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.33017390A>T | CA2578864020 | NT5C3A | c.555+49T>A (n.555+49T>A) c.693+49T>A (n.693+49T>A) c.591+49T>A (n.591+49T>A) c.708+49T>A (n.708+49T>A) c.*22T>A (n.*22T>A) c.*598+49T>A (n.*598+49T>A) c.594+49T>A (n.594+49T>A) c.492+49T>A (n.492+49T>A) | |
| 7 | g.33017399_33017400insAATCATGTAAATTTATTTATTGTTACTTAATATATTTT | CA2682335934 | NT5C3A | c.555+46_555+47insATTAAGTAACAATAAATAAATTTACATGATTAAAATAT (n.555+46_555+47insATTAAGTAACAATAAATAAATTTACATGATTAAAATAT) c.693+46_693+47insATTAAGTAACAATAAATAAATTTACATGATTAAAATAT (n.693+46_693+47insATTAAGTAACAATAAATAAATTTACATGATTAAAATAT) c.591+46_591+47insATTAAGTAACAATAAATAAATTTACATGATTAAAATAT (n.591+46_591+47insATTAAGTAACAATAAATAAATTTACATGATTAAAATAT) c.708+46_708+47insATTAAGTAACAATAAATAAATTTACATGATTAAAATAT (n.708+46_708+47insATTAAGTAACAATAAATAAATTTACATGATTAAAATAT) c.*19_*20insATTAAGTAACAATAAATAAATTTACATGATTAAAATAT (n.*19_*20insATTAAGTAACAATAAATAAATTTACATGATTAAAATAT) c.*598+46_*598+47insATTAAGTAACAATAAATAAATTTACATGATTAAAATAT (n.*598+46_*598+47insATTAAGTAACAATAAATAAATTTACATGATTAAAATAT) c.594+46_594+47insATTAAGTAACAATAAATAAATTTACATGATTAAAATAT (n.594+46_594+47insATTAAGTAACAATAAATAAATTTACATGATTAAAATAT) c.492+46_492+47insATTAAGTAACAATAAATAAATTTACATGATTAAAATAT (n.492+46_492+47insATTAAGTAACAATAAATAAATTTACATGATTAAAATAT) | gnomAD v4 |
| 7 | g.33017394_33017395delinsTA | CA1698575570 | NT5C3A | c.555+44_555+45delinsTA (n.555+44_555+45delinsTA) c.693+44_693+45delinsTA (n.693+44_693+45delinsTA) c.591+44_591+45delinsTA (n.591+44_591+45delinsTA) c.708+44_708+45delinsTA (n.708+44_708+45delinsTA) c.*17_*18delinsTA (n.*17_*18delinsTA) c.*598+44_*598+45delinsTA (n.*598+44_*598+45delinsTA) c.594+44_594+45delinsTA (n.594+44_594+45delinsTA) c.492+44_492+45delinsTA (n.492+44_492+45delinsTA) | |
| 7 | g.33017395del | CA573761164 | NT5C3A | c.555+44del (n.555+44del) c.693+44del (n.693+44del) c.591+44del (n.591+44del) c.708+44del (n.708+44del) c.*17del (n.*17del) c.*598+44del (n.*598+44del) c.594+44del (n.594+44del) c.492+44del (n.492+44del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33017396T>C | CA4213338 | NT5C3A | c.555+43A>G (n.555+43A>G) c.693+43A>G (n.693+43A>G) c.591+43A>G (n.591+43A>G) c.708+43A>G (n.708+43A>G) c.*16A>G (n.*16A>G) c.*598+43A>G (n.*598+43A>G) c.594+43A>G (n.594+43A>G) c.492+43A>G (n.492+43A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33017396T= | CA1698575571 | NT5C3A | c.555+43A= (n.555+43A=) c.693+43A= (n.693+43A=) c.591+43A= (n.591+43A=) c.708+43A= (n.708+43A=) c.*16A= (n.*16A=) c.*598+43A= (n.*598+43A=) c.594+43A= (n.594+43A=) c.492+43A= (n.492+43A=) | |
| 7 | g.33017398T>C | CA837719617 | NT5C3A | c.555+41A>G (n.555+41A>G) c.693+41A>G (n.693+41A>G) c.591+41A>G (n.591+41A>G) c.708+41A>G (n.708+41A>G) c.*14A>G (n.*14A>G) c.*598+41A>G (n.*598+41A>G) c.594+41A>G (n.594+41A>G) c.492+41A>G (n.492+41A>G) | dbSNP |
| 7 | g.33017398T= | CA1698575572 | NT5C3A | c.555+41A= (n.555+41A=) c.693+41A= (n.693+41A=) c.591+41A= (n.591+41A=) c.708+41A= (n.708+41A=) c.*14A= (n.*14A=) c.*598+41A= (n.*598+41A=) c.594+41A= (n.594+41A=) c.492+41A= (n.492+41A=) | |
| 7 | g.33017399T>A | CA1698575574 | NT5C3A | c.555+40A>T (n.555+40A>T) c.693+40A>T (n.693+40A>T) c.591+40A>T (n.591+40A>T) c.708+40A>T (n.708+40A>T) c.*13A>T (n.*13A>T) c.*598+40A>T (n.*598+40A>T) c.594+40A>T (n.594+40A>T) c.492+40A>T (n.492+40A>T) | dbSNP |
| 7 | g.33017399T>C | CA2682335935 | NT5C3A | c.555+40A>G (n.555+40A>G) c.693+40A>G (n.693+40A>G) c.591+40A>G (n.591+40A>G) c.708+40A>G (n.708+40A>G) c.*13A>G (n.*13A>G) c.*598+40A>G (n.*598+40A>G) c.594+40A>G (n.594+40A>G) c.492+40A>G (n.492+40A>G) | gnomAD v4 |
| 7 | g.33017399T= | CA1698575573 | NT5C3A | c.555+40A= (n.555+40A=) c.693+40A= (n.693+40A=) c.591+40A= (n.591+40A=) c.708+40A= (n.708+40A=) c.*13A= (n.*13A=) c.*598+40A= (n.*598+40A=) c.594+40A= (n.594+40A=) c.492+40A= (n.492+40A=) | |
| 7 | g.33017401A= | CA1698575575 | NT5C3A | c.555+38T= (n.555+38T=) c.693+38T= (n.693+38T=) c.591+38T= (n.591+38T=) c.708+38T= (n.708+38T=) c.*11T= (n.*11T=) c.*598+38T= (n.*598+38T=) c.594+38T= (n.594+38T=) c.492+38T= (n.492+38T=) | |
| 7 | g.33017401A>C | CA573761165 | NT5C3A | c.555+38T>G (n.555+38T>G) c.693+38T>G (n.693+38T>G) c.591+38T>G (n.591+38T>G) c.708+38T>G (n.708+38T>G) c.*11T>G (n.*11T>G) c.*598+38T>G (n.*598+38T>G) c.594+38T>G (n.594+38T>G) c.492+38T>G (n.492+38T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33017401A>G | CA2682335936 | NT5C3A | c.555+38T>C (n.555+38T>C) c.693+38T>C (n.693+38T>C) c.591+38T>C (n.591+38T>C) c.708+38T>C (n.708+38T>C) c.*11T>C (n.*11T>C) c.*598+38T>C (n.*598+38T>C) c.594+38T>C (n.594+38T>C) c.492+38T>C (n.492+38T>C) | gnomAD v4 |
| 7 | g.33017402G>T | CA2682335937 | NT5C3A | c.555+37C>A (n.555+37C>A) c.693+37C>A (n.693+37C>A) c.591+37C>A (n.591+37C>A) c.708+37C>A (n.708+37C>A) c.*10C>A (n.*10C>A) c.*598+37C>A (n.*598+37C>A) c.594+37C>A (n.594+37C>A) c.492+37C>A (n.492+37C>A) | gnomAD v4 |
| 7 | g.33017403A= | CA1698575576 | NT5C3A | c.555+36T= (n.555+36T=) c.693+36T= (n.693+36T=) c.591+36T= (n.591+36T=) c.708+36T= (n.708+36T=) c.*9T= (n.*9T=) c.*598+36T= (n.*598+36T=) c.594+36T= (n.594+36T=) c.492+36T= (n.492+36T=) | |
| 7 | g.33017403A>G | CA2682335938 | NT5C3A | c.555+36T>C (n.555+36T>C) c.693+36T>C (n.693+36T>C) c.591+36T>C (n.591+36T>C) c.708+36T>C (n.708+36T>C) c.*9T>C (n.*9T>C) c.*598+36T>C (n.*598+36T>C) c.594+36T>C (n.594+36T>C) c.492+36T>C (n.492+36T>C) | gnomAD v4 |
| 7 | g.33017403A>T | CA1698575577 | NT5C3A | c.555+36T>A (n.555+36T>A) c.693+36T>A (n.693+36T>A) c.591+36T>A (n.591+36T>A) c.708+36T>A (n.708+36T>A) c.*9T>A (n.*9T>A) c.*598+36T>A (n.*598+36T>A) c.594+36T>A (n.594+36T>A) c.492+36T>A (n.492+36T>A) | dbSNP gnomAD v4 |
| 7 | g.33017404T>C | CA2682335939 | NT5C3A | c.555+35A>G (n.555+35A>G) c.693+35A>G (n.693+35A>G) c.591+35A>G (n.591+35A>G) c.708+35A>G (n.708+35A>G) c.*8A>G (n.*8A>G) c.*598+35A>G (n.*598+35A>G) c.594+35A>G (n.594+35A>G) c.492+35A>G (n.492+35A>G) | gnomAD v4 |
| 7 | g.33017407T>C | CA156257134 | NT5C3A | c.555+32A>G (n.555+32A>G) c.693+32A>G (n.693+32A>G) c.591+32A>G (n.591+32A>G) c.708+32A>G (n.708+32A>G) c.*5A>G (n.*5A>G) c.*598+32A>G (n.*598+32A>G) c.594+32A>G (n.594+32A>G) c.492+32A>G (n.492+32A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33017407T= | CA1698575578 | NT5C3A | c.555+32A= (n.555+32A=) c.693+32A= (n.693+32A=) c.591+32A= (n.591+32A=) c.708+32A= (n.708+32A=) c.*5A= (n.*5A=) c.*598+32A= (n.*598+32A=) c.594+32A= (n.594+32A=) c.492+32A= (n.492+32A=) | |
| 7 | g.33017408A= | CA1698575579 | NT5C3A | c.555+31T= (n.555+31T=) c.693+31T= (n.693+31T=) c.591+31T= (n.591+31T=) c.708+31T= (n.708+31T=) c.*4T= (n.*4T=) c.*598+31T= (n.*598+31T=) c.594+31T= (n.594+31T=) c.492+31T= (n.492+31T=) | |
| 7 | g.33017408A>G | CA4213339 | NT5C3A | c.555+31T>C (n.555+31T>C) c.693+31T>C (n.693+31T>C) c.591+31T>C (n.591+31T>C) c.708+31T>C (n.708+31T>C) c.*4T>C (n.*4T>C) c.*598+31T>C (n.*598+31T>C) c.594+31T>C (n.594+31T>C) c.492+31T>C (n.492+31T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33017408A>T | CA2578864021 | NT5C3A | c.555+31T>A (n.555+31T>A) c.693+31T>A (n.693+31T>A) c.591+31T>A (n.591+31T>A) c.708+31T>A (n.708+31T>A) c.*4T>A (n.*4T>A) c.*598+31T>A (n.*598+31T>A) c.594+31T>A (n.594+31T>A) c.492+31T>A (n.492+31T>A) | gnomAD v4 |
| 7 | g.33017412T>A | CA367191474 | NT5C3A | c.555+27A>T (n.555+27A>T) c.693+27A>T (n.693+27A>T) c.591+27A>T (n.591+27A>T) c.708+27A>T (n.708+27A>T) c.618A>T (p.Ter206Tyr) c.*598+27A>T (n.*598+27A>T) c.594+27A>T (n.594+27A>T) c.492+27A>T (n.492+27A>T) | |
| 7 | g.33017412T>C | CA651462293 | NT5C3A | c.555+27A>G (n.555+27A>G) c.693+27A>G (n.693+27A>G) c.591+27A>G (n.591+27A>G) c.708+27A>G (n.708+27A>G) c.618A>G (p.Ter206=) c.*598+27A>G (n.*598+27A>G) c.594+27A>G (n.594+27A>G) c.492+27A>G (n.492+27A>G) | COSMIC |
| 7 | g.33017412T>G | CA367191471 | NT5C3A | c.555+27A>C (n.555+27A>C) c.693+27A>C (n.693+27A>C) c.591+27A>C (n.591+27A>C) c.708+27A>C (n.708+27A>C) c.618A>C (p.Ter206Tyr) c.*598+27A>C (n.*598+27A>C) c.594+27A>C (n.594+27A>C) c.492+27A>C (n.492+27A>C) | |
| 7 | g.33017413T>A | CA367191477 | NT5C3A | c.555+26A>T (n.555+26A>T) c.693+26A>T (n.693+26A>T) c.591+26A>T (n.591+26A>T) c.708+26A>T (n.708+26A>T) c.617A>T (p.Ter206Leu) c.*598+26A>T (n.*598+26A>T) c.594+26A>T (n.594+26A>T) c.492+26A>T (n.492+26A>T) | |
| 7 | g.33017413T>C | CA1698575581 | NT5C3A | c.555+26A>G (n.555+26A>G) c.693+26A>G (n.693+26A>G) c.591+26A>G (n.591+26A>G) c.708+26A>G (n.708+26A>G) c.617A>G (p.Ter206=) c.*598+26A>G (n.*598+26A>G) c.594+26A>G (n.594+26A>G) c.492+26A>G (n.492+26A>G) | dbSNP gnomAD v4 |
| 7 | g.33017413T>G | CA367191478 | NT5C3A | c.555+26A>C (n.555+26A>C) c.693+26A>C (n.693+26A>C) c.591+26A>C (n.591+26A>C) c.708+26A>C (n.708+26A>C) c.617A>C (p.Ter206Ser) c.*598+26A>C (n.*598+26A>C) c.594+26A>C (n.594+26A>C) c.492+26A>C (n.492+26A>C) | gnomAD v4 |
| 7 | g.33017413T= | CA1698575580 | NT5C3A | c.555+26A= (n.555+26A=) c.693+26A= (n.693+26A=) c.591+26A= (n.591+26A=) c.708+26A= (n.708+26A=) c.617A= (p.Ter206=) c.*598+26A= (n.*598+26A=) c.594+26A= (n.594+26A=) c.492+26A= (n.492+26A=) | |
| 7 | g.33017414A>C | CA367191481 | NT5C3A | c.555+25T>G (n.555+25T>G) c.693+25T>G (n.693+25T>G) c.591+25T>G (n.591+25T>G) c.708+25T>G (n.708+25T>G) c.616T>G (p.Ter206Glu) c.*598+25T>G (n.*598+25T>G) c.594+25T>G (n.594+25T>G) c.492+25T>G (n.492+25T>G) | gnomAD v4 |
| 7 | g.33017414A>G | CA367191483 | NT5C3A | c.555+25T>C (n.555+25T>C) c.693+25T>C (n.693+25T>C) c.591+25T>C (n.591+25T>C) c.708+25T>C (n.708+25T>C) c.616T>C (p.Ter206Gln) c.*598+25T>C (n.*598+25T>C) c.594+25T>C (n.594+25T>C) c.492+25T>C (n.492+25T>C) | |
| 7 | g.33017414A>T | CA367191485 | NT5C3A | c.555+25T>A (n.555+25T>A) c.693+25T>A (n.693+25T>A) c.591+25T>A (n.591+25T>A) c.708+25T>A (n.708+25T>A) c.616T>A (p.Ter206Lys) c.*598+25T>A (n.*598+25T>A) c.594+25T>A (n.594+25T>A) c.492+25T>A (n.492+25T>A) | |
| 7 | g.33017415T>A | CA573761166 | NT5C3A | c.555+24A>T (n.555+24A>T) c.693+24A>T (n.693+24A>T) c.591+24A>T (n.591+24A>T) c.708+24A>T (n.708+24A>T) c.615A>T (p.Ser205=) c.*598+24A>T (n.*598+24A>T) c.594+24A>T (n.594+24A>T) c.492+24A>T (n.492+24A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33017415T>C | CA2545598051 | NT5C3A | c.555+24A>G (n.555+24A>G) c.693+24A>G (n.693+24A>G) c.591+24A>G (n.591+24A>G) c.708+24A>G (n.708+24A>G) c.615A>G (p.Ser205=) c.*598+24A>G (n.*598+24A>G) c.594+24A>G (n.594+24A>G) c.492+24A>G (n.492+24A>G) | gnomAD v4 |
| 7 | g.33017415T= | CA1698575582 | NT5C3A | c.555+24A= (n.555+24A=) c.693+24A= (n.693+24A=) c.591+24A= (n.591+24A=) c.708+24A= (n.708+24A=) c.615A= (p.Ser205=) c.*598+24A= (n.*598+24A=) c.594+24A= (n.594+24A=) c.492+24A= (n.492+24A=) | |
| 7 | g.33017416G>A | CA367191490 | NT5C3A | c.555+23C>T (n.555+23C>T) c.693+23C>T (n.693+23C>T) c.591+23C>T (n.591+23C>T) c.708+23C>T (n.708+23C>T) c.614C>T (p.Ser205Leu) c.*598+23C>T (n.*598+23C>T) c.594+23C>T (n.594+23C>T) c.492+23C>T (n.492+23C>T) | gnomAD v4 |
| 7 | g.33017416G>C | CA367191488 | NT5C3A | c.555+23C>G (n.555+23C>G) c.693+23C>G (n.693+23C>G) c.591+23C>G (n.591+23C>G) c.708+23C>G (n.708+23C>G) c.614C>G (p.Ser205Ter) c.*598+23C>G (n.*598+23C>G) c.594+23C>G (n.594+23C>G) c.492+23C>G (n.492+23C>G) | |
| 7 | g.33017416G>T | CA367191487 | NT5C3A | c.555+23C>A (n.555+23C>A) c.693+23C>A (n.693+23C>A) c.591+23C>A (n.591+23C>A) c.708+23C>A (n.708+23C>A) c.614C>A (p.Ser205Ter) c.*598+23C>A (n.*598+23C>A) c.594+23C>A (n.594+23C>A) c.492+23C>A (n.492+23C>A) | |
| 7 | g.33017417A>C | CA367191492 | NT5C3A | c.555+22T>G (n.555+22T>G) c.693+22T>G (n.693+22T>G) c.591+22T>G (n.591+22T>G) c.708+22T>G (n.708+22T>G) c.613T>G (p.Ser205Ala) c.*598+22T>G (n.*598+22T>G) c.594+22T>G (n.594+22T>G) c.492+22T>G (n.492+22T>G) | |
| 7 | g.33017417A>G | CA367191493 | NT5C3A | c.555+22T>C (n.555+22T>C) c.693+22T>C (n.693+22T>C) c.591+22T>C (n.591+22T>C) c.708+22T>C (n.708+22T>C) c.613T>C (p.Ser205Pro) c.*598+22T>C (n.*598+22T>C) c.594+22T>C (n.594+22T>C) c.492+22T>C (n.492+22T>C) | gnomAD v4 |
| 7 | g.33017417A>T | CA367191496 | NT5C3A | c.555+22T>A (n.555+22T>A) c.693+22T>A (n.693+22T>A) c.591+22T>A (n.591+22T>A) c.708+22T>A (n.708+22T>A) c.613T>A (p.Ser205Thr) c.*598+22T>A (n.*598+22T>A) c.594+22T>A (n.594+22T>A) c.492+22T>A (n.492+22T>A) | gnomAD v4 |
| 7 | g.33017418A>G | CA2682335940 | NT5C3A | c.555+21T>C (n.555+21T>C) c.693+21T>C (n.693+21T>C) c.591+21T>C (n.591+21T>C) c.708+21T>C (n.708+21T>C) c.612T>C (p.Ser204=) c.*598+21T>C (n.*598+21T>C) c.594+21T>C (n.594+21T>C) c.492+21T>C (n.492+21T>C) | gnomAD v4 |
| 7 | g.33017419G>A | CA367191498 | NT5C3A | c.555+20C>T (n.555+20C>T) c.693+20C>T (n.693+20C>T) c.591+20C>T (n.591+20C>T) c.708+20C>T (n.708+20C>T) c.611C>T (p.Ser204Phe) c.*598+20C>T (n.*598+20C>T) c.594+20C>T (n.594+20C>T) c.492+20C>T (n.492+20C>T) | gnomAD v4 |
| 7 | g.33017419G>C | CA367191500 | NT5C3A | c.555+20C>G (n.555+20C>G) c.693+20C>G (n.693+20C>G) c.591+20C>G (n.591+20C>G) c.708+20C>G (n.708+20C>G) c.611C>G (p.Ser204Cys) c.*598+20C>G (n.*598+20C>G) c.594+20C>G (n.594+20C>G) c.492+20C>G (n.492+20C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33017419G= | CA1698575583 | NT5C3A | c.555+20C= (n.555+20C=) c.693+20C= (n.693+20C=) c.591+20C= (n.591+20C=) c.708+20C= (n.708+20C=) c.611C= (p.Ser204=) c.*598+20C= (n.*598+20C=) c.594+20C= (n.594+20C=) c.492+20C= (n.492+20C=) | |
| 7 | g.33017419G>T | CA367191502 | NT5C3A | c.555+20C>A (n.555+20C>A) c.693+20C>A (n.693+20C>A) c.591+20C>A (n.591+20C>A) c.708+20C>A (n.708+20C>A) c.611C>A (p.Ser204Tyr) c.*598+20C>A (n.*598+20C>A) c.594+20C>A (n.594+20C>A) c.492+20C>A (n.492+20C>A) | dbSNP gnomAD v4 |
| 7 | g.33017420A>C | CA367191504 | NT5C3A | c.555+19T>G (n.555+19T>G) c.693+19T>G (n.693+19T>G) c.591+19T>G (n.591+19T>G) c.708+19T>G (n.708+19T>G) c.610T>G (p.Ser204Ala) c.*598+19T>G (n.*598+19T>G) c.594+19T>G (n.594+19T>G) c.492+19T>G (n.492+19T>G) | |
| 7 | g.33017420A>G | CA367191508 | NT5C3A | c.555+19T>C (n.555+19T>C) c.693+19T>C (n.693+19T>C) c.591+19T>C (n.591+19T>C) c.708+19T>C (n.708+19T>C) c.610T>C (p.Ser204Pro) c.*598+19T>C (n.*598+19T>C) c.594+19T>C (n.594+19T>C) c.492+19T>C (n.492+19T>C) | |
| 7 | g.33017420A>T | CA367191506 | NT5C3A | c.555+19T>A (n.555+19T>A) c.693+19T>A (n.693+19T>A) c.591+19T>A (n.591+19T>A) c.708+19T>A (n.708+19T>A) c.610T>A (p.Ser204Thr) c.*598+19T>A (n.*598+19T>A) c.594+19T>A (n.594+19T>A) c.492+19T>A (n.492+19T>A) | |
| 7 | g.33017422C>A | CA367191511 | NT5C3A | c.555+17G>T (n.555+17G>T) c.693+17G>T (n.693+17G>T) c.591+17G>T (n.591+17G>T) c.708+17G>T (n.708+17G>T) c.608G>T (p.Arg203Leu) c.*598+17G>T (n.*598+17G>T) c.594+17G>T (n.594+17G>T) c.492+17G>T (n.492+17G>T) | |
| 7 | g.33017422C= | CA1698575584 | NT5C3A | c.555+17G= (n.555+17G=) c.693+17G= (n.693+17G=) c.591+17G= (n.591+17G=) c.708+17G= (n.708+17G=) c.608G= (p.Arg203=) c.*598+17G= (n.*598+17G=) c.594+17G= (n.594+17G=) c.492+17G= (n.492+17G=) | |
| 7 | g.33017422C>G | CA367191513 | NT5C3A | c.555+17G>C (n.555+17G>C) c.693+17G>C (n.693+17G>C) c.591+17G>C (n.591+17G>C) c.708+17G>C (n.708+17G>C) c.608G>C (p.Arg203Pro) c.*598+17G>C (n.*598+17G>C) c.594+17G>C (n.594+17G>C) c.492+17G>C (n.492+17G>C) | |
| 7 | g.33017422C>T | CA4213340 | NT5C3A | c.555+17G>A (n.555+17G>A) c.693+17G>A (n.693+17G>A) c.591+17G>A (n.591+17G>A) c.708+17G>A (n.708+17G>A) c.608G>A (p.Arg203His) c.*598+17G>A (n.*598+17G>A) c.594+17G>A (n.594+17G>A) c.492+17G>A (n.492+17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.33017423G>A | CA4213341 | NT5C3A | c.555+16C>T (n.555+16C>T) c.693+16C>T (n.693+16C>T) c.591+16C>T (n.591+16C>T) c.708+16C>T (n.708+16C>T) c.607C>T (p.Arg203Cys) c.*598+16C>T (n.*598+16C>T) c.594+16C>T (n.594+16C>T) c.492+16C>T (n.492+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33017423G>C | CA367191518 | NT5C3A | c.555+16C>G (n.555+16C>G) c.693+16C>G (n.693+16C>G) c.591+16C>G (n.591+16C>G) c.708+16C>G (n.708+16C>G) c.607C>G (p.Arg203Gly) c.*598+16C>G (n.*598+16C>G) c.594+16C>G (n.594+16C>G) c.492+16C>G (n.492+16C>G) | |
| 7 | g.33017423G= | CA1698575585 | NT5C3A | c.555+16C= (n.555+16C=) c.693+16C= (n.693+16C=) c.591+16C= (n.591+16C=) c.708+16C= (n.708+16C=) c.607C= (p.Arg203=) c.*598+16C= (n.*598+16C=) c.594+16C= (n.594+16C=) c.492+16C= (n.492+16C=) | |
| 7 | g.33017423G>T | CA367191520 | NT5C3A | c.555+16C>A (n.555+16C>A) c.693+16C>A (n.693+16C>A) c.591+16C>A (n.591+16C>A) c.708+16C>A (n.708+16C>A) c.607C>A (p.Arg203Ser) c.*598+16C>A (n.*598+16C>A) c.594+16C>A (n.594+16C>A) c.492+16C>A (n.492+16C>A) | gnomAD v4 |
| 7 | g.33017424A>C | CA367191523 | NT5C3A | c.555+15T>G (n.555+15T>G) c.693+15T>G (n.693+15T>G) c.591+15T>G (n.591+15T>G) c.708+15T>G (n.708+15T>G) c.606T>G (p.Asn202Lys) c.*598+15T>G (n.*598+15T>G) c.594+15T>G (n.594+15T>G) c.492+15T>G (n.492+15T>G) | |
| 7 | g.33017424A>T | CA367191525 | NT5C3A | c.555+15T>A (n.555+15T>A) c.693+15T>A (n.693+15T>A) c.591+15T>A (n.591+15T>A) c.708+15T>A (n.708+15T>A) c.606T>A (p.Asn202Lys) c.*598+15T>A (n.*598+15T>A) c.594+15T>A (n.594+15T>A) c.492+15T>A (n.492+15T>A) | |
| 7 | g.33017425T>A | CA156257171 | NT5C3A | c.555+14A>T (n.555+14A>T) c.693+14A>T (n.693+14A>T) c.591+14A>T (n.591+14A>T) c.708+14A>T (n.708+14A>T) c.605A>T (p.Asn202Ile) c.*598+14A>T (n.*598+14A>T) c.594+14A>T (n.594+14A>T) c.492+14A>T (n.492+14A>T) | dbSNP |
| 7 | g.33017425T>C | CA367191527 | NT5C3A | c.555+14A>G (n.555+14A>G) c.693+14A>G (n.693+14A>G) c.591+14A>G (n.591+14A>G) c.708+14A>G (n.708+14A>G) c.605A>G (p.Asn202Ser) c.*598+14A>G (n.*598+14A>G) c.594+14A>G (n.594+14A>G) c.492+14A>G (n.492+14A>G) | |
| 7 | g.33017425T>G | CA367191528 | NT5C3A | c.555+14A>C (n.555+14A>C) c.693+14A>C (n.693+14A>C) c.591+14A>C (n.591+14A>C) c.708+14A>C (n.708+14A>C) c.605A>C (p.Asn202Thr) c.*598+14A>C (n.*598+14A>C) c.594+14A>C (n.594+14A>C) c.492+14A>C (n.492+14A>C) | |
| 7 | g.33017425T= | CA1698575586 | NT5C3A | c.555+14A= (n.555+14A=) c.693+14A= (n.693+14A=) c.591+14A= (n.591+14A=) c.708+14A= (n.708+14A=) c.605A= (p.Asn202=) c.*598+14A= (n.*598+14A=) c.594+14A= (n.594+14A=) c.492+14A= (n.492+14A=) | |
| 7 | g.33017426T>A | CA367191532 | NT5C3A | c.555+13A>T (n.555+13A>T) c.693+13A>T (n.693+13A>T) c.591+13A>T (n.591+13A>T) c.708+13A>T (n.708+13A>T) c.604A>T (p.Asn202Tyr) c.*598+13A>T (n.*598+13A>T) c.594+13A>T (n.594+13A>T) c.492+13A>T (n.492+13A>T) | |
| 7 | g.33017426T>C | CA367191533 | NT5C3A | c.555+13A>G (n.555+13A>G) c.693+13A>G (n.693+13A>G) c.591+13A>G (n.591+13A>G) c.708+13A>G (n.708+13A>G) c.604A>G (p.Asn202Asp) c.*598+13A>G (n.*598+13A>G) c.594+13A>G (n.594+13A>G) c.492+13A>G (n.492+13A>G) | |
| 7 | g.33017426T>G | CA367191530 | NT5C3A | c.555+13A>C (n.555+13A>C) c.693+13A>C (n.693+13A>C) c.591+13A>C (n.591+13A>C) c.708+13A>C (n.708+13A>C) c.604A>C (p.Asn202His) c.*598+13A>C (n.*598+13A>C) c.594+13A>C (n.594+13A>C) c.492+13A>C (n.492+13A>C) | |
| 7 | g.33017428G>A | CA367191542 | NT5C3A | c.555+11C>T (n.555+11C>T) c.693+11C>T (n.693+11C>T) c.591+11C>T (n.591+11C>T) c.708+11C>T (n.708+11C>T) c.602C>T (p.Ser201Leu) c.*598+11C>T (n.*598+11C>T) c.594+11C>T (n.594+11C>T) c.492+11C>T (n.492+11C>T) | COSMIC |
| 7 | g.33017428G>C | CA367191537 | NT5C3A | c.555+11C>G (n.555+11C>G) c.693+11C>G (n.693+11C>G) c.591+11C>G (n.591+11C>G) c.708+11C>G (n.708+11C>G) c.602C>G (p.Ser201Ter) c.*598+11C>G (n.*598+11C>G) c.594+11C>G (n.594+11C>G) c.492+11C>G (n.492+11C>G) | |
| 7 | g.33017428G= | CA1698575587 | NT5C3A | c.555+11C= (n.555+11C=) c.693+11C= (n.693+11C=) c.591+11C= (n.591+11C=) c.708+11C= (n.708+11C=) c.602C= (p.Ser201=) c.*598+11C= (n.*598+11C=) c.594+11C= (n.594+11C=) c.492+11C= (n.492+11C=) | |
| 7 | g.33017428G>T | CA367191539 | NT5C3A | c.555+11C>A (n.555+11C>A) c.693+11C>A (n.693+11C>A) c.591+11C>A (n.591+11C>A) c.708+11C>A (n.708+11C>A) c.602C>A (p.Ser201Ter) c.*598+11C>A (n.*598+11C>A) c.594+11C>A (n.594+11C>A) c.492+11C>A (n.492+11C>A) | dbSNP gnomAD v4 |
| 7 | g.33017429A>C | CA367191545 | NT5C3A | c.555+10T>G (n.555+10T>G) c.693+10T>G (n.693+10T>G) c.591+10T>G (n.591+10T>G) c.708+10T>G (n.708+10T>G) c.601T>G (p.Ser201Ala) c.*598+10T>G (n.*598+10T>G) c.594+10T>G (n.594+10T>G) c.492+10T>G (n.492+10T>G) | |
| 7 | g.33017429A>G | CA367191547 | NT5C3A | c.555+10T>C (n.555+10T>C) c.693+10T>C (n.693+10T>C) c.591+10T>C (n.591+10T>C) c.708+10T>C (n.708+10T>C) c.601T>C (p.Ser201Pro) c.*598+10T>C (n.*598+10T>C) c.594+10T>C (n.594+10T>C) c.492+10T>C (n.492+10T>C) | gnomAD v4 |
| 7 | g.33017429A>T | CA367191549 | NT5C3A | c.555+10T>A (n.555+10T>A) c.693+10T>A (n.693+10T>A) c.591+10T>A (n.591+10T>A) c.708+10T>A (n.708+10T>A) c.601T>A (p.Ser201Thr) c.*598+10T>A (n.*598+10T>A) c.594+10T>A (n.594+10T>A) c.492+10T>A (n.492+10T>A) | |
| 7 | g.33017430T>C | CA367191552 | NT5C3A | c.555+9A>G (n.555+9A>G) c.693+9A>G (n.693+9A>G) c.591+9A>G (n.591+9A>G) c.708+9A>G (n.708+9A>G) c.600A>G (p.Ile200Met) c.*598+9A>G (n.*598+9A>G) c.594+9A>G (n.594+9A>G) c.492+9A>G (n.492+9A>G) | |
| 7 | g.33017430T>G | CA4213342 | NT5C3A | c.555+9A>C (n.555+9A>C) c.693+9A>C (n.693+9A>C) c.591+9A>C (n.591+9A>C) c.708+9A>C (n.708+9A>C) c.600A>C (p.Ile200=) c.*598+9A>C (n.*598+9A>C) c.594+9A>C (n.594+9A>C) c.492+9A>C (n.492+9A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33017430T= | CA1698575588 | NT5C3A | c.555+9A= (n.555+9A=) c.693+9A= (n.693+9A=) c.591+9A= (n.591+9A=) c.708+9A= (n.708+9A=) c.600A= (p.Ile200=) c.*598+9A= (n.*598+9A=) c.594+9A= (n.594+9A=) c.492+9A= (n.492+9A=) | |
| 7 | g.33017431A= | CA1698575589 | NT5C3A | c.555+8T= (n.555+8T=) c.693+8T= (n.693+8T=) c.591+8T= (n.591+8T=) c.708+8T= (n.708+8T=) c.599T= (p.Ile200=) c.*598+8T= (n.*598+8T=) c.594+8T= (n.594+8T=) c.492+8T= (n.492+8T=) | |
| 7 | g.33017431A>C | CA367191556 | NT5C3A | c.555+8T>G (n.555+8T>G) c.693+8T>G (n.693+8T>G) c.591+8T>G (n.591+8T>G) c.708+8T>G (n.708+8T>G) c.599T>G (p.Ile200Arg) c.*598+8T>G (n.*598+8T>G) c.594+8T>G (n.594+8T>G) c.492+8T>G (n.492+8T>G) | dbSNP |
| 7 | g.33017431A>G | CA367191557 | NT5C3A | c.555+8T>C (n.555+8T>C) c.693+8T>C (n.693+8T>C) c.591+8T>C (n.591+8T>C) c.708+8T>C (n.708+8T>C) c.599T>C (p.Ile200Thr) c.*598+8T>C (n.*598+8T>C) c.594+8T>C (n.594+8T>C) c.492+8T>C (n.492+8T>C) | gnomAD v4 |
| 7 | g.33017431A>T | CA367191559 | NT5C3A | c.555+8T>A (n.555+8T>A) c.693+8T>A (n.693+8T>A) c.591+8T>A (n.591+8T>A) c.708+8T>A (n.708+8T>A) c.599T>A (p.Ile200Lys) c.*598+8T>A (n.*598+8T>A) c.594+8T>A (n.594+8T>A) c.492+8T>A (n.492+8T>A) | |
| 7 | g.33017432T>A | CA367191562 | NT5C3A | c.555+7A>T (n.555+7A>T) c.693+7A>T (n.693+7A>T) c.591+7A>T (n.591+7A>T) c.708+7A>T (n.708+7A>T) c.598A>T (p.Ile200Leu) c.*598+7A>T (n.*598+7A>T) c.594+7A>T (n.594+7A>T) c.492+7A>T (n.492+7A>T) | |
| 7 | g.33017432T>C | CA367191564 | NT5C3A | c.555+7A>G (n.555+7A>G) c.693+7A>G (n.693+7A>G) c.591+7A>G (n.591+7A>G) c.708+7A>G (n.708+7A>G) c.598A>G (p.Ile200Val) c.*598+7A>G (n.*598+7A>G) c.594+7A>G (n.594+7A>G) c.492+7A>G (n.492+7A>G) | |
| 7 | g.33017432T>G | CA367191566 | NT5C3A | c.555+7A>C (n.555+7A>C) c.693+7A>C (n.693+7A>C) c.591+7A>C (n.591+7A>C) c.708+7A>C (n.708+7A>C) c.598A>C (p.Ile200Leu) c.*598+7A>C (n.*598+7A>C) c.594+7A>C (n.594+7A>C) c.492+7A>C (n.492+7A>C) | |
| 7 | g.33017433T>A | CA367191570 | NT5C3A | c.555+6A>T (n.555+6A>T) c.693+6A>T (n.693+6A>T) c.591+6A>T (n.591+6A>T) c.708+6A>T (n.708+6A>T) c.597A>T (p.Arg199Ser) c.*598+6A>T (n.*598+6A>T) c.594+6A>T (n.594+6A>T) c.492+6A>T (n.492+6A>T) | |
| 7 | g.33017433T>G | CA367191568 | NT5C3A | c.555+6A>C (n.555+6A>C) c.693+6A>C (n.693+6A>C) c.591+6A>C (n.591+6A>C) c.708+6A>C (n.708+6A>C) c.597A>C (p.Arg199Ser) c.*598+6A>C (n.*598+6A>C) c.594+6A>C (n.594+6A>C) c.492+6A>C (n.492+6A>C) | |
| 7 | g.33017434C>A | CA367191573 | NT5C3A | c.555+5G>T (n.555+5G>T) c.693+5G>T (n.693+5G>T) c.591+5G>T (n.591+5G>T) c.708+5G>T (n.708+5G>T) c.596G>T (p.Arg199Ile) c.*598+5G>T (n.*598+5G>T) c.594+5G>T (n.594+5G>T) c.492+5G>T (n.492+5G>T) | |
| 7 | g.33017434C>G | CA367191574 | NT5C3A | c.555+5G>C (n.555+5G>C) c.693+5G>C (n.693+5G>C) c.591+5G>C (n.591+5G>C) c.708+5G>C (n.708+5G>C) c.596G>C (p.Arg199Thr) c.*598+5G>C (n.*598+5G>C) c.594+5G>C (n.594+5G>C) c.492+5G>C (n.492+5G>C) | |
| 7 | g.33017434C>T | CA367191575 | NT5C3A | c.555+5G>A (n.555+5G>A) c.693+5G>A (n.693+5G>A) c.591+5G>A (n.591+5G>A) c.708+5G>A (n.708+5G>A) c.596G>A (p.Arg199Lys) c.*598+5G>A (n.*598+5G>A) c.594+5G>A (n.594+5G>A) c.492+5G>A (n.492+5G>A) | gnomAD v4 |
| 7 | g.33017435T>A | CA367191578 | NT5C3A | c.555+4A>T (n.555+4A>T) c.693+4A>T (n.693+4A>T) c.591+4A>T (n.591+4A>T) c.708+4A>T (n.708+4A>T) c.595A>T (p.Arg199Ter) c.*598+4A>T (n.*598+4A>T) c.594+4A>T (n.594+4A>T) c.492+4A>T (n.492+4A>T) | |
| 7 | g.33017435T>C | CA4213343 | NT5C3A | c.555+4A>G (n.555+4A>G) c.693+4A>G (n.693+4A>G) c.591+4A>G (n.591+4A>G) c.708+4A>G (n.708+4A>G) c.595A>G (p.Arg199Gly) c.*598+4A>G (n.*598+4A>G) c.594+4A>G (n.594+4A>G) c.492+4A>G (n.492+4A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33017435T= | CA1698575590 | NT5C3A | c.555+4A= (n.555+4A=) c.693+4A= (n.693+4A=) c.591+4A= (n.591+4A=) c.708+4A= (n.708+4A=) c.595A= (p.Arg199=) c.*598+4A= (n.*598+4A=) c.594+4A= (n.594+4A=) c.492+4A= (n.492+4A=) | |
| 7 | g.33017436T>C | CA4213344 | NT5C3A | c.555+3A>G (n.555+3A>G) c.693+3A>G (n.693+3A>G) c.591+3A>G (n.591+3A>G) c.708+3A>G (n.708+3A>G) c.594A>G (p.Val198=) c.*598+3A>G (n.*598+3A>G) c.594+3A>G (n.594+3A>G) c.492+3A>G (n.492+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33017436T= | CA1698575591 | NT5C3A | c.555+3A= (n.555+3A=) c.693+3A= (n.693+3A=) c.591+3A= (n.591+3A=) c.708+3A= (n.708+3A=) c.594A= (p.Val198=) c.*598+3A= (n.*598+3A=) c.594+3A= (n.594+3A=) c.492+3A= (n.492+3A=) | |
| 7 | g.33017437A>C | CA367191583 | NT5C3A | c.555+2T>G (n.555+2T>G) c.693+2T>G (n.693+2T>G) c.591+2T>G (n.591+2T>G) c.708+2T>G (n.708+2T>G) c.593T>G (p.Val198Gly) c.*598+2T>G (n.*598+2T>G) c.594+2T>G (n.594+2T>G) c.492+2T>G (n.492+2T>G) | |
| 7 | g.33017437A>G | CA367191585 | NT5C3A | c.555+2T>C (n.555+2T>C) c.693+2T>C (n.693+2T>C) c.591+2T>C (n.591+2T>C) c.708+2T>C (n.708+2T>C) c.593T>C (p.Val198Ala) c.*598+2T>C (n.*598+2T>C) c.594+2T>C (n.594+2T>C) c.492+2T>C (n.492+2T>C) | |
| 7 | g.33017437A>T | CA367191587 | NT5C3A | c.555+2T>A (n.555+2T>A) c.693+2T>A (n.693+2T>A) c.591+2T>A (n.591+2T>A) c.708+2T>A (n.708+2T>A) c.593T>A (p.Val198Glu) c.*598+2T>A (n.*598+2T>A) c.594+2T>A (n.594+2T>A) c.492+2T>A (n.492+2T>A) | |
| 7 | g.33017438_33017439del | CA2695207569 | NT5C3A | c.555+1_555+2del c.693+1_693+2del c.591+1_591+2del c.708+1_708+2del c.592_593del (p.Val198LysfsTer19) c.*598+1_*598+2del c.594+1_594+2del c.492+1_492+2del | |
| 7 | g.33017438C>A | CA367191590 | NT5C3A | c.555+1G>T (n.555+1G>T) c.693+1G>T (n.693+1G>T) c.591+1G>T (n.591+1G>T) c.708+1G>T (n.708+1G>T) c.592G>T (p.Val198Leu) c.*598+1G>T (n.*598+1G>T) c.594+1G>T (n.594+1G>T) c.492+1G>T (n.492+1G>T) | |
| 7 | g.33017438C>G | CA367191592 | NT5C3A | c.555+1G>C (n.555+1G>C) c.693+1G>C (n.693+1G>C) c.591+1G>C (n.591+1G>C) c.708+1G>C (n.708+1G>C) c.592G>C (p.Val198Leu) c.*598+1G>C (n.*598+1G>C) c.594+1G>C (n.594+1G>C) c.492+1G>C (n.492+1G>C) | |
| 7 | g.33017438C>T | CA367191594 | NT5C3A | c.555+1G>A (n.555+1G>A) c.693+1G>A (n.693+1G>A) c.591+1G>A (n.591+1G>A) c.708+1G>A (n.708+1G>A) c.592G>A (p.Val198Ile) c.*598+1G>A (n.*598+1G>A) c.594+1G>A (n.594+1G>A) c.492+1G>A (n.492+1G>A) | ClinVar gnomAD v4 |
| 7 | g.33017439A>C | CA454342055 | NT5C3A | c.555T>G (p.Thr185=) c.693T>G (p.Thr231=) c.591T>G (p.Thr197=) c.708T>G (p.Thr236=) c.*598T>G (n.*598T>G) c.594T>G (p.Thr198=) c.492T>G (p.Thr164=) | |
| 7 | g.33017439A>G | CA454342058 | NT5C3A | c.555T>C (p.Thr185=) c.693T>C (p.Thr231=) c.591T>C (p.Thr197=) c.708T>C (p.Thr236=) c.*598T>C (n.*598T>C) c.594T>C (p.Thr198=) c.492T>C (p.Thr164=) | |
| 7 | g.33017439A>T | CA454342056 | NT5C3A | c.555T>A (p.Thr185=) c.693T>A (p.Thr231=) c.591T>A (p.Thr197=) c.708T>A (p.Thr236=) c.*598T>A (n.*598T>A) c.594T>A (p.Thr198=) c.492T>A (p.Thr164=) | |
| 7 | g.33017440G>A | CA367191597 | NT5C3A | c.554C>T (p.Thr185Ile) c.692C>T (p.Thr231Ile) c.590C>T (p.Thr197Ile) c.707C>T (p.Thr236Ile) c.*597C>T (n.*597C>T) c.593C>T (p.Thr198Ile) c.491C>T (p.Thr164Ile) | |
| 7 | g.33017440G>C | CA367191596 | NT5C3A | c.554C>G (p.Thr185Ser) c.692C>G (p.Thr231Ser) c.590C>G (p.Thr197Ser) c.707C>G (p.Thr236Ser) c.*597C>G (n.*597C>G) c.593C>G (p.Thr198Ser) c.491C>G (p.Thr164Ser) | |
| 7 | g.33017440G>T | CA367191595 | NT5C3A | c.554C>A (p.Thr185Asn) c.692C>A (p.Thr231Asn) c.590C>A (p.Thr197Asn) c.707C>A (p.Thr236Asn) c.*597C>A (n.*597C>A) c.593C>A (p.Thr198Asn) c.491C>A (p.Thr164Asn) | gnomAD v4 |
| 7 | g.33017441T>A | CA367191598 | NT5C3A | c.553A>T (p.Thr185Ser) c.691A>T (p.Thr231Ser) c.589A>T (p.Thr197Ser) c.706A>T (p.Thr236Ser) c.*596A>T (n.*596A>T) c.592A>T (p.Thr198Ser) c.490A>T (p.Thr164Ser) | |
| 7 | g.33017441T>C | CA367191599 | NT5C3A | c.553A>G (p.Thr185Ala) c.691A>G (p.Thr231Ala) c.589A>G (p.Thr197Ala) c.706A>G (p.Thr236Ala) c.*596A>G (n.*596A>G) c.592A>G (p.Thr198Ala) c.490A>G (p.Thr164Ala) | gnomAD v4 |
| 7 | g.33017441T>G | CA367191600 | NT5C3A | c.553A>C (p.Thr185Pro) c.691A>C (p.Thr231Pro) c.589A>C (p.Thr197Pro) c.706A>C (p.Thr236Pro) c.*596A>C (n.*596A>C) c.592A>C (p.Thr198Pro) c.490A>C (p.Thr164Pro) | gnomAD v4 |
| 7 | g.33017442T>A | CA367191601 | NT5C3A | c.552A>T (p.Glu184Asp) c.690A>T (p.Glu230Asp) c.588A>T (p.Glu196Asp) c.705A>T (p.Glu235Asp) c.*595A>T (n.*595A>T) c.591A>T (p.Glu197Asp) c.489A>T (p.Glu163Asp) | |
| 7 | g.33017442T>C | CA454342060 | NT5C3A | c.552A>G (p.Glu184=) c.690A>G (p.Glu230=) c.588A>G (p.Glu196=) c.705A>G (p.Glu235=) c.*595A>G (n.*595A>G) c.591A>G (p.Glu197=) c.489A>G (p.Glu163=) | gnomAD v4 |
| 7 | g.33017442T>G | CA367191602 | NT5C3A | c.552A>C (p.Glu184Asp) c.690A>C (p.Glu230Asp) c.588A>C (p.Glu196Asp) c.705A>C (p.Glu235Asp) c.*595A>C (n.*595A>C) c.591A>C (p.Glu197Asp) c.489A>C (p.Glu163Asp) | |
| 7 | g.33017443T>A | CA367191603 | NT5C3A | c.551A>T (p.Glu184Val) c.689A>T (p.Glu230Val) c.587A>T (p.Glu196Val) c.704A>T (p.Glu235Val) c.*594A>T (n.*594A>T) c.590A>T (p.Glu197Val) c.488A>T (p.Glu163Val) | gnomAD v4 |
| 7 | g.33017443T>C | CA367191604 | NT5C3A | c.551A>G (p.Glu184Gly) c.689A>G (p.Glu230Gly) c.587A>G (p.Glu196Gly) c.704A>G (p.Glu235Gly) c.*594A>G (n.*594A>G) c.590A>G (p.Glu197Gly) c.488A>G (p.Glu163Gly) | |
| 7 | g.33017443T>G | CA367191605 | NT5C3A | c.551A>C (p.Glu184Ala) c.689A>C (p.Glu230Ala) c.587A>C (p.Glu196Ala) c.704A>C (p.Glu235Ala) c.*594A>C (n.*594A>C) c.590A>C (p.Glu197Ala) c.488A>C (p.Glu163Ala) | |
| 7 | g.33017444C>A | CA367191606 | NT5C3A | c.550G>T (p.Glu184Ter) c.688G>T (p.Glu230Ter) c.586G>T (p.Glu196Ter) c.703G>T (p.Glu235Ter) c.*593G>T (n.*593G>T) c.589G>T (p.Glu197Ter) c.487G>T (p.Glu163Ter) | gnomAD v4 |
| 7 | g.33017444C>G | CA367191607 | NT5C3A | c.550G>C (p.Glu184Gln) c.688G>C (p.Glu230Gln) c.586G>C (p.Glu196Gln) c.703G>C (p.Glu235Gln) c.*593G>C (n.*593G>C) c.589G>C (p.Glu197Gln) c.487G>C (p.Glu163Gln) | |
| 7 | g.33017444C>T | CA367191608 | NT5C3A | c.550G>A (p.Glu184Lys) c.688G>A (p.Glu230Lys) c.586G>A (p.Glu196Lys) c.703G>A (p.Glu235Lys) c.*593G>A (n.*593G>A) c.589G>A (p.Glu197Lys) c.487G>A (p.Glu163Lys) | |
| 7 | g.33017445A= | CA1698575592 | NT5C3A | c.549T= (p.Asp183=) c.687T= (p.Asp229=) c.585T= (p.Asp195=) c.702T= (p.Asp234=) c.*592T= (n.*592T=) c.588T= (p.Asp196=) c.486T= (p.Asp162=) | |
| 7 | g.33017445A>C | CA367191609 | NT5C3A | c.549T>G (p.Asp183Glu) c.687T>G (p.Asp229Glu) c.585T>G (p.Asp195Glu) c.702T>G (p.Asp234Glu) c.*592T>G (n.*592T>G) c.588T>G (p.Asp196Glu) c.486T>G (p.Asp162Glu) | |
| 7 | g.33017445A>G | CA454342062 | NT5C3A | c.549T>C (p.Asp183=) c.687T>C (p.Asp229=) c.585T>C (p.Asp195=) c.702T>C (p.Asp234=) c.*592T>C (n.*592T>C) c.588T>C (p.Asp196=) c.486T>C (p.Asp162=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33017445A>T | CA367191610 | NT5C3A | c.549T>A (p.Asp183Glu) c.687T>A (p.Asp229Glu) c.585T>A (p.Asp195Glu) c.702T>A (p.Asp234Glu) c.*592T>A (n.*592T>A) c.588T>A (p.Asp196Glu) c.486T>A (p.Asp162Glu) | |
| 7 | g.33017446T>A | CA367191613 | NT5C3A | c.548A>T (p.Asp183Val) c.686A>T (p.Asp229Val) c.584A>T (p.Asp195Val) c.701A>T (p.Asp234Val) c.*591A>T (n.*591A>T) c.587A>T (p.Asp196Val) c.485A>T (p.Asp162Val) | ClinVar dbSNP |
| 7 | g.33017446T>C | CA367191611 | NT5C3A | c.548A>G (p.Asp183Gly) c.686A>G (p.Asp229Gly) c.584A>G (p.Asp195Gly) c.701A>G (p.Asp234Gly) c.*591A>G (n.*591A>G) c.587A>G (p.Asp196Gly) c.485A>G (p.Asp162Gly) | |
| 7 | g.33017446T>G | CA367191612 | NT5C3A | c.548A>C (p.Asp183Ala) c.686A>C (p.Asp229Ala) c.584A>C (p.Asp195Ala) c.701A>C (p.Asp234Ala) c.*591A>C (n.*591A>C) c.587A>C (p.Asp196Ala) c.485A>C (p.Asp162Ala) | |
| 7 | g.33017446T= | CA1698575593 | NT5C3A | c.548A= (p.Asp183=) c.686A= (p.Asp229=) c.584A= (p.Asp195=) c.701A= (p.Asp234=) c.*591A= (n.*591A=) c.587A= (p.Asp196=) c.485A= (p.Asp162=) | |
| 7 | g.33017447C>A | CA367191614 | NT5C3A | c.547G>T (p.Asp183Tyr) c.685G>T (p.Asp229Tyr) c.583G>T (p.Asp195Tyr) c.700G>T (p.Asp234Tyr) c.*590G>T (n.*590G>T) c.586G>T (p.Asp196Tyr) c.484G>T (p.Asp162Tyr) | gnomAD v4 |
| 7 | g.33017447C>G | CA367191615 | NT5C3A | c.547G>C (p.Asp183His) c.685G>C (p.Asp229His) c.583G>C (p.Asp195His) c.700G>C (p.Asp234His) c.*590G>C (n.*590G>C) c.586G>C (p.Asp196His) c.484G>C (p.Asp162His) | |
| 7 | g.33017447C>T | CA367191616 | NT5C3A | c.547G>A (p.Asp183Asn) c.685G>A (p.Asp229Asn) c.583G>A (p.Asp195Asn) c.700G>A (p.Asp234Asn) c.*590G>A (n.*590G>A) c.586G>A (p.Asp196Asn) c.484G>A (p.Asp162Asn) | COSMIC COSMIC |
| 7 | g.33017448A>C | CA367191617 | NT5C3A | c.546T>G (p.Phe182Leu) c.684T>G (p.Phe228Leu) c.582T>G (p.Phe194Leu) c.699T>G (p.Phe233Leu) c.*589T>G (n.*589T>G) c.585T>G (p.Phe195Leu) c.483T>G (p.Phe161Leu) | |
| 7 | g.33017448A>G | CA454342064 | NT5C3A | c.546T>C (p.Phe182=) c.684T>C (p.Phe228=) c.582T>C (p.Phe194=) c.699T>C (p.Phe233=) c.*589T>C (n.*589T>C) c.585T>C (p.Phe195=) c.483T>C (p.Phe161=) | |
| 7 | g.33017448A>T | CA367191618 | NT5C3A | c.546T>A (p.Phe182Leu) c.684T>A (p.Phe228Leu) c.582T>A (p.Phe194Leu) c.699T>A (p.Phe233Leu) c.*589T>A (n.*589T>A) c.585T>A (p.Phe195Leu) c.483T>A (p.Phe161Leu) | |
| 7 | g.33017451del | CA2682335941 | NT5C3A | c.546del (p.Phe182LeufsTer14) c.684del (p.Phe228LeufsTer14) c.582del (p.Phe194LeufsTer14) c.699del (p.Phe233LeufsTer14) c.582del (p.Phe194LeufsTer5) c.*589del (n.*589del) c.585del (p.Phe195LeufsTer14) c.684del (p.Phe228LeufsTer9) c.483del (p.Phe161LeufsTer14) | gnomAD v4 |
| 7 | g.33017449A= | CA1698575594 | NT5C3A | c.545T= (p.Phe182=) c.683T= (p.Phe228=) c.581T= (p.Phe194=) c.698T= (p.Phe233=) c.*588T= (n.*588T=) c.584T= (p.Phe195=) c.482T= (p.Phe161=) | |
| 7 | g.33017449A>C | CA367191619 | NT5C3A | c.545T>G (p.Phe182Cys) c.683T>G (p.Phe228Cys) c.581T>G (p.Phe194Cys) c.698T>G (p.Phe233Cys) c.*588T>G (n.*588T>G) c.584T>G (p.Phe195Cys) c.482T>G (p.Phe161Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33017449A>G | CA367191620 | NT5C3A | c.545T>C (p.Phe182Ser) c.683T>C (p.Phe228Ser) c.581T>C (p.Phe194Ser) c.698T>C (p.Phe233Ser) c.*588T>C (n.*588T>C) c.584T>C (p.Phe195Ser) c.482T>C (p.Phe161Ser) | |
| 7 | g.33017449A>T | CA367191621 | NT5C3A | c.545T>A (p.Phe182Tyr) c.683T>A (p.Phe228Tyr) c.581T>A (p.Phe194Tyr) c.698T>A (p.Phe233Tyr) c.*588T>A (n.*588T>A) c.584T>A (p.Phe195Tyr) c.482T>A (p.Phe161Tyr) | |
| 7 | g.33017450A>C | CA367191622 | NT5C3A | c.544T>G (p.Phe182Val) c.682T>G (p.Phe228Val) c.580T>G (p.Phe194Val) c.697T>G (p.Phe233Val) c.*587T>G (n.*587T>G) c.583T>G (p.Phe195Val) c.481T>G (p.Phe161Val) | gnomAD v4 |
| 7 | g.33017450A>G | CA367191623 | NT5C3A | c.544T>C (p.Phe182Leu) c.682T>C (p.Phe228Leu) c.580T>C (p.Phe194Leu) c.697T>C (p.Phe233Leu) c.*587T>C (n.*587T>C) c.583T>C (p.Phe195Leu) c.481T>C (p.Phe161Leu) | |
| 7 | g.33017450A>T | CA367191624 | NT5C3A | c.544T>A (p.Phe182Ile) c.682T>A (p.Phe228Ile) c.580T>A (p.Phe194Ile) c.697T>A (p.Phe233Ile) c.*587T>A (n.*587T>A) c.583T>A (p.Phe195Ile) c.481T>A (p.Phe161Ile) | |
| 7 | g.33017451A>C | CA367191625 | NT5C3A | c.543T>G (p.Asp181Glu) c.681T>G (p.Asp227Glu) c.579T>G (p.Asp193Glu) c.696T>G (p.Asp232Glu) c.*586T>G (n.*586T>G) c.582T>G (p.Asp194Glu) c.480T>G (p.Asp160Glu) | |
| 7 | g.33017451A>G | CA454342065 | NT5C3A | c.543T>C (p.Asp181=) c.681T>C (p.Asp227=) c.579T>C (p.Asp193=) c.696T>C (p.Asp232=) c.*586T>C (n.*586T>C) c.582T>C (p.Asp194=) c.480T>C (p.Asp160=) | |
| 7 | g.33017451A>T | CA367191626 | NT5C3A | c.543T>A (p.Asp181Glu) c.681T>A (p.Asp227Glu) c.579T>A (p.Asp193Glu) c.696T>A (p.Asp232Glu) c.*586T>A (n.*586T>A) c.582T>A (p.Asp194Glu) c.480T>A (p.Asp160Glu) | |
| 7 | g.33017452T>A | CA367191628 | NT5C3A | c.542A>T (p.Asp181Val) c.680A>T (p.Asp227Val) c.578A>T (p.Asp193Val) c.695A>T (p.Asp232Val) c.*585A>T (n.*585A>T) c.581A>T (p.Asp194Val) c.479A>T (p.Asp160Val) | |
| 7 | g.33017452T>C | CA367191629 | NT5C3A | c.542A>G (p.Asp181Gly) c.680A>G (p.Asp227Gly) c.578A>G (p.Asp193Gly) c.695A>G (p.Asp232Gly) c.*585A>G (n.*585A>G) c.581A>G (p.Asp194Gly) c.479A>G (p.Asp160Gly) | |
| 7 | g.33017452T>G | CA367191627 | NT5C3A | c.542A>C (p.Asp181Ala) c.680A>C (p.Asp227Ala) c.578A>C (p.Asp193Ala) c.695A>C (p.Asp232Ala) c.*585A>C (n.*585A>C) c.581A>C (p.Asp194Ala) c.479A>C (p.Asp160Ala) | |
| 7 | g.33017452_33017453delinsTC | CA1698575595 | NT5C3A | c.541_542delinsGA (p.Asp181=) c.679_680delinsGA (p.Asp227=) c.577_578delinsGA (p.Asp193=) c.694_695delinsGA (p.Asp232=) c.*584_*585delinsGA (n.*584_*585delinsGA) c.580_581delinsGA (p.Asp194=) c.478_479delinsGA (p.Asp160=) | |
| 7 | g.33017453C>A | CA367191631 | NT5C3A | c.541G>T (p.Asp181Tyr) c.679G>T (p.Asp227Tyr) c.577G>T (p.Asp193Tyr) c.694G>T (p.Asp232Tyr) c.*584G>T (n.*584G>T) c.580G>T (p.Asp194Tyr) c.478G>T (p.Asp160Tyr) | |
| 7 | g.33017453C= | CA1698575596 | NT5C3A | c.541G= (p.Asp181=) c.679G= (p.Asp227=) c.577G= (p.Asp193=) c.694G= (p.Asp232=) c.*584G= (n.*584G=) c.580G= (p.Asp194=) c.478G= (p.Asp160=) | |
| 7 | g.33017453C>G | CA367191630 | NT5C3A | c.541G>C (p.Asp181His) c.679G>C (p.Asp227His) c.577G>C (p.Asp193His) c.694G>C (p.Asp232His) c.*584G>C (n.*584G>C) c.580G>C (p.Asp194His) c.478G>C (p.Asp160His) | |
| 7 | g.33017453C>T | CA4213345 | NT5C3A | c.541G>A (p.Asp181Asn) c.679G>A (p.Asp227Asn) c.577G>A (p.Asp193Asn) c.694G>A (p.Asp232Asn) c.*584G>A (n.*584G>A) c.580G>A (p.Asp194Asn) c.478G>A (p.Asp160Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33017454del | CA116895 | NT5C3A | c.541del (p.Asp181IlefsTer15) c.679del (p.Asp227IlefsTer15) c.577del (p.Asp193IlefsTer15) c.694del (p.Asp232IlefsTer15) c.577del (p.Asp193IlefsTer6) c.*584del (n.*584del) c.580del (p.Asp194IlefsTer15) c.679del (p.Asp227IlefsTer10) c.478del (p.Asp160IlefsTer15) | ClinVar dbSNP |
| 7 | g.33017454C>A | CA367191634 | NT5C3A | c.540G>T (p.Met180Ile) c.678G>T (p.Met226Ile) c.576G>T (p.Met192Ile) c.693G>T (p.Met231Ile) c.*583G>T (n.*583G>T) c.579G>T (p.Met193Ile) c.477G>T (p.Met159Ile) | |
| 7 | g.33017454C>G | CA367191632 | NT5C3A | c.540G>C (p.Met180Ile) c.678G>C (p.Met226Ile) c.576G>C (p.Met192Ile) c.693G>C (p.Met231Ile) c.*583G>C (n.*583G>C) c.579G>C (p.Met193Ile) c.477G>C (p.Met159Ile) | |
| 7 | g.33017454C>T | CA367191633 | NT5C3A | c.540G>A (p.Met180Ile) c.678G>A (p.Met226Ile) c.576G>A (p.Met192Ile) c.693G>A (p.Met231Ile) c.*583G>A (n.*583G>A) c.579G>A (p.Met193Ile) c.477G>A (p.Met159Ile) | COSMIC COSMIC |
| 7 | g.33017455A>C | CA367191635 | NT5C3A | c.539T>G (p.Met180Arg) c.677T>G (p.Met226Arg) c.575T>G (p.Met192Arg) c.692T>G (p.Met231Arg) c.*582T>G (n.*582T>G) c.578T>G (p.Met193Arg) c.476T>G (p.Met159Arg) | |
| 7 | g.33017455A>G | CA367191636 | NT5C3A | c.539T>C (p.Met180Thr) c.677T>C (p.Met226Thr) c.575T>C (p.Met192Thr) c.692T>C (p.Met231Thr) c.*582T>C (n.*582T>C) c.578T>C (p.Met193Thr) c.476T>C (p.Met159Thr) | gnomAD v4 |
| 7 | g.33017455A>T | CA367191637 | NT5C3A | c.539T>A (p.Met180Lys) c.677T>A (p.Met226Lys) c.575T>A (p.Met192Lys) c.692T>A (p.Met231Lys) c.*582T>A (n.*582T>A) c.578T>A (p.Met193Lys) c.476T>A (p.Met159Lys) | |
| 7 | g.33017456T>A | CA4213346 | NT5C3A | c.538A>T (p.Met180Leu) c.676A>T (p.Met226Leu) c.574A>T (p.Met192Leu) c.691A>T (p.Met231Leu) c.*581A>T (n.*581A>T) c.577A>T (p.Met193Leu) c.475A>T (p.Met159Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33017456T>C | CA367191638 | NT5C3A | c.538A>G (p.Met180Val) c.676A>G (p.Met226Val) c.574A>G (p.Met192Val) c.691A>G (p.Met231Val) c.*581A>G (n.*581A>G) c.577A>G (p.Met193Val) c.475A>G (p.Met159Val) | |
| 7 | g.33017456T>G | CA367191639 | NT5C3A | c.538A>C (p.Met180Leu) c.676A>C (p.Met226Leu) c.574A>C (p.Met192Leu) c.691A>C (p.Met231Leu) c.*581A>C (n.*581A>C) c.577A>C (p.Met193Leu) c.475A>C (p.Met159Leu) | |
| 7 | g.33017456T= | CA1698575597 | NT5C3A | c.538A= (p.Met180=) c.676A= (p.Met226=) c.574A= (p.Met192=) c.691A= (p.Met231=) c.*581A= (n.*581A=) c.577A= (p.Met193=) c.475A= (p.Met159=) | |
| 7 | g.33017457A>C | CA367191640 | NT5C3A | c.537T>G (p.Phe179Leu) c.675T>G (p.Phe225Leu) c.573T>G (p.Phe191Leu) c.690T>G (p.Phe230Leu) c.*580T>G (n.*580T>G) c.576T>G (p.Phe192Leu) c.474T>G (p.Phe158Leu) | |
| 7 | g.33017457A>G | CA454342070 | NT5C3A | c.537T>C (p.Phe179=) c.675T>C (p.Phe225=) c.573T>C (p.Phe191=) c.690T>C (p.Phe230=) c.*580T>C (n.*580T>C) c.576T>C (p.Phe192=) c.474T>C (p.Phe158=) | |
| 7 | g.33017457A>T | CA367191641 | NT5C3A | c.537T>A (p.Phe179Leu) c.675T>A (p.Phe225Leu) c.573T>A (p.Phe191Leu) c.690T>A (p.Phe230Leu) c.*580T>A (n.*580T>A) c.576T>A (p.Phe192Leu) c.474T>A (p.Phe158Leu) | |
| 7 | g.33017458A>C | CA367191644 | NT5C3A | c.536T>G (p.Phe179Cys) c.674T>G (p.Phe225Cys) c.572T>G (p.Phe191Cys) c.689T>G (p.Phe230Cys) c.*579T>G (n.*579T>G) c.575T>G (p.Phe192Cys) c.473T>G (p.Phe158Cys) | COSMIC COSMIC |
| 7 | g.33017458A>G | CA367191642 | NT5C3A | c.536T>C (p.Phe179Ser) c.674T>C (p.Phe225Ser) c.572T>C (p.Phe191Ser) c.689T>C (p.Phe230Ser) c.*579T>C (n.*579T>C) c.575T>C (p.Phe192Ser) c.473T>C (p.Phe158Ser) | |
| 7 | g.33017458A>T | CA367191643 | NT5C3A | c.536T>A (p.Phe179Tyr) c.674T>A (p.Phe225Tyr) c.572T>A (p.Phe191Tyr) c.689T>A (p.Phe230Tyr) c.*579T>A (n.*579T>A) c.575T>A (p.Phe192Tyr) c.473T>A (p.Phe158Tyr) | |
| 7 | g.33017459A>C | CA367191645 | NT5C3A | c.535T>G (p.Phe179Val) c.673T>G (p.Phe225Val) c.571T>G (p.Phe191Val) c.688T>G (p.Phe230Val) c.*578T>G (n.*578T>G) c.574T>G (p.Phe192Val) c.472T>G (p.Phe158Val) | |
| 7 | g.33017459A>G | CA367191646 | NT5C3A | c.535T>C (p.Phe179Leu) c.673T>C (p.Phe225Leu) c.571T>C (p.Phe191Leu) c.688T>C (p.Phe230Leu) c.*578T>C (n.*578T>C) c.574T>C (p.Phe192Leu) c.472T>C (p.Phe158Leu) | |
| 7 | g.33017459A>T | CA367191647 | NT5C3A | c.535T>A (p.Phe179Ile) c.673T>A (p.Phe225Ile) c.571T>A (p.Phe191Ile) c.688T>A (p.Phe230Ile) c.*578T>A (n.*578T>A) c.574T>A (p.Phe192Ile) c.472T>A (p.Phe158Ile) | |
| 7 | g.33017460A>C | CA367191648 | NT5C3A | c.534T>G (p.Asn178Lys) c.672T>G (p.Asn224Lys) c.570T>G (p.Asn190Lys) c.687T>G (p.Asn229Lys) c.*577T>G (n.*577T>G) c.573T>G (p.Asn191Lys) c.471T>G (p.Asn157Lys) | |
| 7 | g.33017460A>G | CA454342073 | NT5C3A | c.534T>C (p.Asn178=) c.672T>C (p.Asn224=) c.570T>C (p.Asn190=) c.687T>C (p.Asn229=) c.*577T>C (n.*577T>C) c.573T>C (p.Asn191=) c.471T>C (p.Asn157=) | |
| 7 | g.33017460A>T | CA367191649 | NT5C3A | c.534T>A (p.Asn178Lys) c.672T>A (p.Asn224Lys) c.570T>A (p.Asn190Lys) c.687T>A (p.Asn229Lys) c.*577T>A (n.*577T>A) c.573T>A (p.Asn191Lys) c.471T>A (p.Asn157Lys) | |
| 7 | g.33017461T>A | CA367191650 | NT5C3A | c.533A>T (p.Asn178Ile) c.671A>T (p.Asn224Ile) c.569A>T (p.Asn190Ile) c.686A>T (p.Asn229Ile) c.*576A>T (n.*576A>T) c.572A>T (p.Asn191Ile) c.470A>T (p.Asn157Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33017461T>C | CA116893 | NT5C3A | c.533A>G (p.Asn178Ser) c.671A>G (p.Asn224Ser) c.569A>G (p.Asn190Ser) c.686A>G (p.Asn229Ser) c.*576A>G (n.*576A>G) c.572A>G (p.Asn191Ser) c.470A>G (p.Asn157Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33017461T>G | CA367191651 | NT5C3A | c.533A>C (p.Asn178Thr) c.671A>C (p.Asn224Thr) c.569A>C (p.Asn190Thr) c.686A>C (p.Asn229Thr) c.*576A>C (n.*576A>C) c.572A>C (p.Asn191Thr) c.470A>C (p.Asn157Thr) | |
| 7 | g.33017461T= | CA1698575598 | NT5C3A | c.533A= (p.Asn178=) c.671A= (p.Asn224=) c.569A= (p.Asn190=) c.686A= (p.Asn229=) c.*576A= (n.*576A=) c.572A= (p.Asn191=) c.470A= (p.Asn157=) | |
| 7 | g.33017462T>A | CA367191652 | NT5C3A | c.532A>T (p.Asn178Tyr) c.670A>T (p.Asn224Tyr) c.568A>T (p.Asn190Tyr) c.685A>T (p.Asn229Tyr) c.*575A>T (n.*575A>T) c.571A>T (p.Asn191Tyr) c.469A>T (p.Asn157Tyr) | |
| 7 | g.33017462T>C | CA367191653 | NT5C3A | c.532A>G (p.Asn178Asp) c.670A>G (p.Asn224Asp) c.568A>G (p.Asn190Asp) c.685A>G (p.Asn229Asp) c.*575A>G (n.*575A>G) c.571A>G (p.Asn191Asp) c.469A>G (p.Asn157Asp) | |
| 7 | g.33017462T>G | CA367191654 | NT5C3A | c.532A>C (p.Asn178His) c.670A>C (p.Asn224His) c.568A>C (p.Asn190His) c.685A>C (p.Asn229His) c.*575A>C (n.*575A>C) c.571A>C (p.Asn191His) c.469A>C (p.Asn157His) | ClinVar dbSNP gnomAD v4 |
| 7 | g.33017463G>A | CA454342076 | NT5C3A | c.531C>T (p.Ser177=) c.669C>T (p.Ser223=) c.567C>T (p.Ser189=) c.684C>T (p.Ser228=) c.*574C>T (n.*574C>T) c.570C>T (p.Ser190=) c.468C>T (p.Ser156=) | |
| 7 | g.33017463G>C | CA454342078 | NT5C3A | c.531C>G (p.Ser177=) c.669C>G (p.Ser223=) c.567C>G (p.Ser189=) c.684C>G (p.Ser228=) c.*574C>G (n.*574C>G) c.570C>G (p.Ser190=) c.468C>G (p.Ser156=) | |
| 7 | g.33017463G= | CA1698575599 | NT5C3A | c.531C= (p.Ser177=) c.669C= (p.Ser223=) c.567C= (p.Ser189=) c.684C= (p.Ser228=) c.*574C= (n.*574C=) c.570C= (p.Ser190=) c.468C= (p.Ser156=) | |
| 7 | g.33017463G>T | CA454342079 | NT5C3A | c.531C>A (p.Ser177=) c.669C>A (p.Ser223=) c.567C>A (p.Ser189=) c.684C>A (p.Ser228=) c.*574C>A (n.*574C>A) c.570C>A (p.Ser190=) c.468C>A (p.Ser156=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33017464G>A | CA367191656 | NT5C3A | c.530C>T (p.Ser177Phe) c.668C>T (p.Ser223Phe) c.566C>T (p.Ser189Phe) c.683C>T (p.Ser228Phe) c.*573C>T (n.*573C>T) c.569C>T (p.Ser190Phe) c.467C>T (p.Ser156Phe) | |
| 7 | g.33017464G>C | CA367191657 | NT5C3A | c.530C>G (p.Ser177Cys) c.668C>G (p.Ser223Cys) c.566C>G (p.Ser189Cys) c.683C>G (p.Ser228Cys) c.*573C>G (n.*573C>G) c.569C>G (p.Ser190Cys) c.467C>G (p.Ser156Cys) | |
| 7 | g.33017464G>T | CA367191655 | NT5C3A | c.530C>A (p.Ser177Tyr) c.668C>A (p.Ser223Tyr) c.566C>A (p.Ser189Tyr) c.683C>A (p.Ser228Tyr) c.*573C>A (n.*573C>A) c.569C>A (p.Ser190Tyr) c.467C>A (p.Ser156Tyr) | |
| 7 | g.33017465A= | CA1698575600 | NT5C3A | c.529T= (p.Ser177=) c.667T= (p.Ser223=) c.565T= (p.Ser189=) c.682T= (p.Ser228=) c.*572T= (n.*572T=) c.568T= (p.Ser190=) c.466T= (p.Ser156=) | |
| 7 | g.33017465A>C | CA367191658 | NT5C3A | c.529T>G (p.Ser177Ala) c.667T>G (p.Ser223Ala) c.565T>G (p.Ser189Ala) c.682T>G (p.Ser228Ala) c.*572T>G (n.*572T>G) c.568T>G (p.Ser190Ala) c.466T>G (p.Ser156Ala) | |
| 7 | g.33017465A>G | CA367191659 | NT5C3A | c.529T>C (p.Ser177Pro) c.667T>C (p.Ser223Pro) c.565T>C (p.Ser189Pro) c.682T>C (p.Ser228Pro) c.*572T>C (n.*572T>C) c.568T>C (p.Ser190Pro) c.466T>C (p.Ser156Pro) | dbSNP |
| 7 | g.33017465A>T | CA367191660 | NT5C3A | c.529T>A (p.Ser177Thr) c.667T>A (p.Ser223Thr) c.565T>A (p.Ser189Thr) c.682T>A (p.Ser228Thr) c.*572T>A (n.*572T>A) c.568T>A (p.Ser190Thr) c.466T>A (p.Ser156Thr) | dbSNP |
| 7 | g.33017466C>A | CA454342081 | NT5C3A | c.528G>T (p.Val176=) c.666G>T (p.Val222=) c.564G>T (p.Val188=) c.681G>T (p.Val227=) c.*571G>T (n.*571G>T) c.567G>T (p.Val189=) c.465G>T (p.Val155=) | |
| 7 | g.33017466C>G | CA454342082 | NT5C3A | c.528G>C (p.Val176=) c.666G>C (p.Val222=) c.564G>C (p.Val188=) c.681G>C (p.Val227=) c.*571G>C (n.*571G>C) c.567G>C (p.Val189=) c.465G>C (p.Val155=) | |
| 7 | g.33017466C>T | CA454342083 | NT5C3A | c.528G>A (p.Val176=) c.666G>A (p.Val222=) c.564G>A (p.Val188=) c.681G>A (p.Val227=) c.*571G>A (n.*571G>A) c.567G>A (p.Val189=) c.465G>A (p.Val155=) | |
| 7 | g.33017467A>C | CA367191661 | NT5C3A | c.527T>G (p.Val176Gly) c.665T>G (p.Val222Gly) c.563T>G (p.Val188Gly) c.680T>G (p.Val227Gly) c.*570T>G (n.*570T>G) c.566T>G (p.Val189Gly) c.464T>G (p.Val155Gly) | |
| 7 | g.33017467A>G | CA367191662 | NT5C3A | c.527T>C (p.Val176Ala) c.665T>C (p.Val222Ala) c.563T>C (p.Val188Ala) c.680T>C (p.Val227Ala) c.*570T>C (n.*570T>C) c.566T>C (p.Val189Ala) c.464T>C (p.Val155Ala) | |
| 7 | g.33017467A>T | CA367191663 | NT5C3A | c.527T>A (p.Val176Glu) c.665T>A (p.Val222Glu) c.563T>A (p.Val188Glu) c.680T>A (p.Val227Glu) c.*570T>A (n.*570T>A) c.566T>A (p.Val189Glu) c.464T>A (p.Val155Glu) | |
| 7 | g.33017468C>A | CA367191664 | NT5C3A | c.526G>T (p.Val176Leu) c.664G>T (p.Val222Leu) c.562G>T (p.Val188Leu) c.679G>T (p.Val227Leu) c.*569G>T (n.*569G>T) c.565G>T (p.Val189Leu) c.463G>T (p.Val155Leu) | |
| 7 | g.33017468C= | CA1698575601 | NT5C3A | c.526G= (p.Val176=) c.664G= (p.Val222=) c.562G= (p.Val188=) c.679G= (p.Val227=) c.*569G= (n.*569G=) c.565G= (p.Val189=) c.463G= (p.Val155=) | |
| 7 | g.33017468C>G | CA367191665 | NT5C3A | c.526G>C (p.Val176Leu) c.664G>C (p.Val222Leu) c.562G>C (p.Val188Leu) c.679G>C (p.Val227Leu) c.*569G>C (n.*569G>C) c.565G>C (p.Val189Leu) c.463G>C (p.Val155Leu) | |
| 7 | g.33017468C>T | CA367191666 | NT5C3A | c.526G>A (p.Val176Met) c.664G>A (p.Val222Met) c.562G>A (p.Val188Met) c.679G>A (p.Val227Met) c.*569G>A (n.*569G>A) c.565G>A (p.Val189Met) c.463G>A (p.Val155Met) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33017469A>C | CA454342084 | NT5C3A | c.525T>G (p.Val175=) c.663T>G (p.Val221=) c.561T>G (p.Val187=) c.678T>G (p.Val226=) c.*568T>G (n.*568T>G) c.564T>G (p.Val188=) c.462T>G (p.Val154=) | |
| 7 | g.33017469A>G | CA454342086 | NT5C3A | c.525T>C (p.Val175=) c.663T>C (p.Val221=) c.561T>C (p.Val187=) c.678T>C (p.Val226=) c.*568T>C (n.*568T>C) c.564T>C (p.Val188=) c.462T>C (p.Val154=) | |
| 7 | g.33017469A>T | CA454342085 | NT5C3A | c.525T>A (p.Val175=) c.663T>A (p.Val221=) c.561T>A (p.Val187=) c.678T>A (p.Val226=) c.*568T>A (n.*568T>A) c.564T>A (p.Val188=) c.462T>A (p.Val154=) | |
| 7 | g.33017470A= | CA1698575602 | NT5C3A | c.524T= (p.Val175=) c.662T= (p.Val221=) c.560T= (p.Val187=) c.677T= (p.Val226=) c.*567T= (n.*567T=) c.563T= (p.Val188=) c.461T= (p.Val154=) | |
| 7 | g.33017470A>C | CA367191667 | NT5C3A | c.524T>G (p.Val175Gly) c.662T>G (p.Val221Gly) c.560T>G (p.Val187Gly) c.677T>G (p.Val226Gly) c.*567T>G (n.*567T>G) c.563T>G (p.Val188Gly) c.461T>G (p.Val154Gly) | |
| 7 | g.33017470A>G | CA367191668 | NT5C3A | c.524T>C (p.Val175Ala) c.662T>C (p.Val221Ala) c.560T>C (p.Val187Ala) c.677T>C (p.Val226Ala) c.*567T>C (n.*567T>C) c.563T>C (p.Val188Ala) c.461T>C (p.Val154Ala) | gnomAD v4 |
| 7 | g.33017470A>T | CA367191669 | NT5C3A | c.524T>A (p.Val175Asp) c.662T>A (p.Val221Asp) c.560T>A (p.Val187Asp) c.677T>A (p.Val226Asp) c.*567T>A (n.*567T>A) c.563T>A (p.Val188Asp) c.461T>A (p.Val154Asp) | dbSNP |
| 7 | g.33017471C>A | CA367191671 | NT5C3A | c.523G>T (p.Val175Phe) c.661G>T (p.Val221Phe) c.559G>T (p.Val187Phe) c.676G>T (p.Val226Phe) c.*566G>T (n.*566G>T) c.562G>T (p.Val188Phe) c.460G>T (p.Val154Phe) | |
| 7 | g.33017471C= | CA1698575603 | NT5C3A | c.523G= (p.Val175=) c.661G= (p.Val221=) c.559G= (p.Val187=) c.676G= (p.Val226=) c.*566G= (n.*566G=) c.562G= (p.Val188=) c.460G= (p.Val154=) | |
| 7 | g.33017471C>G | CA367191672 | NT5C3A | c.523G>C (p.Val175Leu) c.661G>C (p.Val221Leu) c.559G>C (p.Val187Leu) c.676G>C (p.Val226Leu) c.*566G>C (n.*566G>C) c.562G>C (p.Val188Leu) c.460G>C (p.Val154Leu) | |
| 7 | g.33017471C>T | CA367191670 | NT5C3A | c.523G>A (p.Val175Ile) c.661G>A (p.Val221Ile) c.559G>A (p.Val187Ile) c.676G>A (p.Val226Ile) c.*566G>A (n.*566G>A) c.562G>A (p.Val188Ile) c.460G>A (p.Val154Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33017472T>A | CA367191673 | NT5C3A | c.522A>T (p.Lys174Asn) c.660A>T (p.Lys220Asn) c.558A>T (p.Lys186Asn) c.675A>T (p.Lys225Asn) c.*565A>T (n.*565A>T) c.561A>T (p.Lys187Asn) c.459A>T (p.Lys153Asn) | |
| 7 | g.33017472T>C | CA454342088 | NT5C3A | c.522A>G (p.Lys174=) c.660A>G (p.Lys220=) c.558A>G (p.Lys186=) c.675A>G (p.Lys225=) c.*565A>G (n.*565A>G) c.561A>G (p.Lys187=) c.459A>G (p.Lys153=) | |
| 7 | g.33017472T>G | CA367191674 | NT5C3A | c.522A>C (p.Lys174Asn) c.660A>C (p.Lys220Asn) c.558A>C (p.Lys186Asn) c.675A>C (p.Lys225Asn) c.*565A>C (n.*565A>C) c.561A>C (p.Lys187Asn) c.459A>C (p.Lys153Asn) | |
| 7 | g.33017474dup | CA2578864022 | NT5C3A | c.522dup (p.Val175SerfsTer9) c.660dup (p.Val221SerfsTer9) c.558dup (p.Val187SerfsTer9) c.675dup (p.Val226SerfsTer9) c.*565dup (n.*565dup) c.561dup (p.Val188SerfsTer9) c.459dup (p.Val154SerfsTer9) | gnomAD v4 |
| 7 | g.33017473T>A | CA367191675 | NT5C3A | c.521A>T (p.Lys174Ile) c.659A>T (p.Lys220Ile) c.557A>T (p.Lys186Ile) c.674A>T (p.Lys225Ile) c.*564A>T (n.*564A>T) c.560A>T (p.Lys187Ile) c.458A>T (p.Lys153Ile) | |
| 7 | g.33017473T>C | CA367191676 | NT5C3A | c.521A>G (p.Lys174Arg) c.659A>G (p.Lys220Arg) c.557A>G (p.Lys186Arg) c.674A>G (p.Lys225Arg) c.*564A>G (n.*564A>G) c.560A>G (p.Lys187Arg) c.458A>G (p.Lys153Arg) | |
| 7 | g.33017473T>G | CA367191677 | NT5C3A | c.521A>C (p.Lys174Thr) c.659A>C (p.Lys220Thr) c.557A>C (p.Lys186Thr) c.674A>C (p.Lys225Thr) c.*564A>C (n.*564A>C) c.560A>C (p.Lys187Thr) c.458A>C (p.Lys153Thr) | |
| 7 | g.33017474T>A | CA367191680 | NT5C3A | c.520A>T (p.Lys174Ter) c.658A>T (p.Lys220Ter) c.556A>T (p.Lys186Ter) c.673A>T (p.Lys225Ter) c.*563A>T (n.*563A>T) c.559A>T (p.Lys187Ter) c.457A>T (p.Lys153Ter) | |
| 7 | g.33017474T>C | CA367191678 | NT5C3A | c.520A>G (p.Lys174Glu) c.658A>G (p.Lys220Glu) c.556A>G (p.Lys186Glu) c.673A>G (p.Lys225Glu) c.*563A>G (n.*563A>G) c.559A>G (p.Lys187Glu) c.457A>G (p.Lys153Glu) | |
| 7 | g.33017474T>G | CA367191679 | NT5C3A | c.520A>C (p.Lys174Gln) c.658A>C (p.Lys220Gln) c.556A>C (p.Lys186Gln) c.673A>C (p.Lys225Gln) c.*563A>C (n.*563A>C) c.559A>C (p.Lys187Gln) c.457A>C (p.Lys153Gln) | |
| 7 | g.33017475G>A | CA454342091 | NT5C3A | c.519C>T (p.Val173=) c.657C>T (p.Val219=) c.555C>T (p.Val185=) c.672C>T (p.Val224=) c.*562C>T (n.*562C>T) c.558C>T (p.Val186=) c.456C>T (p.Val152=) | |
| 7 | g.33017475G>C | CA454342092 | NT5C3A | c.519C>G (p.Val173=) c.657C>G (p.Val219=) c.555C>G (p.Val185=) c.672C>G (p.Val224=) c.*562C>G (n.*562C>G) c.558C>G (p.Val186=) c.456C>G (p.Val152=) | |
| 7 | g.33017475G>T | CA454342093 | NT5C3A | c.519C>A (p.Val173=) c.657C>A (p.Val219=) c.555C>A (p.Val185=) c.672C>A (p.Val224=) c.*562C>A (n.*562C>A) c.558C>A (p.Val186=) c.456C>A (p.Val152=) | |
| 7 | g.33017476A>C | CA367191681 | NT5C3A | c.518T>G (p.Val173Gly) c.656T>G (p.Val219Gly) c.554T>G (p.Val185Gly) c.671T>G (p.Val224Gly) c.*561T>G (n.*561T>G) c.557T>G (p.Val186Gly) c.455T>G (p.Val152Gly) | |
| 7 | g.33017476A>G | CA367191682 | NT5C3A | c.518T>C (p.Val173Ala) c.656T>C (p.Val219Ala) c.554T>C (p.Val185Ala) c.671T>C (p.Val224Ala) c.*561T>C (n.*561T>C) c.557T>C (p.Val186Ala) c.455T>C (p.Val152Ala) | |
| 7 | g.33017476A>T | CA367191683 | NT5C3A | c.518T>A (p.Val173Asp) c.656T>A (p.Val219Asp) c.554T>A (p.Val185Asp) c.671T>A (p.Val224Asp) c.*561T>A (n.*561T>A) c.557T>A (p.Val186Asp) c.455T>A (p.Val152Asp) | |
| 7 | g.33017477C>A | CA367191684 | NT5C3A | c.517G>T (p.Val173Phe) c.655G>T (p.Val219Phe) c.553G>T (p.Val185Phe) c.670G>T (p.Val224Phe) c.*560G>T (n.*560G>T) c.556G>T (p.Val186Phe) c.454G>T (p.Val152Phe) | |
| 7 | g.33017477C= | CA1698575604 | NT5C3A | c.517G= (p.Val173=) c.655G= (p.Val219=) c.553G= (p.Val185=) c.670G= (p.Val224=) c.*560G= (n.*560G=) c.556G= (p.Val186=) c.454G= (p.Val152=) | |
| 7 | g.33017477C>G | CA367191685 | NT5C3A | c.517G>C (p.Val173Leu) c.655G>C (p.Val219Leu) c.553G>C (p.Val185Leu) c.670G>C (p.Val224Leu) c.*560G>C (n.*560G>C) c.556G>C (p.Val186Leu) c.454G>C (p.Val152Leu) | |
| 7 | g.33017477C>T | CA4213347 | NT5C3A | c.517G>A (p.Val173Ile) c.655G>A (p.Val219Ile) c.553G>A (p.Val185Ile) c.670G>A (p.Val224Ile) c.*560G>A (n.*560G>A) c.556G>A (p.Val186Ile) c.454G>A (p.Val152Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33017478A= | CA1698575605 | NT5C3A | c.516T= (p.Asn172=) c.654T= (p.Asn218=) c.552T= (p.Asn184=) c.669T= (p.Asn223=) c.*559T= (n.*559T=) c.555T= (p.Asn185=) c.453T= (p.Asn151=) | |
| 7 | g.33017478A>C | CA367191687 | NT5C3A | c.516T>G (p.Asn172Lys) c.654T>G (p.Asn218Lys) c.552T>G (p.Asn184Lys) c.669T>G (p.Asn223Lys) c.*559T>G (n.*559T>G) c.555T>G (p.Asn185Lys) c.453T>G (p.Asn151Lys) | |
| 7 | g.33017478A>G | CA454342096 | NT5C3A | c.516T>C (p.Asn172=) c.654T>C (p.Asn218=) c.552T>C (p.Asn184=) c.669T>C (p.Asn223=) c.*559T>C (n.*559T>C) c.555T>C (p.Asn185=) c.453T>C (p.Asn151=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33017478A>T | CA367191686 | NT5C3A | c.516T>A (p.Asn172Lys) c.654T>A (p.Asn218Lys) c.552T>A (p.Asn184Lys) c.669T>A (p.Asn223Lys) c.*559T>A (n.*559T>A) c.555T>A (p.Asn185Lys) c.453T>A (p.Asn151Lys) | |
| 7 | g.33017479T>A | CA367191688 | NT5C3A | c.515A>T (p.Asn172Ile) c.653A>T (p.Asn218Ile) c.551A>T (p.Asn184Ile) c.668A>T (p.Asn223Ile) c.*558A>T (n.*558A>T) c.554A>T (p.Asn185Ile) c.452A>T (p.Asn151Ile) | gnomAD v4 |
| 7 | g.33017479T>C | CA4213348 | NT5C3A | c.515A>G (p.Asn172Ser) c.653A>G (p.Asn218Ser) c.551A>G (p.Asn184Ser) c.668A>G (p.Asn223Ser) c.*558A>G (n.*558A>G) c.554A>G (p.Asn185Ser) c.452A>G (p.Asn151Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33017479T>G | CA367191689 | NT5C3A | c.515A>C (p.Asn172Thr) c.653A>C (p.Asn218Thr) c.551A>C (p.Asn184Thr) c.668A>C (p.Asn223Thr) c.*558A>C (n.*558A>C) c.554A>C (p.Asn185Thr) c.452A>C (p.Asn151Thr) | |
| 7 | g.33017479T= | CA1698575606 | NT5C3A | c.515A= (p.Asn172=) c.653A= (p.Asn218=) c.551A= (p.Asn184=) c.668A= (p.Asn223=) c.*558A= (n.*558A=) c.554A= (p.Asn185=) c.452A= (p.Asn151=) | |
| 7 | g.33017480T>A | CA367191690 | NT5C3A | c.514A>T (p.Asn172Tyr) c.652A>T (p.Asn218Tyr) c.550A>T (p.Asn184Tyr) c.667A>T (p.Asn223Tyr) c.*557A>T (n.*557A>T) c.553A>T (p.Asn185Tyr) c.451A>T (p.Asn151Tyr) | |
| 7 | g.33017480T>C | CA367191691 | NT5C3A | c.514A>G (p.Asn172Asp) c.652A>G (p.Asn218Asp) c.550A>G (p.Asn184Asp) c.667A>G (p.Asn223Asp) c.*557A>G (n.*557A>G) c.553A>G (p.Asn185Asp) c.451A>G (p.Asn151Asp) | |
| 7 | g.33017480T>G | CA367191692 | NT5C3A | c.514A>C (p.Asn172His) c.652A>C (p.Asn218His) c.550A>C (p.Asn184His) c.667A>C (p.Asn223His) c.*557A>C (n.*557A>C) c.553A>C (p.Asn185His) c.451A>C (p.Asn151His) | |
| 7 | g.33017481G>A | CA454342100 | NT5C3A | c.513C>T (p.Pro171=) c.651C>T (p.Pro217=) c.549C>T (p.Pro183=) c.666C>T (p.Pro222=) c.*556C>T (n.*556C>T) c.552C>T (p.Pro184=) c.450C>T (p.Pro150=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33017481G>C | CA454342102 | NT5C3A | c.513C>G (p.Pro171=) c.651C>G (p.Pro217=) c.549C>G (p.Pro183=) c.666C>G (p.Pro222=) c.*556C>G (n.*556C>G) c.552C>G (p.Pro184=) c.450C>G (p.Pro150=) | |
| 7 | g.33017481G= | CA1698575607 | NT5C3A | c.513C= (p.Pro171=) c.651C= (p.Pro217=) c.549C= (p.Pro183=) c.666C= (p.Pro222=) c.*556C= (n.*556C=) c.552C= (p.Pro184=) c.450C= (p.Pro150=) | |
| 7 | g.33017481G>T | CA454342101 | NT5C3A | c.513C>A (p.Pro171=) c.651C>A (p.Pro217=) c.549C>A (p.Pro183=) c.666C>A (p.Pro222=) c.*556C>A (n.*556C>A) c.552C>A (p.Pro184=) c.450C>A (p.Pro150=) | |
| 7 | g.33017482G>A | CA367191693 | NT5C3A | c.512C>T (p.Pro171Leu) c.650C>T (p.Pro217Leu) c.548C>T (p.Pro183Leu) c.665C>T (p.Pro222Leu) c.*555C>T (n.*555C>T) c.551C>T (p.Pro184Leu) c.449C>T (p.Pro150Leu) | |
| 7 | g.33017482G>C | CA367191694 | NT5C3A | c.512C>G (p.Pro171Arg) c.650C>G (p.Pro217Arg) c.548C>G (p.Pro183Arg) c.665C>G (p.Pro222Arg) c.*555C>G (n.*555C>G) c.551C>G (p.Pro184Arg) c.449C>G (p.Pro150Arg) | |
| 7 | g.33017482G>T | CA367191695 | NT5C3A | c.512C>A (p.Pro171His) c.650C>A (p.Pro217His) c.548C>A (p.Pro183His) c.665C>A (p.Pro222His) c.*555C>A (n.*555C>A) c.551C>A (p.Pro184His) c.449C>A (p.Pro150His) | |
| 7 | g.33017483G>A | CA367191696 | NT5C3A | c.511C>T (p.Pro171Ser) c.649C>T (p.Pro217Ser) c.547C>T (p.Pro183Ser) c.664C>T (p.Pro222Ser) c.*554C>T (n.*554C>T) c.550C>T (p.Pro184Ser) c.448C>T (p.Pro150Ser) | |
| 7 | g.33017483G>C | CA367191697 | NT5C3A | c.511C>G (p.Pro171Ala) c.649C>G (p.Pro217Ala) c.547C>G (p.Pro183Ala) c.664C>G (p.Pro222Ala) c.*554C>G (n.*554C>G) c.550C>G (p.Pro184Ala) c.448C>G (p.Pro150Ala) | |
| 7 | g.33017483G>T | CA367191698 | NT5C3A | c.511C>A (p.Pro171Thr) c.649C>A (p.Pro217Thr) c.547C>A (p.Pro183Thr) c.664C>A (p.Pro222Thr) c.*554C>A (n.*554C>A) c.550C>A (p.Pro184Thr) c.448C>A (p.Pro150Thr) | |
| 7 | g.33017484A>C | CA367191699 | NT5C3A | c.510T>G (p.His170Gln) c.648T>G (p.His216Gln) c.546T>G (p.His182Gln) c.663T>G (p.His221Gln) c.*553T>G (n.*553T>G) c.549T>G (p.His183Gln) c.447T>G (p.His149Gln) | |
| 7 | g.33017484A>G | CA454342103 | NT5C3A | c.510T>C (p.His170=) c.648T>C (p.His216=) c.546T>C (p.His182=) c.663T>C (p.His221=) c.*553T>C (n.*553T>C) c.549T>C (p.His183=) c.447T>C (p.His149=) | |
| 7 | g.33017484A>T | CA367191700 | NT5C3A | c.510T>A (p.His170Gln) c.648T>A (p.His216Gln) c.546T>A (p.His182Gln) c.663T>A (p.His221Gln) c.*553T>A (n.*553T>A) c.549T>A (p.His183Gln) c.447T>A (p.His149Gln) | |
| 7 | g.33017485T>A | CA367191703 | NT5C3A | c.509A>T (p.His170Leu) c.647A>T (p.His216Leu) c.545A>T (p.His182Leu) c.662A>T (p.His221Leu) c.*552A>T (n.*552A>T) c.548A>T (p.His183Leu) c.446A>T (p.His149Leu) | |
| 7 | g.33017485T>C | CA367191702 | NT5C3A | c.509A>G (p.His170Arg) c.647A>G (p.His216Arg) c.545A>G (p.His182Arg) c.662A>G (p.His221Arg) c.*552A>G (n.*552A>G) c.548A>G (p.His183Arg) c.446A>G (p.His149Arg) | |
| 7 | g.33017485T>G | CA367191701 | NT5C3A | c.509A>C (p.His170Pro) c.647A>C (p.His216Pro) c.545A>C (p.His182Pro) c.662A>C (p.His221Pro) c.*552A>C (n.*552A>C) c.548A>C (p.His183Pro) c.446A>C (p.His149Pro) | |
| 7 | g.33017486G>A | CA367191704 | NT5C3A | c.508C>T (p.His170Tyr) c.646C>T (p.His216Tyr) c.544C>T (p.His182Tyr) c.661C>T (p.His221Tyr) c.*551C>T (n.*551C>T) c.547C>T (p.His183Tyr) c.445C>T (p.His149Tyr) | |
| 7 | g.33017486G>C | CA367191705 | NT5C3A | c.508C>G (p.His170Asp) c.646C>G (p.His216Asp) c.544C>G (p.His182Asp) c.661C>G (p.His221Asp) c.*551C>G (n.*551C>G) c.547C>G (p.His183Asp) c.445C>G (p.His149Asp) | |
| 7 | g.33017486G= | CA1698575608 | NT5C3A | c.508C= (p.His170=) c.646C= (p.His216=) c.544C= (p.His182=) c.661C= (p.His221=) c.*551C= (n.*551C=) c.547C= (p.His183=) c.445C= (p.His149=) | |
| 7 | g.33017486G>T | CA367191706 | NT5C3A | c.508C>A (p.His170Asn) c.646C>A (p.His216Asn) c.544C>A (p.His182Asn) c.661C>A (p.His221Asn) c.*551C>A (n.*551C>A) c.547C>A (p.His183Asn) c.445C>A (p.His149Asn) | dbSNP gnomAD v4 |
| 7 | g.33017487A= | CA1698575609 | NT5C3A | c.507T= (p.Tyr169=) c.645T= (p.Tyr215=) c.543T= (p.Tyr181=) c.660T= (p.Tyr220=) c.*550T= (n.*550T=) c.546T= (p.Tyr182=) c.444T= (p.Tyr148=) | |
| 7 | g.33017487A>C | CA116888 | NT5C3A | c.507T>G (p.Tyr169Ter) c.645T>G (p.Tyr215Ter) c.543T>G (p.Tyr181Ter) c.660T>G (p.Tyr220Ter) c.*550T>G (n.*550T>G) c.546T>G (p.Tyr182Ter) c.444T>G (p.Tyr148Ter) | ClinVar dbSNP |
| 7 | g.33017487A>G | CA454342105 | NT5C3A | c.507T>C (p.Tyr169=) c.645T>C (p.Tyr215=) c.543T>C (p.Tyr181=) c.660T>C (p.Tyr220=) c.*550T>C (n.*550T>C) c.546T>C (p.Tyr182=) c.444T>C (p.Tyr148=) | |
| 7 | g.33017487A>T | CA367191707 | NT5C3A | c.507T>A (p.Tyr169Ter) c.645T>A (p.Tyr215Ter) c.543T>A (p.Tyr181Ter) c.660T>A (p.Tyr220Ter) c.*550T>A (n.*550T>A) c.546T>A (p.Tyr182Ter) c.444T>A (p.Tyr148Ter) |