Table 3.
Rare variants detected in ICASO patients
| Position | Gene Region | Function | Varianta | SNP ID | Genotypeb | SIFTc | POLYPhen V2c | |||
|---|---|---|---|---|---|---|---|---|---|---|
| cDNA | Amino Acid | Case | 1000G_CHB | GENESKY | ||||||
| Chr17:78247076–78,247,076 | exonic | frameshift | c.134delC | p.S45 fs | – | 249/1/0 | 208/0/0 | 1007/0/0 | – | – |
| Chr17:78298891 | exonic | missense | c.3086 T > C | p.L1029S | rs753208141 | 249/1/0 | 208/0/0 | 1007/0/0 | D | D |
| Chr17:78307986 | exonic | missense | c.4225G > T | p.D1409Y | – | 249/1/0 | 208/0/0 | 1007/0/0 | D | D |
| Chr17:78311532 | splicing | – | c.4668 + 6C > T | – | rs78795452 | 248/2/0 | 205/3/0 | 1007/0/0 | – | – |
| Chr17:78311620 | splicing | – | c.4669-13A > G | – | rs750893752 | 249/1/0 | 208/0/0 | 999/8/0 | – | – |
| Chr17:78313764 | exonic | missense | c.5597C > T | p.T1866I | rs546687179 | 244/6/0 | 207/1/0 | 1007/0/0 | D | – |
| Chr17:78318465 | splicing | – | c.6343-13C > G | – | rs141121193 | 246/4/0 | 206/2/0 | 992/15/0 | – | – |
| Chr17:78319385 | exonic | missense | c.7250 T > G | p.I2417S | rs181965032 | 244/6/0 | 201/7/0 | 992/15/0 | D | P |
| Chr17:78326772 | exonic | missense | c.10336C > T | p.R3446W | rs776943470 | 249/1/0 | 208/0/0 | 992/15/0 | D | D |
| Chr17:78350088 | splicing | – | c.13186-13 T > C | – | rs113236556 | 239/11/0 | 202/6/0 | 1006/1/0 | – | – |
| Chr17:78353469 | exonic | missense | c.13595 T > C | p.I4532T | rs373648166 | 249/1/0 | 208/0/0 | 975/32/0 | D | D |
| Chr17:78354738 | exonic | missense | c.13748G > A | p.R4583Q | rs199887580 | 249/1/0 | 208/0/0 | 1007/0/0 | D | D |
| Chr17:78355494 | exonic | missense | c.13945C > G | p.L4649 V | rs61745599 | 249/1/0 | 208/0/0 | 1007/0/0 | D | D |
| Chr17:78356830 | exonic | missense | c.14030G > T | p.W4677 L | rs61741961 | 249/1/0 | 208/0/0 | 1006/1/0 | D | D |
| Chr17:78357541 | exonic | missense | c.14135A > T | p.N4712I | – | 249/1/0 | 208/0/0 | 1007/0/0 | D | D |
| Chr17:78360656 | exonic | missense | c.14887C > T | p.R4963C | rs772035323 | 249/1/0 | 208/0/0 | 1007/0/0 | D | D |
| Chr17:78362497 | splicing | – | c.15000 + 8C > T | – | – | 249/1/0 | 208/0/0 | 1006/1/0 | – | – |
| Chr17:78363181 | splicing | – | c.15195 + 14C > T | – | rs373144473 | 249/1/0 | 208/0/0 | 1007/0/0 | – | – |
a Genbank accession number: NM_001256071; b Genotype presented as wild type/heterozygous/hommozygous
c SIFT Score Prediction: D = damaging, T = tolerated; c POLYPHEN Score Prediction: B = benign, P = possibly damaging, D = probably damaging
– Not available