My VCF variants
1. CHD7 c.7960A>C p.Asn2654His rsID: none Zygosity: Het Ref: A Alt: C Freq: 0
2. KDM6A c.3136A>C p.Asn1046His rsID: rs765159063 Zygosity: Hom Ref: A Alt: C Freq: 0
3. KDM6A c.3137A>G p.Asn1046Ser rsID: rs750326975 Zygosity: Hom Ref: A Alt: G Freq: 0
4. CHD1 c.2896T>G p.Ser966Ala rsID: rs199740650 Zygosity: Het Ref: T Alt: G Freq: 0.0000411
5. PAX7 c.1033G>C p.Ala345Pro rsID: rs2089243527 Zygosity: Het Ref: G Alt: C Freq: 0
6. TAF2 c.1262G>A p.Gly421Glu rsID: rs61753748 Zygosity: Het Ref: G Alt: A Freq: 0.00218
7. KMT2C c.1402C>A p.Pro468Thr rsID: rs140919432 Zygosity: Het Ref: C Alt: A Freq: 0.000998
8. SUZ12 c.211G>A p.Val71Met rsID: rs149833913 Zygosity: Het Ref: G Alt: A Freq: 0.00461
9. STARD3 c.1055G>A p.Arg352His rsID: rs34408242 Zygosity: Het Ref: G Alt: A Freq: 0.0015
10. MT‑CYB c.580A>G p.Thr194Ala rsID: rs41504845 Zygosity: Hom Ref: A Alt: G Freq: 0.0008
11. SIRT1 c.53C>G p.Ala18Gly rsID: rs1431102999 Zygosity: Het Ref: C Alt: G Freq: 0
12. TAF4 c.3709C>G p.Ala124Pro rsID: rs1167483566 Zygosity: Het Ref: C Alt: G Freq: 0
13. TBP c.279_281del p.Gln95del rsID: rs752404282 Zygosity: Het Ref: ACAG Alt: A Freq: 0.00403
14. TBP ACAGACGCAG→A In‑frame deletion rsID: rs752404282 Zygosity: Het Ref: ACAGACGCAG Alt: A Freq: 0.000041
15. TAFI c.*424C>T 3′ UTR rsID: rs763417621 Zygosity: Hom Ref: C Alt: T Freq: 0.000430
16. CHD7 c.7960A>C p.Asn2654His rsID: none Zygosity: Het Ref: A Alt: C Freq: 0
17. KDM6A c.3136A>C p.Asn1046His rsID: rs765159063 Zygosity: Hom Ref: A Alt: C Freq: 0
18. KDM6A c.3137A>G p.Asn1046Ser rsID: rs750326975 Zygosity: Hom Ref: A Alt: G Freq: 0
19. SIRT1 c.53C>G p.Ala18Gly rsID: rs1431102999 Zygosity: Het Ref: C Alt: G Freq: 0
20. TAFI c.*424C>T 3′ UTR rsID: rs763417621 Zygosity: Hom Ref: C Alt: T Freq: 0.000430
21. TAF2 c.1262G>A p.Gly421Glu rsID: rs61753748 Zygosity: Het Ref: G Alt: A Freq: 0.00218
22. TBP c.279_281del p.Gln95del rsID: rs752404282 Zygosity: Het Ref: ACAG Alt: A Freq: 0.00403
23. TBP ACAGACGCAG→A In‑frame deletion rsID: rs752404282 Zygosity: Het Ref: ACAGACGCAG Alt: A Freq: 0.000041
24. TAF4 c.3709C>G p.Ala124Pro rsID: rs1167483566 Zygosity: Het Ref: C Alt: G Freq: 0
25. PAX7 c.1033G>C p.Ala345Pro rsID: rs2089243527 Zygosity: Het Ref: G Alt: C Freq: 0