| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.33021317T>A | CA116881 | NT5C3A | c.257A>T (p.Asp86Val) c.395A>T (p.Asp132Val) c.293A>T (p.Asp98Val) c.410A>T (p.Asp137Val) c.*300A>T (n.*300A>T) c.296A>T (p.Asp99Val) c.194A>T (p.Asp65Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021317T>C | CA367192697 | NT5C3A | c.257A>G (p.Asp86Gly) c.395A>G (p.Asp132Gly) c.293A>G (p.Asp98Gly) c.410A>G (p.Asp137Gly) c.*300A>G (n.*300A>G) c.296A>G (p.Asp99Gly) c.194A>G (p.Asp65Gly) | |
| 7 | g.33021317T>G | CA367192695 | NT5C3A | c.257A>C (p.Asp86Ala) c.395A>C (p.Asp132Ala) c.293A>C (p.Asp98Ala) c.410A>C (p.Asp137Ala) c.*300A>C (n.*300A>C) c.296A>C (p.Asp99Ala) c.194A>C (p.Asp65Ala) | |
| 7 | g.33021317T= | CA1698577261 | NT5C3A | c.257A= (p.Asp86=) c.395A= (p.Asp132=) c.293A= (p.Asp98=) c.410A= (p.Asp137=) c.*300A= (n.*300A=) c.296A= (p.Asp99=) c.194A= (p.Asp65=) | |
| 7 | g.33021318C>A | CA367192701 | NT5C3A | c.256G>T (p.Asp86Tyr) c.394G>T (p.Asp132Tyr) c.292G>T (p.Asp98Tyr) c.409G>T (p.Asp137Tyr) c.*299G>T (n.*299G>T) c.295G>T (p.Asp99Tyr) c.193G>T (p.Asp65Tyr) | gnomAD v4 |
| 7 | g.33021318C= | CA1698577262 | NT5C3A | c.256G= (p.Asp86=) c.394G= (p.Asp132=) c.292G= (p.Asp98=) c.409G= (p.Asp137=) c.*299G= (n.*299G=) c.295G= (p.Asp99=) c.193G= (p.Asp65=) | |
| 7 | g.33021318C>G | CA367192703 | NT5C3A | c.256G>C (p.Asp86His) c.394G>C (p.Asp132His) c.292G>C (p.Asp98His) c.409G>C (p.Asp137His) c.*299G>C (n.*299G>C) c.295G>C (p.Asp99His) c.193G>C (p.Asp65His) | COSMIC COSMIC |
| 7 | g.33021318C>T | CA367192705 | NT5C3A | c.256G>A (p.Asp86Asn) c.394G>A (p.Asp132Asn) c.292G>A (p.Asp98Asn) c.409G>A (p.Asp137Asn) c.*299G>A (n.*299G>A) c.295G>A (p.Asp99Asn) c.193G>A (p.Asp65Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021319A>C | CA454342597 | NT5C3A | c.255T>G (p.Val85=) c.393T>G (p.Val131=) c.291T>G (p.Val97=) c.408T>G (p.Val136=) c.*298T>G (n.*298T>G) c.294T>G (p.Val98=) c.192T>G (p.Val64=) | |
| 7 | g.33021319A>G | CA454342598 | NT5C3A | c.255T>C (p.Val85=) c.393T>C (p.Val131=) c.291T>C (p.Val97=) c.408T>C (p.Val136=) c.*298T>C (n.*298T>C) c.294T>C (p.Val98=) c.192T>C (p.Val64=) | |
| 7 | g.33021319A>T | CA454342599 | NT5C3A | c.255T>A (p.Val85=) c.393T>A (p.Val131=) c.291T>A (p.Val97=) c.408T>A (p.Val136=) c.*298T>A (n.*298T>A) c.294T>A (p.Val98=) c.192T>A (p.Val64=) | |
| 7 | g.33021320A>C | CA367192708 | NT5C3A | c.254T>G (p.Val85Gly) c.392T>G (p.Val131Gly) c.290T>G (p.Val97Gly) c.407T>G (p.Val136Gly) c.*297T>G (n.*297T>G) c.293T>G (p.Val98Gly) c.191T>G (p.Val64Gly) | |
| 7 | g.33021320A>G | CA367192710 | NT5C3A | c.254T>C (p.Val85Ala) c.392T>C (p.Val131Ala) c.290T>C (p.Val97Ala) c.407T>C (p.Val136Ala) c.*297T>C (n.*297T>C) c.293T>C (p.Val98Ala) c.191T>C (p.Val64Ala) | |
| 7 | g.33021320A>T | CA367192712 | NT5C3A | c.254T>A (p.Val85Asp) c.392T>A (p.Val131Asp) c.290T>A (p.Val97Asp) c.407T>A (p.Val136Asp) c.*297T>A (n.*297T>A) c.293T>A (p.Val98Asp) c.191T>A (p.Val64Asp) | |
| 7 | g.33021321C>A | CA367192714 | NT5C3A | c.253G>T (p.Val85Phe) c.391G>T (p.Val131Phe) c.289G>T (p.Val97Phe) c.406G>T (p.Val136Phe) c.*296G>T (n.*296G>T) c.292G>T (p.Val98Phe) c.190G>T (p.Val64Phe) | |
| 7 | g.33021321C>G | CA367192717 | NT5C3A | c.253G>C (p.Val85Leu) c.391G>C (p.Val131Leu) c.289G>C (p.Val97Leu) c.406G>C (p.Val136Leu) c.*296G>C (n.*296G>C) c.292G>C (p.Val98Leu) c.190G>C (p.Val64Leu) | |
| 7 | g.33021321C>T | CA367192719 | NT5C3A | c.253G>A (p.Val85Ile) c.391G>A (p.Val131Ile) c.289G>A (p.Val97Ile) c.406G>A (p.Val136Ile) c.*296G>A (n.*296G>A) c.292G>A (p.Val98Ile) c.190G>A (p.Val64Ile) | gnomAD v4 |
| 7 | g.33021321_33021322delinsCT | CA1698577263 | NT5C3A | c.252_253delinsAG (p.Glu84=) c.390_391delinsAG (p.Glu130=) c.288_289delinsAG (p.Glu96=) c.405_406delinsAG (p.Glu135=) c.*295_*296delinsAG (n.*295_*296delinsAG) c.291_292delinsAG (p.Glu97=) c.189_190delinsAG (p.Glu63=) | |
| 7 | g.33021322T>A | CA367192721 | NT5C3A | c.252A>T (p.Glu84Asp) c.390A>T (p.Glu130Asp) c.288A>T (p.Glu96Asp) c.405A>T (p.Glu135Asp) c.*295A>T (n.*295A>T) c.291A>T (p.Glu97Asp) c.189A>T (p.Glu63Asp) | |
| 7 | g.33021322T>C | CA454342604 | NT5C3A | c.252A>G (p.Glu84=) c.390A>G (p.Glu130=) c.288A>G (p.Glu96=) c.405A>G (p.Glu135=) c.*295A>G (n.*295A>G) c.291A>G (p.Glu97=) c.189A>G (p.Glu63=) | |
| 7 | g.33021322T>G | CA367192726 | NT5C3A | c.252A>C (p.Glu84Asp) c.390A>C (p.Glu130Asp) c.288A>C (p.Glu96Asp) c.405A>C (p.Glu135Asp) c.*295A>C (n.*295A>C) c.291A>C (p.Glu97Asp) c.189A>C (p.Glu63Asp) | |
| 7 | g.33021323del | CA4213444 | NT5C3A | c.252del (p.Val85LeufsTer7) c.390del (p.Val131LeufsTer7) c.288del (p.Val97LeufsTer7) c.405del (p.Val136LeufsTer7) c.*295del (n.*295del) c.291del (p.Val98LeufsTer7) c.189del (p.Val64LeufsTer7) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33021323T>A | CA367192732 | NT5C3A | c.251A>T (p.Glu84Val) c.389A>T (p.Glu130Val) c.287A>T (p.Glu96Val) c.404A>T (p.Glu135Val) c.*294A>T (n.*294A>T) c.290A>T (p.Glu97Val) c.188A>T (p.Glu63Val) | |
| 7 | g.33021323T>C | CA367192735 | NT5C3A | c.251A>G (p.Glu84Gly) c.389A>G (p.Glu130Gly) c.287A>G (p.Glu96Gly) c.404A>G (p.Glu135Gly) c.*294A>G (n.*294A>G) c.290A>G (p.Glu97Gly) c.188A>G (p.Glu63Gly) | |
| 7 | g.33021323T>G | CA367192731 | NT5C3A | c.251A>C (p.Glu84Ala) c.389A>C (p.Glu130Ala) c.287A>C (p.Glu96Ala) c.404A>C (p.Glu135Ala) c.*294A>C (n.*294A>C) c.290A>C (p.Glu97Ala) c.188A>C (p.Glu63Ala) | |
| 7 | g.33021324C>A | CA367192742 | NT5C3A | c.250G>T (p.Glu84Ter) c.388G>T (p.Glu130Ter) c.286G>T (p.Glu96Ter) c.403G>T (p.Glu135Ter) c.*293G>T (n.*293G>T) c.289G>T (p.Glu97Ter) c.187G>T (p.Glu63Ter) | COSMIC COSMIC |
| 7 | g.33021324C>G | CA367192738 | NT5C3A | c.250G>C (p.Glu84Gln) c.388G>C (p.Glu130Gln) c.286G>C (p.Glu96Gln) c.403G>C (p.Glu135Gln) c.*293G>C (n.*293G>C) c.289G>C (p.Glu97Gln) c.187G>C (p.Glu63Gln) | |
| 7 | g.33021324C>T | CA367192740 | NT5C3A | c.250G>A (p.Glu84Lys) c.388G>A (p.Glu130Lys) c.286G>A (p.Glu96Lys) c.403G>A (p.Glu135Lys) c.*293G>A (n.*293G>A) c.289G>A (p.Glu97Lys) c.187G>A (p.Glu63Lys) | |
| 7 | g.33021325A= | CA1698577264 | NT5C3A | c.249T= (p.Ile83=) c.387T= (p.Ile129=) c.285T= (p.Ile95=) c.402T= (p.Ile134=) c.*292T= (n.*292T=) c.288T= (p.Ile96=) c.186T= (p.Ile62=) | |
| 7 | g.33021325A>C | CA367192745 | NT5C3A | c.249T>G (p.Ile83Met) c.387T>G (p.Ile129Met) c.285T>G (p.Ile95Met) c.402T>G (p.Ile134Met) c.*292T>G (n.*292T>G) c.288T>G (p.Ile96Met) c.186T>G (p.Ile62Met) | |
| 7 | g.33021325A>G | CA156259784 | NT5C3A | c.249T>C (p.Ile83=) c.387T>C (p.Ile129=) c.285T>C (p.Ile95=) c.402T>C (p.Ile134=) c.*292T>C (n.*292T>C) c.288T>C (p.Ile96=) c.186T>C (p.Ile62=) | dbSNP gnomAD v4 |
| 7 | g.33021325A>T | CA454342609 | NT5C3A | c.249T>A (p.Ile83=) c.387T>A (p.Ile129=) c.285T>A (p.Ile95=) c.402T>A (p.Ile134=) c.*292T>A (n.*292T>A) c.288T>A (p.Ile96=) c.186T>A (p.Ile62=) | |
| 7 | g.33021326del | CA2682336302 | NT5C3A | c.249del (p.Ile83MetfsTer9) c.387del (p.Ile129MetfsTer9) c.285del (p.Ile95MetfsTer9) c.402del (p.Ile134MetfsTer9) c.*292del (n.*292del) c.288del (p.Ile96MetfsTer9) c.186del (p.Ile62MetfsTer9) | gnomAD v4 |
| 7 | g.33021326A= | CA1698577265 | NT5C3A | c.248T= (p.Ile83=) c.386T= (p.Ile129=) c.284T= (p.Ile95=) c.401T= (p.Ile134=) c.*291T= (n.*291T=) c.287T= (p.Ile96=) c.185T= (p.Ile62=) | |
| 7 | g.33021326A>C | CA367192748 | NT5C3A | c.248T>G (p.Ile83Ser) c.386T>G (p.Ile129Ser) c.284T>G (p.Ile95Ser) c.401T>G (p.Ile134Ser) c.*291T>G (n.*291T>G) c.287T>G (p.Ile96Ser) c.185T>G (p.Ile62Ser) | |
| 7 | g.33021326A>G | CA367192749 | NT5C3A | c.248T>C (p.Ile83Thr) c.386T>C (p.Ile129Thr) c.284T>C (p.Ile95Thr) c.401T>C (p.Ile134Thr) c.*291T>C (n.*291T>C) c.287T>C (p.Ile96Thr) c.185T>C (p.Ile62Thr) | dbSNP gnomAD v2 |
| 7 | g.33021326A>T | CA367192751 | NT5C3A | c.248T>A (p.Ile83Asn) c.386T>A (p.Ile129Asn) c.284T>A (p.Ile95Asn) c.401T>A (p.Ile134Asn) c.*291T>A (n.*291T>A) c.287T>A (p.Ile96Asn) c.185T>A (p.Ile62Asn) | |
| 7 | g.33021327T>A | CA367192754 | NT5C3A | c.247A>T (p.Ile83Phe) c.385A>T (p.Ile129Phe) c.283A>T (p.Ile95Phe) c.400A>T (p.Ile134Phe) c.*290A>T (n.*290A>T) c.286A>T (p.Ile96Phe) c.184A>T (p.Ile62Phe) | |
| 7 | g.33021327T>C | CA156259788 | NT5C3A | c.247A>G (p.Ile83Val) c.385A>G (p.Ile129Val) c.283A>G (p.Ile95Val) c.400A>G (p.Ile134Val) c.*290A>G (n.*290A>G) c.286A>G (p.Ile96Val) c.184A>G (p.Ile62Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.33021327T>G | CA367192757 | NT5C3A | c.247A>C (p.Ile83Leu) c.385A>C (p.Ile129Leu) c.283A>C (p.Ile95Leu) c.400A>C (p.Ile134Leu) c.*290A>C (n.*290A>C) c.286A>C (p.Ile96Leu) c.184A>C (p.Ile62Leu) | gnomAD v4 |
| 7 | g.33021327T= | CA1698577266 | NT5C3A | c.247A= (p.Ile83=) c.385A= (p.Ile129=) c.283A= (p.Ile95=) c.400A= (p.Ile134=) c.*290A= (n.*290A=) c.286A= (p.Ile96=) c.184A= (p.Ile62=) | |
| 7 | g.33021328A= | CA1698577267 | NT5C3A | c.246T= (p.Ala82=) c.384T= (p.Ala128=) c.282T= (p.Ala94=) c.399T= (p.Ala133=) c.*289T= (n.*289T=) c.285T= (p.Ala95=) c.183T= (p.Ala61=) | |
| 7 | g.33021328A>C | CA454342611 | NT5C3A | c.246T>G (p.Ala82=) c.384T>G (p.Ala128=) c.282T>G (p.Ala94=) c.399T>G (p.Ala133=) c.*289T>G (n.*289T>G) c.285T>G (p.Ala95=) c.183T>G (p.Ala61=) | |
| 7 | g.33021328A>G | CA454342612 | NT5C3A | c.246T>C (p.Ala82=) c.384T>C (p.Ala128=) c.282T>C (p.Ala94=) c.399T>C (p.Ala133=) c.*289T>C (n.*289T>C) c.285T>C (p.Ala95=) c.183T>C (p.Ala61=) | |
| 7 | g.33021328A>T | CA4213445 | NT5C3A | c.246T>A (p.Ala82=) c.384T>A (p.Ala128=) c.282T>A (p.Ala94=) c.399T>A (p.Ala133=) c.*289T>A (n.*289T>A) c.285T>A (p.Ala95=) c.183T>A (p.Ala61=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33021329G>A | CA367192761 | NT5C3A | c.245C>T (p.Ala82Val) c.383C>T (p.Ala128Val) c.281C>T (p.Ala94Val) c.398C>T (p.Ala133Val) c.*288C>T (n.*288C>T) c.284C>T (p.Ala95Val) c.182C>T (p.Ala61Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021329G>C | CA367192764 | NT5C3A | c.245C>G (p.Ala82Gly) c.383C>G (p.Ala128Gly) c.281C>G (p.Ala94Gly) c.398C>G (p.Ala133Gly) c.*288C>G (n.*288C>G) c.284C>G (p.Ala95Gly) c.182C>G (p.Ala61Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33021329G= | CA1698577268 | NT5C3A | c.245C= (p.Ala82=) c.383C= (p.Ala128=) c.281C= (p.Ala94=) c.398C= (p.Ala133=) c.*288C= (n.*288C=) c.284C= (p.Ala95=) c.182C= (p.Ala61=) | |
| 7 | g.33021329G>T | CA367192766 | NT5C3A | c.245C>A (p.Ala82Asp) c.383C>A (p.Ala128Asp) c.281C>A (p.Ala94Asp) c.398C>A (p.Ala133Asp) c.*288C>A (n.*288C>A) c.284C>A (p.Ala95Asp) c.182C>A (p.Ala61Asp) | |
| 7 | g.33021330C>A | CA367192771 | NT5C3A | c.244G>T (p.Ala82Ser) c.382G>T (p.Ala128Ser) c.280G>T (p.Ala94Ser) c.397G>T (p.Ala133Ser) c.*287G>T (n.*287G>T) c.283G>T (p.Ala95Ser) c.181G>T (p.Ala61Ser) | dbSNP gnomAD v3 gnomAD v4 |