SLC41A1

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Name:	solute carrier family 41 member 1
Symbol:	SLC41A1
XREF(s):	OMIM HGNC ORPHANET
Created:	20 Dec 2022 - 14:25
Changed:	20 Dec 2022 - 14:26

Related Genetic Tests

• Ciliopathy / polycystic kidney and liver diseases / ADTKD/ nephronophtisis / Bardet-Biedl syndromes and kidney cancers (gene panel)
• End-stage renal disease, ESRD (gene panel)
• Inherited Kidney Diseases (Gene Panel)
• Nephrogenetics / Nephropathy (gene panel)
• Tubulopathy (gene panel)

Related Gene Panels

• Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
  Details

  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

• End-stage renal disease (106 genes) - IPG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACTN4	100.00	1	NM_004924.6
  AGT	100.00	1	NM_001384479.1
  AGXT	100.00	1	NM_000030.3
  AHI1	100.00	1	NM_001134831.2
  ALMS1	100.00	1	NM_001378454.1
  ANKFY1	100.00	1	NM_001330063.2
  ANLN	100.00	1	NM_018685.5
  APOL1	100.00	1	NM_003661.4
  APRT	100.00	1	NM_000485.3
  ARHGAP24	100.00	1	NM_001025616.3
  ARHGDIA	100.00	1	NM_004309.6
  AVIL	100.00	1	NM_006576.4
  BNC2	100.00	1	NM_017637.6
  BSND	100.00	1	NM_057176.3
  CC2D2A	100.00	1	NM_001378615.1
  CD151	100.00	1	NM_004357.5
  CD2AP	100.00	1	NM_012120.3
  CEP164	100.00	1	NM_014956.5
  CEP290	100.00	1	NM_025114.4
  CEP83	100.00	1	NM_016122.3
  CFHR5	100.00	1	NM_030787.4
  CLCN5	100.00	1	NM_001127898.4
  CLCNKA	100.00	1	NM_004070.4
  CLCNKB	100.00	1	NM_000085.5
  COL4A3	100.00	1	NM_000091.5
  COL4A4	100.00	1	NM_000092.5
  COL4A5	100.00	1	NM_033380.3
  COL4A6	100.00	1	NM_033641.4
  COQ8B	100.00	1	NM_024876.4
  CPT2	100.00	1	NM_000098.3
  CRB2	100.00	1	NM_173689.7
  CTNS	100.00	1	NM_004937.3
  DCDC2	100.00	1	NM_016356.5
  DGKE	100.00	1	NM_003647.3
  DNAJB11	100.00	1	NM_016306.6
  DSTYK	100.00	1	NM_015375.3
  DZIP1L	100.00	1	NM_173543.3
  EHHADH	100.00	1	NM_001966.4
  EMP2	100.00	1	NM_001424.6
  FAN1	100.00	1	NM_014967.5
  FN1	100.00	1	NM_212482.4
  GANAB	100.00	1	NM_198334.3
  GAPVD1	100.00	1	NM_001282680.3
  GATM	100.00	1	NM_001482.3
  GLIS2	100.00	1	NM_032575.3
  GON7	100.00	1	NM_032490.5
  GSN	100.00	1	NM_198252.3
  HNF1B	100.00	1	NM_000458.4
  IFT140	100.00	1	NM_014714.4
  IFT43	100.00	1	NM_001102564.3
  INF2	100.00	1	NM_022489.4
  INVS	100.00	1	NM_014425.5
  IQCB1	100.00	1	NM_001023570.4
  JAG1	100.00	1	NM_000214.3
  LAGE3	100.00	1	NM_006014.5
  LAMB2	100.00	1	NM_002292.4
  LMX1B	100.00	1	NM_001174147.2
  LZTFL1	100.00	1	NM_020347.4
  MAGI2	100.00	1	NM_012301.4
  MAPKBP1	100.00	1	NM_014994.3
  MEFV	100.00	1	NM_000243.3
  MMUT	100.00	1	NM_000255.4
  MYO1E	100.00	1	NM_004998.4
  MYOCD	100.00	1	NM_001146312.3
  NDUFAF6	100.00	1	NM_152416.4
  NEK8	100.00	1	NM_178170.3
  NOS1AP	100.00	1	NM_014697.3
  NPHP1	100.00	1	NM_001128178.3
  NPHP3	100.00	1	NM_153240.5
  NPHP4	100.00	1	NM_015102.5
  NPHS1	100.00	1	NM_004646.4
  NPHS2	100.00	1	NM_014625.4
  NUP107	100.00	1	NM_020401.4
  NUP133	100.00	1	NM_018230.3
  NUP160	100.00	1	NM_015231.3
  NUP205	100.00	1	NM_015135.3
  NUP85	100.00	1	NM_024844.5
  NUP93	100.00	1	NM_014669.5
  OSGEP	100.00	1	NM_017807.4
  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
  PLCE1	100.00	1	NM_016341.4
  PTPRO	100.00	1	NM_030667.3
  RPGRIP1L	96.00	1	NM_015272.5
  SDCCAG8	100.00	1	NM_006642.5
  SGPL1	100.00	1	NM_003901.4
  SLC34A1	100.00	1	NM_003052.5
  SLC37A4	100.00	1	NM_001164279.2
  SLC41A1	100.00	1	NM_173854.6
  SMARCAL1	100.00	1	NM_014140.4
  TBC1D8B	100.00	1	NM_017752.3
  TMEM231	100.00	1	NM_001077418.3
  TMEM67	100.00	1	NM_153704.6
  TP53RK	100.00	1	NM_033550.4
  TPRKB	100.00	1	NM_016058.5
  TRAF3IP1	100.00	1	NM_015650.4
  TRPC6	100.00	1	NM_004621.6
  TSC1	100.00	1	NM_000368.5
  TSC2	100.00	1	NM_000548.5
  TTC21B	100.00	1	NM_024753.5
  WDR19	100.00	1	NM_025132.4
  WT1	100.00	1	NM_024426.6
  XPNPEP3	100.00	1	NM_022098.4
  YRDC	100.00	1	NM_024640.4

• Nephropathy panel - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACE	99.98	1
  ACTG2	99.99	1
  ACTN4	100.00	1
  ADAMTS13	100.00	1
  ADAMTS9	99.94	1
  ADCY10	99.77	1
  AGXT	100.00	1
  AGTR1	99.97	1
  AHI1	99.86	1
  ALDOB	100.00	1
  ALG1	86.66	1
  ALG8	95.49	1
  ALG9	99.73	1
  ALMS1	99.90	1
  ALPL	99.88	1
  ABCD1	100.00	1
  ANKS6	100.00	1
  ANLN	99.85	1
  ANOS1	99.96	1
  AP2S1	99.98	1
  APOA1	100.00	1
  APOA2	99.84	1
  APOL1	99.99	1
  APRT	100.00	1
  AQP2	100.00	1
  ARHGAP24	99.86	1
  ARHGDIA	100.00	1
  ARL13B	99.53	1
  ARL6	99.90	1
  ARSA	99.99	1
  ATP6V0A4	99.93	1
  ATP6V1B1	99.98	1
  ATP7B	100.00	1
  NLRP3	100.00	1
  AVPR2	100.00	1
  B9D1	99.80	1
  B9D2	99.88	1
  BBIP1	99.99	1
  BBS1	100.00	1
  BBS10	99.98	1
  BBS12	100.00	1
  BBS2	99.90	1
  BBS4	99.88	1
  BBS5	99.00	1
  BBS7	99.42	1
  BBS9	99.75	1
  BICC1	99.76	1
  BMP4	100.00	1
  BMP7	100.00	1
  BSND	99.92	1
  C3	100.00	1
  C5	99.92	1
  CA2	99.62	1
  CACNA1S	99.96	1
  CASR	99.99	1
  CC2D2A	99.95	1
  CCDC39	99.74	1
  CCNQ	99.98	1
  CD151	100.00	1
  CD2AP	99.69	1
  CD46	99.86	1
  CDC5L	99.83	1
  CDKN1C	100.00	1
  CEP104	99.99	1
  CEP120	99.90	1
  CEP164	99.99	1
  CEP290	98.10	1
  CEP41	99.99	1
  CEP83	98.68	1
  CFAP418	100.00	1
  CFB	99.97	1
  CFH	99.12	1
  CFHR1	84.44	1
  CFHR2	90.26	1
  CFHR3	91.62	1
  CFHR4	99.86	1
  CFHR5	99.68	1
  CFI	99.87	1
  CHD1L	98.53	1
  CHD7	99.99	1
  CHRM3	100.00	1
  CHRNA3	99.95	1
  CLCN5	99.67	1
  CLCN7	99.99	1
  CLCNKA	99.98	1
  CLCNKB	99.98	1
  CLDN10	99.97	1
  CLDN16	99.98	1
  CLDN19	99.02	1
  CNNM2	99.94	1
  COL4A1	99.99	1
  COL4A3	99.94	1
  COL4A4	99.95	1
  COL4A5	99.64	1
  COQ2	99.90	1
  COQ6	99.94	1
  COQ7	100.00	1
  COQ8A	100.00	1
  COQ8B	99.94	1
  COQ9	99.62	1
  CPLANE1	99.81	1
  CPT2	99.65	1
  CRB2	99.95	1
  CSPP1	98.31	1
  CTNS	100.00	1
  CUBN	99.99	1
  CUL3	99.76	1
  CYP11B2	100.00	1
  CYP24A1	100.00	1
  DAAM2	99.99	1
  DCDC2	99.96	1
  DGKE	99.10	1
  DMP1	99.99	1
  DNAJB11	99.97	1
  DSTYK	99.83	1
  DYNC2H1	99.66	1
  DYNC2I1	99.99	1
  DZIP1L	98.46	1
  EGF	99.96	1
  EGFR	99.68	1
  EHHADH	99.99	1
  EMP2	100.00	1
  ENPP1	99.88	1
  EVC	99.95	1
  EVC2	99.97	1
  EYA1	99.81	1
  FANCA	99.98	1
  FAHD2A	100.00	1
  FAM186B	99.99	1
  FAM20A	100.00	1
  FAN1	99.73	1
  FAT1	99.99	1
  FGA	99.98	1
  FGF20	99.71	1
  FGF23	100.00	1
  FGFR1	100.00	1
  FH	99.95	1
  FLCN	99.51	1
  FN1	99.95	1
  FRAS1	99.97	1
  FREM1	99.98	1
  FREM2	99.97	1
  FXYD2	100.00	1
  G6PC1	99.93	1
  GALNT3	99.52	1
  GALT	100.00	1
  GANAB	99.97	1
  GATA3	99.96	1
  GATM	99.92	1
  GDNF	99.99	1
  GLA	99.90	1
  GLI3	100.00	1
  GLIS2	100.00	1
  GNA11	99.99	1
  GON7	99.92	1
  GPC3	99.60	1
  GRHPR	99.93	1
  GRIP1	99.83	1
  GSN	99.93	1
  HNF1B	100.00	1
  HNF4A	100.00	1
  HOGA1	100.00	1
  HPRT1	97.80	1
  HPSE2	100.00	1
  HSD11B2	99.99	1
  IFT122	99.98	1
  IFT140	100.00	1
  IFT172	99.98	1
  IFT27	100.00	1
  IFT43	99.97	1
  IFT80	99.69	1
  IFT81	94.64	1
  INCENP	99.99	1
  INF2	99.99	1
  INPP5E	99.85	1
  INVS	99.94	1
  IQCB1	99.72	1
  ITGA3	99.86	1
  ITGA8	99.95	1
  ITGB4	99.99	1
  JAG1	100.00	1
  KANK1	99.99	1
  KANK2	99.99	1
  KANK4	99.70	1
  KCNA1	100.00	1
  KCNJ1	100.00	1
  KCNJ10	99.98	1
  KIAA0586	95.75	1
  KIF14	97.80	1
  KIF7	100.00	1
  KL	99.98	1
  KLHL3	99.97	1
  LAGE3	99.99	1
  LAMB2	99.99	1
  LMNA	99.96	1
  LMX1B	100.00	1
  LRIG2	97.97	1
  LRP2	99.86	1
  LRP5	99.95	1
  LRP6	99.91	1
  LYZ	99.86	1
  LZTFL1	100.00	1
  MAGED2	99.98	1
  MAGI2	99.89	1
  MAPKBP1	99.98	1
  MET	99.97	1
  MKKS	100.00	1
  MKS1	99.92	1
  MMACHC	99.98	1
  MUC1	99.98	1
  MYH9	99.95	1
  MYO1E	99.94	1
  NEIL1	99.99	1
  NEK1	99.83	1
  NEK9	99.99	1
  NOTCH2	99.03	1
  NPHP1	99.05	1
  NPHP3	99.89	1
  NPHP4	99.98	1
  NPHS1	99.97	1
  NPHS2	99.87	1
  NR3C2	100.00	1
  NUP107	97.46	1
  NUP133	99.45	1
  NUP205	99.92	1
  NUP93	99.87	1
  NXF5	96.29	1
  OCRL	99.89	1
  OFD1	99.68	1
  PAX2	99.99	1
  PAX8	99.99	1
  PBX1	99.88	1
  PCBD1	99.84	1
  PDE6D	99.94	1
  PDSS1	95.70	1
  PDSS2	99.87	1
  PHEX	99.83	1
  PKD1	99.98	1
  PKD2	99.91	1
  PKHD1	99.95	1
  PLCE1	99.98	1
  PLG	99.89	1
  PMM2	99.93	1
  PRKCSH	99.99	1
  PSAP	99.94	1
  PTEN	99.89	1
  PTPRO	99.91	1
  PYGM	99.96	1
  RBM48	99.09	1
  RCOR1	99.97	1
  REN	99.85	1
  RET	99.97	1
  ROBO2	99.80	1
  RPGRIP1	99.95	1
  RPGRIP1L	96.35	1
  RRM2B	99.97	1
  SALL1	100.00	1
  SALL4	100.00	1
  SARS2	99.99	1
  SCARB2	99.99	1
  SCNN1A	100.00	1
  SCNN1B	99.38	1
  SCNN1G	99.94	1
  SDCCAG8	100.00	1
  SDHB	97.32	1
  SDHD	82.93	1
  SEC61A1	99.99	1
  SEC63	99.84	1
  SGPL1	99.95	1
  SIX1	100.00	1
  SIX2	100.00	1
  SIX5	100.00	1
  SLC12A1	99.90	1
  SLC12A3	99.84	1
  SLC22A12	99.99	1
  SLC26A1	100.00	1
  SLC26A3	99.97	1
  SLC2A2	99.96	1
  SLC2A9	99.98	1
  SLC34A1	99.99	1
  SLC34A3	100.00	1
  SLC37A4	99.90	1
  SLC3A1	99.98	1
  SLC41A1	99.98	1
  SLC4A1	99.94	1
  SLC4A4	99.97	1
  SLC7A9	99.97	1
  NHERF1	100.00	1
  SMARCAL1	99.97	1
  SOX17	100.00	1
  SRGAP1	99.68	1
  STRADA	99.98	1
  STX16	100.00	1
  SYNPO	100.00	1
  TBC1D1	99.96	1
  TBC1D8B	99.31	1
  TBX18	99.50	1
  TCTN1	99.92	1
  TCTN2	99.99	1
  TCTN3	99.92	1
  THBD	100.00	1
  TMEM107	100.00	1
  TMEM138	100.00	1
  TMEM216	99.98	1
  TMEM231	88.88	1
  TMEM237	99.30	1
  TMEM67	99.69	1
  TNFRSF25	99.98	1
  TNXB	90.86	1
  TP53RK	81.09	1
  TRAP1	100.00	1
  TRIM32	100.00	1
  TRPC6	99.99	1
  TRPM6	99.93	1
  TSC1	99.99	1
  TSC2	99.98	1
  TTC21B	99.50	1
  TTC8	99.67	1
  UMOD	99.98	1
  UPK3A	100.00	1
  UPK3B	99.62	1
  VDR	99.86	1
  VHL	100.00	1
  VIPAS39	99.87	1
  VPS33B	99.95	1
  WDPCP	99.87	1
  WDR19	99.80	1
  WDR35	99.92	1
  WDR4	99.95	1
  WDR73	99.92	1
  WNK1	99.98	1
  WNK4	99.98	1
  WNT4	99.94	1
  WT1	99.99	1
  XDH	99.97	1
  XPNPEP3	99.99	1
  XPO5	99.89	1
  YRDC	99.85	1
  ZMPSTE24	98.70	1
  ZMYM2	99.88	1
  ZNF423	98.94	1

• Panel Nephro-ULG-V1
  Details

  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	,

• Tubulopathy/Nephrolithiasis (106 genes) - IPG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ADCY10	100.00	1	NM_018417.6
  AGXT	100.00	1	NM_000030.3
  ALDOB	100.00	1	NM_000035.4
  ALPL	100.00	1	NM_000478.6
  AP2S1	100.00	1	NM_004069.6
  AQP2	100.00	1	NM_000486.6
  ATP6V0A4	100.00	1	NM_020632.3
  ATP6V1B1	100.00	1	NM_001692.4
  ATP7B	100.00	1	NM_000053.4
  AVPR2	100.00	1	NM_000054.7
  BSND	100.00	1	NM_057176.3
  CASR	100.00	1	NM_000388.4
  CLCN5	100.00	1	NM_001127898.4
  CLCNKB	100.00	1	NM_000085.5
  CLDN10	100.00	1	NM_006984.5
  CLDN16	100.00	1	NM_006580.4
  CLDN19	100.00	1	NM_148960.3
  CNNM2	100.00	1	NM_017649.5
  CTNS	100.00	1	NM_004937.3
  CUL3	100.00	1	NM_003590.5
  CYP24A1	100.00	1	NM_000782.5
  EGF	100.00	1	NM_001963.6
  EGFR	100.00	1	NM_005228.5
  EHHADH	100.00	1	NM_001966.4
  FAH	100.00	1	NM_000137.4
  FAN1	100.00	1	NM_014967.5
  FGF23	100.00	1	NM_020638.3
  FXYD2	100.00	1	NM_001680.5
  G6PC1	100.00	1	NM_000151.4
  GALT	100.00	1	NM_000155.4
  GATM	100.00	1	NM_001482.3
  GNA11	100.00	1	NM_002067.5
  GRHPR	100.00	1	NM_012203.2
  HNF1B	100.00	1	NM_000458.4
  HOGA1	100.00	1	NM_138413.4
  HSD11B2	100.00	1	NM_000196.4
  KCNJ1	100.00	1	NM_153766.3
  KCNJ10	100.00	1	NM_002241.5
  KLHL3	100.00	1	NM_017415.3
  MAGED2	100.00	1	NM_177433.3
  NR3C2	100.00	1	NM_000901.5
  OCRL	100.00	1	NM_000276.4
  PCBD1	100.00	1	NM_000281.4
  PHEX	100.00	1	NM_000444.6
  REN	100.00	1	NM_000537.4
  SCNN1A	100.00	1	NM_001038.6
  SCNN1B	100.00	1	NM_000336.3
  SCNN1G	100.00	1	NM_001039.4
  SEC61A1	100.00	1	NM_013336.4
  SLC12A1	100.00	1	NM_000338.3
  SLC12A3	100.00	1	NM_001126108.2
  SLC2A2	100.00	1	NM_000340.2
  SLC34A1	100.00	1	NM_003052.5
  SLC34A3	100.00	1	NM_001177316.2
  SLC3A1	100.00	1	NM_000341.4
  SLC4A1	100.00	1	NM_000342.4
  SLC4A4	100.00	1	NM_001098484.3
  SLC5A2	100.00	1	NM_003041.4
  SLC7A9	100.00	1	NM_014270.5
  NHERF1	100.00	1	NM_004252.5
  TRPM6	100.00	1	NM_017662.5
  UMOD	100.00	1	NM_003361.4
  VDR	100.00	1	NM_000376.3
  VIPAS39	100.00	1	NM_001193315.2
  VPS33B	100.00	1	NM_018668.5
  WNK1	100.00	1	NM_018979.4
  WNK4	100.00	1	NM_032387.5
  AGTR1	100.00	1	NM_000685.5
  APRT	100.00	1	NM_000485.3
  CA2	100.00	1	NM_000067.3
  CACNA1H	100.00	1	NM_021098.3
  CLCN2	100.00	1	NM_004366.6
  CLCNKA	100.00	1	NM_004070.4
  CYP11B1	100.00	1	NM_000497.4
  CYP17A1	100.00	1	NM_000102.4
  DMP1	100.00	1	NM_004407.4
  ENPP1	100.00	1	NM_006208.3
  FANCA	100.00	1	no
  FAM20A	100.00	1	NM_017565.4
  FOXI1	100.00	1	NM_012188.5
  HNF1A	100.00	1	NM_000545.8
  HNF4A	100.00	1	NM_175914.5
  HPRT1	100.00	1	NM_000194.3
  KCNJ16	100.00	1	NM_170741.4
  KCNJ5	100.00	1	NM_000890.5
  KL	100.00	1	NM_004795.4
  LAGE3	100.00	1	NM_006014.5
  LDHD	100.00	1	NM_194436.3
  LRP2	100.00	1	NM_004525.3
  MEN1	100.00	1	NM_001370259.2
  MOCOS	100.00	1	NM_017947.4
  PRPS1	100.00	1	NM_002764.4
  SLC16A12	100.00	1	NM_213606.4
  SLC22A12	100.00	1	NM_144585.4
  SLC2A9	100.00	1	NM_020041.3
  SLC36A2	100.00	1	NM_181776.3
  SLC5A1	100.00	1	NM_000343.4
  SLC6A19	100.00	1	NM_001003841.3
  SLC6A20	100.00	1	NM_020208.4
  WDR72	100.00	1	NM_182758.4
  WFS1	100.00	1	NM_006005.3
  XDH	100.00	1	NM_000379.4
  AGT	100.00	1	NM_001384479.1
  CDC73	100.00	1	NM_024529.5
  RRAGD	100.00	1	NM_021244.5
  SLC26A1	100.00	1	NM_022042.4
  SLC41A1	100.00	1	NM_173854.6