Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.78329751C= | CA1857677030 | PSAT1 | c.*665C= (n.*665C=) | |
9 | g.78329751C>T | CA867156938 | PSAT1 | c.*665C>T (n.*665C>T) | dbSNP |
9 | g.78329752C= | CA1857677031 | PSAT1 | c.*666C= (n.*666C=) | |
9 | g.78329752C>T | CA1125785020 | PSAT1 | c.*666C>T (n.*666C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329756T>C | CA2690398467 | PSAT1 | c.*670T>C (n.*670T>C) | gnomAD v4 |
9 | g.78329756T>G | CA10627631 | PSAT1 | c.*670T>G (n.*670T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78329756T= | CA1857677032 | PSAT1 | c.*670T= (n.*670T=) | |
9 | g.78329757G>T | CA2784747781 | PSAT1 | c.*671G>T (n.*671G>T) | |
9 | g.78329758C>A | CA2690398468 | PSAT1 | c.*672C>A (n.*672C>A) | gnomAD v4 |
9 | g.78329759A= | CA1857677033 | PSAT1 | c.*673A= (n.*673A=) | |
9 | g.78329759A>G | CA1857677034 | PSAT1 | c.*673A>G (n.*673A>G) | dbSNP |
9 | g.78329763T>C | CA1857677036 | PSAT1 | c.*677T>C (n.*677T>C) | dbSNP gnomAD v4 |
9 | g.78329763T= | CA1857677035 | PSAT1 | c.*677T= (n.*677T=) | |
9 | g.78329765G>A | CA867156952 | PSAT1 | c.*679G>A (n.*679G>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329765G= | CA1857677037 | PSAT1 | c.*679G= (n.*679G=) | |
9 | g.78329766C>A | CA2690398469 | PSAT1 | c.*680C>A (n.*680C>A) | gnomAD v4 |
9 | g.78329771C>A | CA2690398470 | PSAT1 | c.*685C>A (n.*685C>A) | gnomAD v4 |
9 | g.78329771C= | CA1857677038 | PSAT1 | c.*685C= (n.*685C=) | |
9 | g.78329771C>T | CA867156957 | PSAT1 | c.*685C>T (n.*685C>T) | dbSNP |
9 | g.78329775A>G | CA2690398471 | PSAT1 | c.*689A>G (n.*689A>G) | gnomAD v4 |
9 | g.78329776G>A | CA2784747782 | PSAT1 | c.*690G>A (n.*690G>A) | |
9 | g.78329776G>T | CA2690398472 | PSAT1 | c.*690G>T (n.*690G>T) | gnomAD v4 |
9 | g.78329779A>G | CA2512432621 | PSAT1 | c.*693A>G (n.*693A>G) | |
9 | g.78329780G>A | CA915777738 | PSAT1 | c.*694G>A (n.*694G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78329780G= | CA1857677039 | PSAT1 | c.*694G= (n.*694G=) | |
9 | g.78329780G>T | CA2690398473 | PSAT1 | c.*694G>T (n.*694G>T) | gnomAD v4 |
9 | g.78329782G>A | CA1125785026 | PSAT1 | c.*696G>A (n.*696G>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329782G= | CA1857677040 | PSAT1 | c.*696G= (n.*696G=) | |
9 | g.78329785G>T | CA2690398474 | PSAT1 | c.*699G>T (n.*699G>T) | gnomAD v4 |
9 | g.78329786T>C | CA2690398475 | PSAT1 | c.*700T>C (n.*700T>C) | gnomAD v4 |
9 | g.78329787A= | CA1857677041 | PSAT1 | c.*701A= (n.*701A=) | |
9 | g.78329787A>C | CA1857677042 | PSAT1 | c.*701A>C (n.*701A>C) | dbSNP |
9 | g.78329787A>G | CA2690398476 | PSAT1 | c.*701A>G (n.*701A>G) | gnomAD v4 |
9 | g.78329788C>G | CA2690398477 | PSAT1 | c.*702C>G (n.*702C>G) | gnomAD v4 |
9 | g.78329792dup | CA2598491190 | PSAT1 | c.*706dup (n.*706dup) | gnomAD v3 gnomAD v4 |
9 | g.78329789C= | CA1857677043 | PSAT1 | c.*703C= (n.*703C=) | |
9 | g.78329789C>T | CA194419341 | PSAT1 | c.*703C>T (n.*703C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329790C>A | CA2690398478 | PSAT1 | c.*704C>A (n.*704C>A) | gnomAD v4 |
9 | g.78329791C>A | CA2690398479 | PSAT1 | c.*705C>A (n.*705C>A) | gnomAD v4 |
9 | g.78329791C= | CA1857677044 | PSAT1 | c.*705C= (n.*705C=) | |
9 | g.78329791C>G | CA588653581 | PSAT1 | c.*705C>G (n.*705C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78329791C>T | CA1125785030 | PSAT1 | c.*705C>T (n.*705C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329793T>C | CA2690398480 | PSAT1 | c.*707T>C (n.*707T>C) | gnomAD v4 |
9 | g.78329795C>A | CA2690398481 | PSAT1 | c.*709C>A (n.*709C>A) | gnomAD v4 |
9 | g.78329796C= | CA1857677045 | PSAT1 | c.*710C= (n.*710C=) | |
9 | g.78329796C>T | CA867156975 | PSAT1 | c.*710C>T (n.*710C>T) | dbSNP |
9 | g.78329797C>A | CA2690398482 | PSAT1 | c.*711C>A (n.*711C>A) | gnomAD v4 |
9 | g.78329798A= | CA1857677046 | PSAT1 | c.*712A= (n.*712A=) | |
9 | g.78329798A>C | CA1125785031 | PSAT1 | c.*712A>C (n.*712A>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329800T>G | CA2741027982 | PSAT1 | c.*714T>G (n.*714T>G) | |
9 | g.78329801C>A | CA2690398483 | PSAT1 | c.*715C>A (n.*715C>A) | gnomAD v4 |
9 | g.78329801C= | CA1857677047 | PSAT1 | c.*715C= (n.*715C=) | |
9 | g.78329801C>T | CA867156976 | PSAT1 | c.*715C>T (n.*715C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329804C>A | CA2690398484 | PSAT1 | c.*718C>A (n.*718C>A) | gnomAD v4 |
9 | g.78329804C= | CA1857677048 | PSAT1 | c.*718C= (n.*718C=) | |
9 | g.78329804C>T | CA588653583 | PSAT1 | c.*718C>T (n.*718C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78329805G>A | CA194419344 | PSAT1 | c.*719G>A (n.*719G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78329805G>C | CA194419366 | PSAT1 | c.*719G>C (n.*719G>C) | dbSNP |
9 | g.78329805G= | CA1857677049 | PSAT1 | c.*719G= (n.*719G=) | |
9 | g.78329805G>T | CA2690398485 | PSAT1 | c.*719G>T (n.*719G>T) | gnomAD v4 |
9 | g.78329806C= | CA1857677050 | PSAT1 | c.*720C= (n.*720C=) | |
9 | g.78329806C>T | CA1857677051 | PSAT1 | c.*720C>T (n.*720C>T) | dbSNP |
9 | g.78329807C>A | CA2690398486 | PSAT1 | c.*721C>A (n.*721C>A) | gnomAD v4 |
9 | g.78329807C= | CA1857677052 | PSAT1 | c.*721C= (n.*721C=) | |
9 | g.78329807C>T | CA867156989 | PSAT1 | c.*721C>T (n.*721C>T) | dbSNP |
9 | g.78329808T>C | CA194419382 | PSAT1 | c.*722T>C (n.*722T>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329808T= | CA1857677053 | PSAT1 | c.*722T= (n.*722T=) | |
9 | g.78329811C>A | CA2690398487 | PSAT1 | c.*725C>A (n.*725C>A) | gnomAD v4 |
9 | g.78329812T>C | CA2690398488 | PSAT1 | c.*726T>C (n.*726T>C) | gnomAD v4 |
9 | g.78329813C>T | CA2784747783 | PSAT1 | c.*727C>T (n.*727C>T) | |
9 | g.78329814T>C | CA2690398489 | PSAT1 | c.*728T>C (n.*728T>C) | gnomAD v4 |
9 | g.78329821G>T | CA2690398490 | PSAT1 | c.*735G>T (n.*735G>T) | gnomAD v4 |
9 | g.78329822C>A | CA2690398491 | PSAT1 | c.*736C>A (n.*736C>A) | gnomAD v4 |
9 | g.78329822_78329823delinsCT | CA1857677054 | PSAT1 | c.*736_*737delinsCT (n.*736_*737delinsCT) | |
9 | g.78329823del | CA1125785045 | PSAT1 | c.*737del (n.*737del) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329827T>G | CA1125785049 | PSAT1 | c.*741T>G (n.*741T>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329827T= | CA1857677055 | PSAT1 | c.*741T= (n.*741T=) | |
9 | g.78329830T>A | CA1857677057 | PSAT1 | c.*744T>A (n.*744T>A) | dbSNP |
9 | g.78329830T= | CA1857677056 | PSAT1 | c.*744T= (n.*744T=) | |
9 | g.78329832A>G | CA2516523087 | PSAT1 | c.*746A>G (n.*746A>G) | |
9 | g.78329837G= | CA1857677058 | PSAT1 | c.*751G= (n.*751G=) | |
9 | g.78329837G>T | CA588653584 | PSAT1 | c.*751G>T (n.*751G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78329839C>A | CA2690398492 | PSAT1 | c.*753C>A (n.*753C>A) | gnomAD v4 |
9 | g.78329841T>A | CA2690398493 | PSAT1 | c.*755T>A (n.*755T>A) | gnomAD v4 |
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=) |