Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.128398387_128398410del | CA2684777442 | IMPDH1 | c.966+6_966+29del (n.966+6_966+29del) n.949+6_949+29del c.1074+6_1074+29del (n.1074+6_1074+29del) c.706+6_706+29del c.1044+6_1044+29del (n.1044+6_1044+29del) c.975+6_975+29del (n.975+6_975+29del) c.839+6_839+29del c.816+6_816+29del (n.816+6_816+29del) c.804+6_804+29del (n.804+6_804+29del) c.949+6_949+29del (n.949+6_949+29del) c.744+6_744+29del (n.744+6_744+29del) c.819+6_819+29del (n.819+6_819+29del) c.867+6_867+29del (n.867+6_867+29del) c.843+6_843+29del (n.843+6_843+29del) c.456+6_456+29del (n.456+6_456+29del) | gnomAD v4 |
7 | g.128398399_128398402delinsAGGC | CA1742366360 | IMPDH1 | c.966+12_966+15delinsGCCT (n.966+12_966+15delinsGCCT) n.949+12_949+15delinsGCCT c.1074+12_1074+15delinsGCCT (n.1074+12_1074+15delinsGCCT) c.706+12_706+15delinsGCCT c.1044+12_1044+15delinsGCCT (n.1044+12_1044+15delinsGCCT) c.975+12_975+15delinsGCCT (n.975+12_975+15delinsGCCT) c.839+12_839+15delinsGCCT c.816+12_816+15delinsGCCT (n.816+12_816+15delinsGCCT) c.804+12_804+15delinsGCCT (n.804+12_804+15delinsGCCT) c.949+12_949+15delinsGCCT (n.949+12_949+15delinsGCCT) c.744+12_744+15delinsGCCT (n.744+12_744+15delinsGCCT) c.819+12_819+15delinsGCCT (n.819+12_819+15delinsGCCT) c.867+12_867+15delinsGCCT (n.867+12_867+15delinsGCCT) c.843+12_843+15delinsGCCT (n.843+12_843+15delinsGCCT) c.456+12_456+15delinsGCCT (n.456+12_456+15delinsGCCT) | |
7 | g.128398402_128398404del | CA4470964 | IMPDH1 | c.966+12_966+14del (n.966+12_966+14del) n.949+12_949+14del c.1074+12_1074+14del (n.1074+12_1074+14del) c.706+12_706+14del c.1044+12_1044+14del (n.1044+12_1044+14del) c.975+12_975+14del (n.975+12_975+14del) c.839+12_839+14del c.816+12_816+14del (n.816+12_816+14del) c.804+12_804+14del (n.804+12_804+14del) c.949+12_949+14del (n.949+12_949+14del) c.744+12_744+14del (n.744+12_744+14del) c.819+12_819+14del (n.819+12_819+14del) c.867+12_867+14del (n.867+12_867+14del) c.843+12_843+14del (n.843+12_843+14del) c.456+12_456+14del (n.456+12_456+14del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128398402del | CA2579011693 | IMPDH1 | c.966+12del (n.966+12del) n.949+12del c.1074+12del (n.1074+12del) c.706+12del c.1044+12del (n.1044+12del) c.975+12del (n.975+12del) c.839+12del c.816+12del (n.816+12del) c.804+12del (n.804+12del) c.949+12del (n.949+12del) c.744+12del (n.744+12del) c.819+12del (n.819+12del) c.867+12del (n.867+12del) c.843+12del (n.843+12del) c.456+12del (n.456+12del) | |
7 | g.128398402C= | CA1742366362 | IMPDH1 | c.966+12G= (n.966+12G=) n.949+12G= c.1074+12G= (n.1074+12G=) c.706+12G= c.1044+12G= (n.1044+12G=) c.975+12G= (n.975+12G=) c.839+12G= c.816+12G= (n.816+12G=) c.804+12G= (n.804+12G=) c.949+12G= (n.949+12G=) c.744+12G= (n.744+12G=) c.819+12G= (n.819+12G=) c.867+12G= (n.867+12G=) c.843+12G= (n.843+12G=) c.456+12G= (n.456+12G=) | |
7 | g.128398402C>T | CA166125953 | IMPDH1 | c.966+12G>A (n.966+12G>A) n.949+12G>A c.1074+12G>A (n.1074+12G>A) c.706+12G>A c.1044+12G>A (n.1044+12G>A) c.975+12G>A (n.975+12G>A) c.839+12G>A c.816+12G>A (n.816+12G>A) c.804+12G>A (n.804+12G>A) c.949+12G>A (n.949+12G>A) c.744+12G>A (n.744+12G>A) c.819+12G>A (n.819+12G>A) c.867+12G>A (n.867+12G>A) c.843+12G>A (n.843+12G>A) c.456+12G>A (n.456+12G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398403G>A | CA4470965 | IMPDH1 | c.966+11C>T (n.966+11C>T) n.949+11C>T c.1074+11C>T (n.1074+11C>T) c.706+11C>T c.1044+11C>T (n.1044+11C>T) c.975+11C>T (n.975+11C>T) c.839+11C>T c.816+11C>T (n.816+11C>T) c.804+11C>T (n.804+11C>T) c.949+11C>T (n.949+11C>T) c.744+11C>T (n.744+11C>T) c.819+11C>T (n.819+11C>T) c.867+11C>T (n.867+11C>T) c.843+11C>T (n.843+11C>T) c.456+11C>T (n.456+11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398403G= | CA1742366365 | IMPDH1 | c.966+11C= (n.966+11C=) n.949+11C= c.1074+11C= (n.1074+11C=) c.706+11C= c.1044+11C= (n.1044+11C=) c.975+11C= (n.975+11C=) c.839+11C= c.816+11C= (n.816+11C=) c.804+11C= (n.804+11C=) c.949+11C= (n.949+11C=) c.744+11C= (n.744+11C=) c.819+11C= (n.819+11C=) c.867+11C= (n.867+11C=) c.843+11C= (n.843+11C=) c.456+11C= (n.456+11C=) | |
7 | g.128398403G>T | CA2579011695 | IMPDH1 | c.966+11C>A (n.966+11C>A) n.949+11C>A c.1074+11C>A (n.1074+11C>A) c.706+11C>A c.1044+11C>A (n.1044+11C>A) c.975+11C>A (n.975+11C>A) c.839+11C>A c.816+11C>A (n.816+11C>A) c.804+11C>A (n.804+11C>A) c.949+11C>A (n.949+11C>A) c.744+11C>A (n.744+11C>A) c.819+11C>A (n.819+11C>A) c.867+11C>A (n.867+11C>A) c.843+11C>A (n.843+11C>A) c.456+11C>A (n.456+11C>A) | |
7 | g.128398407del | CA2684777468 | IMPDH1 | c.966+11del (n.966+11del) n.949+11del c.1074+11del (n.1074+11del) c.706+11del c.1044+11del (n.1044+11del) c.975+11del (n.975+11del) c.839+11del c.816+11del (n.816+11del) c.804+11del (n.804+11del) c.949+11del (n.949+11del) c.744+11del (n.744+11del) c.819+11del (n.819+11del) c.867+11del (n.867+11del) c.843+11del (n.843+11del) c.456+11del (n.456+11del) | gnomAD v4 |
7 | g.128398404G>A | CA1742366374 | IMPDH1 | c.966+10C>T (n.966+10C>T) n.949+10C>T c.1074+10C>T (n.1074+10C>T) c.706+10C>T c.1044+10C>T (n.1044+10C>T) c.975+10C>T (n.975+10C>T) c.839+10C>T c.816+10C>T (n.816+10C>T) c.804+10C>T (n.804+10C>T) c.949+10C>T (n.949+10C>T) c.744+10C>T (n.744+10C>T) c.819+10C>T (n.819+10C>T) c.867+10C>T (n.867+10C>T) c.843+10C>T (n.843+10C>T) c.456+10C>T (n.456+10C>T) | dbSNP gnomAD v4 |
7 | g.128398404G>C | CA577707318 | IMPDH1 | c.966+10C>G (n.966+10C>G) n.949+10C>G c.1074+10C>G (n.1074+10C>G) c.706+10C>G c.1044+10C>G (n.1044+10C>G) c.975+10C>G (n.975+10C>G) c.839+10C>G c.816+10C>G (n.816+10C>G) c.804+10C>G (n.804+10C>G) c.949+10C>G (n.949+10C>G) c.744+10C>G (n.744+10C>G) c.819+10C>G (n.819+10C>G) c.867+10C>G (n.867+10C>G) c.843+10C>G (n.843+10C>G) c.456+10C>G (n.456+10C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398404G= | CA1742366402 | IMPDH1 | c.966+10C= (n.966+10C=) n.949+10C= c.1074+10C= (n.1074+10C=) c.706+10C= c.1044+10C= (n.1044+10C=) c.975+10C= (n.975+10C=) c.839+10C= c.816+10C= (n.816+10C=) c.804+10C= (n.804+10C=) c.949+10C= (n.949+10C=) c.744+10C= (n.744+10C=) c.819+10C= (n.819+10C=) c.867+10C= (n.867+10C=) c.843+10C= (n.843+10C=) c.456+10C= (n.456+10C=) | |
7 | g.128398404G>T | CA1742366376 | IMPDH1 | c.966+10C>A (n.966+10C>A) n.949+10C>A c.1074+10C>A (n.1074+10C>A) c.706+10C>A c.1044+10C>A (n.1044+10C>A) c.975+10C>A (n.975+10C>A) c.839+10C>A c.816+10C>A (n.816+10C>A) c.804+10C>A (n.804+10C>A) c.949+10C>A (n.949+10C>A) c.744+10C>A (n.744+10C>A) c.819+10C>A (n.819+10C>A) c.867+10C>A (n.867+10C>A) c.843+10C>A (n.843+10C>A) c.456+10C>A (n.456+10C>A) | dbSNP |
7 | g.128398406G>A | CA4470966 | IMPDH1 | c.966+8C>T (n.966+8C>T) n.949+8C>T c.1074+8C>T (n.1074+8C>T) c.706+8C>T c.1044+8C>T (n.1044+8C>T) c.975+8C>T (n.975+8C>T) c.839+8C>T c.816+8C>T (n.816+8C>T) c.804+8C>T (n.804+8C>T) c.949+8C>T (n.949+8C>T) c.744+8C>T (n.744+8C>T) c.819+8C>T (n.819+8C>T) c.867+8C>T (n.867+8C>T) c.843+8C>T (n.843+8C>T) c.456+8C>T (n.456+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398406G= | CA1742366404 | IMPDH1 | c.966+8C= (n.966+8C=) n.949+8C= c.1074+8C= (n.1074+8C=) c.706+8C= c.1044+8C= (n.1044+8C=) c.975+8C= (n.975+8C=) c.839+8C= c.816+8C= (n.816+8C=) c.804+8C= (n.804+8C=) c.949+8C= (n.949+8C=) c.744+8C= (n.744+8C=) c.819+8C= (n.819+8C=) c.867+8C= (n.867+8C=) c.843+8C= (n.843+8C=) c.456+8C= (n.456+8C=) | |
7 | g.128398406G>T | CA2579011698 | IMPDH1 | c.966+8C>A (n.966+8C>A) n.949+8C>A c.1074+8C>A (n.1074+8C>A) c.706+8C>A c.1044+8C>A (n.1044+8C>A) c.975+8C>A (n.975+8C>A) c.839+8C>A c.816+8C>A (n.816+8C>A) c.804+8C>A (n.804+8C>A) c.949+8C>A (n.949+8C>A) c.744+8C>A (n.744+8C>A) c.819+8C>A (n.819+8C>A) c.867+8C>A (n.867+8C>A) c.843+8C>A (n.843+8C>A) c.456+8C>A (n.456+8C>A) | |
7 | g.128398407G>A | CA4470967 | IMPDH1 | c.966+7C>T (n.966+7C>T) n.949+7C>T c.1074+7C>T (n.1074+7C>T) c.706+7C>T c.1044+7C>T (n.1044+7C>T) c.975+7C>T (n.975+7C>T) c.839+7C>T c.816+7C>T (n.816+7C>T) c.804+7C>T (n.804+7C>T) c.949+7C>T (n.949+7C>T) c.744+7C>T (n.744+7C>T) c.819+7C>T (n.819+7C>T) c.867+7C>T (n.867+7C>T) c.843+7C>T (n.843+7C>T) c.456+7C>T (n.456+7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398407G= | CA1742366412 | IMPDH1 | c.966+7C= (n.966+7C=) n.949+7C= c.1074+7C= (n.1074+7C=) c.706+7C= c.1044+7C= (n.1044+7C=) c.975+7C= (n.975+7C=) c.839+7C= c.816+7C= (n.816+7C=) c.804+7C= (n.804+7C=) c.949+7C= (n.949+7C=) c.744+7C= (n.744+7C=) c.819+7C= (n.819+7C=) c.867+7C= (n.867+7C=) c.843+7C= (n.843+7C=) c.456+7C= (n.456+7C=) | |
7 | g.128398407_128398408delinsAA | CA200685 | IMPDH1 | c.966+6_966+7delinsTT (n.966+6_966+7delinsTT) n.949+6_949+7delinsTT c.1074+6_1074+7delinsTT (n.1074+6_1074+7delinsTT) c.706+6_706+7delinsTT c.1044+6_1044+7delinsTT (n.1044+6_1044+7delinsTT) c.975+6_975+7delinsTT (n.975+6_975+7delinsTT) c.839+6_839+7delinsTT c.816+6_816+7delinsTT (n.816+6_816+7delinsTT) c.804+6_804+7delinsTT (n.804+6_804+7delinsTT) c.949+6_949+7delinsTT (n.949+6_949+7delinsTT) c.744+6_744+7delinsTT (n.744+6_744+7delinsTT) c.819+6_819+7delinsTT (n.819+6_819+7delinsTT) c.867+6_867+7delinsTT (n.867+6_867+7delinsTT) c.843+6_843+7delinsTT (n.843+6_843+7delinsTT) c.456+6_456+7delinsTT (n.456+6_456+7delinsTT) | ClinVar dbSNP |
7 | g.128398407_128398408delinsGC | CA1742366414 | IMPDH1 | c.966+6_966+7delinsGC (n.966+6_966+7delinsGC) n.949+6_949+7delinsGC c.1074+6_1074+7delinsGC (n.1074+6_1074+7delinsGC) c.706+6_706+7delinsGC c.1044+6_1044+7delinsGC (n.1044+6_1044+7delinsGC) c.975+6_975+7delinsGC (n.975+6_975+7delinsGC) c.839+6_839+7delinsGC c.816+6_816+7delinsGC (n.816+6_816+7delinsGC) c.804+6_804+7delinsGC (n.804+6_804+7delinsGC) c.949+6_949+7delinsGC (n.949+6_949+7delinsGC) c.744+6_744+7delinsGC (n.744+6_744+7delinsGC) c.819+6_819+7delinsGC (n.819+6_819+7delinsGC) c.867+6_867+7delinsGC (n.867+6_867+7delinsGC) c.843+6_843+7delinsGC (n.843+6_843+7delinsGC) c.456+6_456+7delinsGC (n.456+6_456+7delinsGC) | |
7 | g.128398408C>A | CA4470968 | IMPDH1 | c.966+6G>T (n.966+6G>T) n.949+6G>T c.1074+6G>T (n.1074+6G>T) c.706+6G>T c.1044+6G>T (n.1044+6G>T) c.975+6G>T (n.975+6G>T) c.839+6G>T c.816+6G>T (n.816+6G>T) c.804+6G>T (n.804+6G>T) c.949+6G>T (n.949+6G>T) c.744+6G>T (n.744+6G>T) c.819+6G>T (n.819+6G>T) c.867+6G>T (n.867+6G>T) c.843+6G>T (n.843+6G>T) c.456+6G>T (n.456+6G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398408C= | CA1742366422 | IMPDH1 | c.966+6G= (n.966+6G=) n.949+6G= c.1074+6G= (n.1074+6G=) c.706+6G= c.1044+6G= (n.1044+6G=) c.975+6G= (n.975+6G=) c.839+6G= c.816+6G= (n.816+6G=) c.804+6G= (n.804+6G=) c.949+6G= (n.949+6G=) c.744+6G= (n.744+6G=) c.819+6G= (n.819+6G=) c.867+6G= (n.867+6G=) c.843+6G= (n.843+6G=) c.456+6G= (n.456+6G=) | |
7 | g.128398412A= | CA1742366424 | IMPDH1 | c.966+2T= (n.966+2T=) n.949+2T= c.1074+2T= (n.1074+2T=) c.706+2T= c.1044+2T= (n.1044+2T=) c.975+2T= (n.975+2T=) c.839+2T= c.816+2T= (n.816+2T=) c.804+2T= (n.804+2T=) c.949+2T= (n.949+2T=) c.744+2T= (n.744+2T=) c.819+2T= (n.819+2T=) c.867+2T= (n.867+2T=) c.843+2T= (n.843+2T=) c.456+2T= (n.456+2T=) | |
7 | g.128398412A>C | CA369167698 | IMPDH1 | c.966+2T>G (n.966+2T>G) n.949+2T>G c.1074+2T>G (n.1074+2T>G) c.706+2T>G c.1044+2T>G (n.1044+2T>G) c.975+2T>G (n.975+2T>G) c.839+2T>G c.816+2T>G (n.816+2T>G) c.804+2T>G (n.804+2T>G) c.949+2T>G (n.949+2T>G) c.744+2T>G (n.744+2T>G) c.819+2T>G (n.819+2T>G) c.867+2T>G (n.867+2T>G) c.843+2T>G (n.843+2T>G) c.456+2T>G (n.456+2T>G) | |
7 | g.128398412A>G | CA369167714 | IMPDH1 | c.966+2T>C (n.966+2T>C) n.949+2T>C c.1074+2T>C (n.1074+2T>C) c.706+2T>C c.1044+2T>C (n.1044+2T>C) c.975+2T>C (n.975+2T>C) c.839+2T>C c.816+2T>C (n.816+2T>C) c.804+2T>C (n.804+2T>C) c.949+2T>C (n.949+2T>C) c.744+2T>C (n.744+2T>C) c.819+2T>C (n.819+2T>C) c.867+2T>C (n.867+2T>C) c.843+2T>C (n.843+2T>C) c.456+2T>C (n.456+2T>C) | dbSNP |
7 | g.128398412A>T | CA369167705 | IMPDH1 | c.966+2T>A (n.966+2T>A) n.949+2T>A c.1074+2T>A (n.1074+2T>A) c.706+2T>A c.1044+2T>A (n.1044+2T>A) c.975+2T>A (n.975+2T>A) c.839+2T>A c.816+2T>A (n.816+2T>A) c.804+2T>A (n.804+2T>A) c.949+2T>A (n.949+2T>A) c.744+2T>A (n.744+2T>A) c.819+2T>A (n.819+2T>A) c.867+2T>A (n.867+2T>A) c.843+2T>A (n.843+2T>A) c.456+2T>A (n.456+2T>A) | |
7 | g.128398413C>A | CA369167720 | IMPDH1 | c.966+1G>T (n.966+1G>T) n.949+1G>T c.1074+1G>T (n.1074+1G>T) c.706+1G>T c.1044+1G>T (n.1044+1G>T) c.975+1G>T (n.975+1G>T) c.839+1G>T c.816+1G>T (n.816+1G>T) c.804+1G>T (n.804+1G>T) c.949+1G>T (n.949+1G>T) c.744+1G>T (n.744+1G>T) c.819+1G>T (n.819+1G>T) c.867+1G>T (n.867+1G>T) c.843+1G>T (n.843+1G>T) c.456+1G>T (n.456+1G>T) | |
7 | g.128398413C= | CA1742366428 | IMPDH1 | c.966+1G= (n.966+1G=) n.949+1G= c.1074+1G= (n.1074+1G=) c.706+1G= c.1044+1G= (n.1044+1G=) c.975+1G= (n.975+1G=) c.839+1G= c.816+1G= (n.816+1G=) c.804+1G= (n.804+1G=) c.949+1G= (n.949+1G=) c.744+1G= (n.744+1G=) c.819+1G= (n.819+1G=) c.867+1G= (n.867+1G=) c.843+1G= (n.843+1G=) c.456+1G= (n.456+1G=) | |
7 | g.128398413C>G | CA369167724 | IMPDH1 | c.966+1G>C (n.966+1G>C) n.949+1G>C c.1074+1G>C (n.1074+1G>C) c.706+1G>C c.1044+1G>C (n.1044+1G>C) c.975+1G>C (n.975+1G>C) c.839+1G>C c.816+1G>C (n.816+1G>C) c.804+1G>C (n.804+1G>C) c.949+1G>C (n.949+1G>C) c.744+1G>C (n.744+1G>C) c.819+1G>C (n.819+1G>C) c.867+1G>C (n.867+1G>C) c.843+1G>C (n.843+1G>C) c.456+1G>C (n.456+1G>C) | |
7 | g.128398413C>T | CA4470969 | IMPDH1 | c.966+1G>A (n.966+1G>A) n.949+1G>A c.1074+1G>A (n.1074+1G>A) c.706+1G>A c.1044+1G>A (n.1044+1G>A) c.975+1G>A (n.975+1G>A) c.839+1G>A c.816+1G>A (n.816+1G>A) c.804+1G>A (n.804+1G>A) c.949+1G>A (n.949+1G>A) c.744+1G>A (n.744+1G>A) c.819+1G>A (n.819+1G>A) c.867+1G>A (n.867+1G>A) c.843+1G>A (n.843+1G>A) c.456+1G>A (n.456+1G>A) | dbSNP ExAC gnomAD v2 |
7 | g.128398414C>A | CA369167731 | IMPDH1 | c.966G>T (p.Leu322Phe) n.949G>T c.1074G>T (p.Leu358Phe) c.706G>T c.1044G>T (p.Leu348Phe) c.975G>T (p.Leu325Phe) c.839G>T c.816G>T (p.Leu272Phe) c.804G>T (p.Leu268Phe) c.949G>T (n.949G>T) c.744G>T (p.Leu248Phe) c.867G>T (p.Leu289Phe) c.819G>T (p.Leu273Phe) c.843G>T (p.Leu281Phe) c.456G>T (p.Leu152Phe) | |
7 | g.128398414C= | CA1742366431 | IMPDH1 | c.966G= (p.Leu322=) n.949G= c.1074G= (p.Leu358=) c.706G= c.1044G= (p.Leu348=) c.975G= (p.Leu325=) c.839G= c.816G= (p.Leu272=) c.804G= (p.Leu268=) c.949G= (n.949G=) c.744G= (p.Leu248=) c.867G= (p.Leu289=) c.819G= (p.Leu273=) c.843G= (p.Leu281=) c.456G= (p.Leu152=) | |
7 | g.128398414C>G | CA369167732 | IMPDH1 | c.966G>C (p.Leu322Phe) n.949G>C c.1074G>C (p.Leu358Phe) c.706G>C c.1044G>C (p.Leu348Phe) c.975G>C (p.Leu325Phe) c.839G>C c.816G>C (p.Leu272Phe) c.804G>C (p.Leu268Phe) c.949G>C (n.949G>C) c.744G>C (p.Leu248Phe) c.867G>C (p.Leu289Phe) c.819G>C (p.Leu273Phe) c.843G>C (p.Leu281Phe) c.456G>C (p.Leu152Phe) | ClinVar dbSNP gnomAD v4 |
7 | g.128398414C>T | CA457528146 | IMPDH1 | c.966G>A (p.Leu322=) n.949G>A c.1074G>A (p.Leu358=) c.706G>A c.1044G>A (p.Leu348=) c.975G>A (p.Leu325=) c.839G>A c.816G>A (p.Leu272=) c.804G>A (p.Leu268=) c.949G>A (n.949G>A) c.744G>A (p.Leu248=) c.867G>A (p.Leu289=) c.819G>A (p.Leu273=) c.843G>A (p.Leu281=) c.456G>A (p.Leu152=) | |
7 | g.128398415A>C | CA369167733 | IMPDH1 | c.965T>G (p.Leu322Trp) n.948T>G c.1073T>G (p.Leu358Trp) c.705T>G c.1043T>G (p.Leu348Trp) c.974T>G (p.Leu325Trp) c.838T>G c.815T>G (p.Leu272Trp) c.803T>G (p.Leu268Trp) c.948T>G (n.948T>G) c.743T>G (p.Leu248Trp) c.866T>G (p.Leu289Trp) c.818T>G (p.Leu273Trp) c.842T>G (p.Leu281Trp) c.455T>G (p.Leu152Trp) | |
7 | g.128398415A>G | CA369167738 | IMPDH1 | c.965T>C (p.Leu322Ser) n.948T>C c.1073T>C (p.Leu358Ser) c.705T>C c.1043T>C (p.Leu348Ser) c.974T>C (p.Leu325Ser) c.838T>C c.815T>C (p.Leu272Ser) c.803T>C (p.Leu268Ser) c.948T>C (n.948T>C) c.743T>C (p.Leu248Ser) c.866T>C (p.Leu289Ser) c.818T>C (p.Leu273Ser) c.842T>C (p.Leu281Ser) c.455T>C (p.Leu152Ser) | |
7 | g.128398415A>T | CA369167748 | IMPDH1 | c.965T>A (p.Leu322Ter) n.948T>A c.1073T>A (p.Leu358Ter) c.705T>A c.1043T>A (p.Leu348Ter) c.974T>A (p.Leu325Ter) c.838T>A c.815T>A (p.Leu272Ter) c.803T>A (p.Leu268Ter) c.948T>A (n.948T>A) c.743T>A (p.Leu248Ter) c.866T>A (p.Leu289Ter) c.818T>A (p.Leu273Ter) c.842T>A (p.Leu281Ter) c.455T>A (p.Leu152Ter) | |
7 | g.128398416A>C | CA369167756 | IMPDH1 | c.964T>G (p.Leu322Val) n.947T>G c.1072T>G (p.Leu358Val) c.704T>G c.1042T>G (p.Leu348Val) c.973T>G (p.Leu325Val) c.837T>G c.814T>G (p.Leu272Val) c.802T>G (p.Leu268Val) c.947T>G (n.947T>G) c.742T>G (p.Leu248Val) c.865T>G (p.Leu289Val) c.817T>G (p.Leu273Val) c.841T>G (p.Leu281Val) c.454T>G (p.Leu152Val) | |
7 | g.128398416A>G | CA457528147 | IMPDH1 | c.964T>C (p.Leu322=) n.947T>C c.1072T>C (p.Leu358=) c.704T>C c.1042T>C (p.Leu348=) c.973T>C (p.Leu325=) c.837T>C c.814T>C (p.Leu272=) c.802T>C (p.Leu268=) c.947T>C (n.947T>C) c.742T>C (p.Leu248=) c.865T>C (p.Leu289=) c.817T>C (p.Leu273=) c.841T>C (p.Leu281=) c.454T>C (p.Leu152=) | |
7 | g.128398416A>T | CA369167766 | IMPDH1 | c.964T>A (p.Leu322Met) n.947T>A c.1072T>A (p.Leu358Met) c.704T>A c.1042T>A (p.Leu348Met) c.973T>A (p.Leu325Met) c.837T>A c.814T>A (p.Leu272Met) c.802T>A (p.Leu268Met) c.947T>A (n.947T>A) c.742T>A (p.Leu248Met) c.865T>A (p.Leu289Met) c.817T>A (p.Leu273Met) c.841T>A (p.Leu281Met) c.454T>A (p.Leu152Met) | |
7 | g.128398417G>A | CA457528148 | IMPDH1 | c.963C>T (p.Val321=) n.946C>T c.1071C>T (p.Val357=) c.703C>T c.1041C>T (p.Val347=) c.972C>T (p.Val324=) c.836C>T c.813C>T (p.Val271=) c.801C>T (p.Val267=) c.946C>T (n.946C>T) c.741C>T (p.Val247=) c.864C>T (p.Val288=) c.816C>T (p.Val272=) c.840C>T (p.Val280=) c.453C>T (p.Val151=) | |
7 | g.128398417G>C | CA457528149 | IMPDH1 | c.963C>G (p.Val321=) n.946C>G c.1071C>G (p.Val357=) c.703C>G c.1041C>G (p.Val347=) c.972C>G (p.Val324=) c.836C>G c.813C>G (p.Val271=) c.801C>G (p.Val267=) c.946C>G (n.946C>G) c.741C>G (p.Val247=) c.864C>G (p.Val288=) c.816C>G (p.Val272=) c.840C>G (p.Val280=) c.453C>G (p.Val151=) | |
7 | g.128398417G>T | CA457528150 | IMPDH1 | c.963C>A (p.Val321=) n.946C>A c.1071C>A (p.Val357=) c.703C>A c.1041C>A (p.Val347=) c.972C>A (p.Val324=) c.836C>A c.813C>A (p.Val271=) c.801C>A (p.Val267=) c.946C>A (n.946C>A) c.741C>A (p.Val247=) c.864C>A (p.Val288=) c.816C>A (p.Val272=) c.840C>A (p.Val280=) c.453C>A (p.Val151=) | gnomAD v4 |
7 | g.128398418A>C | CA369167781 | IMPDH1 | c.962T>G (p.Val321Gly) n.945T>G c.1070T>G (p.Val357Gly) c.702T>G c.1040T>G (p.Val347Gly) c.971T>G (p.Val324Gly) c.835T>G c.812T>G (p.Val271Gly) c.800T>G (p.Val267Gly) c.945T>G (n.945T>G) c.740T>G (p.Val247Gly) c.863T>G (p.Val288Gly) c.815T>G (p.Val272Gly) c.839T>G (p.Val280Gly) c.452T>G (p.Val151Gly) | |
7 | g.128398418A>G | CA369167785 | IMPDH1 | c.962T>C (p.Val321Ala) n.945T>C c.1070T>C (p.Val357Ala) c.702T>C c.1040T>C (p.Val347Ala) c.971T>C (p.Val324Ala) c.835T>C c.812T>C (p.Val271Ala) c.800T>C (p.Val267Ala) c.945T>C (n.945T>C) c.740T>C (p.Val247Ala) c.863T>C (p.Val288Ala) c.815T>C (p.Val272Ala) c.839T>C (p.Val280Ala) c.452T>C (p.Val151Ala) | |
7 | g.128398418A>T | CA369167774 | IMPDH1 | c.962T>A (p.Val321Asp) n.945T>A c.1070T>A (p.Val357Asp) c.702T>A c.1040T>A (p.Val347Asp) c.971T>A (p.Val324Asp) c.835T>A c.812T>A (p.Val271Asp) c.800T>A (p.Val267Asp) c.945T>A (n.945T>A) c.740T>A (p.Val247Asp) c.863T>A (p.Val288Asp) c.815T>A (p.Val272Asp) c.839T>A (p.Val280Asp) c.452T>A (p.Val151Asp) | |
7 | g.128398419C>A | CA369167790 | IMPDH1 | c.961G>T (p.Val321Phe) n.944G>T c.1069G>T (p.Val357Phe) c.701G>T c.1039G>T (p.Val347Phe) c.970G>T (p.Val324Phe) c.834G>T c.811G>T (p.Val271Phe) c.799G>T (p.Val267Phe) c.944G>T (n.944G>T) c.739G>T (p.Val247Phe) c.862G>T (p.Val288Phe) c.814G>T (p.Val272Phe) c.838G>T (p.Val280Phe) c.451G>T (p.Val151Phe) | |
7 | g.128398419C>G | CA369167792 | IMPDH1 | c.961G>C (p.Val321Leu) n.944G>C c.1069G>C (p.Val357Leu) c.701G>C c.1039G>C (p.Val347Leu) c.970G>C (p.Val324Leu) c.834G>C c.811G>C (p.Val271Leu) c.799G>C (p.Val267Leu) c.944G>C (n.944G>C) c.739G>C (p.Val247Leu) c.862G>C (p.Val288Leu) c.814G>C (p.Val272Leu) c.838G>C (p.Val280Leu) c.451G>C (p.Val151Leu) | |
7 | g.128398419C>T | CA369167796 | IMPDH1 | c.961G>A (p.Val321Ile) n.944G>A c.1069G>A (p.Val357Ile) c.701G>A c.1039G>A (p.Val347Ile) c.970G>A (p.Val324Ile) c.834G>A c.811G>A (p.Val271Ile) c.799G>A (p.Val267Ile) c.944G>A (n.944G>A) c.739G>A (p.Val247Ile) c.862G>A (p.Val288Ile) c.814G>A (p.Val272Ile) c.838G>A (p.Val280Ile) c.451G>A (p.Val151Ile) | |
7 | g.128398420T>A | CA457528153 | IMPDH1 | c.960A>T (p.Ile320=) n.943A>T c.1068A>T (p.Ile356=) c.700A>T c.1038A>T (p.Ile346=) c.969A>T (p.Ile323=) c.833A>T c.810A>T (p.Ile270=) c.798A>T (p.Ile266=) c.943A>T (n.943A>T) c.738A>T (p.Ile246=) c.861A>T (p.Ile287=) c.813A>T (p.Ile271=) c.837A>T (p.Ile279=) c.450A>T (p.Ile150=) | |
7 | g.128398420T>C | CA369167799 | IMPDH1 | c.960A>G (p.Ile320Met) n.943A>G c.1068A>G (p.Ile356Met) c.700A>G c.1038A>G (p.Ile346Met) c.969A>G (p.Ile323Met) c.833A>G c.810A>G (p.Ile270Met) c.798A>G (p.Ile266Met) c.943A>G (n.943A>G) c.738A>G (p.Ile246Met) c.861A>G (p.Ile287Met) c.813A>G (p.Ile271Met) c.837A>G (p.Ile279Met) c.450A>G (p.Ile150Met) | |
7 | g.128398420T>G | CA457528152 | IMPDH1 | c.960A>C (p.Ile320=) n.943A>C c.1068A>C (p.Ile356=) c.700A>C c.1038A>C (p.Ile346=) c.969A>C (p.Ile323=) c.833A>C c.810A>C (p.Ile270=) c.798A>C (p.Ile266=) c.943A>C (n.943A>C) c.738A>C (p.Ile246=) c.861A>C (p.Ile287=) c.813A>C (p.Ile271=) c.837A>C (p.Ile279=) c.450A>C (p.Ile150=) | |
7 | g.128398421_128398422del | CA2580076514 | IMPDH1 | c.959_960del (p.Ile320SerfsTer?) n.942_943del c.1067_1068del (p.Ile356SerfsTer?) c.699_700del c.1037_1038del (p.Ile346SerfsTer?) c.968_969del (p.Ile323SerfsTer?) c.832_833del c.809_810del (p.Ile270SerfsTer?) c.797_798del (p.Ile266SerfsTer?) c.942_943del (n.942_943del) c.737_738del (p.Ile246SerfsTer?) c.860_861del (p.Ile287SerfsTer?) c.812_813del (p.Ile271SerfsTer?) c.836_837del (p.Ile279SerfsTer?) c.449_450del (p.Ile150SerfsTer?) | ClinVar |
7 | g.128398421A= | CA1742366435 | IMPDH1 | c.959T= (p.Ile320=) n.942T= c.1067T= (p.Ile356=) c.699T= c.1037T= (p.Ile346=) c.968T= (p.Ile323=) c.832T= c.809T= (p.Ile270=) c.797T= (p.Ile266=) c.942T= (n.942T=) c.737T= (p.Ile246=) c.860T= (p.Ile287=) c.812T= (p.Ile271=) c.836T= (p.Ile279=) c.449T= (p.Ile150=) | |
7 | g.128398421A>C | CA369167802 | IMPDH1 | c.959T>G (p.Ile320Arg) n.942T>G c.1067T>G (p.Ile356Arg) c.699T>G c.1037T>G (p.Ile346Arg) c.968T>G (p.Ile323Arg) c.832T>G c.809T>G (p.Ile270Arg) c.797T>G (p.Ile266Arg) c.942T>G (n.942T>G) c.737T>G (p.Ile246Arg) c.860T>G (p.Ile287Arg) c.812T>G (p.Ile271Arg) c.836T>G (p.Ile279Arg) c.449T>G (p.Ile150Arg) | |
7 | g.128398421A>G | CA369167805 | IMPDH1 | c.959T>C (p.Ile320Thr) n.942T>C c.1067T>C (p.Ile356Thr) c.699T>C c.1037T>C (p.Ile346Thr) c.968T>C (p.Ile323Thr) c.832T>C c.809T>C (p.Ile270Thr) c.797T>C (p.Ile266Thr) c.942T>C (n.942T>C) c.737T>C (p.Ile246Thr) c.860T>C (p.Ile287Thr) c.812T>C (p.Ile271Thr) c.836T>C (p.Ile279Thr) c.449T>C (p.Ile150Thr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128398421A>T | CA369167808 | IMPDH1 | c.959T>A (p.Ile320Lys) n.942T>A c.1067T>A (p.Ile356Lys) c.699T>A c.1037T>A (p.Ile346Lys) c.968T>A (p.Ile323Lys) c.832T>A c.809T>A (p.Ile270Lys) c.797T>A (p.Ile266Lys) c.942T>A (n.942T>A) c.737T>A (p.Ile246Lys) c.860T>A (p.Ile287Lys) c.812T>A (p.Ile271Lys) c.836T>A (p.Ile279Lys) c.449T>A (p.Ile150Lys) | |
7 | g.128398422T>A | CA369167809 | IMPDH1 | c.958A>T (p.Ile320Leu) n.941A>T c.1066A>T (p.Ile356Leu) c.698A>T c.1036A>T (p.Ile346Leu) c.967A>T (p.Ile323Leu) c.831A>T c.808A>T (p.Ile270Leu) c.796A>T (p.Ile266Leu) c.941A>T (n.941A>T) c.736A>T (p.Ile246Leu) c.859A>T (p.Ile287Leu) c.811A>T (p.Ile271Leu) c.835A>T (p.Ile279Leu) c.448A>T (p.Ile150Leu) | |
7 | g.128398422T>C | CA369167810 | IMPDH1 | c.958A>G (p.Ile320Val) n.941A>G c.1066A>G (p.Ile356Val) c.698A>G c.1036A>G (p.Ile346Val) c.967A>G (p.Ile323Val) c.831A>G c.808A>G (p.Ile270Val) c.796A>G (p.Ile266Val) c.941A>G (n.941A>G) c.736A>G (p.Ile246Val) c.859A>G (p.Ile287Val) c.811A>G (p.Ile271Val) c.835A>G (p.Ile279Val) c.448A>G (p.Ile150Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128398422T>G | CA369167811 | IMPDH1 | c.958A>C (p.Ile320Leu) n.941A>C c.1066A>C (p.Ile356Leu) c.698A>C c.1036A>C (p.Ile346Leu) c.967A>C (p.Ile323Leu) c.831A>C c.808A>C (p.Ile270Leu) c.796A>C (p.Ile266Leu) c.941A>C (n.941A>C) c.736A>C (p.Ile246Leu) c.859A>C (p.Ile287Leu) c.811A>C (p.Ile271Leu) c.835A>C (p.Ile279Leu) c.448A>C (p.Ile150Leu) | |
7 | g.128398422T= | CA1742366437 | IMPDH1 | c.958A= (p.Ile320=) n.941A= c.1066A= (p.Ile356=) c.698A= c.1036A= (p.Ile346=) c.967A= (p.Ile323=) c.831A= c.808A= (p.Ile270=) c.796A= (p.Ile266=) c.941A= (n.941A=) c.736A= (p.Ile246=) c.859A= (p.Ile287=) c.811A= (p.Ile271=) c.835A= (p.Ile279=) c.448A= (p.Ile150=) | |
7 | g.128398423G>A | CA457528155 | IMPDH1 | c.957C>T (p.Val319=) n.940C>T c.1065C>T (p.Val355=) c.697C>T c.1035C>T (p.Val345=) c.966C>T (p.Val322=) c.830C>T c.807C>T (p.Val269=) c.795C>T (p.Val265=) c.940C>T (n.940C>T) c.735C>T (p.Val245=) c.858C>T (p.Val286=) c.810C>T (p.Val270=) c.834C>T (p.Val278=) c.447C>T (p.Val149=) | |
7 | g.128398423G>C | CA457528157 | IMPDH1 | c.957C>G (p.Val319=) n.940C>G c.1065C>G (p.Val355=) c.697C>G c.1035C>G (p.Val345=) c.966C>G (p.Val322=) c.830C>G c.807C>G (p.Val269=) c.795C>G (p.Val265=) c.940C>G (n.940C>G) c.735C>G (p.Val245=) c.858C>G (p.Val286=) c.810C>G (p.Val270=) c.834C>G (p.Val278=) c.447C>G (p.Val149=) | |
7 | g.128398423G>T | CA457528159 | IMPDH1 | c.957C>A (p.Val319=) n.940C>A c.1065C>A (p.Val355=) c.697C>A c.1035C>A (p.Val345=) c.966C>A (p.Val322=) c.830C>A c.807C>A (p.Val269=) c.795C>A (p.Val265=) c.940C>A (n.940C>A) c.735C>A (p.Val245=) c.858C>A (p.Val286=) c.810C>A (p.Val270=) c.834C>A (p.Val278=) c.447C>A (p.Val149=) | |
7 | g.128398424A>C | CA369167820 | IMPDH1 | c.956T>G (p.Val319Gly) n.939T>G c.1064T>G (p.Val355Gly) c.696T>G c.1034T>G (p.Val345Gly) c.965T>G (p.Val322Gly) c.829T>G c.806T>G (p.Val269Gly) c.794T>G (p.Val265Gly) c.939T>G (n.939T>G) c.734T>G (p.Val245Gly) c.857T>G (p.Val286Gly) c.809T>G (p.Val270Gly) c.833T>G (p.Val278Gly) c.446T>G (p.Val149Gly) | |
7 | g.128398424A>G | CA369167822 | IMPDH1 | c.956T>C (p.Val319Ala) n.939T>C c.1064T>C (p.Val355Ala) c.696T>C c.1034T>C (p.Val345Ala) c.965T>C (p.Val322Ala) c.829T>C c.806T>C (p.Val269Ala) c.794T>C (p.Val265Ala) c.939T>C (n.939T>C) c.734T>C (p.Val245Ala) c.857T>C (p.Val286Ala) c.809T>C (p.Val270Ala) c.833T>C (p.Val278Ala) c.446T>C (p.Val149Ala) | |
7 | g.128398424A>T | CA369167823 | IMPDH1 | c.956T>A (p.Val319Asp) n.939T>A c.1064T>A (p.Val355Asp) c.696T>A c.1034T>A (p.Val345Asp) c.965T>A (p.Val322Asp) c.829T>A c.806T>A (p.Val269Asp) c.794T>A (p.Val265Asp) c.939T>A (n.939T>A) c.734T>A (p.Val245Asp) c.857T>A (p.Val286Asp) c.809T>A (p.Val270Asp) c.833T>A (p.Val278Asp) c.446T>A (p.Val149Asp) | |
7 | g.128398425C>A | CA369167840 | IMPDH1 | c.955G>T (p.Val319Phe) n.938G>T c.1063G>T (p.Val355Phe) c.695G>T c.1033G>T (p.Val345Phe) c.964G>T (p.Val322Phe) c.828G>T c.805G>T (p.Val269Phe) c.793G>T (p.Val265Phe) c.938G>T (n.938G>T) c.733G>T (p.Val245Phe) c.856G>T (p.Val286Phe) c.808G>T (p.Val270Phe) c.832G>T (p.Val278Phe) c.445G>T (p.Val149Phe) | |
7 | g.128398425C= | CA1742366443 | IMPDH1 | c.955G= (p.Val319=) n.938G= c.1063G= (p.Val355=) c.695G= c.1033G= (p.Val345=) c.964G= (p.Val322=) c.828G= c.805G= (p.Val269=) c.793G= (p.Val265=) c.938G= (n.938G=) c.733G= (p.Val245=) c.856G= (p.Val286=) c.808G= (p.Val270=) c.832G= (p.Val278=) c.445G= (p.Val149=) | |
7 | g.128398425C>G | CA369167835 | IMPDH1 | c.955G>C (p.Val319Leu) n.938G>C c.1063G>C (p.Val355Leu) c.695G>C c.1033G>C (p.Val345Leu) c.964G>C (p.Val322Leu) c.828G>C c.805G>C (p.Val269Leu) c.793G>C (p.Val265Leu) c.938G>C (n.938G>C) c.733G>C (p.Val245Leu) c.856G>C (p.Val286Leu) c.808G>C (p.Val270Leu) c.832G>C (p.Val278Leu) c.445G>C (p.Val149Leu) | |
7 | g.128398425C>T | CA4470970 | IMPDH1 | c.955G>A (p.Val319Ile) n.938G>A c.1063G>A (p.Val355Ile) c.695G>A c.1033G>A (p.Val345Ile) c.964G>A (p.Val322Ile) c.828G>A c.805G>A (p.Val269Ile) c.793G>A (p.Val265Ile) c.938G>A (n.938G>A) c.733G>A (p.Val245Ile) c.856G>A (p.Val286Ile) c.808G>A (p.Val270Ile) c.832G>A (p.Val278Ile) c.445G>A (p.Val149Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398426G>A | CA166126011 | IMPDH1 | c.954C>T (p.Asp318=) n.937C>T c.1062C>T (p.Asp354=) c.694C>T c.1032C>T (p.Asp344=) c.963C>T (p.Asp321=) c.827C>T c.804C>T (p.Asp268=) c.792C>T (p.Asp264=) c.937C>T (n.937C>T) c.732C>T (p.Asp244=) c.855C>T (p.Asp285=) c.807C>T (p.Asp269=) c.831C>T (p.Asp277=) c.444C>T (p.Asp148=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.128398426G>C | CA369167845 | IMPDH1 | c.954C>G (p.Asp318Glu) n.937C>G c.1062C>G (p.Asp354Glu) c.694C>G c.1032C>G (p.Asp344Glu) c.963C>G (p.Asp321Glu) c.827C>G c.804C>G (p.Asp268Glu) c.792C>G (p.Asp264Glu) c.937C>G (n.937C>G) c.732C>G (p.Asp244Glu) c.855C>G (p.Asp285Glu) c.807C>G (p.Asp269Glu) c.831C>G (p.Asp277Glu) c.444C>G (p.Asp148Glu) | |
7 | g.128398426G= | CA1742366445 | IMPDH1 | c.954C= (p.Asp318=) n.937C= c.1062C= (p.Asp354=) c.694C= c.1032C= (p.Asp344=) c.963C= (p.Asp321=) c.827C= c.804C= (p.Asp268=) c.792C= (p.Asp264=) c.937C= (n.937C=) c.732C= (p.Asp244=) c.855C= (p.Asp285=) c.807C= (p.Asp269=) c.831C= (p.Asp277=) c.444C= (p.Asp148=) | |
7 | g.128398426G>T | CA369167852 | IMPDH1 | c.954C>A (p.Asp318Glu) n.937C>A c.1062C>A (p.Asp354Glu) c.694C>A c.1032C>A (p.Asp344Glu) c.963C>A (p.Asp321Glu) c.827C>A c.804C>A (p.Asp268Glu) c.792C>A (p.Asp264Glu) c.937C>A (n.937C>A) c.732C>A (p.Asp244Glu) c.855C>A (p.Asp285Glu) c.807C>A (p.Asp269Glu) c.831C>A (p.Asp277Glu) c.444C>A (p.Asp148Glu) | |
7 | g.128398427T>A | CA369167857 | IMPDH1 | c.953A>T (p.Asp318Val) n.936A>T c.1061A>T (p.Asp354Val) c.693A>T c.1031A>T (p.Asp344Val) c.962A>T (p.Asp321Val) c.826A>T c.803A>T (p.Asp268Val) c.791A>T (p.Asp264Val) c.936A>T (n.936A>T) c.731A>T (p.Asp244Val) c.854A>T (p.Asp285Val) c.806A>T (p.Asp269Val) c.830A>T (p.Asp277Val) c.443A>T (p.Asp148Val) | |
7 | g.128398427T>C | CA369167858 | IMPDH1 | c.953A>G (p.Asp318Gly) n.936A>G c.1061A>G (p.Asp354Gly) c.693A>G c.1031A>G (p.Asp344Gly) c.962A>G (p.Asp321Gly) c.826A>G c.803A>G (p.Asp268Gly) c.791A>G (p.Asp264Gly) c.936A>G (n.936A>G) c.731A>G (p.Asp244Gly) c.854A>G (p.Asp285Gly) c.806A>G (p.Asp269Gly) c.830A>G (p.Asp277Gly) c.443A>G (p.Asp148Gly) | |
7 | g.128398427T>G | CA369167859 | IMPDH1 | c.953A>C (p.Asp318Ala) n.936A>C c.1061A>C (p.Asp354Ala) c.693A>C c.1031A>C (p.Asp344Ala) c.962A>C (p.Asp321Ala) c.826A>C c.803A>C (p.Asp268Ala) c.791A>C (p.Asp264Ala) c.936A>C (n.936A>C) c.731A>C (p.Asp244Ala) c.854A>C (p.Asp285Ala) c.806A>C (p.Asp269Ala) c.830A>C (p.Asp277Ala) c.443A>C (p.Asp148Ala) | |
7 | g.128398428C>A | CA369167861 | IMPDH1 | c.952G>T (p.Asp318Tyr) n.935G>T c.1060G>T (p.Asp354Tyr) c.692G>T c.1030G>T (p.Asp344Tyr) c.961G>T (p.Asp321Tyr) c.825G>T c.802G>T (p.Asp268Tyr) c.790G>T (p.Asp264Tyr) c.935G>T (n.935G>T) c.730G>T (p.Asp244Tyr) c.853G>T (p.Asp285Tyr) c.805G>T (p.Asp269Tyr) c.829G>T (p.Asp277Tyr) c.442G>T (p.Asp148Tyr) | |
7 | g.128398428C= | CA1742366457 | IMPDH1 | c.952G= (p.Asp318=) n.935G= c.1060G= (p.Asp354=) c.692G= c.1030G= (p.Asp344=) c.961G= (p.Asp321=) c.825G= c.802G= (p.Asp268=) c.790G= (p.Asp264=) c.935G= (n.935G=) c.730G= (p.Asp244=) c.853G= (p.Asp285=) c.805G= (p.Asp269=) c.829G= (p.Asp277=) c.442G= (p.Asp148=) | |
7 | g.128398428C>G | CA369167863 | IMPDH1 | c.952G>C (p.Asp318His) n.935G>C c.1060G>C (p.Asp354His) c.692G>C c.1030G>C (p.Asp344His) c.961G>C (p.Asp321His) c.825G>C c.802G>C (p.Asp268His) c.790G>C (p.Asp264His) c.935G>C (n.935G>C) c.730G>C (p.Asp244His) c.853G>C (p.Asp285His) c.805G>C (p.Asp269His) c.829G>C (p.Asp277His) c.442G>C (p.Asp148His) | |
7 | g.128398428C>T | CA4470971 | IMPDH1 | c.952G>A (p.Asp318Asn) n.935G>A c.1060G>A (p.Asp354Asn) c.692G>A c.1030G>A (p.Asp344Asn) c.961G>A (p.Asp321Asn) c.825G>A c.802G>A (p.Asp268Asn) c.790G>A (p.Asp264Asn) c.935G>A (n.935G>A) c.730G>A (p.Asp244Asn) c.853G>A (p.Asp285Asn) c.805G>A (p.Asp269Asn) c.829G>A (p.Asp277Asn) c.442G>A (p.Asp148Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398429G>A | CA4470972 | IMPDH1 | c.951C>T (p.Val317=) n.934C>T c.1059C>T (p.Val353=) c.691C>T c.1029C>T (p.Val343=) c.960C>T (p.Val320=) c.824C>T c.801C>T (p.Val267=) c.789C>T (p.Val263=) c.934C>T (n.934C>T) c.729C>T (p.Val243=) c.852C>T (p.Val284=) c.804C>T (p.Val268=) c.828C>T (p.Val276=) c.441C>T (p.Val147=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398429G>C | CA457528164 | IMPDH1 | c.951C>G (p.Val317=) n.934C>G c.1059C>G (p.Val353=) c.691C>G c.1029C>G (p.Val343=) c.960C>G (p.Val320=) c.824C>G c.801C>G (p.Val267=) c.789C>G (p.Val263=) c.934C>G (n.934C>G) c.729C>G (p.Val243=) c.852C>G (p.Val284=) c.804C>G (p.Val268=) c.828C>G (p.Val276=) c.441C>G (p.Val147=) | gnomAD v4 |
7 | g.128398429G= | CA1742366462 | IMPDH1 | c.951C= (p.Val317=) n.934C= c.1059C= (p.Val353=) c.691C= c.1029C= (p.Val343=) c.960C= (p.Val320=) c.824C= c.801C= (p.Val267=) c.789C= (p.Val263=) c.934C= (n.934C=) c.729C= (p.Val243=) c.852C= (p.Val284=) c.804C= (p.Val268=) c.828C= (p.Val276=) c.441C= (p.Val147=) | |
7 | g.128398429G>T | CA457528165 | IMPDH1 | c.951C>A (p.Val317=) n.934C>A c.1059C>A (p.Val353=) c.691C>A c.1029C>A (p.Val343=) c.960C>A (p.Val320=) c.824C>A c.801C>A (p.Val267=) c.789C>A (p.Val263=) c.934C>A (n.934C>A) c.729C>A (p.Val243=) c.852C>A (p.Val284=) c.804C>A (p.Val268=) c.828C>A (p.Val276=) c.441C>A (p.Val147=) | |
7 | g.128398430A>C | CA369167870 | IMPDH1 | c.950T>G (p.Val317Gly) n.933T>G c.1058T>G (p.Val353Gly) c.690T>G c.1028T>G (p.Val343Gly) c.959T>G (p.Val320Gly) c.823T>G c.800T>G (p.Val267Gly) c.788T>G (p.Val263Gly) c.933T>G (n.933T>G) c.728T>G (p.Val243Gly) c.851T>G (p.Val284Gly) c.803T>G (p.Val268Gly) c.827T>G (p.Val276Gly) c.440T>G (p.Val147Gly) | |
7 | g.128398430A>G | CA369167871 | IMPDH1 | c.950T>C (p.Val317Ala) n.933T>C c.1058T>C (p.Val353Ala) c.690T>C c.1028T>C (p.Val343Ala) c.959T>C (p.Val320Ala) c.823T>C c.800T>C (p.Val267Ala) c.788T>C (p.Val263Ala) c.933T>C (n.933T>C) c.728T>C (p.Val243Ala) c.851T>C (p.Val284Ala) c.803T>C (p.Val268Ala) c.827T>C (p.Val276Ala) c.440T>C (p.Val147Ala) | |
7 | g.128398430A>T | CA369167872 | IMPDH1 | c.950T>A (p.Val317Asp) n.933T>A c.1058T>A (p.Val353Asp) c.690T>A c.1028T>A (p.Val343Asp) c.959T>A (p.Val320Asp) c.823T>A c.800T>A (p.Val267Asp) c.788T>A (p.Val263Asp) c.933T>A (n.933T>A) c.728T>A (p.Val243Asp) c.851T>A (p.Val284Asp) c.803T>A (p.Val268Asp) c.827T>A (p.Val276Asp) c.440T>A (p.Val147Asp) | |
7 | g.128398431C>A | CA369167877 | IMPDH1 | c.949G>T (p.Val317Phe) n.932G>T c.1057G>T (p.Val353Phe) c.689G>T c.1027G>T (p.Val343Phe) c.958G>T (p.Val320Phe) c.822G>T c.799G>T (p.Val267Phe) c.787G>T (p.Val263Phe) c.932G>T (n.932G>T) c.727G>T (p.Val243Phe) c.850G>T (p.Val284Phe) c.802G>T (p.Val268Phe) c.826G>T (p.Val276Phe) c.439G>T (p.Val147Phe) | |
7 | g.128398431C= | CA1742366465 | IMPDH1 | c.949G= (p.Val317=) n.932G= c.1057G= (p.Val353=) c.689G= c.1027G= (p.Val343=) c.958G= (p.Val320=) c.822G= c.799G= (p.Val267=) c.787G= (p.Val263=) c.932G= (n.932G=) c.727G= (p.Val243=) c.850G= (p.Val284=) c.802G= (p.Val268=) c.826G= (p.Val276=) c.439G= (p.Val147=) | |
7 | g.128398431C>G | CA369167876 | IMPDH1 | c.949G>C (p.Val317Leu) n.932G>C c.1057G>C (p.Val353Leu) c.689G>C c.1027G>C (p.Val343Leu) c.958G>C (p.Val320Leu) c.822G>C c.799G>C (p.Val267Leu) c.787G>C (p.Val263Leu) c.932G>C (n.932G>C) c.727G>C (p.Val243Leu) c.850G>C (p.Val284Leu) c.802G>C (p.Val268Leu) c.826G>C (p.Val276Leu) c.439G>C (p.Val147Leu) | |
7 | g.128398431C>T | CA257377 | IMPDH1 | c.949G>A (p.Val317Ile) n.932G>A c.1057G>A (p.Val353Ile) c.689G>A c.1027G>A (p.Val343Ile) c.958G>A (p.Val320Ile) c.822G>A c.799G>A (p.Val267Ile) c.787G>A (p.Val263Ile) c.932G>A (n.932G>A) c.727G>A (p.Val243Ile) c.850G>A (p.Val284Ile) c.802G>A (p.Val268Ile) c.826G>A (p.Val276Ile) c.439G>A (p.Val147Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.128398432G>A | CA4470973 | IMPDH1 | c.948C>T (p.Gly316=) n.931C>T c.1056C>T (p.Gly352=) c.688C>T c.1026C>T (p.Gly342=) c.957C>T (p.Gly319=) c.821C>T c.798C>T (p.Gly266=) c.786C>T (p.Gly262=) c.931C>T (n.931C>T) c.726C>T (p.Gly242=) c.849C>T (p.Gly283=) c.801C>T (p.Gly267=) c.825C>T (p.Gly275=) c.438C>T (p.Gly146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398432G>C | CA457528171 | IMPDH1 | c.948C>G (p.Gly316=) n.931C>G c.1056C>G (p.Gly352=) c.688C>G c.1026C>G (p.Gly342=) c.957C>G (p.Gly319=) c.821C>G c.798C>G (p.Gly266=) c.786C>G (p.Gly262=) c.931C>G (n.931C>G) c.726C>G (p.Gly242=) c.849C>G (p.Gly283=) c.801C>G (p.Gly267=) c.825C>G (p.Gly275=) c.438C>G (p.Gly146=) | |
7 | g.128398432G= | CA1742366474 | IMPDH1 | c.948C= (p.Gly316=) n.931C= c.1056C= (p.Gly352=) c.688C= c.1026C= (p.Gly342=) c.957C= (p.Gly319=) c.821C= c.798C= (p.Gly266=) c.786C= (p.Gly262=) c.931C= (n.931C=) c.726C= (p.Gly242=) c.849C= (p.Gly283=) c.801C= (p.Gly267=) c.825C= (p.Gly275=) c.438C= (p.Gly146=) | |
7 | g.128398432G>T | CA457528170 | IMPDH1 | c.948C>A (p.Gly316=) n.931C>A c.1056C>A (p.Gly352=) c.688C>A c.1026C>A (p.Gly342=) c.957C>A (p.Gly319=) c.821C>A c.798C>A (p.Gly266=) c.786C>A (p.Gly262=) c.931C>A (n.931C>A) c.726C>A (p.Gly242=) c.849C>A (p.Gly283=) c.801C>A (p.Gly267=) c.825C>A (p.Gly275=) c.438C>A (p.Gly146=) | |
7 | g.128398433C>A | CA369167894 | IMPDH1 | c.947G>T (p.Gly316Val) n.930G>T c.1055G>T (p.Gly352Val) c.687G>T c.1025G>T (p.Gly342Val) c.956G>T (p.Gly319Val) c.820G>T c.797G>T (p.Gly266Val) c.785G>T (p.Gly262Val) c.930G>T (n.930G>T) c.725G>T (p.Gly242Val) c.848G>T (p.Gly283Val) c.800G>T (p.Gly267Val) c.824G>T (p.Gly275Val) c.437G>T (p.Gly146Val) | |
7 | g.128398433C>G | CA369167888 | IMPDH1 | c.947G>C (p.Gly316Ala) n.930G>C c.1055G>C (p.Gly352Ala) c.687G>C c.1025G>C (p.Gly342Ala) c.956G>C (p.Gly319Ala) c.820G>C c.797G>C (p.Gly266Ala) c.785G>C (p.Gly262Ala) c.930G>C (n.930G>C) c.725G>C (p.Gly242Ala) c.848G>C (p.Gly283Ala) c.800G>C (p.Gly267Ala) c.824G>C (p.Gly275Ala) c.437G>C (p.Gly146Ala) | |
7 | g.128398433C>T | CA369167892 | IMPDH1 | c.947G>A (p.Gly316Asp) n.930G>A c.1055G>A (p.Gly352Asp) c.687G>A c.1025G>A (p.Gly342Asp) c.956G>A (p.Gly319Asp) c.820G>A c.797G>A (p.Gly266Asp) c.785G>A (p.Gly262Asp) c.930G>A (n.930G>A) c.725G>A (p.Gly242Asp) c.848G>A (p.Gly283Asp) c.800G>A (p.Gly267Asp) c.824G>A (p.Gly275Asp) c.437G>A (p.Gly146Asp) | COSMIC |
7 | g.128398434C>A | CA369167904 | IMPDH1 | c.946G>T (p.Gly316Cys) n.929G>T c.1054G>T (p.Gly352Cys) c.686G>T c.1024G>T (p.Gly342Cys) c.955G>T (p.Gly319Cys) c.819G>T c.796G>T (p.Gly266Cys) c.784G>T (p.Gly262Cys) c.929G>T (n.929G>T) c.724G>T (p.Gly242Cys) c.847G>T (p.Gly283Cys) c.799G>T (p.Gly267Cys) c.823G>T (p.Gly275Cys) c.436G>T (p.Gly146Cys) | |
7 | g.128398434C>G | CA369167911 | IMPDH1 | c.946G>C (p.Gly316Arg) n.929G>C c.1054G>C (p.Gly352Arg) c.686G>C c.1024G>C (p.Gly342Arg) c.955G>C (p.Gly319Arg) c.819G>C c.796G>C (p.Gly266Arg) c.784G>C (p.Gly262Arg) c.929G>C (n.929G>C) c.724G>C (p.Gly242Arg) c.847G>C (p.Gly283Arg) c.799G>C (p.Gly267Arg) c.823G>C (p.Gly275Arg) c.436G>C (p.Gly146Arg) | gnomAD v4 |
7 | g.128398434C>T | CA369167930 | IMPDH1 | c.946G>A (p.Gly316Ser) n.929G>A c.1054G>A (p.Gly352Ser) c.686G>A c.1024G>A (p.Gly342Ser) c.955G>A (p.Gly319Ser) c.819G>A c.796G>A (p.Gly266Ser) c.784G>A (p.Gly262Ser) c.929G>A (n.929G>A) c.724G>A (p.Gly242Ser) c.847G>A (p.Gly283Ser) c.799G>A (p.Gly267Ser) c.823G>A (p.Gly275Ser) c.436G>A (p.Gly146Ser) | gnomAD v4 |
7 | g.128398435C>A | CA457528174 | IMPDH1 | c.945G>T (p.Ala315=) n.928G>T c.1053G>T (p.Ala351=) c.685G>T c.1023G>T (p.Ala341=) c.954G>T (p.Ala318=) c.818G>T c.795G>T (p.Ala265=) c.783G>T (p.Ala261=) c.928G>T (n.928G>T) c.723G>T (p.Ala241=) c.846G>T (p.Ala282=) c.798G>T (p.Ala266=) c.822G>T (p.Ala274=) c.435G>T (p.Ala145=) | |
7 | g.128398435C= | CA1742366481 | IMPDH1 | c.945G= (p.Ala315=) n.928G= c.1053G= (p.Ala351=) c.685G= c.1023G= (p.Ala341=) c.954G= (p.Ala318=) c.818G= c.795G= (p.Ala265=) c.783G= (p.Ala261=) c.928G= (n.928G=) c.723G= (p.Ala241=) c.846G= (p.Ala282=) c.798G= (p.Ala266=) c.822G= (p.Ala274=) c.435G= (p.Ala145=) | |
7 | g.128398435C>G | CA457528175 | IMPDH1 | c.945G>C (p.Ala315=) n.928G>C c.1053G>C (p.Ala351=) c.685G>C c.1023G>C (p.Ala341=) c.954G>C (p.Ala318=) c.818G>C c.795G>C (p.Ala265=) c.783G>C (p.Ala261=) c.928G>C (n.928G>C) c.723G>C (p.Ala241=) c.846G>C (p.Ala282=) c.798G>C (p.Ala266=) c.822G>C (p.Ala274=) c.435G>C (p.Ala145=) | |
7 | g.128398435C>T | CA166126031 | IMPDH1 | c.945G>A (p.Ala315=) n.928G>A c.1053G>A (p.Ala351=) c.685G>A c.1023G>A (p.Ala341=) c.954G>A (p.Ala318=) c.818G>A c.795G>A (p.Ala265=) c.783G>A (p.Ala261=) c.928G>A (n.928G>A) c.723G>A (p.Ala241=) c.846G>A (p.Ala282=) c.798G>A (p.Ala266=) c.822G>A (p.Ala274=) c.435G>A (p.Ala145=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.128398436G>A | CA4470974 | IMPDH1 | c.944C>T (p.Ala315Val) n.927C>T c.1052C>T (p.Ala351Val) c.684C>T c.1022C>T (p.Ala341Val) c.953C>T (p.Ala318Val) c.817C>T c.794C>T (p.Ala265Val) c.782C>T (p.Ala261Val) c.927C>T (n.927C>T) c.722C>T (p.Ala241Val) c.845C>T (p.Ala282Val) c.797C>T (p.Ala266Val) c.821C>T (p.Ala274Val) c.434C>T (p.Ala145Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.128398436G>C | CA369167947 | IMPDH1 | c.944C>G (p.Ala315Gly) n.927C>G c.1052C>G (p.Ala351Gly) c.684C>G c.1022C>G (p.Ala341Gly) c.953C>G (p.Ala318Gly) c.817C>G c.794C>G (p.Ala265Gly) c.782C>G (p.Ala261Gly) c.927C>G (n.927C>G) c.722C>G (p.Ala241Gly) c.845C>G (p.Ala282Gly) c.797C>G (p.Ala266Gly) c.821C>G (p.Ala274Gly) c.434C>G (p.Ala145Gly) | |
7 | g.128398436G= | CA1742366489 | IMPDH1 | c.944C= (p.Ala315=) n.927C= c.1052C= (p.Ala351=) c.684C= c.1022C= (p.Ala341=) c.953C= (p.Ala318=) c.817C= c.794C= (p.Ala265=) c.782C= (p.Ala261=) c.927C= (n.927C=) c.722C= (p.Ala241=) c.845C= (p.Ala282=) c.797C= (p.Ala266=) c.821C= (p.Ala274=) c.434C= (p.Ala145=) | |
7 | g.128398436G>T | CA369167963 | IMPDH1 | c.944C>A (p.Ala315Glu) n.927C>A c.1052C>A (p.Ala351Glu) c.684C>A c.1022C>A (p.Ala341Glu) c.953C>A (p.Ala318Glu) c.817C>A c.794C>A (p.Ala265Glu) c.782C>A (p.Ala261Glu) c.927C>A (n.927C>A) c.722C>A (p.Ala241Glu) c.845C>A (p.Ala282Glu) c.797C>A (p.Ala266Glu) c.821C>A (p.Ala274Glu) c.434C>A (p.Ala145Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.128398437C>A | CA369167967 | IMPDH1 | c.943G>T (p.Ala315Ser) n.926G>T c.1051G>T (p.Ala351Ser) c.683G>T c.1021G>T (p.Ala341Ser) c.952G>T (p.Ala318Ser) c.816G>T c.793G>T (p.Ala265Ser) c.781G>T (p.Ala261Ser) c.926G>T (n.926G>T) c.721G>T (p.Ala241Ser) c.844G>T (p.Ala282Ser) c.796G>T (p.Ala266Ser) c.820G>T (p.Ala274Ser) c.433G>T (p.Ala145Ser) | |
7 | g.128398437C>G | CA369167969 | IMPDH1 | c.943G>C (p.Ala315Pro) n.926G>C c.1051G>C (p.Ala351Pro) c.683G>C c.1021G>C (p.Ala341Pro) c.952G>C (p.Ala318Pro) c.816G>C c.793G>C (p.Ala265Pro) c.781G>C (p.Ala261Pro) c.926G>C (n.926G>C) c.721G>C (p.Ala241Pro) c.844G>C (p.Ala282Pro) c.796G>C (p.Ala266Pro) c.820G>C (p.Ala274Pro) c.433G>C (p.Ala145Pro) | |
7 | g.128398437C>T | CA369167971 | IMPDH1 | c.943G>A (p.Ala315Thr) n.926G>A c.1051G>A (p.Ala351Thr) c.683G>A c.1021G>A (p.Ala341Thr) c.952G>A (p.Ala318Thr) c.816G>A c.793G>A (p.Ala265Thr) c.781G>A (p.Ala261Thr) c.926G>A (n.926G>A) c.721G>A (p.Ala241Thr) c.844G>A (p.Ala282Thr) c.796G>A (p.Ala266Thr) c.820G>A (p.Ala274Thr) c.433G>A (p.Ala145Thr) | |
7 | g.128398438C>A | CA369167978 | IMPDH1 | c.942G>T (p.Gln314His) n.925G>T c.1050G>T (p.Gln350His) c.682G>T c.1020G>T (p.Gln340His) c.951G>T (p.Gln317His) c.815G>T c.792G>T (p.Gln264His) c.780G>T (p.Gln260His) c.925G>T (n.925G>T) c.720G>T (p.Gln240His) c.843G>T (p.Gln281His) c.795G>T (p.Gln265His) c.819G>T (p.Gln273His) c.432G>T (p.Gln144His) | |
7 | g.128398438C= | CA1742366495 | IMPDH1 | c.942G= (p.Gln314=) n.925G= c.1050G= (p.Gln350=) c.682G= c.1020G= (p.Gln340=) c.951G= (p.Gln317=) c.815G= c.792G= (p.Gln264=) c.780G= (p.Gln260=) c.925G= (n.925G=) c.720G= (p.Gln240=) c.843G= (p.Gln281=) c.795G= (p.Gln265=) c.819G= (p.Gln273=) c.432G= (p.Gln144=) | |
7 | g.128398438C>G | CA369167974 | IMPDH1 | c.942G>C (p.Gln314His) n.925G>C c.1050G>C (p.Gln350His) c.682G>C c.1020G>C (p.Gln340His) c.951G>C (p.Gln317His) c.815G>C c.792G>C (p.Gln264His) c.780G>C (p.Gln260His) c.925G>C (n.925G>C) c.720G>C (p.Gln240His) c.843G>C (p.Gln281His) c.795G>C (p.Gln265His) c.819G>C (p.Gln273His) c.432G>C (p.Gln144His) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128398438C>T | CA457528178 | IMPDH1 | c.942G>A (p.Gln314=) n.925G>A c.1050G>A (p.Gln350=) c.682G>A c.1020G>A (p.Gln340=) c.951G>A (p.Gln317=) c.815G>A c.792G>A (p.Gln264=) c.780G>A (p.Gln260=) c.925G>A (n.925G>A) c.720G>A (p.Gln240=) c.843G>A (p.Gln281=) c.795G>A (p.Gln265=) c.819G>A (p.Gln273=) c.432G>A (p.Gln144=) | |
7 | g.128398439T>A | CA369167979 | IMPDH1 | c.941A>T (p.Gln314Leu) n.924A>T c.1049A>T (p.Gln350Leu) c.681A>T c.1019A>T (p.Gln340Leu) c.950A>T (p.Gln317Leu) c.814A>T c.791A>T (p.Gln264Leu) c.779A>T (p.Gln260Leu) c.924A>T (n.924A>T) c.719A>T (p.Gln240Leu) c.842A>T (p.Gln281Leu) c.794A>T (p.Gln265Leu) c.818A>T (p.Gln273Leu) c.431A>T (p.Gln144Leu) | |
7 | g.128398439T>C | CA369167991 | IMPDH1 | c.941A>G (p.Gln314Arg) n.924A>G c.1049A>G (p.Gln350Arg) c.681A>G c.1019A>G (p.Gln340Arg) c.950A>G (p.Gln317Arg) c.814A>G c.791A>G (p.Gln264Arg) c.779A>G (p.Gln260Arg) c.924A>G (n.924A>G) c.719A>G (p.Gln240Arg) c.842A>G (p.Gln281Arg) c.794A>G (p.Gln265Arg) c.818A>G (p.Gln273Arg) c.431A>G (p.Gln144Arg) | |
7 | g.128398439T>G | CA369167999 | IMPDH1 | c.941A>C (p.Gln314Pro) n.924A>C c.1049A>C (p.Gln350Pro) c.681A>C c.1019A>C (p.Gln340Pro) c.950A>C (p.Gln317Pro) c.814A>C c.791A>C (p.Gln264Pro) c.779A>C (p.Gln260Pro) c.924A>C (n.924A>C) c.719A>C (p.Gln240Pro) c.842A>C (p.Gln281Pro) c.794A>C (p.Gln265Pro) c.818A>C (p.Gln273Pro) c.431A>C (p.Gln144Pro) | |
7 | g.128398440G>A | CA369168007 | IMPDH1 | c.940C>T (p.Gln314Ter) n.923C>T c.1048C>T (p.Gln350Ter) c.680C>T c.1018C>T (p.Gln340Ter) c.949C>T (p.Gln317Ter) c.813C>T c.790C>T (p.Gln264Ter) c.778C>T (p.Gln260Ter) c.923C>T (n.923C>T) c.718C>T (p.Gln240Ter) c.841C>T (p.Gln281Ter) c.793C>T (p.Gln265Ter) c.817C>T (p.Gln273Ter) c.430C>T (p.Gln144Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.128398440G>C | CA369168011 | IMPDH1 | c.940C>G (p.Gln314Glu) n.923C>G c.1048C>G (p.Gln350Glu) c.680C>G c.1018C>G (p.Gln340Glu) c.949C>G (p.Gln317Glu) c.813C>G c.790C>G (p.Gln264Glu) c.778C>G (p.Gln260Glu) c.923C>G (n.923C>G) c.718C>G (p.Gln240Glu) c.841C>G (p.Gln281Glu) c.793C>G (p.Gln265Glu) c.817C>G (p.Gln273Glu) c.430C>G (p.Gln144Glu) | gnomAD v4 |
7 | g.128398440G= | CA1742366496 | IMPDH1 | c.940C= (p.Gln314=) n.923C= c.1048C= (p.Gln350=) c.680C= c.1018C= (p.Gln340=) c.949C= (p.Gln317=) c.813C= c.790C= (p.Gln264=) c.778C= (p.Gln260=) c.923C= (n.923C=) c.718C= (p.Gln240=) c.841C= (p.Gln281=) c.793C= (p.Gln265=) c.817C= (p.Gln273=) c.430C= (p.Gln144=) | |
7 | g.128398440G>T | CA369168019 | IMPDH1 | c.940C>A (p.Gln314Lys) n.923C>A c.1048C>A (p.Gln350Lys) c.680C>A c.1018C>A (p.Gln340Lys) c.949C>A (p.Gln317Lys) c.813C>A c.790C>A (p.Gln264Lys) c.778C>A (p.Gln260Lys) c.923C>A (n.923C>A) c.718C>A (p.Gln240Lys) c.841C>A (p.Gln281Lys) c.793C>A (p.Gln265Lys) c.817C>A (p.Gln273Lys) c.430C>A (p.Gln144Lys) | ClinVar gnomAD v4 |
7 | g.128398441G>A | CA457528182 | IMPDH1 | c.939C>T (p.Thr313=) n.922C>T c.1047C>T (p.Thr349=) c.679C>T c.1017C>T (p.Thr339=) c.948C>T (p.Thr316=) c.812C>T c.789C>T (p.Thr263=) c.777C>T (p.Thr259=) c.922C>T (n.922C>T) c.717C>T (p.Thr239=) c.840C>T (p.Thr280=) c.792C>T (p.Thr264=) c.816C>T (p.Thr272=) c.429C>T (p.Thr143=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128398441G>C | CA457528180 | IMPDH1 | c.939C>G (p.Thr313=) n.922C>G c.1047C>G (p.Thr349=) c.679C>G c.1017C>G (p.Thr339=) c.948C>G (p.Thr316=) c.812C>G c.789C>G (p.Thr263=) c.777C>G (p.Thr259=) c.922C>G (n.922C>G) c.717C>G (p.Thr239=) c.840C>G (p.Thr280=) c.792C>G (p.Thr264=) c.816C>G (p.Thr272=) c.429C>G (p.Thr143=) | |
7 | g.128398441G= | CA1742366499 | IMPDH1 | c.939C= (p.Thr313=) n.922C= c.1047C= (p.Thr349=) c.679C= c.1017C= (p.Thr339=) c.948C= (p.Thr316=) c.812C= c.789C= (p.Thr263=) c.777C= (p.Thr259=) c.922C= (n.922C=) c.717C= (p.Thr239=) c.840C= (p.Thr280=) c.792C= (p.Thr264=) c.816C= (p.Thr272=) c.429C= (p.Thr143=) | |
7 | g.128398441G>T | CA457528181 | IMPDH1 | c.939C>A (p.Thr313=) n.922C>A c.1047C>A (p.Thr349=) c.679C>A c.1017C>A (p.Thr339=) c.948C>A (p.Thr316=) c.812C>A c.789C>A (p.Thr263=) c.777C>A (p.Thr259=) c.922C>A (n.922C>A) c.717C>A (p.Thr239=) c.840C>A (p.Thr280=) c.792C>A (p.Thr264=) c.816C>A (p.Thr272=) c.429C>A (p.Thr143=) | gnomAD v4 |
7 | g.128398442G>A | CA4470975 | IMPDH1 | c.938C>T (p.Thr313Ile) n.921C>T c.1046C>T (p.Thr349Ile) c.678C>T c.1016C>T (p.Thr339Ile) c.947C>T (p.Thr316Ile) c.811C>T c.788C>T (p.Thr263Ile) c.776C>T (p.Thr259Ile) c.921C>T (n.921C>T) c.716C>T (p.Thr239Ile) c.839C>T (p.Thr280Ile) c.791C>T (p.Thr264Ile) c.815C>T (p.Thr272Ile) c.428C>T (p.Thr143Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128398442G>C | CA369168038 | IMPDH1 | c.938C>G (p.Thr313Ser) n.921C>G c.1046C>G (p.Thr349Ser) c.678C>G c.1016C>G (p.Thr339Ser) c.947C>G (p.Thr316Ser) c.811C>G c.788C>G (p.Thr263Ser) c.776C>G (p.Thr259Ser) c.921C>G (n.921C>G) c.716C>G (p.Thr239Ser) c.839C>G (p.Thr280Ser) c.791C>G (p.Thr264Ser) c.815C>G (p.Thr272Ser) c.428C>G (p.Thr143Ser) | |
7 | g.128398442G= | CA1742366509 | IMPDH1 | c.938C= (p.Thr313=) n.921C= c.1046C= (p.Thr349=) c.678C= c.1016C= (p.Thr339=) c.947C= (p.Thr316=) c.811C= c.788C= (p.Thr263=) c.776C= (p.Thr259=) c.921C= (n.921C=) c.716C= (p.Thr239=) c.839C= (p.Thr280=) c.791C= (p.Thr264=) c.815C= (p.Thr272=) c.428C= (p.Thr143=) | |
7 | g.128398442G>T | CA369168043 | IMPDH1 | c.938C>A (p.Thr313Asn) n.921C>A c.1046C>A (p.Thr349Asn) c.678C>A c.1016C>A (p.Thr339Asn) c.947C>A (p.Thr316Asn) c.811C>A c.788C>A (p.Thr263Asn) c.776C>A (p.Thr259Asn) c.921C>A (n.921C>A) c.716C>A (p.Thr239Asn) c.839C>A (p.Thr280Asn) c.791C>A (p.Thr264Asn) c.815C>A (p.Thr272Asn) c.428C>A (p.Thr143Asn) | |
7 | g.128398443T>A | CA369168055 | IMPDH1 | c.937A>T (p.Thr313Ser) n.920A>T c.1045A>T (p.Thr349Ser) c.677A>T c.1015A>T (p.Thr339Ser) c.946A>T (p.Thr316Ser) c.810A>T c.787A>T (p.Thr263Ser) c.775A>T (p.Thr259Ser) c.920A>T (n.920A>T) c.715A>T (p.Thr239Ser) c.838A>T (p.Thr280Ser) c.790A>T (p.Thr264Ser) c.814A>T (p.Thr272Ser) c.427A>T (p.Thr143Ser) | |
7 | g.128398443T>C | CA369168061 | IMPDH1 | c.937A>G (p.Thr313Ala) n.920A>G c.1045A>G (p.Thr349Ala) c.677A>G c.1015A>G (p.Thr339Ala) c.946A>G (p.Thr316Ala) c.810A>G c.787A>G (p.Thr263Ala) c.775A>G (p.Thr259Ala) c.920A>G (n.920A>G) c.715A>G (p.Thr239Ala) c.838A>G (p.Thr280Ala) c.790A>G (p.Thr264Ala) c.814A>G (p.Thr272Ala) c.427A>G (p.Thr143Ala) | |
7 | g.128398443T>G | CA369168069 | IMPDH1 | c.937A>C (p.Thr313Pro) n.920A>C c.1045A>C (p.Thr349Pro) c.677A>C c.1015A>C (p.Thr339Pro) c.946A>C (p.Thr316Pro) c.810A>C c.787A>C (p.Thr263Pro) c.775A>C (p.Thr259Pro) c.920A>C (n.920A>C) c.715A>C (p.Thr239Pro) c.838A>C (p.Thr280Pro) c.790A>C (p.Thr264Pro) c.814A>C (p.Thr272Pro) c.427A>C (p.Thr143Pro) | |
7 | g.128398444G>A | CA457528186 | IMPDH1 | c.936C>T (p.Leu312=) n.919C>T c.1044C>T (p.Leu348=) c.676C>T c.1014C>T (p.Leu338=) c.945C>T (p.Leu315=) c.809C>T c.786C>T (p.Leu262=) c.774C>T (p.Leu258=) c.919C>T (n.919C>T) c.714C>T (p.Leu238=) c.837C>T (p.Leu279=) c.789C>T (p.Leu263=) c.813C>T (p.Leu271=) c.426C>T (p.Leu142=) | |
7 | g.128398444G>C | CA457528187 | IMPDH1 | c.936C>G (p.Leu312=) n.919C>G c.1044C>G (p.Leu348=) c.676C>G c.1014C>G (p.Leu338=) c.945C>G (p.Leu315=) c.809C>G c.786C>G (p.Leu262=) c.774C>G (p.Leu258=) c.919C>G (n.919C>G) c.714C>G (p.Leu238=) c.837C>G (p.Leu279=) c.789C>G (p.Leu263=) c.813C>G (p.Leu271=) c.426C>G (p.Leu142=) | |
7 | g.128398444G>T | CA457528188 | IMPDH1 | c.936C>A (p.Leu312=) n.919C>A c.1044C>A (p.Leu348=) c.676C>A c.1014C>A (p.Leu338=) c.945C>A (p.Leu315=) c.809C>A c.786C>A (p.Leu262=) c.774C>A (p.Leu258=) c.919C>A (n.919C>A) c.714C>A (p.Leu238=) c.837C>A (p.Leu279=) c.789C>A (p.Leu263=) c.813C>A (p.Leu271=) c.426C>A (p.Leu142=) | |
7 | g.128398445A>C | CA369168090 | IMPDH1 | c.935T>G (p.Leu312Arg) n.918T>G c.1043T>G (p.Leu348Arg) c.675T>G c.1013T>G (p.Leu338Arg) c.944T>G (p.Leu315Arg) c.808T>G c.785T>G (p.Leu262Arg) c.773T>G (p.Leu258Arg) c.918T>G (n.918T>G) c.713T>G (p.Leu238Arg) c.836T>G (p.Leu279Arg) c.788T>G (p.Leu263Arg) c.812T>G (p.Leu271Arg) c.425T>G (p.Leu142Arg) | gnomAD v4 |
7 | g.128398445A>G | CA369168092 | IMPDH1 | c.935T>C (p.Leu312Pro) n.918T>C c.1043T>C (p.Leu348Pro) c.675T>C c.1013T>C (p.Leu338Pro) c.944T>C (p.Leu315Pro) c.808T>C c.785T>C (p.Leu262Pro) c.773T>C (p.Leu258Pro) c.918T>C (n.918T>C) c.713T>C (p.Leu238Pro) c.836T>C (p.Leu279Pro) c.788T>C (p.Leu263Pro) c.812T>C (p.Leu271Pro) c.425T>C (p.Leu142Pro) | |
7 | g.128398445A>T | CA369168078 | IMPDH1 | c.935T>A (p.Leu312His) n.918T>A c.1043T>A (p.Leu348His) c.675T>A c.1013T>A (p.Leu338His) c.944T>A (p.Leu315His) c.808T>A c.785T>A (p.Leu262His) c.773T>A (p.Leu258His) c.918T>A (n.918T>A) c.713T>A (p.Leu238His) c.836T>A (p.Leu279His) c.788T>A (p.Leu263His) c.812T>A (p.Leu271His) c.425T>A (p.Leu142His) | |
7 | g.128398446G>A | CA369168093 | IMPDH1 | c.934C>T (p.Leu312Phe) n.917C>T c.1042C>T (p.Leu348Phe) c.674C>T c.1012C>T (p.Leu338Phe) c.943C>T (p.Leu315Phe) c.807C>T c.784C>T (p.Leu262Phe) c.772C>T (p.Leu258Phe) c.917C>T (n.917C>T) c.712C>T (p.Leu238Phe) c.835C>T (p.Leu279Phe) c.787C>T (p.Leu263Phe) c.811C>T (p.Leu271Phe) c.424C>T (p.Leu142Phe) | |
7 | g.128398446G>C | CA369168094 | IMPDH1 | c.934C>G (p.Leu312Val) n.917C>G c.1042C>G (p.Leu348Val) c.674C>G c.1012C>G (p.Leu338Val) c.943C>G (p.Leu315Val) c.807C>G c.784C>G (p.Leu262Val) c.772C>G (p.Leu258Val) c.917C>G (n.917C>G) c.712C>G (p.Leu238Val) c.835C>G (p.Leu279Val) c.787C>G (p.Leu263Val) c.811C>G (p.Leu271Val) c.424C>G (p.Leu142Val) | |
7 | g.128398446G>T | CA369168099 | IMPDH1 | c.934C>A (p.Leu312Ile) n.917C>A c.1042C>A (p.Leu348Ile) c.674C>A c.1012C>A (p.Leu338Ile) c.943C>A (p.Leu315Ile) c.807C>A c.784C>A (p.Leu262Ile) c.772C>A (p.Leu258Ile) c.917C>A (n.917C>A) c.712C>A (p.Leu238Ile) c.835C>A (p.Leu279Ile) c.787C>A (p.Leu263Ile) c.811C>A (p.Leu271Ile) c.424C>A (p.Leu142Ile) | |
7 | g.128398447C>A | CA457528190 | IMPDH1 | c.933G>T (p.Leu311=) n.916G>T c.1041G>T (p.Leu347=) c.673G>T c.1011G>T (p.Leu337=) c.942G>T (p.Leu314=) c.806G>T c.783G>T (p.Leu261=) c.771G>T (p.Leu257=) c.916G>T (n.916G>T) c.711G>T (p.Leu237=) c.834G>T (p.Leu278=) c.786G>T (p.Leu262=) c.810G>T (p.Leu270=) c.423G>T (p.Leu141=) | |
7 | g.128398447C>G | CA457528191 | IMPDH1 | c.933G>C (p.Leu311=) n.916G>C c.1041G>C (p.Leu347=) c.673G>C c.1011G>C (p.Leu337=) c.942G>C (p.Leu314=) c.806G>C c.783G>C (p.Leu261=) c.771G>C (p.Leu257=) c.916G>C (n.916G>C) c.711G>C (p.Leu237=) c.834G>C (p.Leu278=) c.786G>C (p.Leu262=) c.810G>C (p.Leu270=) c.423G>C (p.Leu141=) | |
7 | g.128398447C>T | CA457528192 | IMPDH1 | c.933G>A (p.Leu311=) n.916G>A c.1041G>A (p.Leu347=) c.673G>A c.1011G>A (p.Leu337=) c.942G>A (p.Leu314=) c.806G>A c.783G>A (p.Leu261=) c.771G>A (p.Leu257=) c.916G>A (n.916G>A) c.711G>A (p.Leu237=) c.834G>A (p.Leu278=) c.786G>A (p.Leu262=) c.810G>A (p.Leu270=) c.423G>A (p.Leu141=) | |
7 | g.128398448A>C | CA369168103 | IMPDH1 | c.932T>G (p.Leu311Arg) n.915T>G c.1040T>G (p.Leu347Arg) c.672T>G c.1010T>G (p.Leu337Arg) c.941T>G (p.Leu314Arg) c.805T>G c.782T>G (p.Leu261Arg) c.770T>G (p.Leu257Arg) c.915T>G (n.915T>G) c.710T>G (p.Leu237Arg) c.833T>G (p.Leu278Arg) c.785T>G (p.Leu262Arg) c.809T>G (p.Leu270Arg) c.422T>G (p.Leu141Arg) | gnomAD v4 |
7 | g.128398448A>G | CA369168110 | IMPDH1 | c.932T>C (p.Leu311Pro) n.915T>C c.1040T>C (p.Leu347Pro) c.672T>C c.1010T>C (p.Leu337Pro) c.941T>C (p.Leu314Pro) c.805T>C c.782T>C (p.Leu261Pro) c.770T>C (p.Leu257Pro) c.915T>C (n.915T>C) c.710T>C (p.Leu237Pro) c.833T>C (p.Leu278Pro) c.785T>C (p.Leu262Pro) c.809T>C (p.Leu270Pro) c.422T>C (p.Leu141Pro) | |
7 | g.128398448A>T | CA369168114 | IMPDH1 | c.932T>A (p.Leu311Gln) n.915T>A c.1040T>A (p.Leu347Gln) c.672T>A c.1010T>A (p.Leu337Gln) c.941T>A (p.Leu314Gln) c.805T>A c.782T>A (p.Leu261Gln) c.770T>A (p.Leu257Gln) c.915T>A (n.915T>A) c.710T>A (p.Leu237Gln) c.833T>A (p.Leu278Gln) c.785T>A (p.Leu262Gln) c.809T>A (p.Leu270Gln) c.422T>A (p.Leu141Gln) | |
7 | g.128398449G>A | CA457528194 | IMPDH1 | c.931C>T (p.Leu311=) n.914C>T c.1039C>T (p.Leu347=) c.671C>T c.1009C>T (p.Leu337=) c.940C>T (p.Leu314=) c.804C>T c.781C>T (p.Leu261=) c.769C>T (p.Leu257=) c.914C>T (n.914C>T) c.709C>T (p.Leu237=) c.832C>T (p.Leu278=) c.784C>T (p.Leu262=) c.808C>T (p.Leu270=) c.421C>T (p.Leu141=) | |
7 | g.128398449G>C | CA369168117 | IMPDH1 | c.931C>G (p.Leu311Val) n.914C>G c.1039C>G (p.Leu347Val) c.671C>G c.1009C>G (p.Leu337Val) c.940C>G (p.Leu314Val) c.804C>G c.781C>G (p.Leu261Val) c.769C>G (p.Leu257Val) c.914C>G (n.914C>G) c.709C>G (p.Leu237Val) c.832C>G (p.Leu278Val) c.784C>G (p.Leu262Val) c.808C>G (p.Leu270Val) c.421C>G (p.Leu141Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128398449G= | CA1742366516 | IMPDH1 | c.931C= (p.Leu311=) n.914C= c.1039C= (p.Leu347=) c.671C= c.1009C= (p.Leu337=) c.940C= (p.Leu314=) c.804C= c.781C= (p.Leu261=) c.769C= (p.Leu257=) c.914C= (n.914C=) c.709C= (p.Leu237=) c.832C= (p.Leu278=) c.784C= (p.Leu262=) c.808C= (p.Leu270=) c.421C= (p.Leu141=) | |
7 | g.128398449G>T | CA369168120 | IMPDH1 | c.931C>A (p.Leu311Met) n.914C>A c.1039C>A (p.Leu347Met) c.671C>A c.1009C>A (p.Leu337Met) c.940C>A (p.Leu314Met) c.804C>A c.781C>A (p.Leu261Met) c.769C>A (p.Leu257Met) c.914C>A (n.914C>A) c.709C>A (p.Leu237Met) c.832C>A (p.Leu278Met) c.784C>A (p.Leu262Met) c.808C>A (p.Leu270Met) c.421C>A (p.Leu141Met) | |
7 | g.128398450G>A | CA457528196 | IMPDH1 | c.930C>T (p.Asp310=) n.913C>T c.1038C>T (p.Asp346=) c.670C>T c.1008C>T (p.Asp336=) c.939C>T (p.Asp313=) c.803C>T c.780C>T (p.Asp260=) c.768C>T (p.Asp256=) c.913C>T (n.913C>T) c.708C>T (p.Asp236=) c.831C>T (p.Asp277=) c.783C>T (p.Asp261=) c.807C>T (p.Asp269=) c.420C>T (p.Asp140=) | |
7 | g.128398450G>C | CA369168134 | IMPDH1 | c.930C>G (p.Asp310Glu) n.913C>G c.1038C>G (p.Asp346Glu) c.670C>G c.1008C>G (p.Asp336Glu) c.939C>G (p.Asp313Glu) c.803C>G c.780C>G (p.Asp260Glu) c.768C>G (p.Asp256Glu) c.913C>G (n.913C>G) c.708C>G (p.Asp236Glu) c.831C>G (p.Asp277Glu) c.783C>G (p.Asp261Glu) c.807C>G (p.Asp269Glu) c.420C>G (p.Asp140Glu) | |
7 | g.128398450G>T | CA369168140 | IMPDH1 | c.930C>A (p.Asp310Glu) n.913C>A c.1038C>A (p.Asp346Glu) c.670C>A c.1008C>A (p.Asp336Glu) c.939C>A (p.Asp313Glu) c.803C>A c.780C>A (p.Asp260Glu) c.768C>A (p.Asp256Glu) c.913C>A (n.913C>A) c.708C>A (p.Asp236Glu) c.831C>A (p.Asp277Glu) c.783C>A (p.Asp261Glu) c.807C>A (p.Asp269Glu) c.420C>A (p.Asp140Glu) | |
7 | g.128398451T>A | CA369168147 | IMPDH1 | c.929A>T (p.Asp310Val) n.912A>T c.1037A>T (p.Asp346Val) c.669A>T c.1007A>T (p.Asp336Val) c.938A>T (p.Asp313Val) c.802A>T c.779A>T (p.Asp260Val) c.767A>T (p.Asp256Val) c.912A>T (n.912A>T) c.707A>T (p.Asp236Val) c.830A>T (p.Asp277Val) c.782A>T (p.Asp261Val) c.806A>T (p.Asp269Val) c.419A>T (p.Asp140Val) | |
7 | g.128398451T>C | CA369168152 | IMPDH1 | c.929A>G (p.Asp310Gly) n.912A>G c.1037A>G (p.Asp346Gly) c.669A>G c.1007A>G (p.Asp336Gly) c.938A>G (p.Asp313Gly) c.802A>G c.779A>G (p.Asp260Gly) c.767A>G (p.Asp256Gly) c.912A>G (n.912A>G) c.707A>G (p.Asp236Gly) c.830A>G (p.Asp277Gly) c.782A>G (p.Asp261Gly) c.806A>G (p.Asp269Gly) c.419A>G (p.Asp140Gly) | gnomAD v3 gnomAD v4 |
7 | g.128398451T>G | CA369168158 | IMPDH1 | c.929A>C (p.Asp310Ala) n.912A>C c.1037A>C (p.Asp346Ala) c.669A>C c.1007A>C (p.Asp336Ala) c.938A>C (p.Asp313Ala) c.802A>C c.779A>C (p.Asp260Ala) c.767A>C (p.Asp256Ala) c.912A>C (n.912A>C) c.707A>C (p.Asp236Ala) c.830A>C (p.Asp277Ala) c.782A>C (p.Asp261Ala) c.806A>C (p.Asp269Ala) c.419A>C (p.Asp140Ala) | |
7 | g.128398452C>A | CA369168176 | IMPDH1 | c.928G>T (p.Asp310Tyr) n.911G>T c.1036G>T (p.Asp346Tyr) c.668G>T c.1006G>T (p.Asp336Tyr) c.937G>T (p.Asp313Tyr) c.801G>T c.778G>T (p.Asp260Tyr) c.766G>T (p.Asp256Tyr) c.911G>T (n.911G>T) c.706G>T (p.Asp236Tyr) c.829G>T (p.Asp277Tyr) c.781G>T (p.Asp261Tyr) c.805G>T (p.Asp269Tyr) c.418G>T (p.Asp140Tyr) | |
7 | g.128398452C>G | CA369168174 | IMPDH1 | c.928G>C (p.Asp310His) n.911G>C c.1036G>C (p.Asp346His) c.668G>C c.1006G>C (p.Asp336His) c.937G>C (p.Asp313His) c.801G>C c.778G>C (p.Asp260His) c.766G>C (p.Asp256His) c.911G>C (n.911G>C) c.706G>C (p.Asp236His) c.829G>C (p.Asp277His) c.781G>C (p.Asp261His) c.805G>C (p.Asp269His) c.418G>C (p.Asp140His) | |
7 | g.128398452C>T | CA369168169 | IMPDH1 | c.928G>A (p.Asp310Asn) n.911G>A c.1036G>A (p.Asp346Asn) c.668G>A c.1006G>A (p.Asp336Asn) c.937G>A (p.Asp313Asn) c.801G>A c.778G>A (p.Asp260Asn) c.766G>A (p.Asp256Asn) c.911G>A (n.911G>A) c.706G>A (p.Asp236Asn) c.829G>A (p.Asp277Asn) c.781G>A (p.Asp261Asn) c.805G>A (p.Asp269Asn) c.418G>A (p.Asp140Asn) | |
7 | g.128398453C>A | CA457528200 | IMPDH1 | c.927G>T (p.Leu309=) n.910G>T c.1035G>T (p.Leu345=) c.667G>T c.1005G>T (p.Leu335=) c.936G>T (p.Leu312=) c.800G>T c.777G>T (p.Leu259=) c.765G>T (p.Leu255=) c.910G>T (n.910G>T) c.705G>T (p.Leu235=) c.828G>T (p.Leu276=) c.780G>T (p.Leu260=) c.804G>T (p.Leu268=) c.417G>T (p.Leu139=) | |
7 | g.128398453C>G | CA457528202 | IMPDH1 | c.927G>C (p.Leu309=) n.910G>C c.1035G>C (p.Leu345=) c.667G>C c.1005G>C (p.Leu335=) c.936G>C (p.Leu312=) c.800G>C c.777G>C (p.Leu259=) c.765G>C (p.Leu255=) c.910G>C (n.910G>C) c.705G>C (p.Leu235=) c.828G>C (p.Leu276=) c.780G>C (p.Leu260=) c.804G>C (p.Leu268=) c.417G>C (p.Leu139=) | |
7 | g.128398453C>T | CA457528204 | IMPDH1 | c.927G>A (p.Leu309=) n.910G>A c.1035G>A (p.Leu345=) c.667G>A c.1005G>A (p.Leu335=) c.936G>A (p.Leu312=) c.800G>A c.777G>A (p.Leu259=) c.765G>A (p.Leu255=) c.910G>A (n.910G>A) c.705G>A (p.Leu235=) c.828G>A (p.Leu276=) c.780G>A (p.Leu260=) c.804G>A (p.Leu268=) c.417G>A (p.Leu139=) | |
7 | g.128398454A>C | CA369168185 | IMPDH1 | c.926T>G (p.Leu309Arg) n.909T>G c.1034T>G (p.Leu345Arg) c.666T>G c.1004T>G (p.Leu335Arg) c.935T>G (p.Leu312Arg) c.799T>G c.776T>G (p.Leu259Arg) c.764T>G (p.Leu255Arg) c.909T>G (n.909T>G) c.704T>G (p.Leu235Arg) c.827T>G (p.Leu276Arg) c.779T>G (p.Leu260Arg) c.803T>G (p.Leu268Arg) c.416T>G (p.Leu139Arg) | |
7 | g.128398454A>G | CA369168186 | IMPDH1 | c.926T>C (p.Leu309Pro) n.909T>C c.1034T>C (p.Leu345Pro) c.666T>C c.1004T>C (p.Leu335Pro) c.935T>C (p.Leu312Pro) c.799T>C c.776T>C (p.Leu259Pro) c.764T>C (p.Leu255Pro) c.909T>C (n.909T>C) c.704T>C (p.Leu235Pro) c.827T>C (p.Leu276Pro) c.779T>C (p.Leu260Pro) c.803T>C (p.Leu268Pro) c.416T>C (p.Leu139Pro) | |
7 | g.128398454A>T | CA369168189 | IMPDH1 | c.926T>A (p.Leu309Gln) n.909T>A c.1034T>A (p.Leu345Gln) c.666T>A c.1004T>A (p.Leu335Gln) c.935T>A (p.Leu312Gln) c.799T>A c.776T>A (p.Leu259Gln) c.764T>A (p.Leu255Gln) c.909T>A (n.909T>A) c.704T>A (p.Leu235Gln) c.827T>A (p.Leu276Gln) c.779T>A (p.Leu260Gln) c.803T>A (p.Leu268Gln) c.416T>A (p.Leu139Gln) | |
7 | g.128398455G>A | CA457528206 | IMPDH1 | c.925C>T (p.Leu309=) n.908C>T c.1033C>T (p.Leu345=) c.665C>T c.1003C>T (p.Leu335=) c.934C>T (p.Leu312=) c.798C>T c.775C>T (p.Leu259=) c.763C>T (p.Leu255=) c.908C>T (n.908C>T) c.703C>T (p.Leu235=) c.826C>T (p.Leu276=) c.778C>T (p.Leu260=) c.802C>T (p.Leu268=) c.415C>T (p.Leu139=) | |
7 | g.128398455G>C | CA369168191 | IMPDH1 | c.925C>G (p.Leu309Val) n.908C>G c.1033C>G (p.Leu345Val) c.665C>G c.1003C>G (p.Leu335Val) c.934C>G (p.Leu312Val) c.798C>G c.775C>G (p.Leu259Val) c.763C>G (p.Leu255Val) c.908C>G (n.908C>G) c.703C>G (p.Leu235Val) c.826C>G (p.Leu276Val) c.778C>G (p.Leu260Val) c.802C>G (p.Leu268Val) c.415C>G (p.Leu139Val) | |
7 | g.128398455G>T | CA369168195 | IMPDH1 | c.925C>A (p.Leu309Met) n.908C>A c.1033C>A (p.Leu345Met) c.665C>A c.1003C>A (p.Leu335Met) c.934C>A (p.Leu312Met) c.798C>A c.775C>A (p.Leu259Met) c.763C>A (p.Leu255Met) c.908C>A (n.908C>A) c.703C>A (p.Leu235Met) c.826C>A (p.Leu276Met) c.778C>A (p.Leu260Met) c.802C>A (p.Leu268Met) c.415C>A (p.Leu139Met) | gnomAD v4 |
7 | g.128398456A>C | CA457528207 | IMPDH1 | c.924T>G (p.Arg308=) n.907T>G c.1032T>G (p.Arg344=) c.664T>G c.1002T>G (p.Arg334=) c.933T>G (p.Arg311=) c.797T>G c.774T>G (p.Arg258=) c.762T>G (p.Arg254=) c.907T>G (n.907T>G) c.702T>G (p.Arg234=) c.825T>G (p.Arg275=) c.777T>G (p.Arg259=) c.801T>G (p.Arg267=) c.414T>G (p.Arg138=) | |
7 | g.128398456A>G | CA457528208 | IMPDH1 | c.924T>C (p.Arg308=) n.907T>C c.1032T>C (p.Arg344=) c.664T>C c.1002T>C (p.Arg334=) c.933T>C (p.Arg311=) c.797T>C c.774T>C (p.Arg258=) c.762T>C (p.Arg254=) c.907T>C (n.907T>C) c.702T>C (p.Arg234=) c.825T>C (p.Arg275=) c.777T>C (p.Arg259=) c.801T>C (p.Arg267=) c.414T>C (p.Arg138=) | gnomAD v4 |
7 | g.128398456A>T | CA457528210 | IMPDH1 | c.924T>A (p.Arg308=) n.907T>A c.1032T>A (p.Arg344=) c.664T>A c.1002T>A (p.Arg334=) c.933T>A (p.Arg311=) c.797T>A c.774T>A (p.Arg258=) c.762T>A (p.Arg254=) c.907T>A (n.907T>A) c.702T>A (p.Arg234=) c.825T>A (p.Arg275=) c.777T>A (p.Arg259=) c.801T>A (p.Arg267=) c.414T>A (p.Arg138=) | |
7 | g.128398457C>A | CA369168205 | IMPDH1 | c.923G>T (p.Arg308Leu) n.906G>T c.1031G>T (p.Arg344Leu) c.663G>T c.1001G>T (p.Arg334Leu) c.932G>T (p.Arg311Leu) c.796G>T c.773G>T (p.Arg258Leu) c.761G>T (p.Arg254Leu) c.906G>T (n.906G>T) c.701G>T (p.Arg234Leu) c.824G>T (p.Arg275Leu) c.776G>T (p.Arg259Leu) c.800G>T (p.Arg267Leu) c.413G>T (p.Arg138Leu) | |
7 | g.128398457C= | CA1742366523 | IMPDH1 | c.923G= (p.Arg308=) n.906G= c.1031G= (p.Arg344=) c.663G= c.1001G= (p.Arg334=) c.932G= (p.Arg311=) c.796G= c.773G= (p.Arg258=) c.761G= (p.Arg254=) c.906G= (n.906G=) c.701G= (p.Arg234=) c.824G= (p.Arg275=) c.776G= (p.Arg259=) c.800G= (p.Arg267=) c.413G= (p.Arg138=) | |
7 | g.128398457C>G | CA369168209 | IMPDH1 | c.923G>C (p.Arg308Pro) n.906G>C c.1031G>C (p.Arg344Pro) c.663G>C c.1001G>C (p.Arg334Pro) c.932G>C (p.Arg311Pro) c.796G>C c.773G>C (p.Arg258Pro) c.761G>C (p.Arg254Pro) c.906G>C (n.906G>C) c.701G>C (p.Arg234Pro) c.824G>C (p.Arg275Pro) c.776G>C (p.Arg259Pro) c.800G>C (p.Arg267Pro) c.413G>C (p.Arg138Pro) | |
7 | g.128398457C>T | CA369168218 | IMPDH1 | c.923G>A (p.Arg308His) n.906G>A c.1031G>A (p.Arg344His) c.663G>A c.1001G>A (p.Arg334His) c.932G>A (p.Arg311His) c.796G>A c.773G>A (p.Arg258His) c.761G>A (p.Arg254His) c.906G>A (n.906G>A) c.701G>A (p.Arg234His) c.824G>A (p.Arg275His) c.776G>A (p.Arg259His) c.800G>A (p.Arg267His) c.413G>A (p.Arg138His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.128398458G>A | CA4470976 | IMPDH1 | c.922C>T (p.Arg308Cys) n.905C>T c.1030C>T (p.Arg344Cys) c.662C>T c.1000C>T (p.Arg334Cys) c.931C>T (p.Arg311Cys) c.795C>T c.772C>T (p.Arg258Cys) c.760C>T (p.Arg254Cys) c.905C>T (n.905C>T) c.700C>T (p.Arg234Cys) c.823C>T (p.Arg275Cys) c.775C>T (p.Arg259Cys) c.799C>T (p.Arg267Cys) c.412C>T (p.Arg138Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398458G>C | CA369168245 | IMPDH1 | c.922C>G (p.Arg308Gly) n.905C>G c.1030C>G (p.Arg344Gly) c.662C>G c.1000C>G (p.Arg334Gly) c.931C>G (p.Arg311Gly) c.795C>G c.772C>G (p.Arg258Gly) c.760C>G (p.Arg254Gly) c.905C>G (n.905C>G) c.700C>G (p.Arg234Gly) c.823C>G (p.Arg275Gly) c.775C>G (p.Arg259Gly) c.799C>G (p.Arg267Gly) c.412C>G (p.Arg138Gly) | |
7 | g.128398458G= | CA1742366530 | IMPDH1 | c.922C= (p.Arg308=) n.905C= c.1030C= (p.Arg344=) c.662C= c.1000C= (p.Arg334=) c.931C= (p.Arg311=) c.795C= c.772C= (p.Arg258=) c.760C= (p.Arg254=) c.905C= (n.905C=) c.700C= (p.Arg234=) c.823C= (p.Arg275=) c.775C= (p.Arg259=) c.799C= (p.Arg267=) c.412C= (p.Arg138=) | |
7 | g.128398458G>T | CA369168246 | IMPDH1 | c.922C>A (p.Arg308Ser) n.905C>A c.1030C>A (p.Arg344Ser) c.662C>A c.1000C>A (p.Arg334Ser) c.931C>A (p.Arg311Ser) c.795C>A c.772C>A (p.Arg258Ser) c.760C>A (p.Arg254Ser) c.905C>A (n.905C>A) c.700C>A (p.Arg234Ser) c.823C>A (p.Arg275Ser) c.775C>A (p.Arg259Ser) c.799C>A (p.Arg267Ser) c.412C>A (p.Arg138Ser) | |
7 | g.128398459G>A | CA457528212 | IMPDH1 | c.921C>T (p.Tyr307=) n.904C>T c.1029C>T (p.Tyr343=) c.661C>T c.999C>T (p.Tyr333=) c.930C>T (p.Tyr310=) c.794C>T c.771C>T (p.Tyr257=) c.759C>T (p.Tyr253=) c.904C>T (n.904C>T) c.699C>T (p.Tyr233=) c.822C>T (p.Tyr274=) c.774C>T (p.Tyr258=) c.798C>T (p.Tyr266=) c.411C>T (p.Tyr137=) | gnomAD v4 COSMIC |
7 | g.128398459G>C | CA369168250 | IMPDH1 | c.921C>G (p.Tyr307Ter) n.904C>G c.1029C>G (p.Tyr343Ter) c.661C>G c.999C>G (p.Tyr333Ter) c.930C>G (p.Tyr310Ter) c.794C>G c.771C>G (p.Tyr257Ter) c.759C>G (p.Tyr253Ter) c.904C>G (n.904C>G) c.699C>G (p.Tyr233Ter) c.822C>G (p.Tyr274Ter) c.774C>G (p.Tyr258Ter) c.798C>G (p.Tyr266Ter) c.411C>G (p.Tyr137Ter) | |
7 | g.128398459G>T | CA369168261 | IMPDH1 | c.921C>A (p.Tyr307Ter) n.904C>A c.1029C>A (p.Tyr343Ter) c.661C>A c.999C>A (p.Tyr333Ter) c.930C>A (p.Tyr310Ter) c.794C>A c.771C>A (p.Tyr257Ter) c.759C>A (p.Tyr253Ter) c.904C>A (n.904C>A) c.699C>A (p.Tyr233Ter) c.822C>A (p.Tyr274Ter) c.774C>A (p.Tyr258Ter) c.798C>A (p.Tyr266Ter) c.411C>A (p.Tyr137Ter) | |
7 | g.128398460T>A | CA369168277 | IMPDH1 | c.920A>T (p.Tyr307Phe) n.903A>T c.1028A>T (p.Tyr343Phe) c.660A>T c.998A>T (p.Tyr333Phe) c.929A>T (p.Tyr310Phe) c.793A>T c.770A>T (p.Tyr257Phe) c.758A>T (p.Tyr253Phe) c.903A>T (n.903A>T) c.698A>T (p.Tyr233Phe) c.821A>T (p.Tyr274Phe) c.773A>T (p.Tyr258Phe) c.797A>T (p.Tyr266Phe) c.410A>T (p.Tyr137Phe) | |
7 | g.128398460T>C | CA369168278 | IMPDH1 | c.920A>G (p.Tyr307Cys) n.903A>G c.1028A>G (p.Tyr343Cys) c.660A>G c.998A>G (p.Tyr333Cys) c.929A>G (p.Tyr310Cys) c.793A>G c.770A>G (p.Tyr257Cys) c.758A>G (p.Tyr253Cys) c.903A>G (n.903A>G) c.698A>G (p.Tyr233Cys) c.821A>G (p.Tyr274Cys) c.773A>G (p.Tyr258Cys) c.797A>G (p.Tyr266Cys) c.410A>G (p.Tyr137Cys) | gnomAD v4 |
7 | g.128398460T>G | CA369168266 | IMPDH1 | c.920A>C (p.Tyr307Ser) n.903A>C c.1028A>C (p.Tyr343Ser) c.660A>C c.998A>C (p.Tyr333Ser) c.929A>C (p.Tyr310Ser) c.793A>C c.770A>C (p.Tyr257Ser) c.758A>C (p.Tyr253Ser) c.903A>C (n.903A>C) c.698A>C (p.Tyr233Ser) c.821A>C (p.Tyr274Ser) c.773A>C (p.Tyr258Ser) c.797A>C (p.Tyr266Ser) c.410A>C (p.Tyr137Ser) | |
7 | g.128398461A= | CA1742366539 | IMPDH1 | c.919T= (p.Tyr307=) n.902T= c.1027T= (p.Tyr343=) c.659T= c.997T= (p.Tyr333=) c.928T= (p.Tyr310=) c.792T= c.769T= (p.Tyr257=) c.757T= (p.Tyr253=) c.902T= (n.902T=) c.697T= (p.Tyr233=) c.820T= (p.Tyr274=) c.772T= (p.Tyr258=) c.796T= (p.Tyr266=) c.409T= (p.Tyr137=) | |
7 | g.128398461A>C | CA369168299 | IMPDH1 | c.919T>G (p.Tyr307Asp) n.902T>G c.1027T>G (p.Tyr343Asp) c.659T>G c.997T>G (p.Tyr333Asp) c.928T>G (p.Tyr310Asp) c.792T>G c.769T>G (p.Tyr257Asp) c.757T>G (p.Tyr253Asp) c.902T>G (n.902T>G) c.697T>G (p.Tyr233Asp) c.820T>G (p.Tyr274Asp) c.772T>G (p.Tyr258Asp) c.796T>G (p.Tyr266Asp) c.409T>G (p.Tyr137Asp) | |
7 | g.128398461A>G | CA369168280 | IMPDH1 | c.919T>C (p.Tyr307His) n.902T>C c.1027T>C (p.Tyr343His) c.659T>C c.997T>C (p.Tyr333His) c.928T>C (p.Tyr310His) c.792T>C c.769T>C (p.Tyr257His) c.757T>C (p.Tyr253His) c.902T>C (n.902T>C) c.697T>C (p.Tyr233His) c.820T>C (p.Tyr274His) c.772T>C (p.Tyr258His) c.796T>C (p.Tyr266His) c.409T>C (p.Tyr137His) | dbSNP |
7 | g.128398461A>T | CA369168284 | IMPDH1 | c.919T>A (p.Tyr307Asn) n.902T>A c.1027T>A (p.Tyr343Asn) c.659T>A c.997T>A (p.Tyr333Asn) c.928T>A (p.Tyr310Asn) c.792T>A c.769T>A (p.Tyr257Asn) c.757T>A (p.Tyr253Asn) c.902T>A (n.902T>A) c.697T>A (p.Tyr233Asn) c.820T>A (p.Tyr274Asn) c.772T>A (p.Tyr258Asn) c.796T>A (p.Tyr266Asn) c.409T>A (p.Tyr137Asn) | |
7 | g.128398462T>A | CA369168308 | IMPDH1 | c.918A>T (p.Lys306Asn) n.901A>T c.1026A>T (p.Lys342Asn) c.658A>T c.996A>T (p.Lys332Asn) c.927A>T (p.Lys309Asn) c.791A>T c.768A>T (p.Lys256Asn) c.756A>T (p.Lys252Asn) c.901A>T (n.901A>T) c.696A>T (p.Lys232Asn) c.819A>T (p.Lys273Asn) c.771A>T (p.Lys257Asn) c.795A>T (p.Lys265Asn) c.408A>T (p.Lys136Asn) | |
7 | g.128398462T>C | CA457528217 | IMPDH1 | c.918A>G (p.Lys306=) n.901A>G c.1026A>G (p.Lys342=) c.658A>G c.996A>G (p.Lys332=) c.927A>G (p.Lys309=) c.791A>G c.768A>G (p.Lys256=) c.756A>G (p.Lys252=) c.901A>G (n.901A>G) c.696A>G (p.Lys232=) c.819A>G (p.Lys273=) c.771A>G (p.Lys257=) c.795A>G (p.Lys265=) c.408A>G (p.Lys136=) | |
7 | g.128398462T>G | CA369168315 | IMPDH1 | c.918A>C (p.Lys306Asn) n.901A>C c.1026A>C (p.Lys342Asn) c.658A>C c.996A>C (p.Lys332Asn) c.927A>C (p.Lys309Asn) c.791A>C c.768A>C (p.Lys256Asn) c.756A>C (p.Lys252Asn) c.901A>C (n.901A>C) c.696A>C (p.Lys232Asn) c.819A>C (p.Lys273Asn) c.771A>C (p.Lys257Asn) c.795A>C (p.Lys265Asn) c.408A>C (p.Lys136Asn) | |
7 | g.128398463T>A | CA369168325 | IMPDH1 | c.917A>T (p.Lys306Ile) n.900A>T c.1025A>T (p.Lys342Ile) c.657A>T c.995A>T (p.Lys332Ile) c.926A>T (p.Lys309Ile) c.790A>T c.767A>T (p.Lys256Ile) c.755A>T (p.Lys252Ile) c.900A>T (n.900A>T) c.695A>T (p.Lys232Ile) c.818A>T (p.Lys273Ile) c.770A>T (p.Lys257Ile) c.794A>T (p.Lys265Ile) c.407A>T (p.Lys136Ile) | |
7 | g.128398463T>C | CA369168327 | IMPDH1 | c.917A>G (p.Lys306Arg) n.900A>G c.1025A>G (p.Lys342Arg) c.657A>G c.995A>G (p.Lys332Arg) c.926A>G (p.Lys309Arg) c.790A>G c.767A>G (p.Lys256Arg) c.755A>G (p.Lys252Arg) c.900A>G (n.900A>G) c.695A>G (p.Lys232Arg) c.818A>G (p.Lys273Arg) c.770A>G (p.Lys257Arg) c.794A>G (p.Lys265Arg) c.407A>G (p.Lys136Arg) | gnomAD v4 |
7 | g.128398463T>G | CA369168330 | IMPDH1 | c.917A>C (p.Lys306Thr) n.900A>C c.1025A>C (p.Lys342Thr) c.657A>C c.995A>C (p.Lys332Thr) c.926A>C (p.Lys309Thr) c.790A>C c.767A>C (p.Lys256Thr) c.755A>C (p.Lys252Thr) c.900A>C (n.900A>C) c.695A>C (p.Lys232Thr) c.818A>C (p.Lys273Thr) c.770A>C (p.Lys257Thr) c.794A>C (p.Lys265Thr) c.407A>C (p.Lys136Thr) | |
7 | g.128398464T>A | CA369168334 | IMPDH1 | c.916A>T (p.Lys306Ter) n.899A>T c.1024A>T (p.Lys342Ter) c.656A>T c.994A>T (p.Lys332Ter) c.925A>T (p.Lys309Ter) c.789A>T c.766A>T (p.Lys256Ter) c.754A>T (p.Lys252Ter) c.899A>T (n.899A>T) c.694A>T (p.Lys232Ter) c.817A>T (p.Lys273Ter) c.769A>T (p.Lys257Ter) c.793A>T (p.Lys265Ter) c.406A>T (p.Lys136Ter) | |
7 | g.128398464T>C | CA369168345 | IMPDH1 | c.916A>G (p.Lys306Glu) n.899A>G c.1024A>G (p.Lys342Glu) c.656A>G c.994A>G (p.Lys332Glu) c.925A>G (p.Lys309Glu) c.789A>G c.766A>G (p.Lys256Glu) c.754A>G (p.Lys252Glu) c.899A>G (n.899A>G) c.694A>G (p.Lys232Glu) c.817A>G (p.Lys273Glu) c.769A>G (p.Lys257Glu) c.793A>G (p.Lys265Glu) c.406A>G (p.Lys136Glu) | gnomAD v4 |
7 | g.128398464T>G | CA369168355 | IMPDH1 | c.916A>C (p.Lys306Gln) n.899A>C c.1024A>C (p.Lys342Gln) c.656A>C c.994A>C (p.Lys332Gln) c.925A>C (p.Lys309Gln) c.789A>C c.766A>C (p.Lys256Gln) c.754A>C (p.Lys252Gln) c.899A>C (n.899A>C) c.694A>C (p.Lys232Gln) c.817A>C (p.Lys273Gln) c.769A>C (p.Lys257Gln) c.793A>C (p.Lys265Gln) c.406A>C (p.Lys136Gln) | |
7 | g.128398465G>A | CA457528219 | IMPDH1 | c.915C>T (p.Asp305=) n.898C>T c.1023C>T (p.Asp341=) c.655C>T c.993C>T (p.Asp331=) c.924C>T (p.Asp308=) c.788C>T c.765C>T (p.Asp255=) c.753C>T (p.Asp251=) c.898C>T (n.898C>T) c.693C>T (p.Asp231=) c.816C>T (p.Asp272=) c.768C>T (p.Asp256=) c.792C>T (p.Asp264=) c.405C>T (p.Asp135=) | |
7 | g.128398465G>C | CA369168369 | IMPDH1 | c.915C>G (p.Asp305Glu) n.898C>G c.1023C>G (p.Asp341Glu) c.655C>G c.993C>G (p.Asp331Glu) c.924C>G (p.Asp308Glu) c.788C>G c.765C>G (p.Asp255Glu) c.753C>G (p.Asp251Glu) c.898C>G (n.898C>G) c.693C>G (p.Asp231Glu) c.816C>G (p.Asp272Glu) c.768C>G (p.Asp256Glu) c.792C>G (p.Asp264Glu) c.405C>G (p.Asp135Glu) | |
7 | g.128398465G>T | CA369168375 | IMPDH1 | c.915C>A (p.Asp305Glu) n.898C>A c.1023C>A (p.Asp341Glu) c.655C>A c.993C>A (p.Asp331Glu) c.924C>A (p.Asp308Glu) c.788C>A c.765C>A (p.Asp255Glu) c.753C>A (p.Asp251Glu) c.898C>A (n.898C>A) c.693C>A (p.Asp231Glu) c.816C>A (p.Asp272Glu) c.768C>A (p.Asp256Glu) c.792C>A (p.Asp264Glu) c.405C>A (p.Asp135Glu) | |
7 | g.128398466T>A | CA369168391 | IMPDH1 | c.914A>T (p.Asp305Val) n.897A>T c.1022A>T (p.Asp341Val) c.654A>T c.992A>T (p.Asp331Val) c.923A>T (p.Asp308Val) c.787A>T c.764A>T (p.Asp255Val) c.752A>T (p.Asp251Val) c.897A>T (n.897A>T) c.692A>T (p.Asp231Val) c.815A>T (p.Asp272Val) c.767A>T (p.Asp256Val) c.791A>T (p.Asp264Val) c.404A>T (p.Asp135Val) | |
7 | g.128398466T>C | CA369168390 | IMPDH1 | c.914A>G (p.Asp305Gly) n.897A>G c.1022A>G (p.Asp341Gly) c.654A>G c.992A>G (p.Asp331Gly) c.923A>G (p.Asp308Gly) c.787A>G c.764A>G (p.Asp255Gly) c.752A>G (p.Asp251Gly) c.897A>G (n.897A>G) c.692A>G (p.Asp231Gly) c.815A>G (p.Asp272Gly) c.767A>G (p.Asp256Gly) c.791A>G (p.Asp264Gly) c.404A>G (p.Asp135Gly) | COSMIC |
7 | g.128398466T>G | CA369168381 | IMPDH1 | c.914A>C (p.Asp305Ala) n.897A>C c.1022A>C (p.Asp341Ala) c.654A>C c.992A>C (p.Asp331Ala) c.923A>C (p.Asp308Ala) c.787A>C c.764A>C (p.Asp255Ala) c.752A>C (p.Asp251Ala) c.897A>C (n.897A>C) c.692A>C (p.Asp231Ala) c.815A>C (p.Asp272Ala) c.767A>C (p.Asp256Ala) c.791A>C (p.Asp264Ala) c.404A>C (p.Asp135Ala) | |
7 | g.128398467C>A | CA369168400 | IMPDH1 | c.913G>T (p.Asp305Tyr) n.896G>T c.1021G>T (p.Asp341Tyr) c.653G>T c.991G>T (p.Asp331Tyr) c.922G>T (p.Asp308Tyr) c.786G>T c.763G>T (p.Asp255Tyr) c.751G>T (p.Asp251Tyr) c.896G>T (n.896G>T) c.691G>T (p.Asp231Tyr) c.814G>T (p.Asp272Tyr) c.766G>T (p.Asp256Tyr) c.790G>T (p.Asp264Tyr) c.403G>T (p.Asp135Tyr) | gnomAD v4 |
7 | g.128398467C>G | CA369168404 | IMPDH1 | c.913G>C (p.Asp305His) n.896G>C c.1021G>C (p.Asp341His) c.653G>C c.991G>C (p.Asp331His) c.922G>C (p.Asp308His) c.786G>C c.763G>C (p.Asp255His) c.751G>C (p.Asp251His) c.896G>C (n.896G>C) c.691G>C (p.Asp231His) c.814G>C (p.Asp272His) c.766G>C (p.Asp256His) c.790G>C (p.Asp264His) c.403G>C (p.Asp135His) | |
7 | g.128398467C>T | CA369168412 | IMPDH1 | c.913G>A (p.Asp305Asn) n.896G>A c.1021G>A (p.Asp341Asn) c.653G>A c.991G>A (p.Asp331Asn) c.922G>A (p.Asp308Asn) c.786G>A c.763G>A (p.Asp255Asn) c.751G>A (p.Asp251Asn) c.896G>A (n.896G>A) c.691G>A (p.Asp231Asn) c.814G>A (p.Asp272Asn) c.766G>A (p.Asp256Asn) c.790G>A (p.Asp264Asn) c.403G>A (p.Asp135Asn) | COSMIC |
7 | g.128398468A= | CA1742366550 | IMPDH1 | c.912T= (p.Asp304=) n.895T= c.1020T= (p.Asp340=) c.652T= c.990T= (p.Asp330=) c.921T= (p.Asp307=) c.785T= c.762T= (p.Asp254=) c.750T= (p.Asp250=) c.895T= (n.895T=) c.690T= (p.Asp230=) c.813T= (p.Asp271=) c.765T= (p.Asp255=) c.789T= (p.Asp263=) c.402T= (p.Asp134=) | |
7 | g.128398468A>C | CA369168414 | IMPDH1 | c.912T>G (p.Asp304Glu) n.895T>G c.1020T>G (p.Asp340Glu) c.652T>G c.990T>G (p.Asp330Glu) c.921T>G (p.Asp307Glu) c.785T>G c.762T>G (p.Asp254Glu) c.750T>G (p.Asp250Glu) c.895T>G (n.895T>G) c.690T>G (p.Asp230Glu) c.813T>G (p.Asp271Glu) c.765T>G (p.Asp255Glu) c.789T>G (p.Asp263Glu) c.402T>G (p.Asp134Glu) | |
7 | g.128398468A>G | CA457528223 | IMPDH1 | c.912T>C (p.Asp304=) n.895T>C c.1020T>C (p.Asp340=) c.652T>C c.990T>C (p.Asp330=) c.921T>C (p.Asp307=) c.785T>C c.762T>C (p.Asp254=) c.750T>C (p.Asp250=) c.895T>C (n.895T>C) c.690T>C (p.Asp230=) c.813T>C (p.Asp271=) c.765T>C (p.Asp255=) c.789T>C (p.Asp263=) c.402T>C (p.Asp134=) | dbSNP |
7 | g.128398468A>T | CA369168415 | IMPDH1 | c.912T>A (p.Asp304Glu) n.895T>A c.1020T>A (p.Asp340Glu) c.652T>A c.990T>A (p.Asp330Glu) c.921T>A (p.Asp307Glu) c.785T>A c.762T>A (p.Asp254Glu) c.750T>A (p.Asp250Glu) c.895T>A (n.895T>A) c.690T>A (p.Asp230Glu) c.813T>A (p.Asp271Glu) c.765T>A (p.Asp255Glu) c.789T>A (p.Asp263Glu) c.402T>A (p.Asp134Glu) | |
7 | g.128398469T>A | CA369168417 | IMPDH1 | c.911A>T (p.Asp304Val) n.894A>T c.1019A>T (p.Asp340Val) c.651A>T c.989A>T (p.Asp330Val) c.920A>T (p.Asp307Val) c.784A>T c.761A>T (p.Asp254Val) c.749A>T (p.Asp250Val) c.894A>T (n.894A>T) c.689A>T (p.Asp230Val) c.812A>T (p.Asp271Val) c.764A>T (p.Asp255Val) c.788A>T (p.Asp263Val) c.401A>T (p.Asp134Val) | |
7 | g.128398469T>C | CA369168419 | IMPDH1 | c.911A>G (p.Asp304Gly) n.894A>G c.1019A>G (p.Asp340Gly) c.651A>G c.989A>G (p.Asp330Gly) c.920A>G (p.Asp307Gly) c.784A>G c.761A>G (p.Asp254Gly) c.749A>G (p.Asp250Gly) c.894A>G (n.894A>G) c.689A>G (p.Asp230Gly) c.812A>G (p.Asp271Gly) c.764A>G (p.Asp255Gly) c.788A>G (p.Asp263Gly) c.401A>G (p.Asp134Gly) | |
7 | g.128398469T>G | CA369168421 | IMPDH1 | c.911A>C (p.Asp304Ala) n.894A>C c.1019A>C (p.Asp340Ala) c.651A>C c.989A>C (p.Asp330Ala) c.920A>C (p.Asp307Ala) c.784A>C c.761A>C (p.Asp254Ala) c.749A>C (p.Asp250Ala) c.894A>C (n.894A>C) c.689A>C (p.Asp230Ala) c.812A>C (p.Asp271Ala) c.764A>C (p.Asp255Ala) c.788A>C (p.Asp263Ala) c.401A>C (p.Asp134Ala) | |
7 | g.128398470C>A | CA369168422 | IMPDH1 | c.910G>T (p.Asp304Tyr) n.893G>T c.1018G>T (p.Asp340Tyr) c.650G>T c.988G>T (p.Asp330Tyr) c.919G>T (p.Asp307Tyr) c.783G>T c.760G>T (p.Asp254Tyr) c.748G>T (p.Asp250Tyr) c.893G>T (n.893G>T) c.688G>T (p.Asp230Tyr) c.811G>T (p.Asp271Tyr) c.763G>T (p.Asp255Tyr) c.787G>T (p.Asp263Tyr) c.400G>T (p.Asp134Tyr) | |
7 | g.128398470C= | CA1742366553 | IMPDH1 | c.910G= (p.Asp304=) n.893G= c.1018G= (p.Asp340=) c.650G= c.988G= (p.Asp330=) c.919G= (p.Asp307=) c.783G= c.760G= (p.Asp254=) c.748G= (p.Asp250=) c.893G= (n.893G=) c.688G= (p.Asp230=) c.811G= (p.Asp271=) c.763G= (p.Asp255=) c.787G= (p.Asp263=) c.400G= (p.Asp134=) | |
7 | g.128398470C>G | CA369168426 | IMPDH1 | c.910G>C (p.Asp304His) n.893G>C c.1018G>C (p.Asp340His) c.650G>C c.988G>C (p.Asp330His) c.919G>C (p.Asp307His) c.783G>C c.760G>C (p.Asp254His) c.748G>C (p.Asp250His) c.893G>C (n.893G>C) c.688G>C (p.Asp230His) c.811G>C (p.Asp271His) c.763G>C (p.Asp255His) c.787G>C (p.Asp263His) c.400G>C (p.Asp134His) | |
7 | g.128398470C>T | CA369168431 | IMPDH1 | c.910G>A (p.Asp304Asn) n.893G>A c.1018G>A (p.Asp340Asn) c.650G>A c.988G>A (p.Asp330Asn) c.919G>A (p.Asp307Asn) c.783G>A c.760G>A (p.Asp254Asn) c.748G>A (p.Asp250Asn) c.893G>A (n.893G>A) c.688G>A (p.Asp230Asn) c.811G>A (p.Asp271Asn) c.763G>A (p.Asp255Asn) c.787G>A (p.Asp263Asn) c.400G>A (p.Asp134Asn) | dbSNP |
7 | g.128398471C>A | CA369168435 | IMPDH1 | c.909G>T (p.Glu303Asp) n.892G>T c.1017G>T (p.Glu339Asp) c.649G>T c.987G>T (p.Glu329Asp) c.918G>T (p.Glu306Asp) c.782G>T c.759G>T (p.Glu253Asp) c.747G>T (p.Glu249Asp) c.892G>T (n.892G>T) c.687G>T (p.Glu229Asp) c.810G>T (p.Glu270Asp) c.762G>T (p.Glu254Asp) c.786G>T (p.Glu262Asp) c.399G>T (p.Glu133Asp) | |
7 | g.128398471C= | CA1742366556 | IMPDH1 | c.909G= (p.Glu303=) n.892G= c.1017G= (p.Glu339=) c.649G= c.987G= (p.Glu329=) c.918G= (p.Glu306=) c.782G= c.759G= (p.Glu253=) c.747G= (p.Glu249=) c.892G= (n.892G=) c.687G= (p.Glu229=) c.810G= (p.Glu270=) c.762G= (p.Glu254=) c.786G= (p.Glu262=) c.399G= (p.Glu133=) | |
7 | g.128398471C>G | CA369168437 | IMPDH1 | c.909G>C (p.Glu303Asp) n.892G>C c.1017G>C (p.Glu339Asp) c.649G>C c.987G>C (p.Glu329Asp) c.918G>C (p.Glu306Asp) c.782G>C c.759G>C (p.Glu253Asp) c.747G>C (p.Glu249Asp) c.892G>C (n.892G>C) c.687G>C (p.Glu229Asp) c.810G>C (p.Glu270Asp) c.762G>C (p.Glu254Asp) c.786G>C (p.Glu262Asp) c.399G>C (p.Glu133Asp) | |
7 | g.128398471C>T | CA457528225 | IMPDH1 | c.909G>A (p.Glu303=) n.892G>A c.1017G>A (p.Glu339=) c.649G>A c.987G>A (p.Glu329=) c.918G>A (p.Glu306=) c.782G>A c.759G>A (p.Glu253=) c.747G>A (p.Glu249=) c.892G>A (n.892G>A) c.687G>A (p.Glu229=) c.810G>A (p.Glu270=) c.762G>A (p.Glu254=) c.786G>A (p.Glu262=) c.399G>A (p.Glu133=) | dbSNP gnomAD v2 |
7 | g.128398472T>A | CA369168447 | IMPDH1 | c.908A>T (p.Glu303Val) n.891A>T c.1016A>T (p.Glu339Val) c.648A>T c.986A>T (p.Glu329Val) c.917A>T (p.Glu306Val) c.781A>T c.758A>T (p.Glu253Val) c.746A>T (p.Glu249Val) c.891A>T (n.891A>T) c.686A>T (p.Glu229Val) c.809A>T (p.Glu270Val) c.761A>T (p.Glu254Val) c.785A>T (p.Glu262Val) c.398A>T (p.Glu133Val) | |
7 | g.128398472T>C | CA369168442 | IMPDH1 | c.908A>G (p.Glu303Gly) n.891A>G c.1016A>G (p.Glu339Gly) c.648A>G c.986A>G (p.Glu329Gly) c.917A>G (p.Glu306Gly) c.781A>G c.758A>G (p.Glu253Gly) c.746A>G (p.Glu249Gly) c.891A>G (n.891A>G) c.686A>G (p.Glu229Gly) c.809A>G (p.Glu270Gly) c.761A>G (p.Glu254Gly) c.785A>G (p.Glu262Gly) c.398A>G (p.Glu133Gly) | |
7 | g.128398472T>G | CA369168440 | IMPDH1 | c.908A>C (p.Glu303Ala) n.891A>C c.1016A>C (p.Glu339Ala) c.648A>C c.986A>C (p.Glu329Ala) c.917A>C (p.Glu306Ala) c.781A>C c.758A>C (p.Glu253Ala) c.746A>C (p.Glu249Ala) c.891A>C (n.891A>C) c.686A>C (p.Glu229Ala) c.809A>C (p.Glu270Ala) c.761A>C (p.Glu254Ala) c.785A>C (p.Glu262Ala) c.398A>C (p.Glu133Ala) | |
7 | g.128398473C>A | CA369168451 | IMPDH1 | c.907G>T (p.Glu303Ter) n.890G>T c.1015G>T (p.Glu339Ter) c.647G>T c.985G>T (p.Glu329Ter) c.916G>T (p.Glu306Ter) c.780G>T c.757G>T (p.Glu253Ter) c.745G>T (p.Glu249Ter) c.890G>T (n.890G>T) c.685G>T (p.Glu229Ter) c.808G>T (p.Glu270Ter) c.760G>T (p.Glu254Ter) c.784G>T (p.Glu262Ter) c.397G>T (p.Glu133Ter) | |
7 | g.128398473C= | CA1742366563 | IMPDH1 | c.907G= (p.Glu303=) n.890G= c.1015G= (p.Glu339=) c.647G= c.985G= (p.Glu329=) c.916G= (p.Glu306=) c.780G= c.757G= (p.Glu253=) c.745G= (p.Glu249=) c.890G= (n.890G=) c.685G= (p.Glu229=) c.808G= (p.Glu270=) c.760G= (p.Glu254=) c.784G= (p.Glu262=) c.397G= (p.Glu133=) | |
7 | g.128398473C>G | CA369168448 | IMPDH1 | c.907G>C (p.Glu303Gln) n.890G>C c.1015G>C (p.Glu339Gln) c.647G>C c.985G>C (p.Glu329Gln) c.916G>C (p.Glu306Gln) c.780G>C c.757G>C (p.Glu253Gln) c.745G>C (p.Glu249Gln) c.890G>C (n.890G>C) c.685G>C (p.Glu229Gln) c.808G>C (p.Glu270Gln) c.760G>C (p.Glu254Gln) c.784G>C (p.Glu262Gln) c.397G>C (p.Glu133Gln) | dbSNP |
7 | g.128398473C>T | CA369168449 | IMPDH1 | c.907G>A (p.Glu303Lys) n.890G>A c.1015G>A (p.Glu339Lys) c.647G>A c.985G>A (p.Glu329Lys) c.916G>A (p.Glu306Lys) c.780G>A c.757G>A (p.Glu253Lys) c.745G>A (p.Glu249Lys) c.890G>A (n.890G>A) c.685G>A (p.Glu229Lys) c.808G>A (p.Glu270Lys) c.760G>A (p.Glu254Lys) c.784G>A (p.Glu262Lys) c.397G>A (p.Glu133Lys) | |
7 | g.128398474A>C | CA457528229 | IMPDH1 | c.906T>G (p.Arg302=) n.889T>G c.1014T>G (p.Arg338=) c.646T>G c.984T>G (p.Arg328=) c.915T>G (p.Arg305=) c.779T>G c.756T>G (p.Arg252=) c.744T>G (p.Arg248=) c.889T>G (n.889T>G) c.684T>G (p.Arg228=) c.807T>G (p.Arg269=) c.759T>G (p.Arg253=) c.783T>G (p.Arg261=) c.396T>G (p.Arg132=) | |
7 | g.128398474A>G | CA457528230 | IMPDH1 | c.906T>C (p.Arg302=) n.889T>C c.1014T>C (p.Arg338=) c.646T>C c.984T>C (p.Arg328=) c.915T>C (p.Arg305=) c.779T>C c.756T>C (p.Arg252=) c.744T>C (p.Arg248=) c.889T>C (n.889T>C) c.684T>C (p.Arg228=) c.807T>C (p.Arg269=) c.759T>C (p.Arg253=) c.783T>C (p.Arg261=) c.396T>C (p.Arg132=) | |
7 | g.128398474A>T | CA457528231 | IMPDH1 | c.906T>A (p.Arg302=) n.889T>A c.1014T>A (p.Arg338=) c.646T>A c.984T>A (p.Arg328=) c.915T>A (p.Arg305=) c.779T>A c.756T>A (p.Arg252=) c.744T>A (p.Arg248=) c.889T>A (n.889T>A) c.684T>A (p.Arg228=) c.807T>A (p.Arg269=) c.759T>A (p.Arg253=) c.783T>A (p.Arg261=) c.396T>A (p.Arg132=) | |
7 | g.128398475C>A | CA4470977 | IMPDH1 | c.905G>T (p.Arg302Leu) n.888G>T c.1013G>T (p.Arg338Leu) c.645G>T c.983G>T (p.Arg328Leu) c.914G>T (p.Arg305Leu) c.778G>T c.755G>T (p.Arg252Leu) c.743G>T (p.Arg248Leu) c.888G>T (n.888G>T) c.683G>T (p.Arg228Leu) c.806G>T (p.Arg269Leu) c.758G>T (p.Arg253Leu) c.782G>T (p.Arg261Leu) c.395G>T (p.Arg132Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128398475C= | CA1742327975 | IMPDH1 | c.905G= (p.Arg302=) n.888G= c.1013G= (p.Arg338=) c.645G= c.983G= (p.Arg328=) c.914G= (p.Arg305=) c.778G= c.755G= (p.Arg252=) c.743G= (p.Arg248=) c.888G= (n.888G=) c.683G= (p.Arg228=) c.806G= (p.Arg269=) c.758G= (p.Arg253=) c.782G= (p.Arg261=) c.395G= (p.Arg132=) | |
7 | g.128398475C>G | CA369168469 | IMPDH1 | c.905G>C (p.Arg302Pro) n.888G>C c.1013G>C (p.Arg338Pro) c.645G>C c.983G>C (p.Arg328Pro) c.914G>C (p.Arg305Pro) c.778G>C c.755G>C (p.Arg252Pro) c.743G>C (p.Arg248Pro) c.888G>C (n.888G>C) c.683G>C (p.Arg228Pro) c.806G>C (p.Arg269Pro) c.758G>C (p.Arg253Pro) c.782G>C (p.Arg261Pro) c.395G>C (p.Arg132Pro) | gnomAD v4 |
7 | g.128398475C>T | CA4470978 | IMPDH1 | c.905G>A (p.Arg302His) n.888G>A c.1013G>A (p.Arg338His) c.645G>A c.983G>A (p.Arg328His) c.914G>A (p.Arg305His) c.778G>A c.755G>A (p.Arg252His) c.743G>A (p.Arg248His) c.888G>A (n.888G>A) c.683G>A (p.Arg228His) c.806G>A (p.Arg269His) c.758G>A (p.Arg253His) c.782G>A (p.Arg261His) c.395G>A (p.Arg132His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398476G>A | CA4470979 | IMPDH1 | c.904C>T (p.Arg302Cys) n.887C>T c.1012C>T (p.Arg338Cys) c.644C>T c.982C>T (p.Arg328Cys) c.913C>T (p.Arg305Cys) c.777C>T c.754C>T (p.Arg252Cys) c.742C>T (p.Arg248Cys) c.887C>T (n.887C>T) c.682C>T (p.Arg228Cys) c.805C>T (p.Arg269Cys) c.757C>T (p.Arg253Cys) c.781C>T (p.Arg261Cys) c.394C>T (p.Arg132Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398476G>C | CA369168481 | IMPDH1 | c.904C>G (p.Arg302Gly) n.887C>G c.1012C>G (p.Arg338Gly) c.644C>G c.982C>G (p.Arg328Gly) c.913C>G (p.Arg305Gly) c.777C>G c.754C>G (p.Arg252Gly) c.742C>G (p.Arg248Gly) c.887C>G (n.887C>G) c.682C>G (p.Arg228Gly) c.805C>G (p.Arg269Gly) c.757C>G (p.Arg253Gly) c.781C>G (p.Arg261Gly) c.394C>G (p.Arg132Gly) | |
7 | g.128398476G= | CA1742328000 | IMPDH1 | c.904C= (p.Arg302=) n.887C= c.1012C= (p.Arg338=) c.644C= c.982C= (p.Arg328=) c.913C= (p.Arg305=) c.777C= c.754C= (p.Arg252=) c.742C= (p.Arg248=) c.887C= (n.887C=) c.682C= (p.Arg228=) c.805C= (p.Arg269=) c.757C= (p.Arg253=) c.781C= (p.Arg261=) c.394C= (p.Arg132=) | |
7 | g.128398476G>T | CA369168475 | IMPDH1 | c.904C>A (p.Arg302Ser) n.887C>A c.1012C>A (p.Arg338Ser) c.644C>A c.982C>A (p.Arg328Ser) c.913C>A (p.Arg305Ser) c.777C>A c.754C>A (p.Arg252Ser) c.742C>A (p.Arg248Ser) c.887C>A (n.887C>A) c.682C>A (p.Arg228Ser) c.805C>A (p.Arg269Ser) c.757C>A (p.Arg253Ser) c.781C>A (p.Arg261Ser) c.394C>A (p.Arg132Ser) | |
7 | g.128398478del | CA2684777528 | IMPDH1 | c.904del (p.Arg302ValfsTer19) n.887del c.1012del (p.Arg338ValfsTer19) c.644del c.982del (p.Arg328ValfsTer19) c.913del (p.Arg305ValfsTer19) c.777del c.754del (p.Arg252ValfsTer19) c.742del (p.Arg248ValfsTer19) c.887del (n.887del) c.682del (p.Arg228ValfsTer19) c.805del (p.Arg269ValfsTer19) c.757del (p.Arg253ValfsTer19) c.781del (p.Arg261ValfsTer19) c.394del (p.Arg132ValfsTer19) | gnomAD v4 |
7 | g.128398477G>A | CA457528233 | IMPDH1 | c.903C>T (p.Thr301=) n.886C>T c.1011C>T (p.Thr337=) c.643C>T c.981C>T (p.Thr327=) c.912C>T (p.Thr304=) c.776C>T c.753C>T (p.Thr251=) c.741C>T (p.Thr247=) c.886C>T (n.886C>T) c.681C>T (p.Thr227=) c.804C>T (p.Thr268=) c.756C>T (p.Thr252=) c.780C>T (p.Thr260=) c.393C>T (p.Thr131=) | |
7 | g.128398477G>C | CA457528234 | IMPDH1 | c.903C>G (p.Thr301=) n.886C>G c.1011C>G (p.Thr337=) c.643C>G c.981C>G (p.Thr327=) c.912C>G (p.Thr304=) c.776C>G c.753C>G (p.Thr251=) c.741C>G (p.Thr247=) c.886C>G (n.886C>G) c.681C>G (p.Thr227=) c.804C>G (p.Thr268=) c.756C>G (p.Thr252=) c.780C>G (p.Thr260=) c.393C>G (p.Thr131=) | |
7 | g.128398477G>T | CA457528235 | IMPDH1 | c.903C>A (p.Thr301=) n.886C>A c.1011C>A (p.Thr337=) c.643C>A c.981C>A (p.Thr327=) c.912C>A (p.Thr304=) c.776C>A c.753C>A (p.Thr251=) c.741C>A (p.Thr247=) c.886C>A (n.886C>A) c.681C>A (p.Thr227=) c.804C>A (p.Thr268=) c.756C>A (p.Thr252=) c.780C>A (p.Thr260=) c.393C>A (p.Thr131=) | |
7 | g.128398478G>A | CA4470980 | IMPDH1 | c.902C>T (p.Thr301Ile) n.885C>T c.1010C>T (p.Thr337Ile) c.642C>T c.980C>T (p.Thr327Ile) c.911C>T (p.Thr304Ile) c.775C>T c.752C>T (p.Thr251Ile) c.740C>T (p.Thr247Ile) c.885C>T (n.885C>T) c.680C>T (p.Thr227Ile) c.803C>T (p.Thr268Ile) c.755C>T (p.Thr252Ile) c.779C>T (p.Thr260Ile) c.392C>T (p.Thr131Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.128398478G>C | CA369168500 | IMPDH1 | c.902C>G (p.Thr301Ser) n.885C>G c.1010C>G (p.Thr337Ser) c.642C>G c.980C>G (p.Thr327Ser) c.911C>G (p.Thr304Ser) c.775C>G c.752C>G (p.Thr251Ser) c.740C>G (p.Thr247Ser) c.885C>G (n.885C>G) c.680C>G (p.Thr227Ser) c.803C>G (p.Thr268Ser) c.755C>G (p.Thr252Ser) c.779C>G (p.Thr260Ser) c.392C>G (p.Thr131Ser) | |
7 | g.128398478G= | CA1742328008 | IMPDH1 | c.902C= (p.Thr301=) n.885C= c.1010C= (p.Thr337=) c.642C= c.980C= (p.Thr327=) c.911C= (p.Thr304=) c.775C= c.752C= (p.Thr251=) c.740C= (p.Thr247=) c.885C= (n.885C=) c.680C= (p.Thr227=) c.803C= (p.Thr268=) c.755C= (p.Thr252=) c.779C= (p.Thr260=) c.392C= (p.Thr131=) | |
7 | g.128398478G>T | CA369168503 | IMPDH1 | c.902C>A (p.Thr301Asn) n.885C>A c.1010C>A (p.Thr337Asn) c.642C>A c.980C>A (p.Thr327Asn) c.911C>A (p.Thr304Asn) c.775C>A c.752C>A (p.Thr251Asn) c.740C>A (p.Thr247Asn) c.885C>A (n.885C>A) c.680C>A (p.Thr227Asn) c.803C>A (p.Thr268Asn) c.755C>A (p.Thr252Asn) c.779C>A (p.Thr260Asn) c.392C>A (p.Thr131Asn) | |
7 | g.128398479T>A | CA369168504 | IMPDH1 | c.901A>T (p.Thr301Ser) n.884A>T c.1009A>T (p.Thr337Ser) c.641A>T c.979A>T (p.Thr327Ser) c.910A>T (p.Thr304Ser) c.774A>T c.751A>T (p.Thr251Ser) c.739A>T (p.Thr247Ser) c.884A>T (n.884A>T) c.679A>T (p.Thr227Ser) c.802A>T (p.Thr268Ser) c.754A>T (p.Thr252Ser) c.778A>T (p.Thr260Ser) c.391A>T (p.Thr131Ser) | ClinVar |
7 | g.128398479T>C | CA369168507 | IMPDH1 | c.901A>G (p.Thr301Ala) n.884A>G c.1009A>G (p.Thr337Ala) c.641A>G c.979A>G (p.Thr327Ala) c.910A>G (p.Thr304Ala) c.774A>G c.751A>G (p.Thr251Ala) c.739A>G (p.Thr247Ala) c.884A>G (n.884A>G) c.679A>G (p.Thr227Ala) c.802A>G (p.Thr268Ala) c.754A>G (p.Thr252Ala) c.778A>G (p.Thr260Ala) c.391A>G (p.Thr131Ala) | |
7 | g.128398479T>G | CA369168509 | IMPDH1 | c.901A>C (p.Thr301Pro) n.884A>C c.1009A>C (p.Thr337Pro) c.641A>C c.979A>C (p.Thr327Pro) c.910A>C (p.Thr304Pro) c.774A>C c.751A>C (p.Thr251Pro) c.739A>C (p.Thr247Pro) c.884A>C (n.884A>C) c.679A>C (p.Thr227Pro) c.802A>C (p.Thr268Pro) c.754A>C (p.Thr252Pro) c.778A>C (p.Thr260Pro) c.391A>C (p.Thr131Pro) | |
7 | g.128398480G>A | CA457528239 | IMPDH1 | c.900C>T (p.Gly300=) n.883C>T c.1008C>T (p.Gly336=) c.640C>T c.978C>T (p.Gly326=) c.909C>T (p.Gly303=) c.773C>T c.750C>T (p.Gly250=) c.738C>T (p.Gly246=) c.883C>T (n.883C>T) c.678C>T (p.Gly226=) c.801C>T (p.Gly267=) c.753C>T (p.Gly251=) c.777C>T (p.Gly259=) c.390C>T (p.Gly130=) | gnomAD v4 |
7 | g.128398480G>C | CA457528240 | IMPDH1 | c.900C>G (p.Gly300=) n.883C>G c.1008C>G (p.Gly336=) c.640C>G c.978C>G (p.Gly326=) c.909C>G (p.Gly303=) c.773C>G c.750C>G (p.Gly250=) c.738C>G (p.Gly246=) c.883C>G (n.883C>G) c.678C>G (p.Gly226=) c.801C>G (p.Gly267=) c.753C>G (p.Gly251=) c.777C>G (p.Gly259=) c.390C>G (p.Gly130=) | |
7 | g.128398480G>T | CA457528241 | IMPDH1 | c.900C>A (p.Gly300=) n.883C>A c.1008C>A (p.Gly336=) c.640C>A c.978C>A (p.Gly326=) c.909C>A (p.Gly303=) c.773C>A c.750C>A (p.Gly250=) c.738C>A (p.Gly246=) c.883C>A (n.883C>A) c.678C>A (p.Gly226=) c.801C>A (p.Gly267=) c.753C>A (p.Gly251=) c.777C>A (p.Gly259=) c.390C>A (p.Gly130=) | |
7 | g.128398481C>A | CA369168513 | IMPDH1 | c.899G>T (p.Gly300Val) n.882G>T c.1007G>T (p.Gly336Val) c.639G>T c.977G>T (p.Gly326Val) c.908G>T (p.Gly303Val) c.772G>T c.749G>T (p.Gly250Val) c.737G>T (p.Gly246Val) c.882G>T (n.882G>T) c.677G>T (p.Gly226Val) c.800G>T (p.Gly267Val) c.752G>T (p.Gly251Val) c.776G>T (p.Gly259Val) c.389G>T (p.Gly130Val) | |
7 | g.128398481C>G | CA369168515 | IMPDH1 | c.899G>C (p.Gly300Ala) n.882G>C c.1007G>C (p.Gly336Ala) c.639G>C c.977G>C (p.Gly326Ala) c.908G>C (p.Gly303Ala) c.772G>C c.749G>C (p.Gly250Ala) c.737G>C (p.Gly246Ala) c.882G>C (n.882G>C) c.677G>C (p.Gly226Ala) c.800G>C (p.Gly267Ala) c.752G>C (p.Gly251Ala) c.776G>C (p.Gly259Ala) c.389G>C (p.Gly130Ala) | |
7 | g.128398481C>T | CA369168514 | IMPDH1 | c.899G>A (p.Gly300Asp) n.882G>A c.1007G>A (p.Gly336Asp) c.639G>A c.977G>A (p.Gly326Asp) c.908G>A (p.Gly303Asp) c.772G>A c.749G>A (p.Gly250Asp) c.737G>A (p.Gly246Asp) c.882G>A (n.882G>A) c.677G>A (p.Gly226Asp) c.800G>A (p.Gly267Asp) c.752G>A (p.Gly251Asp) c.776G>A (p.Gly259Asp) c.389G>A (p.Gly130Asp) | |
7 | g.128398482C>A | CA369168522 | IMPDH1 | c.898G>T (p.Gly300Cys) n.881G>T c.1006G>T (p.Gly336Cys) c.638G>T c.976G>T (p.Gly326Cys) c.907G>T (p.Gly303Cys) c.771G>T c.748G>T (p.Gly250Cys) c.736G>T (p.Gly246Cys) c.881G>T (n.881G>T) c.676G>T (p.Gly226Cys) c.799G>T (p.Gly267Cys) c.751G>T (p.Gly251Cys) c.775G>T (p.Gly259Cys) c.388G>T (p.Gly130Cys) | |
7 | g.128398482C>G | CA369168526 | IMPDH1 | c.898G>C (p.Gly300Arg) n.881G>C c.1006G>C (p.Gly336Arg) c.638G>C c.976G>C (p.Gly326Arg) c.907G>C (p.Gly303Arg) c.771G>C c.748G>C (p.Gly250Arg) c.736G>C (p.Gly246Arg) c.881G>C (n.881G>C) c.676G>C (p.Gly226Arg) c.799G>C (p.Gly267Arg) c.751G>C (p.Gly251Arg) c.775G>C (p.Gly259Arg) c.388G>C (p.Gly130Arg) | |
7 | g.128398482C>T | CA369168530 | IMPDH1 | c.898G>A (p.Gly300Ser) n.881G>A c.1006G>A (p.Gly336Ser) c.638G>A c.976G>A (p.Gly326Ser) c.907G>A (p.Gly303Ser) c.771G>A c.748G>A (p.Gly250Ser) c.736G>A (p.Gly246Ser) c.881G>A (n.881G>A) c.676G>A (p.Gly226Ser) c.799G>A (p.Gly267Ser) c.751G>A (p.Gly251Ser) c.775G>A (p.Gly259Ser) c.388G>A (p.Gly130Ser) | |
7 | g.128398483C>A | CA457528244 | IMPDH1 | c.897G>T (p.Val299=) n.880G>T c.1005G>T (p.Val335=) c.637G>T c.975G>T (p.Val325=) c.906G>T (p.Val302=) c.770G>T c.747G>T (p.Val249=) c.735G>T (p.Val245=) c.880G>T (n.880G>T) c.675G>T (p.Val225=) c.798G>T (p.Val266=) c.750G>T (p.Val250=) c.774G>T (p.Val258=) c.387G>T (p.Val129=) | |
7 | g.128398483C>G | CA457528245 | IMPDH1 | c.897G>C (p.Val299=) n.880G>C c.1005G>C (p.Val335=) c.637G>C c.975G>C (p.Val325=) c.906G>C (p.Val302=) c.770G>C c.747G>C (p.Val249=) c.735G>C (p.Val245=) c.880G>C (n.880G>C) c.675G>C (p.Val225=) c.798G>C (p.Val266=) c.750G>C (p.Val250=) c.774G>C (p.Val258=) c.387G>C (p.Val129=) | |
7 | g.128398483C>T | CA457528247 | IMPDH1 | c.897G>A (p.Val299=) n.880G>A c.1005G>A (p.Val335=) c.637G>A c.975G>A (p.Val325=) c.906G>A (p.Val302=) c.770G>A c.747G>A (p.Val249=) c.735G>A (p.Val245=) c.880G>A (n.880G>A) c.675G>A (p.Val225=) c.798G>A (p.Val266=) c.750G>A (p.Val250=) c.774G>A (p.Val258=) c.387G>A (p.Val129=) | |
7 | g.128398484A>C | CA369168533 | IMPDH1 | c.896T>G (p.Val299Gly) n.879T>G c.1004T>G (p.Val335Gly) c.636T>G c.974T>G (p.Val325Gly) c.905T>G (p.Val302Gly) c.769T>G c.746T>G (p.Val249Gly) c.734T>G (p.Val245Gly) c.879T>G (n.879T>G) c.674T>G (p.Val225Gly) c.797T>G (p.Val266Gly) c.749T>G (p.Val250Gly) c.773T>G (p.Val258Gly) c.386T>G (p.Val129Gly) | |
7 | g.128398484A>G | CA369168535 | IMPDH1 | c.896T>C (p.Val299Ala) n.879T>C c.1004T>C (p.Val335Ala) c.636T>C c.974T>C (p.Val325Ala) c.905T>C (p.Val302Ala) c.769T>C c.746T>C (p.Val249Ala) c.734T>C (p.Val245Ala) c.879T>C (n.879T>C) c.674T>C (p.Val225Ala) c.797T>C (p.Val266Ala) c.749T>C (p.Val250Ala) c.773T>C (p.Val258Ala) c.386T>C (p.Val129Ala) | gnomAD v4 |
7 | g.128398484A>T | CA369168537 | IMPDH1 | c.896T>A (p.Val299Glu) n.879T>A c.1004T>A (p.Val335Glu) c.636T>A c.974T>A (p.Val325Glu) c.905T>A (p.Val302Glu) c.769T>A c.746T>A (p.Val249Glu) c.734T>A (p.Val245Glu) c.879T>A (n.879T>A) c.674T>A (p.Val225Glu) c.797T>A (p.Val266Glu) c.749T>A (p.Val250Glu) c.773T>A (p.Val258Glu) c.386T>A (p.Val129Glu) | |
7 | g.128398485C>A | CA369168539 | IMPDH1 | c.895G>T (p.Val299Leu) n.878G>T c.1003G>T (p.Val335Leu) c.635G>T c.973G>T (p.Val325Leu) c.904G>T (p.Val302Leu) c.768G>T c.745G>T (p.Val249Leu) c.733G>T (p.Val245Leu) c.878G>T (n.878G>T) c.673G>T (p.Val225Leu) c.796G>T (p.Val266Leu) c.748G>T (p.Val250Leu) c.772G>T (p.Val258Leu) c.385G>T (p.Val129Leu) | |
7 | g.128398485C>G | CA369168540 | IMPDH1 | c.895G>C (p.Val299Leu) n.878G>C c.1003G>C (p.Val335Leu) c.635G>C c.973G>C (p.Val325Leu) c.904G>C (p.Val302Leu) c.768G>C c.745G>C (p.Val249Leu) c.733G>C (p.Val245Leu) c.878G>C (n.878G>C) c.673G>C (p.Val225Leu) c.796G>C (p.Val266Leu) c.748G>C (p.Val250Leu) c.772G>C (p.Val258Leu) c.385G>C (p.Val129Leu) | |
7 | g.128398485C>T | CA369168541 | IMPDH1 | c.895G>A (p.Val299Met) n.878G>A c.1003G>A (p.Val335Met) c.635G>A c.973G>A (p.Val325Met) c.904G>A (p.Val302Met) c.768G>A c.745G>A (p.Val249Met) c.733G>A (p.Val245Met) c.878G>A (n.878G>A) c.673G>A (p.Val225Met) c.796G>A (p.Val266Met) c.748G>A (p.Val250Met) c.772G>A (p.Val258Met) c.385G>A (p.Val129Met) | |
7 | g.128398486A>C | CA457528249 | IMPDH1 | c.894T>G (p.Ala298=) n.877T>G c.1002T>G (p.Ala334=) c.634T>G c.972T>G (p.Ala324=) c.903T>G (p.Ala301=) c.767T>G c.744T>G (p.Ala248=) c.732T>G (p.Ala244=) c.877T>G (n.877T>G) c.672T>G (p.Ala224=) c.795T>G (p.Ala265=) c.747T>G (p.Ala249=) c.771T>G (p.Ala257=) c.384T>G (p.Ala128=) | |
7 | g.128398486A>G | CA457528251 | IMPDH1 | c.894T>C (p.Ala298=) n.877T>C c.1002T>C (p.Ala334=) c.634T>C c.972T>C (p.Ala324=) c.903T>C (p.Ala301=) c.767T>C c.744T>C (p.Ala248=) c.732T>C (p.Ala244=) c.877T>C (n.877T>C) c.672T>C (p.Ala224=) c.795T>C (p.Ala265=) c.747T>C (p.Ala249=) c.771T>C (p.Ala257=) c.384T>C (p.Ala128=) | |
7 | g.128398486A>T | CA457528252 | IMPDH1 | c.894T>A (p.Ala298=) n.877T>A c.1002T>A (p.Ala334=) c.634T>A c.972T>A (p.Ala324=) c.903T>A (p.Ala301=) c.767T>A c.744T>A (p.Ala248=) c.732T>A (p.Ala244=) c.877T>A (n.877T>A) c.672T>A (p.Ala224=) c.795T>A (p.Ala265=) c.747T>A (p.Ala249=) c.771T>A (p.Ala257=) c.384T>A (p.Ala128=) | |
7 | g.128398487G>A | CA369168544 | IMPDH1 | c.893C>T (p.Ala298Val) n.876C>T c.1001C>T (p.Ala334Val) c.633C>T c.971C>T (p.Ala324Val) c.902C>T (p.Ala301Val) c.766C>T c.743C>T (p.Ala248Val) c.731C>T (p.Ala244Val) c.876C>T (n.876C>T) c.671C>T (p.Ala224Val) c.794C>T (p.Ala265Val) c.746C>T (p.Ala249Val) c.770C>T (p.Ala257Val) c.383C>T (p.Ala128Val) | |
7 | g.128398487G>C | CA369168548 | IMPDH1 | c.893C>G (p.Ala298Gly) n.876C>G c.1001C>G (p.Ala334Gly) c.633C>G c.971C>G (p.Ala324Gly) c.902C>G (p.Ala301Gly) c.766C>G c.743C>G (p.Ala248Gly) c.731C>G (p.Ala244Gly) c.876C>G (n.876C>G) c.671C>G (p.Ala224Gly) c.794C>G (p.Ala265Gly) c.746C>G (p.Ala249Gly) c.770C>G (p.Ala257Gly) c.383C>G (p.Ala128Gly) | |
7 | g.128398487G>T | CA369168562 | IMPDH1 | c.893C>A (p.Ala298Asp) n.876C>A c.1001C>A (p.Ala334Asp) c.633C>A c.971C>A (p.Ala324Asp) c.902C>A (p.Ala301Asp) c.766C>A c.743C>A (p.Ala248Asp) c.731C>A (p.Ala244Asp) c.876C>A (n.876C>A) c.671C>A (p.Ala224Asp) c.794C>A (p.Ala265Asp) c.746C>A (p.Ala249Asp) c.770C>A (p.Ala257Asp) c.383C>A (p.Ala128Asp) | |
7 | g.128398488C>A | CA369168572 | IMPDH1 | c.892G>T (p.Ala298Ser) n.875G>T c.1000G>T (p.Ala334Ser) c.632G>T c.970G>T (p.Ala324Ser) c.901G>T (p.Ala301Ser) c.765G>T c.742G>T (p.Ala248Ser) c.730G>T (p.Ala244Ser) c.875G>T (n.875G>T) c.670G>T (p.Ala224Ser) c.793G>T (p.Ala265Ser) c.745G>T (p.Ala249Ser) c.769G>T (p.Ala257Ser) c.382G>T (p.Ala128Ser) | |
7 | g.128398488C>G | CA369168573 | IMPDH1 | c.892G>C (p.Ala298Pro) n.875G>C c.1000G>C (p.Ala334Pro) c.632G>C c.970G>C (p.Ala324Pro) c.901G>C (p.Ala301Pro) c.765G>C c.742G>C (p.Ala248Pro) c.730G>C (p.Ala244Pro) c.875G>C (n.875G>C) c.670G>C (p.Ala224Pro) c.793G>C (p.Ala265Pro) c.745G>C (p.Ala249Pro) c.769G>C (p.Ala257Pro) c.382G>C (p.Ala128Pro) | |
7 | g.128398488C>T | CA369168568 | IMPDH1 | c.892G>A (p.Ala298Thr) n.875G>A c.1000G>A (p.Ala334Thr) c.632G>A c.970G>A (p.Ala324Thr) c.901G>A (p.Ala301Thr) c.765G>A c.742G>A (p.Ala248Thr) c.730G>A (p.Ala244Thr) c.875G>A (n.875G>A) c.670G>A (p.Ala224Thr) c.793G>A (p.Ala265Thr) c.745G>A (p.Ala249Thr) c.769G>A (p.Ala257Thr) c.382G>A (p.Ala128Thr) | |
7 | g.128398489T>A | CA457528257 | IMPDH1 | c.891A>T (p.Ala297=) n.874A>T c.999A>T (p.Ala333=) c.631A>T c.969A>T (p.Ala323=) c.900A>T (p.Ala300=) c.764A>T c.741A>T (p.Ala247=) c.729A>T (p.Ala243=) c.874A>T (n.874A>T) c.669A>T (p.Ala223=) c.792A>T (p.Ala264=) c.744A>T (p.Ala248=) c.768A>T (p.Ala256=) c.381A>T (p.Ala127=) | |
7 | g.128398489T>C | CA457528258 | IMPDH1 | c.891A>G (p.Ala297=) n.874A>G c.999A>G (p.Ala333=) c.631A>G c.969A>G (p.Ala323=) c.900A>G (p.Ala300=) c.764A>G c.741A>G (p.Ala247=) c.729A>G (p.Ala243=) c.874A>G (n.874A>G) c.669A>G (p.Ala223=) c.792A>G (p.Ala264=) c.744A>G (p.Ala248=) c.768A>G (p.Ala256=) c.381A>G (p.Ala127=) | |
7 | g.128398489T>G | CA457528255 | IMPDH1 | c.891A>C (p.Ala297=) n.874A>C c.999A>C (p.Ala333=) c.631A>C c.969A>C (p.Ala323=) c.900A>C (p.Ala300=) c.764A>C c.741A>C (p.Ala247=) c.729A>C (p.Ala243=) c.874A>C (n.874A>C) c.669A>C (p.Ala223=) c.792A>C (p.Ala264=) c.744A>C (p.Ala248=) c.768A>C (p.Ala256=) c.381A>C (p.Ala127=) | |
7 | g.128398490G>A | CA369168580 | IMPDH1 | c.890C>T (p.Ala297Val) n.873C>T c.998C>T (p.Ala333Val) c.630C>T c.968C>T (p.Ala323Val) c.899C>T (p.Ala300Val) n.587C>T c.763C>T c.740C>T (p.Ala247Val) c.728C>T (p.Ala243Val) c.873C>T (n.873C>T) c.668C>T (p.Ala223Val) c.791C>T (p.Ala264Val) c.743C>T (p.Ala248Val) c.767C>T (p.Ala256Val) c.380C>T (p.Ala127Val) | |
7 | g.128398490G>C | CA369168590 | IMPDH1 | c.890C>G (p.Ala297Gly) n.873C>G c.998C>G (p.Ala333Gly) c.630C>G c.968C>G (p.Ala323Gly) c.899C>G (p.Ala300Gly) n.587C>G c.763C>G c.740C>G (p.Ala247Gly) c.728C>G (p.Ala243Gly) c.873C>G (n.873C>G) c.668C>G (p.Ala223Gly) c.791C>G (p.Ala264Gly) c.743C>G (p.Ala248Gly) c.767C>G (p.Ala256Gly) c.380C>G (p.Ala127Gly) | |
7 | g.128398490G>T | CA369168582 | IMPDH1 | c.890C>A (p.Ala297Glu) n.873C>A c.998C>A (p.Ala333Glu) c.630C>A c.968C>A (p.Ala323Glu) c.899C>A (p.Ala300Glu) n.587C>A c.763C>A c.740C>A (p.Ala247Glu) c.728C>A (p.Ala243Glu) c.873C>A (n.873C>A) c.668C>A (p.Ala223Glu) c.791C>A (p.Ala264Glu) c.743C>A (p.Ala248Glu) c.767C>A (p.Ala256Glu) c.380C>A (p.Ala127Glu) | |
7 | g.128398491C>A | CA369168598 | IMPDH1 | c.889G>T (p.Ala297Ser) n.872G>T c.997G>T (p.Ala333Ser) c.629G>T c.967G>T (p.Ala323Ser) c.898G>T (p.Ala300Ser) n.586G>T c.762G>T c.739G>T (p.Ala247Ser) c.727G>T (p.Ala243Ser) c.872G>T (n.872G>T) c.667G>T (p.Ala223Ser) c.790G>T (p.Ala264Ser) c.742G>T (p.Ala248Ser) c.766G>T (p.Ala256Ser) c.379G>T (p.Ala127Ser) | dbSNP gnomAD v4 |
7 | g.128398491C= | CA1742328017 | IMPDH1 | c.889G= (p.Ala297=) n.872G= c.997G= (p.Ala333=) c.629G= c.967G= (p.Ala323=) c.898G= (p.Ala300=) n.586G= c.762G= c.739G= (p.Ala247=) c.727G= (p.Ala243=) c.872G= (n.872G=) c.667G= (p.Ala223=) c.790G= (p.Ala264=) c.742G= (p.Ala248=) c.766G= (p.Ala256=) c.379G= (p.Ala127=) | |
7 | g.128398491C>G | CA369168609 | IMPDH1 | c.889G>C (p.Ala297Pro) n.872G>C c.997G>C (p.Ala333Pro) c.629G>C c.967G>C (p.Ala323Pro) c.898G>C (p.Ala300Pro) n.586G>C c.762G>C c.739G>C (p.Ala247Pro) c.727G>C (p.Ala243Pro) c.872G>C (n.872G>C) c.667G>C (p.Ala223Pro) c.790G>C (p.Ala264Pro) c.742G>C (p.Ala248Pro) c.766G>C (p.Ala256Pro) c.379G>C (p.Ala127Pro) | |
7 | g.128398491C>T | CA369168613 | IMPDH1 | c.889G>A (p.Ala297Thr) n.872G>A c.997G>A (p.Ala333Thr) c.629G>A c.967G>A (p.Ala323Thr) c.898G>A (p.Ala300Thr) n.586G>A c.762G>A c.739G>A (p.Ala247Thr) c.727G>A (p.Ala243Thr) c.872G>A (n.872G>A) c.667G>A (p.Ala223Thr) c.790G>A (p.Ala264Thr) c.742G>A (p.Ala248Thr) c.766G>A (p.Ala256Thr) c.379G>A (p.Ala127Thr) | |
7 | g.128398492C>A | CA457528261 | IMPDH1 | c.888G>T (p.Gly296=) n.871G>T c.996G>T (p.Gly332=) c.628G>T c.966G>T (p.Gly322=) c.897G>T (p.Gly299=) n.585G>T c.761G>T c.738G>T (p.Gly246=) c.726G>T (p.Gly242=) c.871G>T (n.871G>T) c.666G>T (p.Gly222=) c.789G>T (p.Gly263=) c.741G>T (p.Gly247=) c.765G>T (p.Gly255=) c.378G>T (p.Gly126=) | |
7 | g.128398492C>G | CA457528260 | IMPDH1 | c.888G>C (p.Gly296=) n.871G>C c.996G>C (p.Gly332=) c.628G>C c.966G>C (p.Gly322=) c.897G>C (p.Gly299=) n.585G>C c.761G>C c.738G>C (p.Gly246=) c.726G>C (p.Gly242=) c.871G>C (n.871G>C) c.666G>C (p.Gly222=) c.789G>C (p.Gly263=) c.741G>C (p.Gly247=) c.765G>C (p.Gly255=) c.378G>C (p.Gly126=) | |
7 | g.128398492C>T | CA457528259 | IMPDH1 | c.888G>A (p.Gly296=) n.871G>A c.996G>A (p.Gly332=) c.628G>A c.966G>A (p.Gly322=) c.897G>A (p.Gly299=) n.585G>A c.761G>A c.738G>A (p.Gly246=) c.726G>A (p.Gly242=) c.871G>A (n.871G>A) c.666G>A (p.Gly222=) c.789G>A (p.Gly263=) c.741G>A (p.Gly247=) c.765G>A (p.Gly255=) c.378G>A (p.Gly126=) | |
7 | g.128398493C>A | CA369168625 | IMPDH1 | c.887G>T (p.Gly296Val) n.870G>T c.995G>T (p.Gly332Val) c.627G>T c.965G>T (p.Gly322Val) c.896G>T (p.Gly299Val) n.584G>T c.760G>T c.737G>T (p.Gly246Val) c.725G>T (p.Gly242Val) c.870G>T (n.870G>T) c.665G>T (p.Gly222Val) c.788G>T (p.Gly263Val) c.740G>T (p.Gly247Val) c.764G>T (p.Gly255Val) c.377G>T (p.Gly126Val) | |
7 | g.128398493C>G | CA369168642 | IMPDH1 | c.887G>C (p.Gly296Ala) n.870G>C c.995G>C (p.Gly332Ala) c.627G>C c.965G>C (p.Gly322Ala) c.896G>C (p.Gly299Ala) n.584G>C c.760G>C c.737G>C (p.Gly246Ala) c.725G>C (p.Gly242Ala) c.870G>C (n.870G>C) c.665G>C (p.Gly222Ala) c.788G>C (p.Gly263Ala) c.740G>C (p.Gly247Ala) c.764G>C (p.Gly255Ala) c.377G>C (p.Gly126Ala) | |
7 | g.128398493C>T | CA369168645 | IMPDH1 | c.887G>A (p.Gly296Glu) n.870G>A c.995G>A (p.Gly332Glu) c.627G>A c.965G>A (p.Gly322Glu) c.896G>A (p.Gly299Glu) n.584G>A c.760G>A c.737G>A (p.Gly246Glu) c.725G>A (p.Gly242Glu) c.870G>A (n.870G>A) c.665G>A (p.Gly222Glu) c.788G>A (p.Gly263Glu) c.740G>A (p.Gly247Glu) c.764G>A (p.Gly255Glu) c.377G>A (p.Gly126Glu) | |
7 | g.128398494C>A | CA369168649 | IMPDH1 | c.886G>T (p.Gly296Trp) n.869G>T c.994G>T (p.Gly332Trp) c.626G>T c.964G>T (p.Gly322Trp) c.895G>T (p.Gly299Trp) n.583G>T c.759G>T c.736G>T (p.Gly246Trp) c.724G>T (p.Gly242Trp) c.869G>T (n.869G>T) c.664G>T (p.Gly222Trp) c.787G>T (p.Gly263Trp) c.739G>T (p.Gly247Trp) c.763G>T (p.Gly255Trp) c.376G>T (p.Gly126Trp) | |
7 | g.128398494C>G | CA369168661 | IMPDH1 | c.886G>C (p.Gly296Arg) n.869G>C c.994G>C (p.Gly332Arg) c.626G>C c.964G>C (p.Gly322Arg) c.895G>C (p.Gly299Arg) n.583G>C c.759G>C c.736G>C (p.Gly246Arg) c.724G>C (p.Gly242Arg) c.869G>C (n.869G>C) c.664G>C (p.Gly222Arg) c.787G>C (p.Gly263Arg) c.739G>C (p.Gly247Arg) c.763G>C (p.Gly255Arg) c.376G>C (p.Gly126Arg) | |
7 | g.128398494C>T | CA369168667 | IMPDH1 | c.886G>A (p.Gly296Arg) n.869G>A c.994G>A (p.Gly332Arg) c.626G>A c.964G>A (p.Gly322Arg) c.895G>A (p.Gly299Arg) n.583G>A c.759G>A c.736G>A (p.Gly246Arg) c.724G>A (p.Gly242Arg) c.869G>A (n.869G>A) c.664G>A (p.Gly222Arg) c.787G>A (p.Gly263Arg) c.739G>A (p.Gly247Arg) c.763G>A (p.Gly255Arg) c.376G>A (p.Gly126Arg) | gnomAD v4 |
7 | g.128398495A>C | CA369168676 | IMPDH1 | c.885T>G (p.Cys295Trp) n.868T>G c.993T>G (p.Cys331Trp) c.625T>G c.963T>G (p.Cys321Trp) c.894T>G (p.Cys298Trp) n.582T>G c.758T>G c.735T>G (p.Cys245Trp) c.723T>G (p.Cys241Trp) c.868T>G (n.868T>G) c.663T>G (p.Cys221Trp) c.786T>G (p.Cys262Trp) c.738T>G (p.Cys246Trp) c.762T>G (p.Cys254Trp) c.375T>G (p.Cys125Trp) | |
7 | g.128398495A>G | CA457528263 | IMPDH1 | c.885T>C (p.Cys295=) n.868T>C c.993T>C (p.Cys331=) c.625T>C c.963T>C (p.Cys321=) c.894T>C (p.Cys298=) n.582T>C c.758T>C c.735T>C (p.Cys245=) c.723T>C (p.Cys241=) c.868T>C (n.868T>C) c.663T>C (p.Cys221=) c.786T>C (p.Cys262=) c.738T>C (p.Cys246=) c.762T>C (p.Cys254=) c.375T>C (p.Cys125=) | |
7 | g.128398495A>T | CA369168687 | IMPDH1 | c.885T>A (p.Cys295Ter) n.868T>A c.993T>A (p.Cys331Ter) c.625T>A c.963T>A (p.Cys321Ter) c.894T>A (p.Cys298Ter) n.582T>A c.758T>A c.735T>A (p.Cys245Ter) c.723T>A (p.Cys241Ter) c.868T>A (n.868T>A) c.663T>A (p.Cys221Ter) c.786T>A (p.Cys262Ter) c.738T>A (p.Cys246Ter) c.762T>A (p.Cys254Ter) c.375T>A (p.Cys125Ter) | |
7 | g.128398496C>A | CA369168702 | IMPDH1 | c.884G>T (p.Cys295Phe) n.867G>T c.992G>T (p.Cys331Phe) c.624G>T c.962G>T (p.Cys321Phe) c.893G>T (p.Cys298Phe) n.581G>T c.757G>T c.734G>T (p.Cys245Phe) c.722G>T (p.Cys241Phe) c.867G>T (n.867G>T) c.662G>T (p.Cys221Phe) c.785G>T (p.Cys262Phe) c.737G>T (p.Cys246Phe) c.761G>T (p.Cys254Phe) c.374G>T (p.Cys125Phe) | |
7 | g.128398496C>G | CA369168699 | IMPDH1 | c.884G>C (p.Cys295Ser) n.867G>C c.992G>C (p.Cys331Ser) c.624G>C c.962G>C (p.Cys321Ser) c.893G>C (p.Cys298Ser) n.581G>C c.757G>C c.734G>C (p.Cys245Ser) c.722G>C (p.Cys241Ser) c.867G>C (n.867G>C) c.662G>C (p.Cys221Ser) c.785G>C (p.Cys262Ser) c.737G>C (p.Cys246Ser) c.761G>C (p.Cys254Ser) c.374G>C (p.Cys125Ser) | ClinVar dbSNP |
7 | g.128398496C>T | CA369168692 | IMPDH1 | c.884G>A (p.Cys295Tyr) n.867G>A c.992G>A (p.Cys331Tyr) c.624G>A c.962G>A (p.Cys321Tyr) c.893G>A (p.Cys298Tyr) n.581G>A c.757G>A c.734G>A (p.Cys245Tyr) c.722G>A (p.Cys241Tyr) c.867G>A (n.867G>A) c.662G>A (p.Cys221Tyr) c.785G>A (p.Cys262Tyr) c.737G>A (p.Cys246Tyr) c.761G>A (p.Cys254Tyr) c.374G>A (p.Cys125Tyr) | gnomAD v4 |
7 | g.128398497A>C | CA369168707 | IMPDH1 | c.883T>G (p.Cys295Gly) n.866T>G c.991T>G (p.Cys331Gly) c.623T>G c.961T>G (p.Cys321Gly) c.892T>G (p.Cys298Gly) n.580T>G c.756T>G c.733T>G (p.Cys245Gly) c.721T>G (p.Cys241Gly) c.866T>G (n.866T>G) c.661T>G (p.Cys221Gly) c.784T>G (p.Cys262Gly) c.736T>G (p.Cys246Gly) c.760T>G (p.Cys254Gly) c.373T>G (p.Cys125Gly) | |
7 | g.128398497A>G | CA369168710 | IMPDH1 | c.883T>C (p.Cys295Arg) n.866T>C c.991T>C (p.Cys331Arg) c.623T>C c.961T>C (p.Cys321Arg) c.892T>C (p.Cys298Arg) n.580T>C c.756T>C c.733T>C (p.Cys245Arg) c.721T>C (p.Cys241Arg) c.866T>C (n.866T>C) c.661T>C (p.Cys221Arg) c.784T>C (p.Cys262Arg) c.736T>C (p.Cys246Arg) c.760T>C (p.Cys254Arg) c.373T>C (p.Cys125Arg) | |
7 | g.128398497A>T | CA369168712 | IMPDH1 | c.883T>A (p.Cys295Ser) n.866T>A c.991T>A (p.Cys331Ser) c.623T>A c.961T>A (p.Cys321Ser) c.892T>A (p.Cys298Ser) n.580T>A c.756T>A c.733T>A (p.Cys245Ser) c.721T>A (p.Cys241Ser) c.866T>A (n.866T>A) c.661T>A (p.Cys221Ser) c.784T>A (p.Cys262Ser) c.736T>A (p.Cys246Ser) c.760T>A (p.Cys254Ser) c.373T>A (p.Cys125Ser) | |
7 | g.128398498G>A | CA457528267 | IMPDH1 | c.882C>T (p.Leu294=) n.865C>T c.990C>T (p.Leu330=) c.622C>T c.960C>T (p.Leu320=) c.891C>T (p.Leu297=) n.579C>T c.755C>T c.732C>T (p.Leu244=) c.720C>T (p.Leu240=) c.865C>T (n.865C>T) c.660C>T (p.Leu220=) c.783C>T (p.Leu261=) c.735C>T (p.Leu245=) c.759C>T (p.Leu253=) c.372C>T (p.Leu124=) | |
7 | g.128398498G>C | CA457528268 | IMPDH1 | c.882C>G (p.Leu294=) n.865C>G c.990C>G (p.Leu330=) c.622C>G c.960C>G (p.Leu320=) c.891C>G (p.Leu297=) n.579C>G c.755C>G c.732C>G (p.Leu244=) c.720C>G (p.Leu240=) c.865C>G (n.865C>G) c.660C>G (p.Leu220=) c.783C>G (p.Leu261=) c.735C>G (p.Leu245=) c.759C>G (p.Leu253=) c.372C>G (p.Leu124=) | |
7 | g.128398498G= | CA1742328018 | IMPDH1 | c.882C= (p.Leu294=) n.865C= c.990C= (p.Leu330=) c.622C= c.960C= (p.Leu320=) c.891C= (p.Leu297=) n.579C= c.755C= c.732C= (p.Leu244=) c.720C= (p.Leu240=) c.865C= (n.865C=) c.660C= (p.Leu220=) c.783C= (p.Leu261=) c.735C= (p.Leu245=) c.759C= (p.Leu253=) c.372C= (p.Leu124=) | |
7 | g.128398498G>T | CA457528269 | IMPDH1 | c.882C>A (p.Leu294=) n.865C>A c.990C>A (p.Leu330=) c.622C>A c.960C>A (p.Leu320=) c.891C>A (p.Leu297=) n.579C>A c.755C>A c.732C>A (p.Leu244=) c.720C>A (p.Leu240=) c.865C>A (n.865C>A) c.660C>A (p.Leu220=) c.783C>A (p.Leu261=) c.735C>A (p.Leu245=) c.759C>A (p.Leu253=) c.372C>A (p.Leu124=) | |
7 | g.128398499A= | CA1742328029 | IMPDH1 | c.881T= (p.Leu294=) n.864T= c.989T= (p.Leu330=) c.621T= c.959T= (p.Leu320=) c.890T= (p.Leu297=) n.578T= c.754T= c.731T= (p.Leu244=) c.719T= (p.Leu240=) c.864T= (n.864T=) c.659T= (p.Leu220=) c.782T= (p.Leu261=) c.734T= (p.Leu245=) c.758T= (p.Leu253=) c.371T= (p.Leu124=) | |
7 | g.128398499A>C | CA369168716 | IMPDH1 | c.881T>G (p.Leu294Arg) n.864T>G c.989T>G (p.Leu330Arg) c.621T>G c.959T>G (p.Leu320Arg) c.890T>G (p.Leu297Arg) n.578T>G c.754T>G c.731T>G (p.Leu244Arg) c.719T>G (p.Leu240Arg) c.864T>G (n.864T>G) c.659T>G (p.Leu220Arg) c.782T>G (p.Leu261Arg) c.734T>G (p.Leu245Arg) c.758T>G (p.Leu253Arg) c.371T>G (p.Leu124Arg) | |
7 | g.128398499A>G | CA369168718 | IMPDH1 | c.881T>C (p.Leu294Pro) n.864T>C c.989T>C (p.Leu330Pro) c.621T>C c.959T>C (p.Leu320Pro) c.890T>C (p.Leu297Pro) n.578T>C c.754T>C c.731T>C (p.Leu244Pro) c.719T>C (p.Leu240Pro) c.864T>C (n.864T>C) c.659T>C (p.Leu220Pro) c.782T>C (p.Leu261Pro) c.734T>C (p.Leu245Pro) c.758T>C (p.Leu253Pro) c.371T>C (p.Leu124Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128398499A>T | CA369168725 | IMPDH1 | c.881T>A (p.Leu294His) n.864T>A c.989T>A (p.Leu330His) c.621T>A c.959T>A (p.Leu320His) c.890T>A (p.Leu297His) n.578T>A c.754T>A c.731T>A (p.Leu244His) c.719T>A (p.Leu240His) c.864T>A (n.864T>A) c.659T>A (p.Leu220His) c.782T>A (p.Leu261His) c.734T>A (p.Leu245His) c.758T>A (p.Leu253His) c.371T>A (p.Leu124His) | |
7 | g.128398502_128398504dup | CA916082961 | IMPDH1 | c.879_881dup (p.Leu294_Cys295insLeu) n.862_864dup c.987_989dup (p.Leu330_Cys331insLeu) c.619_621dup c.957_959dup (p.Leu320_Cys321insLeu) c.888_890dup (p.Leu297_Cys298insLeu) n.576_578dup c.752_754dup c.729_731dup (p.Leu244_Cys245insLeu) c.717_719dup (p.Leu240_Cys241insLeu) c.862_864dup (n.862_864dup) c.657_659dup (p.Leu220_Cys221insLeu) c.780_782dup (p.Leu261_Cys262insLeu) c.732_734dup (p.Leu245_Cys246insLeu) c.756_758dup (p.Leu253_Cys254insLeu) c.369_371dup (p.Leu124_Cys125insLeu) | ClinVar dbSNP |
7 | g.128398500G>A | CA369168730 | IMPDH1 | c.880C>T (p.Leu294Phe) n.863C>T c.988C>T (p.Leu330Phe) c.620C>T c.958C>T (p.Leu320Phe) c.889C>T (p.Leu297Phe) n.577C>T c.753C>T c.730C>T (p.Leu244Phe) c.718C>T (p.Leu240Phe) c.863C>T (n.863C>T) c.658C>T (p.Leu220Phe) c.781C>T (p.Leu261Phe) c.733C>T (p.Leu245Phe) c.757C>T (p.Leu253Phe) c.370C>T (p.Leu124Phe) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128398500G>C | CA369168737 | IMPDH1 | c.880C>G (p.Leu294Val) n.863C>G c.988C>G (p.Leu330Val) c.620C>G c.958C>G (p.Leu320Val) c.889C>G (p.Leu297Val) n.577C>G c.753C>G c.730C>G (p.Leu244Val) c.718C>G (p.Leu240Val) c.863C>G (n.863C>G) c.658C>G (p.Leu220Val) c.781C>G (p.Leu261Val) c.733C>G (p.Leu245Val) c.757C>G (p.Leu253Val) c.370C>G (p.Leu124Val) | |
7 | g.128398500G= | CA1742328049 | IMPDH1 | c.880C= (p.Leu294=) n.863C= c.988C= (p.Leu330=) c.620C= c.958C= (p.Leu320=) c.889C= (p.Leu297=) n.577C= c.753C= c.730C= (p.Leu244=) c.718C= (p.Leu240=) c.863C= (n.863C=) c.658C= (p.Leu220=) c.781C= (p.Leu261=) c.733C= (p.Leu245=) c.757C= (p.Leu253=) c.370C= (p.Leu124=) | |
7 | g.128398500G>T | CA369168741 | IMPDH1 | c.880C>A (p.Leu294Ile) n.863C>A c.988C>A (p.Leu330Ile) c.620C>A c.958C>A (p.Leu320Ile) c.889C>A (p.Leu297Ile) n.577C>A c.753C>A c.730C>A (p.Leu244Ile) c.718C>A (p.Leu240Ile) c.863C>A (n.863C>A) c.658C>A (p.Leu220Ile) c.781C>A (p.Leu261Ile) c.733C>A (p.Leu245Ile) c.757C>A (p.Leu253Ile) c.370C>A (p.Leu124Ile) | |
7 | g.128398500_128398501delinsCG | CA2739278929 | IMPDH1 | c.879_880delinsCG (p.Leu294Val) n.862_863delinsCG c.987_988delinsCG (p.Leu330Val) c.619_620delinsCG c.957_958delinsCG (p.Leu320Val) c.888_889delinsCG (p.Leu297Val) n.576_577delinsCG c.752_753delinsCG c.729_730delinsCG (p.Leu244Val) c.717_718delinsCG (p.Leu240Val) c.862_863delinsCG (n.862_863delinsCG) c.657_658delinsCG (p.Leu220Val) c.780_781delinsCG (p.Leu261Val) c.732_733delinsCG (p.Leu245Val) c.756_757delinsCG (p.Leu253Val) c.369_370delinsCG (p.Leu124Val) | ClinVar |
7 | g.128398501C>A | CA457528273 | IMPDH1 | c.879G>T (p.Leu293=) n.862G>T c.987G>T (p.Leu329=) c.619G>T c.957G>T (p.Leu319=) c.888G>T (p.Leu296=) n.576G>T c.752G>T c.729G>T (p.Leu243=) c.717G>T (p.Leu239=) c.862G>T (n.862G>T) c.657G>T (p.Leu219=) c.780G>T (p.Leu260=) c.732G>T (p.Leu244=) c.756G>T (p.Leu252=) c.369G>T (p.Leu123=) | |
7 | g.128398501C= | CA1742328056 | IMPDH1 | c.879G= (p.Leu293=) n.862G= c.987G= (p.Leu329=) c.619G= c.957G= (p.Leu319=) c.888G= (p.Leu296=) n.576G= c.752G= c.729G= (p.Leu243=) c.717G= (p.Leu239=) c.862G= (n.862G=) c.657G= (p.Leu219=) c.780G= (p.Leu260=) c.732G= (p.Leu244=) c.756G= (p.Leu252=) c.369G= (p.Leu123=) | |
7 | g.128398501C>G | CA4470981 | IMPDH1 | c.879G>C (p.Leu293=) n.862G>C c.987G>C (p.Leu329=) c.619G>C c.957G>C (p.Leu319=) c.888G>C (p.Leu296=) n.576G>C c.752G>C c.729G>C (p.Leu243=) c.717G>C (p.Leu239=) c.862G>C (n.862G>C) c.657G>C (p.Leu219=) c.780G>C (p.Leu260=) c.732G>C (p.Leu244=) c.756G>C (p.Leu252=) c.369G>C (p.Leu123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398501C>T | CA457528274 | IMPDH1 | c.879G>A (p.Leu293=) n.862G>A c.987G>A (p.Leu329=) c.619G>A c.957G>A (p.Leu319=) c.888G>A (p.Leu296=) n.576G>A c.752G>A c.729G>A (p.Leu243=) c.717G>A (p.Leu239=) c.862G>A (n.862G>A) c.657G>A (p.Leu219=) c.780G>A (p.Leu260=) c.732G>A (p.Leu244=) c.756G>A (p.Leu252=) c.369G>A (p.Leu123=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.128398502A>C | CA369168746 | IMPDH1 | c.878T>G (p.Leu293Arg) n.861T>G c.986T>G (p.Leu329Arg) c.618T>G c.956T>G (p.Leu319Arg) c.887T>G (p.Leu296Arg) n.575T>G c.751T>G c.728T>G (p.Leu243Arg) c.716T>G (p.Leu239Arg) c.861T>G (n.861T>G) c.656T>G (p.Leu219Arg) c.779T>G (p.Leu260Arg) c.731T>G (p.Leu244Arg) c.755T>G (p.Leu252Arg) c.368T>G (p.Leu123Arg) | |
7 | g.128398502A>G | CA369168749 | IMPDH1 | c.878T>C (p.Leu293Pro) n.861T>C c.986T>C (p.Leu329Pro) c.618T>C c.956T>C (p.Leu319Pro) c.887T>C (p.Leu296Pro) n.575T>C c.751T>C c.728T>C (p.Leu243Pro) c.716T>C (p.Leu239Pro) c.861T>C (n.861T>C) c.656T>C (p.Leu219Pro) c.779T>C (p.Leu260Pro) c.731T>C (p.Leu244Pro) c.755T>C (p.Leu252Pro) c.368T>C (p.Leu123Pro) | |
7 | g.128398502A>T | CA369168750 | IMPDH1 | c.878T>A (p.Leu293Gln) n.861T>A c.986T>A (p.Leu329Gln) c.618T>A c.956T>A (p.Leu319Gln) c.887T>A (p.Leu296Gln) n.575T>A c.751T>A c.728T>A (p.Leu243Gln) c.716T>A (p.Leu239Gln) c.861T>A (n.861T>A) c.656T>A (p.Leu219Gln) c.779T>A (p.Leu260Gln) c.731T>A (p.Leu244Gln) c.755T>A (p.Leu252Gln) c.368T>A (p.Leu123Gln) |