HP:0000365: Hearing impairment

Genes 2232

MERTK SMARCB1 COL2A1 TRNK ALDH18A1 TIMM8A B3GLCT DNAAF1 MITF NDUFS4 TCOF1 TRNC MYO7A KAT6B BRAF EFTUD2 ARVCF ND1 WDR11 RREB1 TOPORS RRM2B TUBB4A LETM1 ITM2B MAFB PAX3 ELMO2 ANTXR1 PEX11B PEX6 SPATA5 EFTUD2 DNAH11 SLC44A4 RPS6KA3 GJB6 LRAT POLG CDC45 BUB1B DMD ERCC5 SNAI2 FLRT3 RDX FOXH1 PEX11B ESPN ANKRD11 TARS1 PEX1 RAF1 SPATA5 DNAH1 BRIP1 VPS13B PIK3R1 BRAF SEC24C FGFR3 CDK8 DSG2 MECOM RLBP1 SMCHD1 TULP1 ZIC1 TCAP TWNK PGAP2 PIGA FGFR3 PEX10 FANCG FOXC1 NDUFV2 GMPPA WAC GNS SRP72 ADAMTSL1 ENPP1 DLST FLNB DNMT3A SIN3A C8ORF37 P2RX2 MYH6 CNOT2 GJA1 GJB2 CLCNKA SLC25A24 TTC19 KCNE1 SPATA7 SLC10A7 TRRAP ATRX PLAGL1 CFAP300 ARL3 IFT27 BDP1 CBL PEX19 ASPM SMC3 ABCC1 PEX26 SQSTM1 PPP1R15B PEX12 SPOP AMMECR1 SDHA GRXCR1 ERCC8 SOX3 FANCL NDUFB11 CPLX1 ALOXE3 SNAI2 RAB23 PRPH2 PSAP PEX16 SLC25A10 COX10 TKT SEMA3D GJA1 GLI2 ODAD4 MAF PCDH15 FMR1 KIAA0753 SCO2 SOX2 ATP8 SLC26A2 COL11A2 CCBE1 TAF1 NLRP3 BTD FANCF COL11A1 WDPCP MPZL2 ND4 PEX1 SLC29A3 IMPDH1 FGFR3 DISP1 DHDDS GNAI3 KRAS HARS2 TBC1D24 SIX3 AP1S2 COL1A2 PEX7 RPE65 SOX10 TRNN SLC19A3 MORC2 GLI3 BTK USH1C GJB2 PEX13 RSPH1 CCBE1 NDUFB11 FOXC1 ZIC2 WDFY3 KYNU COL11A1 CDC42 GJA1 TRNK ERCC2 SNX10 FLNA CATSPER2 ACY1 FKBP14 REST FGF8 DMXL2 BRAF TCOF1 SC5D SHH CNTNAP1 DES CREBBP XPNPEP3 PNPT1 NEXN NODAL NOTCH2 SKI PORCN CEP57 GALNT2 CDH23 RAD21 ECHS1 IDUA USH2A DLL1 GJB6 RERE GJB2 TCTN3 PTPN22 TRNS2 FGFR3 EDNRB TIMMDC1 SOS1 ARSG TNNC1 TYMP MAP3K7 NARS2 MYO6 NPM1 DGUOK FRG1 NDUFS4 WAC TACO1 EYS IRF6 CNKSR2 GDNF EDC3 SLC18A3 PHYH MYSM1 DSE USP9X PEX1 DHODH TRNI CHSY1 RPGR NSUN2 TCF20 DNAL1 GALC RUNX2 DHX38 PSAP FGFR3 TMIE DSPP WFS1 TRNL1 CLPP VHL EBP EDN1 AIFM1 PRCD COL4A3 SYT2 BRAF PRPH2 TP63 TWIST2 GBA2 CHSY1 EYA4 FBN1 OPA1 SLC29A3 CNTNAP2 ACVR1 AIPL1 CTSA PGM3 FANCE SHANK3 DLX5 NDUFS6 TRNK PNP EDN3 XPA NEK1 BCAP31 COL2A1 ATRX ODAD2 HCCS GBA SUFU DNAI1 LOXL3 PLN PPP1R15B PSMD12 COLEC11 WFS1 TP63 FGFR2 MKKS SPIDR FANCC LMNA MED12 TWNK MKS1 ABCA4 GLI2 RFC1 NEU1 MGAT2 NRTN TASP1 KIZ RAB3GAP2 TNC COL1A2 MCTP2 FGFR1 ODAD3 TK2 SYP ATN1 PSMC3IP NDUFA9 PEX16 PEX10 SOX10 FOXI1 IQSEC2 GATB SDHB DDX11 LRRC32 HYMAI CISD2 PEX13 NDUFA1 STAC3 NEU1 PTPRQ CDH1 FOXH1 KCNJ10 NDUFA2 DNMT3B NOG PTPN11 EDN1 COX3 BEAN1 NDUFV2 USF3 GNPTAB FGFR2 FLNA OTX2 PLXND1 WAC NDUFAF3 NDUFAF2 IL17RD FANCB PCYT1A PEX2 PEX10 SIX5 PUS7 BAG3 LRP4 ERCC6 PIGB SMAD4 SURF1 CCDC141 AHI1 RPL10 SIX1 ABCC8 TPM2 ATP2B2 BSND GAS1 NDUFAF2 PSAP ERCC5 SLC33A1 CEACAM16 COLEC11 STAT3 C1QBP COQ6 SLC29A3 VCP KAT6B DNAAF2 POMK STRC KDM3B PI4KA RDH12 GJB2 TMEM126B ERAL1 GRAP PEX12 SBF2 ALOX12B GP1BB MDH2 MSL3 UBE2A FUS HNRNPK FREM2 TGIF1 IDS CATSPER2 NSDHL BPNT2 EYA1 MTHFD1 PROK2 ALX3 SETD2 SLITRK6 SMARCD1 SOX2 ND5 DMP1 TELO2 SLC52A3 PMP22 TDGF1 PDK3 CA4 POLG PEX5 FRG1 BCS1L WNT5A SIX3 GTF2E2 RGR SOX9 BMP2 COL9A1 CHD7 POLR1C ZNF462 PRRT2 TNFRSF11A GPC4 FH ATRX RPE65 RBM10 FGFR2 GDF6 GLB1 ORC1 BBS12 TCF12 SCN1A MYH3 PARN VHL RPGRIP1 PEX11B SDHD DVL3 NAXD DAB1 WFS1 NRL NHP2 GPRASP2 PRPS1 ZMYND10 DMXL2 KRAS LRP5 CACNA1D NTNG1 MYO7A GFER SDHB MITF BCS1L NODAL ROR2 TNFRSF11B GP1BA KDM6A SEMA3C EDN3 TRNS1 IRX5 PCNA BNC1 NXN UBR1 ND6 PEX6 CSPP1 TRNL1 NODAL LRRC56 BBIP1 DHCR7 GIPC3 TRAPPC4 ZNF711 NDE1 SLC7A14 RP1 HOXA11 PHF6 TACR3 ARID2 BBS1 SDHD ASXL1 CNGB1 RRM2B ZNF408 TRNS2 NOG DCAF17 TRNP PEX3 GJB2 FZD2 BTK GATA1 CTBP1 MCIDAS SNX14 ARX HUWE1 SOX4 SAG RAC1 TMC1 IL17RD ERCC6 ANKH FGFR2 LRP5 BCOR BBS10 HSPD1 PSAP FGF8 PEX13 GAS1 B3GLCT PTPRQ BMP4 CPLANE1 ELN FANCD2 FGFR2 MYT1L PIK3R1 GP1BB TCIRG1 FRAS1 ATP1A3 DLL1 GJB6 FUCA1 SPAG1 ARID1B EYA4 NLRP12 NDUFAF5 PRDM5 ORC4 COL11A1 ARSG SLX4 ABCA12 SOX10 SEC23B TRNS1 CDON TRPV3 SUMF1 GDI1 EYA1 TWIST2 PTCHD1 LOXHD1 COL2A1 STXBP2 CREBBP TBL1XR1 FAM20C SOX9 STK36 BBS4 GJB6 GJA1 BCS1L IFT88 TRNF NDUFB11 TWIST2 EDNRB PLA2G6 PHOX2B KMT2E MYBPC3 SLC5A7 RPGR GRIP1 CERT1 FANCD2 TMEM67 FAT4 TECTA SPTLC1 FLRT3 RMND1 PUS3 ZIC2 G6PC3 MFN2 GUCY2D NDUFB10 DNAJC21 PEX26 COL27A1 FGF3 TPRKB GFER DISP1 HYDIN MYH9 SPRY4 ERF PNPT1 FOXH1 FLNA KCNC3 SEMA3E PDZD7 PRTN3 ARID1A NAGA MED13 CEP78 TRNS1 FLNB WBP2 GMPPA ABCD1 ATP1A2 RRAS SALL4 TTC8 PDGFRB FANCI DDR2 ZNF81 ND2 ND5 RPS6KA3 ILDR1 PRDM5 FGFRL1 HOXA2 RNASET2 MASP1 UGT1A1 SALL4 WDR37 NEDD4L PEX3 CTNND1 TRNF TMEM126A CDC45 ACO2 GRHL2 TRNQ DNAJC21 COLEC10 ZMPSTE24 RAI1 VPS37A ADCY1 DNAI2 TRNS1 TBC1D24 PEX1 SPATA7 DNMT1 EPRS1 SMPX TRNE PRMT7 ERCC2 COL11A1 SLC26A5 ARHGEF18 SMARCA4 LMX1A SUMF1 GUSB DHCR7 SLC17A8 KITLG SDHB TRIM32 USH2A AMER1 KIF7 OTOGL NOP56 MYH3 KCNJ13 FGFR3 PTPN22 CEP57 TRNK FGFR2 AKT1 TRNF THOC2 SDCCAG8 ZNF469 WHRN CHST3 KANSL1 PITX2 PEX16 TBL1XR1 AFF4 BTK SDHB ZFP57 CARS2 ERCC1 PLAA PCNT OFD1 PRPF8 KLHL7 MRPS22 CDON CHCHD10 PTPN11 COG1 TTN PAX1 OTUD6B PDZD7 ABHD5 DVL3 CRX KDM6A ECHS1 TWNK CDHR1 TMEM132E PSMD12 KCNQ1 COG5 TBX15 DIAPH3 LONP1 SERPINB6 AGRN ERCC4 COL4A6 MARVELD2 TPRN GAS8 ACTB CLRN1 PEX16 NIPBL SMAD4 LIPT1 LAMB1 DLX4 NOTCH3 CD109 TRNL1 FGFR1 MARS2 PCDH15 LRP2 ARSA MANBA SRP54 MIR96 KCNJ10 SQSTM1 SPRY4 COL9A2 FGFR3 NDUFA10 MED12 FKBP14 ND2 UFM1 ADAT3 NOG APC2 TRAF7 KIF7 ADPRS NSMF LHX3 GJA1 CLCN7 TBX1 NSD1 KCNN3 REEP6 LMNB2 CREBBP NDUFS7 PDE6D TBX1 ERCC6 XYLT2 TRMU MECP2 PEX14 TULP1 CDC14A TBL1Y COL2A1 DLX5 NDUFS8 PRKAR1A REV3L TARDBP GCK EHMT1 TINF2 SDHD FLNB TRNF PNPLA2 NDUFAF5 FUCA1 RNASEH1 NDUFS1 PPP2R3C NSD2 PCDH15 KISS1 DNAAF5 PEX19 TRPS1 MPDZ ERCC4 NOG BBS1 EP300 MYH9 MPZ PERP COL1A2 GJB2 ADGRV1 FAM149B1 TMPO ND6 SYNE4 IMPG2 COL1A1 HESX1 NEFL DNAH5 MBTPS2 EDNRA IDS ZNF41 KISS1R MYH14 GRHL3 FGFR1 DDX3X TRNS1 NDRG1 KDSR RPGR STEEP1 HAAO TUB ECE1 RNF13 CTSA EPS15L1 SC5D AFF4 SUCLA2 TFAP2A PPCS COL2A1 COX2 DVL1 COQ2 OFD1 IGBP1 RAI1 PEX12 TFAP2B CHD7 FGF8 SIX1 PROKR2 SP7 WHRN NDP FGF10 AMMECR1 TSHZ1 TRMU SNAI2 TWIST1 TIMMDC1 EIF3F POGZ POMGNT1 TCTN3 PDE6G MANBA GDF5 DMXL2 TDGF1 SMARCE1 ALMS1 POU3F4 SIX6 GZF1 SEMA3A HACE1 GJB3 HOXB1 KIF5A ACOX1 SDHA CEACAM16 NRAS AIFM1 CNGA1 PEX26 DHODH PNPLA2 EHMT1 NF2 TCIRG1 DYRK1A NDUFS1 TOP3A TGIF1 GDF5 TRNK CCDC28B PCLO GTF2I TWNK ATP6V0A4 HGSNAT OAT EFNB1 GUCA1B MYO9A TMEM127 FTO KCNJ11 COL13A1 GNAS DLX6 TWNK ATP6V1B2 GMNN AMER1 SETD5 USH1C HK1 COX2 NFIX OFD1 ELAC2 PNPLA1 PEX2 RNF135 UPF3B ATP8B1 COL9A1 SKI RAD51 DUSP6 OTUD6B USH1C TRNT1 NDUFA9 HCFC1 ESPN XRCC2 FSCN2 VHL ERCC6 ODAD1 NME8 AHR COCH LETM1 TBX4 RFWD3 COL4A4 XPA MBTPS2 BTRC CEP290 GPC4 ERCC8 PHEX SCAPER PCDH15 RECQL4 PRKAR1A PROKR2 MLXIPL LZTR1 PRPF31 IQSEC2 ALG12 AK2 SLC52A2 NKX2-1 GUCY2D GTF2E2 SGSH PEX2 ABCC9 BAZ1B TRAPPC4 VPS11 MED12 SLC26A4 TANGO2 PEX1 ARHGEF6 COX3 COX7B NEBL BMP4 ERCC3 ACOX1 KCNAB2 FGF17 SOST ERCC5 EDNRB COL11A1 GALNS FGFR3 OSTM1 CHCHD10 PDZD7 DISP1 TRNL1 KMT2D FIBP TNFSF11 UBR1 PET100 LMNA PROK2 PEX3 FEZF1 SEM1 ACTB IARS1 ERCC6 TRNK SOST NDUFAF4 GTF2IRD1 SLC9A7 IARS2 CHD7 FRMPD4 MGP FGFR3 RASA2 APC SLC25A24 NAGA PUF60 ZIC1 FANCM RPL10 CTNNB1 RSPH9 NOTCH2 NELFA TBC1D24 NAA10 NLRP3 KCNJ11 PIK3C2A PAX2 ND1 ATP1A3 TGM1 USP9X POLG HLA-DPA1 AARS1 ARHGAP29 RIT1 ATP6 PROKR2 ARHGDIA NLRP3 CFAP221 L2HGDH GJB2 TP63 ROBO3 SDHA CDC6 TMPRSS3 AP1S1 TBK1 ESRRB EYA1 ACTL6B MORC2 OFD1 GJB3 PEX1 HARS1 SIX1 FIG4 SLC19A2 ERCC8 GMPPB HLA-DPB1 GLIS3 VPS11 KIT FOXH1 CLCN4 SURF1 SERAC1 AKT1 RNR1 RRAS2 KARS1 SIX5 TRMT10A NIPBL PITX2 SOST PTRH2 PDE1C COL11A2 COL11A1 GAS1 MYCN TXNRD2 MYH9 GMNN ACTB TRNW CTLA4 EPAS1 TUBB3 PDE4D ADAMTS3 SOX10 COL2A1 SPECC1L ERCC3 FGFR2 SPNS2 GPC4 CDON NPHP1 GJB2 FGFR1 SNRPB COL11A2 ERCC2 DISP1 FKTN USB1 NUP107 LSS NLRP3 HARS1 NDUFAF6 COL11A2 FLNA GALC ERCC1 COL11A2 SOX6 LIG4 NF1 FOXE3 TSR2 SRY SDHAF2 CNOT3 RLBP1 TCIRG1 GNRHR TDGF1 TMEM216 FTSJ1 RFT1 COX15 SDHD ROM1 SLC35A2 FGF8 CCDC40 GJB2 COX1 TINF2 LRP5 ARSA ERCC2 SDHC DCAF17 COL1A1 MITF EYA4 GJB4 ITGA2B KIF1B BEST1 TRNS2 SOST KMT2A ITGB3 RP2 ASCL1 SLC52A2 PAX1 BBS9 ARNT2 ATP6V1B1 HTRA2 LDB3 UBB FGF8 PAX3 OTOG TECTA CDH23 RPS28 STAG2 SALL4 CFAP300 COL2A1 GJB1 MAX LONP1 ZBTB20 CISD2 PEX26 GATA3 MARS2 KCNJ10 ERCC8 OSBPL2 SUCLA2 PTDSS1 MYO7A NDUFAF8 MSX1 ATP6V1B2 CCND1 FANCC PJVK CYTB MAF MYH14 FOXJ1 CYP7B1 CASK FANCI NDUFS2 DLG1 SDHC PEX6 CFAP298 SALL4 FARS2 ZIC2 KLHL7 TBX22 ALMS1 SBDS RET CERKL CPLANE1 PEX13 KDM6A DHDDS PEX14 CABP2 LEMD3 SIX1 BBS7 PQBP1 HNF4A COG5 DNASE1L3 TRRAP CHD7 CCDC141 FANCA MYO7A DIAPH1 DMP1 TTC12 KLLN IARS1 RDH5 FBXW11 MAN2B1 STRC PTCH1 STUB1 EPG5 TRNS1 GLI2 GAS2L2 PLCB4 ARID1B FOXI1 TP63 APC ADGRV1 ANKRD1 BCOR MITF SF3B4 COL1A1 POLG2 SOST PEX7 PLOD3 ALG11 SMARCA4 FDXR XPC PMPCB KCNQ4 COL4A5 SMCHD1 SLC26A4 PNPLA8 BCS1L TRIOBP NDP DCDC2 DKK1 MYCN IGBP1 LMNB1 IFT172 STRC VAMP1 TNFRSF11B IQCB1 ANKH RBM8A KCNJ10 NDUFB9 TWNK DGUOK ARL2BP FGFR3 ODC1 LRP5 PIEZO2 PIGL THRB PEX10 TP63 CLRN1 FGF3 DNAJB13 JMJD1C COL2A1 AGBL5 BUB1 PROM1 PLS1 PALB2 NRXN1 COQ7 PISD TBX1 LHX3 PIGT RRM2B STAMBP PEX12 DNAI1 HCCS COL11A1 IFT140 MPLKIP PRPS1 CDH11 MADD HSD17B4 LIMK1 OTOF ARSL MYT1L BMP4 SDHA DARS2 CLCN7 ERCC3 IDH3A EP300 SOX10 NDUFA6 CDC42 CCDC50 ROR1 COL9A3 TANGO2 GAA ACTC1 PPIP5K2 SNX14 POLG NDUFS2 MAP3K7 VAC14 ND3 MEOX1 CD151 BPTF SIN3A FAS SMARCB1 SOX10 BRCA2 DNMT1 ZMIZ1 NOG RNF113A BRAF HNRNPK MBTPS2 EDNRB RAF1 SLC39A8 TAF1 ATRX MYO15A POLG DCC CIB2 SMARCC2 ERCC2 DEAF1 COL9A2 ADGRG1 TXNL4A PSMD12 TK2 INTU ATP6AP1 PEX6 POGZ PEX1 IMPDH1 BPTF TYMP USH1C TSPEAR PIGV SUCLG1 IDUA BCOR POLG SQSTM1 POLR1B ARSA KYNU NEU1 TGIF1 ESRP1 MSRB3 SETBP1 DUSP6 FIBP MYH7 RRM2B PRRX1 PEX6 ZMIZ1 WFS1 PMP22 HDAC4 SLX4 CDT1 RECQL4 A2ML1 RPL10 RPS26 FHL2 GABRD SGMS2 EHMT1 NEK10 FIG4 DOCK3 TRNS2 SURF1 TFAP2A LARS2 TP63 FGFR2 GLI3 RET UFD1 GDF6 PDE4D HNF1B DHX16 UBE2T ERCC3 CHRNG SHANK3 TMC1 BBS5 CACNA1A SF3B4 PRPF3 ERCC6 FGFR3 MED13L RUNX2 PRPS1 KANSL1 PTCH1 NR2F1 DNAJC19 FBN1 TDGF1 ARL6 GCH1 DNMT1 PAX3 TRAPPC12 PEX5 HGF RAI1 NDUFS2 NR2E3 PCARE MAK SALL1 ZEB2 PIGO SMC1A MAP2K1 NDUFAF4 ERCC4 TWIST1 PAX3 HSD17B10 TWIST1 SMC3 YME1L1 PDX1 DUX4 PEX19 FLNA GBA2 DLL1 DOLK MASP1 SHH DPH1 MSTO1 PRPF4 TBCK MTRR HDAC8 SH3TC2 ITGB6 STAG2 LRAT WHRN EYA1 EFL1 TERC BUB3 CRX NSD1 KIAA1549 CD164 MFN2 TRIP13 DNAJC3 PRDM16 KMT2C DDX3X PRPF6 NARS2 AMMECR1 DNAAF6 BCR IFRD1 PIGS LRP12 BBS2 SNAP29 AHDC1 ABCC8 FANCA SNAP25 NR5A1 NOTCH3 DLL1 KCNE5 ARL6 MAN2B1 COMT SPRY4 EDNRB AAAS CEP250 KCNJ10 GAB1 CDK5RAP2 ERCC4 RPS6KA3 POU3F4 SALL1 KCNC3 ABCD1 IGF1 ATP6V1B2 LHX1 TGIF1 TRNH CLDN14 SLC39A14 DNAH1 CSRP3 GJB3 PIEZO1 FAT4 ALG13 LORICRIN ACTN2 PSEN1 AGTR2 HOMER2 EPG5 GJB1 ERCC6 PRPS1 DDB2 CASK ESPN SHH ARID1B PDE6A HACE1 SPECC1L TP63 PRKDC GJC2 PIK3C2A NOG IFT172 TTR LZTFL1 PEPD SNRPB RBP3 GAA CTNNB1 MRPS2 PNPT1 PTEN MYH3 MFN2 SLC26A2 RAD51C GALE RAB39B PRPS1 ABHD12 TTC8 GJB2 CLIP2 IFT140 ELMOD3 GRXCR2 HIRA ACTG1 EPS8L2 S1PR2 DRC1 SVBP NRAS HOXA1 KCNE1 COX1 SIX3 TELO2 TIMM8A ELN POLG LHFPL5 MYD88 GNRH1 CLCNKB ARSB PEX6 PAX3 RPL11 MOGS PORCN SNRNP200 SOX11 USP9X SHOC2 ND4 POLG COL2A1 CYP7B1 MITF SON EDN3 DVL3 CRYM COLEC10 HESX1 TRNL1 PAX2 ALX1 PTPN11 MEOX1 MCM2 ARL6 RP9 ABHD5 PEX2 FAT4 DACT1 RHO POLR1D GLA LRRC6 TRNW TNFRSF11A CDH23 SHH PDE6B CASK CHST14 TRNV TANC2 NUS1 FLNA COL2A1 TRNL1 DLX5 ZNF513 RNF13 CCNO GJB2 FGFR2 SLC25A4 IDUA MGP NDUFA11 NDUFS3 GSN TSPAN7 SLC35C1 CAP2 FAM161A EXOSC2 COL11A2 AHSG FRAS1 NDUFA12 ADK MYCN MYO3A TRNH TGFB1 PTPN11 FGF17 USP45 FGFR1 GATA2 IGF1 ORC6 IDH3B DNM1L ZNF469 SIN3A PRPS1 ND1 KMT2D SOS2 SLC19A2 LAMA4 NF2 FOXRED1 MICOS13 DCHS1 PAK3 GATA3 SLC25A4 MEGF8 DCHS1 CNOT1 ZEB2 ARID2 CHN1 COL2A1 EYA1 MECOM AP1B1 EXT1 KCNH1 MAP3K20 EYA1 MRAS MRPS28 CAT PLP1 CHRNG RAC1 FGFR3 MYO6 TRNQ FIG4 XRCC4 ND3 KIF7 MSTO1 PDHA1 C9ORF72 DNAH9 NECTIN1 BEAN1 USH2A GDF3 LARS1 MRAS NSD2 HS6ST1 DPF2 TNFRSF11A USH1G ITGA2 TWIST1 MAN2B1 FLNA PIK3CA DDX6 TAZ TNNT2 PTCH1 NLRP3 CHD4 SEMA4A ORC1 TRPV4 GSDME NDUFV1 HOXA11 GJC2 ERCC4 ST3GAL5 ODC1 FGFR1 RBM20 TWIST1 NDUFA13 BCORL1 NDUFA4 CDCA7 ACSL4 ND1 COG7 IDUA GATAD1 MID2 SLC4A11 STAG2 GSC ANOS1 PEX7 PDZD7 NDUFAF3 MYPN USH1G PTEN PYCR2 TNNI3 FGF9 SLC4A11 TP63 FGF8 PPP1CB TACR3 FGFR1 GLYCTK PEX14 MAP3K7 TRNP NIPAL4 MAPK1 NDUFS3 PHYH HNF1B ND5 GJB6 WDR11 IDS DNAAF3 RAI1 DNAAF3 FAM149B1 PCGF2 FLCN ALG11 BCAP31 SCN5A PEX7 FOXI1 PDK3 IL1RAPL1 NALCN PEX11B SLC39A8 NEK2 LMX1B PTRH2 CRYAB STAC3 SELENOI PIGL RD3 NDUFS8 NDUFB8 SPEF2 DIABLO OTOA NECTIN1 PBX1 ACY1 TBL2 BBS2 ZBTB20 TAC3 SDCCAG8 FANCE TGFB1 RIPOR2 RFC2 NOP56 MN1 GBA2 LRP5 TMEM38B SGPL1 RRM2B SALL4 PAX7 CCDC103 OFD1 SOST SURF1 SIX3 SOX10 BRCA1 COCH STAG2 CRKL POLR1D SRCAP GATC MET SGCD SIX1 OPA3 FGF3 POLR3H HS6ST1 ALX3 HAND2 KITLG YAP1 CERS3 MSX1 SEMA3E WFS1 CDON SRPX2 PRPS1 NMNAT1 OPA1 ABCB6 FXN NOP10 FOXRED1 RAF1 OPA1 MED12 TRNQ PRDM16 DNAJC3 RPS23 ACTL6A NDUFS7 TK2 ZIC2 NUBPL ERCC2 TAF1A MFN2 SOX2 IARS2 USP27X RTEL1 NDUFB3 GPSM2 GPC3 GJB2 CLIC5 LRP4 RERE TPM1 SMCHD1 MAD2L2 CEP290 TRNE PNPLA6 SKI AIFM1 ASPA PIK3CA POR PGM3 DCC EBP ANKRD11 TRNW SMC1A MTFMT RTTN EPS8 ACTG1 CHAT POLR1C CHST14 SDHC SEC31A RSPH3 COX7B SLC25A1 PTCH1 TBX22 KCNH1 GNAS MPZ B3GALT6 GLI2 RP1L1 GAS1 CRB1 NDUFA13 COQ8A ANOS1 WNT10B POU4F3 LCA5 SLC26A4 WRAP53 CIB2 PAX3 NDUFV1 HGSNAT KCNQ1 CREB3L1 BCOR LMX1B MYO7A FITM2 KISS1R FGFR3 GTF2H5 TRNV TERT FAT4 LRP2 OPA1 NSMF PSEN2 DNAAF4 DUSP6 MYH3 PTPN22 COL4A3 CARS2 CHD7 LRP4 POLD1 EXOSC8 VCL QRSL1 CREBBP SMCHD1 SNAP29 RECQL4 THOC6 NAGLU TRNL1 RET CTC1 TRMT1 PEX5 PRPS1 ACVR1 DMXL2 RERE GDF6 ND5 SDHD SYT2 NFIX CCDC39 NDNF HSD17B10 WHCR ACSL4 DLG3 LRTOMT NAA10 SARDH ND6 FGFR3 EP300 NDUFS4 ZIC1 BMP15 COL2A1 PTH1R DVL1 MAP3K7 GAS8 DKC1 TRAPPC11 CRB1 CEP78 NODAL GRM7 TCF12 ERCC4 RDH12 PYCR2 RSPH4A FSHR NDUFAF1 RFT1 CCDC65 HDAC8 PROKR2 USP7 NAGA SLC25A11 GNAS RHO ATP6V1B2 RET FLII ATP6 CDH1 TNFRSF11A IRF6 COA8 DMD C8ORF37 AP1S2 RLIM DPF2 NEU1 ASAH1 INS BTD

Protein Mutations 14

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

SNP 2

rs12201199 rs9332377