Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.78329843G>C | CA2542983245 | PSAT1 | c.*757G>C (n.*757G>C) | gnomAD v4 |
9 | g.78329846G>T | CA2690398494 | PSAT1 | c.*760G>T (n.*760G>T) | gnomAD v4 |
9 | g.78329851T>G | CA1857677060 | PSAT1 | c.*765T>G (n.*765T>G) | dbSNP |
9 | g.78329851T= | CA1857677059 | PSAT1 | c.*765T= (n.*765T=) | |
9 | g.78329852G>T | CA2690398495 | PSAT1 | c.*766G>T (n.*766G>T) | gnomAD v4 |
9 | g.78329856C= | CA1857677061 | PSAT1 | c.*770C= (n.*770C=) | |
9 | g.78329856C>T | CA867157006 | PSAT1 | c.*770C>T (n.*770C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329862del | CA2690398496 | PSAT1 | c.*776del (n.*776del) | gnomAD v4 |
9 | g.78329862T>C | CA2690398497 | PSAT1 | c.*776T>C (n.*776T>C) | gnomAD v4 |
9 | g.78329865C= | CA1857677062 | PSAT1 | c.*779C= (n.*779C=) | |
9 | g.78329865C>T | CA1857677063 | PSAT1 | c.*779C>T (n.*779C>T) | dbSNP |
9 | g.78329866A= | CA1857677064 | PSAT1 | c.*780A= (n.*780A=) | |
9 | g.78329866A>G | CA867157009 | PSAT1 | c.*780A>G (n.*780A>G) | dbSNP |
9 | g.78329867T>C | CA2690398498 | PSAT1 | c.*781T>C (n.*781T>C) | gnomAD v4 |
9 | g.78329868dup | CA653038973 | PSAT1 | c.*782dup (n.*782dup) | COSMIC |
9 | g.78329869C>A | CA588653585 | PSAT1 | c.*783C>A (n.*783C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78329869C= | CA1857677065 | PSAT1 | c.*783C= (n.*783C=) | |
9 | g.78329869C>G | CA194419386 | PSAT1 | c.*783C>G (n.*783C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78329872T>A | CA194419392 | PSAT1 | c.*786T>A (n.*786T>A) | dbSNP |
9 | g.78329872T>C | CA1125785060 | PSAT1 | c.*786T>C (n.*786T>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329872T= | CA1857677066 | PSAT1 | c.*786T= (n.*786T=) | |
9 | g.78329874C>A | CA2690398499 | PSAT1 | c.*788C>A (n.*788C>A) | gnomAD v4 |
9 | g.78329875A= | CA1857677067 | PSAT1 | c.*789A= (n.*789A=) | |
9 | g.78329875A>G | CA10634436 | PSAT1 | c.*789A>G (n.*789A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329878G>T | CA2690398500 | PSAT1 | c.*792G>T (n.*792G>T) | gnomAD v4 |
9 | g.78329879G>T | CA2690398501 | PSAT1 | c.*793G>T (n.*793G>T) | gnomAD v4 |
9 | g.78329880T>C | CA1857677069 | PSAT1 | c.*794T>C (n.*794T>C) | dbSNP |
9 | g.78329880T= | CA1857677068 | PSAT1 | c.*794T= (n.*794T=) | |
9 | g.78329881A= | CA1857677070 | PSAT1 | c.*795A= (n.*795A=) | |
9 | g.78329881A>C | CA1857677071 | PSAT1 | c.*795A>C (n.*795A>C) | dbSNP |
9 | g.78329883A= | CA1857677072 | PSAT1 | c.*797A= (n.*797A=) | |
9 | g.78329883A>G | CA588653586 | PSAT1 | c.*797A>G (n.*797A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78329885_78329886delinsGA | CA1857677073 | PSAT1 | c.*799_*800delinsGA (n.*799_*800delinsGA) | |
9 | g.78329886del | CA1857677074 | PSAT1 | c.*800del (n.*800del) | dbSNP |
9 | g.78329888A= | CA1857677075 | PSAT1 | c.*802A= (n.*802A=) | |
9 | g.78329888A>T | CA194419398 | PSAT1 | c.*802A>T (n.*802A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78329890A= | CA1857677076 | PSAT1 | c.*804A= (n.*804A=) | |
9 | g.78329890A>G | CA867157026 | PSAT1 | c.*804A>G (n.*804A>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329894G>A | CA2784747784 | PSAT1 | c.*808G>A (n.*808G>A) | |
9 | g.78329896T>C | CA1857677078 | PSAT1 | c.*810T>C (n.*810T>C) | dbSNP |
9 | g.78329896T= | CA1857677077 | PSAT1 | c.*810T= (n.*810T=) | |
9 | g.78329897T>C | CA867157040 | PSAT1 | c.*811T>C (n.*811T>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329897T= | CA1857677079 | PSAT1 | c.*811T= (n.*811T=) | |
9 | g.78329900T>G | CA2784747785 | PSAT1 | c.*814T>G (n.*814T>G) | |
9 | g.78329903del | CA2690398502 | PSAT1 | c.*817del (n.*817del) | gnomAD v4 |
9 | g.78329903G>A | CA1857677081 | PSAT1 | c.*817G>A (n.*817G>A) | dbSNP gnomAD v4 |
9 | g.78329903G= | CA1857677080 | PSAT1 | c.*817G= (n.*817G=) | |
9 | g.78329909T>C | CA1857677083 | PSAT1 | c.*823T>C (n.*823T>C) | dbSNP |
9 | g.78329909T= | CA1857677082 | PSAT1 | c.*823T= (n.*823T=) | |
9 | g.78329910T>C | CA1857677084 | PSAT1 | c.*824T>C (n.*824T>C) | dbSNP |
9 | g.78329910T= | CA1857677085 | PSAT1 | c.*824T= (n.*824T=) | |
9 | g.78329911T>G | CA194419413 | PSAT1 | c.*825T>G (n.*825T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78329911T= | CA1857677086 | PSAT1 | c.*825T= (n.*825T=) | |
9 | g.78329914A= | CA1857677087 | PSAT1 | c.*828A= (n.*828A=) | |
9 | g.78329914A>G | CA194419423 | PSAT1 | c.*828A>G (n.*828A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78329914_78329915insG | CA653038974 | PSAT1 | c.*828_*829insG (n.*828_*829insG) | COSMIC |
9 | g.78329917A>G | CA2784747786 | PSAT1 | c.*831A>G (n.*831A>G) | |
9 | g.78329919G>T | CA2690398503 | PSAT1 | c.*833G>T (n.*833G>T) | gnomAD v4 |
9 | g.78329920C>A | CA2690398504 | PSAT1 | c.*834C>A (n.*834C>A) | gnomAD v4 |
9 | g.78329920C= | CA1857677088 | PSAT1 | c.*834C= (n.*834C=) | |
9 | g.78329920C>T | CA194419447 | PSAT1 | c.*834C>T (n.*834C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329921C>T | CA2690398505 | PSAT1 | c.*835C>T (n.*835C>T) | gnomAD v4 |
9 | g.78329922A= | CA1857677089 | PSAT1 | c.*836A= (n.*836A=) | |
9 | g.78329922A>G | CA10634066 | PSAT1 | c.*836A>G (n.*836A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78329923_78329928delinsTTAAAC | CA1857677090 | PSAT1 | c.*837_*842delinsTTAAAC (n.*837_*842delinsTTAAAC) | |
9 | g.78329929_78329933del | CA1125785078 | PSAT1 | c.*843_*847del (n.*843_*847del) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329925A>G | CA2719899104 | PSAT1 | c.*839A>G (n.*839A>G) | dbSNP |
9 | g.78329927del | CA2690398506 | PSAT1 | c.*841del (n.*841del) | gnomAD v4 |
9 | g.78329939T>C | CA867157055 | PSAT1 | c.*853T>C (n.*853T>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329939T= | CA1857677091 | PSAT1 | c.*853T= (n.*853T=) | |
9 | g.78329942T>C | CA2690398507 | PSAT1 | c.*856T>C (n.*856T>C) | gnomAD v4 |