Einzelgen-Diagnostik
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ABCA4
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ACADVL
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ACVRL1
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ADGRV1
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AGXT
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AICDA
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AKT1
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APOB
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APP
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ATP2A2
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ATP6AP2
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ATP7B
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AZF-Loci (AZF-a, AZF-b, AZF-c)
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BMPR1A
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CACNA1A
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CCM2
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CDC73
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CDKN1B
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CEP290 (NPHP6)
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CLCN1
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CLDN2
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COL11A1
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COL2A1
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COL3A1
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COL4A3
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COL4A4
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COL4A5
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COL5A1
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COL5A2
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CRTAP
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CYP11B1
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CYP21A2
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DPYD
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DYSF
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EDN3
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EDNRB
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ENG
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ERCC6
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ERCC8
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ETFDH
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F10
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FANCA
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FBN1
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FLG
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FLT4
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FMO3
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FRMD7
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FSHR
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G6PD
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GBA
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GCDH
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GDF2
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GDNF
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GJB2
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GJB6
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GLA
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GLRA1
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GLRB
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GPR143
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GREM1
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GRHPR
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HAMP
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HCN4
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HFE
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HFE2
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HOGA1
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HOXB13
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HSD3B2
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HTRA1
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IFITM5
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IKBKG
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INPP5E
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INVS (NPHP2)
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IQCB1 (NPHP5)
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JAG1
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KCNQ2
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KRIT1
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LDLR
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LDLRAP1
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LEPRE1
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LMX1B
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LZTR1
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MECP2
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MYH6
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NF1
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NF2
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NOTCH2
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NOTCH3
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NPHP3
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NPHP4
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NPHS2
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OAT
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OFD1
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PAH
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PAX3
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PCARE
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PCSK9
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PDCD10
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PIK3CA
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PLOD1
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POLD1
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PRKAR1A
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PROC
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PROS1
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PRPH2
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PRSS1
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PSEN1
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PSEN2
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RB1
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RP11
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RPGR
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RPGRIP1L (NPHP8)
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SCN4A
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SERPINA1
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SERPINF1
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SERPING1
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SERPINH1
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SGCE
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SLC12A3
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SLC3A1
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SLC40A1
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SLC45A2
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SLC6A5
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SLC7A9
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SMARCB1
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SMC1A
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SOS1
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SPAST
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SPINK1
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SPR
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STS
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TARDBP
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TFR2
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TGM1
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TGM5
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THAP1
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TMEM67 (NPHP11)
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TNFRSF1A
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TNNI3
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TNNT2
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TOR1A
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TRPV6
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TSC1
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TSC2
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TTR
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USH2A