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1Department of Internal Medicine and Laboratory of Genomics and Translational Medicine, Gachon University College of Medicine, Incheon, Korea.
2Department of Internal Medicine, Cheil General Hospital & Women's Healthcare Center, Dankook University College of Medicine, Seoul, Korea.
3Private Practice, Lafayette, CA, USA.
Copyright © 2018 Korean Endocrine Society
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
AUTHOR CONTRIBUTIONS: Conception or design: S.L. Acquisition, analysis, or interpretation of data: D.E.L., S.Y.P., S.L. Drafting the work or revising: J.B., H.S.C., S.L. Final approval of the manuscript: S.L.
CONFLICTS OF INTEREST: No potential conflict of interest relevant to this article was reported.
Filter | Recessive | Dominant | Compound heterozygous |
---|---|---|---|
Raw | 2,435 | 6,663 | 4,051 |
Filter 1 | 470 | 1,519 | 1,446 |
Filter 2 | 132 | 625 | 426 |
Filter 3 | 83 | 451 | 252 |
Filter 4 | 10 | 149 | 113 |
Filter 5 | 4 | 147 | 108 |
PCYT1A, phosphate cytidylyltransferase 1, choline, alpha; PRUNE, prune exophophatase; NFX1, nuclear transcription factor, X-box binding 1; NEB, nebulin; LGSN, lengsin; PRDM10, PR/SET domain 10; FNDC3B, fibronectin type III domain containing 3B; MYLK, myosin light chain kinase; PCDHAC2, protocadherin alpha subfamily C, 2; PCMTD1, protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1; STAC, SH3 and cystein rich domain; PABPC1, poly(A) binding protein cytoplasmic 1; PPIL1, peptidylprolyl isomerase like 1; MST1, macrophage stimulating 1; TTN, titin; PLCB4, phospholipase C beta 4; ATRAID, all-trans retinoic acid induced differentiation factor; PTHLH, parathyroid hormone like hormone; COQ2, coenzyme Q2, polyprenyltransferase; HHIP, hedgehog interacting protein; MTHFD1L, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like.
aHGVS_C, coding DNA reference sequence in Human Genome Variation Society nomenclature; bHGVS_P, protein reference sequence in Human Genome Variation Society nomenclature.