Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.43065430_43065849dup | CA891843625 | CBS | c.452-153_624dup n.763-153_935dup c.503-153_675dup c.137-153_309dup n.823-153_995dup n.602-153_774dup | ClinVar dbSNP |
21 | g.43065618_43065697del | CA2695230231 | CBS | c.453_531+1del n.764_842+1del c.504_582+1del c.138_216+1del n.824_902+1del n.603_681+1del | |
21 | g.43065652_43065669dup | CA2654728356 | CBS | c.478_495dup (p.Cys165_Ile166insValArgGlyTyrArgCys) n.789_806dup c.529_546dup (p.Cys182_Ile183insValArgGlyTyrArgCys) c.163_180dup (p.Cys60_Ile61insValArgGlyTyrArgCys) n.849_866dup n.628_645dup | gnomAD v4 |
21 | g.43065655G>A | CA2579812154 | CBS | c.492C>T (p.Arg164=) n.803C>T c.543C>T (p.Arg181=) c.177C>T (p.Arg59=) n.863C>T n.642C>T | |
21 | g.43065655G>C | CA749580062 | CBS | c.492C>G (p.Arg164=) n.803C>G c.543C>G (p.Arg181=) c.177C>G (p.Arg59=) n.863C>G n.642C>G | ClinVar dbSNP gnomAD v4 |
21 | g.43065655G= | CA2391103871 | CBS | c.492C= (p.Arg164=) n.803C= c.543C= (p.Arg181=) c.177C= (p.Arg59=) n.863C= n.642C= | |
21 | g.43065655_43065656delinsAT | CA2579812147 | CBS | c.491_492delinsAT (p.Arg164His) n.802_803delinsAT c.542_543delinsAT (p.Arg181His) c.176_177delinsAT (p.Arg59His) n.862_863delinsAT n.641_642delinsAT | |
21 | g.43065655_43065656delinsCA | CA2579812142 | CBS | c.491_492delinsTG (p.Arg164Leu) n.802_803delinsTG c.542_543delinsTG (p.Arg181Leu) c.176_177delinsTG (p.Arg59Leu) n.862_863delinsTG n.641_642delinsTG | |
21 | g.43065655_43065656delinsCT | CA2579812149 | CBS | c.491_492delinsAG (p.Arg164Gln) n.802_803delinsAG c.542_543delinsAG (p.Arg181Gln) c.176_177delinsAG (p.Arg59Gln) n.862_863delinsAG n.641_642delinsAG | |
21 | g.43065655_43065657delinsAAA | CA2579812802 | CBS | c.490_492delinsTTT (p.Arg164Phe) n.801_803delinsTTT c.541_543delinsTTT (p.Arg181Phe) c.175_177delinsTTT (p.Arg59Phe) n.861_863delinsTTT n.640_642delinsTTT | |
21 | g.43065655_43065657delinsAAC | CA2579812795 | CBS | c.490_492delinsGTT (p.Arg164Val) n.801_803delinsGTT c.541_543delinsGTT (p.Arg181Val) c.175_177delinsGTT (p.Arg59Val) n.861_863delinsGTT n.640_642delinsGTT | |
21 | g.43065655_43065657delinsAAT | CA2579812146 | CBS | c.490_492delinsATT (p.Arg164Ile) n.801_803delinsATT c.541_543delinsATT (p.Arg181Ile) c.175_177delinsATT (p.Arg59Ile) n.861_863delinsATT n.640_642delinsATT | |
21 | g.43065655_43065657delinsACA | CA2579812150 | CBS | c.490_492delinsTGT (p.Arg164Cys) n.801_803delinsTGT c.541_543delinsTGT (p.Arg181Cys) c.175_177delinsTGT (p.Arg59Cys) n.861_863delinsTGT n.640_642delinsTGT | |
21 | g.43065655_43065657delinsACT | CA2579812800 | CBS | c.490_492delinsAGT (p.Arg164Ser) n.801_803delinsAGT c.541_543delinsAGT (p.Arg181Ser) c.175_177delinsAGT (p.Arg59Ser) n.861_863delinsAGT n.640_642delinsAGT | |
21 | g.43065655_43065657delinsAGA | CA2579812801 | CBS | c.490_492delinsTCT (p.Arg164Ser) n.801_803delinsTCT c.541_543delinsTCT (p.Arg181Ser) c.175_177delinsTCT (p.Arg59Ser) n.861_863delinsTCT n.640_642delinsTCT | |
21 | g.43065655_43065657delinsATA | CA2579812797 | CBS | c.490_492delinsTAT (p.Arg164Tyr) n.801_803delinsTAT c.541_543delinsTAT (p.Arg181Tyr) c.175_177delinsTAT (p.Arg59Tyr) n.861_863delinsTAT n.640_642delinsTAT | |
21 | g.43065655_43065657delinsATC | CA2579812151 | CBS | c.490_492delinsGAT (p.Arg164Asp) n.801_803delinsGAT c.541_543delinsGAT (p.Arg181Asp) c.175_177delinsGAT (p.Arg59Asp) n.861_863delinsGAT n.640_642delinsGAT | |
21 | g.43065655_43065657delinsCAA | CA2579812145 | CBS | c.490_492delinsTTG (p.Arg164Leu) n.801_803delinsTTG c.541_543delinsTTG (p.Arg181Leu) c.175_177delinsTTG (p.Arg59Leu) n.861_863delinsTTG n.640_642delinsTTG | |
21 | g.43065655_43065657delinsCAC | CA2579812794 | CBS | c.490_492delinsGTG (p.Arg164Val) n.801_803delinsGTG c.541_543delinsGTG (p.Arg181Val) c.175_177delinsGTG (p.Arg59Val) n.861_863delinsGTG n.640_642delinsGTG | |
21 | g.43065655_43065657delinsCAT | CA2579812144 | CBS | c.490_492delinsATG (p.Arg164Met) n.801_803delinsATG c.541_543delinsATG (p.Arg181Met) c.175_177delinsATG (p.Arg59Met) n.861_863delinsATG n.640_642delinsATG | |
21 | g.43065655_43065657delinsCCA | CA2579812798 | CBS | c.490_492delinsTGG (p.Arg164Trp) n.801_803delinsTGG c.541_543delinsTGG (p.Arg181Trp) c.175_177delinsTGG (p.Arg59Trp) n.861_863delinsTGG n.640_642delinsTGG | |
21 | g.43065655_43065657delinsCCC | CA2579812148 | CBS | c.490_492delinsGGG (p.Arg164Gly) n.801_803delinsGGG c.541_543delinsGGG (p.Arg181Gly) c.175_177delinsGGG (p.Arg59Gly) n.861_863delinsGGG n.640_642delinsGGG | |
21 | g.43065655_43065657delinsCCT | CA2579812155 | CBS | c.490_492delinsAGG (p.Arg164=) n.801_803delinsAGG c.541_543delinsAGG (p.Arg181=) c.175_177delinsAGG (p.Arg59=) n.861_863delinsAGG n.640_642delinsAGG | |
21 | g.43065655_43065657delinsCGC | CA2579812152 | CBS | c.490_492delinsGCG (p.Arg164Ala) n.801_803delinsGCG c.541_543delinsGCG (p.Arg181Ala) c.175_177delinsGCG (p.Arg59Ala) n.861_863delinsGCG n.640_642delinsGCG | |
21 | g.43065655_43065657delinsCTA | CA2579812799 | CBS | c.490_492delinsTAG (p.Arg164Ter) n.801_803delinsTAG c.541_543delinsTAG (p.Arg181Ter) c.175_177delinsTAG (p.Arg59Ter) n.861_863delinsTAG n.640_642delinsTAG | |
21 | g.43065655_43065657delinsTAC | CA2579812796 | CBS | c.490_492delinsGTA (p.Arg164Val) n.801_803delinsGTA c.541_543delinsGTA (p.Arg181Val) c.175_177delinsGTA (p.Arg59Val) n.861_863delinsGTA n.640_642delinsGTA | |
21 | g.43065656C>A | CA410601412 | CBS | c.491G>T (p.Arg164Leu) n.802G>T c.542G>T (p.Arg181Leu) c.176G>T (p.Arg59Leu) n.862G>T n.641G>T | |
21 | g.43065656C= | CA2391103872 | CBS | c.491G= (p.Arg164=) n.802G= c.542G= (p.Arg181=) c.176G= (p.Arg59=) n.862G= n.641G= | |
21 | g.43065656C>G | CA410601410 | CBS | c.491G>C (p.Arg164Pro) n.802G>C c.542G>C (p.Arg181Pro) c.176G>C (p.Arg59Pro) n.862G>C n.641G>C | |
21 | g.43065656C>T | CA321096667 | CBS | c.491G>A (p.Arg164His) n.802G>A c.542G>A (p.Arg181His) c.176G>A (p.Arg59His) n.862G>A n.641G>A | ClinVar dbSNP gnomAD v4 |
21 | g.43065656_43065657delinsAA | CA2579812805 | CBS | c.490_491delinsTT (p.Arg164Phe) n.801_802delinsTT c.541_542delinsTT (p.Arg181Phe) c.175_176delinsTT (p.Arg59Phe) n.861_862delinsTT n.640_641delinsTT | |
21 | g.43065656_43065657delinsTC | CA2579812153 | CBS | c.490_491delinsGA (p.Arg164Asp) n.801_802delinsGA c.541_542delinsGA (p.Arg181Asp) c.175_176delinsGA (p.Arg59Asp) n.861_862delinsGA n.640_641delinsGA | |
21 | g.43065657G>A | CA410601414 | CBS | c.490C>T (p.Arg164Cys) n.801C>T c.541C>T (p.Arg181Cys) c.175C>T (p.Arg59Cys) n.861C>T n.640C>T | dbSNP gnomAD v4 COSMIC COSMIC |
21 | g.43065657G>C | CA410601417 | CBS | c.490C>G (p.Arg164Gly) n.801C>G c.541C>G (p.Arg181Gly) c.175C>G (p.Arg59Gly) n.861C>G n.640C>G | |
21 | g.43065657G= | CA2391103873 | CBS | c.490C= (p.Arg164=) n.801C= c.541C= (p.Arg181=) c.175C= (p.Arg59=) n.861C= n.640C= | |
21 | g.43065657G>T | CA410601419 | CBS | c.490C>A (p.Arg164Ser) n.801C>A c.541C>A (p.Arg181Ser) c.175C>A (p.Arg59Ser) n.861C>A n.640C>A | |
21 | g.43065658A= | CA2391103874 | CBS | c.489T= (p.Tyr163=) n.800T= c.540T= (p.Tyr180=) c.174T= (p.Tyr58=) n.860T= n.639T= | |
21 | g.43065658A>C | CA410601421 | CBS | c.489T>G (p.Tyr163Ter) n.800T>G c.540T>G (p.Tyr180Ter) c.174T>G (p.Tyr58Ter) n.860T>G n.639T>G | |
21 | g.43065658A>G | CA321096671 | CBS | c.489T>C (p.Tyr163=) n.800T>C c.540T>C (p.Tyr180=) c.174T>C (p.Tyr58=) n.860T>C n.639T>C | ClinVar dbSNP gnomAD v4 |
21 | g.43065658A>T | CA410601423 | CBS | c.489T>A (p.Tyr163Ter) n.800T>A c.540T>A (p.Tyr180Ter) c.174T>A (p.Tyr58Ter) n.860T>A n.639T>A | |
21 | g.43065658_43065659delinsCA | CA2579803577 | CBS | c.488_489delinsTG (p.Tyr163Leu) n.799_800delinsTG c.539_540delinsTG (p.Tyr180Leu) c.173_174delinsTG (p.Tyr58Leu) n.859_860delinsTG n.638_639delinsTG | |
21 | g.43065658_43065659delinsCC | CA2579803569 | CBS | c.488_489delinsGG (p.Tyr163Trp) n.799_800delinsGG c.539_540delinsGG (p.Tyr180Trp) c.173_174delinsGG (p.Tyr58Trp) n.859_860delinsGG n.638_639delinsGG | |
21 | g.43065658_43065659delinsCG | CA2579803574 | CBS | c.488_489delinsCG (p.Tyr163Ser) n.799_800delinsCG c.539_540delinsCG (p.Tyr180Ser) c.173_174delinsCG (p.Tyr58Ser) n.859_860delinsCG n.638_639delinsCG | |
21 | g.43065658_43065660delinsCAC | CA2579803568 | CBS | c.487_489delinsGTG (p.Tyr163Val) n.798_800delinsGTG c.538_540delinsGTG (p.Tyr180Val) c.172_174delinsGTG (p.Tyr58Val) n.858_860delinsGTG n.637_639delinsGTG | |
21 | g.43065658_43065660delinsCAT | CA2579803573 | CBS | c.487_489delinsATG (p.Tyr163Met) n.798_800delinsATG c.538_540delinsATG (p.Tyr180Met) c.172_174delinsATG (p.Tyr58Met) n.858_860delinsATG n.637_639delinsATG | |
21 | g.43065658_43065660delinsCCC | CA2579803580 | CBS | c.487_489delinsGGG (p.Tyr163Gly) n.798_800delinsGGG c.538_540delinsGGG (p.Tyr180Gly) c.172_174delinsGGG (p.Tyr58Gly) n.858_860delinsGGG n.637_639delinsGGG | |
21 | g.43065658_43065660delinsCCT | CA2579803581 | CBS | c.487_489delinsAGG (p.Tyr163Arg) n.798_800delinsAGG c.538_540delinsAGG (p.Tyr180Arg) c.172_174delinsAGG (p.Tyr58Arg) n.858_860delinsAGG n.637_639delinsAGG | |
21 | g.43065658_43065660delinsCGC | CA2579803583 | CBS | c.487_489delinsGCG (p.Tyr163Ala) n.798_800delinsGCG c.538_540delinsGCG (p.Tyr180Ala) c.172_174delinsGCG (p.Tyr58Ala) n.858_860delinsGCG n.637_639delinsGCG | |
21 | g.43065658_43065660delinsCTC | CA2579803579 | CBS | c.487_489delinsGAG (p.Tyr163Glu) n.798_800delinsGAG c.538_540delinsGAG (p.Tyr180Glu) c.172_174delinsGAG (p.Tyr58Glu) n.858_860delinsGAG n.637_639delinsGAG | |
21 | g.43065658_43065660delinsCTT | CA2579803575 | CBS | c.487_489delinsAAG (p.Tyr163Lys) n.798_800delinsAAG c.538_540delinsAAG (p.Tyr180Lys) c.172_174delinsAAG (p.Tyr58Lys) n.858_860delinsAAG n.637_639delinsAAG | |
21 | g.43065659T>A | CA410601425 | CBS | c.488A>T (p.Tyr163Phe) n.799A>T c.539A>T (p.Tyr180Phe) c.173A>T (p.Tyr58Phe) n.859A>T n.638A>T | |
21 | g.43065659T>C | CA410601428 | CBS | c.488A>G (p.Tyr163Cys) n.799A>G c.539A>G (p.Tyr180Cys) c.173A>G (p.Tyr58Cys) n.859A>G n.638A>G | ClinVar dbSNP |
21 | g.43065659T>G | CA410601426 | CBS | c.488A>C (p.Tyr163Ser) n.799A>C c.539A>C (p.Tyr180Ser) c.173A>C (p.Tyr58Ser) n.859A>C n.638A>C | gnomAD v4 |
21 | g.43065659_43065660delinsAC | CA2579803570 | CBS | c.487_488delinsGT (p.Tyr163Val) n.798_799delinsGT c.538_539delinsGT (p.Tyr180Val) c.172_173delinsGT (p.Tyr58Val) n.858_859delinsGT n.637_638delinsGT | |
21 | g.43065659_43065660delinsAG | CA2579803576 | CBS | c.487_488delinsCT (p.Tyr163Leu) n.798_799delinsCT c.538_539delinsCT (p.Tyr180Leu) c.172_173delinsCT (p.Tyr58Leu) n.858_859delinsCT n.637_638delinsCT | |
21 | g.43065659_43065660delinsCC | CA2579803578 | CBS | c.487_488delinsGG (p.Tyr163Gly) n.798_799delinsGG c.538_539delinsGG (p.Tyr180Gly) c.172_173delinsGG (p.Tyr58Gly) n.858_859delinsGG n.637_638delinsGG | |
21 | g.43065659_43065660delinsCG | CA2579803582 | CBS | c.487_488delinsCG (p.Tyr163Arg) n.798_799delinsCG c.538_539delinsCG (p.Tyr180Arg) c.172_173delinsCG (p.Tyr58Arg) n.858_859delinsCG n.637_638delinsCG | |
21 | g.43065659_43065660delinsCT | CA2579803572 | CBS | c.487_488delinsAG (p.Tyr163Ser) n.798_799delinsAG c.538_539delinsAG (p.Tyr180Ser) c.172_173delinsAG (p.Tyr58Ser) n.858_859delinsAG n.637_638delinsAG | |
21 | g.43065659_43065660delinsGC | CA2579803584 | CBS | c.487_488delinsGC (p.Tyr163Ala) n.798_799delinsGC c.538_539delinsGC (p.Tyr180Ala) c.172_173delinsGC (p.Tyr58Ala) n.858_859delinsGC n.637_638delinsGC | |
21 | g.43065659_43065660delinsGT | CA2579803571 | CBS | c.487_488delinsAC (p.Tyr163Thr) n.798_799delinsAC c.538_539delinsAC (p.Tyr180Thr) c.172_173delinsAC (p.Tyr58Thr) n.858_859delinsAC n.637_638delinsAC | |
21 | g.43065660A>C | CA410601430 | CBS | c.487T>G (p.Tyr163Asp) n.798T>G c.538T>G (p.Tyr180Asp) c.172T>G (p.Tyr58Asp) n.858T>G n.637T>G | |
21 | g.43065660A>G | CA410601432 | CBS | c.487T>C (p.Tyr163His) n.798T>C c.538T>C (p.Tyr180His) c.172T>C (p.Tyr58His) n.858T>C n.637T>C | |
21 | g.43065660A>T | CA410601433 | CBS | c.487T>A (p.Tyr163Asn) n.798T>A c.538T>A (p.Tyr180Asn) c.172T>A (p.Tyr58Asn) n.858T>A n.637T>A | |
21 | g.43065661G>A | CA749580065 | CBS | c.486C>T (p.Gly162=) n.797C>T c.537C>T (p.Gly179=) c.171C>T (p.Gly57=) n.857C>T n.636C>T | dbSNP |
21 | g.43065661G>C | CA2579809591 | CBS | c.486C>G (p.Gly162=) n.797C>G c.537C>G (p.Gly179=) c.171C>G (p.Gly57=) n.857C>G n.636C>G | |
21 | g.43065661G= | CA2391103875 | CBS | c.486C= (p.Gly162=) n.797C= c.537C= (p.Gly179=) c.171C= (p.Gly57=) n.857C= n.636C= | |
21 | g.43065661_43065662delinsCA | CA2579809581 | CBS | c.485_486delinsTG (p.Gly162Val) n.796_797delinsTG c.536_537delinsTG (p.Gly179Val) c.170_171delinsTG (p.Gly57Val) n.856_857delinsTG n.635_636delinsTG | |
21 | g.43065661_43065662delinsTA | CA2579809580 | CBS | c.485_486delinsTA (p.Gly162Val) n.796_797delinsTA c.536_537delinsTA (p.Gly179Val) c.170_171delinsTA (p.Gly57Val) n.856_857delinsTA n.635_636delinsTA | |
21 | g.43065661_43065663delinsAAA | CA2579809587 | CBS | c.484_486delinsTTT (p.Gly162Phe) n.795_797delinsTTT c.535_537delinsTTT (p.Gly179Phe) c.169_171delinsTTT (p.Gly57Phe) n.855_857delinsTTT n.634_636delinsTTT | |
21 | g.43065661_43065663delinsAAG | CA2579809590 | CBS | c.484_486delinsCTT (p.Gly162Leu) n.795_797delinsCTT c.535_537delinsCTT (p.Gly179Leu) c.169_171delinsCTT (p.Gly57Leu) n.855_857delinsCTT n.634_636delinsCTT | |
21 | g.43065661_43065663delinsACA | CA2579809589 | CBS | c.484_486delinsTGT (p.Gly162Cys) n.795_797delinsTGT c.535_537delinsTGT (p.Gly179Cys) c.169_171delinsTGT (p.Gly57Cys) n.855_857delinsTGT n.634_636delinsTGT | |
21 | g.43065661_43065663delinsAGA | CA2579813722 | CBS | c.484_486delinsTCT (p.Gly162Ser) n.795_797delinsTCT c.535_537delinsTCT (p.Gly179Ser) c.169_171delinsTCT (p.Gly57Ser) n.855_857delinsTCT n.634_636delinsTCT | |
21 | g.43065661_43065663delinsAGG | CA2579809586 | CBS | c.484_486delinsCCT (p.Gly162Pro) n.795_797delinsCCT c.535_537delinsCCT (p.Gly179Pro) c.169_171delinsCCT (p.Gly57Pro) n.855_857delinsCCT n.634_636delinsCCT | |
21 | g.43065661_43065663delinsAGT | CA2579809585 | CBS | c.484_486delinsACT (p.Gly162Thr) n.795_797delinsACT c.535_537delinsACT (p.Gly179Thr) c.169_171delinsACT (p.Gly57Thr) n.855_857delinsACT n.634_636delinsACT | |
21 | g.43065661_43065663delinsCAA | CA2579809588 | CBS | c.484_486delinsTTG (p.Gly162Leu) n.795_797delinsTTG c.535_537delinsTTG (p.Gly179Leu) c.169_171delinsTTG (p.Gly57Leu) n.855_857delinsTTG n.634_636delinsTTG | |
21 | g.43065661_43065663delinsCCA | CA2579809583 | CBS | c.484_486delinsTGG (p.Gly162Trp) n.795_797delinsTGG c.535_537delinsTGG (p.Gly179Trp) c.169_171delinsTGG (p.Gly57Trp) n.855_857delinsTGG n.634_636delinsTGG | |
21 | g.43065662C>A | CA410601435 | CBS | c.485G>T (p.Gly162Val) n.796G>T c.536G>T (p.Gly179Val) c.170G>T (p.Gly57Val) n.856G>T n.635G>T | |
21 | g.43065662C>G | CA410601437 | CBS | c.485G>C (p.Gly162Ala) n.796G>C c.536G>C (p.Gly179Ala) c.170G>C (p.Gly57Ala) n.856G>C n.635G>C | |
21 | g.43065662C>T | CA410601438 | CBS | c.485G>A (p.Gly162Asp) n.796G>A c.536G>A (p.Gly179Asp) c.170G>A (p.Gly57Asp) n.856G>A n.635G>A | gnomAD v4 |
21 | g.43065662_43065663delinsGA | CA2579809584 | CBS | c.484_485delinsTC (p.Gly162Ser) n.795_796delinsTC c.535_536delinsTC (p.Gly179Ser) c.169_170delinsTC (p.Gly57Ser) n.855_856delinsTC n.634_635delinsTC | |
21 | g.43065662_43065663delinsTA | CA2579809582 | CBS | c.484_485delinsTA (p.Gly162Tyr) n.795_796delinsTA c.535_536delinsTA (p.Gly179Tyr) c.169_170delinsTA (p.Gly57Tyr) n.855_856delinsTA n.634_635delinsTA | |
21 | g.43065663_43065665dup | CA920313692 | CBS | c.483_485dup (p.Gly162_Tyr163insGly) n.794_796dup c.534_536dup (p.Gly179_Tyr180insGly) c.168_170dup (p.Gly57_Tyr58insGly) n.854_856dup n.633_635dup | dbSNP |
21 | g.43065663C>A | CA410601440 | CBS | c.484G>T (p.Gly162Cys) n.795G>T c.535G>T (p.Gly179Cys) c.169G>T (p.Gly57Cys) n.855G>T n.634G>T | |
21 | g.43065663C= | CA2391103876 | CBS | c.484G= (p.Gly162=) n.795G= c.535G= (p.Gly179=) c.169G= (p.Gly57=) n.855G= n.634G= | |
21 | g.43065663C>G | CA410601442 | CBS | c.484G>C (p.Gly162Arg) n.795G>C c.535G>C (p.Gly179Arg) c.169G>C (p.Gly57Arg) n.855G>C n.634G>C | |
21 | g.43065663C>T | CA321096685 | CBS | c.484G>A (p.Gly162Ser) n.795G>A c.535G>A (p.Gly179Ser) c.169G>A (p.Gly57Ser) n.855G>A n.634G>A | dbSNP gnomAD v4 |
21 | g.43065664C>A | CA410601444 | CBS | c.483G>T (p.Arg161Ser) n.794G>T c.534G>T (p.Arg178Ser) c.168G>T (p.Arg56Ser) n.854G>T n.633G>T | |
21 | g.43065664C= | CA2391103877 | CBS | c.483G= (p.Arg161=) n.794G= c.534G= (p.Arg178=) c.168G= (p.Arg56=) n.854G= n.633G= | |
21 | g.43065664C>G | CA410601445 | CBS | c.483G>C (p.Arg161Ser) n.794G>C c.534G>C (p.Arg178Ser) c.168G>C (p.Arg56Ser) n.854G>C n.633G>C | |
21 | g.43065664C>T | CA749580066 | CBS | c.483G>A (p.Arg161=) n.794G>A c.534G>A (p.Arg178=) c.168G>A (p.Arg56=) n.854G>A n.633G>A | dbSNP |
21 | g.43065664_43065665delinsAG | CA2579812158 | CBS | c.482_483delinsCT (p.Arg161Thr) n.793_794delinsCT c.533_534delinsCT (p.Arg178Thr) c.167_168delinsCT (p.Arg56Thr) n.853_854delinsCT n.632_633delinsCT | |
21 | g.43065664_43065666delinsAAC | CA2579812156 | CBS | c.481_483delinsGTT (p.Arg161Val) n.792_794delinsGTT c.532_534delinsGTT (p.Arg178Val) c.166_168delinsGTT (p.Arg56Val) n.852_854delinsGTT n.631_633delinsGTT | |
21 | g.43065664_43065666delinsAAG | CA2579812163 | CBS | c.481_483delinsCTT (p.Arg161Leu) n.792_794delinsCTT c.532_534delinsCTT (p.Arg178Leu) c.166_168delinsCTT (p.Arg56Leu) n.852_854delinsCTT n.631_633delinsCTT | |
21 | g.43065664_43065666delinsACA | CA2579812168 | CBS | c.481_483delinsTGT (p.Arg161Cys) n.792_794delinsTGT c.532_534delinsTGT (p.Arg178Cys) c.166_168delinsTGT (p.Arg56Cys) n.852_854delinsTGT n.631_633delinsTGT | |
21 | g.43065664_43065666delinsACC | CA2579812164 | CBS | c.481_483delinsGGT (p.Arg161Gly) n.792_794delinsGGT c.532_534delinsGGT (p.Arg178Gly) c.166_168delinsGGT (p.Arg56Gly) n.852_854delinsGGT n.631_633delinsGGT | |
21 | g.43065664_43065666delinsAGA | CA2579812161 | CBS | c.481_483delinsTCT (p.Arg161Ser) n.792_794delinsTCT c.532_534delinsTCT (p.Arg178Ser) c.166_168delinsTCT (p.Arg56Ser) n.852_854delinsTCT n.631_633delinsTCT | |
21 | g.43065664_43065666delinsATC | CA2579812169 | CBS | c.481_483delinsGAT (p.Arg161Asp) n.792_794delinsGAT c.532_534delinsGAT (p.Arg178Asp) c.166_168delinsGAT (p.Arg56Asp) n.852_854delinsGAT n.631_633delinsGAT | |
21 | g.43065664_43065666delinsTCA | CA2579812160 | CBS | c.481_483delinsTGA (p.Arg161Ter) n.792_794delinsTGA c.532_534delinsTGA (p.Arg178Ter) c.166_168delinsTGA (p.Arg56Ter) n.852_854delinsTGA n.631_633delinsTGA | |
21 | g.43065664_43065666delinsTCC | CA2579812165 | CBS | c.481_483delinsGGA (p.Arg161Gly) n.792_794delinsGGA c.532_534delinsGGA (p.Arg178Gly) c.166_168delinsGGA (p.Arg56Gly) n.852_854delinsGGA n.631_633delinsGGA | |
21 | g.43065664_43065666delinsTCG | CA2579812167 | CBS | c.481_483delinsCGA (p.Arg161=) n.792_794delinsCGA c.532_534delinsCGA (p.Arg178=) c.166_168delinsCGA (p.Arg56=) n.852_854delinsCGA n.631_633delinsCGA | |
21 | g.43065665C>A | CA410601448 | CBS | c.482G>T (p.Arg161Met) n.793G>T c.533G>T (p.Arg178Met) c.167G>T (p.Arg56Met) n.853G>T n.632G>T | |
21 | g.43065665C>G | CA410601451 | CBS | c.482G>C (p.Arg161Thr) n.793G>C c.533G>C (p.Arg178Thr) c.167G>C (p.Arg56Thr) n.853G>C n.632G>C | |
21 | g.43065665C>T | CA410601449 | CBS | c.482G>A (p.Arg161Lys) n.793G>A c.533G>A (p.Arg178Lys) c.167G>A (p.Arg56Lys) n.853G>A n.632G>A | gnomAD v4 |
21 | g.43065665_43065666delinsAA | CA2579812162 | CBS | c.481_482delinsTT (p.Arg161Leu) n.792_793delinsTT c.532_533delinsTT (p.Arg178Leu) c.166_167delinsTT (p.Arg56Leu) n.852_853delinsTT n.631_632delinsTT | |
21 | g.43065665_43065666delinsAC | CA2579812157 | CBS | c.481_482delinsGT (p.Arg161Val) n.792_793delinsGT c.532_533delinsGT (p.Arg178Val) c.166_167delinsGT (p.Arg56Val) n.852_853delinsGT n.631_632delinsGT | |
21 | g.43065665_43065666delinsTA | CA2579812159 | CBS | c.481_482delinsTA (p.Arg161Ter) n.792_793delinsTA c.532_533delinsTA (p.Arg178Ter) c.166_167delinsTA (p.Arg56Ter) n.852_853delinsTA n.631_632delinsTA | |
21 | g.43065665_43065666delinsTC | CA2579812166 | CBS | c.481_482delinsGA (p.Arg161Glu) n.792_793delinsGA c.532_533delinsGA (p.Arg178Glu) c.166_167delinsGA (p.Arg56Glu) n.852_853delinsGA n.631_632delinsGA | |
21 | g.43065666del | CA2573157483 | CBS | c.481del (p.Arg161GlyfsTer8) n.792del c.532del (p.Arg178GlyfsTer8) c.166del (p.Arg56GlyfsTer8) n.852del n.631del | ClinVar dbSNP |
21 | g.43065666T>A | CA410601452 | CBS | c.481A>T (p.Arg161Trp) n.792A>T c.532A>T (p.Arg178Trp) c.166A>T (p.Arg56Trp) n.852A>T n.631A>T | |
21 | g.43065666T>C | CA410601453 | CBS | c.481A>G (p.Arg161Gly) n.792A>G c.532A>G (p.Arg178Gly) c.166A>G (p.Arg56Gly) n.852A>G n.631A>G | |
21 | g.43065667C= | CA2391103878 | CBS | c.480G= (p.Val160=) n.791G= c.531G= (p.Val177=) c.165G= (p.Val55=) n.851G= n.630G= | |
21 | g.43065667C>T | CA749580067 | CBS | c.480G>A (p.Val160=) n.791G>A c.531G>A (p.Val177=) c.165G>A (p.Val55=) n.851G>A n.630G>A | dbSNP |
21 | g.43065667_43065668delinsAC | CA2579803324 | CBS | c.479_480delinsGT (p.Val160Gly) n.790_791delinsGT c.530_531delinsGT (p.Val177Gly) c.164_165delinsGT (p.Val55Gly) n.850_851delinsGT n.629_630delinsGT | |
21 | g.43065667_43065668delinsAG | CA2579803331 | CBS | c.479_480delinsCT (p.Val160Ala) n.790_791delinsCT c.530_531delinsCT (p.Val177Ala) c.164_165delinsCT (p.Val55Ala) n.850_851delinsCT n.629_630delinsCT | |
21 | g.43065667_43065668delinsAT | CA2579803329 | CBS | c.479_480delinsAT (p.Val160Asp) n.790_791delinsAT c.530_531delinsAT (p.Val177Asp) c.164_165delinsAT (p.Val55Asp) n.850_851delinsAT n.629_630delinsAT | |
21 | g.43065667_43065669delinsAAA | CA2579803320 | CBS | c.478_480delinsTTT (p.Val160Phe) n.789_791delinsTTT c.529_531delinsTTT (p.Val177Phe) c.163_165delinsTTT (p.Val55Phe) n.849_851delinsTTT n.628_630delinsTTT | |
21 | g.43065667_43065669delinsAAT | CA2579803323 | CBS | c.478_480delinsATT (p.Val160Ile) n.789_791delinsATT c.529_531delinsATT (p.Val177Ile) c.163_165delinsATT (p.Val55Ile) n.849_851delinsATT n.628_630delinsATT | |
21 | g.43065667_43065669delinsACA | CA2579803328 | CBS | c.478_480delinsTGT (p.Val160Cys) n.789_791delinsTGT c.529_531delinsTGT (p.Val177Cys) c.163_165delinsTGT (p.Val55Cys) n.849_851delinsTGT n.628_630delinsTGT | |
21 | g.43065667_43065669delinsACG | CA2579803330 | CBS | c.478_480delinsCGT (p.Val160Arg) n.789_791delinsCGT c.529_531delinsCGT (p.Val177Arg) c.163_165delinsCGT (p.Val55Arg) n.849_851delinsCGT n.628_630delinsCGT | |
21 | g.43065667_43065669delinsAGA | CA2579803317 | CBS | c.478_480delinsTCT (p.Val160Ser) n.789_791delinsTCT c.529_531delinsTCT (p.Val177Ser) c.163_165delinsTCT (p.Val55Ser) n.849_851delinsTCT n.628_630delinsTCT | |
21 | g.43065667_43065669delinsAGG | CA2579803319 | CBS | c.478_480delinsCCT (p.Val160Pro) n.789_791delinsCCT c.529_531delinsCCT (p.Val177Pro) c.163_165delinsCCT (p.Val55Pro) n.849_851delinsCCT n.628_630delinsCCT | |
21 | g.43065667_43065669delinsATG | CA2579803325 | CBS | c.478_480delinsCAT (p.Val160His) n.789_791delinsCAT c.529_531delinsCAT (p.Val177His) c.163_165delinsCAT (p.Val55His) n.849_851delinsCAT n.628_630delinsCAT | |
21 | g.43065667_43065669delinsTAA | CA2579803322 | CBS | c.478_480delinsTTA (p.Val160Leu) n.789_791delinsTTA c.529_531delinsTTA (p.Val177Leu) c.163_165delinsTTA (p.Val55Leu) n.849_851delinsTTA n.628_630delinsTTA | |
21 | g.43065668A>C | CA410601454 | CBS | c.479T>G (p.Val160Gly) n.790T>G c.530T>G (p.Val177Gly) c.164T>G (p.Val55Gly) n.850T>G n.629T>G | |
21 | g.43065668A>G | CA410601455 | CBS | c.479T>C (p.Val160Ala) n.790T>C c.530T>C (p.Val177Ala) c.164T>C (p.Val55Ala) n.850T>C n.629T>C | |
21 | g.43065668A>T | CA410601457 | CBS | c.479T>A (p.Val160Glu) n.790T>A c.530T>A (p.Val177Glu) c.164T>A (p.Val55Glu) n.850T>A n.629T>A | |
21 | g.43065668_43065669delinsCA | CA2579803314 | CBS | c.478_479delinsTG (p.Val160Trp) n.789_790delinsTG c.529_530delinsTG (p.Val177Trp) c.163_164delinsTG (p.Val55Trp) n.849_850delinsTG n.628_629delinsTG | |
21 | g.43065668_43065669delinsCG | CA2579803333 | CBS | c.478_479delinsCG (p.Val160Arg) n.789_790delinsCG c.529_530delinsCG (p.Val177Arg) c.163_164delinsCG (p.Val55Arg) n.849_850delinsCG n.628_629delinsCG | |
21 | g.43065668_43065669delinsCT | CA2579803327 | CBS | c.478_479delinsAG (p.Val160Arg) n.789_790delinsAG c.529_530delinsAG (p.Val177Arg) c.163_164delinsAG (p.Val55Arg) n.849_850delinsAG n.628_629delinsAG | |
21 | g.43065668_43065669delinsGA | CA2579803316 | CBS | c.478_479delinsTC (p.Val160Ser) n.789_790delinsTC c.529_530delinsTC (p.Val177Ser) c.163_164delinsTC (p.Val55Ser) n.849_850delinsTC n.628_629delinsTC | |
21 | g.43065668_43065669delinsGG | CA2579803318 | CBS | c.478_479delinsCC (p.Val160Pro) n.789_790delinsCC c.529_530delinsCC (p.Val177Pro) c.163_164delinsCC (p.Val55Pro) n.849_850delinsCC n.628_629delinsCC | |
21 | g.43065668_43065669delinsGT | CA2579803315 | CBS | c.478_479delinsAC (p.Val160Thr) n.789_790delinsAC c.529_530delinsAC (p.Val177Thr) c.163_164delinsAC (p.Val55Thr) n.849_850delinsAC n.628_629delinsAC | |
21 | g.43065668_43065669delinsTG | CA2579803326 | CBS | c.478_479delinsCA (p.Val160Gln) n.789_790delinsCA c.529_530delinsCA (p.Val177Gln) c.163_164delinsCA (p.Val55Gln) n.849_850delinsCA n.628_629delinsCA | |
21 | g.43065668_43065669delinsTT | CA2579803321 | CBS | c.478_479delinsAA (p.Val160Lys) n.789_790delinsAA c.529_530delinsAA (p.Val177Lys) c.163_164delinsAA (p.Val55Lys) n.849_850delinsAA n.628_629delinsAA | |
21 | g.43065669C>A | CA410601459 | CBS | c.478G>T (p.Val160Leu) n.789G>T c.529G>T (p.Val177Leu) c.163G>T (p.Val55Leu) n.849G>T n.628G>T | |
21 | g.43065669C>G | CA410601461 | CBS | c.478G>C (p.Val160Leu) n.789G>C c.529G>C (p.Val177Leu) c.163G>C (p.Val55Leu) n.849G>C n.628G>C | |
21 | g.43065669C>T | CA410601462 | CBS | c.478G>A (p.Val160Met) n.789G>A c.529G>A (p.Val177Met) c.163G>A (p.Val55Met) n.849G>A n.628G>A | gnomAD v4 |
21 | g.43065672_43065698del | CA2695230234 | CBS | c.452_478del n.763_789del c.503_529del c.137_163del n.823_849del n.602_628del | |
21 | g.43065670T>A | CA2654728357 | CBS | c.477A>T (p.Ala159=) n.788A>T c.528A>T (p.Ala176=) c.162A>T (p.Ala54=) n.848A>T n.627A>T | gnomAD v4 |
21 | g.43065670T= | CA2391103879 | CBS | c.477A= (p.Ala159=) n.788A= c.528A= (p.Ala176=) c.162A= (p.Ala54=) n.848A= n.627A= | |
21 | g.43065670_43065671delinsAA | CA2579813143 | CBS | c.476_477delinsTT (p.Ala159Val) n.787_788delinsTT c.527_528delinsTT (p.Ala176Val) c.161_162delinsTT (p.Ala54Val) n.847_848delinsTT n.626_627delinsTT | |
21 | g.43065670_43065671delinsAT | CA2579813161 | CBS | c.476_477delinsAT (p.Ala159Asp) n.787_788delinsAT c.527_528delinsAT (p.Ala176Asp) c.161_162delinsAT (p.Ala54Asp) n.847_848delinsAT n.626_627delinsAT | |
21 | g.43065670_43065671delinsCA | CA2579813142 | CBS | c.476_477delinsTG (p.Ala159Val) n.787_788delinsTG c.527_528delinsTG (p.Ala176Val) c.161_162delinsTG (p.Ala54Val) n.847_848delinsTG n.626_627delinsTG | |
21 | g.43065670_43065671delinsCC | CA2579813157 | CBS | c.476_477delinsGG (p.Ala159Gly) n.787_788delinsGG c.527_528delinsGG (p.Ala176Gly) c.161_162delinsGG (p.Ala54Gly) n.847_848delinsGG n.626_627delinsGG | |
21 | g.43065670_43065671delinsCT | CA2579813159 | CBS | c.476_477delinsAG (p.Ala159Glu) n.787_788delinsAG c.527_528delinsAG (p.Ala176Glu) c.161_162delinsAG (p.Ala54Glu) n.847_848delinsAG n.626_627delinsAG | |
21 | g.43065670_43065672delinsAAA | CA2579813151 | CBS | c.475_477delinsTTT (p.Ala159Phe) n.786_788delinsTTT c.526_528delinsTTT (p.Ala176Phe) c.160_162delinsTTT (p.Ala54Phe) n.846_848delinsTTT n.625_627delinsTTT | |
21 | g.43065670_43065672delinsAAG | CA2579813152 | CBS | c.475_477delinsCTT (p.Ala159Leu) n.786_788delinsCTT c.526_528delinsCTT (p.Ala176Leu) c.160_162delinsCTT (p.Ala54Leu) n.846_848delinsCTT n.625_627delinsCTT | |
21 | g.43065670_43065672delinsAAT | CA2579813158 | CBS | c.475_477delinsATT (p.Ala159Ile) n.786_788delinsATT c.526_528delinsATT (p.Ala176Ile) c.160_162delinsATT (p.Ala54Ile) n.846_848delinsATT n.625_627delinsATT | |
21 | g.43065670_43065672delinsACA | CA2579813160 | CBS | c.475_477delinsTGT (p.Ala159Cys) n.786_788delinsTGT c.526_528delinsTGT (p.Ala176Cys) c.160_162delinsTGT (p.Ala54Cys) n.846_848delinsTGT n.625_627delinsTGT | |
21 | g.43065670_43065672delinsACG | CA2579813164 | CBS | c.475_477delinsCGT (p.Ala159Arg) n.786_788delinsCGT c.526_528delinsCGT (p.Ala176Arg) c.160_162delinsCGT (p.Ala54Arg) n.846_848delinsCGT n.625_627delinsCGT | |
21 | g.43065670_43065672delinsACT | CA2579813930 | CBS | c.475_477delinsAGT (p.Ala159Ser) n.786_788delinsAGT c.526_528delinsAGT (p.Ala176Ser) c.160_162delinsAGT (p.Ala54Ser) n.846_848delinsAGT n.625_627delinsAGT | |
21 | g.43065670_43065672delinsAGA | CA2579813149 | CBS | c.475_477delinsTCT (p.Ala159Ser) n.786_788delinsTCT c.526_528delinsTCT (p.Ala176Ser) c.160_162delinsTCT (p.Ala54Ser) n.846_848delinsTCT n.625_627delinsTCT | |
21 | g.43065670_43065672delinsAGT | CA2579813145 | CBS | c.475_477delinsACT (p.Ala159Thr) n.786_788delinsACT c.526_528delinsACT (p.Ala176Thr) c.160_162delinsACT (p.Ala54Thr) n.846_848delinsACT n.625_627delinsACT | |
21 | g.43065670_43065672delinsATA | CA2579813144 | CBS | c.475_477delinsTAT (p.Ala159Tyr) n.786_788delinsTAT c.526_528delinsTAT (p.Ala176Tyr) c.160_162delinsTAT (p.Ala54Tyr) n.846_848delinsTAT n.625_627delinsTAT | |
21 | g.43065670_43065672delinsATT | CA2579813162 | CBS | c.475_477delinsAAT (p.Ala159Asn) n.786_788delinsAAT c.526_528delinsAAT (p.Ala176Asn) c.160_162delinsAAT (p.Ala54Asn) n.846_848delinsAAT n.625_627delinsAAT | |
21 | g.43065670_43065672delinsCAA | CA2579813155 | CBS | c.475_477delinsTTG (p.Ala159Leu) n.786_788delinsTTG c.526_528delinsTTG (p.Ala176Leu) c.160_162delinsTTG (p.Ala54Leu) n.846_848delinsTTG n.625_627delinsTTG | |
21 | g.43065670_43065672delinsCAG | CA2579813153 | CBS | c.475_477delinsCTG (p.Ala159Leu) n.786_788delinsCTG c.526_528delinsCTG (p.Ala176Leu) c.160_162delinsCTG (p.Ala54Leu) n.846_848delinsCTG n.625_627delinsCTG | |
21 | g.43065670_43065672delinsCCA | CA2579813146 | CBS | c.475_477delinsTGG (p.Ala159Trp) n.786_788delinsTGG c.526_528delinsTGG (p.Ala176Trp) c.160_162delinsTGG (p.Ala54Trp) n.846_848delinsTGG n.625_627delinsTGG | |
21 | g.43065670_43065672delinsCCG | CA2579813931 | CBS | c.475_477delinsCGG (p.Ala159Arg) n.786_788delinsCGG c.526_528delinsCGG (p.Ala176Arg) c.160_162delinsCGG (p.Ala54Arg) n.846_848delinsCGG n.625_627delinsCGG | |
21 | g.43065670_43065672delinsCCT | CA2579813163 | CBS | c.475_477delinsAGG (p.Ala159Arg) n.786_788delinsAGG c.526_528delinsAGG (p.Ala176Arg) c.160_162delinsAGG (p.Ala54Arg) n.846_848delinsAGG n.625_627delinsAGG | |
21 | g.43065670_43065672delinsCGT | CA2579813147 | CBS | c.475_477delinsACG (p.Ala159Thr) n.786_788delinsACG c.526_528delinsACG (p.Ala176Thr) c.160_162delinsACG (p.Ala54Thr) n.846_848delinsACG n.625_627delinsACG | |
21 | g.43065670_43065672delinsCTA | CA2579813148 | CBS | c.475_477delinsTAG (p.Ala159Ter) n.786_788delinsTAG c.526_528delinsTAG (p.Ala176Ter) c.160_162delinsTAG (p.Ala54Ter) n.846_848delinsTAG n.625_627delinsTAG | |
21 | g.43065670_43065672delinsGGG | CA2579813150 | CBS | c.475_477delinsCCC (p.Ala159Pro) n.786_788delinsCCC c.526_528delinsCCC (p.Ala176Pro) c.160_162delinsCCC (p.Ala54Pro) n.846_848delinsCCC n.625_627delinsCCC | |
21 | g.43065670_43065691del | CA2573157484 | CBS | c.456_477del (p.Ile152MetfsTer2) n.767_788del c.507_528del (p.Ile169MetfsTer2) c.141_162del (p.Ile47MetfsTer2) n.827_848del n.606_627del | ClinVar dbSNP |
21 | g.43065671del | CA2654728358 | CBS | c.476del (p.Ala159GlufsTer2) n.787del c.527del (p.Ala176GlufsTer2) c.161del (p.Ala54GlufsTer2) n.847del n.626del | gnomAD v4 |
21 | g.43065671G>A | CA410601463 | CBS | c.476C>T (p.Ala159Val) n.787C>T c.527C>T (p.Ala176Val) c.161C>T (p.Ala54Val) n.847C>T n.626C>T | |
21 | g.43065671G>C | CA410601465 | CBS | c.476C>G (p.Ala159Gly) n.787C>G c.527C>G (p.Ala176Gly) c.161C>G (p.Ala54Gly) n.847C>G n.626C>G | |
21 | g.43065671G>T | CA410601467 | CBS | c.476C>A (p.Ala159Glu) n.787C>A c.527C>A (p.Ala176Glu) c.161C>A (p.Ala54Glu) n.847C>A n.626C>A | |
21 | g.43065671_43065672insGGCCTGG | CA2695230235 | CBS | c.476_477insCAGGCCC (p.Val160ArgfsTer30) c.476_477insCAGGCCC (p.Val160ArgfsTer?) n.787_788insCAGGCCC c.527_528insCAGGCCC (p.Val177ArgfsTer30) c.161_162insCAGGCCC (p.Val55ArgfsTer30) n.847_848insCAGGCCC n.626_627insCAGGCCC | |
21 | g.43065671_43065672insGGCCCTGG | CA1139666882 | CBS | c.476_477insCAGGGCCC (p.Val160ArgfsTer4) n.787_788insCAGGGCCC c.527_528insCAGGGCCC (p.Val177ArgfsTer4) c.161_162insCAGGGCCC (p.Val55ArgfsTer4) n.847_848insCAGGGCCC n.626_627insCAGGGCCC | ClinVar dbSNP |
21 | g.43065671_43065672delinsAA | CA2579813154 | CBS | c.475_476delinsTT (p.Ala159Leu) n.786_787delinsTT c.526_527delinsTT (p.Ala176Leu) c.160_161delinsTT (p.Ala54Leu) n.846_847delinsTT n.625_626delinsTT | |
21 | g.43065671_43065672delinsAT | CA2579813156 | CBS | c.475_476delinsAT (p.Ala159Ile) n.786_787delinsAT c.526_527delinsAT (p.Ala176Ile) c.160_161delinsAT (p.Ala54Ile) n.846_847delinsAT n.625_626delinsAT | |
21 | g.43065671_43065672delinsCT | CA2579813166 | CBS | c.475_476delinsAG (p.Ala159Arg) n.786_787delinsAG c.526_527delinsAG (p.Ala176Arg) c.160_161delinsAG (p.Ala54Arg) n.846_847delinsAG n.625_626delinsAG | |
21 | g.43065672C>A | CA410601468 | CBS | c.475G>T (p.Ala159Ser) n.786G>T c.526G>T (p.Ala176Ser) c.160G>T (p.Ala54Ser) n.846G>T n.625G>T | |
21 | g.43065672C= | CA2391103880 | CBS | c.475G= (p.Ala159=) n.786G= c.526G= (p.Ala176=) c.160G= (p.Ala54=) n.846G= n.625G= | |
21 | g.43065672C>G | CA410601469 | CBS | c.475G>C (p.Ala159Pro) n.786G>C c.526G>C (p.Ala176Pro) c.160G>C (p.Ala54Pro) n.846G>C n.625G>C | |
21 | g.43065672C>T | CA410601470 | CBS | c.475G>A (p.Ala159Thr) n.786G>A c.526G>A (p.Ala176Thr) c.160G>A (p.Ala54Thr) n.846G>A n.625G>A | dbSNP |
21 | g.43065673C= | CA2391103881 | CBS | c.474G= (p.Ala158=) n.785G= c.525G= (p.Ala175=) c.159G= (p.Ala53=) n.845G= n.624G= | |
21 | g.43065673C>G | CA2580099037 | CBS | c.474G>C (p.Ala158=) n.785G>C c.525G>C (p.Ala175=) c.159G>C (p.Ala53=) n.845G>C n.624G>C | ClinVar dbSNP |
21 | g.43065673C>T | CA321096692 | CBS | c.474G>A (p.Ala158=) n.785G>A c.525G>A (p.Ala175=) c.159G>A (p.Ala53=) n.845G>A n.624G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43065673_43065674delinsGA | CA2579813165 | CBS | c.473_474delinsTC (p.Ala158Val) n.784_785delinsTC c.524_525delinsTC (p.Ala175Val) c.158_159delinsTC (p.Ala53Val) n.844_845delinsTC n.623_624delinsTC | |
21 | g.43065673_43065674delinsGT | CA2579813173 | CBS | c.473_474delinsAC (p.Ala158Asp) n.784_785delinsAC c.524_525delinsAC (p.Ala175Asp) c.158_159delinsAC (p.Ala53Asp) n.844_845delinsAC n.623_624delinsAC | |
21 | g.43065673_43065675delinsAAA | CA2579813168 | CBS | c.472_474delinsTTT (p.Ala158Phe) n.783_785delinsTTT c.523_525delinsTTT (p.Ala175Phe) c.157_159delinsTTT (p.Ala53Phe) n.843_845delinsTTT n.622_624delinsTTT | |
21 | g.43065673_43065675delinsAAT | CA2579813171 | CBS | c.472_474delinsATT (p.Ala158Ile) n.783_785delinsATT c.523_525delinsATT (p.Ala175Ile) c.157_159delinsATT (p.Ala53Ile) n.843_845delinsATT n.622_624delinsATT | |
21 | g.43065673_43065675delinsACA | CA2579813172 | CBS | c.472_474delinsTGT (p.Ala158Cys) n.783_785delinsTGT c.523_525delinsTGT (p.Ala175Cys) c.157_159delinsTGT (p.Ala53Cys) n.843_845delinsTGT n.622_624delinsTGT | |
21 | g.43065673_43065675delinsACG | CA2579813175 | CBS | c.472_474delinsCGT (p.Ala158Arg) n.783_785delinsCGT c.523_525delinsCGT (p.Ala175Arg) c.157_159delinsCGT (p.Ala53Arg) n.843_845delinsCGT n.622_624delinsCGT | |
21 | g.43065673_43065675delinsAGT | CA2579813167 | CBS | c.472_474delinsACT (p.Ala158Thr) n.783_785delinsACT c.523_525delinsACT (p.Ala175Thr) c.157_159delinsACT (p.Ala53Thr) n.843_845delinsACT n.622_624delinsACT | |
21 | g.43065673_43065675delinsGGT | CA2579813932 | CBS | c.472_474delinsACC (p.Ala158Thr) n.783_785delinsACC c.523_525delinsACC (p.Ala175Thr) c.157_159delinsACC (p.Ala53Thr) n.843_845delinsACC n.622_624delinsACC | |
21 | g.43065673_43065675delinsTGA | CA2579813169 | CBS | c.472_474delinsTCA (p.Ala158Ser) n.783_785delinsTCA c.523_525delinsTCA (p.Ala175Ser) c.157_159delinsTCA (p.Ala53Ser) n.843_845delinsTCA n.622_624delinsTCA | |
21 | g.43065674G>A | CA410601473 | CBS | c.473C>T (p.Ala158Val) n.784C>T c.524C>T (p.Ala175Val) c.158C>T (p.Ala53Val) n.844C>T n.623C>T | ClinVar dbSNP gnomAD v4 |
21 | g.43065674G>C | CA410601476 | CBS | c.473C>G (p.Ala158Gly) n.784C>G c.524C>G (p.Ala175Gly) c.158C>G (p.Ala53Gly) n.844C>G n.623C>G | |
21 | g.43065674G= | CA2391103882 | CBS | c.473C= (p.Ala158=) n.784C= c.524C= (p.Ala175=) c.158C= (p.Ala53=) n.844C= n.623C= | |
21 | g.43065674G>T | CA410601475 | CBS | c.473C>A (p.Ala158Glu) n.784C>A c.524C>A (p.Ala175Glu) c.158C>A (p.Ala53Glu) n.844C>A n.623C>A | dbSNP |
21 | g.43065674_43065675delinsAT | CA2579813170 | CBS | c.472_473delinsAT (p.Ala158Met) n.783_784delinsAT c.523_524delinsAT (p.Ala175Met) c.157_158delinsAT (p.Ala53Met) n.843_844delinsAT n.622_623delinsAT | |
21 | g.43065674_43065675delinsCG | CA2579813174 | CBS | c.472_473delinsCG (p.Ala158Arg) n.783_784delinsCG c.523_524delinsCG (p.Ala175Arg) c.157_158delinsCG (p.Ala53Arg) n.843_844delinsCG n.622_623delinsCG | |
21 | g.43065675C>A | CA410601478 | CBS | c.472G>T (p.Ala158Ser) n.783G>T c.523G>T (p.Ala175Ser) c.157G>T (p.Ala53Ser) n.843G>T n.622G>T | |
21 | g.43065675C>G | CA410601479 | CBS | c.472G>C (p.Ala158Pro) n.783G>C c.523G>C (p.Ala175Pro) c.157G>C (p.Ala53Pro) n.843G>C n.622G>C | |
21 | g.43065675C>T | CA410601481 | CBS | c.472G>A (p.Ala158Thr) n.783G>A c.523G>A (p.Ala175Thr) c.157G>A (p.Ala53Thr) n.843G>A n.622G>A | ClinVar |
21 | g.43065676A>G | CA2579813193 | CBS | c.471T>C (p.Ala157=) n.782T>C c.522T>C (p.Ala174=) c.156T>C (p.Ala52=) n.842T>C n.621T>C | |
21 | g.43065676_43065677delinsCA | CA2579813177 | CBS | c.470_471delinsTG (p.Ala157Val) n.781_782delinsTG c.521_522delinsTG (p.Ala174Val) c.155_156delinsTG (p.Ala52Val) n.841_842delinsTG n.620_621delinsTG | |
21 | g.43065676_43065677delinsCC | CA2579813188 | CBS | c.470_471delinsGG (p.Ala157Gly) n.781_782delinsGG c.521_522delinsGG (p.Ala174Gly) c.155_156delinsGG (p.Ala52Gly) n.841_842delinsGG n.620_621delinsGG | |
21 | g.43065676_43065677delinsCT | CA2579813189 | CBS | c.470_471delinsAG (p.Ala157Glu) n.781_782delinsAG c.521_522delinsAG (p.Ala174Glu) c.155_156delinsAG (p.Ala52Glu) n.841_842delinsAG n.620_621delinsAG | |
21 | g.43065676_43065677delinsGA | CA2579813176 | CBS | c.470_471delinsTC (p.Ala157Val) n.781_782delinsTC c.521_522delinsTC (p.Ala174Val) c.155_156delinsTC (p.Ala52Val) n.841_842delinsTC n.620_621delinsTC | |
21 | g.43065676_43065678delinsCAA | CA2579813185 | CBS | c.469_471delinsTTG (p.Ala157Leu) n.780_782delinsTTG c.520_522delinsTTG (p.Ala174Leu) c.154_156delinsTTG (p.Ala52Leu) n.840_842delinsTTG n.619_621delinsTTG | |
21 | g.43065676_43065678delinsCAT | CA2579813183 | CBS | c.469_471delinsATG (p.Ala157Met) n.780_782delinsATG c.520_522delinsATG (p.Ala174Met) c.154_156delinsATG (p.Ala52Met) n.840_842delinsATG n.619_621delinsATG | |
21 | g.43065676_43065678delinsCCG | CA2579813190 | CBS | c.469_471delinsCGG (p.Ala157Arg) n.780_782delinsCGG c.520_522delinsCGG (p.Ala174Arg) c.154_156delinsCGG (p.Ala52Arg) n.840_842delinsCGG n.619_621delinsCGG | |
21 | g.43065676_43065678delinsCTT | CA2579813184 | CBS | c.469_471delinsAAG (p.Ala157Lys) n.780_782delinsAAG c.520_522delinsAAG (p.Ala174Lys) c.154_156delinsAAG (p.Ala52Lys) n.840_842delinsAAG n.619_621delinsAAG | |
21 | g.43065676_43065678delinsGGA | CA2579813180 | CBS | c.469_471delinsTCC (p.Ala157Ser) n.780_782delinsTCC c.520_522delinsTCC (p.Ala174Ser) c.154_156delinsTCC (p.Ala52Ser) n.840_842delinsTCC n.619_621delinsTCC | |
21 | g.43065676_43065678delinsGGG | CA2579813181 | CBS | c.469_471delinsCCC (p.Ala157Pro) n.780_782delinsCCC c.520_522delinsCCC (p.Ala174Pro) c.154_156delinsCCC (p.Ala52Pro) n.840_842delinsCCC n.619_621delinsCCC | |
21 | g.43065676_43065678delinsGGT | CA2579813179 | CBS | c.469_471delinsACC (p.Ala157Thr) n.780_782delinsACC c.520_522delinsACC (p.Ala174Thr) c.154_156delinsACC (p.Ala52Thr) n.840_842delinsACC n.619_621delinsACC | |
21 | g.43065676_43065678delinsTGG | CA2579813934 | CBS | c.469_471delinsCCA (p.Ala157Pro) n.780_782delinsCCA c.520_522delinsCCA (p.Ala174Pro) c.154_156delinsCCA (p.Ala52Pro) n.840_842delinsCCA n.619_621delinsCCA | |
21 | g.43065677del | CA2654728359 | CBS | c.470del (p.Ala157ValfsTer4) n.781del c.521del (p.Ala174ValfsTer4) c.155del (p.Ala52ValfsTer4) n.841del n.620del | gnomAD v4 |
21 | g.43065677G>A | CA410601483 | CBS | c.470C>T (p.Ala157Val) n.781C>T c.521C>T (p.Ala174Val) c.155C>T (p.Ala52Val) n.841C>T n.620C>T | |
21 | g.43065677G>C | CA410601484 | CBS | c.470C>G (p.Ala157Gly) n.781C>G c.521C>G (p.Ala174Gly) c.155C>G (p.Ala52Gly) n.841C>G n.620C>G | |
21 | g.43065677G>T | CA410601486 | CBS | c.470C>A (p.Ala157Asp) n.781C>A c.521C>A (p.Ala174Asp) c.155C>A (p.Ala52Asp) n.841C>A n.620C>A | |
21 | g.43065677_43065678delinsAA | CA2579813182 | CBS | c.469_470delinsTT (p.Ala157Phe) n.780_781delinsTT c.520_521delinsTT (p.Ala174Phe) c.154_155delinsTT (p.Ala52Phe) n.840_841delinsTT n.619_620delinsTT | |
21 | g.43065677_43065678delinsAG | CA2579813187 | CBS | c.469_470delinsCT (p.Ala157Leu) n.780_781delinsCT c.520_521delinsCT (p.Ala174Leu) c.154_155delinsCT (p.Ala52Leu) n.840_841delinsCT n.619_620delinsCT | |
21 | g.43065677_43065678delinsAT | CA2579813186 | CBS | c.469_470delinsAT (p.Ala157Ile) n.780_781delinsAT c.520_521delinsAT (p.Ala174Ile) c.154_155delinsAT (p.Ala52Ile) n.840_841delinsAT n.619_620delinsAT | |
21 | g.43065677_43065678delinsCA | CA2579813191 | CBS | c.469_470delinsTG (p.Ala157Cys) n.780_781delinsTG c.520_521delinsTG (p.Ala174Cys) c.154_155delinsTG (p.Ala52Cys) n.840_841delinsTG n.619_620delinsTG | |
21 | g.43065677_43065678delinsCG | CA2579813192 | CBS | c.469_470delinsCG (p.Ala157Arg) n.780_781delinsCG c.520_521delinsCG (p.Ala174Arg) c.154_155delinsCG (p.Ala52Arg) n.840_841delinsCG n.619_620delinsCG | |
21 | g.43065677_43065678delinsCT | CA2579813933 | CBS | c.469_470delinsAG (p.Ala157Ser) n.780_781delinsAG c.520_521delinsAG (p.Ala174Ser) c.154_155delinsAG (p.Ala52Ser) n.840_841delinsAG n.619_620delinsAG | |
21 | g.43065677_43065678delinsTA | CA2579813178 | CBS | c.469_470delinsTA (p.Ala157Tyr) n.780_781delinsTA c.520_521delinsTA (p.Ala174Tyr) c.154_155delinsTA (p.Ala52Tyr) n.840_841delinsTA n.619_620delinsTA | |
21 | g.43065678C>A | CA410601488 | CBS | c.469G>T (p.Ala157Ser) n.780G>T c.520G>T (p.Ala174Ser) c.154G>T (p.Ala52Ser) n.840G>T n.619G>T | |
21 | g.43065678C= | CA2391103883 | CBS | c.469G= (p.Ala157=) n.780G= c.520G= (p.Ala174=) c.154G= (p.Ala52=) n.840G= n.619G= | |
21 | g.43065678C>G | CA410601489 | CBS | c.469G>C (p.Ala157Pro) n.780G>C c.520G>C (p.Ala174Pro) c.154G>C (p.Ala52Pro) n.840G>C n.619G>C | |
21 | g.43065678C>T | CA10587952 | CBS | c.469G>A (p.Ala157Thr) n.780G>A c.520G>A (p.Ala174Thr) c.154G>A (p.Ala52Thr) n.840G>A n.619G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43065679C>A | CA2579807879 | CBS | c.468G>T (p.Leu156=) n.779G>T c.519G>T (p.Leu173=) c.153G>T (p.Leu51=) n.839G>T n.618G>T | |
21 | g.43065679C>T | CA2654728360 | CBS | c.468G>A (p.Leu156=) n.779G>A c.519G>A (p.Leu173=) c.153G>A (p.Leu51=) n.839G>A n.618G>A | gnomAD v4 |
21 | g.43065679_43065680delinsAT | CA2579807877 | CBS | c.467_468delinsAT (p.Leu156His) n.778_779delinsAT c.518_519delinsAT (p.Leu173His) c.152_153delinsAT (p.Leu51His) n.838_839delinsAT n.617_618delinsAT | |
21 | g.43065679_43065680delinsCA | CA2391103884 | CBS | c.467_468delinsTG (p.Leu156=) n.778_779delinsTG c.518_519delinsTG (p.Leu173=) c.152_153delinsTG (p.Leu51=) n.838_839delinsTG n.617_618delinsTG | |
21 | g.43065679_43065680delinsTG | CA2579807873 | CBS | c.467_468delinsCA (p.Leu156Pro) n.778_779delinsCA c.518_519delinsCA (p.Leu173Pro) c.152_153delinsCA (p.Leu51Pro) n.838_839delinsCA n.617_618delinsCA | |
21 | g.43065679_43065681delinsAAA | CA2579807875 | CBS | c.466_468delinsTTT (p.Leu156Phe) n.777_779delinsTTT c.517_519delinsTTT (p.Leu173Phe) c.151_153delinsTTT (p.Leu51Phe) n.837_839delinsTTT n.616_618delinsTTT | |
21 | g.43065679_43065681delinsAAT | CA2579807876 | CBS | c.466_468delinsATT (p.Leu156Ile) n.777_779delinsATT c.517_519delinsATT (p.Leu173Ile) c.151_153delinsATT (p.Leu51Ile) n.837_839delinsATT n.616_618delinsATT | |
21 | g.43065679_43065681delinsACC | CA2579807878 | CBS | c.466_468delinsGGT (p.Leu156Gly) n.777_779delinsGGT c.517_519delinsGGT (p.Leu173Gly) c.151_153delinsGGT (p.Leu51Gly) n.837_839delinsGGT n.616_618delinsGGT | |
21 | g.43065679_43065681delinsACT | CA2579807872 | CBS | c.466_468delinsAGT (p.Leu156Ser) n.777_779delinsAGT c.517_519delinsAGT (p.Leu173Ser) c.151_153delinsAGT (p.Leu51Ser) n.837_839delinsAGT n.616_618delinsAGT | |
21 | g.43065679_43065681delinsAGA | CA2579807871 | CBS | c.466_468delinsTCT (p.Leu156Ser) n.777_779delinsTCT c.517_519delinsTCT (p.Leu173Ser) c.151_153delinsTCT (p.Leu51Ser) n.837_839delinsTCT n.616_618delinsTCT | |
21 | g.43065679_43065681delinsATA | CA2579807869 | CBS | c.466_468delinsTAT (p.Leu156Tyr) n.777_779delinsTAT c.517_519delinsTAT (p.Leu173Tyr) c.151_153delinsTAT (p.Leu51Tyr) n.837_839delinsTAT n.616_618delinsTAT | |
21 | g.43065679_43065681delinsTAA | CA2579807880 | CBS | c.466_468delinsTTA (p.Leu156=) n.777_779delinsTTA c.517_519delinsTTA (p.Leu173=) c.151_153delinsTTA (p.Leu51=) n.837_839delinsTTA n.616_618delinsTTA | |
21 | g.43065679_43065681delinsTAT | CA2579807874 | CBS | c.466_468delinsATA (p.Leu156Ile) n.777_779delinsATA c.517_519delinsATA (p.Leu173Ile) c.151_153delinsATA (p.Leu51Ile) n.837_839delinsATA n.616_618delinsATA | |
21 | g.43065680del | CA16042004 | CBS | c.467del (p.Leu156ArgfsTer5) n.778del c.518del (p.Leu173ArgfsTer5) c.152del (p.Leu51ArgfsTer5) n.838del n.617del | ClinVar dbSNP |
21 | g.43065680A= | CA2391103885 | CBS | c.467T= (p.Leu156=) n.778T= c.518T= (p.Leu173=) c.152T= (p.Leu51=) n.838T= n.617T= | |
21 | g.43065680A>C | CA410601493 | CBS | c.467T>G (p.Leu156Arg) n.778T>G c.518T>G (p.Leu173Arg) c.152T>G (p.Leu51Arg) n.838T>G n.617T>G | |
21 | g.43065680A>G | CA321096729 | CBS | c.467T>C (p.Leu156Pro) n.778T>C c.518T>C (p.Leu173Pro) c.152T>C (p.Leu51Pro) n.838T>C n.617T>C | dbSNP |
21 | g.43065680A>T | CA410601491 | CBS | c.467T>A (p.Leu156Gln) n.778T>A c.518T>A (p.Leu173Gln) c.152T>A (p.Leu51Gln) n.838T>A n.617T>A | |
21 | g.43065680_43065681delinsCA | CA2579813616 | CBS | c.466_467delinsTG (p.Leu156Trp) n.777_778delinsTG c.517_518delinsTG (p.Leu173Trp) c.151_152delinsTG (p.Leu51Trp) n.837_838delinsTG n.616_617delinsTG | |
21 | g.43065680_43065681delinsTA | CA2579807870 | CBS | c.466_467delinsTA (p.Leu156Ter) n.777_778delinsTA c.517_518delinsTA (p.Leu173Ter) c.151_152delinsTA (p.Leu51Ter) n.837_838delinsTA n.616_617delinsTA | |
21 | g.43065681G>C | CA410601495 | CBS | c.466C>G (p.Leu156Val) n.777C>G c.517C>G (p.Leu173Val) c.151C>G (p.Leu51Val) n.837C>G n.616C>G | |
21 | g.43065681G>T | CA410601496 | CBS | c.466C>A (p.Leu156Met) n.777C>A c.517C>A (p.Leu173Met) c.151C>A (p.Leu51Met) n.837C>A n.616C>A | |
21 | g.43065682G>A | CA2573157485 | CBS | c.465C>T (p.Ala155=) n.776C>T c.516C>T (p.Ala172=) c.150C>T (p.Ala50=) n.836C>T n.615C>T | ClinVar dbSNP |
21 | g.43065682G= | CA2391103886 | CBS | c.465C= (p.Ala155=) n.776C= c.516C= (p.Ala172=) c.150C= (p.Ala50=) n.836C= n.615C= | |
21 | g.43065682G>T | CA321096740 | CBS | c.465C>A (p.Ala155=) n.776C>A c.516C>A (p.Ala172=) c.150C>A (p.Ala50=) n.836C>A n.615C>A | ClinVar dbSNP |
21 | g.43065682_43065683delinsAC | CA2579813207 | CBS | c.464_465delinsGT (p.Ala155Gly) n.775_776delinsGT c.515_516delinsGT (p.Ala172Gly) c.149_150delinsGT (p.Ala50Gly) n.835_836delinsGT n.614_615delinsGT | |
21 | g.43065682_43065683delinsAT | CA2579813213 | CBS | c.464_465delinsAT (p.Ala155Asp) n.775_776delinsAT c.515_516delinsAT (p.Ala172Asp) c.149_150delinsAT (p.Ala50Asp) n.835_836delinsAT n.614_615delinsAT | |
21 | g.43065682_43065683delinsCA | CA2579813195 | CBS | c.464_465delinsTG (p.Ala155Val) n.775_776delinsTG c.515_516delinsTG (p.Ala172Val) c.149_150delinsTG (p.Ala50Val) n.835_836delinsTG n.614_615delinsTG | |
21 | g.43065682_43065683delinsCC | CA2579813208 | CBS | c.464_465delinsGG (p.Ala155Gly) n.775_776delinsGG c.515_516delinsGG (p.Ala172Gly) c.149_150delinsGG (p.Ala50Gly) n.835_836delinsGG n.614_615delinsGG | |
21 | g.43065682_43065683delinsCT | CA2579813209 | CBS | c.464_465delinsAG (p.Ala155Glu) n.775_776delinsAG c.515_516delinsAG (p.Ala172Glu) c.149_150delinsAG (p.Ala50Glu) n.835_836delinsAG n.614_615delinsAG | |
21 | g.43065682_43065684delinsAAT | CA2579813205 | CBS | c.463_465delinsATT (p.Ala155Ile) n.774_776delinsATT c.514_516delinsATT (p.Ala172Ile) c.148_150delinsATT (p.Ala50Ile) n.834_836delinsATT n.613_615delinsATT | |
21 | g.43065682_43065684delinsACA | CA2579813210 | CBS | c.463_465delinsTGT (p.Ala155Cys) n.774_776delinsTGT c.514_516delinsTGT (p.Ala172Cys) c.148_150delinsTGT (p.Ala50Cys) n.834_836delinsTGT n.613_615delinsTGT | |
21 | g.43065682_43065684delinsACG | CA2579813214 | CBS | c.463_465delinsCGT (p.Ala155Arg) n.774_776delinsCGT c.514_516delinsCGT (p.Ala172Arg) c.148_150delinsCGT (p.Ala50Arg) n.834_836delinsCGT n.613_615delinsCGT | |
21 | g.43065682_43065684delinsACT | CA2579813199 | CBS | c.463_465delinsAGT (p.Ala155Ser) n.774_776delinsAGT c.514_516delinsAGT (p.Ala172Ser) c.148_150delinsAGT (p.Ala50Ser) n.834_836delinsAGT n.613_615delinsAGT | |
21 | g.43065682_43065684delinsAGA | CA2579813200 | CBS | c.463_465delinsTCT (p.Ala155Ser) n.774_776delinsTCT c.514_516delinsTCT (p.Ala172Ser) c.148_150delinsTCT (p.Ala50Ser) n.834_836delinsTCT n.613_615delinsTCT | |
21 | g.43065682_43065684delinsAGT | CA2579813197 | CBS | c.463_465delinsACT (p.Ala155Thr) n.774_776delinsACT c.514_516delinsACT (p.Ala172Thr) c.148_150delinsACT (p.Ala50Thr) n.834_836delinsACT n.613_615delinsACT | |
21 | g.43065682_43065684delinsATT | CA2579813211 | CBS | c.463_465delinsAAT (p.Ala155Asn) n.774_776delinsAAT c.514_516delinsAAT (p.Ala172Asn) c.148_150delinsAAT (p.Ala50Asn) n.834_836delinsAAT n.613_615delinsAAT | |
21 | g.43065682_43065684delinsCAA | CA2579813204 | CBS | c.463_465delinsTTG (p.Ala155Leu) n.774_776delinsTTG c.514_516delinsTTG (p.Ala172Leu) c.148_150delinsTTG (p.Ala50Leu) n.834_836delinsTTG n.613_615delinsTTG | |
21 | g.43065682_43065684delinsCAT | CA2579813202 | CBS | c.463_465delinsATG (p.Ala155Met) n.774_776delinsATG c.514_516delinsATG (p.Ala172Met) c.148_150delinsATG (p.Ala50Met) n.834_836delinsATG n.613_615delinsATG | |
21 | g.43065682_43065684delinsCCA | CA2579813194 | CBS | c.463_465delinsTGG (p.Ala155Trp) n.774_776delinsTGG c.514_516delinsTGG (p.Ala172Trp) c.148_150delinsTGG (p.Ala50Trp) n.834_836delinsTGG n.613_615delinsTGG | |
21 | g.43065682_43065684delinsCCG | CA2579813215 | CBS | c.463_465delinsCGG (p.Ala155Arg) n.774_776delinsCGG c.514_516delinsCGG (p.Ala172Arg) c.148_150delinsCGG (p.Ala50Arg) n.834_836delinsCGG n.613_615delinsCGG | |
21 | g.43065682_43065684delinsCCT | CA2579813212 | CBS | c.463_465delinsAGG (p.Ala155Arg) n.774_776delinsAGG c.514_516delinsAGG (p.Ala172Arg) c.148_150delinsAGG (p.Ala50Arg) n.834_836delinsAGG n.613_615delinsAGG | |
21 | g.43065682_43065684delinsCGG | CA2579813936 | CBS | c.463_465delinsCCG (p.Ala155Pro) n.774_776delinsCCG c.514_516delinsCCG (p.Ala172Pro) c.148_150delinsCCG (p.Ala50Pro) n.834_836delinsCCG n.613_615delinsCCG | |
21 | g.43065682_43065684delinsCGT | CA2579813196 | CBS | c.463_465delinsACG (p.Ala155Thr) n.774_776delinsACG c.514_516delinsACG (p.Ala172Thr) c.148_150delinsACG (p.Ala50Thr) n.834_836delinsACG n.613_615delinsACG | |
21 | g.43065682_43065684delinsCTT | CA2579813203 | CBS | c.463_465delinsAAG (p.Ala155Lys) n.774_776delinsAAG c.514_516delinsAAG (p.Ala172Lys) c.148_150delinsAAG (p.Ala50Lys) n.834_836delinsAAG n.613_615delinsAAG | |
21 | g.43065682_43065684delinsTTA | CA2579813935 | CBS | c.463_465delinsTAA (p.Ala155Ter) n.774_776delinsTAA c.514_516delinsTAA (p.Ala172Ter) c.148_150delinsTAA (p.Ala50Ter) n.834_836delinsTAA n.613_615delinsTAA | |
21 | g.43065683G>A | CA410601498 | CBS | c.464C>T (p.Ala155Val) n.775C>T c.515C>T (p.Ala172Val) c.149C>T (p.Ala50Val) n.835C>T n.614C>T | |
21 | g.43065683G>C | CA410601500 | CBS | c.464C>G (p.Ala155Gly) n.775C>G c.515C>G (p.Ala172Gly) c.149C>G (p.Ala50Gly) n.835C>G n.614C>G | |
21 | g.43065683G>T | CA410601502 | CBS | c.464C>A (p.Ala155Asp) n.775C>A c.515C>A (p.Ala172Asp) c.149C>A (p.Ala50Asp) n.835C>A n.614C>A | |
21 | g.43065683_43065684delinsAA | CA2579813201 | CBS | c.463_464delinsTT (p.Ala155Phe) n.774_775delinsTT c.514_515delinsTT (p.Ala172Phe) c.148_149delinsTT (p.Ala50Phe) n.834_835delinsTT n.613_614delinsTT | |
21 | g.43065683_43065684delinsAT | CA2579813206 | CBS | c.463_464delinsAT (p.Ala155Ile) n.774_775delinsAT c.514_515delinsAT (p.Ala172Ile) c.148_149delinsAT (p.Ala50Ile) n.834_835delinsAT n.613_614delinsAT | |
21 | g.43065683_43065684delinsCT | CA2579813198 | CBS | c.463_464delinsAG (p.Ala155Ser) n.774_775delinsAG c.514_515delinsAG (p.Ala172Ser) c.148_149delinsAG (p.Ala50Ser) n.834_835delinsAG n.613_614delinsAG | |
21 | g.43065684C>A | CA410601507 | CBS | c.463G>T (p.Ala155Ser) n.774G>T c.514G>T (p.Ala172Ser) c.148G>T (p.Ala50Ser) n.834G>T n.613G>T | |
21 | g.43065684C= | CA2391103887 | CBS | c.463G= (p.Ala155=) n.774G= c.514G= (p.Ala172=) c.148G= (p.Ala50=) n.834G= n.613G= | |
21 | g.43065684C>G | CA410601504 | CBS | c.463G>C (p.Ala155Pro) n.774G>C c.514G>C (p.Ala172Pro) c.148G>C (p.Ala50Pro) n.834G>C n.613G>C | |
21 | g.43065684C>T | CA410601506 | CBS | c.463G>A (p.Ala155Thr) n.774G>A c.514G>A (p.Ala172Thr) c.148G>A (p.Ala50Thr) n.834G>A n.613G>A | ClinVar dbSNP gnomAD v4 |
21 | g.43065685_43065686delinsAC | CA2579807892 | CBS | c.461_462delinsGT (p.Leu154Arg) n.772_773delinsGT c.512_513delinsGT (p.Leu171Arg) c.146_147delinsGT (p.Leu49Arg) n.832_833delinsGT n.611_612delinsGT | |
21 | g.43065685_43065686delinsAG | CA2579807886 | CBS | c.461_462delinsCT (p.Leu154Pro) n.772_773delinsCT c.512_513delinsCT (p.Leu171Pro) c.146_147delinsCT (p.Leu49Pro) n.832_833delinsCT n.611_612delinsCT | |
21 | g.43065685_43065687delinsAAA | CA2579807887 | CBS | c.460_462delinsTTT (p.Leu154Phe) n.771_773delinsTTT c.511_513delinsTTT (p.Leu171Phe) c.145_147delinsTTT (p.Leu49Phe) n.831_833delinsTTT n.610_612delinsTTT | |
21 | g.43065685_43065687delinsAAC | CA2579807882 | CBS | c.460_462delinsGTT (p.Leu154Val) n.771_773delinsGTT c.511_513delinsGTT (p.Leu171Val) c.145_147delinsGTT (p.Leu49Val) n.831_833delinsGTT n.610_612delinsGTT | |
21 | g.43065685_43065687delinsAAT | CA2579807889 | CBS | c.460_462delinsATT (p.Leu154Ile) n.771_773delinsATT c.511_513delinsATT (p.Leu171Ile) c.145_147delinsATT (p.Leu49Ile) n.831_833delinsATT n.610_612delinsATT | |
21 | g.43065685_43065687delinsACC | CA2579807888 | CBS | c.460_462delinsGGT (p.Leu154Gly) n.771_773delinsGGT c.511_513delinsGGT (p.Leu171Gly) c.145_147delinsGGT (p.Leu49Gly) n.831_833delinsGGT n.610_612delinsGGT | |
21 | g.43065685_43065687delinsACT | CA2579807884 | CBS | c.460_462delinsAGT (p.Leu154Ser) n.771_773delinsAGT c.511_513delinsAGT (p.Leu171Ser) c.145_147delinsAGT (p.Leu49Ser) n.831_833delinsAGT n.610_612delinsAGT | |
21 | g.43065685_43065687delinsAGC | CA2579813618 | CBS | c.460_462delinsGCT (p.Leu154Ala) n.771_773delinsGCT c.511_513delinsGCT (p.Leu171Ala) c.145_147delinsGCT (p.Leu49Ala) n.831_833delinsGCT n.610_612delinsGCT | |
21 | g.43065685_43065687delinsATT | CA2579807891 | CBS | c.460_462delinsAAT (p.Leu154Asn) n.771_773delinsAAT c.511_513delinsAAT (p.Leu171Asn) c.145_147delinsAAT (p.Leu49Asn) n.831_833delinsAAT n.610_612delinsAAT | |
21 | g.43065685_43065687delinsTAA | CA2579807893 | CBS | c.460_462delinsTTA (p.Leu154=) n.771_773delinsTTA c.511_513delinsTTA (p.Leu171=) c.145_147delinsTTA (p.Leu49=) n.831_833delinsTTA n.610_612delinsTTA | |
21 | g.43065686A>C | CA410601508 | CBS | c.461T>G (p.Leu154Arg) n.772T>G c.512T>G (p.Leu171Arg) c.146T>G (p.Leu49Arg) n.832T>G n.611T>G | |
21 | g.43065686A>G | CA410601510 | CBS | c.461T>C (p.Leu154Pro) n.772T>C c.512T>C (p.Leu171Pro) c.146T>C (p.Leu49Pro) n.832T>C n.611T>C | |
21 | g.43065686A>T | CA410601512 | CBS | c.461T>A (p.Leu154Gln) n.772T>A c.512T>A (p.Leu171Gln) c.146T>A (p.Leu49Gln) n.832T>A n.611T>A | |
21 | g.43065686_43065687delinsCA | CA2579807883 | CBS | c.460_461delinsTG (p.Leu154Trp) n.771_772delinsTG c.511_512delinsTG (p.Leu171Trp) c.145_146delinsTG (p.Leu49Trp) n.831_832delinsTG n.610_611delinsTG | |
21 | g.43065686_43065687delinsCT | CA2579807894 | CBS | c.460_461delinsAG (p.Leu154Arg) n.771_772delinsAG c.511_512delinsAG (p.Leu171Arg) c.145_146delinsAG (p.Leu49Arg) n.831_832delinsAG n.610_611delinsAG | |
21 | g.43065686_43065687delinsGA | CA2579807885 | CBS | c.460_461delinsTC (p.Leu154Ser) n.771_772delinsTC c.511_512delinsTC (p.Leu171Ser) c.145_146delinsTC (p.Leu49Ser) n.831_832delinsTC n.610_611delinsTC | |
21 | g.43065686_43065687delinsGT | CA2579807881 | CBS | c.460_461delinsAC (p.Leu154Thr) n.771_772delinsAC c.511_512delinsAC (p.Leu171Thr) c.145_146delinsAC (p.Leu49Thr) n.831_832delinsAC n.610_611delinsAC | |
21 | g.43065686_43065687delinsTA | CA2579813617 | CBS | c.460_461delinsTA (p.Leu154Ter) n.771_772delinsTA c.511_512delinsTA (p.Leu171Ter) c.145_146delinsTA (p.Leu49Ter) n.831_832delinsTA n.610_611delinsTA | |
21 | g.43065686_43065687delinsTC | CA2579807890 | CBS | c.460_461delinsGA (p.Leu154Glu) n.771_772delinsGA c.511_512delinsGA (p.Leu171Glu) c.145_146delinsGA (p.Leu49Glu) n.831_832delinsGA n.610_611delinsGA | |
21 | g.43065687G>A | CA2579807895 | CBS | c.460C>T (p.Leu154=) n.771C>T c.511C>T (p.Leu171=) c.145C>T (p.Leu49=) n.831C>T n.610C>T | |
21 | g.43065687G>C | CA410601513 | CBS | c.460C>G (p.Leu154Val) n.771C>G c.511C>G (p.Leu171Val) c.145C>G (p.Leu49Val) n.831C>G n.610C>G | |
21 | g.43065687G>T | CA410601515 | CBS | c.460C>A (p.Leu154Met) n.771C>A c.511C>A (p.Leu171Met) c.145C>A (p.Leu49Met) n.831C>A n.610C>A | |
21 | g.43065688C>A | CA749580069 | CBS | c.459G>T (p.Gly153=) n.770G>T c.510G>T (p.Gly170=) c.144G>T (p.Gly48=) n.830G>T n.609G>T | dbSNP |
21 | g.43065688C= | CA2391103888 | CBS | c.459G= (p.Gly153=) n.770G= c.510G= (p.Gly170=) c.144G= (p.Gly48=) n.830G= n.609G= | |
21 | g.43065688C>T | CA2579809639 | CBS | c.459G>A (p.Gly153=) n.770G>A c.510G>A (p.Gly170=) c.144G>A (p.Gly48=) n.830G>A n.609G>A | |
21 | g.43065688_43065689delinsAG | CA2579809638 | CBS | c.458_459delinsCT (p.Gly153Ala) n.769_770delinsCT c.509_510delinsCT (p.Gly170Ala) c.143_144delinsCT (p.Gly48Ala) n.829_830delinsCT n.608_609delinsCT | |
21 | g.43065688_43065689delinsTG | CA2579809640 | CBS | c.458_459delinsCA (p.Gly153Ala) n.769_770delinsCA c.509_510delinsCA (p.Gly170Ala) c.143_144delinsCA (p.Gly48Ala) n.829_830delinsCA n.608_609delinsCA | |
21 | g.43065688_43065690delinsAAA | CA2579809595 | CBS | c.457_459delinsTTT (p.Gly153Phe) n.768_770delinsTTT c.508_510delinsTTT (p.Gly170Phe) c.142_144delinsTTT (p.Gly48Phe) n.828_830delinsTTT n.607_609delinsTTT | |
21 | g.43065688_43065690delinsACA | CA2579809635 | CBS | c.457_459delinsTGT (p.Gly153Cys) n.768_770delinsTGT c.508_510delinsTGT (p.Gly170Cys) c.142_144delinsTGT (p.Gly48Cys) n.828_830delinsTGT n.607_609delinsTGT | |
21 | g.43065688_43065690delinsACG | CA2579809637 | CBS | c.457_459delinsCGT (p.Gly153Arg) n.768_770delinsCGT c.508_510delinsCGT (p.Gly170Arg) c.142_144delinsCGT (p.Gly48Arg) n.828_830delinsCGT n.607_609delinsCGT | |
21 | g.43065688_43065690delinsAGT | CA2579809592 | CBS | c.457_459delinsACT (p.Gly153Thr) n.768_770delinsACT c.508_510delinsACT (p.Gly170Thr) c.142_144delinsACT (p.Gly48Thr) n.828_830delinsACT n.607_609delinsACT | |
21 | g.43065688_43065690delinsTCT | CA2579809636 | CBS | c.457_459delinsAGA (p.Gly153Arg) n.768_770delinsAGA c.508_510delinsAGA (p.Gly170Arg) c.142_144delinsAGA (p.Gly48Arg) n.828_830delinsAGA n.607_609delinsAGA | |
21 | g.43065689C>A | CA410601517 | CBS | c.458G>T (p.Gly153Val) n.769G>T c.509G>T (p.Gly170Val) c.143G>T (p.Gly48Val) n.829G>T n.608G>T | |
21 | g.43065689C>G | CA410601520 | CBS | c.458G>C (p.Gly153Ala) n.769G>C c.509G>C (p.Gly170Ala) c.143G>C (p.Gly48Ala) n.829G>C n.608G>C | |
21 | g.43065689C>T | CA410601519 | CBS | c.458G>A (p.Gly153Glu) n.769G>A c.509G>A (p.Gly170Glu) c.143G>A (p.Gly48Glu) n.829G>A n.608G>A | |
21 | g.43065689_43065690delinsAA | CA2579809633 | CBS | c.457_458delinsTT (p.Gly153Leu) n.768_769delinsTT c.508_509delinsTT (p.Gly170Leu) c.142_143delinsTT (p.Gly48Leu) n.828_829delinsTT n.607_608delinsTT | |
21 | g.43065689_43065690delinsAG | CA2579809634 | CBS | c.457_458delinsCT (p.Gly153Leu) n.768_769delinsCT c.508_509delinsCT (p.Gly170Leu) c.142_143delinsCT (p.Gly48Leu) n.828_829delinsCT n.607_608delinsCT | |
21 | g.43065689_43065690delinsAT | CA2579809594 | CBS | c.457_458delinsAT (p.Gly153Met) n.768_769delinsAT c.508_509delinsAT (p.Gly170Met) c.142_143delinsAT (p.Gly48Met) n.828_829delinsAT n.607_608delinsAT | |
21 | g.43065689_43065690delinsGA | CA2579809593 | CBS | c.457_458delinsTC (p.Gly153Ser) n.768_769delinsTC c.508_509delinsTC (p.Gly170Ser) c.142_143delinsTC (p.Gly48Ser) n.828_829delinsTC n.607_608delinsTC | |
21 | g.43065690C>A | CA410601522 | CBS | c.457G>T (p.Gly153Trp) n.768G>T c.508G>T (p.Gly170Trp) c.142G>T (p.Gly48Trp) n.828G>T n.607G>T | |
21 | g.43065690C= | CA2391103889 | CBS | c.457G= (p.Gly153=) n.768G= c.508G= (p.Gly170=) c.142G= (p.Gly48=) n.828G= n.607G= | |
21 | g.43065690C>G | CA410601523 | CBS | c.457G>C (p.Gly153Arg) n.768G>C c.508G>C (p.Gly170Arg) c.142G>C (p.Gly48Arg) n.828G>C n.607G>C | |
21 | g.43065690C>T | CA320011 | CBS | c.457G>A (p.Gly153Arg) n.768G>A c.508G>A (p.Gly170Arg) c.142G>A (p.Gly48Arg) n.828G>A n.607G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
21 | g.43065691G>A | CA16609066 | CBS | c.456C>T (p.Ile152=) n.767C>T c.507C>T (p.Ile169=) c.141C>T (p.Ile47=) n.827C>T n.606C>T | ClinVar dbSNP gnomAD v4 |
21 | g.43065691G>C | CA410601527 | CBS | c.456C>G (p.Ile152Met) n.767C>G c.507C>G (p.Ile169Met) c.141C>G (p.Ile47Met) n.827C>G n.606C>G | ClinVar gnomAD v4 |
21 | g.43065691G= | CA2391103890 | CBS | c.456C= (p.Ile152=) n.767C= c.507C= (p.Ile169=) c.141C= (p.Ile47=) n.827C= n.606C= | |
21 | g.43065691_43065692delinsAC | CA2579808546 | CBS | c.455_456delinsGT (p.Ile152Ser) n.766_767delinsGT c.506_507delinsGT (p.Ile169Ser) c.140_141delinsGT (p.Ile47Ser) n.826_827delinsGT n.605_606delinsGT | |
21 | g.43065691_43065692delinsAG | CA2579808544 | CBS | c.455_456delinsCT (p.Ile152Thr) n.766_767delinsCT c.506_507delinsCT (p.Ile169Thr) c.140_141delinsCT (p.Ile47Thr) n.826_827delinsCT n.605_606delinsCT | |
21 | g.43065691_43065692delinsAT | CA2579808554 | CBS | c.455_456delinsAT (p.Ile152Asn) n.766_767delinsAT c.506_507delinsAT (p.Ile169Asn) c.140_141delinsAT (p.Ile47Asn) n.826_827delinsAT n.605_606delinsAT | |
21 | g.43065691_43065692delinsCC | CA2579808555 | CBS | c.455_456delinsGG (p.Ile152Arg) n.766_767delinsGG c.506_507delinsGG (p.Ile169Arg) c.140_141delinsGG (p.Ile47Arg) n.826_827delinsGG n.605_606delinsGG | |
21 | g.43065691_43065693delinsAAA | CA2579808547 | CBS | c.454_456delinsTTT (p.Ile152Phe) n.765_767delinsTTT c.505_507delinsTTT (p.Ile169Phe) c.139_141delinsTTT (p.Ile47Phe) n.825_827delinsTTT n.604_606delinsTTT | |
21 | g.43065691_43065693delinsAAC | CA2579808543 | CBS | c.454_456delinsGTT (p.Ile152Val) n.765_767delinsGTT c.505_507delinsGTT (p.Ile169Val) c.139_141delinsGTT (p.Ile47Val) n.825_827delinsGTT n.604_606delinsGTT | |
21 | g.43065691_43065693delinsACA | CA2579808553 | CBS | c.454_456delinsTGT (p.Ile152Cys) n.765_767delinsTGT c.505_507delinsTGT (p.Ile169Cys) c.139_141delinsTGT (p.Ile47Cys) n.825_827delinsTGT n.604_606delinsTGT | |
21 | g.43065691_43065693delinsACC | CA2579808550 | CBS | c.454_456delinsGGT (p.Ile152Gly) n.765_767delinsGGT c.505_507delinsGGT (p.Ile169Gly) c.139_141delinsGGT (p.Ile47Gly) n.825_827delinsGGT n.604_606delinsGGT | |
21 | g.43065691_43065693delinsAGC | CA2579808556 | CBS | c.454_456delinsGCT (p.Ile152Ala) n.765_767delinsGCT c.505_507delinsGCT (p.Ile169Ala) c.139_141delinsGCT (p.Ile47Ala) n.825_827delinsGCT n.604_606delinsGCT | |
21 | g.43065691_43065693delinsATC | CA2579808552 | CBS | c.454_456delinsGAT (p.Ile152Asp) n.765_767delinsGAT c.505_507delinsGAT (p.Ile169Asp) c.139_141delinsGAT (p.Ile47Asp) n.825_827delinsGAT n.604_606delinsGAT | |
21 | g.43065691_43065693delinsCAA | CA2579808548 | CBS | c.454_456delinsTTG (p.Ile152Leu) n.765_767delinsTTG c.505_507delinsTTG (p.Ile169Leu) c.139_141delinsTTG (p.Ile47Leu) n.825_827delinsTTG n.604_606delinsTTG | |
21 | g.43065691_43065693delinsCAC | CA2579808541 | CBS | c.454_456delinsGTG (p.Ile152Val) n.765_767delinsGTG c.505_507delinsGTG (p.Ile169Val) c.139_141delinsGTG (p.Ile47Val) n.825_827delinsGTG n.604_606delinsGTG | |
21 | g.43065691_43065693delinsCCA | CA2579808545 | CBS | c.454_456delinsTGG (p.Ile152Trp) n.765_767delinsTGG c.505_507delinsTGG (p.Ile169Trp) c.139_141delinsTGG (p.Ile47Trp) n.825_827delinsTGG n.604_606delinsTGG | |
21 | g.43065691_43065693delinsCCC | CA2579808549 | CBS | c.454_456delinsGGG (p.Ile152Gly) n.765_767delinsGGG c.505_507delinsGGG (p.Ile169Gly) c.139_141delinsGGG (p.Ile47Gly) n.825_827delinsGGG n.604_606delinsGGG | |
21 | g.43065691_43065693delinsCGC | CA2579808557 | CBS | c.454_456delinsGCG (p.Ile152Ala) n.765_767delinsGCG c.505_507delinsGCG (p.Ile169Ala) c.139_141delinsGCG (p.Ile47Ala) n.825_827delinsGCG n.604_606delinsGCG | |
21 | g.43065691_43065693delinsCTC | CA2579808551 | CBS | c.454_456delinsGAG (p.Ile152Glu) n.765_767delinsGAG c.505_507delinsGAG (p.Ile169Glu) c.139_141delinsGAG (p.Ile47Glu) n.825_827delinsGAG n.604_606delinsGAG | |
21 | g.43065692A>C | CA410601528 | CBS | c.455T>G (p.Ile152Ser) n.766T>G c.506T>G (p.Ile169Ser) c.140T>G (p.Ile47Ser) n.826T>G n.605T>G | |
21 | g.43065692A>G | CA410601529 | CBS | c.455T>C (p.Ile152Thr) n.766T>C c.506T>C (p.Ile169Thr) c.140T>C (p.Ile47Thr) n.826T>C n.605T>C | |
21 | g.43065692A>T | CA410601530 | CBS | c.455T>A (p.Ile152Asn) n.766T>A c.506T>A (p.Ile169Asn) c.140T>A (p.Ile47Asn) n.826T>A n.605T>A | |
21 | g.43065693T>A | CA410601533 | CBS | c.454A>T (p.Ile152Phe) n.765A>T c.505A>T (p.Ile169Phe) c.139A>T (p.Ile47Phe) n.825A>T n.604A>T | |
21 | g.43065693T>C | CA410601534 | CBS | c.454A>G (p.Ile152Val) n.765A>G c.505A>G (p.Ile169Val) c.139A>G (p.Ile47Val) n.825A>G n.604A>G | |
21 | g.43065693T>G | CA410601536 | CBS | c.454A>C (p.Ile152Leu) n.765A>C c.505A>C (p.Ile169Leu) c.139A>C (p.Ile47Leu) n.825A>C n.604A>C | |
21 | g.43065694C>A | CA2579809648 | CBS | c.453G>T (p.Gly151=) n.764G>T c.504G>T (p.Gly168=) c.138G>T (p.Gly46=) n.824G>T n.603G>T | |
21 | g.43065694C>G | CA2579809649 | CBS | c.453G>C (p.Gly151=) n.764G>C c.504G>C (p.Gly168=) c.138G>C (p.Gly46=) n.824G>C n.603G>C | |
21 | g.43065694C>T | CA645604508 | CBS | c.453G>A (p.Gly151=) n.764G>A c.504G>A (p.Gly168=) c.138G>A (p.Gly46=) n.824G>A n.603G>A | COSMIC COSMIC |
21 | g.43065695C>A | CA410601541 | CBS | c.452G>T (p.Gly151Val) n.763G>T c.503G>T (p.Gly168Val) c.137G>T (p.Gly46Val) n.823G>T n.602G>T | ClinVar dbSNP |
21 | g.43065695C>G | CA410601539 | CBS | c.452G>C (p.Gly151Ala) n.763G>C c.503G>C (p.Gly168Ala) c.137G>C (p.Gly46Ala) n.823G>C n.602G>C | |
21 | g.43065695C>T | CA410601538 | CBS | c.452G>A (p.Gly151Glu) n.763G>A c.503G>A (p.Gly168Glu) c.137G>A (p.Gly46Glu) n.823G>A n.602G>A | |
21 | g.43065696C>A | CA410601543 | CBS | c.452-1G>T (n.452-1G>T) n.763-1G>T c.503-1G>T (n.503-1G>T) c.137-1G>T (n.137-1G>T) n.823-1G>T n.602-1G>T | |
21 | g.43065696C= | CA2391103891 | CBS | c.452-1G= (n.452-1G=) n.763-1G= c.503-1G= (n.503-1G=) c.137-1G= (n.137-1G=) n.823-1G= n.602-1G= | |
21 | g.43065696C>G | CA410601546 | CBS | c.452-1G>C (n.452-1G>C) n.763-1G>C c.503-1G>C (n.503-1G>C) c.137-1G>C (n.137-1G>C) n.823-1G>C n.602-1G>C | gnomAD v4 |
21 | g.43065696C>T | CA410601544 | CBS | c.452-1G>A (n.452-1G>A) n.763-1G>A c.503-1G>A (n.503-1G>A) c.137-1G>A (n.137-1G>A) n.823-1G>A n.602-1G>A | ClinVar dbSNP |
21 | g.43065697T>A | CA410601548 | CBS | c.452-2A>T (n.452-2A>T) n.763-2A>T c.503-2A>T (n.503-2A>T) c.137-2A>T (n.137-2A>T) n.823-2A>T n.602-2A>T | |
21 | g.43065697T>C | CA410601551 | CBS | c.452-2A>G (n.452-2A>G) n.763-2A>G c.503-2A>G (n.503-2A>G) c.137-2A>G (n.137-2A>G) n.823-2A>G n.602-2A>G | |
21 | g.43065697T>G | CA410601550 | CBS | c.452-2A>C (n.452-2A>C) n.763-2A>C c.503-2A>C (n.503-2A>C) c.137-2A>C (n.137-2A>C) n.823-2A>C n.602-2A>C | ClinVar |
21 | g.43065699A>G | CA2573157486 | CBS | c.452-4T>C (n.452-4T>C) n.763-4T>C c.503-4T>C (n.503-4T>C) c.137-4T>C (n.137-4T>C) n.823-4T>C n.602-4T>C | ClinVar dbSNP |
21 | g.43065701G>A | CA749580076 | CBS | c.452-6C>T (n.452-6C>T) n.763-6C>T c.503-6C>T (n.503-6C>T) c.137-6C>T (n.137-6C>T) n.823-6C>T n.602-6C>T | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43065701G= | CA2391103892 | CBS | c.452-6C= (n.452-6C=) n.763-6C= c.503-6C= (n.503-6C=) c.137-6C= (n.137-6C=) n.823-6C= n.602-6C= | |
21 | g.43065702_43065704delinsGCA | CA2391103893 | CBS | c.452-9_452-7delinsTGC (n.452-9_452-7delinsTGC) n.763-9_763-7delinsTGC c.503-9_503-7delinsTGC (n.503-9_503-7delinsTGC) c.137-9_137-7delinsTGC (n.137-9_137-7delinsTGC) n.823-9_823-7delinsTGC n.602-9_602-7delinsTGC | |
21 | g.43065707_43065708del | CA749580077 | CBS | c.452-9_452-8del (n.452-9_452-8del) n.763-9_763-8del c.503-9_503-8del (n.503-9_503-8del) c.137-9_137-8del (n.137-9_137-8del) n.823-9_823-8del n.602-9_602-8del | dbSNP |
21 | g.43065704A= | CA2391103894 | CBS | c.452-9T= (n.452-9T=) n.763-9T= c.503-9T= (n.503-9T=) c.137-9T= (n.137-9T=) n.823-9T= n.602-9T= | |
21 | g.43065704A>C | CA2391103895 | CBS | c.452-9T>G (n.452-9T>G) n.763-9T>G c.503-9T>G (n.503-9T>G) c.137-9T>G (n.137-9T>G) n.823-9T>G n.602-9T>G | dbSNP |
21 | g.43065707C>A | CA321096761 | CBS | c.452-12G>T (n.452-12G>T) n.763-12G>T c.503-12G>T (n.503-12G>T) c.137-12G>T (n.137-12G>T) n.823-12G>T n.602-12G>T | ClinVar dbSNP gnomAD v4 |
21 | g.43065707C= | CA2391103896 | CBS | c.452-12G= (n.452-12G=) n.763-12G= c.503-12G= (n.503-12G=) c.137-12G= (n.137-12G=) n.823-12G= n.602-12G= | |
21 | g.43065709G>C | CA2740094744 | CBS | c.452-14C>G (n.452-14C>G) n.763-14C>G c.503-14C>G (n.503-14C>G) c.137-14C>G (n.137-14C>G) n.823-14C>G n.602-14C>G | ClinVar |
21 | g.43065709G>T | CA2818001015 | CBS | c.452-14C>A (n.452-14C>A) n.763-14C>A c.503-14C>A (n.503-14C>A) c.137-14C>A (n.137-14C>A) n.823-14C>A n.602-14C>A | |
21 | g.43065711G>A | CA749580079 | CBS | c.452-16C>T (n.452-16C>T) n.763-16C>T c.503-16C>T (n.503-16C>T) c.137-16C>T (n.137-16C>T) n.823-16C>T n.602-16C>T | ClinVar dbSNP gnomAD v4 |
21 | g.43065711G= | CA2391103897 | CBS | c.452-16C= (n.452-16C=) n.763-16C= c.503-16C= (n.503-16C=) c.137-16C= (n.137-16C=) n.823-16C= n.602-16C= | |
21 | g.43065712G>A | CA321096765 | CBS | c.452-17C>T (n.452-17C>T) n.763-17C>T c.503-17C>T (n.503-17C>T) c.137-17C>T (n.137-17C>T) n.823-17C>T n.602-17C>T | ClinVar dbSNP gnomAD v4 |
21 | g.43065712G= | CA2391103898 | CBS | c.452-17C= (n.452-17C=) n.763-17C= c.503-17C= (n.503-17C=) c.137-17C= (n.137-17C=) n.823-17C= n.602-17C= | |
21 | g.43065713G= | CA2391103899 | CBS | c.452-18C= (n.452-18C=) n.763-18C= c.503-18C= (n.503-18C=) c.137-18C= (n.137-18C=) n.823-18C= n.602-18C= | |
21 | g.43065713G>T | CA321096766 | CBS | c.452-18C>A (n.452-18C>A) n.763-18C>A c.503-18C>A (n.503-18C>A) c.137-18C>A (n.137-18C>A) n.823-18C>A n.602-18C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43065714T>C | CA2739267674 | CBS | c.452-19A>G (n.452-19A>G) n.763-19A>G c.503-19A>G (n.503-19A>G) c.137-19A>G (n.137-19A>G) n.823-19A>G n.602-19A>G | ClinVar |
21 | g.43065718_43065719del | CA2654728361 | CBS | c.452-21_452-20del (n.452-21_452-20del) n.763-21_763-20del c.503-21_503-20del (n.503-21_503-20del) c.137-21_137-20del (n.137-21_137-20del) n.823-21_823-20del n.602-21_602-20del | gnomAD v4 |
21 | g.43065717G>A | CA321096767 | CBS | c.452-22C>T (n.452-22C>T) n.763-22C>T c.503-22C>T (n.503-22C>T) c.137-22C>T (n.137-22C>T) n.823-22C>T n.602-22C>T | dbSNP gnomAD v4 |
21 | g.43065717G>C | CA2391103901 | CBS | c.452-22C>G (n.452-22C>G) n.763-22C>G c.503-22C>G (n.503-22C>G) c.137-22C>G (n.137-22C>G) n.823-22C>G n.602-22C>G | dbSNP |
21 | g.43065717G= | CA2391103900 | CBS | c.452-22C= (n.452-22C=) n.763-22C= c.503-22C= (n.503-22C=) c.137-22C= (n.137-22C=) n.823-22C= n.602-22C= | |
21 | g.43065718A= | CA2391103902 | CBS | c.452-23T= (n.452-23T=) n.763-23T= c.503-23T= (n.503-23T=) c.137-23T= (n.137-23T=) n.823-23T= n.602-23T= | |
21 | g.43065718A>C | CA2391103903 | CBS | c.452-23T>G (n.452-23T>G) n.763-23T>G c.503-23T>G (n.503-23T>G) c.137-23T>G (n.137-23T>G) n.823-23T>G n.602-23T>G | dbSNP |
21 | g.43065719G>T | CA2818001017 | CBS | c.452-24C>A (n.452-24C>A) n.763-24C>A c.503-24C>A (n.503-24C>A) c.137-24C>A (n.137-24C>A) n.823-24C>A n.602-24C>A | |
21 | g.43065722dup | CA657667282 | CBS | c.452-24dup (n.452-24dup) n.763-24dup c.503-24dup (n.503-24dup) c.137-24dup (n.137-24dup) n.823-24dup n.602-24dup | COSMIC |
21 | g.43065720G>A | CA321096774 | CBS | c.452-25C>T (n.452-25C>T) n.763-25C>T c.503-25C>T (n.503-25C>T) c.137-25C>T (n.137-25C>T) n.823-25C>T n.602-25C>T | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43065720G= | CA2391103904 | CBS | c.452-25C= (n.452-25C=) n.763-25C= c.503-25C= (n.503-25C=) c.137-25C= (n.137-25C=) n.823-25C= n.602-25C= | |
21 | g.43065720G>T | CA749580082 | CBS | c.452-25C>A (n.452-25C>A) n.763-25C>A c.503-25C>A (n.503-25C>A) c.137-25C>A (n.137-25C>A) n.823-25C>A n.602-25C>A | dbSNP gnomAD v4 |
21 | g.43065721G>T | CA2654728362 | CBS | c.452-26C>A (n.452-26C>A) n.763-26C>A c.503-26C>A (n.503-26C>A) c.137-26C>A (n.137-26C>A) n.823-26C>A n.602-26C>A | gnomAD v4 |
21 | g.43065722G>A | CA2391103906 | CBS | c.452-27C>T (n.452-27C>T) n.763-27C>T c.503-27C>T (n.503-27C>T) c.137-27C>T (n.137-27C>T) n.823-27C>T n.602-27C>T | dbSNP |
21 | g.43065722G= | CA2391103905 | CBS | c.452-27C= (n.452-27C=) n.763-27C= c.503-27C= (n.503-27C=) c.137-27C= (n.137-27C=) n.823-27C= n.602-27C= | |
21 | g.43065722G>T | CA749580085 | CBS | c.452-27C>A (n.452-27C>A) n.763-27C>A c.503-27C>A (n.503-27C>A) c.137-27C>A (n.137-27C>A) n.823-27C>A n.602-27C>A | dbSNP gnomAD v4 |
21 | g.43065722_43065723delinsGC | CA2391103907 | CBS | c.452-28_452-27delinsGC (n.452-28_452-27delinsGC) n.763-28_763-27delinsGC c.503-28_503-27delinsGC (n.503-28_503-27delinsGC) c.137-28_137-27delinsGC (n.137-28_137-27delinsGC) n.823-28_823-27delinsGC n.602-28_602-27delinsGC | |
21 | g.43065723C= | CA2391103908 | CBS | c.452-28G= (n.452-28G=) n.763-28G= c.503-28G= (n.503-28G=) c.137-28G= (n.137-28G=) n.823-28G= n.602-28G= | |
21 | g.43065723C>G | CA749580087 | CBS | c.452-28G>C (n.452-28G>C) n.763-28G>C c.503-28G>C (n.503-28G>C) c.137-28G>C (n.137-28G>C) n.823-28G>C n.602-28G>C | dbSNP gnomAD v4 |
21 | g.43065723C>T | CA749580086 | CBS | c.452-28G>A (n.452-28G>A) n.763-28G>A c.503-28G>A (n.503-28G>A) c.137-28G>A (n.137-28G>A) n.823-28G>A n.602-28G>A | dbSNP |
21 | g.43065725del | CA920313693 | CBS | c.452-28del (n.452-28del) n.763-28del c.503-28del (n.503-28del) c.137-28del (n.137-28del) n.823-28del n.602-28del | dbSNP gnomAD v4 |
21 | g.43065727G>A | CA749580088 | CBS | c.452-32C>T (n.452-32C>T) n.763-32C>T c.503-32C>T (n.503-32C>T) c.137-32C>T (n.137-32C>T) n.823-32C>T n.602-32C>T | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43065727G= | CA2391103909 | CBS | c.452-32C= (n.452-32C=) n.763-32C= c.503-32C= (n.503-32C=) c.137-32C= (n.137-32C=) n.823-32C= n.602-32C= | |
21 | g.43065730A= | CA2391103911 | CBS | c.452-35T= (n.452-35T=) n.763-35T= c.503-35T= (n.503-35T=) c.137-35T= (n.137-35T=) n.823-35T= n.602-35T= | |
21 | g.43065730A>C | CA321096775 | CBS | c.452-35T>G (n.452-35T>G) n.763-35T>G c.503-35T>G (n.503-35T>G) c.137-35T>G (n.137-35T>G) n.823-35T>G n.602-35T>G | dbSNP gnomAD v4 |
21 | g.43065730_43065731delinsAC | CA2391103910 | CBS | c.452-36_452-35delinsGT (n.452-36_452-35delinsGT) n.763-36_763-35delinsGT c.503-36_503-35delinsGT (n.503-36_503-35delinsGT) c.137-36_137-35delinsGT (n.137-36_137-35delinsGT) n.823-36_823-35delinsGT n.602-36_602-35delinsGT | |
21 | g.43065731C>A | CA749580091 | CBS | c.452-36G>T (n.452-36G>T) n.763-36G>T c.503-36G>T (n.503-36G>T) c.137-36G>T (n.137-36G>T) n.823-36G>T n.602-36G>T | dbSNP gnomAD v4 |
21 | g.43065731C= | CA2391103912 | CBS | c.452-36G= (n.452-36G=) n.763-36G= c.503-36G= (n.503-36G=) c.137-36G= (n.137-36G=) n.823-36G= n.602-36G= | |
21 | g.43065736dup | CA321096777 | CBS | c.452-36dup (n.452-36dup) n.763-36dup c.503-36dup (n.503-36dup) c.137-36dup (n.137-36dup) n.823-36dup n.602-36dup | dbSNP gnomAD v4 |
21 | g.43065736del | CA749580092 | CBS | c.452-36del (n.452-36del) n.763-36del c.503-36del (n.503-36del) c.137-36del (n.137-36del) n.823-36del n.602-36del | dbSNP gnomAD v4 |
21 | g.43065732C>A | CA321096779 | CBS | c.452-37G>T (n.452-37G>T) n.763-37G>T c.503-37G>T (n.503-37G>T) c.137-37G>T (n.137-37G>T) n.823-37G>T n.602-37G>T | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43065732C= | CA2391103913 | CBS | c.452-37G= (n.452-37G=) n.763-37G= c.503-37G= (n.503-37G=) c.137-37G= (n.137-37G=) n.823-37G= n.602-37G= | |
21 | g.43065732C>T | CA2654728363 | CBS | c.452-37G>A (n.452-37G>A) n.763-37G>A c.503-37G>A (n.503-37G>A) c.137-37G>A (n.137-37G>A) n.823-37G>A n.602-37G>A | gnomAD v4 |
21 | g.43065733C>T | CA2654728364 | CBS | c.452-38G>A (n.452-38G>A) n.763-38G>A c.503-38G>A (n.503-38G>A) c.137-38G>A (n.137-38G>A) n.823-38G>A n.602-38G>A | gnomAD v4 |
21 | g.43065734C>A | CA2654728365 | CBS | c.452-39G>T (n.452-39G>T) n.763-39G>T c.503-39G>T (n.503-39G>T) c.137-39G>T (n.137-39G>T) n.823-39G>T n.602-39G>T | gnomAD v4 |
21 | g.43065736C>A | CA321096780 | CBS | c.452-41G>T (n.452-41G>T) n.763-41G>T c.503-41G>T (n.503-41G>T) c.137-41G>T (n.137-41G>T) n.823-41G>T n.602-41G>T | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43065736C= | CA2391103914 | CBS | c.452-41G= (n.452-41G=) n.763-41G= c.503-41G= (n.503-41G=) c.137-41G= (n.137-41G=) n.823-41G= n.602-41G= | |
21 | g.43065736C>T | CA2654728366 | CBS | c.452-41G>A (n.452-41G>A) n.763-41G>A c.503-41G>A (n.503-41G>A) c.137-41G>A (n.137-41G>A) n.823-41G>A n.602-41G>A | gnomAD v4 |
21 | g.43065737A>C | CA2654728367 | CBS | c.452-42T>G (n.452-42T>G) n.763-42T>G c.503-42T>G (n.503-42T>G) c.137-42T>G (n.137-42T>G) n.823-42T>G n.602-42T>G | gnomAD v4 |
21 | g.43065738A>C | CA2818001021 | CBS | c.452-43T>G (n.452-43T>G) n.763-43T>G c.503-43T>G (n.503-43T>G) c.137-43T>G (n.137-43T>G) n.823-43T>G n.602-43T>G | |
21 | g.43065739G>A | CA749580093 | CBS | c.452-44C>T (n.452-44C>T) n.763-44C>T c.503-44C>T (n.503-44C>T) c.137-44C>T (n.137-44C>T) n.823-44C>T n.602-44C>T | dbSNP |
21 | g.43065739G= | CA2391103915 | CBS | c.452-44C= (n.452-44C=) n.763-44C= c.503-44C= (n.503-44C=) c.137-44C= (n.137-44C=) n.823-44C= n.602-44C= | |
21 | g.43065740C= | CA2391103916 | CBS | c.452-45G= (n.452-45G=) n.763-45G= c.503-45G= (n.503-45G=) c.137-45G= (n.137-45G=) n.823-45G= n.602-45G= | |
21 | g.43065740C>G | CA321096781 | CBS | c.452-45G>C (n.452-45G>C) n.763-45G>C c.503-45G>C (n.503-45G>C) c.137-45G>C (n.137-45G>C) n.823-45G>C n.602-45G>C | |
21 | g.43065741C= | CA2391103917 | CBS | c.452-46G= (n.452-46G=) n.763-46G= c.503-46G= (n.503-46G=) c.137-46G= (n.137-46G=) n.823-46G= n.602-46G= | |
21 | g.43065741C>T | CA749580094 | CBS | c.452-46G>A (n.452-46G>A) n.763-46G>A c.503-46G>A (n.503-46G>A) c.137-46G>A (n.137-46G>A) n.823-46G>A n.602-46G>A | dbSNP |
21 | g.43065743T>G | CA2818001022 | CBS | c.452-48A>C (n.452-48A>C) n.763-48A>C c.503-48A>C (n.503-48A>C) c.137-48A>C (n.137-48A>C) n.823-48A>C n.602-48A>C | |
21 | g.43065744G= | CA2391103918 | CBS | c.452-49C= (n.452-49C=) n.763-49C= c.503-49C= (n.503-49C=) c.137-49C= (n.137-49C=) n.823-49C= n.602-49C= | |
21 | g.43065744G>T | CA749580095 | CBS | c.452-49C>A (n.452-49C>A) n.763-49C>A c.503-49C>A (n.503-49C>A) c.137-49C>A (n.137-49C>A) n.823-49C>A n.602-49C>A | dbSNP |
21 | g.43065745C= | CA2391103919 | CBS | c.452-50G= (n.452-50G=) n.763-50G= c.503-50G= (n.503-50G=) c.137-50G= (n.137-50G=) n.823-50G= n.602-50G= | |
21 | g.43065745C>T | CA749580096 | CBS | c.452-50G>A (n.452-50G>A) n.763-50G>A c.503-50G>A (n.503-50G>A) c.137-50G>A (n.137-50G>A) n.823-50G>A n.602-50G>A | dbSNP gnomAD v4 |
21 | g.43065746C>T | CA657667287 | CBS | c.452-51G>A (n.452-51G>A) n.763-51G>A c.503-51G>A (n.503-51G>A) c.137-51G>A (n.137-51G>A) n.823-51G>A n.602-51G>A | COSMIC |
21 | g.43065747C= | CA2391103920 | CBS | c.452-52G= (n.452-52G=) n.763-52G= c.503-52G= (n.503-52G=) c.137-52G= (n.137-52G=) n.823-52G= n.602-52G= | |
21 | g.43065747C>T | CA749580097 | CBS | c.452-52G>A (n.452-52G>A) n.763-52G>A c.503-52G>A (n.503-52G>A) c.137-52G>A (n.137-52G>A) n.823-52G>A n.602-52G>A | dbSNP |
21 | g.43065748C= | CA2391103921 | CBS | c.452-53G= (n.452-53G=) n.763-53G= c.503-53G= (n.503-53G=) c.137-53G= (n.137-53G=) n.823-53G= n.602-53G= | |
21 | g.43065748C>T | CA657667312 | CBS | c.452-53G>A (n.452-53G>A) n.763-53G>A c.503-53G>A (n.503-53G>A) c.137-53G>A (n.137-53G>A) n.823-53G>A n.602-53G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
21 | g.43065749G>A | CA2654728368 | CBS | c.452-54C>T (n.452-54C>T) n.763-54C>T c.503-54C>T (n.503-54C>T) c.137-54C>T (n.137-54C>T) n.823-54C>T n.602-54C>T | gnomAD v4 |
21 | g.43065752C>A | CA2391103923 | CBS | c.452-57G>T (n.452-57G>T) n.763-57G>T c.503-57G>T (n.503-57G>T) c.137-57G>T (n.137-57G>T) n.823-57G>T n.602-57G>T | dbSNP gnomAD v4 |
21 | g.43065752C= | CA2391103922 | CBS | c.452-57G= (n.452-57G=) n.763-57G= c.503-57G= (n.503-57G=) c.137-57G= (n.137-57G=) n.823-57G= n.602-57G= | |
21 | g.43065752C>T | CA2654728369 | CBS | c.452-57G>A (n.452-57G>A) n.763-57G>A c.503-57G>A (n.503-57G>A) c.137-57G>A (n.137-57G>A) n.823-57G>A n.602-57G>A | gnomAD v4 |
21 | g.43065753C>T | CA2654728370 | CBS | c.452-58G>A (n.452-58G>A) n.763-58G>A c.503-58G>A (n.503-58G>A) c.137-58G>A (n.137-58G>A) n.823-58G>A n.602-58G>A | gnomAD v4 |
21 | g.43065755G>A | CA2654728371 | CBS | c.452-60C>T (n.452-60C>T) n.763-60C>T c.503-60C>T (n.503-60C>T) c.137-60C>T (n.137-60C>T) n.823-60C>T n.602-60C>T | gnomAD v4 |