Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.45508323_45508325del | CA312739 | MMACHC | c.388_390del (p.Tyr130del) c.217_219del (p.Tyr73del) c.193_195del (p.Tyr65del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508323T>A | CA340132360 | MMACHC | c.388T>A (p.Tyr130Asn) c.217T>A (p.Tyr73Asn) c.193T>A (p.Tyr65Asn) | |
1 | g.45508323T>C | CA827720 | MMACHC | c.388T>C (p.Tyr130His) c.217T>C (p.Tyr73His) c.193T>C (p.Tyr65His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508323T>G | CA340132365 | MMACHC | c.388T>G (p.Tyr130Asp) c.217T>G (p.Tyr73Asp) c.193T>G (p.Tyr65Asp) | |
1 | g.45508323T= | CA1143876814 | MMACHC | c.388T= (p.Tyr130=) c.217T= (p.Tyr73=) c.193T= (p.Tyr65=) | |
1 | g.45508323_45508326delinsTACC | CA2473783393 | MMACHC | c.388_391delinsTACC (p.Tyr130=) c.217_220delinsTACC (p.Tyr73=) c.193_196delinsTACC (p.Tyr65=) | |
1 | g.45508324A= | CA1143395024 | MMACHC | c.389A= (p.Tyr130=) c.218A= (p.Tyr73=) c.194A= (p.Tyr65=) | |
1 | g.45508324A>C | CA340132368 | MMACHC | c.389A>C (p.Tyr130Ser) c.218A>C (p.Tyr73Ser) c.194A>C (p.Tyr65Ser) | |
1 | g.45508324A>G | CA827721 | MMACHC | c.389A>G (p.Tyr130Cys) c.218A>G (p.Tyr73Cys) c.194A>G (p.Tyr65Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508324A>T | CA340132370 | MMACHC | c.389A>T (p.Tyr130Phe) c.218A>T (p.Tyr73Phe) c.194A>T (p.Tyr65Phe) | |
1 | g.45508325_45508327del | CA2473783394 | MMACHC | c.390_392del (p.Tyr130Ter) c.219_221del (p.Tyr73Ter) c.195_197del (p.Tyr65Ter) | dbSNP |
1 | g.45508326_45508329del | CA913075167 | MMACHC | c.391_394del (p.Gln131AspfsTer?) c.220_223del (p.Gln74AspfsTer?) c.196_199del (p.Gln66AspfsTer?) | |
1 | g.45508325C>A | CA340132372 | MMACHC | c.390C>A (p.Tyr130Ter) c.219C>A (p.Tyr73Ter) c.195C>A (p.Tyr65Ter) | |
1 | g.45508325C>G | CA340132374 | MMACHC | c.390C>G (p.Tyr130Ter) c.219C>G (p.Tyr73Ter) c.195C>G (p.Tyr65Ter) | |
1 | g.45508325C>T | CA417705566 | MMACHC | c.390C>T (p.Tyr130=) c.219C>T (p.Tyr73=) c.195C>T (p.Tyr65=) | gnomAD v4 |
1 | g.45508325_45508328delinsCCAA | CA2473783395 | MMACHC | c.390_393delinsCCAA (p.Tyr130=) c.219_222delinsCCAA (p.Tyr73=) c.195_198delinsCCAA (p.Tyr65=) | |
1 | g.45508326C>A | CA340132384 | MMACHC | c.391C>A (p.Gln131Lys) c.220C>A (p.Gln74Lys) c.196C>A (p.Gln66Lys) | |
1 | g.45508326C= | CA2473783396 | MMACHC | c.391C= (p.Gln131=) c.220C= (p.Gln74=) c.196C= (p.Gln66=) | |
1 | g.45508326C>G | CA340132381 | MMACHC | c.391C>G (p.Gln131Glu) c.220C>G (p.Gln74Glu) c.196C>G (p.Gln66Glu) | gnomAD v4 |
1 | g.45508326C>T | CA340132378 | MMACHC | c.391C>T (p.Gln131Ter) c.220C>T (p.Gln74Ter) c.196C>T (p.Gln66Ter) | ClinVar dbSNP |
1 | g.45508327_45508329del | CA827722 | MMACHC | c.392_394del (p.Gln131del) c.221_223del (p.Gln74del) c.197_199del (p.Gln66del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508327A>C | CA340132388 | MMACHC | c.392A>C (p.Gln131Pro) c.221A>C (p.Gln74Pro) c.197A>C (p.Gln66Pro) | |
1 | g.45508327A>G | CA340132390 | MMACHC | c.392A>G (p.Gln131Arg) c.221A>G (p.Gln74Arg) c.197A>G (p.Gln66Arg) | gnomAD v4 |
1 | g.45508327A>T | CA340132393 | MMACHC | c.392A>T (p.Gln131Leu) c.221A>T (p.Gln74Leu) c.197A>T (p.Gln66Leu) | |
1 | g.45508328dup | CA1001243781 | MMACHC | c.393dup (p.Arg132ThrfsTer7) c.222dup (p.Arg75ThrfsTer7) c.198dup (p.Arg67ThrfsTer7) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508327_45508330delinsAACG | CA2473783397 | MMACHC | c.392_395delinsAACG (p.Gln131=) c.221_224delinsAACG (p.Gln74=) c.197_200delinsAACG (p.Gln66=) | |
1 | g.45508328_45508331del | CA913075168 | MMACHC | c.393_396del (p.Gln131HisfsTer?) c.222_225del (p.Gln74HisfsTer?) c.198_201del (p.Gln66HisfsTer?) | |
1 | g.45508328A>C | CA340132396 | MMACHC | c.393A>C (p.Gln131His) c.222A>C (p.Gln74His) c.198A>C (p.Gln66His) | ClinVar dbSNP |
1 | g.45508328A>G | CA417705570 | MMACHC | c.393A>G (p.Gln131=) c.222A>G (p.Gln74=) c.198A>G (p.Gln66=) | |
1 | g.45508328A>T | CA340132397 | MMACHC | c.393A>T (p.Gln131His) c.222A>T (p.Gln74His) c.198A>T (p.Gln66His) | |
1 | g.45508330_45508332del | CA522810655 | MMACHC | c.395_397del (p.Arg132del) c.224_226del (p.Arg75del) c.200_202del (p.Arg67del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.45508329C>A | CA827723 | MMACHC | c.394C>A (p.Arg132=) c.223C>A (p.Arg75=) c.199C>A (p.Arg67=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508329C= | CA1141580770 | MMACHC | c.394C= (p.Arg132=) c.223C= (p.Arg75=) c.199C= (p.Arg67=) | |
1 | g.45508329C>G | CA340132400 | MMACHC | c.394C>G (p.Arg132Gly) c.223C>G (p.Arg75Gly) c.199C>G (p.Arg67Gly) | |
1 | g.45508329C>T | CA251787 | MMACHC | c.394C>T (p.Arg132Ter) c.223C>T (p.Arg75Ter) c.199C>T (p.Arg67Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508330G>A | CA827724 | MMACHC | c.395G>A (p.Arg132Gln) c.224G>A (p.Arg75Gln) c.200G>A (p.Arg67Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508330G>C | CA827725 | MMACHC | c.395G>C (p.Arg132Pro) c.224G>C (p.Arg75Pro) c.200G>C (p.Arg67Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508330G= | CA1143656455 | MMACHC | c.395G= (p.Arg132=) c.224G= (p.Arg75=) c.200G= (p.Arg67=) | |
1 | g.45508330G>T | CA340132409 | MMACHC | c.395G>T (p.Arg132Leu) c.224G>T (p.Arg75Leu) c.200G>T (p.Arg67Leu) | dbSNP |
1 | g.45508331A= | CA2473783398 | MMACHC | c.396A= (p.Arg132=) c.225A= (p.Arg75=) c.201A= (p.Arg67=) | |
1 | g.45508331A>C | CA417705575 | MMACHC | c.396A>C (p.Arg132=) c.225A>C (p.Arg75=) c.201A>C (p.Arg67=) | |
1 | g.45508331A>G | CA417705573 | MMACHC | c.396A>G (p.Arg132=) c.225A>G (p.Arg75=) c.201A>G (p.Arg67=) | dbSNP COSMIC |
1 | g.45508331A>T | CA417705574 | MMACHC | c.396A>T (p.Arg132=) c.225A>T (p.Arg75=) c.201A>T (p.Arg67=) | |
1 | g.45508332_45508334del | CA913075169 | MMACHC | c.397_399del (p.Gln133del) c.226_228del (p.Gln76del) c.202_204del (p.Gln68del) | |
1 | g.45508332C>A | CA340132417 | MMACHC | c.397C>A (p.Gln133Lys) c.226C>A (p.Gln76Lys) c.202C>A (p.Gln68Lys) | gnomAD v4 |
1 | g.45508332C>G | CA340132415 | MMACHC | c.397C>G (p.Gln133Glu) c.226C>G (p.Gln76Glu) c.202C>G (p.Gln68Glu) | |
1 | g.45508332C>T | CA340132413 | MMACHC | c.397C>T (p.Gln133Ter) c.226C>T (p.Gln76Ter) c.202C>T (p.Gln68Ter) | |
1 | g.45508332_45508334delinsCAA | CA2473783399 | MMACHC | c.397_399delinsCAA (p.Gln133=) c.226_228delinsCAA (p.Gln76=) c.202_204delinsCAA (p.Gln68=) | |
1 | g.45508333A>C | CA340132419 | MMACHC | c.398A>C (p.Gln133Pro) c.227A>C (p.Gln76Pro) c.203A>C (p.Gln68Pro) | |
1 | g.45508333A>G | CA340132422 | MMACHC | c.398A>G (p.Gln133Arg) c.227A>G (p.Gln76Arg) c.203A>G (p.Gln68Arg) | |
1 | g.45508333A>T | CA340132424 | MMACHC | c.398A>T (p.Gln133Leu) c.227A>T (p.Gln76Leu) c.203A>T (p.Gln68Leu) | |
1 | g.45508333_45508334del | CA827726 | MMACHC | c.398_399del (p.Gln133ArgfsTer5) c.227_228del (p.Gln76ArgfsTer5) c.203_204del (p.Gln68ArgfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508333_45508334delinsAA | CA1148287922 | MMACHC | c.398_399delinsAA (p.Gln133=) c.227_228delinsAA (p.Gln76=) c.203_204delinsAA (p.Gln68=) | |
1 | g.45508334A>C | CA340132426 | MMACHC | c.399A>C (p.Gln133His) c.228A>C (p.Gln76His) c.204A>C (p.Gln68His) | |
1 | g.45508334A>G | CA417705581 | MMACHC | c.399A>G (p.Gln133=) c.228A>G (p.Gln76=) c.204A>G (p.Gln68=) | |
1 | g.45508334A>T | CA340132427 | MMACHC | c.399A>T (p.Gln133His) c.228A>T (p.Gln76His) c.204A>T (p.Gln68His) | |
1 | g.45508335G>A | CA340132428 | MMACHC | c.400G>A (p.Asp134Asn) c.229G>A (p.Asp77Asn) c.205G>A (p.Asp69Asn) | |
1 | g.45508335G>C | CA340132429 | MMACHC | c.400G>C (p.Asp134His) c.229G>C (p.Asp77His) c.205G>C (p.Asp69His) | |
1 | g.45508335G>T | CA340132430 | MMACHC | c.400G>T (p.Asp134Tyr) c.229G>T (p.Asp77Tyr) c.205G>T (p.Asp69Tyr) | |
1 | g.45508336A>C | CA340132433 | MMACHC | c.401A>C (p.Asp134Ala) c.230A>C (p.Asp77Ala) c.206A>C (p.Asp69Ala) | |
1 | g.45508336A>G | CA340132432 | MMACHC | c.401A>G (p.Asp134Gly) c.230A>G (p.Asp77Gly) c.206A>G (p.Asp69Gly) | |
1 | g.45508336A>T | CA340132431 | MMACHC | c.401A>T (p.Asp134Val) c.230A>T (p.Asp77Val) c.206A>T (p.Asp69Val) | |
1 | g.45508337T>A | CA340132434 | MMACHC | c.402T>A (p.Asp134Glu) c.231T>A (p.Asp77Glu) c.207T>A (p.Asp69Glu) | |
1 | g.45508337T>C | CA827727 | MMACHC | c.402T>C (p.Asp134=) c.231T>C (p.Asp77=) c.207T>C (p.Asp69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508337T>G | CA340132435 | MMACHC | c.402T>G (p.Asp134Glu) c.231T>G (p.Asp77Glu) c.207T>G (p.Asp69Glu) | |
1 | g.45508337T= | CA2473783400 | MMACHC | c.402T= (p.Asp134=) c.231T= (p.Asp77=) c.207T= (p.Asp69=) | |
1 | g.45508338G>A | CA340132436 | MMACHC | c.403G>A (p.Val135Met) c.232G>A (p.Val78Met) c.208G>A (p.Val70Met) | dbSNP gnomAD v4 |
1 | g.45508338G>C | CA340132437 | MMACHC | c.403G>C (p.Val135Leu) c.232G>C (p.Val78Leu) c.208G>C (p.Val70Leu) | |
1 | g.45508338G= | CA2473783401 | MMACHC | c.403G= (p.Val135=) c.232G= (p.Val78=) c.208G= (p.Val70=) | |
1 | g.45508338G>T | CA10610331 | MMACHC | c.403G>T (p.Val135Leu) c.232G>T (p.Val78Leu) c.208G>T (p.Val70Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508339T>A | CA340132438 | MMACHC | c.404T>A (p.Val135Glu) c.233T>A (p.Val78Glu) c.209T>A (p.Val70Glu) | |
1 | g.45508339T>C | CA340132440 | MMACHC | c.404T>C (p.Val135Ala) c.233T>C (p.Val78Ala) c.209T>C (p.Val70Ala) | |
1 | g.45508339T>G | CA340132439 | MMACHC | c.404T>G (p.Val135Gly) c.233T>G (p.Val78Gly) c.209T>G (p.Val70Gly) | |
1 | g.45508340G>A | CA417705604 | MMACHC | c.405G>A (p.Val135=) c.234G>A (p.Val78=) c.210G>A (p.Val70=) | ClinVar gnomAD v4 |
1 | g.45508340G>C | CA417705607 | MMACHC | c.405G>C (p.Val135=) c.234G>C (p.Val78=) c.210G>C (p.Val70=) | |
1 | g.45508340G>T | CA417705609 | MMACHC | c.405G>T (p.Val135=) c.234G>T (p.Val78=) c.210G>T (p.Val70=) | |
1 | g.45508341G>A | CA827728 | MMACHC | c.406G>A (p.Glu136Lys) c.235G>A (p.Glu79Lys) c.211G>A (p.Glu71Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508341G>C | CA340132441 | MMACHC | c.406G>C (p.Glu136Gln) c.235G>C (p.Glu79Gln) c.211G>C (p.Glu71Gln) | |
1 | g.45508341G= | CA1143970656 | MMACHC | c.406G= (p.Glu136=) c.235G= (p.Glu79=) c.211G= (p.Glu71=) | |
1 | g.45508341G>T | CA340132442 | MMACHC | c.406G>T (p.Glu136Ter) c.235G>T (p.Glu79Ter) c.211G>T (p.Glu71Ter) | |
1 | g.45508342A>C | CA340132443 | MMACHC | c.407A>C (p.Glu136Ala) c.236A>C (p.Glu79Ala) c.212A>C (p.Glu71Ala) | |
1 | g.45508342A>G | CA340132444 | MMACHC | c.407A>G (p.Glu136Gly) c.236A>G (p.Glu79Gly) c.212A>G (p.Glu71Gly) | |
1 | g.45508342A>T | CA340132445 | MMACHC | c.407A>T (p.Glu136Val) c.236A>T (p.Glu79Val) c.212A>T (p.Glu71Val) | |
1 | g.45508343G>A | CA417705617 | MMACHC | c.408G>A (p.Glu136=) c.237G>A (p.Glu79=) c.213G>A (p.Glu71=) | |
1 | g.45508343G>C | CA340132446 | MMACHC | c.408G>C (p.Glu136Asp) c.237G>C (p.Glu79Asp) c.213G>C (p.Glu71Asp) | |
1 | g.45508343G>T | CA340132447 | MMACHC | c.408G>T (p.Glu136Asp) c.237G>T (p.Glu79Asp) c.213G>T (p.Glu71Asp) | |
1 | g.45508344G>A | CA21829364 | MMACHC | c.409G>A (p.Ala137Thr) c.238G>A (p.Ala80Thr) c.214G>A (p.Ala72Thr) | dbSNP |
1 | g.45508344G>C | CA340132448 | MMACHC | c.409G>C (p.Ala137Pro) c.238G>C (p.Ala80Pro) c.214G>C (p.Ala72Pro) | |
1 | g.45508344G= | CA2473783402 | MMACHC | c.409G= (p.Ala137=) c.238G= (p.Ala80=) c.214G= (p.Ala72=) | |
1 | g.45508344G>T | CA340132449 | MMACHC | c.409G>T (p.Ala137Ser) c.238G>T (p.Ala80Ser) c.214G>T (p.Ala72Ser) | |
1 | g.45508345C>A | CA340132450 | MMACHC | c.410C>A (p.Ala137Asp) c.239C>A (p.Ala80Asp) c.215C>A (p.Ala72Asp) | |
1 | g.45508345C>G | CA340132452 | MMACHC | c.410C>G (p.Ala137Gly) c.239C>G (p.Ala80Gly) c.215C>G (p.Ala72Gly) | |
1 | g.45508345C>T | CA340132451 | MMACHC | c.410C>T (p.Ala137Val) c.239C>T (p.Ala80Val) c.215C>T (p.Ala72Val) | |
1 | g.45508346T>A | CA417705630 | MMACHC | c.411T>A (p.Ala137=) c.240T>A (p.Ala80=) c.216T>A (p.Ala72=) | |
1 | g.45508346T>C | CA827729 | MMACHC | c.411T>C (p.Ala137=) c.240T>C (p.Ala80=) c.216T>C (p.Ala72=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508346T>G | CA417705633 | MMACHC | c.411T>G (p.Ala137=) c.240T>G (p.Ala80=) c.216T>G (p.Ala72=) | |
1 | g.45508346T= | CA2473783403 | MMACHC | c.411T= (p.Ala137=) c.240T= (p.Ala80=) c.216T= (p.Ala72=) | |
1 | g.45508347G>A | CA340132457 | MMACHC | c.412G>A (p.Asp138Asn) c.241G>A (p.Asp81Asn) c.217G>A (p.Asp73Asn) | dbSNP |
1 | g.45508347G>C | CA340132459 | MMACHC | c.412G>C (p.Asp138His) c.241G>C (p.Asp81His) c.217G>C (p.Asp73His) | |
1 | g.45508347G= | CA2473783404 | MMACHC | c.412G= (p.Asp138=) c.241G= (p.Asp81=) c.217G= (p.Asp73=) | |
1 | g.45508347G>T | CA340132461 | MMACHC | c.412G>T (p.Asp138Tyr) c.241G>T (p.Asp81Tyr) c.217G>T (p.Asp73Tyr) | gnomAD v4 |
1 | g.45508348A= | CA2473783405 | MMACHC | c.413A= (p.Asp138=) c.242A= (p.Asp81=) c.218A= (p.Asp73=) | |
1 | g.45508348A>C | CA340132465 | MMACHC | c.413A>C (p.Asp138Ala) c.242A>C (p.Asp81Ala) c.218A>C (p.Asp73Ala) | |
1 | g.45508348A>G | CA340132467 | MMACHC | c.413A>G (p.Asp138Gly) c.242A>G (p.Asp81Gly) c.218A>G (p.Asp73Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508348A>T | CA340132470 | MMACHC | c.413A>T (p.Asp138Val) c.242A>T (p.Asp81Val) c.218A>T (p.Asp73Val) | |
1 | g.45508349C>A | CA340132474 | MMACHC | c.414C>A (p.Asp138Glu) c.243C>A (p.Asp81Glu) c.219C>A (p.Asp73Glu) | |
1 | g.45508349C= | CA2473783406 | MMACHC | c.414C= (p.Asp138=) c.243C= (p.Asp81=) c.219C= (p.Asp73=) | |
1 | g.45508349C>G | CA340132476 | MMACHC | c.414C>G (p.Asp138Glu) c.243C>G (p.Asp81Glu) c.219C>G (p.Asp73Glu) | |
1 | g.45508349C>T | CA827730 | MMACHC | c.414C>T (p.Asp138=) c.243C>T (p.Asp81=) c.219C>T (p.Asp73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508350C>A | CA340132481 | MMACHC | c.415C>A (p.Pro139Thr) c.244C>A (p.Pro82Thr) c.220C>A (p.Pro74Thr) | |
1 | g.45508350C>G | CA340132483 | MMACHC | c.415C>G (p.Pro139Ala) c.244C>G (p.Pro82Ala) c.220C>G (p.Pro74Ala) | |
1 | g.45508350C>T | CA340132486 | MMACHC | c.415C>T (p.Pro139Ser) c.244C>T (p.Pro82Ser) c.220C>T (p.Pro74Ser) | |
1 | g.45508350_45508351delinsCC | CA2473783407 | MMACHC | c.415_416delinsCC (p.Pro139=) c.244_245delinsCC (p.Pro82=) c.220_221delinsCC (p.Pro74=) | |
1 | g.45508350_45508351delinsTA | CA1139656102 | MMACHC | c.415_416delinsTA (p.Pro139Ter) c.244_245delinsTA (p.Pro82Ter) c.220_221delinsTA (p.Pro74Ter) | ClinVar dbSNP |
1 | g.45508351C>A | CA340132489 | MMACHC | c.416C>A (p.Pro139Gln) c.245C>A (p.Pro82Gln) c.221C>A (p.Pro74Gln) | |
1 | g.45508351C>G | CA340132493 | MMACHC | c.416C>G (p.Pro139Arg) c.245C>G (p.Pro82Arg) c.221C>G (p.Pro74Arg) | |
1 | g.45508351C>T | CA340132491 | MMACHC | c.416C>T (p.Pro139Leu) c.245C>T (p.Pro82Leu) c.221C>T (p.Pro74Leu) | COSMIC |
1 | g.45508352A>C | CA417705652 | MMACHC | c.417A>C (p.Pro139=) c.246A>C (p.Pro82=) c.222A>C (p.Pro74=) | |
1 | g.45508352A>G | CA417705648 | MMACHC | c.417A>G (p.Pro139=) c.246A>G (p.Pro82=) c.222A>G (p.Pro74=) | |
1 | g.45508352A>T | CA417705650 | MMACHC | c.417A>T (p.Pro139=) c.246A>T (p.Pro82=) c.222A>T (p.Pro74=) | |
1 | g.45508353T>A | CA340132496 | MMACHC | c.418T>A (p.Trp140Arg) c.247T>A (p.Trp83Arg) c.223T>A (p.Trp75Arg) | |
1 | g.45508353T>C | CA340132498 | MMACHC | c.418T>C (p.Trp140Arg) c.247T>C (p.Trp83Arg) c.223T>C (p.Trp75Arg) | |
1 | g.45508353T>G | CA340132500 | MMACHC | c.418T>G (p.Trp140Gly) c.247T>G (p.Trp83Gly) c.223T>G (p.Trp75Gly) | dbSNP |
1 | g.45508353T= | CA2473783409 | MMACHC | c.418T= (p.Trp140=) c.247T= (p.Trp83=) c.223T= (p.Trp75=) | |
1 | g.45508353_45508354delinsTG | CA2473783408 | MMACHC | c.418_419delinsTG (p.Trp140=) c.247_248delinsTG (p.Trp83=) c.223_224delinsTG (p.Trp75=) | |
1 | g.45508354G>A | CA340132502 | MMACHC | c.419G>A (p.Trp140Ter) c.248G>A (p.Trp83Ter) c.224G>A (p.Trp75Ter) | ClinVar dbSNP |
1 | g.45508354G>C | CA340132504 | MMACHC | c.419G>C (p.Trp140Ser) c.248G>C (p.Trp83Ser) c.224G>C (p.Trp75Ser) | |
1 | g.45508354G>T | CA340132506 | MMACHC | c.419G>T (p.Trp140Leu) c.248G>T (p.Trp83Leu) c.224G>T (p.Trp75Leu) | |
1 | g.45508358dup | CA2743432286 | MMACHC | c.423dup (p.Asn142GlufsTer?) c.252dup (p.Asn85GlufsTer?) c.228dup (p.Asn77GlufsTer?) | |
1 | g.45508358del | CA2473783410 | MMACHC | c.423del (p.Asn142ThrfsTer22) c.252del (p.Asn85ThrfsTer22) c.228del (p.Asn77ThrfsTer22) | dbSNP |
1 | g.45508355G>A | CA275943 | MMACHC | c.420G>A (p.Trp140Ter) c.249G>A (p.Trp83Ter) c.225G>A (p.Trp75Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508355G>C | CA340132509 | MMACHC | c.420G>C (p.Trp140Cys) c.249G>C (p.Trp83Cys) c.225G>C (p.Trp75Cys) | |
1 | g.45508355G= | CA2473783411 | MMACHC | c.420G= (p.Trp140=) c.249G= (p.Trp83=) c.225G= (p.Trp75=) | |
1 | g.45508355G>T | CA340132510 | MMACHC | c.420G>T (p.Trp140Cys) c.249G>T (p.Trp83Cys) c.225G>T (p.Trp75Cys) | |
1 | g.45508356G>A | CA340132516 | MMACHC | c.421G>A (p.Gly141Arg) c.250G>A (p.Gly84Arg) c.226G>A (p.Gly76Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508356G>C | CA340132514 | MMACHC | c.421G>C (p.Gly141Arg) c.250G>C (p.Gly84Arg) c.226G>C (p.Gly76Arg) | |
1 | g.45508356G= | CA2473783412 | MMACHC | c.421G= (p.Gly141=) c.250G= (p.Gly84=) c.226G= (p.Gly76=) | |
1 | g.45508356G>T | CA340132511 | MMACHC | c.421G>T (p.Gly141Trp) c.250G>T (p.Gly84Trp) c.226G>T (p.Gly76Trp) | |
1 | g.45508357G>A | CA827731 | MMACHC | c.422G>A (p.Gly141Glu) c.251G>A (p.Gly84Glu) c.227G>A (p.Gly76Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508357G>C | CA340132524 | MMACHC | c.422G>C (p.Gly141Ala) c.251G>C (p.Gly84Ala) c.227G>C (p.Gly76Ala) | |
1 | g.45508357G= | CA2473783413 | MMACHC | c.422G= (p.Gly141=) c.251G= (p.Gly84=) c.227G= (p.Gly76=) | |
1 | g.45508357G>T | CA340132522 | MMACHC | c.422G>T (p.Gly141Val) c.251G>T (p.Gly84Val) c.227G>T (p.Gly76Val) | gnomAD v4 |
1 | g.45508358G>A | CA417705682 | MMACHC | c.423G>A (p.Gly141=) c.252G>A (p.Gly84=) c.228G>A (p.Gly76=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508358G>C | CA21829375 | MMACHC | c.423G>C (p.Gly141=) c.252G>C (p.Gly84=) c.228G>C (p.Gly76=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508358G= | CA2473783414 | MMACHC | c.423G= (p.Gly141=) c.252G= (p.Gly84=) c.228G= (p.Gly76=) | |
1 | g.45508358G>T | CA417705680 | MMACHC | c.423G>T (p.Gly141=) c.252G>T (p.Gly84=) c.228G>T (p.Gly76=) | ClinVar gnomAD v4 |
1 | g.45508359A>C | CA340132526 | MMACHC | c.424A>C (p.Asn142His) c.253A>C (p.Asn85His) c.229A>C (p.Asn77His) | |
1 | g.45508359A>G | CA340132529 | MMACHC | c.424A>G (p.Asn142Asp) c.253A>G (p.Asn85Asp) c.229A>G (p.Asn77Asp) | |
1 | g.45508359A>T | CA340132531 | MMACHC | c.424A>T (p.Asn142Tyr) c.253A>T (p.Asn85Tyr) c.229A>T (p.Asn77Tyr) | |
1 | g.45508360A= | CA1144208703 | MMACHC | c.425A= (p.Asn142=) c.254A= (p.Asn85=) c.230A= (p.Asn77=) | |
1 | g.45508360A>C | CA340132534 | MMACHC | c.425A>C (p.Asn142Thr) c.254A>C (p.Asn85Thr) c.230A>C (p.Asn77Thr) | |
1 | g.45508360A>G | CA827732 | MMACHC | c.425A>G (p.Asn142Ser) c.254A>G (p.Asn85Ser) c.230A>G (p.Asn77Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508360A>T | CA340132538 | MMACHC | c.425A>T (p.Asn142Ile) c.254A>T (p.Asn85Ile) c.230A>T (p.Asn77Ile) | |
1 | g.45508361C>A | CA21829382 | MMACHC | c.426C>A (p.Asn142Lys) c.255C>A (p.Asn85Lys) c.231C>A (p.Asn77Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508361C= | CA1143082309 | MMACHC | c.426C= (p.Asn142=) c.255C= (p.Asn85=) c.231C= (p.Asn77=) | |
1 | g.45508361C>G | CA340132543 | MMACHC | c.426C>G (p.Asn142Lys) c.255C>G (p.Asn85Lys) c.231C>G (p.Asn77Lys) | gnomAD v4 |
1 | g.45508361C>T | CA417705694 | MMACHC | c.426C>T (p.Asn142=) c.255C>T (p.Asn85=) c.231C>T (p.Asn77=) | gnomAD v4 |
1 | g.45508362C>A | CA340132545 | MMACHC | c.427C>A (p.Gln143Lys) c.256C>A (p.Gln86Lys) c.232C>A (p.Gln78Lys) | |
1 | g.45508362C= | CA2473783415 | MMACHC | c.427C= (p.Gln143=) c.256C= (p.Gln86=) c.232C= (p.Gln78=) | |
1 | g.45508362C>G | CA340132547 | MMACHC | c.427C>G (p.Gln143Glu) c.256C>G (p.Gln86Glu) c.232C>G (p.Gln78Glu) | gnomAD v4 |
1 | g.45508362C>T | CA340132549 | MMACHC | c.427C>T (p.Gln143Ter) c.256C>T (p.Gln86Ter) c.232C>T (p.Gln78Ter) | ClinVar dbSNP |
1 | g.45508363A= | CA2473783416 | MMACHC | c.428A= (p.Gln143=) c.257A= (p.Gln86=) c.233A= (p.Gln78=) | |
1 | g.45508363A>C | CA340132557 | MMACHC | c.428A>C (p.Gln143Pro) c.257A>C (p.Gln86Pro) c.233A>C (p.Gln78Pro) | |
1 | g.45508363A>G | CA21829386 | MMACHC | c.428A>G (p.Gln143Arg) c.257A>G (p.Gln86Arg) c.233A>G (p.Gln78Arg) | dbSNP |
1 | g.45508363A>T | CA340132553 | MMACHC | c.428A>T (p.Gln143Leu) c.257A>T (p.Gln86Leu) c.233A>T (p.Gln78Leu) | |
1 | g.45508364G>A | CA827733 | MMACHC | c.429G>A (p.Gln143=) c.258G>A (p.Gln86=) c.234G>A (p.Gln78=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508364G>C | CA340132561 | MMACHC | c.429G>C (p.Gln143His) c.258G>C (p.Gln86His) c.234G>C (p.Gln78His) | |
1 | g.45508364G= | CA2473783417 | MMACHC | c.429G= (p.Gln143=) c.258G= (p.Gln86=) c.234G= (p.Gln78=) | |
1 | g.45508364G>T | CA340132564 | MMACHC | c.429G>T (p.Gln143His) c.258G>T (p.Gln86His) c.234G>T (p.Gln78His) | |
1 | g.45508365G>A | CA340132567 | MMACHC | c.429+1G>A (n.429+1G>A) c.258+1G>A (n.258+1G>A) c.234+1G>A (n.234+1G>A) | |
1 | g.45508365G>C | CA340132569 | MMACHC | c.429+1G>C (n.429+1G>C) c.258+1G>C (n.258+1G>C) c.234+1G>C (n.234+1G>C) | ClinVar dbSNP gnomAD v4 |
1 | g.45508365G= | CA2473783418 | MMACHC | c.429+1G= (n.429+1G=) c.258+1G= (n.258+1G=) c.234+1G= (n.234+1G=) | |
1 | g.45508365G>T | CA340132571 | MMACHC | c.429+1G>T (n.429+1G>T) c.258+1G>T (n.258+1G>T) c.234+1G>T (n.234+1G>T) | |
1 | g.45508366T>A | CA340132574 | MMACHC | c.429+2T>A (n.429+2T>A) c.258+2T>A (n.258+2T>A) c.234+2T>A (n.234+2T>A) | |
1 | g.45508366T>C | CA340132576 | MMACHC | c.429+2T>C (n.429+2T>C) c.258+2T>C (n.258+2T>C) c.234+2T>C (n.234+2T>C) | gnomAD v4 |
1 | g.45508366T>G | CA340132579 | MMACHC | c.429+2T>G (n.429+2T>G) c.258+2T>G (n.258+2T>G) c.234+2T>G (n.234+2T>G) | |
1 | g.45508371_45508395del | CA2573132411 | MMACHC | c.429+7_429+31del (n.429+7_429+31del) c.258+7_258+31del (n.258+7_258+31del) c.234+7_234+31del (n.234+7_234+31del) | ClinVar dbSNP |
1 | g.45508367G>A | CA2645390886 | MMACHC | c.429+3G>A (n.429+3G>A) c.258+3G>A (n.258+3G>A) c.234+3G>A (n.234+3G>A) | gnomAD v4 |
1 | g.45508368A>G | CA645523901 | MMACHC | c.429+4A>G (n.429+4A>G) c.258+4A>G (n.258+4A>G) c.234+4A>G (n.234+4A>G) | COSMIC |
1 | g.45508369G>A | CA2645390887 | MMACHC | c.429+5G>A (n.429+5G>A) c.258+5G>A (n.258+5G>A) c.234+5G>A (n.234+5G>A) | gnomAD v4 |
1 | g.45508369G>C | CA827734 | MMACHC | c.429+5G>C (n.429+5G>C) c.258+5G>C (n.258+5G>C) c.234+5G>C (n.234+5G>C) | dbSNP ExAC gnomAD v2 |
1 | g.45508369G= | CA2473783419 | MMACHC | c.429+5G= (n.429+5G=) c.258+5G= (n.258+5G=) c.234+5G= (n.234+5G=) | |
1 | g.45508371G>A | CA2573132412 | MMACHC | c.429+7G>A (n.429+7G>A) c.258+7G>A (n.258+7G>A) c.234+7G>A (n.234+7G>A) | ClinVar dbSNP gnomAD v4 |
1 | g.45508371G>C | CA522810662 | MMACHC | c.429+7G>C (n.429+7G>C) c.258+7G>C (n.258+7G>C) c.234+7G>C (n.234+7G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508371G= | CA2473783420 | MMACHC | c.429+7G= (n.429+7G=) c.258+7G= (n.258+7G=) c.234+7G= (n.234+7G=) | |
1 | g.45508372G>A | CA2645390888 | MMACHC | c.429+8G>A (n.429+8G>A) c.258+8G>A (n.258+8G>A) c.234+8G>A (n.234+8G>A) | gnomAD v4 |
1 | g.45508373G>A | CA2645390889 | MMACHC | c.429+9G>A (n.429+9G>A) c.258+9G>A (n.258+9G>A) c.234+9G>A (n.234+9G>A) | gnomAD v4 |
1 | g.45508373G>C | CA522810663 | MMACHC | c.429+9G>C (n.429+9G>C) c.258+9G>C (n.258+9G>C) c.234+9G>C (n.234+9G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508373G= | CA2473783421 | MMACHC | c.429+9G= (n.429+9G=) c.258+9G= (n.258+9G=) c.234+9G= (n.234+9G=) | |
1 | g.45508373G>T | CA2524783638 | MMACHC | c.429+9G>T (n.429+9G>T) c.258+9G>T (n.258+9G>T) c.234+9G>T (n.234+9G>T) | |
1 | g.45508377del | CA2739272545 | MMACHC | c.429+13del (n.429+13del) c.258+13del (n.258+13del) c.234+13del (n.234+13del) | ClinVar |
1 | g.45508376A>C | CA2697552412 | MMACHC | c.429+12A>C (n.429+12A>C) c.258+12A>C (n.258+12A>C) c.234+12A>C (n.234+12A>C) | ClinVar |
1 | g.45508378T>A | CA522810664 | MMACHC | c.429+14T>A (n.429+14T>A) c.258+14T>A (n.258+14T>A) c.234+14T>A (n.234+14T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508378T>C | CA2597128707 | MMACHC | c.429+14T>C (n.429+14T>C) c.258+14T>C (n.258+14T>C) c.234+14T>C (n.234+14T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508378T>G | CA827735 | MMACHC | c.429+14T>G (n.429+14T>G) c.258+14T>G (n.258+14T>G) c.234+14T>G (n.234+14T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508378T= | CA1143781954 | MMACHC | c.429+14T= (n.429+14T=) c.258+14T= (n.258+14T=) c.234+14T= (n.234+14T=) | |
1 | g.45508379G>A | CA2645390890 | MMACHC | c.429+15G>A (n.429+15G>A) c.258+15G>A (n.258+15G>A) c.234+15G>A (n.234+15G>A) | gnomAD v4 |
1 | g.45508379G>T | CA2645390891 | MMACHC | c.429+15G>T (n.429+15G>T) c.258+15G>T (n.258+15G>T) c.234+15G>T (n.234+15G>T) | gnomAD v4 |
1 | g.45508379_45508383delinsGTAAA | CA2473783422 | MMACHC | c.429+15_429+19delinsGTAAA (n.429+15_429+19delinsGTAAA) c.258+15_258+19delinsGTAAA (n.258+15_258+19delinsGTAAA) c.234+15_234+19delinsGTAAA (n.234+15_234+19delinsGTAAA) | |
1 | g.45508382_45508385del | CA827736 | MMACHC | c.429+18_429+21del (n.429+18_429+21del) c.258+18_258+21del (n.258+18_258+21del) c.234+18_234+21del (n.234+18_234+21del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508382_45508384delinsAAT | CA2473783423 | MMACHC | c.429+18_429+20delinsAAT (n.429+18_429+20delinsAAT) c.258+18_258+20delinsAAT (n.258+18_258+20delinsAAT) c.234+18_234+20delinsAAT (n.234+18_234+20delinsAAT) | |
1 | g.45508384_45508385del | CA736190626 | MMACHC | c.429+20_429+21del (n.429+20_429+21del) c.258+20_258+21del (n.258+20_258+21del) c.234+20_234+21del (n.234+20_234+21del) | dbSNP |
1 | g.45508384T>C | CA2580062920 | MMACHC | c.429+20T>C (n.429+20T>C) c.258+20T>C (n.258+20T>C) c.234+20T>C (n.234+20T>C) | ClinVar gnomAD v4 |
1 | g.45508384T>G | CA2473783425 | MMACHC | c.429+20T>G (n.429+20T>G) c.258+20T>G (n.258+20T>G) c.234+20T>G (n.234+20T>G) | ClinVar dbSNP |
1 | g.45508384T= | CA2473783424 | MMACHC | c.429+20T= (n.429+20T=) c.258+20T= (n.258+20T=) c.234+20T= (n.234+20T=) | |
1 | g.45508385A>G | CA2574352253 | MMACHC | c.429+21A>G (n.429+21A>G) c.258+21A>G (n.258+21A>G) c.234+21A>G (n.234+21A>G) | gnomAD v4 |
1 | g.45508386G>C | CA2645390892 | MMACHC | c.429+22G>C (n.429+22G>C) c.258+22G>C (n.258+22G>C) c.234+22G>C (n.234+22G>C) | gnomAD v4 |
1 | g.45508388G>A | CA522810665 | MMACHC | c.429+24G>A (n.429+24G>A) c.258+24G>A (n.258+24G>A) c.234+24G>A (n.234+24G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508388G= | CA2473783426 | MMACHC | c.429+24G= (n.429+24G=) c.258+24G= (n.258+24G=) c.234+24G= (n.234+24G=) | |
1 | g.45508389G>A | CA2645390893 | MMACHC | c.429+25G>A (n.429+25G>A) c.258+25G>A (n.258+25G>A) c.234+25G>A (n.234+25G>A) | gnomAD v4 |
1 | g.45508390C>A | CA2473783428 | MMACHC | c.429+26C>A (n.429+26C>A) c.258+26C>A (n.258+26C>A) c.234+26C>A (n.234+26C>A) | dbSNP |
1 | g.45508390C= | CA2473783427 | MMACHC | c.429+26C= (n.429+26C=) c.258+26C= (n.258+26C=) c.234+26C= (n.234+26C=) | |
1 | g.45508390C>T | CA2645390894 | MMACHC | c.429+26C>T (n.429+26C>T) c.258+26C>T (n.258+26C>T) c.234+26C>T (n.234+26C>T) | gnomAD v4 |
1 | g.45508391T>C | CA2645390895 | MMACHC | c.429+27T>C (n.429+27T>C) c.258+27T>C (n.258+27T>C) c.234+27T>C (n.234+27T>C) | gnomAD v4 |
1 | g.45508391T>G | CA522810666 | MMACHC | c.429+27T>G (n.429+27T>G) c.258+27T>G (n.258+27T>G) c.234+27T>G (n.234+27T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508391T= | CA2473783429 | MMACHC | c.429+27T= (n.429+27T=) c.258+27T= (n.258+27T=) c.234+27T= (n.234+27T=) | |
1 | g.45508392G>A | CA2645390896 | MMACHC | c.429+28G>A (n.429+28G>A) c.258+28G>A (n.258+28G>A) c.234+28G>A (n.234+28G>A) | gnomAD v4 |
1 | g.45508392G>T | CA2743432293 | MMACHC | c.429+28G>T (n.429+28G>T) c.258+28G>T (n.258+28G>T) c.234+28G>T (n.234+28G>T) | |
1 | g.45508393A= | CA2473783430 | MMACHC | c.429+29A= (n.429+29A=) c.258+29A= (n.258+29A=) c.234+29A= (n.234+29A=) | |
1 | g.45508393A>C | CA522810667 | MMACHC | c.429+29A>C (n.429+29A>C) c.258+29A>C (n.258+29A>C) c.234+29A>C (n.234+29A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508394G>C | CA2645390897 | MMACHC | c.429+30G>C (n.429+30G>C) c.258+30G>C (n.258+30G>C) c.234+30G>C (n.234+30G>C) | gnomAD v4 |
1 | g.45508396T>C | CA21829413 | MMACHC | c.429+32T>C (n.429+32T>C) c.258+32T>C (n.258+32T>C) c.234+32T>C (n.234+32T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508396T>G | CA2574352254 | MMACHC | c.429+32T>G (n.429+32T>G) c.258+32T>G (n.258+32T>G) c.234+32T>G (n.234+32T>G) | gnomAD v4 |
1 | g.45508396T= | CA2473783431 | MMACHC | c.429+32T= (n.429+32T=) c.258+32T= (n.258+32T=) c.234+32T= (n.234+32T=) | |
1 | g.45508398G>C | CA2645390898 | MMACHC | c.429+34G>C (n.429+34G>C) c.258+34G>C (n.258+34G>C) c.234+34G>C (n.234+34G>C) | gnomAD v4 |
1 | g.45508398G>T | CA2645390899 | MMACHC | c.429+34G>T (n.429+34G>T) c.258+34G>T (n.258+34G>T) c.234+34G>T (n.234+34G>T) | gnomAD v4 |
1 | g.45508401T>C | CA2645390900 | MMACHC | c.429+37T>C (n.429+37T>C) c.258+37T>C (n.258+37T>C) c.234+37T>C (n.234+37T>C) | gnomAD v4 |
1 | g.45508402G>A | CA827737 | MMACHC | c.429+38G>A (n.429+38G>A) c.258+38G>A (n.258+38G>A) c.234+38G>A (n.234+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508402G= | CA2473783432 | MMACHC | c.429+38G= (n.429+38G=) c.258+38G= (n.258+38G=) c.234+38G= (n.234+38G=) | |
1 | g.45508403G>C | CA2473783434 | MMACHC | c.429+39G>C (n.429+39G>C) c.258+39G>C (n.258+39G>C) c.234+39G>C (n.234+39G>C) | dbSNP gnomAD v4 |
1 | g.45508403G= | CA2473783433 | MMACHC | c.429+39G= (n.429+39G=) c.258+39G= (n.258+39G=) c.234+39G= (n.234+39G=) | |
1 | g.45508403G>T | CA522810668 | MMACHC | c.429+39G>T (n.429+39G>T) c.258+39G>T (n.258+39G>T) c.234+39G>T (n.234+39G>T) | dbSNP gnomAD v2 |
1 | g.45508404T>C | CA827738 | MMACHC | c.429+40T>C (n.429+40T>C) c.258+40T>C (n.258+40T>C) c.234+40T>C (n.234+40T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508404T>G | CA2473783435 | MMACHC | c.429+40T>G (n.429+40T>G) c.258+40T>G (n.258+40T>G) c.234+40T>G (n.234+40T>G) | dbSNP |
1 | g.45508404T= | CA1143951868 | MMACHC | c.429+40T= (n.429+40T=) c.258+40T= (n.258+40T=) c.234+40T= (n.234+40T=) | |
1 | g.45508405A= | CA2473783436 | MMACHC | c.429+41A= (n.429+41A=) c.258+41A= (n.258+41A=) c.234+41A= (n.234+41A=) | |
1 | g.45508405A>G | CA2473783437 | MMACHC | c.429+41A>G (n.429+41A>G) c.258+41A>G (n.258+41A>G) c.234+41A>G (n.234+41A>G) | dbSNP |
1 | g.45508407del | CA2574352255 | MMACHC | c.429+43del (n.429+43del) c.258+43del (n.258+43del) c.234+43del (n.234+43del) | |
1 | g.45508407A= | CA2473783438 | MMACHC | c.429+43A= (n.429+43A=) c.258+43A= (n.258+43A=) c.234+43A= (n.234+43A=) | |
1 | g.45508407A>G | CA522810669 | MMACHC | c.429+43A>G (n.429+43A>G) c.258+43A>G (n.258+43A>G) c.234+43A>G (n.234+43A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508408G>A | CA522810670 | MMACHC | c.429+44G>A (n.429+44G>A) c.258+44G>A (n.258+44G>A) c.234+44G>A (n.234+44G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508408G>C | CA827739 | MMACHC | c.429+44G>C (n.429+44G>C) c.258+44G>C (n.258+44G>C) c.234+44G>C (n.234+44G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508408G= | CA2473783439 | MMACHC | c.429+44G= (n.429+44G=) c.258+44G= (n.258+44G=) c.234+44G= (n.234+44G=) | |
1 | g.45508409G>A | CA522810671 | MMACHC | c.429+45G>A (n.429+45G>A) c.258+45G>A (n.258+45G>A) c.234+45G>A (n.234+45G>A) | dbSNP gnomAD v2 |
1 | g.45508409G= | CA2473783440 | MMACHC | c.429+45G= (n.429+45G=) c.258+45G= (n.258+45G=) c.234+45G= (n.234+45G=) | |
1 | g.45508409G>T | CA827740 | MMACHC | c.429+45G>T (n.429+45G>T) c.258+45G>T (n.258+45G>T) c.234+45G>T (n.234+45G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508410C>A | CA2645390901 | MMACHC | c.429+46C>A (n.429+46C>A) c.258+46C>A (n.258+46C>A) c.234+46C>A (n.234+46C>A) | gnomAD v4 |
1 | g.45508410C= | CA2473783441 | MMACHC | c.429+46C= (n.429+46C=) c.258+46C= (n.258+46C=) c.234+46C= (n.234+46C=) | |
1 | g.45508410C>T | CA2473783442 | MMACHC | c.429+46C>T (n.429+46C>T) c.258+46C>T (n.258+46C>T) c.234+46C>T (n.234+46C>T) | dbSNP |
1 | g.45508411C>A | CA2542918589 | MMACHC | c.429+47C>A (n.429+47C>A) c.258+47C>A (n.258+47C>A) c.234+47C>A (n.234+47C>A) | |
1 | g.45508411C= | CA2473783443 | MMACHC | c.429+47C= (n.429+47C=) c.258+47C= (n.258+47C=) c.234+47C= (n.234+47C=) | |
1 | g.45508411C>T | CA736190684 | MMACHC | c.429+47C>T (n.429+47C>T) c.258+47C>T (n.258+47C>T) c.234+47C>T (n.234+47C>T) | dbSNP gnomAD v4 |
1 | g.45508412T>C | CA827741 | MMACHC | c.429+48T>C (n.429+48T>C) c.258+48T>C (n.258+48T>C) c.234+48T>C (n.234+48T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508412T= | CA1147704710 | MMACHC | c.429+48T= (n.429+48T=) c.258+48T= (n.258+48T=) c.234+48T= (n.234+48T=) | |
1 | g.45508412_45508416delinsTCTCC | CA2473783444 | MMACHC | c.429+48_429+52delinsTCTCC (n.429+48_429+52delinsTCTCC) c.258+48_258+52delinsTCTCC (n.258+48_258+52delinsTCTCC) c.234+48_234+52delinsTCTCC (n.234+48_234+52delinsTCTCC) | |
1 | g.45508413C= | CA2473783445 | MMACHC | c.429+49C= (n.429+49C=) c.258+49C= (n.258+49C=) c.234+49C= (n.234+49C=) | |
1 | g.45508413C>G | CA522810672 | MMACHC | c.429+49C>G (n.429+49C>G) c.258+49C>G (n.258+49C>G) c.234+49C>G (n.234+49C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508413C>T | CA827742 | MMACHC | c.429+49C>T (n.429+49C>T) c.258+49C>T (n.258+49C>T) c.234+49C>T (n.234+49C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508415_45508418del | CA21829427 | MMACHC | c.429+51_429+54del (n.429+51_429+54del) c.258+51_258+54del (n.258+51_258+54del) c.234+51_234+54del (n.234+51_234+54del) | dbSNP |
1 | g.45508414T>G | CA522810673 | MMACHC | c.429+50T>G (n.429+50T>G) c.258+50T>G (n.258+50T>G) c.234+50T>G (n.234+50T>G) | dbSNP gnomAD v2 |
1 | g.45508414T= | CA2473783446 | MMACHC | c.429+50T= (n.429+50T=) c.258+50T= (n.258+50T=) c.234+50T= (n.234+50T=) | |
1 | g.45508415C= | CA1149107770 | MMACHC | c.429+51C= (n.429+51C=) c.258+51C= (n.258+51C=) c.234+51C= (n.234+51C=) | |
1 | g.45508415C>T | CA827743 | MMACHC | c.429+51C>T (n.429+51C>T) c.258+51C>T (n.258+51C>T) c.234+51C>T (n.234+51C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508416C>A | CA2645390903 | MMACHC | c.429+52C>A (n.429+52C>A) c.258+52C>A (n.258+52C>A) c.234+52C>A (n.234+52C>A) | gnomAD v4 |
1 | g.45508416C>T | CA2645390902 | MMACHC | c.429+52C>T (n.429+52C>T) c.258+52C>T (n.258+52C>T) c.234+52C>T (n.234+52C>T) | gnomAD v4 |
1 | g.45508417C>A | CA2574352256 | MMACHC | c.429+53C>A (n.429+53C>A) c.258+53C>A (n.258+53C>A) c.234+53C>A (n.234+53C>A) | gnomAD v4 |
1 | g.45508419A= | CA2473783447 | MMACHC | c.429+55A= (n.429+55A=) c.258+55A= (n.258+55A=) c.234+55A= (n.234+55A=) | |
1 | g.45508419A>G | CA736190698 | MMACHC | c.429+55A>G (n.429+55A>G) c.258+55A>G (n.258+55A>G) c.234+55A>G (n.234+55A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508419A>T | CA2473783448 | MMACHC | c.429+55A>T (n.429+55A>T) c.258+55A>T (n.258+55A>T) c.234+55A>T (n.234+55A>T) | dbSNP |
1 | g.45508420C>A | CA2645390904 | MMACHC | c.429+56C>A (n.429+56C>A) c.258+56C>A (n.258+56C>A) c.234+56C>A (n.234+56C>A) | gnomAD v4 |
1 | g.45508421C>A | CA2645390905 | MMACHC | c.429+57C>A (n.429+57C>A) c.258+57C>A (n.258+57C>A) c.234+57C>A (n.234+57C>A) | gnomAD v4 |
1 | g.45508421C>G | CA2645390906 | MMACHC | c.429+57C>G (n.429+57C>G) c.258+57C>G (n.258+57C>G) c.234+57C>G (n.234+57C>G) | gnomAD v4 |
1 | g.45508422A>G | CA2645390907 | MMACHC | c.429+58A>G (n.429+58A>G) c.258+58A>G (n.258+58A>G) c.234+58A>G (n.234+58A>G) | gnomAD v4 |