Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
9 | g.78329944A= | CA1857677092 | PSAT1 | c.*858A= (n.*858A=) | |
9 | g.78329944A>G | CA194419453 | PSAT1 | c.*858A>G (n.*858A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78329948A= | CA1857677093 | PSAT1 | c.*862A= (n.*862A=) | |
9 | g.78329948A>G | CA1857677094 | PSAT1 | c.*862A>G (n.*862A>G) | dbSNP |
9 | g.78329949C>A | CA2690398508 | PSAT1 | c.*863C>A (n.*863C>A) | gnomAD v4 |
9 | g.78329951C>A | CA2690398509 | PSAT1 | c.*865C>A (n.*865C>A) | gnomAD v4 |
9 | g.78329951C= | CA1857677095 | PSAT1 | c.*865C= (n.*865C=) | |
9 | g.78329951C>G | CA10634447 | PSAT1 | c.*865C>G (n.*865C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78329953A= | CA1857677096 | PSAT1 | c.*867A= (n.*867A=) | |
9 | g.78329953A>G | CA194419456 | PSAT1 | c.*867A>G (n.*867A>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329953dup | CA2719899118 | PSAT1 | c.*867dup (n.*867dup) | dbSNP |
9 | g.78329957T>C | CA194419458 | PSAT1 | c.*871T>C (n.*871T>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329957T= | CA1857677097 | PSAT1 | c.*871T= (n.*871T=) | |
9 | g.78329960G>T | CA2690398510 | PSAT1 | c.*874G>T (n.*874G>T) | gnomAD v4 |
9 | g.78329963C= | CA1857677098 | PSAT1 | c.*877C= (n.*877C=) | |
9 | g.78329963C>T | CA1125785091 | PSAT1 | c.*877C>T (n.*877C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329967A= | CA1857677099 | PSAT1 | c.*881A= (n.*881A=) | |
9 | g.78329967A>G | CA867157066 | PSAT1 | c.*881A>G (n.*881A>G) | dbSNP |
9 | g.78329969T>C | CA194419475 | PSAT1 | c.*883T>C (n.*883T>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329969T= | CA1857677100 | PSAT1 | c.*883T= (n.*883T=) | |
9 | g.78329970G>A | CA1857677102 | PSAT1 | c.*884G>A (n.*884G>A) | dbSNP |
9 | g.78329970G= | CA1857677101 | PSAT1 | c.*884G= (n.*884G=) | |
9 | g.78329979G>A | CA194419480 | PSAT1 | c.*893G>A (n.*893G>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329979G= | CA1857677103 | PSAT1 | c.*893G= (n.*893G=) | |
9 | g.78329979G>T | CA653038975 | PSAT1 | c.*893G>T (n.*893G>T) | gnomAD v4 COSMIC |
9 | g.78329981A>C | CA2719899136 | PSAT1 | c.*895A>C (n.*895A>C) | dbSNP |
9 | g.78329981A>G | CA2690398511 | PSAT1 | c.*895A>G (n.*895A>G) | gnomAD v4 |
9 | g.78329982A= | CA1857677104 | PSAT1 | c.*896A= (n.*896A=) | |
9 | g.78329982A>G | CA1857677105 | PSAT1 | c.*896A>G (n.*896A>G) | dbSNP |
9 | g.78329986A= | CA1857677106 | PSAT1 | c.*900A= (n.*900A=) | |
9 | g.78329986A>T | CA588653594 | PSAT1 | c.*900A>T (n.*900A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78329987T>C | CA1857677108 | PSAT1 | c.*901T>C (n.*901T>C) | dbSNP |
9 | g.78329987T= | CA1857677107 | PSAT1 | c.*901T= (n.*901T=) | |
9 | g.78329989A>G | CA2690398512 | PSAT1 | c.*903A>G (n.*903A>G) | gnomAD v4 |
9 | g.78329989A>T | CA2784747787 | PSAT1 | c.*903A>T (n.*903A>T) | |
9 | g.78329991_78329993del | CA2784747788 | PSAT1 | c.*905_*907del (n.*905_*907del) | |
9 | g.78329993C>A | CA2690398513 | PSAT1 | c.*907C>A (n.*907C>A) | gnomAD v4 |
9 | g.78329993C= | CA1857677109 | PSAT1 | c.*907C= (n.*907C=) | |
9 | g.78329993C>T | CA194419488 | PSAT1 | c.*907C>T (n.*907C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.78329994G>A | CA588653595 | PSAT1 | c.*908G>A (n.*908G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78329994G= | CA1857677110 | PSAT1 | c.*908G= (n.*908G=) | |
9 | g.78329994G>T | CA2719617951 | PSAT1 | c.*908G>T (n.*908G>T) | dbSNP |
9 | g.78329996G>T | CA2690398514 | PSAT1 | c.*910G>T (n.*910G>T) | gnomAD v4 |
9 | g.78329998G>C | CA1857677112 | PSAT1 | c.*912G>C (n.*912G>C) | dbSNP |
9 | g.78329998G= | CA1857677111 | PSAT1 | c.*912G= (n.*912G=) | |
9 | g.78329999T>C | CA194419493 | PSAT1 | c.*913T>C (n.*913T>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78329999T= | CA1857677113 | PSAT1 | c.*913T= (n.*913T=) | |
9 | g.78330000G>A | CA1857677115 | PSAT1 | c.*914G>A (n.*914G>A) | dbSNP |
9 | g.78330000G= | CA1857677114 | PSAT1 | c.*914G= (n.*914G=) | |
9 | g.78330001A>G | CA2690398515 | PSAT1 | c.*915A>G (n.*915A>G) | gnomAD v4 |
9 | g.78330002T>C | CA588653596 | PSAT1 | c.*916T>C (n.*916T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78330002T= | CA1857677116 | PSAT1 | c.*916T= (n.*916T=) | |
9 | g.78330003A= | CA1857677117 | PSAT1 | c.*917A= (n.*917A=) | |
9 | g.78330003A>G | CA1125785101 | PSAT1 | c.*917A>G (n.*917A>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78330003_78330004delinsAC | CA1857677118 | PSAT1 | c.*917_*918delinsAC (n.*917_*918delinsAC) | |
9 | g.78330004del | CA1857677119 | PSAT1 | c.*918del (n.*918del) | dbSNP |
9 | g.78330007del | CA2543530266 | PSAT1 | c.*921del (n.*921del) | |
9 | g.78330007T>A | CA867157088 | PSAT1 | c.*921T>A (n.*921T>A) | dbSNP |
9 | g.78330007T>C | CA588653597 | PSAT1 | c.*921T>C (n.*921T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78330007T= | CA1857677120 | PSAT1 | c.*921T= (n.*921T=) | |
9 | g.78330008G>A | CA1857677122 | PSAT1 | c.*922G>A (n.*922G>A) | dbSNP |
9 | g.78330008G= | CA1857677121 | PSAT1 | c.*922G= (n.*922G=) | |
9 | g.78330008G>T | CA2690398516 | PSAT1 | c.*922G>T (n.*922G>T) | gnomAD v4 |
9 | g.78330009C>A | CA2690398517 | PSAT1 | c.*923C>A (n.*923C>A) | gnomAD v4 |
9 | g.78330009C>T | CA2784747789 | PSAT1 | c.*923C>T (n.*923C>T) | |
9 | g.78330013A= | CA1857677123 | PSAT1 | c.*927A= (n.*927A=) | |
9 | g.78330013A>C | CA1857677124 | PSAT1 | c.*927A>C (n.*927A>C) | dbSNP |
9 | g.78330015A= | CA1857677125 | PSAT1 | c.*929A= (n.*929A=) | |
9 | g.78330015A>G | CA1125785105 | PSAT1 | c.*929A>G (n.*929A>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78330016G>A | CA588653599 | PSAT1 | c.*930G>A (n.*930G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78330016G>C | CA867157090 | PSAT1 | c.*930G>C (n.*930G>C) | dbSNP |
9 | g.78330016G= | CA1857677126 | PSAT1 | c.*930G= (n.*930G=) | |
9 | g.78330018C= | CA1857677127 | PSAT1 | c.*932C= (n.*932C=) | |
9 | g.78330018C>G | CA194419502 | PSAT1 | c.*932C>G (n.*932C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.78330021dup | CA1857677128 | PSAT1 | c.*935dup (n.*935dup) | dbSNP |
9 | g.78330022C= | CA1857677129 | PSAT1 | c.*936C= (n.*936C=) | |
9 | g.78330022C>T | CA1125785107 | PSAT1 | c.*936C>T (n.*936C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.78330024C>A | CA2690398518 | PSAT1 | c.*938C>A (n.*938C>A) | gnomAD v4 |
9 | g.78330025C= | CA1857677130 | PSAT1 | c.*939C= (n.*939C=) | |
9 | g.78330025C>T | CA588653602 | PSAT1 | c.*939C>T (n.*939C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |