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.33021218C>A | CA837721937 | NT5C3A | c.302+54G>T (n.302+54G>T) c.440+54G>T (n.440+54G>T) c.338+54G>T (n.338+54G>T) c.455+54G>T (n.455+54G>T) c.*345+54G>T (n.*345+54G>T) c.341+54G>T (n.341+54G>T) c.239+54G>T (n.239+54G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33021218C= | CA1698577205 | NT5C3A | c.302+54G= (n.302+54G=) c.440+54G= (n.440+54G=) c.338+54G= (n.338+54G=) c.455+54G= (n.455+54G=) c.*345+54G= (n.*345+54G=) c.341+54G= (n.341+54G=) c.239+54G= (n.239+54G=) | |
| 7 | g.33021218C>T | CA2682336282 | NT5C3A | c.302+54G>A (n.302+54G>A) c.440+54G>A (n.440+54G>A) c.338+54G>A (n.338+54G>A) c.455+54G>A (n.455+54G>A) c.*345+54G>A (n.*345+54G>A) c.341+54G>A (n.341+54G>A) c.239+54G>A (n.239+54G>A) | gnomAD v4 |
| 7 | g.33021219A>G | CA2531469289 | NT5C3A | c.302+53T>C (n.302+53T>C) c.440+53T>C (n.440+53T>C) c.338+53T>C (n.338+53T>C) c.455+53T>C (n.455+53T>C) c.*345+53T>C (n.*345+53T>C) c.341+53T>C (n.341+53T>C) c.239+53T>C (n.239+53T>C) | |
| 7 | g.33021220G>A | CA2578864062 | NT5C3A | c.302+52C>T (n.302+52C>T) c.440+52C>T (n.440+52C>T) c.338+52C>T (n.338+52C>T) c.455+52C>T (n.455+52C>T) c.*345+52C>T (n.*345+52C>T) c.341+52C>T (n.341+52C>T) c.239+52C>T (n.239+52C>T) | |
| 7 | g.33021220_33021223delinsGTGT | CA1698577206 | NT5C3A | c.302+49_302+52delinsACAC (n.302+49_302+52delinsACAC) c.440+49_440+52delinsACAC (n.440+49_440+52delinsACAC) c.338+49_338+52delinsACAC (n.338+49_338+52delinsACAC) c.455+49_455+52delinsACAC (n.455+49_455+52delinsACAC) c.*345+49_*345+52delinsACAC (n.*345+49_*345+52delinsACAC) c.341+49_341+52delinsACAC (n.341+49_341+52delinsACAC) c.239+49_239+52delinsACAC (n.239+49_239+52delinsACAC) | |
| 7 | g.33021225_33021227del | CA1698577207 | NT5C3A | c.302+49_302+51del (n.302+49_302+51del) c.440+49_440+51del (n.440+49_440+51del) c.338+49_338+51del (n.338+49_338+51del) c.455+49_455+51del (n.455+49_455+51del) c.*345+49_*345+51del (n.*345+49_*345+51del) c.341+49_341+51del (n.341+49_341+51del) c.239+49_239+51del (n.239+49_239+51del) | dbSNP gnomAD v4 |
| 7 | g.33021222G>A | CA1698577209 | NT5C3A | c.302+50C>T (n.302+50C>T) c.440+50C>T (n.440+50C>T) c.338+50C>T (n.338+50C>T) c.455+50C>T (n.455+50C>T) c.*345+50C>T (n.*345+50C>T) c.341+50C>T (n.341+50C>T) c.239+50C>T (n.239+50C>T) | dbSNP gnomAD v4 |
| 7 | g.33021222G= | CA1698577208 | NT5C3A | c.302+50C= (n.302+50C=) c.440+50C= (n.440+50C=) c.338+50C= (n.338+50C=) c.455+50C= (n.455+50C=) c.*345+50C= (n.*345+50C=) c.341+50C= (n.341+50C=) c.239+50C= (n.239+50C=) | |
| 7 | g.33021223T>A | CA4213418 | NT5C3A | c.302+49A>T (n.302+49A>T) c.440+49A>T (n.440+49A>T) c.338+49A>T (n.338+49A>T) c.455+49A>T (n.455+49A>T) c.*345+49A>T (n.*345+49A>T) c.341+49A>T (n.341+49A>T) c.239+49A>T (n.239+49A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33021223T= | CA1698577210 | NT5C3A | c.302+49A= (n.302+49A=) c.440+49A= (n.440+49A=) c.338+49A= (n.338+49A=) c.455+49A= (n.455+49A=) c.*345+49A= (n.*345+49A=) c.341+49A= (n.341+49A=) c.239+49A= (n.239+49A=) | |
| 7 | g.33021225_33021229del | CA2682336283 | NT5C3A | c.302+45_302+49del (n.302+45_302+49del) c.440+45_440+49del (n.440+45_440+49del) c.338+45_338+49del (n.338+45_338+49del) c.455+45_455+49del (n.455+45_455+49del) c.*345+45_*345+49del (n.*345+45_*345+49del) c.341+45_341+49del (n.341+45_341+49del) c.239+45_239+49del (n.239+45_239+49del) | gnomAD v4 |
| 7 | g.33021225_33021230delinsGTTTTA | CA1698577211 | NT5C3A | c.302+42_302+47delinsTAAAAC (n.302+42_302+47delinsTAAAAC) c.440+42_440+47delinsTAAAAC (n.440+42_440+47delinsTAAAAC) c.338+42_338+47delinsTAAAAC (n.338+42_338+47delinsTAAAAC) c.455+42_455+47delinsTAAAAC (n.455+42_455+47delinsTAAAAC) c.*345+42_*345+47delinsTAAAAC (n.*345+42_*345+47delinsTAAAAC) c.341+42_341+47delinsTAAAAC (n.341+42_341+47delinsTAAAAC) c.239+42_239+47delinsTAAAAC (n.239+42_239+47delinsTAAAAC) | |
| 7 | g.33021228_33021232del | CA156259669 | NT5C3A | c.302+42_302+46del (n.302+42_302+46del) c.440+42_440+46del (n.440+42_440+46del) c.338+42_338+46del (n.338+42_338+46del) c.455+42_455+46del (n.455+42_455+46del) c.*345+42_*345+46del (n.*345+42_*345+46del) c.341+42_341+46del (n.341+42_341+46del) c.239+42_239+46del (n.239+42_239+46del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33021229_33021232del | CA2578864063 | NT5C3A | c.302+42_302+45del (n.302+42_302+45del) c.440+42_440+45del (n.440+42_440+45del) c.338+42_338+45del (n.338+42_338+45del) c.455+42_455+45del (n.455+42_455+45del) c.*345+42_*345+45del (n.*345+42_*345+45del) c.341+42_341+45del (n.341+42_341+45del) c.239+42_239+45del (n.239+42_239+45del) | |
| 7 | g.33021228T>C | CA837721945 | NT5C3A | c.302+44A>G (n.302+44A>G) c.440+44A>G (n.440+44A>G) c.338+44A>G (n.338+44A>G) c.455+44A>G (n.455+44A>G) c.*345+44A>G (n.*345+44A>G) c.341+44A>G (n.341+44A>G) c.239+44A>G (n.239+44A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33021228T= | CA1698577212 | NT5C3A | c.302+44A= (n.302+44A=) c.440+44A= (n.440+44A=) c.338+44A= (n.338+44A=) c.455+44A= (n.455+44A=) c.*345+44A= (n.*345+44A=) c.341+44A= (n.341+44A=) c.239+44A= (n.239+44A=) | |
| 7 | g.33021229T>C | CA2578864064 | NT5C3A | c.302+43A>G (n.302+43A>G) c.440+43A>G (n.440+43A>G) c.338+43A>G (n.338+43A>G) c.455+43A>G (n.455+43A>G) c.*345+43A>G (n.*345+43A>G) c.341+43A>G (n.341+43A>G) c.239+43A>G (n.239+43A>G) | gnomAD v4 |
| 7 | g.33021230A= | CA1698577213 | NT5C3A | c.302+42T= (n.302+42T=) c.440+42T= (n.440+42T=) c.338+42T= (n.338+42T=) c.455+42T= (n.455+42T=) c.*345+42T= (n.*345+42T=) c.341+42T= (n.341+42T=) c.239+42T= (n.239+42T=) | |
| 7 | g.33021230A>C | CA573519175 | NT5C3A | c.302+42T>G (n.302+42T>G) c.440+42T>G (n.440+42T>G) c.338+42T>G (n.338+42T>G) c.455+42T>G (n.455+42T>G) c.*345+42T>G (n.*345+42T>G) c.341+42T>G (n.341+42T>G) c.239+42T>G (n.239+42T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021230A>G | CA2682336284 | NT5C3A | c.302+42T>C (n.302+42T>C) c.440+42T>C (n.440+42T>C) c.338+42T>C (n.338+42T>C) c.455+42T>C (n.455+42T>C) c.*345+42T>C (n.*345+42T>C) c.341+42T>C (n.341+42T>C) c.239+42T>C (n.239+42T>C) | gnomAD v4 |
| 7 | g.33021230A>T | CA4213419 | NT5C3A | c.302+42T>A (n.302+42T>A) c.440+42T>A (n.440+42T>A) c.338+42T>A (n.338+42T>A) c.455+42T>A (n.455+42T>A) c.*345+42T>A (n.*345+42T>A) c.341+42T>A (n.341+42T>A) c.239+42T>A (n.239+42T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33021231T>C | CA4213420 | NT5C3A | c.302+41A>G (n.302+41A>G) c.440+41A>G (n.440+41A>G) c.338+41A>G (n.338+41A>G) c.455+41A>G (n.455+41A>G) c.*345+41A>G (n.*345+41A>G) c.341+41A>G (n.341+41A>G) c.239+41A>G (n.239+41A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021231T= | CA1698577214 | NT5C3A | c.302+41A= (n.302+41A=) c.440+41A= (n.440+41A=) c.338+41A= (n.338+41A=) c.455+41A= (n.455+41A=) c.*345+41A= (n.*345+41A=) c.341+41A= (n.341+41A=) c.239+41A= (n.239+41A=) | |
| 7 | g.33021233A= | CA1698577215 | NT5C3A | c.302+39T= (n.302+39T=) c.440+39T= (n.440+39T=) c.338+39T= (n.338+39T=) c.455+39T= (n.455+39T=) c.*345+39T= (n.*345+39T=) c.341+39T= (n.341+39T=) c.239+39T= (n.239+39T=) | |
| 7 | g.33021233A>C | CA2682336285 | NT5C3A | c.302+39T>G (n.302+39T>G) c.440+39T>G (n.440+39T>G) c.338+39T>G (n.338+39T>G) c.455+39T>G (n.455+39T>G) c.*345+39T>G (n.*345+39T>G) c.341+39T>G (n.341+39T>G) c.239+39T>G (n.239+39T>G) | gnomAD v4 |
| 7 | g.33021233A>G | CA2682336286 | NT5C3A | c.302+39T>C (n.302+39T>C) c.440+39T>C (n.440+39T>C) c.338+39T>C (n.338+39T>C) c.455+39T>C (n.455+39T>C) c.*345+39T>C (n.*345+39T>C) c.341+39T>C (n.341+39T>C) c.239+39T>C (n.239+39T>C) | gnomAD v4 |
| 7 | g.33021233A>T | CA4213423 | NT5C3A | c.302+39T>A (n.302+39T>A) c.440+39T>A (n.440+39T>A) c.338+39T>A (n.338+39T>A) c.455+39T>A (n.455+39T>A) c.*345+39T>A (n.*345+39T>A) c.341+39T>A (n.341+39T>A) c.239+39T>A (n.239+39T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021233_33021234delinsAT | CA1698577216 | NT5C3A | c.302+38_302+39delinsAT (n.302+38_302+39delinsAT) c.440+38_440+39delinsAT (n.440+38_440+39delinsAT) c.338+38_338+39delinsAT (n.338+38_338+39delinsAT) c.455+38_455+39delinsAT (n.455+38_455+39delinsAT) c.*345+38_*345+39delinsAT (n.*345+38_*345+39delinsAT) c.341+38_341+39delinsAT (n.341+38_341+39delinsAT) c.239+38_239+39delinsAT (n.239+38_239+39delinsAT) | |
| 7 | g.33021242dup | CA4213422 | NT5C3A | c.302+38dup (n.302+38dup) c.440+38dup (n.440+38dup) c.338+38dup (n.338+38dup) c.455+38dup (n.455+38dup) c.*345+38dup (n.*345+38dup) c.341+38dup (n.341+38dup) c.239+38dup (n.239+38dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.33021241_33021242dup | CA2682336287 | NT5C3A | c.302+37_302+38dup (n.302+37_302+38dup) c.440+37_440+38dup (n.440+37_440+38dup) c.338+37_338+38dup (n.338+37_338+38dup) c.455+37_455+38dup (n.455+37_455+38dup) c.*345+37_*345+38dup (n.*345+37_*345+38dup) c.341+37_341+38dup (n.341+37_341+38dup) c.239+37_239+38dup (n.239+37_239+38dup) | gnomAD v4 |
| 7 | g.33021242del | CA4213421 | NT5C3A | c.302+38del (n.302+38del) c.440+38del (n.440+38del) c.338+38del (n.338+38del) c.455+38del (n.455+38del) c.*345+38del (n.*345+38del) c.341+38del (n.341+38del) c.239+38del (n.239+38del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021241_33021242del | CA2682336288 | NT5C3A | c.302+37_302+38del (n.302+37_302+38del) c.440+37_440+38del (n.440+37_440+38del) c.338+37_338+38del (n.338+37_338+38del) c.455+37_455+38del (n.455+37_455+38del) c.*345+37_*345+38del (n.*345+37_*345+38del) c.341+37_341+38del (n.341+37_341+38del) c.239+37_239+38del (n.239+37_239+38del) | gnomAD v4 |
| 7 | g.33021236T>A | CA4213424 | NT5C3A | c.302+36A>T (n.302+36A>T) c.440+36A>T (n.440+36A>T) c.338+36A>T (n.338+36A>T) c.455+36A>T (n.455+36A>T) c.*345+36A>T (n.*345+36A>T) c.341+36A>T (n.341+36A>T) c.239+36A>T (n.239+36A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021236T>G | CA837721961 | NT5C3A | c.302+36A>C (n.302+36A>C) c.440+36A>C (n.440+36A>C) c.338+36A>C (n.338+36A>C) c.455+36A>C (n.455+36A>C) c.*345+36A>C (n.*345+36A>C) c.341+36A>C (n.341+36A>C) c.239+36A>C (n.239+36A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33021236T= | CA1698577217 | NT5C3A | c.302+36A= (n.302+36A=) c.440+36A= (n.440+36A=) c.338+36A= (n.338+36A=) c.455+36A= (n.455+36A=) c.*345+36A= (n.*345+36A=) c.341+36A= (n.341+36A=) c.239+36A= (n.239+36A=) | |
| 7 | g.33021238T>C | CA4213425 | NT5C3A | c.302+34A>G (n.302+34A>G) c.440+34A>G (n.440+34A>G) c.338+34A>G (n.338+34A>G) c.455+34A>G (n.455+34A>G) c.*345+34A>G (n.*345+34A>G) c.341+34A>G (n.341+34A>G) c.239+34A>G (n.239+34A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33021238T= | CA1698577218 | NT5C3A | c.302+34A= (n.302+34A=) c.440+34A= (n.440+34A=) c.338+34A= (n.338+34A=) c.455+34A= (n.455+34A=) c.*345+34A= (n.*345+34A=) c.341+34A= (n.341+34A=) c.239+34A= (n.239+34A=) | |
| 7 | g.33021242T>A | CA4213426 | NT5C3A | c.302+30A>T (n.302+30A>T) c.440+30A>T (n.440+30A>T) c.338+30A>T (n.338+30A>T) c.455+30A>T (n.455+30A>T) c.*345+30A>T (n.*345+30A>T) c.341+30A>T (n.341+30A>T) c.239+30A>T (n.239+30A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33021242T= | CA1698577219 | NT5C3A | c.302+30A= (n.302+30A=) c.440+30A= (n.440+30A=) c.338+30A= (n.338+30A=) c.455+30A= (n.455+30A=) c.*345+30A= (n.*345+30A=) c.341+30A= (n.341+30A=) c.239+30A= (n.239+30A=) | |
| 7 | g.33021243A= | CA1698577220 | NT5C3A | c.302+29T= (n.302+29T=) c.440+29T= (n.440+29T=) c.338+29T= (n.338+29T=) c.455+29T= (n.455+29T=) c.*345+29T= (n.*345+29T=) c.341+29T= (n.341+29T=) c.239+29T= (n.239+29T=) | |
| 7 | g.33021243A>T | CA4213427 | NT5C3A | c.302+29T>A (n.302+29T>A) c.440+29T>A (n.440+29T>A) c.338+29T>A (n.338+29T>A) c.455+29T>A (n.455+29T>A) c.*345+29T>A (n.*345+29T>A) c.341+29T>A (n.341+29T>A) c.239+29T>A (n.239+29T>A) | dbSNP ExAC gnomAD v2 |
| 7 | g.33021244dup | CA2682336289 | NT5C3A | c.302+29dup (n.302+29dup) c.440+29dup (n.440+29dup) c.338+29dup (n.338+29dup) c.455+29dup (n.455+29dup) c.*345+29dup (n.*345+29dup) c.341+29dup (n.341+29dup) c.239+29dup (n.239+29dup) | gnomAD v4 |
| 7 | g.33021244del | CA2682336290 | NT5C3A | c.302+29del (n.302+29del) c.440+29del (n.440+29del) c.338+29del (n.338+29del) c.455+29del (n.455+29del) c.*345+29del (n.*345+29del) c.341+29del (n.341+29del) c.239+29del (n.239+29del) | gnomAD v4 |
| 7 | g.33021244A= | CA1698577221 | NT5C3A | c.302+28T= (n.302+28T=) c.440+28T= (n.440+28T=) c.338+28T= (n.338+28T=) c.455+28T= (n.455+28T=) c.*345+28T= (n.*345+28T=) c.341+28T= (n.341+28T=) c.239+28T= (n.239+28T=) | |
| 7 | g.33021244A>G | CA156259695 | NT5C3A | c.302+28T>C (n.302+28T>C) c.440+28T>C (n.440+28T>C) c.338+28T>C (n.338+28T>C) c.455+28T>C (n.455+28T>C) c.*345+28T>C (n.*345+28T>C) c.341+28T>C (n.341+28T>C) c.239+28T>C (n.239+28T>C) | dbSNP |
| 7 | g.33021245T>A | CA1698577223 | NT5C3A | c.302+27A>T (n.302+27A>T) c.440+27A>T (n.440+27A>T) c.338+27A>T (n.338+27A>T) c.455+27A>T (n.455+27A>T) c.*345+27A>T (n.*345+27A>T) c.341+27A>T (n.341+27A>T) c.239+27A>T (n.239+27A>T) | dbSNP |
| 7 | g.33021245T= | CA1698577222 | NT5C3A | c.302+27A= (n.302+27A=) c.440+27A= (n.440+27A=) c.338+27A= (n.338+27A=) c.455+27A= (n.455+27A=) c.*345+27A= (n.*345+27A=) c.341+27A= (n.341+27A=) c.239+27A= (n.239+27A=) | |
| 7 | g.33021245_33021246dup | CA2682336291 | NT5C3A | c.302+26_302+27dup (n.302+26_302+27dup) c.440+26_440+27dup (n.440+26_440+27dup) c.338+26_338+27dup (n.338+26_338+27dup) c.455+26_455+27dup (n.455+26_455+27dup) c.*345+26_*345+27dup (n.*345+26_*345+27dup) c.341+26_341+27dup (n.341+26_341+27dup) c.239+26_239+27dup (n.239+26_239+27dup) | gnomAD v4 |
| 7 | g.33021246C>T | CA2682336292 | NT5C3A | c.302+26G>A (n.302+26G>A) c.440+26G>A (n.440+26G>A) c.338+26G>A (n.338+26G>A) c.455+26G>A (n.455+26G>A) c.*345+26G>A (n.*345+26G>A) c.341+26G>A (n.341+26G>A) c.239+26G>A (n.239+26G>A) | gnomAD v4 |
| 7 | g.33021247C= | CA1698577224 | NT5C3A | c.302+25G= (n.302+25G=) c.440+25G= (n.440+25G=) c.338+25G= (n.338+25G=) c.455+25G= (n.455+25G=) c.*345+25G= (n.*345+25G=) c.341+25G= (n.341+25G=) c.239+25G= (n.239+25G=) | |
| 7 | g.33021247C>T | CA573519176 | NT5C3A | c.302+25G>A (n.302+25G>A) c.440+25G>A (n.440+25G>A) c.338+25G>A (n.338+25G>A) c.455+25G>A (n.455+25G>A) c.*345+25G>A (n.*345+25G>A) c.341+25G>A (n.341+25G>A) c.239+25G>A (n.239+25G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021248T>C | CA4213428 | NT5C3A | c.302+24A>G (n.302+24A>G) c.440+24A>G (n.440+24A>G) c.338+24A>G (n.338+24A>G) c.455+24A>G (n.455+24A>G) c.*345+24A>G (n.*345+24A>G) c.341+24A>G (n.341+24A>G) c.239+24A>G (n.239+24A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021248T= | CA1698577225 | NT5C3A | c.302+24A= (n.302+24A=) c.440+24A= (n.440+24A=) c.338+24A= (n.338+24A=) c.455+24A= (n.455+24A=) c.*345+24A= (n.*345+24A=) c.341+24A= (n.341+24A=) c.239+24A= (n.239+24A=) | |
| 7 | g.33021249C>T | CA2682336293 | NT5C3A | c.302+23G>A (n.302+23G>A) c.440+23G>A (n.440+23G>A) c.338+23G>A (n.338+23G>A) c.455+23G>A (n.455+23G>A) c.*345+23G>A (n.*345+23G>A) c.341+23G>A (n.341+23G>A) c.239+23G>A (n.239+23G>A) | gnomAD v4 |
| 7 | g.33021250C= | CA1698577226 | NT5C3A | c.302+22G= (n.302+22G=) c.440+22G= (n.440+22G=) c.338+22G= (n.338+22G=) c.455+22G= (n.455+22G=) c.*345+22G= (n.*345+22G=) c.341+22G= (n.341+22G=) c.239+22G= (n.239+22G=) | |
| 7 | g.33021250C>T | CA4213429 | NT5C3A | c.302+22G>A (n.302+22G>A) c.440+22G>A (n.440+22G>A) c.338+22G>A (n.338+22G>A) c.455+22G>A (n.455+22G>A) c.*345+22G>A (n.*345+22G>A) c.341+22G>A (n.341+22G>A) c.239+22G>A (n.239+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33021251T>C | CA2578864065 | NT5C3A | c.302+21A>G (n.302+21A>G) c.440+21A>G (n.440+21A>G) c.338+21A>G (n.338+21A>G) c.455+21A>G (n.455+21A>G) c.*345+21A>G (n.*345+21A>G) c.341+21A>G (n.341+21A>G) c.239+21A>G (n.239+21A>G) | |
| 7 | g.33021253C= | CA1698577227 | NT5C3A | c.302+19G= (n.302+19G=) c.440+19G= (n.440+19G=) c.338+19G= (n.338+19G=) c.455+19G= (n.455+19G=) c.*345+19G= (n.*345+19G=) c.341+19G= (n.341+19G=) c.239+19G= (n.239+19G=) | |
| 7 | g.33021253C>T | CA573519177 | NT5C3A | c.302+19G>A (n.302+19G>A) c.440+19G>A (n.440+19G>A) c.338+19G>A (n.338+19G>A) c.455+19G>A (n.455+19G>A) c.*345+19G>A (n.*345+19G>A) c.341+19G>A (n.341+19G>A) c.239+19G>A (n.239+19G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021254T>A | CA2682336294 | NT5C3A | c.302+18A>T (n.302+18A>T) c.440+18A>T (n.440+18A>T) c.338+18A>T (n.338+18A>T) c.455+18A>T (n.455+18A>T) c.*345+18A>T (n.*345+18A>T) c.341+18A>T (n.341+18A>T) c.239+18A>T (n.239+18A>T) | gnomAD v4 |
| 7 | g.33021254T>C | CA2682336295 | NT5C3A | c.302+18A>G (n.302+18A>G) c.440+18A>G (n.440+18A>G) c.338+18A>G (n.338+18A>G) c.455+18A>G (n.455+18A>G) c.*345+18A>G (n.*345+18A>G) c.341+18A>G (n.341+18A>G) c.239+18A>G (n.239+18A>G) | gnomAD v4 |
| 7 | g.33021255G>A | CA573519178 | NT5C3A | c.302+17C>T (n.302+17C>T) c.440+17C>T (n.440+17C>T) c.338+17C>T (n.338+17C>T) c.455+17C>T (n.455+17C>T) c.*345+17C>T (n.*345+17C>T) c.341+17C>T (n.341+17C>T) c.239+17C>T (n.239+17C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021255G= | CA1698577228 | NT5C3A | c.302+17C= (n.302+17C=) c.440+17C= (n.440+17C=) c.338+17C= (n.338+17C=) c.455+17C= (n.455+17C=) c.*345+17C= (n.*345+17C=) c.341+17C= (n.341+17C=) c.239+17C= (n.239+17C=) | |
| 7 | g.33021256C>T | CA2682336296 | NT5C3A | c.302+16G>A (n.302+16G>A) c.440+16G>A (n.440+16G>A) c.338+16G>A (n.338+16G>A) c.455+16G>A (n.455+16G>A) c.*345+16G>A (n.*345+16G>A) c.341+16G>A (n.341+16G>A) c.239+16G>A (n.239+16G>A) | gnomAD v4 |
| 7 | g.33021257C>T | CA2682336297 | NT5C3A | c.302+15G>A (n.302+15G>A) c.440+15G>A (n.440+15G>A) c.338+15G>A (n.338+15G>A) c.455+15G>A (n.455+15G>A) c.*345+15G>A (n.*345+15G>A) c.341+15G>A (n.341+15G>A) c.239+15G>A (n.239+15G>A) | gnomAD v4 |
| 7 | g.33021258T>G | CA2682336298 | NT5C3A | c.302+14A>C (n.302+14A>C) c.440+14A>C (n.440+14A>C) c.338+14A>C (n.338+14A>C) c.455+14A>C (n.455+14A>C) c.*345+14A>C (n.*345+14A>C) c.341+14A>C (n.341+14A>C) c.239+14A>C (n.239+14A>C) | gnomAD v4 |
| 7 | g.33021263_33021264del | CA2595280132 | NT5C3A | c.302+11_302+12del (n.302+11_302+12del) c.440+11_440+12del (n.440+11_440+12del) c.338+11_338+12del (n.338+11_338+12del) c.455+11_455+12del (n.455+11_455+12del) c.*345+11_*345+12del (n.*345+11_*345+12del) c.341+11_341+12del (n.341+11_341+12del) c.239+11_239+12del (n.239+11_239+12del) | gnomAD v3 |
| 7 | g.33021262A= | CA1698577229 | NT5C3A | c.302+10T= (n.302+10T=) c.440+10T= (n.440+10T=) c.338+10T= (n.338+10T=) c.455+10T= (n.455+10T=) c.*345+10T= (n.*345+10T=) c.341+10T= (n.341+10T=) c.239+10T= (n.239+10T=) | |
| 7 | g.33021262A>C | CA2682336299 | NT5C3A | c.302+10T>G (n.302+10T>G) c.440+10T>G (n.440+10T>G) c.338+10T>G (n.338+10T>G) c.455+10T>G (n.455+10T>G) c.*345+10T>G (n.*345+10T>G) c.341+10T>G (n.341+10T>G) c.239+10T>G (n.239+10T>G) | gnomAD v4 |
| 7 | g.33021262A>G | CA4213430 | NT5C3A | c.302+10T>C (n.302+10T>C) c.440+10T>C (n.440+10T>C) c.338+10T>C (n.338+10T>C) c.455+10T>C (n.455+10T>C) c.*345+10T>C (n.*345+10T>C) c.341+10T>C (n.341+10T>C) c.239+10T>C (n.239+10T>C) | dbSNP ExAC gnomAD v2 |
| 7 | g.33021263T>C | CA4213431 | NT5C3A | c.302+9A>G (n.302+9A>G) c.440+9A>G (n.440+9A>G) c.338+9A>G (n.338+9A>G) c.455+9A>G (n.455+9A>G) c.*345+9A>G (n.*345+9A>G) c.341+9A>G (n.341+9A>G) c.239+9A>G (n.239+9A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021263T= | CA1698577230 | NT5C3A | c.302+9A= (n.302+9A=) c.440+9A= (n.440+9A=) c.338+9A= (n.338+9A=) c.455+9A= (n.455+9A=) c.*345+9A= (n.*345+9A=) c.341+9A= (n.341+9A=) c.239+9A= (n.239+9A=) | |
| 7 | g.33021267C>T | CA2682336300 | NT5C3A | c.302+5G>A (n.302+5G>A) c.440+5G>A (n.440+5G>A) c.338+5G>A (n.338+5G>A) c.455+5G>A (n.455+5G>A) c.*345+5G>A (n.*345+5G>A) c.341+5G>A (n.341+5G>A) c.239+5G>A (n.239+5G>A) | gnomAD v4 |
| 7 | g.33021269T>C | CA2578864066 | NT5C3A | c.302+3A>G (n.302+3A>G) c.440+3A>G (n.440+3A>G) c.338+3A>G (n.338+3A>G) c.455+3A>G (n.455+3A>G) c.*345+3A>G (n.*345+3A>G) c.341+3A>G (n.341+3A>G) c.239+3A>G (n.239+3A>G) | |
| 7 | g.33021269T= | CA1698577231 | NT5C3A | c.302+3A= (n.302+3A=) c.440+3A= (n.440+3A=) c.338+3A= (n.338+3A=) c.455+3A= (n.455+3A=) c.*345+3A= (n.*345+3A=) c.341+3A= (n.341+3A=) c.239+3A= (n.239+3A=) | |
| 7 | g.33021270A>C | CA367192558 | NT5C3A | c.302+2T>G (n.302+2T>G) c.440+2T>G (n.440+2T>G) c.338+2T>G (n.338+2T>G) c.455+2T>G (n.455+2T>G) c.*345+2T>G (n.*345+2T>G) c.341+2T>G (n.341+2T>G) c.239+2T>G (n.239+2T>G) | |
| 7 | g.33021270A>G | CA367192559 | NT5C3A | c.302+2T>C (n.302+2T>C) c.440+2T>C (n.440+2T>C) c.338+2T>C (n.338+2T>C) c.455+2T>C (n.455+2T>C) c.*345+2T>C (n.*345+2T>C) c.341+2T>C (n.341+2T>C) c.239+2T>C (n.239+2T>C) | |
| 7 | g.33021270A>T | CA367192560 | NT5C3A | c.302+2T>A (n.302+2T>A) c.440+2T>A (n.440+2T>A) c.338+2T>A (n.338+2T>A) c.455+2T>A (n.455+2T>A) c.*345+2T>A (n.*345+2T>A) c.341+2T>A (n.341+2T>A) c.239+2T>A (n.239+2T>A) | |
| 7 | g.33021270dup | CA837721990 | NT5C3A | c.302+2dup (n.302+2dup) c.440+2dup (n.440+2dup) c.338+2dup (n.338+2dup) c.455+2dup (n.455+2dup) c.*345+2dup (n.*345+2dup) c.341+2dup (n.341+2dup) c.239+2dup (n.239+2dup) | dbSNP gnomAD v4 |
| 7 | g.33021271C>A | CA367192561 | NT5C3A | c.302+1G>T (n.302+1G>T) c.440+1G>T (n.440+1G>T) c.338+1G>T (n.338+1G>T) c.455+1G>T (n.455+1G>T) c.*345+1G>T (n.*345+1G>T) c.341+1G>T (n.341+1G>T) c.239+1G>T (n.239+1G>T) | dbSNP gnomAD v4 |
| 7 | g.33021271C= | CA1698577232 | NT5C3A | c.302+1G= (n.302+1G=) c.440+1G= (n.440+1G=) c.338+1G= (n.338+1G=) c.455+1G= (n.455+1G=) c.*345+1G= (n.*345+1G=) c.341+1G= (n.341+1G=) c.239+1G= (n.239+1G=) | |
| 7 | g.33021271C>G | CA156259709 | NT5C3A | c.302+1G>C (n.302+1G>C) c.440+1G>C (n.440+1G>C) c.338+1G>C (n.338+1G>C) c.455+1G>C (n.455+1G>C) c.*345+1G>C (n.*345+1G>C) c.341+1G>C (n.341+1G>C) c.239+1G>C (n.239+1G>C) | dbSNP COSMIC |
| 7 | g.33021271C>T | CA4213432 | NT5C3A | c.302+1G>A (n.302+1G>A) c.440+1G>A (n.440+1G>A) c.338+1G>A (n.338+1G>A) c.455+1G>A (n.455+1G>A) c.*345+1G>A (n.*345+1G>A) c.341+1G>A (n.341+1G>A) c.239+1G>A (n.239+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33021272del | CA2578864067 | NT5C3A | c.302+1del c.440+1del c.338+1del c.455+1del c.*345+1del c.341+1del c.239+1del | |
| 7 | g.33021272C>A | CA367192562 | NT5C3A | c.302G>T (p.Trp101Leu) c.440G>T (p.Trp147Leu) c.338G>T (p.Trp113Leu) c.455G>T (p.Trp152Leu) c.*345G>T (n.*345G>T) c.341G>T (p.Trp114Leu) c.239G>T (p.Trp80Leu) | |
| 7 | g.33021272C= | CA1698577233 | NT5C3A | c.302G= (p.Trp101=) c.440G= (p.Trp147=) c.338G= (p.Trp113=) c.455G= (p.Trp152=) c.*345G= (n.*345G=) c.341G= (p.Trp114=) c.239G= (p.Trp80=) | |
| 7 | g.33021272C>G | CA367192564 | NT5C3A | c.302G>C (p.Trp101Ser) c.440G>C (p.Trp147Ser) c.338G>C (p.Trp113Ser) c.455G>C (p.Trp152Ser) c.*345G>C (n.*345G>C) c.341G>C (p.Trp114Ser) c.239G>C (p.Trp80Ser) | |
| 7 | g.33021272C>T | CA367192563 | NT5C3A | c.302G>A (p.Trp101Ter) c.440G>A (p.Trp147Ter) c.338G>A (p.Trp113Ter) c.455G>A (p.Trp152Ter) c.*345G>A (n.*345G>A) c.341G>A (p.Trp114Ter) c.239G>A (p.Trp80Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.33021273A>C | CA367192565 | NT5C3A | c.301T>G (p.Trp101Gly) c.439T>G (p.Trp147Gly) c.337T>G (p.Trp113Gly) c.454T>G (p.Trp152Gly) c.*344T>G (n.*344T>G) c.340T>G (p.Trp114Gly) c.238T>G (p.Trp80Gly) | |
| 7 | g.33021273A>G | CA367192566 | NT5C3A | c.301T>C (p.Trp101Arg) c.439T>C (p.Trp147Arg) c.337T>C (p.Trp113Arg) c.454T>C (p.Trp152Arg) c.*344T>C (n.*344T>C) c.340T>C (p.Trp114Arg) c.238T>C (p.Trp80Arg) | |
| 7 | g.33021273A>T | CA367192567 | NT5C3A | c.301T>A (p.Trp101Arg) c.439T>A (p.Trp147Arg) c.337T>A (p.Trp113Arg) c.454T>A (p.Trp152Arg) c.*344T>A (n.*344T>A) c.340T>A (p.Trp114Arg) c.238T>A (p.Trp80Arg) | |
| 7 | g.33021274T>A | CA367192568 | NT5C3A | c.300A>T (p.Glu100Asp) c.438A>T (p.Glu146Asp) c.336A>T (p.Glu112Asp) c.453A>T (p.Glu151Asp) c.*343A>T (n.*343A>T) c.339A>T (p.Glu113Asp) c.237A>T (p.Glu79Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021274T>C | CA4213433 | NT5C3A | c.300A>G (p.Glu100=) c.438A>G (p.Glu146=) c.336A>G (p.Glu112=) c.453A>G (p.Glu151=) c.*343A>G (n.*343A>G) c.339A>G (p.Glu113=) c.237A>G (p.Glu79=) | dbSNP ExAC |
| 7 | g.33021274T>G | CA367192569 | NT5C3A | c.300A>C (p.Glu100Asp) c.438A>C (p.Glu146Asp) c.336A>C (p.Glu112Asp) c.453A>C (p.Glu151Asp) c.*343A>C (n.*343A>C) c.339A>C (p.Glu113Asp) c.237A>C (p.Glu79Asp) | |
| 7 | g.33021274T= | CA1698577234 | NT5C3A | c.300A= (p.Glu100=) c.438A= (p.Glu146=) c.336A= (p.Glu112=) c.453A= (p.Glu151=) c.*343A= (n.*343A=) c.339A= (p.Glu113=) c.237A= (p.Glu79=) | |
| 7 | g.33021275T>A | CA367192572 | NT5C3A | c.299A>T (p.Glu100Val) c.437A>T (p.Glu146Val) c.335A>T (p.Glu112Val) c.452A>T (p.Glu151Val) c.*342A>T (n.*342A>T) c.338A>T (p.Glu113Val) c.236A>T (p.Glu79Val) | gnomAD v4 |
| 7 | g.33021275T>C | CA367192571 | NT5C3A | c.299A>G (p.Glu100Gly) c.437A>G (p.Glu146Gly) c.335A>G (p.Glu112Gly) c.452A>G (p.Glu151Gly) c.*342A>G (n.*342A>G) c.338A>G (p.Glu113Gly) c.236A>G (p.Glu79Gly) | |
| 7 | g.33021275T>G | CA367192570 | NT5C3A | c.299A>C (p.Glu100Ala) c.437A>C (p.Glu146Ala) c.335A>C (p.Glu112Ala) c.452A>C (p.Glu151Ala) c.*342A>C (n.*342A>C) c.338A>C (p.Glu113Ala) c.236A>C (p.Glu79Ala) | COSMIC COSMIC |
| 7 | g.33021276C>A | CA367192573 | NT5C3A | c.298G>T (p.Glu100Ter) c.436G>T (p.Glu146Ter) c.334G>T (p.Glu112Ter) c.451G>T (p.Glu151Ter) c.*341G>T (n.*341G>T) c.337G>T (p.Glu113Ter) c.235G>T (p.Glu79Ter) | |
| 7 | g.33021276C= | CA1698577235 | NT5C3A | c.298G= (p.Glu100=) c.436G= (p.Glu146=) c.334G= (p.Glu112=) c.451G= (p.Glu151=) c.*341G= (n.*341G=) c.337G= (p.Glu113=) c.235G= (p.Glu79=) | |
| 7 | g.33021276C>G | CA367192574 | NT5C3A | c.298G>C (p.Glu100Gln) c.436G>C (p.Glu146Gln) c.334G>C (p.Glu112Gln) c.451G>C (p.Glu151Gln) c.*341G>C (n.*341G>C) c.337G>C (p.Glu113Gln) c.235G>C (p.Glu79Gln) | |
| 7 | g.33021276C>T | CA367192575 | NT5C3A | c.298G>A (p.Glu100Lys) c.436G>A (p.Glu146Lys) c.334G>A (p.Glu112Lys) c.451G>A (p.Glu151Lys) c.*341G>A (n.*341G>A) c.337G>A (p.Glu113Lys) c.235G>A (p.Glu79Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021277C>A | CA454342506 | NT5C3A | c.297G>T (p.Val99=) c.435G>T (p.Val145=) c.333G>T (p.Val111=) c.450G>T (p.Val150=) c.*340G>T (n.*340G>T) c.336G>T (p.Val112=) c.234G>T (p.Val78=) | |
| 7 | g.33021277C>G | CA454342509 | NT5C3A | c.297G>C (p.Val99=) c.435G>C (p.Val145=) c.333G>C (p.Val111=) c.450G>C (p.Val150=) c.*340G>C (n.*340G>C) c.336G>C (p.Val112=) c.234G>C (p.Val78=) | |
| 7 | g.33021277C>T | CA454342507 | NT5C3A | c.297G>A (p.Val99=) c.435G>A (p.Val145=) c.333G>A (p.Val111=) c.450G>A (p.Val150=) c.*340G>A (n.*340G>A) c.336G>A (p.Val112=) c.234G>A (p.Val78=) | |
| 7 | g.33021278A= | CA1698577236 | NT5C3A | c.296T= (p.Val99=) c.434T= (p.Val145=) c.332T= (p.Val111=) c.449T= (p.Val150=) c.*339T= (n.*339T=) c.335T= (p.Val112=) c.233T= (p.Val78=) | |
| 7 | g.33021278A>C | CA367192576 | NT5C3A | c.296T>G (p.Val99Gly) c.434T>G (p.Val145Gly) c.332T>G (p.Val111Gly) c.449T>G (p.Val150Gly) c.*339T>G (n.*339T>G) c.335T>G (p.Val112Gly) c.233T>G (p.Val78Gly) | |
| 7 | g.33021278A>G | CA367192577 | NT5C3A | c.296T>C (p.Val99Ala) c.434T>C (p.Val145Ala) c.332T>C (p.Val111Ala) c.449T>C (p.Val150Ala) c.*339T>C (n.*339T>C) c.335T>C (p.Val112Ala) c.233T>C (p.Val78Ala) | gnomAD v4 |
| 7 | g.33021278A>T | CA367192578 | NT5C3A | c.296T>A (p.Val99Glu) c.434T>A (p.Val145Glu) c.332T>A (p.Val111Glu) c.449T>A (p.Val150Glu) c.*339T>A (n.*339T>A) c.335T>A (p.Val112Glu) c.233T>A (p.Val78Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33021279C>A | CA367192579 | NT5C3A | c.295G>T (p.Val99Leu) c.433G>T (p.Val145Leu) c.331G>T (p.Val111Leu) c.448G>T (p.Val150Leu) c.*338G>T (n.*338G>T) c.334G>T (p.Val112Leu) c.232G>T (p.Val78Leu) | |
| 7 | g.33021279C= | CA1698577237 | NT5C3A | c.295G= (p.Val99=) c.433G= (p.Val145=) c.331G= (p.Val111=) c.448G= (p.Val150=) c.*338G= (n.*338G=) c.334G= (p.Val112=) c.232G= (p.Val78=) | |
| 7 | g.33021279C>G | CA367192581 | NT5C3A | c.295G>C (p.Val99Leu) c.433G>C (p.Val145Leu) c.331G>C (p.Val111Leu) c.448G>C (p.Val150Leu) c.*338G>C (n.*338G>C) c.334G>C (p.Val112Leu) c.232G>C (p.Val78Leu) | |
| 7 | g.33021279C>T | CA367192580 | NT5C3A | c.295G>A (p.Val99Met) c.433G>A (p.Val145Met) c.331G>A (p.Val111Met) c.448G>A (p.Val150Met) c.*338G>A (n.*338G>A) c.334G>A (p.Val112Met) c.232G>A (p.Val78Met) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33021280C>A | CA367192582 | NT5C3A | c.294G>T (p.Met98Ile) c.432G>T (p.Met144Ile) c.330G>T (p.Met110Ile) c.447G>T (p.Met149Ile) c.*337G>T (n.*337G>T) c.333G>T (p.Met111Ile) c.231G>T (p.Met77Ile) | |
| 7 | g.33021280C>G | CA367192583 | NT5C3A | c.294G>C (p.Met98Ile) c.432G>C (p.Met144Ile) c.330G>C (p.Met110Ile) c.447G>C (p.Met149Ile) c.*337G>C (n.*337G>C) c.333G>C (p.Met111Ile) c.231G>C (p.Met77Ile) | |
| 7 | g.33021280C>T | CA367192584 | NT5C3A | c.294G>A (p.Met98Ile) c.432G>A (p.Met144Ile) c.330G>A (p.Met110Ile) c.447G>A (p.Met149Ile) c.*337G>A (n.*337G>A) c.333G>A (p.Met111Ile) c.231G>A (p.Met77Ile) | gnomAD v4 |
| 7 | g.33021280_33021282delinsCAT | CA1698577238 | NT5C3A | c.292_294delinsATG (p.Met98=) c.430_432delinsATG (p.Met144=) c.328_330delinsATG (p.Met110=) c.445_447delinsATG (p.Met149=) c.*335_*337delinsATG (n.*335_*337delinsATG) c.331_333delinsATG (p.Met111=) c.229_231delinsATG (p.Met77=) | |
| 7 | g.33021281A>C | CA367192585 | NT5C3A | c.293T>G (p.Met98Arg) c.431T>G (p.Met144Arg) c.329T>G (p.Met110Arg) c.446T>G (p.Met149Arg) c.*336T>G (n.*336T>G) c.332T>G (p.Met111Arg) c.230T>G (p.Met77Arg) | |
| 7 | g.33021281A>G | CA367192586 | NT5C3A | c.293T>C (p.Met98Thr) c.431T>C (p.Met144Thr) c.329T>C (p.Met110Thr) c.446T>C (p.Met149Thr) c.*336T>C (n.*336T>C) c.332T>C (p.Met111Thr) c.230T>C (p.Met77Thr) | |
| 7 | g.33021281A>T | CA367192587 | NT5C3A | c.293T>A (p.Met98Lys) c.431T>A (p.Met144Lys) c.329T>A (p.Met110Lys) c.446T>A (p.Met149Lys) c.*336T>A (n.*336T>A) c.332T>A (p.Met111Lys) c.230T>A (p.Met77Lys) | |
| 7 | g.33021284_33021285del | CA1698577239 | NT5C3A | c.292_293del (p.Met98GlyfsTer6) c.430_431del (p.Met144GlyfsTer6) c.328_329del (p.Met110GlyfsTer6) c.445_446del (p.Met149GlyfsTer6) c.*335_*336del (n.*335_*336del) c.331_332del (p.Met111GlyfsTer6) c.229_230del (p.Met77GlyfsTer6) | dbSNP |
| 7 | g.33021282T>A | CA367192588 | NT5C3A | c.292A>T (p.Met98Leu) c.430A>T (p.Met144Leu) c.328A>T (p.Met110Leu) c.445A>T (p.Met149Leu) c.*335A>T (n.*335A>T) c.331A>T (p.Met111Leu) c.229A>T (p.Met77Leu) | gnomAD v4 |
| 7 | g.33021282T>C | CA4213434 | NT5C3A | c.292A>G (p.Met98Val) c.430A>G (p.Met144Val) c.328A>G (p.Met110Val) c.445A>G (p.Met149Val) c.*335A>G (n.*335A>G) c.331A>G (p.Met111Val) c.229A>G (p.Met77Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33021282T>G | CA367192589 | NT5C3A | c.292A>C (p.Met98Leu) c.430A>C (p.Met144Leu) c.328A>C (p.Met110Leu) c.445A>C (p.Met149Leu) c.*335A>C (n.*335A>C) c.331A>C (p.Met111Leu) c.229A>C (p.Met77Leu) | |
| 7 | g.33021282T= | CA1698577240 | NT5C3A | c.292A= (p.Met98=) c.430A= (p.Met144=) c.328A= (p.Met110=) c.445A= (p.Met149=) c.*335A= (n.*335A=) c.331A= (p.Met111=) c.229A= (p.Met77=) | |
| 7 | g.33021283A>C | CA367192590 | NT5C3A | c.291T>G (p.Tyr97Ter) c.429T>G (p.Tyr143Ter) c.327T>G (p.Tyr109Ter) c.444T>G (p.Tyr148Ter) c.*334T>G (n.*334T>G) c.330T>G (p.Tyr110Ter) c.228T>G (p.Tyr76Ter) | |
| 7 | g.33021283A>G | CA454342519 | NT5C3A | c.291T>C (p.Tyr97=) c.429T>C (p.Tyr143=) c.327T>C (p.Tyr109=) c.444T>C (p.Tyr148=) c.*334T>C (n.*334T>C) c.330T>C (p.Tyr110=) c.228T>C (p.Tyr76=) | |
| 7 | g.33021283A>T | CA367192591 | NT5C3A | c.291T>A (p.Tyr97Ter) c.429T>A (p.Tyr143Ter) c.327T>A (p.Tyr109Ter) c.444T>A (p.Tyr148Ter) c.*334T>A (n.*334T>A) c.330T>A (p.Tyr110Ter) c.228T>A (p.Tyr76Ter) | |
| 7 | g.33021284T>A | CA367192592 | NT5C3A | c.290A>T (p.Tyr97Phe) c.428A>T (p.Tyr143Phe) c.326A>T (p.Tyr109Phe) c.443A>T (p.Tyr148Phe) c.*333A>T (n.*333A>T) c.329A>T (p.Tyr110Phe) c.227A>T (p.Tyr76Phe) | |
| 7 | g.33021284T>C | CA367192594 | NT5C3A | c.290A>G (p.Tyr97Cys) c.428A>G (p.Tyr143Cys) c.326A>G (p.Tyr109Cys) c.443A>G (p.Tyr148Cys) c.*333A>G (n.*333A>G) c.329A>G (p.Tyr110Cys) c.227A>G (p.Tyr76Cys) | COSMIC COSMIC |
| 7 | g.33021284T>G | CA367192593 | NT5C3A | c.290A>C (p.Tyr97Ser) c.428A>C (p.Tyr143Ser) c.326A>C (p.Tyr109Ser) c.443A>C (p.Tyr148Ser) c.*333A>C (n.*333A>C) c.329A>C (p.Tyr110Ser) c.227A>C (p.Tyr76Ser) | |
| 7 | g.33021285A= | CA1698577241 | NT5C3A | c.289T= (p.Tyr97=) c.427T= (p.Tyr143=) c.325T= (p.Tyr109=) c.442T= (p.Tyr148=) c.*332T= (n.*332T=) c.328T= (p.Tyr110=) c.226T= (p.Tyr76=) | |
| 7 | g.33021285A>C | CA367192595 | NT5C3A | c.289T>G (p.Tyr97Asp) c.427T>G (p.Tyr143Asp) c.325T>G (p.Tyr109Asp) c.442T>G (p.Tyr148Asp) c.*332T>G (n.*332T>G) c.328T>G (p.Tyr110Asp) c.226T>G (p.Tyr76Asp) | |
| 7 | g.33021285A>G | CA4213435 | NT5C3A | c.289T>C (p.Tyr97His) c.427T>C (p.Tyr143His) c.325T>C (p.Tyr109His) c.442T>C (p.Tyr148His) c.*332T>C (n.*332T>C) c.328T>C (p.Tyr110His) c.226T>C (p.Tyr76His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021285A>T | CA367192596 | NT5C3A | c.289T>A (p.Tyr97Asn) c.427T>A (p.Tyr143Asn) c.325T>A (p.Tyr109Asn) c.442T>A (p.Tyr148Asn) c.*332T>A (n.*332T>A) c.328T>A (p.Tyr110Asn) c.226T>A (p.Tyr76Asn) | |
| 7 | g.33021286A>C | CA454342524 | NT5C3A | c.288T>G (p.Pro96=) c.426T>G (p.Pro142=) c.324T>G (p.Pro108=) c.441T>G (p.Pro147=) c.*331T>G (n.*331T>G) c.327T>G (p.Pro109=) c.225T>G (p.Pro75=) | |
| 7 | g.33021286A>G | CA454342522 | NT5C3A | c.288T>C (p.Pro96=) c.426T>C (p.Pro142=) c.324T>C (p.Pro108=) c.441T>C (p.Pro147=) c.*331T>C (n.*331T>C) c.327T>C (p.Pro109=) c.225T>C (p.Pro75=) | |
| 7 | g.33021286A>T | CA454342523 | NT5C3A | c.288T>A (p.Pro96=) c.426T>A (p.Pro142=) c.324T>A (p.Pro108=) c.441T>A (p.Pro147=) c.*331T>A (n.*331T>A) c.327T>A (p.Pro109=) c.225T>A (p.Pro75=) | gnomAD v4 |
| 7 | g.33021287G>A | CA367192597 | NT5C3A | c.287C>T (p.Pro96Leu) c.425C>T (p.Pro142Leu) c.323C>T (p.Pro108Leu) c.440C>T (p.Pro147Leu) c.*330C>T (n.*330C>T) c.326C>T (p.Pro109Leu) c.224C>T (p.Pro75Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021287G>C | CA367192598 | NT5C3A | c.287C>G (p.Pro96Arg) c.425C>G (p.Pro142Arg) c.323C>G (p.Pro108Arg) c.440C>G (p.Pro147Arg) c.*330C>G (n.*330C>G) c.326C>G (p.Pro109Arg) c.224C>G (p.Pro75Arg) | |
| 7 | g.33021287G= | CA1698577242 | NT5C3A | c.287C= (p.Pro96=) c.425C= (p.Pro142=) c.323C= (p.Pro108=) c.440C= (p.Pro147=) c.*330C= (n.*330C=) c.326C= (p.Pro109=) c.224C= (p.Pro75=) | |
| 7 | g.33021287G>T | CA4213436 | NT5C3A | c.287C>A (p.Pro96His) c.425C>A (p.Pro142His) c.323C>A (p.Pro108His) c.440C>A (p.Pro147His) c.*330C>A (n.*330C>A) c.326C>A (p.Pro109His) c.224C>A (p.Pro75His) | dbSNP ExAC gnomAD v2 |
| 7 | g.33021288G>A | CA367192599 | NT5C3A | c.286C>T (p.Pro96Ser) c.424C>T (p.Pro142Ser) c.322C>T (p.Pro108Ser) c.439C>T (p.Pro147Ser) c.*329C>T (n.*329C>T) c.325C>T (p.Pro109Ser) c.223C>T (p.Pro75Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021288G>C | CA367192600 | NT5C3A | c.286C>G (p.Pro96Ala) c.424C>G (p.Pro142Ala) c.322C>G (p.Pro108Ala) c.439C>G (p.Pro147Ala) c.*329C>G (n.*329C>G) c.325C>G (p.Pro109Ala) c.223C>G (p.Pro75Ala) | dbSNP |
| 7 | g.33021288G= | CA1698577243 | NT5C3A | c.286C= (p.Pro96=) c.424C= (p.Pro142=) c.322C= (p.Pro108=) c.439C= (p.Pro147=) c.*329C= (n.*329C=) c.325C= (p.Pro109=) c.223C= (p.Pro75=) | |
| 7 | g.33021288G>T | CA4213437 | NT5C3A | c.286C>A (p.Pro96Thr) c.424C>A (p.Pro142Thr) c.322C>A (p.Pro108Thr) c.439C>A (p.Pro147Thr) c.*329C>A (n.*329C>A) c.325C>A (p.Pro109Thr) c.223C>A (p.Pro75Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021289G>A | CA454342525 | NT5C3A | c.285C>T (p.Tyr95=) c.423C>T (p.Tyr141=) c.321C>T (p.Tyr107=) c.438C>T (p.Tyr146=) c.*328C>T (n.*328C>T) c.324C>T (p.Tyr108=) c.222C>T (p.Tyr74=) | gnomAD v4 |
| 7 | g.33021289G>C | CA367192601 | NT5C3A | c.285C>G (p.Tyr95Ter) c.423C>G (p.Tyr141Ter) c.321C>G (p.Tyr107Ter) c.438C>G (p.Tyr146Ter) c.*328C>G (n.*328C>G) c.324C>G (p.Tyr108Ter) c.222C>G (p.Tyr74Ter) | |
| 7 | g.33021289G>T | CA367192602 | NT5C3A | c.285C>A (p.Tyr95Ter) c.423C>A (p.Tyr141Ter) c.321C>A (p.Tyr107Ter) c.438C>A (p.Tyr146Ter) c.*328C>A (n.*328C>A) c.324C>A (p.Tyr108Ter) c.222C>A (p.Tyr74Ter) | |
| 7 | g.33021290T>A | CA367192605 | NT5C3A | c.284A>T (p.Tyr95Phe) c.422A>T (p.Tyr141Phe) c.320A>T (p.Tyr107Phe) c.437A>T (p.Tyr146Phe) c.*327A>T (n.*327A>T) c.323A>T (p.Tyr108Phe) c.221A>T (p.Tyr74Phe) | |
| 7 | g.33021290T>C | CA367192604 | NT5C3A | c.284A>G (p.Tyr95Cys) c.422A>G (p.Tyr141Cys) c.320A>G (p.Tyr107Cys) c.437A>G (p.Tyr146Cys) c.*327A>G (n.*327A>G) c.323A>G (p.Tyr108Cys) c.221A>G (p.Tyr74Cys) | gnomAD v4 |
| 7 | g.33021290T>G | CA367192603 | NT5C3A | c.284A>C (p.Tyr95Ser) c.422A>C (p.Tyr141Ser) c.320A>C (p.Tyr107Ser) c.437A>C (p.Tyr146Ser) c.*327A>C (n.*327A>C) c.323A>C (p.Tyr108Ser) c.221A>C (p.Tyr74Ser) | |
| 7 | g.33021291A= | CA1698577244 | NT5C3A | c.283T= (p.Tyr95=) c.421T= (p.Tyr141=) c.319T= (p.Tyr107=) c.436T= (p.Tyr146=) c.*326T= (n.*326T=) c.322T= (p.Tyr108=) c.220T= (p.Tyr74=) | |
| 7 | g.33021291A>C | CA367192606 | NT5C3A | c.283T>G (p.Tyr95Asp) c.421T>G (p.Tyr141Asp) c.319T>G (p.Tyr107Asp) c.436T>G (p.Tyr146Asp) c.*326T>G (n.*326T>G) c.322T>G (p.Tyr108Asp) c.220T>G (p.Tyr74Asp) | |
| 7 | g.33021291A>G | CA367192607 | NT5C3A | c.283T>C (p.Tyr95His) c.421T>C (p.Tyr141His) c.319T>C (p.Tyr107His) c.436T>C (p.Tyr146His) c.*326T>C (n.*326T>C) c.322T>C (p.Tyr108His) c.220T>C (p.Tyr74His) | |
| 7 | g.33021291A>T | CA4213438 | NT5C3A | c.283T>A (p.Tyr95Asn) c.421T>A (p.Tyr141Asn) c.319T>A (p.Tyr107Asn) c.436T>A (p.Tyr146Asn) c.*326T>A (n.*326T>A) c.322T>A (p.Tyr108Asn) c.220T>A (p.Tyr74Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33021292C>A | CA367192608 | NT5C3A | c.282G>T (p.Lys94Asn) c.420G>T (p.Lys140Asn) c.318G>T (p.Lys106Asn) c.435G>T (p.Lys145Asn) c.*325G>T (n.*325G>T) c.321G>T (p.Lys107Asn) c.219G>T (p.Lys73Asn) | |
| 7 | g.33021292C>G | CA367192609 | NT5C3A | c.282G>C (p.Lys94Asn) c.420G>C (p.Lys140Asn) c.318G>C (p.Lys106Asn) c.435G>C (p.Lys145Asn) c.*325G>C (n.*325G>C) c.321G>C (p.Lys107Asn) c.219G>C (p.Lys73Asn) | |
| 7 | g.33021292C>T | CA454342530 | NT5C3A | c.282G>A (p.Lys94=) c.420G>A (p.Lys140=) c.318G>A (p.Lys106=) c.435G>A (p.Lys145=) c.*325G>A (n.*325G>A) c.321G>A (p.Lys107=) c.219G>A (p.Lys73=) | |
| 7 | g.33021293T>A | CA367192610 | NT5C3A | c.281A>T (p.Lys94Met) c.419A>T (p.Lys140Met) c.317A>T (p.Lys106Met) c.434A>T (p.Lys145Met) c.*324A>T (n.*324A>T) c.320A>T (p.Lys107Met) c.218A>T (p.Lys73Met) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33021293T>C | CA367192611 | NT5C3A | c.281A>G (p.Lys94Arg) c.419A>G (p.Lys140Arg) c.317A>G (p.Lys106Arg) c.434A>G (p.Lys145Arg) c.*324A>G (n.*324A>G) c.320A>G (p.Lys107Arg) c.218A>G (p.Lys73Arg) | |
| 7 | g.33021293T>G | CA367192612 | NT5C3A | c.281A>C (p.Lys94Thr) c.419A>C (p.Lys140Thr) c.317A>C (p.Lys106Thr) c.434A>C (p.Lys145Thr) c.*324A>C (n.*324A>C) c.320A>C (p.Lys107Thr) c.218A>C (p.Lys73Thr) | |
| 7 | g.33021293T= | CA1698577245 | NT5C3A | c.281A= (p.Lys94=) c.419A= (p.Lys140=) c.317A= (p.Lys106=) c.434A= (p.Lys145=) c.*324A= (n.*324A=) c.320A= (p.Lys107=) c.218A= (p.Lys73=) | |
| 7 | g.33021294T>A | CA367192613 | NT5C3A | c.280A>T (p.Lys94Ter) c.418A>T (p.Lys140Ter) c.316A>T (p.Lys106Ter) c.433A>T (p.Lys145Ter) c.*323A>T (n.*323A>T) c.319A>T (p.Lys107Ter) c.217A>T (p.Lys73Ter) | |
| 7 | g.33021294T>C | CA367192614 | NT5C3A | c.280A>G (p.Lys94Glu) c.418A>G (p.Lys140Glu) c.316A>G (p.Lys106Glu) c.433A>G (p.Lys145Glu) c.*323A>G (n.*323A>G) c.319A>G (p.Lys107Glu) c.217A>G (p.Lys73Glu) | |
| 7 | g.33021294T>G | CA367192615 | NT5C3A | c.280A>C (p.Lys94Gln) c.418A>C (p.Lys140Gln) c.316A>C (p.Lys106Gln) c.433A>C (p.Lys145Gln) c.*323A>C (n.*323A>C) c.319A>C (p.Lys107Gln) c.217A>C (p.Lys73Gln) | |
| 7 | g.33021297_33021298dup | CA2682336301 | NT5C3A | c.279_280dup (p.Lys94ArgfsTer?) c.417_418dup (p.Lys140ArgfsTer?) c.315_316dup (p.Lys106ArgfsTer?) c.432_433dup (p.Lys145ArgfsTer?) c.*322_*323dup (n.*322_*323dup) c.318_319dup (p.Lys107ArgfsTer?) c.216_217dup (p.Lys73ArgfsTer?) | gnomAD v4 |
| 7 | g.33021295C>A | CA367192616 | NT5C3A | c.279G>T (p.Glu93Asp) c.417G>T (p.Glu139Asp) c.315G>T (p.Glu105Asp) c.432G>T (p.Glu144Asp) c.*322G>T (n.*322G>T) c.318G>T (p.Glu106Asp) c.216G>T (p.Glu72Asp) | |
| 7 | g.33021295C>G | CA367192617 | NT5C3A | c.279G>C (p.Glu93Asp) c.417G>C (p.Glu139Asp) c.315G>C (p.Glu105Asp) c.432G>C (p.Glu144Asp) c.*322G>C (n.*322G>C) c.318G>C (p.Glu106Asp) c.216G>C (p.Glu72Asp) | |
| 7 | g.33021295C>T | CA454342546 | NT5C3A | c.279G>A (p.Glu93=) c.417G>A (p.Glu139=) c.315G>A (p.Glu105=) c.432G>A (p.Glu144=) c.*322G>A (n.*322G>A) c.318G>A (p.Glu106=) c.216G>A (p.Glu72=) | |
| 7 | g.33021296T>A | CA367192619 | NT5C3A | c.278A>T (p.Glu93Val) c.416A>T (p.Glu139Val) c.314A>T (p.Glu105Val) c.431A>T (p.Glu144Val) c.*321A>T (n.*321A>T) c.317A>T (p.Glu106Val) c.215A>T (p.Glu72Val) | |
| 7 | g.33021296T>C | CA367192620 | NT5C3A | c.278A>G (p.Glu93Gly) c.416A>G (p.Glu139Gly) c.314A>G (p.Glu105Gly) c.431A>G (p.Glu144Gly) c.*321A>G (n.*321A>G) c.317A>G (p.Glu106Gly) c.215A>G (p.Glu72Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021296T>G | CA367192618 | NT5C3A | c.278A>C (p.Glu93Ala) c.416A>C (p.Glu139Ala) c.314A>C (p.Glu105Ala) c.431A>C (p.Glu144Ala) c.*321A>C (n.*321A>C) c.317A>C (p.Glu106Ala) c.215A>C (p.Glu72Ala) | |
| 7 | g.33021296T= | CA1698577246 | NT5C3A | c.278A= (p.Glu93=) c.416A= (p.Glu139=) c.314A= (p.Glu105=) c.431A= (p.Glu144=) c.*321A= (n.*321A=) c.317A= (p.Glu106=) c.215A= (p.Glu72=) | |
| 7 | g.33021297C>A | CA367192622 | NT5C3A | c.277G>T (p.Glu93Ter) c.415G>T (p.Glu139Ter) c.313G>T (p.Glu105Ter) c.430G>T (p.Glu144Ter) c.*320G>T (n.*320G>T) c.316G>T (p.Glu106Ter) c.214G>T (p.Glu72Ter) | gnomAD v4 |
| 7 | g.33021297C>G | CA367192621 | NT5C3A | c.277G>C (p.Glu93Gln) c.415G>C (p.Glu139Gln) c.313G>C (p.Glu105Gln) c.430G>C (p.Glu144Gln) c.*320G>C (n.*320G>C) c.316G>C (p.Glu106Gln) c.214G>C (p.Glu72Gln) | |
| 7 | g.33021297C>T | CA367192623 | NT5C3A | c.277G>A (p.Glu93Lys) c.415G>A (p.Glu139Lys) c.313G>A (p.Glu105Lys) c.430G>A (p.Glu144Lys) c.*320G>A (n.*320G>A) c.316G>A (p.Glu106Lys) c.214G>A (p.Glu72Lys) | |
| 7 | g.33021298T>A | CA367192624 | NT5C3A | c.276A>T (p.Glu92Asp) c.414A>T (p.Glu138Asp) c.312A>T (p.Glu104Asp) c.429A>T (p.Glu143Asp) c.*319A>T (n.*319A>T) c.315A>T (p.Glu105Asp) c.213A>T (p.Glu71Asp) | |
| 7 | g.33021298T>C | CA454342552 | NT5C3A | c.276A>G (p.Glu92=) c.414A>G (p.Glu138=) c.312A>G (p.Glu104=) c.429A>G (p.Glu143=) c.*319A>G (n.*319A>G) c.315A>G (p.Glu105=) c.213A>G (p.Glu71=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021298T>G | CA367192625 | NT5C3A | c.276A>C (p.Glu92Asp) c.414A>C (p.Glu138Asp) c.312A>C (p.Glu104Asp) c.429A>C (p.Glu143Asp) c.*319A>C (n.*319A>C) c.315A>C (p.Glu105Asp) c.213A>C (p.Glu71Asp) | |
| 7 | g.33021298T= | CA1698577247 | NT5C3A | c.276A= (p.Glu92=) c.414A= (p.Glu138=) c.312A= (p.Glu104=) c.429A= (p.Glu143=) c.*319A= (n.*319A=) c.315A= (p.Glu105=) c.213A= (p.Glu71=) | |
| 7 | g.33021299T>A | CA367192626 | NT5C3A | c.275A>T (p.Glu92Val) c.413A>T (p.Glu138Val) c.311A>T (p.Glu104Val) c.428A>T (p.Glu143Val) c.*318A>T (n.*318A>T) c.314A>T (p.Glu105Val) c.212A>T (p.Glu71Val) | |
| 7 | g.33021299T>C | CA367192627 | NT5C3A | c.275A>G (p.Glu92Gly) c.413A>G (p.Glu138Gly) c.311A>G (p.Glu104Gly) c.428A>G (p.Glu143Gly) c.*318A>G (n.*318A>G) c.314A>G (p.Glu105Gly) c.212A>G (p.Glu71Gly) | |
| 7 | g.33021299T>G | CA367192628 | NT5C3A | c.275A>C (p.Glu92Ala) c.413A>C (p.Glu138Ala) c.311A>C (p.Glu104Ala) c.428A>C (p.Glu143Ala) c.*318A>C (n.*318A>C) c.314A>C (p.Glu105Ala) c.212A>C (p.Glu71Ala) | |
| 7 | g.33021300C>A | CA367192629 | NT5C3A | c.274G>T (p.Glu92Ter) c.412G>T (p.Glu138Ter) c.310G>T (p.Glu104Ter) c.427G>T (p.Glu143Ter) c.*317G>T (n.*317G>T) c.313G>T (p.Glu105Ter) c.211G>T (p.Glu71Ter) | |
| 7 | g.33021300C= | CA1698577248 | NT5C3A | c.274G= (p.Glu92=) c.412G= (p.Glu138=) c.310G= (p.Glu104=) c.427G= (p.Glu143=) c.*317G= (n.*317G=) c.313G= (p.Glu105=) c.211G= (p.Glu71=) | |
| 7 | g.33021300C>G | CA367192630 | NT5C3A | c.274G>C (p.Glu92Gln) c.412G>C (p.Glu138Gln) c.310G>C (p.Glu104Gln) c.427G>C (p.Glu143Gln) c.*317G>C (n.*317G>C) c.313G>C (p.Glu105Gln) c.211G>C (p.Glu71Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33021300C>T | CA367192631 | NT5C3A | c.274G>A (p.Glu92Lys) c.412G>A (p.Glu138Lys) c.310G>A (p.Glu104Lys) c.427G>A (p.Glu143Lys) c.*317G>A (n.*317G>A) c.313G>A (p.Glu105Lys) c.211G>A (p.Glu71Lys) | |
| 7 | g.33021301T>A | CA454342557 | NT5C3A | c.273A>T (p.Val91=) c.411A>T (p.Val137=) c.309A>T (p.Val103=) c.426A>T (p.Val142=) c.*316A>T (n.*316A>T) c.312A>T (p.Val104=) c.210A>T (p.Val70=) | |
| 7 | g.33021301T>C | CA156259736 | NT5C3A | c.273A>G (p.Val91=) c.411A>G (p.Val137=) c.309A>G (p.Val103=) c.426A>G (p.Val142=) c.*316A>G (n.*316A>G) c.312A>G (p.Val104=) c.210A>G (p.Val70=) | dbSNP |
| 7 | g.33021301T>G | CA454342560 | NT5C3A | c.273A>C (p.Val91=) c.411A>C (p.Val137=) c.309A>C (p.Val103=) c.426A>C (p.Val142=) c.*316A>C (n.*316A>C) c.312A>C (p.Val104=) c.210A>C (p.Val70=) | |
| 7 | g.33021301T= | CA1698577249 | NT5C3A | c.273A= (p.Val91=) c.411A= (p.Val137=) c.309A= (p.Val103=) c.426A= (p.Val142=) c.*316A= (n.*316A=) c.312A= (p.Val104=) c.210A= (p.Val70=) | |
| 7 | g.33021302A>C | CA367192632 | NT5C3A | c.272T>G (p.Val91Gly) c.410T>G (p.Val137Gly) c.308T>G (p.Val103Gly) c.425T>G (p.Val142Gly) c.*315T>G (n.*315T>G) c.311T>G (p.Val104Gly) c.209T>G (p.Val70Gly) | gnomAD v4 |
| 7 | g.33021302A>G | CA367192634 | NT5C3A | c.272T>C (p.Val91Ala) c.410T>C (p.Val137Ala) c.308T>C (p.Val103Ala) c.425T>C (p.Val142Ala) c.*315T>C (n.*315T>C) c.311T>C (p.Val104Ala) c.209T>C (p.Val70Ala) | |
| 7 | g.33021302A>T | CA367192633 | NT5C3A | c.272T>A (p.Val91Glu) c.410T>A (p.Val137Glu) c.308T>A (p.Val103Glu) c.425T>A (p.Val142Glu) c.*315T>A (n.*315T>A) c.311T>A (p.Val104Glu) c.209T>A (p.Val70Glu) | |
| 7 | g.33021303C>A | CA367192635 | NT5C3A | c.271G>T (p.Val91Leu) c.409G>T (p.Val137Leu) c.307G>T (p.Val103Leu) c.424G>T (p.Val142Leu) c.*314G>T (n.*314G>T) c.310G>T (p.Val104Leu) c.208G>T (p.Val70Leu) | |
| 7 | g.33021303C= | CA1698577250 | NT5C3A | c.271G= (p.Val91=) c.409G= (p.Val137=) c.307G= (p.Val103=) c.424G= (p.Val142=) c.*314G= (n.*314G=) c.310G= (p.Val104=) c.208G= (p.Val70=) | |
| 7 | g.33021303C>G | CA367192636 | NT5C3A | c.271G>C (p.Val91Leu) c.409G>C (p.Val137Leu) c.307G>C (p.Val103Leu) c.424G>C (p.Val142Leu) c.*314G>C (n.*314G>C) c.310G>C (p.Val104Leu) c.208G>C (p.Val70Leu) | |
| 7 | g.33021303C>T | CA4213439 | NT5C3A | c.271G>A (p.Val91Ile) c.409G>A (p.Val137Ile) c.307G>A (p.Val103Ile) c.424G>A (p.Val142Ile) c.*314G>A (n.*314G>A) c.310G>A (p.Val104Ile) c.208G>A (p.Val70Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021304A= | CA1698577251 | NT5C3A | c.270T= (p.Thr90=) c.408T= (p.Thr136=) c.306T= (p.Thr102=) c.423T= (p.Thr141=) c.*313T= (n.*313T=) c.309T= (p.Thr103=) c.207T= (p.Thr69=) | |
| 7 | g.33021304A>C | CA454342562 | NT5C3A | c.270T>G (p.Thr90=) c.408T>G (p.Thr136=) c.306T>G (p.Thr102=) c.423T>G (p.Thr141=) c.*313T>G (n.*313T>G) c.309T>G (p.Thr103=) c.207T>G (p.Thr69=) | |
| 7 | g.33021304A>G | CA4213440 | NT5C3A | c.270T>C (p.Thr90=) c.408T>C (p.Thr136=) c.306T>C (p.Thr102=) c.423T>C (p.Thr141=) c.*313T>C (n.*313T>C) c.309T>C (p.Thr103=) c.207T>C (p.Thr69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021304A>T | CA454342565 | NT5C3A | c.270T>A (p.Thr90=) c.408T>A (p.Thr136=) c.306T>A (p.Thr102=) c.423T>A (p.Thr141=) c.*313T>A (n.*313T>A) c.309T>A (p.Thr103=) c.207T>A (p.Thr69=) | |
| 7 | g.33021304_33021305delinsAG | CA1698577252 | NT5C3A | c.269_270delinsCT (p.Thr90=) c.407_408delinsCT (p.Thr136=) c.305_306delinsCT (p.Thr102=) c.422_423delinsCT (p.Thr141=) c.*312_*313delinsCT (n.*312_*313delinsCT) c.308_309delinsCT (p.Thr103=) c.206_207delinsCT (p.Thr69=) | |
| 7 | g.33021305del | CA1698577253 | NT5C3A | c.269del (p.Thr90MetfsTer2) c.407del (p.Thr136MetfsTer2) c.305del (p.Thr102MetfsTer2) c.422del (p.Thr141MetfsTer2) c.*312del (n.*312del) c.308del (p.Thr103MetfsTer2) c.206del (p.Thr69MetfsTer2) | dbSNP |
| 7 | g.33021305G>A | CA156259753 | NT5C3A | c.269C>T (p.Thr90Ile) c.407C>T (p.Thr136Ile) c.305C>T (p.Thr102Ile) c.422C>T (p.Thr141Ile) c.*312C>T (n.*312C>T) c.308C>T (p.Thr103Ile) c.206C>T (p.Thr69Ile) | dbSNP gnomAD v4 |
| 7 | g.33021305G>C | CA367192638 | NT5C3A | c.269C>G (p.Thr90Ser) c.407C>G (p.Thr136Ser) c.305C>G (p.Thr102Ser) c.422C>G (p.Thr141Ser) c.*312C>G (n.*312C>G) c.308C>G (p.Thr103Ser) c.206C>G (p.Thr69Ser) | gnomAD v4 |
| 7 | g.33021305G= | CA1698577254 | NT5C3A | c.269C= (p.Thr90=) c.407C= (p.Thr136=) c.305C= (p.Thr102=) c.422C= (p.Thr141=) c.*312C= (n.*312C=) c.308C= (p.Thr103=) c.206C= (p.Thr69=) | |
| 7 | g.33021305G>T | CA367192637 | NT5C3A | c.269C>A (p.Thr90Asn) c.407C>A (p.Thr136Asn) c.305C>A (p.Thr102Asn) c.422C>A (p.Thr141Asn) c.*312C>A (n.*312C>A) c.308C>A (p.Thr103Asn) c.206C>A (p.Thr69Asn) | |
| 7 | g.33021306T>A | CA367192642 | NT5C3A | c.268A>T (p.Thr90Ser) c.406A>T (p.Thr136Ser) c.304A>T (p.Thr102Ser) c.421A>T (p.Thr141Ser) c.*311A>T (n.*311A>T) c.307A>T (p.Thr103Ser) c.205A>T (p.Thr69Ser) | |
| 7 | g.33021306T>C | CA4213441 | NT5C3A | c.268A>G (p.Thr90Ala) c.406A>G (p.Thr136Ala) c.304A>G (p.Thr102Ala) c.421A>G (p.Thr141Ala) c.*311A>G (n.*311A>G) c.307A>G (p.Thr103Ala) c.205A>G (p.Thr69Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021306T>G | CA367192645 | NT5C3A | c.268A>C (p.Thr90Pro) c.406A>C (p.Thr136Pro) c.304A>C (p.Thr102Pro) c.421A>C (p.Thr141Pro) c.*311A>C (n.*311A>C) c.307A>C (p.Thr103Pro) c.205A>C (p.Thr69Pro) | |
| 7 | g.33021306T= | CA1698577255 | NT5C3A | c.268A= (p.Thr90=) c.406A= (p.Thr136=) c.304A= (p.Thr102=) c.421A= (p.Thr141=) c.*311A= (n.*311A=) c.307A= (p.Thr103=) c.205A= (p.Thr69=) | |
| 7 | g.33021306dup | CA573519179 | NT5C3A | c.268dup (p.Thr90AsnfsTer15) c.406dup (p.Thr136AsnfsTer15) c.304dup (p.Thr102AsnfsTer15) c.421dup (p.Thr141AsnfsTer15) c.*311dup (n.*311dup) c.307dup (p.Thr103AsnfsTer15) c.205dup (p.Thr69AsnfsTer15) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021307A= | CA1698577256 | NT5C3A | c.267T= (p.Leu89=) c.405T= (p.Leu135=) c.303T= (p.Leu101=) c.420T= (p.Leu140=) c.*310T= (n.*310T=) c.306T= (p.Leu102=) c.204T= (p.Leu68=) | |
| 7 | g.33021307A>C | CA4213443 | NT5C3A | c.267T>G (p.Leu89=) c.405T>G (p.Leu135=) c.303T>G (p.Leu101=) c.420T>G (p.Leu140=) c.*310T>G (n.*310T>G) c.306T>G (p.Leu102=) c.204T>G (p.Leu68=) | dbSNP ExAC |
| 7 | g.33021307A>G | CA4213442 | NT5C3A | c.267T>C (p.Leu89=) c.405T>C (p.Leu135=) c.303T>C (p.Leu101=) c.420T>C (p.Leu140=) c.*310T>C (n.*310T>C) c.306T>C (p.Leu102=) c.204T>C (p.Leu68=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33021307A>T | CA454342571 | NT5C3A | c.267T>A (p.Leu89=) c.405T>A (p.Leu135=) c.303T>A (p.Leu101=) c.420T>A (p.Leu140=) c.*310T>A (n.*310T>A) c.306T>A (p.Leu102=) c.204T>A (p.Leu68=) | |
| 7 | g.33021308A>C | CA367192651 | NT5C3A | c.266T>G (p.Leu89Arg) c.404T>G (p.Leu135Arg) c.302T>G (p.Leu101Arg) c.419T>G (p.Leu140Arg) c.*309T>G (n.*309T>G) c.305T>G (p.Leu102Arg) c.203T>G (p.Leu68Arg) | |
| 7 | g.33021308A>G | CA367192653 | NT5C3A | c.266T>C (p.Leu89Pro) c.404T>C (p.Leu135Pro) c.302T>C (p.Leu101Pro) c.419T>C (p.Leu140Pro) c.*309T>C (n.*309T>C) c.305T>C (p.Leu102Pro) c.203T>C (p.Leu68Pro) | |
| 7 | g.33021308A>T | CA367192655 | NT5C3A | c.266T>A (p.Leu89His) c.404T>A (p.Leu135His) c.302T>A (p.Leu101His) c.419T>A (p.Leu140His) c.*309T>A (n.*309T>A) c.305T>A (p.Leu102His) c.203T>A (p.Leu68His) | |
| 7 | g.33021309G>A | CA367192658 | NT5C3A | c.265C>T (p.Leu89Phe) c.403C>T (p.Leu135Phe) c.301C>T (p.Leu101Phe) c.418C>T (p.Leu140Phe) c.*308C>T (n.*308C>T) c.304C>T (p.Leu102Phe) c.202C>T (p.Leu68Phe) | |
| 7 | g.33021309G>C | CA367192660 | NT5C3A | c.265C>G (p.Leu89Val) c.403C>G (p.Leu135Val) c.301C>G (p.Leu101Val) c.418C>G (p.Leu140Val) c.*308C>G (n.*308C>G) c.304C>G (p.Leu102Val) c.202C>G (p.Leu68Val) | |
| 7 | g.33021309G>T | CA367192661 | NT5C3A | c.265C>A (p.Leu89Ile) c.403C>A (p.Leu135Ile) c.301C>A (p.Leu101Ile) c.418C>A (p.Leu140Ile) c.*308C>A (n.*308C>A) c.304C>A (p.Leu102Ile) c.202C>A (p.Leu68Ile) | ClinVar |
| 7 | g.33021310A>C | CA454342577 | NT5C3A | c.264T>G (p.Val88=) c.402T>G (p.Val134=) c.300T>G (p.Val100=) c.417T>G (p.Val139=) c.*307T>G (n.*307T>G) c.303T>G (p.Val101=) c.201T>G (p.Val67=) | |
| 7 | g.33021310A>G | CA454342578 | NT5C3A | c.264T>C (p.Val88=) c.402T>C (p.Val134=) c.300T>C (p.Val100=) c.417T>C (p.Val139=) c.*307T>C (n.*307T>C) c.303T>C (p.Val101=) c.201T>C (p.Val67=) | |
| 7 | g.33021310A>T | CA454342579 | NT5C3A | c.264T>A (p.Val88=) c.402T>A (p.Val134=) c.300T>A (p.Val100=) c.417T>A (p.Val139=) c.*307T>A (n.*307T>A) c.303T>A (p.Val101=) c.201T>A (p.Val67=) | |
| 7 | g.33021311A= | CA1698577257 | NT5C3A | c.263T= (p.Val88=) c.401T= (p.Val134=) c.299T= (p.Val100=) c.416T= (p.Val139=) c.*306T= (n.*306T=) c.302T= (p.Val101=) c.200T= (p.Val67=) | |
| 7 | g.33021311A>C | CA367192663 | NT5C3A | c.263T>G (p.Val88Gly) c.401T>G (p.Val134Gly) c.299T>G (p.Val100Gly) c.416T>G (p.Val139Gly) c.*306T>G (n.*306T>G) c.302T>G (p.Val101Gly) c.200T>G (p.Val67Gly) | |
| 7 | g.33021311A>G | CA156259780 | NT5C3A | c.263T>C (p.Val88Ala) c.401T>C (p.Val134Ala) c.299T>C (p.Val100Ala) c.416T>C (p.Val139Ala) c.*306T>C (n.*306T>C) c.302T>C (p.Val101Ala) c.200T>C (p.Val67Ala) | dbSNP |
| 7 | g.33021311A>T | CA367192665 | NT5C3A | c.263T>A (p.Val88Asp) c.401T>A (p.Val134Asp) c.299T>A (p.Val100Asp) c.416T>A (p.Val139Asp) c.*306T>A (n.*306T>A) c.302T>A (p.Val101Asp) c.200T>A (p.Val67Asp) | dbSNP |
| 7 | g.33021312C>A | CA367192669 | NT5C3A | c.262G>T (p.Val88Phe) c.400G>T (p.Val134Phe) c.298G>T (p.Val100Phe) c.415G>T (p.Val139Phe) c.*305G>T (n.*305G>T) c.301G>T (p.Val101Phe) c.199G>T (p.Val67Phe) | |
| 7 | g.33021312C>G | CA367192671 | NT5C3A | c.262G>C (p.Val88Leu) c.400G>C (p.Val134Leu) c.298G>C (p.Val100Leu) c.415G>C (p.Val139Leu) c.*305G>C (n.*305G>C) c.301G>C (p.Val101Leu) c.199G>C (p.Val67Leu) | |
| 7 | g.33021312C>T | CA367192672 | NT5C3A | c.262G>A (p.Val88Ile) c.400G>A (p.Val134Ile) c.298G>A (p.Val100Ile) c.415G>A (p.Val139Ile) c.*305G>A (n.*305G>A) c.301G>A (p.Val101Ile) c.199G>A (p.Val67Ile) | |
| 7 | g.33021313A= | CA1698577258 | NT5C3A | c.261T= (p.Pro87=) c.399T= (p.Pro133=) c.297T= (p.Pro99=) c.414T= (p.Pro138=) c.*304T= (n.*304T=) c.300T= (p.Pro100=) c.198T= (p.Pro66=) | |
| 7 | g.33021313A>C | CA454342585 | NT5C3A | c.261T>G (p.Pro87=) c.399T>G (p.Pro133=) c.297T>G (p.Pro99=) c.414T>G (p.Pro138=) c.*304T>G (n.*304T>G) c.300T>G (p.Pro100=) c.198T>G (p.Pro66=) | |
| 7 | g.33021313A>G | CA454342582 | NT5C3A | c.261T>C (p.Pro87=) c.399T>C (p.Pro133=) c.297T>C (p.Pro99=) c.414T>C (p.Pro138=) c.*304T>C (n.*304T>C) c.300T>C (p.Pro100=) c.198T>C (p.Pro66=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33021313A>T | CA454342587 | NT5C3A | c.261T>A (p.Pro87=) c.399T>A (p.Pro133=) c.297T>A (p.Pro99=) c.414T>A (p.Pro138=) c.*304T>A (n.*304T>A) c.300T>A (p.Pro100=) c.198T>A (p.Pro66=) | |
| 7 | g.33021314G>A | CA367192676 | NT5C3A | c.260C>T (p.Pro87Leu) c.398C>T (p.Pro133Leu) c.296C>T (p.Pro99Leu) c.413C>T (p.Pro138Leu) c.*303C>T (n.*303C>T) c.299C>T (p.Pro100Leu) c.197C>T (p.Pro66Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 7 | g.33021314G>C | CA367192678 | NT5C3A | c.260C>G (p.Pro87Arg) c.398C>G (p.Pro133Arg) c.296C>G (p.Pro99Arg) c.413C>G (p.Pro138Arg) c.*303C>G (n.*303C>G) c.299C>G (p.Pro100Arg) c.197C>G (p.Pro66Arg) | |
| 7 | g.33021314G= | CA1698577259 | NT5C3A | c.260C= (p.Pro87=) c.398C= (p.Pro133=) c.296C= (p.Pro99=) c.413C= (p.Pro138=) c.*303C= (n.*303C=) c.299C= (p.Pro100=) c.197C= (p.Pro66=) | |
| 7 | g.33021314G>T | CA367192680 | NT5C3A | c.260C>A (p.Pro87His) c.398C>A (p.Pro133His) c.296C>A (p.Pro99His) c.413C>A (p.Pro138His) c.*303C>A (n.*303C>A) c.299C>A (p.Pro100His) c.197C>A (p.Pro66His) | |
| 7 | g.33021315G>A | CA367192683 | NT5C3A | c.259C>T (p.Pro87Ser) c.397C>T (p.Pro133Ser) c.295C>T (p.Pro99Ser) c.412C>T (p.Pro138Ser) c.*302C>T (n.*302C>T) c.298C>T (p.Pro100Ser) c.196C>T (p.Pro66Ser) | |
| 7 | g.33021315G>C | CA367192685 | NT5C3A | c.259C>G (p.Pro87Ala) c.397C>G (p.Pro133Ala) c.295C>G (p.Pro99Ala) c.412C>G (p.Pro138Ala) c.*302C>G (n.*302C>G) c.298C>G (p.Pro100Ala) c.196C>G (p.Pro66Ala) | |
| 7 | g.33021315G>T | CA367192687 | NT5C3A | c.259C>A (p.Pro87Thr) c.397C>A (p.Pro133Thr) c.295C>A (p.Pro99Thr) c.412C>A (p.Pro138Thr) c.*302C>A (n.*302C>A) c.298C>A (p.Pro100Thr) c.196C>A (p.Pro66Thr) | |
| 7 | g.33021316A= | CA1698577260 | NT5C3A | c.258T= (p.Asp86=) c.396T= (p.Asp132=) c.294T= (p.Asp98=) c.411T= (p.Asp137=) c.*301T= (n.*301T=) c.297T= (p.Asp99=) c.195T= (p.Asp65=) | |
| 7 | g.33021316A>C | CA367192690 | NT5C3A | c.258T>G (p.Asp86Glu) c.396T>G (p.Asp132Glu) c.294T>G (p.Asp98Glu) c.411T>G (p.Asp137Glu) c.*301T>G (n.*301T>G) c.297T>G (p.Asp99Glu) c.195T>G (p.Asp65Glu) | |
| 7 | g.33021316A>G | CA454342591 | NT5C3A | c.258T>C (p.Asp86=) c.396T>C (p.Asp132=) c.294T>C (p.Asp98=) c.411T>C (p.Asp137=) c.*301T>C (n.*301T>C) c.297T>C (p.Asp99=) c.195T>C (p.Asp65=) | |
| 7 | g.33021316A>T | CA367192692 | NT5C3A | c.258T>A (p.Asp86Glu) c.396T>A (p.Asp132Glu) c.294T>A (p.Asp98Glu) c.411T>A (p.Asp137Glu) c.*301T>A (n.*301T>A) c.297T>A (p.Asp99Glu) c.195T>A (p.Asp65Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33021317T>A | CA116881 | NT5C3A | c.257A>T (p.Asp86Val) c.395A>T (p.Asp132Val) c.293A>T (p.Asp98Val) c.410A>T (p.Asp137Val) c.*300A>T (n.*300A>T) c.296A>T (p.Asp99Val) c.194A>T (p.Asp65Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33021317T>C | CA367192697 | NT5C3A | c.257A>G (p.Asp86Gly) c.395A>G (p.Asp132Gly) c.293A>G (p.Asp98Gly) c.410A>G (p.Asp137Gly) c.*300A>G (n.*300A>G) c.296A>G (p.Asp99Gly) c.194A>G (p.Asp65Gly) | |
| 7 | g.33021317T>G | CA367192695 | NT5C3A | c.257A>C (p.Asp86Ala) c.395A>C (p.Asp132Ala) c.293A>C (p.Asp98Ala) c.410A>C (p.Asp137Ala) c.*300A>C (n.*300A>C) c.296A>C (p.Asp99Ala) c.194A>C (p.Asp65Ala) | |
| 7 | g.33021317T= | CA1698577261 | NT5C3A | c.257A= (p.Asp86=) c.395A= (p.Asp132=) c.293A= (p.Asp98=) c.410A= (p.Asp137=) c.*300A= (n.*300A=) c.296A= (p.Asp99=) c.194A= (p.Asp65=) | |
| 7 | g.33021318C>A | CA367192701 | NT5C3A | c.256G>T (p.Asp86Tyr) c.394G>T (p.Asp132Tyr) c.292G>T (p.Asp98Tyr) c.409G>T (p.Asp137Tyr) c.*299G>T (n.*299G>T) c.295G>T (p.Asp99Tyr) c.193G>T (p.Asp65Tyr) | gnomAD v4 |
| 7 | g.33021318C= | CA1698577262 | NT5C3A | c.256G= (p.Asp86=) c.394G= (p.Asp132=) c.292G= (p.Asp98=) c.409G= (p.Asp137=) c.*299G= (n.*299G=) c.295G= (p.Asp99=) c.193G= (p.Asp65=) | |
| 7 | g.33021318C>G | CA367192703 | NT5C3A | c.256G>C (p.Asp86His) c.394G>C (p.Asp132His) c.292G>C (p.Asp98His) c.409G>C (p.Asp137His) c.*299G>C (n.*299G>C) c.295G>C (p.Asp99His) c.193G>C (p.Asp65His) | COSMIC COSMIC |
| 7 | g.33021318C>T | CA367192705 | NT5C3A | c.256G>A (p.Asp86Asn) c.394G>A (p.Asp132Asn) c.292G>A (p.Asp98Asn) c.409G>A (p.Asp137Asn) c.*299G>A (n.*299G>A) c.295G>A (p.Asp99Asn) c.193G>A (p.Asp65Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |