Table 2.
Family | Gene | Genomic position | Reference/alterative | Consequence | cDNA change | Amino acid change | GnomAD MAF | SIFT | Polyphen2 |
---|---|---|---|---|---|---|---|---|---|
42 | LRRC43 | 12: 122684858 | T/C | Missense | c.T1472C | p.V491A | NA | 0.003, Deleterious | 0.915, Damaging |
332 | LRRC44 | 1: 74575239 | T/C | Splicing | c.708-2 A > G | NA | NA | NA | NA |
94 | LRRC47 | 1: 3700588 | T/G | Missense | c.A1282C | p.K428Q | NA | 0.005, Deleterious | 0.918, Damaging |
313 | LRRC55 | 11: 56949659 | C/T | Missense | c.C292T | p.R98W | NA | 0.017, Deleterious | 0.997, Damaging |
147 | LRRCC1 | 8: 56949659 | G/A | Missense | c.G1931A | p.R644H | 0.0008 | 0.000, Deleterious | 0.999, Damaging |
147 | LRRCC1 | 8: 86050476 | C/G | Stopgain | c.C2700G | p.Y900X | 0.0005 | NA | NA |
311 | LRRD1 | 7: 91788389 | G/C | Stopgain | c.C2046G | p.Y682X | 0.0004 | NA | NA |
314 | LRRD1 | 7: 91779953 | T/C | Missense | c.A2173G | p.I725V | 0.005 | 0.024, Deleterious | 0.984, Damaging |
399 | LRRD1 | 7: 91779953 | T/C | Missense | c.A2173G | p.I725V | 0.005 | 0.024, Deleterious | 0.984, Damaging |
48 | LRRTM4 | 2: 77746619 | T/C | Missense | c.A379G | p.N127D | 0.0015 | 0.004 Deleterious | 1.0, Damaging |
312 | SH3PXD2A | 10: 105363285 | C/T | Missense | c.G1606A | p.G536S | 0.0001 | 0.037, Deleterious | 1.0, Damaging |
319 | SLC26A8 | 6: 35945067 | A/G | Missense | c.T772C | p.S258P | 0.00001759 | 0.006 Deleterious | 0.999, Damaging |
GnomAD Genome Aggregation Database, MAF minor allele frequency, SIFT Sorting Intolerant From Tolerant, Polyphen2 Polymorphism Phenotyping v2, NA not applicable.