UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 7 | g.33021330C= | CA1698577269 | NT5C3A | c.244G= (p.Ala82=) c.382G= (p.Ala128=) c.280G= (p.Ala94=) c.397G= (p.Ala133=) c.*287G= (n.*287G=) c.283G= (p.Ala95=) c.181G= (p.Ala61=) | |
| 7 | g.33021330C>G | CA4213447 | NT5C3A | c.244G>C (p.Ala82Pro) c.382G>C (p.Ala128Pro) c.280G>C (p.Ala94Pro) c.397G>C (p.Ala133Pro) c.*287G>C (n.*287G>C) c.283G>C (p.Ala95Pro) c.181G>C (p.Ala61Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33021330C>T | CA4213446 | NT5C3A | c.244G>A (p.Ala82Thr) c.382G>A (p.Ala128Thr) c.280G>A (p.Ala94Thr) c.397G>A (p.Ala133Thr) c.*287G>A (n.*287G>A) c.283G>A (p.Ala95Thr) c.181G>A (p.Ala61Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.33021331G>A | CA4213448 | NT5C3A | c.243C>T (p.Tyr81=) c.381C>T (p.Tyr127=) c.279C>T (p.Tyr93=) c.396C>T (p.Tyr132=) c.*286C>T (n.*286C>T) c.282C>T (p.Tyr94=) c.180C>T (p.Tyr60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021331G>C | CA367192775 | NT5C3A | c.243C>G (p.Tyr81Ter) c.381C>G (p.Tyr127Ter) c.279C>G (p.Tyr93Ter) c.396C>G (p.Tyr132Ter) c.*286C>G (n.*286C>G) c.282C>G (p.Tyr94Ter) c.180C>G (p.Tyr60Ter) | |
| 7 | g.33021331G= | CA1698577270 | NT5C3A | c.243C= (p.Tyr81=) c.381C= (p.Tyr127=) c.279C= (p.Tyr93=) c.396C= (p.Tyr132=) c.*286C= (n.*286C=) c.282C= (p.Tyr94=) c.180C= (p.Tyr60=) | |
| 7 | g.33021331G>T | CA367192777 | NT5C3A | c.243C>A (p.Tyr81Ter) c.381C>A (p.Tyr127Ter) c.279C>A (p.Tyr93Ter) c.396C>A (p.Tyr132Ter) c.*286C>A (n.*286C>A) c.282C>A (p.Tyr94Ter) c.180C>A (p.Tyr60Ter) | |
| 7 | g.33021332T>A | CA367192780 | NT5C3A | c.242A>T (p.Tyr81Phe) c.380A>T (p.Tyr127Phe) c.278A>T (p.Tyr93Phe) c.395A>T (p.Tyr132Phe) c.*285A>T (n.*285A>T) c.281A>T (p.Tyr94Phe) c.179A>T (p.Tyr60Phe) | |
| 7 | g.33021332T>C | CA367192783 | NT5C3A | c.242A>G (p.Tyr81Cys) c.380A>G (p.Tyr127Cys) c.278A>G (p.Tyr93Cys) c.395A>G (p.Tyr132Cys) c.*285A>G (n.*285A>G) c.281A>G (p.Tyr94Cys) c.179A>G (p.Tyr60Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021332T>G | CA367192785 | NT5C3A | c.242A>C (p.Tyr81Ser) c.380A>C (p.Tyr127Ser) c.278A>C (p.Tyr93Ser) c.395A>C (p.Tyr132Ser) c.*285A>C (n.*285A>C) c.281A>C (p.Tyr94Ser) c.179A>C (p.Tyr60Ser) | |
| 7 | g.33021332T= | CA1698577271 | NT5C3A | c.242A= (p.Tyr81=) c.380A= (p.Tyr127=) c.278A= (p.Tyr93=) c.395A= (p.Tyr132=) c.*285A= (n.*285A=) c.281A= (p.Tyr94=) c.179A= (p.Tyr60=) | |
| 7 | g.33021333A>C | CA367192787 | NT5C3A | c.241T>G (p.Tyr81Asp) c.379T>G (p.Tyr127Asp) c.277T>G (p.Tyr93Asp) c.394T>G (p.Tyr132Asp) c.*284T>G (n.*284T>G) c.280T>G (p.Tyr94Asp) c.178T>G (p.Tyr60Asp) | |
| 7 | g.33021333A>G | CA367192789 | NT5C3A | c.241T>C (p.Tyr81His) c.379T>C (p.Tyr127His) c.277T>C (p.Tyr93His) c.394T>C (p.Tyr132His) c.*284T>C (n.*284T>C) c.280T>C (p.Tyr94His) c.178T>C (p.Tyr60His) | gnomAD v4 |
| 7 | g.33021333A>T | CA367192791 | NT5C3A | c.241T>A (p.Tyr81Asn) c.379T>A (p.Tyr127Asn) c.277T>A (p.Tyr93Asn) c.394T>A (p.Tyr132Asn) c.*284T>A (n.*284T>A) c.280T>A (p.Tyr94Asn) c.178T>A (p.Tyr60Asn) | |
| 7 | g.33021334A= | CA1698577272 | NT5C3A | c.240T= (p.Tyr80=) c.378T= (p.Tyr126=) c.276T= (p.Tyr92=) c.393T= (p.Tyr131=) c.*283T= (n.*283T=) c.279T= (p.Tyr93=) c.177T= (p.Tyr59=) | |
| 7 | g.33021334A>C | CA367192794 | NT5C3A | c.240T>G (p.Tyr80Ter) c.378T>G (p.Tyr126Ter) c.276T>G (p.Tyr92Ter) c.393T>G (p.Tyr131Ter) c.*283T>G (n.*283T>G) c.279T>G (p.Tyr93Ter) c.177T>G (p.Tyr59Ter) | dbSNP gnomAD v4 |
| 7 | g.33021334A>G | CA4213449 | NT5C3A | c.240T>C (p.Tyr80=) c.378T>C (p.Tyr126=) c.276T>C (p.Tyr92=) c.393T>C (p.Tyr131=) c.*283T>C (n.*283T>C) c.279T>C (p.Tyr93=) c.177T>C (p.Tyr59=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021334A>T | CA367192797 | NT5C3A | c.240T>A (p.Tyr80Ter) c.378T>A (p.Tyr126Ter) c.276T>A (p.Tyr92Ter) c.393T>A (p.Tyr131Ter) c.*283T>A (n.*283T>A) c.279T>A (p.Tyr93Ter) c.177T>A (p.Tyr59Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33021335T>A | CA367192803 | NT5C3A | c.239A>T (p.Tyr80Phe) c.377A>T (p.Tyr126Phe) c.275A>T (p.Tyr92Phe) c.392A>T (p.Tyr131Phe) c.*282A>T (n.*282A>T) c.278A>T (p.Tyr93Phe) c.176A>T (p.Tyr59Phe) | |
| 7 | g.33021335T>C | CA4213450 | NT5C3A | c.239A>G (p.Tyr80Cys) c.377A>G (p.Tyr126Cys) c.275A>G (p.Tyr92Cys) c.392A>G (p.Tyr131Cys) c.*282A>G (n.*282A>G) c.278A>G (p.Tyr93Cys) c.176A>G (p.Tyr59Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33021335T>G | CA367192800 | NT5C3A | c.239A>C (p.Tyr80Ser) c.377A>C (p.Tyr126Ser) c.275A>C (p.Tyr92Ser) c.392A>C (p.Tyr131Ser) c.*282A>C (n.*282A>C) c.278A>C (p.Tyr93Ser) c.176A>C (p.Tyr59Ser) | gnomAD v4 |
| 7 | g.33021335T= | CA1698577273 | NT5C3A | c.239A= (p.Tyr80=) c.377A= (p.Tyr126=) c.275A= (p.Tyr92=) c.392A= (p.Tyr131=) c.*282A= (n.*282A=) c.278A= (p.Tyr93=) c.176A= (p.Tyr59=) | |
| 7 | g.33021336A>C | CA367192805 | NT5C3A | c.238T>G (p.Tyr80Asp) c.376T>G (p.Tyr126Asp) c.274T>G (p.Tyr92Asp) c.391T>G (p.Tyr131Asp) c.*281T>G (n.*281T>G) c.277T>G (p.Tyr93Asp) c.175T>G (p.Tyr59Asp) | |
| 7 | g.33021336A>G | CA367192807 | NT5C3A | c.238T>C (p.Tyr80His) c.376T>C (p.Tyr126His) c.274T>C (p.Tyr92His) c.391T>C (p.Tyr131His) c.*281T>C (n.*281T>C) c.277T>C (p.Tyr93His) c.175T>C (p.Tyr59His) | |
| 7 | g.33021336A>T | CA367192810 | NT5C3A | c.238T>A (p.Tyr80Asn) c.376T>A (p.Tyr126Asn) c.274T>A (p.Tyr92Asn) c.391T>A (p.Tyr131Asn) c.*281T>A (n.*281T>A) c.277T>A (p.Tyr93Asn) c.175T>A (p.Tyr59Asn) | gnomAD v4 |
| 7 | g.33021337T>A | CA367192813 | NT5C3A | c.237A>T (p.Lys79Asn) c.375A>T (p.Lys125Asn) c.273A>T (p.Lys91Asn) c.390A>T (p.Lys130Asn) c.*280A>T (n.*280A>T) c.276A>T (p.Lys92Asn) c.174A>T (p.Lys58Asn) | |
| 7 | g.33021337T>C | CA454342622 | NT5C3A | c.237A>G (p.Lys79=) c.375A>G (p.Lys125=) c.273A>G (p.Lys91=) c.390A>G (p.Lys130=) c.*280A>G (n.*280A>G) c.276A>G (p.Lys92=) c.174A>G (p.Lys58=) | |
| 7 | g.33021337T>G | CA367192814 | NT5C3A | c.237A>C (p.Lys79Asn) c.375A>C (p.Lys125Asn) c.273A>C (p.Lys91Asn) c.390A>C (p.Lys130Asn) c.*280A>C (n.*280A>C) c.276A>C (p.Lys92Asn) c.174A>C (p.Lys58Asn) | |
| 7 | g.33021338T>A | CA367192817 | NT5C3A | c.236A>T (p.Lys79Ile) c.374A>T (p.Lys125Ile) c.272A>T (p.Lys91Ile) c.389A>T (p.Lys130Ile) c.*279A>T (n.*279A>T) c.275A>T (p.Lys92Ile) c.173A>T (p.Lys58Ile) | dbSNP gnomAD v4 |
| 7 | g.33021338T>C | CA367192819 | NT5C3A | c.236A>G (p.Lys79Arg) c.374A>G (p.Lys125Arg) c.272A>G (p.Lys91Arg) c.389A>G (p.Lys130Arg) c.*279A>G (n.*279A>G) c.275A>G (p.Lys92Arg) c.173A>G (p.Lys58Arg) | |
| 7 | g.33021338T>G | CA367192821 | NT5C3A | c.236A>C (p.Lys79Thr) c.374A>C (p.Lys125Thr) c.272A>C (p.Lys91Thr) c.389A>C (p.Lys130Thr) c.*279A>C (n.*279A>C) c.275A>C (p.Lys92Thr) c.173A>C (p.Lys58Thr) | |
| 7 | g.33021338T= | CA1698577274 | NT5C3A | c.236A= (p.Lys79=) c.374A= (p.Lys125=) c.272A= (p.Lys91=) c.389A= (p.Lys130=) c.*279A= (n.*279A=) c.275A= (p.Lys92=) c.173A= (p.Lys58=) | |
| 7 | g.33021339T>A | CA367192823 | NT5C3A | c.235A>T (p.Lys79Ter) c.373A>T (p.Lys125Ter) c.271A>T (p.Lys91Ter) c.388A>T (p.Lys130Ter) c.*278A>T (n.*278A>T) c.274A>T (p.Lys92Ter) c.172A>T (p.Lys58Ter) | |
| 7 | g.33021339T>C | CA367192825 | NT5C3A | c.235A>G (p.Lys79Glu) c.373A>G (p.Lys125Glu) c.271A>G (p.Lys91Glu) c.388A>G (p.Lys130Glu) c.*278A>G (n.*278A>G) c.274A>G (p.Lys92Glu) c.172A>G (p.Lys58Glu) | gnomAD v4 |
| 7 | g.33021339T>G | CA367192827 | NT5C3A | c.235A>C (p.Lys79Gln) c.373A>C (p.Lys125Gln) c.271A>C (p.Lys91Gln) c.388A>C (p.Lys130Gln) c.*278A>C (n.*278A>C) c.274A>C (p.Lys92Gln) c.172A>C (p.Lys58Gln) | |
| 7 | g.33021340T>A | CA367192831 | NT5C3A | c.234A>T (p.Glu78Asp) c.372A>T (p.Glu124Asp) c.270A>T (p.Glu90Asp) c.387A>T (p.Glu129Asp) c.*277A>T (n.*277A>T) c.273A>T (p.Glu91Asp) c.171A>T (p.Glu57Asp) | |
| 7 | g.33021340T>C | CA454342625 | NT5C3A | c.234A>G (p.Glu78=) c.372A>G (p.Glu124=) c.270A>G (p.Glu90=) c.387A>G (p.Glu129=) c.*277A>G (n.*277A>G) c.273A>G (p.Glu91=) c.171A>G (p.Glu57=) | |
| 7 | g.33021340T>G | CA367192833 | NT5C3A | c.234A>C (p.Glu78Asp) c.372A>C (p.Glu124Asp) c.270A>C (p.Glu90Asp) c.387A>C (p.Glu129Asp) c.*277A>C (n.*277A>C) c.273A>C (p.Glu91Asp) c.171A>C (p.Glu57Asp) | |
| 7 | g.33021341T>A | CA367192837 | NT5C3A | c.233A>T (p.Glu78Val) c.371A>T (p.Glu124Val) c.269A>T (p.Glu90Val) c.386A>T (p.Glu129Val) c.*276A>T (n.*276A>T) c.272A>T (p.Glu91Val) c.170A>T (p.Glu57Val) | |
| 7 | g.33021341T>C | CA367192839 | NT5C3A | c.233A>G (p.Glu78Gly) c.371A>G (p.Glu124Gly) c.269A>G (p.Glu90Gly) c.386A>G (p.Glu129Gly) c.*276A>G (n.*276A>G) c.272A>G (p.Glu91Gly) c.170A>G (p.Glu57Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33021341T>G | CA367192834 | NT5C3A | c.233A>C (p.Glu78Ala) c.371A>C (p.Glu124Ala) c.269A>C (p.Glu90Ala) c.386A>C (p.Glu129Ala) c.*276A>C (n.*276A>C) c.272A>C (p.Glu91Ala) c.170A>C (p.Glu57Ala) | gnomAD v4 |
| 7 | g.33021341T= | CA1698577275 | NT5C3A | c.233A= (p.Glu78=) c.371A= (p.Glu124=) c.269A= (p.Glu90=) c.386A= (p.Glu129=) c.*276A= (n.*276A=) c.272A= (p.Glu91=) c.170A= (p.Glu57=) | |
| 7 | g.33021342C>A | CA367192841 | NT5C3A | c.232G>T (p.Glu78Ter) c.370G>T (p.Glu124Ter) c.268G>T (p.Glu90Ter) c.385G>T (p.Glu129Ter) c.*275G>T (n.*275G>T) c.271G>T (p.Glu91Ter) c.169G>T (p.Glu57Ter) | |
| 7 | g.33021342C>G | CA367192843 | NT5C3A | c.232G>C (p.Glu78Gln) c.370G>C (p.Glu124Gln) c.268G>C (p.Glu90Gln) c.385G>C (p.Glu129Gln) c.*275G>C (n.*275G>C) c.271G>C (p.Glu91Gln) c.169G>C (p.Glu57Gln) | |
| 7 | g.33021342C>T | CA367192844 | NT5C3A | c.232G>A (p.Glu78Lys) c.370G>A (p.Glu124Lys) c.268G>A (p.Glu90Lys) c.385G>A (p.Glu129Lys) c.*275G>A (n.*275G>A) c.271G>A (p.Glu91Lys) c.169G>A (p.Glu57Lys) | gnomAD v4 |
| 7 | g.33021343C>A | CA367192847 | NT5C3A | c.231G>T (p.Lys77Asn) c.369G>T (p.Lys123Asn) c.267G>T (p.Lys89Asn) c.384G>T (p.Lys128Asn) c.*274G>T (n.*274G>T) c.270G>T (p.Lys90Asn) c.168G>T (p.Lys56Asn) | |
| 7 | g.33021343C>G | CA367192848 | NT5C3A | c.231G>C (p.Lys77Asn) c.369G>C (p.Lys123Asn) c.267G>C (p.Lys89Asn) c.384G>C (p.Lys128Asn) c.*274G>C (n.*274G>C) c.270G>C (p.Lys90Asn) c.168G>C (p.Lys56Asn) | |
| 7 | g.33021343C>T | CA454342626 | NT5C3A | c.231G>A (p.Lys77=) c.369G>A (p.Lys123=) c.267G>A (p.Lys89=) c.384G>A (p.Lys128=) c.*274G>A (n.*274G>A) c.270G>A (p.Lys90=) c.168G>A (p.Lys56=) | gnomAD v4 |
| 7 | g.33021344T>A | CA156259805 | NT5C3A | c.230A>T (p.Lys77Met) c.368A>T (p.Lys123Met) c.266A>T (p.Lys89Met) c.383A>T (p.Lys128Met) c.*273A>T (n.*273A>T) c.269A>T (p.Lys90Met) c.167A>T (p.Lys56Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021344T>C | CA367192851 | NT5C3A | c.230A>G (p.Lys77Arg) c.368A>G (p.Lys123Arg) c.266A>G (p.Lys89Arg) c.383A>G (p.Lys128Arg) c.*273A>G (n.*273A>G) c.269A>G (p.Lys90Arg) c.167A>G (p.Lys56Arg) | |
| 7 | g.33021344T>G | CA367192853 | NT5C3A | c.230A>C (p.Lys77Thr) c.368A>C (p.Lys123Thr) c.266A>C (p.Lys89Thr) c.383A>C (p.Lys128Thr) c.*273A>C (n.*273A>C) c.269A>C (p.Lys90Thr) c.167A>C (p.Lys56Thr) | |
| 7 | g.33021344T= | CA1698577276 | NT5C3A | c.230A= (p.Lys77=) c.368A= (p.Lys123=) c.266A= (p.Lys89=) c.383A= (p.Lys128=) c.*273A= (n.*273A=) c.269A= (p.Lys90=) c.167A= (p.Lys56=) | |
| 7 | g.33021345T>A | CA367192857 | NT5C3A | c.229A>T (p.Lys77Ter) c.367A>T (p.Lys123Ter) c.265A>T (p.Lys89Ter) c.382A>T (p.Lys128Ter) c.*272A>T (n.*272A>T) c.268A>T (p.Lys90Ter) c.166A>T (p.Lys56Ter) | |
| 7 | g.33021345T>C | CA367192858 | NT5C3A | c.229A>G (p.Lys77Glu) c.367A>G (p.Lys123Glu) c.265A>G (p.Lys89Glu) c.382A>G (p.Lys128Glu) c.*272A>G (n.*272A>G) c.268A>G (p.Lys90Glu) c.166A>G (p.Lys56Glu) | |
| 7 | g.33021345T>G | CA367192861 | NT5C3A | c.229A>C (p.Lys77Gln) c.367A>C (p.Lys123Gln) c.265A>C (p.Lys89Gln) c.382A>C (p.Lys128Gln) c.*272A>C (n.*272A>C) c.268A>C (p.Lys90Gln) c.166A>C (p.Lys56Gln) | |
| 7 | g.33021346T>A | CA454342628 | NT5C3A | c.228A>T (p.Leu76=) c.366A>T (p.Leu122=) c.264A>T (p.Leu88=) c.381A>T (p.Leu127=) c.*271A>T (n.*271A>T) c.267A>T (p.Leu89=) c.165A>T (p.Leu55=) | |
| 7 | g.33021346T>C | CA454342629 | NT5C3A | c.228A>G (p.Leu76=) c.366A>G (p.Leu122=) c.264A>G (p.Leu88=) c.381A>G (p.Leu127=) c.*271A>G (n.*271A>G) c.267A>G (p.Leu89=) c.165A>G (p.Leu55=) | gnomAD v4 |
| 7 | g.33021346T>G | CA454342630 | NT5C3A | c.228A>C (p.Leu76=) c.366A>C (p.Leu122=) c.264A>C (p.Leu88=) c.381A>C (p.Leu127=) c.*271A>C (n.*271A>C) c.267A>C (p.Leu89=) c.165A>C (p.Leu55=) | |
| 7 | g.33021347A>C | CA367192865 | NT5C3A | c.227T>G (p.Leu76Arg) c.365T>G (p.Leu122Arg) c.263T>G (p.Leu88Arg) c.380T>G (p.Leu127Arg) c.*270T>G (n.*270T>G) c.266T>G (p.Leu89Arg) c.164T>G (p.Leu55Arg) | |
| 7 | g.33021347A>G | CA367192867 | NT5C3A | c.227T>C (p.Leu76Pro) c.365T>C (p.Leu122Pro) c.263T>C (p.Leu88Pro) c.380T>C (p.Leu127Pro) c.*270T>C (n.*270T>C) c.266T>C (p.Leu89Pro) c.164T>C (p.Leu55Pro) | |
| 7 | g.33021347A>T | CA367192869 | NT5C3A | c.227T>A (p.Leu76Gln) c.365T>A (p.Leu122Gln) c.263T>A (p.Leu88Gln) c.380T>A (p.Leu127Gln) c.*270T>A (n.*270T>A) c.266T>A (p.Leu89Gln) c.164T>A (p.Leu55Gln) | gnomAD v4 |
| 7 | g.33021348G>A | CA454342631 | NT5C3A | c.226C>T (p.Leu76=) c.364C>T (p.Leu122=) c.262C>T (p.Leu88=) c.379C>T (p.Leu127=) c.*269C>T (n.*269C>T) c.265C>T (p.Leu89=) c.163C>T (p.Leu55=) | |
| 7 | g.33021348G>C | CA367192872 | NT5C3A | c.226C>G (p.Leu76Val) c.364C>G (p.Leu122Val) c.262C>G (p.Leu88Val) c.379C>G (p.Leu127Val) c.*269C>G (n.*269C>G) c.265C>G (p.Leu89Val) c.163C>G (p.Leu55Val) | |
| 7 | g.33021348G>T | CA367192873 | NT5C3A | c.226C>A (p.Leu76Ile) c.364C>A (p.Leu122Ile) c.262C>A (p.Leu88Ile) c.379C>A (p.Leu127Ile) c.*269C>A (n.*269C>A) c.265C>A (p.Leu89Ile) c.163C>A (p.Leu55Ile) | gnomAD v4 |
| 7 | g.33021349T>A | CA367192875 | NT5C3A | c.225A>T (p.Gln75His) c.363A>T (p.Gln121His) c.261A>T (p.Gln87His) c.378A>T (p.Gln126His) c.*268A>T (n.*268A>T) c.264A>T (p.Gln88His) c.162A>T (p.Gln54His) | |
| 7 | g.33021349T>C | CA454342632 | NT5C3A | c.225A>G (p.Gln75=) c.363A>G (p.Gln121=) c.261A>G (p.Gln87=) c.378A>G (p.Gln126=) c.*268A>G (n.*268A>G) c.264A>G (p.Gln88=) c.162A>G (p.Gln54=) | |
| 7 | g.33021349T>G | CA367192877 | NT5C3A | c.225A>C (p.Gln75His) c.363A>C (p.Gln121His) c.261A>C (p.Gln87His) c.378A>C (p.Gln126His) c.*268A>C (n.*268A>C) c.264A>C (p.Gln88His) c.162A>C (p.Gln54His) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33021349T= | CA1698577277 | NT5C3A | c.225A= (p.Gln75=) c.363A= (p.Gln121=) c.261A= (p.Gln87=) c.378A= (p.Gln126=) c.*268A= (n.*268A=) c.264A= (p.Gln88=) c.162A= (p.Gln54=) | |
| 7 | g.33021350T>A | CA367192880 | NT5C3A | c.224A>T (p.Gln75Leu) c.362A>T (p.Gln121Leu) c.260A>T (p.Gln87Leu) c.377A>T (p.Gln126Leu) c.*267A>T (n.*267A>T) c.263A>T (p.Gln88Leu) c.161A>T (p.Gln54Leu) | |
| 7 | g.33021350T>C | CA367192884 | NT5C3A | c.224A>G (p.Gln75Arg) c.362A>G (p.Gln121Arg) c.260A>G (p.Gln87Arg) c.377A>G (p.Gln126Arg) c.*267A>G (n.*267A>G) c.263A>G (p.Gln88Arg) c.161A>G (p.Gln54Arg) | |
| 7 | g.33021350T>G | CA367192882 | NT5C3A | c.224A>C (p.Gln75Pro) c.362A>C (p.Gln121Pro) c.260A>C (p.Gln87Pro) c.377A>C (p.Gln126Pro) c.*267A>C (n.*267A>C) c.263A>C (p.Gln88Pro) c.161A>C (p.Gln54Pro) | ClinVar |
| 7 | g.33021351G>A | CA367192888 | NT5C3A | c.223C>T (p.Gln75Ter) c.361C>T (p.Gln121Ter) c.259C>T (p.Gln87Ter) c.376C>T (p.Gln126Ter) c.*266C>T (n.*266C>T) c.262C>T (p.Gln88Ter) c.160C>T (p.Gln54Ter) | |
| 7 | g.33021351G>C | CA367192889 | NT5C3A | c.223C>G (p.Gln75Glu) c.361C>G (p.Gln121Glu) c.259C>G (p.Gln87Glu) c.376C>G (p.Gln126Glu) c.*266C>G (n.*266C>G) c.262C>G (p.Gln88Glu) c.160C>G (p.Gln54Glu) | gnomAD v4 |
| 7 | g.33021351G>T | CA367192891 | NT5C3A | c.223C>A (p.Gln75Lys) c.361C>A (p.Gln121Lys) c.259C>A (p.Gln87Lys) c.376C>A (p.Gln126Lys) c.*266C>A (n.*266C>A) c.262C>A (p.Gln88Lys) c.160C>A (p.Gln54Lys) | |
| 7 | g.33021352C>A | CA367192893 | NT5C3A | c.222G>T (p.Leu74Phe) c.360G>T (p.Leu120Phe) c.258G>T (p.Leu86Phe) c.375G>T (p.Leu125Phe) c.*265G>T (n.*265G>T) c.261G>T (p.Leu87Phe) c.159G>T (p.Leu53Phe) | |
| 7 | g.33021352C= | CA1698577278 | NT5C3A | c.222G= (p.Leu74=) c.360G= (p.Leu120=) c.258G= (p.Leu86=) c.375G= (p.Leu125=) c.*265G= (n.*265G=) c.261G= (p.Leu87=) c.159G= (p.Leu53=) | |
| 7 | g.33021352C>G | CA367192894 | NT5C3A | c.222G>C (p.Leu74Phe) c.360G>C (p.Leu120Phe) c.258G>C (p.Leu86Phe) c.375G>C (p.Leu125Phe) c.*265G>C (n.*265G>C) c.261G>C (p.Leu87Phe) c.159G>C (p.Leu53Phe) | |
| 7 | g.33021352C>T | CA454342637 | NT5C3A | c.222G>A (p.Leu74=) c.360G>A (p.Leu120=) c.258G>A (p.Leu86=) c.375G>A (p.Leu125=) c.*265G>A (n.*265G>A) c.261G>A (p.Leu87=) c.159G>A (p.Leu53=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33021353A>C | CA367192896 | NT5C3A | c.221T>G (p.Leu74Trp) c.359T>G (p.Leu120Trp) c.257T>G (p.Leu86Trp) c.374T>G (p.Leu125Trp) c.*264T>G (n.*264T>G) c.260T>G (p.Leu87Trp) c.158T>G (p.Leu53Trp) | |
| 7 | g.33021353A>G | CA367192897 | NT5C3A | c.221T>C (p.Leu74Ser) c.359T>C (p.Leu120Ser) c.257T>C (p.Leu86Ser) c.374T>C (p.Leu125Ser) c.*264T>C (n.*264T>C) c.260T>C (p.Leu87Ser) c.158T>C (p.Leu53Ser) | |
| 7 | g.33021353A>T | CA367192899 | NT5C3A | c.221T>A (p.Leu74Ter) c.359T>A (p.Leu120Ter) c.257T>A (p.Leu86Ter) c.374T>A (p.Leu125Ter) c.*264T>A (n.*264T>A) c.260T>A (p.Leu87Ter) c.158T>A (p.Leu53Ter) | |
| 7 | g.33021354A= | CA1698577279 | NT5C3A | c.220T= (p.Leu74=) c.358T= (p.Leu120=) c.256T= (p.Leu86=) c.373T= (p.Leu125=) c.*263T= (n.*263T=) c.259T= (p.Leu87=) c.157T= (p.Leu53=) | |
| 7 | g.33021354A>C | CA367192902 | NT5C3A | c.220T>G (p.Leu74Val) c.358T>G (p.Leu120Val) c.256T>G (p.Leu86Val) c.373T>G (p.Leu125Val) c.*263T>G (n.*263T>G) c.259T>G (p.Leu87Val) c.157T>G (p.Leu53Val) | |
| 7 | g.33021354A>G | CA4213451 | NT5C3A | c.220T>C (p.Leu74=) c.358T>C (p.Leu120=) c.256T>C (p.Leu86=) c.373T>C (p.Leu125=) c.*263T>C (n.*263T>C) c.259T>C (p.Leu87=) c.157T>C (p.Leu53=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021354A>T | CA367192905 | NT5C3A | c.220T>A (p.Leu74Met) c.358T>A (p.Leu120Met) c.256T>A (p.Leu86Met) c.373T>A (p.Leu125Met) c.*263T>A (n.*263T>A) c.259T>A (p.Leu87Met) c.157T>A (p.Leu53Met) | |
| 7 | g.33021355T>A | CA367192907 | NT5C3A | c.219A>T (p.Leu73Phe) c.357A>T (p.Leu119Phe) c.255A>T (p.Leu85Phe) c.372A>T (p.Leu124Phe) c.*262A>T (n.*262A>T) c.258A>T (p.Leu86Phe) c.156A>T (p.Leu52Phe) | |
| 7 | g.33021355T>C | CA454342642 | NT5C3A | c.219A>G (p.Leu73=) c.357A>G (p.Leu119=) c.255A>G (p.Leu85=) c.372A>G (p.Leu124=) c.*262A>G (n.*262A>G) c.258A>G (p.Leu86=) c.156A>G (p.Leu52=) | gnomAD v4 |
| 7 | g.33021355T>G | CA367192908 | NT5C3A | c.219A>C (p.Leu73Phe) c.357A>C (p.Leu119Phe) c.255A>C (p.Leu85Phe) c.372A>C (p.Leu124Phe) c.*262A>C (n.*262A>C) c.258A>C (p.Leu86Phe) c.156A>C (p.Leu52Phe) | |
| 7 | g.33021356A>C | CA367192911 | NT5C3A | c.218T>G (p.Leu73Ter) c.356T>G (p.Leu119Ter) c.254T>G (p.Leu85Ter) c.371T>G (p.Leu124Ter) c.*261T>G (n.*261T>G) c.257T>G (p.Leu86Ter) c.155T>G (p.Leu52Ter) | |
| 7 | g.33021356A>G | CA367192914 | NT5C3A | c.218T>C (p.Leu73Ser) c.356T>C (p.Leu119Ser) c.254T>C (p.Leu85Ser) c.371T>C (p.Leu124Ser) c.*261T>C (n.*261T>C) c.257T>C (p.Leu86Ser) c.155T>C (p.Leu52Ser) | |
| 7 | g.33021356A>T | CA367192913 | NT5C3A | c.218T>A (p.Leu73Ter) c.356T>A (p.Leu119Ter) c.254T>A (p.Leu85Ter) c.371T>A (p.Leu124Ter) c.*261T>A (n.*261T>A) c.257T>A (p.Leu86Ter) c.155T>A (p.Leu52Ter) | |
| 7 | g.33021357A>C | CA367192917 | NT5C3A | c.217T>G (p.Leu73Val) c.355T>G (p.Leu119Val) c.253T>G (p.Leu85Val) c.370T>G (p.Leu124Val) c.*260T>G (n.*260T>G) c.256T>G (p.Leu86Val) c.154T>G (p.Leu52Val) | |
| 7 | g.33021357A>G | CA454342645 | NT5C3A | c.217T>C (p.Leu73=) c.355T>C (p.Leu119=) c.253T>C (p.Leu85=) c.370T>C (p.Leu124=) c.*260T>C (n.*260T>C) c.256T>C (p.Leu86=) c.154T>C (p.Leu52=) | |
| 7 | g.33021357A>T | CA367192919 | NT5C3A | c.217T>A (p.Leu73Ile) c.355T>A (p.Leu119Ile) c.253T>A (p.Leu85Ile) c.370T>A (p.Leu124Ile) c.*260T>A (n.*260T>A) c.256T>A (p.Leu86Ile) c.154T>A (p.Leu52Ile) | |
| 7 | g.33021358C>A | CA367192921 | NT5C3A | c.217-1G>T (n.217-1G>T) c.355-1G>T (n.355-1G>T) c.253-1G>T (n.253-1G>T) c.370-1G>T (n.370-1G>T) c.*260-1G>T (n.*260-1G>T) c.256-1G>T (n.256-1G>T) c.154-1G>T (n.154-1G>T) | |
| 7 | g.33021358C>G | CA367192923 | NT5C3A | c.217-1G>C (n.217-1G>C) c.355-1G>C (n.355-1G>C) c.253-1G>C (n.253-1G>C) c.370-1G>C (n.370-1G>C) c.*260-1G>C (n.*260-1G>C) c.256-1G>C (n.256-1G>C) c.154-1G>C (n.154-1G>C) | gnomAD v4 |
| 7 | g.33021358C>T | CA367192925 | NT5C3A | c.217-1G>A (n.217-1G>A) c.355-1G>A (n.355-1G>A) c.253-1G>A (n.253-1G>A) c.370-1G>A (n.370-1G>A) c.*260-1G>A (n.*260-1G>A) c.256-1G>A (n.256-1G>A) c.154-1G>A (n.154-1G>A) | |
| 7 | g.33021359T>A | CA367192929 | NT5C3A | c.217-2A>T (n.217-2A>T) c.355-2A>T (n.355-2A>T) c.253-2A>T (n.253-2A>T) c.370-2A>T (n.370-2A>T) c.*260-2A>T (n.*260-2A>T) c.256-2A>T (n.256-2A>T) c.154-2A>T (n.154-2A>T) | |
| 7 | g.33021359T>C | CA367192931 | NT5C3A | c.217-2A>G (n.217-2A>G) c.355-2A>G (n.355-2A>G) c.253-2A>G (n.253-2A>G) c.370-2A>G (n.370-2A>G) c.*260-2A>G (n.*260-2A>G) c.256-2A>G (n.256-2A>G) c.154-2A>G (n.154-2A>G) | gnomAD v4 |
| 7 | g.33021359T>G | CA367192933 | NT5C3A | c.217-2A>C (n.217-2A>C) c.355-2A>C (n.355-2A>C) c.253-2A>C (n.253-2A>C) c.370-2A>C (n.370-2A>C) c.*260-2A>C (n.*260-2A>C) c.256-2A>C (n.256-2A>C) c.154-2A>C (n.154-2A>C) | |
| 7 | g.33021361G>C | CA2682336303 | NT5C3A | c.217-4C>G (n.217-4C>G) c.355-4C>G (n.355-4C>G) c.253-4C>G (n.253-4C>G) c.370-4C>G (n.370-4C>G) c.*260-4C>G (n.*260-4C>G) c.256-4C>G (n.256-4C>G) c.154-4C>G (n.154-4C>G) | gnomAD v4 |
| 7 | g.33021362del | CA2531262094 | NT5C3A | c.217-4del (n.217-4del) c.355-4del (n.355-4del) c.253-4del (n.253-4del) c.370-4del (n.370-4del) c.*260-4del (n.*260-4del) c.256-4del (n.256-4del) c.154-4del (n.154-4del) | gnomAD v4 |
| 7 | g.33021362G>A | CA2682336304 | NT5C3A | c.217-5C>T (n.217-5C>T) c.355-5C>T (n.355-5C>T) c.253-5C>T (n.253-5C>T) c.370-5C>T (n.370-5C>T) c.*260-5C>T (n.*260-5C>T) c.256-5C>T (n.256-5C>T) c.154-5C>T (n.154-5C>T) | gnomAD v4 |
| 7 | g.33021364A= | CA1698577280 | NT5C3A | c.217-7T= (n.217-7T=) c.355-7T= (n.355-7T=) c.253-7T= (n.253-7T=) c.370-7T= (n.370-7T=) c.*260-7T= (n.*260-7T=) c.256-7T= (n.256-7T=) c.154-7T= (n.154-7T=) | |
| 7 | g.33021364A>G | CA573519180 | NT5C3A | c.217-7T>C (n.217-7T>C) c.355-7T>C (n.355-7T>C) c.253-7T>C (n.253-7T>C) c.370-7T>C (n.370-7T>C) c.*260-7T>C (n.*260-7T>C) c.256-7T>C (n.256-7T>C) c.154-7T>C (n.154-7T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021365G>C | CA2682336305 | NT5C3A | c.217-8C>G (n.217-8C>G) c.355-8C>G (n.355-8C>G) c.253-8C>G (n.253-8C>G) c.370-8C>G (n.370-8C>G) c.*260-8C>G (n.*260-8C>G) c.256-8C>G (n.256-8C>G) c.154-8C>G (n.154-8C>G) | gnomAD v4 |
| 7 | g.33021365G= | CA1698577281 | NT5C3A | c.217-8C= (n.217-8C=) c.355-8C= (n.355-8C=) c.253-8C= (n.253-8C=) c.370-8C= (n.370-8C=) c.*260-8C= (n.*260-8C=) c.256-8C= (n.256-8C=) c.154-8C= (n.154-8C=) | |
| 7 | g.33021365G>T | CA573519181 | NT5C3A | c.217-8C>A (n.217-8C>A) c.355-8C>A (n.355-8C>A) c.253-8C>A (n.253-8C>A) c.370-8C>A (n.370-8C>A) c.*260-8C>A (n.*260-8C>A) c.256-8C>A (n.256-8C>A) c.154-8C>A (n.154-8C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021369T>C | CA4213452 | NT5C3A | c.217-12A>G (n.217-12A>G) c.355-12A>G (n.355-12A>G) c.253-12A>G (n.253-12A>G) c.370-12A>G (n.370-12A>G) c.*260-12A>G (n.*260-12A>G) c.256-12A>G (n.256-12A>G) c.154-12A>G (n.154-12A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021369T= | CA1698577282 | NT5C3A | c.217-12A= (n.217-12A=) c.355-12A= (n.355-12A=) c.253-12A= (n.253-12A=) c.370-12A= (n.370-12A=) c.*260-12A= (n.*260-12A=) c.256-12A= (n.256-12A=) c.154-12A= (n.154-12A=) | |
| 7 | g.33021373T>A | CA1698577284 | NT5C3A | c.217-16A>T (n.217-16A>T) c.355-16A>T (n.355-16A>T) c.253-16A>T (n.253-16A>T) c.370-16A>T (n.370-16A>T) c.*260-16A>T (n.*260-16A>T) c.256-16A>T (n.256-16A>T) c.154-16A>T (n.154-16A>T) | dbSNP |
| 7 | g.33021373T>G | CA573519182 | NT5C3A | c.217-16A>C (n.217-16A>C) c.355-16A>C (n.355-16A>C) c.253-16A>C (n.253-16A>C) c.370-16A>C (n.370-16A>C) c.*260-16A>C (n.*260-16A>C) c.256-16A>C (n.256-16A>C) c.154-16A>C (n.154-16A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021373T= | CA1698577283 | NT5C3A | c.217-16A= (n.217-16A=) c.355-16A= (n.355-16A=) c.253-16A= (n.253-16A=) c.370-16A= (n.370-16A=) c.*260-16A= (n.*260-16A=) c.256-16A= (n.256-16A=) c.154-16A= (n.154-16A=) | |
| 7 | g.33021376del | CA2774962848 | NT5C3A | c.217-19del (n.217-19del) c.355-19del (n.355-19del) c.253-19del (n.253-19del) c.370-19del (n.370-19del) c.*260-19del (n.*260-19del) c.256-19del (n.256-19del) c.154-19del (n.154-19del) | |
| 7 | g.33021378T>A | CA2682336306 | NT5C3A | c.217-21A>T (n.217-21A>T) c.355-21A>T (n.355-21A>T) c.253-21A>T (n.253-21A>T) c.370-21A>T (n.370-21A>T) c.*260-21A>T (n.*260-21A>T) c.256-21A>T (n.256-21A>T) c.154-21A>T (n.154-21A>T) | gnomAD v4 |
| 7 | g.33021379A>G | CA2682336307 | NT5C3A | c.217-22T>C (n.217-22T>C) c.355-22T>C (n.355-22T>C) c.253-22T>C (n.253-22T>C) c.370-22T>C (n.370-22T>C) c.*260-22T>C (n.*260-22T>C) c.256-22T>C (n.256-22T>C) c.154-22T>C (n.154-22T>C) | gnomAD v4 |
| 7 | g.33021380A= | CA1698577285 | NT5C3A | c.217-23T= (n.217-23T=) c.355-23T= (n.355-23T=) c.253-23T= (n.253-23T=) c.370-23T= (n.370-23T=) c.*260-23T= (n.*260-23T=) c.256-23T= (n.256-23T=) c.154-23T= (n.154-23T=) | |
| 7 | g.33021380A>G | CA573519183 | NT5C3A | c.217-23T>C (n.217-23T>C) c.355-23T>C (n.355-23T>C) c.253-23T>C (n.253-23T>C) c.370-23T>C (n.370-23T>C) c.*260-23T>C (n.*260-23T>C) c.256-23T>C (n.256-23T>C) c.154-23T>C (n.154-23T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021381T>A | CA2682336308 | NT5C3A | c.217-24A>T (n.217-24A>T) c.355-24A>T (n.355-24A>T) c.253-24A>T (n.253-24A>T) c.370-24A>T (n.370-24A>T) c.*260-24A>T (n.*260-24A>T) c.256-24A>T (n.256-24A>T) c.154-24A>T (n.154-24A>T) | gnomAD v4 |
| 7 | g.33021381T>C | CA2682336309 | NT5C3A | c.217-24A>G (n.217-24A>G) c.355-24A>G (n.355-24A>G) c.253-24A>G (n.253-24A>G) c.370-24A>G (n.370-24A>G) c.*260-24A>G (n.*260-24A>G) c.256-24A>G (n.256-24A>G) c.154-24A>G (n.154-24A>G) | gnomAD v4 |
| 7 | g.33021381_33021382delinsTC | CA1698577286 | NT5C3A | c.217-25_217-24delinsGA (n.217-25_217-24delinsGA) c.355-25_355-24delinsGA (n.355-25_355-24delinsGA) c.253-25_253-24delinsGA (n.253-25_253-24delinsGA) c.370-25_370-24delinsGA (n.370-25_370-24delinsGA) c.*260-25_*260-24delinsGA (n.*260-25_*260-24delinsGA) c.256-25_256-24delinsGA (n.256-25_256-24delinsGA) c.154-25_154-24delinsGA (n.154-25_154-24delinsGA) | |
| 7 | g.33021382del | CA4213453 | NT5C3A | c.217-25del (n.217-25del) c.355-25del (n.355-25del) c.253-25del (n.253-25del) c.370-25del (n.370-25del) c.*260-25del (n.*260-25del) c.256-25del (n.256-25del) c.154-25del (n.154-25del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021382C>A | CA2682336310 | NT5C3A | c.217-25G>T (n.217-25G>T) c.355-25G>T (n.355-25G>T) c.253-25G>T (n.253-25G>T) c.370-25G>T (n.370-25G>T) c.*260-25G>T (n.*260-25G>T) c.256-25G>T (n.256-25G>T) c.154-25G>T (n.154-25G>T) | gnomAD v4 |
| 7 | g.33021382_33021383delinsCA | CA1698577287 | NT5C3A | c.217-26_217-25delinsTG (n.217-26_217-25delinsTG) c.355-26_355-25delinsTG (n.355-26_355-25delinsTG) c.253-26_253-25delinsTG (n.253-26_253-25delinsTG) c.370-26_370-25delinsTG (n.370-26_370-25delinsTG) c.*260-26_*260-25delinsTG (n.*260-26_*260-25delinsTG) c.256-26_256-25delinsTG (n.256-26_256-25delinsTG) c.154-26_154-25delinsTG (n.154-26_154-25delinsTG) | |
| 7 | g.33021383del | CA1100016254 | NT5C3A | c.217-26del (n.217-26del) c.355-26del (n.355-26del) c.253-26del (n.253-26del) c.370-26del (n.370-26del) c.*260-26del (n.*260-26del) c.256-26del (n.256-26del) c.154-26del (n.154-26del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33021384T>A | CA573519184 | NT5C3A | c.217-27A>T (n.217-27A>T) c.355-27A>T (n.355-27A>T) c.253-27A>T (n.253-27A>T) c.370-27A>T (n.370-27A>T) c.*260-27A>T (n.*260-27A>T) c.256-27A>T (n.256-27A>T) c.154-27A>T (n.154-27A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021384T>C | CA2682336311 | NT5C3A | c.217-27A>G (n.217-27A>G) c.355-27A>G (n.355-27A>G) c.253-27A>G (n.253-27A>G) c.370-27A>G (n.370-27A>G) c.*260-27A>G (n.*260-27A>G) c.256-27A>G (n.256-27A>G) c.154-27A>G (n.154-27A>G) | gnomAD v4 |
| 7 | g.33021384T= | CA1698577288 | NT5C3A | c.217-27A= (n.217-27A=) c.355-27A= (n.355-27A=) c.253-27A= (n.253-27A=) c.370-27A= (n.370-27A=) c.*260-27A= (n.*260-27A=) c.256-27A= (n.256-27A=) c.154-27A= (n.154-27A=) | |
| 7 | g.33021385G>A | CA4213454 | NT5C3A | c.217-28C>T (n.217-28C>T) c.355-28C>T (n.355-28C>T) c.253-28C>T (n.253-28C>T) c.370-28C>T (n.370-28C>T) c.*260-28C>T (n.*260-28C>T) c.256-28C>T (n.256-28C>T) c.154-28C>T (n.154-28C>T) | dbSNP ExAC gnomAD v2 |
| 7 | g.33021385G= | CA1698577289 | NT5C3A | c.217-28C= (n.217-28C=) c.355-28C= (n.355-28C=) c.253-28C= (n.253-28C=) c.370-28C= (n.370-28C=) c.*260-28C= (n.*260-28C=) c.256-28C= (n.256-28C=) c.154-28C= (n.154-28C=) | |
| 7 | g.33021387A= | CA1698577290 | NT5C3A | c.217-30T= (n.217-30T=) c.355-30T= (n.355-30T=) c.253-30T= (n.253-30T=) c.370-30T= (n.370-30T=) c.*260-30T= (n.*260-30T=) c.256-30T= (n.256-30T=) c.154-30T= (n.154-30T=) | |
| 7 | g.33021387A>G | CA156259823 | NT5C3A | c.217-30T>C (n.217-30T>C) c.355-30T>C (n.355-30T>C) c.253-30T>C (n.253-30T>C) c.370-30T>C (n.370-30T>C) c.*260-30T>C (n.*260-30T>C) c.256-30T>C (n.256-30T>C) c.154-30T>C (n.154-30T>C) | dbSNP gnomAD v4 |
| 7 | g.33021388G>A | CA837722196 | NT5C3A | c.217-31C>T (n.217-31C>T) c.355-31C>T (n.355-31C>T) c.253-31C>T (n.253-31C>T) c.370-31C>T (n.370-31C>T) c.*260-31C>T (n.*260-31C>T) c.256-31C>T (n.256-31C>T) c.154-31C>T (n.154-31C>T) | dbSNP |
| 7 | g.33021388G= | CA1698577291 | NT5C3A | c.217-31C= (n.217-31C=) c.355-31C= (n.355-31C=) c.253-31C= (n.253-31C=) c.370-31C= (n.370-31C=) c.*260-31C= (n.*260-31C=) c.256-31C= (n.256-31C=) c.154-31C= (n.154-31C=) | |
| 7 | g.33021388G>T | CA2682336312 | NT5C3A | c.217-31C>A (n.217-31C>A) c.355-31C>A (n.355-31C>A) c.253-31C>A (n.253-31C>A) c.370-31C>A (n.370-31C>A) c.*260-31C>A (n.*260-31C>A) c.256-31C>A (n.256-31C>A) c.154-31C>A (n.154-31C>A) | gnomAD v4 |
| 7 | g.33021390T>C | CA2682336313 | NT5C3A | c.217-33A>G (n.217-33A>G) c.355-33A>G (n.355-33A>G) c.253-33A>G (n.253-33A>G) c.370-33A>G (n.370-33A>G) c.*260-33A>G (n.*260-33A>G) c.256-33A>G (n.256-33A>G) c.154-33A>G (n.154-33A>G) | gnomAD v4 |
| 7 | g.33021391_33021429del | CA2774962849 | NT5C3A | c.217-72_217-34del (n.217-72_217-34del) c.355-72_355-34del (n.355-72_355-34del) c.253-72_253-34del (n.253-72_253-34del) c.370-72_370-34del (n.370-72_370-34del) c.*260-72_*260-34del (n.*260-72_*260-34del) c.256-72_256-34del (n.256-72_256-34del) c.154-72_154-34del (n.154-72_154-34del) | |
| 7 | g.33021392A= | CA1698577292 | NT5C3A | c.217-35T= (n.217-35T=) c.355-35T= (n.355-35T=) c.253-35T= (n.253-35T=) c.370-35T= (n.370-35T=) c.*260-35T= (n.*260-35T=) c.256-35T= (n.256-35T=) c.154-35T= (n.154-35T=) | |
| 7 | g.33021392A>C | CA4213455 | NT5C3A | c.217-35T>G (n.217-35T>G) c.355-35T>G (n.355-35T>G) c.253-35T>G (n.253-35T>G) c.370-35T>G (n.370-35T>G) c.*260-35T>G (n.*260-35T>G) c.256-35T>G (n.256-35T>G) c.154-35T>G (n.154-35T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33021393C>T | CA2682336314 | NT5C3A | c.217-36G>A (n.217-36G>A) c.355-36G>A (n.355-36G>A) c.253-36G>A (n.253-36G>A) c.370-36G>A (n.370-36G>A) c.*260-36G>A (n.*260-36G>A) c.256-36G>A (n.256-36G>A) c.154-36G>A (n.154-36G>A) | dbSNP gnomAD v4 |
| 7 | g.33021393_33021394delinsCT | CA1698577293 | NT5C3A | c.217-37_217-36delinsAG (n.217-37_217-36delinsAG) c.355-37_355-36delinsAG (n.355-37_355-36delinsAG) c.253-37_253-36delinsAG (n.253-37_253-36delinsAG) c.370-37_370-36delinsAG (n.370-37_370-36delinsAG) c.*260-37_*260-36delinsAG (n.*260-37_*260-36delinsAG) c.256-37_256-36delinsAG (n.256-37_256-36delinsAG) c.154-37_154-36delinsAG (n.154-37_154-36delinsAG) | |
| 7 | g.33021394T>C | CA4213456 | NT5C3A | c.217-37A>G (n.217-37A>G) c.355-37A>G (n.355-37A>G) c.253-37A>G (n.253-37A>G) c.370-37A>G (n.370-37A>G) c.*260-37A>G (n.*260-37A>G) c.256-37A>G (n.256-37A>G) c.154-37A>G (n.154-37A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33021394T= | CA1698577294 | NT5C3A | c.217-37A= (n.217-37A=) c.355-37A= (n.355-37A=) c.253-37A= (n.253-37A=) c.370-37A= (n.370-37A=) c.*260-37A= (n.*260-37A=) c.256-37A= (n.256-37A=) c.154-37A= (n.154-37A=) | |
| 7 | g.33021395del | CA573519185 | NT5C3A | c.217-37del (n.217-37del) c.355-37del (n.355-37del) c.253-37del (n.253-37del) c.370-37del (n.370-37del) c.*260-37del (n.*260-37del) c.256-37del (n.256-37del) c.154-37del (n.154-37del) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021395T>G | CA573519186 | NT5C3A | c.217-38A>C (n.217-38A>C) c.355-38A>C (n.355-38A>C) c.253-38A>C (n.253-38A>C) c.370-38A>C (n.370-38A>C) c.*260-38A>C (n.*260-38A>C) c.256-38A>C (n.256-38A>C) c.154-38A>C (n.154-38A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021395T= | CA1698577295 | NT5C3A | c.217-38A= (n.217-38A=) c.355-38A= (n.355-38A=) c.253-38A= (n.253-38A=) c.370-38A= (n.370-38A=) c.*260-38A= (n.*260-38A=) c.256-38A= (n.256-38A=) c.154-38A= (n.154-38A=) | |
| 7 | g.33021398A>C | CA2682336316 | NT5C3A | c.217-41T>G (n.217-41T>G) c.355-41T>G (n.355-41T>G) c.253-41T>G (n.253-41T>G) c.370-41T>G (n.370-41T>G) c.*260-41T>G (n.*260-41T>G) c.256-41T>G (n.256-41T>G) c.154-41T>G (n.154-41T>G) | gnomAD v4 |
| 7 | g.33021402_33021405del | CA2682336315 | NT5C3A | c.217-44_217-41del (n.217-44_217-41del) c.355-44_355-41del (n.355-44_355-41del) c.253-44_253-41del (n.253-44_253-41del) c.370-44_370-41del (n.370-44_370-41del) c.*260-44_*260-41del (n.*260-44_*260-41del) c.256-44_256-41del (n.256-44_256-41del) c.154-44_154-41del (n.154-44_154-41del) | gnomAD v4 |
| 7 | g.33021400A= | CA1698577296 | NT5C3A | c.217-43T= (n.217-43T=) c.355-43T= (n.355-43T=) c.253-43T= (n.253-43T=) c.370-43T= (n.370-43T=) c.*260-43T= (n.*260-43T=) c.256-43T= (n.256-43T=) c.154-43T= (n.154-43T=) | |
| 7 | g.33021400A>T | CA1698577297 | NT5C3A | c.217-43T>A (n.217-43T>A) c.355-43T>A (n.355-43T>A) c.253-43T>A (n.253-43T>A) c.370-43T>A (n.370-43T>A) c.*260-43T>A (n.*260-43T>A) c.256-43T>A (n.256-43T>A) c.154-43T>A (n.154-43T>A) | dbSNP |
| 7 | g.33021401T>C | CA2682336317 | NT5C3A | c.217-44A>G (n.217-44A>G) c.355-44A>G (n.355-44A>G) c.253-44A>G (n.253-44A>G) c.370-44A>G (n.370-44A>G) c.*260-44A>G (n.*260-44A>G) c.256-44A>G (n.256-44A>G) c.154-44A>G (n.154-44A>G) | gnomAD v4 |
| 7 | g.33021405T>A | CA4213457 | NT5C3A | c.217-48A>T (n.217-48A>T) c.355-48A>T (n.355-48A>T) c.253-48A>T (n.253-48A>T) c.370-48A>T (n.370-48A>T) c.*260-48A>T (n.*260-48A>T) c.256-48A>T (n.256-48A>T) c.154-48A>T (n.154-48A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021405T= | CA1698577298 | NT5C3A | c.217-48A= (n.217-48A=) c.355-48A= (n.355-48A=) c.253-48A= (n.253-48A=) c.370-48A= (n.370-48A=) c.*260-48A= (n.*260-48A=) c.256-48A= (n.256-48A=) c.154-48A= (n.154-48A=) | |
| 7 | g.33021406C>A | CA4213458 | NT5C3A | c.217-49G>T (n.217-49G>T) c.355-49G>T (n.355-49G>T) c.253-49G>T (n.253-49G>T) c.370-49G>T (n.370-49G>T) c.*260-49G>T (n.*260-49G>T) c.256-49G>T (n.256-49G>T) c.154-49G>T (n.154-49G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33021406C= | CA1698577299 | NT5C3A | c.217-49G= (n.217-49G=) c.355-49G= (n.355-49G=) c.253-49G= (n.253-49G=) c.370-49G= (n.370-49G=) c.*260-49G= (n.*260-49G=) c.256-49G= (n.256-49G=) c.154-49G= (n.154-49G=) | |
| 7 | g.33021406C>T | CA4213459 | NT5C3A | c.217-49G>A (n.217-49G>A) c.355-49G>A (n.355-49G>A) c.253-49G>A (n.253-49G>A) c.370-49G>A (n.370-49G>A) c.*260-49G>A (n.*260-49G>A) c.256-49G>A (n.256-49G>A) c.154-49G>A (n.154-49G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33021408_33021410del | CA2682336318 | NT5C3A | c.217-51_217-49del (n.217-51_217-49del) c.355-51_355-49del (n.355-51_355-49del) c.253-51_253-49del (n.253-51_253-49del) c.370-51_370-49del (n.370-51_370-49del) c.*260-51_*260-49del (n.*260-51_*260-49del) c.256-51_256-49del (n.256-51_256-49del) c.154-51_154-49del (n.154-51_154-49del) | gnomAD v4 |
| 7 | g.33021408G>C | CA573519187 | NT5C3A | c.217-51C>G (n.217-51C>G) c.355-51C>G (n.355-51C>G) c.253-51C>G (n.253-51C>G) c.370-51C>G (n.370-51C>G) c.*260-51C>G (n.*260-51C>G) c.256-51C>G (n.256-51C>G) c.154-51C>G (n.154-51C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021408G= | CA1698577300 | NT5C3A | c.217-51C= (n.217-51C=) c.355-51C= (n.355-51C=) c.253-51C= (n.253-51C=) c.370-51C= (n.370-51C=) c.*260-51C= (n.*260-51C=) c.256-51C= (n.256-51C=) c.154-51C= (n.154-51C=) | |
| 7 | g.33021409C>A | CA2682336319 | NT5C3A | c.217-52G>T (n.217-52G>T) c.355-52G>T (n.355-52G>T) c.253-52G>T (n.253-52G>T) c.370-52G>T (n.370-52G>T) c.*260-52G>T (n.*260-52G>T) c.256-52G>T (n.256-52G>T) c.154-52G>T (n.154-52G>T) | gnomAD v4 |
| 7 | g.33021409_33021410delinsCT | CA1698577301 | NT5C3A | c.217-53_217-52delinsAG (n.217-53_217-52delinsAG) c.355-53_355-52delinsAG (n.355-53_355-52delinsAG) c.253-53_253-52delinsAG (n.253-53_253-52delinsAG) c.370-53_370-52delinsAG (n.370-53_370-52delinsAG) c.*260-53_*260-52delinsAG (n.*260-53_*260-52delinsAG) c.256-53_256-52delinsAG (n.256-53_256-52delinsAG) c.154-53_154-52delinsAG (n.154-53_154-52delinsAG) | |
| 7 | g.33021410T>A | CA2682336320 | NT5C3A | c.217-53A>T (n.217-53A>T) c.355-53A>T (n.355-53A>T) c.253-53A>T (n.253-53A>T) c.370-53A>T (n.370-53A>T) c.*260-53A>T (n.*260-53A>T) c.256-53A>T (n.256-53A>T) c.154-53A>T (n.154-53A>T) | gnomAD v4 |
| 7 | g.33021411del | CA1698577302 | NT5C3A | c.217-53del (n.217-53del) c.355-53del (n.355-53del) c.253-53del (n.253-53del) c.370-53del (n.370-53del) c.*260-53del (n.*260-53del) c.256-53del (n.256-53del) c.154-53del (n.154-53del) | dbSNP |
| 7 | g.33021412G>A | CA2682336321 | NT5C3A | c.217-55C>T (n.217-55C>T) c.355-55C>T (n.355-55C>T) c.253-55C>T (n.253-55C>T) c.370-55C>T (n.370-55C>T) c.*260-55C>T (n.*260-55C>T) c.256-55C>T (n.256-55C>T) c.154-55C>T (n.154-55C>T) | gnomAD v4 |
| 7 | g.33021412G>C | CA156259858 | NT5C3A | c.217-55C>G (n.217-55C>G) c.355-55C>G (n.355-55C>G) c.253-55C>G (n.253-55C>G) c.370-55C>G (n.370-55C>G) c.*260-55C>G (n.*260-55C>G) c.256-55C>G (n.256-55C>G) c.154-55C>G (n.154-55C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33021412G= | CA1698577303 | NT5C3A | c.217-55C= (n.217-55C=) c.355-55C= (n.355-55C=) c.253-55C= (n.253-55C=) c.370-55C= (n.370-55C=) c.*260-55C= (n.*260-55C=) c.256-55C= (n.256-55C=) c.154-55C= (n.154-55C=) | |
| 7 | g.33021412G>T | CA2682336322 | NT5C3A | c.217-55C>A (n.217-55C>A) c.355-55C>A (n.355-55C>A) c.253-55C>A (n.253-55C>A) c.370-55C>A (n.370-55C>A) c.*260-55C>A (n.*260-55C>A) c.256-55C>A (n.256-55C>A) c.154-55C>A (n.154-55C>A) | gnomAD v4 |
| 7 | g.33021413G>A | CA2682336323 | NT5C3A | c.217-56C>T (n.217-56C>T) c.355-56C>T (n.355-56C>T) c.253-56C>T (n.253-56C>T) c.370-56C>T (n.370-56C>T) c.*260-56C>T (n.*260-56C>T) c.256-56C>T (n.256-56C>T) c.154-56C>T (n.154-56C>T) | gnomAD v4 |
| 7 | g.33021414T>C | CA2682336324 | NT5C3A | c.217-57A>G (n.217-57A>G) c.355-57A>G (n.355-57A>G) c.253-57A>G (n.253-57A>G) c.370-57A>G (n.370-57A>G) c.*260-57A>G (n.*260-57A>G) c.256-57A>G (n.256-57A>G) c.154-57A>G (n.154-57A>G) | gnomAD v4 |
| 7 | g.33021419T>C | CA1698577305 | NT5C3A | c.217-62A>G (n.217-62A>G) c.355-62A>G (n.355-62A>G) c.253-62A>G (n.253-62A>G) c.370-62A>G (n.370-62A>G) c.*260-62A>G (n.*260-62A>G) c.256-62A>G (n.256-62A>G) c.154-62A>G (n.154-62A>G) | dbSNP gnomAD v4 |
| 7 | g.33021419T= | CA1698577304 | NT5C3A | c.217-62A= (n.217-62A=) c.355-62A= (n.355-62A=) c.253-62A= (n.253-62A=) c.370-62A= (n.370-62A=) c.*260-62A= (n.*260-62A=) c.256-62A= (n.256-62A=) c.154-62A= (n.154-62A=) | |
| 7 | g.33021421G>A | CA156259866 | NT5C3A | c.217-64C>T (n.217-64C>T) c.355-64C>T (n.355-64C>T) c.253-64C>T (n.253-64C>T) c.370-64C>T (n.370-64C>T) c.*260-64C>T (n.*260-64C>T) c.256-64C>T (n.256-64C>T) c.154-64C>T (n.154-64C>T) | dbSNP |
| 7 | g.33021421G>C | CA2682336325 | NT5C3A | c.217-64C>G (n.217-64C>G) c.355-64C>G (n.355-64C>G) c.253-64C>G (n.253-64C>G) c.370-64C>G (n.370-64C>G) c.*260-64C>G (n.*260-64C>G) c.256-64C>G (n.256-64C>G) c.154-64C>G (n.154-64C>G) | gnomAD v4 |
| 7 | g.33021421G= | CA1698577306 | NT5C3A | c.217-64C= (n.217-64C=) c.355-64C= (n.355-64C=) c.253-64C= (n.253-64C=) c.370-64C= (n.370-64C=) c.*260-64C= (n.*260-64C=) c.256-64C= (n.256-64C=) c.154-64C= (n.154-64C=) |