| . | Mutated gene . | Position . | Amino acid change . | Zygosity . | Inheritance . | 1000 Genomes Minor Allele Frequency . |
|---|---|---|---|---|---|---|
| Confirmed mutation | KIF1B | CHR1: 10387567 | Y1087C | Heterozygote | Autosomal dominant | 0.0395 |
| Analyzed genes | AARS (601065), ATL1 (606439), DNM2 (602378), DNMT1 (126375), DYNC1H1 (600112), EGR2 (129010), FGD4 (611104), GARS (600287), GDAP1 (606598), GJB1 (304040), GLA (300644), HSPB1 (602195), HSPB8 (608014), KIF1B (605995), LITAF (603795), LMNA (150330), LRSAM1 (610933), MED25 (610197), MFN2 (608507), MPZ (159440), MTMR2 (603557), NDRG1 (605262), NEFL (162280), PMP22 (601097), PRX (605725), RAB7A (602298), SBF2 (607697), SCN9A (603415), SH3TC2 (608206), SPTLC2 (605713), TRPV4 (605427), TTR (176300), and YARS (603623) | |||||
| . | Mutated gene . | Position . | Amino acid change . | Zygosity . | Inheritance . | 1000 Genomes Minor Allele Frequency . |
|---|---|---|---|---|---|---|
| Confirmed mutation | KIF1B | CHR1: 10387567 | Y1087C | Heterozygote | Autosomal dominant | 0.0395 |
| Analyzed genes | AARS (601065), ATL1 (606439), DNM2 (602378), DNMT1 (126375), DYNC1H1 (600112), EGR2 (129010), FGD4 (611104), GARS (600287), GDAP1 (606598), GJB1 (304040), GLA (300644), HSPB1 (602195), HSPB8 (608014), KIF1B (605995), LITAF (603795), LMNA (150330), LRSAM1 (610933), MED25 (610197), MFN2 (608507), MPZ (159440), MTMR2 (603557), NDRG1 (605262), NEFL (162280), PMP22 (601097), PRX (605725), RAB7A (602298), SBF2 (607697), SCN9A (603415), SH3TC2 (608206), SPTLC2 (605713), TRPV4 (605427), TTR (176300), and YARS (603623) | |||||