The predictive model was calculated as the sum of the predictor values weighted by regression coefficients and included the addition of cetuximab to chemotherapy ([beta]=+1.771), mutations in 6 genes: ATP6V1B1
([beta]=-0.165) CUL9 ([beta]=-0.726), ERBB2 ([beta]=-1.140), LY6G6D ([beta]=-0.994), PTCH1 ([beta]=+0.821), and RBMXL3 ([beta]=-0.477), and constant value (a=-0.255).
The false-negative variant c.1155dupC in ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1) was seen in 77% of reverse reads and in only 5.5% of forward reads (Table 3).
Two disease-causing variants have been missed [c.3364C>T (COL11A2) and c.1155dupC (ATP6V1B1)].
 BRCA1, breast cancer 1, early onset; BRCA2, breast cancer 2, early onset; Human genes; COL11A2, collagen, type XI, alpha 2; ATP6V1B1, ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1; SLC26A4, solute carrier family 26 (anion exchanger), member 4; CNGB3, cyclic nucleotide gated channel beta 3.
Primer dRTA otozomal dominant (SLC4A1 geni) veya resesif olabilir (ATP6V1B1 veya ATP6V0A4 genleri).
Distal tubulun [alpha]-interkalat hucrelerinden H1 iyonlannin salgilanamamasi hasarli vakuolar H1-ATPaz (ATP6V1B1 veya ATP6V0A4 genleri) veya bir hasarlt C1_/HCO3_ anyon degistiriei-1 (SLC4A1 geni) tarafindan ortaya vicar.
We detected a wide heterozygous duplication at 2p13.3 that spanned about 735 kb and included 10 genes: CD207 (CD207 molecule, langerin), VAX2 (ventral anterior homeobox 2), ATP6V1B1
(ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunitB1), ANKRD53 (ankyrin repeat domain 53), TEX261 (testis expressed 261), NAGK (N-acetylglucosamine kinase), MCEE (methylmalonyl CoA epimerase), MPHOSPH10 [M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)], PAIP2B [poly(A) binding protein interacting protein 2B], and ZNF638 (zinc finger protein 638), as well as the first 20 exons of DYSF [dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)], which causes LGMD2B (33).