Table 3.
The 36 SNVs in the exon regions meeting the screening criteria.
| Family | Carrier | SNV | Chr | Pos(GRCh37) | Ref | Alt | Gene | ChinaMap | dbSNP | ExAC | GnomAD | SIFT | Polyphen2 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | I-2 II-1 II-2 | rs375155430 | 4 | 8613781 | G | A | CPZ | 1.42E-04 | 1.03E-03 | 5.E-04 | 3.E-04 | 0.001 | 1 |
| rs200622924 | 5 | 40958328 | C | T | C7 | 8.50E-04 | 3.42E-04 | 5.E-04 | 6.E-04 | 0 | 1 | ||
| rs12210538 | 6 | 110760008 | A | G | SLC22A16 | 1.98E-03 | 3.42E-04 | 2.E-04 | 3.E-04 | 0.004 | 0.959 | ||
| 2 | I-2 II-1 | . | 1 | 93682299 | T | G | CCDC18 | . | . | . | . | 0 | 1 |
| . | 1 | 180065192 | A | C | CEP350 | . | . | . | . | 0.013 | 0.999 | ||
| rs144715956 | 2 | 99013615 | G | A | CNGA3 | 9.44E-05 | 7.20E-05 | 2.E-04 | 2.E-04 | 0 | 1 | ||
| . | 2 | 179482520 | A | C | TTN | . | . | . | . | 0.001 | 0.989 | ||
| rs116608946 | 2 | 238258801 | G | A | COL6A3 | 4.25E-04 | 2.95E-04 | 2.E-04 | 1.E-04 | 0 | 1 | ||
| . | 5 | 43659448 | G | C | NNT | . | . | . | . | 0 | 1 | ||
| rs145644461 | 5 | 145499963 | C | T | LARS | . | 1.09E-03 | 2.E-04 | 1.E-04 | 0.027 | 1 | ||
| rs749833988 | 7 | 99022765 | G | A | ATP5J2-PTCD1 | 9.44E-05 | 1.60E-05 | 2.E-04 | 1.E-04 | 0.001 | 1 | ||
| rs1381527067 | 8 | 11406537 | G | C | BLK | 4.72E-05 | 2.40E-05 | . | . | 0 | 1 | ||
| rs1224964414 | 9 | 1052118 | C | G | DMRT2 | . | . | . | . | 0 | 1 | ||
| rs767474343 | 9 | 77567319 | G | T | C9orf40 | 5.19E-04 | 4.00E-05 | 3.E-04 | 6.E-04 | 0.001 | 1 | ||
| rs1374393461 | 10 | 88421115 | T | A | OPN4 | . | . | . | . | 0 | 1 | ||
| rs748523810 | 11 | 5345338 | G | T | OR51B2 | . | . | . | . | 0 | 1 | ||
| rs1272574331 | 11 | 5529289 | C | A | UBQLN3 | 1.89E-04 | . | . | . | 0.011 | 0.996 | ||
| . | 14 | 45658252 | A | G | FANCM | . | . | . | . | 0 | 1 | ||
| rs775421550 | 16 | 8890128 | C | A | TMEM186 | 1.23E-03 | 2.40E-03 | 8.E-04 | 6.E-04 | 0.004 | 1 | ||
| . | 16 | 66430084 | C | T | CDH5 | 4.72E-05 | . | . | . | 0 | 1 | ||
| rs1177611736 | 16 | 70900211 | G | T | HYDIN | . | 1.60E-05 | . | 2.E-04 | 0 | 0.999 | ||
| 3 | I-2 II-1 | rs758732580 | 1 | 11775244 | G | A | DRAXIN | 9.44E-04 | 3.42E-04 | 1.E-04 | 5.E-04 | 0 | 1 |
| rs768428875 | 1 | 177909759 | G | A | SEC16B | 1.42E-04 | 3.50E-04 | 1.E-04 | 1.E-04 | 0 | 1 | ||
| rs200878036 | 2 | 15613385 | C | G | NBAS | 1.42E-04 | . | . | . | 0.003 | 0.999 | ||
| rs374591393 | 2 | 175289331 | T | A | SCRN3 | . | . | . | . | 0 | 1 | ||
| . | 5 | 179155613 | T | A | CANX | . | . | . | . | 0.012 | 0.982 | ||
| rs762123072 | 6 | 110062680 | C | T | FIG4 | 8.03E-04 | 6.83E-04 | 7.E-04 | 7.E-04 | 0.015 | 0.998 | ||
| rs760314999 | 6 | 158924417 | C | T | TULP4 | 3.31E-04 | 6.80E-05 | 8.E-04 | 9.E-04 | 0 | 1 | ||
| rs764960008 | 9 | 74365207 | A | G | TMEM2 | 2.83E-04 | 2.80E-05 | 3.E-04 | 4.E-04 | 0 | 0.997 | ||
| rs1316987134 | 17 | 4045943 | A | T | ZZEF1 | . | . | . | . | 0 | 1 | ||
| . | 17 | 5086381 | G | C | ZNF594 | . | . | . | . | 0.002 | 0.994 | ||
| rs1006825019 | 17 | 73836605 | C | T | UNC13D | 9.44E-05 | 8.00E-06 | . | . | 0.009 | 0.994 | ||
| rs140002610 | 21 | 44486410 | G | A | CBS | 7.56E-04 | 1.71E-03 | 7.E-04 | 5.E-04 | 0.003 | 0.999 | ||
| rs376115617 | 22 | 25599848 | C | T | CRYBB3 | 2.83E-04 | 6.00E-05 | 2.E-04 | 2.E-04 | 0 | 1 | ||
| . | 22 | 36902126 | G | A | FOXRED2 | . | . | . | . | 0.001 | 1 | ||
| rs764088622 | X | 132161219 | G | A | USP26 | . | 6.84E-04 | 8.E-04 | 5.E-04 | 0.039 | 0.99 |
All mutations are nonsynonymous SNV. None of the above mutations have been reported in the East Asian population of the 1000G database.
Family: family number that inherited this mutation; Carrier: family members with this mutation; SNV: rsID of the single nucleotide variant in dbSNP database; Chr: chromosome which the SNV located in; Pos(GRCh37): GRCh37 coordinate position of the SNV; Ref: reference allele of the SNV; Alt: alternative allele of the SNV; Gene: gene which the SNV is located in or nearest to; ChinaMap: allele frequency of the SNV in ChinaMap database; dbSNP: allele frequency of the SNV in KOREAN population from KRGDB in dbSNP database; ExAC: allele frequency of the SNV in East Asian population from ExAC database; GnomAD: allele frequency of the SNV in East Asian population from exome data of GnomAD database; SIFT: harmfulness score of the SNV given by SIFT, the smaller the score, the stronger the harmfulness; Polyphen2: harmfulness score of the SNV given by Polyphen2 HDIV, the greater the score, the stronger the harmfulness.