Table 3a.
Multiple known genes segregating in same families
| Family | Ethnicity | Genes | Position a | Transcript | cDNA mutation | Protein change | Variation | Protein function | CADD score V1.3 | ExAC allele frequency x10 − 6 | OMIM |
|---|---|---|---|---|---|---|---|---|---|---|---|
| PKMR61b | Punjabi | TMEM67 | Chr8:94827616G>A | NM_153704.5 | c.2848G>A | p.(Val950Met) | Missense | Centriole migration to the apical membrane | 32.0 | 8.516 | 609884 |
| FGFR1 | Chr8:38271255G>A | NM_023110.2 | c.2360C>T | p.(Thr787Met) | Missense | Fibroblast growth factor receptor | 29.2 | 126.8 | 136350 | ||
| PKMR69 | Punjabi | FRAS1 | Chr4:79443907G>A | NM_025074.6 | c.10753G>A | p.(Ala3585Thr) | Missense | Extracellular matrix protein | 24.4 | 27.21 | 607830 |
| EXOSC8 | Chr13:37580059C>T | NM_181503.2 | c.241C>T | p.(Pro81Ser) | Missense | Exosome component | 28.2 | 173.6 | 606019 |
Abbreviations: OMIM, Online Mendelian Inheritance In Man.
aChromosomal position according to GRCh37/hg19.