Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.128398369T>CCA2579011680IMPDH1c.966+45A>G (n.966+45A>G)
n.949+45A>G
c.1074+45A>G (n.1074+45A>G)
c.706+45A>G
c.1044+45A>G (n.1044+45A>G)
c.975+45A>G (n.975+45A>G)
c.839+45A>G
c.816+45A>G (n.816+45A>G)
c.804+45A>G (n.804+45A>G)
c.949+45A>G (n.949+45A>G)
c.744+45A>G (n.744+45A>G)
c.819+45A>G (n.819+45A>G)
c.867+45A>G (n.867+45A>G)
c.843+45A>G (n.843+45A>G)
c.456+45A>G (n.456+45A>G)
7g.128398370G>ACA2684777430IMPDH1c.966+44C>T (n.966+44C>T)
n.949+44C>T
c.1074+44C>T (n.1074+44C>T)
c.706+44C>T
c.1044+44C>T (n.1044+44C>T)
c.975+44C>T (n.975+44C>T)
c.839+44C>T
c.816+44C>T (n.816+44C>T)
c.804+44C>T (n.804+44C>T)
c.949+44C>T (n.949+44C>T)
c.744+44C>T (n.744+44C>T)
c.819+44C>T (n.819+44C>T)
c.867+44C>T (n.867+44C>T)
c.843+44C>T (n.843+44C>T)
c.456+44C>T (n.456+44C>T)
gnomAD v4
7g.128398370G>TCA2579011681IMPDH1c.966+44C>A (n.966+44C>A)
n.949+44C>A
c.1074+44C>A (n.1074+44C>A)
c.706+44C>A
c.1044+44C>A (n.1044+44C>A)
c.975+44C>A (n.975+44C>A)
c.839+44C>A
c.816+44C>A (n.816+44C>A)
c.804+44C>A (n.804+44C>A)
c.949+44C>A (n.949+44C>A)
c.744+44C>A (n.744+44C>A)
c.819+44C>A (n.819+44C>A)
c.867+44C>A (n.867+44C>A)
c.843+44C>A (n.843+44C>A)
c.456+44C>A (n.456+44C>A)
gnomAD v4
7g.128398371A>CCA2684777431IMPDH1c.966+43T>G (n.966+43T>G)
n.949+43T>G
c.1074+43T>G (n.1074+43T>G)
c.706+43T>G
c.1044+43T>G (n.1044+43T>G)
c.975+43T>G (n.975+43T>G)
c.839+43T>G
c.816+43T>G (n.816+43T>G)
c.804+43T>G (n.804+43T>G)
c.949+43T>G (n.949+43T>G)
c.744+43T>G (n.744+43T>G)
c.819+43T>G (n.819+43T>G)
c.867+43T>G (n.867+43T>G)
c.843+43T>G (n.843+43T>G)
c.456+43T>G (n.456+43T>G)
gnomAD v4
7g.128398372A=CA1742366328IMPDH1c.966+42T= (n.966+42T=)
n.949+42T=
c.1074+42T= (n.1074+42T=)
c.706+42T=
c.1044+42T= (n.1044+42T=)
c.975+42T= (n.975+42T=)
c.839+42T=
c.816+42T= (n.816+42T=)
c.804+42T= (n.804+42T=)
c.949+42T= (n.949+42T=)
c.744+42T= (n.744+42T=)
c.819+42T= (n.819+42T=)
c.867+42T= (n.867+42T=)
c.843+42T= (n.843+42T=)
c.456+42T= (n.456+42T=)
7g.128398372A>CCA4470960IMPDH1c.966+42T>G (n.966+42T>G)
n.949+42T>G
c.1074+42T>G (n.1074+42T>G)
c.706+42T>G
c.1044+42T>G (n.1044+42T>G)
c.975+42T>G (n.975+42T>G)
c.839+42T>G
c.816+42T>G (n.816+42T>G)
c.804+42T>G (n.804+42T>G)
c.949+42T>G (n.949+42T>G)
c.744+42T>G (n.744+42T>G)
c.819+42T>G (n.819+42T>G)
c.867+42T>G (n.867+42T>G)
c.843+42T>G (n.843+42T>G)
c.456+42T>G (n.456+42T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.128398372A>TCA2579011683IMPDH1c.966+42T>A (n.966+42T>A)
n.949+42T>A
c.1074+42T>A (n.1074+42T>A)
c.706+42T>A
c.1044+42T>A (n.1044+42T>A)
c.975+42T>A (n.975+42T>A)
c.839+42T>A
c.816+42T>A (n.816+42T>A)
c.804+42T>A (n.804+42T>A)
c.949+42T>A (n.949+42T>A)
c.744+42T>A (n.744+42T>A)
c.819+42T>A (n.819+42T>A)
c.867+42T>A (n.867+42T>A)
c.843+42T>A (n.843+42T>A)
c.456+42T>A (n.456+42T>A)
7g.128398373C>TCA2684777434IMPDH1c.966+41G>A (n.966+41G>A)
n.949+41G>A
c.1074+41G>A (n.1074+41G>A)
c.706+41G>A
c.1044+41G>A (n.1044+41G>A)
c.975+41G>A (n.975+41G>A)
c.839+41G>A
c.816+41G>A (n.816+41G>A)
c.804+41G>A (n.804+41G>A)
c.949+41G>A (n.949+41G>A)
c.744+41G>A (n.744+41G>A)
c.819+41G>A (n.819+41G>A)
c.867+41G>A (n.867+41G>A)
c.843+41G>A (n.843+41G>A)
c.456+41G>A (n.456+41G>A)
gnomAD v4
7g.128398374C>ACA2684777436IMPDH1c.966+40G>T (n.966+40G>T)
n.949+40G>T
c.1074+40G>T (n.1074+40G>T)
c.706+40G>T
c.1044+40G>T (n.1044+40G>T)
c.975+40G>T (n.975+40G>T)
c.839+40G>T
c.816+40G>T (n.816+40G>T)
c.804+40G>T (n.804+40G>T)
c.949+40G>T (n.949+40G>T)
c.744+40G>T (n.744+40G>T)
c.819+40G>T (n.819+40G>T)
c.867+40G>T (n.867+40G>T)
c.843+40G>T (n.843+40G>T)
c.456+40G>T (n.456+40G>T)
gnomAD v4
7g.128398374C>TCA2684777435IMPDH1c.966+40G>A (n.966+40G>A)
n.949+40G>A
c.1074+40G>A (n.1074+40G>A)
c.706+40G>A
c.1044+40G>A (n.1044+40G>A)
c.975+40G>A (n.975+40G>A)
c.839+40G>A
c.816+40G>A (n.816+40G>A)
c.804+40G>A (n.804+40G>A)
c.949+40G>A (n.949+40G>A)
c.744+40G>A (n.744+40G>A)
c.819+40G>A (n.819+40G>A)
c.867+40G>A (n.867+40G>A)
c.843+40G>A (n.843+40G>A)
c.456+40G>A (n.456+40G>A)
gnomAD v4
7g.128398376C>GCA2777839018IMPDH1c.966+38G>C (n.966+38G>C)
n.949+38G>C
c.1074+38G>C (n.1074+38G>C)
c.706+38G>C
c.1044+38G>C (n.1044+38G>C)
c.975+38G>C (n.975+38G>C)
c.839+38G>C
c.816+38G>C (n.816+38G>C)
c.804+38G>C (n.804+38G>C)
c.949+38G>C (n.949+38G>C)
c.744+38G>C (n.744+38G>C)
c.819+38G>C (n.819+38G>C)
c.867+38G>C (n.867+38G>C)
c.843+38G>C (n.843+38G>C)
c.456+38G>C (n.456+38G>C)
7g.128398376C>TCA2684777437IMPDH1c.966+38G>A (n.966+38G>A)
n.949+38G>A
c.1074+38G>A (n.1074+38G>A)
c.706+38G>A
c.1044+38G>A (n.1044+38G>A)
c.975+38G>A (n.975+38G>A)
c.839+38G>A
c.816+38G>A (n.816+38G>A)
c.804+38G>A (n.804+38G>A)
c.949+38G>A (n.949+38G>A)
c.744+38G>A (n.744+38G>A)
c.819+38G>A (n.819+38G>A)
c.867+38G>A (n.867+38G>A)
c.843+38G>A (n.843+38G>A)
c.456+38G>A (n.456+38G>A)
gnomAD v4
7g.128398377T>CCA2684777438IMPDH1c.966+37A>G (n.966+37A>G)
n.949+37A>G
c.1074+37A>G (n.1074+37A>G)
c.706+37A>G
c.1044+37A>G (n.1044+37A>G)
c.975+37A>G (n.975+37A>G)
c.839+37A>G
c.816+37A>G (n.816+37A>G)
c.804+37A>G (n.804+37A>G)
c.949+37A>G (n.949+37A>G)
c.744+37A>G (n.744+37A>G)
c.819+37A>G (n.819+37A>G)
c.867+37A>G (n.867+37A>G)
c.843+37A>G (n.843+37A>G)
c.456+37A>G (n.456+37A>G)
gnomAD v4
7g.128398378C>ACA2684777439IMPDH1c.966+36G>T (n.966+36G>T)
n.949+36G>T
c.1074+36G>T (n.1074+36G>T)
c.706+36G>T
c.1044+36G>T (n.1044+36G>T)
c.975+36G>T (n.975+36G>T)
c.839+36G>T
c.816+36G>T (n.816+36G>T)
c.804+36G>T (n.804+36G>T)
c.949+36G>T (n.949+36G>T)
c.744+36G>T (n.744+36G>T)
c.819+36G>T (n.819+36G>T)
c.867+36G>T (n.867+36G>T)
c.843+36G>T (n.843+36G>T)
c.456+36G>T (n.456+36G>T)
gnomAD v4
7g.128398380T>CCA1742366333IMPDH1c.966+34A>G (n.966+34A>G)
n.949+34A>G
c.1074+34A>G (n.1074+34A>G)
c.706+34A>G
c.1044+34A>G (n.1044+34A>G)
c.975+34A>G (n.975+34A>G)
c.839+34A>G
c.816+34A>G (n.816+34A>G)
c.804+34A>G (n.804+34A>G)
c.949+34A>G (n.949+34A>G)
c.744+34A>G (n.744+34A>G)
c.819+34A>G (n.819+34A>G)
c.867+34A>G (n.867+34A>G)
c.843+34A>G (n.843+34A>G)
c.456+34A>G (n.456+34A>G)
dbSNP gnomAD v4
7g.128398380T=CA1742366332IMPDH1c.966+34A= (n.966+34A=)
n.949+34A=
c.1074+34A= (n.1074+34A=)
c.706+34A=
c.1044+34A= (n.1044+34A=)
c.975+34A= (n.975+34A=)
c.839+34A=
c.816+34A= (n.816+34A=)
c.804+34A= (n.804+34A=)
c.949+34A= (n.949+34A=)
c.744+34A= (n.744+34A=)
c.819+34A= (n.819+34A=)
c.867+34A= (n.867+34A=)
c.843+34A= (n.843+34A=)
c.456+34A= (n.456+34A=)
7g.128398380_128398381dupCA2777839019IMPDH1c.966+33_966+34dup (n.966+33_966+34dup)
n.949+33_949+34dup
c.1074+33_1074+34dup (n.1074+33_1074+34dup)
c.706+33_706+34dup
c.1044+33_1044+34dup (n.1044+33_1044+34dup)
c.975+33_975+34dup (n.975+33_975+34dup)
c.839+33_839+34dup
c.816+33_816+34dup (n.816+33_816+34dup)
c.804+33_804+34dup (n.804+33_804+34dup)
c.949+33_949+34dup (n.949+33_949+34dup)
c.744+33_744+34dup (n.744+33_744+34dup)
c.819+33_819+34dup (n.819+33_819+34dup)
c.867+33_867+34dup (n.867+33_867+34dup)
c.843+33_843+34dup (n.843+33_843+34dup)
c.456+33_456+34dup (n.456+33_456+34dup)
7g.128398381C>TCA2579011684IMPDH1c.966+33G>A (n.966+33G>A)
n.949+33G>A
c.1074+33G>A (n.1074+33G>A)
c.706+33G>A
c.1044+33G>A (n.1044+33G>A)
c.975+33G>A (n.975+33G>A)
c.839+33G>A
c.816+33G>A (n.816+33G>A)
c.804+33G>A (n.804+33G>A)
c.949+33G>A (n.949+33G>A)
c.744+33G>A (n.744+33G>A)
c.819+33G>A (n.819+33G>A)
c.867+33G>A (n.867+33G>A)
c.843+33G>A (n.843+33G>A)
c.456+33G>A (n.456+33G>A)
7g.128398382C>ACA2684777440IMPDH1c.966+32G>T (n.966+32G>T)
n.949+32G>T
c.1074+32G>T (n.1074+32G>T)
c.706+32G>T
c.1044+32G>T (n.1044+32G>T)
c.975+32G>T (n.975+32G>T)
c.839+32G>T
c.816+32G>T (n.816+32G>T)
c.804+32G>T (n.804+32G>T)
c.949+32G>T (n.949+32G>T)
c.744+32G>T (n.744+32G>T)
c.819+32G>T (n.819+32G>T)
c.867+32G>T (n.867+32G>T)
c.843+32G>T (n.843+32G>T)
c.456+32G>T (n.456+32G>T)
gnomAD v4
7g.128398382C=CA1742366334IMPDH1c.966+32G= (n.966+32G=)
n.949+32G=
c.1074+32G= (n.1074+32G=)
c.706+32G=
c.1044+32G= (n.1044+32G=)
c.975+32G= (n.975+32G=)
c.839+32G=
c.816+32G= (n.816+32G=)
c.804+32G= (n.804+32G=)
c.949+32G= (n.949+32G=)
c.744+32G= (n.744+32G=)
c.819+32G= (n.819+32G=)
c.867+32G= (n.867+32G=)
c.843+32G= (n.843+32G=)
c.456+32G= (n.456+32G=)
7g.128398382C>TCA166125932IMPDH1c.966+32G>A (n.966+32G>A)
n.949+32G>A
c.1074+32G>A (n.1074+32G>A)
c.706+32G>A
c.1044+32G>A (n.1044+32G>A)
c.975+32G>A (n.975+32G>A)
c.839+32G>A
c.816+32G>A (n.816+32G>A)
c.804+32G>A (n.804+32G>A)
c.949+32G>A (n.949+32G>A)
c.744+32G>A (n.744+32G>A)
c.819+32G>A (n.819+32G>A)
c.867+32G>A (n.867+32G>A)
c.843+32G>A (n.843+32G>A)
c.456+32G>A (n.456+32G>A)
dbSNP
7g.128398383A=CA1742366335IMPDH1c.966+31T= (n.966+31T=)
n.949+31T=
c.1074+31T= (n.1074+31T=)
c.706+31T=
c.1044+31T= (n.1044+31T=)
c.975+31T= (n.975+31T=)
c.839+31T=
c.816+31T= (n.816+31T=)
c.804+31T= (n.804+31T=)
c.949+31T= (n.949+31T=)
c.744+31T= (n.744+31T=)
c.819+31T= (n.819+31T=)
c.867+31T= (n.867+31T=)
c.843+31T= (n.843+31T=)
c.456+31T= (n.456+31T=)
7g.128398383A>CCA577707314IMPDH1c.966+31T>G (n.966+31T>G)
n.949+31T>G
c.1074+31T>G (n.1074+31T>G)
c.706+31T>G
c.1044+31T>G (n.1044+31T>G)
c.975+31T>G (n.975+31T>G)
c.839+31T>G
c.816+31T>G (n.816+31T>G)
c.804+31T>G (n.804+31T>G)
c.949+31T>G (n.949+31T>G)
c.744+31T>G (n.744+31T>G)
c.819+31T>G (n.819+31T>G)
c.867+31T>G (n.867+31T>G)
c.843+31T>G (n.843+31T>G)
c.456+31T>G (n.456+31T>G)
dbSNP gnomAD v2 gnomAD v4
7g.128398383A>GCA2684777441IMPDH1c.966+31T>C (n.966+31T>C)
n.949+31T>C
c.1074+31T>C (n.1074+31T>C)
c.706+31T>C
c.1044+31T>C (n.1044+31T>C)
c.975+31T>C (n.975+31T>C)
c.839+31T>C
c.816+31T>C (n.816+31T>C)
c.804+31T>C (n.804+31T>C)
c.949+31T>C (n.949+31T>C)
c.744+31T>C (n.744+31T>C)
c.819+31T>C (n.819+31T>C)
c.867+31T>C (n.867+31T>C)
c.843+31T>C (n.843+31T>C)
c.456+31T>C (n.456+31T>C)
gnomAD v4
7g.128398384T>ACA2715807741IMPDH1c.966+30A>T (n.966+30A>T)
n.949+30A>T
c.1074+30A>T (n.1074+30A>T)
c.706+30A>T
c.1044+30A>T (n.1044+30A>T)
c.975+30A>T (n.975+30A>T)
c.839+30A>T
c.816+30A>T (n.816+30A>T)
c.804+30A>T (n.804+30A>T)
c.949+30A>T (n.949+30A>T)
c.744+30A>T (n.744+30A>T)
c.819+30A>T (n.819+30A>T)
c.867+30A>T (n.867+30A>T)
c.843+30A>T (n.843+30A>T)
c.456+30A>T (n.456+30A>T)
dbSNP
7g.128398385C>ACA2684777443IMPDH1c.966+29G>T (n.966+29G>T)
n.949+29G>T
c.1074+29G>T (n.1074+29G>T)
c.706+29G>T
c.1044+29G>T (n.1044+29G>T)
c.975+29G>T (n.975+29G>T)
c.839+29G>T
c.816+29G>T (n.816+29G>T)
c.804+29G>T (n.804+29G>T)
c.949+29G>T (n.949+29G>T)
c.744+29G>T (n.744+29G>T)
c.819+29G>T (n.819+29G>T)
c.867+29G>T (n.867+29G>T)
c.843+29G>T (n.843+29G>T)
c.456+29G>T (n.456+29G>T)
gnomAD v4
7g.128398385C=CA1742366337IMPDH1c.966+29G= (n.966+29G=)
n.949+29G=
c.1074+29G= (n.1074+29G=)
c.706+29G=
c.1044+29G= (n.1044+29G=)
c.975+29G= (n.975+29G=)
c.839+29G=
c.816+29G= (n.816+29G=)
c.804+29G= (n.804+29G=)
c.949+29G= (n.949+29G=)
c.744+29G= (n.744+29G=)
c.819+29G= (n.819+29G=)
c.867+29G= (n.867+29G=)
c.843+29G= (n.843+29G=)
c.456+29G= (n.456+29G=)
7g.128398385C>GCA2777839021IMPDH1c.966+29G>C (n.966+29G>C)
n.949+29G>C
c.1074+29G>C (n.1074+29G>C)
c.706+29G>C
c.1044+29G>C (n.1044+29G>C)
c.975+29G>C (n.975+29G>C)
c.839+29G>C
c.816+29G>C (n.816+29G>C)
c.804+29G>C (n.804+29G>C)
c.949+29G>C (n.949+29G>C)
c.744+29G>C (n.744+29G>C)
c.819+29G>C (n.819+29G>C)
c.867+29G>C (n.867+29G>C)
c.843+29G>C (n.843+29G>C)
c.456+29G>C (n.456+29G>C)
7g.128398385C>TCA833100352IMPDH1c.966+29G>A (n.966+29G>A)
n.949+29G>A
c.1074+29G>A (n.1074+29G>A)
c.706+29G>A
c.1044+29G>A (n.1044+29G>A)
c.975+29G>A (n.975+29G>A)
c.839+29G>A
c.816+29G>A (n.816+29G>A)
c.804+29G>A (n.804+29G>A)
c.949+29G>A (n.949+29G>A)
c.744+29G>A (n.744+29G>A)
c.819+29G>A (n.819+29G>A)
c.867+29G>A (n.867+29G>A)
c.843+29G>A (n.843+29G>A)
c.456+29G>A (n.456+29G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.128398387_128398410delCA2684777442IMPDH1c.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
7g.128398386T>CCA4470961IMPDH1c.966+28A>G (n.966+28A>G)
n.949+28A>G
c.1074+28A>G (n.1074+28A>G)
c.706+28A>G
c.1044+28A>G (n.1044+28A>G)
c.975+28A>G (n.975+28A>G)
c.839+28A>G
c.816+28A>G (n.816+28A>G)
c.804+28A>G (n.804+28A>G)
c.949+28A>G (n.949+28A>G)
c.744+28A>G (n.744+28A>G)
c.819+28A>G (n.819+28A>G)
c.867+28A>G (n.867+28A>G)
c.843+28A>G (n.843+28A>G)
c.456+28A>G (n.456+28A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128398386T=CA1742366340IMPDH1c.966+28A= (n.966+28A=)
n.949+28A=
c.1074+28A= (n.1074+28A=)
c.706+28A=
c.1044+28A= (n.1044+28A=)
c.975+28A= (n.975+28A=)
c.839+28A=
c.816+28A= (n.816+28A=)
c.804+28A= (n.804+28A=)
c.949+28A= (n.949+28A=)
c.744+28A= (n.744+28A=)
c.819+28A= (n.819+28A=)
c.867+28A= (n.867+28A=)
c.843+28A= (n.843+28A=)
c.456+28A= (n.456+28A=)
7g.128398387C>GCA2684777448IMPDH1c.966+27G>C (n.966+27G>C)
n.949+27G>C
c.1074+27G>C (n.1074+27G>C)
c.706+27G>C
c.1044+27G>C (n.1044+27G>C)
c.975+27G>C (n.975+27G>C)
c.839+27G>C
c.816+27G>C (n.816+27G>C)
c.804+27G>C (n.804+27G>C)
c.949+27G>C (n.949+27G>C)
c.744+27G>C (n.744+27G>C)
c.819+27G>C (n.819+27G>C)
c.867+27G>C (n.867+27G>C)
c.843+27G>C (n.843+27G>C)
c.456+27G>C (n.456+27G>C)
gnomAD v4
7g.128398387C>TCA2684777446IMPDH1c.966+27G>A (n.966+27G>A)
n.949+27G>A
c.1074+27G>A (n.1074+27G>A)
c.706+27G>A
c.1044+27G>A (n.1044+27G>A)
c.975+27G>A (n.975+27G>A)
c.839+27G>A
c.816+27G>A (n.816+27G>A)
c.804+27G>A (n.804+27G>A)
c.949+27G>A (n.949+27G>A)
c.744+27G>A (n.744+27G>A)
c.819+27G>A (n.819+27G>A)
c.867+27G>A (n.867+27G>A)
c.843+27G>A (n.843+27G>A)
c.456+27G>A (n.456+27G>A)
gnomAD v4
7g.128398391dupCA577707315IMPDH1c.966+27dup (n.966+27dup)
n.949+27dup
c.1074+27dup (n.1074+27dup)
c.706+27dup
c.1044+27dup (n.1044+27dup)
c.975+27dup (n.975+27dup)
c.839+27dup
c.816+27dup (n.816+27dup)
c.804+27dup (n.804+27dup)
c.949+27dup (n.949+27dup)
c.744+27dup (n.744+27dup)
c.819+27dup (n.819+27dup)
c.867+27dup (n.867+27dup)
c.843+27dup (n.843+27dup)
c.456+27dup (n.456+27dup)
dbSNP gnomAD v2 gnomAD v4
7g.128398391delCA2684777445IMPDH1c.966+27del (n.966+27del)
n.949+27del
c.1074+27del (n.1074+27del)
c.706+27del
c.1044+27del (n.1044+27del)
c.975+27del (n.975+27del)
c.839+27del
c.816+27del (n.816+27del)
c.804+27del (n.804+27del)
c.949+27del (n.949+27del)
c.744+27del (n.744+27del)
c.819+27del (n.819+27del)
c.867+27del (n.867+27del)
c.843+27del (n.843+27del)
c.456+27del (n.456+27del)
gnomAD v4
7g.128398388C=CA1742366344IMPDH1c.966+26G= (n.966+26G=)
n.949+26G=
c.1074+26G= (n.1074+26G=)
c.706+26G=
c.1044+26G= (n.1044+26G=)
c.975+26G= (n.975+26G=)
c.839+26G=
c.816+26G= (n.816+26G=)
c.804+26G= (n.804+26G=)
c.949+26G= (n.949+26G=)
c.744+26G= (n.744+26G=)
c.819+26G= (n.819+26G=)
c.867+26G= (n.867+26G=)
c.843+26G= (n.843+26G=)
c.456+26G= (n.456+26G=)
7g.128398388C>GCA4470962IMPDH1c.966+26G>C (n.966+26G>C)
n.949+26G>C
c.1074+26G>C (n.1074+26G>C)
c.706+26G>C
c.1044+26G>C (n.1044+26G>C)
c.975+26G>C (n.975+26G>C)
c.839+26G>C
c.816+26G>C (n.816+26G>C)
c.804+26G>C (n.804+26G>C)
c.949+26G>C (n.949+26G>C)
c.744+26G>C (n.744+26G>C)
c.819+26G>C (n.819+26G>C)
c.867+26G>C (n.867+26G>C)
c.843+26G>C (n.843+26G>C)
c.456+26G>C (n.456+26G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.128398389C>GCA2684777450IMPDH1c.966+25G>C (n.966+25G>C)
n.949+25G>C
c.1074+25G>C (n.1074+25G>C)
c.706+25G>C
c.1044+25G>C (n.1044+25G>C)
c.975+25G>C (n.975+25G>C)
c.839+25G>C
c.816+25G>C (n.816+25G>C)
c.804+25G>C (n.804+25G>C)
c.949+25G>C (n.949+25G>C)
c.744+25G>C (n.744+25G>C)
c.819+25G>C (n.819+25G>C)
c.867+25G>C (n.867+25G>C)
c.843+25G>C (n.843+25G>C)
c.456+25G>C (n.456+25G>C)
gnomAD v4
7g.128398390C>ACA2684777451IMPDH1c.966+24G>T (n.966+24G>T)
n.949+24G>T
c.1074+24G>T (n.1074+24G>T)
c.706+24G>T
c.1044+24G>T (n.1044+24G>T)
c.975+24G>T (n.975+24G>T)
c.839+24G>T
c.816+24G>T (n.816+24G>T)
c.804+24G>T (n.804+24G>T)
c.949+24G>T (n.949+24G>T)
c.744+24G>T (n.744+24G>T)
c.819+24G>T (n.819+24G>T)
c.867+24G>T (n.867+24G>T)
c.843+24G>T (n.843+24G>T)
c.456+24G>T (n.456+24G>T)
gnomAD v4
7g.128398390C=CA1742366346IMPDH1c.966+24G= (n.966+24G=)
n.949+24G=
c.1074+24G= (n.1074+24G=)
c.706+24G=
c.1044+24G= (n.1044+24G=)
c.975+24G= (n.975+24G=)
c.839+24G=
c.816+24G= (n.816+24G=)
c.804+24G= (n.804+24G=)
c.949+24G= (n.949+24G=)
c.744+24G= (n.744+24G=)
c.819+24G= (n.819+24G=)
c.867+24G= (n.867+24G=)
c.843+24G= (n.843+24G=)
c.456+24G= (n.456+24G=)
7g.128398390C>GCA577707316IMPDH1c.966+24G>C (n.966+24G>C)
n.949+24G>C
c.1074+24G>C (n.1074+24G>C)
c.706+24G>C
c.1044+24G>C (n.1044+24G>C)
c.975+24G>C (n.975+24G>C)
c.839+24G>C
c.816+24G>C (n.816+24G>C)
c.804+24G>C (n.804+24G>C)
c.949+24G>C (n.949+24G>C)
c.744+24G>C (n.744+24G>C)
c.819+24G>C (n.819+24G>C)
c.867+24G>C (n.867+24G>C)
c.843+24G>C (n.843+24G>C)
c.456+24G>C (n.456+24G>C)
dbSNP gnomAD v2 gnomAD v4
7g.128398391C>ACA166125943IMPDH1c.966+23G>T (n.966+23G>T)
n.949+23G>T
c.1074+23G>T (n.1074+23G>T)
c.706+23G>T
c.1044+23G>T (n.1044+23G>T)
c.975+23G>T (n.975+23G>T)
c.839+23G>T
c.816+23G>T (n.816+23G>T)
c.804+23G>T (n.804+23G>T)
c.949+23G>T (n.949+23G>T)
c.744+23G>T (n.744+23G>T)
c.819+23G>T (n.819+23G>T)
c.867+23G>T (n.867+23G>T)
c.843+23G>T (n.843+23G>T)
c.456+23G>T (n.456+23G>T)
dbSNP gnomAD v4
7g.128398391C=CA1742366349IMPDH1c.966+23G= (n.966+23G=)
n.949+23G=
c.1074+23G= (n.1074+23G=)
c.706+23G=
c.1044+23G= (n.1044+23G=)
c.975+23G= (n.975+23G=)
c.839+23G=
c.816+23G= (n.816+23G=)
c.804+23G= (n.804+23G=)
c.949+23G= (n.949+23G=)
c.744+23G= (n.744+23G=)
c.819+23G= (n.819+23G=)
c.867+23G= (n.867+23G=)
c.843+23G= (n.843+23G=)
c.456+23G= (n.456+23G=)
7g.128398391C>GCA2684777455IMPDH1c.966+23G>C (n.966+23G>C)
n.949+23G>C
c.1074+23G>C (n.1074+23G>C)
c.706+23G>C
c.1044+23G>C (n.1044+23G>C)
c.975+23G>C (n.975+23G>C)
c.839+23G>C
c.816+23G>C (n.816+23G>C)
c.804+23G>C (n.804+23G>C)
c.949+23G>C (n.949+23G>C)
c.744+23G>C (n.744+23G>C)
c.819+23G>C (n.819+23G>C)
c.867+23G>C (n.867+23G>C)
c.843+23G>C (n.843+23G>C)
c.456+23G>C (n.456+23G>C)
gnomAD v4
7g.128398391C>TCA2684777456IMPDH1c.966+23G>A (n.966+23G>A)
n.949+23G>A
c.1074+23G>A (n.1074+23G>A)
c.706+23G>A
c.1044+23G>A (n.1044+23G>A)
c.975+23G>A (n.975+23G>A)
c.839+23G>A
c.816+23G>A (n.816+23G>A)
c.804+23G>A (n.804+23G>A)
c.949+23G>A (n.949+23G>A)
c.744+23G>A (n.744+23G>A)
c.819+23G>A (n.819+23G>A)
c.867+23G>A (n.867+23G>A)
c.843+23G>A (n.843+23G>A)
c.456+23G>A (n.456+23G>A)
gnomAD v4
7g.128398392A>GCA2684777457IMPDH1c.966+22T>C (n.966+22T>C)
n.949+22T>C
c.1074+22T>C (n.1074+22T>C)
c.706+22T>C
c.1044+22T>C (n.1044+22T>C)
c.975+22T>C (n.975+22T>C)
c.839+22T>C
c.816+22T>C (n.816+22T>C)
c.804+22T>C (n.804+22T>C)
c.949+22T>C (n.949+22T>C)
c.744+22T>C (n.744+22T>C)
c.819+22T>C (n.819+22T>C)
c.867+22T>C (n.867+22T>C)
c.843+22T>C (n.843+22T>C)
c.456+22T>C (n.456+22T>C)
gnomAD v4
7g.128398393C>GCA2684777458IMPDH1c.966+21G>C (n.966+21G>C)
n.949+21G>C
c.1074+21G>C (n.1074+21G>C)
c.706+21G>C
c.1044+21G>C (n.1044+21G>C)
c.975+21G>C (n.975+21G>C)
c.839+21G>C
c.816+21G>C (n.816+21G>C)
c.804+21G>C (n.804+21G>C)
c.949+21G>C (n.949+21G>C)
c.744+21G>C (n.744+21G>C)
c.819+21G>C (n.819+21G>C)
c.867+21G>C (n.867+21G>C)
c.843+21G>C (n.843+21G>C)
c.456+21G>C (n.456+21G>C)
gnomAD v4
7g.128398394C=CA1742366352IMPDH1c.966+20G= (n.966+20G=)
n.949+20G=
c.1074+20G= (n.1074+20G=)
c.706+20G=
c.1044+20G= (n.1044+20G=)
c.975+20G= (n.975+20G=)
c.839+20G=
c.816+20G= (n.816+20G=)
c.804+20G= (n.804+20G=)
c.949+20G= (n.949+20G=)
c.744+20G= (n.744+20G=)
c.819+20G= (n.819+20G=)
c.867+20G= (n.867+20G=)
c.843+20G= (n.843+20G=)
c.456+20G= (n.456+20G=)
7g.128398394C>TCA577707317IMPDH1c.966+20G>A (n.966+20G>A)
n.949+20G>A
c.1074+20G>A (n.1074+20G>A)
c.706+20G>A
c.1044+20G>A (n.1044+20G>A)
c.975+20G>A (n.975+20G>A)
c.839+20G>A
c.816+20G>A (n.816+20G>A)
c.804+20G>A (n.804+20G>A)
c.949+20G>A (n.949+20G>A)
c.744+20G>A (n.744+20G>A)
c.819+20G>A (n.819+20G>A)
c.867+20G>A (n.867+20G>A)
c.843+20G>A (n.843+20G>A)
c.456+20G>A (n.456+20G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.128398395A>CCA2777839022IMPDH1c.966+19T>G (n.966+19T>G)
n.949+19T>G
c.1074+19T>G (n.1074+19T>G)
c.706+19T>G
c.1044+19T>G (n.1044+19T>G)
c.975+19T>G (n.975+19T>G)
c.839+19T>G
c.816+19T>G (n.816+19T>G)
c.804+19T>G (n.804+19T>G)
c.949+19T>G (n.949+19T>G)
c.744+19T>G (n.744+19T>G)
c.819+19T>G (n.819+19T>G)
c.867+19T>G (n.867+19T>G)
c.843+19T>G (n.843+19T>G)
c.456+19T>G (n.456+19T>G)
7g.128398396C=CA1742366356IMPDH1c.966+18G= (n.966+18G=)
n.949+18G=
c.1074+18G= (n.1074+18G=)
c.706+18G=
c.1044+18G= (n.1044+18G=)
c.975+18G= (n.975+18G=)
c.839+18G=
c.816+18G= (n.816+18G=)
c.804+18G= (n.804+18G=)
c.949+18G= (n.949+18G=)
c.744+18G= (n.744+18G=)
c.819+18G= (n.819+18G=)
c.867+18G= (n.867+18G=)
c.843+18G= (n.843+18G=)
c.456+18G= (n.456+18G=)
7g.128398396C>TCA4470963IMPDH1c.966+18G>A (n.966+18G>A)
n.949+18G>A
c.1074+18G>A (n.1074+18G>A)
c.706+18G>A
c.1044+18G>A (n.1044+18G>A)
c.975+18G>A (n.975+18G>A)
c.839+18G>A
c.816+18G>A (n.816+18G>A)
c.804+18G>A (n.804+18G>A)
c.949+18G>A (n.949+18G>A)
c.744+18G>A (n.744+18G>A)
c.819+18G>A (n.819+18G>A)
c.867+18G>A (n.867+18G>A)
c.843+18G>A (n.843+18G>A)
c.456+18G>A (n.456+18G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128398397T>GCA2684777459IMPDH1c.966+17A>C (n.966+17A>C)
n.949+17A>C
c.1074+17A>C (n.1074+17A>C)
c.706+17A>C
c.1044+17A>C (n.1044+17A>C)
c.975+17A>C (n.975+17A>C)
c.839+17A>C
c.816+17A>C (n.816+17A>C)
c.804+17A>C (n.804+17A>C)
c.949+17A>C (n.949+17A>C)
c.744+17A>C (n.744+17A>C)
c.819+17A>C (n.819+17A>C)
c.867+17A>C (n.867+17A>C)
c.843+17A>C (n.843+17A>C)
c.456+17A>C (n.456+17A>C)
gnomAD v4
7g.128398398C>ACA2684777460IMPDH1c.966+16G>T (n.966+16G>T)
n.949+16G>T
c.1074+16G>T (n.1074+16G>T)
c.706+16G>T
c.1044+16G>T (n.1044+16G>T)
c.975+16G>T (n.975+16G>T)
c.839+16G>T
c.816+16G>T (n.816+16G>T)
c.804+16G>T (n.804+16G>T)
c.949+16G>T (n.949+16G>T)
c.744+16G>T (n.744+16G>T)
c.819+16G>T (n.819+16G>T)
c.867+16G>T (n.867+16G>T)
c.843+16G>T (n.843+16G>T)
c.456+16G>T (n.456+16G>T)
gnomAD v4
7g.128398398C>GCA2579011689IMPDH1c.966+16G>C (n.966+16G>C)
n.949+16G>C
c.1074+16G>C (n.1074+16G>C)
c.706+16G>C
c.1044+16G>C (n.1044+16G>C)
c.975+16G>C (n.975+16G>C)
c.839+16G>C
c.816+16G>C (n.816+16G>C)
c.804+16G>C (n.804+16G>C)
c.949+16G>C (n.949+16G>C)
c.744+16G>C (n.744+16G>C)
c.819+16G>C (n.819+16G>C)
c.867+16G>C (n.867+16G>C)
c.843+16G>C (n.843+16G>C)
c.456+16G>C (n.456+16G>C)
7g.128398399A>CCA2684777461IMPDH1c.966+15T>G (n.966+15T>G)
n.949+15T>G
c.1074+15T>G (n.1074+15T>G)
c.706+15T>G
c.1044+15T>G (n.1044+15T>G)
c.975+15T>G (n.975+15T>G)
c.839+15T>G
c.816+15T>G (n.816+15T>G)
c.804+15T>G (n.804+15T>G)
c.949+15T>G (n.949+15T>G)
c.744+15T>G (n.744+15T>G)
c.819+15T>G (n.819+15T>G)
c.867+15T>G (n.867+15T>G)
c.843+15T>G (n.843+15T>G)
c.456+15T>G (n.456+15T>G)
gnomAD v4
7g.128398399_128398402delinsAGGCCA1742366360IMPDH1c.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)
7g.128398400G>TCA2579011691IMPDH1c.966+14C>A (n.966+14C>A)
n.949+14C>A
c.1074+14C>A (n.1074+14C>A)
c.706+14C>A
c.1044+14C>A (n.1044+14C>A)
c.975+14C>A (n.975+14C>A)
c.839+14C>A
c.816+14C>A (n.816+14C>A)
c.804+14C>A (n.804+14C>A)
c.949+14C>A (n.949+14C>A)
c.744+14C>A (n.744+14C>A)
c.819+14C>A (n.819+14C>A)
c.867+14C>A (n.867+14C>A)
c.843+14C>A (n.843+14C>A)
c.456+14C>A (n.456+14C>A)
7g.128398402_128398404delCA4470964IMPDH1c.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
7g.128398401G>TCA2684777463IMPDH1c.966+13C>A (n.966+13C>A)
n.949+13C>A
c.1074+13C>A (n.1074+13C>A)
c.706+13C>A
c.1044+13C>A (n.1044+13C>A)
c.975+13C>A (n.975+13C>A)
c.839+13C>A
c.816+13C>A (n.816+13C>A)
c.804+13C>A (n.804+13C>A)
c.949+13C>A (n.949+13C>A)
c.744+13C>A (n.744+13C>A)
c.819+13C>A (n.819+13C>A)
c.867+13C>A (n.867+13C>A)
c.843+13C>A (n.843+13C>A)
c.456+13C>A (n.456+13C>A)
gnomAD v4
7g.128398402delCA2579011693IMPDH1c.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)
7g.128398402C=CA1742366362IMPDH1c.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=)
7g.128398402C>TCA166125953IMPDH1c.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
7g.128398403G>ACA4470965IMPDH1c.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
7g.128398403G=CA1742366365IMPDH1c.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=)
7g.128398403G>TCA2579011695IMPDH1c.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)
7g.128398407delCA2684777468IMPDH1c.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
7g.128398404G>ACA1742366374IMPDH1c.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
7g.128398404G>CCA577707318IMPDH1c.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
7g.128398404G=CA1742366402IMPDH1c.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=)
7g.128398404G>TCA1742366376IMPDH1c.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
7g.128398406G>ACA4470966IMPDH1c.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
7g.128398406G=CA1742366404IMPDH1c.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=)
7g.128398406G>TCA2579011698IMPDH1c.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)
7g.128398407G>ACA4470967IMPDH1c.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
7g.128398407G=CA1742366412IMPDH1c.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=)
7g.128398407_128398408delinsAACA200685IMPDH1c.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
7g.128398407_128398408delinsGCCA1742366414IMPDH1c.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)
7g.128398408C>ACA4470968IMPDH1c.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
7g.128398408C=CA1742366422IMPDH1c.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=)
7g.128398412A=CA1742366424IMPDH1c.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=)
7g.128398412A>CCA369167698IMPDH1c.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)
7g.128398412A>GCA369167714IMPDH1c.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
7g.128398412A>TCA369167705IMPDH1c.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)
7g.128398413C>ACA369167720IMPDH1c.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)
7g.128398413C=CA1742366428IMPDH1c.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=)
7g.128398413C>GCA369167724IMPDH1c.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)
7g.128398413C>TCA4470969IMPDH1c.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
7g.128398414C>ACA369167731IMPDH1c.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)
7g.128398414C=CA1742366431IMPDH1c.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=)
7g.128398414C>GCA369167732IMPDH1c.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
7g.128398414C>TCA457528146IMPDH1c.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=)
7g.128398415A>CCA369167733IMPDH1c.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)
7g.128398415A>GCA369167738IMPDH1c.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)
7g.128398415A>TCA369167748IMPDH1c.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)
7g.128398416A>CCA369167756IMPDH1c.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)
7g.128398416A>GCA457528147IMPDH1c.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=)
7g.128398416A>TCA369167766IMPDH1c.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)
7g.128398417G>ACA457528148IMPDH1c.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=)
7g.128398417G>CCA457528149IMPDH1c.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=)
7g.128398417G>TCA457528150IMPDH1c.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
7g.128398418A>CCA369167781IMPDH1c.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)
7g.128398418A>GCA369167785IMPDH1c.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)
7g.128398418A>TCA369167774IMPDH1c.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)
7g.128398419C>ACA369167790IMPDH1c.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)
7g.128398419C>GCA369167792IMPDH1c.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)
7g.128398419C>TCA369167796IMPDH1c.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)
7g.128398420T>ACA457528153IMPDH1c.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=)
7g.128398420T>CCA369167799IMPDH1c.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)
7g.128398420T>GCA457528152IMPDH1c.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=)
7g.128398421_128398422delCA2580076514IMPDH1c.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
7g.128398421A=CA1742366435IMPDH1c.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=)
7g.128398421A>CCA369167802IMPDH1c.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)
7g.128398421A>GCA369167805IMPDH1c.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
7g.128398421A>TCA369167808IMPDH1c.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)
7g.128398422T>ACA369167809IMPDH1c.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)
7g.128398422T>CCA369167810IMPDH1c.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
7g.128398422T>GCA369167811IMPDH1c.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)
7g.128398422T=CA1742366437IMPDH1c.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=)
7g.128398423G>ACA457528155IMPDH1c.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=)
7g.128398423G>CCA457528157IMPDH1c.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=)
7g.128398423G>TCA457528159IMPDH1c.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=)
7g.128398424A>CCA369167820IMPDH1c.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)
7g.128398424A>GCA369167822IMPDH1c.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)
7g.128398424A>TCA369167823IMPDH1c.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)
7g.128398425C>ACA369167840IMPDH1c.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)
7g.128398425C=CA1742366443IMPDH1c.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=)
7g.128398425C>GCA369167835IMPDH1c.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)
7g.128398425C>TCA4470970IMPDH1c.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
7g.128398426G>ACA166126011IMPDH1c.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
7g.128398426G>CCA369167845IMPDH1c.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)
7g.128398426G=CA1742366445IMPDH1c.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=)
7g.128398426G>TCA369167852IMPDH1c.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)
7g.128398427T>ACA369167857IMPDH1c.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)
7g.128398427T>CCA369167858IMPDH1c.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)
7g.128398427T>GCA369167859IMPDH1c.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)
7g.128398428C>ACA369167861IMPDH1c.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)
7g.128398428C=CA1742366457IMPDH1c.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=)
7g.128398428C>GCA369167863IMPDH1c.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)
7g.128398428C>TCA4470971IMPDH1c.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
7g.128398429G>ACA4470972IMPDH1c.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
7g.128398429G>CCA457528164IMPDH1c.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
7g.128398429G=CA1742366462IMPDH1c.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=)
7g.128398429G>TCA457528165IMPDH1c.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=)
7g.128398430A>CCA369167870IMPDH1c.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)
7g.128398430A>GCA369167871IMPDH1c.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)
7g.128398430A>TCA369167872IMPDH1c.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)
7g.128398431C>ACA369167877IMPDH1c.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)
7g.128398431C=CA1742366465IMPDH1c.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=)
7g.128398431C>GCA369167876IMPDH1c.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)
7g.128398431C>TCA257377IMPDH1c.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
7g.128398432G>ACA4470973IMPDH1c.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
7g.128398432G>CCA457528171IMPDH1c.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=)
7g.128398432G=CA1742366474IMPDH1c.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=)
7g.128398432G>TCA457528170IMPDH1c.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=)
7g.128398433C>ACA369167894IMPDH1c.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)
7g.128398433C>GCA369167888IMPDH1c.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)
7g.128398433C>TCA369167892IMPDH1c.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
7g.128398434C>ACA369167904IMPDH1c.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)
7g.128398434C>GCA369167911IMPDH1c.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
7g.128398434C>TCA369167930IMPDH1c.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
7g.128398435C>ACA457528174IMPDH1c.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=)
7g.128398435C=CA1742366481IMPDH1c.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=)
7g.128398435C>GCA457528175IMPDH1c.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=)
7g.128398435C>TCA166126031IMPDH1c.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
7g.128398436G>ACA4470974IMPDH1c.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
7g.128398436G>CCA369167947IMPDH1c.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)
7g.128398436G=CA1742366489IMPDH1c.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=)
7g.128398436G>TCA369167963IMPDH1c.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
7g.128398437C>ACA369167967IMPDH1c.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)
7g.128398437C>GCA369167969IMPDH1c.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)
7g.128398437C>TCA369167971IMPDH1c.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)
7g.128398438C>ACA369167978IMPDH1c.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)
7g.128398438C=CA1742366495IMPDH1c.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=)
7g.128398438C>GCA369167974IMPDH1c.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
7g.128398438C>TCA457528178IMPDH1c.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=)
7g.128398439T>ACA369167979IMPDH1c.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)
7g.128398439T>CCA369167991IMPDH1c.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)
7g.128398439T>GCA369167999IMPDH1c.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)
7g.128398440G>ACA369168007IMPDH1c.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
7g.128398440G>CCA369168011IMPDH1c.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
7g.128398440G=CA1742366496IMPDH1c.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=)
7g.128398440G>TCA369168019IMPDH1c.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
7g.128398441G>ACA457528182IMPDH1c.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
7g.128398441G>CCA457528180IMPDH1c.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=)
7g.128398441G=CA1742366499IMPDH1c.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=)
7g.128398441G>TCA457528181IMPDH1c.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
7g.128398442G>ACA4470975IMPDH1c.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
7g.128398442G>CCA369168038IMPDH1c.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)
7g.128398442G=CA1742366509IMPDH1c.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=)
7g.128398442G>TCA369168043IMPDH1c.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)
7g.128398443T>ACA369168055IMPDH1c.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)
7g.128398443T>CCA369168061IMPDH1c.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)
7g.128398443T>GCA369168069IMPDH1c.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)
7g.128398444G>ACA457528186IMPDH1c.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=)
7g.128398444G>CCA457528187IMPDH1c.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=)
7g.128398444G>TCA457528188IMPDH1c.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=)
7g.128398445A>CCA369168090IMPDH1c.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
7g.128398445A>GCA369168092IMPDH1c.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)
7g.128398445A>TCA369168078IMPDH1c.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)
7g.128398446G>ACA369168093IMPDH1c.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)
7g.128398446G>CCA369168094IMPDH1c.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)
7g.128398446G>TCA369168099IMPDH1c.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)
7g.128398447C>ACA457528190IMPDH1c.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=)
7g.128398447C>GCA457528191IMPDH1c.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=)
7g.128398447C>TCA457528192IMPDH1c.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=)
7g.128398448A>CCA369168103IMPDH1c.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
7g.128398448A>GCA369168110IMPDH1c.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)
7g.128398448A>TCA369168114IMPDH1c.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)
7g.128398449G>ACA457528194IMPDH1c.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=)
7g.128398449G>CCA369168117IMPDH1c.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
7g.128398449G=CA1742366516IMPDH1c.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=)
7g.128398449G>TCA369168120IMPDH1c.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)
7g.128398450G>ACA457528196IMPDH1c.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=)
7g.128398450G>CCA369168134IMPDH1c.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)
7g.128398450G>TCA369168140IMPDH1c.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)
7g.128398451T>ACA369168147IMPDH1c.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)
7g.128398451T>CCA369168152IMPDH1c.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
7g.128398451T>GCA369168158IMPDH1c.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)
7g.128398452C>ACA369168176IMPDH1c.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)
7g.128398452C>GCA369168174IMPDH1c.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)
7g.128398452C>TCA369168169IMPDH1c.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)
7g.128398453C>ACA457528200IMPDH1c.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=)
7g.128398453C>GCA457528202IMPDH1c.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=)
7g.128398453C>TCA457528204IMPDH1c.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=)
7g.128398454A>CCA369168185IMPDH1c.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)
7g.128398454A>GCA369168186IMPDH1c.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)
7g.128398454A>TCA369168189IMPDH1c.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)
7g.128398455G>ACA457528206IMPDH1c.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=)
7g.128398455G>CCA369168191IMPDH1c.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)
7g.128398455G>TCA369168195IMPDH1c.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
7g.128398456A>CCA457528207IMPDH1c.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=)
7g.128398456A>GCA457528208IMPDH1c.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
7g.128398456A>TCA457528210IMPDH1c.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=)
7g.128398457C>ACA369168205IMPDH1c.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)
7g.128398457C=CA1742366523IMPDH1c.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=)
7g.128398457C>GCA369168209IMPDH1c.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)
7g.128398457C>TCA369168218IMPDH1c.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
7g.128398458G>ACA4470976IMPDH1c.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
7g.128398458G>CCA369168245IMPDH1c.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)
7g.128398458G=CA1742366530IMPDH1c.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=)
7g.128398458G>TCA369168246IMPDH1c.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)
7g.128398459G>ACA457528212IMPDH1c.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
7g.128398459G>CCA369168250IMPDH1c.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)
7g.128398459G>TCA369168261IMPDH1c.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)
7g.128398460T>ACA369168277IMPDH1c.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)
7g.128398460T>CCA369168278IMPDH1c.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
7g.128398460T>GCA369168266IMPDH1c.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)
7g.128398461A=CA1742366539IMPDH1c.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=)
7g.128398461A>CCA369168299IMPDH1c.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)
7g.128398461A>GCA369168280IMPDH1c.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
7g.128398461A>TCA369168284IMPDH1c.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)
7g.128398462T>ACA369168308IMPDH1c.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)
7g.128398462T>CCA457528217IMPDH1c.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=)
7g.128398462T>GCA369168315IMPDH1c.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)
7g.128398463T>ACA369168325IMPDH1c.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)
7g.128398463T>CCA369168327IMPDH1c.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
7g.128398463T>GCA369168330IMPDH1c.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)
7g.128398464T>ACA369168334IMPDH1c.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)
7g.128398464T>CCA369168345IMPDH1c.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
7g.128398464T>GCA369168355IMPDH1c.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)
7g.128398465G>ACA457528219IMPDH1c.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=)
7g.128398465G>CCA369168369IMPDH1c.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)
7g.128398465G>TCA369168375IMPDH1c.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)
7g.128398466T>ACA369168391IMPDH1c.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)
7g.128398466T>CCA369168390IMPDH1c.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
7g.128398466T>GCA369168381IMPDH1c.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)
7g.128398467C>ACA369168400IMPDH1c.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
7g.128398467C>GCA369168404IMPDH1c.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)
7g.128398467C>TCA369168412IMPDH1c.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
7g.128398468A=CA1742366550IMPDH1c.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=)
7g.128398468A>CCA369168414IMPDH1c.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)
7g.128398468A>GCA457528223IMPDH1c.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
7g.128398468A>TCA369168415IMPDH1c.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)
7g.128398469T>ACA369168417IMPDH1c.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)
7g.128398469T>CCA369168419IMPDH1c.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)
7g.128398469T>GCA369168421IMPDH1c.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)

Number of alleles fetched