Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.45508982dup | CA913075181 | MMACHC | c.616dup (p.Arg206ProfsTer?) c.445dup (p.Arg149ProfsTer?) c.421dup (p.Arg141ProfsTer?) | |
1 | g.45508982del | CA736191791 | MMACHC | c.616del (p.Arg206GlyfsTer4) c.445del (p.Arg149GlyfsTer4) c.421del (p.Arg141GlyfsTer4) | ClinVar dbSNP |
1 | g.45508982C>A | CA417881514 | MMACHC | c.616C>A (p.Arg206=) c.445C>A (p.Arg149=) c.421C>A (p.Arg141=) | |
1 | g.45508982C= | CA1145055217 | MMACHC | c.616C= (p.Arg206=) c.445C= (p.Arg149=) c.421C= (p.Arg141=) | |
1 | g.45508982C>G | CA21829803 | MMACHC | c.616C>G (p.Arg206Gly) c.445C>G (p.Arg149Gly) c.421C>G (p.Arg141Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508982C>T | CA312738 | MMACHC | c.616C>T (p.Arg206Trp) c.445C>T (p.Arg149Trp) c.421C>T (p.Arg141Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508983G>A | CA827810 | MMACHC | c.617G>A (p.Arg206Gln) c.446G>A (p.Arg149Gln) c.422G>A (p.Arg141Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508983G>C | CA340133696 | MMACHC | c.617G>C (p.Arg206Pro) c.446G>C (p.Arg149Pro) c.422G>C (p.Arg141Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508983G= | CA1143816489 | MMACHC | c.617G= (p.Arg206=) c.446G= (p.Arg149=) c.422G= (p.Arg141=) | |
1 | g.45508983G>T | CA340133698 | MMACHC | c.617G>T (p.Arg206Leu) c.446G>T (p.Arg149Leu) c.422G>T (p.Arg141Leu) | |
1 | g.45508985dup | CA827809 | MMACHC | c.619dup (p.Asp207GlyfsTer?) c.448dup (p.Asp150GlyfsTer?) c.424dup (p.Asp142GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508985del | CA2573132354 | MMACHC | c.619del (p.Asp207MetfsTer3) c.448del (p.Asp150MetfsTer3) c.424del (p.Asp142MetfsTer3) | ClinVar dbSNP |
1 | g.45508984G>A | CA417881520 | MMACHC | c.618G>A (p.Arg206=) c.447G>A (p.Arg149=) c.423G>A (p.Arg141=) | ClinVar dbSNP gnomAD v4 |
1 | g.45508984G>C | CA417881517 | MMACHC | c.618G>C (p.Arg206=) c.447G>C (p.Arg149=) c.423G>C (p.Arg141=) | |
1 | g.45508984G= | CA2473783751 | MMACHC | c.618G= (p.Arg206=) c.447G= (p.Arg149=) c.423G= (p.Arg141=) | |
1 | g.45508984G>T | CA417881516 | MMACHC | c.618G>T (p.Arg206=) c.447G>T (p.Arg149=) c.423G>T (p.Arg141=) | |
1 | g.45508985G>A | CA340133700 | MMACHC | c.619G>A (p.Asp207Asn) c.448G>A (p.Asp150Asn) c.424G>A (p.Asp142Asn) | gnomAD v4 |
1 | g.45508985G>C | CA21829811 | MMACHC | c.619G>C (p.Asp207His) c.448G>C (p.Asp150His) c.424G>C (p.Asp142His) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508985G= | CA2473783752 | MMACHC | c.619G= (p.Asp207=) c.448G= (p.Asp150=) c.424G= (p.Asp142=) | |
1 | g.45508985G>T | CA340133701 | MMACHC | c.619G>T (p.Asp207Tyr) c.448G>T (p.Asp150Tyr) c.424G>T (p.Asp142Tyr) | |
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=) |