Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.45508986A>C | CA340133708 | MMACHC | c.620A>C (p.Asp207Ala) c.449A>C (p.Asp150Ala) c.425A>C (p.Asp142Ala) | |
1 | g.45508986A>G | CA340133704 | MMACHC | c.620A>G (p.Asp207Gly) c.449A>G (p.Asp150Gly) c.425A>G (p.Asp142Gly) | |
1 | g.45508986A>T | CA340133706 | MMACHC | c.620A>T (p.Asp207Val) c.449A>T (p.Asp150Val) c.425A>T (p.Asp142Val) | |
1 | g.45508987T>A | CA340133711 | MMACHC | c.621T>A (p.Asp207Glu) c.450T>A (p.Asp150Glu) c.426T>A (p.Asp142Glu) | dbSNP |
1 | g.45508987T>C | CA417881524 | MMACHC | c.621T>C (p.Asp207=) c.450T>C (p.Asp150=) c.426T>C (p.Asp142=) | |
1 | g.45508987T>G | CA340133712 | MMACHC | c.621T>G (p.Asp207Glu) c.450T>G (p.Asp150Glu) c.426T>G (p.Asp142Glu) | |
1 | g.45508987T= | CA2473783753 | MMACHC | c.621T= (p.Asp207=) c.450T= (p.Asp150=) c.426T= (p.Asp142=) | |
1 | g.45508989_45508991del | CA913075182 | MMACHC | c.623_625del (p.Ala208del) c.452_454del (p.Ala151del) c.428_430del (p.Ala143del) | |
1 | g.45508988G>A | CA340133715 | MMACHC | c.622G>A (p.Ala208Thr) c.451G>A (p.Ala151Thr) c.427G>A (p.Ala143Thr) | |
1 | g.45508988G>C | CA340133717 | MMACHC | c.622G>C (p.Ala208Pro) c.451G>C (p.Ala151Pro) c.427G>C (p.Ala143Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508988G= | CA2473783754 | MMACHC | c.622G= (p.Ala208=) c.451G= (p.Ala151=) c.427G= (p.Ala143=) | |
1 | g.45508988G>T | CA340133718 | MMACHC | c.622G>T (p.Ala208Ser) c.451G>T (p.Ala151Ser) c.427G>T (p.Ala143Ser) | |
1 | g.45508989C>A | CA340133721 | MMACHC | c.623C>A (p.Ala208Asp) c.452C>A (p.Ala151Asp) c.428C>A (p.Ala143Asp) | |
1 | g.45508989C>G | CA340133723 | MMACHC | c.623C>G (p.Ala208Gly) c.452C>G (p.Ala151Gly) c.428C>G (p.Ala143Gly) | |
1 | g.45508989C>T | CA340133725 | MMACHC | c.623C>T (p.Ala208Val) c.452C>T (p.Ala151Val) c.428C>T (p.Ala143Val) | |
1 | g.45508989_45508991delinsCTG | CA2473783755 | MMACHC | c.623_625delinsCTG (p.Ala208=) c.452_454delinsCTG (p.Ala151=) c.428_430delinsCTG (p.Ala143=) | |
1 | g.45508990del | CA2695198020 | MMACHC | c.624del (p.Val209Ter) c.453del (p.Val152Ter) c.429del (p.Val144Ter) | ClinVar |
1 | g.45508990T>A | CA417881530 | MMACHC | c.624T>A (p.Ala208=) c.453T>A (p.Ala151=) c.429T>A (p.Ala143=) | |
1 | g.45508990T>C | CA417881531 | MMACHC | c.624T>C (p.Ala208=) c.453T>C (p.Ala151=) c.429T>C (p.Ala143=) | dbSNP gnomAD v4 |
1 | g.45508990T>G | CA417881532 | MMACHC | c.624T>G (p.Ala208=) c.453T>G (p.Ala151=) c.429T>G (p.Ala143=) | |
1 | g.45508990T= | CA2473783756 | MMACHC | c.624T= (p.Ala208=) c.453T= (p.Ala151=) c.429T= (p.Ala143=) | |
1 | g.45508992_45508993del | CA658821034 | MMACHC | c.626_627del (p.Val209AspfsTer?) c.455_456del (p.Val152AspfsTer?) c.431_432del (p.Val144AspfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508991G>A | CA340133728 | MMACHC | c.625G>A (p.Val209Met) c.454G>A (p.Val152Met) c.430G>A (p.Val144Met) | |
1 | g.45508991G>C | CA340133730 | MMACHC | c.625G>C (p.Val209Leu) c.454G>C (p.Val152Leu) c.430G>C (p.Val144Leu) | |
1 | g.45508991G= | CA2473783757 | MMACHC | c.625G= (p.Val209=) c.454G= (p.Val152=) c.430G= (p.Val144=) | |
1 | g.45508991G>T | CA340133732 | MMACHC | c.625G>T (p.Val209Leu) c.454G>T (p.Val152Leu) c.430G>T (p.Val144Leu) | |
1 | g.45508992T>A | CA827811 | MMACHC | c.626T>A (p.Val209Glu) c.455T>A (p.Val152Glu) c.431T>A (p.Val144Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508992T>C | CA340133733 | MMACHC | c.626T>C (p.Val209Ala) c.455T>C (p.Val152Ala) c.431T>C (p.Val144Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508992T>G | CA827812 | MMACHC | c.626T>G (p.Val209Gly) c.455T>G (p.Val152Gly) c.431T>G (p.Val144Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508992T= | CA1144140605 | MMACHC | c.626T= (p.Val209=) c.455T= (p.Val152=) c.431T= (p.Val144=) | |
1 | g.45508992dup | CA915941284 | MMACHC | c.626dup (p.Thr210AspfsTer?) c.455dup (p.Thr153AspfsTer?) c.431dup (p.Thr145AspfsTer?) | ClinVar dbSNP gnomAD v4 |
1 | g.45508993G>A | CA417881658 | MMACHC | c.627G>A (p.Val209=) c.456G>A (p.Val152=) c.432G>A (p.Val144=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508993G>C | CA417881661 | MMACHC | c.627G>C (p.Val209=) c.456G>C (p.Val152=) c.432G>C (p.Val144=) | ClinVar dbSNP gnomAD v4 |
1 | g.45508993G= | CA2473783758 | MMACHC | c.627G= (p.Val209=) c.456G= (p.Val152=) c.432G= (p.Val144=) | |
1 | g.45508993G>T | CA417881663 | MMACHC | c.627G>T (p.Val209=) c.456G>T (p.Val152=) c.432G>T (p.Val144=) | |
1 | g.45508994A>C | CA340133735 | MMACHC | c.628A>C (p.Thr210Pro) c.457A>C (p.Thr153Pro) c.433A>C (p.Thr145Pro) | |
1 | g.45508994A>G | CA340133737 | MMACHC | c.628A>G (p.Thr210Ala) c.457A>G (p.Thr153Ala) c.433A>G (p.Thr145Ala) | |
1 | g.45508994A>T | CA340133740 | MMACHC | c.628A>T (p.Thr210Ser) c.457A>T (p.Thr153Ser) c.433A>T (p.Thr145Ser) | |
1 | g.45508995C>A | CA340133742 | MMACHC | c.629C>A (p.Thr210Lys) c.458C>A (p.Thr153Lys) c.434C>A (p.Thr145Lys) | |
1 | g.45508995C>G | CA340133744 | MMACHC | c.629C>G (p.Thr210Arg) c.458C>G (p.Thr153Arg) c.434C>G (p.Thr145Arg) | |
1 | g.45508995C>T | CA340133746 | MMACHC | c.629C>T (p.Thr210Ile) c.458C>T (p.Thr153Ile) c.434C>T (p.Thr145Ile) | |
1 | g.45508996A= | CA2473783759 | MMACHC | c.630A= (p.Thr210=) c.459A= (p.Thr153=) c.435A= (p.Thr145=) | |
1 | g.45508996A>C | CA417881667 | MMACHC | c.630A>C (p.Thr210=) c.459A>C (p.Thr153=) c.435A>C (p.Thr145=) | ClinVar dbSNP |
1 | g.45508996A>G | CA417881669 | MMACHC | c.630A>G (p.Thr210=) c.459A>G (p.Thr153=) c.435A>G (p.Thr145=) | |
1 | g.45508996A>T | CA417881670 | MMACHC | c.630A>T (p.Thr210=) c.459A>T (p.Thr153=) c.435A>T (p.Thr145=) | |
1 | g.45508997C>A | CA827813 | MMACHC | c.631C>A (p.Pro211Thr) c.460C>A (p.Pro154Thr) c.436C>A (p.Pro146Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508997C= | CA1143327169 | MMACHC | c.631C= (p.Pro211=) c.460C= (p.Pro154=) c.436C= (p.Pro146=) | |
1 | g.45508997C>G | CA340133749 | MMACHC | c.631C>G (p.Pro211Ala) c.460C>G (p.Pro154Ala) c.436C>G (p.Pro146Ala) | |
1 | g.45508997C>T | CA21829817 | MMACHC | c.631C>T (p.Pro211Ser) c.460C>T (p.Pro154Ser) c.436C>T (p.Pro146Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508999_45509000dup | CA1001244364 | MMACHC | c.633_634dup (p.Gln212ProfsTer?) c.462_463dup (p.Gln155ProfsTer?) c.438_439dup (p.Gln147ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45509000del | CA2586966647 | MMACHC | c.634del (p.Gln212ArgfsTer?) c.463del (p.Gln155ArgfsTer?) c.439del (p.Gln147ArgfsTer?) | ClinVar dbSNP |
1 | g.45508998C>A | CA340133754 | MMACHC | c.632C>A (p.Pro211His) c.461C>A (p.Pro154His) c.437C>A (p.Pro146His) | |
1 | g.45508998C= | CA2473783760 | MMACHC | c.632C= (p.Pro211=) c.461C= (p.Pro154=) c.437C= (p.Pro146=) | |
1 | g.45508998C>G | CA340133755 | MMACHC | c.632C>G (p.Pro211Arg) c.461C>G (p.Pro154Arg) c.437C>G (p.Pro146Arg) | |
1 | g.45508998C>T | CA827814 | MMACHC | c.632C>T (p.Pro211Leu) c.461C>T (p.Pro154Leu) c.437C>T (p.Pro146Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508999C>A | CA417881677 | MMACHC | c.633C>A (p.Pro211=) c.462C>A (p.Pro154=) c.438C>A (p.Pro146=) | COSMIC |
1 | g.45508999C= | CA1148086886 | MMACHC | c.633C= (p.Pro211=) c.462C= (p.Pro154=) c.438C= (p.Pro146=) | |
1 | g.45508999C>G | CA417881679 | MMACHC | c.633C>G (p.Pro211=) c.462C>G (p.Pro154=) c.438C>G (p.Pro146=) | gnomAD v4 |
1 | g.45508999C>T | CA827815 | MMACHC | c.633C>T (p.Pro211=) c.462C>T (p.Pro154=) c.438C>T (p.Pro146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509000C>A | CA340133763 | MMACHC | c.634C>A (p.Gln212Lys) c.463C>A (p.Gln155Lys) c.439C>A (p.Gln147Lys) | dbSNP |
1 | g.45509000C= | CA2473783761 | MMACHC | c.634C= (p.Gln212=) c.463C= (p.Gln155=) c.439C= (p.Gln147=) | |
1 | g.45509000C>G | CA340133759 | MMACHC | c.634C>G (p.Gln212Glu) c.463C>G (p.Gln155Glu) c.439C>G (p.Gln147Glu) | |
1 | g.45509000C>T | CA340133760 | MMACHC | c.634C>T (p.Gln212Ter) c.463C>T (p.Gln155Ter) c.439C>T (p.Gln147Ter) | gnomAD v4 |
1 | g.45509001A= | CA2473783762 | MMACHC | c.635A= (p.Gln212=) c.464A= (p.Gln155=) c.440A= (p.Gln147=) | |
1 | g.45509001A>C | CA340133765 | MMACHC | c.635A>C (p.Gln212Pro) c.464A>C (p.Gln155Pro) c.440A>C (p.Gln147Pro) | |
1 | g.45509001A>G | CA340133768 | MMACHC | c.635A>G (p.Gln212Arg) c.464A>G (p.Gln155Arg) c.440A>G (p.Gln147Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45509001A>T | CA340133769 | MMACHC | c.635A>T (p.Gln212Leu) c.464A>T (p.Gln155Leu) c.440A>T (p.Gln147Leu) | gnomAD v4 |
1 | g.45509002G>A | CA827816 | MMACHC | c.636G>A (p.Gln212=) c.465G>A (p.Gln155=) c.441G>A (p.Gln147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509002G>C | CA340133772 | MMACHC | c.636G>C (p.Gln212His) c.465G>C (p.Gln155His) c.441G>C (p.Gln147His) | |
1 | g.45509002G= | CA2473783763 | MMACHC | c.636G= (p.Gln212=) c.465G= (p.Gln155=) c.441G= (p.Gln147=) | |
1 | g.45509002G>T | CA340133774 | MMACHC | c.636G>T (p.Gln212His) c.465G>T (p.Gln155His) c.441G>T (p.Gln147His) | |
1 | g.45509003G>A | CA827817 | MMACHC | c.637G>A (p.Glu213Lys) c.466G>A (p.Glu156Lys) c.442G>A (p.Glu148Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.45509003G>C | CA340133777 | MMACHC | c.637G>C (p.Glu213Gln) c.466G>C (p.Glu156Gln) c.442G>C (p.Glu148Gln) | |
1 | g.45509003G= | CA2473783764 | MMACHC | c.637G= (p.Glu213=) c.466G= (p.Glu156=) c.442G= (p.Glu148=) | |
1 | g.45509003G>T | CA340133779 | MMACHC | c.637G>T (p.Glu213Ter) c.466G>T (p.Glu156Ter) c.442G>T (p.Glu148Ter) | |
1 | g.45509004A= | CA2473783765 | MMACHC | c.638A= (p.Glu213=) c.467A= (p.Glu156=) c.443A= (p.Glu148=) | |
1 | g.45509004A>C | CA340133780 | MMACHC | c.638A>C (p.Glu213Ala) c.467A>C (p.Glu156Ala) c.443A>C (p.Glu148Ala) | |
1 | g.45509004A>G | CA21829833 | MMACHC | c.638A>G (p.Glu213Gly) c.467A>G (p.Glu156Gly) c.443A>G (p.Glu148Gly) | dbSNP gnomAD v4 |
1 | g.45509004A>T | CA340133782 | MMACHC | c.638A>T (p.Glu213Val) c.467A>T (p.Glu156Val) c.443A>T (p.Glu148Val) | |
1 | g.45509005G>A | CA417881689 | MMACHC | c.639G>A (p.Glu213=) c.468G>A (p.Glu156=) c.444G>A (p.Glu148=) | |
1 | g.45509005G>C | CA340133788 | MMACHC | c.639G>C (p.Glu213Asp) c.468G>C (p.Glu156Asp) c.444G>C (p.Glu148Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45509005G= | CA2473783766 | MMACHC | c.639G= (p.Glu213=) c.468G= (p.Glu156=) c.444G= (p.Glu148=) | |
1 | g.45509005G>T | CA340133783 | MMACHC | c.639G>T (p.Glu213Asp) c.468G>T (p.Glu156Asp) c.444G>T (p.Glu148Asp) | |
1 | g.45509006C>A | CA340133791 | MMACHC | c.640C>A (p.Arg214Ser) c.469C>A (p.Arg157Ser) c.445C>A (p.Arg149Ser) | |
1 | g.45509006C= | CA2473783767 | MMACHC | c.640C= (p.Arg214=) c.469C= (p.Arg157=) c.445C= (p.Arg149=) | |
1 | g.45509006C>G | CA340133795 | MMACHC | c.640C>G (p.Arg214Gly) c.469C>G (p.Arg157Gly) c.445C>G (p.Arg149Gly) | |
1 | g.45509006C>T | CA340133793 | MMACHC | c.640C>T (p.Arg214Cys) c.469C>T (p.Arg157Cys) c.445C>T (p.Arg149Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509006dup | CA1001244371 | MMACHC | c.640dup (p.Arg214ProfsTer?) c.469dup (p.Arg157ProfsTer?) c.445dup (p.Arg149ProfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.45509007G>A | CA827818 | MMACHC | c.641G>A (p.Arg214His) c.470G>A (p.Arg157His) c.446G>A (p.Arg149His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509007G>C | CA340133801 | MMACHC | c.641G>C (p.Arg214Pro) c.470G>C (p.Arg157Pro) c.446G>C (p.Arg149Pro) | |
1 | g.45509007G= | CA1143532114 | MMACHC | c.641G= (p.Arg214=) c.470G= (p.Arg157=) c.446G= (p.Arg149=) | |
1 | g.45509007G>T | CA340133800 | MMACHC | c.641G>T (p.Arg214Leu) c.470G>T (p.Arg157Leu) c.446G>T (p.Arg149Leu) | |
1 | g.45509008C>A | CA827819 | MMACHC | c.642C>A (p.Arg214=) c.471C>A (p.Arg157=) c.447C>A (p.Arg149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509008C= | CA1143498031 | MMACHC | c.642C= (p.Arg214=) c.471C= (p.Arg157=) c.447C= (p.Arg149=) | |
1 | g.45509008C>G | CA417881694 | MMACHC | c.642C>G (p.Arg214=) c.471C>G (p.Arg157=) c.447C>G (p.Arg149=) | |
1 | g.45509008C>T | CA417881695 | MMACHC | c.642C>T (p.Arg214=) c.471C>T (p.Arg157=) c.447C>T (p.Arg149=) | |
1 | g.45509009T>A | CA340133805 | MMACHC | c.643T>A (p.Tyr215Asn) c.472T>A (p.Tyr158Asn) c.448T>A (p.Tyr150Asn) | |
1 | g.45509009T>C | CA827820 | MMACHC | c.643T>C (p.Tyr215His) c.472T>C (p.Tyr158His) c.448T>C (p.Tyr150His) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.45509009T>G | CA340133803 | MMACHC | c.643T>G (p.Tyr215Asp) c.472T>G (p.Tyr158Asp) c.448T>G (p.Tyr150Asp) | |
1 | g.45509009T= | CA2473783768 | MMACHC | c.643T= (p.Tyr215=) c.472T= (p.Tyr158=) c.448T= (p.Tyr150=) | |
1 | g.45509010A>C | CA340133807 | MMACHC | c.644A>C (p.Tyr215Ser) c.473A>C (p.Tyr158Ser) c.449A>C (p.Tyr150Ser) | |
1 | g.45509010A>G | CA340133808 | MMACHC | c.644A>G (p.Tyr215Cys) c.473A>G (p.Tyr158Cys) c.449A>G (p.Tyr150Cys) | |
1 | g.45509010A>T | CA340133809 | MMACHC | c.644A>T (p.Tyr215Phe) c.473A>T (p.Tyr158Phe) c.449A>T (p.Tyr150Phe) | |
1 | g.45509011C>A | CA340133811 | MMACHC | c.645C>A (p.Tyr215Ter) c.474C>A (p.Tyr158Ter) c.450C>A (p.Tyr150Ter) | |
1 | g.45509011C>G | CA340133813 | MMACHC | c.645C>G (p.Tyr215Ter) c.474C>G (p.Tyr158Ter) c.450C>G (p.Tyr150Ter) | |
1 | g.45509011C>T | CA417881697 | MMACHC | c.645C>T (p.Tyr215=) c.474C>T (p.Tyr158=) c.450C>T (p.Tyr150=) | |
1 | g.45509012_45509013del | CA2743432542 | MMACHC | c.646_647del (p.Ser216ArgfsTer28) c.475_476del (p.Ser159ArgfsTer28) c.451_452del (p.Ser151ArgfsTer28) | |
1 | g.45509012T>A | CA340133815 | MMACHC | c.646T>A (p.Ser216Thr) c.475T>A (p.Ser159Thr) c.451T>A (p.Ser151Thr) | |
1 | g.45509012T>C | CA827821 | MMACHC | c.646T>C (p.Ser216Pro) c.475T>C (p.Ser159Pro) c.451T>C (p.Ser151Pro) | dbSNP ExAC gnomAD v2 |
1 | g.45509012T>G | CA340133818 | MMACHC | c.646T>G (p.Ser216Ala) c.475T>G (p.Ser159Ala) c.451T>G (p.Ser151Ala) | |
1 | g.45509012T= | CA2473783769 | MMACHC | c.646T= (p.Ser216=) c.475T= (p.Ser159=) c.451T= (p.Ser151=) | |
1 | g.45509013C>A | CA340133820 | MMACHC | c.647C>A (p.Ser216Ter) c.476C>A (p.Ser159Ter) c.452C>A (p.Ser151Ter) | |
1 | g.45509013C= | CA2473783770 | MMACHC | c.647C= (p.Ser216=) c.476C= (p.Ser159=) c.452C= (p.Ser151=) | |
1 | g.45509013C>G | CA340133822 | MMACHC | c.647C>G (p.Ser216Ter) c.476C>G (p.Ser159Ter) c.452C>G (p.Ser151Ter) | |
1 | g.45509013C>T | CA340133824 | MMACHC | c.647C>T (p.Ser216Leu) c.476C>T (p.Ser159Leu) c.452C>T (p.Ser151Leu) | |
1 | g.45509013_45509015del | CA2573132355 | MMACHC | c.647_649del (p.Ser216Ter) c.476_478del (p.Ser159Ter) c.452_454del (p.Ser151Ter) | ClinVar dbSNP |
1 | g.45509013_45509015delinsCAG | CA2473783771 | MMACHC | c.647_649delinsCAG (p.Ser216=) c.476_478delinsCAG (p.Ser159=) c.452_454delinsCAG (p.Ser151=) | |
1 | g.45509014A= | CA1142739468 | MMACHC | c.648A= (p.Ser216=) c.477A= (p.Ser159=) c.453A= (p.Ser151=) | |
1 | g.45509014A>C | CA417881698 | MMACHC | c.648A>C (p.Ser216=) c.477A>C (p.Ser159=) c.453A>C (p.Ser151=) | |
1 | g.45509014A>G | CA417881699 | MMACHC | c.648A>G (p.Ser216=) c.477A>G (p.Ser159=) c.453A>G (p.Ser151=) | |
1 | g.45509014A>T | CA21829848 | MMACHC | c.648A>T (p.Ser216=) c.477A>T (p.Ser159=) c.453A>T (p.Ser151=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45509014dup | CA827822 | MMACHC | c.648dup (p.Glu217ArgfsTer28) c.477dup (p.Glu160ArgfsTer28) c.453dup (p.Glu152ArgfsTer28) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45509015_45509016del | CA736191928 | MMACHC | c.649_650del (p.Glu217ArgfsTer27) c.478_479del (p.Glu160ArgfsTer27) c.454_455del (p.Glu152ArgfsTer27) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.45509017_45509019del | CA2586966648 | MMACHC | c.651_653del (p.Glu218del) c.480_482del (p.Glu161del) c.456_458del (p.Glu153del) | |
1 | g.45509015G>A | CA340133829 | MMACHC | c.649G>A (p.Glu217Lys) c.478G>A (p.Glu160Lys) c.454G>A (p.Glu152Lys) | ClinVar dbSNP gnomAD v4 |
1 | g.45509015G>C | CA340133830 | MMACHC | c.649G>C (p.Glu217Gln) c.478G>C (p.Glu160Gln) c.454G>C (p.Glu152Gln) | |
1 | g.45509015G= | CA1144232806 | MMACHC | c.649G= (p.Glu217=) c.478G= (p.Glu160=) c.454G= (p.Glu152=) | |
1 | g.45509015G>T | CA229152 | MMACHC | c.649G>T (p.Glu217Ter) c.478G>T (p.Glu160Ter) c.454G>T (p.Glu152Ter) | ClinVar dbSNP |
1 | g.45509015_45509016insC | CA2645391260 | MMACHC | c.649_650insC (p.Glu217AlafsTer28) c.478_479insC (p.Glu160AlafsTer28) c.454_455insC (p.Glu152AlafsTer28) | gnomAD v4 |
1 | g.45509016A= | CA1143364684 | MMACHC | c.650A= (p.Glu217=) c.479A= (p.Glu160=) c.455A= (p.Glu152=) | |
1 | g.45509016A>C | CA340133835 | MMACHC | c.650A>C (p.Glu217Ala) c.479A>C (p.Glu160Ala) c.455A>C (p.Glu152Ala) | |
1 | g.45509016A>G | CA16617172 | MMACHC | c.650A>G (p.Glu217Gly) c.479A>G (p.Glu160Gly) c.455A>G (p.Glu152Gly) | ClinVar dbSNP gnomAD v4 |
1 | g.45509016A>T | CA827823 | MMACHC | c.650A>T (p.Glu217Val) c.479A>T (p.Glu160Val) c.455A>T (p.Glu152Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509017A= | CA2473783772 | MMACHC | c.651A= (p.Glu217=) c.480A= (p.Glu160=) c.456A= (p.Glu152=) | |
1 | g.45509017A>C | CA340133838 | MMACHC | c.651A>C (p.Glu217Asp) c.480A>C (p.Glu160Asp) c.456A>C (p.Glu152Asp) | |
1 | g.45509017A>G | CA21829871 | MMACHC | c.651A>G (p.Glu217=) c.480A>G (p.Glu160=) c.456A>G (p.Glu152=) | ClinVar dbSNP gnomAD v4 |
1 | g.45509017A>T | CA340133840 | MMACHC | c.651A>T (p.Glu217Asp) c.480A>T (p.Glu160Asp) c.456A>T (p.Glu152Asp) | |
1 | g.45509018G>A | CA340133843 | MMACHC | c.652G>A (p.Glu218Lys) c.481G>A (p.Glu161Lys) c.457G>A (p.Glu153Lys) | dbSNP gnomAD v4 COSMIC |
1 | g.45509018G>C | CA340133845 | MMACHC | c.652G>C (p.Glu218Gln) c.481G>C (p.Glu161Gln) c.457G>C (p.Glu153Gln) | |
1 | g.45509018G= | CA2473783773 | MMACHC | c.652G= (p.Glu218=) c.481G= (p.Glu161=) c.457G= (p.Glu153=) | |
1 | g.45509018G>T | CA340133846 | MMACHC | c.652G>T (p.Glu218Ter) c.481G>T (p.Glu161Ter) c.457G>T (p.Glu153Ter) | |
1 | g.45509018_45509021delinsGAGC | CA2473783774 | MMACHC | c.652_655delinsGAGC (p.Glu218=) c.481_484delinsGAGC (p.Glu161=) c.457_460delinsGAGC (p.Glu153=) | |
1 | g.45509018_45509030del | CA2743432547 | MMACHC | c.652_664del (p.Glu218ThrfsTer?) c.481_493del (p.Glu161ThrfsTer?) c.457_469del (p.Glu153ThrfsTer?) | |
1 | g.45509019A>C | CA340133853 | MMACHC | c.653A>C (p.Glu218Ala) c.482A>C (p.Glu161Ala) c.458A>C (p.Glu153Ala) | |
1 | g.45509019A>G | CA340133851 | MMACHC | c.653A>G (p.Glu218Gly) c.482A>G (p.Glu161Gly) c.458A>G (p.Glu153Gly) | |
1 | g.45509019A>T | CA340133849 | MMACHC | c.653A>T (p.Glu218Val) c.482A>T (p.Glu161Val) c.458A>T (p.Glu153Val) | |
1 | g.45509019dup | CA2586966649 | MMACHC | c.653dup (p.Gln219AlafsTer26) c.482dup (p.Gln162AlafsTer26) c.458dup (p.Gln154AlafsTer26) | |
1 | g.45509021_45509023del | CA1001244390 | MMACHC | c.655_657del (p.Gln219del) c.484_486del (p.Gln162del) c.460_462del (p.Gln154del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45509020G>A | CA417881706 | MMACHC | c.654G>A (p.Glu218=) c.483G>A (p.Glu161=) c.459G>A (p.Glu153=) | |
1 | g.45509020G>C | CA340133855 | MMACHC | c.654G>C (p.Glu218Asp) c.483G>C (p.Glu161Asp) c.459G>C (p.Glu153Asp) | |
1 | g.45509020G>T | CA340133857 | MMACHC | c.654G>T (p.Glu218Asp) c.483G>T (p.Glu161Asp) c.459G>T (p.Glu153Asp) | |
1 | g.45509021C>A | CA340133859 | MMACHC | c.655C>A (p.Gln219Lys) c.484C>A (p.Gln162Lys) c.460C>A (p.Gln154Lys) | |
1 | g.45509021C>G | CA340133861 | MMACHC | c.655C>G (p.Gln219Glu) c.484C>G (p.Gln162Glu) c.460C>G (p.Gln154Glu) | gnomAD v4 |
1 | g.45509021C>T | CA340133863 | MMACHC | c.655C>T (p.Gln219Ter) c.484C>T (p.Gln162Ter) c.460C>T (p.Gln154Ter) | |
1 | g.45509021_45509024delinsCAGA | CA2473783775 | MMACHC | c.655_658delinsCAGA (p.Gln219=) c.484_487delinsCAGA (p.Gln162=) c.460_463delinsCAGA (p.Gln154=) | |
1 | g.45509022A>C | CA340133869 | MMACHC | c.656A>C (p.Gln219Pro) c.485A>C (p.Gln162Pro) c.461A>C (p.Gln154Pro) | |
1 | g.45509022A>G | CA340133871 | MMACHC | c.656A>G (p.Gln219Arg) c.485A>G (p.Gln162Arg) c.461A>G (p.Gln154Arg) | gnomAD v4 |
1 | g.45509022A>T | CA340133873 | MMACHC | c.656A>T (p.Gln219Leu) c.485A>T (p.Gln162Leu) c.461A>T (p.Gln154Leu) | |
1 | g.45509022_45509026delinsAGAAG | CA1144232807 | MMACHC | c.656_660delinsAGAAG (p.Gln219=) c.485_489delinsAGAAG (p.Gln162=) c.461_465delinsAGAAG (p.Gln154=) | |
1 | g.45509024_45509026dup | CA2473783776 | MMACHC | c.658_660dup (p.Lys220_Ala221insLys) c.487_489dup (p.Lys163_Ala164insLys) c.463_465dup (p.Lys155_Ala156insLys) | dbSNP |
1 | g.45509024_45509026del | CA223197 | MMACHC | c.658_660del (p.Lys220del) c.487_489del (p.Lys163del) c.463_465del (p.Lys155del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509023G>A | CA417881713 | MMACHC | c.657G>A (p.Gln219=) c.486G>A (p.Gln162=) c.462G>A (p.Gln154=) | |
1 | g.45509023G>C | CA340133879 | MMACHC | c.657G>C (p.Gln219His) c.486G>C (p.Gln162His) c.462G>C (p.Gln154His) | |
1 | g.45509023G>T | CA340133882 | MMACHC | c.657G>T (p.Gln219His) c.486G>T (p.Gln162His) c.462G>T (p.Gln154His) | |
1 | g.45509024A= | CA1143390270 | MMACHC | c.658A= (p.Lys220=) c.487A= (p.Lys163=) c.463A= (p.Lys155=) | |
1 | g.45509024A>C | CA340133886 | MMACHC | c.658A>C (p.Lys220Gln) c.487A>C (p.Lys163Gln) c.463A>C (p.Lys155Gln) | |
1 | g.45509024A>G | CA827824 | MMACHC | c.658A>G (p.Lys220Glu) c.487A>G (p.Lys163Glu) c.463A>G (p.Lys155Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509024A>T | CA340133884 | MMACHC | c.658A>T (p.Lys220Ter) c.487A>T (p.Lys163Ter) c.463A>T (p.Lys155Ter) | |
1 | g.45509025A= | CA2473783777 | MMACHC | c.659A= (p.Lys220=) c.488A= (p.Lys163=) c.464A= (p.Lys155=) | |
1 | g.45509025A>C | CA827825 | MMACHC | c.659A>C (p.Lys220Thr) c.488A>C (p.Lys163Thr) c.464A>C (p.Lys155Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45509025A>G | CA340133888 | MMACHC | c.659A>G (p.Lys220Arg) c.488A>G (p.Lys163Arg) c.464A>G (p.Lys155Arg) | |
1 | g.45509025A>T | CA340133890 | MMACHC | c.659A>T (p.Lys220Met) c.488A>T (p.Lys163Met) c.464A>T (p.Lys155Met) | |
1 | g.45509026G>A | CA417881714 | MMACHC | c.660G>A (p.Lys220=) c.489G>A (p.Lys163=) c.465G>A (p.Lys155=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45509026G>C | CA340133891 | MMACHC | c.660G>C (p.Lys220Asn) c.489G>C (p.Lys163Asn) c.465G>C (p.Lys155Asn) | |
1 | g.45509026G= | CA2473783778 | MMACHC | c.660G= (p.Lys220=) c.489G= (p.Lys163=) c.465G= (p.Lys155=) | |
1 | g.45509026G>T | CA340133894 | MMACHC | c.660G>T (p.Lys220Asn) c.489G>T (p.Lys163Asn) c.465G>T (p.Lys155Asn) | |
1 | g.45509027del | CA2645391261 | MMACHC | c.661del (p.Ala221ProfsTer?) c.490del (p.Ala164ProfsTer?) c.466del (p.Ala156ProfsTer?) | gnomAD v4 |
1 | g.45509027G>A | CA340133896 | MMACHC | c.661G>A (p.Ala221Thr) c.490G>A (p.Ala164Thr) c.466G>A (p.Ala156Thr) | |
1 | g.45509027G>C | CA340133898 | MMACHC | c.661G>C (p.Ala221Pro) c.490G>C (p.Ala164Pro) c.466G>C (p.Ala156Pro) | |
1 | g.45509027G>T | CA340133900 | MMACHC | c.661G>T (p.Ala221Ser) c.490G>T (p.Ala164Ser) c.466G>T (p.Ala156Ser) | |
1 | g.45509027_45509030dup | CA2580062911 | MMACHC | c.661_664dup (p.Tyr222CysfsTer24) c.490_493dup (p.Tyr165CysfsTer24) c.466_469dup (p.Tyr157CysfsTer24) | ClinVar |
1 | g.45509028C>A | CA340133902 | MMACHC | c.662C>A (p.Ala221Asp) c.491C>A (p.Ala164Asp) c.467C>A (p.Ala156Asp) | |
1 | g.45509028C>G | CA340133903 | MMACHC | c.662C>G (p.Ala221Gly) c.491C>G (p.Ala164Gly) c.467C>G (p.Ala156Gly) | |
1 | g.45509028C>T | CA340133904 | MMACHC | c.662C>T (p.Ala221Val) c.491C>T (p.Ala164Val) c.467C>T (p.Ala156Val) | gnomAD v4 |
1 | g.45509029C>A | CA417881715 | MMACHC | c.663C>A (p.Ala221=) c.492C>A (p.Ala164=) c.468C>A (p.Ala156=) | ClinVar |
1 | g.45509029C= | CA1148229315 | MMACHC | c.663C= (p.Ala221=) c.492C= (p.Ala164=) c.468C= (p.Ala156=) | |
1 | g.45509029C>G | CA417881716 | MMACHC | c.663C>G (p.Ala221=) c.492C>G (p.Ala164=) c.468C>G (p.Ala156=) | |
1 | g.45509029C>T | CA827826 | MMACHC | c.663C>T (p.Ala221=) c.492C>T (p.Ala164=) c.468C>T (p.Ala156=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45509030T>A | CA340133909 | MMACHC | c.664T>A (p.Tyr222Asn) c.493T>A (p.Tyr165Asn) c.469T>A (p.Tyr157Asn) | |
1 | g.45509030T>C | CA340133906 | MMACHC | c.664T>C (p.Tyr222His) c.493T>C (p.Tyr165His) c.469T>C (p.Tyr157His) | dbSNP gnomAD v4 |
1 | g.45509030T>G | CA340133908 | MMACHC | c.664T>G (p.Tyr222Asp) c.493T>G (p.Tyr165Asp) c.469T>G (p.Tyr157Asp) | |
1 | g.45509030T= | CA2473783779 | MMACHC | c.664T= (p.Tyr222=) c.493T= (p.Tyr165=) c.469T= (p.Tyr157=) | |
1 | g.45509031A>C | CA340133911 | MMACHC | c.665A>C (p.Tyr222Ser) c.494A>C (p.Tyr165Ser) c.470A>C (p.Tyr157Ser) | |
1 | g.45509031A>G | CA340133912 | MMACHC | c.665A>G (p.Tyr222Cys) c.494A>G (p.Tyr165Cys) c.470A>G (p.Tyr157Cys) | gnomAD v4 |
1 | g.45509031A>T | CA340133914 | MMACHC | c.665A>T (p.Tyr222Phe) c.494A>T (p.Tyr165Phe) c.470A>T (p.Tyr157Phe) | |
1 | g.45509031_45509034delinsACTT | CA2473783780 | MMACHC | c.665_668delinsACTT (p.Tyr222=) c.494_497delinsACTT (p.Tyr165=) c.470_473delinsACTT (p.Tyr157=) | |
1 | g.45509032C>A | CA827827 | MMACHC | c.666C>A (p.Tyr222Ter) c.495C>A (p.Tyr165Ter) c.471C>A (p.Tyr157Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509032C= | CA1143471572 | MMACHC | c.666C= (p.Tyr222=) c.495C= (p.Tyr165=) c.471C= (p.Tyr157=) | |
1 | g.45509032C>G | CA340133917 | MMACHC | c.666C>G (p.Tyr222Ter) c.495C>G (p.Tyr165Ter) c.471C>G (p.Tyr157Ter) | |
1 | g.45509032C>T | CA417881717 | MMACHC | c.666C>T (p.Tyr222=) c.495C>T (p.Tyr165=) c.471C>T (p.Tyr157=) | dbSNP |
1 | g.45509034_45509036del | CA522810970 | MMACHC | c.668_670del (p.Phe223del) c.497_499del (p.Phe166del) c.473_475del (p.Phe158del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45509033T>A | CA340133924 | MMACHC | c.667T>A (p.Phe223Ile) c.496T>A (p.Phe166Ile) c.472T>A (p.Phe158Ile) | |
1 | g.45509033T>C | CA340133920 | MMACHC | c.667T>C (p.Phe223Leu) c.496T>C (p.Phe166Leu) c.472T>C (p.Phe158Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509033T>G | CA340133922 | MMACHC | c.667T>G (p.Phe223Val) c.496T>G (p.Phe166Val) c.472T>G (p.Phe158Val) | |
1 | g.45509033T= | CA2473783781 | MMACHC | c.667T= (p.Phe223=) c.496T= (p.Phe166=) c.472T= (p.Phe158=) | |
1 | g.45509034T>A | CA340133925 | MMACHC | c.668T>A (p.Phe223Tyr) c.497T>A (p.Phe166Tyr) c.473T>A (p.Phe158Tyr) | |
1 | g.45509034T>C | CA340133927 | MMACHC | c.668T>C (p.Phe223Ser) c.497T>C (p.Phe166Ser) c.473T>C (p.Phe158Ser) | ClinVar |
1 | g.45509034T>G | CA340133929 | MMACHC | c.668T>G (p.Phe223Cys) c.497T>G (p.Phe166Cys) c.473T>G (p.Phe158Cys) | |
1 | g.45509034_45509039delinsTCTCCA | CA2473783782 | MMACHC | c.668_673delinsTCTCCA (p.Phe223=) c.497_502delinsTCTCCA (p.Phe166=) c.473_478delinsTCTCCA (p.Phe158=) | |
1 | g.45509035C>A | CA340133931 | MMACHC | c.669C>A (p.Phe223Leu) c.498C>A (p.Phe166Leu) c.474C>A (p.Phe158Leu) | |
1 | g.45509035C>G | CA340133933 | MMACHC | c.669C>G (p.Phe223Leu) c.498C>G (p.Phe166Leu) c.474C>G (p.Phe158Leu) | |
1 | g.45509035C>T | CA417881718 | MMACHC | c.669C>T (p.Phe223=) c.498C>T (p.Phe166=) c.474C>T (p.Phe158=) | |
1 | g.45509041_45509045del | CA522810971 | MMACHC | c.675_679del (p.Pro226CysfsTer17) c.504_508del (p.Pro169CysfsTer17) c.480_484del (p.Pro161CysfsTer17) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.45509036T>A | CA340133936 | MMACHC | c.670T>A (p.Ser224Thr) c.499T>A (p.Ser167Thr) c.475T>A (p.Ser159Thr) | |
1 | g.45509036T>C | CA340133938 | MMACHC | c.670T>C (p.Ser224Pro) c.499T>C (p.Ser167Pro) c.475T>C (p.Ser159Pro) | gnomAD v4 |
1 | g.45509036T>G | CA340133937 | MMACHC | c.670T>G (p.Ser224Ala) c.499T>G (p.Ser167Ala) c.475T>G (p.Ser159Ala) | |
1 | g.45509037C>A | CA340133940 | MMACHC | c.671C>A (p.Ser224Tyr) c.500C>A (p.Ser167Tyr) c.476C>A (p.Ser159Tyr) | |
1 | g.45509037C>G | CA340133942 | MMACHC | c.671C>G (p.Ser224Cys) c.500C>G (p.Ser167Cys) c.476C>G (p.Ser159Cys) | |
1 | g.45509037C>T | CA340133944 | MMACHC | c.671C>T (p.Ser224Phe) c.500C>T (p.Ser167Phe) c.476C>T (p.Ser159Phe) | |
1 | g.45509037_45509059del | CA2743432559 | MMACHC | c.671_693del (p.Ser224CysfsTer13) c.500_522del (p.Ser167CysfsTer13) c.476_498del (p.Ser159CysfsTer13) | |
1 | g.45509038C>A | CA417881719 | MMACHC | c.672C>A (p.Ser224=) c.501C>A (p.Ser167=) c.477C>A (p.Ser159=) | |
1 | g.45509038C>G | CA417881720 | MMACHC | c.672C>G (p.Ser224=) c.501C>G (p.Ser167=) c.477C>G (p.Ser159=) | |
1 | g.45509038C>T | CA417881721 | MMACHC | c.672C>T (p.Ser224=) c.501C>T (p.Ser167=) c.477C>T (p.Ser159=) | gnomAD v4 |
1 | g.45509039A>C | CA340133946 | MMACHC | c.673A>C (p.Thr225Pro) c.502A>C (p.Thr168Pro) c.478A>C (p.Thr160Pro) | |
1 | g.45509039A>G | CA340133948 | MMACHC | c.673A>G (p.Thr225Ala) c.502A>G (p.Thr168Ala) c.478A>G (p.Thr160Ala) | |
1 | g.45509039A>T | CA340133950 | MMACHC | c.673A>T (p.Thr225Ser) c.502A>T (p.Thr168Ser) c.478A>T (p.Thr160Ser) | |
1 | g.45509040C>A | CA340133952 | MMACHC | c.674C>A (p.Thr225Asn) c.503C>A (p.Thr168Asn) c.479C>A (p.Thr160Asn) | |
1 | g.45509040C= | CA2473783783 | MMACHC | c.674C= (p.Thr225=) c.503C= (p.Thr168=) c.479C= (p.Thr160=) | |
1 | g.45509040C>G | CA340133954 | MMACHC | c.674C>G (p.Thr225Ser) c.503C>G (p.Thr168Ser) c.479C>G (p.Thr160Ser) | dbSNP |
1 | g.45509040C>T | CA340133956 | MMACHC | c.674C>T (p.Thr225Ile) c.503C>T (p.Thr168Ile) c.479C>T (p.Thr160Ile) | |
1 | g.45509041T>A | CA417881722 | MMACHC | c.675T>A (p.Thr225=) c.504T>A (p.Thr168=) c.480T>A (p.Thr160=) | |
1 | g.45509041T>C | CA417881723 | MMACHC | c.675T>C (p.Thr225=) c.504T>C (p.Thr168=) c.480T>C (p.Thr160=) | |
1 | g.45509041T>G | CA417881724 | MMACHC | c.675T>G (p.Thr225=) c.504T>G (p.Thr168=) c.480T>G (p.Thr160=) | |
1 | g.45509042C>A | CA340133958 | MMACHC | c.676C>A (p.Pro226Thr) c.505C>A (p.Pro169Thr) c.481C>A (p.Pro161Thr) | |
1 | g.45509042C= | CA2473783784 | MMACHC | c.676C= (p.Pro226=) c.505C= (p.Pro169=) c.481C= (p.Pro161=) | |
1 | g.45509042C>G | CA827828 | MMACHC | c.676C>G (p.Pro226Ala) c.505C>G (p.Pro169Ala) c.481C>G (p.Pro161Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509042C>T | CA340133959 | MMACHC | c.676C>T (p.Pro226Ser) c.505C>T (p.Pro169Ser) c.481C>T (p.Pro161Ser) | gnomAD v4 |
1 | g.45509043dup | CA2645391262 | MMACHC | c.677dup (p.Pro227ThrfsTer18) c.506dup (p.Pro170ThrfsTer18) c.482dup (p.Pro162ThrfsTer18) | gnomAD v4 |
1 | g.45509043C>A | CA340133960 | MMACHC | c.677C>A (p.Pro226Gln) c.506C>A (p.Pro169Gln) c.482C>A (p.Pro161Gln) | gnomAD v4 |
1 | g.45509043C= | CA2473783785 | MMACHC | c.677C= (p.Pro226=) c.506C= (p.Pro169=) c.482C= (p.Pro161=) | |
1 | g.45509043C>G | CA340133962 | MMACHC | c.677C>G (p.Pro226Arg) c.506C>G (p.Pro169Arg) c.482C>G (p.Pro161Arg) | |
1 | g.45509043C>T | CA340133961 | MMACHC | c.677C>T (p.Pro226Leu) c.506C>T (p.Pro169Leu) c.482C>T (p.Pro161Leu) | dbSNP gnomAD v4 |
1 | g.45509044A>C | CA417881725 | MMACHC | c.678A>C (p.Pro226=) c.507A>C (p.Pro169=) c.483A>C (p.Pro161=) | ClinVar |
1 | g.45509044A>G | CA417881726 | MMACHC | c.678A>G (p.Pro226=) c.507A>G (p.Pro169=) c.483A>G (p.Pro161=) | ClinVar dbSNP |
1 | g.45509044A>T | CA417881727 | MMACHC | c.678A>T (p.Pro226=) c.507A>T (p.Pro169=) c.483A>T (p.Pro161=) | |
1 | g.45509045C>A | CA340133963 | MMACHC | c.679C>A (p.Pro227Thr) c.508C>A (p.Pro170Thr) c.484C>A (p.Pro162Thr) | |
1 | g.45509045C>G | CA340133964 | MMACHC | c.679C>G (p.Pro227Ala) c.508C>G (p.Pro170Ala) c.484C>G (p.Pro162Ala) | |
1 | g.45509045C>T | CA340133965 | MMACHC | c.679C>T (p.Pro227Ser) c.508C>T (p.Pro170Ser) c.484C>T (p.Pro162Ser) | gnomAD v4 |
1 | g.45509046C>A | CA340133966 | MMACHC | c.680C>A (p.Pro227His) c.509C>A (p.Pro170His) c.485C>A (p.Pro162His) | |
1 | g.45509046C= | CA2473783786 | MMACHC | c.680C= (p.Pro227=) c.509C= (p.Pro170=) c.485C= (p.Pro162=) | |
1 | g.45509046C>G | CA340133967 | MMACHC | c.680C>G (p.Pro227Arg) c.509C>G (p.Pro170Arg) c.485C>G (p.Pro162Arg) | |
1 | g.45509046C>T | CA340133968 | MMACHC | c.680C>T (p.Pro227Leu) c.509C>T (p.Pro170Leu) c.485C>T (p.Pro162Leu) | dbSNP |
1 | g.45509047T>A | CA417881728 | MMACHC | c.681T>A (p.Pro227=) c.510T>A (p.Pro170=) c.486T>A (p.Pro162=) | |
1 | g.45509047T>C | CA417881729 | MMACHC | c.681T>C (p.Pro227=) c.510T>C (p.Pro170=) c.486T>C (p.Pro162=) | |
1 | g.45509047T>G | CA417881730 | MMACHC | c.681T>G (p.Pro227=) c.510T>G (p.Pro170=) c.486T>G (p.Pro162=) | |
1 | g.45509048del | CA2743432566 | MMACHC | c.682del (p.Ala228ProfsTer?) c.511del (p.Ala171ProfsTer?) c.487del (p.Ala163ProfsTer?) | |
1 | g.45509048G>A | CA340133969 | MMACHC | c.682G>A (p.Ala228Thr) c.511G>A (p.Ala171Thr) c.487G>A (p.Ala163Thr) | dbSNP gnomAD v2 |
1 | g.45509048G>C | CA340133970 | MMACHC | c.682G>C (p.Ala228Pro) c.511G>C (p.Ala171Pro) c.487G>C (p.Ala163Pro) | |
1 | g.45509048G= | CA2473783787 | MMACHC | c.682G= (p.Ala228=) c.511G= (p.Ala171=) c.487G= (p.Ala163=) | |
1 | g.45509048G>T | CA340133971 | MMACHC | c.682G>T (p.Ala228Ser) c.511G>T (p.Ala171Ser) c.487G>T (p.Ala163Ser) | |
1 | g.45509049C>A | CA340133972 | MMACHC | c.683C>A (p.Ala228Asp) c.512C>A (p.Ala171Asp) c.488C>A (p.Ala163Asp) | |
1 | g.45509049C= | CA1143471574 | MMACHC | c.683C= (p.Ala228=) c.512C= (p.Ala171=) c.488C= (p.Ala163=) | |
1 | g.45509049C>G | CA340133973 | MMACHC | c.683C>G (p.Ala228Gly) c.512C>G (p.Ala171Gly) c.488C>G (p.Ala163Gly) | |
1 | g.45509049C>T | CA827829 | MMACHC | c.683C>T (p.Ala228Val) c.512C>T (p.Ala171Val) c.488C>T (p.Ala163Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509050C>A | CA417881731 | MMACHC | c.684C>A (p.Ala228=) c.513C>A (p.Ala171=) c.489C>A (p.Ala163=) | |
1 | g.45509050C= | CA2473783789 | MMACHC | c.684C= (p.Ala228=) c.513C= (p.Ala171=) c.489C= (p.Ala163=) | |
1 | g.45509050C>G | CA417881732 | MMACHC | c.684C>G (p.Ala228=) c.513C>G (p.Ala171=) c.489C>G (p.Ala163=) | |
1 | g.45509050C>T | CA417881733 | MMACHC | c.684C>T (p.Ala228=) c.513C>T (p.Ala171=) c.489C>T (p.Ala163=) | ClinVar dbSNP gnomAD v4 |
1 | g.45509050_45509053delinsCCAA | CA2473783788 | MMACHC | c.684_687delinsCCAA (p.Ala228=) c.513_516delinsCCAA (p.Ala171=) c.489_492delinsCCAA (p.Ala163=) | |
1 | g.45509051C>A | CA340133975 | MMACHC | c.685C>A (p.Gln229Lys) c.514C>A (p.Gln172Lys) c.490C>A (p.Gln164Lys) | |
1 | g.45509051C= | CA2473783790 | MMACHC | c.685C= (p.Gln229=) c.514C= (p.Gln172=) c.490C= (p.Gln164=) | |
1 | g.45509051C>G | CA340133974 | MMACHC | c.685C>G (p.Gln229Glu) c.514C>G (p.Gln172Glu) c.490C>G (p.Gln164Glu) | |
1 | g.45509051C>T | CA827830 | MMACHC | c.685C>T (p.Gln229Ter) c.514C>T (p.Gln172Ter) c.490C>T (p.Gln164Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45509052_45509054del | CA916166635 | MMACHC | c.686_688del (p.Gln229del) c.515_517del (p.Gln172del) c.491_493del (p.Gln164del) | dbSNP |
1 | g.45509052A>C | CA340133976 | MMACHC | c.686A>C (p.Gln229Pro) c.515A>C (p.Gln172Pro) c.491A>C (p.Gln164Pro) | |
1 | g.45509052A>G | CA340133977 | MMACHC | c.686A>G (p.Gln229Arg) c.515A>G (p.Gln172Arg) c.491A>G (p.Gln164Arg) | |
1 | g.45509052A>T | CA340133978 | MMACHC | c.686A>T (p.Gln229Leu) c.515A>T (p.Gln172Leu) c.491A>T (p.Gln164Leu) | |
1 | g.45509053A= | CA1143675191 | MMACHC | c.687A= (p.Gln229=) c.516A= (p.Gln172=) c.492A= (p.Gln164=) | |
1 | g.45509053A>C | CA340133979 | MMACHC | c.687A>C (p.Gln229His) c.516A>C (p.Gln172His) c.492A>C (p.Gln164His) | |
1 | g.45509053A>G | CA827831 | MMACHC | c.687A>G (p.Gln229=) c.516A>G (p.Gln172=) c.492A>G (p.Gln164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509053A>T | CA21829906 | MMACHC | c.687A>T (p.Gln229His) c.516A>T (p.Gln172His) c.492A>T (p.Gln164His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45509053_45509054del | CA2645391263 | MMACHC | c.687_688del (p.Arg230IlefsTer14) c.516_517del (p.Arg173IlefsTer14) c.492_493del (p.Arg165IlefsTer14) | gnomAD v4 |
1 | g.45509054C>A | CA417881734 | MMACHC | c.688C>A (p.Arg230=) c.517C>A (p.Arg173=) c.493C>A (p.Arg165=) | dbSNP |
1 | g.45509054C= | CA1143465906 | MMACHC | c.688C= (p.Arg230=) c.517C= (p.Arg173=) c.493C= (p.Arg165=) | |
1 | g.45509054C>G | CA340133980 | MMACHC | c.688C>G (p.Arg230Gly) c.517C>G (p.Arg173Gly) c.493C>G (p.Arg165Gly) | |
1 | g.45509054C>T | CA827832 | MMACHC | c.688C>T (p.Arg230Ter) c.517C>T (p.Arg173Ter) c.493C>T (p.Arg165Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509055G>A | CA827833 | MMACHC | c.689G>A (p.Arg230Gln) c.518G>A (p.Arg173Gln) c.494G>A (p.Arg165Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509055G>C | CA340133981 | MMACHC | c.689G>C (p.Arg230Pro) c.518G>C (p.Arg173Pro) c.494G>C (p.Arg165Pro) | ClinVar dbSNP |
1 | g.45509055G= | CA2473783791 | MMACHC | c.689G= (p.Arg230=) c.518G= (p.Arg173=) c.494G= (p.Arg165=) | |
1 | g.45509055G>T | CA827834 | MMACHC | c.689G>T (p.Arg230Leu) c.518G>T (p.Arg173Leu) c.494G>T (p.Arg165Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45509056A>C | CA417881735 | MMACHC | c.690A>C (p.Arg230=) c.519A>C (p.Arg173=) c.495A>C (p.Arg165=) | COSMIC |
1 | g.45509056A>G | CA417881736 | MMACHC | c.690A>G (p.Arg230=) c.519A>G (p.Arg173=) c.495A>G (p.Arg165=) | |
1 | g.45509056A>T | CA417881737 | MMACHC | c.690A>T (p.Arg230=) c.519A>T (p.Arg173=) c.495A>T (p.Arg165=) | |
1 | g.45509057T>A | CA340133985 | MMACHC | c.691T>A (p.Leu231Met) c.520T>A (p.Leu174Met) c.496T>A (p.Leu166Met) | |
1 | g.45509057T>C | CA827835 | MMACHC | c.691T>C (p.Leu231=) c.520T>C (p.Leu174=) c.496T>C (p.Leu166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509057T>G | CA340133982 | MMACHC | c.691T>G (p.Leu231Val) c.520T>G (p.Leu174Val) c.496T>G (p.Leu166Val) | |
1 | g.45509057T= | CA1143912401 | MMACHC | c.691T= (p.Leu231=) c.520T= (p.Leu174=) c.496T= (p.Leu166=) | |
1 | g.45509058T>A | CA340133987 | MMACHC | c.692T>A (p.Leu231Ter) c.521T>A (p.Leu174Ter) c.497T>A (p.Leu166Ter) | |
1 | g.45509058T>C | CA340133991 | MMACHC | c.692T>C (p.Leu231Ser) c.521T>C (p.Leu174Ser) c.497T>C (p.Leu166Ser) | |
1 | g.45509058T>G | CA340133989 | MMACHC | c.692T>G (p.Leu231Trp) c.521T>G (p.Leu174Trp) c.497T>G (p.Leu166Trp) | gnomAD v4 |
1 | g.45509059G>A | CA417881738 | MMACHC | c.693G>A (p.Leu231=) c.522G>A (p.Leu174=) c.498G>A (p.Leu166=) | |
1 | g.45509059G>C | CA340133994 | MMACHC | c.693G>C (p.Leu231Phe) c.522G>C (p.Leu174Phe) c.498G>C (p.Leu166Phe) | |
1 | g.45509059G>T | CA340133996 | MMACHC | c.693G>T (p.Leu231Phe) c.522G>T (p.Leu174Phe) c.498G>T (p.Leu166Phe) | COSMIC |
1 | g.45509060G>A | CA340133998 | MMACHC | c.694G>A (p.Ala232Thr) c.523G>A (p.Ala175Thr) c.499G>A (p.Ala167Thr) | |
1 | g.45509060G>C | CA340134000 | MMACHC | c.694G>C (p.Ala232Pro) c.523G>C (p.Ala175Pro) c.499G>C (p.Ala167Pro) | |
1 | g.45509060G>T | CA340134002 | MMACHC | c.694G>T (p.Ala232Ser) c.523G>T (p.Ala175Ser) c.499G>T (p.Ala167Ser) | |
1 | g.45509061C>A | CA340134004 | MMACHC | c.695C>A (p.Ala232Asp) c.524C>A (p.Ala175Asp) c.500C>A (p.Ala167Asp) | |
1 | g.45509061C>G | CA340134007 | MMACHC | c.695C>G (p.Ala232Gly) c.524C>G (p.Ala175Gly) c.500C>G (p.Ala167Gly) | |
1 | g.45509061C>T | CA340134008 | MMACHC | c.695C>T (p.Ala232Val) c.524C>T (p.Ala175Val) c.500C>T (p.Ala167Val) | |
1 | g.45509062C>A | CA417881739 | MMACHC | c.696C>A (p.Ala232=) c.525C>A (p.Ala175=) c.501C>A (p.Ala167=) | |
1 | g.45509062C= | CA2473783792 | MMACHC | c.696C= (p.Ala232=) c.525C= (p.Ala175=) c.501C= (p.Ala167=) | |
1 | g.45509062C>G | CA417881740 | MMACHC | c.696C>G (p.Ala232=) c.525C>G (p.Ala175=) c.501C>G (p.Ala167=) | ClinVar dbSNP |
1 | g.45509062C>T | CA827836 | MMACHC | c.696C>T (p.Ala232=) c.525C>T (p.Ala175=) c.501C>T (p.Ala167=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509063C>A | CA340134012 | MMACHC | c.697C>A (p.Leu233Ile) c.526C>A (p.Leu176Ile) c.502C>A (p.Leu168Ile) | |
1 | g.45509063C= | CA2473783793 | MMACHC | c.697C= (p.Leu233=) c.526C= (p.Leu176=) c.502C= (p.Leu168=) | |
1 | g.45509063C>G | CA827837 | MMACHC | c.697C>G (p.Leu233Val) c.526C>G (p.Leu176Val) c.502C>G (p.Leu168Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45509063C>T | CA417881741 | MMACHC | c.697C>T (p.Leu233=) c.526C>T (p.Leu176=) c.502C>T (p.Leu168=) | dbSNP gnomAD v4 |
1 | g.45509064T>A | CA340134014 | MMACHC | c.698T>A (p.Leu233Gln) c.527T>A (p.Leu176Gln) c.503T>A (p.Leu168Gln) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45509064T>C | CA340134016 | MMACHC | c.698T>C (p.Leu233Pro) c.527T>C (p.Leu176Pro) c.503T>C (p.Leu168Pro) | |
1 | g.45509064T>G | CA340134018 | MMACHC | c.698T>G (p.Leu233Arg) c.527T>G (p.Leu176Arg) c.503T>G (p.Leu168Arg) | |
1 | g.45509064T= | CA2473783794 | MMACHC | c.698T= (p.Leu233=) c.527T= (p.Leu176=) c.503T= (p.Leu168=) | |
1 | g.45509065_45509066del | CA913075183 | MMACHC | c.699_700del (p.Leu234GlyfsTer10) c.528_529del (p.Leu177GlyfsTer10) c.504_505del (p.Leu169GlyfsTer10) | |
1 | g.45509065A= | CA1144192910 | MMACHC | c.699A= (p.Leu233=) c.528A= (p.Leu176=) c.504A= (p.Leu168=) | |
1 | g.45509065A>C | CA417881742 | MMACHC | c.699A>C (p.Leu233=) c.528A>C (p.Leu176=) c.504A>C (p.Leu168=) | |
1 | g.45509065A>G | CA827838 | MMACHC | c.699A>G (p.Leu233=) c.528A>G (p.Leu176=) c.504A>G (p.Leu168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509065A>T | CA417881743 | MMACHC | c.699A>T (p.Leu233=) c.528A>T (p.Leu176=) c.504A>T (p.Leu168=) | |
1 | g.45509065_45509066delinsAT | CA2473783795 | MMACHC | c.699_700delinsAT (p.Leu233=) c.528_529delinsAT (p.Leu176=) c.504_505delinsAT (p.Leu168=) | |
1 | g.45509066T>A | CA340134022 | MMACHC | c.700T>A (p.Leu234Met) c.529T>A (p.Leu177Met) c.505T>A (p.Leu169Met) | |
1 | g.45509066T>C | CA827840 | MMACHC | c.700T>C (p.Leu234=) c.529T>C (p.Leu177=) c.505T>C (p.Leu169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509066T>G | CA340134025 | MMACHC | c.700T>G (p.Leu234Val) c.529T>G (p.Leu177Val) c.505T>G (p.Leu169Val) | |
1 | g.45509066T= | CA1143386486 | MMACHC | c.700T= (p.Leu234=) c.529T= (p.Leu177=) c.505T= (p.Leu169=) | |
1 | g.45509067del | CA827839 | MMACHC | c.701del (p.Leu234TrpfsTer?) c.530del (p.Leu177TrpfsTer?) c.506del (p.Leu169TrpfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509067T>A | CA340134029 | MMACHC | c.701T>A (p.Leu234Ter) c.530T>A (p.Leu177Ter) c.506T>A (p.Leu169Ter) | |
1 | g.45509067T>C | CA827841 | MMACHC | c.701T>C (p.Leu234Ser) c.530T>C (p.Leu177Ser) c.506T>C (p.Leu169Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45509067T>G | CA340134031 | MMACHC | c.701T>G (p.Leu234Trp) c.530T>G (p.Leu177Trp) c.506T>G (p.Leu169Trp) | |
1 | g.45509067T= | CA2473783796 | MMACHC | c.701T= (p.Leu234=) c.530T= (p.Leu177=) c.506T= (p.Leu169=) | |
1 | g.45509068G>A | CA417881744 | MMACHC | c.702G>A (p.Leu234=) c.531G>A (p.Leu177=) c.507G>A (p.Leu169=) | gnomAD v4 |
1 | g.45509068G>C | CA340134034 | MMACHC | c.702G>C (p.Leu234Phe) c.531G>C (p.Leu177Phe) c.507G>C (p.Leu169Phe) | |
1 | g.45509068G>T | CA340134036 | MMACHC | c.702G>T (p.Leu234Phe) c.531G>T (p.Leu177Phe) c.507G>T (p.Leu169Phe) | |
1 | g.45509069G>A | CA340134037 | MMACHC | c.703G>A (p.Gly235Ser) c.532G>A (p.Gly178Ser) c.508G>A (p.Gly170Ser) | dbSNP |
1 | g.45509069G>C | CA340134039 | MMACHC | c.703G>C (p.Gly235Arg) c.532G>C (p.Gly178Arg) c.508G>C (p.Gly170Arg) | |
1 | g.45509069G= | CA1143699884 | MMACHC | c.703G= (p.Gly235=) c.532G= (p.Gly178=) c.508G= (p.Gly170=) | |
1 | g.45509069G>T | CA827842 | MMACHC | c.703G>T (p.Gly235Cys) c.532G>T (p.Gly178Cys) c.508G>T (p.Gly170Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45509070G>A | CA340134045 | MMACHC | c.704G>A (p.Gly235Asp) c.533G>A (p.Gly178Asp) c.509G>A (p.Gly170Asp) | |
1 | g.45509070G>C | CA340134043 | MMACHC | c.704G>C (p.Gly235Ala) c.533G>C (p.Gly178Ala) c.509G>C (p.Gly170Ala) | |
1 | g.45509070G>T | CA340134042 | MMACHC | c.704G>T (p.Gly235Val) c.533G>T (p.Gly178Val) c.509G>T (p.Gly170Val) | |
1 | g.45509071C>A | CA417881745 | MMACHC | c.705C>A (p.Gly235=) c.534C>A (p.Gly178=) c.510C>A (p.Gly170=) | |
1 | g.45509071C>G | CA417881746 | MMACHC | c.705C>G (p.Gly235=) c.534C>G (p.Gly178=) c.510C>G (p.Gly170=) | |
1 | g.45509071C>T | CA417881747 | MMACHC | c.705C>T (p.Gly235=) c.534C>T (p.Gly178=) c.510C>T (p.Gly170=) | |
1 | g.45509072T>A | CA340134046 | MMACHC | c.706T>A (p.Leu236Met) c.535T>A (p.Leu179Met) c.511T>A (p.Leu171Met) | |
1 | g.45509072T>C | CA417881748 | MMACHC | c.706T>C (p.Leu236=) c.535T>C (p.Leu179=) c.511T>C (p.Leu171=) | |
1 | g.45509072T>G | CA340134048 | MMACHC | c.706T>G (p.Leu236Val) c.535T>G (p.Leu179Val) c.511T>G (p.Leu171Val) | |
1 | g.45509073T>A | CA340134049 | MMACHC | c.707T>A (p.Leu236Ter) c.536T>A (p.Leu179Ter) c.512T>A (p.Leu171Ter) | |
1 | g.45509073T>C | CA340134051 | MMACHC | c.707T>C (p.Leu236Ser) c.536T>C (p.Leu179Ser) c.512T>C (p.Leu171Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509073T>G | CA340134053 | MMACHC | c.707T>G (p.Leu236Trp) c.536T>G (p.Leu179Trp) c.512T>G (p.Leu171Trp) | |
1 | g.45509073T= | CA2473783797 | MMACHC | c.707T= (p.Leu236=) c.536T= (p.Leu179=) c.512T= (p.Leu171=) | |
1 | g.45509074G>A | CA417881749 | MMACHC | c.708G>A (p.Leu236=) c.537G>A (p.Leu179=) c.513G>A (p.Leu171=) | ClinVar |
1 | g.45509074G>C | CA340134055 | MMACHC | c.708G>C (p.Leu236Phe) c.537G>C (p.Leu179Phe) c.513G>C (p.Leu171Phe) | |
1 | g.45509074G>T | CA340134057 | MMACHC | c.708G>T (p.Leu236Phe) c.537G>T (p.Leu179Phe) c.513G>T (p.Leu171Phe) | |
1 | g.45509075G>A | CA340134059 | MMACHC | c.709G>A (p.Ala237Thr) c.538G>A (p.Ala180Thr) c.514G>A (p.Ala172Thr) | gnomAD v4 |
1 | g.45509075G>C | CA340134061 | MMACHC | c.709G>C (p.Ala237Pro) c.538G>C (p.Ala180Pro) c.514G>C (p.Ala172Pro) | |
1 | g.45509075G>T | CA340134062 | MMACHC | c.709G>T (p.Ala237Ser) c.538G>T (p.Ala180Ser) c.514G>T (p.Ala172Ser) | |
1 | g.45509076C>A | CA340134064 | MMACHC | c.710C>A (p.Ala237Asp) c.539C>A (p.Ala180Asp) c.515C>A (p.Ala172Asp) | |
1 | g.45509076C>G | CA340134066 | MMACHC | c.710C>G (p.Ala237Gly) c.539C>G (p.Ala180Gly) c.515C>G (p.Ala172Gly) | |
1 | g.45509076C>T | CA340134068 | MMACHC | c.710C>T (p.Ala237Val) c.539C>T (p.Ala180Val) c.515C>T (p.Ala172Val) | |
1 | g.45509077T>A | CA417881750 | MMACHC | c.711T>A (p.Ala237=) c.540T>A (p.Ala180=) c.516T>A (p.Ala172=) | |
1 | g.45509077T>C | CA417881751 | MMACHC | c.711T>C (p.Ala237=) c.540T>C (p.Ala180=) c.516T>C (p.Ala172=) | dbSNP |
1 | g.45509077T>G | CA417881752 | MMACHC | c.711T>G (p.Ala237=) c.540T>G (p.Ala180=) c.516T>G (p.Ala172=) | |
1 | g.45509077T= | CA2473783798 | MMACHC | c.711T= (p.Ala237=) c.540T= (p.Ala180=) c.516T= (p.Ala172=) | |
1 | g.45509078C>A | CA340134069 | MMACHC | c.712C>A (p.Gln238Lys) c.541C>A (p.Gln181Lys) c.517C>A (p.Gln173Lys) | |
1 | g.45509078C= | CA2473783799 | MMACHC | c.712C= (p.Gln238=) c.541C= (p.Gln181=) c.517C= (p.Gln173=) | |
1 | g.45509078C>G | CA340134072 | MMACHC | c.712C>G (p.Gln238Glu) c.541C>G (p.Gln181Glu) c.517C>G (p.Gln173Glu) | |
1 | g.45509078C>T | CA827843 | MMACHC | c.712C>T (p.Gln238Ter) c.541C>T (p.Gln181Ter) c.517C>T (p.Gln173Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45509079A>C | CA340134075 | MMACHC | c.713A>C (p.Gln238Pro) c.542A>C (p.Gln181Pro) c.518A>C (p.Gln173Pro) | |
1 | g.45509079A>G | CA340134076 | MMACHC | c.713A>G (p.Gln238Arg) c.542A>G (p.Gln181Arg) c.518A>G (p.Gln173Arg) | |
1 | g.45509079A>T | CA340134078 | MMACHC | c.713A>T (p.Gln238Leu) c.542A>T (p.Gln181Leu) c.518A>T (p.Gln173Leu) | |
1 | g.45509083_45509094del | CA2580062915 | MMACHC | c.717_728del (p.Ser240_Pro243del) c.546_557del (p.Ser183_Pro186del) c.522_533del (p.Ser175_Pro178del) | ClinVar |
1 | g.45509080G>A | CA417881753 | MMACHC | c.714G>A (p.Gln238=) c.543G>A (p.Gln181=) c.519G>A (p.Gln173=) | gnomAD v4 |
1 | g.45509080G>C | CA340134081 | MMACHC | c.714G>C (p.Gln238His) c.543G>C (p.Gln181His) c.519G>C (p.Gln173His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45509080G= | CA2473783800 | MMACHC | c.714G= (p.Gln238=) c.543G= (p.Gln181=) c.519G= (p.Gln173=) | |
1 | g.45509080G>T | CA340134082 | MMACHC | c.714G>T (p.Gln238His) c.543G>T (p.Gln181His) c.519G>T (p.Gln173His) | |
1 | g.45509081C>A | CA340134085 | MMACHC | c.715C>A (p.Pro239Thr) c.544C>A (p.Pro182Thr) c.520C>A (p.Pro174Thr) | |
1 | g.45509081C>G | CA340134087 | MMACHC | c.715C>G (p.Pro239Ala) c.544C>G (p.Pro182Ala) c.520C>G (p.Pro174Ala) | |
1 | g.45509081C>T | CA340134089 | MMACHC | c.715C>T (p.Pro239Ser) c.544C>T (p.Pro182Ser) c.520C>T (p.Pro174Ser) | |
1 | g.45509082C>A | CA340134091 | MMACHC | c.716C>A (p.Pro239His) c.545C>A (p.Pro182His) c.521C>A (p.Pro174His) | |
1 | g.45509082C= | CA2473783801 | MMACHC | c.716C= (p.Pro239=) c.545C= (p.Pro182=) c.521C= (p.Pro174=) | |
1 | g.45509082C>G | CA340134093 | MMACHC | c.716C>G (p.Pro239Arg) c.545C>G (p.Pro182Arg) c.521C>G (p.Pro174Arg) | |
1 | g.45509082C>T | CA340134095 | MMACHC | c.716C>T (p.Pro239Leu) c.545C>T (p.Pro182Leu) c.521C>T (p.Pro174Leu) | dbSNP gnomAD v4 |
1 | g.45509083C>A | CA417881754 | MMACHC | c.717C>A (p.Pro239=) c.546C>A (p.Pro182=) c.522C>A (p.Pro174=) | dbSNP |
1 | g.45509083C= | CA2473783802 | MMACHC | c.717C= (p.Pro239=) c.546C= (p.Pro182=) c.522C= (p.Pro174=) | |
1 | g.45509083C>G | CA417881755 | MMACHC | c.717C>G (p.Pro239=) c.546C>G (p.Pro182=) c.522C>G (p.Pro174=) | |
1 | g.45509083C>T | CA417881756 | MMACHC | c.717C>T (p.Pro239=) c.546C>T (p.Pro182=) c.522C>T (p.Pro174=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45509084T>A | CA340134099 | MMACHC | c.718T>A (p.Ser240Thr) c.547T>A (p.Ser183Thr) c.523T>A (p.Ser175Thr) | dbSNP |
1 | g.45509084T>C | CA340134100 | MMACHC | c.718T>C (p.Ser240Pro) c.547T>C (p.Ser183Pro) c.523T>C (p.Ser175Pro) | |
1 | g.45509084T>G | CA340134097 | MMACHC | c.718T>G (p.Ser240Ala) c.547T>G (p.Ser183Ala) c.523T>G (p.Ser175Ala) | |
1 | g.45509085C>A | CA340134105 | MMACHC | c.719C>A (p.Ser240Ter) c.548C>A (p.Ser183Ter) c.524C>A (p.Ser175Ter) | |
1 | g.45509085C>G | CA340134101 | MMACHC | c.719C>G (p.Ser240Ter) c.548C>G (p.Ser183Ter) c.524C>G (p.Ser175Ter) | |
1 | g.45509085C>T | CA340134103 | MMACHC | c.719C>T (p.Ser240Leu) c.548C>T (p.Ser183Leu) c.524C>T (p.Ser175Leu) | |
1 | g.45509086A= | CA2473783803 | MMACHC | c.720A= (p.Ser240=) c.549A= (p.Ser183=) c.525A= (p.Ser175=) | |
1 | g.45509086A>C | CA417881757 | MMACHC | c.720A>C (p.Ser240=) c.549A>C (p.Ser183=) c.525A>C (p.Ser175=) | |
1 | g.45509086A>G | CA827844 | MMACHC | c.720A>G (p.Ser240=) c.549A>G (p.Ser183=) c.525A>G (p.Ser175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45509086A>T | CA417881758 | MMACHC | c.720A>T (p.Ser240=) c.549A>T (p.Ser183=) c.525A>T (p.Ser175=) | |
1 | g.45509086dup | CA2645391264 | MMACHC | c.720dup (p.Glu241ArgfsTer4) c.549dup (p.Glu184ArgfsTer4) c.525dup (p.Glu176ArgfsTer4) | ClinVar gnomAD v4 |