Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.11787413_11787414del | CA521191954 | C1orf167,MTHFR | c.3107_3108del (p.Thr1036ArgfsTer?) c.3593_3594del (p.Thr1198ArgfsTer?) c.*3268_*3269del (n.*3268_*3269del) c.1743_1744del c.5362_5363del (n.5362_5363del) c.3665_3666del (p.Thr1222ArgfsTer?) c.1092_1093del c.922_923del n.145_146del c.3728_3729del (p.Thr1243ArgfsTer?) c.3674_3675del (p.Thr1225ArgfsTer?) c.3320_3321del (p.Thr1107ArgfsTer?) c.2009_2010del (p.Thr670ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11787414A>C | CA416118796 | C1orf167,MTHFR | c.3108A>C (p.Thr1036=) c.3594A>C (p.Thr1198=) c.*3266T>G (n.*3266T>G) c.1744A>C c.5360T>G (n.5360T>G) c.3666A>C (p.Thr1222=) c.1093A>C c.923A>C n.146A>C c.3729A>C (p.Thr1243=) c.3675A>C (p.Thr1225=) c.3321A>C (p.Thr1107=) c.2010A>C (p.Thr670=) | |
1 | g.11787414A>G | CA416118797 | C1orf167,MTHFR | c.3108A>G (p.Thr1036=) c.3594A>G (p.Thr1198=) c.*3266T>C (n.*3266T>C) c.1744A>G c.5360T>C (n.5360T>C) c.3666A>G (p.Thr1222=) c.1093A>G c.923A>G n.146A>G c.3729A>G (p.Thr1243=) c.3675A>G (p.Thr1225=) c.3321A>G (p.Thr1107=) c.2010A>G (p.Thr670=) | gnomAD v4 |
1 | g.11787414A>T | CA416118798 | C1orf167,MTHFR | c.3108A>T (p.Thr1036=) c.3594A>T (p.Thr1198=) c.*3266T>A (n.*3266T>A) c.1744A>T c.5360T>A (n.5360T>A) c.3666A>T (p.Thr1222=) c.1093A>T c.923A>T n.146A>T c.3729A>T (p.Thr1243=) c.3675A>T (p.Thr1225=) c.3321A>T (p.Thr1107=) c.2010A>T (p.Thr670=) | |
1 | g.11787415G>A | CA338469195 | C1orf167,MTHFR | c.3109G>A (p.Glu1037Lys) c.3595G>A (p.Glu1199Lys) c.*3265C>T (n.*3265C>T) c.1745G>A c.5359C>T (n.5359C>T) c.3667G>A (p.Glu1223Lys) c.1094G>A c.924G>A n.147G>A c.3730G>A (p.Glu1244Lys) c.3676G>A (p.Glu1226Lys) c.3322G>A (p.Glu1108Lys) c.2011G>A (p.Glu671Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11787415G>C | CA338469196 | C1orf167,MTHFR | c.3109G>C (p.Glu1037Gln) c.3595G>C (p.Glu1199Gln) c.*3265C>G (n.*3265C>G) c.1745G>C c.5359C>G (n.5359C>G) c.3667G>C (p.Glu1223Gln) c.1094G>C c.924G>C n.147G>C c.3730G>C (p.Glu1244Gln) c.3676G>C (p.Glu1226Gln) c.3322G>C (p.Glu1108Gln) c.2011G>C (p.Glu671Gln) | |
1 | g.11787415G= | CA1153785834 | C1orf167,MTHFR | c.3109G= (p.Glu1037=) c.3595G= (p.Glu1199=) c.*3265C= (n.*3265C=) c.1745G= c.5359C= (n.5359C=) c.3667G= (p.Glu1223=) c.1094G= c.924G= n.147G= c.3730G= (p.Glu1244=) c.3676G= (p.Glu1226=) c.3322G= (p.Glu1108=) c.2011G= (p.Glu671=) | |
1 | g.11787415G>T | CA338469197 | C1orf167,MTHFR | c.3109G>T (p.Glu1037Ter) c.3595G>T (p.Glu1199Ter) c.*3265C>A (n.*3265C>A) c.1745G>T c.5359C>A (n.5359C>A) c.3667G>T (p.Glu1223Ter) c.1094G>T c.924G>T n.147G>T c.3730G>T (p.Glu1244Ter) c.3676G>T (p.Glu1226Ter) c.3322G>T (p.Glu1108Ter) c.2011G>T (p.Glu671Ter) | |
1 | g.11787416A>C | CA338469198 | C1orf167,MTHFR | c.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) | |
1 | g.11787416A>G | CA338469199 | C1orf167,MTHFR | c.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 |
1 | g.11787416A>T | CA338469200 | C1orf167,MTHFR | c.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) | |
1 | g.11787417G>A | CA416118799 | C1orf167,MTHFR | c.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 |
1 | g.11787417G>C | CA338469201 | C1orf167,MTHFR | c.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) | |
1 | g.11787417G= | CA1153785838 | C1orf167,MTHFR | c.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=) | |
1 | g.11787417G>T | CA338469202 | C1orf167,MTHFR | c.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 |
1 | g.11787418C>A | CA338469203 | C1orf167,MTHFR | c.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) | |
1 | g.11787418C>G | CA338469204 | C1orf167,MTHFR | c.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 |
1 | g.11787418C>T | CA416118800 | C1orf167,MTHFR | c.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=) | |
1 | g.11787419T>A | CA338469205 | C1orf167,MTHFR | c.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) | |
1 | g.11787419T>C | CA338469207 | C1orf167,MTHFR | c.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 |
1 | g.11787419T>G | CA338469206 | C1orf167,MTHFR | c.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) | |
1 | g.11787419T= | CA1153785840 | C1orf167,MTHFR | c.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=) | |
1 | g.11787419dup | CA998627415 | C1orf167,MTHFR | c.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 |
1 | g.11787420G>A | CA416118801 | C1orf167,MTHFR | c.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=) | |
1 | g.11787420G>C | CA416118802 | C1orf167,MTHFR | c.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=) | |
1 | g.11787420G>T | CA416118803 | C1orf167,MTHFR | c.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 |
1 | g.11787421G>A | CA338469208 | C1orf167,MTHFR | c.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 |
1 | g.11787421G>C | CA338469209 | C1orf167,MTHFR | c.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) | |
1 | g.11787421G= | CA1153785845 | C1orf167,MTHFR | c.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=) | |
1 | g.11787421G>T | CA338469210 | C1orf167,MTHFR | c.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) | |
1 | g.11787422T>A | CA338469211 | C1orf167,MTHFR | c.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) | |
1 | g.11787422T>C | CA338469212 | C1orf167,MTHFR | c.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) | |
1 | g.11787422T>G | CA338469213 | C1orf167,MTHFR | c.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) | |
1 | g.11787423G>A | CA416118804 | C1orf167,MTHFR | c.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 |
1 | g.11787423G>C | CA416118805 | C1orf167,MTHFR | c.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=) | |
1 | g.11787423G= | CA1153785849 | C1orf167,MTHFR | c.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=) | |
1 | g.11787423G>T | CA416118806 | C1orf167,MTHFR | c.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 |
1 | g.11787424C>A | CA338469214 | C1orf167,MTHFR | c.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) | |
1 | g.11787424C>G | CA338469215 | C1orf167,MTHFR | c.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) | |
1 | g.11787424C>T | CA338469216 | C1orf167,MTHFR | c.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 |
1 | g.11787425C>A | CA338469219 | C1orf167,MTHFR | c.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) | |
1 | g.11787425C= | CA1153785853 | C1orf167,MTHFR | c.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=) | |
1 | g.11787425C>G | CA338469218 | C1orf167,MTHFR | c.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 |
1 | g.11787425C>T | CA338469217 | C1orf167,MTHFR | c.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 |
1 | g.11787426T>A | CA416118807 | C1orf167,MTHFR | c.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 |
1 | g.11787426T>C | CA416118808 | C1orf167,MTHFR | c.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=) | |
1 | g.11787426T>G | CA416118809 | C1orf167,MTHFR | c.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=) | |
1 | g.11787427C>A | CA338469220 | C1orf167,MTHFR | c.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) | |
1 | g.11787427C>G | CA338469221 | C1orf167,MTHFR | c.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) | |
1 | g.11787427C>T | CA338469222 | C1orf167,MTHFR | c.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) | |
1 | g.11787428C>A | CA338469223 | C1orf167,MTHFR | c.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) | |
1 | g.11787428C>G | CA338469224 | C1orf167,MTHFR | c.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) | |
1 | g.11787428C>T | CA338469225 | C1orf167,MTHFR | c.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) | |
1 | g.11787429C>A | CA416118810 | C1orf167,MTHFR | c.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=) | |
1 | g.11787429C= | CA1153785855 | C1orf167,MTHFR | c.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=) | |
1 | g.11787429C>G | CA17995460 | C1orf167,MTHFR | c.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 |
1 | g.11787429C>T | CA17995472 | C1orf167,MTHFR | c.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 |
1 | g.11787430G>A | CA595039 | C1orf167,MTHFR | c.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 |
1 | g.11787430G>C | CA338469226 | C1orf167,MTHFR | c.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) | |
1 | g.11787430G= | CA1153785857 | C1orf167,MTHFR | c.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=) | |
1 | g.11787430G>T | CA338469227 | C1orf167,MTHFR | c.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) | |
1 | g.11787431C>A | CA338469228 | C1orf167,MTHFR | c.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) | |
1 | g.11787431C= | CA1145782587 | C1orf167,MTHFR | c.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=) | |
1 | g.11787431C>G | CA338469229 | C1orf167,MTHFR | c.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) | |
1 | g.11787431C>T | CA17995481 | C1orf167,MTHFR | c.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 |
1 | g.11787432G>A | CA595040 | C1orf167,MTHFR | c.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 |
1 | g.11787432G>C | CA416118811 | C1orf167,MTHFR | c.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 |
1 | g.11787432G= | CA1153785863 | C1orf167,MTHFR | c.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=) | |
1 | g.11787432G>T | CA416118812 | C1orf167,MTHFR | c.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=) | |
1 | g.11787433C>A | CA338469230 | C1orf167,MTHFR | c.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) | |
1 | g.11787433C>G | CA338469232 | C1orf167,MTHFR | c.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) | |
1 | g.11787433C>T | CA338469231 | C1orf167,MTHFR | c.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) | |
1 | g.11787434C>A | CA338469233 | C1orf167,MTHFR | c.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) | |
1 | g.11787434C= | CA1153785864 | C1orf167,MTHFR | c.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=) | |
1 | g.11787434C>G | CA338469234 | C1orf167,MTHFR | c.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) | |
1 | g.11787434C>T | CA338469235 | C1orf167,MTHFR | c.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 |
1 | g.11787435A>C | CA416118814 | C1orf167,MTHFR | c.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=) | |
1 | g.11787435A>G | CA416118815 | C1orf167,MTHFR | c.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 |
1 | g.11787435A>T | CA416118816 | C1orf167,MTHFR | c.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=) | |
1 | g.11787436T>A | CA338469236 | C1orf167,MTHFR | c.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) | |
1 | g.11787436T>C | CA338469237 | C1orf167,MTHFR | c.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) | |
1 | g.11787436T>G | CA338469238 | C1orf167,MTHFR | c.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) | |
1 | g.11787437C>A | CA338469239 | C1orf167,MTHFR | c.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) | |
1 | g.11787437C= | CA1153785865 | C1orf167,MTHFR | c.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=) | |
1 | g.11787437C>G | CA338469240 | C1orf167,MTHFR | c.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) | |
1 | g.11787437C>T | CA338469241 | C1orf167,MTHFR | c.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 |
1 | g.11787438A>C | CA416118817 | C1orf167,MTHFR | c.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=) | |
1 | g.11787438A>G | CA416118819 | C1orf167,MTHFR | c.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=) | |
1 | g.11787438A>T | CA416118818 | C1orf167,MTHFR | c.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=) | |
1 | g.11787439C>A | CA338469242 | C1orf167,MTHFR | c.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 |
1 | g.11787439C>G | CA338469243 | C1orf167,MTHFR | c.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) | |
1 | g.11787439C>T | CA416118820 | C1orf167,MTHFR | c.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=) | |
1 | g.11787440T>A | CA338469245 | C1orf167,MTHFR | c.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) | |
1 | g.11787440T>C | CA338469246 | C1orf167,MTHFR | c.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) | |
1 | g.11787440T>G | CA338469244 | C1orf167,MTHFR | c.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 |
1 | g.11787441G>A | CA416118821 | C1orf167,MTHFR | c.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=) | |
1 | g.11787441G>C | CA416118822 | C1orf167,MTHFR | c.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=) | |
1 | g.11787441G>T | CA416118823 | C1orf167,MTHFR | c.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=) | |
1 | g.11787442C>A | CA338469248 | C1orf167,MTHFR | c.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) | |
1 | g.11787442C>G | CA338469247 | C1orf167,MTHFR | c.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) | |
1 | g.11787442C>T | CA338469249 | C1orf167,MTHFR | c.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) | |
1 | g.11787443A= | CA1153785868 | C1orf167,MTHFR | c.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=) | |
1 | g.11787443A>C | CA338469250 | C1orf167,MTHFR | c.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) | |
1 | g.11787443A>G | CA338469251 | C1orf167,MTHFR | c.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 |
1 | g.11787443A>T | CA338469252 | C1orf167,MTHFR | c.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) | |
1 | g.11787444G>A | CA416118824 | C1orf167,MTHFR | c.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 |
1 | g.11787444G>C | CA338469253 | C1orf167,MTHFR | c.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) | |
1 | g.11787444G>T | CA338469254 | C1orf167,MTHFR | c.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 |
1 | g.11787445T>A | CA338469255 | C1orf167,MTHFR | c.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) | |
1 | g.11787445T>C | CA338469256 | C1orf167,MTHFR | c.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 |
1 | g.11787445T>G | CA338469258 | C1orf167,MTHFR | c.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 |
1 | g.11787445T= | CA1153785869 | C1orf167,MTHFR | c.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=) | |
1 | g.11787446G>A | CA338469259 | C1orf167,MTHFR | c.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) | |
1 | g.11787446G>C | CA338469260 | C1orf167,MTHFR | c.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) | |
1 | g.11787446G>T | CA338469261 | C1orf167,MTHFR | c.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 |
1 | g.11787447C>A | CA338469262 | C1orf167,MTHFR | c.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 |
1 | g.11787447C>G | CA338469263 | C1orf167,MTHFR | c.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) | |
1 | g.11787447C>T | CA416118825 | C1orf167,MTHFR | c.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=) | |
1 | g.11787448A>C | CA338469264 | C1orf167,MTHFR | c.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) | |
1 | g.11787448A>G | CA338469266 | C1orf167,MTHFR | c.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) | |
1 | g.11787448A>T | CA338469265 | C1orf167,MTHFR | c.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) | |
1 | g.11787449G>A | CA338469267 | C1orf167,MTHFR | c.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 |
1 | g.11787449G>C | CA338469268 | C1orf167,MTHFR | c.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) | |
1 | g.11787449G= | CA1153785872 | C1orf167,MTHFR | c.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=) | |
1 | g.11787449G>T | CA338469269 | C1orf167,MTHFR | c.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) | |
1 | g.11787450C>A | CA338469270 | C1orf167,MTHFR | c.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) | |
1 | g.11787450C>G | CA338469271 | C1orf167,MTHFR | c.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) | |
1 | g.11787450C>T | CA416118826 | C1orf167,MTHFR | c.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=) | |
1 | g.11787451C>A | CA338469272 | C1orf167,MTHFR | c.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) | |
1 | g.11787451C>G | CA338469273 | C1orf167,MTHFR | c.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) | |
1 | g.11787451C>T | CA416118827 | C1orf167,MTHFR | c.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 |
1 | g.11787452T>A | CA338469274 | C1orf167,MTHFR | c.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) | |
1 | g.11787452T>C | CA338469275 | C1orf167,MTHFR | c.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 |
1 | g.11787452T>G | CA338469276 | C1orf167,MTHFR | c.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) | |
1 | g.11787452T= | CA1153785875 | C1orf167,MTHFR | c.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=) | |
1 | g.11787453G>A | CA416118828 | C1orf167,MTHFR | c.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=) | |
1 | g.11787453G>C | CA416118829 | C1orf167,MTHFR | c.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=) | |
1 | g.11787453G>T | CA416118830 | C1orf167,MTHFR | c.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 |
1 | g.11787455del | CA2643294454 | C1orf167,MTHFR | c.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 |
1 | g.11787454G>A | CA17995500 | C1orf167,MTHFR | c.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 |
1 | g.11787454G>C | CA338469278 | C1orf167,MTHFR | c.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) | |
1 | g.11787454G= | CA1153785877 | C1orf167,MTHFR | c.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=) | |
1 | g.11787454G>T | CA338469277 | C1orf167,MTHFR | c.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 |
1 | g.11787455G>A | CA338469279 | C1orf167,MTHFR | c.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 |
1 | g.11787455G>C | CA338469280 | C1orf167,MTHFR | c.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) | |
1 | g.11787455G= | CA1153785879 | C1orf167,MTHFR | c.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=) | |
1 | g.11787455G>T | CA338469281 | C1orf167,MTHFR | c.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 |
1 | g.11787456T>A | CA416118831 | C1orf167,MTHFR | c.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 |
1 | g.11787456T>C | CA416118832 | C1orf167,MTHFR | c.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=) | |
1 | g.11787456T>G | CA416118833 | C1orf167,MTHFR | c.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=) | |
1 | g.11787456T= | CA1153785881 | C1orf167,MTHFR | c.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=) | |
1 | g.11787457G>A | CA338469282 | C1orf167,MTHFR | c.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) | |
1 | g.11787457G>C | CA338469283 | C1orf167,MTHFR | c.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) | |
1 | g.11787457G>T | CA338469284 | C1orf167,MTHFR | c.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) | |
1 | g.11787458G>A | CA338469285 | C1orf167,MTHFR | c.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 |
1 | g.11787458G>C | CA338469286 | C1orf167,MTHFR | c.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 |
1 | g.11787458G= | CA1153785884 | C1orf167,MTHFR | c.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=) | |
1 | g.11787458G>T | CA338469287 | C1orf167,MTHFR | c.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 |
1 | g.11787459A>C | CA416118836 | C1orf167,MTHFR | c.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=) | |
1 | g.11787459A>G | CA416118835 | C1orf167,MTHFR | c.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=) | |
1 | g.11787459A>T | CA416118834 | C1orf167,MTHFR | c.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=) | |
1 | g.11787460C>A | CA416118837 | C1orf167,MTHFR | c.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 |
1 | g.11787460C= | CA1142364886 | C1orf167,MTHFR | c.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=) | |
1 | g.11787460C>G | CA338469288 | C1orf167,MTHFR | c.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) | |
1 | g.11787460C>T | CA595041 | C1orf167,MTHFR | c.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 |
1 | g.11787461G>A | CA595042 | C1orf167,MTHFR | c.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 |
1 | g.11787461G>C | CA338469289 | C1orf167,MTHFR | c.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) | |
1 | g.11787461G= | CA1147198620 | C1orf167,MTHFR | c.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=) | |
1 | g.11787461G>T | CA595043 | C1orf167,MTHFR | c.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 |
1 | g.11787462G>A | CA416118838 | C1orf167,MTHFR | c.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 |
1 | g.11787462G>C | CA416118839 | C1orf167,MTHFR | c.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=) | |
1 | g.11787462G= | CA1153785893 | C1orf167,MTHFR | c.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=) | |
1 | g.11787462G>T | CA416118840 | C1orf167,MTHFR | c.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 |
1 | g.11787463A>C | CA416118841 | C1orf167,MTHFR | c.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 |
1 | g.11787463A>G | CA338469290 | C1orf167,MTHFR | c.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 |
1 | g.11787463A>T | CA338469291 | C1orf167,MTHFR | c.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) | |
1 | g.11787464G>A | CA338469292 | C1orf167,MTHFR | c.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) | |
1 | g.11787464G>C | CA338469293 | C1orf167,MTHFR | c.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) | |
1 | g.11787464G>T | CA338469294 | C1orf167,MTHFR | c.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) | |
1 | g.11787465G>A | CA416118843 | C1orf167,MTHFR | c.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=) | |
1 | g.11787465G>C | CA338469295 | C1orf167,MTHFR | c.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) | |
1 | g.11787465G>T | CA338469296 | C1orf167,MTHFR | c.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) | |
1 | g.11787466A>C | CA338469297 | C1orf167,MTHFR | c.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) | |
1 | g.11787466A>G | CA338469298 | C1orf167,MTHFR | c.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) | |
1 | g.11787466A>T | CA338469299 | C1orf167,MTHFR | c.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 |
1 | g.11787467A>C | CA338469300 | C1orf167,MTHFR | c.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) | |
1 | g.11787467A>G | CA338469301 | C1orf167,MTHFR | c.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) | |
1 | g.11787467A>T | CA338469302 | C1orf167,MTHFR | c.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) | |
1 | g.11787468G>A | CA416118844 | C1orf167,MTHFR | c.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=) | |
1 | g.11787468G>C | CA338469303 | C1orf167,MTHFR | c.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) | |
1 | g.11787468G>T | CA338469304 | C1orf167,MTHFR | c.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 |
1 | g.11787469C>A | CA338469307 | C1orf167,MTHFR | c.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 |
1 | g.11787469C>G | CA338469306 | C1orf167,MTHFR | c.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 |
1 | g.11787469C>T | CA338469305 | C1orf167,MTHFR | c.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) | |
1 | g.11787470C>A | CA338469308 | C1orf167,MTHFR | c.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) | |
1 | g.11787470C= | CA1153785896 | C1orf167,MTHFR | c.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=) | |
1 | g.11787470C>G | CA338469309 | C1orf167,MTHFR | c.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) | |
1 | g.11787470C>T | CA338469310 | C1orf167,MTHFR | c.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 |
1 | g.11787471A>C | CA416118845 | C1orf167,MTHFR | c.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=) | |
1 | g.11787471A>G | CA416118846 | C1orf167,MTHFR | c.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=) | |
1 | g.11787471A>T | CA416118847 | C1orf167,MTHFR | c.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=) | |
1 | g.11787472A>C | CA416118848 | C1orf167,MTHFR | c.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=) | |
1 | g.11787472A>G | CA338469311 | C1orf167,MTHFR | c.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) | |
1 | g.11787472A>T | CA338469312 | C1orf167,MTHFR | c.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 |
1 | g.11787473G>A | CA338469313 | C1orf167,MTHFR | c.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) | |
1 | g.11787473G>C | CA338469314 | C1orf167,MTHFR | c.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) | |
1 | g.11787473G>T | CA338469315 | C1orf167,MTHFR | c.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) | |
1 | g.11787474G>A | CA416118849 | C1orf167,MTHFR | c.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=) | |
1 | g.11787474G>C | CA338469316 | C1orf167,MTHFR | c.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 |
1 | g.11787474G= | CA1153785900 | C1orf167,MTHFR | c.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=) | |
1 | g.11787474G>T | CA338469317 | C1orf167,MTHFR | c.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) | |
1 | g.11787475G>A | CA338469318 | C1orf167,MTHFR | c.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 |
1 | g.11787475G>C | CA338469319 | C1orf167,MTHFR | c.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) | |
1 | g.11787475G= | CA1153785903 | C1orf167,MTHFR | c.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=) | |
1 | g.11787475G>T | CA338469320 | C1orf167,MTHFR | c.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) | |
1 | g.11787476G>A | CA338469321 | C1orf167,MTHFR | c.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) | |
1 | g.11787476G>C | CA338469322 | C1orf167,MTHFR | c.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) | |
1 | g.11787476G= | CA1153785909 | C1orf167,MTHFR | c.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=) | |
1 | g.11787476G>T | CA17995511 | C1orf167,MTHFR | c.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 |
1 | g.11787476_11787478dup | CA886035626 | C1orf167,MTHFR | c.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 |
1 | g.11787477A>C | CA416118850 | C1orf167,MTHFR | c.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=) | |
1 | g.11787477A>G | CA416118851 | C1orf167,MTHFR | c.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=) | |
1 | g.11787477A>T | CA416118852 | C1orf167,MTHFR | c.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=) | |
1 | g.11787478dup | CA916109495 | C1orf167,MTHFR | c.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 |
1 | g.11787478A>C | CA338469323 | C1orf167,MTHFR | c.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) | |
1 | g.11787478A>G | CA338469325 | C1orf167,MTHFR | c.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 |
1 | g.11787478A>T | CA338469324 | C1orf167,MTHFR | c.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) | |
1 | g.11787479C>A | CA338469326 | C1orf167,MTHFR | c.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 |
1 | g.11787479C= | CA1153785913 | C1orf167,MTHFR | c.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=) | |
1 | g.11787479C>G | CA595045 | C1orf167,MTHFR | c.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 |
1 | g.11787479C>T | CA595044 | C1orf167,MTHFR | c.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 |
1 | g.11787480G>A | CA416118853 | C1orf167,MTHFR | c.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 |
1 | g.11787480G>C | CA416118855 | C1orf167,MTHFR | c.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 |
1 | g.11787480G= | CA1153785917 | C1orf167,MTHFR | c.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=) | |
1 | g.11787480G>T | CA416118854 | C1orf167,MTHFR | c.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=) | |
1 | g.11787481G>A | CA338469327 | C1orf167,MTHFR | c.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) | |
1 | g.11787481G>C | CA338469328 | C1orf167,MTHFR | c.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) | |
1 | g.11787481G= | CA1153785920 | C1orf167,MTHFR | c.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=) | |
1 | g.11787481G>T | CA338469329 | C1orf167,MTHFR | c.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 |
1 | g.11787482C>A | CA338469330 | C1orf167,MTHFR | c.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 |
1 | g.11787482C= | CA1153785923 | C1orf167,MTHFR | c.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=) | |
1 | g.11787482C>G | CA338469331 | C1orf167,MTHFR | c.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) | |
1 | g.11787482C>T | CA338469332 | C1orf167,MTHFR | c.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 |
1 | g.11787483C>A | CA416118856 | C1orf167,MTHFR | c.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=) | |
1 | g.11787483C= | CA1153785924 | C1orf167,MTHFR | c.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=) | |
1 | g.11787483C>G | CA416118857 | C1orf167,MTHFR | c.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 |
1 | g.11787483C>T | CA416118858 | C1orf167,MTHFR | c.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 |
1 | g.11787484T>A | CA338469333 | C1orf167,MTHFR | c.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) | |
1 | g.11787484T>C | CA338469334 | C1orf167,MTHFR | c.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 |
1 | g.11787484T>G | CA338469336 | C1orf167,MTHFR | c.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) | |
1 | g.11787484T= | CA1153785927 | C1orf167,MTHFR | c.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=) | |
1 | g.11787485G>A | CA595046 | C1orf167,MTHFR | c.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 |
1 | g.11787485G>C | CA338469342 | C1orf167,MTHFR | c.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 |
1 | g.11787485G= | CA1153785932 | C1orf167,MTHFR | c.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=) | |
1 | g.11787485G>T | CA338469340 | C1orf167,MTHFR | c.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) | |
1 | g.11787486G>A | CA17995582 | C1orf167,MTHFR | c.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 |
1 | g.11787486G>C | CA338469345 | C1orf167,MTHFR | c.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) | |
1 | g.11787486G= | CA1153785934 | C1orf167,MTHFR | c.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=) | |
1 | g.11787486G>T | CA338469347 | C1orf167,MTHFR | c.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) | |
1 | g.11787487G>A | CA338469349 | C1orf167,MTHFR | c.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 |
1 | g.11787487G>C | CA338469352 | C1orf167,MTHFR | c.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) | |
1 | g.11787487G= | CA1153785935 | C1orf167,MTHFR | c.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=) | |
1 | g.11787487G>T | CA338469354 | C1orf167,MTHFR | c.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 |
1 | g.11787488C>A | CA338469357 | C1orf167,MTHFR | c.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 |
1 | g.11787488C>G | CA338469358 | C1orf167,MTHFR | c.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) | |
1 | g.11787488C>T | CA338469360 | C1orf167,MTHFR | c.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) | |
1 | g.11787489_11787490del | CA2643294455 | C1orf167,MTHFR | c.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 |
1 | g.11787489T>A | CA416118859 | C1orf167,MTHFR | c.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=) | |
1 | g.11787489T>C | CA416118860 | C1orf167,MTHFR | c.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=) | |
1 | g.11787489T>G | CA416118861 | C1orf167,MTHFR | c.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 |
1 | g.11787489T= | CA1153785936 | C1orf167,MTHFR | c.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=) | |
1 | g.11787490C>A | CA338469362 | C1orf167,MTHFR | c.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) | |
1 | g.11787490C>G | CA338469364 | C1orf167,MTHFR | c.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) | |
1 | g.11787490C>T | CA338469366 | C1orf167,MTHFR | c.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) | |
1 | g.11787491A= | CA1153785937 | C1orf167,MTHFR | c.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=) | |
1 | g.11787491A>C | CA10607824 | C1orf167,MTHFR | c.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 |
1 | g.11787491A>G | CA338469371 | C1orf167,MTHFR | c.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) | |
1 | g.11787491A>T | CA338469369 | C1orf167,MTHFR | c.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) | |
1 | g.11787493_11787494del | CA2643294456 | C1orf167,MTHFR | c.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 |
1 | g.11787491_11787495delinsAGAGT | CA1153785938 | C1orf167,MTHFR | c.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 | |
1 | g.11787492G>A | CA416118862 | C1orf167,MTHFR | c.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 |
1 | g.11787492G>C | CA338469375 | C1orf167,MTHFR | c.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) | |
1 | g.11787492G= | CA1153785940 | C1orf167,MTHFR | c.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=) | |
1 | g.11787492G>T | CA338469376 | C1orf167,MTHFR | c.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) | |
1 | g.11787492_11787495del | CA1153785939 | C1orf167,MTHFR | c.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 |
1 | g.11787493A>C | CA416118863 | C1orf167,MTHFR | c.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=) | |
1 | g.11787493A>G | CA338469379 | C1orf167,MTHFR | c.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 |
1 | g.11787493A>T | CA338469380 | C1orf167,MTHFR | c.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) | |
1 | g.11787494G>A | CA338469383 | C1orf167,MTHFR | c.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 |
1 | g.11787494G>C | CA338469385 | C1orf167,MTHFR | c.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) | |
1 | g.11787494G>T | CA338469387 | C1orf167,MTHFR | c.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) | |
1 | g.11787495T>A | CA338469390 | C1orf167,MTHFR | c.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) | |
1 | g.11787495T>C | CA338469392 | C1orf167,MTHFR | c.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) | |
1 | g.11787495T>G | CA338469394 | C1orf167,MTHFR | c.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) | |
1 | g.11787496A= | CA1153785941 | C1orf167,MTHFR | c.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=) | |
1 | g.11787496A>T | CA521191979 | C1orf167,MTHFR | c.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 |
1 | g.11787499_11787501del | CA2643294457 | C1orf167,MTHFR | c.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 |
1 | g.11787498G>T | CA2643294458 | C1orf167,MTHFR | c.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 |
1 | g.11787499G>A | CA2643294459 | C1orf167,MTHFR | c.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 |
1 | g.11787500A= | CA1153785942 | C1orf167,MTHFR | c.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=) | |
1 | g.11787500A>G | CA1153785943 | C1orf167,MTHFR | c.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 |
1 | g.11787501G>T | CA2574214198 | C1orf167,MTHFR | c.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) | |
1 | g.11787503C>A | CA595047 | C1orf167,MTHFR | c.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 |
1 | g.11787503C= | CA1153785944 | C1orf167,MTHFR | c.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=) | |
1 | g.11787504C>A | CA1153785946 | C1orf167,MTHFR | c.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 |
1 | g.11787504C= | CA1153785945 | C1orf167,MTHFR | c.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=) | |
1 | g.11787504C>T | CA17995597 | C1orf167,MTHFR | c.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 |
1 | g.11787505T>C | CA2643294462 | C1orf167,MTHFR | c.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 |
1 | g.11787506T>C | CA2643294463 | C1orf167,MTHFR | c.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 |
1 | g.11787507G>A | CA2643294465 | C1orf167,MTHFR | c.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 |
1 | g.11787507G>T | CA2643294464 | C1orf167,MTHFR | c.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 |
1 | g.11787508C>A | CA2643294467 | C1orf167,MTHFR | c.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 |
1 | g.11787508C= | CA1153785947 | C1orf167,MTHFR | c.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=) | |
1 | g.11787508C>T | CA521191982 | C1orf167,MTHFR | c.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 |
1 | g.11787511del | CA2643294466 | C1orf167,MTHFR | c.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 |
1 | g.11787509C= | CA1153785949 | C1orf167,MTHFR | c.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=) | |
1 | g.11787509C>T | CA521191983 | C1orf167,MTHFR | c.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 |
1 | g.11787510C>A | CA2643294468 | C1orf167,MTHFR | c.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 |
1 | g.11787511C>A | CA2643294469 | C1orf167,MTHFR | c.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 |
1 | g.11787511C= | CA1143655290 | C1orf167,MTHFR | c.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=) | |
1 | g.11787511C>G | CA595048 | C1orf167,MTHFR | c.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 |
1 | g.11787511C>T | CA17995606 | C1orf167,MTHFR | c.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 |
1 | g.11787512G>A | CA595049 | C1orf167,MTHFR | c.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 |
1 | g.11787512G>C | CA2509627313 | C1orf167,MTHFR | c.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 |
1 | g.11787512G= | CA1148482344 | C1orf167,MTHFR | c.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=) | |
1 | g.11787512G>T | CA17995614 | C1orf167,MTHFR | c.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 |
1 | g.11787516dup | CA2742468198 | C1orf167,MTHFR | c.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) | |
1 | g.11787516del | CA2574214206 | C1orf167,MTHFR | c.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 |
1 | g.11787513G>A | CA521191988 | C1orf167,MTHFR | c.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 |
1 | g.11787513G= | CA1153785951 | C1orf167,MTHFR | c.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=) | |
1 | g.11787513G>T | CA2643294471 | C1orf167,MTHFR | c.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 |
1 | g.11787514G>A | CA2574214212 | C1orf167,MTHFR | c.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 |
1 | g.11787514G>C | CA886035685 | C1orf167,MTHFR | c.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 |
1 | g.11787514G= | CA1153785953 | C1orf167,MTHFR | c.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=) | |
1 | g.11787514G>T | CA2643294472 | C1orf167,MTHFR | c.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 |