Pulmonary Fibrosis (21 genes) + rs35705950 (MUC5B gene) - KUL
Full name: |
Pulmonary Fibrosis (21 genes) + rs35705950 (MUC5B gene) - KUL
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Description: |
https://firebasestorage.googleapis.com/v0/b/uz-laboboeken.appspot.com/o/GHB_CME%2Flongfibrose%20-NGS%20-%20full%20panel.pdf?alt=media&token=fc456ff3-e40f-4ec2-b579-4875d2eac69f
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Version number: |
Pulmonary_fibrosis_v4 (last update 13/08/2021)
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Laboratory: | |
Created: |
03 Jul 2019 - 11:24
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Changed: |
26 Sep 2022 - 09:01
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Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ABCA3 | 100.00 | 0 | NM_001089.2 |
ACD | 100.00 | 0 | NM_001082486.1 |
CSF2RA | 100.00 | 0 | NM_006140.4 |
CSF2RB | 100.00 | 0 | NM_000395.2 |
DKC1 | 100.00 | 0 | NM_001363.4 |
GATA2 | 100.00 | 0 | NM_032638.4 |
GBA1 | 100.00 | 0 | NM_001005741.2 |
HPS1 | 100.00 | 0 | NM_000195.3 |
HPS4 | 100.00 | 0 | NM_022081.5 |
NHP2 | 100.00 | 0 | NM_017838.3 |
NKX2-1 | 100.00 | 0 | NM_001079668.2 |
PARN | 100.00 | 0 | NM_002582.3 |
RTEL1 | 100.00 | 0 | NM_032957.4 |
SFTPA1 | 100.00 | 0 | NM_005411.4 |
SFTPA2 | 100.00 | 0 | NM_001098668.2 |
SFTPC | 100.00 | 0 | NM_003018.3 |
SLC34A2 | 100.00 | 0 | NM_006424.2 |
SMPD1 | 100.00 | 0 | NM_000543.4 |
TERC | 100.00 | 0 | NR_001566.1 |
TERT | 100.00 | 0 | NM_198253.2 |
TINF2 | 100.00 | 0 | NM_001099274.1 |