Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.12663788C>A | CA404252929 | MAN2B1 | c.678G>T (p.Lys226Asn) n.660G>T c.381G>T (p.Lys127Asn) c.-341G>T (n.-341G>T) | |
19 | g.12663788C= | CA2323506906 | MAN2B1 | c.678G= (p.Lys226=) n.660G= c.381G= (p.Lys127=) c.-341G= (n.-341G=) | |
19 | g.12663788C>G | CA404252931 | MAN2B1 | c.678G>C (p.Lys226Asn) n.660G>C c.381G>C (p.Lys127Asn) c.-341G>C (n.-341G>C) | |
19 | g.12663788C>T | CA305477987 | MAN2B1 | c.678G>A (p.Lys226=) n.660G>A c.381G>A (p.Lys127=) c.-341G>A (n.-341G>A) | dbSNP gnomAD v4 |
19 | g.12663789T>A | CA404252932 | MAN2B1 | c.677A>T (p.Lys226Met) n.659A>T c.380A>T (p.Lys127Met) c.-342A>T (n.-342A>T) | |
19 | g.12663789T>C | CA404252933 | MAN2B1 | c.677A>G (p.Lys226Arg) n.659A>G c.380A>G (p.Lys127Arg) c.-342A>G (n.-342A>G) | |
19 | g.12663789T>G | CA404252936 | MAN2B1 | c.677A>C (p.Lys226Thr) n.659A>C c.380A>C (p.Lys127Thr) c.-342A>C (n.-342A>C) | |
19 | g.12663790T>A | CA404252939 | MAN2B1 | c.676A>T (p.Lys226Ter) n.658A>T c.379A>T (p.Lys127Ter) c.-343A>T (n.-343A>T) | |
19 | g.12663790T>C | CA404252940 | MAN2B1 | c.676A>G (p.Lys226Glu) n.658A>G c.379A>G (p.Lys127Glu) c.-343A>G (n.-343A>G) | |
19 | g.12663790T>G | CA404252938 | MAN2B1 | c.676A>C (p.Lys226Gln) n.658A>C c.379A>C (p.Lys127Gln) c.-343A>C (n.-343A>C) | |
19 | g.12663791A>C | CA404252941 | MAN2B1 | c.675T>G (p.Asp225Glu) n.657T>G c.378T>G (p.Asp126Glu) c.-344T>G (n.-344T>G) | |
19 | g.12663791A>G | CA505625726 | MAN2B1 | c.675T>C (p.Asp225=) n.657T>C c.378T>C (p.Asp126=) c.-344T>C (n.-344T>C) | |
19 | g.12663791A>T | CA404252942 | MAN2B1 | c.675T>A (p.Asp225Glu) n.657T>A c.378T>A (p.Asp126Glu) c.-344T>A (n.-344T>A) | |
19 | g.12663792T>A | CA404252943 | MAN2B1 | c.674A>T (p.Asp225Val) n.656A>T c.377A>T (p.Asp126Val) c.-345A>T (n.-345A>T) | |
19 | g.12663792T>C | CA404252944 | MAN2B1 | c.674A>G (p.Asp225Gly) n.656A>G c.377A>G (p.Asp126Gly) c.-345A>G (n.-345A>G) | gnomAD v4 |
19 | g.12663792T>G | CA404252946 | MAN2B1 | c.674A>C (p.Asp225Ala) n.656A>C c.377A>C (p.Asp126Ala) c.-345A>C (n.-345A>C) | |
19 | g.12663793C>A | CA404252951 | MAN2B1 | c.673G>T (p.Asp225Tyr) n.655G>T c.376G>T (p.Asp126Tyr) c.-346G>T (n.-346G>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12663793C= | CA2323506907 | MAN2B1 | c.673G= (p.Asp225=) n.655G= c.376G= (p.Asp126=) c.-346G= (n.-346G=) | |
19 | g.12663793C>G | CA404252948 | MAN2B1 | c.673G>C (p.Asp225His) n.655G>C c.376G>C (p.Asp126His) c.-346G>C (n.-346G>C) | ClinVar dbSNP |
19 | g.12663793C>T | CA404252950 | MAN2B1 | c.673G>A (p.Asp225Asn) n.655G>A c.376G>A (p.Asp126Asn) c.-346G>A (n.-346G>A) | |
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) |