Variant | Impact | Inheritance pattern | Summary | Genomes |
---|---|---|---|---|
PNKP P20S | insufficiently evaluated not reviewed, f=0.009 | unknown | hu34D5B9 exome | |
CGI sample GS00253-DNA_F01_200_37 | ||||
CGI sample GS00253-DNA_C01_200_37 | ||||
PNKP R139H | insufficiently evaluated not reviewed | unknown | CGI sample GS01175-DNA_A04 from PGP sample 13272228 | |
PNKP T217S | insufficiently evaluated not reviewed, f=0.001 | unknown | var-GS18505-1100-36-ASM | |
PNKP T407P | insufficiently evaluated not reviewed, f=0.008 | unknown | var-GS18558-1100-36-ASM | |
PNKP A488V | insufficiently evaluated not reviewed, f=0.000 | unknown | var-GS18555-1100-36-ASM | |
PNKP R513W | insufficiently evaluated none | unknown | ||
Total results: 6 |