NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)
|
rs398607
|
0.49946
|
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser)
|
rs743616
|
0.48362
|
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
|
rs2071421
|
0.19530
|
NM_000153.4(GALC):c.742G>A (p.Asp248Asn)
|
rs34362748
|
0.11424
|
NM_000487.6(ARSA):c.*96A>G
|
rs6151429
|
0.05120
|
NM_000153.4(GALC):c.550C>T (p.Arg184Cys)
|
rs1805078
|
0.03877
|
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)
|
rs6339
|
0.03698
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825
|
0.00295
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_017411.4(SMN2):c.859G>C (p.Gly287Arg)
|
rs121909192
|
0.00208
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)
|
rs28940893
|
0.00037
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00018
|
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)
|
rs143441644
|
0.00017
|
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077
|
0.00015
|
NM_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
0.00011
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
NM_000370.3(TTPA):c.575G>A (p.Arg192His)
|
rs121917850
|
0.00010
|
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)
|
rs200960659
|
0.00009
|
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)
|
rs121918232
|
0.00009
|
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
NM_000487.6(ARSA):c.641C>T (p.Ala214Val)
|
rs74315467
|
0.00006
|
NM_001358921.2(COQ2):c.232A>G (p.Met78Val)
|
rs778094136
|
0.00006
|
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)
|
rs61752093
|
0.00006
|
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter)
|
rs771578775
|
0.00006
|
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser)
|
rs119468009
|
0.00006
|
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)
|
rs104894707
|
0.00006
|
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)
|
rs200796606
|
0.00005
|
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
|
rs121909152
|
0.00005
|
NM_004750.5(CRLF1):c.242G>A (p.Arg81His)
|
rs104894670
|
0.00005
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)
|
rs74315458
|
0.00004
|
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)
|
rs74315456
|
0.00004
|
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)
|
rs199422220
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
NM_001358921.2(COQ2):c.440G>A (p.Arg147His)
|
rs121918231
|
0.00003
|
NM_002529.4(NTRK1):c.851-33T>A
|
rs80356674
|
0.00003
|
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)
|
rs121434379
|
0.00003
|
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)
|
rs201908721
|
0.00003
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)
|
rs80338931
|
0.00003
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)
|
rs199847983
|
0.00002
|
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)
|
rs35916840
|
0.00002
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn)
|
rs121918233
|
0.00002
|
NM_002529.4(NTRK1):c.287+2dup
|
rs768373757
|
0.00002
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
NM_020312.4(COQ9):c.730C>T (p.Arg244Ter)
|
rs267606751
|
0.00002
|
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu)
|
rs118203956
|
0.00002
|
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)
|
rs80338923
|
0.00002
|
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)
|
rs80338925
|
0.00002
|
NM_213655.5(WNK1):c.3301C>T (p.Gln1101Ter)
|
rs111033590
|
0.00002
|
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter)
|
rs80338652
|
0.00001
|
NM_000153.4(GALC):c.169G>A (p.Gly57Ser)
|
rs11623
|
0.00001
|
NM_000166.6(GJB1):c.415G>A (p.Val139Met)
|
rs104894812
|
0.00001
|
NM_000288.4(PEX7):c.854A>G (p.His285Arg)
|
rs62653611
|
0.00001
|
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)
|
rs397515522
|
0.00001
|
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)
|
rs397515524
|
0.00001
|
NM_000487.6(ARSA):c.1210+1G>A
|
rs80338820
|
0.00001
|
NM_000487.6(ARSA):c.769G>C (p.Asp257His)
|
rs80338819
|
0.00001
|
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)
|
rs281865128
|
0.00001
|
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
|
rs137852973
|
0.00001
|
NM_001358921.2(COQ2):c.1009C>T (p.Arg337Ter)
|
rs751185256
|
0.00001
|
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)
|
rs118203974
|
0.00001
|
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647
|
0.00001
|
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)
|
rs370531212
|
0.00001
|
NM_004750.5(CRLF1):c.676dup (p.Thr226fs)
|
rs761746361
|
0.00001
|
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter)
|
rs119483085
|
0.00001
|
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)
|
rs119482083
|
0.00001
|
NM_016035.5(COQ4):c.190C>T (p.Pro64Ser)
|
rs766317663
|
0.00001
|
NM_016035.5(COQ4):c.421C>T (p.Arg141Ter)
|
rs775607037
|
0.00001
|
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)
|
rs281865060
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_020247.5(COQ8A):c.1136T>A (p.Leu379Ter)
|
rs747150601
|
0.00001
|
NM_020247.5(COQ8A):c.1523T>C (p.Phe508Ser)
|
rs1057519343
|
0.00001
|
NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys)
|
rs119468008
|
0.00001
|
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)
|
rs119468005
|
0.00001
|
NM_020381.4(PDSS2):c.964C>T (p.Gln322Ter)
|
rs118203955
|
0.00001
|
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)
|
rs80338932
|
0.00001
|
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)
|
rs104894708
|
0.00001
|
NM_182476.3(COQ6):c.1235A>G (p.Tyr412Cys)
|
rs374270071
|
0.00001
|
NM_182476.3(COQ6):c.564G>A (p.Trp188Ter)
|
rs1057519349
|
0.00001
|
NC_012920.1(MT-ATP6):m.8839G>C
|
rs1556423547
|
|
NC_012920.1(MT-ATP6):m.8851T>C
|
rs199476136
|
|
NC_012920.1(MT-ATP6):m.8989G>C
|
rs587776444
|
|
NC_012920.1(MT-ATP6):m.8993T>C
|
rs199476133
|
|
NC_012920.1(MT-ATP6):m.8993T>G
|
rs199476133
|
|
NC_012920.1(MT-ATP6):m.9176T>C
|
rs199476135
|
|
NC_012920.1(MT-ATP6):m.9176T>G
|
rs199476135
|
|
NC_012920.1(MT-ATP6):m.9185T>C
|
rs199476138
|
|
NC_012920.1(MT-ATP6):m.9191T>C
|
rs1556423632
|
|
NC_012920.1(MT-CO3):m.9478T>C
|
rs587776437
|
|
NC_012920.1(MT-CO3):m.9537dup
|
rs267606614
|
|
NC_012920.1(MT-ND1):m.1624C>T
|
rs199476144
|
|
NC_012920.1(MT-ND1):m.1644G>T
|
rs587776441
|
|
NC_012920.1(MT-ND1):m.3460G>A
|
rs199476118
|
|
NC_012920.1(MT-ND1):m.3481G>A
|
rs587776433
|
|
NC_012920.1(MT-ND1):m.3890G>A
|
rs587776434
|
|
NC_012920.1(MT-ND1):m.3928G>C
|
rs587776442
|
|
NC_012920.1(MT-ND2):m.4681T>C
|
rs267606889
|
|
NC_012920.1(MT-ND3):m.10158T>C
|
rs199476117
|
|
NC_012920.1(MT-ND3):m.10191T>C
|
rs267606890
|
|
NC_012920.1(MT-ND3):m.10197G>A
|
rs267606891
|
|
NC_012920.1(MT-ND3):m.10254G>A
|
rs587776438
|
|
NC_012920.1(MT-ND4):m.11777C>A
|
rs28384199
|
|
NC_012920.1(MT-ND4):m.11984T>C
|
rs200911567
|
|
NC_012920.1(MT-ND5):m.12706T>C (p.Phe124Leu)
|
rs267606893
|
|
NC_012920.1(MT-ND5):m.13513G>A
|
rs267606897
|
|
NC_012920.1(MT-ND5):m.13514A>G
|
rs587776440
|
|
NC_012920.1(MT-ND6):m.14459G>A
|
rs199476105
|
|
NC_012920.1(MT-ND6):m.14484T>C
|
rs199476104
|
|
NC_012920.1(MT-ND6):m.14487T>C
|
rs199476109
|
|
NC_012920.1(MT-TK):m.8344A>G
|
rs118192098
|
|
NC_012920.1(MT-TK):m.8363G>A
|
rs118192100
|
|
NC_012920.1(MT-TL1):m.3243A>G
|
rs199474657
|
|
NC_012920.1(MT-TS2):m.8483_13459del
|
|
|
NC_012920.1(MT-TW):m.5523T>G
|
rs587776435
|
|
NC_012920.1(MT-TW):m.5537_5538insT
|
rs199474672
|
|
NC_012920.1(MT-TW):m.5559A>G
|
rs1556423008
|
|
NM_000081.2(LYST):c.7060_7066delCTATTAG
|
rs80338661
|
|
NM_000081.3(LYST):c.9107_9162del (p.Gly3036Glufs)
|
|
|
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser)
|
rs80338669
|
|
NM_000081.4(LYST):c.10395del (p.Gly3466fs)
|
rs80338670
|
|
NM_000081.4(LYST):c.11102G>T (p.Cys3701Phe)
|
|
|
NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)
|
|
|
NM_000081.4(LYST):c.118dup (p.Ala40fs)
|
rs80338642
|
|
NM_000081.4(LYST):c.1467del (p.Glu489fs)
|
rs80338644
|
|
NM_000081.4(LYST):c.148C>T (p.Arg50Ter)
|
rs80338643
|
|
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter)
|
rs80338645
|
|
NM_000081.4(LYST):c.1902dup (p.Ala635fs)
|
rs80338646
|
|
NM_000081.4(LYST):c.2413del (p.Glu805fs)
|
rs80338647
|
|
NM_000081.4(LYST):c.2454del (p.Ala819fs)
|
rs80338648
|
|
NM_000081.4(LYST):c.2623del (p.Tyr875fs)
|
rs80338649
|
|
NM_000081.4(LYST):c.3073_3074del (p.Asn1025fs)
|
rs80338650
|
|
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter)
|
rs80338651
|
|
NM_000081.4(LYST):c.3434dup (p.His1145fs)
|
|
|
NM_000081.4(LYST):c.3622C>T (p.Gln1208Ter)
|
|
|
NM_000081.4(LYST):c.3944dup (p.Val1316fs)
|
|
|
NM_000081.4(LYST):c.4052C>G (p.Ser1351Ter)
|
rs80338654
|
|
NM_000081.4(LYST):c.4274del (p.Leu1425fs)
|
rs80338656
|
|
NM_000081.4(LYST):c.4361C>A (p.Ala1454Asp)
|
rs80338655
|
|
NM_000081.4(LYST):c.4688G>A (p.Arg1563His)
|
rs80338657
|
|
NM_000081.4(LYST):c.5061T>A (p.Tyr1687Ter)
|
rs80338658
|
|
NM_000081.4(LYST):c.5317del (p.Arg1773fs)
|
rs80338659
|
|
NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)
|
|
|
NM_000081.4(LYST):c.5541_5542del (p.Arg1848fs)
|
|
|
NM_000081.4(LYST):c.5996T>A (p.Val1999Asp)
|
rs28942077
|
|
NM_000081.4(LYST):c.6078C>A (p.Tyr2026Ter)
|
rs80338660
|
|
NM_000081.4(LYST):c.7555del (p.Tyr2519fs)
|
rs80338662
|
|
NM_000081.4(LYST):c.772T>C (p.Cys258Arg)
|
|
|
NM_000081.4(LYST):c.7982C>G (p.Ser2661Ter)
|
|
|
NM_000081.4(LYST):c.8281A>T (p.Arg2761Ter)
|
|
|
NM_000081.4(LYST):c.8428G>A (p.Glu2810Lys)
|
rs80338663
|
|
NM_000081.4(LYST):c.8583G>A (p.Trp2861Ter)
|
rs80338664
|
|
NM_000081.4(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077delinsPhePheGlnTer)
|
rs80338666
|
|
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
|
|
|
NM_000081.4(LYST):c.9590del (p.Tyr3197fs)
|
rs80338667
|
|
NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
|
|
|
NM_000081.4(LYST):c.9893del (p.Phe3298fs)
|
rs80338668
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000153.4(GALC):c.1472del (p.Lys491fs)
|
rs771489305
|
|
NM_000153.4(GALC):c.560A>T (p.Asp187Val)
|
rs997021099
|
|
NM_000153.4(GALC):c.953C>T (p.Pro318Leu)
|
|
|
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp)
|
rs116840816
|
|
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro)
|
rs116840817
|
|
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)
|
rs104894824
|
|
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)
|
rs116840818
|
|
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)
|
rs116840819
|
|
NM_000166.6(GJB1):c.225del (p.Leu76fs)
|
rs116840820
|
|
NM_000166.6(GJB1):c.407T>C (p.Val136Ala)
|
rs104894826
|
|
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)
|
rs116840815
|
|
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)
|
rs116840822
|
|
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)
|
rs116840821
|
|
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)
|
rs104894822
|
|
NM_000217.3(KCNA1):c.676A>G (p.Thr226Ala)
|
rs104894354
|
|
NM_000217.3(KCNA1):c.677C>G (p.Thr226Arg)
|
rs28933383
|
|
NM_000217.3(KCNA1):c.677C>T (p.Thr226Met)
|
rs28933383
|
|
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp)
|
rs61753230
|
|
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)
|
rs62636519
|
|
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)
|
rs61753233
|
|
NM_000288.4(PEX7):c.45_52dup (p.His18fs)
|
rs63535662
|
|
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys)
|
rs797044846
|
|
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)
|
rs104894623
|
|
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.289del (p.Tyr97fs)
|
rs1597607713
|
|
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
|
rs28936682
|
|
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)
|
rs104894617
|
|
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)
|
rs104894625
|
|
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)
|
rs104894626
|
|
NM_000370.3(TTPA):c.191A>G (p.Asp64Gly)
|
rs397515523
|
|
NM_000370.3(TTPA):c.205-1G>T
|
rs886040963
|
|
NM_000370.3(TTPA):c.303T>G (p.His101Gln)
|
rs121917849
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
NM_000370.3(TTPA):c.548T>C (p.Leu183Pro)
|
rs397515525
|
|
NM_000370.3(TTPA):c.552+2T>A
|
rs886040964
|
|
NM_000370.3(TTPA):c.736G>C (p.Gly246Arg)
|
rs397515526
|
|
NM_000370.3(TTPA):c.744del (p.Glu249fs)
|
rs397515377
|
|
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)
|
rs104894161
|
|
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln)
|
rs281865136
|
|
NM_000399.5(EGR2):c.1142G>A (p.Arg381His)
|
rs281865137
|
|
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg)
|
rs281865138
|
|
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr)
|
rs104894160
|
|
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn)
|
rs281865139
|
|
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)
|
rs104894159
|
|
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn)
|
rs104894158
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile)
|
rs74315481
|
|
NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs)
|
rs80338823
|
|
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp)
|
rs74315455
|
|
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)
|
rs74315471
|
|
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)
|
rs121913598
|
|
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile)
|
rs281865133
|
|
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr)
|
rs281865122
|
|
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)
|
rs797044845
|
|
NM_000530.8(MPZ):c.224A>T (p.Asp75Val)
|
rs121913597
|
|
NM_000530.8(MPZ):c.241C>T (p.His81Tyr)
|
rs281865123
|
|
NM_000530.8(MPZ):c.242A>G (p.His81Arg)
|
rs121913594
|
|
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)
|
rs281865124
|
|
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr)
|
rs267607244
|
|
NM_000530.8(MPZ):c.306del (p.Asp104fs)
|
rs281865125
|
|
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)
|
rs281865130
|
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595
|
|
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)
|
rs281865127
|
|
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys)
|
rs121913599
|
|
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg)
|
rs281865128
|
|
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg)
|
rs121913586
|
|
NM_000530.8(MPZ):c.588dup (p.Met197fs)
|
rs281865129
|
|
NM_000530.8(MPZ):c.645+1G>T
|
rs281865131
|
|
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser)
|
rs281865132
|
|
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)
|
rs267607247
|
|
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)
|
rs281865121
|
|
NM_000784.4(CYP27A1):c.355del (p.Arg119fs)
|
rs587778793
|
|
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe)
|
rs116840823
|
|
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp)
|
rs80338761
|
|
NM_001113491.2(SEPTIN9):c.332C>T (p.Ser111Phe)
|
rs80338762
|
|
NM_001113491.2(SEPTIN9):c.76+12996G>C
|
rs80338760
|
|
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp)
|
rs137852973
|
|
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)
|
|
|
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly)
|
rs281865134
|
|
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519
|
|
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn)
|
rs104894520
|
|
NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly)
|
rs104894521
|
|
NM_001136472.2(LITAF):c.385G>A (p.Ala129Thr)
|
rs797044847
|
|
NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr)
|
rs281865135
|
|
NM_001136472.2(LITAF):c.403C>T (p.Pro135Ser)
|
rs281865135
|
|
NM_001136472.2(LITAF):c.404C>G (p.Pro135Arg)
|
rs797044848
|
|
NM_001349253.2(SCN11A):c.2432T>C (p.Leu811Pro)
|
rs483352920
|
|
NM_001349253.2(SCN11A):c.3904C>T (p.Leu1302Phe)
|
rs1553633131
|
|
NM_001358263.1(HK1):c.-290G>C
|
rs797044964
|
|
NM_001358921.2(COQ2):c.1047del (p.Asn351fs)
|
rs750710187
|
|
NM_001358921.2(COQ2):c.395T>G (p.Met132Arg)
|
rs1057519348
|
|
NM_001358921.2(COQ2):c.740A>G (p.Tyr247Cys)
|
rs121918230
|
|
NM_001358921.2(COQ2):c.755C>T (p.Ala252Val)
|
rs762616589
|
|
NM_001370298.3(FGD4):c.1304T>C (p.Met435Thr)
|
rs63749871
|
|
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg)
|
rs63749871
|
|
NM_001370298.3(FGD4):c.1736G>A (p.Arg579His)
|
rs281865063
|
|
NM_001370298.3(FGD4):c.2109G>H (p.Met703Ile)
|
rs281865064
|
|
NM_001370298.3(FGD4):c.2173-2A>G
|
rs281865065
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001386140.1(MTTP):c.1304T>A (p.Leu435His)
|
rs1560621495
|
|
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile)
|
rs199422222
|
|
NM_001386140.1(MTTP):c.2237G>A (p.Gly746Glu)
|
rs767833468
|
|
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr)
|
rs199422221
|
|
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)
|
rs1554338260
|
|
NM_002047.4(GARS1):c.1415A>G (p.His472Arg)
|
rs1060502838
|
|
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)
|
rs137852646
|
|
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)
|
rs137852645
|
|
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro)
|
rs137852644
|
|
NM_002047.4(GARS1):c.598G>T (p.Asp200Tyr)
|
rs1554337369
|
|
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)
|
rs137852643
|
|
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu)
|
rs137852648
|
|
NM_002529.4(NTRK1):c.1633-1G>T
|
rs1571699664
|
|
NM_002529.4(NTRK1):c.1660del (p.Arg554fs)
|
rs80356675
|
|
NM_002529.4(NTRK1):c.1860_1861insT (p.Pro621fs)
|
rs80356676
|
|
NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr)
|
rs80356677
|
|
NM_002529.4(NTRK1):c.25C>T (p.Gln9Ter)
|
rs80356673
|
|
NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp)
|
rs80338731
|
|
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)
|
rs80338732
|
|
NM_004750.5(CRLF1):c.1121T>G (p.Leu374Arg)
|
rs104894668
|
|
NM_004750.5(CRLF1):c.226T>G (p.Trp76Gly)
|
rs137853143
|
|
NM_004750.5(CRLF1):c.713dup (p.Pro239fs)
|
rs768727082
|
|
NM_006158.5(NEFL):c.1001A>C (p.Gln334Pro)
|
rs281865140
|
|
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg)
|
rs61491953
|
|
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919
|
|
NM_006158.5(NEFL):c.446C>T (p.Ala149Val)
|
rs59101996
|
|
NM_006158.5(NEFL):c.64C>A (p.Pro22Thr)
|
rs28928910
|
|
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)
|
rs28928910
|
|
NM_006158.5(NEFL):c.65C>G (p.Pro22Arg)
|
rs267607538
|
|
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala)
|
rs119482084
|
|
NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr)
|
rs119482081
|
|
NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp)
|
rs119482082
|
|
NM_014317.5(PDSS1):c.1108A>C (p.Ser370Arg)
|
rs1057519354
|
|
NM_014317.5(PDSS1):c.661_662insT (p.Arg221fs)
|
rs1057519353
|
|
NM_014317.5(PDSS1):c.924T>G (p.Asp308Glu)
|
rs119463988
|
|
NM_015046.7(SETX):c.193G>A (p.Glu65Lys)
|
rs1554825315
|
|
NM_016035.5(COQ4):c.155T>C (p.Leu52Ser)
|
rs786204770
|
|
NM_016035.5(COQ4):c.433C>G (p.Arg145Gly)
|
rs774395996
|
|
NM_016035.5(COQ4):c.518CCA[1] (p.Thr174del)
|
rs786204771
|
|
NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter)
|
rs121434403
|
|
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)
|
rs397515442
|
|
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro)
|
rs104894079
|
|
NM_020247.5(COQ8A):c.1081-1_1082dup
|
rs1057519344
|
|
NM_020247.5(COQ8A):c.1398+2T>C
|
rs606231138
|
|
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)
|
rs387906299
|
|
NM_020247.5(COQ8A):c.1813dup (p.Glu605fs)
|
rs387906298
|
|
NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp)
|
rs752130338
|
|
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs)
|
rs764847439
|
|
NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp)
|
rs119468006
|
|
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val)
|
rs119468006
|
|
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu)
|
rs80356543
|
|
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs)
|
rs80338924
|
|
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs)
|
rs80338929
|
|
NM_024577.4(SH3TC2):c.28del (p.Glu10fs)
|
rs80338918
|
|
NM_024577.4(SH3TC2):c.3341del (p.Pro1114fs)
|
rs80338936
|
|
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter)
|
rs80338937
|
|
NM_024577.4(SH3TC2):c.530-2A>G
|
rs80338920
|
|
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn)
|
rs3814290
|
|
NM_181882.3(PRX):c.2098del (p.Ala700fs)
|
rs281865062
|
|
NM_181882.3(PRX):c.247del (p.Leu83fs)
|
rs281865061
|
|
NM_182476.3(COQ6):c.1058C>A (p.Ala353Asp)
|
rs397514479
|
|
NM_182476.3(COQ6):c.1341G>A (p.Trp447Ter)
|
rs1057519351
|
|
NM_182476.3(COQ6):c.1383del (p.Ile462fs)
|
rs1057519352
|
|
NM_182476.3(COQ6):c.484C>T (p.Arg162Ter)
|
rs189840848
|
|
NM_182476.3(COQ6):c.763G>A (p.Gly255Arg)
|
rs1057519350
|
|
NM_213655.5(WNK1):c.2952del (p.Glu984fs)
|
rs137852734
|
|
NM_213655.5(WNK1):c.3276dup (p.Ser1093fs)
|
rs137852735
|
|
NM_213655.5(WNK1):c.3492dup (p.Asp1165Ter)
|
rs1951913764
|
|