Table 1 Fifteen validated variants seen in both P1 and P2
Gene | Ref_Seq mRNA transcript | cDNA variant | Amino Acid Change | Variant type | Scaled CADD score | variant frequency in gnomAD v2 |
|---|---|---|---|---|---|---|
REEP5 | NM_005669.4 | c.159 T > G | p.Tyr53* | Nonsense | 31 | 0 |
RHBDL2 | NM_017821.3 | c.395C > G | p.Gly132Ala | Missense | 29.8 | 0 |
FGFR4 | NM_022963.2 | c.1988G > A | p.Arg663Gln | Missense | 21.9 | 4.42E-05 |
CNTN2 | NM_005076.3 | c.2263A > T | p.Ser755Cys | Missense | 21.2 | 3.98E-06 |
RANBP2 | NM_006267.4 | c.3683G > T | p.Gly1228Val | Missense | 19.8 | 0 |
ZNF747 | NM_023931.2 | c.254C > T | p.Gly85Glu | Missense | 16.28 | 5.70E-06 |
EXOG | NM_005107.3 | c.178G > A | p.Ala60Thr | Missense | 16.17 | 0 |
BRINP3 | NM_199051.1 | c.809A > C | p.Glu270Ala | Missense | 16.1 | 1.60E-05 |
ASIC1 | NM_020039.3 | c.463C > T | p.Arg155Cys | Missense | 16.05 | 0 |
TNFRSF1B | NM_001066.2 | c.1337A > G | p.Glu446Gly | Missense | 15.46 | 3.99E-06 |
RANBP6 | NM_001243202.1 | c.251A > C | p.Glu84Ala | Missense | 14.87 | 3.98-E06 |
LSR | NM_205834.3 | c.725C > T | p.Thr242Ile | Missense | 14.79 | 3.20E-05 |
MTERFD3 | NM_001033050.1 | c.607C > T | p.Ala203Thr | Missense | 12.04 | 1.20E-05 |
PAX1 | NM_001257096.1 | c.1379G > T | p.Arg460Leu | Missense | 11.57 | 5.11E-05 |
EGFR | NM_005228.3 | c.1915A > C | p.ASN639His | Missense | 10.51 | 0 |