Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.12663794T>A | CA404252953 | MAN2B1 | c.672A>T (p.Gln224His) n.654A>T c.375A>T (p.Gln125His) c.-347A>T (n.-347A>T) | |
19 | g.12663794T>C | CA505625727 | MAN2B1 | c.672A>G (p.Gln224=) n.654A>G c.375A>G (p.Gln125=) c.-347A>G (n.-347A>G) | gnomAD v4 |
19 | g.12663794T>G | CA404252955 | MAN2B1 | c.672A>C (p.Gln224His) n.654A>C c.375A>C (p.Gln125His) c.-347A>C (n.-347A>C) | |
19 | g.12663795T>A | CA404252957 | MAN2B1 | c.671A>T (p.Gln224Leu) n.653A>T c.374A>T (p.Gln125Leu) c.-348A>T (n.-348A>T) | |
19 | g.12663795T>C | CA9226735 | MAN2B1 | c.671A>G (p.Gln224Arg) n.653A>G c.374A>G (p.Gln125Arg) c.-348A>G (n.-348A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663795T>G | CA404252960 | MAN2B1 | c.671A>C (p.Gln224Pro) n.653A>C c.374A>C (p.Gln125Pro) c.-348A>C (n.-348A>C) | |
19 | g.12663795T= | CA2323506908 | MAN2B1 | c.671A= (p.Gln224=) n.653A= c.374A= (p.Gln125=) c.-348A= (n.-348A=) | |
19 | g.12663795_12663796del | CA2580096638 | MAN2B1 | c.670_671del (p.Gln224ArgfsTer2) n.652_653del c.373_374del (p.Gln125ArgfsTer2) c.-349_-348del (n.-349_-348del) | ClinVar |
19 | g.12663796G>A | CA404252962 | MAN2B1 | c.670C>T (p.Gln224Ter) n.652C>T c.373C>T (p.Gln125Ter) c.-349C>T (n.-349C>T) | |
19 | g.12663796G>C | CA404252973 | MAN2B1 | c.670C>G (p.Gln224Glu) n.652C>G c.373C>G (p.Gln125Glu) c.-349C>G (n.-349C>G) | |
19 | g.12663796G>T | CA404252964 | MAN2B1 | c.670C>A (p.Gln224Lys) n.652C>A c.373C>A (p.Gln125Lys) c.-349C>A (n.-349C>A) | |
19 | g.12663797A>C | CA404252974 | MAN2B1 | c.669T>G (p.Tyr223Ter) n.651T>G c.372T>G (p.Tyr124Ter) c.-350T>G (n.-350T>G) | |
19 | g.12663797A>G | CA505625728 | MAN2B1 | c.669T>C (p.Tyr223=) n.651T>C c.372T>C (p.Tyr124=) c.-350T>C (n.-350T>C) | gnomAD v4 |
19 | g.12663797A>T | CA404252976 | MAN2B1 | c.669T>A (p.Tyr223Ter) n.651T>A c.372T>A (p.Tyr124Ter) c.-350T>A (n.-350T>A) | |
19 | g.12663798T>A | CA404252978 | MAN2B1 | c.668A>T (p.Tyr223Phe) n.650A>T c.371A>T (p.Tyr124Phe) c.-351A>T (n.-351A>T) | |
19 | g.12663798T>C | CA404252980 | MAN2B1 | c.668A>G (p.Tyr223Cys) n.650A>G c.371A>G (p.Tyr124Cys) c.-351A>G (n.-351A>G) | |
19 | g.12663798T>G | CA404252984 | MAN2B1 | c.668A>C (p.Tyr223Ser) n.650A>C c.371A>C (p.Tyr124Ser) c.-351A>C (n.-351A>C) | |
19 | g.12663799A>C | CA404252987 | MAN2B1 | c.667T>G (p.Tyr223Asp) n.649T>G c.370T>G (p.Tyr124Asp) c.-352T>G (n.-352T>G) | |
19 | g.12663799A>G | CA404252989 | MAN2B1 | c.667T>C (p.Tyr223His) n.649T>C c.370T>C (p.Tyr124His) c.-352T>C (n.-352T>C) | gnomAD v4 |
19 | g.12663799A>T | CA404252990 | MAN2B1 | c.667T>A (p.Tyr223Asn) n.649T>A c.370T>A (p.Tyr124Asn) c.-352T>A (n.-352T>A) | |
19 | g.12663801_12663804del | CA2695198140 | MAN2B1 | c.664_667del (p.Asp222IlefsTer23) n.646_649del c.367_370del (p.Asp123IlefsTer23) c.-355_-352del (n.-355_-352del) | ClinVar |
19 | g.12663800A= | CA2323506909 | MAN2B1 | c.666T= (p.Asp222=) n.648T= c.369T= (p.Asp123=) c.-353T= (n.-353T=) | |
19 | g.12663800A>C | CA404252991 | MAN2B1 | c.666T>G (p.Asp222Glu) n.648T>G c.369T>G (p.Asp123Glu) c.-353T>G (n.-353T>G) | |
19 | g.12663800A>G | CA9226736 | MAN2B1 | c.666T>C (p.Asp222=) n.648T>C c.369T>C (p.Asp123=) c.-353T>C (n.-353T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12663800A>T | CA404252992 | MAN2B1 | c.666T>A (p.Asp222Glu) n.648T>A c.369T>A (p.Asp123Glu) c.-353T>A (n.-353T>A) | |
19 | g.12663801T>A | CA404252994 | MAN2B1 | c.665A>T (p.Asp222Val) n.647A>T c.368A>T (p.Asp123Val) c.-354A>T (n.-354A>T) | |
19 | g.12663801T>C | CA9226737 | MAN2B1 | c.665A>G (p.Asp222Gly) n.647A>G c.368A>G (p.Asp123Gly) c.-354A>G (n.-354A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663801T>G | CA404252993 | MAN2B1 | c.665A>C (p.Asp222Ala) n.647A>C c.368A>C (p.Asp123Ala) c.-354A>C (n.-354A>C) | |
19 | g.12663801T= | CA2323506910 | MAN2B1 | c.665A= (p.Asp222=) n.647A= c.368A= (p.Asp123=) c.-354A= (n.-354A=) | |
19 | g.12663802C>A | CA404252997 | MAN2B1 | c.664G>T (p.Asp222Tyr) n.646G>T c.367G>T (p.Asp123Tyr) c.-355G>T (n.-355G>T) | |
19 | g.12663802C>G | CA404252995 | MAN2B1 | c.664G>C (p.Asp222His) n.646G>C c.367G>C (p.Asp123His) c.-355G>C (n.-355G>C) | |
19 | g.12663802C>T | CA404252996 | MAN2B1 | c.664G>A (p.Asp222Asn) n.646G>A c.367G>A (p.Asp123Asn) c.-355G>A (n.-355G>A) | gnomAD v4 |
19 | g.12663803A>C | CA505625729 | MAN2B1 | c.663T>G (p.Leu221=) n.645T>G c.366T>G (p.Leu122=) c.-356T>G (n.-356T>G) | |
19 | g.12663803A>G | CA505625730 | MAN2B1 | c.663T>C (p.Leu221=) n.645T>C c.366T>C (p.Leu122=) c.-356T>C (n.-356T>C) | |
19 | g.12663803A>T | CA505625731 | MAN2B1 | c.663T>A (p.Leu221=) n.645T>A c.366T>A (p.Leu122=) c.-356T>A (n.-356T>A) | |
19 | g.12663804A>C | CA404252998 | MAN2B1 | c.662T>G (p.Leu221Arg) n.644T>G c.365T>G (p.Leu122Arg) c.-357T>G (n.-357T>G) | |
19 | g.12663804A>G | CA404252999 | MAN2B1 | c.662T>C (p.Leu221Pro) n.644T>C c.365T>C (p.Leu122Pro) c.-357T>C (n.-357T>C) | |
19 | g.12663804A>T | CA404253000 | MAN2B1 | c.662T>A (p.Leu221His) n.644T>A c.365T>A (p.Leu122His) c.-357T>A (n.-357T>A) | |
19 | g.12663805G>A | CA404253005 | MAN2B1 | c.661C>T (p.Leu221Phe) n.643C>T c.364C>T (p.Leu122Phe) c.-358C>T (n.-358C>T) | gnomAD v4 |
19 | g.12663805G>C | CA404253003 | MAN2B1 | c.661C>G (p.Leu221Val) n.643C>G c.364C>G (p.Leu122Val) c.-358C>G (n.-358C>G) | |
19 | g.12663805G>T | CA404253002 | MAN2B1 | c.661C>A (p.Leu221Ile) n.643C>A c.364C>A (p.Leu122Ile) c.-358C>A (n.-358C>A) | |
19 | g.12663806G>A | CA505625732 | MAN2B1 | c.660C>T (p.Arg220=) n.642C>T c.363C>T (p.Arg121=) c.-359C>T (n.-359C>T) | ClinVar dbSNP gnomAD v4 |
19 | g.12663806G>C | CA505625733 | MAN2B1 | c.660C>G (p.Arg220=) n.642C>G c.363C>G (p.Arg121=) c.-359C>G (n.-359C>G) | |
19 | g.12663806G>T | CA505625734 | MAN2B1 | c.660C>A (p.Arg220=) n.642C>A c.363C>A (p.Arg121=) c.-359C>A (n.-359C>A) | dbSNP gnomAD v4 |
19 | g.12663807C>A | CA404253006 | MAN2B1 | c.659G>T (p.Arg220Leu) n.641G>T c.362G>T (p.Arg121Leu) c.-360G>T (n.-360G>T) | |
19 | g.12663807C= | CA2323506911 | MAN2B1 | c.659G= (p.Arg220=) n.641G= c.362G= (p.Arg121=) c.-360G= (n.-360G=) | |
19 | g.12663807C>G | CA404253008 | MAN2B1 | c.659G>C (p.Arg220Pro) n.641G>C c.362G>C (p.Arg121Pro) c.-360G>C (n.-360G>C) | |
19 | g.12663807C>T | CA404253010 | MAN2B1 | c.659G>A (p.Arg220His) n.641G>A c.362G>A (p.Arg121His) c.-360G>A (n.-360G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.12663808G>A | CA9226738 | MAN2B1 | c.658C>T (p.Arg220Cys) n.640C>T c.361C>T (p.Arg121Cys) c.-361C>T (n.-361C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.12663808G>C | CA404253012 | MAN2B1 | c.658C>G (p.Arg220Gly) n.640C>G c.361C>G (p.Arg121Gly) c.-361C>G (n.-361C>G) |