| | CTTN-DT, PPFIA1 (R1003Q +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC105369373, PPFIA1 (A274T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC105369373, PPFIA1 (M204I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (M1185L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC105369373, PPFIA1 (K162R) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC105369373, PPFIA1 (V220A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (M1182I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (R1190K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (R1172H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (T1166M +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (K1032N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (Y1029C +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (R1079G +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (A1023T +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | PPFIA1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | PPFIA1-related disorder | |
| | | Single nucleotide variant (intron variant) | PPFIA1-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | PPFIA1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | PPFIA1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | PPFIA1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | PPFIA1-related disorder | |
| | CTTN-DT, PPFIA1 (E970K +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (R1003G +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC105369373, PPFIA1 (P231T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CTTN-DT, PPFIA1 (K1143T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CTTN-DT, PPFIA1 (A991P +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (R1046C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (V1048L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (L1022P +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (N1071S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (M1182R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC105369373, PPFIA1 (T233M) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (T1021A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (T1021P +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (I1045R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC105369373, PPFIA1 (S242F) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (R1189T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CTTN-DT, PPFIA1 (R1172C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC105369373, PPFIA1 (S244R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC105369373, PPFIA1 (R264G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC105369373, PPFIA1 (D218G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |