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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.128400963_128400965del | CA2684778644 | IMPDH1 | c.396+53_396+55del (n.396+53_396+55del) n.360+53_360+55del c.504+53_504+55del (n.504+53_504+55del) c.151+53_151+55del c.474+53_474+55del (n.474+53_474+55del) c.405+53_405+55del (n.405+53_405+55del) c.250+53_250+55del c.249+53_249+55del (n.249+53_249+55del) c.*250+53_*250+55del (n.*250+53_*250+55del) c.360+53_360+55del (n.360+53_360+55del) c.297+53_297+55del (n.297+53_297+55del) n.673+53_673+55del n.324+53_324+55del c.273+53_273+55del (n.273+53_273+55del) | gnomAD v4 |
| 7 | g.128400965A= | CA1742334587 | IMPDH1 | c.396+50T= (n.396+50T=) n.360+50T= c.504+50T= (n.504+50T=) c.151+50T= c.474+50T= (n.474+50T=) c.405+50T= (n.405+50T=) c.250+50T= c.249+50T= (n.249+50T=) c.*250+50T= (n.*250+50T=) c.360+50T= (n.360+50T=) c.297+50T= (n.297+50T=) n.673+50T= n.324+50T= c.273+50T= (n.273+50T=) | |
| 7 | g.128400965A>G | CA4471138 | IMPDH1 | c.396+50T>C (n.396+50T>C) n.360+50T>C c.504+50T>C (n.504+50T>C) c.151+50T>C c.474+50T>C (n.474+50T>C) c.405+50T>C (n.405+50T>C) c.250+50T>C c.249+50T>C (n.249+50T>C) c.*250+50T>C (n.*250+50T>C) c.360+50T>C (n.360+50T>C) c.297+50T>C (n.297+50T>C) n.673+50T>C n.324+50T>C c.273+50T>C (n.273+50T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128400966T>C | CA166129389 | IMPDH1 | c.396+49A>G (n.396+49A>G) n.360+49A>G c.504+49A>G (n.504+49A>G) c.151+49A>G c.474+49A>G (n.474+49A>G) c.405+49A>G (n.405+49A>G) c.250+49A>G c.249+49A>G (n.249+49A>G) c.*250+49A>G (n.*250+49A>G) c.360+49A>G (n.360+49A>G) c.297+49A>G (n.297+49A>G) n.673+49A>G n.324+49A>G c.273+49A>G (n.273+49A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.128400966T= | CA1742334594 | IMPDH1 | c.396+49A= (n.396+49A=) n.360+49A= c.504+49A= (n.504+49A=) c.151+49A= c.474+49A= (n.474+49A=) c.405+49A= (n.405+49A=) c.250+49A= c.249+49A= (n.249+49A=) c.*250+49A= (n.*250+49A=) c.360+49A= (n.360+49A=) c.297+49A= (n.297+49A=) n.673+49A= n.324+49A= c.273+49A= (n.273+49A=) | |
| 7 | g.128400967G>A | CA4471139 | IMPDH1 | c.396+48C>T (n.396+48C>T) n.360+48C>T c.504+48C>T (n.504+48C>T) c.151+48C>T c.474+48C>T (n.474+48C>T) c.405+48C>T (n.405+48C>T) c.250+48C>T c.249+48C>T (n.249+48C>T) c.*250+48C>T (n.*250+48C>T) c.360+48C>T (n.360+48C>T) c.297+48C>T (n.297+48C>T) n.673+48C>T n.324+48C>T c.273+48C>T (n.273+48C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.128400967G= | CA1742334597 | IMPDH1 | c.396+48C= (n.396+48C=) n.360+48C= c.504+48C= (n.504+48C=) c.151+48C= c.474+48C= (n.474+48C=) c.405+48C= (n.405+48C=) c.250+48C= c.249+48C= (n.249+48C=) c.*250+48C= (n.*250+48C=) c.360+48C= (n.360+48C=) c.297+48C= (n.297+48C=) n.673+48C= n.324+48C= c.273+48C= (n.273+48C=) | |
| 7 | g.128400967G>T | CA2684778649 | IMPDH1 | c.396+48C>A (n.396+48C>A) n.360+48C>A c.504+48C>A (n.504+48C>A) c.151+48C>A c.474+48C>A (n.474+48C>A) c.405+48C>A (n.405+48C>A) c.250+48C>A c.249+48C>A (n.249+48C>A) c.*250+48C>A (n.*250+48C>A) c.360+48C>A (n.360+48C>A) c.297+48C>A (n.297+48C>A) n.673+48C>A n.324+48C>A c.273+48C>A (n.273+48C>A) | gnomAD v4 |
| 7 | g.128400968del | CA2579011342 | IMPDH1 | c.396+48del (n.396+48del) n.360+48del c.504+48del (n.504+48del) c.151+48del c.474+48del (n.474+48del) c.405+48del (n.405+48del) c.250+48del c.249+48del (n.249+48del) c.*250+48del (n.*250+48del) c.360+48del (n.360+48del) c.297+48del (n.297+48del) n.673+48del n.324+48del c.273+48del (n.273+48del) | |
| 7 | g.128400968G= | CA1742334598 | IMPDH1 | c.396+47C= (n.396+47C=) n.360+47C= c.504+47C= (n.504+47C=) c.151+47C= c.474+47C= (n.474+47C=) c.405+47C= (n.405+47C=) c.250+47C= c.249+47C= (n.249+47C=) c.*250+47C= (n.*250+47C=) c.360+47C= (n.360+47C=) c.297+47C= (n.297+47C=) n.673+47C= n.324+47C= c.273+47C= (n.273+47C=) | |
| 7 | g.128400968G>T | CA4471140 | IMPDH1 | c.396+47C>A (n.396+47C>A) n.360+47C>A c.504+47C>A (n.504+47C>A) c.151+47C>A c.474+47C>A (n.474+47C>A) c.405+47C>A (n.405+47C>A) c.250+47C>A c.249+47C>A (n.249+47C>A) c.*250+47C>A (n.*250+47C>A) c.360+47C>A (n.360+47C>A) c.297+47C>A (n.297+47C>A) n.673+47C>A n.324+47C>A c.273+47C>A (n.273+47C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128400969T>C | CA4471141 | IMPDH1 | c.396+46A>G (n.396+46A>G) n.360+46A>G c.504+46A>G (n.504+46A>G) c.151+46A>G c.474+46A>G (n.474+46A>G) c.405+46A>G (n.405+46A>G) c.250+46A>G c.249+46A>G (n.249+46A>G) c.*250+46A>G (n.*250+46A>G) c.360+46A>G (n.360+46A>G) c.297+46A>G (n.297+46A>G) n.673+46A>G n.324+46A>G c.273+46A>G (n.273+46A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128400969T= | CA1742334603 | IMPDH1 | c.396+46A= (n.396+46A=) n.360+46A= c.504+46A= (n.504+46A=) c.151+46A= c.474+46A= (n.474+46A=) c.405+46A= (n.405+46A=) c.250+46A= c.249+46A= (n.249+46A=) c.*250+46A= (n.*250+46A=) c.360+46A= (n.360+46A=) c.297+46A= (n.297+46A=) n.673+46A= n.324+46A= c.273+46A= (n.273+46A=) | |
| 7 | g.128400971_128400975dup | CA1107043019 | IMPDH1 | c.396+42_396+46dup (n.396+42_396+46dup) n.360+42_360+46dup c.504+42_504+46dup (n.504+42_504+46dup) c.151+42_151+46dup c.474+42_474+46dup (n.474+42_474+46dup) c.405+42_405+46dup (n.405+42_405+46dup) c.250+42_250+46dup c.249+42_249+46dup (n.249+42_249+46dup) c.*250+42_*250+46dup (n.*250+42_*250+46dup) c.360+42_360+46dup (n.360+42_360+46dup) c.297+42_297+46dup (n.297+42_297+46dup) n.673+42_673+46dup n.324+42_324+46dup c.273+42_273+46dup (n.273+42_273+46dup) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.128400972G>A | CA4471142 | IMPDH1 | c.396+43C>T (n.396+43C>T) n.360+43C>T c.504+43C>T (n.504+43C>T) c.151+43C>T c.474+43C>T (n.474+43C>T) c.405+43C>T (n.405+43C>T) c.250+43C>T c.249+43C>T (n.249+43C>T) c.*250+43C>T (n.*250+43C>T) c.360+43C>T (n.360+43C>T) c.297+43C>T (n.297+43C>T) n.673+43C>T n.324+43C>T c.273+43C>T (n.273+43C>T) | dbSNP ExAC gnomAD v2 |
| 7 | g.128400972G= | CA1742334612 | IMPDH1 | c.396+43C= (n.396+43C=) n.360+43C= c.504+43C= (n.504+43C=) c.151+43C= c.474+43C= (n.474+43C=) c.405+43C= (n.405+43C=) c.250+43C= c.249+43C= (n.249+43C=) c.*250+43C= (n.*250+43C=) c.360+43C= (n.360+43C=) c.297+43C= (n.297+43C=) n.673+43C= n.324+43C= c.273+43C= (n.273+43C=) | |
| 7 | g.128400977T>C | CA4471143 | IMPDH1 | c.396+38A>G (n.396+38A>G) n.360+38A>G c.504+38A>G (n.504+38A>G) c.151+38A>G c.474+38A>G (n.474+38A>G) c.405+38A>G (n.405+38A>G) c.250+38A>G c.249+38A>G (n.249+38A>G) c.*250+38A>G (n.*250+38A>G) c.360+38A>G (n.360+38A>G) c.297+38A>G (n.297+38A>G) n.673+38A>G n.324+38A>G c.273+38A>G (n.273+38A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128400977T= | CA1742334616 | IMPDH1 | c.396+38A= (n.396+38A=) n.360+38A= c.504+38A= (n.504+38A=) c.151+38A= c.474+38A= (n.474+38A=) c.405+38A= (n.405+38A=) c.250+38A= c.249+38A= (n.249+38A=) c.*250+38A= (n.*250+38A=) c.360+38A= (n.360+38A=) c.297+38A= (n.297+38A=) n.673+38A= n.324+38A= c.273+38A= (n.273+38A=) | |
| 7 | g.128400978G>A | CA4471144 | IMPDH1 | c.396+37C>T (n.396+37C>T) n.360+37C>T c.504+37C>T (n.504+37C>T) c.151+37C>T c.474+37C>T (n.474+37C>T) c.405+37C>T (n.405+37C>T) c.250+37C>T c.249+37C>T (n.249+37C>T) c.*250+37C>T (n.*250+37C>T) c.360+37C>T (n.360+37C>T) c.297+37C>T (n.297+37C>T) n.673+37C>T n.324+37C>T c.273+37C>T (n.273+37C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128400978G>C | CA2684778654 | IMPDH1 | c.396+37C>G (n.396+37C>G) n.360+37C>G c.504+37C>G (n.504+37C>G) c.151+37C>G c.474+37C>G (n.474+37C>G) c.405+37C>G (n.405+37C>G) c.250+37C>G c.249+37C>G (n.249+37C>G) c.*250+37C>G (n.*250+37C>G) c.360+37C>G (n.360+37C>G) c.297+37C>G (n.297+37C>G) n.673+37C>G n.324+37C>G c.273+37C>G (n.273+37C>G) | gnomAD v4 |
| 7 | g.128400978G= | CA1742334621 | IMPDH1 | c.396+37C= (n.396+37C=) n.360+37C= c.504+37C= (n.504+37C=) c.151+37C= c.474+37C= (n.474+37C=) c.405+37C= (n.405+37C=) c.250+37C= c.249+37C= (n.249+37C=) c.*250+37C= (n.*250+37C=) c.360+37C= (n.360+37C=) c.297+37C= (n.297+37C=) n.673+37C= n.324+37C= c.273+37C= (n.273+37C=) | |
| 7 | g.128400979T>G | CA4471145 | IMPDH1 | c.396+36A>C (n.396+36A>C) n.360+36A>C c.504+36A>C (n.504+36A>C) c.151+36A>C c.474+36A>C (n.474+36A>C) c.405+36A>C (n.405+36A>C) c.250+36A>C c.249+36A>C (n.249+36A>C) c.*250+36A>C (n.*250+36A>C) c.360+36A>C (n.360+36A>C) c.297+36A>C (n.297+36A>C) n.673+36A>C n.324+36A>C c.273+36A>C (n.273+36A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.128400979T= | CA1742334623 | IMPDH1 | c.396+36A= (n.396+36A=) n.360+36A= c.504+36A= (n.504+36A=) c.151+36A= c.474+36A= (n.474+36A=) c.405+36A= (n.405+36A=) c.250+36A= c.249+36A= (n.249+36A=) c.*250+36A= (n.*250+36A=) c.360+36A= (n.360+36A=) c.297+36A= (n.297+36A=) n.673+36A= n.324+36A= c.273+36A= (n.273+36A=) | |
| 7 | g.128400980G>A | CA4471146 | IMPDH1 | c.396+35C>T (n.396+35C>T) n.360+35C>T c.504+35C>T (n.504+35C>T) c.151+35C>T c.474+35C>T (n.474+35C>T) c.405+35C>T (n.405+35C>T) c.250+35C>T c.249+35C>T (n.249+35C>T) c.*250+35C>T (n.*250+35C>T) c.360+35C>T (n.360+35C>T) c.297+35C>T (n.297+35C>T) n.673+35C>T n.324+35C>T c.273+35C>T (n.273+35C>T) | dbSNP ExAC gnomAD v4 |
| 7 | g.128400980G= | CA1742334625 | IMPDH1 | c.396+35C= (n.396+35C=) n.360+35C= c.504+35C= (n.504+35C=) c.151+35C= c.474+35C= (n.474+35C=) c.405+35C= (n.405+35C=) c.250+35C= c.249+35C= (n.249+35C=) c.*250+35C= (n.*250+35C=) c.360+35C= (n.360+35C=) c.297+35C= (n.297+35C=) n.673+35C= n.324+35C= c.273+35C= (n.273+35C=) | |
| 7 | g.128400980G>T | CA2579011343 | IMPDH1 | c.396+35C>A (n.396+35C>A) n.360+35C>A c.504+35C>A (n.504+35C>A) c.151+35C>A c.474+35C>A (n.474+35C>A) c.405+35C>A (n.405+35C>A) c.250+35C>A c.249+35C>A (n.249+35C>A) c.*250+35C>A (n.*250+35C>A) c.360+35C>A (n.360+35C>A) c.297+35C>A (n.297+35C>A) n.673+35C>A n.324+35C>A c.273+35C>A (n.273+35C>A) | |
| 7 | g.128400982G>A | CA578149298 | IMPDH1 | c.396+33C>T (n.396+33C>T) n.360+33C>T c.504+33C>T (n.504+33C>T) c.151+33C>T c.474+33C>T (n.474+33C>T) c.405+33C>T (n.405+33C>T) c.250+33C>T c.249+33C>T (n.249+33C>T) c.*250+33C>T (n.*250+33C>T) c.360+33C>T (n.360+33C>T) c.297+33C>T (n.297+33C>T) n.673+33C>T n.324+33C>T c.273+33C>T (n.273+33C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.128400982G= | CA1742334631 | IMPDH1 | c.396+33C= (n.396+33C=) n.360+33C= c.504+33C= (n.504+33C=) c.151+33C= c.474+33C= (n.474+33C=) c.405+33C= (n.405+33C=) c.250+33C= c.249+33C= (n.249+33C=) c.*250+33C= (n.*250+33C=) c.360+33C= (n.360+33C=) c.297+33C= (n.297+33C=) n.673+33C= n.324+33C= c.273+33C= (n.273+33C=) | |
| 7 | g.128400982G>T | CA2684778658 | IMPDH1 | c.396+33C>A (n.396+33C>A) n.360+33C>A c.504+33C>A (n.504+33C>A) c.151+33C>A c.474+33C>A (n.474+33C>A) c.405+33C>A (n.405+33C>A) c.250+33C>A c.249+33C>A (n.249+33C>A) c.*250+33C>A (n.*250+33C>A) c.360+33C>A (n.360+33C>A) c.297+33C>A (n.297+33C>A) n.673+33C>A n.324+33C>A c.273+33C>A (n.273+33C>A) | gnomAD v4 |
| 7 | g.128400982_128400983delinsCG | CA1742334635 | IMPDH1 | c.396+32_396+33delinsCG (n.396+32_396+33delinsCG) n.360+32_360+33delinsCG c.504+32_504+33delinsCG (n.504+32_504+33delinsCG) c.151+32_151+33delinsCG c.474+32_474+33delinsCG (n.474+32_474+33delinsCG) c.405+32_405+33delinsCG (n.405+32_405+33delinsCG) c.250+32_250+33delinsCG c.249+32_249+33delinsCG (n.249+32_249+33delinsCG) c.*250+32_*250+33delinsCG (n.*250+32_*250+33delinsCG) c.360+32_360+33delinsCG (n.360+32_360+33delinsCG) c.297+32_297+33delinsCG (n.297+32_297+33delinsCG) n.673+32_673+33delinsCG n.324+32_324+33delinsCG c.273+32_273+33delinsCG (n.273+32_273+33delinsCG) | dbSNP |
| 7 | g.128400982_128400983delinsGC | CA1742334633 | IMPDH1 | c.396+32_396+33delinsGC (n.396+32_396+33delinsGC) n.360+32_360+33delinsGC c.504+32_504+33delinsGC (n.504+32_504+33delinsGC) c.151+32_151+33delinsGC c.474+32_474+33delinsGC (n.474+32_474+33delinsGC) c.405+32_405+33delinsGC (n.405+32_405+33delinsGC) c.250+32_250+33delinsGC c.249+32_249+33delinsGC (n.249+32_249+33delinsGC) c.*250+32_*250+33delinsGC (n.*250+32_*250+33delinsGC) c.360+32_360+33delinsGC (n.360+32_360+33delinsGC) c.297+32_297+33delinsGC (n.297+32_297+33delinsGC) n.673+32_673+33delinsGC n.324+32_324+33delinsGC c.273+32_273+33delinsGC (n.273+32_273+33delinsGC) | |
| 7 | g.128400983C= | CA1742334643 | IMPDH1 | c.396+32G= (n.396+32G=) n.360+32G= c.504+32G= (n.504+32G=) c.151+32G= c.474+32G= (n.474+32G=) c.405+32G= (n.405+32G=) c.250+32G= c.249+32G= (n.249+32G=) c.*250+32G= (n.*250+32G=) c.360+32G= (n.360+32G=) c.297+32G= (n.297+32G=) n.673+32G= n.324+32G= c.273+32G= (n.273+32G=) | |
| 7 | g.128400983C>T | CA578149299 | IMPDH1 | c.396+32G>A (n.396+32G>A) n.360+32G>A c.504+32G>A (n.504+32G>A) c.151+32G>A c.474+32G>A (n.474+32G>A) c.405+32G>A (n.405+32G>A) c.250+32G>A c.249+32G>A (n.249+32G>A) c.*250+32G>A (n.*250+32G>A) c.360+32G>A (n.360+32G>A) c.297+32G>A (n.297+32G>A) n.673+32G>A n.324+32G>A c.273+32G>A (n.273+32G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.128400985del | CA1742334640 | IMPDH1 | c.396+32del (n.396+32del) n.360+32del c.504+32del (n.504+32del) c.151+32del c.474+32del (n.474+32del) c.405+32del (n.405+32del) c.250+32del c.249+32del (n.249+32del) c.*250+32del (n.*250+32del) c.360+32del (n.360+32del) c.297+32del (n.297+32del) n.673+32del n.324+32del c.273+32del (n.273+32del) | dbSNP gnomAD v4 |
| 7 | g.128400984C>T | CA2604364837 | IMPDH1 | c.396+31G>A (n.396+31G>A) n.360+31G>A c.504+31G>A (n.504+31G>A) c.151+31G>A c.474+31G>A (n.474+31G>A) c.405+31G>A (n.405+31G>A) c.250+31G>A c.249+31G>A (n.249+31G>A) c.*250+31G>A (n.*250+31G>A) c.360+31G>A (n.360+31G>A) c.297+31G>A (n.297+31G>A) n.673+31G>A n.324+31G>A c.273+31G>A (n.273+31G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.128400988G>C | CA1742334651 | IMPDH1 | c.396+27C>G (n.396+27C>G) n.360+27C>G c.504+27C>G (n.504+27C>G) c.151+27C>G c.474+27C>G (n.474+27C>G) c.405+27C>G (n.405+27C>G) c.250+27C>G c.249+27C>G (n.249+27C>G) c.*250+27C>G (n.*250+27C>G) c.360+27C>G (n.360+27C>G) c.297+27C>G (n.297+27C>G) n.673+27C>G n.324+27C>G c.273+27C>G (n.273+27C>G) | dbSNP gnomAD v4 |
| 7 | g.128400988G= | CA1742334650 | IMPDH1 | c.396+27C= (n.396+27C=) n.360+27C= c.504+27C= (n.504+27C=) c.151+27C= c.474+27C= (n.474+27C=) c.405+27C= (n.405+27C=) c.250+27C= c.249+27C= (n.249+27C=) c.*250+27C= (n.*250+27C=) c.360+27C= (n.360+27C=) c.297+27C= (n.297+27C=) n.673+27C= n.324+27C= c.273+27C= (n.273+27C=) | |
| 7 | g.128400990G>A | CA2684778662 | IMPDH1 | c.396+25C>T (n.396+25C>T) n.360+25C>T c.504+25C>T (n.504+25C>T) c.151+25C>T c.474+25C>T (n.474+25C>T) c.405+25C>T (n.405+25C>T) c.250+25C>T c.249+25C>T (n.249+25C>T) c.*250+25C>T (n.*250+25C>T) c.360+25C>T (n.360+25C>T) c.297+25C>T (n.297+25C>T) n.673+25C>T n.324+25C>T c.273+25C>T (n.273+25C>T) | gnomAD v4 |
| 7 | g.128400994C>G | CA2544877737 | IMPDH1 | c.396+21G>C (n.396+21G>C) n.360+21G>C c.504+21G>C (n.504+21G>C) c.151+21G>C c.474+21G>C (n.474+21G>C) c.405+21G>C (n.405+21G>C) c.250+21G>C c.249+21G>C (n.249+21G>C) c.*250+21G>C (n.*250+21G>C) c.360+21G>C (n.360+21G>C) c.297+21G>C (n.297+21G>C) n.673+21G>C n.324+21G>C c.273+21G>C (n.273+21G>C) | |
| 7 | g.128400995C>A | CA2684778663 | IMPDH1 | c.396+20G>T (n.396+20G>T) n.360+20G>T c.504+20G>T (n.504+20G>T) c.151+20G>T c.474+20G>T (n.474+20G>T) c.405+20G>T (n.405+20G>T) c.250+20G>T c.249+20G>T (n.249+20G>T) c.*250+20G>T (n.*250+20G>T) c.360+20G>T (n.360+20G>T) c.297+20G>T (n.297+20G>T) n.673+20G>T n.324+20G>T c.273+20G>T (n.273+20G>T) | gnomAD v4 |
| 7 | g.128400995C= | CA1742334656 | IMPDH1 | c.396+20G= (n.396+20G=) n.360+20G= c.504+20G= (n.504+20G=) c.151+20G= c.474+20G= (n.474+20G=) c.405+20G= (n.405+20G=) c.250+20G= c.249+20G= (n.249+20G=) c.*250+20G= (n.*250+20G=) c.360+20G= (n.360+20G=) c.297+20G= (n.297+20G=) n.673+20G= n.324+20G= c.273+20G= (n.273+20G=) | |
| 7 | g.128400995C>G | CA4471147 | IMPDH1 | c.396+20G>C (n.396+20G>C) n.360+20G>C c.504+20G>C (n.504+20G>C) c.151+20G>C c.474+20G>C (n.474+20G>C) c.405+20G>C (n.405+20G>C) c.250+20G>C c.249+20G>C (n.249+20G>C) c.*250+20G>C (n.*250+20G>C) c.360+20G>C (n.360+20G>C) c.297+20G>C (n.297+20G>C) n.673+20G>C n.324+20G>C c.273+20G>C (n.273+20G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128400995C>T | CA1742334657 | IMPDH1 | c.396+20G>A (n.396+20G>A) n.360+20G>A c.504+20G>A (n.504+20G>A) c.151+20G>A c.474+20G>A (n.474+20G>A) c.405+20G>A (n.405+20G>A) c.250+20G>A c.249+20G>A (n.249+20G>A) c.*250+20G>A (n.*250+20G>A) c.360+20G>A (n.360+20G>A) c.297+20G>A (n.297+20G>A) n.673+20G>A n.324+20G>A c.273+20G>A (n.273+20G>A) | dbSNP |
| 7 | g.128400996A>G | CA2579011344 | IMPDH1 | c.396+19T>C (n.396+19T>C) n.360+19T>C c.504+19T>C (n.504+19T>C) c.151+19T>C c.474+19T>C (n.474+19T>C) c.405+19T>C (n.405+19T>C) c.250+19T>C c.249+19T>C (n.249+19T>C) c.*250+19T>C (n.*250+19T>C) c.360+19T>C (n.360+19T>C) c.297+19T>C (n.297+19T>C) n.673+19T>C n.324+19T>C c.273+19T>C (n.273+19T>C) | |
| 7 | g.128400997T>A | CA578149300 | IMPDH1 | c.396+18A>T (n.396+18A>T) n.360+18A>T c.504+18A>T (n.504+18A>T) c.151+18A>T c.474+18A>T (n.474+18A>T) c.405+18A>T (n.405+18A>T) c.250+18A>T c.249+18A>T (n.249+18A>T) c.*250+18A>T (n.*250+18A>T) c.360+18A>T (n.360+18A>T) c.297+18A>T (n.297+18A>T) n.673+18A>T n.324+18A>T c.273+18A>T (n.273+18A>T) | dbSNP gnomAD v2 |
| 7 | g.128400997T>C | CA1742334665 | IMPDH1 | c.396+18A>G (n.396+18A>G) n.360+18A>G c.504+18A>G (n.504+18A>G) c.151+18A>G c.474+18A>G (n.474+18A>G) c.405+18A>G (n.405+18A>G) c.250+18A>G c.249+18A>G (n.249+18A>G) c.*250+18A>G (n.*250+18A>G) c.360+18A>G (n.360+18A>G) c.297+18A>G (n.297+18A>G) n.673+18A>G n.324+18A>G c.273+18A>G (n.273+18A>G) | ClinVar dbSNP gnomAD v4 |
| 7 | g.128400997T= | CA1742334663 | IMPDH1 | c.396+18A= (n.396+18A=) n.360+18A= c.504+18A= (n.504+18A=) c.151+18A= c.474+18A= (n.474+18A=) c.405+18A= (n.405+18A=) c.250+18A= c.249+18A= (n.249+18A=) c.*250+18A= (n.*250+18A=) c.360+18A= (n.360+18A=) c.297+18A= (n.297+18A=) n.673+18A= n.324+18A= c.273+18A= (n.273+18A=) | |
| 7 | g.128400998G>A | CA1742334671 | IMPDH1 | c.396+17C>T (n.396+17C>T) n.360+17C>T c.504+17C>T (n.504+17C>T) c.151+17C>T c.474+17C>T (n.474+17C>T) c.405+17C>T (n.405+17C>T) c.250+17C>T c.249+17C>T (n.249+17C>T) c.*250+17C>T (n.*250+17C>T) c.360+17C>T (n.360+17C>T) c.297+17C>T (n.297+17C>T) n.673+17C>T n.324+17C>T c.273+17C>T (n.273+17C>T) | dbSNP |
| 7 | g.128400998G= | CA1742334670 | IMPDH1 | c.396+17C= (n.396+17C=) n.360+17C= c.504+17C= (n.504+17C=) c.151+17C= c.474+17C= (n.474+17C=) c.405+17C= (n.405+17C=) c.250+17C= c.249+17C= (n.249+17C=) c.*250+17C= (n.*250+17C=) c.360+17C= (n.360+17C=) c.297+17C= (n.297+17C=) n.673+17C= n.324+17C= c.273+17C= (n.273+17C=) | |
| 7 | g.128400998G>T | CA2684778668 | IMPDH1 | c.396+17C>A (n.396+17C>A) n.360+17C>A c.504+17C>A (n.504+17C>A) c.151+17C>A c.474+17C>A (n.474+17C>A) c.405+17C>A (n.405+17C>A) c.250+17C>A c.249+17C>A (n.249+17C>A) c.*250+17C>A (n.*250+17C>A) c.360+17C>A (n.360+17C>A) c.297+17C>A (n.297+17C>A) n.673+17C>A n.324+17C>A c.273+17C>A (n.273+17C>A) | gnomAD v4 |
| 7 | g.128401000A= | CA1742334672 | IMPDH1 | c.396+15T= (n.396+15T=) n.360+15T= c.504+15T= (n.504+15T=) c.151+15T= c.474+15T= (n.474+15T=) c.405+15T= (n.405+15T=) c.250+15T= c.249+15T= (n.249+15T=) c.*250+15T= (n.*250+15T=) c.360+15T= (n.360+15T=) c.297+15T= (n.297+15T=) n.673+15T= n.324+15T= c.273+15T= (n.273+15T=) | |
| 7 | g.128401000A>G | CA578149301 | IMPDH1 | c.396+15T>C (n.396+15T>C) n.360+15T>C c.504+15T>C (n.504+15T>C) c.151+15T>C c.474+15T>C (n.474+15T>C) c.405+15T>C (n.405+15T>C) c.250+15T>C c.249+15T>C (n.249+15T>C) c.*250+15T>C (n.*250+15T>C) c.360+15T>C (n.360+15T>C) c.297+15T>C (n.297+15T>C) n.673+15T>C n.324+15T>C c.273+15T>C (n.273+15T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.128401001G>T | CA2579011345 | IMPDH1 | c.396+14C>A (n.396+14C>A) n.360+14C>A c.504+14C>A (n.504+14C>A) c.151+14C>A c.474+14C>A (n.474+14C>A) c.405+14C>A (n.405+14C>A) c.250+14C>A c.249+14C>A (n.249+14C>A) c.*250+14C>A (n.*250+14C>A) c.360+14C>A (n.360+14C>A) c.297+14C>A (n.297+14C>A) n.673+14C>A n.324+14C>A c.273+14C>A (n.273+14C>A) | gnomAD v4 |
| 7 | g.128401002G>A | CA1107043025 | IMPDH1 | c.396+13C>T (n.396+13C>T) n.360+13C>T c.504+13C>T (n.504+13C>T) c.151+13C>T c.474+13C>T (n.474+13C>T) c.405+13C>T (n.405+13C>T) c.250+13C>T c.249+13C>T (n.249+13C>T) c.*250+13C>T (n.*250+13C>T) c.360+13C>T (n.360+13C>T) c.297+13C>T (n.297+13C>T) n.673+13C>T n.324+13C>T c.273+13C>T (n.273+13C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.128401002G= | CA1742334676 | IMPDH1 | c.396+13C= (n.396+13C=) n.360+13C= c.504+13C= (n.504+13C=) c.151+13C= c.474+13C= (n.474+13C=) c.405+13C= (n.405+13C=) c.250+13C= c.249+13C= (n.249+13C=) c.*250+13C= (n.*250+13C=) c.360+13C= (n.360+13C=) c.297+13C= (n.297+13C=) n.673+13C= n.324+13C= c.273+13C= (n.273+13C=) | |
| 7 | g.128401002G>T | CA2684778671 | IMPDH1 | c.396+13C>A (n.396+13C>A) n.360+13C>A c.504+13C>A (n.504+13C>A) c.151+13C>A c.474+13C>A (n.474+13C>A) c.405+13C>A (n.405+13C>A) c.250+13C>A c.249+13C>A (n.249+13C>A) c.*250+13C>A (n.*250+13C>A) c.360+13C>A (n.360+13C>A) c.297+13C>A (n.297+13C>A) n.673+13C>A n.324+13C>A c.273+13C>A (n.273+13C>A) | gnomAD v4 |
| 7 | g.128401003T>A | CA1742334678 | IMPDH1 | c.396+12A>T (n.396+12A>T) n.360+12A>T c.504+12A>T (n.504+12A>T) c.151+12A>T c.474+12A>T (n.474+12A>T) c.405+12A>T (n.405+12A>T) c.250+12A>T c.249+12A>T (n.249+12A>T) c.*250+12A>T (n.*250+12A>T) c.360+12A>T (n.360+12A>T) c.297+12A>T (n.297+12A>T) n.673+12A>T n.324+12A>T c.273+12A>T (n.273+12A>T) | dbSNP |
| 7 | g.128401003T= | CA1742334677 | IMPDH1 | c.396+12A= (n.396+12A=) n.360+12A= c.504+12A= (n.504+12A=) c.151+12A= c.474+12A= (n.474+12A=) c.405+12A= (n.405+12A=) c.250+12A= c.249+12A= (n.249+12A=) c.*250+12A= (n.*250+12A=) c.360+12A= (n.360+12A=) c.297+12A= (n.297+12A=) n.673+12A= n.324+12A= c.273+12A= (n.273+12A=) | |
| 7 | g.128401004G>A | CA2684778673 | IMPDH1 | c.396+11C>T (n.396+11C>T) n.360+11C>T c.504+11C>T (n.504+11C>T) c.151+11C>T c.474+11C>T (n.474+11C>T) c.405+11C>T (n.405+11C>T) c.250+11C>T c.249+11C>T (n.249+11C>T) c.*250+11C>T (n.*250+11C>T) c.360+11C>T (n.360+11C>T) c.297+11C>T (n.297+11C>T) n.673+11C>T n.324+11C>T c.273+11C>T (n.273+11C>T) | dbSNP gnomAD v4 |
| 7 | g.128401004G>T | CA2684778674 | IMPDH1 | c.396+11C>A (n.396+11C>A) n.360+11C>A c.504+11C>A (n.504+11C>A) c.151+11C>A c.474+11C>A (n.474+11C>A) c.405+11C>A (n.405+11C>A) c.250+11C>A c.249+11C>A (n.249+11C>A) c.*250+11C>A (n.*250+11C>A) c.360+11C>A (n.360+11C>A) c.297+11C>A (n.297+11C>A) n.673+11C>A n.324+11C>A c.273+11C>A (n.273+11C>A) | gnomAD v4 |
| 7 | g.128401006G>A | CA578149302 | IMPDH1 | c.396+9C>T (n.396+9C>T) n.360+9C>T c.504+9C>T (n.504+9C>T) c.151+9C>T c.474+9C>T (n.474+9C>T) c.405+9C>T (n.405+9C>T) c.250+9C>T c.249+9C>T (n.249+9C>T) c.*250+9C>T (n.*250+9C>T) c.360+9C>T (n.360+9C>T) c.297+9C>T (n.297+9C>T) n.673+9C>T n.324+9C>T c.273+9C>T (n.273+9C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128401006G= | CA1742334681 | IMPDH1 | c.396+9C= (n.396+9C=) n.360+9C= c.504+9C= (n.504+9C=) c.151+9C= c.474+9C= (n.474+9C=) c.405+9C= (n.405+9C=) c.250+9C= c.249+9C= (n.249+9C=) c.*250+9C= (n.*250+9C=) c.360+9C= (n.360+9C=) c.297+9C= (n.297+9C=) n.673+9C= n.324+9C= c.273+9C= (n.273+9C=) | |
| 7 | g.128401006G>T | CA2579011346 | IMPDH1 | c.396+9C>A (n.396+9C>A) n.360+9C>A c.504+9C>A (n.504+9C>A) c.151+9C>A c.474+9C>A (n.474+9C>A) c.405+9C>A (n.405+9C>A) c.250+9C>A c.249+9C>A (n.249+9C>A) c.*250+9C>A (n.*250+9C>A) c.360+9C>A (n.360+9C>A) c.297+9C>A (n.297+9C>A) n.673+9C>A n.324+9C>A c.273+9C>A (n.273+9C>A) | |
| 7 | g.128401007T>C | CA166129505 | IMPDH1 | c.396+8A>G (n.396+8A>G) n.360+8A>G c.504+8A>G (n.504+8A>G) c.151+8A>G c.474+8A>G (n.474+8A>G) c.405+8A>G (n.405+8A>G) c.250+8A>G c.249+8A>G (n.249+8A>G) c.*250+8A>G (n.*250+8A>G) c.360+8A>G (n.360+8A>G) c.297+8A>G (n.297+8A>G) n.673+8A>G n.324+8A>G c.273+8A>G (n.273+8A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128401007T= | CA1742334683 | IMPDH1 | c.396+8A= (n.396+8A=) n.360+8A= c.504+8A= (n.504+8A=) c.151+8A= c.474+8A= (n.474+8A=) c.405+8A= (n.405+8A=) c.250+8A= c.249+8A= (n.249+8A=) c.*250+8A= (n.*250+8A=) c.360+8A= (n.360+8A=) c.297+8A= (n.297+8A=) n.673+8A= n.324+8A= c.273+8A= (n.273+8A=) | |
| 7 | g.128401012C= | CA1742334686 | IMPDH1 | c.396+3G= (n.396+3G=) n.360+3G= c.504+3G= (n.504+3G=) c.151+3G= c.474+3G= (n.474+3G=) c.405+3G= (n.405+3G=) c.250+3G= c.249+3G= (n.249+3G=) c.*250+3G= (n.*250+3G=) c.360+3G= (n.360+3G=) c.297+3G= (n.297+3G=) n.673+3G= n.324+3G= c.273+3G= (n.273+3G=) | |
| 7 | g.128401012C>T | CA4471148 | IMPDH1 | c.396+3G>A (n.396+3G>A) n.360+3G>A c.504+3G>A (n.504+3G>A) c.151+3G>A c.474+3G>A (n.474+3G>A) c.405+3G>A (n.405+3G>A) c.250+3G>A c.249+3G>A (n.249+3G>A) c.*250+3G>A (n.*250+3G>A) c.360+3G>A (n.360+3G>A) c.297+3G>A (n.297+3G>A) n.673+3G>A n.324+3G>A c.273+3G>A (n.273+3G>A) | dbSNP ExAC gnomAD v4 |
| 7 | g.128401013A>C | CA369174269 | IMPDH1 | c.396+2T>G (n.396+2T>G) n.360+2T>G c.504+2T>G (n.504+2T>G) c.151+2T>G c.474+2T>G (n.474+2T>G) c.405+2T>G (n.405+2T>G) c.250+2T>G c.249+2T>G (n.249+2T>G) c.*250+2T>G (n.*250+2T>G) c.360+2T>G (n.360+2T>G) c.297+2T>G (n.297+2T>G) n.673+2T>G n.324+2T>G c.273+2T>G (n.273+2T>G) | |
| 7 | g.128401013A>G | CA369174271 | IMPDH1 | c.396+2T>C (n.396+2T>C) n.360+2T>C c.504+2T>C (n.504+2T>C) c.151+2T>C c.474+2T>C (n.474+2T>C) c.405+2T>C (n.405+2T>C) c.250+2T>C c.249+2T>C (n.249+2T>C) c.*250+2T>C (n.*250+2T>C) c.360+2T>C (n.360+2T>C) c.297+2T>C (n.297+2T>C) n.673+2T>C n.324+2T>C c.273+2T>C (n.273+2T>C) | |
| 7 | g.128401013A>T | CA369174273 | IMPDH1 | c.396+2T>A (n.396+2T>A) n.360+2T>A c.504+2T>A (n.504+2T>A) c.151+2T>A c.474+2T>A (n.474+2T>A) c.405+2T>A (n.405+2T>A) c.250+2T>A c.249+2T>A (n.249+2T>A) c.*250+2T>A (n.*250+2T>A) c.360+2T>A (n.360+2T>A) c.297+2T>A (n.297+2T>A) n.673+2T>A n.324+2T>A c.273+2T>A (n.273+2T>A) | |
| 7 | g.128401014C>A | CA369174275 | IMPDH1 | c.396+1G>T (n.396+1G>T) n.360+1G>T c.504+1G>T (n.504+1G>T) c.151+1G>T c.474+1G>T (n.474+1G>T) c.405+1G>T (n.405+1G>T) c.250+1G>T c.249+1G>T (n.249+1G>T) c.*250+1G>T (n.*250+1G>T) c.360+1G>T (n.360+1G>T) c.297+1G>T (n.297+1G>T) n.673+1G>T n.324+1G>T c.273+1G>T (n.273+1G>T) | |
| 7 | g.128401014C>G | CA369174277 | IMPDH1 | c.396+1G>C (n.396+1G>C) n.360+1G>C c.504+1G>C (n.504+1G>C) c.151+1G>C c.474+1G>C (n.474+1G>C) c.405+1G>C (n.405+1G>C) c.250+1G>C c.249+1G>C (n.249+1G>C) c.*250+1G>C (n.*250+1G>C) c.360+1G>C (n.360+1G>C) c.297+1G>C (n.297+1G>C) n.673+1G>C n.324+1G>C c.273+1G>C (n.273+1G>C) | |
| 7 | g.128401014C>T | CA369174279 | IMPDH1 | c.396+1G>A (n.396+1G>A) n.360+1G>A c.504+1G>A (n.504+1G>A) c.151+1G>A c.474+1G>A (n.474+1G>A) c.405+1G>A (n.405+1G>A) c.250+1G>A c.249+1G>A (n.249+1G>A) c.*250+1G>A (n.*250+1G>A) c.360+1G>A (n.360+1G>A) c.297+1G>A (n.297+1G>A) n.673+1G>A n.324+1G>A c.273+1G>A (n.273+1G>A) | |
| 7 | g.128401015A>C | CA457528542 | IMPDH1 | c.396T>G (p.Ala132=) n.360T>G c.504T>G (p.Ala168=) c.151T>G c.474T>G (p.Ala158=) c.405T>G (p.Ala135=) c.250T>G c.249T>G (p.Ala83=) c.*250T>G (n.*250T>G) c.360T>G (p.Ala120=) c.297T>G (p.Ala99=) n.673T>G n.324T>G c.273T>G (p.Ala91=) | |
| 7 | g.128401015A>G | CA457528545 | IMPDH1 | c.396T>C (p.Ala132=) n.360T>C c.504T>C (p.Ala168=) c.151T>C c.474T>C (p.Ala158=) c.405T>C (p.Ala135=) c.250T>C c.249T>C (p.Ala83=) c.*250T>C (n.*250T>C) c.360T>C (p.Ala120=) c.297T>C (p.Ala99=) n.673T>C n.324T>C c.273T>C (p.Ala91=) | |
| 7 | g.128401015A>T | CA457528543 | IMPDH1 | c.396T>A (p.Ala132=) n.360T>A c.504T>A (p.Ala168=) c.151T>A c.474T>A (p.Ala158=) c.405T>A (p.Ala135=) c.250T>A c.249T>A (p.Ala83=) c.*250T>A (n.*250T>A) c.360T>A (p.Ala120=) c.297T>A (p.Ala99=) n.673T>A n.324T>A c.273T>A (p.Ala91=) | |
| 7 | g.128401016G>A | CA369174281 | IMPDH1 | c.395C>T (p.Ala132Val) n.359C>T c.503C>T (p.Ala168Val) c.150C>T c.473C>T (p.Ala158Val) c.404C>T (p.Ala135Val) c.249C>T c.248C>T (p.Ala83Val) c.*249C>T (n.*249C>T) c.359C>T (p.Ala120Val) c.296C>T (p.Ala99Val) n.672C>T n.323C>T c.272C>T (p.Ala91Val) | |
| 7 | g.128401016G>C | CA369174283 | IMPDH1 | c.395C>G (p.Ala132Gly) n.359C>G c.503C>G (p.Ala168Gly) c.150C>G c.473C>G (p.Ala158Gly) c.404C>G (p.Ala135Gly) c.249C>G c.248C>G (p.Ala83Gly) c.*249C>G (n.*249C>G) c.359C>G (p.Ala120Gly) c.296C>G (p.Ala99Gly) n.672C>G n.323C>G c.272C>G (p.Ala91Gly) | |
| 7 | g.128401016G>T | CA369174284 | IMPDH1 | c.395C>A (p.Ala132Asp) n.359C>A c.503C>A (p.Ala168Asp) c.150C>A c.473C>A (p.Ala158Asp) c.404C>A (p.Ala135Asp) c.249C>A c.248C>A (p.Ala83Asp) c.*249C>A (n.*249C>A) c.359C>A (p.Ala120Asp) c.296C>A (p.Ala99Asp) n.672C>A n.323C>A c.272C>A (p.Ala91Asp) | |
| 7 | g.128401017C>A | CA369174286 | IMPDH1 | c.394G>T (p.Ala132Ser) n.358G>T c.502G>T (p.Ala168Ser) c.149G>T c.472G>T (p.Ala158Ser) c.403G>T (p.Ala135Ser) c.248G>T c.247G>T (p.Ala83Ser) c.*248G>T (n.*248G>T) c.358G>T (p.Ala120Ser) c.295G>T (p.Ala99Ser) n.671G>T n.322G>T c.271G>T (p.Ala91Ser) | |
| 7 | g.128401017C= | CA1742334689 | IMPDH1 | c.394G= (p.Ala132=) n.358G= c.502G= (p.Ala168=) c.149G= c.472G= (p.Ala158=) c.403G= (p.Ala135=) c.248G= c.247G= (p.Ala83=) c.*248G= (n.*248G=) c.358G= (p.Ala120=) c.295G= (p.Ala99=) n.671G= n.322G= c.271G= (p.Ala91=) | |
| 7 | g.128401017C>G | CA369174288 | IMPDH1 | c.394G>C (p.Ala132Pro) n.358G>C c.502G>C (p.Ala168Pro) c.149G>C c.472G>C (p.Ala158Pro) c.403G>C (p.Ala135Pro) c.248G>C c.247G>C (p.Ala83Pro) c.*248G>C (n.*248G>C) c.358G>C (p.Ala120Pro) c.295G>C (p.Ala99Pro) n.671G>C n.322G>C c.271G>C (p.Ala91Pro) | |
| 7 | g.128401017C>T | CA369174289 | IMPDH1 | c.394G>A (p.Ala132Thr) n.358G>A c.502G>A (p.Ala168Thr) c.149G>A c.472G>A (p.Ala158Thr) c.403G>A (p.Ala135Thr) c.248G>A c.247G>A (p.Ala83Thr) c.*248G>A (n.*248G>A) c.358G>A (p.Ala120Thr) c.295G>A (p.Ala99Thr) n.671G>A n.322G>A c.271G>A (p.Ala91Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.128401018C>A | CA369174293 | IMPDH1 | c.393G>T (p.Met131Ile) n.357G>T c.501G>T (p.Met167Ile) c.148G>T c.471G>T (p.Met157Ile) c.402G>T (p.Met134Ile) c.247G>T c.246G>T (p.Met82Ile) c.*247G>T (n.*247G>T) c.357G>T (p.Met119Ile) c.294G>T (p.Met98Ile) n.670G>T n.321G>T c.270G>T (p.Met90Ile) | |
| 7 | g.128401018C>G | CA369174294 | IMPDH1 | c.393G>C (p.Met131Ile) n.357G>C c.501G>C (p.Met167Ile) c.148G>C c.471G>C (p.Met157Ile) c.402G>C (p.Met134Ile) c.247G>C c.246G>C (p.Met82Ile) c.*247G>C (n.*247G>C) c.357G>C (p.Met119Ile) c.294G>C (p.Met98Ile) n.670G>C n.321G>C c.270G>C (p.Met90Ile) | |
| 7 | g.128401018C>T | CA369174291 | IMPDH1 | c.393G>A (p.Met131Ile) n.357G>A c.501G>A (p.Met167Ile) c.148G>A c.471G>A (p.Met157Ile) c.402G>A (p.Met134Ile) c.247G>A c.246G>A (p.Met82Ile) c.*247G>A (n.*247G>A) c.357G>A (p.Met119Ile) c.294G>A (p.Met98Ile) n.670G>A n.321G>A c.270G>A (p.Met90Ile) | |
| 7 | g.128401019A>C | CA369174299 | IMPDH1 | c.392T>G (p.Met131Arg) n.356T>G c.500T>G (p.Met167Arg) c.147T>G c.470T>G (p.Met157Arg) c.401T>G (p.Met134Arg) c.246T>G c.245T>G (p.Met82Arg) c.*246T>G (n.*246T>G) c.356T>G (p.Met119Arg) c.293T>G (p.Met98Arg) n.669T>G n.320T>G c.269T>G (p.Met90Arg) | |
| 7 | g.128401019A>G | CA369174297 | IMPDH1 | c.392T>C (p.Met131Thr) n.356T>C c.500T>C (p.Met167Thr) c.147T>C c.470T>C (p.Met157Thr) c.401T>C (p.Met134Thr) c.246T>C c.245T>C (p.Met82Thr) c.*246T>C (n.*246T>C) c.356T>C (p.Met119Thr) c.293T>C (p.Met98Thr) n.669T>C n.320T>C c.269T>C (p.Met90Thr) | |
| 7 | g.128401019A>T | CA369174298 | IMPDH1 | c.392T>A (p.Met131Lys) n.356T>A c.500T>A (p.Met167Lys) c.147T>A c.470T>A (p.Met157Lys) c.401T>A (p.Met134Lys) c.246T>A c.245T>A (p.Met82Lys) c.*246T>A (n.*246T>A) c.356T>A (p.Met119Lys) c.293T>A (p.Met98Lys) n.669T>A n.320T>A c.269T>A (p.Met90Lys) | |
| 7 | g.128401020T>A | CA369174301 | IMPDH1 | c.391A>T (p.Met131Leu) n.355A>T c.499A>T (p.Met167Leu) c.146A>T c.469A>T (p.Met157Leu) c.400A>T (p.Met134Leu) c.245A>T c.244A>T (p.Met82Leu) c.*245A>T (n.*245A>T) c.355A>T (p.Met119Leu) c.292A>T (p.Met98Leu) n.668A>T n.319A>T c.268A>T (p.Met90Leu) | gnomAD v4 |
| 7 | g.128401020T>C | CA369174303 | IMPDH1 | c.391A>G (p.Met131Val) n.355A>G c.499A>G (p.Met167Val) c.146A>G c.469A>G (p.Met157Val) c.400A>G (p.Met134Val) c.245A>G c.244A>G (p.Met82Val) c.*245A>G (n.*245A>G) c.355A>G (p.Met119Val) c.292A>G (p.Met98Val) n.668A>G n.319A>G c.268A>G (p.Met90Val) | gnomAD v4 |
| 7 | g.128401020T>G | CA369174305 | IMPDH1 | c.391A>C (p.Met131Leu) n.355A>C c.499A>C (p.Met167Leu) c.146A>C c.469A>C (p.Met157Leu) c.400A>C (p.Met134Leu) c.245A>C c.244A>C (p.Met82Leu) c.*245A>C (n.*245A>C) c.355A>C (p.Met119Leu) c.292A>C (p.Met98Leu) n.668A>C n.319A>C c.268A>C (p.Met90Leu) | |
| 7 | g.128401021G>A | CA457528556 | IMPDH1 | c.390C>T (p.Ala130=) n.354C>T c.498C>T (p.Ala166=) c.145C>T c.468C>T (p.Ala156=) c.399C>T (p.Ala133=) c.244C>T c.243C>T (p.Ala81=) c.*244C>T (n.*244C>T) c.354C>T (p.Ala118=) c.291C>T (p.Ala97=) n.667C>T n.318C>T c.267C>T (p.Ala89=) | |
| 7 | g.128401021G>C | CA457528555 | IMPDH1 | c.390C>G (p.Ala130=) n.354C>G c.498C>G (p.Ala166=) c.145C>G c.468C>G (p.Ala156=) c.399C>G (p.Ala133=) c.244C>G c.243C>G (p.Ala81=) c.*244C>G (n.*244C>G) c.354C>G (p.Ala118=) c.291C>G (p.Ala97=) n.667C>G n.318C>G c.267C>G (p.Ala89=) | |
| 7 | g.128401021G>T | CA457528554 | IMPDH1 | c.390C>A (p.Ala130=) n.354C>A c.498C>A (p.Ala166=) c.145C>A c.468C>A (p.Ala156=) c.399C>A (p.Ala133=) c.244C>A c.243C>A (p.Ala81=) c.*244C>A (n.*244C>A) c.354C>A (p.Ala118=) c.291C>A (p.Ala97=) n.667C>A n.318C>A c.267C>A (p.Ala89=) | |
| 7 | g.128401022G>A | CA369174307 | IMPDH1 | c.389C>T (p.Ala130Val) n.353C>T c.497C>T (p.Ala166Val) c.144C>T c.467C>T (p.Ala156Val) c.398C>T (p.Ala133Val) c.243C>T c.242C>T (p.Ala81Val) c.*243C>T (n.*243C>T) c.353C>T (p.Ala118Val) c.290C>T (p.Ala97Val) n.666C>T n.317C>T c.266C>T (p.Ala89Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.128401022G>C | CA369174308 | IMPDH1 | c.389C>G (p.Ala130Gly) n.353C>G c.497C>G (p.Ala166Gly) c.144C>G c.467C>G (p.Ala156Gly) c.398C>G (p.Ala133Gly) c.243C>G c.242C>G (p.Ala81Gly) c.*243C>G (n.*243C>G) c.353C>G (p.Ala118Gly) c.290C>G (p.Ala97Gly) n.666C>G n.317C>G c.266C>G (p.Ala89Gly) | |
| 7 | g.128401022G= | CA1742334693 | IMPDH1 | c.389C= (p.Ala130=) n.353C= c.497C= (p.Ala166=) c.144C= c.467C= (p.Ala156=) c.398C= (p.Ala133=) c.243C= c.242C= (p.Ala81=) c.*243C= (n.*243C=) c.353C= (p.Ala118=) c.290C= (p.Ala97=) n.666C= n.317C= c.266C= (p.Ala89=) | |
| 7 | g.128401022G>T | CA369174311 | IMPDH1 | c.389C>A (p.Ala130Asp) n.353C>A c.497C>A (p.Ala166Asp) c.144C>A c.467C>A (p.Ala156Asp) c.398C>A (p.Ala133Asp) c.243C>A c.242C>A (p.Ala81Asp) c.*243C>A (n.*243C>A) c.353C>A (p.Ala118Asp) c.290C>A (p.Ala97Asp) n.666C>A n.317C>A c.266C>A (p.Ala89Asp) | |
| 7 | g.128401023C>A | CA369174313 | IMPDH1 | c.388G>T (p.Ala130Ser) n.352G>T c.496G>T (p.Ala166Ser) c.143G>T c.466G>T (p.Ala156Ser) c.397G>T (p.Ala133Ser) c.242G>T c.241G>T (p.Ala81Ser) c.*242G>T (n.*242G>T) c.352G>T (p.Ala118Ser) c.289G>T (p.Ala97Ser) n.665G>T n.316G>T c.265G>T (p.Ala89Ser) | |
| 7 | g.128401023C>G | CA369174314 | IMPDH1 | c.388G>C (p.Ala130Pro) n.352G>C c.496G>C (p.Ala166Pro) c.143G>C c.466G>C (p.Ala156Pro) c.397G>C (p.Ala133Pro) c.242G>C c.241G>C (p.Ala81Pro) c.*242G>C (n.*242G>C) c.352G>C (p.Ala118Pro) c.289G>C (p.Ala97Pro) n.665G>C n.316G>C c.265G>C (p.Ala89Pro) | |
| 7 | g.128401023C>T | CA369174316 | IMPDH1 | c.388G>A (p.Ala130Thr) n.352G>A c.496G>A (p.Ala166Thr) c.143G>A c.466G>A (p.Ala156Thr) c.397G>A (p.Ala133Thr) c.242G>A c.241G>A (p.Ala81Thr) c.*242G>A (n.*242G>A) c.352G>A (p.Ala118Thr) c.289G>A (p.Ala97Thr) n.665G>A n.316G>A c.265G>A (p.Ala89Thr) | |
| 7 | g.128401024A>C | CA369174317 | IMPDH1 | c.387T>G (p.Ile129Met) n.351T>G c.495T>G (p.Ile165Met) c.142T>G c.465T>G (p.Ile155Met) c.396T>G (p.Ile132Met) c.241T>G c.240T>G (p.Ile80Met) c.*241T>G (n.*241T>G) c.351T>G (p.Ile117Met) c.288T>G (p.Ile96Met) n.664T>G n.315T>G c.264T>G (p.Ile88Met) | |
| 7 | g.128401024A>G | CA457528561 | IMPDH1 | c.387T>C (p.Ile129=) n.351T>C c.495T>C (p.Ile165=) c.142T>C c.465T>C (p.Ile155=) c.396T>C (p.Ile132=) c.241T>C c.240T>C (p.Ile80=) c.*241T>C (n.*241T>C) c.351T>C (p.Ile117=) c.288T>C (p.Ile96=) n.664T>C n.315T>C c.264T>C (p.Ile88=) | gnomAD v4 |
| 7 | g.128401024A>T | CA457528560 | IMPDH1 | c.387T>A (p.Ile129=) n.351T>A c.495T>A (p.Ile165=) c.142T>A c.465T>A (p.Ile155=) c.396T>A (p.Ile132=) c.241T>A c.240T>A (p.Ile80=) c.*241T>A (n.*241T>A) c.351T>A (p.Ile117=) c.288T>A (p.Ile96=) n.664T>A n.315T>A c.264T>A (p.Ile88=) | |
| 7 | g.128401025A>C | CA369174321 | IMPDH1 | c.386T>G (p.Ile129Ser) n.350T>G c.494T>G (p.Ile165Ser) c.141T>G c.464T>G (p.Ile155Ser) c.395T>G (p.Ile132Ser) c.240T>G c.239T>G (p.Ile80Ser) c.*240T>G (n.*240T>G) c.350T>G (p.Ile117Ser) c.287T>G (p.Ile96Ser) n.663T>G n.314T>G c.263T>G (p.Ile88Ser) | |
| 7 | g.128401025A>G | CA369174323 | IMPDH1 | c.386T>C (p.Ile129Thr) n.350T>C c.494T>C (p.Ile165Thr) c.141T>C c.464T>C (p.Ile155Thr) c.395T>C (p.Ile132Thr) c.240T>C c.239T>C (p.Ile80Thr) c.*240T>C (n.*240T>C) c.350T>C (p.Ile117Thr) c.287T>C (p.Ile96Thr) n.663T>C n.314T>C c.263T>C (p.Ile88Thr) | |
| 7 | g.128401025A>T | CA369174319 | IMPDH1 | c.386T>A (p.Ile129Asn) n.350T>A c.494T>A (p.Ile165Asn) c.141T>A c.464T>A (p.Ile155Asn) c.395T>A (p.Ile132Asn) c.240T>A c.239T>A (p.Ile80Asn) c.*240T>A (n.*240T>A) c.350T>A (p.Ile117Asn) c.287T>A (p.Ile96Asn) n.663T>A n.314T>A c.263T>A (p.Ile88Asn) | |
| 7 | g.128401026T>A | CA369174325 | IMPDH1 | c.385A>T (p.Ile129Phe) n.349A>T c.493A>T (p.Ile165Phe) c.140A>T c.463A>T (p.Ile155Phe) c.394A>T (p.Ile132Phe) c.239A>T c.238A>T (p.Ile80Phe) c.*239A>T (n.*239A>T) c.349A>T (p.Ile117Phe) c.286A>T (p.Ile96Phe) n.662A>T n.313A>T c.262A>T (p.Ile88Phe) | |
| 7 | g.128401026T>C | CA369174326 | IMPDH1 | c.385A>G (p.Ile129Val) n.349A>G c.493A>G (p.Ile165Val) c.140A>G c.463A>G (p.Ile155Val) c.394A>G (p.Ile132Val) c.239A>G c.238A>G (p.Ile80Val) c.*239A>G (n.*239A>G) c.349A>G (p.Ile117Val) c.286A>G (p.Ile96Val) n.662A>G n.313A>G c.262A>G (p.Ile88Val) | |
| 7 | g.128401026T>G | CA369174328 | IMPDH1 | c.385A>C (p.Ile129Leu) n.349A>C c.493A>C (p.Ile165Leu) c.140A>C c.463A>C (p.Ile155Leu) c.394A>C (p.Ile132Leu) c.239A>C c.238A>C (p.Ile80Leu) c.*239A>C (n.*239A>C) c.349A>C (p.Ile117Leu) c.286A>C (p.Ile96Leu) n.662A>C n.313A>C c.262A>C (p.Ile88Leu) | |
| 7 | g.128401027G>A | CA4471149 | IMPDH1 | c.384C>T (p.Ala128=) n.348C>T c.492C>T (p.Ala164=) c.139C>T c.462C>T (p.Ala154=) c.393C>T (p.Ala131=) c.238C>T c.237C>T (p.Ala79=) c.*238C>T (n.*238C>T) c.348C>T (p.Ala116=) c.285C>T (p.Ala95=) n.661C>T n.312C>T c.261C>T (p.Ala87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128401027G>C | CA457528566 | IMPDH1 | c.384C>G (p.Ala128=) n.348C>G c.492C>G (p.Ala164=) c.139C>G c.462C>G (p.Ala154=) c.393C>G (p.Ala131=) c.238C>G c.237C>G (p.Ala79=) c.*238C>G (n.*238C>G) c.348C>G (p.Ala116=) c.285C>G (p.Ala95=) n.661C>G n.312C>G c.261C>G (p.Ala87=) | |
| 7 | g.128401027G= | CA1742334697 | IMPDH1 | c.384C= (p.Ala128=) n.348C= c.492C= (p.Ala164=) c.139C= c.462C= (p.Ala154=) c.393C= (p.Ala131=) c.238C= c.237C= (p.Ala79=) c.*238C= (n.*238C=) c.348C= (p.Ala116=) c.285C= (p.Ala95=) n.661C= n.312C= c.261C= (p.Ala87=) | |
| 7 | g.128401027G>T | CA457528567 | IMPDH1 | c.384C>A (p.Ala128=) n.348C>A c.492C>A (p.Ala164=) c.139C>A c.462C>A (p.Ala154=) c.393C>A (p.Ala131=) c.238C>A c.237C>A (p.Ala79=) c.*238C>A (n.*238C>A) c.348C>A (p.Ala116=) c.285C>A (p.Ala95=) n.661C>A n.312C>A c.261C>A (p.Ala87=) | |
| 7 | g.128401028G>A | CA369174335 | IMPDH1 | c.383C>T (p.Ala128Val) n.347C>T c.491C>T (p.Ala164Val) c.138C>T c.461C>T (p.Ala154Val) c.392C>T (p.Ala131Val) c.237C>T c.236C>T (p.Ala79Val) c.*237C>T (n.*237C>T) c.347C>T (p.Ala116Val) c.284C>T (p.Ala95Val) n.660C>T n.311C>T c.260C>T (p.Ala87Val) | gnomAD v4 |
| 7 | g.128401028G>C | CA369174333 | IMPDH1 | c.383C>G (p.Ala128Gly) n.347C>G c.491C>G (p.Ala164Gly) c.138C>G c.461C>G (p.Ala154Gly) c.392C>G (p.Ala131Gly) c.237C>G c.236C>G (p.Ala79Gly) c.*237C>G (n.*237C>G) c.347C>G (p.Ala116Gly) c.284C>G (p.Ala95Gly) n.660C>G n.311C>G c.260C>G (p.Ala87Gly) | |
| 7 | g.128401028G>T | CA369174331 | IMPDH1 | c.383C>A (p.Ala128Asp) n.347C>A c.491C>A (p.Ala164Asp) c.138C>A c.461C>A (p.Ala154Asp) c.392C>A (p.Ala131Asp) c.237C>A c.236C>A (p.Ala79Asp) c.*237C>A (n.*237C>A) c.347C>A (p.Ala116Asp) c.284C>A (p.Ala95Asp) n.660C>A n.311C>A c.260C>A (p.Ala87Asp) | |
| 7 | g.128401029C>A | CA369174337 | IMPDH1 | c.382G>T (p.Ala128Ser) n.346G>T c.490G>T (p.Ala164Ser) c.137G>T c.460G>T (p.Ala154Ser) c.391G>T (p.Ala131Ser) c.236G>T c.235G>T (p.Ala79Ser) c.*236G>T (n.*236G>T) c.346G>T (p.Ala116Ser) c.283G>T (p.Ala95Ser) n.659G>T n.310G>T c.259G>T (p.Ala87Ser) | |
| 7 | g.128401029C>G | CA369174339 | IMPDH1 | c.382G>C (p.Ala128Pro) n.346G>C c.490G>C (p.Ala164Pro) c.137G>C c.460G>C (p.Ala154Pro) c.391G>C (p.Ala131Pro) c.236G>C c.235G>C (p.Ala79Pro) c.*236G>C (n.*236G>C) c.346G>C (p.Ala116Pro) c.283G>C (p.Ala95Pro) n.659G>C n.310G>C c.259G>C (p.Ala87Pro) | |
| 7 | g.128401029C>T | CA369174341 | IMPDH1 | c.382G>A (p.Ala128Thr) n.346G>A c.490G>A (p.Ala164Thr) c.137G>A c.460G>A (p.Ala154Thr) c.391G>A (p.Ala131Thr) c.236G>A c.235G>A (p.Ala79Thr) c.*236G>A (n.*236G>A) c.346G>A (p.Ala116Thr) c.283G>A (p.Ala95Thr) n.659G>A n.310G>A c.259G>A (p.Ala87Thr) | |
| 7 | g.128401030C>A | CA369174343 | IMPDH1 | c.381G>T (p.Met127Ile) n.345G>T c.489G>T (p.Met163Ile) c.136G>T c.459G>T (p.Met153Ile) c.390G>T (p.Met130Ile) c.235G>T c.234G>T (p.Met78Ile) c.*235G>T (n.*235G>T) c.345G>T (p.Met115Ile) c.282G>T (p.Met94Ile) n.658G>T n.309G>T c.258G>T (p.Met86Ile) | COSMIC COSMIC |
| 7 | g.128401030C>G | CA369174345 | IMPDH1 | c.381G>C (p.Met127Ile) n.345G>C c.489G>C (p.Met163Ile) c.136G>C c.459G>C (p.Met153Ile) c.390G>C (p.Met130Ile) c.235G>C c.234G>C (p.Met78Ile) c.*235G>C (n.*235G>C) c.345G>C (p.Met115Ile) c.282G>C (p.Met94Ile) n.658G>C n.309G>C c.258G>C (p.Met86Ile) | |
| 7 | g.128401030C>T | CA369174346 | IMPDH1 | c.381G>A (p.Met127Ile) n.345G>A c.489G>A (p.Met163Ile) c.136G>A c.459G>A (p.Met153Ile) c.390G>A (p.Met130Ile) c.235G>A c.234G>A (p.Met78Ile) c.*235G>A (n.*235G>A) c.345G>A (p.Met115Ile) c.282G>A (p.Met94Ile) n.658G>A n.309G>A c.258G>A (p.Met86Ile) | |
| 7 | g.128401031A= | CA1742334702 | IMPDH1 | c.380T= (p.Met127=) n.344T= c.488T= (p.Met163=) c.135T= c.458T= (p.Met153=) c.389T= (p.Met130=) c.234T= c.233T= (p.Met78=) c.*234T= (n.*234T=) c.344T= (p.Met115=) c.281T= (p.Met94=) n.657T= n.308T= c.257T= (p.Met86=) | |
| 7 | g.128401031A>C | CA369174352 | IMPDH1 | c.380T>G (p.Met127Arg) n.344T>G c.488T>G (p.Met163Arg) c.135T>G c.458T>G (p.Met153Arg) c.389T>G (p.Met130Arg) c.234T>G c.233T>G (p.Met78Arg) c.*234T>G (n.*234T>G) c.344T>G (p.Met115Arg) c.281T>G (p.Met94Arg) n.657T>G n.308T>G c.257T>G (p.Met86Arg) | |
| 7 | g.128401031A>G | CA369174350 | IMPDH1 | c.380T>C (p.Met127Thr) n.344T>C c.488T>C (p.Met163Thr) c.135T>C c.458T>C (p.Met153Thr) c.389T>C (p.Met130Thr) c.234T>C c.233T>C (p.Met78Thr) c.*234T>C (n.*234T>C) c.344T>C (p.Met115Thr) c.281T>C (p.Met94Thr) n.657T>C n.308T>C c.257T>C (p.Met86Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128401031A>T | CA369174349 | IMPDH1 | c.380T>A (p.Met127Lys) n.344T>A c.488T>A (p.Met163Lys) c.135T>A c.458T>A (p.Met153Lys) c.389T>A (p.Met130Lys) c.234T>A c.233T>A (p.Met78Lys) c.*234T>A (n.*234T>A) c.344T>A (p.Met115Lys) c.281T>A (p.Met94Lys) n.657T>A n.308T>A c.257T>A (p.Met86Lys) | |
| 7 | g.128401032T>A | CA369174354 | IMPDH1 | c.379A>T (p.Met127Leu) n.343A>T c.487A>T (p.Met163Leu) c.134A>T c.457A>T (p.Met153Leu) c.388A>T (p.Met130Leu) c.233A>T c.232A>T (p.Met78Leu) c.*233A>T (n.*233A>T) c.343A>T (p.Met115Leu) c.280A>T (p.Met94Leu) n.656A>T n.307A>T c.256A>T (p.Met86Leu) | |
| 7 | g.128401032T>C | CA369174356 | IMPDH1 | c.379A>G (p.Met127Val) n.343A>G c.487A>G (p.Met163Val) c.134A>G c.457A>G (p.Met153Val) c.388A>G (p.Met130Val) c.233A>G c.232A>G (p.Met78Val) c.*233A>G (n.*233A>G) c.343A>G (p.Met115Val) c.280A>G (p.Met94Val) n.656A>G n.307A>G c.256A>G (p.Met86Val) | dbSNP gnomAD v4 |
| 7 | g.128401032T>G | CA4471150 | IMPDH1 | c.379A>C (p.Met127Leu) n.343A>C c.487A>C (p.Met163Leu) c.134A>C c.457A>C (p.Met153Leu) c.388A>C (p.Met130Leu) c.233A>C c.232A>C (p.Met78Leu) c.*233A>C (n.*233A>C) c.343A>C (p.Met115Leu) c.280A>C (p.Met94Leu) n.656A>C n.307A>C c.256A>C (p.Met86Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.128401032T= | CA1742334706 | IMPDH1 | c.379A= (p.Met127=) n.343A= c.487A= (p.Met163=) c.134A= c.457A= (p.Met153=) c.388A= (p.Met130=) c.233A= c.232A= (p.Met78=) c.*233A= (n.*233A=) c.343A= (p.Met115=) c.280A= (p.Met94=) n.656A= n.307A= c.256A= (p.Met86=) | |
| 7 | g.128401033G>A | CA457528574 | IMPDH1 | c.378C>T (p.Asp126=) n.342C>T c.486C>T (p.Asp162=) c.133C>T c.456C>T (p.Asp152=) c.387C>T (p.Asp129=) c.232C>T c.231C>T (p.Asp77=) c.*232C>T (n.*232C>T) c.342C>T (p.Asp114=) c.279C>T (p.Asp93=) n.655C>T n.306C>T c.255C>T (p.Asp85=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.128401033G>C | CA369174358 | IMPDH1 | c.378C>G (p.Asp126Glu) n.342C>G c.486C>G (p.Asp162Glu) c.133C>G c.456C>G (p.Asp152Glu) c.387C>G (p.Asp129Glu) c.232C>G c.231C>G (p.Asp77Glu) c.*232C>G (n.*232C>G) c.342C>G (p.Asp114Glu) c.279C>G (p.Asp93Glu) n.655C>G n.306C>G c.255C>G (p.Asp85Glu) | |
| 7 | g.128401033G= | CA1742334713 | IMPDH1 | c.378C= (p.Asp126=) n.342C= c.486C= (p.Asp162=) c.133C= c.456C= (p.Asp152=) c.387C= (p.Asp129=) c.232C= c.231C= (p.Asp77=) c.*232C= (n.*232C=) c.342C= (p.Asp114=) c.279C= (p.Asp93=) n.655C= n.306C= c.255C= (p.Asp85=) | |
| 7 | g.128401033G>T | CA369174360 | IMPDH1 | c.378C>A (p.Asp126Glu) n.342C>A c.486C>A (p.Asp162Glu) c.133C>A c.456C>A (p.Asp152Glu) c.387C>A (p.Asp129Glu) c.232C>A c.231C>A (p.Asp77Glu) c.*232C>A (n.*232C>A) c.342C>A (p.Asp114Glu) c.279C>A (p.Asp93Glu) n.655C>A n.306C>A c.255C>A (p.Asp85Glu) | |
| 7 | g.128401034T>A | CA369174367 | IMPDH1 | c.377A>T (p.Asp126Val) n.341A>T c.485A>T (p.Asp162Val) c.132A>T c.455A>T (p.Asp152Val) c.386A>T (p.Asp129Val) c.231A>T c.230A>T (p.Asp77Val) c.*231A>T (n.*231A>T) c.341A>T (p.Asp114Val) c.278A>T (p.Asp93Val) n.654A>T n.305A>T c.254A>T (p.Asp85Val) | |
| 7 | g.128401034T>C | CA369174365 | IMPDH1 | c.377A>G (p.Asp126Gly) n.341A>G c.485A>G (p.Asp162Gly) c.132A>G c.455A>G (p.Asp152Gly) c.386A>G (p.Asp129Gly) c.231A>G c.230A>G (p.Asp77Gly) c.*231A>G (n.*231A>G) c.341A>G (p.Asp114Gly) c.278A>G (p.Asp93Gly) n.654A>G n.305A>G c.254A>G (p.Asp85Gly) | |
| 7 | g.128401034T>G | CA369174363 | IMPDH1 | c.377A>C (p.Asp126Ala) n.341A>C c.485A>C (p.Asp162Ala) c.132A>C c.455A>C (p.Asp152Ala) c.386A>C (p.Asp129Ala) c.231A>C c.230A>C (p.Asp77Ala) c.*231A>C (n.*231A>C) c.341A>C (p.Asp114Ala) c.278A>C (p.Asp93Ala) n.654A>C n.305A>C c.254A>C (p.Asp85Ala) | |
| 7 | g.128401035C>A | CA369174369 | IMPDH1 | c.376G>T (p.Asp126Tyr) n.340G>T c.484G>T (p.Asp162Tyr) c.131G>T c.454G>T (p.Asp152Tyr) c.385G>T (p.Asp129Tyr) c.230G>T c.229G>T (p.Asp77Tyr) c.*230G>T (n.*230G>T) c.340G>T (p.Asp114Tyr) c.277G>T (p.Asp93Tyr) n.653G>T n.304G>T c.253G>T (p.Asp85Tyr) | COSMIC |
| 7 | g.128401035C= | CA1742334720 | IMPDH1 | c.376G= (p.Asp126=) n.340G= c.484G= (p.Asp162=) c.131G= c.454G= (p.Asp152=) c.385G= (p.Asp129=) c.230G= c.229G= (p.Asp77=) c.*230G= (n.*230G=) c.340G= (p.Asp114=) c.277G= (p.Asp93=) n.653G= n.304G= c.253G= (p.Asp85=) | |
| 7 | g.128401035C>G | CA369174371 | IMPDH1 | c.376G>C (p.Asp126His) n.340G>C c.484G>C (p.Asp162His) c.131G>C c.454G>C (p.Asp152His) c.385G>C (p.Asp129His) c.230G>C c.229G>C (p.Asp77His) c.*230G>C (n.*230G>C) c.340G>C (p.Asp114His) c.277G>C (p.Asp93His) n.653G>C n.304G>C c.253G>C (p.Asp85His) | |
| 7 | g.128401035C>T | CA369174373 | IMPDH1 | c.376G>A (p.Asp126Asn) n.340G>A c.484G>A (p.Asp162Asn) c.131G>A c.454G>A (p.Asp152Asn) c.385G>A (p.Asp129Asn) c.230G>A c.229G>A (p.Asp77Asn) c.*230G>A (n.*230G>A) c.340G>A (p.Asp114Asn) c.277G>A (p.Asp93Asn) n.653G>A n.304G>A c.253G>A (p.Asp85Asn) | ClinVar dbSNP gnomAD v4 |
| 7 | g.128401036A>C | CA457528578 | IMPDH1 | c.375T>G (p.Ala125=) n.339T>G c.483T>G (p.Ala161=) c.130T>G c.453T>G (p.Ala151=) c.384T>G (p.Ala128=) c.229T>G c.228T>G (p.Ala76=) c.*229T>G (n.*229T>G) c.339T>G (p.Ala113=) c.276T>G (p.Ala92=) n.652T>G n.303T>G c.252T>G (p.Ala84=) | |
| 7 | g.128401036A>G | CA457528580 | IMPDH1 | c.375T>C (p.Ala125=) n.339T>C c.483T>C (p.Ala161=) c.130T>C c.453T>C (p.Ala151=) c.384T>C (p.Ala128=) c.229T>C c.228T>C (p.Ala76=) c.*229T>C (n.*229T>C) c.339T>C (p.Ala113=) c.276T>C (p.Ala92=) n.652T>C n.303T>C c.252T>C (p.Ala84=) | |
| 7 | g.128401036A>T | CA457528581 | IMPDH1 | c.375T>A (p.Ala125=) n.339T>A c.483T>A (p.Ala161=) c.130T>A c.453T>A (p.Ala151=) c.384T>A (p.Ala128=) c.229T>A c.228T>A (p.Ala76=) c.*229T>A (n.*229T>A) c.339T>A (p.Ala113=) c.276T>A (p.Ala92=) n.652T>A n.303T>A c.252T>A (p.Ala84=) | |
| 7 | g.128401037G>A | CA369174375 | IMPDH1 | c.374C>T (p.Ala125Val) n.338C>T c.482C>T (p.Ala161Val) c.129C>T c.452C>T (p.Ala151Val) c.383C>T (p.Ala128Val) c.228C>T c.227C>T (p.Ala76Val) c.*228C>T (n.*228C>T) c.338C>T (p.Ala113Val) c.275C>T (p.Ala92Val) n.651C>T n.302C>T c.251C>T (p.Ala84Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.128401037G>C | CA369174377 | IMPDH1 | c.374C>G (p.Ala125Gly) n.338C>G c.482C>G (p.Ala161Gly) c.129C>G c.452C>G (p.Ala151Gly) c.383C>G (p.Ala128Gly) c.228C>G c.227C>G (p.Ala76Gly) c.*228C>G (n.*228C>G) c.338C>G (p.Ala113Gly) c.275C>G (p.Ala92Gly) n.651C>G n.302C>G c.251C>G (p.Ala84Gly) | |
| 7 | g.128401037G= | CA1742334723 | IMPDH1 | c.374C= (p.Ala125=) n.338C= c.482C= (p.Ala161=) c.129C= c.452C= (p.Ala151=) c.383C= (p.Ala128=) c.228C= c.227C= (p.Ala76=) c.*228C= (n.*228C=) c.338C= (p.Ala113=) c.275C= (p.Ala92=) n.651C= n.302C= c.251C= (p.Ala84=) | |
| 7 | g.128401037G>T | CA369174379 | IMPDH1 | c.374C>A (p.Ala125Asp) n.338C>A c.482C>A (p.Ala161Asp) c.129C>A c.452C>A (p.Ala151Asp) c.383C>A (p.Ala128Asp) c.228C>A c.227C>A (p.Ala76Asp) c.*228C>A (n.*228C>A) c.338C>A (p.Ala113Asp) c.275C>A (p.Ala92Asp) n.651C>A n.302C>A c.251C>A (p.Ala84Asp) | |
| 7 | g.128401038C>A | CA369174380 | IMPDH1 | c.373G>T (p.Ala125Ser) n.337G>T c.481G>T (p.Ala161Ser) c.128G>T c.451G>T (p.Ala151Ser) c.382G>T (p.Ala128Ser) c.227G>T c.226G>T (p.Ala76Ser) c.*227G>T (n.*227G>T) c.337G>T (p.Ala113Ser) c.274G>T (p.Ala92Ser) n.650G>T n.301G>T c.250G>T (p.Ala84Ser) | |
| 7 | g.128401038C>G | CA369174384 | IMPDH1 | c.373G>C (p.Ala125Pro) n.337G>C c.481G>C (p.Ala161Pro) c.128G>C c.451G>C (p.Ala151Pro) c.382G>C (p.Ala128Pro) c.227G>C c.226G>C (p.Ala76Pro) c.*227G>C (n.*227G>C) c.337G>C (p.Ala113Pro) c.274G>C (p.Ala92Pro) n.650G>C n.301G>C c.250G>C (p.Ala84Pro) | |
| 7 | g.128401038C>T | CA369174382 | IMPDH1 | c.373G>A (p.Ala125Thr) n.337G>A c.481G>A (p.Ala161Thr) c.128G>A c.451G>A (p.Ala151Thr) c.382G>A (p.Ala128Thr) c.227G>A c.226G>A (p.Ala76Thr) c.*227G>A (n.*227G>A) c.337G>A (p.Ala113Thr) c.274G>A (p.Ala92Thr) n.650G>A n.301G>A c.250G>A (p.Ala84Thr) | |
| 7 | g.128401039C>A | CA369174386 | IMPDH1 | c.372G>T (p.Glu124Asp) n.336G>T c.480G>T (p.Glu160Asp) c.127G>T c.450G>T (p.Glu150Asp) c.381G>T (p.Glu127Asp) c.226G>T c.225G>T (p.Glu75Asp) c.*226G>T (n.*226G>T) c.336G>T (p.Glu112Asp) c.273G>T (p.Glu91Asp) n.649G>T n.300G>T c.249G>T (p.Glu83Asp) | |
| 7 | g.128401039C= | CA1742334729 | IMPDH1 | c.372G= (p.Glu124=) n.336G= c.480G= (p.Glu160=) c.127G= c.450G= (p.Glu150=) c.381G= (p.Glu127=) c.226G= c.225G= (p.Glu75=) c.*226G= (n.*226G=) c.336G= (p.Glu112=) c.273G= (p.Glu91=) n.649G= n.300G= c.249G= (p.Glu83=) | |
| 7 | g.128401039C>G | CA369174387 | IMPDH1 | c.372G>C (p.Glu124Asp) n.336G>C c.480G>C (p.Glu160Asp) c.127G>C c.450G>C (p.Glu150Asp) c.381G>C (p.Glu127Asp) c.226G>C c.225G>C (p.Glu75Asp) c.*226G>C (n.*226G>C) c.336G>C (p.Glu112Asp) c.273G>C (p.Glu91Asp) n.649G>C n.300G>C c.249G>C (p.Glu83Asp) | |
| 7 | g.128401039C>T | CA457528584 | IMPDH1 | c.372G>A (p.Glu124=) n.336G>A c.480G>A (p.Glu160=) c.127G>A c.450G>A (p.Glu150=) c.381G>A (p.Glu127=) c.226G>A c.225G>A (p.Glu75=) c.*226G>A (n.*226G>A) c.336G>A (p.Glu112=) c.273G>A (p.Glu91=) n.649G>A n.300G>A c.249G>A (p.Glu83=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128401040T>A | CA369174390 | IMPDH1 | c.371A>T (p.Glu124Val) n.335A>T c.479A>T (p.Glu160Val) c.126A>T c.449A>T (p.Glu150Val) c.380A>T (p.Glu127Val) c.225A>T c.224A>T (p.Glu75Val) c.*225A>T (n.*225A>T) c.335A>T (p.Glu112Val) c.272A>T (p.Glu91Val) n.648A>T n.299A>T c.248A>T (p.Glu83Val) | |
| 7 | g.128401040T>C | CA369174392 | IMPDH1 | c.371A>G (p.Glu124Gly) n.335A>G c.479A>G (p.Glu160Gly) c.126A>G c.449A>G (p.Glu150Gly) c.380A>G (p.Glu127Gly) c.225A>G c.224A>G (p.Glu75Gly) c.*225A>G (n.*225A>G) c.335A>G (p.Glu112Gly) c.272A>G (p.Glu91Gly) n.648A>G n.299A>G c.248A>G (p.Glu83Gly) | |
| 7 | g.128401040T>G | CA369174393 | IMPDH1 | c.371A>C (p.Glu124Ala) n.335A>C c.479A>C (p.Glu160Ala) c.126A>C c.449A>C (p.Glu150Ala) c.380A>C (p.Glu127Ala) c.225A>C c.224A>C (p.Glu75Ala) c.*225A>C (n.*225A>C) c.335A>C (p.Glu112Ala) c.272A>C (p.Glu91Ala) n.648A>C n.299A>C c.248A>C (p.Glu83Ala) | |
| 7 | g.128401041C>A | CA369174395 | IMPDH1 | c.370G>T (p.Glu124Ter) n.334G>T c.478G>T (p.Glu160Ter) c.125G>T c.448G>T (p.Glu150Ter) c.379G>T (p.Glu127Ter) c.224G>T c.223G>T (p.Glu75Ter) c.*224G>T (n.*224G>T) c.334G>T (p.Glu112Ter) c.271G>T (p.Glu91Ter) n.647G>T n.298G>T c.247G>T (p.Glu83Ter) | |
| 7 | g.128401041C>G | CA369174396 | IMPDH1 | c.370G>C (p.Glu124Gln) n.334G>C c.478G>C (p.Glu160Gln) c.125G>C c.448G>C (p.Glu150Gln) c.379G>C (p.Glu127Gln) c.224G>C c.223G>C (p.Glu75Gln) c.*224G>C (n.*224G>C) c.334G>C (p.Glu112Gln) c.271G>C (p.Glu91Gln) n.647G>C n.298G>C c.247G>C (p.Glu83Gln) | |
| 7 | g.128401041C>T | CA369174398 | IMPDH1 | c.370G>A (p.Glu124Lys) n.334G>A c.478G>A (p.Glu160Lys) c.125G>A c.448G>A (p.Glu150Lys) c.379G>A (p.Glu127Lys) c.224G>A c.223G>A (p.Glu75Lys) c.*224G>A (n.*224G>A) c.334G>A (p.Glu112Lys) c.271G>A (p.Glu91Lys) n.647G>A n.298G>A c.247G>A (p.Glu83Lys) | |
| 7 | g.128401042T>A | CA457528586 | IMPDH1 | c.369A>T (p.Thr123=) n.333A>T c.477A>T (p.Thr159=) c.124A>T c.447A>T (p.Thr149=) c.378A>T (p.Thr126=) c.223A>T c.222A>T (p.Thr74=) c.*223A>T (n.*223A>T) c.333A>T (p.Thr111=) c.270A>T (p.Thr90=) n.646A>T n.297A>T c.246A>T (p.Thr82=) | |
| 7 | g.128401042T>C | CA457528587 | IMPDH1 | c.369A>G (p.Thr123=) n.333A>G c.477A>G (p.Thr159=) c.124A>G c.447A>G (p.Thr149=) c.378A>G (p.Thr126=) c.223A>G c.222A>G (p.Thr74=) c.*223A>G (n.*223A>G) c.333A>G (p.Thr111=) c.270A>G (p.Thr90=) n.646A>G n.297A>G c.246A>G (p.Thr82=) | gnomAD v4 |
| 7 | g.128401042T>G | CA457528588 | IMPDH1 | c.369A>C (p.Thr123=) n.333A>C c.477A>C (p.Thr159=) c.124A>C c.447A>C (p.Thr149=) c.378A>C (p.Thr126=) c.223A>C c.222A>C (p.Thr74=) c.*223A>C (n.*223A>C) c.333A>C (p.Thr111=) c.270A>C (p.Thr90=) n.646A>C n.297A>C c.246A>C (p.Thr82=) | |
| 7 | g.128401043G>A | CA369174400 | IMPDH1 | c.368C>T (p.Thr123Ile) n.332C>T c.476C>T (p.Thr159Ile) c.123C>T c.446C>T (p.Thr149Ile) c.377C>T (p.Thr126Ile) c.222C>T c.221C>T (p.Thr74Ile) c.*222C>T (n.*222C>T) c.332C>T (p.Thr111Ile) c.269C>T (p.Thr90Ile) n.645C>T n.296C>T c.245C>T (p.Thr82Ile) | |
| 7 | g.128401043G>C | CA369174402 | IMPDH1 | c.368C>G (p.Thr123Arg) n.332C>G c.476C>G (p.Thr159Arg) c.123C>G c.446C>G (p.Thr149Arg) c.377C>G (p.Thr126Arg) c.222C>G c.221C>G (p.Thr74Arg) c.*222C>G (n.*222C>G) c.332C>G (p.Thr111Arg) c.269C>G (p.Thr90Arg) n.645C>G n.296C>G c.245C>G (p.Thr82Arg) | |
| 7 | g.128401043G>T | CA369174404 | IMPDH1 | c.368C>A (p.Thr123Lys) n.332C>A c.476C>A (p.Thr159Lys) c.123C>A c.446C>A (p.Thr149Lys) c.377C>A (p.Thr126Lys) c.222C>A c.221C>A (p.Thr74Lys) c.*222C>A (n.*222C>A) c.332C>A (p.Thr111Lys) c.269C>A (p.Thr90Lys) n.645C>A n.296C>A c.245C>A (p.Thr82Lys) | gnomAD v4 |
| 7 | g.128401044T>A | CA369174410 | IMPDH1 | c.367A>T (p.Thr123Ser) n.331A>T c.475A>T (p.Thr159Ser) c.122A>T c.445A>T (p.Thr149Ser) c.376A>T (p.Thr126Ser) c.221A>T c.220A>T (p.Thr74Ser) c.*221A>T (n.*221A>T) c.331A>T (p.Thr111Ser) c.268A>T (p.Thr90Ser) n.644A>T n.295A>T c.244A>T (p.Thr82Ser) | |
| 7 | g.128401044T>C | CA369174408 | IMPDH1 | c.367A>G (p.Thr123Ala) n.331A>G c.475A>G (p.Thr159Ala) c.122A>G c.445A>G (p.Thr149Ala) c.376A>G (p.Thr126Ala) c.221A>G c.220A>G (p.Thr74Ala) c.*221A>G (n.*221A>G) c.331A>G (p.Thr111Ala) c.268A>G (p.Thr90Ala) n.644A>G n.295A>G c.244A>G (p.Thr82Ala) | gnomAD v4 |
| 7 | g.128401044T>G | CA369174406 | IMPDH1 | c.367A>C (p.Thr123Pro) n.331A>C c.475A>C (p.Thr159Pro) c.122A>C c.445A>C (p.Thr149Pro) c.376A>C (p.Thr126Pro) c.221A>C c.220A>C (p.Thr74Pro) c.*221A>C (n.*221A>C) c.331A>C (p.Thr111Pro) c.268A>C (p.Thr90Pro) n.644A>C n.295A>C c.244A>C (p.Thr82Pro) | |
| 7 | g.128401045C>A | CA457528589 | IMPDH1 | c.366G>T (p.Val122=) n.330G>T c.474G>T (p.Val158=) c.121G>T c.444G>T (p.Val148=) c.375G>T (p.Val125=) c.220G>T c.219G>T (p.Val73=) c.*220G>T (n.*220G>T) c.330G>T (p.Val110=) c.267G>T (p.Val89=) n.643G>T n.294G>T c.243G>T (p.Val81=) | |
| 7 | g.128401045C>G | CA457528591 | IMPDH1 | c.366G>C (p.Val122=) n.330G>C c.474G>C (p.Val158=) c.121G>C c.444G>C (p.Val148=) c.375G>C (p.Val125=) c.220G>C c.219G>C (p.Val73=) c.*220G>C (n.*220G>C) c.330G>C (p.Val110=) c.267G>C (p.Val89=) n.643G>C n.294G>C c.243G>C (p.Val81=) | |
| 7 | g.128401045C>T | CA457528590 | IMPDH1 | c.366G>A (p.Val122=) n.330G>A c.474G>A (p.Val158=) c.121G>A c.444G>A (p.Val148=) c.375G>A (p.Val125=) c.220G>A c.219G>A (p.Val73=) c.*220G>A (n.*220G>A) c.330G>A (p.Val110=) c.267G>A (p.Val89=) n.643G>A n.294G>A c.243G>A (p.Val81=) | |
| 7 | g.128401047_128401048del | CA2684778684 | IMPDH1 | c.365_366del (p.Val122AspfsTer4) n.329_330del c.473_474del (p.Val158AspfsTer4) c.120_121del c.443_444del (p.Val148AspfsTer4) c.374_375del (p.Val125AspfsTer4) c.219_220del c.218_219del (p.Val73AspfsTer4) c.*219_*220del (n.*219_*220del) c.329_330del (p.Val110AspfsTer4) c.266_267del (p.Val89AspfsTer4) n.642_643del n.293_294del c.242_243del (p.Val81AspfsTer4) | gnomAD v4 |
| 7 | g.128401046A>C | CA369174412 | IMPDH1 | c.365T>G (p.Val122Gly) n.329T>G c.473T>G (p.Val158Gly) c.120T>G c.443T>G (p.Val148Gly) c.374T>G (p.Val125Gly) c.219T>G c.218T>G (p.Val73Gly) c.*219T>G (n.*219T>G) c.329T>G (p.Val110Gly) c.266T>G (p.Val89Gly) n.642T>G n.293T>G c.242T>G (p.Val81Gly) | |
| 7 | g.128401046A>G | CA369174415 | IMPDH1 | c.365T>C (p.Val122Ala) n.329T>C c.473T>C (p.Val158Ala) c.120T>C c.443T>C (p.Val148Ala) c.374T>C (p.Val125Ala) c.219T>C c.218T>C (p.Val73Ala) c.*219T>C (n.*219T>C) c.329T>C (p.Val110Ala) c.266T>C (p.Val89Ala) n.642T>C n.293T>C c.242T>C (p.Val81Ala) | gnomAD v4 |
| 7 | g.128401046A>T | CA369174414 | IMPDH1 | c.365T>A (p.Val122Glu) n.329T>A c.473T>A (p.Val158Glu) c.120T>A c.443T>A (p.Val148Glu) c.374T>A (p.Val125Glu) c.219T>A c.218T>A (p.Val73Glu) c.*219T>A (n.*219T>A) c.329T>A (p.Val110Glu) c.266T>A (p.Val89Glu) n.642T>A n.293T>A c.242T>A (p.Val81Glu) | |
| 7 | g.128401047C>A | CA369174417 | IMPDH1 | c.364G>T (p.Val122Leu) n.328G>T c.472G>T (p.Val158Leu) c.119G>T c.442G>T (p.Val148Leu) c.373G>T (p.Val125Leu) c.218G>T c.217G>T (p.Val73Leu) c.*218G>T (n.*218G>T) c.328G>T (p.Val110Leu) c.265G>T (p.Val89Leu) n.641G>T n.292G>T c.241G>T (p.Val81Leu) | |
| 7 | g.128401047C>G | CA369174419 | IMPDH1 | c.364G>C (p.Val122Leu) n.328G>C c.472G>C (p.Val158Leu) c.119G>C c.442G>C (p.Val148Leu) c.373G>C (p.Val125Leu) c.218G>C c.217G>C (p.Val73Leu) c.*218G>C (n.*218G>C) c.328G>C (p.Val110Leu) c.265G>C (p.Val89Leu) n.641G>C n.292G>C c.241G>C (p.Val81Leu) | |
| 7 | g.128401047C>T | CA369174418 | IMPDH1 | c.364G>A (p.Val122Met) n.328G>A c.472G>A (p.Val158Met) c.119G>A c.442G>A (p.Val148Met) c.373G>A (p.Val125Met) c.218G>A c.217G>A (p.Val73Met) c.*218G>A (n.*218G>A) c.328G>A (p.Val110Met) c.265G>A (p.Val89Met) n.641G>A n.292G>A c.241G>A (p.Val81Met) | |
| 7 | g.128401048A>C | CA457528592 | IMPDH1 | c.363T>G (p.Thr121=) n.327T>G c.471T>G (p.Thr157=) c.118T>G c.441T>G (p.Thr147=) c.372T>G (p.Thr124=) c.217T>G c.216T>G (p.Thr72=) c.*217T>G (n.*217T>G) c.327T>G (p.Thr109=) c.264T>G (p.Thr88=) n.640T>G n.291T>G c.240T>G (p.Thr80=) | |
| 7 | g.128401048A>G | CA457528593 | IMPDH1 | c.363T>C (p.Thr121=) n.327T>C c.471T>C (p.Thr157=) c.118T>C c.441T>C (p.Thr147=) c.372T>C (p.Thr124=) c.217T>C c.216T>C (p.Thr72=) c.*217T>C (n.*217T>C) c.327T>C (p.Thr109=) c.264T>C (p.Thr88=) n.640T>C n.291T>C c.240T>C (p.Thr80=) | |
| 7 | g.128401048A>T | CA457528594 | IMPDH1 | c.363T>A (p.Thr121=) n.327T>A c.471T>A (p.Thr157=) c.118T>A c.441T>A (p.Thr147=) c.372T>A (p.Thr124=) c.217T>A c.216T>A (p.Thr72=) c.*217T>A (n.*217T>A) c.327T>A (p.Thr109=) c.264T>A (p.Thr88=) n.640T>A n.291T>A c.240T>A (p.Thr80=) | |
| 7 | g.128401049G>A | CA369174422 | IMPDH1 | c.362C>T (p.Thr121Ile) n.326C>T c.470C>T (p.Thr157Ile) c.117C>T c.440C>T (p.Thr147Ile) c.371C>T (p.Thr124Ile) c.216C>T c.215C>T (p.Thr72Ile) c.*216C>T (n.*216C>T) c.326C>T (p.Thr109Ile) c.263C>T (p.Thr88Ile) n.639C>T n.290C>T c.239C>T (p.Thr80Ile) | |
| 7 | g.128401049G>C | CA369174423 | IMPDH1 | c.362C>G (p.Thr121Ser) n.326C>G c.470C>G (p.Thr157Ser) c.117C>G c.440C>G (p.Thr147Ser) c.371C>G (p.Thr124Ser) c.216C>G c.215C>G (p.Thr72Ser) c.*216C>G (n.*216C>G) c.326C>G (p.Thr109Ser) c.263C>G (p.Thr88Ser) n.639C>G n.290C>G c.239C>G (p.Thr80Ser) | |
| 7 | g.128401049G>T | CA369174426 | IMPDH1 | c.362C>A (p.Thr121Asn) n.326C>A c.470C>A (p.Thr157Asn) c.117C>A c.440C>A (p.Thr147Asn) c.371C>A (p.Thr124Asn) c.216C>A c.215C>A (p.Thr72Asn) c.*216C>A (n.*216C>A) c.326C>A (p.Thr109Asn) c.263C>A (p.Thr88Asn) n.639C>A n.290C>A c.239C>A (p.Thr80Asn) | |
| 7 | g.128401050T>A | CA369174428 | IMPDH1 | c.361A>T (p.Thr121Ser) n.325A>T c.469A>T (p.Thr157Ser) c.116A>T c.439A>T (p.Thr147Ser) c.370A>T (p.Thr124Ser) c.215A>T c.214A>T (p.Thr72Ser) c.*215A>T (n.*215A>T) c.325A>T (p.Thr109Ser) c.262A>T (p.Thr88Ser) n.638A>T n.289A>T c.238A>T (p.Thr80Ser) | |
| 7 | g.128401050T>C | CA369174429 | IMPDH1 | c.361A>G (p.Thr121Ala) n.325A>G c.469A>G (p.Thr157Ala) c.116A>G c.439A>G (p.Thr147Ala) c.370A>G (p.Thr124Ala) c.215A>G c.214A>G (p.Thr72Ala) c.*215A>G (n.*215A>G) c.325A>G (p.Thr109Ala) c.262A>G (p.Thr88Ala) n.638A>G n.289A>G c.238A>G (p.Thr80Ala) | |
| 7 | g.128401050T>G | CA369174431 | IMPDH1 | c.361A>C (p.Thr121Pro) n.325A>C c.469A>C (p.Thr157Pro) c.116A>C c.439A>C (p.Thr147Pro) c.370A>C (p.Thr124Pro) c.215A>C c.214A>C (p.Thr72Pro) c.*215A>C (n.*215A>C) c.325A>C (p.Thr109Pro) c.262A>C (p.Thr88Pro) n.638A>C n.289A>C c.238A>C (p.Thr80Pro) | |
| 7 | g.128401051G>A | CA457528597 | IMPDH1 | c.360C>T (p.Asp120=) n.324C>T c.468C>T (p.Asp156=) c.115C>T c.438C>T (p.Asp146=) c.369C>T (p.Asp123=) c.214C>T c.213C>T (p.Asp71=) c.*214C>T (n.*214C>T) c.324C>T (p.Asp108=) c.261C>T (p.Asp87=) n.637C>T n.288C>T c.237C>T (p.Asp79=) | |
| 7 | g.128401051G>C | CA369174433 | IMPDH1 | c.360C>G (p.Asp120Glu) n.324C>G c.468C>G (p.Asp156Glu) c.115C>G c.438C>G (p.Asp146Glu) c.369C>G (p.Asp123Glu) c.214C>G c.213C>G (p.Asp71Glu) c.*214C>G (n.*214C>G) c.324C>G (p.Asp108Glu) c.261C>G (p.Asp87Glu) n.637C>G n.288C>G c.237C>G (p.Asp79Glu) | |
| 7 | g.128401051G>T | CA369174435 | IMPDH1 | c.360C>A (p.Asp120Glu) n.324C>A c.468C>A (p.Asp156Glu) c.115C>A c.438C>A (p.Asp146Glu) c.369C>A (p.Asp123Glu) c.214C>A c.213C>A (p.Asp71Glu) c.*214C>A (n.*214C>A) c.324C>A (p.Asp108Glu) c.261C>A (p.Asp87Glu) n.637C>A n.288C>A c.237C>A (p.Asp79Glu) | |
| 7 | g.128401052T>A | CA369174437 | IMPDH1 | c.359A>T (p.Asp120Val) n.323A>T c.467A>T (p.Asp156Val) c.114A>T c.437A>T (p.Asp146Val) c.368A>T (p.Asp123Val) c.213A>T c.212A>T (p.Asp71Val) c.*213A>T (n.*213A>T) c.323A>T (p.Asp108Val) c.260A>T (p.Asp87Val) n.636A>T n.287A>T c.236A>T (p.Asp79Val) | |
| 7 | g.128401052T>C | CA369174439 | IMPDH1 | c.359A>G (p.Asp120Gly) n.323A>G c.467A>G (p.Asp156Gly) c.114A>G c.437A>G (p.Asp146Gly) c.368A>G (p.Asp123Gly) c.213A>G c.212A>G (p.Asp71Gly) c.*213A>G (n.*213A>G) c.323A>G (p.Asp108Gly) c.260A>G (p.Asp87Gly) n.636A>G n.287A>G c.236A>G (p.Asp79Gly) | |
| 7 | g.128401052T>G | CA369174440 | IMPDH1 | c.359A>C (p.Asp120Ala) n.323A>C c.467A>C (p.Asp156Ala) c.114A>C c.437A>C (p.Asp146Ala) c.368A>C (p.Asp123Ala) c.213A>C c.212A>C (p.Asp71Ala) c.*213A>C (n.*213A>C) c.323A>C (p.Asp108Ala) c.260A>C (p.Asp87Ala) n.636A>C n.287A>C c.236A>C (p.Asp79Ala) | |
| 7 | g.128401053C>A | CA369174445 | IMPDH1 | c.358G>T (p.Asp120Tyr) n.322G>T c.466G>T (p.Asp156Tyr) c.113G>T c.436G>T (p.Asp146Tyr) c.367G>T (p.Asp123Tyr) c.212G>T c.211G>T (p.Asp71Tyr) c.*212G>T (n.*212G>T) c.322G>T (p.Asp108Tyr) c.259G>T (p.Asp87Tyr) n.635G>T n.286G>T c.235G>T (p.Asp79Tyr) | |
| 7 | g.128401053C>G | CA369174441 | IMPDH1 | c.358G>C (p.Asp120His) n.322G>C c.466G>C (p.Asp156His) c.113G>C c.436G>C (p.Asp146His) c.367G>C (p.Asp123His) c.212G>C c.211G>C (p.Asp71His) c.*212G>C (n.*212G>C) c.322G>C (p.Asp108His) c.259G>C (p.Asp87His) n.635G>C n.286G>C c.235G>C (p.Asp79His) | |
| 7 | g.128401053C>T | CA369174443 | IMPDH1 | c.358G>A (p.Asp120Asn) n.322G>A c.466G>A (p.Asp156Asn) c.113G>A c.436G>A (p.Asp146Asn) c.367G>A (p.Asp123Asn) c.212G>A c.211G>A (p.Asp71Asn) c.*212G>A (n.*212G>A) c.322G>A (p.Asp108Asn) c.259G>A (p.Asp87Asn) n.635G>A n.286G>A c.235G>A (p.Asp79Asn) | |
| 7 | g.128401054C>A | CA369174447 | IMPDH1 | c.357G>T (p.Met119Ile) n.321G>T c.465G>T (p.Met155Ile) c.112G>T c.435G>T (p.Met145Ile) c.366G>T (p.Met122Ile) c.211G>T c.210G>T (p.Met70Ile) c.*211G>T (n.*211G>T) c.321G>T (p.Met107Ile) c.258G>T (p.Met86Ile) n.634G>T n.285G>T c.234G>T (p.Met78Ile) | |
| 7 | g.128401054C>G | CA369174449 | IMPDH1 | c.357G>C (p.Met119Ile) n.321G>C c.465G>C (p.Met155Ile) c.112G>C c.435G>C (p.Met145Ile) c.366G>C (p.Met122Ile) c.211G>C c.210G>C (p.Met70Ile) c.*211G>C (n.*211G>C) c.321G>C (p.Met107Ile) c.258G>C (p.Met86Ile) n.634G>C n.285G>C c.234G>C (p.Met78Ile) | |
| 7 | g.128401054C>T | CA369174451 | IMPDH1 | c.357G>A (p.Met119Ile) n.321G>A c.465G>A (p.Met155Ile) c.112G>A c.435G>A (p.Met145Ile) c.366G>A (p.Met122Ile) c.211G>A c.210G>A (p.Met70Ile) c.*211G>A (n.*211G>A) c.321G>A (p.Met107Ile) c.258G>A (p.Met86Ile) n.634G>A n.285G>A c.234G>A (p.Met78Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.128401055A>C | CA369174453 | IMPDH1 | c.356T>G (p.Met119Arg) n.320T>G c.464T>G (p.Met155Arg) c.111T>G c.434T>G (p.Met145Arg) c.365T>G (p.Met122Arg) c.210T>G c.209T>G (p.Met70Arg) c.*210T>G (n.*210T>G) c.320T>G (p.Met107Arg) c.257T>G (p.Met86Arg) n.633T>G n.284T>G c.233T>G (p.Met78Arg) | |
| 7 | g.128401055A>G | CA369174455 | IMPDH1 | c.356T>C (p.Met119Thr) n.320T>C c.464T>C (p.Met155Thr) c.111T>C c.434T>C (p.Met145Thr) c.365T>C (p.Met122Thr) c.210T>C c.209T>C (p.Met70Thr) c.*210T>C (n.*210T>C) c.320T>C (p.Met107Thr) c.257T>C (p.Met86Thr) n.633T>C n.284T>C c.233T>C (p.Met78Thr) | |
| 7 | g.128401055A>T | CA369174457 | IMPDH1 | c.356T>A (p.Met119Lys) n.320T>A c.464T>A (p.Met155Lys) c.111T>A c.434T>A (p.Met145Lys) c.365T>A (p.Met122Lys) c.210T>A c.209T>A (p.Met70Lys) c.*210T>A (n.*210T>A) c.320T>A (p.Met107Lys) c.257T>A (p.Met86Lys) n.633T>A n.284T>A c.233T>A (p.Met78Lys) | |
| 7 | g.128401055_128401056insC | CA2684778685 | IMPDH1 | c.355_356insG (p.Met119SerfsTer8) n.319_320insG c.463_464insG (p.Met155SerfsTer8) c.110_111insG c.433_434insG (p.Met145SerfsTer8) c.364_365insG (p.Met122SerfsTer8) c.209_210insG c.208_209insG (p.Met70SerfsTer8) c.*209_*210insG (n.*209_*210insG) c.319_320insG (p.Met107SerfsTer8) c.256_257insG (p.Met86SerfsTer8) n.632_633insG n.283_284insG c.232_233insG (p.Met78SerfsTer8) | gnomAD v4 |
| 7 | g.128401056T>A | CA369174459 | IMPDH1 | c.355A>T (p.Met119Leu) n.319A>T c.463A>T (p.Met155Leu) c.110A>T c.433A>T (p.Met145Leu) c.364A>T (p.Met122Leu) c.209A>T c.208A>T (p.Met70Leu) c.*209A>T (n.*209A>T) c.319A>T (p.Met107Leu) c.256A>T (p.Met86Leu) n.632A>T n.283A>T c.232A>T (p.Met78Leu) | |
| 7 | g.128401056T>C | CA4471151 | IMPDH1 | c.355A>G (p.Met119Val) n.319A>G c.463A>G (p.Met155Val) c.110A>G c.433A>G (p.Met145Val) c.364A>G (p.Met122Val) c.209A>G c.208A>G (p.Met70Val) c.*209A>G (n.*209A>G) c.319A>G (p.Met107Val) c.256A>G (p.Met86Val) n.632A>G n.283A>G c.232A>G (p.Met78Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128401056T>G | CA369174461 | IMPDH1 | c.355A>C (p.Met119Leu) n.319A>C c.463A>C (p.Met155Leu) c.110A>C c.433A>C (p.Met145Leu) c.364A>C (p.Met122Leu) c.209A>C c.208A>C (p.Met70Leu) c.*209A>C (n.*209A>C) c.319A>C (p.Met107Leu) c.256A>C (p.Met86Leu) n.632A>C n.283A>C c.232A>C (p.Met78Leu) | gnomAD v4 |
| 7 | g.128401056T= | CA1742334744 | IMPDH1 | c.355A= (p.Met119=) n.319A= c.463A= (p.Met155=) c.110A= c.433A= (p.Met145=) c.364A= (p.Met122=) c.209A= c.208A= (p.Met70=) c.*209A= (n.*209A=) c.319A= (p.Met107=) c.256A= (p.Met86=) n.632A= n.283A= c.232A= (p.Met78=) | |
| 7 | g.128401057G>A | CA4471152 | IMPDH1 | c.354C>T (p.Pro118=) n.318C>T c.462C>T (p.Pro154=) c.109C>T c.432C>T (p.Pro144=) c.363C>T (p.Pro121=) c.208C>T c.207C>T (p.Pro69=) c.*208C>T (n.*208C>T) c.318C>T (p.Pro106=) c.255C>T (p.Pro85=) n.631C>T n.282C>T c.231C>T (p.Pro77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.128401057G>C | CA457528600 | IMPDH1 | c.354C>G (p.Pro118=) n.318C>G c.462C>G (p.Pro154=) c.109C>G c.432C>G (p.Pro144=) c.363C>G (p.Pro121=) c.208C>G c.207C>G (p.Pro69=) c.*208C>G (n.*208C>G) c.318C>G (p.Pro106=) c.255C>G (p.Pro85=) n.631C>G n.282C>G c.231C>G (p.Pro77=) | gnomAD v4 |
| 7 | g.128401057G= | CA1742334748 | IMPDH1 | c.354C= (p.Pro118=) n.318C= c.462C= (p.Pro154=) c.109C= c.432C= (p.Pro144=) c.363C= (p.Pro121=) c.208C= c.207C= (p.Pro69=) c.*208C= (n.*208C=) c.318C= (p.Pro106=) c.255C= (p.Pro85=) n.631C= n.282C= c.231C= (p.Pro77=) | |
| 7 | g.128401057G>T | CA457528601 | IMPDH1 | c.354C>A (p.Pro118=) n.318C>A c.462C>A (p.Pro154=) c.109C>A c.432C>A (p.Pro144=) c.363C>A (p.Pro121=) c.208C>A c.207C>A (p.Pro69=) c.*208C>A (n.*208C>A) c.318C>A (p.Pro106=) c.255C>A (p.Pro85=) n.631C>A n.282C>A c.231C>A (p.Pro77=) | dbSNP gnomAD v4 |
| 7 | g.128401058G>A | CA369174467 | IMPDH1 | c.353C>T (p.Pro118Leu) n.317C>T c.461C>T (p.Pro154Leu) c.108C>T c.431C>T (p.Pro144Leu) c.362C>T (p.Pro121Leu) c.207C>T c.206C>T (p.Pro69Leu) c.*207C>T (n.*207C>T) c.317C>T (p.Pro106Leu) c.254C>T (p.Pro85Leu) n.630C>T n.281C>T c.230C>T (p.Pro77Leu) | |
| 7 | g.128401058G>C | CA369174468 | IMPDH1 | c.353C>G (p.Pro118Arg) n.317C>G c.461C>G (p.Pro154Arg) c.108C>G c.431C>G (p.Pro144Arg) c.362C>G (p.Pro121Arg) c.207C>G c.206C>G (p.Pro69Arg) c.*207C>G (n.*207C>G) c.317C>G (p.Pro106Arg) c.254C>G (p.Pro85Arg) n.630C>G n.281C>G c.230C>G (p.Pro77Arg) | |
| 7 | g.128401058G>T | CA369174465 | IMPDH1 | c.353C>A (p.Pro118His) n.317C>A c.461C>A (p.Pro154His) c.108C>A c.431C>A (p.Pro144His) c.362C>A (p.Pro121His) c.207C>A c.206C>A (p.Pro69His) c.*207C>A (n.*207C>A) c.317C>A (p.Pro106His) c.254C>A (p.Pro85His) n.630C>A n.281C>A c.230C>A (p.Pro77His) | |
| 7 | g.128401059G>A | CA369174469 | IMPDH1 | c.352C>T (p.Pro118Ser) n.316C>T c.460C>T (p.Pro154Ser) c.107C>T c.430C>T (p.Pro144Ser) c.361C>T (p.Pro121Ser) c.206C>T c.205C>T (p.Pro69Ser) c.*206C>T (n.*206C>T) c.316C>T (p.Pro106Ser) c.253C>T (p.Pro85Ser) n.629C>T n.280C>T c.229C>T (p.Pro77Ser) | |
| 7 | g.128401059G>C | CA369174470 | IMPDH1 | c.352C>G (p.Pro118Ala) n.316C>G c.460C>G (p.Pro154Ala) c.107C>G c.430C>G (p.Pro144Ala) c.361C>G (p.Pro121Ala) c.206C>G c.205C>G (p.Pro69Ala) c.*206C>G (n.*206C>G) c.316C>G (p.Pro106Ala) c.253C>G (p.Pro85Ala) n.629C>G n.280C>G c.229C>G (p.Pro77Ala) | ClinVar dbSNP gnomAD v4 |
| 7 | g.128401059G>T | CA369174471 | IMPDH1 | c.352C>A (p.Pro118Thr) n.316C>A c.460C>A (p.Pro154Thr) c.107C>A c.430C>A (p.Pro144Thr) c.361C>A (p.Pro121Thr) c.206C>A c.205C>A (p.Pro69Thr) c.*206C>A (n.*206C>A) c.316C>A (p.Pro106Thr) c.253C>A (p.Pro85Thr) n.629C>A n.280C>A c.229C>A (p.Pro77Thr) | |
| 7 | g.128401060G>A | CA457528602 | IMPDH1 | c.351C>T (p.Ser117=) n.315C>T c.459C>T (p.Ser153=) c.106C>T c.429C>T (p.Ser143=) c.360C>T (p.Ser120=) c.205C>T c.204C>T (p.Ser68=) c.*205C>T (n.*205C>T) c.315C>T (p.Ser105=) c.252C>T (p.Ser84=) n.628C>T n.279C>T c.228C>T (p.Ser76=) | |
| 7 | g.128401060G>C | CA457528603 | IMPDH1 | c.351C>G (p.Ser117=) n.315C>G c.459C>G (p.Ser153=) c.106C>G c.429C>G (p.Ser143=) c.360C>G (p.Ser120=) c.205C>G c.204C>G (p.Ser68=) c.*205C>G (n.*205C>G) c.315C>G (p.Ser105=) c.252C>G (p.Ser84=) n.628C>G n.279C>G c.228C>G (p.Ser76=) | |
| 7 | g.128401060G>T | CA457528604 | IMPDH1 | c.351C>A (p.Ser117=) n.315C>A c.459C>A (p.Ser153=) c.106C>A c.429C>A (p.Ser143=) c.360C>A (p.Ser120=) c.205C>A c.204C>A (p.Ser68=) c.*205C>A (n.*205C>A) c.315C>A (p.Ser105=) c.252C>A (p.Ser84=) n.628C>A n.279C>A c.228C>A (p.Ser76=) | |
| 7 | g.128401064_128401066del | CA2684778687 | IMPDH1 | c.349_351del (p.Ser117del) n.313_315del c.457_459del (p.Ser153del) c.104_106del c.427_429del (p.Ser143del) c.358_360del (p.Ser120del) c.203_205del c.202_204del (p.Ser68del) c.*203_*205del (n.*203_*205del) c.313_315del (p.Ser105del) c.250_252del (p.Ser84del) n.626_628del n.277_279del c.226_228del (p.Ser76del) | gnomAD v4 |
| 7 | g.128401061G>A | CA369174473 | IMPDH1 | c.350C>T (p.Ser117Phe) n.314C>T c.458C>T (p.Ser153Phe) c.105C>T c.428C>T (p.Ser143Phe) c.359C>T (p.Ser120Phe) c.204C>T c.203C>T (p.Ser68Phe) c.*204C>T (n.*204C>T) c.314C>T (p.Ser105Phe) c.251C>T (p.Ser84Phe) n.627C>T n.278C>T c.227C>T (p.Ser76Phe) | ClinVar COSMIC |
| 7 | g.128401061G>C | CA369174475 | IMPDH1 | c.350C>G (p.Ser117Cys) n.314C>G c.458C>G (p.Ser153Cys) c.105C>G c.428C>G (p.Ser143Cys) c.359C>G (p.Ser120Cys) c.204C>G c.203C>G (p.Ser68Cys) c.*204C>G (n.*204C>G) c.314C>G (p.Ser105Cys) c.251C>G (p.Ser84Cys) n.627C>G n.278C>G c.227C>G (p.Ser76Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.128401061G= | CA1742334754 | IMPDH1 | c.350C= (p.Ser117=) n.314C= c.458C= (p.Ser153=) c.105C= c.428C= (p.Ser143=) c.359C= (p.Ser120=) c.204C= c.203C= (p.Ser68=) c.*204C= (n.*204C=) c.314C= (p.Ser105=) c.251C= (p.Ser84=) n.627C= n.278C= c.227C= (p.Ser76=) | |
| 7 | g.128401061G>T | CA369174477 | IMPDH1 | c.350C>A (p.Ser117Tyr) n.314C>A c.458C>A (p.Ser153Tyr) c.105C>A c.428C>A (p.Ser143Tyr) c.359C>A (p.Ser120Tyr) c.204C>A c.203C>A (p.Ser68Tyr) c.*204C>A (n.*204C>A) c.314C>A (p.Ser105Tyr) c.251C>A (p.Ser84Tyr) n.627C>A n.278C>A c.227C>A (p.Ser76Tyr) | |
| 7 | g.128401061_128401062delinsGA | CA1742334772 | IMPDH1 | c.349_350delinsTC (p.Ser117=) n.313_314delinsTC c.457_458delinsTC (p.Ser153=) c.104_105delinsTC c.427_428delinsTC (p.Ser143=) c.358_359delinsTC (p.Ser120=) c.203_204delinsTC c.202_203delinsTC (p.Ser68=) c.*203_*204delinsTC (n.*203_*204delinsTC) c.313_314delinsTC (p.Ser105=) c.250_251delinsTC (p.Ser84=) n.626_627delinsTC n.277_278delinsTC c.226_227delinsTC (p.Ser76=) | |
| 7 | g.128401062del | CA4471153 | IMPDH1 | c.349del (p.Ser117ProfsTer6) n.313del c.457del (p.Ser153ProfsTer6) c.104del c.427del (p.Ser143ProfsTer6) c.358del (p.Ser120ProfsTer6) c.203del c.202del (p.Ser68ProfsTer6) c.*203del (n.*203del) c.313del (p.Ser105ProfsTer6) c.250del (p.Ser84ProfsTer6) n.626del n.277del c.226del (p.Ser76ProfsTer6) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.128401062A= | CA1742334776 | IMPDH1 | c.349T= (p.Ser117=) n.313T= c.457T= (p.Ser153=) c.104T= c.427T= (p.Ser143=) c.358T= (p.Ser120=) c.203T= c.202T= (p.Ser68=) c.*203T= (n.*203T=) c.313T= (p.Ser105=) c.250T= (p.Ser84=) n.626T= n.277T= c.226T= (p.Ser76=) | |
| 7 | g.128401062A>C | CA369174479 | IMPDH1 | c.349T>G (p.Ser117Ala) n.313T>G c.457T>G (p.Ser153Ala) c.104T>G c.427T>G (p.Ser143Ala) c.358T>G (p.Ser120Ala) c.203T>G c.202T>G (p.Ser68Ala) c.*203T>G (n.*203T>G) c.313T>G (p.Ser105Ala) c.250T>G (p.Ser84Ala) n.626T>G n.277T>G c.226T>G (p.Ser76Ala) | |
| 7 | g.128401062A>G | CA369174483 | IMPDH1 | c.349T>C (p.Ser117Pro) n.313T>C c.457T>C (p.Ser153Pro) c.104T>C c.427T>C (p.Ser143Pro) c.358T>C (p.Ser120Pro) c.203T>C c.202T>C (p.Ser68Pro) c.*203T>C (n.*203T>C) c.313T>C (p.Ser105Pro) c.250T>C (p.Ser84Pro) n.626T>C n.277T>C c.226T>C (p.Ser76Pro) | |
| 7 | g.128401062A>T | CA4471154 | IMPDH1 | c.349T>A (p.Ser117Thr) n.313T>A c.457T>A (p.Ser153Thr) c.104T>A c.427T>A (p.Ser143Thr) c.358T>A (p.Ser120Thr) c.203T>A c.202T>A (p.Ser68Thr) c.*203T>A (n.*203T>A) c.313T>A (p.Ser105Thr) c.250T>A (p.Ser84Thr) n.626T>A n.277T>A c.226T>A (p.Ser76Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.128401063G>A | CA457528605 | IMPDH1 | c.348C>T (p.Ser116=) n.312C>T c.456C>T (p.Ser152=) c.103C>T c.426C>T (p.Ser142=) c.357C>T (p.Ser119=) c.202C>T c.201C>T (p.Ser67=) c.*202C>T (n.*202C>T) c.312C>T (p.Ser104=) c.249C>T (p.Ser83=) n.625C>T n.276C>T c.225C>T (p.Ser75=) | gnomAD v4 |
| 7 | g.128401063G>C | CA457528606 | IMPDH1 | c.348C>G (p.Ser116=) n.312C>G c.456C>G (p.Ser152=) c.103C>G c.426C>G (p.Ser142=) c.357C>G (p.Ser119=) c.202C>G c.201C>G (p.Ser67=) c.*202C>G (n.*202C>G) c.312C>G (p.Ser104=) c.249C>G (p.Ser83=) n.625C>G n.276C>G c.225C>G (p.Ser75=) | |
| 7 | g.128401063G>T | CA457528607 | IMPDH1 | c.348C>A (p.Ser116=) n.312C>A c.456C>A (p.Ser152=) c.103C>A c.426C>A (p.Ser142=) c.357C>A (p.Ser119=) c.202C>A c.201C>A (p.Ser67=) c.*202C>A (n.*202C>A) c.312C>A (p.Ser104=) c.249C>A (p.Ser83=) n.625C>A n.276C>A c.225C>A (p.Ser75=) | |
| 7 | g.128401064G>A | CA369174485 | IMPDH1 | c.347C>T (p.Ser116Phe) n.311C>T c.455C>T (p.Ser152Phe) c.102C>T c.425C>T (p.Ser142Phe) c.356C>T (p.Ser119Phe) c.201C>T c.200C>T (p.Ser67Phe) c.*201C>T (n.*201C>T) c.311C>T (p.Ser104Phe) c.248C>T (p.Ser83Phe) n.624C>T n.275C>T c.224C>T (p.Ser75Phe) | COSMIC COSMIC |
| 7 | g.128401064G>C | CA369174486 | IMPDH1 | c.347C>G (p.Ser116Cys) n.311C>G c.455C>G (p.Ser152Cys) c.102C>G c.425C>G (p.Ser142Cys) c.356C>G (p.Ser119Cys) c.201C>G c.200C>G (p.Ser67Cys) c.*201C>G (n.*201C>G) c.311C>G (p.Ser104Cys) c.248C>G (p.Ser83Cys) n.624C>G n.275C>G c.224C>G (p.Ser75Cys) | |
| 7 | g.128401064G= | CA1742334784 | IMPDH1 | c.347C= (p.Ser116=) n.311C= c.455C= (p.Ser152=) c.102C= c.425C= (p.Ser142=) c.356C= (p.Ser119=) c.201C= c.200C= (p.Ser67=) c.*201C= (n.*201C=) c.311C= (p.Ser104=) c.248C= (p.Ser83=) n.624C= n.275C= c.224C= (p.Ser75=) | |
| 7 | g.128401064G>T | CA4471155 | IMPDH1 | c.347C>A (p.Ser116Tyr) n.311C>A c.455C>A (p.Ser152Tyr) c.102C>A c.425C>A (p.Ser142Tyr) c.356C>A (p.Ser119Tyr) c.201C>A c.200C>A (p.Ser67Tyr) c.*201C>A (n.*201C>A) c.311C>A (p.Ser104Tyr) c.248C>A (p.Ser83Tyr) n.624C>A n.275C>A c.224C>A (p.Ser75Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.128401065A>C | CA369174489 | IMPDH1 | c.346T>G (p.Ser116Ala) n.310T>G c.454T>G (p.Ser152Ala) c.101T>G c.424T>G (p.Ser142Ala) c.355T>G (p.Ser119Ala) c.200T>G c.199T>G (p.Ser67Ala) c.*200T>G (n.*200T>G) c.310T>G (p.Ser104Ala) c.247T>G (p.Ser83Ala) n.623T>G n.274T>G c.223T>G (p.Ser75Ala) | |
| 7 | g.128401065A>G | CA369174492 | IMPDH1 | c.346T>C (p.Ser116Pro) n.310T>C c.454T>C (p.Ser152Pro) c.101T>C c.424T>C (p.Ser142Pro) c.355T>C (p.Ser119Pro) c.200T>C c.199T>C (p.Ser67Pro) c.*200T>C (n.*200T>C) c.310T>C (p.Ser104Pro) c.247T>C (p.Ser83Pro) n.623T>C n.274T>C c.223T>C (p.Ser75Pro) | |
| 7 | g.128401065A>T | CA369174490 | IMPDH1 | c.346T>A (p.Ser116Thr) n.310T>A c.454T>A (p.Ser152Thr) c.101T>A c.424T>A (p.Ser142Thr) c.355T>A (p.Ser119Thr) c.200T>A c.199T>A (p.Ser67Thr) c.*200T>A (n.*200T>A) c.310T>A (p.Ser104Thr) c.247T>A (p.Ser83Thr) n.623T>A n.274T>A c.223T>A (p.Ser75Thr) | COSMIC COSMIC |