>A
c.990G>A
n.213G>A
c.3796G>A (p.Ala1266Thr)
c.3742G>A (p.Ala1248Thr)
c.3388G>A (p.Ala1130Thr)
c.2077G>A (p.Ala693Thr)
1g.11787481G>CCA338469328C1orf167,MTHFRc.3175G>C (p.Ala1059Pro)
c.3661G>C (p.Ala1221Pro)
c.*3199C>G (n.*3199C>G)
c.1811G>C
c.5293C>G (n.5293C>G)
c.3733G>C (p.Ala1245Pro)
c.1160G>C
c.990G>C
n.213G>C
c.3796G>C (p.Ala1266Pro)
c.3742G>C (p.Ala1248Pro)
c.3388G>C (p.Ala1130Pro)
c.2077G>C (p.Ala693Pro)
1g.11787481G=CA1153785920C1orf167,MTHFRc.3175G= (p.Ala1059=)
c.3661G= (p.Ala1221=)
c.*3199C= (n.*3199C=)
c.1811G=
c.5293C= (n.5293C=)
c.3733G= (p.Ala1245=)
c.1160G=
c.990G=
n.213G=
c.3796G= (p.Ala1266=)
c.3742G= (p.Ala1248=)
c.3388G= (p.Ala1130=)
c.2077G= (p.Ala693=)
1g.11787481G>TCA338469329C1orf167,MTHFRc.3175G>T (p.Ala1059Ser)
c.3661G>T (p.Ala1221Ser)
c.*3199C>A (n.*3199C>A)
c.1811G>T
c.5293C>A (n.5293C>A)
c.3733G>T (p.Ala1245Ser)
c.1160G>T
c.990G>T
n.213G>T
c.3796G>T (p.Ala1266Ser)
c.3742G>T (p.Ala1248Ser)
c.3388G>T (p.Ala1130Ser)
c.2077G>T (p.Ala693Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.11787482C>ACA338469330C1orf167,MTHFRc.3176C>A (p.Ala1059Asp)
c.3662C>A (p.Ala1221Asp)
c.*3198G>T (n.*3198G>T)
c.1812C>A
c.5292G>T (n.5292G>T)
c.3734C>A (p.Ala1245Asp)
c.1161C>A
c.991C>A
n.214C>A
c.3797C>A (p.Ala1266Asp)
c.3743C>A (p.Ala1248Asp)
c.3389C>A (p.Ala1130Asp)
c.2078C>A (p.Ala693Asp)
 gnomAD v4
1g.11787482C=CA1153785923C1orf167,MTHFRc.3176C= (p.Ala1059=)
c.3662C= (p.Ala1221=)
c.*3198G= (n.*3198G=)
c.1812C=
c.5292G= (n.5292G=)
c.3734C= (p.Ala1245=)
c.1161C=
c.991C=
n.214C=
c.3797C= (p.Ala1266=)
c.3743C= (p.Ala1248=)
c.3389C= (p.Ala1130=)
c.2078C= (p.Ala693=)
1g.11787482C>GCA338469331C1orf167,MTHFRc.3176C>G (p.Ala1059Gly)
c.3662C>G (p.Ala1221Gly)
c.*3198G>C (n.*3198G>C)
c.1812C>G
c.5292G>C (n.5292G>C)
c.3734C>G (p.Ala1245Gly)
c.1161C>G
c.991C>G
n.214C>G
c.3797C>G (p.Ala1266Gly)
c.3743C>G (p.Ala1248Gly)
c.3389C>G (p.Ala1130Gly)
c.2078C>G (p.Ala693Gly)
1g.11787482C>TCA338469332C1orf167,MTHFRc.3176C>T (p.Ala1059Val)
c.3662C>T (p.Ala1221Val)
c.*3198G>A (n.*3198G>A)
c.1812C>T
c.5292G>A (n.5292G>A)
c.3734C>T (p.Ala1245Val)
c.1161C>T
c.991C>T
n.214C>T
c.3797C>T (p.Ala1266Val)
c.3743C>T (p.Ala1248Val)
c.3389C>T (p.Ala1130Val)
c.2078C>T (p.Ala693Val)
 dbSNP
1g.11787483C>ACA416118856C1orf167,MTHFRc.3177C>A (p.Ala1059=)
c.3663C>A (p.Ala1221=)
c.*3197G>T (n.*3197G>T)
c.1813C>A
c.5291G>T (n.5291G>T)
c.3735C>A (p.Ala1245=)
c.1162C>A
c.992C>A
n.215C>A
c.3798C>A (p.Ala1266=)
c.3744C>A (p.Ala1248=)
c.3390C>A (p.Ala1130=)
c.2079C>A (p.Ala693=)
1g.11787483C=CA1153785924C1orf167,MTHFRc.3177C= (p.Ala1059=)
c.3663C= (p.Ala1221=)
c.*3197G= (n.*3197G=)
c.1813C=
c.5291G= (n.5291G=)
c.3735C= (p.Ala1245=)
c.1162C=
c.992C=
n.215C=
c.3798C= (p.Ala1266=)
c.3744C= (p.Ala1248=)
c.3390C= (p.Ala1130=)
c.2079C= (p.Ala693=)
1g.11787483C>GCA416118857C1orf167,MTHFRc.3177C>G (p.Ala1059=)
c.3663C>G (p.Ala1221=)
c.*3197G>C (n.*3197G>C)
c.1813C>G
c.5291G>C (n.5291G>C)
c.3735C>G (p.Ala1245=)
c.1162C>G
c.992C>G
n.215C>G
c.3798C>G (p.Ala1266=)
c.3744C>G (p.Ala1248=)
c.3390C>G (p.Ala1130=)
c.2079C>G (p.Ala693=)
 dbSNP gnomAD v2 gnomAD v4
1g.11787483C>TCA416118858C1orf167,MTHFRc.3177C>T (p.Ala1059=)
c.3663C>T (p.Ala1221=)
c.*3197G>A (n.*3197G>A)
c.1813C>T
c.5291G>A (n.5291G>A)
c.3735C>T (p.Ala1245=)
c.1162C>T
c.992C>T
n.215C>T
c.3798C>T (p.Ala1266=)
c.3744C>T (p.Ala1248=)
c.3390C>T (p.Ala1130=)
c.2079C>T (p.Ala693=)
 dbSNP gnomAD v2 gnomAD v4
1g.11787484T>ACA338469333C1orf167,MTHFRc.3178T>A (p.Trp1060Arg)
c.3664T>A (p.Trp1222Arg)
c.*3196A>T (n.*3196A>T)
c.1814T>A
c.5290A>T (n.5290A>T)
c.3736T>A (p.Trp1246Arg)
c.1163T>A
c.993T>A
n.216T>A
c.3799T>A (p.Trp1267Arg)
c.3745T>A (p.Trp1249Arg)
c.3391T>A (p.Trp1131Arg)
c.2080T>A (p.Trp694Arg)
1g.11787484T>CCA338469334C1orf167,MTHFRc.3178T>C (p.Trp1060Arg)
c.3664T>C (p.Trp1222Arg)
c.*3196A>G (n.*3196A>G)
c.1814T>C
c.5290A>G (n.5290A>G)
c.3736T>C (p.Trp1246Arg)
c.1163T>C
c.993T>C
n.216T>C
c.3799T>C (p.Trp1267Arg)
c.3745T>C (p.Trp1249Arg)
c.3391T>C (p.Trp1131Arg)
c.2080T>C (p.Trp694Arg)
 dbSNP
1g.11787484T>GCA338469336C1orf167,MTHFRc.3178T>G (p.Trp1060Gly)
c.3664T>G (p.Trp1222Gly)
c.*3196A>C (n.*3196A>C)
c.1814T>G
c.5290A>C (n.5290A>C)
c.3736T>G (p.Trp1246Gly)
c.1163T>G
c.993T>G
n.216T>G
c.3799T>G (p.Trp1267Gly)
c.3745T>G (p.Trp1249Gly)
c.3391T>G (p.Trp1131Gly)
c.2080T>G (p.Trp694Gly)
1g.11787484T=CA1153785927C1orf167,MTHFRc.3178T= (p.Trp1060=)
c.3664T= (p.Trp1222=)
c.*3196A= (n.*3196A=)
c.1814T=
c.5290A= (n.5290A=)
c.3736T= (p.Trp1246=)
c.1163T=
c.993T=
n.216T=
c.3799T= (p.Trp1267=)
c.3745T= (p.Trp1249=)
c.3391T= (p.Trp1131=)
c.2080T= (p.Trp694=)
1g.11787485G>ACA595046C1orf167,MTHFRc.3179G>A (p.Trp1060Ter)
c.3665G>A (p.Trp1222Ter)
c.*3195C>T (n.*3195C>T)
c.1815G>A
c.5289C>T (n.5289C>T)
c.3737G>A (p.Trp1246Ter)
c.1164G>A
c.994G>A
n.217G>A
c.3800G>A (p.Trp1267Ter)
c.3746G>A (p.Trp1249Ter)
c.3392G>A (p.Trp1131Ter)
c.2081G>A (p.Trp694Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11787485G>CCA338469342C1orf167,MTHFRc.3179G>C (p.Trp1060Ser)
c.3665G>C (p.Trp1222Ser)
c.*3195C>G (n.*3195C>G)
c.1815G>C
c.5289C>G (n.5289C>G)
c.3737G>C (p.Trp1246Ser)
c.1164G>C
c.994G>C
n.217G>C
c.3800G>C (p.Trp1267Ser)
c.3746G>C (p.Trp1249Ser)
c.3392G>C (p.Trp1131Ser)
c.2081G>C (p.Trp694Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.11787485G=CA1153785932C1orf167,MTHFRc.3179G= (p.Trp1060=)
c.3665G= (p.Trp1222=)
c.*3195C= (n.*3195C=)
c.1815G=
c.5289C= (n.5289C=)
c.3737G= (p.Trp1246=)
c.1164G=
c.994G=
n.217G=
c.3800G= (p.Trp1267=)
c.3746G= (p.Trp1249=)
c.3392G= (p.Trp1131=)
c.2081G= (p.Trp694=)
1g.11787485G>TCA338469340C1orf167,MTHFRc.3179G>T (p.Trp1060Leu)
c.3665G>T (p.Trp1222Leu)
c.*3195C>A (n.*3195C>A)
c.1815G>T
c.5289C>A (n.5289C>A)
c.3737G>T (p.Trp1246Leu)
c.1164G>T
c.994G>T
n.217G>T
c.3800G>T (p.Trp1267Leu)
c.3746G>T (p.Trp1249Leu)
c.3392G>T (p.Trp1131Leu)
c.2081G>T (p.Trp694Leu)
1g.11787486G>ACA17995582C1orf167,MTHFRc.3180G>A (p.Trp1060Ter)
c.3666G>A (p.Trp1222Ter)
c.*3194C>T (n.*3194C>T)
c.1816G>A
c.5288C>T (n.5288C>T)
c.3738G>A (p.Trp1246Ter)
c.1165G>A
c.995G>A
n.218G>A
c.3801G>A (p.Trp1267Ter)
c.3747G>A (p.Trp1249Ter)
c.3393G>A (p.Trp1131Ter)
c.2082G>A (p.Trp694Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11787486G>CCA338469345C1orf167,MTHFRc.3180G>C (p.Trp1060Cys)
c.3666G>C (p.Trp1222Cys)
c.*3194C>G (n.*3194C>G)
c.1816G>C
c.5288C>G (n.5288C>G)
c.3738G>C (p.Trp1246Cys)
c.1165G>C
c.995G>C
n.218G>C
c.3801G>C (p.Trp1267Cys)
c.3747G>C (p.Trp1249Cys)
c.3393G>C (p.Trp1131Cys)
c.2082G>C (p.Trp694Cys)
1g.11787486G=CA1153785934C1orf167,MTHFRc.3180G= (p.Trp1060=)
c.3666G= (p.Trp1222=)
c.*3194C= (n.*3194C=)
c.1816G=
c.5288C= (n.5288C=)
c.3738G= (p.Trp1246=)
c.1165G=
c.995G=
n.218G=
c.3801G= (p.Trp1267=)
c.3747G= (p.Trp1249=)
c.3393G= (p.Trp1131=)
c.2082G= (p.Trp694=)
1g.11787486G>TCA338469347C1orf167,MTHFRc.3180G>T (p.Trp1060Cys)
c.3666G>T (p.Trp1222Cys)
c.*3194C>A (n.*3194C>A)
c.1816G>T
c.5288C>A (n.5288C>A)
c.3738G>T (p.Trp1246Cys)
c.1165G>T
c.995G>T
n.218G>T
c.3801G>T (p.Trp1267Cys)
c.3747G>T (p.Trp1249Cys)
c.3393G>T (p.Trp1131Cys)
c.2082G>T (p.Trp694Cys)
1g.11787487G>ACA338469349C1orf167,MTHFRc.3181G>A (p.Ala1061Thr)
c.3667G>A (p.Ala1223Thr)
c.*3193C>T (n.*3193C>T)
c.1817G>A
c.5287C>T (n.5287C>T)
c.3739G>A (p.Ala1247Thr)
c.1166G>A
c.996G>A
n.219G>A
c.3802G>A (p.Ala1268Thr)
c.3748G>A (p.Ala1250Thr)
c.3394G>A (p.Ala1132Thr)
c.2083G>A (p.Ala695Thr)
 dbSNP gnomAD v2
1g.11787487G>CCA338469352C1orf167,MTHFRc.3181G>C (p.Ala1061Pro)
c.3667G>C (p.Ala1223Pro)
c.*3193C>G (n.*3193C>G)
c.1817G>C
c.5287C>G (n.5287C>G)
c.3739G>C (p.Ala1247Pro)
c.1166G>C
c.996G>C
n.219G>C
c.3802G>C (p.Ala1268Pro)
c.3748G>C (p.Ala1250Pro)
c.3394G>C (p.Ala1132Pro)
c.2083G>C (p.Ala695Pro)
1g.11787487G=CA1153785935C1orf167,MTHFRc.3181G= (p.Ala1061=)
c.3667G= (p.Ala1223=)
c.*3193C= (n.*3193C=)
c.1817G=
c.5287C= (n.5287C=)
c.3739G= (p.Ala1247=)
c.1166G=
c.996G=
n.219G=
c.3802G= (p.Ala1268=)
c.3748G= (p.Ala1250=)
c.3394G= (p.Ala1132=)
c.2083G= (p.Ala695=)
1g.11787487G>TCA338469354C1orf167,MTHFRc.3181G>T (p.Ala1061Ser)
c.3667G>T (p.Ala1223Ser)
c.*3193C>A (n.*3193C>A)
c.1817G>T
c.5287C>A (n.5287C>A)
c.3739G>T (p.Ala1247Ser)
c.1166G>T
c.996G>T
n.219G>T
c.3802G>T (p.Ala1268Ser)
c.3748G>T (p.Ala1250Ser)
c.3394G>T (p.Ala1132Ser)
c.2083G>T (p.Ala695Ser)
 gnomAD v4
1g.11787488C>ACA338469357C1orf167,MTHFRc.3182C>A (p.Ala1061Asp)
c.3668C>A (p.Ala1223Asp)
c.*3192G>T (n.*3192G>T)
c.1818C>A
c.5286G>T (n.5286G>T)
c.3740C>A (p.Ala1247Asp)
c.1167C>A
c.997C>A
n.220C>A
c.3803C>A (p.Ala1268Asp)
c.3749C>A (p.Ala1250Asp)
c.3395C>A (p.Ala1132Asp)
c.2084C>A (p.Ala695Asp)
 gnomAD v4
1g.11787488C>GCA338469358C1orf167,MTHFRc.3182C>G (p.Ala1061Gly)
c.3668C>G (p.Ala1223Gly)
c.*3192G>C (n.*3192G>C)
c.1818C>G
c.5286G>C (n.5286G>C)
c.3740C>G (p.Ala1247Gly)
c.1167C>G
c.997C>G
n.220C>G
c.3803C>G (p.Ala1268Gly)
c.3749C>G (p.Ala1250Gly)
c.3395C>G (p.Ala1132Gly)
c.2084C>G (p.Ala695Gly)
1g.11787488C>TCA338469360C1orf167,MTHFRc.3182C>T (p.Ala1061Val)
c.3668C>T (p.Ala1223Val)
c.*3192G>A (n.*3192G>A)
c.1818C>T
c.5286G>A (n.5286G>A)
c.3740C>T (p.Ala1247Val)
c.1167C>T
c.997C>T
n.220C>T
c.3803C>T (p.Ala1268Val)
c.3749C>T (p.Ala1250Val)
c.3395C>T (p.Ala1132Val)
c.2084C>T (p.Ala695Val)
1g.11787489_11787490delCA2643294455C1orf167,MTHFRc.3183_3184del (p.Gln1062GlufsTer22)
c.3669_3670del (p.Gln1224GlufsTer22)
c.*3191_*3192del (n.*3191_*3192del)
c.1819_1820del
c.5285_5286del (n.5285_5286del)
c.3741_3742del (p.Gln1248GlufsTer22)
c.1168_1169del
c.998_999del
n.221_222del
c.3804_3805del (p.Gln1269GlufsTer22)
c.3750_3751del (p.Gln1251GlufsTer22)
c.3396_3397del (p.Gln1133GlufsTer22)
c.2085_2086del (p.Gln696GlufsTer22)
 gnomAD v4
1g.11787489T>ACA416118859C1orf167,MTHFRc.3183T>A (p.Ala1061=)
c.3669T>A (p.Ala1223=)
c.*3191A>T (n.*3191A>T)
c.1819T>A
c.5285A>T (n.5285A>T)
c.3741T>A (p.Ala1247=)
c.1168T>A
c.998T>A
n.221T>A
c.3804T>A (p.Ala1268=)
c.3750T>A (p.Ala1250=)
c.3396T>A (p.Ala1132=)
c.2085T>A (p.Ala695=)
1g.11787489T>CCA416118860C1orf167,MTHFRc.3183T>C (p.Ala1061=)
c.3669T>C (p.Ala1223=)
c.*3191A>G (n.*3191A>G)
c.1819T>C
c.5285A>G (n.5285A>G)
c.3741T>C (p.Ala1247=)
c.1168T>C
c.998T>C
n.221T>C
c.3804T>C (p.Ala1268=)
c.3750T>C (p.Ala1250=)
c.3396T>C (p.Ala1132=)
c.2085T>C (p.Ala695=)
1g.11787489T>GCA416118861C1orf167,MTHFRc.3183T>G (p.Ala1061=)
c.3669T>G (p.Ala1223=)
c.*3191A>C (n.*3191A>C)
c.1819T>G
c.5285A>C (n.5285A>C)
c.3741T>G (p.Ala1247=)
c.1168T>G
c.998T>G
n.221T>G
c.3804T>G (p.Ala1268=)
c.3750T>G (p.Ala1250=)
c.3396T>G (p.Ala1132=)
c.2085T>G (p.Ala695=)
 dbSNP
1g.11787489T=CA1153785936C1orf167,MTHFRc.3183T= (p.Ala1061=)
c.3669T= (p.Ala1223=)
c.*3191A= (n.*3191A=)
c.1819T=
c.5285A= (n.5285A=)
c.3741T= (p.Ala1247=)
c.1168T=
c.998T=
n.221T=
c.3804T= (p.Ala1268=)
c.3750T= (p.Ala1250=)
c.3396T= (p.Ala1132=)
c.2085T= (p.Ala695=)
1g.11787490C>ACA338469362C1orf167,MTHFRc.3184C>A (p.Gln1062Lys)
c.3670C>A (p.Gln1224Lys)
c.*3190G>T (n.*3190G>T)
c.1820C>A
c.5284G>T (n.5284G>T)
c.3742C>A (p.Gln1248Lys)
c.1169C>A
c.999C>A
n.222C>A
c.3805C>A (p.Gln1269Lys)
c.3751C>A (p.Gln1251Lys)
c.3397C>A (p.Gln1133Lys)
c.2086C>A (p.Gln696Lys)
1g.11787490C>GCA338469364C1orf167,MTHFRc.3184C>G (p.Gln1062Glu)
c.3670C>G (p.Gln1224Glu)
c.*3190G>C (n.*3190G>C)
c.1820C>G
c.5284G>C (n.5284G>C)
c.3742C>G (p.Gln1248Glu)
c.1169C>G
c.999C>G
n.222C>G
c.3805C>G (p.Gln1269Glu)
c.3751C>G (p.Gln1251Glu)
c.3397C>G (p.Gln1133Glu)
c.2086C>G (p.Gln696Glu)
1g.11787490C>TCA338469366C1orf167,MTHFRc.3184C>T (p.Gln1062Ter)
c.3670C>T (p.Gln1224Ter)
c.*3190G>A (n.*3190G>A)
c.1820C>T
c.5284G>A (n.5284G>A)
c.3742C>T (p.Gln1248Ter)
c.1169C>T
c.999C>T
n.222C>T
c.3805C>T (p.Gln1269Ter)
c.3751C>T (p.Gln1251Ter)
c.3397C>T (p.Gln1133Ter)
c.2086C>T (p.Gln696Ter)
1g.11787491A=CA1153785937C1orf167,MTHFRc.3185A= (p.Gln1062=)
c.3671A= (p.Gln1224=)
c.*3189T= (n.*3189T=)
c.1821A=
c.5283T= (n.5283T=)
c.3743A= (p.Gln1248=)
c.1170A=
c.1000A=
n.223A=
c.3806A= (p.Gln1269=)
c.3752A= (p.Gln1251=)
c.3398A= (p.Gln1133=)
c.2087A= (p.Gln696=)
1g.11787491A>CCA10607824C1orf167,MTHFRc.3185A>C (p.Gln1062Pro)
c.3671A>C (p.Gln1224Pro)
c.*3189T>G (n.*3189T>G)
c.1821A>C
c.5283T>G (n.5283T>G)
c.3743A>C (p.Gln1248Pro)
c.1170A>C
c.1000A>C
n.223A>C
c.3806A>C (p.Gln1269Pro)
c.3752A>C (p.Gln1251Pro)
c.3398A>C (p.Gln1133Pro)
c.2087A>C (p.Gln696Pro)
 dbSNP gnomAD v4
1g.11787491A>GCA338469371C1orf167,MTHFRc.3185A>G (p.Gln1062Arg)
c.3671A>G (p.Gln1224Arg)
c.*3189T>C (n.*3189T>C)
c.1821A>G
c.5283T>C (n.5283T>C)
c.3743A>G (p.Gln1248Arg)
c.1170A>G
c.1000A>G
n.223A>G
c.3806A>G (p.Gln1269Arg)
c.3752A>G (p.Gln1251Arg)
c.3398A>G (p.Gln1133Arg)
c.2087A>G (p.Gln696Arg)
1g.11787491A>TCA338469369C1orf167,MTHFRc.3185A>T (p.Gln1062Leu)
c.3671A>T (p.Gln1224Leu)
c.*3189T>A (n.*3189T>A)
c.1821A>T
c.5283T>A (n.5283T>A)
c.3743A>T (p.Gln1248Leu)
c.1170A>T
c.1000A>T
n.223A>T
c.3806A>T (p.Gln1269Leu)
c.3752A>T (p.Gln1251Leu)
c.3398A>T (p.Gln1133Leu)
c.2087A>T (p.Gln696Leu)
1g.11787493_11787494delCA2643294456C1orf167,MTHFRc.3187_3187+1del
c.3673_3673+1del
c.*3188_*3189del (n.*3188_*3189del)
c.1823_1823+1del
c.5282_5283del (n.5282_5283del)
c.3745_3745+1del
c.1172_1172+1del
c.1002_1002+1del
n.225_226del
c.3808_3808+1del
c.3754_3754+1del
c.3400_3400+1del
c.2089_2089+1del
 gnomAD v4
1g.11787491_11787495delinsAGAGTCA1153785938C1orf167,MTHFRc.3185_3187+2delinsAGAGT
c.3671_3673+2delinsAGAGT
c.*3185_*3189delinsACTCT (n.*3185_*3189delinsACTCT)
c.1821_1823+2delinsAGAGT
c.5279_5283delinsACTCT (n.5279_5283delinsACTCT)
c.3743_3745+2delinsAGAGT
c.1170_1172+2delinsAGAGT
c.1000_1002+2delinsAGAGT
n.223_227delinsAGAGT
c.3806_3808+2delinsAGAGT
c.3752_3754+2delinsAGAGT
c.3398_3400+2delinsAGAGT
c.2087_2089+2delinsAGAGT
1g.11787492G>ACA416118862C1orf167,MTHFRc.3186G>A (p.Gln1062=)
c.3672G>A (p.Gln1224=)
c.*3188C>T (n.*3188C>T)
c.1822G>A
c.5282C>T (n.5282C>T)
c.3744G>A (p.Gln1248=)
c.1171G>A
c.1001G>A
n.224G>A
c.3807G>A (p.Gln1269=)
c.3753G>A (p.Gln1251=)
c.3399G>A (p.Gln1133=)
c.2088G>A (p.Gln696=)
 dbSNP
1g.11787492G>CCA338469375C1orf167,MTHFRc.3186G>C (p.Gln1062His)
c.3672G>C (p.Gln1224His)
c.*3188C>G (n.*3188C>G)
c.1822G>C
c.5282C>G (n.5282C>G)
c.3744G>C (p.Gln1248His)
c.1171G>C
c.1001G>C
n.224G>C
c.3807G>C (p.Gln1269His)
c.3753G>C (p.Gln1251His)
c.3399G>C (p.Gln1133His)
c.2088G>C (p.Gln696His)
1g.11787492G=CA1153785940C1orf167,MTHFRc.3186G= (p.Gln1062=)
c.3672G= (p.Gln1224=)
c.*3188C= (n.*3188C=)
c.1822G=
c.5282C= (n.5282C=)
c.3744G= (p.Gln1248=)
c.1171G=
c.1001G=
n.224G=
c.3807G= (p.Gln1269=)
c.3753G= (p.Gln1251=)
c.3399G= (p.Gln1133=)
c.2088G= (p.Gln696=)
1g.11787492G>TCA338469376C1orf167,MTHFRc.3186G>T (p.Gln1062His)
c.3672G>T (p.Gln1224His)
c.*3188C>A (n.*3188C>A)
c.1822G>T
c.5282C>A (n.5282C>A)
c.3744G>T (p.Gln1248His)
c.1171G>T
c.1001G>T
n.224G>T
c.3807G>T (p.Gln1269His)
c.3753G>T (p.Gln1251His)
c.3399G>T (p.Gln1133His)
c.2088G>T (p.Gln696His)
1g.11787492_11787495delCA1153785939C1orf167,MTHFRc.3186_3187+2del
c.3672_3673+2del
c.*3185_*3188del (n.*3185_*3188del)
c.1822_1823+2del
c.5279_5282del (n.5279_5282del)
c.3744_3745+2del
c.1171_1172+2del
c.1001_1002+2del
n.224_227del
c.3807_3808+2del
c.3753_3754+2del
c.3399_3400+2del
c.2088_2089+2del
 dbSNP
1g.11787493A>CCA416118863C1orf167,MTHFRc.3187A>C (p.Arg1063=)
c.3673A>C (p.Arg1225=)
c.*3187T>G (n.*3187T>G)
c.1823A>C
c.5281T>G (n.5281T>G)
c.3745A>C (p.Arg1249=)
c.1172A>C
c.1002A>C
n.225A>C
c.3808A>C (p.Arg1270=)
c.3754A>C (p.Arg1252=)
c.3400A>C (p.Arg1134=)
c.2089A>C (p.Arg697=)
1g.11787493A>GCA338469379C1orf167,MTHFRc.3187A>G (p.Arg1063Gly)
c.3673A>G (p.Arg1225Gly)
c.*3187T>C (n.*3187T>C)
c.1823A>G
c.5281T>C (n.5281T>C)
c.3745A>G (p.Arg1249Gly)
c.1172A>G
c.1002A>G
n.225A>G
c.3808A>G (p.Arg1270Gly)
c.3754A>G (p.Arg1252Gly)
c.3400A>G (p.Arg1134Gly)
c.2089A>G (p.Arg697Gly)
 gnomAD v4
1g.11787493A>TCA338469380C1orf167,MTHFRc.3187A>T (p.Arg1063Trp)
c.3673A>T (p.Arg1225Trp)
c.*3187T>A (n.*3187T>A)
c.1823A>T
c.5281T>A (n.5281T>A)
c.3745A>T (p.Arg1249Trp)
c.1172A>T
c.1002A>T
n.225A>T
c.3808A>T (p.Arg1270Trp)
c.3754A>T (p.Arg1252Trp)
c.3400A>T (p.Arg1134Trp)
c.2089A>T (p.Arg697Trp)
1g.11787494G>ACA338469383C1orf167,MTHFRc.3187+1G>A (n.3187+1G>A)
c.3673+1G>A (n.3673+1G>A)
c.*3186C>T (n.*3186C>T)
c.1823+1G>A
c.5280C>T (n.5280C>T)
c.3745+1G>A (n.3745+1G>A)
c.1172+1G>A
c.1002+1G>A
n.226G>A
c.3808+1G>A (n.3808+1G>A)
c.3754+1G>A (n.3754+1G>A)
c.3400+1G>A (n.3400+1G>A)
c.2089+1G>A (n.2089+1G>A)
 gnomAD v4
1g.11787494G>CCA338469385C1orf167,MTHFRc.3187+1G>C (n.3187+1G>C)
c.3673+1G>C (n.3673+1G>C)
c.*3186C>G (n.*3186C>G)
c.1823+1G>C
c.5280C>G (n.5280C>G)
c.3745+1G>C (n.3745+1G>C)
c.1172+1G>C
c.1002+1G>C
n.226G>C
c.3808+1G>C (n.3808+1G>C)
c.3754+1G>C (n.3754+1G>C)
c.3400+1G>C (n.3400+1G>C)
c.2089+1G>C (n.2089+1G>C)
1g.11787494G>TCA338469387C1orf167,MTHFRc.3187+1G>T (n.3187+1G>T)
c.3673+1G>T (n.3673+1G>T)
c.*3186C>A (n.*3186C>A)
c.1823+1G>T
c.5280C>A (n.5280C>A)
c.3745+1G>T (n.3745+1G>T)
c.1172+1G>T
c.1002+1G>T
n.226G>T
c.3808+1G>T (n.3808+1G>T)
c.3754+1G>T (n.3754+1G>T)
c.3400+1G>T (n.3400+1G>T)
c.2089+1G>T (n.2089+1G>T)
1g.11787495T>ACA338469390C1orf167,MTHFRc.3187+2T>A (n.3187+2T>A)
c.3673+2T>A (n.3673+2T>A)
c.*3185A>T (n.*3185A>T)
c.1823+2T>A
c.5279A>T (n.5279A>T)
c.3745+2T>A (n.3745+2T>A)
c.1172+2T>A
c.1002+2T>A
n.227T>A
c.3808+2T>A (n.3808+2T>A)
c.3754+2T>A (n.3754+2T>A)
c.3400+2T>A (n.3400+2T>A)
c.2089+2T>A (n.2089+2T>A)
1g.11787495T>CCA338469392C1orf167,MTHFRc.3187+2T>C (n.3187+2T>C)
c.3673+2T>C (n.3673+2T>C)
c.*3185A>G (n.*3185A>G)
c.1823+2T>C
c.5279A>G (n.5279A>G)
c.3745+2T>C (n.3745+2T>C)
c.1172+2T>C
c.1002+2T>C
n.227T>C
c.3808+2T>C (n.3808+2T>C)
c.3754+2T>C (n.3754+2T>C)
c.3400+2T>C (n.3400+2T>C)
c.2089+2T>C (n.2089+2T>C)
1g.11787495T>GCA338469394C1orf167,MTHFRc.3187+2T>G (n.3187+2T>G)
c.3673+2T>G (n.3673+2T>G)
c.*3185A>C (n.*3185A>C)
c.1823+2T>G
c.5279A>C (n.5279A>C)
c.3745+2T>G (n.3745+2T>G)
c.1172+2T>G
c.1002+2T>G
n.227T>G
c.3808+2T>G (n.3808+2T>G)
c.3754+2T>G (n.3754+2T>G)
c.3400+2T>G (n.3400+2T>G)
c.2089+2T>G (n.2089+2T>G)
1g.11787496A=CA1153785941C1orf167,MTHFRc.3187+3A= (n.3187+3A=)
c.3673+3A= (n.3673+3A=)
c.*3184T= (n.*3184T=)
c.1823+3A=
c.5278T= (n.5278T=)
c.3745+3A= (n.3745+3A=)
c.1172+3A=
c.1002+3A=
n.228A=
c.3808+3A= (n.3808+3A=)
c.3754+3A= (n.3754+3A=)
c.3400+3A= (n.3400+3A=)
c.2089+3A= (n.2089+3A=)
1g.11787496A>TCA521191979C1orf167,MTHFRc.3187+3A>T (n.3187+3A>T)
c.3673+3A>T (n.3673+3A>T)
c.*3184T>A (n.*3184T>A)
c.1823+3A>T
c.5278T>A (n.5278T>A)
c.3745+3A>T (n.3745+3A>T)
c.1172+3A>T
c.1002+3A>T
n.228A>T
c.3808+3A>T (n.3808+3A>T)
c.3754+3A>T (n.3754+3A>T)
c.3400+3A>T (n.3400+3A>T)
c.2089+3A>T (n.2089+3A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11787499_11787501delCA2643294457C1orf167,MTHFRc.3187+6_3187+8del (n.3187+6_3187+8del)
c.3673+6_3673+8del (n.3673+6_3673+8del)
c.*3181_*3183del (n.*3181_*3183del)
c.1823+6_1823+8del
c.5275_5277del (n.5275_5277del)
c.3745+6_3745+8del (n.3745+6_3745+8del)
c.1172+6_1172+8del
c.1002+6_1002+8del
n.231_233del
c.3808+6_3808+8del (n.3808+6_3808+8del)
c.3754+6_3754+8del (n.3754+6_3754+8del)
c.3400+6_3400+8del (n.3400+6_3400+8del)
c.2089+6_2089+8del (n.2089+6_2089+8del)
 gnomAD v4
1g.11787498G>TCA2643294458C1orf167,MTHFRc.3187+5G>T (n.3187+5G>T)
c.3673+5G>T (n.3673+5G>T)
c.*3182C>A (n.*3182C>A)
c.1823+5G>T
c.5276C>A (n.5276C>A)
c.3745+5G>T (n.3745+5G>T)
c.1172+5G>T
c.1002+5G>T
n.230G>T
c.3808+5G>T (n.3808+5G>T)
c.3754+5G>T (n.3754+5G>T)
c.3400+5G>T (n.3400+5G>T)
c.2089+5G>T (n.2089+5G>T)
 gnomAD v4
1g.11787499G>ACA2643294459C1orf167,MTHFRc.3187+6G>A (n.3187+6G>A)
c.3673+6G>A (n.3673+6G>A)
c.*3181C>T (n.*3181C>T)
c.1823+6G>A
c.5275C>T (n.5275C>T)
c.3745+6G>A (n.3745+6G>A)
c.1172+6G>A
c.1002+6G>A
n.231G>A
c.3808+6G>A (n.3808+6G>A)
c.3754+6G>A (n.3754+6G>A)
c.3400+6G>A (n.3400+6G>A)
c.2089+6G>A (n.2089+6G>A)
 gnomAD v4
1g.11787500A=CA1153785942C1orf167,MTHFRc.3187+7A= (n.3187+7A=)
c.3673+7A= (n.3673+7A=)
c.*3180T= (n.*3180T=)
c.1823+7A=
c.5274T= (n.5274T=)
c.3745+7A= (n.3745+7A=)
c.1172+7A=
c.1002+7A=
n.232A=
c.3808+7A= (n.3808+7A=)
c.3754+7A= (n.3754+7A=)
c.3400+7A= (n.3400+7A=)
c.2089+7A= (n.2089+7A=)
1g.11787500A>GCA1153785943C1orf167,MTHFRc.3187+7A>G (n.3187+7A>G)
c.3673+7A>G (n.3673+7A>G)
c.*3180T>C (n.*3180T>C)
c.1823+7A>G
c.5274T>C (n.5274T>C)
c.3745+7A>G (n.3745+7A>G)
c.1172+7A>G
c.1002+7A>G
n.232A>G
c.3808+7A>G (n.3808+7A>G)
c.3754+7A>G (n.3754+7A>G)
c.3400+7A>G (n.3400+7A>G)
c.2089+7A>G (n.2089+7A>G)
 dbSNP gnomAD v4
1g.11787501G>TCA2574214198C1orf167,MTHFRc.3187+8G>T (n.3187+8G>T)
c.3673+8G>T (n.3673+8G>T)
c.*3179C>A (n.*3179C>A)
c.1823+8G>T
c.5273C>A (n.5273C>A)
c.3745+8G>T (n.3745+8G>T)
c.1172+8G>T
c.1002+8G>T
n.233G>T
c.3808+8G>T (n.3808+8G>T)
c.3754+8G>T (n.3754+8G>T)
c.3400+8G>T (n.3400+8G>T)
c.2089+8G>T (n.2089+8G>T)
1g.11787503C>ACA595047C1orf167,MTHFRc.3187+10C>A (n.3187+10C>A)
c.3673+10C>A (n.3673+10C>A)
c.*3177G>T (n.*3177G>T)
c.1823+10C>A
c.5271G>T (n.5271G>T)
c.3745+10C>A (n.3745+10C>A)
c.1172+10C>A
c.1002+10C>A
n.235C>A
c.3808+10C>A (n.3808+10C>A)
c.3754+10C>A (n.3754+10C>A)
c.3400+10C>A (n.3400+10C>A)
c.2089+10C>A (n.2089+10C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11787503C=CA1153785944C1orf167,MTHFRc.3187+10C= (n.3187+10C=)
c.3673+10C= (n.3673+10C=)
c.*3177G= (n.*3177G=)
c.1823+10C=
c.5271G= (n.5271G=)
c.3745+10C= (n.3745+10C=)
c.1172+10C=
c.1002+10C=
n.235C=
c.3808+10C= (n.3808+10C=)
c.3754+10C= (n.3754+10C=)
c.3400+10C= (n.3400+10C=)
c.2089+10C= (n.2089+10C=)
1g.11787504C>ACA1153785946C1orf167,MTHFRc.3187+11C>A (n.3187+11C>A)
c.3673+11C>A (n.3673+11C>A)
c.*3176G>T (n.*3176G>T)
c.1823+11C>A
c.5270G>T (n.5270G>T)
c.3745+11C>A (n.3745+11C>A)
c.1172+11C>A
c.1002+11C>A
n.236C>A
c.3808+11C>A (n.3808+11C>A)
c.3754+11C>A (n.3754+11C>A)
c.3400+11C>A (n.3400+11C>A)
c.2089+11C>A (n.2089+11C>A)
 dbSNP gnomAD v4
1g.11787504C=CA1153785945C1orf167,MTHFRc.3187+11C= (n.3187+11C=)
c.3673+11C= (n.3673+11C=)
c.*3176G= (n.*3176G=)
c.1823+11C=
c.5270G= (n.5270G=)
c.3745+11C= (n.3745+11C=)
c.1172+11C=
c.1002+11C=
n.236C=
c.3808+11C= (n.3808+11C=)
c.3754+11C= (n.3754+11C=)
c.3400+11C= (n.3400+11C=)
c.2089+11C= (n.2089+11C=)
1g.11787504C>TCA17995597C1orf167,MTHFRc.3187+11C>T (n.3187+11C>T)
c.3673+11C>T (n.3673+11C>T)
c.*3176G>A (n.*3176G>A)
c.1823+11C>T
c.5270G>A (n.5270G>A)
c.3745+11C>T (n.3745+11C>T)
c.1172+11C>T
c.1002+11C>T
n.236C>T
c.3808+11C>T (n.3808+11C>T)
c.3754+11C>T (n.3754+11C>T)
c.3400+11C>T (n.3400+11C>T)
c.2089+11C>T (n.2089+11C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11787505T>CCA2643294462C1orf167,MTHFRc.3187+12T>C (n.3187+12T>C)
c.3673+12T>C (n.3673+12T>C)
c.*3175A>G (n.*3175A>G)
c.1823+12T>C
c.5269A>G (n.5269A>G)
c.3745+12T>C (n.3745+12T>C)
c.1172+12T>C
c.1002+12T>C
n.237T>C
c.3808+12T>C (n.3808+12T>C)
c.3754+12T>C (n.3754+12T>C)
c.3400+12T>C (n.3400+12T>C)
c.2089+12T>C (n.2089+12T>C)
 gnomAD v4
1g.11787506T>CCA2643294463C1orf167,MTHFRc.3187+13T>C (n.3187+13T>C)
c.3673+13T>C (n.3673+13T>C)
c.*3174A>G (n.*3174A>G)
c.1823+13T>C
c.5268A>G (n.5268A>G)
c.3745+13T>C (n.3745+13T>C)
c.1172+13T>C
c.1002+13T>C
n.238T>C
c.3808+13T>C (n.3808+13T>C)
c.3754+13T>C (n.3754+13T>C)
c.3400+13T>C (n.3400+13T>C)
c.2089+13T>C (n.2089+13T>C)
 gnomAD v4
1g.11787507G>ACA2643294465C1orf167,MTHFRc.3187+14G>A (n.3187+14G>A)
c.3673+14G>A (n.3673+14G>A)
c.*3173C>T (n.*3173C>T)
c.1823+14G>A
c.5267C>T (n.5267C>T)
c.3745+14G>A (n.3745+14G>A)
c.1172+14G>A
c.1002+14G>A
n.239G>A
c.3808+14G>A (n.3808+14G>A)
c.3754+14G>A (n.3754+14G>A)
c.3400+14G>A (n.3400+14G>A)
c.2089+14G>A (n.2089+14G>A)
 gnomAD v4
1g.11787507G>TCA2643294464C1orf167,MTHFRc.3187+14G>T (n.3187+14G>T)
c.3673+14G>T (n.3673+14G>T)
c.*3173C>A (n.*3173C>A)
c.1823+14G>T
c.5267C>A (n.5267C>A)
c.3745+14G>T (n.3745+14G>T)
c.1172+14G>T
c.1002+14G>T
n.239G>T
c.3808+14G>T (n.3808+14G>T)
c.3754+14G>T (n.3754+14G>T)
c.3400+14G>T (n.3400+14G>T)
c.2089+14G>T (n.2089+14G>T)
 gnomAD v4
1g.11787508C>ACA2643294467C1orf167,MTHFRc.3187+15C>A (n.3187+15C>A)
c.3673+15C>A (n.3673+15C>A)
c.*3172G>T (n.*3172G>T)
c.1823+15C>A
c.5266G>T (n.5266G>T)
c.3745+15C>A (n.3745+15C>A)
c.1172+15C>A
c.1002+15C>A
n.240C>A
c.3808+15C>A (n.3808+15C>A)
c.3754+15C>A (n.3754+15C>A)
c.3400+15C>A (n.3400+15C>A)
c.2089+15C>A (n.2089+15C>A)
 gnomAD v4
1g.11787508C=CA1153785947C1orf167,MTHFRc.3187+15C= (n.3187+15C=)
c.3673+15C= (n.3673+15C=)
c.*3172G= (n.*3172G=)
c.1823+15C=
c.5266G= (n.5266G=)
c.3745+15C= (n.3745+15C=)
c.1172+15C=
c.1002+15C=
n.240C=
c.3808+15C= (n.3808+15C=)
c.3754+15C= (n.3754+15C=)
c.3400+15C= (n.3400+15C=)
c.2089+15C= (n.2089+15C=)
1g.11787508C>TCA521191982C1orf167,MTHFRc.3187+15C>T (n.3187+15C>T)
c.3673+15C>T (n.3673+15C>T)
c.*3172G>A (n.*3172G>A)
c.1823+15C>T
c.5266G>A (n.5266G>A)
c.3745+15C>T (n.3745+15C>T)
c.1172+15C>T
c.1002+15C>T
n.240C>T
c.3808+15C>T (n.3808+15C>T)
c.3754+15C>T (n.3754+15C>T)
c.3400+15C>T (n.3400+15C>T)
c.2089+15C>T (n.2089+15C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.11787511delCA2643294466C1orf167,MTHFRc.3187+18del (n.3187+18del)
c.3673+18del (n.3673+18del)
c.*3172del (n.*3172del)
c.1823+18del
c.5266del (n.5266del)
c.3745+18del (n.3745+18del)
c.1172+18del
c.1002+18del
n.243del
c.3808+18del (n.3808+18del)
c.3754+18del (n.3754+18del)
c.3400+18del (n.3400+18del)
c.2089+18del (n.2089+18del)
 gnomAD v4
1g.11787509C=CA1153785949C1orf167,MTHFRc.3187+16C= (n.3187+16C=)
c.3673+16C= (n.3673+16C=)
c.*3171G= (n.*3171G=)
c.1823+16C=
c.5265G= (n.5265G=)
c.3745+16C= (n.3745+16C=)
c.1172+16C=
c.1002+16C=
n.241C=
c.3808+16C= (n.3808+16C=)
c.3754+16C= (n.3754+16C=)
c.3400+16C= (n.3400+16C=)
c.2089+16C= (n.2089+16C=)
1g.11787509C>TCA521191983C1orf167,MTHFRc.3187+16C>T (n.3187+16C>T)
c.3673+16C>T (n.3673+16C>T)
c.*3171G>A (n.*3171G>A)
c.1823+16C>T
c.5265G>A (n.5265G>A)
c.3745+16C>T (n.3745+16C>T)
c.1172+16C>T
c.1002+16C>T
n.241C>T
c.3808+16C>T (n.3808+16C>T)
c.3754+16C>T (n.3754+16C>T)
c.3400+16C>T (n.3400+16C>T)
c.2089+16C>T (n.2089+16C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.11787510C>ACA2643294468C1orf167,MTHFRc.3187+17C>A (n.3187+17C>A)
c.3673+17C>A (n.3673+17C>A)
c.*3170G>T (n.*3170G>T)
c.1823+17C>A
c.5264G>T (n.5264G>T)
c.3745+17C>A (n.3745+17C>A)
c.1172+17C>A
c.1002+17C>A
n.242C>A
c.3808+17C>A (n.3808+17C>A)
c.3754+17C>A (n.3754+17C>A)
c.3400+17C>A (n.3400+17C>A)
c.2089+17C>A (n.2089+17C>A)
 gnomAD v4
1g.11787511C>ACA2643294469C1orf167,MTHFRc.3187+18C>A (n.3187+18C>A)
c.3673+18C>A (n.3673+18C>A)
c.*3169G>T (n.*3169G>T)
c.1823+18C>A
c.5263G>T (n.5263G>T)
c.3745+18C>A (n.3745+18C>A)
c.1172+18C>A
c.1002+18C>A
n.243C>A
c.3808+18C>A (n.3808+18C>A)
c.3754+18C>A (n.3754+18C>A)
c.3400+18C>A (n.3400+18C>A)
c.2089+18C>A (n.2089+18C>A)
 gnomAD v4
1g.11787511C=CA1143655290C1orf167,MTHFRc.3187+18C= (n.3187+18C=)
c.3673+18C= (n.3673+18C=)
c.*3169G= (n.*3169G=)
c.1823+18C=
c.5263G= (n.5263G=)
c.3745+18C= (n.3745+18C=)
c.1172+18C=
c.1002+18C=
n.243C=
c.3808+18C= (n.3808+18C=)
c.3754+18C= (n.3754+18C=)
c.3400+18C= (n.3400+18C=)
c.2089+18C= (n.2089+18C=)
1g.11787511C>GCA595048C1orf167,MTHFRc.3187+18C>G (n.3187+18C>G)
c.3673+18C>G (n.3673+18C>G)
c.*3169G>C (n.*3169G>C)
c.1823+18C>G
c.5263G>C (n.5263G>C)
c.3745+18C>G (n.3745+18C>G)
c.1172+18C>G
c.1002+18C>G
n.243C>G
c.3808+18C>G (n.3808+18C>G)
c.3754+18C>G (n.3754+18C>G)
c.3400+18C>G (n.3400+18C>G)
c.2089+18C>G (n.2089+18C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11787511C>TCA17995606C1orf167,MTHFRc.3187+18C>T (n.3187+18C>T)
c.3673+18C>T (n.3673+18C>T)
c.*3169G>A (n.*3169G>A)
c.1823+18C>T
c.5263G>A (n.5263G>A)
c.3745+18C>T (n.3745+18C>T)
c.1172+18C>T
c.1002+18C>T
n.243C>T
c.3808+18C>T (n.3808+18C>T)
c.3754+18C>T (n.3754+18C>T)
c.3400+18C>T (n.3400+18C>T)
c.2089+18C>T (n.2089+18C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11787512G>ACA595049C1orf167,MTHFRc.3187+19G>A (n.3187+19G>A)
c.3673+19G>A (n.3673+19G>A)
c.*3168C>T (n.*3168C>T)
c.1823+19G>A
c.5262C>T (n.5262C>T)
c.3745+19G>A (n.3745+19G>A)
c.1172+19G>A
c.1002+19G>A
n.244G>A
c.3808+19G>A (n.3808+19G>A)
c.3754+19G>A (n.3754+19G>A)
c.3400+19G>A (n.3400+19G>A)
c.2089+19G>A (n.2089+19G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11787512G>CCA2509627313C1orf167,MTHFRc.3187+19G>C (n.3187+19G>C)
c.3673+19G>C (n.3673+19G>C)
c.*3168C>G (n.*3168C>G)
c.1823+19G>C
c.5262C>G (n.5262C>G)
c.3745+19G>C (n.3745+19G>C)
c.1172+19G>C
c.1002+19G>C
n.244G>C
c.3808+19G>C (n.3808+19G>C)
c.3754+19G>C (n.3754+19G>C)
c.3400+19G>C (n.3400+19G>C)
c.2089+19G>C (n.2089+19G>C)
 gnomAD v4
1g.11787512G=CA1148482344C1orf167,MTHFRc.3187+19G= (n.3187+19G=)
c.3673+19G= (n.3673+19G=)
c.*3168C= (n.*3168C=)
c.1823+19G=
c.5262C= (n.5262C=)
c.3745+19G= (n.3745+19G=)
c.1172+19G=
c.1002+19G=
n.244G=
c.3808+19G= (n.3808+19G=)
c.3754+19G= (n.3754+19G=)
c.3400+19G= (n.3400+19G=)
c.2089+19G= (n.2089+19G=)
1g.11787512G>TCA17995614C1orf167,MTHFRc.3187+19G>T (n.3187+19G>T)
c.3673+19G>T (n.3673+19G>T)
c.*3168C>A (n.*3168C>A)
c.1823+19G>T
c.5262C>A (n.5262C>A)
c.3745+19G>T (n.3745+19G>T)
c.1172+19G>T
c.1002+19G>T
n.244G>T
c.3808+19G>T (n.3808+19G>T)
c.3754+19G>T (n.3754+19G>T)
c.3400+19G>T (n.3400+19G>T)
c.2089+19G>T (n.2089+19G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11787516dupCA2742468198C1orf167,MTHFRc.3187+23dup (n.3187+23dup)
c.3673+23dup (n.3673+23dup)
c.*3168dup (n.*3168dup)
c.1823+23dup
c.5262dup (n.5262dup)
c.3745+23dup (n.3745+23dup)
c.1172+23dup
c.1002+23dup
n.248dup
c.3808+23dup (n.3808+23dup)
c.3754+23dup (n.3754+23dup)
c.3400+23dup (n.3400+23dup)
c.2089+23dup (n.2089+23dup)
1g.11787516delCA2574214206C1orf167,MTHFRc.3187+23del (n.3187+23del)
c.3673+23del (n.3673+23del)
c.*3168del (n.*3168del)
c.1823+23del
c.5262del (n.5262del)
c.3745+23del (n.3745+23del)
c.1172+23del
c.1002+23del
n.248del
c.3808+23del (n.3808+23del)
c.3754+23del (n.3754+23del)
c.3400+23del (n.3400+23del)
c.2089+23del (n.2089+23del)
 gnomAD v4
1g.11787513G>ACA521191988C1orf167,MTHFRc.3187+20G>A (n.3187+20G>A)
c.3673+20G>A (n.3673+20G>A)
c.*3167C>T (n.*3167C>T)
c.1823+20G>A
c.5261C>T (n.5261C>T)
c.3745+20G>A (n.3745+20G>A)
c.1172+20G>A
c.1002+20G>A
n.245G>A
c.3808+20G>A (n.3808+20G>A)
c.3754+20G>A (n.3754+20G>A)
c.3400+20G>A (n.3400+20G>A)
c.2089+20G>A (n.2089+20G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11787513G=CA1153785951C1orf167,MTHFRc.3187+20G= (n.3187+20G=)
c.3673+20G= (n.3673+20G=)
c.*3167C= (n.*3167C=)
c.1823+20G=
c.5261C= (n.5261C=)
c.3745+20G= (n.3745+20G=)
c.1172+20G=
c.1002+20G=
n.245G=
c.3808+20G= (n.3808+20G=)
c.3754+20G= (n.3754+20G=)
c.3400+20G= (n.3400+20G=)
c.2089+20G= (n.2089+20G=)
1g.11787513G>TCA2643294471C1orf167,MTHFRc.3187+20G>T (n.3187+20G>T)
c.3673+20G>T (n.3673+20G>T)
c.*3167C>A (n.*3167C>A)
c.1823+20G>T
c.5261C>A (n.5261C>A)
c.3745+20G>T (n.3745+20G>T)
c.1172+20G>T
c.1002+20G>T
n.245G>T
c.3808+20G>T (n.3808+20G>T)
c.3754+20G>T (n.3754+20G>T)
c.3400+20G>T (n.3400+20G>T)
c.2089+20G>T (n.2089+20G>T)
 gnomAD v4
1g.11787514G>ACA2574214212C1orf167,MTHFRc.3187+21G>A (n.3187+21G>A)
c.3673+21G>A (n.3673+21G>A)
c.*3166C>T (n.*3166C>T)
c.1823+21G>A
c.5260C>T (n.5260C>T)
c.3745+21G>A (n.3745+21G>A)
c.1172+21G>A
c.1002+21G>A
n.246G>A
c.3808+21G>A (n.3808+21G>A)
c.3754+21G>A (n.3754+21G>A)
c.3400+21G>A (n.3400+21G>A)
c.2089+21G>A (n.2089+21G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.11787514G>CCA886035685C1orf167,MTHFRc.3187+21G>C (n.3187+21G>C)
c.3673+21G>C (n.3673+21G>C)
c.*3166C>G (n.*3166C>G)
c.1823+21G>C
c.5260C>G (n.5260C>G)
c.3745+21G>C (n.3745+21G>C)
c.1172+21G>C
c.1002+21G>C
n.246G>C
c.3808+21G>C (n.3808+21G>C)
c.3754+21G>C (n.3754+21G>C)
c.3400+21G>C (n.3400+21G>C)
c.2089+21G>C (n.2089+21G>C)
 dbSNP gnomAD v3 gnomAD v4
1g.11787514G=CA1153785953C1orf167,MTHFRc.3187+21G= (n.3187+21G=)
c.3673+21G= (n.3673+21G=)
c.*3166C= (n.*3166C=)
c.1823+21G=
c.5260C= (n.5260C=)
c.3745+21G= (n.3745+21G=)
c.1172+21G=
c.1002+21G=
n.246G=
c.3808+21G= (n.3808+21G=)
c.3754+21G= (n.3754+21G=)
c.3400+21G= (n.3400+21G=)
c.2089+21G= (n.2089+21G=)
1g.11787514G>TCA2643294472C1orf167,MTHFRc.3187+21G>T (n.3187+21G>T)
c.3673+21G>T (n.3673+21G>T)
c.*3166C>A (n.*3166C>A)
c.1823+21G>T
c.5260C>A (n.5260C>A)
c.3745+21G>T (n.3745+21G>T)
c.1172+21G>T
c.1002+21G>T
n.246G>T
c.3808+21G>T (n.3808+21G>T)
c.3754+21G>T (n.3754+21G>T)
c.3400+21G>T (n.3400+21G>T)
c.2089+21G>T (n.2089+21G>T)
 gnomAD v4
1g.11787515G>TCA2643294473C1orf167,MTHFRc.3187+22G>T (n.3187+22G>T)
c.3673+22G>T (n.3673+22G>T)
c.*3165C>A (n.*3165C>A)
c.1823+22G>T
c.5259C>A (n.5259C>A)
c.3745+22G>T (n.3745+22G>T)
c.1172+22G>T
c.1002+22G>T
n.247G>T
c.3808+22G>T (n.3808+22G>T)
c.3754+22G>T (n.3754+22G>T)
c.3400+22G>T (n.3400+22G>T)
c.2089+22G>T (n.2089+22G>T)
 gnomAD v4
1g.11787516G>ACA1153785956C1orf167,MTHFRc.3187+23G>A (n.3187+23G>A)
c.3673+23G>A (n.3673+23G>A)
c.*3164C>T (n.*3164C>T)
c.1823+23G>A
c.5258C>T (n.5258C>T)
c.3745+23G>A (n.3745+23G>A)
c.1172+23G>A
c.1002+23G>A
n.248G>A
c.3808+23G>A (n.3808+23G>A)
c.3754+23G>A (n.3754+23G>A)
c.3400+23G>A (n.3400+23G>A)
c.2089+23G>A (n.2089+23G>A)
 dbSNP gnomAD v4
1g.11787516G=CA1153785957C1orf167,MTHFRc.3187+23G= (n.3187+23G=)
c.3673+23G= (n.3673+23G=)
c.*3164C= (n.*3164C=)
c.1823+23G=
c.5258C= (n.5258C=)
c.3745+23G= (n.3745+23G=)
c.1172+23G=
c.1002+23G=
n.248G=
c.3808+23G= (n.3808+23G=)
c.3754+23G= (n.3754+23G=)
c.3400+23G= (n.3400+23G=)
c.2089+23G= (n.2089+23G=)
1g.11787516G>TCA17995625C1orf167,MTHFRc.3187+23G>T (n.3187+23G>T)
c.3673+23G>T (n.3673+23G>T)
c.*3164C>A (n.*3164C>A)
c.1823+23G>T
c.5258C>A (n.5258C>A)
c.3745+23G>T (n.3745+23G>T)
c.1172+23G>T
c.1002+23G>T
n.248G>T
c.3808+23G>T (n.3808+23G>T)
c.3754+23G>T (n.3754+23G>T)
c.3400+23G>T (n.3400+23G>T)
c.2089+23G>T (n.2089+23G>T)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched