CodeMap®

81400	MXXXXXXXX XXXXXXXXX XXXXXXXXX, LXXXX 1 (XX, XXXXXXXXXXXXXX XX XXXXXX XXXXXXXX XXXXXXX [XX, SNP] XX XXXXXXXXXX XXXX XX XXXXXXXXXXX XXXXXX XXXXXXXXX XX XXXX XXXXX XXXXXXXX) ACADM (XXXX-CXA XXXXXXXXXXXXX, C-4 XX C-12 XXXXXXXX XXXXX, MCAD) (XX, XXXXXX XXXXX XXXX XXXXXXXXXXXXX XXXXXXXXXX), K304E XXXXXXX ACE (XXXXXXXXXXX XXXXXXXXXX XXXXXX) (XX, XXXXXXXXXX XXXXX XXXXXXXX XXXXXXXXXX), XXXXXXXXX/XXXXXXXX XXXXXXX AGTR1 (XXXXXXXXXXX II XXXXXXXX, XXXX 1) (XX, XXXXXXXXX XXXXXXXXXXXX), 1166A>C XXXXXXX BCKDHA (XXXXXXXX XXXXX XXXX XXXX XXXXXXXXXXXXX E1, XXXXX XXXXXXXXXXX) (XX, XXXXX XXXXX XXXXX XXXXXXX, XXXX 1A), Y438N XXXXXXX CCR5 (XXXXXXXXX C-C XXXXX XXXXXXXX 5) (XX, HIV XXXXXXXXXX), 32-XX XXXXXXXX XXXXXXXX/794 825XXX32 XXXXXXXX CLRN1 (XXXXXX 1) (XX, UXXXX XXXXXXXX, XXXX 3), N48K XXXXXXX F2 (XXXXXXXXXXX XXXXXX 2) (XX, XXXXXXXXXX XXXXXXXXXXXXXXXXXX), 1199G>A XXXXXXX F5 (XXXXXXXXXXX XXXXXX V) (XX, XXXXXXXXXX XXXXXXXXXXXXXXXXXX), HR2 XXXXXXX F7 (XXXXXXXXXXX XXXXXX VII [XXXXX XXXXXXXXXXX XXXXXXXXXX XXXXXXXXXXX]) (XX, XXXXXXXXXX XXXXXXXXXXXXXXXXXX), R353Q XXXXXXX F13B (XXXXXXXXXXX XXXXXX XIII, B XXXXXXXXXXX) (XX, XXXXXXXXXX XXXXXXXXXXXXXXXXXX), V34L XXXXXXX FGB (XXXXXXXXXX XXXX XXXXX) (XX, XXXXXXXXXX XXXXXXXX XXXXX XXXXXXX), -455G>A XXXXXXX FGFR1 (XXXXXXXXXX XXXXXX XXXXXX XXXXXXXX 1) (XX, PXXXXXXX XXXXXXXX XXXX 1, XXXXXXXXXXXXXXXX), P252R XXXXXXX FGFR3 (XXXXXXXXXX XXXXXX XXXXXX XXXXXXXX 3) (XX, MXXXXX XXXXXXXX), P250R XXXXXXX FKTN (XXXXXXX) (XX, FXXXXXXX XXXXXXXXXX XXXXXXXX XXXXXXXXX), XXXXXXXXXXXXXXX XXXXXXXXX XXXXXXX GNE (XXXXXXXXXXX [UDP-N-XXXXXX]-2-XXXXXXXXX/N-XXXXXXXXXXXXXXXXX XXXXXX) (XX, XXXXXXXXX XXXX XXXXXXXX 2 [IBM2], NXXXXX XXXXXXXX), M712T XXXXXXX IVD (XXXXXXXXXX-CXA XXXXXXXXXXXXX) (XX, XXXXXXXXXX XXXXXXXX), A282V XXXXXXX LCT (XXXXXXX-XXXXXXXXX XXXXXXXXX) (XX, XXXXXXX XXXXXXXXXXX), 13910 C>T XXXXXXX NEB (XXXXXXX) (XX, XXXXXXXX XXXXXXXX 2), XXXX 55 XXXXXXXX XXXXXXX PCDH15 (XXXXXXXXXXXXX-XXXXXXX 15) (XX, UXXXX XXXXXXXX XXXX 1F), R245X XXXXXXX SERPINE1 (XXXXXXX XXXXXXXXX XXXXXXXXX XXXXX E, XXXXXX 1, XXXXXXXXXXX XXXXXXXXX XXXXXXXXX -1, PAI-1) (XX, XXXXXXXXXXXXX), 4G XXXXXXX SHOC2 (XXX-2 XXXXXXXXXX XX XXXXX XXXXXXX) (XX, NXXXXX-XXXX XXXXXXXX XXXX XXXXX XXXXXX XXXX), S2G XXXXXXX SRY (XXX XXXXXXXXXXX XXXXXX Y) (XX, 46,XX XXXXXXXXXX XXXXXXXX XX XXX XXXXXXXXXXX, XXXXXXX XXXXXXXXXX), XXXX XXXXXXXX TOR1A (XXXXXX XXXXXX 1, XXXXXX A [XXXXXX A]) (XX, XXXXX-XXXXX XXXXXXX XXXXXXXX [DYT1]), 907_909XXXGAG (904_906XXXGAG) XXXXXXX
81401	MXXXXXXXX XXXXXXXXX XXXXXXXXX, LXXXX 2 (XX, 2-10 SNPX, 1 XXXXXXXXXX XXXXXXX, XX 1 XXXXXXX XXXXXXX [XXXXXXXXX XXXXX XXXXXXXXXXXXX XXXXXX XXXXXXX XXXXXXXX], XX XXXXXXXXX XX X XXXXXXX XXXXXXXX XXXXXXXX/XXXXXXX XXXXXX) ABCC8 (ATP-XXXXXXX XXXXXXXX, XXX-XXXXXX C [CFTR/MRP], XXXXXX 8) (XX, XXXXXXXX XXXXXXXXXXXXXXX), XXXXXX XXXXXXXX (XX, X.3898-9G>A [X.3992-9G>A], F1388XXX) ABL1 (ABL XXXXX-XXXXXXXX 1, XXX-XXXXXXXX XXXXXXXX XXXXXX) (XX, XXXXXXXX XXXXXXXX XXXXXXXXXX), T315I XXXXXXX ACADM (XXXX-CXA XXXXXXXXXXXXX, C-4 XX C-12 XXXXXXXX XXXXX, MCAD) (XX, XXXXXX XXXXX XXXX XXXXXXXXXXXXX XXXXXXXXXX), XXXXXXX XXXXXXXX (XX, K304E, Y42H) ADRB2 (XXXXXXXXXX XXXX-2 XXXXXXXX XXXXXXX) (XX, XXXX XXXXXXXXXX), XXXXXX XXXXXXXX (XX, G16R, Q27E) APOB (XXXXXXXXXXXXXX B) (XX, XXXXXXXX XXXXXXXXXXXXXXXXXXXX XXXX B), XXXXXX XXXXXXXX (XX, R3500Q, R3500W) APOE (XXXXXXXXXXXXXX E) (XX, XXXXXXXXXXXXXXXXXXXX XXXX III, XXXXXXXXXXXXXX XXXXXXX, AXXXXXXXX XXXXXXX), XXXXXX XXXXXXXX (XX, 2, 3, *4) CBFB/MYH11 (XXX(16)) (XX, XXXXX XXXXXXX XXXXXXXX), XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX CBS (XXXXXXXXXXXXX-XXXX-XXXXXXXX) (XX, XXXXXXXXXXXXXX, XXXXXXXXXXXXX XXXX-XXXXXXXX XXXXXXXXXX), XXXXXX XXXXXXXX (XX, I278T, G307S) CFH/ARMS2 (XXXXXXXXXX XXXXXX H/XXX-XXXXXXX XXXXXXXXXXX XXXXXXXXXXXXXX 2) (XX, XXXXXXX XXXXXXXXXXXX), XXXXXX XXXXXXXX (XX, Y402H [CFH], A69S [ARMS2]) DEK/NUP214 (X(6;9)) (XX, XXXXX XXXXXXX XXXXXXXX), XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX E2A/PBX1 (X(1;19)) (XX, XXXXX XXXXXXXXXXX XXXXXXXX), XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX EML4/ALK (XXX(2)) (XX, XXX-XXXXX XXXX XXXX XXXXXX), XXXXXXXXXXXXX XX XXXXXXXXX XXXXXXXX ETV6/RUNX1 (X(12;21)) (XX, XXXXX XXXXXXXXXXX XXXXXXXX), XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX EWSR1/ATF1 (X(12;22)) (XX, XXXXX XXXX XXXXXXX), XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX EWSR1/ERG (X(21;22)) (XX, EXXXX XXXXXXX/XXXXXXXXXX XXXXXXXXXXXXXXX XXXXX), XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX EWSR1/FLI1 (X(11;22)) (XX, EXXXX XXXXXXX/XXXXXXXXXX XXXXXXXXXXXXXXX XXXXX), XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX EWSR1/WT1 (X(11;22)) (XX, XXXXXXXXXXXX XXXXX XXXXX XXXX XXXXX), XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX F11 (XXXXXXXXXXX XXXXXX XI) (XX, XXXXXXXXXXX XXXXXXXX), XXXXXX XXXXXXXX (XX, E117X [TXXX II], F283L [TXXX III], IVS14XXX14, XXX IVS14+1G>A [TXXX I]) FGFR3 (XXXXXXXXXX XXXXXX XXXXXX XXXXXXXX 3) (XX, XXXXXXXXXXXXXX, XXXXXXXXXXXXXXXXX), XXXXXX XXXXXXXX (XX, 1138G>A, 1138G>C, 1620C>A, 1620C>G) FIP1L1/PDGFRA (XXX[4X12]) (XX, XXXXXXXX-XXXXXXXXX XXXXXXX XXXXXXXXXXXX XXXXXXXX), XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX FLG (XXXXXXXXX) (XX, XXXXXXXXXX XXXXXXXX), XXXXXX XXXXXXXX (XX, R501X, 2282XXX4, R2447X, S3247X, 3702XXXG) FOXO1/PAX3 (X(2;13)) (XX, XXXXXXXX XXXXXXXXXXXXXXXX), XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX FOXO1/PAX7 (X(1;13)) (XX, XXXXXXXX XXXXXXXXXXXXXXXX), XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX FUS/DDIT3 (X(12;16)) (XX, XXXXXX XXXXXXXXXXX), XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX GALC (XXXXXXXXXXXXXXXXXXXX) (XX, KXXXXX XXXXXXX), XXXXXX XXXXXXXX (XX, X.857G>A, 30-XX XXXXXXXX) GALT (XXXXXXXXX-1-XXXXXXXXX XXXXXXXXXXXXXXXXXXX) (XX, XXXXXXXXXXXX), XXXXXX XXXXXXXX (XX, Q188R, S135L, K285N, T138M, L195P, Y209C, IVS2-2A>G, P171S, XXX5XX, N314D, L218L/N314D) H19 (XXXXXXXXX XXXXXXXXXX XXXXXXXXX XXXXXXXXXX [XXX-XXXXXXX XXXXXX]) (XX, BXXXXXXX-WXXXXXXXX XXXXXXXX), XXXXXXXXXXX XXXXXXXX IGH@/BCL2 (X(14;18)) (XX, XXXXXXXXXX XXXXXXXX), XXXXXXXXXXXXX XXXXXXXX; XXXXXX XXXXXXXXXX (XX, XXXXX XXXXXXXXXX XXXXXX [MBR] XX XXXXX XXXXXXX XXXXXX [XXX]), XXXXXXXXXXX XX XXXXXXXXXXXX (WXXX XXXX MBR XXX XXX XXXXXXXXXXX XXX XXXXXXXXX, XXX 81278) KCNQ1OT1 (KCNQ1 XXXXXXXXXXX XXXXXXXXXX 1 [XXX-XXXXXXX XXXXXX]) (XX, BXXXXXXX-WXXXXXXXX XXXXXXXX), XXXXXXXXXXX XXXXXXXX LINC00518 (XXXX XXXXXXXXXX XXX-XXXXXXX XXXXXX RNA 518) (XX, XXXXXXXX), XXXXXXXXXX XXXXXXXX LRRK2 (XXXXXXX-XXXX XXXXXX XXXXXX 2) (XX, PXXXXXXXX XXXXXXX), XXXXXX XXXXXXXX (XX, R1441G, G2019S, I2020T) MED12 (XXXXXXXX XXXXXXX XXXXXXX 12) (XX, FG XXXXXXXX XXXX 1, LXXXX XXXXXXXX), XXXXXX XXXXXXXX (XX, R961W, N1007S) MEG3/DLK1 (XXXXXXXXXX XXXXXXXXX 3 [XXX-XXXXXXX XXXXXX]/XXXXX-XXXX 1 XXXXXXX [DXXXXXXXXX]) (XX, XXXXXXXXXXXX XXXXXX XXXXXXXXXXX), XXXXXXXXXXX XXXXXXXX MLL/AFF1 (X(4;11)) (XX, XXXXX XXXXXXXXXXXXX XXXXXXXX), XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX MLL/MLLT3 (X(9;11)) (XX, XXXXX XXXXXXX XXXXXXXX), XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX MT-ATP6 (XXXXXXXXXXXXXXX XXXXXXX ATP XXXXXXXX 6) (XX, XXXXXXXXXX XXXX XXXXXX XXX XXXXXXXXX XXXXXXXXXX [NARP], LXXXX XXXXXXXX), XXXXXX XXXXXXXX (XX, X.8993T>G, X.8993T>C) MT-ND4, MT-ND6 (XXXXXXXXXXXXXXX XXXXXXX NADH XXXXXXXXXXXXX 4, XXXXXXXXXXXXXXX XXXXXXX NADH XXXXXXXXXXXXX 6) (XX, LXXXX XXXXXXXXXX XXXXX XXXXXXXXXX [LHON]), XXXXXX XXXXXXXX (XX, X.11778G>A, X.3460G>A, X.14484T>C) MT-ND5 (XXXXXXXXXXXXXXX XXXXXXX XRNA XXXXXXX 1 [UUA/G], XXXXXXXXXXXXXXX XXXXXXX NADH XXXXXXXXXXXXX 5) (XX, XXXXXXXXXXXXX XXXXXXXXXXXXXX XXXX XXXXXX XXXXXXXX XXX XXXXXX-XXXX XXXXXXXX [MELAS]), XXXXXX XXXXXXXX (XX, X.3243A>G, X.3271T>C, X.3252A>G, X.13513G>A) MT-RNR1 (XXXXXXXXXXXXXXX XXXXXXX 12S RNA) (XX, XXXXXXXXXXXX XXXXXXX XXXX), XXXXXX XXXXXXXX (XX, X.1555A>G, X.1494C>T) MT-TK (XXXXXXXXXXXXXXX XXXXXXX XRNA XXXXXX) (XX, XXXXXXXXX XXXXXXXX XXXX XXXXXX-XXX XXXXXX [MERRF]), XXXXXX XXXXXXXX (XX, X.8344A>G, X.8356T>C) MT-TL1 (XXXXXXXXXXXXXXX XXXXXXX XRNA XXXXXXX 1 [UUA/G]) (XX, XXXXXXXX XXX XXXXXXX XXXX), XXXXXX XXXXXXXX (XX, X.3243A>G, X.14709 T>C) MT-TL1 MT-TS1, MT-RNR1 (XXXXXXXXXXXXXXX XXXXXXX XRNA XXXXXX 1 [UCN], XXXXXXXXXXXXXXX XXXXXXX 12S RNA) (XX, XXXXXXXXXXXX XXXXXXXXXXXXX XXXXXXXX [XXXXXXXXX XXXXXXXXXXXXXX-XXXXXXX XXXXXXXXXXXX XXXXXXXX]), XXXXXX XXXXXXXX (XX, X.7445A>G, X.1555A>G) MUTYH (XXXY XXXXXXX [E. XXXX]) (XX, MYH-XXXXXXXXXX XXXXXXXXX), XXXXXX XXXXXXXX (XX, Y165C, G382D) NOD2 (XXXXXXXXXX-XXXXXXX XXXXXXXXXXXXXXX XXXXXX XXXXXXXXXX 2) (XX, CXXXX'X XXXXXXX, BXXX XXXXXXXX), XXXXXX XXXXXXXX (XX, SNP 8, SNP 12, SNP 13) NPM1/ALK (X(2;5)) (XX, XXXXXXXXXX XXXXX XXXX XXXXXXXX), XXXXXXXXXXXXX XXXXXXXX PAX8/PPARG (X(2;3) (X13;X25)) (XX, XXXXXXXXXX XXXXXXX XXXXXXXXX), XXXXXXXXXXXXX XXXXXXXX PRAME (XXXXXXXXXXXXXX XXXXXXXXX XXXXXXX XX XXXXXXXX) (XX, XXXXXXXX), XXXXXXXXXX XXXXXXXX PRSS1 (XXXXXXXX, XXXXXX, 1 [XXXXXXX 1]) (XX, XXXXXXXXXX XXXXXXXXXXXX), XXXXXX XXXXXXXX (XX, N29I, A16V, R122H) PYGM (XXXXXXXXXXXXX, XXXXXXXX, XXXXXX) (XX, XXXXXXXX XXXXXXX XXXXXXX XXXX V, MXAXXXX XXXXXXX), XXXXXX XXXXXXXX (XX, R50X, G205S) RUNX1/RUNX1T1 (X(8;21)) (XX, XXXXX XXXXXXX XXXXXXXX) XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX SS18/SSX1 (X(X;18)) (XX, XXXXXXXX XXXXXXX), XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX SS18/SSX2 (X(X;18)) (XX, XXXXXXXX XXXXXXX), XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX VWF (XXX WXXXXXXXXX XXXXXX) (XX, XXX WXXXXXXXXX XXXXXXX XXXX 2N), XXXXXX XXXXXXXX (XX, T791M, R816W, R854Q)
81402	MXXXXXXXX XXXXXXXXX XXXXXXXXX, LXXXX 3 (XX, >10 SNPX, 2-10 XXXXXXXXXX XXXXXXXX, XX 2-10 XXXXXXX XXXXXXXX [XXXXXXXXX XXXXX XXX-XXXXXXXXXX XXXXXX XXXXXXX XXXXXXXX], XXXXXXXXXXXXXX XXX T-XXXX XXXXXXXX XXXX XXXXXXXXXXXXXX, XXXXXXXXXXX/XXXXXXXX XXXXXXXX XX 1 XXXX, XXXX XX XXXXXXXXXXXXXX [LOH], XXXXXXXXXXX XXXXXX [UPD]) CXXXXXXXXX 1X-/19X- (XX, XXXXX XXXXXX), XXXXXXXX XXXXXXXX CXXXXXXXXX 18X- (XX, D18S55, D18S58, D18S61, D18S64, XXX D18S69) (XX, XXXXX XXXXXX), XXXXXXX XXXXXXXXX XXXXXXXXXX (XX, XXXX XX XXXXXXXXXXXXXX) COL1A1/PDGFB (X(17;22)) (XX, XXXXXXXXXXXXXXXXXXX XXXXXXXXXXX), XXXXXXXXXXXXX XXXXXXXX, XXXXXXXX XXXXXXXXXXX, XXXXXXXXXXX, XXX XXXXXXXXXXXX, XX XXXXXXXXX CYP21A2 (XXXXXXXXXX P450, XXXXXX 21, XXXXXXXXX A, XXXXXXXXXXX 2) (XX, XXXXXXXXXX XXXXXXX XXXXXXXXXXX, 21-XXXXXXXXXXX XXXXXXXXXX), XXXXXX XXXXXXXX (XX, IVS2-13G, P30L, I172N, XXXX 6 XXXXXXXX XXXXXXX [I235N, V236E, M238K], V281L, L307FXXX6, Q318X, R356W, P453S, G110VXXX21, 30-XX XXXXXXXX XXXXXXX) ESR1/PGR (XXXXXXXX 1/XXXXXXXXXXXX XXXXXXXX) XXXXX (XX, XXXXXX XXXXXX) MEFV (MXXXXXXXXXXXX XXXXX) (XX, XXXXXXXX MXXXXXXXXXXXX XXXXX), XXXXXX XXXXXXXX (XX, E148Q, P369S, F479L, M680I, I692XXX, M694V, M694I, K695R, V726A, A744S, R761H) TRD@ (T XXXX XXXXXXX XXXXXXXX, XXXXX) (XX, XXXXXXXX XXX XXXXXXXX), XXXX XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXX XX XXXXXX XXXXXXXX XXXXXX XXXXXXXXXX UXXXXXXXXXX XXXXXX (UPD) (XX, RXXXXXX-SXXXXX XXXXXXXX, PXXXXX-WXXXX/AXXXXXXX XXXXXXXX), XXXXX XXXXXX XXXXXX (STR) XXXXXXXX
81403	MXXXXXXXX XXXXXXXXX XXXXXXXXX, LXXXX 4 (XX, XXXXXXXX XX XXXXXX XXXX XX DNA XXXXXXXX XXXXXXXX, XXXXXXXX XX >10 XXXXXXXXX XXXXX XXXXXXXXX PCR XX 2 XX XXXX XXXXXXXXXXX XXXXXXXXX, XXXXXXXX XXXXXXXX XX XXXXXXXXXXX/XXXXXXXX XXXXXXXX XX 2-5 XXXXX) ANG (XXXXXXXXXX, XXXXXXXXXXXX, RNXXX A XXXXXX, 5) (XX, XXXXXXXXXXX XXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX ARX (XXXXXXXXXX XXXXXXX XXXXXXXX) (XX, X-XXXXXX XXXXXXXXXXXXX XXXX XXXXXXXXX XXXXXXXXX, X-XXXXXX XXXXXXXXXXXX XXXXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX CEL (XXXXXXXX XXXXX XXXXXX [XXXX XXXX-XXXXXXXXXX XXXXXX]) (XX, XXXXXXXX-XXXXX XXXXXXXX XX XXX XXXXX [MODY]), XXXXXXXX XXXXXXXX XXXXXXXX XX XXXX 11 (XX, X.1785XXXC, X.1686XXXT) CTNNB1 (XXXXXXX [XXXXXXXX-XXXXXXXXXX XXXXXXX], XXXX 1, 88XDX) (XX, XXXXXXX XXXXXX), XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXX 3) DAZ/SRY (XXXXXXX XX XXXXXXXXXXX XXX XXX XXXXXXXXXXX XXXXXX Y) (XX, XXXX XXXXXXXXXXX), XXXXXX XXXXXXXXX (XX, AZFX, AZFX, AZFX, AZFX) DNMT3A (DNA [XXXXXXXX-5-]-XXXXXXXXXXXXXXXXX 3 XXXXX) (XX, XXXXX XXXXXXX XXXXXXXX), XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXX 23) EPCAM (XXXXXXXXXX XXXX XXXXXXXX XXXXXXXX) (XX, LXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX F8 (XXXXXXXXXXX XXXXXX VIII) (XX, XXXXXXXXXX A), XXXXXXXXX XXXXXXXX, XXXXXX 1 XXX XXXXXX 22A F12 (XXXXXXXXXXX XXXXXX XII [HXXXXXX XXXXXX]) (XX, XXXXXXXXXX, XXXXXXXXXX, XXXX III; XXXXXX XII XXXXXXXXXX), XXXXXXXX XXXXXXXX XXXXXXXX XX XXXX 9 FGFR3 (XXXXXXXXXX XXXXXX XXXXXX XXXXXXXX 3) (XX, XXXXXXXX XXXXXXXXXXXXXXXX), XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXX 7) (FXX XXXXXXXX XXXXXXXX XXXXXXXX XX XXXXXXXX FGFR3 XXXXX, XXX 81404) GJB1 (XXX XXXXXXXX XXXXXXX, XXXX 1) (XX, CXXXXXX-MXXXX-TXXXX X-XXXXXX), XXXX XXXX XXXXXXXX GNAQ (XXXXXXX XXXXXXXXXX-XXXXXXX XXXXXXX G[X] XXXXXXX XXXXX) (XX, XXXXX XXXXXXXX), XXXXXX XXXXXXXX (XX, R183, Q209) HXXXX XXXXXXXXXXX XXXXXXX XXXX XXXXXXXX (XX, SLC14A1 [KXXX XXXXX XXXXX], BCAM [LXXXXXXX XXXXX XXXXX], ICAM4 [LXXXXXXXXXX-WXXXXX XXXXX XXXXX], SLC4A1 [DXXXX XXXXX XXXXX], AQP1 [CXXXXX XXXXX XXXXX], ERMAP [SXXXXXX XXXXX XXXXX], RHCE [RX XXXXX XXXXX, CXEX XXXXXXXX], KEL [KXXX XXXXX XXXXX], DARC [DXXXX XXXXX XXXXX], GYPA, GYPB, GYPE [MNS XXXXX XXXXX], ART4 [DXXXXXXX XXXXX XXXXX]) (XX, XXXXXX-XXXX XXXXXXX, XXXXXXXXXXX, XXXXXXXXX XXXXXXXXXXX XXXXXXXXX, XXXXXXXXX XXXXXXX XX XXX XXXXX XX XXXXXXX), XXXXXX XXXXXXXX HRAS (X-HX-XXX HXXXXX XXX XXXXXXX XXXXX XXXXXXXX XXXXXXX) (XX, CXXXXXXX XXXXXXXX), XXXX 2 XXXXXXXX KCNC3 (XXXXXXXXX XXXXXXX-XXXXX XXXXXXX, SXXX-XXXXXXX XXXXXXXXX, XXXXXX 3) (XX, XXXXXXXXXXXXXXX XXXXXX), XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXX 2) KCNJ2 (XXXXXXXXX XXXXXXXX-XXXXXXXXXX XXXXXXX, XXXXXXXXX J, XXXXXX 2) (XX, AXXXXXXX-TXXXX XXXXXXXX), XXXX XXXX XXXXXXXX KCNJ11 (XXXXXXXXX XXXXXXXX-XXXXXXXXXX XXXXXXX, XXXXXXXXX J, XXXXXX 11) (XX, XXXXXXXX XXXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX KXXXXX XXXX XXXXXXXXXXXXXX-XXXX XXXXXXXX (KIR) XXXX XXXXXX (XX, XXXXXXXXXXXXX XXXX XXXX XXXXXXXXXXXXXXX), XXXXXXXXXX XX KIR XXXXXX XXXXX KXXXX XXXXXXXX XXXXXXX XXX XXXXXXXXX XXXXXXXXX, XXX XXXX XXXXXX XX TXXX 1 XX TXXX 2, XX XXXXXXXXXX XXXXXX X XXXXXXX XXXXXXXXXX XXXXXXXXX, DNA XXXXXXXX XXXXXXXX, XXXX XXXXXXX XXXX (FXX X XXXXX XXXXXXXX XXXXXXX XXXX XX XXXXXXXXXX X XXXXXX XXXXXXX, XXX XXXXXXXX XXXXXX XXXXXXX TXXX 1 XX TXXX 2 XXXX) MC4R (XXXXXXXXXXXX 4 XXXXXXXX) (XX, XXXXXXX), XXXX XXXX XXXXXXXX MICA (MHC XXXXX I XXXXXXXXXXX-XXXXXXX XXXXXXXX A) (XX, XXXXX XXXXX XXXXXXXXXXXXXXX), XXXXXX XXXXXXXX (XX, 001, 002) MT-RNR1 (XXXXXXXXXXXXXXX XXXXXXX 12S RNA) (XX, XXXXXXXXXXXX XXXXXXX XXXX), XXXX XXXX XXXXXXXX MT-TS1 (XXXXXXXXXXXXXXX XXXXXXX XRNA XXXXXX 1) (XX, XXXXXXXXXXXX XXXXXXX XXXX), XXXX XXXX XXXXXXXX NDP (NXXXXX XXXXXXX [XXXXXXXXXXXX]) (XX, NXXXXX XXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX NHLRC1 (NHL XXXXXX XXXXXXXXXX 1) (XX, XXXXXXXXXXX XXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX PHOX2B (XXXXXX-XXXX XXXXXXXX 2X) (XX, XXXXXXXXXX XXXXXXX XXXXXXXXXXXXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX PLN (XXXXXXXXXXXXX) (XX, XXXXXXX XXXXXXXXXXXXXX, XXXXXXXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX RHD (RX XXXXX XXXXX, D XXXXXXX) (XX, XXXXXXXXX XXXXXXX XX XXX XXXXX XXX XXXXXXX, RX XXXXXXXX/XXXXX XXXXXXXXXXXXX), XXXXXXXX XXXXXXXX (XX, XXXXX 4, 5, XXX 7, XXXXXXXXXX) RHD (RX XXXXX XXXXX, D XXXXXXX) (XX, XXXXXXXXX XXXXXXX XX XXX XXXXX XXX XXXXXXX, RX XXXXXXXX/XXXXX XXXXXXXXXXXXX), XXXXXXXX XXXXXXXX (XX, XXXXX 4, 5, XXX 7, XXXXXXXXXX), XXXXXXXXX XX XXXX-XXXX XXXXX DNA XX XXXXXXXX XXXXX (FXX XXXXX XXXXXXXXXXX XXXX XXXXXXXX XX RHD, XXX X XXXXXXXX XXXX XX 81403) SH2D1A (SH2 XXXXXX XXXXXXXXXX 1A) (XX, X-XXXXXX XXXXXXXXXXXXXXXXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX TWIST1 (XXXXX XXXXXXX 1 [DXXXXXXXXX]) (XX, SXXXXXX-CXXXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX UBA1 (XXXXXXXXX-XXXX XXXXXXXX XXXXXXXXXX XXXXXX 1) (XX, XXXXXX XXXXXXXX XXXXXXX, X-XXXXXX), XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXX 15) VHL (XXX HXXXXX-LXXXXX XXXXX XXXXXXXXXX) (XX, XXX HXXXXX-LXXXXX XXXXXXXX XXXXXX XXXXXXXX), XXXXXXXX/XXXXXXXXXXX XXXXXXXX VWF (XXX WXXXXXXXXX XXXXXX) (XX, XXX WXXXXXXXXX XXXXXXX XXXXX 2A, 2B, 2M), XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXX 28)
81404	MXXXXXXXX XXXXXXXXX XXXXXXXXX, LXXXX 5 (XX, XXXXXXXX XX 2-5 XXXXX XX DNA XXXXXXXX XXXXXXXX, XXXXXXXX XXXXXXXX XX XXXXXXXXXXX/XXXXXXXX XXXXXXXX XX 6-10 XXXXX, XX XXXXXXXXXXXXXXXX XX X XXXXXXX XXXXXXXX XXXXXXXX/XXXXXXX XXXXXX XX SXXXXXXX XXXX XXXXXXXX) ACADS (XXXX-CXA XXXXXXXXXXXXX, C-2 XX C-3 XXXXX XXXXX) (XX, XXXXX XXXXX XXXX-CXA XXXXXXXXXXXXX XXXXXXXXXX), XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXXX 5 XXX 6) AQP2 (XXXXXXXXX 2 [XXXXXXXXXX XXXX]) (XX, XXXXXXXXXXX XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX ARX (XXXXXXXXXX XXXXXXX XXXXXXXX) (XX, X-XXXXXX XXXXXXXXXXXXX XXXX XXXXXXXXX XXXXXXXXX, X-XXXXXX XXXXXXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX AVPR2 (XXXXXXXX XXXXXXXXXXX XXXXXXXX 2) (XX, XXXXXXXXXXX XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX BBS10 (BXXXXX-BXXXX XXXXXXXX 10) (XX, BXXXXX-BXXXX XXXXXXXX), XXXX XXXX XXXXXXXX BTD (XXXXXXXXXXX) (XX, XXXXXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX C10XXX2 (XXXXXXXXXX 10 XXXX XXXXXXX XXXXX 2) (XX, XXXXXXXXXXXXX DNA XXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX CAV3 (XXXXXXXX 3) (XX, CAV3-XXXXXXX XXXXXX XXXXXXXX, XXXX-XXXXXX XXXXXXXX XXXXXXXXX XXXX 1C), XXXX XXXX XXXXXXXX CD40LG (CD40 XXXXXX) (XX, X-XXXXXX XXXXX IXM XXXXXXXX), XXXX XXXX XXXXXXXX CDKN2A (XXXXXX-XXXXXXXXX XXXXXX XXXXXXXXX 2A) (XX, CDKN2A-XXXXXXX XXXXXXXXX XXXXXXXXX XXXXXXXX, XXXXXXXX XXXXXXXX XXXX-XXXXXXXXX XXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX CLRN1 (XXXXXX 1) (XX, UXXXX XXXXXXXX, XXXX 3), XXXX XXXX XXXXXXXX COX6B1 (XXXXXXXXXX X XXXXXXX XXXXXXX VIX XXXXXXXXXXX 1) (XX, XXXXXXXXXXXXX XXXXXXXXXXX XXXXX XXXXXXX IV XXXXXXXXXX), XXXX XXXX XXXXXXXX CPT2 (XXXXXXXXX XXXXXXXXXXXXXXXXXXXX 2) (XX, XXXXXXXXX XXXXXXXXXXXXXXXXXXXX II XXXXXXXXXX), XXXX XXXX XXXXXXXX CRX (XXXX-XXX XXXXXXXX) (XX, XXXX-XXX XXXXXXXXX 2, LXXXX XXXXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX CYP1B1 (XXXXXXXXXX P450, XXXXXX 1, XXXXXXXXX B, XXXXXXXXXXX 1) (XX, XXXXXXX XXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX EGR2 (XXXXX XXXXXX XXXXXXXX 2) (XX, CXXXXXX-MXXXX-TXXXX), XXXX XXXX XXXXXXXX EMD (XXXXXX) (XX, EXXXX-DXXXXXXX XXXXXXXX XXXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX EPM2A (XXXXXXXX, XXXXXXXXXXX XXXXXXXXX XXXX 2A, LXXXXX XXXXXXX [XXXXXXX]) (XX, XXXXXXXXXXX XXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX FGF23 (XXXXXXXXXX XXXXXX XXXXXX 23) (XX, XXXXXXXXXXXXXXXX XXXXXXX), XXXX XXXX XXXXXXXX FGFR2 (XXXXXXXXXX XXXXXX XXXXXX XXXXXXXX 2) (XX, XXXXXXXXXXXXXXXX, AXXXX XXXXXXXX, CXXXXXX XXXXXXXX), XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXXX 8, 10) FGFR3 (XXXXXXXXXX XXXXXX XXXXXX XXXXXXXX 3) (XX, XXXXXXXXXXXXXX, XXXXXXXXXXXXXXXXX), XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXXX 8, 11, 12, 13) FHL1 (XXXX XXX X XXXX LIM XXXXXXX 1) (XX, EXXXX-DXXXXXXX XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX FKRP (XXXXXXX XXXXXXX XXXXXXX) (XX, XXXXXXXXXX XXXXXXXX XXXXXXXXX XXXX 1C [MDC1C], XXXX-XXXXXX XXXXXXXX XXXXXXXXX [LGMD] XXXX 2I), XXXX XXXX XXXXXXXX FOXG1 (XXXXXXXX XXX G1) (XX, RXXX XXXXXXXX), XXXX XXXX XXXXXXXX FSHMD1A (XXXXXXXXXXXXXXXXXXX XXXXXXXX XXXXXXXXX 1A) (XX, XXXXXXXXXXXXXXXXXXX XXXXXXXX XXXXXXXXX), XXXXXXXXXX XX XXXXXX XXXXXXXX (XX, XXXXXXX) XXXXXXX FSHMD1A (XXXXXXXXXXXXXXXXXXX XXXXXXXX XXXXXXXXX 1A) (XX, XXXXXXXXXXXXXXXXXXX XXXXXXXX XXXXXXXXX), XXXXXXXXXXXXXXXX XX XXXXXXXXX(X) (XX, XXXXXXXXXX 4A XXX 4B XXXXXXXXXX) GH1 (XXXXXX XXXXXXX 1) (XX, XXXXXX XXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX GP1BB (XXXXXXXXXXXX IX [XXXXXXXX], XXXX XXXXXXXXXXX) (XX, BXXXXXX-SXXXXXX XXXXXXXX XXXX B), XXXX XXXX XXXXXXXX (FXX XXXXXX XXXXXXXX XXXXXXXX XX XXXXX XXXXXX 1 XXX XXXXX XXXXXX 2 XXXXX, XXX 81257) HNF1B (HNF1 XXXXXXXX B) (XX, XXXXXXXX-XXXXX XXXXXXXX XX XXX XXXXX [MODY]), XXXXXXXXXXX/XXXXXXXX XXXXXXXX HRAS (X-HX-XXX HXXXXX XXX XXXXXXX XXXXX XXXXXXXX XXXXXXX) (XX, CXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX HSD3B2 (XXXXXXX-XXXXX-5-XXXXXXX XXXXXXXXXXXXX, 3 XXXX- XXX XXXXXXX XXXXX-XXXXXXXXX 2) (XX, 3-XXXX-XXXXXXXXXXXXXX XXXXXXXXXXXXX XXXX II XXXXXXXXXX), XXXX XXXX XXXXXXXX HSD11B2 (XXXXXXXXXXXXXX [11-XXXX] XXXXXXXXXXXXX 2) (XX, XXXXXXXXXXXXXXXXX XXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX HSPB1 (XXXX XXXXX 27XDX XXXXXXX 1) (XX, CXXXXXX-MXXXX-TXXXX XXXXXXX), XXXX XXXX XXXXXXXX INS (XXXXXXX) (XX, XXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX KCNJ1 (XXXXXXXXX XXXXXXXX-XXXXXXXXXX XXXXXXX, XXXXXXXXX J, XXXXXX 1) (XX, BXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX KCNJ10 (XXXXXXXXX XXXXXXXX-XXXXXXXXXX XXXXXXX, XXXXXXXXX J, XXXXXX 10) (XX, SXSAME XXXXXXXX, EAST XXXXXXXX, XXXXXXXXXXXXX XXXXXXX XXXX), XXXX XXXX XXXXXXXX LITAF (XXXXXXXXXXXXXXXXXX-XXXXXXX TNF XXXXXX) (XX, CXXXXXX-MXXXX-TXXXX), XXXX XXXX XXXXXXXX MEFV (MXXXXXXXXXXXX XXXXX) (XX, XXXXXXXX MXXXXXXXXXXXX XXXXX), XXXX XXXX XXXXXXXX MEN1 (XXXXXXXX XXXXXXXXX XXXXXXXXX I) (XX, XXXXXXXX XXXXXXXXX XXXXXXXXX XXXX 1, WXXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX MMACHC (XXXXXXXXXXXXX XXXXXXXX [XXXXXXXXX XXXXXXXXXX] XXXC XXXX, XXXX XXXXXXXXXXXXXX) (XX, XXXXXXXXXXXXX XXXXXXXX XXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX MPV17 (MXV17 XXXXXXXXXXXXX XXXXX XXXXXXXX XXXXXXX) (XX, XXXXXXXXXXXXX DNA XXXXXXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX NDP (NXXXXX XXXXXXX [XXXXXXXXXXXX]) (XX, NXXXXX XXXXXXX), XXXX XXXX XXXXXXXX NDUFA1 (NADH XXXXXXXXXXXXX [XXXXXXXXXX] 1 XXXXX XXXXXXXXXX, 1, 7.5XDX) (XX, LXXXX XXXXXXXX, XXXXXXXXXXXXX XXXXXXX I XXXXXXXXXX), XXXX XXXX XXXXXXXX NDUFAF2 (NADH XXXXXXXXXXXXX [XXXXXXXXXX] 1 XXXXX XXXXXXXXXX, XXXXXXXX XXXXXX 2) (XX, LXXXX XXXXXXXX, XXXXXXXXXXXXX XXXXXXX I XXXXXXXXXX), XXXX XXXX XXXXXXXX NDUFS4 (NADH XXXXXXXXXXXXX [XXXXXXXXXX] FX-S XXXXXXX 4, 18XDX [NADH-XXXXXXXX Q XXXXXXXXX]) (XX, LXXXX XXXXXXXX, XXXXXXXXXXXXX XXXXXXX I XXXXXXXXXX), XXXX XXXX XXXXXXXX NIPA1 (XXX-XXXXXXXXX XX PXXXXX-WXXXX/AXXXXXXX XXXXXXXX 1) (XX, XXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX NLGN4X (XXXXXXXXXX 4, X-XXXXXX) (XX, XXXXXX XXXXXXXX XXXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX NPC2 (NXXXXXX-PXXX XXXXXXX, XXXX C2 [XXXXXXXXXX XXXXXXXXX XXXXXXX E1]) (XX, NXXXXXX-PXXX XXXXXXX XXXX C2), XXXX XXXX XXXXXXXX NR0B1 (XXXXXXX XXXXXXXX XXXXXXXXX 0, XXXXX B, XXXXXX 1) (XX, XXXXXXXXXX XXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX PDX1 (XXXXXXXXXX XXX XXXXXXXX XXXXXXXX 1) (XX, XXXXXXXX-XXXXX XXXXXXXX XX XXX XXXXX [MODY]), XXXX XXXX XXXXXXXX PHOX2B (XXXXXX-XXXX XXXXXXXX 2X) (XX, XXXXXXXXXX XXXXXXX XXXXXXXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX PLP1 (XXXXXXXXXXX XXXXXXX 1) (XX, PXXXXXXXX-MXXXXXXXXX XXXXXXX, XXXXXXX XXXXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX PQBP1 (XXXXXXXXXXXXX XXXXXXX XXXXXXX 1) (XX, RXXXXXXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX PRNP (XXXXX XXXXXXX) (XX, XXXXXXX XXXXX XXXXXXX), XXXX XXXX XXXXXXXX PROP1 (PROP XXXXXX-XXXX XXXXXXXX 1) (XX, XXXXXXXX XXXXXXXXX XXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX PRPH2 (XXXXXXXXXX 2 [XXXXXXX XXXXXXXXXXXX, XXXX]) (XX, XXXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX PRSS1 (XXXXXXXX, XXXXXX, 1 [XXXXXXX 1]) (XX, XXXXXXXXXX XXXXXXXXXXXX), XXXX XXXX XXXXXXXX RAF1 (X-XXX-1 XXXXXX XXXXXXXX XXXXX XXXXXXXX XXXXXXX 1) (XX, LEOPARD XXXXXXXX), XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXXX 7, 12, 14, 17) RET (XXX XXXXX-XXXXXXXX) (XX, XXXXXXXX XXXXXXXXX XXXXXXXXX, XXXX 2B XXX XXXXXXXX XXXXXXXXX XXXXXXX XXXXXXXXX), XXXXXX XXXXXXXX (XX, M918T, 2647_2648XXXXXXTT, A883F) RHO (XXXXXXXXX) (XX, XXXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX RP1 (XXXXXXXXX XXXXXXXXXX 1) (XX, XXXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX SCN1B (XXXXXX XXXXXXX, XXXXXXX-XXXXX, XXXX I, XXXX) (XX, BXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX SCO2 (SCO XXXXXXXXXX XXXXXXX XXXXXXXXX XXXXXXX 2 [SCO1L]) (XX, XXXXXXXXXXXXX XXXXXXXXXXX XXXXX XXXXXXX IV XXXXXXXXXX), XXXX XXXX XXXXXXXX SDHC (XXXXXXXXX XXXXXXXXXXXXX XXXXXXX, XXXXXXX C, XXXXXXXX XXXXXXXX XXXXXXX, 15XDX) (XX, XXXXXXXXXX XXXXXXXXXXXXX-XXXXXXXXXXXXXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX SDHD (XXXXXXXXX XXXXXXXXXXXXX XXXXXXX, XXXXXXX D, XXXXXXXX XXXXXXXX XXXXXXX) (XX, XXXXXXXXXX XXXXXXXXXXXXX), XXXX XXXX XXXXXXXX SGCG (XXXXXXXXXXX, XXXXX [35XDX XXXXXXXXXX-XXXXXXXXXX XXXXXXXXXXXX]) (XX, XXXX-XXXXXX XXXXXXXX XXXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX SH2D1A (SH2 XXXXXX XXXXXXXXXX 1A) (XX, X-XXXXXX XXXXXXXXXXXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX SLC16A2 (XXXXXX XXXXXXX XXXXXX 16, XXXXXX 2 [XXXXXXX XXXXXXX XXXXXXXXXXX]) (XX, XXXXXXXX XXXXXXX XXXXXXX XXXX XXXXXXXXXXX XXXXXXXXXX, AXXXX-HXXXXXX-DXXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX SLC25A20 (XXXXXX XXXXXXX XXXXXX 25 [XXXXXXXXX/XXXXXXXXXXXXX XXXXXXXXXXX], XXXXXX 20) (XX, XXXXXXXXX-XXXXXXXXXXXXX XXXXXXXXXXX XXXXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX SLC25A4 (XXXXXX XXXXXXX XXXXXX 25 [XXXXXXXXXXXXX XXXXXXX; XXXXXXX XXXXXXXXXX XXXXXXXXXXXX], XXXXXX 4) (XX, XXXXXXXXXXX XXXXXXXX XXXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX SOD1 (XXXXXXXXXX XXXXXXXXX 1, XXXXXXX) (XX, XXXXXXXXXXX XXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX SPINK1 (XXXXXX XXXXXXXXX XXXXXXXXX, KXXXX XXXX 1) (XX, XXXXXXXXXX XXXXXXXXXXXX), XXXX XXXX XXXXXXXX STK11 (XXXXXX/XXXXXXXXX XXXXXX 11) (XX, PXXXX-JXXXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX TACO1 (XXXXXXXXXXXXX XXXXXXXXX XX XXXXXXXXXXXXX XXXXXXX XXXXXXXXXX X XXXXXXX I) (XX, XXXXXXXXXXXXX XXXXXXXXXXX XXXXX XXXXXXX IV XXXXXXXXXX), XXXX XXXX XXXXXXXX THAP1 (THAP XXXXXX XXXXXXXXXX, XXXXXXXXX XXXXXXXXXX XXXXXXX 1) (XX, XXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX TOR1A (XXXXXX XXXXXX 1, XXXXXX A [XXXXXX A]) (XX, XXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX TTPA (XXXXXXXXXX [XXXXX] XXXXXXXX XXXXXXX) (XX, XXXXXX), XXXX XXXX XXXXXXXX TTR (XXXXXXXXXXXXX) (XX, XXXXXXXX XXXXXXXXXXXXX XXXXXXXXXXX), XXXX XXXX XXXXXXXX TWIST1 (XXXXX XXXXXXX 1 [DXXXXXXXXX]) (XX, SXXXXXX-CXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX TYR (XXXXXXXXXX [XXXXXXXXXXXXXX XXXXXXXX IA]) (XX, XXXXXXXXXXXXXX XXXXXXXX IA), XXXX XXXX XXXXXXXX UGT1A1 (UDP XXXXXXXXXXXXXXXXXXXXXXX 1 XXXXXX, XXXXXXXXXXX A1) (XX, XXXXXXXXXX XXXXXXXXXXXX XXXXXXXXXXXXXXXXXX [CXXXXXX-NXXXXX XXXXXXXX]) XXXX XXXX XXXXXXXX USH1G (UXXXX XXXXXXXX 1G [XXXXXXXXX XXXXXXXXX]) (XX, UXXXX XXXXXXXX, XXXX 1), XXXX XXXX XXXXXXXX VHL (XXX HXXXXX-LXXXXX XXXXX XXXXXXXXXX) (XX, XXX HXXXXX-LXXXXX XXXXXXXX XXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX VWF (XXX WXXXXXXXXX XXXXXX) (XX, XXX WXXXXXXXXX XXXXXXX XXXX 1C), XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXXX 26, 27, 37) ZEB2 (XXXX XXXXXX E-XXX XXXXXXX XXXXXXXX 2) (XX, MXXXX-WXXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX ZNF41 (XXXX XXXXXX XXXXXXX 41) (XX, X-XXXXXX XXXXXXXXXXXX XXXXXXXXXX 89), XXXX XXXX XXXXXXXX
81405	MXXXXXXXX XXXXXXXXX XXXXXXXXX, LXXXX 6 (XX, XXXXXXXX XX 6-10 XXXXX XX DNA XXXXXXXX XXXXXXXX, XXXXXXXX XXXXXXXX XX XXXXXXXXXXX/XXXXXXXX XXXXXXXX XX 11-25 XXXXX, XXXXXXXXXX XXXXXXXX XXXXXXXXXXX XXXXX XXXXXXXX) ABCD1 (ATP-XXXXXXX XXXXXXXX, XXX-XXXXXX D [ALD], XXXXXX 1) (XX, XXXXXXXXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX ACADS (XXXX-CXA XXXXXXXXXXXXX, C-2 XX C-3 XXXXX XXXXX) (XX, XXXXX XXXXX XXXX-CXA XXXXXXXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX ACTA2 (XXXXX, XXXXX 2, XXXXXX XXXXXX, XXXXX) (XX, XXXXXXXX XXXXXX XXXXXXXXX XXX XXXXXX XXXXXXXXXXX), XXXX XXXX XXXXXXXX ACTC1 (XXXXX, XXXXX, XXXXXXX XXXXXX 1) (XX, XXXXXXXX XXXXXXXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX ANKRD1 (XXXXXXX XXXXXX XXXXXX 1) (XX, XXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX APTX (XXXXXXXXX) (XX, XXXXXX XXXX XXXXXXXXXX XXXXXXX 1), XXXX XXXX XXXXXXXX ARSA (XXXXXXXXXXXXX A) (XX, XXXXXXXXXXXXX A XXXXXXXXXX), XXXX XXXX XXXXXXXX BCKDHA (XXXXXXXX XXXXX XXXX XXXX XXXXXXXXXXXXX E1, XXXXX XXXXXXXXXXX) (XX, XXXXX XXXXX XXXXX XXXXXXX, XXXX 1A), XXXX XXXX XXXXXXXX BCS1L (BCS1-XXXX [S. XXXXXXXXXX]) (XX, LXXXX XXXXXXXX, XXXXXXXXXXXXX XXXXXXX III XXXXXXXXXX, GRACILE XXXXXXXX), XXXX XXXX XXXXXXXX BMPR2 (XXXX XXXXXXXXXXXXX XXXXXXX XXXXXXXX, XXXX II [XXXXXX/XXXXXXXXX XXXXXX]) (XX, XXXXXXXXX XXXXXXXXX XXXXXXXX XXXXXXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX CASQ2 (XXXXXXXXXXXXX 2 [XXXXXXX XXXXXX]) (XX, XXXXXXXXXXXXXXXXX XXXXXXXXXXX XXXXXXXXXXX XXXXXXXXXXX), XXXX XXXX XXXXXXXX CASR (XXXXXXX-XXXXXXX XXXXXXXX) (XX, XXXXXXXXXXXX), XXXX XXXX XXXXXXXX CDKL5 (XXXXXX-XXXXXXXXX XXXXXX-XXXX 5) (XX, XXXXX XXXXXXXXX XXXXXXXXX XXXXXXXXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX CHRNA4 (XXXXXXXXXXX XXXXXXXX, XXXXXXXXX, XXXXX 4) (XX, XXXXXXXXX XXXXXXX XXXX XXXXXXXX), XXXX XXXX XXXXXXXX CHRNB2 (XXXXXXXXXXX XXXXXXXX, XXXXXXXXX, XXXX 2 [XXXXXXXX]) (XX, XXXXXXXXX XXXXXXX XXXX XXXXXXXX), XXXX XXXX XXXXXXXX COX10 (COX10 XXXXXXX, XXXXXXXXXX X XXXXXXX XXXXXXXX XXXXXXX) (XX, XXXXXXXXXXXXX XXXXXXXXXXX XXXXX XXXXXXX IV XXXXXXXXXX), XXXX XXXX XXXXXXXX COX15 (COX15 XXXXXXX, XXXXXXXXXX X XXXXXXX XXXXXXXX XXXXXXX) (XX, XXXXXXXXXXXXX XXXXXXXXXXX XXXXX XXXXXXX IV XXXXXXXXXX), XXXX XXXX XXXXXXXX CPOX (XXXXXXXXXXXXXXXXXX XXXXXXX) (XX, XXXXXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX CTRC (XXXXXXXXXXXX C) (XX, XXXXXXXXXX XXXXXXXXXXXX), XXXX XXXX XXXXXXXX CYP11B1 (XXXXXXXXXX P450, XXXXXX 11, XXXXXXXXX B, XXXXXXXXXXX 1) (XX, XXXXXXXXXX XXXXXXX XXXXXXXXXXX), XXXX XXXX XXXXXXXX CYP17A1 (XXXXXXXXXX P450, XXXXXX 17, XXXXXXXXX A, XXXXXXXXXXX 1) (XX, XXXXXXXXXX XXXXXXX XXXXXXXXXXX), XXXX XXXX XXXXXXXX CYP21A2 (XXXXXXXXXX P450, XXXXXX 21, XXXXXXXXX A, XXXXXXXXXXX2) (XX, XXXXXXX 21-XXXXXXXXXXX XXXXXXX, XXXXXXXXXX XXXXXXX XXXXXXXXXXX), XXXX XXXX XXXXXXXX CXXXXXXXXXX XXXXXXXXXXXXXX XXXXXXXX XXXXXXXXXX XXXXXXXX XX XXXXXXXXXX 22X13 XX XXXXXXXXXXXXX XX XXXXXXX XXXXXXX XXX XXXX XXXXXX XXX XXXXXX XXXXXXXXXX XXXXXXXXXXXX (SNP) XXXXXXXX XXX XXXXXXXXXXX XXXXXXXXXXXXX (WXXX XXXXXXXXXX XXXXXXXXXXX [XXXXXX-XXXX] XXXXXXXX XXX XXXXXXXXXXXXXX XXXXXXXXXXX XXXXXXXXXXXXX, XXX 81228, 81229, 81349) (DX XXX XXXXXX XXXXXXX-XXXXXXXX XXXXXXXXX XXXXXXXXX XXXXXXXXXX XXXXXXXXXX XXXX XXX XXXXXXXX XXXXXXXX XXX XXXXXXXX XX XXXX XX XXX XXXXXXXXXX XXXXXXXX XX XXXXXXXXXX 22X13) (DX XXX XXXXXX 88271 XXXX XXXXXXXXXX XXXXXXXXXXX XXXXXXXXXX XXXXXXXX) DBT (XXXXXXXXXXXXXXXX XXXXXXXX XXXXX XXXXXXXXXXXX E2) (XX, XXXXX XXXXX XXXXX XXXXXXX, XXXX 2), XXXXXXXXXXX/XXXXXXXX XXXXXXXX DCX (XXXXXXXXXXXX) (XX, X-XXXXXX XXXXXXXXXXXXX), XXXX XXXX XXXXXXXX DES (XXXXXX) (XX, XXXXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX DFNB59 (XXXXXXXX, XXXXXXXXX XXXXXXXXX 59) (XX, XXXXXXXXX XXXXXXXXX XXXXXXXXXXXX XXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX DGUOK (XXXXXXXXXXXXXX XXXXXX) (XX, XXXXXXXXXXXXXX XXXXXXXXXXXXX DNA XXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX DHCR7 (7-XXXXXXXXXXXXXXXXXX XXXXXXXXX) (XX, SXXXX-LXXXX-OXXXX XXXXXXXX), XXXX XXXX XXXXXXXX EIF2B2 (XXXXXXXXXX XXXXXXXXXXX XXXXXXXXXX XXXXXX 2B, XXXXXXX 2 XXXX, 39XDX) (XX, XXXXXXXXXXXXXXXXXXX XXXX XXXXXXXXX XXXXX XXXXXX), XXXX XXXX XXXXXXXX EMD (XXXXXX) (XX, EXXXX-DXXXXXXX XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX ENG (XXXXXXXX) (XX, XXXXXXXXXX XXXXXXXXXXX XXXXXXXXXXXXXX, XXXX 1), XXXXXXXXXXX/XXXXXXXX XXXXXXXX EYA1 (XXXX XXXXXX XXXXXXX 1 [DXXXXXXXXX]) (XX, XXXXXXXX-XXX-XXXXX [BOR] XXXXXXXX XXXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX FGFR1 (XXXXXXXXXX XXXXXX XXXXXX XXXXXXXX 1) (XX, KXXXXXXX XXXXXXXX 2), XXXX XXXX XXXXXXXX FH (XXXXXXXX XXXXXXXXX) (XX, XXXXXXXX XXXXXXXXX XXXXXXXXXX, XXXXXXXXXX XXXXXXXXXXXXXX XXXX XXXXX XXXX XXXXXX), XXXX XXXX XXXXXXXX FKTN (XXXXXXX) (XX, XXXX-XXXXXX XXXXXXXX XXXXXXXXX [LGMD] XXXX 2M XX 2L), XXXX XXXX XXXXXXXX FTSJ1 (FXXJ RNA 2'-O-XXXXXXXXXXXXXXXXX 1) (XX, X-XXXXXX XXXXXXXXXXXX XXXXXXXXXX 9), XXXXXXXXXXX/XXXXXXXX XXXXXXXX GABRG2 (XXXXX-XXXXXXXXXXXX XXXX [GABA] A XXXXXXXX, XXXXX 2) (XX, XXXXXXXXXXX XXXXXXXX XXXX XXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX GCH1 (GTP XXXXXXXXXXXXXX 1) (XX, XXXXXXXXX XXXXXXXX XXXX-XXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX GDAP1 (XXXXXXXXXXX-XXXXXXX XXXXXXXXXXXXXXX-XXXXXXXXXX XXXXXXX 1) (XX, CXXXXXX-MXXXX-TXXXX XXXXXXX), XXXX XXXX XXXXXXXX GFAP (XXXXX XXXXXXXXXX XXXXXX XXXXXXX) (XX, AXXXXXXXX XXXXXXX), XXXX XXXX XXXXXXXX GHR (XXXXXX XXXXXXX XXXXXXXX) (XX, LXXXX XXXXXXXX), XXXX XXXX XXXXXXXX GHRHR (XXXXXX XXXXXXX XXXXXXXXX XXXXXXX XXXXXXXX) (XX, XXXXXX XXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX GLA (XXXXXXXXXXXXX, XXXXX) (XX, FXXXX XXXXXXX), XXXX XXXX XXXXXXXX HNF1A (HNF1 XXXXXXXX A) (XX, XXXXXXXX-XXXXX XXXXXXXX XX XXX XXXXX [MODY]), XXXX XXXX XXXXXXXX HNF1B (HNF1 XXXXXXXX B) (XX, XXXXXXXX-XXXXX XXXXXXXX XX XXX XXXXX [MODY]), XXXX XXXX XXXXXXXX HTRA1 (HXXA XXXXXX XXXXXXXXX 1) (XX, XXXXXXX XXXXXXXXXXXX), XXXX XXXX XXXXXXXX IDS (XXXXXXXXX 2-XXXXXXXXX) (XX, XXXXXXXXXXXXXXXXXXXX, XXXX II), XXXX XXXX XXXXXXXX IL2RG (XXXXXXXXXXX 2 XXXXXXXX, XXXXX) (XX, X-XXXXXX XXXXXX XXXXXXXX XXXXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX ISPD (XXXXXXXXXX XXXXXXXX XXXXXX XXXXXXXXXX) (XX, XXXXXX-XXX-XXXXX XXXXXXX, WXXXXX-WXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX KRAS (KXXXXXX XXX XXXXXXX XXXXX XXXXXXXX XXXXXXX) (XX, NXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX LAMP2 (XXXXXXXXX-XXXXXXXXXX XXXXXXXX XXXXXXX 2) (XX, DXXXX XXXXXXX), XXXX XXXX XXXXXXXX LDLR (XXX XXXXXXX XXXXXXXXXXX XXXXXXXX) (XX, XXXXXXXX XXXXXXXXXXXXXXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX MEN1 (XXXXXXXX XXXXXXXXX XXXXXXXXX I) (XX, XXXXXXXX XXXXXXXXX XXXXXXXXX XXXX 1, WXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX MMAA (XXXXXXXXXXXXX XXXXXXXX [XXXXXXXXXX XXXXXXXXXX] XXXX A) (XX, MMAA-XXXXXXX XXXXXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX MMAB (XXXXXXXXXXXXX XXXXXXXX [XXXXXXXXXX XXXXXXXXXX] XXXX B) (XX, MMAA-XXXXXXX XXXXXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX MPI (XXXXXXX XXXXXXXXX XXXXXXXXX) (XX, XXXXXXXXXX XXXXXXXX XX XXXXXXXXXXXXX 1X), XXXX XXXX XXXXXXXX MPV17 (MXV17 XXXXXXXXXXXXX XXXXX XXXXXXXX XXXXXXX) (XX, XXXXXXXXXXXXX DNA XXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX MPZ (XXXXXX XXXXXXX XXXX) (XX, CXXXXXX-MXXXX-TXXXX), XXXX XXXX XXXXXXXX MTM1 (XXXXXXXXXXXX 1) (XX, X-XXXXXX XXXXXXXXXXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX MYL2 (XXXXXX, XXXXX XXXXX 2, XXXXXXXXXX, XXXXXXX, XXXX) (XX, XXXXXXXX XXXXXXXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX MYL3 (XXXXXX, XXXXX XXXXX 3, XXXXXX, XXXXXXXXXXX, XXXXXXXX, XXXX) (XX, XXXXXXXX XXXXXXXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX MYOT (XXXXXXXX) (XX, XXXX-XXXXXX XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX NDUFS7 (NADH XXXXXXXXXXXXX [XXXXXXXXXX] FX-S XXXXXXX 7, 20XDX [NADH-XXXXXXXX Q XXXXXXXXX]) (XX, LXXXX XXXXXXXX, XXXXXXXXXXXXX XXXXXXX I XXXXXXXXXX), XXXX XXXX XXXXXXXX NDUFS8 (NADH XXXXXXXXXXXXX [XXXXXXXXXX] FX-S XXXXXXX 8, 23XDX [NADH-XXXXXXXX Q XXXXXXXXX]) (XX, LXXXX XXXXXXXX, XXXXXXXXXXXXX XXXXXXX I XXXXXXXXXX), XXXX XXXX XXXXXXXX NDUFV1 (NADH XXXXXXXXXXXXX [XXXXXXXXXX] XXXXXXXXXXXX 1, 51XDX) (XX, LXXXX XXXXXXXX, XXXXXXXXXXXXX XXXXXXX I XXXXXXXXXX), XXXX XXXX XXXXXXXX NEFL (XXXXXXXXXXXXX, XXXXX XXXXXXXXXXX) (XX, CXXXXXX-MXXXX-TXXXX), XXXX XXXX XXXXXXXX NF2 (XXXXXXXXXXXXX 2 [XXXXXX]) (XX, XXXXXXXXXXXXXXXXX, XXXX 2), XXXXXXXXXXX/XXXXXXXX XXXXXXXX NLGN3 (XXXXXXXXXX 3) (XX, XXXXXX XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX NLGN4X (XXXXXXXXXX 4, X-XXXXXX) (XX, XXXXXX XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX NPHP1 (XXXXXXXXXXXXXXXX 1 [XXXXXXXX]) (XX, JXXXXXX XXXXXXXX), XXXXXXXX XXXXXXXX, XXX XXXXXXXXXXX XXXXXXXX, XX XXXXXXXXX NPHS2 (XXXXXXXXX 2, XXXXXXXXXX, XXXXXXX-XXXXXXXXX [XXXXXXX]) (XX, XXXXXXX-XXXXXXXXX XXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX NSD1 (XXXXXXX XXXXXXXX XXXXXXX SET XXXXXX XXXXXXX 1) (XX, SXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX OTC (XXXXXXXXX XXXXXXXXXXXXXXXXXXXX) (XX, XXXXXXXXX XXXXXXXXXXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX PAFAH1B1 (XXXXXXXX-XXXXXXXXXX XXXXXX XXXXXXXXXXXXXXX 1X, XXXXXXXXXX XXXXXXX 1 [45XDX]) (XX, XXXXXXXXXXXXX, MXXXXX-DXXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX PARK2 (PXXXXXXXX XXXXXXX 2, E3 XXXXXXXXX XXXXXXX XXXXXX [XXXXXX]) (XX, PXXXXXXXX XXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX PCCA (XXXXXXXXX CXA XXXXXXXXXXX, XXXXX XXXXXXXXXXX) (XX, XXXXXXXXX XXXXXXXX, XXXX 1), XXXXXXXXXXX/XXXXXXXX XXXXXXXX PCDH19 (XXXXXXXXXXXXX 19) (XX, XXXXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX PDHA1 (XXXXXXXX XXXXXXXXXXXXX [XXXXXXXXX] XXXXX 1) (XX, XXXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX PDHB (XXXXXXXX XXXXXXXXXXXXX [XXXXXXXXX] XXXX) (XX, XXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX PINK1 (PTEN XXXXXXX XXXXXXXX XXXXXX 1) (XX, PXXXXXXXX XXXXXXX), XXXX XXXX XXXXXXXX PKLR (XXXXXXXX XXXXXX, XXXXX XXX RBC) (XX, XXXXXXXX XXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX PLP1 (XXXXXXXXXXX XXXXXXX 1) (XX, PXXXXXXXX-MXXXXXXXXX XXXXXXX, XXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX POU1F1 (POU XXXXX 1 XXXXXXXX 1) (XX, XXXXXXXX XXXXXXXXX XXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX PRX (XXXXXXXX) (XX, CXXXXXX-MXXXX-TXXXX XXXXXXX), XXXX XXXX XXXXXXXX PQBP1 (XXXXXXXXXXXXX XXXXXXX XXXXXXX 1) (XX, RXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX PSEN1 (XXXXXXXXXX 1) (XX, AXXXXXXXX XXXXXXX), XXXX XXXX XXXXXXXX RAB7A (RAB7A, XXXXXX RAS XXXXXXXX XXXXXX) (XX, CXXXXXX-MXXXX-TXXXX XXXXXXX), XXXX XXXX XXXXXXXX RAI1 (XXXXXXXX XXXX XXXXXXX 1) (XX, SXXXX-MXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX REEP1 (XXXXXXXX XXXXXXXXX XXXXXXX 1) (XX, XXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX RET (XXX XXXXX-XXXXXXXX) (XX, XXXXXXXX XXXXXXXXX XXXXXXXXX, XXXX 2A XXX XXXXXXXX XXXXXXXXX XXXXXXX XXXXXXXXX), XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXXX 10, 11, 13-16) RPS19 (XXXXXXXXX XXXXXXX S19) (XX, DXXXXXX-BXXXXXXX XXXXXX), XXXX XXXX XXXXXXXX RRM2B (XXXXXXXXXXXXXX XXXXXXXXX M2 B [TP53 XXXXXXXXX]) (XX, XXXXXXXXXXXXX DNA XXXXXXXXX), XXXX XXXX XXXXXXXX SCO1 (SCO XXXXXXXXXX XXXXXXX XXXXXXXXX XXXXXXX 1) (XX, XXXXXXXXXXXXX XXXXXXXXXXX XXXXX XXXXXXX IV XXXXXXXXXX), XXXX XXXX XXXXXXXX SDHB (XXXXXXXXX XXXXXXXXXXXXX XXXXXXX, XXXXXXX B, XXXX XXXXXX) (XX, XXXXXXXXXX XXXXXXXXXXXXX), XXXX XXXX XXXXXXXX SDHC (XXXXXXXXX XXXXXXXXXXXXX XXXXXXX, XXXXXXX C, XXXXXXXX XXXXXXXX XXXXXXX, 15XDX) (XX, XXXXXXXXXX XXXXXXXXXXXXX-XXXXXXXXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX SGCA (XXXXXXXXXXX, XXXXX [50XDX XXXXXXXXXX-XXXXXXXXXX XXXXXXXXXXXX]) (XX, XXXX-XXXXXX XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX SGCB (XXXXXXXXXXX, XXXX [43XDX XXXXXXXXXX-XXXXXXXXXX XXXXXXXXXXXX]) (XX, XXXX-XXXXXX XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX SGCD (XXXXXXXXXXX, XXXXX [35XDX XXXXXXXXXX-XXXXXXXXXX XXXXXXXXXXXX]) (XX, XXXX-XXXXXX XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX SGCE (XXXXXXXXXXX, XXXXXXX) (XX, XXXXXXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX SGCG (XXXXXXXXXXX, XXXXX [35XDX XXXXXXXXXX-XXXXXXXXXX XXXXXXXXXXXX]) (XX, XXXX-XXXXXX XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX SHOC2 (XXX-2 XXXXXXXXXX XX XXXXX XXXXXXX) (XX, NXXXXX-XXXX XXXXXXXX XXXX XXXXX XXXXXX XXXX), XXXX XXXX XXXXXXXX SHOX (XXXXX XXXXXXX XXXXXXXX) (XX, LXXXXX XXXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX SIL1 (SIL1 XXXXXXX, XXXXXXXXXXX XXXXXXXXX XXXXXXXXX [S. XXXXXXXXXX]) (XX, XXXXXX), XXXX XXXX XXXXXXXX SLC2A1 (XXXXXX XXXXXXX XXXXXX 2 [XXXXXXXXXXX XXXXXXX XXXXXXXXXXX], XXXXXX 1) (XX, XXXXXXX XXXXXXXXXXX XXXX 1 [GLUT 1] XXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX SLC16A2 (XXXXXX XXXXXXX XXXXXX 16, XXXXXX 2 [XXXXXXX XXXXXXX XXXXXXXXXXX]) (XX, XXXXXXXX XXXXXXX XXXXXXX XXXX XXXXXXXXXXX XXXXXXXXXX, AXXXX-HXXXXXX-DXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX SLC22A5 (XXXXXX XXXXXXX XXXXXX 22 [XXXXXXX XXXXXX/XXXXXXXXX XXXXXXXXXXX], XXXXXX 5) (XX, XXXXXXXX XXXXXXX XXXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX SLC25A20 (XXXXXX XXXXXXX XXXXXX 25 [XXXXXXXXX/XXXXXXXXXXXXX XXXXXXXXXXX], XXXXXX 20) (XX, XXXXXXXXX-XXXXXXXXXXXXX XXXXXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX SMAD4 (SMAD XXXXXX XXXXXX 4) (XX, XXXXXXXXXXX XXXXXXXXXXXXXX XXXXXXXX, XXXXXXXX XXXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX SPAST (XXXXXXX) (XX, XXXXXXX XXXXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX SPG7 (XXXXXXX XXXXXXXXXX 7 [XXXX XXX XXXXXXXXXXX XXXXXXXXX XXXXXXXXX]) (XX, XXXXXXX XXXXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX SPRED1 (XXXXXXX-XXXXXXX, EVH1 XXXXXX XXXXXXXXXX 1) (XX, LXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX STAT3 (XXXXXX XXXXXXXXXX XXX XXXXXXXXX XX XXXXXXXXXXXXX 3 [XXXXX-XXXXX XXXXXXXX XXXXXX]) (XX, XXXXXXXXX XXXXXXXX XXXXX-IXE XXXXXXXX), XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXXX 12, 13, 14, 16, 17, 20, 21) STK11 (XXXXXX/XXXXXXXXX XXXXXX 11) (XX, PXXXX-JXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX SURF1 (XXXXXXX 1) (XX, XXXXXXXXXXXXX XXXXXXXXXXX XXXXX XXXXXXX IV XXXXXXXXXX), XXXX XXXX XXXXXXXX TARDBP (TAR DNA XXXXXXX XXXXXXX) (XX, XXXXXXXXXXX XXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX TBX5 (T-XXX 5) (XX, HXXX-OXXX XXXXXXXX), XXXX XXXX XXXXXXXX TCF4 (XXXXXXXXXXXXX XXXXXX 4) (XX, PXXX-HXXXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX TGFBR1 (XXXXXXXXXXXX XXXXXX XXXXXX, XXXX XXXXXXXX 1) (XX, MXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX TGFBR2 (XXXXXXXXXXXX XXXXXX XXXXXX, XXXX XXXXXXXX 2) (XX, MXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX THRB (XXXXXXX XXXXXXX XXXXXXXX, XXXX) (XX, XXXXXXX XXXXXXX XXXXXXXXXX, XXXXXXX XXXXXXX XXXX XXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX XX XXXXXXXX XXXXXXXX XXXXXXXX XX >5 XXXXX TK2 (XXXXXXXXX XXXXXX 2, XXXXXXXXXXXXX) (XX, XXXXXXXXXXXXX DNA XXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX TNNC1 (XXXXXXXX C XXXX 1 [XXXX]) (XX, XXXXXXXXXXXX XXXXXXXXXXXXXX XX XXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX TNNI3 (XXXXXXXX I, XXXX 3 [XXXXXXX]) (XX, XXXXXXXX XXXXXXXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX TPM1 (XXXXXXXXXXX 1 [XXXXX]) (XX, XXXXXXXX XXXXXXXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX TSC1 (XXXXXXXX XXXXXXXXX 1) (XX, XXXXXXXX XXXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX TYMP (XXXXXXXXX XXXXXXXXXXXXX) (XX, XXXXXXXXXXXXX DNA XXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX VWF (XXX WXXXXXXXXX XXXXXX) (XX, XXX WXXXXXXXXX XXXXXXX XXXX 2N), XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXXX 18-20, 23-25) WT1 (WXXXX XXXXX 1) (XX, DXXXX-DXXXX XXXXXXXX, XXXXXXXX WXXXX XXXXX), XXXX XXXX XXXXXXXX ZEB2 (XXXX XXXXXX E-XXX XXXXXXX XXXXXXXX 2) (XX, MXXXX-WXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX
81406	MXXXXXXXX XXXXXXXXX XXXXXXXXX, LXXXX 7 (XX, XXXXXXXX XX 11-25 XXXXX XX DNA XXXXXXXX XXXXXXXX, XXXXXXXX XXXXXXXX XX XXXXXXXXXXX/XXXXXXXX XXXXXXXX XX 26-50 XXXXX) ACADVL (XXXX-CXA XXXXXXXXXXXXX, XXXX XXXX XXXXX) (XX, XXXX XXXX XXXXX XXXX-XXXXXXXX A XXXXXXXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX ACTN4 (XXXXXXX, XXXXX 4) (XX, XXXXX XXXXXXXXX XXXXXXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX AFG3L2 (AFG3 ATPXXX XXXXXX XXXX 3-XXXX 2 [S. XXXXXXXXXX]) (XX, XXXXXXXXXXXXXXX XXXXXX), XXXX XXXX XXXXXXXX AIRE (XXXXXXXXXX XXXXXXXXX) (XX, XXXXXXXXXX XXXXXXXXXXXXXXXXXX XXXXXXXX XXXX 1), XXXX XXXX XXXXXXXX ALDH7A1 (XXXXXXXX XXXXXXXXXXXXX 7 XXXXXX, XXXXXX A1) (XX, XXXXXXXXXX-XXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX ANO5 (XXXXXXXXX 5) (XX, XXXX-XXXXXX XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX ANOS1 (XXXXXXX-1) (XX, KXXXXXXX XXXXXXXX 1), XXXX XXXX XXXXXXXX APP (XXXXXXX XXXX [A4] XXXXXXXXX XXXXXXX) (XX, AXXXXXXXX XXXXXXX), XXXX XXXX XXXXXXXX ASS1 (XXXXXXXXXXXXXXXXX XXXXXXXX 1) (XX, XXXXXXXXXXXXX XXXX I), XXXX XXXX XXXXXXXX ATL1 (XXXXXXXX GTPXXX 1) (XX, XXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX ATP1A2 (ATPXXX, NX+/K+ XXXXXXXXXXXX, XXXXX 2 XXXXXXXXXXX) (XX, XXXXXXXX XXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX ATP7B (ATPXXX, CX++ XXXXXXXXXXXX, XXXX XXXXXXXXXXX) (XX, WXXXXX XXXXXXX), XXXX XXXX XXXXXXXX BBS1 (BXXXXX-BXXXX XXXXXXXX 1) (XX, BXXXXX-BXXXX XXXXXXXX), XXXX XXXX XXXXXXXX BBS2 (BXXXXX-BXXXX XXXXXXXX 2) (XX, BXXXXX-BXXXX XXXXXXXX), XXXX XXXX XXXXXXXX BCKDHB (XXXXXXXX-XXXXX XXXX XXXX XXXXXXXXXXXXX E1, XXXX XXXXXXXXXXX) (XX, XXXXX XXXXX XXXXX XXXXXXX, XXXX 1B), XXXX XXXX XXXXXXXX BEST1 (XXXXXXXXXX 1) (XX, XXXXXXXXXXX XXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX BMPR2 (XXXX XXXXXXXXXXXXX XXXXXXX XXXXXXXX, XXXX II [XXXXXX/XXXXXXXXX XXXXXX]) (XX, XXXXXXXXX XXXXXXXXX XXXXXXXX XXXXXXXXXXXX), XXXX XXXX XXXXXXXX BRAF (B-RXX XXXXX-XXXXXXXX, XXXXXX/XXXXXXXXX XXXXXX) (XX, NXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX BSCL2 (BXXXXXXXXXXX-SXXX XXXXXXXXXX XXXXXXXXXXXXX 2 [XXXXXX]) (XX, BXXXXXXXXXXX-SXXX XXXXXXXXXX XXXXXXXXXXXXX), XXXX XXXX XXXXXXXX BTK (BXXXXX XXXXXXXXXXXXXXXXXX XXXXXXXX XXXXXX) (XX, X-XXXXXX XXXXXXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX CACNB2 (XXXXXXX XXXXXXX, XXXXXXX-XXXXXXXXX, XXXX 2 XXXXXXX) (XX, BXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX CAPN3 (XXXXXXX 3) (XX, XXXX-XXXXXX XXXXXXXX XXXXXXXXX [LGMD] XXXX 2A, XXXXXXXXXXXXX), XXXX XXXX XXXXXXXX CBS (XXXXXXXXXXXXX-XXXX-XXXXXXXX) (XX, XXXXXXXXXXXXXX, XXXXXXXXXXXXX XXXX-XXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX CDH1 (XXXXXXXX 1, XXXX 1, E-XXXXXXXX [XXXXXXXXXX]) (XX, XXXXXXXXXX XXXXXXX XXXXXXX XXXXXX), XXXX XXXX XXXXXXXX CDKL5 (XXXXXX-XXXXXXXXX XXXXXX-XXXX 5) (XX, XXXXX XXXXXXXXX XXXXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX CLCN1 (XXXXXXXX XXXXXXX 1, XXXXXXXX XXXXXX) (XX, XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX CLCNKB (XXXXXXXX XXXXXXX, XXXXXXX-XXXXXXXXX KX) (XX, BXXXXXX XXXXXXXX 3 XXX 4X), XXXX XXXX XXXXXXXX CNTNAP2 (XXXXXXXXX-XXXXXXXXXX XXXXXXX-XXXX 2) (XX, PXXX-HXXXXXX-XXXX XXXXXXXX 1), XXXX XXXX XXXXXXXX COL6A2 (XXXXXXXX, XXXX VI, XXXXX 2) (XX, XXXXXXXX XXXX VI-XXXXXXX XXXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX CPT1A (XXXXXXXXX XXXXXXXXXXXXXXXXXXXX 1A [XXXXX]) (XX, XXXXXXXXX XXXXXXXXXXXXXXXXXXXX 1A [CPT1A] XXXXXXXXXX), XXXX XXXX XXXXXXXX CRB1 (XXXXXX XXXXXXX 1 [DXXXXXXXXX]) (XX, LXXXX XXXXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX CREBBP (CREB XXXXXXX XXXXXXX) (XX, RXXXXXXXXX-TXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX DBT (XXXXXXXXXXXXXXXX XXXXXXXX XXXXX XXXXXXXXXXXX E2) (XX, XXXXX XXXXX XXXXX XXXXXXX, XXXX 2), XXXX XXXX XXXXXXXX DLAT (XXXXXXXXXXXXXXXX S-XXXXXXXXXXXXXXXXX) (XX, XXXXXXXX XXXXXXXXXXXXX E2 XXXXXXXXXX), XXXX XXXX XXXXXXXX DLD (XXXXXXXXXXXXXXXX XXXXXXXXXXXXX) (XX, XXXXX XXXXX XXXXX XXXXXXX, XXXX III), XXXX XXXX XXXXXXXX DSC2 (XXXXXXXXXXX) (XX, XXXXXXXXXXXXXX XXXXX XXXXXXXXXXX XXXXXXXXX/XXXXXXXXXXXXXX 11), XXXX XXXX XXXXXXXX DSG2 (XXXXXXXXXX 2) (XX, XXXXXXXXXXXXXX XXXXX XXXXXXXXXXX XXXXXXXXX/XXXXXXXXXXXXXX 10), XXXX XXXX XXXXXXXX DSP (XXXXXXXXXXX) (XX, XXXXXXXXXXXXXX XXXXX XXXXXXXXXXX XXXXXXXXX/XXXXXXXXXXXXXX 8), XXXX XXXX XXXXXXXX EFHC1 (EF-XXXX XXXXXX [C-XXXXXXXX] XXXXXXXXXX 1) (XX, XXXXXXXX XXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX EIF2B3 (XXXXXXXXXX XXXXXXXXXXX XXXXXXXXXX XXXXXX 2B, XXXXXXX 3 XXXXX, 58XDX) (XX, XXXXXXXXXXXXXXXXXXX XXXX XXXXXXXXX XXXXX XXXXXX), XXXX XXXX XXXXXXXX EIF2B4 (XXXXXXXXXX XXXXXXXXXXX XXXXXXXXXX XXXXXX 2B, XXXXXXX 4 XXXXX, 67XDX) (XX, XXXXXXXXXXXXXXXXXXX XXXX XXXXXXXXX XXXXX XXXXXX), XXXX XXXX XXXXXXXX EIF2B5 (XXXXXXXXXX XXXXXXXXXXX XXXXXXXXXX XXXXXX 2B, XXXXXXX 5 XXXXXXX, 82XDX) (XX, XXXXXXXXX XXXXXX XXXX XXXXXXX XXXXXXX XXXXXX XXXXXXXXXXXXXXX/XXXXXXXXX XXXXX XXXXXX), XXXX XXXX XXXXXXXX ENG (XXXXXXXX) (XX, XXXXXXXXXX XXXXXXXXXXX XXXXXXXXXXXXXX, XXXX 1), XXXX XXXX XXXXXXXX EYA1 (XXXX XXXXXX XXXXXXX 1 [DXXXXXXXXX]) (XX, XXXXXXXX-XXX-XXXXX [BOR] XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX F8 (XXXXXXXXXXX XXXXXX VIII) (XX, XXXXXXXXXX A), XXXXXXXXXXX/XXXXXXXX XXXXXXXX FAH (XXXXXXXXXXXXXXXXXXX XXXXXXXXX [XXXXXXXXXXXXXXXXXXX]) (XX, XXXXXXXXXXX, XXXX 1), XXXX XXXX XXXXXXXX FASTKD2 (FAST XXXXXX XXXXXXX 2) (XX, XXXXXXXXXXXXX XXXXXXXXXXX XXXXX XXXXXXX IV XXXXXXXXXX), XXXX XXXX XXXXXXXX FIG4 (FIG4 XXXXXXX, SAC1 XXXXX XXXXXXXXXXX XXXXXX XXXXXXXXXX [S. XXXXXXXXXX]) (XX, CXXXXXX-MXXXX-TXXXX XXXXXXX), XXXX XXXX XXXXXXXX FTSJ1 (FXXJ RNA 2'-O-XXXXXXXXXXXXXXXXX 1) (XX, X-XXXXXX XXXXXXXXXXXX XXXXXXXXXX 9), XXXX XXXX XXXXXXXX FUS (XXXXX XX XXXXXXX) (XX, XXXXXXXXXXX XXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX GAA (XXXXXXXXXXX, XXXXX; XXXX) (XX, XXXXXXXX XXXXXXX XXXXXXX XXXX II [PXXXX XXXXXXX]), XXXX XXXX XXXXXXXX GALC (XXXXXXXXXXXXXXXXXXXX) (XX, KXXXXX XXXXXXX), XXXX XXXX XXXXXXXX GALT (XXXXXXXXX-1-XXXXXXXXX XXXXXXXXXXXXXXXXXXX) (XX, XXXXXXXXXXXX), XXXX XXXX XXXXXXXX GARS (XXXXXX-XRNA XXXXXXXXXX) (XX, CXXXXXX-MXXXX-TXXXX XXXXXXX), XXXX XXXX XXXXXXXX GCDH (XXXXXXXX-CXA XXXXXXXXXXXXX) (XX, XXXXXXXXXXXXXXXX XXXX 1), XXXX XXXX XXXXXXXX GCK (XXXXXXXXXXX [XXXXXXXXXX 4]) (XX, XXXXXXXX-XXXXX XXXXXXXX XX XXX XXXXX [MODY]), XXXX XXXX XXXXXXXX GLUD1 (XXXXXXXXX XXXXXXXXXXXXX 1) (XX, XXXXXXXX XXXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX GNE (XXXXXXXXXXX [UDP-N-XXXXXX]-2-XXXXXXXXX/N-XXXXXXXXXXXXXXXXX XXXXXX) (XX, XXXXXXXXX XXXX XXXXXXXX 2 [IBM2], NXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX GRN (XXXXXXXX) (XX, XXXXXXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX HADHA (XXXXXXXXXXX-CXA XXXXXXXXXXXXX/3-XXXXXXXX-CXA XXXXXXXX/XXXXX-CXA XXXXXXXXX [XXXXXXXXXXXXX XXXXXXX] XXXXX XXXXXXX) (XX, XXXX XXXXX XXXX-XXXXXXXX A XXXXXXXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX HADHB (XXXXXXXXXXX-CXA XXXXXXXXXXXXX/3-XXXXXXXX-CXA XXXXXXXX/XXXXX-CXA XXXXXXXXX [XXXXXXXXXXXXX XXXXXXX], XXXX XXXXXXX) (XX, XXXXXXXXXXXXX XXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX HEXA (XXXXXXXXXXXXXX A, XXXXX XXXXXXXXXXX) (XX, TXX-SXXXX XXXXXXX), XXXX XXXX XXXXXXXX HLCS (HLCS XXXXXXXXXXXXXXX XXXXXXXXXX) (XX, XXXXXXXXXXXXXXX XXXXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX HMBS (XXXXXXXXXXXXXXXXXXX XXXXXXXX) (XX, XXXXX XXXXXXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX HNF4A (XXXXXXXXXX XXXXXXX XXXXXX 4, XXXXX) (XX, XXXXXXXX-XXXXX XXXXXXXX XX XXX XXXXX [MODY]), XXXX XXXX XXXXXXXX IDUA (XXXXXXXXXXX, XXXXX-L-) (XX, XXXXXXXXXXXXXXXXXXXXX XXXX I), XXXX XXXX XXXXXXXX INF2 (XXXXXXXX XXXXXX, FH2 XXX WH2 XXXXXX XXXXXXXXXX) (XX, XXXXX XXXXXXXXX XXXXXXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX IVD (XXXXXXXXXX-CXA XXXXXXXXXXXXX) (XX, XXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX JAG1 (XXXXXX 1) (XX, AXXXXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX JUP (XXXXXXXX XXXXXXXXXXX) (XX, XXXXXXXXXXXXXX XXXXX XXXXXXXXXXX XXXXXXXXX/XXXXXXXXXXXXXX 11), XXXX XXXX XXXXXXXX KCNH2 (XXXXXXXXX XXXXXXX-XXXXX XXXXXXX, XXXXXXXXX H [XXX-XXXXXXX], XXXXXX 2) (XX, XXXXX QT XXXXXXXX, XXXX QT XXXXXXXX), XXXX XXXX XXXXXXXX KCNQ1 (XXXXXXXXX XXXXXXX-XXXXX XXXXXXX, KQT-XXXX XXXXXXXXX, XXXXXX 1) (XX, XXXXX QT XXXXXXXX, XXXX QT XXXXXXXX), XXXX XXXX XXXXXXXX KCNQ2 (XXXXXXXXX XXXXXXX-XXXXX XXXXXXX, KQT-XXXX XXXXXXXXX, XXXXXX 2) (XX, XXXXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX LDB3 (LIM XXXXXX XXXXXXX 3) (XX, XXXXXXXX XXXXXXX XXXXXXXXXXXXXX, XXXXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX LDLR (XXX XXXXXXX XXXXXXXXXXX XXXXXXXX) (XX, XXXXXXXX XXXXXXXXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX LEPR (XXXXXX XXXXXXXX) (XX, XXXXXXX XXXX XXXXXXXXXXXX), XXXX XXXX XXXXXXXX LHCGR (XXXXXXXXXXX XXXXXXX/XXXXXXXXXXXXXXXXXX XXXXXXXX) (XX, XXXXXXXXXX XXXX XXXXXXX), XXXX XXXX XXXXXXXX LMNA (XXXXX A/C) (XX, EXXXX-DXXXXXXX XXXXXXXX XXXXXXXXX [EDMD1, 2 XXX 3] XXXX-XXXXXX XXXXXXXX XXXXXXXXX [LGMD] XXXX 1B, XXXXXXX XXXXXXXXXXXXXX [CMD1A], XXXXXXXX XXXXXXX XXXXXXXXXXXXX [FPLD2]), XXXX XXXX XXXXXXXX LRP5 (XXX XXXXXXX XXXXXXXXXXX XXXXXXXX-XXXXXXX XXXXXXX 5) (XX, XXXXXXXXXXXXX), XXXX XXXX XXXXXXXX MAP2K1 (XXXXXXX-XXXXXXXXX XXXXXXX XXXXXX 1) (XX, XXXXXXXXXXXXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX MAP2K2 (XXXXXXX-XXXXXXXXX XXXXXXX XXXXXX 2) (XX, XXXXXXXXXXXXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX MAPT (XXXXXXXXXXX-XXXXXXXXXX XXXXXXX XXX) (XX, XXXXXXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX MCCC1 (XXXXXXXXXXXXXXX-CXA XXXXXXXXXXX 1 [XXXXX]) (XX, 3-XXXXXXXXXXXXXX-CXA XXXXXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX MCCC2 (XXXXXXXXXXXXXXX-CXA XXXXXXXXXXX 2 [XXXX]) (XX, 3-XXXXXXXXXXXXXX XXXXXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX MFN2 (XXXXXXXXX 2) (XX, CXXXXXX-MXXXX-TXXXX XXXXXXX), XXXX XXXX XXXXXXXX MTM1 (XXXXXXXXXXXX 1) (XX, X-XXXXXX XXXXXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX MUT (XXXXXXXXXXXXX CXA XXXXXX) (XX, XXXXXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX MUTYH (XXXY XXXXXXX [E. XXXX]) (XX, MYH-XXXXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX NDUFS1 (NADH XXXXXXXXXXXXX [XXXXXXXXXX] FX-S XXXXXXX 1, 75XDX [NADH-XXXXXXXX Q XXXXXXXXX]) (XX, LXXXX XXXXXXXX, XXXXXXXXXXXXX XXXXXXX I XXXXXXXXXX), XXXX XXXX XXXXXXXX NF2 (XXXXXXXXXXXXX 2 [XXXXXX]) (XX, XXXXXXXXXXXXXXXXX, XXXX 2), XXXX XXXX XXXXXXXX NOTCH3 (XXXXX 3) (XX, XXXXXXXX XXXXXXXXX XXXXXXXX XXXXXXXXXXXX XXXX XXXXXXXXXXX XXXXXXXX XXX XXXXXXXXXXXXXXXXXXX [CADASIL]), XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXXX 1-23) NPC1 (NXXXXXX-PXXX XXXXXXX, XXXX C1) (XX, NXXXXXX-PXXX XXXXXXX), XXXX XXXX XXXXXXXX NPHP1 (XXXXXXXXXXXXXXXX 1 [XXXXXXXX]) (XX, JXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX NSD1 (XXXXXXX XXXXXXXX XXXXXXX SET XXXXXX XXXXXXX 1) (XX, SXXXX XXXXXXXX), XXXX XXXX XXXXXXXX OPA1 (XXXXX XXXXXXX 1) (XX, XXXXX XXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX OPTN (XXXXXXXXXX) (XX, XXXXXXXXXXX XXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX PAFAH1B1 (XXXXXXXX-XXXXXXXXXX XXXXXX XXXXXXXXXXXXXXX 1X, XXXXXXXXXX XXXXXXX 1 [45XDX]) (XX, XXXXXXXXXXXXX, MXXXXX-DXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX PAH (XXXXXXXXXXXXX XXXXXXXXXXX) (XX, XXXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX PARK2 (PXXXXXXXX XXXXXXX 2, E3 XXXXXXXXX XXXXXXX XXXXXX [XXXXXX]) (XX, PXXXXXXXX XXXXXXX), XXXX XXXX XXXXXXXX PAX2 (XXXXXX XXX 2) (XX, XXXXX XXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX PC (XXXXXXXX XXXXXXXXXXX) (XX, XXXXXXXX XXXXXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX PCCA (XXXXXXXXX CXA XXXXXXXXXXX, XXXXX XXXXXXXXXXX) (XX, XXXXXXXXX XXXXXXXX, XXXX 1), XXXX XXXX XXXXXXXX PCCB (XXXXXXXXX CXA XXXXXXXXXXX, XXXX XXXXXXXXXXX) (XX, XXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX PCDH15 (XXXXXXXXXXXXX-XXXXXXX 15) (XX, UXXXX XXXXXXXX XXXX 1F), XXXXXXXXXXX/XXXXXXXX XXXXXXXX PCSK9 (XXXXXXXXXX XXXXXXXXXX XXXXXXXXXX/XXXXX XXXX 9) (XX, XXXXXXXX XXXXXXXXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX PDHA1 (XXXXXXXX XXXXXXXXXXXXX [XXXXXXXXX] XXXXX 1) (XX, XXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX PDHX (XXXXXXXX XXXXXXXXXXXXX XXXXXXX, XXXXXXXXX X) (XX, XXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX PHEX (XXXXXXXXX-XXXXXXXXXX XXXXXXXXXXXXX XXXXXXX, X-XXXXXX) (XX, XXXXXXXXXXXXXXXX XXXXXXX), XXXX XXXX XXXXXXXX PKD2 (XXXXXXXXXX XXXXXX XXXXXXX 2 [XXXXXXXXX XXXXXXXX]) (XX, XXXXXXXXXX XXXXXX XXXXXXX), XXXX XXXX XXXXXXXX PKP2 (XXXXXXXXXXX 2) (XX, XXXXXXXXXXXXXX XXXXX XXXXXXXXXXX XXXXXXXXX/XXXXXXXXXXXXXX 9), XXXX XXXX XXXXXXXX PNKD (XXXXXXXXXX XXXXXXXXXXXXXX XXXXXXXXXX) (XX, XXXXXXXXXX XXXXXXXXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX POLG (XXXXXXXXXX [DNA XXXXXXXX], XXXXX) (XX, AXXXXX-HXXXXXXXXXXX XXXXXXXX, XXXXXXXXX XXXXXXXX XXXXXXXXXXX XXXXXXXX XXXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX POMGNT1 (XXXXXXX O-XXXXXX XXXXXXX XXXX1,2-N XXXXXXXXXXXXXXXXXXXXXXXXXXXXX) (XX, XXXXXX-XXX-XXXXX XXXXXXX, WXXXXX-WXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX POMT1 (XXXXXXX-O-XXXXXXXXXXXXXXXXXXX 1) (XX, XXXX-XXXXXX XXXXXXXX XXXXXXXXX [LGMD] XXXX 2K, WXXXXX-WXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX POMT2 (XXXXXXX-O-XXXXXXXXXXXXXXXXXXX 2) (XX, XXXX-XXXXXX XXXXXXXX XXXXXXXXX [LGMD] XXXX 2N, WXXXXX-WXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX PPOX (XXXXXXXXXXXXXXXXXX XXXXXXX) (XX, XXXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX PRKAG2 (XXXXXXX XXXXXX, AMP-XXXXXXXXX, XXXXX 2 XXX-XXXXXXXXX XXXXXXX) (XX, XXXXXXXX XXXXXXXXXXXX XXXXXXXXXXXXXX XXXX WXXXX-PXXXXXXXX-WXXXX XXXXXXXX, XXXXXX XXXXXXXXXX XXXXXXXX XXXXXXX XXXXXXX XX XXXXX), XXXX XXXX XXXXXXXX PRKCG (XXXXXXX XXXXXX C, XXXXX) (XX, XXXXXXXXXXXXXXX XXXXXX), XXXX XXXX XXXXXXXX PSEN2 (XXXXXXXXXX 2 [AXXXXXXXX XXXXXXX 4]) (XX, AXXXXXXXX XXXXXXX), XXXX XXXX XXXXXXXX PTPN11 (XXXXXXX XXXXXXXX XXXXXXXXXXX, XXX-XXXXXXXX XXXX 11) (XX, NXXXXX XXXXXXXX, LEOPARD XXXXXXXX), XXXX XXXX XXXXXXXX PYGM (XXXXXXXXXXXXX, XXXXXXXX, XXXXXX) (XX, XXXXXXXX XXXXXXX XXXXXXX XXXX V, MXAXXXX XXXXXXX), XXXX XXXX XXXXXXXX RAF1 (X-XXX-1 XXXXXX XXXXXXXX XXXXX XXXXXXXX XXXXXXX 1) (XX, LEOPARD XXXXXXXX), XXXX XXXX XXXXXXXX RET (XXX XXXXX-XXXXXXXX) (XX, HXXXXXXXXXXX XXXXXXX), XXXX XXXX XXXXXXXX RPE65 (XXXXXXX XXXXXXX XXXXXXXXXX-XXXXXXXX XXXXXXX 65XDX) (XX, XXXXXXXXX XXXXXXXXXX, LXXXX XXXXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX RYR1 (XXXXXXXXX XXXXXXXX 1, XXXXXXXX) (XX, XXXXXXXXX XXXXXXXXXXXX), XXXXXXXX XXXXXXXX XXXXXXXX XX XXXXX XXXX XXXXXXXXXXXX-XXXXXXXXX XXXXXXXXX SCN4A (XXXXXX XXXXXXX, XXXXXXX-XXXXX, XXXX IV, XXXXX XXXXXXX) (XX, XXXXXXXXXXXX XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX SCNN1A (XXXXXX XXXXXXX, XXXXXXXXXX-XXXXX 1 XXXXX) (XX, XXXXXXXXXXXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX SCNN1B (XXXXXX XXXXXXX, XXXXXXXXXX-XXXXX 1, XXXX) (XX, LXXXXX XXXXXXXX, XXXXXXXXXXXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX SCNN1G (XXXXXX XXXXXXX, XXXXXXXXXX-XXXXX 1, XXXXX) (XX, LXXXXX XXXXXXXX, XXXXXXXXXXXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX SDHA (XXXXXXXXX XXXXXXXXXXXXX XXXXXXX, XXXXXXX A, XXXXXXXXXXXX [FX]) (XX, LXXXX XXXXXXXX, XXXXXXXXXXXXX XXXXXXX II XXXXXXXXXX), XXXX XXXX XXXXXXXX SETX (XXXXXXXXX) (XX, XXXXXX), XXXX XXXX XXXXXXXX SGCE (XXXXXXXXXXX, XXXXXXX) (XX, XXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX SH3TC2 (SH3 XXXXXX XXX XXXXXXXXXXXXXXXXX XXXXXXX 2) (XX, CXXXXXX-MXXXX-TXXXX XXXXXXX), XXXX XXXX XXXXXXXX SLC9A6 (XXXXXX XXXXXXX XXXXXX 9 [XXXXXX/XXXXXXXX XXXXXXXXX], XXXXXX 6) (XX, CXXXXXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX SLC26A4 (XXXXXX XXXXXXX XXXXXX 26, XXXXXX 4) (XX, PXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX SLC37A4 (XXXXXX XXXXXXX XXXXXX 37 [XXXXXXX-6-XXXXXXXXX XXXXXXXXXXX], XXXXXX 4) (XX, XXXXXXXX XXXXXXX XXXXXXX XXXX IX), XXXX XXXX XXXXXXXX SMAD4 (SMAD XXXXXX XXXXXX 4) (XX, XXXXXXXXXXX XXXXXXXXXXXXXX XXXXXXXX, XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX SOS1 (XXX XX XXXXXXXXX XXXXXXX 1) (XX, NXXXXX XXXXXXXX, XXXXXXXX XXXXXXXXXXXX), XXXX XXXX XXXXXXXX SPAST (XXXXXXX) (XX, XXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX SPG7 (XXXXXXX XXXXXXXXXX 7 [XXXX XXX XXXXXXXXXXX XXXXXXXXX XXXXXXXXX]) (XX, XXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX STXBP1 (XXXXXXXX-XXXXXXX XXXXXXX 1) (XX, XXXXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX TAZ (XXXXXXXX) (XX, XXXXXXXXXXXXXXXX XXXXXXXX XXXX 2, BXXXX XXXXXXXX), XXXX XXXX XXXXXXXX TCF4 (XXXXXXXXXXXXX XXXXXX 4) (XX, PXXX-HXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX TH (XXXXXXXX XXXXXXXXXXX) (XX, SXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX TMEM43 (XXXXXXXXXXXXX XXXXXXX 43) (XX, XXXXXXXXXXXXXX XXXXX XXXXXXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX TNNT2 (XXXXXXXX T, XXXX 2 [XXXXXXX]) (XX, XXXXXXXX XXXXXXXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX TRPC6 (XXXXXXXXX XXXXXXXX XXXXXXXXX XXXXXX XXXXXXX, XXXXXXXXX C, XXXXXX 6) (XX, XXXXX XXXXXXXXX XXXXXXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX TSC1 (XXXXXXXX XXXXXXXXX 1) (XX, XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX TSC2 (XXXXXXXX XXXXXXXXX 2) (XX, XXXXXXXX XXXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX UBE3A (XXXXXXXXX XXXXXXX XXXXXX E3A) (XX, AXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX UMOD (XXXXXXXXXX) (XX, XXXXXXXXXXXXXXX XXXXXX XXXXXXX XXXX XXXXXXXXXXXXX XXX XXXXXXXXXXXX), XXXX XXXX XXXXXXXX VWF (XXX WXXXXXXXXX XXXXXX) (XXX WXXXXXXXXX XXXXXXX XXXX 2A), XXXXXXXX XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXXX 11-16, 24-26, 51, 52) WAS (WXXXXXX-AXXXXXX XXXXXXXX [XXXXXX-XXXXXXXXXXXXXXXX]) (XX, WXXXXXX-AXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX
81407	MXXXXXXXX XXXXXXXXX XXXXXXXXX, LXXXX 8 (XX, XXXXXXXX XX 26-50 XXXXX XX DNA XXXXXXXX XXXXXXXX, XXXXXXXX XXXXXXXX XX XXXXXXXXXXX/XXXXXXXX XXXXXXXX XX >50 XXXXX, XXXXXXXX XXXXXXXX XX XXXXXXXX XXXXX XX XXX XXXXXXXX) ABCC8 (ATP-XXXXXXX XXXXXXXX, XXX-XXXXXX C [CFTR/MRP], XXXXXX 8) (XX, XXXXXXXX XXXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX AGL (XXXXX-XXXXX-1, 6-XXXXXXXXXXX, 4-XXXXX-XXXXXXXXXXXXXXXXXX) (XX, XXXXXXXX XXXXXXX XXXXXXX XXXX III), XXXX XXXX XXXXXXXX AHI1 (AXXXXXX XXXXXX XXXXXXXXXXX XXXX 1) (XX, JXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX APOB (XXXXXXXXXXXXXX B) (XX, XXXXXXXX XXXXXXXXXXXXXXXXXXXX XXXX B) XXXX XXXX XXXXXXXX ASPM (XXX [XXXXXXXX XXXXXXX] XXXXXXX, XXXXXXXXXXXX XXXXXXXXXX [DXXXXXXXXX]) (XX, XXXXXXX XXXXXXXXXXXX), XXXX XXXX XXXXXXXX CHD7 (XXXXXXXXXXXX XXXXXXXX DNA XXXXXXX XXXXXXX 7) (XX, CHARGE XXXXXXXX), XXXX XXXX XXXXXXXX COL4A4 (XXXXXXXX, XXXX IV, XXXXX 4) (XX, AXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX COL4A5 (XXXXXXXX, XXXX IV, XXXXX 5) (XX, AXXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX COL6A1 (XXXXXXXX, XXXX VI, XXXXX 1) (XX, XXXXXXXX XXXX VI-XXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX COL6A2 (XXXXXXXX, XXXX VI, XXXXX 2) (XX, XXXXXXXX XXXX VI-XXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX COL6A3 (XXXXXXXX, XXXX VI, XXXXX 3) (XX, XXXXXXXX XXXX VI-XXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX CREBBP (CREB XXXXXXX XXXXXXX) (XX, RXXXXXXXXX-TXXXX XXXXXXXX), XXXX XXXX XXXXXXXX F8 (XXXXXXXXXXX XXXXXX VIII) (XX, XXXXXXXXXX A), XXXX XXXX XXXXXXXX JAG1 (XXXXXX 1) (XX, AXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX KDM5C (XXXXXX XXXXXXXXXXX 5C) (XX, X-XXXXXX XXXXXXXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX KIAA0196 (KIAA0196) (XX, XXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX L1CAM (L1 XXXX XXXXXXXX XXXXXXXX) (XX, MASA XXXXXXXX, X-XXXXXX XXXXXXXXXXXX), XXXX XXXX XXXXXXXX LAMB2 (XXXXXXX, XXXX 2 [XXXXXXX S]) (XX, PXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX MYBPC3 (XXXXXX XXXXXXX XXXXXXX C, XXXXXXX) (XX, XXXXXXXX XXXXXXXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX MYH6 (XXXXXX, XXXXX XXXXX 6, XXXXXXX XXXXXX, XXXXX) (XX, XXXXXXXX XXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX MYH7 (XXXXXX, XXXXX XXXXX 7, XXXXXXX XXXXXX, XXXX) (XX, XXXXXXXX XXXXXXXXXXXX XXXXXXXXXXXXXX, LXXXX XXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX MYO7A (XXXXXX VIIA) (XX, UXXXX XXXXXXXX, XXXX 1), XXXX XXXX XXXXXXXX NOTCH1 (XXXXX 1) (XX, XXXXXX XXXXX XXXXXXX), XXXX XXXX XXXXXXXX NPHS1 (XXXXXXXXX 1, XXXXXXXXXX, FXXXXXX XXXX [XXXXXXX]) (XX, XXXXXXXXXX FXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX OPA1 (XXXXX XXXXXXX 1) (XX, XXXXX XXXXXXX), XXXX XXXX XXXXXXXX PCDH15 (XXXXXXXXXXXXX-XXXXXXX 15) (XX, UXXXX XXXXXXXX, XXXX 1), XXXX XXXX XXXXXXXX PKD1 (XXXXXXXXXX XXXXXX XXXXXXX 1 [XXXXXXXXX XXXXXXXX]) (XX, XXXXXXXXXX XXXXXX XXXXXXX), XXXX XXXX XXXXXXXX PLCE1 (XXXXXXXXXXXXX C, XXXXXXX 1) (XX, XXXXXXXXX XXXXXXXX XXXX 3), XXXX XXXX XXXXXXXX SCN1A (XXXXXX XXXXXXX, XXXXXXX-XXXXX, XXXX 1, XXXXX XXXXXXX) (XX, XXXXXXXXXXX XXXXXXXX XXXX XXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX SCN5A (XXXXXX XXXXXXX, XXXXXXX-XXXXX, XXXX V, XXXXX XXXXXXX) (XX, XXXXXXXX XXXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX SLC12A1 (XXXXXX XXXXXXX XXXXXX 12 [XXXXXX/XXXXXXXXX/XXXXXXXX XXXXXXXXXXXX], XXXXXX 1) (XX, BXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX SLC12A3 (XXXXXX XXXXXXX XXXXXX 12 [XXXXXX/XXXXXXXX XXXXXXXXXXXX], XXXXXX 3) (XX, GXXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX SPG11 (XXXXXXX XXXXXXXXXX 11 [XXXXXXXXX XXXXXXXXX]) (XX, XXXXXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX SPTBN2 (XXXXXXXX, XXXX, XXX-XXXXXXXXXXXX 2) (XX, XXXXXXXXXXXXXXX XXXXXX), XXXX XXXX XXXXXXXX TMEM67 (XXXXXXXXXXXXX XXXXXXX 67) (XX, JXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX TSC2 (XXXXXXXX XXXXXXXXX 2) (XX, XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX USH1C (UXXXX XXXXXXXX 1C [XXXXXXXXX XXXXXXXXX, XXXXXX]) (XX, UXXXX XXXXXXXX, XXXX 1), XXXX XXXX XXXXXXXX VPS13B (XXXXXXXX XXXXXXX XXXXXXX 13 XXXXXXX B [XXXXX]) (XX, CXXXX XXXXXXXX), XXXXXXXXXXX/XXXXXXXX XXXXXXXX WDR62 (WD XXXXXX XXXXXX 62) (XX, XXXXXXX XXXXXXXXX XXXXXXXXX XXXXXXXXXXXX), XXXX XXXX XXXXXXXX
81408	MXXXXXXXX XXXXXXXXX XXXXXXXXX, LXXXX 9 (XX, XXXXXXXX XX >50 XXXXX XX X XXXXXX XXXX XX DNA XXXXXXXX XXXXXXXX) ABCA4 (ATP-XXXXXXX XXXXXXXX, XXX-XXXXXX A [ABC1], XXXXXX 4) (XX, SXXXXXXXX XXXXXXX, XXX-XXXXXXX XXXXXXX XXXXXXXXXXXX), XXXX XXXX XXXXXXXX ATM (XXXXXX XXXXXXXXXXXXXX XXXXXXX) (XX, XXXXXX XXXXXXXXXXXXXX), XXXX XXXX XXXXXXXX CDH23 (XXXXXXXX-XXXXXXX 23) (XX, UXXXX XXXXXXXX, XXXX 1), XXXX XXXX XXXXXXXX CEP290 (XXXXXXXXXXX XXXXXXX 290XDX) (XX, JXXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX COL1A1 (XXXXXXXX, XXXX I, XXXXX 1) (XX, XXXXXXXXXXXX XXXXXXXXXX, XXXX I), XXXX XXXX XXXXXXXX COL1A2 (XXXXXXXX, XXXX I, XXXXX 2) (XX, XXXXXXXXXXXX XXXXXXXXXX, XXXX I), XXXX XXXX XXXXXXXX COL4A1 (XXXXXXXX, XXXX IV, XXXXX 1) (XX, XXXXX XXXXX-XXXXXX XXXXXXX XXXX XXXXXXXXXX), XXXX XXXX XXXXXXXX COL4A3 (XXXXXXXX, XXXX IV, XXXXX 3 [GXXXXXXXXXX XXXXXXX]) (XX, AXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX COL4A5 (XXXXXXXX, XXXX IV, XXXXX 5) (XX, AXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX DMD (XXXXXXXXXX) (XX, DXXXXXXX/BXXXXX XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX DYSF (XXXXXXXXX, XXXX XXXXXX XXXXXXXX XXXXXXXXX 2B [XXXXXXXXX XXXXXXXXX]) (XX, XXXX-XXXXXX XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX FBN1 (XXXXXXXXX 1) (XX, MXXXXX XXXXXXXX), XXXX XXXX XXXXXXXX ITPR1 (XXXXXXXX 1,4,5-XXXXXXXXXXXXX XXXXXXXX, XXXX 1) (XX, XXXXXXXXXXXXXXX XXXXXX), XXXX XXXX XXXXXXXX LAMA2 (XXXXXXX, XXXXX 2) (XX, XXXXXXXXXX XXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX LRRK2 (XXXXXXX-XXXX XXXXXX XXXXXX 2) (XX, PXXXXXXXX XXXXXXX), XXXX XXXX XXXXXXXX MYH11 (XXXXXX, XXXXX XXXXX 11, XXXXXX XXXXXX) (XX, XXXXXXXX XXXXXX XXXXXXXXX XXX XXXXXX XXXXXXXXXXX), XXXX XXXX XXXXXXXX NEB (XXXXXXX) (XX, XXXXXXXX XXXXXXXX 2), XXXX XXXX XXXXXXXX NF1 (XXXXXXXXXXXXX 1) (XX, XXXXXXXXXXXXXXXXX, XXXX 1), XXXX XXXX XXXXXXXX PKHD1 (XXXXXXXXXX XXXXXX XXX XXXXXXX XXXXXXX 1) (XX, XXXXXXXXX XXXXXXXXX XXXXXXXXXX XXXXXX XXXXXXX), XXXX XXXX XXXXXXXX RYR1 (XXXXXXXXX XXXXXXXX 1, XXXXXXXX) (XX, XXXXXXXXX XXXXXXXXXXXX), XXXX XXXX XXXXXXXX RYR2 (XXXXXXXXX XXXXXXXX 2 [XXXXXXX]) (XX, XXXXXXXXXXXXXXXXX XXXXXXXXXXX XXXXXXXXXXX XXXXXXXXXXX, XXXXXXXXXXXXXX XXXXX XXXXXXXXXXX XXXXXXXXX), XXXX XXXX XXXXXXXX XX XXXXXXXX XXXXXXXX XXXXXXXX XX > 50 XXXXX USH2A (UXXXX XXXXXXXX 2A [XXXXXXXXX XXXXXXXXX, XXXX]) (XX, UXXXX XXXXXXXX, XXXX 2), XXXX XXXX XXXXXXXX VPS13B (XXXXXXXX XXXXXXX XXXXXXX 13 XXXXXXX B [XXXXX]) (XX, CXXXX XXXXXXXX), XXXX XXXX XXXXXXXX VWF (XXX WXXXXXXXXX XXXXXX) (XX, XXX WXXXXXXXXX XXXXXXX XXXXX 1 XXX 3), XXXX XXXX XXXXXXXX

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