Gene | cDNA change | Protein change | dbSNP (MAF) | Mother | Father | Patient | Polyphen | Sift | Mutation Taster | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Genotype | Variant Frequency | Genotype | Variant Frequency | Genotype | Variant Frequency | |||||||
C2CD3 | c.5653 T > C | p.S1885P | rs142277857 (0.001) | T/C | 43.1 | T/T | - | T/C | 53.57 | PrD | D | P |
c.3223A > C | p.S1075R | - | A/A | - | A/C | 50.91 | A/C | 41.67 | PrD | D | DC | |
FAM13C | c.1361G > A | p.R454H | rs369226393 | G/A | 56.4 | G/G | - | G/A | 50 | B | T | P |
c.439C > T | p.P147S | rs73299227 (0.0092) | C/C | - | C/T | 51,43 | C/T | 36.36 | PD | D* | DC | |
GOLGA3 | c.209G > A | p.G70E | rs2291256 (0.0581) | G/A | 52.3 | G/G | - | G/A | 47.06 | B | D* | P |
c.3728G > A | p.R1243Q | rs140646528 (0.0134) | G/G | - | G/A | 60 | G/A | 25 | B | T | P | |
LAMB2 | c.1424G > A | p.R475Q | rs370565848 | G/A | 36.4 | G/G | - | G/A | 60 | PrD | T | P |
c.5293G > A | p.A1765T | rs74951356 (0.0130) | G/G | - | G/A | 55.81 | G/A | 41.18 | B | T | DC | |
MTMR6 | c.685C > G | p.P229A | rs149526134 (0.0002) | C/G | 60.9 | C/C | - | C/G | 26.32 | B | T | P |
c.1795G > A | p.A599T | rs62619824 (0.0571 | G/G | - | G/A | 35.09 | G/A | 51.85 | B | T | DC | |
RSPH1 | c.742G > A | p.G248R | rs117385282 (0.0839) | G/A | 50 | G/G | - | G/A | 31.25 | B | T | P |
c.733G > A | p.G245R | rs151158140 (0.0026) | G/G | - | G/A | 50.77 | G/A | 58.33 | PD | T | P | |
SLC9A9 | c.1765A > G | p.I589V | rs2289491 (0.0290) | A/G | 31.1 | A/A | - | A/G | 28 | B | T | P |
c.1618A > G | p.I540V | rs16853300 (0.0066) | A/A | - | A/G | 48.62 | A/G | 36.36 | B | T | P | |
SPICE1 | c.2470A > C | p.T824P | rs57006145 (0.0313) | A/C | 40.4 | A/A | - | A/C | 62.16 | PrD | T | DC |
c.850G > A | p.V284M | rs73239152 (0.0078) | G/G | - | G/A | 47.54 | G/A | 29.27 | B | D | DC | |
SYNE1 | c.16277C > T | p.T5426M | rs2306914 (0.0463) | C/T | 39.1 | C/C | - | C/T | 41.07 | B | T | P |
c. 12442G > C | p.D4148H | rs117501809 (0.0124) | G/G | - | G/C | 49.15 | G/C | 28.57 | PrD | D | P | |
TAF5L | c.721G > A | p.V241I | rs55655740 (0.0042) | G/A | 36.0 | G/G | - | G/A | 48 | B | - | DC |
c.1123A > G | p.T375A | rs41304137 (0.0008) | A/A | - | A/G | 20 | A/G | 40 | PrD | T | P | |
TTN | c.106619 T > C | p.I35540T | rs55880440 (0.0046) | T/C | 40.0 | T/T | - | T/C | 57.69 | - | - | P |
c.65147C > T | p.S21716L | rs13021201 (0.0108) | C/C | - | C/T | 42.86 | C/T | 58.14 | - | - | P |