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[Preprint]. 2023 Feb 1:rs.3.rs-2508462. [Version 1] doi: 10.21203/rs.3.rs-2508462/v1

Table 4.

Summary of genes with 30 or more prioritized VUSs per 1000 amino acids in length. A comprehensive list of all prioritized VUSs is available in Table S4. These VUSs were prioritized based on having a ΔΔGFold > 1.8 and a CADD score >25.7.

Gene Protein Family Variant Density Protein Length # VUSs Mean ΔΔGFold Mean CADD
ATP6V1B1 ATPase 33.1 513 17 2.8 27.8
CDC14A Tyrosine phosphatase 36.9 623 23 2.7 28.3
CLRN1 Clarin 43.1 232 10 2.3 26.6
DCAF17 Not assigned 42.3 520 22 3.2 27.9
DIABLO Not assigned 58.6 239 14 2.7 28.4
ELMOD3 Not assigned 31.5 381 12 3.1 27.6
GIPC3 GIPC 41.7 312 13 3.1 27.5
GJB2 Connexin 44.2 226 10 3.1 27.6
GJB3 Connexin 40.7 270 11 3.4 27.3
GRXCR1 GRXCR1 34.5 290 10 2.8 27.6
GSDME Gasdermin 38.3 496 19 3.4 27.4
HARS2 Aminoacyl-tRNA synthetase 33.2 512 17 2.7 28.8
KARS1 Aminoacyl-tRNA synthetase 30.4 625 19 2.7 28.3
LHFPL5 LHFP 32.0 219 7 3.3 28.4
LOXL3 Lysyl oxidase 35.9 753 27 3.0 27.8
MANBA Glycosyl hydrolase 30.7 879 27 3.1 27.7
MASP1 Peptidase 50.8 728 37 3.1 28.6
MSRB3 Sulfoxide reductase 37.8 185 7 3.4 28.3
MYO3A Myosin-kinesin ATPase 38.4 1616 62 3.0 28.4
MYO6 Myosin-kinesin ATPase 30.9 1294 40 3.1 27.9
MYO7A Myosin-kinesin ATPase 39.3 2215 87 3.0 28.0
NARS2 Aminoacyl-tRNA synthetase 46.1 477 22 2.8 28.3
OTOF Ferlin 30.0 1997 60 3.2 28.4
OTOGL Otogelin 61.0 2344 143 3.1 28.2
PCDH15 Not assigned 30.7 1790 55 3.1 27.9
POLR1C RNA polymerase 46.2 346 16 2.9 27.9
RDX Not assigned 39.7 604 24 3.0 27.5
SEMA3E Semaphorin 31.0 775 24 3.3 28.1
SLC17A8 Sodium/anion cotransporter 30.6 589 18 2.8 28.9
SLC19A2 Thiamine transporter 70.4 497 35 3.5 28.1
SLC22A4 Cation transporter 38.1 551 21 3.0 28.3
SLC26A4 SLC26A/SulP transporter 57.7 780 45 2.9 28.1
SLC44A4 Choline transporter-like 54.9 710 39 3.0 28.5
SLC52A2 Riboflavin transporter 36.0 445 16 3.2 26.9
SLC52A3 Riboflavin transporter 34.1 469 16 3.2 27.3
TECTA Not assigned 39.0 2155 84 3.1 28.0
TMC1 TMC 31.6 760 24 3.3 29.0
TSPEAR Not assigned 31.6 601 19 3.5 28.1
WFS1 Not assigned 51.7 890 46 3.0 27.7