Table 3 Shows chromosome and variant details of the target genes
Family | Country | Gene | CHR | ID | KG | Transcript | Variant | Variant type | Inheritance | Zygosity | Coisolation | GeneTag |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
F1 | China | COL4A2 | 13 | rs192250572 | 0.0022 | NM_001846.2 | c.1328C > G(p.P443R) | Missense | AD | Heterozygote | Yes | Novel |
F2 | China | HERC2 | 15 | rs185865505 | 0.002 | NM_004667.5 | c.10474T > C(p.S3492P) | Missense | AD | Heterozygote | Yes | Novel |
F3 | China | SYNE1 | 6 | . | -1 | XM_005266877.1 | c.6992C > A(p.A2331D) | Missense | AD | Heterozygote | Yes | Novel |
F4 | China | AUTS2 | 7 | rs141599415 | 0.0008 | NM_015570.2 | c.979C > T(p.R327C) | Missense | AD | Heterozygote | Yes | Novel |
F5 | China | CDH3 | 16 | rs144117679 | -1 | NM_001793.4 | c.2395G > A(p.A799T) | Missense | AD | Heterozygote | Yes | Novel |
F6 | China | SYNE1 | 6 | rs140135976 | 0.0028 | XM_005266877.1 | c.1838C > T(p.S613F) | Missense | AD | Heterozygote | Yes | Novel |
F7 | China | LOXHD1 | 18 | rs148468627 | 0.0048 | NM_144612.6 | c.6413G > A(p.R2138Q) | Missense | AD | Heterozygote | Yes | Novel |
F8 | China | COL4A2 | 13 | rs201214647 | 0.0002 | NM_001846.2 | c.2051G > C(p.G684A) | Missense | AD | Heterozygote | Yes | Novel |
F9 | China | COL4A2 | 13 | rs531809013, rs191708663 | 0.002 | NM_001846.2 | c.4255A > G(p.M1419V), c.4256 T > C(p.M1419T) | Missense | AD | Heterozygote | Yes | Novel |
F10 | China | GTDC2 | 3 | rs199612856 | 0.001 | NM_032806.5 | c.1181G > A(p.R394Q) | Missense | AD | Heterozygote | Yes | Novel |