Belgian Genetic Tests database- Diseases
- Autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease
| Name: |
Autosomal dominant polycystic kidney disease
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| Description: |
A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD).
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| ORPHAcode: |
730
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| Synonyms: |
ADPKD
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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Ciliopathy (120 genes) - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACVR2B 99.99 0 ADAMTS9 99.94 0 AHI1 99.86 0 ALMS1 99.90 0 ANKS6 100.00 0 ARL13B 99.53 0 ARL3 99.98 0 ARL6 99.90 0 ARMC9 99.77 0 B9D1 99.80 0 B9D2 99.88 0 BBIP1 99.99 0 BBS1 100.00 0 BBS10 99.98 0 BBS12 100.00 0 BBS2 99.90 0 BBS4 99.88 0 BBS5 99.00 0 BBS7 99.42 0 BBS9 99.75 0 C2CD3 99.88 0 CBY1 100.00 0 CC2D2A 99.95 0 CCDC103 99.68 0 CCDC172 99.85 0 CCDC28B 99.99 0 CCDC32 99.97 0 CCDC39 99.74 0 CCDC40 100.00 0 CCDC65 99.80 0 CCDC96 100.00 0 CCNO 100.00 0 CENPF 99.97 0 CEP104 99.99 0 CEP120 99.90 0 CEP164 99.99 0 CEP290 98.10 0 CEP295 99.94 0 CEP41 99.99 0 CEP55 99.92 0 CEP83 98.68 0 CFAP251 99.98 0 CFAP298 99.96 0 CFAP300 99.47 0 CFAP410 100.00 0 CFAP418 100.00 0 CFAP44 99.75 0 CFAP53 99.95 0 CFAP69 99.09 0 CFC1 21.93 0 CILK1 99.69 0 CPLANE1 99.81 0 CRB2 99.95 0 CSPP1 98.31 0 DCDC2 99.96 0 DDX59 99.67 0 DEUP1 99.86 0 DHCR7 99.97 0 DLG5 99.91 0 DNAAF1 99.99 0 DNAAF11 99.80 0 DNAAF2 99.91 0 DNAAF3 99.99 0 DNAAF4 99.78 0 DNAAF5 99.99 0 DNAAF6 98.73 0 DNAH1 99.98 0 DNAH11 99.93 0 DNAH5 99.98 0 DNAH8 99.84 0 DNAI1 99.92 0 DNAI2 99.86 0 DNAJB13 99.91 0 DNAH9 99.79 0 DRC1 99.93 0 DYNC2H1 99.66 0 DYNC2I1 99.99 0 DYNC2I2 99.98 0 DYNC2LI1 99.94 0 DYNLT2B 100.00 0 EVC 99.95 0 EVC2 99.97 0 EXOC3L2 99.88 0 EXOC6B 99.41 0 EXOC8 99.99 0 EXTL3 99.99 0 FAM149B1 99.69 0 FAM166B 99.99 0 FOXF1 99.99 0 FUZ 99.99 0 GAS2L2 100.00 0 GAS8 100.00 0 GLI3 100.00 0 GLIS2 100.00 0 HNF1B 100.00 0 HYDIN 81.28 0 HYLS1 100.00 0 IFT122 99.98 0 IFT140 100.00 0 IFT172 99.98 0 IFT27 100.00 0 IFT43 99.97 0 IFT52 99.82 0 IFT74 99.71 0 IFT80 99.69 0 IFT81 94.64 0 INPP5E 99.85 0 INTS13 98.20 0 INTU 99.92 0 INVS 99.94 0 IQCB1 99.72 0 IQCE 99.77 0 KATNIP 99.13 0 KCTD3 99.75 0 KIAA0586 95.75 0 KIAA0753 100.00 0 KIF14 97.80 0 KIF3B 99.99 0 KIF7 100.00 0 LBR 99.66 0 LCA5 99.89 0 LRRC34 99.52 0 LRRC45 99.98 0 LRRC56 99.98 0 LZTFL1 100.00 0 MAPKBP1 99.98 0 MCIDAS 100.00 0 MKKS 100.00 0 MKS1 99.92 0 MMP21 99.99 0 MRE11 99.93 0 NCAPG2 99.97 0 NEK1 99.83 0 NEK9 99.96 0 NME5 99.81 0 NME8 99.83 0 NPHP1 99.05 0 NPHP3 99.89 0 NPHP4 99.98 0 OCRL 99.89 0 ODAD1 96.04 0 ODAD2 98.19 0 ODAD3 99.96 0 ODAD4 99.85 0 OFD1 99.68 0 PDE6D 99.94 0 PIBF1 99.90 0 PIK3C2A 99.92 0 PKD1 99.98 0 PKD2 99.91 0 PKHD1 99.95 0 PMFBP1 99.89 0 PMM2 99.93 0 POC1A 99.98 0 POC1B 100.00 0 RAB28 99.97 0 RPGR 94.45 0 RPGRIP1L 96.35 0 RSPH1 99.87 0 RSPH3 99.94 0 RSPH4A 99.95 0 RSPH9 99.99 0 SBDS 99.93 0 SCLT1 95.17 0 SCNM1 99.47 0 SDCCAG8 100.00 0 SLC30A7 94.71 0 SPAG1 99.78 0 STK36 99.98 0 SUFU 100.00 0 TBC1D32 99.75 0 TCTN1 99.92 0 TCTN2 99.99 0 TCTN3 99.92 0 TMEM107 100.00 0 TMEM138 100.00 0 TMEM17 99.96 0 TMEM216 99.98 0 TMEM218 99.94 0 TMEM231 88.88 0 TMEM237 99.30 0 TMEM260 99.90 0 TMEM67 99.69 0 TOGARAM1 99.93 0 TOPORS 99.99 0 TRAF3IP1 99.96 0 TRIM32 100.00 0 TTC21B 99.50 0 TTC23 99.87 0 TTC26 99.97 0 TTC6 99.77 0 TTC8 99.67 0 TUBGCP4 99.80 0 TULP1 99.99 0 TULP3 99.91 0 TXNDC15 99.78 0 VHL 100.00 0 VPS13B 99.90 0 WDPCP 99.87 0 WDR19 99.80 0 WDR35 99.92 0 XPNPEP3 99.99 0 ZFYVE19 99.99 0 ZIC3 99.90 0 ZMYND10 99.99 0 ZNF423 98.94 0 ZSWIM6 98.94 0 -
Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADAMTS9 100.00 1 NM_182920.2 ALG8 100.00 1 NM_024079.5 ANKS6 100.00 1 NM_173551.5 ARL6 100.00 1 NM_001278293.3 BBIP1 100.00 1 NM_001195305.3 BBS1 100.00 1 NM_024649.5 BBS10 100.00 1 NM_024685.4 BBS12 100.00 1 NM_152618.3 BBS2 100.00 1 NM_031885.5 BBS4 100.00 1 NM_033028.5 BBS5 100.00 1 NM_152384.3 BBS7 100.00 1 NM_176824.3 BBS9 100.00 1 NM_198428.3 CDC73 100.00 1 NM_024529.5 CEP164 100.00 1 NM_014956.5 CEP290 100.00 1 NM_025114.4 CEP83 100.00 1 NM_016122.3 COL4A1 100.00 1 NM_001845.6 COL4A3 100.00 1 NM_000091.5 COL4A4 100.00 1 NM_000092.5 COL4A5 100.00 1 NM_033380.3 DCDC2 100.00 1 NM_016356.5 DNAJB11 100.00 1 NM_016306.6 DZIP1L 100.00 1 NM_173543.3 EYA1 100.00 1 NM_000503.6 FAN1 100.00 1 NM_014967.5 FH 100.00 1 NM_000143.4 FLCN 100.00 1 NM_144997.7 GANAB 100.00 1 NM_198334.3 GATA3 100.00 1 NM_001002295.2 GATM 100.00 1 NM_001482.3 GLIS2 100.00 1 NM_032575.3 HNF1B 100.00 1 NM_000458.4 IFT172 100.00 1 NM_015662.3 IFT27 100.00 1 NM_001177701.3 INVS 100.00 1 NM_014425.5 IQCB1 100.00 1 NM_001023570.4 LRP5 100.00 1 NM_002335.4 LRP6 100.00 1 NM_002336.3 LZTFL1 100.00 1 NM_020347.4 MAPKBP1 100.00 1 NM_014994.3 MET 100.00 1 NM_000245.4 MKKS 100.00 1 NM_170784.3 MKS1 100.00 1 NM_017777.4 NEK8 100.00 1 NM_178170.3 NOTCH2 99.00 1 NM_024408.4 NPHP1 100.00 1 NM_001128178.3 NPHP3 100.00 1 NM_153240.5 NPHP4 100.00 1 NM_015102.5 OFD1 100.00 1 NM_003611.3 PAX2 100.00 1 NM_000278.5 PKD1 100.00 1 NM_001009944.3 PKD2 100.00 1 NM_000297.4 PKHD1 100.00 1 NM_138694.4 PMM2 0.00 1 NM_000303.2 une seule position PRKCSH 100.00 1 NM_001289104.2 PTEN 100.00 1 NM_000314.8 REN 100.00 1 NM_000537.4 RPGRIP1L 96.00 1 NM_015272.5 SDCCAG8 100.00 1 NM_006642.5 SDHB 100.00 1 NM_003000.3 SDHD 100.00 1 NM_003002.4 SEC61A1 100.00 1 NM_013336.4 SEC63 100.00 1 NM_007214.5 TMEM67 100.00 1 NM_153704.6 TRIM32 100.00 1 NM_012210.4 TSC1 100.00 1 NM_000368.5 TSC2 100.00 1 NM_000548.5 TTC21B 100.00 1 NM_024753.5 TTC8 100.00 1 NM_144596.4 UMOD 100.00 1 NM_003361.4 VHL 100.00 1 NM_000551.4 WDPCP 100.00 1 NM_015910.7 WDR19 100.00 1 NM_025132.4 XPNPEP3 100.00 1 NM_022098.4 ZNF423 100.00 1 NM_001379286.1 AHI1 100.00 1 NM_001134831.2 ALG5 100.00 1 NM_013338.5 ALG9 100.00 1 NM_024740.2 ARL13B 100.00 1 NM_001174150.2 ARL3 100.00 1 NM_004311.4 ARMC9 100.00 1 NM_001352754.2 ATXN10 100.00 1 NM_013236.4 B9D1 100.00 1 NM_015681.6 B9D2 100.00 1 NM_030578.4 BAP1 100.00 1 NM_004656.4 C2CD3 100.00 1 NM_001286577.2 CC2D2A 100.00 1 NM_001378615.1 CCDC28B 100.00 1 NM_024296.5 CEP104 100.00 1 NM_014704.4 CEP120 100.00 1 NM_001375405.1 CEP41 100.00 1 NM_018718.3 CFAP418 100.00 1 NM_177965.4 CPLANE1 100.00 1 NM_001384732.1 CSPP1 100.00 1 NM_001382391.1 CYP24A1 100.00 1 NM_000782.5 DLG5 100.00 1 NM_004747.4 DYNC2H1 100.00 1 NM_001377.3 DYNC2I1 100.00 1 NM_018051.5 DYNC2I2 100.00 1 NM_052844.4 DYNC2LI1 100.00 1 NM_016008.4 DYNLT2B 100.00 1 NM_152773.5 EVC 100.00 1 NM_153717.3 EVC2 100.00 1 NM_147127.5 FAM149B1 100.00 1 NM_173348.2 HNF1A 100.00 1 NM_000545.8 HYLS1 100.00 1 NM_001134793.2 IFT122 100.00 1 NM_052989.3 IFT140 100.00 1 NM_014714.4 IFT43 100.00 1 NM_001102564.3 IFT52 100.00 1 NM_016004.5 IFT74 100.00 1 NM_025103.4 IFT80 100.00 1 NM_020800.3 IFT81 100.00 1 NM_014055.4 INPP5E 100.00 1 NM_019892.6 INTU 100.00 1 NM_015693.4 JAG1 100.00 1 NM_000214.3 KATNIP 100.00 1 NM_015202.5 KIAA0586 100.00 1 NM_001329943.3 KIAA0753 100.00 1 NM_014804.3 KIF14 100.00 1 NM_014875.3 KIF7 100.00 1 NM_198525.3 NEK1 100.00 1 NM_001199397.3 PARN 100.00 1 NM_002582.4 PDE6D 100.00 1 NM_002601.4 PIBF1 100.00 1 NM_006346.4 POC1B 100.00 1 NM_172240.3 RNF139 100.00 1 NM_007218.4 SDHA 100.00 1 NM_004168.4 SDHC 100.00 1 NM_003001.5 SEC61B 100.00 1 NM_006808.3 SLC41A1 100.00 1 NM_173854.6 SREBF1 100.00 1 NM_004176.5 SUFU 100.00 1 NM_016169.4 TCTN1 100.00 1 NM_001082538.3 TCTN2 100.00 1 NM_024809.5 TCTN3 100.00 1 NM_015631.6 TFAP2A 100.00 1 NM_001372066.1 TMEM107 100.00 1 NM_183065.4 TMEM138 100.00 1 NM_016464.5 TMEM216 100.00 1 NM_001173990.3 TMEM218 100.00 1 NM_001258244.2 TMEM231 100.00 1 NM_001077418.3 TMEM237 100.00 1 NM_001044385.3 TOGARAM1 100.00 1 NM_001308120.2 TRAF3IP1 100.00 1 NM_015650.4 TXNDC15 100.00 1 NM_024715.4 WDR35 100.00 1 NM_020779.4 -
Panel Nephro-ULG-V1
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 97.24 0 , ACTG2 100.00 0 , ACTN4 100.00 0 , ADAMTS13 96.63 0 , ADAMTS9 100.00 0 , ADCY10 100.00 0 , AGT 100.00 0 , AGTR1 100.00 0 , AGXT 100.00 0 , ALDOB 100.00 0 , ALG5 100.00 0 , ALG8 100.00 0 , ALG9 99.28 0 , ALMS1 100.00 0 , ALPL 100.00 0 , AMN 86.23 0 , ANKS6 91.46 0 , ANLN 100.00 0 , ANOS1 94.70 0 , AP2S1 100.00 0 , APOA1 100.00 0 , APOL1 100.00 0 , APRT 100.00 0 , AQP2 100.00 0 , ARHGAP24 99.80 0 , ARHGDIA 100.00 0 , ARL6 100.00 0 , ATP6V0A4 100.00 0 , ATP6V1B1 100.00 0 , ATP7B 100.00 0 , ATXN10 99.92 0 , AVIL 100.00 0 , AVPR2 100.00 0 , B2M 100.00 0 , B9D1 100.00 0 , B9D2 100.00 0 , BBIP1 100.00 0 , BBS1 100.00 0 , BBS10 100.00 0 , BBS12 100.00 0 , BBS2 100.00 0 , BBS4 100.00 0 , BBS5 100.00 0 , BBS7 100.00 0 , BBS9 100.00 0 , BICC1 99.81 0 , BMP4 100.00 0 , BMP7 100.00 0 , BNC2 100.00 0 , BSND 100.00 0 , C3 100.00 0 , CA2 100.00 0 , CASR 100.00 0 , CC2D2A 100.00 0 , CD151 100.00 0 , CD2AP 100.00 0 , CD46 100.00 0 , CDC5L 100.00 0 , CDC73 100.00 0 , CENPF 100.00 0 , CEP164 100.00 0 , CEP290 99.95 0 , CEP41 100.00 0 , CEP55 100.00 0 , CEP83 100.00 0 , CFB 100.00 0 , CFH 100.00 0 , CFHR1 95.06 0 , CFHR3 99.44 0 , CFHR5 100.00 0 , CFI 100.00 0 , CHD1L 99.95 0 , CHD7 100.00 0 , CHRM3 100.00 0 , CHRNA3 99.35 0 , CLCN5 100.00 0 , CLCNKA 100.00 0 , CLCNKB 100.00 0 , CLDN10 100.00 0 , CLDN16 100.00 0 , CLDN19 100.00 0 , CNNM2 99.42 0 , COL4A1 99.52 0 , COL4A3 99.47 0 , COL4A4 100.00 0 , COL4A5 99.90 0 , COL4A6 99.82 0 , COQ2 95.50 0 , COQ6 100.00 0 , COQ8A 100.00 0 , COQ8B 100.00 0 , CRB2 94.59 0 , CSPP1 100.00 0 , CTNS 100.00 0 , CTU2 98.44 0 , CUBN 100.00 0 , CUL3 100.00 0 , CYP24A1 100.00 0 , DAAM2 100.00 0 , DCDC2 100.00 0 , DGKE 100.00 0 , DHCR7 99.99 0 , DIS3L2 100.00 0 , DMP1 100.00 0 , DNAJB11 100.00 0 , DSTYK 100.00 0 , DYNC2H1 99.97 0 , DZIP1L 100.00 0 , EGF 100.00 0 , EGFR 99.63 0 , EHHADH 100.00 0 , EMP2 100.00 0 , EYA1 100.00 0 , FAH 100.00 0 , FAM20A 99.78 0 , CCNQ 82.12 0 , FAN1 100.00 0 , FAT1 100.00 0 , FGA 100.00 0 , FGF20 99.13 0 , FGF23 100.00 0 , FH 100.00 0 , FLCN 100.00 0 , FN1 99.98 0 , FRAS1 100.00 0 , FREM1 100.00 0 , FREM2 100.00 0 , FXYD2 100.00 0 , G6PC1 100.00 0 , GALT 100.00 0 , GANAB 100.00 0 , GATA3 100.00 0 , GATM 100.00 0 , GLA 100.00 0 , GLI3 100.00 0 , GLIS2 100.00 0 , GNA11 99.87 0 , GPC3 99.84 0 , GREB1L 100.00 0 , GRHPR 100.00 0 , GRIP1 100.00 0 , GSN 100.00 0 , HAAO 100.00 0 , HNF1B 100.00 0 , HNF4A 100.00 0 , HOGA1 100.00 0 , HOXA13 71.26 0 , HPRT1 97.10 0 , HPSE2 100.00 0 , HSD11B2 78.40 0 , IFT122 100.00 0 , IFT140 99.96 0 , IFT172 100.00 0 , IFT27 100.00 0 , IFT80 100.00 0 , INF2 99.98 0 , INVS 100.00 0 , IQCB1 100.00 0 , ITGA3 99.70 0 , ITGA8 99.76 0 , JAG1 99.83 0 , KANK1 100.00 0 , KANK2 100.00 0 , KANK4 100.00 0 , KCNA1 100.00 0 , KCNJ1 100.00 0 , KCNJ10 100.00 0 , KCNJ16 100.00 0 , KDM6A 99.90 0 , KL 95.50 0 , KLHL3 100.00 0 , KMT2D 100.00 0 , KYNU 99.98 0 , LAMA5 98.59 0 , LAMB2 100.00 0 , LIFR 100.00 0 , LMX1B 100.00 0 , LRIG2 99.95 0 , LRP2 100.00 0 , LRP4 99.14 0 , LRP5 97.83 0 , LRP6 100.00 0 , LYZ 100.00 0 , LZTFL1 100.00 0 , MAGED2 99.94 0 , MAGI2 93.63 0 , MAPKBP1 100.00 0 , MET 100.00 0 , MKKS 100.00 0 , MKS1 100.00 0 , MMACHC 100.00 0 , MUC1 100.00 0 , MYH9 100.00 0 , MYO1E 100.00 0 , MYOCD 100.00 0 , NADSYN1 100.00 0 , NEK8 100.00 0 , NIPBL 100.00 0 , NOTCH2 100.00 0 , NPHP1 100.00 0 , NPHP3 99.73 0 , NPHP4 100.00 0 , NPHS1 100.00 0 , NPHS2 100.00 0 , NR3C2 100.00 0 , NRIP1 100.00 0 , NUP107 100.00 0 , NUP133 100.00 0 , NUP160 100.00 0 , NUP205 100.00 0 , NUP85 100.00 0 , NUP93 100.00 0 , NXF5 0.00 0 , OCRL 99.96 0 , OFD1 100.00 0 , PAX2 100.00 0 , PBX1 100.00 0 , PCBD1 92.70 0 , PDE6D 100.00 0 , PDSS2 100.00 0 , PHEX 98.98 0 , PKD1 96.86 0 , PKD2 92.32 0 , PKHD1 100.00 0 , PLCE1 100.00 0 , PLG 100.00 0 , PLVAP 100.00 0 , PMM2 100.00 0 , PODXL 90.59 0 , PRKCSH 100.00 0 , PTPRO 100.00 0 , REN 100.00 0 , RET 99.35 0 , ROBO1 100.00 0 , ROBO2 100.00 0 , ROR2 98.01 0 , RPGRIP1L 99.18 0 , RRAGD 99.90 0 , RRM2B 100.00 0 , SALL1 100.00 0 , SARS2 100.00 0 , SCARB2 100.00 0 , SCNN1A 100.00 0 , SCNN1B 100.00 0 , SCNN1G 100.00 0 , SDCCAG8 100.00 0 , SDHB 100.00 0 , SDHD 100.00 0 , SEC61A1 100.00 0 , SEC63 99.95 0 , SGPL1 99.92 0 , SIX1 100.00 0 , SIX2 100.00 0 , SIX5 93.51 0 , SLC12A1 100.00 0 , SLC12A3 100.00 0 , SLC1A1 100.00 0 , SLC22A12 100.00 0 , SLC26A1 100.00 0 , SLC26A3 100.00 0 , SLC2A2 100.00 0 , SLC2A9 100.00 0 , SLC34A1 100.00 0 , SLC34A3 100.00 0 , SLC3A1 100.00 0 , SLC41A1 100.00 0 , SLC4A1 100.00 0 , SLC4A4 100.00 0 , SLC5A2 100.00 0 , SLC6A19 100.00 0 , SLC7A7 100.00 0 , SLC7A9 100.00 0 , NHERF1 100.00 0 , SLIT2 99.95 0 , SMARCAL1 100.00 0 , SOX17 99.26 0 , STRA6 100.00 0 , STX16 100.00 0 , TBC1D1 100.00 0 , TBC1D8B 100.00 0 , TBX18 99.84 0 , TCTN2 100.00 0 , TCTN3 100.00 0 , TFAP2A 100.00 0 , THBD 100.00 0 , TMEM138 100.00 0 , TMEM216 100.00 0 , TMEM231 100.00 0 , TMEM237 100.00 0 , TMEM260 97.92 0 , TMEM67 100.00 0 , TRAP1 95.57 0 , TRIM32 100.00 0 , TRIM8 100.00 0 , TRPC6 100.00 0 , TRPM6 100.00 0 , TSC1 100.00 0 , TSC2 100.00 0 , TTC21B 50.00 0 , TTC8 100.00 0 , TTR 100.00 0 , TULP3 100.00 0 , UMOD 100.00 0 , UPK3A 100.00 0 , VHL 100.00 0 , VIPAS39 100.00 0 , VPS33B 100.00 0 , WBP11 100.00 0 , WDPCP 100.00 0 , WDR19 100.00 0 , WDR35 100.00 0 , WDR73 100.00 0 , WNK1 100.00 0 , WNK4 100.00 0 , WNT4 93.15 0 , WNT5A 88.79 0 , WT1 95.16 0 , XDH 100.00 0 , XPNPEP3 100.00 0 , XPO5 99.80 0 , ZIC3 100.00 0 , ZMYM2 99.97 0 , ZNF423 100.00 0 , -
Polycystic kidney (2 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments PKD1 PKD2