NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
|
rs144169073
|
0.00061
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00039
|
NM_002303.6(LEPR):c.1835G>A (p.Arg612His)
|
rs144159890
|
0.00036
|
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
|
rs148044781
|
0.00026
|
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)
|
rs202037973
|
0.00024
|
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)
|
rs138065384
|
0.00019
|
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)
|
rs201299260
|
0.00019
|
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)
|
rs369697947
|
0.00018
|
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)
|
rs121918019
|
0.00016
|
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)
|
rs137853054
|
0.00016
|
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)
|
rs199874519
|
0.00016
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs)
|
rs886041302
|
0.00013
|
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln)
|
rs191009474
|
0.00011
|
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)
|
rs121909380
|
0.00011
|
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)
|
rs11546842
|
0.00011
|
NM_016630.7(SPG21):c.118C>T (p.Arg40Ter)
|
rs555126484
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_000388.4(CASR):c.73C>T (p.Arg25Ter)
|
rs201633414
|
0.00010
|
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)
|
rs181860632
|
0.00010
|
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr)
|
rs886043191
|
0.00009
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_022089.4(ATP13A2):c.477+2T>G
|
rs758014228
|
0.00009
|
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)
|
rs80338694
|
0.00009
|
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
|
rs149914792
|
0.00008
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile)
|
rs777685454
|
0.00006
|
NM_000414.4(HSD17B4):c.58+190T>A
|
rs1001866915
|
0.00006
|
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)
|
rs121918014
|
0.00006
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
0.00006
|
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)
|
rs121909254
|
0.00006
|
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)
|
rs371019314
|
0.00006
|
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)
|
rs121908185
|
0.00006
|
NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter)
|
rs147717802
|
0.00006
|
NM_000023.4(SGCA):c.614C>A (p.Pro205His)
|
rs757481230
|
0.00005
|
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg)
|
rs539765620
|
0.00005
|
NM_001851.6(COL9A1):c.1120G>T (p.Glu374Ter)
|
rs374843706
|
0.00005
|
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp)
|
rs549442687
|
0.00005
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)
|
rs768407867
|
0.00004
|
NM_000083.3(CLCN1):c.1167-10T>C
|
rs543120965
|
0.00004
|
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met)
|
rs749205522
|
0.00004
|
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu)
|
rs548799639
|
0.00004
|
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)
|
rs61753245
|
0.00004
|
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys)
|
rs769773673
|
0.00004
|
NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys)
|
rs760768552
|
0.00004
|
NM_000500.9(CYP21A2):c.1226G>A (p.Arg409His)
|
rs1351045983
|
0.00004
|
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)
|
rs140551719
|
0.00004
|
NM_002693.3(POLG):c.428C>T (p.Ala143Val)
|
rs796052899
|
0.00004
|
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)
|
rs104894293
|
0.00004
|
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter)
|
rs984874083
|
0.00004
|
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs)
|
rs776470487
|
0.00004
|
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)
|
rs28940869
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter)
|
rs748011724
|
0.00004
|
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)
|
rs781027702
|
0.00004
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)
|
rs80338958
|
0.00003
|
NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr)
|
rs765347751
|
0.00003
|
NM_000352.6(ABCC8):c.2921-9G>A
|
rs757171524
|
0.00003
|
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)
|
rs769279368
|
0.00003
|
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)
|
rs752199191
|
0.00003
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala)
|
rs375215281
|
0.00003
|
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)
|
rs201908721
|
0.00003
|
NM_145207.3(AFG2A):c.2T>C (p.Met1Thr)
|
rs765170329
|
0.00003
|
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)
|
rs80338778
|
0.00002
|
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)
|
rs757341933
|
0.00002
|
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu)
|
rs1026613471
|
0.00002
|
NM_000349.3(STAR):c.745-1G>C
|
rs374297649
|
0.00002
|
NM_000486.6(AQP2):c.190G>A (p.Gly64Arg)
|
rs104894326
|
0.00002
|
NM_000500.9(CYP21A2):c.922T>G (p.Leu308Val)
|
rs994764994
|
0.00002
|
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)
|
rs780837200
|
0.00002
|
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter)
|
rs201912053
|
0.00002
|
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)
|
rs376712059
|
0.00002
|
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter)
|
rs746721983
|
0.00002
|
NM_005591.4(MRE11):c.545-1G>A
|
rs1451215042
|
0.00002
|
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)
|
rs121909334
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)
|
rs794726871
|
0.00001
|
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)
|
rs398123143
|
0.00001
|
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu)
|
rs1282349760
|
0.00001
|
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys)
|
rs756981034
|
0.00001
|
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His)
|
rs780834658
|
0.00001
|
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu)
|
rs149892539
|
0.00001
|
NM_000083.3(CLCN1):c.1401+1G>T
|
rs769861892
|
0.00001
|
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val)
|
rs80356685
|
0.00001
|
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp)
|
rs746691295
|
0.00001
|
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu)
|
rs202179484
|
0.00001
|
NM_000091.5(COL4A3):c.3593G>A (p.Gly1198Asp)
|
rs755849032
|
0.00001
|
NM_000092.5(COL4A4):c.3317G>A (p.Gly1106Asp)
|
rs1559482299
|
0.00001
|
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val)
|
rs1189502123
|
0.00001
|
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg)
|
rs775926807
|
0.00001
|
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs)
|
rs1044894207
|
0.00001
|
NM_000161.3(GCH1):c.626+2dup
|
rs1474519447
|
0.00001
|
NM_000162.5(GCK):c.605T>C (p.Met202Thr)
|
rs193922311
|
0.00001
|
NM_000162.5(GCK):c.787T>C (p.Ser263Pro)
|
rs193922331
|
0.00001
|
NM_000162.5(GCK):c.952G>T (p.Gly318Trp)
|
rs193922340
|
0.00001
|
NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp)
|
rs761957837
|
0.00001
|
NM_000260.4(MYO7A):c.2187+1G>A
|
rs111033290
|
0.00001
|
NM_000260.4(MYO7A):c.6356A>G (p.Gln2119Arg)
|
rs1029122324
|
0.00001
|
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu)
|
rs121908552
|
0.00001
|
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)
|
rs137854602
|
0.00001
|
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)
|
rs193922401
|
0.00001
|
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)
|
rs769569410
|
0.00001
|
NM_000371.4(TTR):c.239C>T (p.Thr80Ile)
|
rs1254341785
|
0.00001
|
NM_000371.4(TTR):c.349G>T (p.Ala117Ser)
|
rs267607161
|
0.00001
|
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs)
|
rs763695515
|
0.00001
|
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp)
|
rs751217000
|
0.00001
|
NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)
|
rs193922423
|
0.00001
|
NM_000388.4(CASR):c.2039G>A (p.Arg680His)
|
rs773146939
|
0.00001
|
NM_000388.4(CASR):c.206G>A (p.Arg69His)
|
rs193922432
|
0.00001
|
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)
|
rs1060502856
|
0.00001
|
NM_000388.4(CASR):c.427G>A (p.Gly143Arg)
|
rs769256610
|
0.00001
|
NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe)
|
rs367855127
|
0.00001
|
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)
|
rs763159520
|
0.00001
|
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)
|
rs779103938
|
0.00001
|
NM_000500.9(CYP21A2):c.919T>G (p.Phe307Val)
|
rs746303150
|
0.00001
|
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys)
|
rs954727530
|
0.00001
|
NM_000525.4(KCNJ11):c.160C>T (p.Arg54Cys)
|
rs375848765
|
0.00001
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099
|
0.00001
|
NM_000530.8(MPZ):c.385G>A (p.Val129Ile)
|
rs201156403
|
0.00001
|
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)
|
rs572010627
|
0.00001
|
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)
|
rs756870293
|
0.00001
|
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)
|
rs749673816
|
0.00001
|
NM_001008212.2(OPTN):c.1149-2A>G
|
rs867368757
|
0.00001
|
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)
|
rs119462987
|
0.00001
|
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln)
|
rs369360334
|
0.00001
|
NM_001127222.2(CACNA1A):c.2105-2A>G
|
rs906086634
|
0.00001
|
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys)
|
rs121908243
|
0.00001
|
NM_001130987.2(DYSF):c.1276+5G>A
|
rs766433603
|
0.00001
|
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)
|
rs758993965
|
0.00001
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
NM_001195248.2(APTX):c.593C>T (p.Ala198Val)
|
rs748165574
|
0.00001
|
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter)
|
rs772235481
|
0.00001
|
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)
|
rs121909765
|
0.00001
|
NM_001377265.1(MAPT):c.2091+19C>G
|
rs63750162
|
0.00001
|
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg)
|
rs63750512
|
0.00001
|
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter)
|
rs863225023
|
0.00001
|
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp)
|
rs567124920
|
0.00001
|
NM_002087.4(GRN):c.1010_1011del (p.Gln337fs)
|
rs1598364961
|
0.00001
|
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg)
|
rs142347031
|
0.00001
|
NM_002739.5(PRKCG):c.1764+1G>T
|
rs1406338491
|
0.00001
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
NM_003119.4(SPG7):c.376+1G>T
|
rs746053679
|
0.00001
|
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln)
|
rs912983346
|
0.00001
|
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)
|
rs727504302
|
0.00001
|
NM_004320.6(ATP2A1):c.2758C>T (p.Gln920Ter)
|
rs897301304
|
0.00001
|
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala)
|
rs886043576
|
0.00001
|
NM_004562.3(PRKN):c.1244C>A (p.Thr415Asn)
|
rs778125254
|
0.00001
|
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs)
|
rs1599845714
|
0.00001
|
NM_006796.3(AFG3L2):c.202C>T (p.Arg68Ter)
|
rs543422544
|
0.00001
|
NM_014231.5(VAMP1):c.315T>A (p.Cys105Ter)
|
rs1237437677
|
0.00001
|
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
|
rs994374354
|
0.00001
|
NM_014625.4(NPHS2):c.979C>T (p.Leu327Phe)
|
rs748203170
|
0.00001
|
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)
|
rs745790694
|
0.00001
|
NM_014855.3(AP5Z1):c.721C>T (p.Gln241Ter)
|
rs751778396
|
0.00001
|
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)
|
rs121434380
|
0.00001
|
NM_018075.5(ANO10):c.1797+1G>A
|
rs1206950481
|
0.00001
|
NM_018075.5(ANO10):c.2T>C (p.Met1Thr)
|
rs531656357
|
0.00001
|
NM_018075.5(ANO10):c.473-2A>T
|
rs1553724533
|
0.00001
|
NM_018319.4(TDP1):c.2T>G (p.Met1Arg)
|
rs1376503364
|
0.00001
|
NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs)
|
rs863224183
|
0.00001
|
NM_024570.4(RNASEH2B):c.698+1G>A
|
rs367915667
|
0.00001
|
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)
|
rs759785462
|
0.00001
|
NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter)
|
rs1754425732
|
0.00001
|
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp)
|
rs1131691924
|
0.00001
|
NM_033380.3(COL4A5):c.1340-1G>A
|
rs753437190
|
0.00001
|
NM_145207.3(AFG2A):c.446+1G>A
|
rs1166181741
|
0.00001
|
NM_170707.4(LMNA):c.832G>A (p.Ala278Thr)
|
rs1553265433
|
0.00001
|
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile)
|
rs377476335
|
0.00001
|
NM_182961.4(SYNE1):c.310-489G>T
|
rs1564555089
|
0.00001
|
NM_213599.3(ANO5):c.2470del (p.Gln824fs)
|
rs770694933
|
0.00001
|
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)
|
rs63751223
|
|
NM_000021.4(PSEN1):c.1306C>T (p.Pro436Ser)
|
rs63749925
|
|
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)
|
rs63751399
|
|
NM_000021.4(PSEN1):c.358G>A (p.Glu120Lys)
|
rs63750800
|
|
NM_000021.4(PSEN1):c.403A>T (p.Asn135Tyr)
|
rs63750353
|
|
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser)
|
rs63751278
|
|
NM_000021.4(PSEN1):c.496C>T (p.Leu166Phe)
|
|
|
NM_000021.4(PSEN1):c.519G>T (p.Leu173Phe)
|
|
|
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr)
|
rs1555355250
|
|
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)
|
rs63749836
|
|
NM_000021.4(PSEN1):c.714C>G (p.Ile238Met)
|
rs1555355289
|
|
NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu)
|
rs1362575880
|
|
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe)
|
rs63750248
|
|
NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser)
|
rs63751229
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)
|
rs128624220
|
|
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1970_1972del (p.Ile657del)
|
rs2148399308
|
|
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)
|
rs1569540693
|
|
NM_000033.4(ABCD1):c.498_520del (p.Val167fs)
|
rs398123112
|
|
NM_000051.4(ATM):c.1249del (p.Thr417fs)
|
rs786203166
|
|
NM_000051.4(ATM):c.2922-50_2940del
|
rs1555084832
|
|
NM_000051.4(ATM):c.6745del (p.Asp2249fs)
|
|
|
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs)
|
rs786203421
|
|
NM_000051.4(ATM):c.7926A>T (p.Arg2642Ser)
|
|
|
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)
|
rs1555138291
|
|
NM_000051.4(ATM):c.8871_8872del (p.Leu2957_Phe2958insTer)
|
rs2091200503
|
|
NM_000054.7(AVPR2):c.770del (p.Gly257fs)
|
rs193922119
|
|
NM_000054.7(AVPR2):c.965C>T (p.Pro322Leu)
|
|
|
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe)
|
rs794727318
|
|
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)
|
rs868791726
|
|
NM_000070.3(CAPN3):c.2440-2A>G
|
rs769688710
|
|
NM_000080.4(CHRNE):c.529_531del (p.Glu177del)
|
rs779816027
|
|
NM_000080.4(CHRNE):c.684_687del (p.Asp229fs)
|
rs1597619440
|
|
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)
|
rs759226183
|
|
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp)
|
rs121909515
|
|
NM_000083.2(CLCN1):c.698delG
|
rs1423567292
|
|
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg)
|
rs1027814542
|
|
NM_000083.3(CLCN1):c.1616_1617del (p.Thr539fs)
|
rs1554438432
|
|
NM_000083.3(CLCN1):c.2416GAGCAG[3] (p.Gln809_Leu810insGluGln)
|
|
|
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter)
|
rs1586484463
|
|
NM_000083.3(CLCN1):c.434-2_434dup
|
rs753470655
|
|
NM_000083.3(CLCN1):c.563G>C (p.Gly188Ala)
|
rs1554434857
|
|
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg)
|
rs369773321
|
|
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro)
|
rs1347382107
|
|
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser)
|
rs139039122
|
|
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly)
|
rs1180658535
|
|
NM_000088.4(COL1A1):c.1013G>T (p.Gly338Val)
|
rs1555574249
|
|
NM_000088.4(COL1A1):c.1037del (p.Pro346fs)
|
rs1598297682
|
|
NM_000088.4(COL1A1):c.1884del (p.Gly629fs)
|
rs1598293710
|
|
NM_000088.4(COL1A1):c.256del (p.Val86fs)
|
rs1567764772
|
|
NM_000088.4(COL1A1):c.4067G>T (p.Arg1356Leu)
|
rs149820303
|
|
NM_000088.4(COL1A1):c.677del (p.Pro226fs)
|
rs1598299754
|
|
NM_000089.4(COL1A2):c.3987del (p.Ile1329fs)
|
rs1200377228
|
|
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg)
|
rs1559878824
|
|
NM_000091.5(COL4A3):c.1643G>T (p.Gly548Val)
|
rs2125991176
|
|
NM_000091.5(COL4A3):c.1928-1G>A
|
rs1364800683
|
|
NM_000091.5(COL4A3):c.1933del (p.Arg645fs)
|
rs1559890140
|
|
NM_000091.5(COL4A3):c.2489-1G>A
|
rs1574782406
|
|
NM_000091.5(COL4A3):c.2593G>A (p.Gly865Ser)
|
rs1559897190
|
|
NM_000091.5(COL4A3):c.547-1G>T
|
rs1240347743
|
|
NM_000091.5(COL4A3):c.997G>A (p.Gly333Arg)
|
rs761819520
|
|
NM_000092.4(COL4A4):c.2100_2102delinsGTGT (p.Ser700fs)
|
rs1553644383
|
|
NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs)
|
rs1575895541
|
|
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter)
|
rs534522842
|
|
NM_000092.5(COL4A4):c.1697-1G>A
|
rs1559569975
|
|
NM_000092.5(COL4A4):c.2039G>A (p.Gly680Asp)
|
rs1553646081
|
|
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val)
|
rs1576189036
|
|
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys)
|
rs1158350974
|
|
NM_000092.5(COL4A4):c.3842dup (p.Gly1282fs)
|
rs1575895799
|
|
NM_000092.5(COL4A4):c.482G>T (p.Gly161Val)
|
rs745672795
|
|
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter)
|
rs1408907127
|
|
NM_000092.5(COL4A4):c.737G>A (p.Gly246Asp)
|
rs1559631986
|
|
NM_000092.5(COL4A4):c.871-1G>C
|
rs375450996
|
|
NM_000117.3(EMD):c.682C>T (p.Gln228Ter)
|
|
|
NM_000144.5(FXN):c.165+2_165+3insTT
|
rs1564326640
|
|
NM_000144.5(FXN):c.385-1G>C
|
rs1554761915
|
|
NM_000144.5(FXN):c.483-2A>G
|
rs1554762735
|
|
NM_000144.5(FXN):c.498T>G (p.Tyr166Ter)
|
rs1587832283
|
|
NM_000161.3(GCH1):c.13_19del (p.Pro5fs)
|
rs1555362905
|
|
NM_000161.3(GCH1):c.248dup (p.Glu84fs)
|
rs1595031221
|
|
NM_000161.3(GCH1):c.557C>T (p.Thr186Ile)
|
|
|
NM_000162.5(GCK):c.1020-10C>A
|
rs193922257
|
|
NM_000162.5(GCK):c.1099G>A (p.Val367Met)
|
rs1057521092
|
|
NM_000162.5(GCK):c.1113C>G (p.Cys371Trp)
|
rs556581174
|
|
NM_000162.5(GCK):c.1136C>T (p.Ala379Val)
|
rs193922265
|
|
NM_000162.5(GCK):c.1146C>A (p.Cys382Ter)
|
rs1583591809
|
|
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu)
|
rs777870079
|
|
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro)
|
rs193922268
|
|
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu)
|
rs193929375
|
|
NM_000162.5(GCK):c.127C>A (p.Arg43Ser)
|
rs1486280029
|
|
NM_000162.5(GCK):c.128G>C (p.Arg43Pro)
|
rs764232985
|
|
NM_000162.5(GCK):c.131G>A (p.Gly44Asp)
|
rs193922279
|
|
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly)
|
rs193922281
|
|
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)
|
rs193922283
|
|
NM_000162.5(GCK):c.1360del (p.Ala454fs)
|
rs1583590393
|
|
NM_000162.5(GCK):c.185T>C (p.Val62Ala)
|
rs1444739794
|
|
NM_000162.5(GCK):c.322T>C (p.Tyr108His)
|
rs193922292
|
|
NM_000162.5(GCK):c.364C>A (p.Leu122Ile)
|
rs1554335616
|
|
NM_000162.5(GCK):c.478G>A (p.Asp160Asn)
|
rs1554335566
|
|
NM_000162.5(GCK):c.491T>C (p.Leu164Pro)
|
rs2096278847
|
|
NM_000162.5(GCK):c.540T>G (p.Asn180Lys)
|
rs1554335444
|
|
NM_000162.5(GCK):c.572G>A (p.Arg191Gln)
|
rs886042610
|
|
NM_000162.5(GCK):c.610A>G (p.Asn204Asp)
|
rs2128821512
|
|
NM_000162.5(GCK):c.666del (p.Gly223fs)
|
rs2096278285
|
|
NM_000162.5(GCK):c.682A>G (p.Thr228Ala)
|
rs1332966015
|
|
NM_000162.5(GCK):c.737G>A (p.Gly246Glu)
|
rs1583596522
|
|
NM_000162.5(GCK):c.748C>T (p.Arg250Cys)
|
rs1057524904
|
|
NM_000162.5(GCK):c.819T>A (p.Tyr273Ter)
|
rs1562715296
|
|
NM_000162.5(GCK):c.848del (p.Asn283fs)
|
rs1583596119
|
|
NM_000162.5(GCK):c.884G>A (p.Gly295Asp)
|
rs2096273902
|
|
NM_000162.5(GCK):c.907C>T (p.Arg303Trp)
|
rs193922336
|
|
NM_000162.5(GCK):c.908G>T (p.Arg303Leu)
|
rs1312678560
|
|
NM_000162.5(GCK):c.911T>C (p.Leu304Pro)
|
rs1554334894
|
|
NM_000162.5(GCK):c.964G>T (p.Glu322Ter)
|
|
|
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu)
|
rs876661269
|
|
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)
|
rs104894824
|
|
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg)
|
rs1555937077
|
|
NM_000166.6(GJB1):c.44G>C (p.Arg15Pro)
|
|
|
NM_000166.6(GJB1):c.478T>C (p.Tyr160His)
|
rs1555937197
|
|
NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys)
|
rs1602349451
|
|
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu)
|
rs771022595
|
|
NM_000166.6(GJB1):c.541G>C (p.Val181Leu)
|
rs879253909
|
|
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)
|
rs863224471
|
|
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu)
|
rs1555937244
|
|
NM_000166.6(GJB1):c.602del (p.Cys201fs)
|
rs1569215424
|
|
NM_000166.6(GJB1):c.842dup (p.Ala282fs)
|
rs1569215591
|
|
NM_000170.3(GLDC):c.2607dup (p.Phe870fs)
|
rs1554642300
|
|
NM_000183.3(HADHB):c.1301G>T (p.Gly434Val)
|
|
|
NM_000209.4(PDX1):c.683_699del (p.Ala228fs)
|
rs1566025668
|
|
NM_000217.3(KCNA1):c.913C>T (p.Leu305Phe)
|
rs1555085761
|
|
NM_000217.3(KCNA1):c.941T>C (p.Ile314Thr)
|
rs1085308020
|
|
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
|
|
|
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs)
|
rs398123303
|
|
NM_000297.4(PKD2):c.1929dup (p.Ile644fs)
|
rs1720428157
|
|
NM_000304.4(PMP22):c.138del (p.Ser47fs)
|
rs864622180
|
|
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)
|
rs104894623
|
|
NM_000304.4(PMP22):c.228C>G (p.Ser76Arg)
|
rs1555565283
|
|
NM_000304.4(PMP22):c.431C>G (p.Pro144Arg)
|
rs1555564032
|
|
NM_000334.4(SCN4A):c.1173del (p.Phe392fs)
|
rs1235665641
|
|
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)
|
rs1057518865
|
|
NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val)
|
rs750053946
|
|
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu)
|
rs1555601448
|
|
NM_000334.4(SCN4A):c.3929T>A (p.Ile1310Asn)
|
rs1567817380
|
|
NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val)
|
rs80338960
|
|
NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe)
|
rs1199222144
|
|
NM_000334.4(SCN4A):c.4426A>G (p.Met1476Val)
|
rs1567816461
|
|
NM_000334.4(SCN4A):c.4897C>G (p.Gln1633Glu)
|
rs2144773878
|
|
NM_000338.3(SLC12A1):c.2869dup (p.Ile957fs)
|
rs764247288
|
|
NM_000338.3(SLC12A1):c.2978del (p.Glu993fs)
|
rs1566861493
|
|
NM_000344.4(SMN1):c.109dup (p.Thr37fs)
|
rs1561499582
|
|
NM_000344.4(SMN1):c.135dup (p.Ala46fs)
|
rs1554081951
|
|
NM_000344.4(SMN1):c.460C>T (p.Gln154Ter)
|
rs1561499692
|
|
NM_000344.4(SMN1):c.584del (p.Pro195fs)
|
rs1561499748
|
|
NM_000344.4(SMN1):c.630del (p.Gly211fs)
|
|
|
NM_000344.4(SMN1):c.93_96dup (p.Ile33Ter)
|
rs1554081950
|
|
NM_000346.4(SOX9):c.327G>T (p.Met109Ile)
|
|
|
NM_000352.6(ABCC8):c.2146G>A (p.Gly716Ser)
|
rs1591794677
|
|
NM_000352.6(ABCC8):c.3872_3873dup (p.Asn1292fs)
|
rs1953988179
|
|
NM_000368.5(TSC1):c.1125dup (p.Val376fs)
|
rs1554817227
|
|
NM_000368.5(TSC1):c.1569_1570delinsGTGAA (p.Ser524Ter)
|
rs2131841336
|
|
NM_000368.5(TSC1):c.211-7T>G
|
rs1554820321
|
|
NM_000368.5(TSC1):c.456del (p.Asp153fs)
|
rs1554819896
|
|
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser)
|
rs118203385
|
|
NM_000370.3(TTPA):c.173C>A (p.Ala58Asp)
|
rs1805742556
|
|
NM_000371.4(TTR):c.165G>T (p.Lys55Asn)
|
rs1567945684
|
|
NM_000371.4(TTR):c.193G>A (p.Ala65Thr)
|
rs121918078
|
|
NM_000371.4(TTR):c.221A>G (p.Glu74Gly)
|
rs1598845097
|
|
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys)
|
rs1576859379
|
|
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr)
|
rs1576875819
|
|
NM_000388.4(CASR):c.1913dup (p.Asn639fs)
|
rs1576877163
|
|
NM_000388.4(CASR):c.2042A>G (p.Gln681Arg)
|
rs2107649847
|
|
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)
|
rs193922433
|
|
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)
|
rs1057518933
|
|
NM_000388.4(CASR):c.2454G>A (p.Trp818Ter)
|
rs1576878011
|
|
NM_000388.4(CASR):c.372C>A (p.Asn124Lys)
|
rs757571398
|
|
NM_000388.4(CASR):c.518T>C (p.Leu173Pro)
|
rs2107631736
|
|
NM_000388.4(CASR):c.61G>A (p.Gly21Arg)
|
rs1064794290
|
|
NM_000388.4(CASR):c.707G>T (p.Cys236Phe)
|
rs1057518616
|
|
NM_000388.4(CASR):c.823_824del (p.Asp275fs)
|
rs1553766794
|
|
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter)
|
rs2126696915
|
|
NM_000435.3(NOTCH3):c.1216G>T (p.Gly406Cys)
|
rs2046907944
|
|
NM_000435.3(NOTCH3):c.1305T>G (p.Cys435Trp)
|
rs2046907170
|
|
NM_000435.3(NOTCH3):c.1547G>A (p.Cys516Tyr)
|
rs2046897026
|
|
NM_000435.3(NOTCH3):c.1823G>A (p.Cys608Tyr)
|
rs778350156
|
|
NM_000435.3(NOTCH3):c.2956T>G (p.Cys986Gly)
|
rs763321998
|
|
NM_000435.3(NOTCH3):c.316T>A (p.Cys106Ser)
|
|
|
NM_000435.3(NOTCH3):c.351C>G (p.Cys117Trp)
|
rs200881673
|
|
NM_000435.3(NOTCH3):c.3571T>C (p.Cys1191Arg)
|
|
|
NM_000435.3(NOTCH3):c.3783C>G (p.Cys1261Trp)
|
|
|
NM_000435.3(NOTCH3):c.383G>T (p.Cys128Phe)
|
rs1568362039
|
|
NM_000435.3(NOTCH3):c.430T>C (p.Cys144Arg)
|
rs2046934287
|
|
NM_000435.3(NOTCH3):c.437G>T (p.Cys146Phe)
|
rs1236699193
|
|
NM_000435.3(NOTCH3):c.485G>T (p.Cys162Phe)
|
rs2145441996
|
|
NM_000435.3(NOTCH3):c.512_605delinsA (p.Gly171_Ala202delinsGlu)
|
rs2046931882
|
|
NM_000435.3(NOTCH3):c.798G>T (p.Trp266Cys)
|
rs2046928465
|
|
NM_000435.3(NOTCH3):c.954T>G (p.Cys318Trp)
|
rs2145439818
|
|
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro)
|
rs63749851
|
|
NM_000454.5(SOD1):c.229G>T (p.Asp77Tyr)
|
rs1601157750
|
|
NM_000454.5(SOD1):c.443G>A (p.Gly148Asp)
|
rs1555836950
|
|
NM_000454.5(SOD1):c.50G>C (p.Gly17Ala)
|
rs1200906022
|
|
NM_000458.4(HNF1B):c.766C>T (p.Pro256Ser)
|
|
|
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
|
|
|
NM_000475.5(NR0B1):c.542_557del (p.Pro181fs)
|
rs1569268919
|
|
NM_000478.6(ALPL):c.522del (p.Ser175fs)
|
rs750174638
|
|
NM_000484.4(APP):c.2032G>C (p.Asp678His)
|
rs63750064
|
|
NM_000484.4(APP):c.2143G>A (p.Val715Met)
|
rs63750734
|
|
NM_000486.6(AQP2):c.97_119del (p.Asn33fs)
|
rs772201159
|
|
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)
|
rs753774484
|
|
NM_000497.4(CYP11B1):c.96del (p.Arg33fs)
|
rs768007725
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_000500.9(CYP21A2):c.341C>T (p.Ser114Phe)
|
|
|
NM_000500.9(CYP21A2):c.397C>T (p.Arg133Cys)
|
|
|
NM_000500.9(CYP21A2):c.448C>T (p.Arg150Cys)
|
|
|
NM_000525.4(KCNJ11):c.532del (p.Ala178fs)
|
rs1554901775
|
|
NM_000525.4(KCNJ11):c.774C>A (p.Tyr258Ter)
|
rs1564865232
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)
|
rs879254535
|
|
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu)
|
rs879254297
|
|
NM_000530.8(MPZ):c.200_201del (p.Arg67fs)
|
rs1670284480
|
|
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp)
|
rs121913601
|
|
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu)
|
rs1060503418
|
|
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn)
|
rs1553259647
|
|
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser)
|
rs121913588
|
|
NM_000530.8(MPZ):c.410G>T (p.Gly137Val)
|
rs863225025
|
|
NM_000530.8(MPZ):c.448+1G>T
|
rs1407955132
|
|
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)
|
rs755446743
|
|
NM_000530.8(MPZ):c.88A>G (p.Ile30Val)
|
rs1386345719
|
|
NM_000532.5(PCCB):c.605G>C (p.Gly202Ala)
|
|
|
NM_000533.5(PLP1):c.789C>A (p.Tyr263Ter)
|
rs1556273075
|
|
NM_000540.3(RYR1):c.12094+2T>C
|
|
|
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.150C>A (p.Cys50Ter)
|
|
|
NM_000545.8(HNF1A):c.1531C>T (p.Gln511Ter)
|
rs551484245
|
|
NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile)
|
rs2135854451
|
|
NM_000545.8(HNF1A):c.392G>T (p.Arg131Leu)
|
rs753998395
|
|
NM_000545.8(HNF1A):c.494G>A (p.Trp165Ter)
|
rs1555211436
|
|
NM_000545.8(HNF1A):c.586del (p.Thr196fs)
|
rs1565885524
|
|
NM_000545.8(HNF1A):c.654T>A (p.Tyr218Ter)
|
|
|
NM_000545.8(HNF1A):c.704A>G (p.Glu235Gly)
|
rs1593058338
|
|
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)
|
rs1288094664
|
|
NM_000545.8(HNF1A):c.956-1G>A
|
rs1565886545
|
|
NM_000548.5(TSC2):c.1840-2A>C
|
rs45517205
|
|
NM_000548.5(TSC2):c.3089T>G (p.Met1030Arg)
|
rs1567496821
|
|
NM_000548.5(TSC2):c.3164del (p.Gly1055fs)
|
rs1555510519
|
|
NM_000548.5(TSC2):c.3783del (p.Lys1262fs)
|
rs1555512548
|
|
NM_000548.5(TSC2):c.4006-1G>C
|
rs1085307853
|
|
NM_000548.5(TSC2):c.4030_4038delinsT (p.Glu1344fs)
|
|
|
NM_000548.5(TSC2):c.4569+1G>A
|
rs1060500972
|
|
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro)
|
rs45517362
|
|
NM_000548.5(TSC2):c.478C>G (p.Leu160Val)
|
rs45517109
|
|
NM_000548.5(TSC2):c.4938_4946del (p.Ser1647_Val1649del)
|
rs1555438624
|
|
NM_000548.5(TSC2):c.5012T>A (p.Val1671Glu)
|
rs2151611996
|
|
NM_000548.5(TSC2):c.5234_5238del (p.Arg1745fs)
|
rs137854002
|
|
NM_000702.4(ATP1A2):c.117+1G>A
|
rs1553244022
|
|
NM_000702.4(ATP1A2):c.2698G>A (p.Gly900Arg)
|
rs1553245908
|
|
NM_000702.4(ATP1A2):c.3005G>A (p.Arg1002Gln)
|
rs757310141
|
|
NM_001005361.3(DNM2):c.1070C>T (p.Ser357Phe)
|
rs1064793101
|
|
NM_001009944.3(PKD1):c.10259G>A (p.Trp3420Ter)
|
rs2151727019
|
|
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser)
|
rs1303102528
|
|
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp)
|
rs1555445740
|
|
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter)
|
rs1596481464
|
|
NM_001009944.3(PKD1):c.11570dup (p.Tyr3857Ter)
|
rs1555445579
|
|
NM_001009944.3(PKD1):c.12003+14_12003+33del
|
rs1567148835
|
|
NM_001009944.3(PKD1):c.12139-1G>T
|
rs1596474257
|
|
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met)
|
rs2855341
|
|
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg)
|
rs58598099
|
|
NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter)
|
rs775710328
|
|
NM_001009944.3(PKD1):c.2548_2557del (p.Asp850fs)
|
rs1596575921
|
|
NM_001009944.3(PKD1):c.2804_2829del (p.Leu935fs)
|
rs1567209616
|
|
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)
|
rs1567202750
|
|
NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs)
|
rs1555456208
|
|
NM_001009944.3(PKD1):c.4894_4901dup (p.Gly1634_Leu1635insTer)
|
rs1567198410
|
|
NM_001009944.3(PKD1):c.4898del (p.Glu1633fs)
|
|
|
NM_001009944.3(PKD1):c.5245del (p.Val1749fs)
|
rs1555455279
|
|
NM_001009944.3(PKD1):c.5913delinsACC (p.Ser1972fs)
|
rs1567194928
|
|
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp)
|
rs151257298
|
|
NM_001009944.3(PKD1):c.7483T>C (p.Cys2495Arg)
|
rs2092338268
|
|
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)
|
rs797044902
|
|
NM_001009944.3(PKD1):c.789_843del (p.Leu264fs)
|
rs1596590005
|
|
NM_001009944.3(PKD1):c.8049C>A (p.Cys2683Ter)
|
rs377029031
|
|
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro)
|
rs1567177684
|
|
NM_001009944.3(PKD1):c.8483T>C (p.Leu2828Pro)
|
rs1555451143
|
|
NM_001009944.3(PKD1):c.8545del (p.Ala2849fs)
|
rs1555451093
|
|
NM_001009944.3(PKD1):c.8978T>C (p.Leu2993Pro)
|
rs1555450487
|
|
NM_001009944.3(PKD1):c.9033C>G (p.Tyr3011Ter)
|
rs1408935894
|
|
NM_001039.4(SCNN1G):c.1697G>A (p.Trp566Ter)
|
rs1596779485
|
|
NM_001040142.2(SCN2A):c.2939C>G (p.Ala980Gly)
|
rs1700069190
|
|
NM_001040142.2(SCN2A):c.4907T>C (p.Ile1636Thr)
|
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
NM_001042492.3(NF1):c.3851del (p.Ile1284fs)
|
|
|
NM_001042492.3(NF1):c.6147+2T>C
|
rs1555534621
|
|
NM_001042492.3(NF1):c.7190-1G>C
|
|
|
NM_001042492.3(NF1):c.7647del (p.Asp2550fs)
|
rs1597865773
|
|
NM_001042492.3(NF1):c.7949_7950del (p.Phe2650fs)
|
rs2070298779
|
|
NM_001077365.2(POMT1):c.574_575del (p.Leu192fs)
|
rs1554773974
|
|
NM_001077365.2(POMT1):c.699+67del
|
rs1588377489
|
|
NM_001079668.3(NKX2-1):c.733A>T (p.Lys245Ter)
|
|
|
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)
|
rs537001725
|
|
NM_001110556.2(FLNA):c.1027_1028del (p.Ser343fs)
|
rs1557179349
|
|
NM_001111125.3(IQSEC2):c.2749+2T>C
|
rs1602277471
|
|
NM_001126108.2(SLC12A3):c.1261T>G (p.Cys421Gly)
|
rs28936387
|
|
NM_001126108.2(SLC12A3):c.602-1G>A
|
rs2055071377
|
|
NM_001127222.2(CACNA1A):c.104del (p.Gly35fs)
|
rs1568720031
|
|
NM_001127222.2(CACNA1A):c.2896del (p.Glu966fs)
|
|
|
NM_001127222.2(CACNA1A):c.3261_3316del (p.Leu1090fs)
|
rs1555752975
|
|
NM_001127222.2(CACNA1A):c.399+1G>C
|
rs2060983144
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp)
|
rs121908220
|
|
NM_001127222.2(CACNA1A):c.5125G>A (p.Gly1709Arg)
|
rs1555738200
|
|
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp)
|
rs1568446845
|
|
NM_001127222.2(CACNA1A):c.6408_6409insTAGCCTG (p.Asp2137Ter)
|
rs2054719760
|
|
NM_001127644.2(GABRA1):c.857-2A>G
|
rs1313965409
|
|
NM_001130987.2(DYSF):c.1033+4A>T
|
rs1397221551
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs)
|
rs779407815
|
|
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)
|
rs863225021
|
|
NM_001130987.2(DYSF):c.5547-1G>C
|
rs1573094617
|
|
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter)
|
rs1259297878
|
|
NM_001165963.4(SCN1A):c.1170+4A>G
|
rs1697995660
|
|
NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu)
|
rs794726766
|
|
NM_001165963.4(SCN1A):c.2369del (p.Tyr790fs)
|
|
|
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)
|
rs121918785
|
|
NM_001165963.4(SCN1A):c.4476+6T>G
|
rs1057523807
|
|
NM_001165963.4(SCN1A):c.4871T>C (p.Leu1624Pro)
|
rs1689377026
|
|
NM_001166114.2(PNPLA6):c.3882del (p.Thr1295fs)
|
|
|
NM_001184880.2(PCDH19):c.2289-2A>G
|
rs1928233784
|
|
NM_001184880.2(PCDH19):c.697G>T (p.Asp233Tyr)
|
rs1555985482
|
|
NM_001195248.2(APTX):c.506_507insCTGG (p.Gln169fs)
|
rs1587449274
|
|
NM_001195248.2(APTX):c.686del (p.Thr229fs)
|
rs1587435802
|
|
NM_001243133.2(NLRP3):c.1322A>G (p.Tyr441Cys)
|
|
|
NM_001244710.2(GFPT1):c.1205_1206insGCGTC (p.Gln404fs)
|
rs1574051096
|
|
NM_001267550.2(TTN):c.106375-2A>G
|
rs1553482872
|
|
NM_001267550.2(TTN):c.31927+1G>T
|
rs1553852989
|
|
NM_001267550.2(TTN):c.33535del (p.Glu11179fs)
|
|
|
NM_001267550.2(TTN):c.634C>T (p.Gln212Ter)
|
rs1554042042
|
|
NM_001292063.2(OTOG):c.3409-2A>G
|
rs934194113
|
|
NM_001292063.2(OTOG):c.499del (p.Val167fs)
|
rs876657657
|
|
NM_001365536.1(SCN9A):c.611_612dup (p.Val205fs)
|
rs1574903287
|
|
NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu)
|
rs1114167469
|
|
NM_001370298.3(FGD4):c.2298_2302dup (p.Gly768fs)
|
rs751035912
|
|
NM_001378452.1(ITPR1):c.1744del (p.Gln582fs)
|
rs2125201760
|
|
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr)
|
rs1553758021
|
|
NM_001378452.1(ITPR1):c.800C>G (p.Thr267Arg)
|
rs797044955
|
|
NM_001378969.1(KCND3):c.1094T>C (p.Met365Thr)
|
|
|
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser)
|
rs1664632655
|
|
NM_001379500.1(COL18A1):c.1593del (p.Pro534fs)
|
rs778909108
|
|
NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter)
|
rs1563006133
|
|
NM_001540.5(HSPB1):c.416C>T (p.Thr139Met)
|
rs1064795077
|
|
NM_001540.5(HSPB1):c.560C>T (p.Ser187Leu)
|
rs774585320
|
|
NM_001845.6(COL4A1):c.1040G>T (p.Gly347Val)
|
rs1566370178
|
|
NM_001845.6(COL4A1):c.3236G>A (p.Gly1079Glu)
|
rs1566349968
|
|
NM_001845.6(COL4A1):c.3480del (p.Ser1161fs)
|
|
|
NM_001849.4(COL6A2):c.2646del (p.Phe882fs)
|
rs1555877282
|
|
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del)
|
rs58687088
|
|
NM_001927.4(DES):c.1346A>C (p.Lys449Thr)
|
rs267607485
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_001927.4(DES):c.5G>T (p.Ser2Ile)
|
rs58999456
|
|
NM_002055.5(GFAP):c.1171+472G>A
|
rs748860341
|
|
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln)
|
rs797044569
|
|
NM_002087.4(GRN):c.6G>A (p.Trp2Ter)
|
rs1555610855
|
|
NM_002087.4(GRN):c.708+6_708+9del
|
rs778599933
|
|
NM_002087.4(GRN):c.745C>T (p.Gln249Ter)
|
rs1598364358
|
|
NM_002292.4(LAMB2):c.1599-1G>T
|
rs1330915067
|
|
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter)
|
rs774833271
|
|
NM_002693.3(POLG):c.160C>T (p.Gln54Ter)
|
rs774768199
|
|
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)
|
|
|
NM_002693.3(POLG):c.2215_2216insG (p.Tyr739Ter)
|
|
|
NM_002693.3(POLG):c.3528_3531del (p.Val1177fs)
|
rs1596348547
|
|
NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly)
|
rs121918517
|
|
NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe)
|
rs386134163
|
|
NM_002739.5(PRKCG):c.401_402delinsTT (p.Cys134Phe)
|
rs2068659442
|
|
NM_003072.5(SMARCA4):c.2463G>C (p.Glu821Asp)
|
|
|
NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)
|
|
|
NM_003119.4(SPG7):c.69G>A (p.Trp23Ter)
|
|
|
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup)
|
rs757679761
|
|
NM_003361.4(UMOD):c.230G>C (p.Cys77Ser)
|
rs121917768
|
|
NM_003850.3(SUCLA2):c.308C>A (p.Ala103Asp)
|
rs1566091706
|
|
NM_003896.4(ST3GAL5):c.124del (p.Cys42fs)
|
rs777319882
|
|
NM_003919.3(SGCE):c.463G>A (p.Asp155Asn)
|
|
|
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro)
|
rs1064794321
|
|
NM_004004.6(GJB2):c.187G>T (p.Val63Leu)
|
rs370696868
|
|
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe)
|
rs104894406
|
|
NM_004006.3(DMD):c.1304_1331+10del
|
rs1556875089
|
|
NM_004006.3(DMD):c.3276+1G>C
|
rs398123934
|
|
NM_004006.3(DMD):c.5586+1G>A
|
rs1557292599
|
|
NM_004006.3(DMD):c.93+2T>A
|
rs1602765856
|
|
NM_004320.6(ATP2A1):c.2011C>T (p.Arg671Ter)
|
rs1555516994
|
|
NM_004320.6(ATP2A1):c.2311G>T (p.Glu771Ter)
|
rs972494690
|
|
NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs)
|
rs751365374
|
|
NM_004415.4(DSP):c.3924_3925del (p.His1309fs)
|
|
|
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys)
|
rs121434443
|
|
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)
|
rs121434442
|
|
NM_005251.3(FOXC2):c.443_449dup (p.Asp151fs)
|
|
|
NM_005529.7(HSPG2):c.1219dup (p.Gln407fs)
|
rs763945561
|
|
NM_005591.4(MRE11):c.295_298del (p.Val99fs)
|
rs1555017184
|
|
NM_005591.4(MRE11):c.314+2T>C
|
rs1591718826
|
|
NM_005619.5(RTN2):c.1497+2T>C
|
rs1421302939
|
|
NM_005629.4(SLC6A8):c.946dup (p.Ser316fs)
|
rs1569539358
|
|
NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys)
|
rs587777880
|
|
NM_006158.5(NEFL):c.865G>T (p.Glu289Ter)
|
rs1586128143
|
|
NM_006496.4(GNAI3):c.119G>T (p.Gly40Val)
|
|
|
NM_006767.4(LZTR1):c.628dup (p.Arg210fs)
|
rs1457594219
|
|
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe)
|
rs121908461
|
|
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)
|
rs151344514
|
|
NM_006796.3(AFG3L2):c.2025T>A (p.Phe675Leu)
|
rs1907788208
|
|
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs)
|
rs1601878540
|
|
NM_006946.4(SPTBN2):c.2605GAG[1] (p.Glu870del)
|
|
|
NM_006946.4(SPTBN2):c.4986-2A>C
|
rs1450514987
|
|
NM_007217.4(PDCD10):c.150+1G>A
|
rs1553762839
|
|
NM_013382.7(POMT2):c.1863_1864del (p.Ala623fs)
|
rs1555351849
|
|
NM_014043.4(CHMP2B):c.618A>T (p.Gln206His)
|
|
|
NM_014053.4(FLVCR1):c.1500G>A (p.Trp500Ter)
|
|
|
NM_014053.4(FLVCR1):c.1554_1555del (p.His518fs)
|
rs777543198
|
|
NM_014053.4(FLVCR1):c.1561_1564del (p.Ile520_Asn521insTer)
|
rs1572031494
|
|
NM_014363.6(SACS):c.10226C>G (p.Ser3409Ter)
|
rs1566059895
|
|
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter)
|
rs1156566314
|
|
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter)
|
rs1593133714
|
|
NM_014363.6(SACS):c.2886_2887del (p.Ser963fs)
|
rs1326359185
|
|
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter)
|
rs768209419
|
|
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)
|
rs1868872666
|
|
NM_014363.6(SACS):c.7116del (p.Gln2373fs)
|
|
|
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)
|
rs1555251539
|
|
NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs)
|
rs779248938
|
|
NM_014625.4(NPHS2):c.264del (p.Glu90fs)
|
|
|
NM_014625.4(NPHS2):c.28dup (p.Arg10fs)
|
rs1553316670
|
|
NM_014625.4(NPHS2):c.951del (p.Ala318fs)
|
rs1553312368
|
|
NM_014845.6(FIG4):c.1889+1G>T
|
|
|
NM_014845.6(FIG4):c.454C>T (p.Arg152Ter)
|
rs1175493477
|
|
NM_014846.4(WASHC5):c.1597C>T (p.Gln533Ter)
|
rs1586362593
|
|
NM_014855.3(AP5Z1):c.1015dup (p.Asp339fs)
|
rs1562408333
|
|
NM_014855.3(AP5Z1):c.1767dup (p.Leu590fs)
|
|
|
NM_014855.3(AP5Z1):c.355_358dup (p.Leu120fs)
|
rs1554257381
|
|
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln)
|
rs879254011
|
|
NM_014874.4(MFN2):c.263T>C (p.Ile88Thr)
|
rs1638739035
|
|
NM_014874.4(MFN2):c.283A>G (p.Arg95Gly)
|
rs1060501920
|
|
NM_014874.4(MFN2):c.382C>T (p.His128Tyr)
|
rs2100822486
|
|
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)
|
rs587777875
|
|
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg)
|
rs119103264
|
|
NM_014946.4(SPAST):c.1209del (p.Phe404fs)
|
rs1057520127
|
|
NM_014946.4(SPAST):c.1250G>C (p.Gly417Ala)
|
rs1553318161
|
|
NM_014946.4(SPAST):c.1386A>C (p.Lys462Asn)
|
rs1573156433
|
|
NM_014946.4(SPAST):c.1493G>A (p.Arg498Lys)
|
|
|
NM_014946.4(SPAST):c.1493G>C (p.Arg498Thr)
|
rs2148754411
|
|
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp)
|
rs864622162
|
|
NM_014946.4(SPAST):c.1675G>C (p.Gly559Arg)
|
rs878854992
|
|
NM_014946.4(SPAST):c.1730T>G (p.Met577Arg)
|
rs1553321196
|
|
NM_014946.4(SPAST):c.363del (p.Lys121fs)
|
rs1553394622
|
|
NM_014946.4(SPAST):c.405_409dup (p.Glu137fs)
|
rs1676417081
|
|
NM_014946.4(SPAST):c.924dup (p.Arg309fs)
|
rs1678805865
|
|
NM_014946.4(SPAST):c.943A>T (p.Lys315Ter)
|
rs1573120705
|
|
NM_014946.4(SPAST):c.962_974del (p.Asp321fs)
|
rs1553315223
|
|
NM_015046.7(SETX):c.2228C>G (p.Ser743Ter)
|
|
|
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter)
|
rs1589734405
|
|
NM_015046.7(SETX):c.5130T>A (p.Tyr1710Ter)
|
rs768582274
|
|
NM_015046.7(SETX):c.5543C>A (p.Ser1848Ter)
|
|
|
NM_015046.7(SETX):c.5673del (p.Ala1892fs)
|
rs1844781818
|
|
NM_015046.7(SETX):c.6289C>T (p.Gln2097Ter)
|
rs901109960
|
|
NM_015046.7(SETX):c.6654+1G>A
|
rs1554806979
|
|
NM_015046.7(SETX):c.6729_6730del (p.His2243fs)
|
rs752122764
|
|
NM_015046.7(SETX):c.6850_6851dup (p.Ala2285fs)
|
rs748700245
|
|
NM_015046.7(SETX):c.7121_7122del (p.Val2374fs)
|
rs765371601
|
|
NM_015046.7(SETX):c.7288-2A>G
|
rs1554801819
|
|
NM_015295.3(SMCHD1):c.5782dup (p.Ser1928fs)
|
rs1555658855
|
|
NM_015346.4(ZFYVE26):c.5989C>T (p.Gln1997Ter)
|
|
|
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter)
|
rs370837940
|
|
NM_015346.4(ZFYVE26):c.887-2A>G
|
rs1594937657
|
|
NM_015915.5(ATL1):c.1228G>A (p.Gly410Arg)
|
rs1555365854
|
|
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)
|
rs119476050
|
|
NM_015915.5(ATL1):c.563A>G (p.Gln188Arg)
|
rs1555364153
|
|
NM_016239.4(MYO15A):c.4321-2A>T
|
rs1597780918
|
|
NM_017534.6(MYH2):c.1275del (p.Asn425fs)
|
rs1567734638
|
|
NM_018075.5(ANO10):c.1179_1180del (p.Glu393fs)
|
|
|
NM_018075.5(ANO10):c.1760C>G (p.Ser587Ter)
|
|
|
NM_018105.3(THAP1):c.86G>A (p.Arg29Gln)
|
|
|
NM_018129.4(PNPO):c.264-2A>G
|
rs780977054
|
|
NM_018136.5(ASPM):c.5409del (p.Ala1804fs)
|
rs1461653803
|
|
NM_018319.4(TDP1):c.1731_1753+646del
|
rs1566929134
|
|
NM_018972.4(GDAP1):c.116A>G (p.Lys39Arg)
|
rs1586794308
|
|
NM_018972.4(GDAP1):c.287A>G (p.Tyr96Cys)
|
rs1586795440
|
|
NM_020247.5(COQ8A):c.1163-2A>G
|
rs1572081759
|
|
NM_020247.5(COQ8A):c.148del (p.Gln50fs)
|
rs1553276474
|
|
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)
|
rs387906299
|
|
NM_022489.4(INF2):c.326T>G (p.Met109Arg)
|
rs1555373368
|
|
NM_024301.5(FKRP):c.1006_1174del (p.Ala336fs)
|
rs1599938271
|
|
NM_025137.4(SPG11):c.237C>A (p.Cys79Ter)
|
rs1566838168
|
|
NM_025137.4(SPG11):c.3000del (p.Leu1001fs)
|
rs1555454488
|
|
NM_025137.4(SPG11):c.4740_4743dup (p.Leu1582fs)
|
|
|
NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer)
|
rs1323156960
|
|
NM_030665.4(RAI1):c.1321C>T (p.Gln441Ter)
|
rs1555565108
|
|
NM_031443.4(CCM2):c.30+5_30+6delinsTT
|
rs797044623
|
|
NM_033109.5(PNPT1):c.223-1G>A
|
|
|
NM_033337.3(CAV3):c.84C>G (p.Asp28Glu)
|
rs116840782
|
|
NM_033380.3(COL4A5):c.1111G>T (p.Gly371Ter)
|
rs878853015
|
|
NM_033380.3(COL4A5):c.1508G>T (p.Gly503Val)
|
rs1569493679
|
|
NM_033380.3(COL4A5):c.1779+1G>A
|
rs104886337
|
|
NM_033380.3(COL4A5):c.1895G>T (p.Gly632Val)
|
|
|
NM_033380.3(COL4A5):c.2024_2029del (p.Gly675_Asp676del)
|
rs1569494903
|
|
NM_033380.3(COL4A5):c.3238G>C (p.Gly1080Arg)
|
rs1556421731
|
|
NM_033380.3(COL4A5):c.3427G>T (p.Gly1143Cys)
|
rs104886228
|
|
NM_033380.3(COL4A5):c.3872dup (p.Asn1292fs)
|
rs2068330297
|
|
NM_033380.3(COL4A5):c.458G>T (p.Gly153Val)
|
rs1569488946
|
|
NM_033380.3(COL4A5):c.983del (p.Gly328fs)
|
rs1556407684
|
|
NM_052867.4(NALCN):c.966T>G (p.Ile322Met)
|
|
|
NM_130837.3(OPA1):c.1035+5G>A
|
rs754576717
|
|
NM_130837.3(OPA1):c.1036-1G>T
|
rs863224130
|
|
NM_130837.3(OPA1):c.1150-2A>T
|
rs886041317
|
|
NM_130837.3(OPA1):c.1174C>G (p.His392Asp)
|
rs1553877591
|
|
NM_130837.3(OPA1):c.1627G>A (p.Gly543Arg)
|
rs1553878554
|
|
NM_130837.3(OPA1):c.1886T>C (p.Leu629Pro)
|
rs1711513392
|
|
NM_130837.3(OPA1):c.2661+2T>C
|
|
|
NM_130837.3(OPA1):c.2983+3G>C
|
rs1553788117
|
|
NM_130837.3(OPA1):c.3010del (p.Asp1005fs)
|
rs1721762061
|
|
NM_130837.3(OPA1):c.6G>A (p.Trp2Ter)
|
|
|
NM_139058.3(ARX):c.1607G>C (p.Arg536Thr)
|
rs2048669411
|
|
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu)
|
rs552219028
|
|
NM_152564.5(VPS13B):c.3083-1G>A
|
rs1563726973
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
NM_170707.4(LMNA):c.241T>C (p.Tyr81His)
|
rs1553261977
|
|
NM_172107.4(KCNQ2):c.1692_1700del (p.Met565_Val567del)
|
|
|
NM_172107.4(KCNQ2):c.1742G>C (p.Arg581Pro)
|
rs118192235
|
|
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)
|
rs1085307913
|
|
NM_175914.5(HNF4A):c.577G>T (p.Asp193Tyr)
|
|
|
NM_175914.5(HNF4A):c.692G>A (p.Arg231Gln)
|
rs1555816615
|
|
NM_175914.5(HNF4A):c.868C>T (p.Arg290Cys)
|
rs1555817727
|
|
NM_182961.4(SYNE1):c.10486G>T (p.Glu3496Ter)
|
|
|
NM_182961.4(SYNE1):c.11138_11145del (p.Ser3713fs)
|
rs1590884711
|
|
NM_182961.4(SYNE1):c.11662C>T (p.Gln3888Ter)
|
rs1590820792
|
|
NM_182961.4(SYNE1):c.11971_11974del (p.Ile3991fs)
|
rs1246610728
|
|
NM_182961.4(SYNE1):c.13390C>T (p.Gln4464Ter)
|
rs1554471992
|
|
NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)
|
|
|
NM_182961.4(SYNE1):c.15567del (p.Trp5189fs)
|
rs1590102028
|
|
NM_182961.4(SYNE1):c.15897del (p.Met5300fs)
|
rs1057518603
|
|
NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter)
|
rs797046024
|
|
NM_182961.4(SYNE1):c.16828G>T (p.Gly5610Ter)
|
|
|
NM_182961.4(SYNE1):c.16882C>T (p.Gln5628Ter)
|
rs2153836962
|
|
NM_182961.4(SYNE1):c.17003delinsTC (p.Gln5668fs)
|
rs1589780980
|
|
NM_182961.4(SYNE1):c.19582C>T (p.Gln6528Ter)
|
|
|
NM_182961.4(SYNE1):c.20602C>T (p.Arg6868Ter)
|
rs763818494
|
|
NM_182961.4(SYNE1):c.226-1G>A
|
rs1594574182
|
|
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs)
|
rs1554558620
|
|
NM_182961.4(SYNE1):c.23346_23349delinsAATGAAT (p.Trp7782_Ala7783delinsTer)
|
rs2067614941
|
|
NM_182961.4(SYNE1):c.4310+1G>T
|
|
|
NM_182961.4(SYNE1):c.482_483del (p.Ser160_Ser161insTer)
|
rs1554829141
|
|
NM_182961.4(SYNE1):c.4981_4984del (p.Glu1661fs)
|
|
|
NM_182961.4(SYNE1):c.639del (p.His214fs)
|
rs1412791793
|
|
NM_182961.4(SYNE1):c.7345del (p.Leu2449fs)
|
|
|
NM_182961.4(SYNE1):c.7494dup (p.Phe2499fs)
|
rs1194460500
|
|
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter)
|
rs946657984
|
|
NM_194454.3(KRIT1):c.1959_1962dup (p.Val655Ter)
|
|
|
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter)
|
rs886043300
|
|
NM_203446.3(SYNJ1):c.2461+2T>C
|
|
|
NM_203447.4(DOCK8):c.1648C>T (p.Arg550Ter)
|
rs1057518028
|
|
Single allele
|
|
|