HP:0000365: Hearing impairment

Genes 2076

TWIST1 VPS11 CTBP1 ELMO2 CHD7 TCIRG1 MICOS13 FRG1 AMMECR1 KCNAB2 SPRY4 TCOF1 FGFR3 COX1 TBL1Y XPA FGFR3 DMXL2 DNAH1 POLG NF1 ERCC3 EYA4 KCNJ11 SOST CLRN1 ECHS1 MOGS COL2A1 NDUFS7 SPRY4 PCYT1A TACR3 NSD1 FGFR3 BPNT2 FGF17 PUS7 ARHGEF6 SHOC2 RDH12 HCCS RAB3GAP2 DMD SF3B4 GLA NR5A1 ATP8 TRNL1 NDUFS3 EYA4 MCM2 BPTF ANOS1 USH1C ARX DNMT1 ERCC3 FHL2 SIX1 CDC14A CEP57 FGFR3 XRCC4 BMP15 SLC7A14 BCOR KIT PHYH MRAS SLX4 MITF GLB1 KCNC3 SUFU GNRHR CHRNG BCOR KMT2D WDR11 SARDH BBS4 SLC19A2 HGSNAT SERAC1 COL2A1 NFIX BUB3 DHODH DDX3X ATRX HOXA2 ARSA SQSTM1 PLP1 TRMU FANCI TNNT2 PEX7 NDUFV1 RFC1 EDNRB FLRT3 SLC25A11 ARSA IQCB1 TMEM132E SOX9 SALL4 SOST SDHA DGUOK ANKH UFD1 LETM1 NUP107 NDUFAF3 TMEM126B HACE1 TWNK TARDBP GRHL2 RAC1 FGFR1 DNMT1 ATP6V1B2 SDHD TTC19 FOXJ1 FANCE KITLG DLST WHRN COX6B1 RPGR DCC COX14 TRNW PEX2 EP300 POU3F4 ALX3 DNAL1 ANKRD11 DEAF1 SIN3A TAF1A PDE4D COL4A3 HESX1 HESX1 PCDH15 ZFP57 FGFR2 TWIST1 TULP1 SMAD4 ERCC3 EFTUD2 DCHS1 NDUFV1 NOP56 C8ORF37 CAP2 BTD BCR IQSEC2 CARS2 SOX10 CERKL CREBBP ERCC2 OTUD6B MN1 CTSA DCC TRNS1 DNAJC21 SMCHD1 SOST SLC25A1 ATP6V1B2 DUSP6 FGFR3 HBB ABCA12 ATRX NALCN COCH ND6 AKT1 RRM2B DNMT3A TERT NSD2 MAD2L2 MED12 ARSL ERCC4 VPS13B PDZD7 TMC1 PRPF4 TRNL1 GUCY2D RAF1 TANGO2 SPNS2 PEX13 SMARCE1 TTC8 SLC18A3 OSBPL2 CHSY1 MTFMT MEOX1 PHEX LARS2 NDUFB3 PBX1 KCNJ10 USP7 HUWE1 PTEN RPL10 NDUFAF3 LEMD3 RIT1 NOG NIPAL4 PSMC3IP CDC45 POU3F4 TNFRSF11A HGSNAT FAT4 PRKAR1A LRP4 GRHL3 NUS1 ERCC4 TRNF ND6 ARHGEF18 NR2F1 RP1 MED12 PALB2 KISS1R NDUFS7 CRYM PDE6D SDHD NLRP12 CATSPER2 PRDM5 SH3TC2 CHCHD10 ACSL4 RTTN MCIDAS ABCC8 SC5D SDHB GBA2 EPS8 MANBA A2ML1 POLG WNT10B TACO1 SMARCD1 SDHB BEAN1 TRNF RPS6KA3 ALMS1 GUCA1B PDE6G CCDC28B ND3 PIGL CDK5RAP2 AMER1 VHL SPATA5 FGFR3 TUBB3 CIB2 FUS PRDM16 FZD2 MANBA TBCK GMNN COL11A2 COLEC11 OFD1 PEX13 SMCHD1 MBTPS2 RREB1 PDE6B PEX11B SDHC KCNQ1 LRP5 HOXA11 PEX7 C1QBP CFAP298 PHOX2B RFT1 ABCD1 PEX3 NAGA FAT4 TBC1D24 PITX2 PRDM16 PIEZO2 ALG12 RET ACTB KCNJ10 HTRA2 PEX19 NDUFS1 PEX1 ITGA2 SEM1 SPATA7 TRMT10A POMK NXN RPE65 MKS1 GALNS IGF1 COL4A3 SOX10 CYTB NAGLU COA8 MAN2B1 KCNJ11 SMARCB1 RECQL4 COQ8A MYO7A PPP2R3C CCDC39 ARMC4 VPS37A PSMD12 BCOR CNTNAP1 CNKSR2 NEU1 ERCC5 SOX10 MTHFD1 COX10 LRP2 DNAI1 GLI3 FLNA PTPN22 PEX2 COL1A2 TWNK KYNU NAA10 EDN3 MITF PIK3CA CCBE1 GJB1 COL11A2 PTPRQ SOX2 WDPCP SDHA EXOSC2 FGFR2 TBX4 UBR1 EBP PCDH15 OTOGL GP1BB SOST REV3L COL4A6 COLEC11 TPRN BBS12 EPRS1 LMX1A SYNE4 RAD51 SLC26A2 GLYCTK PTCHD1 ACSL4 PDK3 CERT1 TACO1 PGAP2 USH1C ATN1 COL4A4 PEX11B PCNT RRM2B EYS ADAT3 LIG4 IDUA TRNS1 LRTOMT IFT27 TWIST1 ERCC6 ERCC3 WBP2 FGFR2 SMC3 EPG5 TBK1 TNFRSF11A NDUFV2 PSEN2 TRNP WHRN BRAF CRKL SQSTM1 SCN5A BBS7 COLEC10 HOXB1 GJB2 TRIOBP GJB6 TCOF1 HARS2 SNAP29 RPS23 GIPC3 HOMER2 TBX22 ADAMTS3 APC ACTB RAD51C ELMOD3 NDUFS4 PAK3 OAT TNFRSF11B CDC42 TRNL1 DUSP6 GJB2 TBX1 SLC4A11 TBL1XR1 USH2A DPH1 RP2 SETD5 OTUD6B EPS8L2 LZTR1 IFT172 BMP4 GJB6 SMCHD1 PRPS1 POGZ MYO6 PRPS1 TINF2 WNT5A NMNAT1 ND4 FAM161A MGAT2 RPE65 CNTNAP2 DMXL2 BTRC PARN PEX10 ACY1 COL11A1 UBB KDSR TTC25 DMD PRKAR1A TMC1 TRAPPC4 HOXA11 NDUFB9 OTOF MERTK NRTN NDUFA13 PERP TRNV COL2A1 PSAP GNRH1 TPM2 RRAS IARS2 FAS KIF7 TP63 IFT172 NDUFB11 RAI1 RPL11 GALE CRX EXOSC8 RNASET2 MRPS2 GPRASP2 COL9A1 GTF2E2 FAT4 ANTXR1 KDM6A RPS6KA3 NUBPL SNX14 RSPH1 LRP4 NDUFS1 GLI3 PDGFRB PJVK LIMK1 LIPT1 SOX3 MARS2 MRAS SUCLA2 PSEN1 PSAP RPS28 NARS2 AFF4 FSHR SURF1 PRPF6 FGFR2 AMMECR1 NOTCH3 ARL6 PRPH2 ELN NDUFS8 MED12 MYH3 TWIST2 RRM2B GJB3 CHRNG TRNC FGFRL1 GJB2 PAX3 TBX1 NRAS DNAH9 ORC6 SALL4 TMPRSS3 RUNX2 BTK ZNF408 ALG11 ACY1 RSPH4A NSDHL XPC AIFM1 AIPL1 NDUFV2 ERCC8 TBX15 SLC5A7 USH2A ROR2 TWIST2 POLG CCDC65 TRNQ MORC2 POLR1D NLRP3 IL1RAPL1 GJA1 ATRX CLIC5 GPSM2 ARSG GJB2 FOXI1 EYA1 SLC4A11 MYD88 COL13A1 RIPOR2 LRP2 PEX1 MYSM1 SLC17A8 NDUFB10 FRAS1 EDN3 SDHD SOX2 SKI FMR1 GP1BB PITX2 RERE COL2A1 ROBO3 CTSA GZF1 COL11A2 MAPK1 MASP1 EXT1 TMPO ATP6V1B2 CNGB1 ASPM ESPN ABHD5 TRNS1 FIBP UBR1 DNAAF6 CCDC141 CPLANE1 IFT140 PUS3 TSPAN7 CCDC141 PTPRQ POLR1C RAI1 TNFRSF11B SEMA3D STAMBP FGFR2 DCAF17 HLA-DPB1 COL27A1 TNFRSF11A DHDDS RDH12 LMX1B TRNS1 ADGRV1 CSPP1 SOS2 TWNK ARSA TRNH XYLT2 PEX11B PEX6 CEP290 C9ORF72 FGFR3 RPL10 DARS2 MYO9A PEX14 RNR1 ERCC4 FLNB RHO HAND2 OTOA GJB2 KIZ PEX12 SGPL1 TWIST2 BBS10 IDUA FGFR3 ABCC8 ALOX12B NDUFA12 NSD2 BBS9 SDHA LMNA PNPLA1 GMNN FUCA1 VPS11 COA3 SUCLG1 ACVR1 LZTFL1 ABCA4 ERCC6 FGF3 BRCA2 NELFA CD151 COX1 MFN2 MYH14 GJB4 NSUN2 PAX2 GJB3 TRRAP TYMP NDRG1 PROM1 PIK3R1 BRCA1 PRTN3 DNAI1 CISD2 DNAH1 ZNF469 IDUA MET IMPDH1 SNAI2 GAA TARS1 ZNF711 PEX10 ALMS1 PRCD COX15 ELN PNPLA6 KCNE1 SLC25A24 FKBP14 KDM6A ABCB6 FAT4 EDNRB FGF17 SP7 CA4 GDI1 PIK3C2A PIEZO1 COQ6 EFNB1 BNC1 LHX3 NSD1 ERCC2 BUB1 YAP1 FOXI1 AP1S2 PCARE LRRC6 ARL6 COX2 DNAAF5 RET MYH3 COX20 TGM1 TFAP2B USP9X INTU HDAC4 SPECC1L NOG IARS1 DSG2 ROR1 FGF8 PYCR2 TWIST1 MRPS22 COL11A2 PEX2 SON AHR ADCY1 ATP1A2 TMEM38B OPA1 AMER1 USP45 DNAJC3 RRM2B ACO2 KCNE1 SCO1 NDUFAF6 PPP1CB G6PC3 TRPV4 NOP10 SURF1 FGFR1 RBM8A LSS GDF6 FTSJ1 TBX22 FGFR3 ALG11 CDH1 TAZ TRNP SRCAP TOP3A CTNNB1 DIAPH3 FGF9 TCAP DLX5 USH2A COX7B PET100 COL1A1 NAGA GJB3 SLC29A3 TXNRD2 TNFRSF11A CASK TOPORS WDR11 ATP1A3 RFT1 SCAPER EYA1 FLNA CXORF56 FKBP14 PROK2 MYO7A COL11A1 FRAS1 PEX10 EDNRB SDHC SEMA3E FANCF NECTIN1 PEX6 ITM2B KCNJ10 CHD7 VCL COX3 MAN2B1 TRNI NLRP3 TP63 SPEF2 SUCLA2 CCND1 FANCG CTNNB1 HDAC8 NIPBL ZNF469 TSHZ1 ITGA2B PTRH2 FBN1 COQ7 CDKL5 GJA1 NDUFAF5 LETM1 DHODH INS FANCI MBTPS2 TWNK TRAF7 HGF GABBR2 APC2 EYA1 FGFR1 PIGA CYP7B1 MORC2 FGF3 NRAS PNPLA2 PMPCB EPAS1 SIX5 FOXE3 PDZD7 RTEL1 PROKR2 WAC SNX10 CBL MPZL2 ASXL1 SLC44A4 MECP2 SLC29A3 TMIE GRAP CDH23 TRNN FGF10 MECOM HARS1 CEP290 NDUFAF4 DPF2 ARHGAP29 LOXL3 NOTCH2 ERCC5 EFTUD2 DACT1 TWNK ACVR1 KLLN BAG3 TTR PLXND1 TRNF GAS2L2 XPA EDNRB FGFR3 LRP4 GJC2 IDH3A TAC3 USP27X PPP1R15B PAX3 PIGT KCNN3 TBC1D24 RASA2 GDF5 DHCR7 PDE4D TK2 CACNA1A RHO POGZ IGBP1 RP9 TMEM67 SPIDR KIF7 EHMT1 PDK3 MYO7A KIAA0753 RLBP1 DNAH5 KCNJ10 RPL10 PQBP1 ACTC1 FRG1 BEAN1 FOXC1 ANKRD11 ORC4 GRIP1 NOP56 TMEM127 KAT6B ZIC1 PAX3 PTPN11 TIMMDC1 SGCD ND5 NDUFAF1 RET NDUFS3 WHCR EPS15L1 TWIST1 PRPH2 NLRP3 GUCY2D CIB2 FLNA HCCS PEPD TNC MYH9 DNAAF2 SEMA4A AP1S1 SYT2 LMNB1 NOTCH2 MAX TULP1 SNRNP200 IFT88 VAC14 KIF1B MSX1 SGMS2 ESPN VCP TRNE PEX16 GBA2 USF3 PRPS1 IFRD1 STUB1 GMPPA USP9X BBIP1 ND5 NHP2 PEX3 NDE1 CDT1 CHD7 CD109 KITLG TTN SKI IDUA TKT USP9X DLX6 PRPF31 TRNS1 MBTPS2 BTD BCS1L ACTG1 AIFM1 FLNB MYO7A BSND DKC1 TRNS2 DLX5 PDE6A TRNK PGM3 ARID2 FOXI1 FLNA FUCA1 PROKR2 KMT2D FGFR3 BCS1L CLCN4 HAAO TECTA KRAS KCNJ13 MYH7 SGSH ARID1B REEP6 GJB2 SOX9 KIAA1549 OTOG KISS1 RRAS2 CTLA4 TNNI3 NEFL BRIP1 DDX11 KCNQ1 ATRX SIX1 GATA3 COL2A1 TCF12 TYMP SALL4 KCNH1 LRP5 CHD7 COLEC10 GSC MTRR DOLK PEX1 ND4 CDH23 SLC26A4 GAS8 TRIM32 COL2A1 GJA1 COL11A2 TRNK PPIP5K2 TRNL1 RNF113A SETBP1 RAI1 SLC35A2 TFAP2A L2HGDH SEMA3E CHST14 ACTN2 ILDR1 RLBP1 EDC3 EDNRA KCNH1 PEX12 PEX10 NEK1 MAP3K7 AGBL5 CERS3 TRAPPC12 SMARCB1 COX8A PAX3 RAD21 NEDD4L CASK ERCC2 DES ALDH18A1 BEST1 FLCN RPS6KA3 SLC39A8 COL11A1 LRP12 BCS1L LAMA4 FANCA MYH9 EIF3F KLHL7 DMP1 LAMB1 WFS1 PEX12 DSE NDUFS6 ARSB RAB23 FGFR3 RDX NECTIN1 TAF1 XRCC2 CRB1 KISS1R WFS1 ASCL1 PTPN22 OFD1 OPA1 NTNG1 ABHD12 DNAAF4 BCAP31 DCAF17 MEOX1 ERCC4 OFD1 TINF2 SRP72 USH1G ARL6 GTF2IRD1 ND5 TPM1 NDUFS8 FANCB CDHR1 FGFR2 MYH3 COCH CEP57 CNGA1 FANCM DHDDS MIR96 AGRN MSRB3 TUBB4A GJB2 POLG ERCC6 NF2 TK2 GPC4 RNF13 PCDH15 DPF2 COL1A1 SUMF1 OFD1 DNMT3B SCN1A NEK2 ANKH NEBL FLRT3 MAK GALC RBM20 PHF6 CLIP2 GCK ALX3 ERCC2 BBS2 COMT POR MYO3A PEX11B GP1BA CLCN7 DNMT1 RSPH9 SLITRK6 GLIS3 SIX1 ERF TP63 POLR3H MITF MAFB GJC2 GPC4 NDUFS2 STRC MYO7A PCGF2 NEU1 ENPP1 CEP78 HIRA PEX19 DKK1 PLA2G6 BCS1L HARS1 SRY PTDSS1 CPLX1 WFS1 RAC1 DIAPH1 DVL1 TRNF SEC23B ZNF41 LRP5 CEACAM16 SOS1 RERE MDH2 GSN DNAJB13 TBC1D24 POLG PROKR2 CAT TRNL1 CHD7 SIX6 DDB2 CD164 PEX26 TRPV3 SYP NDUFA10 BCS1L PLAGL1 KCNC3 TUB ERCC6 BTK SLC26A4 ND3 SEMA3C MYH3 TGFB1 SLC9A7 PIK3R1 SBF2 SOX10 ND6 MED12 CLPP KMT2A PNPT1 COL11A1 LORICRIN RPS26 CCNO COL1A2 ARID2 NDUFA4 TIMM8A ALX1 LRRC56 EYA1 NSMF DLX4 CTC1 DNM1L FGFR2 ITGB6 TRNL1 HDAC8 NOG PEX16 THOC6 SLC33A1 ND1 OSTM1 PIK3CA DHCR7 MSX1 SNAP29 USH1C MASP1 MGP GPC4 NDUFB8 VHL ANKRD1 TCTN3 RECQL4 PEX16 MITF SNAI2 SALL4 MYBPC3 ERCC5 TFAP2A NDUFA13 CCDC50 SMPX CLCNKA ATP6V0A4 CPLANE1 CFAP221 KIF7 B3GLCT RAI1 SALL1 HCFC1 CEACAM16 ERCC1 DMXL2 COX7B STK36 BBS5 IDH3B MSTO1 LMNA GJB2 MYO6 MFN2 ND1 SDHD SLC26A4 MAP3K20 TXNL4A HS6ST1 TSPEAR NME8 TRNE ND1 GATAD1 HNF1B GAB1 BMP2 NAXD SLC39A8 COX10 EDN3 PNPT1 SLC26A5 CHSY1 EYA4 PRKDC ADPRS FANCC TNNC1 OPA1 COG1 GJB2 POU4F3 GRXCR1 MAP3K7 MARS2 DAB1 PEX6 MECP2 FXN WFS1 ANOS1 RPGR MYH14 FANCD2 SIX1 TCIRG1 CDH23 CLDN14 POLG MFN2 USH1C DVL3 POLG2 GCH1 GBA2 DGUOK BAZ1B TRNS2 NDUFS4 SIN3A CYP7B1 COL11A1 BCOR THRB CLCNKB PIGO PPCS COL4A5 BCAP31 ACTB TP63 COA8 CASK DLG1 FLNA ARID1B TMEM126A PMP22 ALOXE3 PLCB4 SOX10 COL9A3 MARVELD2 TP63 CDK8 RGR SDCCAG8 MAP2K1 CCDC151 PAX3 TRRAP GJB2 FDXR PTEN CRYAB MPDZ GNPTAB TACR3 IGBP1 CHST3 ACTG1 IRX5 ZBTB20 PIGL NDUFA6 SURF1 POLR1D MPZ SF3B4 KLHL7 PRPS1 PIGV SLC52A2 SQSTM1 RPGRIP1 ALG13 KAT6B AKT1 NFIX KRAS SLC25A24 BRAF PGM3 DUSP6 NDUFA1 ERCC2 PDHA1 BBS1 NDUFA11 PAX3 FLII LDB3 FRMPD4 MAP3K7 CCDC40 CSRP3 NSMF BBS1 COL2A1 NDUFA9 NDUFS2 ECE1 OPA1 DIABLO CHAT EDNRB ATP2B2 AMMECR1 HOXA1 C8ORF37 RECQL4 NPHP1 ARL3 GDF6 TRNK LRAT WFS1 PEX7 GABRD ADK PDE1C TP63 RSPH3 SMARCA4 FANCA SUMF1 OFD1 LHFPL5 HYDIN NOTCH3 COL11A1 KCNJ10 POMGNT1 PSAP COL11A1 SLX4 SNRPB SETD2 PNPLA2 SLC19A2 TGFB1 PEX1 PDZD7 GNAS TBL1XR1 NEXN TRAPPC11 FEZF1 PLAA TP63 IRF6 CRB1 ZNF81 DNAH11 RD3 S1PR2 HACE1 NKX2-1 SLC39A14 SPAG1 MPLKIP PDX1 PCDH15 FGFR1 FANCL ND2 COL9A2 RAF1 MAP3K7 COG7 PEX7 SIX5 IFT140 ARID1B PNPLA8 FGFR2 ECHS1 MED13L PORCN UGT1A1 PNP STRC ATP6V1B2 WRAP53 STAT3 RAB39B DNAAF1 FGF8 TRNT1 GFER PNPT1 PRDM5 TRNK UFM1 BRAF GDF5 TRNK PMP22 SOX11 PET100 NDUFAF2 PEX6 TELO2 ATP8B1 HSD17B10 DCHS1 COL2A1 GMPPB FIBP COL1A1 SHANK3 SCO2 NDUFS2 NDUFB11 MGP POLG MAN2B1 TIMMDC1 NDUFAF8 NARS2 COX3 FAM20C SDHA SNRPB MEGF8 MCTP2 PEX1 LARS1 ARVCF CRX MID2 COL9A2 MITF KIF5A SMCHD1 LRP5 FOXRED1 PRRT2 PTPN11 IQSEC2 SKI RBP3 TNFSF11 NOG ADGRV1 SDHC AAAS ZNF513 FOXRED1 GALC CREB3L1 NDUFAF4 CISD2 TRNQ B3GLCT CCDC103 CLCN7 NOG UBE2T PRPS1 REST MAF GJB6 SMC1A PEX1 EDN1 HS6ST1 PEX16 GJB2 CHCHD10 GDNF SOST COL10A1 SLC19A3 CTNND1 PORCN PEX5 MYH9 RBM10 RET SLC52A2 PEX19 RFC2 PSMD12 MYPN NOTCH3 LCA5 GJA1 RAF1 SNAP25 DSPP GAS8 FOXC1 PRPF8 SOX10 EYA1 PROKR2 DVL1 ERCC4 ACOX1 PTPN11 FGFR1 BBS2 PEX6 MYCN JMJD1C ST3GAL5 PEX13 GFER TRNS2 PEX5 NLRP3 FLNA PSAP SIX1 DVL3 NRL PAX1 NAA10 IDS POLR1C COL1A2 ND5 TRNH SDHB BUB1B TIMM8A ATP6V1B1 EYA1 CACNA1D EPG5 EHMT1 CDH11 PTPN11 DLX5 SOX4 HSPD1 CARS2 TRNS2 MKKS FLNA NDUFAF2 NDP LMNB2 ARID1A TCTN3 BRAF ABCC9 ATP1A3 PYCR2 CDC45 TK2 TRNW NR2E3 GJB2 SOX2 CDC6 TBX1 CCBE1 CDH1 SLC52A3 PPP1R15B GBA NDUFA2 ESRRB TRPS1 PIGS GSDME DDX3X AHDC1 RUNX2 GMPPA GNAS SEC24C DNAJC3 BMP4 ATP6 CEP250 FGFR2 FTO SYT2 NDUFA9 SPRY4 GJB1 NOG PRMT7 COL7A1 DCDC2 DNAAF3 SLC25A4 TPRKB CLRN1 GPC3 PLS1 LRAT CLRN1 TTC8 PAX2 FANCE SHANK3 NDUFAF5 VAMP1 AARS1 NAGA SMARCC2 GRXCR2 CATSPER2 SDHAF2 STAG2 FKTN CHST14 RFWD3 ELAC2 KARS1 ZBTB20 MYO15A ASPA UPF3B TRNQ SURF1 LHX1 SLC10A7 NIPBL NF2 HNF4A GTF2H5 CHD4 RPGR PHYH PEX26 COQ2 GNS SDHD PEX5 ARL2BP HSD17B4 RRM2B TSR2 GDF3 FH IL17RD HNF1B LONP1 PEX26 COL11A2 SNX14 TRIP13 CNOT1 SALL4 SLC26A2 CFAP300 PRPF3 FAM149B1 WHRN FIG4 SMC3 MFN2 GTF2E2 ACOX1 XPNPEP3 RERE SELENOI NRXN1 ZMYND10 TAF1 TRNV PDZD7 MLXIPL RNASEH1 FREM2 SALL1 ATP6 FGF3 PCLO FARS2 PEX12 GJA1 IGF1 PRRX1 GNAI3 PEX13 GJB6 DNAI2 ORC1 POLG LMX1B APC NEK10 SERPINB6 UBE2A PCNA YME1L1 TECTA LHX3 CHN1 VHL ATP6AP1 ND1 GJB6 RDH5 PEX26 SMARCA4 ABHD5 NDP IL17RD AHI1 AK2 EDN1 ZIC1 TP63 SAG NDUFB11 TRNK PEX2 P2RX2 HLA-DPA1 SLC25A4 PLN PLOD3 PRPS1 SOST RMND1 CFAP300 NLRP3 DMP1 MAF MSTO1 TANGO2 SPATA7 ARSG TRNL1 FANCD2 TRMU PEX14 FAM149B1 LRP5 GATA1 GDF6 SC5D FGFR3 COX2 GTF2I IMPDH1 DHX38 STRC MECOM KCNQ4 STXBP1 DNASE1L3 KCNE5 ESRP1 FGFR3 PEX6 COG5 NPM1 CEP78 COL9A1 BRAF IARS2 STAC3 CDC42 SLC29A3 SOX10 TCF12 COX15 AGTR2 PRPS1 CDCA7 DUX4 TTC12 MPZ PTPN22 TWNK EBP TRNW AFF4 SDCCAG8 USH1G ADAMTSL1 GATA2 TERC ORC1 PROK2 LONP1 ARNT2 PAX1 FIG4 DLG3 FANCC NDUFS4 ITGB3 DNAJC19 ERCC2 ROM1 AIFM1 TBL2 OTX2 IRF6 POLD1 RNF135 SDHB AHSG OPA3 TMEM216 PEX14 FLNB KYNU DNAAF3 PEX3 BMP4 DRC1 ND2 PTH1R BDP1 ARHGDIA FSCN2 TRNS1 ZIC1 TCIRG1 GATA3 SEMA3A AP1B1 FBN1 IMPG2 CCDC114 BTK HYMAI LOXHD1 TELO2 SMAD4 SNAI2 STAC3 USB1 CABP2 ZMPSTE24 KDM6A MYH6 SPATA5 VHL GUSB AP1S2 PUF60 COL2A1 PEX1

Protein Mutations 14

A313G A7445C A7445G C677T E384G G20210A G7444A G951A I105V L236P M34T T416P T961C T961G

SNP 2

rs12201199 rs9332377