NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)
|
rs9378252
|
0.00995
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000344.4(SMN1):c.5C>G (p.Ala2Gly)
|
rs1554066397
|
0.00571
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_000110.4(DPYD):c.1905+1G>A
|
rs3918290
|
0.00474
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)
|
rs7755898
|
0.00339
|
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)
|
rs104893836
|
0.00234
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00126
|
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)
|
rs142609245
|
0.00116
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)
|
rs9378251
|
0.00055
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
|
rs116171274
|
0.00051
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
0.00049
|
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)
|
rs776989258
|
0.00047
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_001130987.2(DYSF):c.2697+1G>A
|
rs140108514
|
0.00046
|
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter)
|
rs104894103
|
0.00044
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)
|
rs146457619
|
0.00039
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)
|
rs28940893
|
0.00037
|
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter)
|
rs146124466
|
0.00032
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)
|
rs121912799
|
0.00028
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
NM_000100.4(CSTB):c.67-1G>C
|
rs147484110
|
0.00027
|
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His)
|
rs113994049
|
0.00027
|
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)
|
rs119455955
|
0.00025
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_000026.4(ADSL):c.1277G>A (p.Arg426His)
|
rs119450941
|
0.00024
|
NM_001126108.2(SLC12A3):c.2856+1G>T
|
rs199974259
|
0.00024
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_000022.4(ADA):c.986C>T (p.Ala329Val)
|
rs121908715
|
0.00021
|
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)
|
rs587781722
|
0.00021
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000083.3(CLCN1):c.180+3A>T
|
rs202217420
|
0.00019
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_000352.6(ABCC8):c.3989-9G>A
|
rs151344623
|
0.00019
|
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)
|
rs149095128
|
0.00018
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)
|
rs371024165
|
0.00017
|
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)
|
rs147764579
|
0.00016
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00016
|
NM_004562.3(PRKN):c.337_376del (p.Pro113fs)
|
rs771529549
|
0.00016
|
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
|
rs111033270
|
0.00016
|
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)
|
rs141656719
|
0.00015
|
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val)
|
rs72547551
|
0.00015
|
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter)
|
rs137852994
|
0.00015
|
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077
|
0.00015
|
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)
|
rs121908114
|
0.00015
|
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)
|
rs80338802
|
0.00014
|
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)
|
rs140012781
|
0.00014
|
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)
|
rs121918358
|
0.00014
|
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)
|
rs150283105
|
0.00014
|
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)
|
rs142073798
|
0.00014
|
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)
|
rs376107921
|
0.00013
|
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer)
|
rs554675432
|
0.00013
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp)
|
rs191486604
|
0.00013
|
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)
|
rs63750082
|
0.00012
|
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn)
|
rs769114543
|
0.00012
|
NM_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
0.00011
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)
|
rs62541771
|
0.00011
|
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)
|
rs79783591
|
0.00011
|
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu)
|
rs775006954
|
0.00011
|
NM_017866.6(TMEM70):c.317-2A>G
|
rs183973249
|
0.00011
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
|
rs201118034
|
0.00010
|
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)
|
rs369227537
|
0.00010
|
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)
|
rs267606919
|
0.00010
|
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)
|
rs138043021
|
0.00010
|
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)
|
rs137854526
|
0.00010
|
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)
|
rs759377924
|
0.00009
|
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met)
|
rs145337602
|
0.00009
|
NM_004646.4(NPHS1):c.2335-1G>A
|
rs150038620
|
0.00009
|
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)
|
rs377357931
|
0.00009
|
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala)
|
rs28940576
|
0.00009
|
NM_213599.3(ANO5):c.1898+1G>A
|
rs142027093
|
0.00009
|
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)
|
rs148038173
|
0.00008
|
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)
|
rs373901523
|
0.00008
|
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)
|
rs202114767
|
0.00008
|
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr)
|
rs199849117
|
0.00008
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)
|
rs201060167
|
0.00008
|
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
|
rs139590686
|
0.00008
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)
|
rs397516874
|
0.00008
|
NM_004562.3(PRKN):c.2T>C (p.Met1Thr)
|
rs771586218
|
0.00008
|
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)
|
rs121908613
|
0.00008
|
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)
|
rs13447331
|
0.00008
|
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)
|
rs7769409
|
0.00007
|
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter)
|
rs141559558
|
0.00007
|
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu)
|
rs28937890
|
0.00007
|
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)
|
rs377349459
|
0.00006
|
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)
|
rs200646556
|
0.00006
|
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)
|
rs201736037
|
0.00006
|
NM_000070.3(CAPN3):c.499-1G>A
|
rs863224964
|
0.00006
|
NM_000085.5(CLCNKB):c.1783C>T (p.Arg595Ter)
|
rs370221310
|
0.00006
|
NM_000144.5(FXN):c.467T>C (p.Leu156Pro)
|
rs143340609
|
0.00006
|
NM_000486.6(AQP2):c.211G>A (p.Val71Met)
|
rs149659001
|
0.00006
|
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)
|
rs121918593
|
0.00006
|
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)
|
rs121908611
|
0.00006
|
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter)
|
rs774294963
|
0.00006
|
NM_138691.3(TMC1):c.1165C>T (p.Arg389Ter)
|
rs151001642
|
0.00006
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)
|
rs104894707
|
0.00006
|
NM_213599.3(ANO5):c.41-1G>A
|
rs398124625
|
0.00006
|
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp)
|
rs863224973
|
0.00005
|
NM_000500.9(CYP21A2):c.1279C>T (p.Arg427Cys)
|
rs1370167869
|
0.00005
|
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)
|
rs34803727
|
0.00005
|
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)
|
rs398123799
|
0.00005
|
NM_002693.3(POLG):c.3104+1G>A
|
rs138917386
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)
|
rs63749824
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)
|
rs863224959
|
0.00004
|
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)
|
rs199806879
|
0.00004
|
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)
|
rs886042478
|
0.00004
|
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)
|
rs80356701
|
0.00004
|
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys)
|
rs121909133
|
0.00004
|
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter)
|
rs764046610
|
0.00004
|
NM_000144.5(FXN):c.389G>T (p.Gly130Val)
|
rs104894107
|
0.00004
|
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)
|
rs78973108
|
0.00004
|
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg)
|
rs762479018
|
0.00004
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)
|
rs121918085
|
0.00004
|
NM_000454.5(SOD1):c.14C>T (p.Ala5Val)
|
rs121912442
|
0.00004
|
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)
|
rs72552758
|
0.00004
|
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)
|
rs121913603
|
0.00004
|
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met)
|
rs371443644
|
0.00004
|
NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln)
|
rs758035631
|
0.00004
|
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)
|
rs398123787
|
0.00004
|
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)
|
rs574660186
|
0.00004
|
NM_002693.3(POLG):c.3104+3A>T
|
rs778573169
|
0.00004
|
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)
|
rs769602042
|
0.00004
|
NM_003119.4(SPG7):c.2096dup (p.Met699fs)
|
rs747503698
|
0.00004
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val)
|
rs780761368
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_025137.4(SPG11):c.1348dup (p.Ile450fs)
|
rs312262725
|
0.00004
|
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro)
|
rs28940285
|
0.00004
|
NM_138691.3(TMC1):c.1676G>A (p.Trp559Ter)
|
rs876657728
|
0.00004
|
NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter)
|
rs566415362
|
0.00004
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)
|
rs557164942
|
0.00003
|
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter)
|
rs863224960
|
0.00003
|
NM_000070.3(CAPN3):c.802-9G>A
|
rs761211705
|
0.00003
|
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)
|
rs80356703
|
0.00003
|
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)
|
rs774843953
|
0.00003
|
NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs)
|
rs780534566
|
0.00003
|
NM_000083.3(CLCN1):c.2596-1G>A
|
rs771721648
|
0.00003
|
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)
|
rs150885084
|
0.00003
|
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter)
|
rs756231749
|
0.00003
|
NM_000162.5(GCK):c.106C>T (p.Arg36Trp)
|
rs762263694
|
0.00003
|
NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys)
|
rs60373464
|
0.00003
|
NM_000486.6(AQP2):c.277C>T (p.Gln93Ter)
|
rs770810694
|
0.00003
|
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
0.00003
|
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter)
|
rs45517340
|
0.00003
|
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)
|
rs104894718
|
0.00003
|
NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His)
|
rs147901432
|
0.00003
|
NM_001126108.2(SLC12A3):c.2505G>A (p.Trp835Ter)
|
rs1366655422
|
0.00003
|
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln)
|
rs121909721
|
0.00003
|
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)
|
rs111033297
|
0.00003
|
NM_004004.6(GJB2):c.299_300del (p.His100fs)
|
rs111033204
|
0.00003
|
NM_004004.6(GJB2):c.2T>C (p.Met1Thr)
|
rs371086981
|
0.00003
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
0.00003
|
NM_004006.3(DMD):c.1812+1G>A
|
rs373286166
|
0.00003
|
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)
|
rs386833887
|
0.00003
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter)
|
rs778055996
|
0.00003
|
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser)
|
rs748812981
|
0.00003
|
NM_014625.4(NPHS2):c.948del (p.Ala317fs)
|
rs775170915
|
0.00003
|
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)
|
rs387906991
|
0.00003
|
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)
|
rs773450573
|
0.00003
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)
|
rs118203963
|
0.00003
|
NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter)
|
rs749956288
|
0.00003
|
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338
|
0.00003
|
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)
|
rs104894714
|
0.00003
|
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys)
|
rs33939927
|
0.00003
|
NM_213599.3(ANO5):c.762+1G>A
|
rs372221490
|
0.00003
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)
|
rs768090444
|
0.00002
|
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)
|
rs587780290
|
0.00002
|
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro)
|
rs758795961
|
0.00002
|
NM_000083.3(CLCN1):c.774+1G>A
|
rs776073429
|
0.00002
|
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met)
|
rs80356687
|
0.00002
|
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr)
|
rs764100025
|
0.00002
|
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile)
|
rs774396430
|
0.00002
|
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg)
|
rs201859109
|
0.00002
|
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg)
|
rs769783985
|
0.00002
|
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)
|
rs74315442
|
0.00002
|
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)
|
rs409652
|
0.00002
|
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)
|
rs377176361
|
0.00002
|
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)
|
rs139328569
|
0.00002
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
NM_000370.3(TTPA):c.205-2A>G
|
rs758349851
|
0.00002
|
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)
|
rs786204758
|
0.00002
|
NM_000454.5(SOD1):c.435G>C (p.Leu145Phe)
|
rs1482760341
|
0.00002
|
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
|
rs137854550
|
0.00002
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)
|
rs775931992
|
0.00002
|
NM_001130987.2(DYSF):c.1149+1G>A
|
rs398123763
|
0.00002
|
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)
|
rs121908955
|
0.00002
|
NM_001267550.2(TTN):c.107377+1G>A
|
rs112188483
|
0.00002
|
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp)
|
rs63750424
|
0.00002
|
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)
|
rs763393580
|
0.00002
|
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)
|
rs771748289
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)
|
rs386833912
|
0.00002
|
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)
|
rs80338923
|
0.00002
|
NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu)
|
rs376239580
|
0.00002
|
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)
|
rs180177365
|
0.00002
|
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter)
|
rs778445117
|
0.00002
|
NM_000021.4(PSEN1):c.806G>A (p.Arg269His)
|
rs63750900
|
0.00001
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter)
|
rs750614500
|
0.00001
|
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)
|
rs128624225
|
0.00001
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)
|
rs1060501687
|
0.00001
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)
|
rs587779844
|
0.00001
|
NM_000051.4(ATM):c.5290del (p.Leu1764fs)
|
rs587779846
|
0.00001
|
NM_000051.4(ATM):c.6997dup
|
rs587781299
|
0.00001
|
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)
|
rs80338777
|
0.00001
|
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)
|
rs749099493
|
0.00001
|
NM_000070.3(CAPN3):c.1194-9A>G
|
rs374665929
|
0.00001
|
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)
|
rs774048743
|
0.00001
|
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)
|
rs863224956
|
0.00001
|
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)
|
rs863224957
|
0.00001
|
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)
|
rs121434544
|
0.00001
|
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer)
|
rs762471207
|
0.00001
|
NM_000070.3(CAPN3):c.2185-2A>G
|
rs886041335
|
0.00001
|
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
|
rs778768583
|
0.00001
|
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)
|
rs767000881
|
0.00001
|
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter)
|
rs201714423
|
0.00001
|
NM_000083.3(CLCN1):c.1471+1G>A
|
rs375596425
|
0.00001
|
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)
|
rs770900468
|
0.00001
|
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)
|
rs80356704
|
0.00001
|
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)
|
rs80356696
|
0.00001
|
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter)
|
rs201894078
|
0.00001
|
NM_000083.3(CLCN1):c.1930+1G>A
|
rs771002652
|
0.00001
|
NM_000083.3(CLCN1):c.2364+2T>A
|
rs886041384
|
0.00001
|
NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter)
|
rs1057518917
|
0.00001
|
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp)
|
rs748639603
|
0.00001
|
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter)
|
rs1229066957
|
0.00001
|
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met)
|
rs80356691
|
0.00001
|
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)
|
rs80356692
|
0.00001
|
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)
|
rs80356702
|
0.00001
|
NM_000089.4(COL1A2):c.389G>A (p.Gly130Asp)
|
rs72656360
|
0.00001
|
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)
|
rs72656387
|
0.00001
|
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)
|
rs868002181
|
0.00001
|
NM_000091.5(COL4A3):c.3250G>T (p.Glu1084Ter)
|
rs1192750535
|
0.00001
|
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)
|
rs775373641
|
0.00001
|
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)
|
rs1014839148
|
0.00001
|
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu)
|
rs755649235
|
0.00001
|
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser)
|
rs181528936
|
0.00001
|
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)
|
rs121912860
|
0.00001
|
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)
|
rs545986367
|
0.00001
|
NM_000144.5(FXN):c.317T>C (p.Leu106Ser)
|
rs104894105
|
0.00001
|
NM_000144.5(FXN):c.3G>T (p.Met1Ile)
|
rs104894108
|
0.00001
|
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)
|
rs1085307455
|
0.00001
|
NM_000162.5(GCK):c.676G>A (p.Val226Met)
|
rs148311934
|
0.00001
|
NM_000162.5(GCK):c.70C>T (p.Gln24Ter)
|
rs1281712444
|
0.00001
|
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)
|
rs779696968
|
0.00001
|
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp)
|
rs139643362
|
0.00001
|
NM_000216.4(ANOS1):c.1270C>T (p.Arg424Ter)
|
rs747010865
|
0.00001
|
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp)
|
rs397516321
|
0.00001
|
NM_000297.4(PKD2):c.1094+1G>A
|
rs58606740
|
0.00001
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000297.4(PKD2):c.1319+1G>A
|
rs1131692280
|
0.00001
|
NM_000297.4(PKD2):c.1898+5G>A
|
rs1553926929
|
0.00001
|
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)
|
rs121918040
|
0.00001
|
NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter)
|
rs1276594505
|
0.00001
|
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)
|
rs1302726543
|
0.00001
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)
|
rs1060503526
|
0.00001
|
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His)
|
rs80338784
|
0.00001
|
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp)
|
rs121908556
|
0.00001
|
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)
|
rs121908557
|
0.00001
|
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln)
|
rs80338789
|
0.00001
|
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)
|
rs121908551
|
0.00001
|
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala)
|
rs80338792
|
0.00001
|
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter)
|
rs137852704
|
0.00001
|
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)
|
rs72559734
|
0.00001
|
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)
|
rs769518471
|
0.00001
|
NM_000352.6(ABCC8):c.4157C>T (p.Ser1386Phe)
|
rs72559718
|
0.00001
|
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)
|
rs72559715
|
0.00001
|
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)
|
rs28936371
|
0.00001
|
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)
|
rs72559730
|
0.00001
|
NM_000371.4(TTR):c.130C>T (p.Pro44Ser)
|
rs11541790
|
0.00001
|
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)
|
rs121918070
|
0.00001
|
NM_000388.4(CASR):c.166G>T (p.Glu56Ter)
|
rs1358793834
|
0.00001
|
NM_000388.4(CASR):c.2038C>T (p.Arg680Cys)
|
rs767363250
|
0.00001
|
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)
|
rs121909258
|
0.00001
|
NM_000426.4(LAMA2):c.112+1G>A
|
rs398123367
|
0.00001
|
NM_000426.4(LAMA2):c.5234+1G>A
|
rs781376927
|
0.00001
|
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)
|
rs762806915
|
0.00001
|
NM_000435.3(NOTCH3):c.1010A>G (p.Tyr337Cys)
|
rs2046925676
|
0.00001
|
NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys)
|
rs1202763005
|
0.00001
|
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)
|
rs777751303
|
0.00001
|
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys)
|
rs1057519101
|
0.00001
|
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)
|
rs1167405466
|
0.00001
|
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys)
|
rs1438626607
|
0.00001
|
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr)
|
rs1266914122
|
0.00001
|
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)
|
rs28933697
|
0.00001
|
NM_000435.3(NOTCH3):c.553T>C (p.Cys185Arg)
|
rs1568361844
|
0.00001
|
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)
|
rs775267348
|
0.00001
|
NM_000451.4(SHOX):c.583C>T (p.Arg195Ter)
|
rs137852552
|
0.00001
|
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)
|
rs121912441
|
0.00001
|
NM_000454.5(SOD1):c.449T>C (p.Ile150Thr)
|
rs1424014997
|
0.00001
|
NM_000487.6(ARSA):c.1210+1G>A
|
rs80338820
|
0.00001
|
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)
|
rs74315472
|
0.00001
|
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro)
|
rs387907573
|
0.00001
|
NM_000515.5(GH1):c.626G>A (p.Arg209His)
|
rs137853223
|
0.00001
|
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)
|
rs104894248
|
0.00001
|
NM_000527.5(LDLR):c.2061dup (p.Asn688fs)
|
rs137853965
|
0.00001
|
NM_000530.8(MPZ):c.116A>C (p.His39Pro)
|
rs371856018
|
0.00001
|
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)
|
rs121913590
|
0.00001
|
NM_000530.8(MPZ):c.293G>A (p.Arg98His)
|
rs121913589
|
0.00001
|
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)
|
rs281865128
|
0.00001
|
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)
|
rs137853236
|
0.00001
|
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln)
|
rs893256143
|
0.00001
|
NM_000545.8(HNF1A):c.608G>A (p.Arg203His)
|
rs587780357
|
0.00001
|
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln)
|
rs779184183
|
0.00001
|
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)
|
rs45438205
|
0.00001
|
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)
|
rs45517395
|
0.00001
|
NM_000551.4(VHL):c.292T>C (p.Tyr98His)
|
rs5030809
|
0.00001
|
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter)
|
rs774453006
|
0.00001
|
NM_001009944.3(PKD1):c.4387C>T (p.Gln1463Ter)
|
rs1183899324
|
0.00001
|
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)
|
rs1555455457
|
0.00001
|
NM_001009944.3(PKD1):c.8017-2_8017-1del
|
rs1567180636
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met)
|
rs1358566538
|
0.00001
|
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)
|
rs778405030
|
0.00001
|
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
|
rs137854557
|
0.00001
|
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)
|
rs267606600
|
0.00001
|
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)
|
rs768638173
|
0.00001
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)
|
rs397514641
|
0.00001
|
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)
|
rs119463990
|
0.00001
|
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
|
rs137852973
|
0.00001
|
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs)
|
rs771701344
|
0.00001
|
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His)
|
rs185927948
|
0.00001
|
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met)
|
rs267607050
|
0.00001
|
NM_001126108.2(SLC12A3):c.506-1G>A
|
rs201555148
|
0.00001
|
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)
|
rs377735262
|
0.00001
|
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)
|
rs746873768
|
0.00001
|
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter)
|
rs886042091
|
0.00001
|
NM_001130987.2(DYSF):c.356del (p.Val119fs)
|
rs398123782
|
0.00001
|
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)
|
rs121908959
|
0.00001
|
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs)
|
rs762133567
|
0.00001
|
NM_001166114.2(PNPLA6):c.316-2A>T
|
rs148045000
|
0.00001
|
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)
|
rs770272088
|
0.00001
|
NM_001927.4(DES):c.322G>T (p.Glu108Ter)
|
rs62636490
|
0.00001
|
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter)
|
rs63751294
|
0.00001
|
NM_002693.3(POLG):c.679C>T (p.Arg227Trp)
|
rs121918056
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)
|
rs397516836
|
0.00001
|
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro)
|
rs864622094
|
0.00001
|
NM_003919.3(SGCE):c.304C>T (p.Arg102Ter)
|
rs121908490
|
0.00001
|
NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer)
|
rs794727794
|
0.00001
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
NM_004004.6(GJB2):c.31_68del (p.Gly11fs)
|
rs397516873
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter)
|
rs128626249
|
0.00001
|
NM_004646.4(NPHS1):c.2663+2T>G
|
rs762392183
|
0.00001
|
NM_004863.4(SPTLC2):c.547C>T (p.Arg183Trp)
|
rs775437084
|
0.00001
|
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)
|
rs1012819766
|
0.00001
|
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter)
|
rs121908924
|
0.00001
|
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys)
|
rs370479598
|
0.00001
|
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)
|
rs369841551
|
0.00001
|
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)
|
rs119482083
|
0.00001
|
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe)
|
rs121908458
|
0.00001
|
NM_007126.5(VCP):c.476G>A (p.Arg159His)
|
rs121909335
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val)
|
rs80356721
|
0.00001
|
NM_014049.5(ACAD9):c.253C>T (p.Arg85Ter)
|
rs148694290
|
0.00001
|
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)
|
rs1057517250
|
0.00001
|
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter)
|
rs946368716
|
0.00001
|
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)
|
rs374128662
|
0.00001
|
NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter)
|
rs74315343
|
0.00001
|
NM_014625.4(NPHS2):c.503G>A (p.Arg168His)
|
rs530318579
|
0.00001
|
NM_014625.4(NPHS2):c.538G>A (p.Val180Met)
|
rs74315347
|
0.00001
|
NM_014874.4(MFN2):c.707C>T (p.Thr236Met)
|
rs773159585
|
0.00001
|
NM_014946.4(SPAST):c.1245+1G>A
|
rs875989878
|
0.00001
|
NM_015046.7(SETX):c.5267T>C (p.Phe1756Ser)
|
rs762175796
|
0.00001
|
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)
|
rs864622269
|
0.00001
|
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)
|
rs386834039
|
0.00001
|
NM_018075.5(ANO10):c.338-2A>G
|
rs761765455
|
0.00001
|
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter)
|
rs769364943
|
0.00001
|
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)
|
rs745663149
|
0.00001
|
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)
|
rs28937906
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)
|
rs267607146
|
0.00001
|
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143
|
0.00001
|
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val)
|
rs757043077
|
0.00001
|
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)
|
rs121907909
|
0.00001
|
NM_025137.4(SPG11):c.2316+1G>A
|
rs312262740
|
0.00001
|
NM_025137.4(SPG11):c.255G>A (p.Trp85Ter)
|
rs957519261
|
0.00001
|
NM_025137.4(SPG11):c.4109del (p.Asp1370fs)
|
rs1259332141
|
0.00001
|
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs)
|
rs312262759
|
0.00001
|
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter)
|
rs755800734
|
0.00001
|
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)
|
rs116840778
|
0.00001
|
NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter)
|
rs746509804
|
0.00001
|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
|
rs56816490
|
0.00001
|
NM_181882.3(PRX):c.3611del (p.Leu1204fs)
|
rs776887800
|
0.00001
|
NM_182961.4(SYNE1):c.14500C>T (p.Arg4834Ter)
|
rs766129413
|
0.00001
|
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter)
|
rs780451185
|
0.00001
|
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter)
|
rs1174316105
|
0.00001
|
NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter)
|
rs760715690
|
0.00001
|
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter)
|
rs119103243
|
0.00001
|
NM_182961.4(SYNE1):c.9625A>T (p.Lys3209Ter)
|
rs780991031
|
0.00001
|
NC_000007.13:g.(?_45039923)_(45115656_?)del
|
|
|
NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val)
|
rs63751416
|
|
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)
|
rs63750083
|
|
NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys)
|
rs281875357
|
|
NM_000021.4(PSEN1):c.338+1del
|
rs63751475
|
|
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)
|
rs63750450
|
|
NM_000021.4(PSEN1):c.415A>G (p.Met139Val)
|
rs63751037
|
|
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr)
|
rs63750004
|
|
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile)
|
rs63750391
|
|
NM_000021.4(PSEN1):c.488A>G (p.His163Arg)
|
rs63750590
|
|
NM_000021.4(PSEN1):c.697A>C (p.Met233Leu)
|
|
|
NM_000021.4(PSEN1):c.697A>G (p.Met233Val)
|
rs63751287
|
|
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)
|
rs63750526
|
|
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu)
|
rs63750301
|
|
NM_000021.4(PSEN1):c.856C>G (p.Leu286Val)
|
rs63751235
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
NM_000033.4(ABCD1):c.1440del (p.Ile481fs)
|
rs1557054318
|
|
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His)
|
rs201568579
|
|
NM_000033.4(ABCD1):c.1807del (p.Asp603fs)
|
|
|
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)
|
rs150346282
|
|
NM_000047.3(ARSL):c.1009_1010del (p.Leu337fs)
|
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)
|
rs786203404
|
|
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)
|
rs532480170
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8432del (p.Lys2811fs)
|
rs587782558
|
|
NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser)
|
rs781950164
|
|
NM_000054.7(AVPR2):c.441dup (p.Tyr148fs)
|
rs1603282111
|
|
NM_000054.7(AVPR2):c.554del (p.Gly185fs)
|
rs193922116
|
|
NM_000054.7(AVPR2):c.911-2A>G
|
rs1569545567
|
|
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly)
|
rs28930069
|
|
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)
|
rs28930068
|
|
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)
|
rs863224965
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)
|
rs773827877
|
|
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)
|
rs80338803
|
|
NM_000070.3(CAPN3):c.1992+1G>T
|
rs863224961
|
|
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)
|
rs1555423217
|
|
NM_000070.3(CAPN3):c.2381-2A>G
|
rs863224962
|
|
NM_000070.3(CAPN3):c.259_262del (p.Leu87fs)
|
rs763649825
|
|
NM_000070.3(CAPN3):c.322_334dup (p.Ile112fs)
|
rs1555420075
|
|
NM_000070.3(CAPN3):c.483del (p.Ile162fs)
|
rs863224963
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)
|
rs727503837
|
|
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)
|
rs794727697
|
|
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs)
|
rs863224966
|
|
NM_000080.4(CHRNE):c.1327del
|
rs763258280
|
|
NM_000083.3(CLCN1):c.1183_1187del (p.Gly395fs)
|
|
|
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs)
|
rs763633152
|
|
NM_000083.3(CLCN1):c.1264G>T (p.Glu422Ter)
|
|
|
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)
|
rs768119034
|
|
NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu)
|
rs1312002847
|
|
NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter)
|
rs1803112361
|
|
NM_000083.3(CLCN1):c.2023C>T (p.Gln675Ter)
|
rs1563086980
|
|
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs)
|
rs755176513
|
|
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)
|
rs797045032
|
|
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)
|
rs80356700
|
|
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)
|
rs80356690
|
|
NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter)
|
rs1554436419
|
|
NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter)
|
rs1337473924
|
|
NM_000085.5(CLCNKB):c.18dup (p.Leu7fs)
|
rs953686324
|
|
NM_000085.5(CLCNKB):c.73del (p.Cys25fs)
|
rs1553127141
|
|
NM_000088.3(COL1A1):c.3131_3133delinsT (p.Pro1044fs)
|
rs1567754639
|
|
NM_000088.3(COL1A1):c.3188_3190delGTGins13 (p.?)
|
|
|
NM_000088.4(COL1A1):c.1121G>C (p.Gly374Ala)
|
rs1555574143
|
|
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)
|
rs72648326
|
|
NM_000088.4(COL1A1):c.1299+1G>A
|
rs66490707
|
|
NM_000088.4(COL1A1):c.1601del (p.Leu534fs)
|
rs1598295506
|
|
NM_000088.4(COL1A1):c.1614+1G>C
|
rs72648357
|
|
NM_000088.4(COL1A1):c.1652del (p.Gly551fs)
|
rs1555573684
|
|
NM_000088.4(COL1A1):c.1767+1G>A
|
rs2144569036
|
|
NM_000088.4(COL1A1):c.1804G>A (p.Gly602Arg)
|
rs72651615
|
|
NM_000088.4(COL1A1):c.1821+1G>A
|
rs66555264
|
|
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)
|
rs67879854
|
|
NM_000088.4(COL1A1):c.2533G>A (p.Gly845Arg)
|
rs72653136
|
|
NM_000088.4(COL1A1):c.2685del (p.Gly896fs)
|
rs193922151
|
|
NM_000088.4(COL1A1):c.2969del (p.Ala990fs)
|
rs1906821341
|
|
NM_000088.4(COL1A1):c.299-1G>A
|
rs1598301619
|
|
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)
|
rs72653173
|
|
NM_000088.4(COL1A1):c.3102_3111dup (p.Glu1038Ter)
|
rs2144546004
|
|
NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser)
|
rs72653178
|
|
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2])
|
rs74315111
|
|
NM_000088.4(COL1A1):c.3360del (p.Gly1121fs)
|
rs1260429820
|
|
NM_000088.4(COL1A1):c.3494del (p.Pro1165fs)
|
rs1598286050
|
|
NM_000088.4(COL1A1):c.441del (p.Gly148fs)
|
rs1473458290
|
|
NM_000088.4(COL1A1):c.549del (p.Ser184fs)
|
rs1907769451
|
|
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)
|
rs72645321
|
|
NM_000088.4(COL1A1):c.805-36_810del
|
rs1555574450
|
|
NM_000088.4(COL1A1):c.868G>C (p.Gly290Arg)
|
rs1555574410
|
|
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg)
|
rs72645355
|
|
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg)
|
rs1555574303
|
|
NM_000089.4(COL1A2):c.1081_1090-55del
|
rs1554396162
|
|
NM_000089.4(COL1A2):c.1153G>A (p.Gly385Arg)
|
rs1584319922
|
|
NM_000089.4(COL1A2):c.1666G>A (p.Gly556Ser)
|
rs1554396832
|
|
NM_000089.4(COL1A2):c.1991G>T (p.Gly664Val)
|
rs72658154
|
|
NM_000089.4(COL1A2):c.2296G>A (p.Gly766Ser)
|
rs72658182
|
|
NM_000089.4(COL1A2):c.2332G>A (p.Gly778Ser)
|
rs72658186
|
|
NM_000089.4(COL1A2):c.2405G>C (p.Gly802Ala)
|
rs1562906013
|
|
NM_000089.4(COL1A2):c.2450G>A (p.Gly817Glu)
|
|
|
NM_000089.4(COL1A2):c.2503G>A (p.Gly835Ser)
|
rs72658193
|
|
NM_000089.4(COL1A2):c.3304G>A (p.Gly1102Ser)
|
rs67768540
|
|
NM_000089.4(COL1A2):c.371G>A (p.Gly124Asp)
|
rs72656359
|
|
NM_000089.4(COL1A2):c.389G>T (p.Gly130Val)
|
rs72656360
|
|
NM_000089.4(COL1A2):c.604G>C (p.Gly202Arg)
|
|
|
NM_000089.4(COL1A2):c.956G>A (p.Gly319Glu)
|
rs1554396083
|
|
NM_000091.5(COL4A3):c.2126G>A (p.Gly709Glu)
|
rs1553759430
|
|
NM_000091.5(COL4A3):c.2176dup (p.Met726fs)
|
rs1559893935
|
|
NM_000091.5(COL4A3):c.3619G>C (p.Gly1207Arg)
|
rs1167411352
|
|
NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu)
|
rs1553764136
|
|
NM_000091.5(COL4A3):c.3882+5G>A
|
rs1553764454
|
|
NM_000091.5(COL4A3):c.637G>A (p.Gly213Arg)
|
rs1553752192
|
|
NM_000092.5(COL4A4):c.1603G>T (p.Glu535Ter)
|
rs1553669674
|
|
NM_000092.5(COL4A4):c.2110G>A (p.Gly704Arg)
|
rs1379525680
|
|
NM_000092.5(COL4A4):c.4334G>A (p.Gly1445Glu)
|
rs1559402680
|
|
NM_000092.5(COL4A4):c.914_930+29del
|
rs1553683757
|
|
NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg)
|
rs762162799
|
|
NM_000100.4(CSTB):c.145del (p.Ala49fs)
|
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
NM_000117.3(EMD):c.116_143del (p.Phe39fs)
|
rs1569552080
|
|
NM_000117.3(EMD):c.3G>A (p.Met1Ile)
|
rs886044771
|
|
NM_000129.4(F13A1):c.27del (p.Phe9fs)
|
rs763797788
|
|
NM_000144.5(FXN):c.169del (p.Ser57fs)
|
|
|
NM_000144.5(FXN):c.285T>A (p.Tyr95Ter)
|
rs372775073
|
|
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp)
|
rs104894435
|
|
NM_000161.3(GCH1):c.510-1G>A
|
rs1555358604
|
|
NM_000161.3(GCH1):c.614T>A (p.Val205Glu)
|
rs1418922853
|
|
NM_000161.3(GCH1):c.752G>C (p.Ter251Ser)
|
rs201255606
|
|
NM_000162.5(GCK):c.1003del (p.Val335fs)
|
rs193922254
|
|
NM_000162.5(GCK):c.1020-1G>A
|
rs193922258
|
|
NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer)
|
rs1562713041
|
|
NM_000162.5(GCK):c.1083dup (p.Thr362fs)
|
|
|
NM_000162.5(GCK):c.1113C>A (p.Cys371Ter)
|
rs556581174
|
|
NM_000162.5(GCK):c.1133_1149del (p.Ala378fs)
|
rs1554334610
|
|
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu)
|
rs193922265
|
|
NM_000162.5(GCK):c.1155dup (p.Leu386fs)
|
rs1400535021
|
|
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys)
|
rs1167124132
|
|
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)
|
rs193922272
|
|
NM_000162.5(GCK):c.127C>T (p.Arg43Cys)
|
rs1486280029
|
|
NM_000162.5(GCK):c.1280_1283dup (p.Arg429fs)
|
rs2096270699
|
|
NM_000162.5(GCK):c.1284_1362del (p.Arg429fs)
|
rs2096270423
|
|
NM_000162.5(GCK):c.128G>A (p.Arg43His)
|
rs764232985
|
|
NM_000162.5(GCK):c.130G>A (p.Gly44Ser)
|
rs267601516
|
|
NM_000162.5(GCK):c.1327G>T (p.Glu443Ter)
|
rs1562711915
|
|
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)
|
rs1131691416
|
|
NM_000162.5(GCK):c.1340_1368del (p.Arg447fs)
|
rs1339598338
|
|
NM_000162.5(GCK):c.140dup (p.Glu48fs)
|
rs2128823146
|
|
NM_000162.5(GCK):c.175C>T (p.Pro59Ser)
|
rs193922287
|
|
NM_000162.5(GCK):c.184G>A (p.Val62Met)
|
rs1064793998
|
|
NM_000162.5(GCK):c.208G>A (p.Glu70Lys)
|
rs2128823091
|
|
NM_000162.5(GCK):c.214G>A (p.Gly72Arg)
|
rs193922289
|
|
NM_000162.5(GCK):c.286G>T (p.Glu96Ter)
|
rs2096281776
|
|
NM_000162.5(GCK):c.295T>C (p.Trp99Arg)
|
rs1554335751
|
|
NM_000162.5(GCK):c.364-1G>A
|
rs1057521094
|
|
NM_000162.5(GCK):c.387C>A (p.Cys129Ter)
|
rs1583601365
|
|
NM_000162.5(GCK):c.440del (p.Gly147fs)
|
rs1554335585
|
|
NM_000162.5(GCK):c.45+1G>T
|
rs781260712
|
|
NM_000162.5(GCK):c.46-2A>G
|
rs1554335966
|
|
NM_000162.5(GCK):c.469G>A (p.Glu157Lys)
|
rs1554335570
|
|
NM_000162.5(GCK):c.483+2_483+16del
|
rs1583601110
|
|
NM_000162.5(GCK):c.483G>A (p.Lys161=)
|
rs193922302
|
|
NM_000162.5(GCK):c.544G>A (p.Val182Met)
|
rs587780345
|
|
NM_000162.5(GCK):c.556C>T (p.Arg186Ter)
|
rs104894006
|
|
NM_000162.5(GCK):c.562G>A (p.Ala188Thr)
|
rs751279776
|
|
NM_000162.5(GCK):c.608T>C (p.Val203Ala)
|
rs1562717053
|
|
NM_000162.5(GCK):c.616A>C (p.Thr206Pro)
|
rs587780346
|
|
NM_000162.5(GCK):c.626C>T (p.Thr209Met)
|
rs1583599303
|
|
NM_000162.5(GCK):c.632T>C (p.Ile211Thr)
|
|
|
NM_000162.5(GCK):c.660C>A (p.Cys220Ter)
|
rs142952813
|
|
NM_000162.5(GCK):c.661G>A (p.Glu221Lys)
|
rs193922317
|
|
NM_000162.5(GCK):c.667G>A (p.Gly223Ser)
|
rs1360415315
|
|
NM_000162.5(GCK):c.679+1G>A
|
rs2128821468
|
|
NM_000162.5(GCK):c.680-1G>A
|
rs1057524905
|
|
NM_000162.5(GCK):c.680-2A>G
|
rs1562715657
|
|
NM_000162.5(GCK):c.683C>T (p.Thr228Met)
|
rs80356655
|
|
NM_000162.5(GCK):c.686del (p.Gly229fs)
|
rs1554335164
|
|
NM_000162.5(GCK):c.763_779dup (p.Phe260fs)
|
rs1554335128
|
|
NM_000162.5(GCK):c.766G>A (p.Glu256Lys)
|
rs769268803
|
|
NM_000162.5(GCK):c.769T>C (p.Trp257Arg)
|
rs1554335135
|
|
NM_000162.5(GCK):c.781G>A (p.Gly261Arg)
|
rs104894008
|
|
NM_000162.5(GCK):c.781G>C (p.Gly261Arg)
|
rs104894008
|
|
NM_000162.5(GCK):c.793G>A (p.Glu265Lys)
|
rs104894011
|
|
NM_000162.5(GCK):c.793G>T (p.Glu265Ter)
|
rs104894011
|
|
NM_000162.5(GCK):c.854del (p.Gly285fs)
|
rs1583596063
|
|
NM_000162.5(GCK):c.863+1G>A
|
rs1376796469
|
|
NM_000162.5(GCK):c.864-1G>A
|
rs1167675604
|
|
NM_000162.5(GCK):c.871A>T (p.Lys291Ter)
|
rs193922335
|
|
NM_000162.5(GCK):c.895G>C (p.Gly299Arg)
|
rs104894009
|
|
NM_000162.5(GCK):c.952G>A (p.Gly318Arg)
|
rs193922340
|
|
NM_000162.5(GCK):c.971T>C (p.Leu324Pro)
|
rs193922341
|
|
NM_000162.5(GCK):c.98T>C (p.Val33Ala)
|
rs1554335954
|
|
NM_000166.6(GJB1):c.-103C>T
|
rs863224971
|
|
NM_000166.6(GJB1):c.-17G>A
|
rs879254047
|
|
NM_000166.6(GJB1):c.112G>A (p.Val38Met)
|
rs879254012
|
|
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)
|
rs116840818
|
|
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys)
|
rs104894819
|
|
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)
|
rs116840819
|
|
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln)
|
rs863224972
|
|
NM_000166.6(GJB1):c.235del (p.Leu79fs)
|
rs2147945607
|
|
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg)
|
rs879254097
|
|
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro)
|
rs1555937122
|
|
NM_000166.6(GJB1):c.283G>A (p.Val95Met)
|
rs104894821
|
|
NM_000166.6(GJB1):c.319del (p.Arg107fs)
|
rs1569215212
|
|
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)
|
rs116840815
|
|
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln)
|
rs863224974
|
|
NM_000166.6(GJB1):c.462T>A (p.Tyr154Ter)
|
|
|
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg)
|
rs104894818
|
|
NM_000166.6(GJB1):c.524dup (p.Asn175fs)
|
rs1569215346
|
|
NM_000166.6(GJB1):c.541G>A (p.Val181Met)
|
rs879253909
|
|
NM_000166.6(GJB1):c.548G>A (p.Arg183His)
|
rs1555937233
|
|
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)
|
rs116840821
|
|
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)
|
rs104894822
|
|
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys)
|
rs1555937270
|
|
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)
|
rs879254099
|
|
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)
|
rs1555937020
|
|
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)
|
rs104894814
|
|
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
|
rs1060501002
|
|
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu)
|
rs587777876
|
|
NM_000166.6(GJB1):c.807_808del (p.Ala271fs)
|
rs1602350012
|
|
NM_000166.6(GJB1):c.843_846del (p.Cys283fs)
|
rs1602350059
|
|
NM_000198.4(HSD3B2):c.558dup (p.Thr187fs)
|
rs770815049
|
|
NM_000198.4(HSD3B2):c.818_819del (p.Lys273fs)
|
rs754609778
|
|
NM_000207.3(INS):c.287G>A (p.Cys96Tyr)
|
rs80356671
|
|
NM_000209.4(PDX1):c.188del (p.Pro63fs)
|
rs193929377
|
|
NM_000209.4(PDX1):c.217dup (p.Leu73fs)
|
rs1445970498
|
|
NM_000217.3(KCNA1):c.1214C>T (p.Pro405Leu)
|
rs1555085798
|
|
NM_000217.3(KCNA1):c.785T>C (p.Ile262Thr)
|
rs2137673584
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter)
|
rs750773622
|
|
NM_000233.4(LHCGR):c.1691A>G (p.Asp564Gly)
|
rs121912540
|
|
NM_000233.4(LHCGR):c.1723A>C (p.Ile575Leu)
|
rs767343825
|
|
NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly)
|
rs121912518
|
|
NM_000252.3(MTM1):c.342_342+4del
|
rs797045717
|
|
NM_000252.3(MTM1):c.969dup (p.Val324fs)
|
rs587783865
|
|
NM_000268.4(NF2):c.1006dup (p.Arg336fs)
|
rs1601643896
|
|
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter)
|
rs74315504
|
|
NM_000268.4(NF2):c.448-2A>G
|
rs2146966211
|
|
NM_000268.4(NF2):c.461_479dup (p.Gly161fs)
|
rs1569293373
|
|
NM_000268.4(NF2):c.586C>T (p.Arg196Ter)
|
rs1555993336
|
|
NM_000268.4(NF2):c.592C>T (p.Arg198Ter)
|
rs1555993345
|
|
NM_000268.4(NF2):c.738_756del (p.Glu247fs)
|
rs1555996156
|
|
NM_000292.3(PHKA2):c.1387C>T (p.Gln463Ter)
|
|
|
NM_000297.4(PKD2):c.1158T>G (p.Tyr386Ter)
|
rs571950456
|
|
NM_000297.4(PKD2):c.1194_1195del (p.Glu400fs)
|
rs1727649413
|
|
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter)
|
rs1578135870
|
|
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)
|
rs121918042
|
|
NM_000297.4(PKD2):c.1671_1678del (p.Phe558fs)
|
rs1553926529
|
|
NM_000297.4(PKD2):c.2019+1G>A
|
rs1553927080
|
|
NM_000297.4(PKD2):c.203dup (p.Ala69fs)
|
rs1187336837
|
|
NM_000297.4(PKD2):c.2159del (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2240+1G>A
|
rs1553927783
|
|
NM_000297.4(PKD2):c.2440G>T (p.Glu814Ter)
|
rs1578148821
|
|
NM_000297.4(PKD2):c.2498del (p.Gly833fs)
|
|
|
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer)
|
rs1560632930
|
|
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)
|
rs755226061
|
|
NM_000297.4(PKD2):c.261G>A (p.Trp87Ter)
|
rs1578111345
|
|
NM_000297.4(PKD2):c.469C>T (p.Arg157Ter)
|
rs1726249249
|
|
NM_000297.4(PKD2):c.514del (p.Asp172fs)
|
rs1232369409
|
|
NM_000297.4(PKD2):c.556C>T (p.Arg186Ter)
|
rs1726258048
|
|
NM_000297.4(PKD2):c.596-1G>T
|
rs1560597874
|
|
NM_000297.4(PKD2):c.602G>A (p.Trp201Ter)
|
rs1726673986
|
|
NM_000297.4(PKD2):c.603G>A (p.Trp201Ter)
|
rs1553924158
|
|
NM_000297.4(PKD2):c.710-2A>G
|
rs2110104722
|
|
NM_000297.4(PKD2):c.783dup (p.Val262fs)
|
rs2110104877
|
|
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)
|
rs200001068
|
|
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter)
|
rs11545341
|
|
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter)
|
rs863225028
|
|
NM_000304.4(PMP22):c.433del (p.Leu145fs)
|
rs1567698872
|
|
NM_000304.4(PMP22):c.434del (p.Leu145fs)
|
rs863225029
|
|
NM_000304.4(PMP22):c.68del (p.Thr23fs)
|
rs1567719258
|
|
NM_000304.4(PMP22):c.79-2A>G
|
rs1597633171
|
|
NM_000314.8(PTEN):c.885_886del (p.Leu295_Cys296insTer)
|
rs1564568350
|
|
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)
|
rs121908552
|
|
NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys)
|
rs80338785
|
|
NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr)
|
rs80338956
|
|
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)
|
rs80338957
|
|
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe)
|
rs121908546
|
|
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)
|
rs527236150
|
|
NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser)
|
rs121908555
|
|
NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val)
|
rs121908549
|
|
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys)
|
rs886043595
|
|
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)
|
rs80338792
|
|
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)
|
rs121908547
|
|
NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro)
|
rs1598405334
|
|
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)
|
rs121908544
|
|
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)
|
rs121908545
|
|
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met)
|
rs121908548
|
|
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)
|
rs80338962
|
|
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile)
|
rs1064794243
|
|
NM_000336.3(SCNN1B):c.1747G>T (p.Glu583Ter)
|
rs1555490554
|
|
NM_000336.3(SCNN1B):c.1789del (p.Arg597fs)
|
rs758629218
|
|
NM_000336.3(SCNN1B):c.1789dup (p.Arg597fs)
|
rs758629218
|
|
NM_000336.3(SCNN1B):c.1847C>T (p.Pro616Leu)
|
rs387906402
|
|
NM_000336.3(SCNN1B):c.1852C>T (p.Pro618Ser)
|
rs536187488
|
|
NM_000336.3(SCNN1B):c.1854dup (p.Asn619fs)
|
rs1963032146
|
|
NM_000344.4(SMN1):c.346A>T (p.Ile116Phe)
|
rs104893933
|
|
NM_000344.4(SMN1):c.43C>T (p.Gln15Ter)
|
|
|
NM_000344.4(SMN1):c.469C>T (p.Gln157Ter)
|
rs1580886973
|
|
NM_000344.4(SMN1):c.510_511del (p.Ser170fs)
|
rs1561499720
|
|
NM_000344.4(SMN1):c.549del (p.Lys184fs)
|
rs2112806512
|
|
NM_000344.4(SMN1):c.683T>A (p.Leu228Ter)
|
rs79784540
|
|
NM_000344.4(SMN1):c.770_780dup (p.Gly261fs)
|
rs1561500847
|
|
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)
|
rs1554066659
|
|
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys)
|
rs104893922
|
|
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile)
|
rs1554066666
|
|
NM_000349.3(STAR):c.201_202del (p.Tyr68fs)
|
rs1563268652
|
|
NM_000349.3(STAR):c.505G>A (p.Glu169Lys)
|
rs747169620
|
|
NM_000349.3(STAR):c.545G>A (p.Arg182His)
|
rs104894086
|
|
NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg)
|
rs1591834223
|
|
NM_000352.6(ABCC8):c.1634del (p.Phe545fs)
|
rs1260178539
|
|
NM_000352.6(ABCC8):c.2222+1G>T
|
rs1554923999
|
|
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)
|
rs755259997
|
|
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)
|
rs1057516317
|
|
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg)
|
rs925231098
|
|
NM_000352.6(ABCC8):c.4151_4152del (p.Lys1384fs)
|
rs1554905145
|
|
NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del)
|
rs387906408
|
|
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)
|
rs387906407
|
|
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)
|
rs137852671
|
|
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln)
|
rs1564869850
|
|
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)
|
rs797045213
|
|
NM_000368.5(TSC1):c.107-1G>A
|
rs1064793494
|
|
NM_000368.5(TSC1):c.1257del (p.Arg420fs)
|
rs118203506
|
|
NM_000368.5(TSC1):c.1264-1G>A
|
rs1554816432
|
|
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs)
|
rs118203527
|
|
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)
|
rs118203542
|
|
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs)
|
rs118203550
|
|
NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs)
|
rs118203557
|
|
NM_000368.5(TSC1):c.1697del (p.Pro566fs)
|
rs118203563
|
|
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
|
|
|
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs)
|
rs118203597
|
|
NM_000368.5(TSC1):c.1959dup (p.Gln654fs)
|
rs118203603
|
|
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)
|
rs75820036
|
|
NM_000368.5(TSC1):c.2023del (p.Asp675fs)
|
rs118203620
|
|
NM_000368.5(TSC1):c.2041+1G>A
|
rs397514842
|
|
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
|
rs118203631
|
|
NM_000368.5(TSC1):c.211-2A>C
|
rs118203352
|
|
NM_000368.5(TSC1):c.2152_2153insAGCC (p.Arg718fs)
|
rs1588303969
|
|
NM_000368.5(TSC1):c.2161del (p.Arg721fs)
|
rs1588303890
|
|
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter)
|
rs118203661
|
|
NM_000368.5(TSC1):c.2249G>A (p.Trp750Ter)
|
rs118203662
|
|
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
|
rs118203682
|
|
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)
|
rs118203707
|
|
NM_000368.5(TSC1):c.2672del (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs)
|
rs118203726
|
|
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter)
|
rs397514871
|
|
NM_000368.5(TSC1):c.271_272del (p.Ser91fs)
|
rs118203360
|
|
NM_000368.5(TSC1):c.451_455delinsTTTC (p.Leu151fs)
|
rs1554819900
|
|
NM_000368.5(TSC1):c.485C>A (p.Ser162Ter)
|
rs1846671628
|
|
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer)
|
rs118203417
|
|
NM_000368.5(TSC1):c.651_663dup (p.Pro222fs)
|
rs1554819509
|
|
NM_000368.5(TSC1):c.661A>T (p.Lys221Ter)
|
rs1564497826
|
|
NM_000368.5(TSC1):c.664-1G>C
|
rs118203423
|
|
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)
|
rs118203427
|
|
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)
|
rs118203434
|
|
NM_000368.5(TSC1):c.737+1G>A
|
rs118203438
|
|
NM_000368.5(TSC1):c.749del (p.Arg249_Leu250insTer)
|
rs118203445
|
|
NM_000368.5(TSC1):c.866C>G (p.Ser289Ter)
|
rs397514867
|
|
NM_000368.5(TSC1):c.901_902del (p.Gln301fs)
|
rs118203464
|
|
NM_000368.5(TSC1):c.973C>T (p.Gln325Ter)
|
rs118203474
|
|
NM_000368.5(TSC1):c.989_990del (p.Leu330fs)
|
rs118203479
|
|
NM_000368.5(TSC1):c.989dup (p.Ser331fs)
|
rs118203478
|
|
NM_000370.3(TTPA):c.366G>A (p.Trp122Ter)
|
rs1554523526
|
|
NM_000370.3(TTPA):c.595G>T (p.Glu199Ter)
|
rs1563678790
|
|
NM_000371.4(TTR):c.157T>C (p.Phe53Leu)
|
rs121918068
|
|
NM_000371.4(TTR):c.200G>C (p.Gly67Ala)
|
rs121918090
|
|
NM_000371.4(TTR):c.210T>A (p.Ser70Arg)
|
rs121918076
|
|
NM_000371.4(TTR):c.233T>A (p.Leu78His)
|
rs121918069
|
|
NM_000371.4(TTR):c.250T>C (p.Phe84Leu)
|
rs121918091
|
|
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)
|
rs121918071
|
|
NM_000371.4(TTR):c.325G>C (p.Glu109Gln)
|
rs121918082
|
|
NM_000371.4(TTR):c.379A>G (p.Ile127Val)
|
rs121918089
|
|
NM_000381.4(MID1):c.1819del (p.Leu607fs)
|
|
|
NM_000383.4(AIRE):c.1265del (p.Pro422fs)
|
rs764878471
|
|
NM_000383.4(AIRE):c.1365G>A (p.Trp455Ter)
|
rs1555873118
|
|
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter)
|
rs1057517241
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000388.4(CASR):c.1376A>G (p.Gln459Arg)
|
rs2107633334
|
|
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln)
|
rs104893716
|
|
NM_000388.4(CASR):c.164C>T (p.Pro55Leu)
|
rs886041154
|
|
NM_000388.4(CASR):c.1732+1G>T
|
rs1576875919
|
|
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)
|
rs104893712
|
|
NM_000388.4(CASR):c.1849del (p.Thr617fs)
|
rs1553768938
|
|
NM_000388.4(CASR):c.2097del (p.Asn700fs)
|
rs1576877427
|
|
NM_000388.4(CASR):c.2101del (p.Arg701fs)
|
rs1553769004
|
|
NM_000388.4(CASR):c.2154G>A (p.Trp718Ter)
|
rs2074932551
|
|
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)
|
rs1057520791
|
|
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)
|
rs104893689
|
|
NM_000388.4(CASR):c.554del (p.Arg185fs)
|
rs193922442
|
|
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)
|
rs2074624616
|
|
NM_000388.4(CASR):c.658C>T (p.Arg220Trp)
|
rs1482119762
|
|
NM_000388.4(CASR):c.662C>T (p.Pro221Leu)
|
rs397514728
|
|
NM_000388.4(CASR):c.679C>T (p.Arg227Ter)
|
rs1085307984
|
|
NM_000388.4(CASR):c.680G>A (p.Arg227Gln)
|
rs28936684
|
|
NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys)
|
rs1589080524
|
|
NM_000399.5(EGR2):c.1142G>A (p.Arg381His)
|
rs281865137
|
|
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)
|
rs104894159
|
|
NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter)
|
|
|
NM_000426.4(LAMA2):c.3924+2T>C
|
rs1554269966
|
|
NM_000426.4(LAMA2):c.9101_9104dup (p.His3035fs)
|
rs398123390
|
|
NM_000435.3(NOTCH3):c.1117G>T (p.Gly373Cys)
|
rs1435305678
|
|
NM_000435.3(NOTCH3):c.1135T>G (p.Cys379Gly)
|
rs1555729105
|
|
NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys)
|
rs863225297
|
|
NM_000435.3(NOTCH3):c.1204T>A (p.Cys402Ser)
|
rs1568360524
|
|
NM_000435.3(NOTCH3):c.1223G>A (p.Cys408Tyr)
|
|
|
NM_000435.3(NOTCH3):c.1241C>G (p.Ser414Cys)
|
rs2145436403
|
|
NM_000435.3(NOTCH3):c.1255T>G (p.Cys419Gly)
|
rs1555729070
|
|
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys)
|
rs1323608032
|
|
NM_000435.3(NOTCH3):c.1261C>T (p.Arg421Cys)
|
rs1555729068
|
|
NM_000435.3(NOTCH3):c.1268A>G (p.Tyr423Cys)
|
rs1555729064
|
|
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys)
|
rs1599391536
|
|
NM_000435.3(NOTCH3):c.1282T>C (p.Cys428Arg)
|
|
|
NM_000435.3(NOTCH3):c.1283G>A (p.Cys428Tyr)
|
rs1568360455
|
|
NM_000435.3(NOTCH3):c.1283G>T (p.Cys428Phe)
|
|
|
NM_000435.3(NOTCH3):c.128G>A (p.Cys43Tyr)
|
rs1555730204
|
|
NM_000435.3(NOTCH3):c.128_129delinsAT (p.Cys43Tyr)
|
|
|
NM_000435.3(NOTCH3):c.1304G>A (p.Cys435Tyr)
|
|
|
NM_000435.3(NOTCH3):c.1337G>T (p.Cys446Phe)
|
rs1568360410
|
|
NM_000435.3(NOTCH3):c.1363T>A (p.Cys455Ser)
|
rs28933698
|
|
NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg)
|
rs28933698
|
|
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr)
|
rs886041513
|
|
NM_000435.3(NOTCH3):c.1369T>G (p.Cys457Gly)
|
|
|
NM_000435.3(NOTCH3):c.1370G>A (p.Cys457Tyr)
|
|
|
NM_000435.3(NOTCH3):c.1426A>T (p.Ser476Cys)
|
rs886054260
|
|
NM_000435.3(NOTCH3):c.1433G>A (p.Cys478Tyr)
|
rs1568360142
|
|
NM_000435.3(NOTCH3):c.1450T>A (p.Cys484Ser)
|
|
|
NM_000435.3(NOTCH3):c.1451G>A (p.Cys484Tyr)
|
rs1313319587
|
|
NM_000435.3(NOTCH3):c.1451G>T (p.Cys484Phe)
|
rs1313319587
|
|
NM_000435.3(NOTCH3):c.145T>C (p.Cys49Arg)
|
rs1555730197
|
|
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly)
|
rs1555730197
|
|
NM_000435.3(NOTCH3):c.146G>A (p.Cys49Tyr)
|
rs193921045
|
|
NM_000435.3(NOTCH3):c.146G>T (p.Cys49Phe)
|
rs193921045
|
|
NM_000435.3(NOTCH3):c.1474A>T (p.Ser492Cys)
|
rs2046899820
|
|
NM_000435.3(NOTCH3):c.1531T>A (p.Cys511Ser)
|
|
|
NM_000435.3(NOTCH3):c.1533C>G (p.Cys511Trp)
|
|
|
NM_000435.3(NOTCH3):c.1547G>T (p.Cys516Phe)
|
rs2046897026
|
|
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)
|
|
|
NM_000435.3(NOTCH3):c.1566C>G (p.Cys522Trp)
|
|
|
NM_000435.3(NOTCH3):c.1597T>C (p.Cys533Arg)
|
rs1555728898
|
|
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys)
|
rs1555730189
|
|
NM_000435.3(NOTCH3):c.1624T>C (p.Cys542Arg)
|
rs2145433361
|
|
NM_000435.3(NOTCH3):c.163T>C (p.Cys55Arg)
|
rs1568363980
|
|
NM_000435.3(NOTCH3):c.1646G>A (p.Cys549Tyr)
|
rs1555728814
|
|
NM_000435.3(NOTCH3):c.1646G>C (p.Cys549Ser)
|
|
|
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr)
|
rs1555730188
|
|
NM_000435.3(NOTCH3):c.1669G>T (p.Gly557Cys)
|
rs1317994194
|
|
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)
|
rs75068032
|
|
NM_000435.3(NOTCH3):c.1736G>A (p.Cys579Tyr)
|
rs2145433000
|
|
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys)
|
rs754554486
|
|
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys)
|
rs764148985
|
|
NM_000435.3(NOTCH3):c.1790G>A (p.Cys597Tyr)
|
rs2046888772
|
|
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg)
|
rs1568359346
|
|
NM_000435.3(NOTCH3):c.1849T>C (p.Cys617Arg)
|
rs2145432499
|
|
NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr)
|
rs758997426
|
|
NM_000435.3(NOTCH3):c.193T>G (p.Cys65Gly)
|
rs1555730177
|
|
NM_000435.3(NOTCH3):c.194G>A (p.Cys65Tyr)
|
rs1555730176
|
|
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser)
|
rs1555730176
|
|
NM_000435.3(NOTCH3):c.1999G>T (p.Gly667Cys)
|
rs376046941
|
|
NM_000435.3(NOTCH3):c.199T>A (p.Cys67Ser)
|
|
|
NM_000435.3(NOTCH3):c.200G>T (p.Cys67Phe)
|
rs1555729615
|
|
NM_000435.3(NOTCH3):c.212_229dup (p.Cys76_Gln77insArgValGlyGluArgCys)
|
rs2145443744
|
|
NM_000435.3(NOTCH3):c.213G>C (p.Trp71Cys)
|
|
|
NM_000435.3(NOTCH3):c.213G>T (p.Trp71Cys)
|
rs28937321
|
|
NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro)
|
rs145069047
|
|
NM_000435.3(NOTCH3):c.226T>A (p.Cys76Ser)
|
rs1555729610
|
|
NM_000435.3(NOTCH3):c.226T>C (p.Cys76Arg)
|
rs1555729610
|
|
NM_000435.3(NOTCH3):c.227G>A (p.Cys76Tyr)
|
rs1568362252
|
|
NM_000435.3(NOTCH3):c.244T>C (p.Cys82Arg)
|
rs2046937845
|
|
NM_000435.3(NOTCH3):c.244T>G (p.Cys82Gly)
|
rs2046937845
|
|
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe)
|
rs1023306013
|
|
NM_000435.3(NOTCH3):c.259T>C (p.Cys87Arg)
|
rs1568362232
|
|
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys)
|
rs1555729604
|
|
NM_000435.3(NOTCH3):c.278G>A (p.Cys93Tyr)
|
|
|
NM_000435.3(NOTCH3):c.2798G>T (p.Cys933Phe)
|
|
|
NM_000435.3(NOTCH3):c.2951T>G (p.Phe984Cys)
|
rs995523352
|
|
NM_000435.3(NOTCH3):c.2953C>T (p.Arg985Cys)
|
rs1188569102
|
|
NM_000435.3(NOTCH3):c.2989T>G (p.Cys997Gly)
|
rs1555727960
|
|
NM_000435.3(NOTCH3):c.3011G>A (p.Cys1004Tyr)
|
rs1555727944
|
|
NM_000435.3(NOTCH3):c.3016C>T (p.Arg1006Cys)
|
rs1555727942
|
|
NM_000435.3(NOTCH3):c.3026G>A (p.Cys1009Tyr)
|
rs1217205469
|
|
NM_000435.3(NOTCH3):c.3040C>T (p.Arg1014Cys)
|
rs376682593
|
|
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg)
|
rs1599382214
|
|
NM_000435.3(NOTCH3):c.3044G>T (p.Cys1015Phe)
|
|
|
NM_000435.3(NOTCH3):c.3064T>A (p.Cys1022Ser)
|
rs2046833026
|
|
NM_000435.3(NOTCH3):c.3065G>T (p.Cys1022Phe)
|
rs1555727930
|
|
NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys)
|
rs1285584068
|
|
NM_000435.3(NOTCH3):c.316T>C (p.Cys106Arg)
|
rs1555729589
|
|
NM_000435.3(NOTCH3):c.3172G>T (p.Gly1058Cys)
|
|
|
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr)
|
rs1064794216
|
|
NM_000435.3(NOTCH3):c.3206A>G (p.Tyr1069Cys)
|
rs1438064001
|
|
NM_000435.3(NOTCH3):c.323G>A (p.Cys108Tyr)
|
rs1555729584
|
|
NM_000435.3(NOTCH3):c.323G>T (p.Cys108Phe)
|
rs1555729584
|
|
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)
|
rs775836288
|
|
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)
|
rs1555727841
|
|
NM_000435.3(NOTCH3):c.3298C>T (p.Arg1100Cys)
|
|
|
NM_000435.3(NOTCH3):c.3409T>C (p.Cys1137Arg)
|
rs2145418962
|
|
NM_000435.3(NOTCH3):c.341-2A>G
|
rs2046935672
|
|
NM_000435.3(NOTCH3):c.349T>C (p.Cys117Arg)
|
rs1555729554
|
|
NM_000435.3(NOTCH3):c.349T>G (p.Cys117Gly)
|
rs1555729554
|
|
NM_000435.3(NOTCH3):c.350G>A (p.Cys117Tyr)
|
rs773539041
|
|
NM_000435.3(NOTCH3):c.350G>T (p.Cys117Phe)
|
rs773539041
|
|
NM_000435.3(NOTCH3):c.353C>G (p.Ser118Cys)
|
rs1469620436
|
|
NM_000435.3(NOTCH3):c.3628C>T (p.Arg1210Cys)
|
|
|
NM_000435.3(NOTCH3):c.368G>T (p.Cys123Phe)
|
rs2046935167
|
|
NM_000435.3(NOTCH3):c.3696C>G (p.Cys1232Trp)
|
|
|
NM_000435.3(NOTCH3):c.3925C>T (p.Arg1309Cys)
|
rs1402176902
|
|
NM_000435.3(NOTCH3):c.3970T>A (p.Cys1324Ser)
|
|
|
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)
|
rs137852642
|
|
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys)
|
rs1174625611
|
|
NM_000435.3(NOTCH3):c.431G>A (p.Cys144Tyr)
|
rs1568361985
|
|
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg)
|
rs1555729510
|
|
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr)
|
rs1236699193
|
|
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys)
|
rs797045014
|
|
NM_000435.3(NOTCH3):c.502T>A (p.Cys168Ser)
|
|
|
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)
|
rs28933696
|
|
NM_000435.3(NOTCH3):c.520T>C (p.Cys174Arg)
|
rs1599394806
|
|
NM_000435.3(NOTCH3):c.521G>A (p.Cys174Tyr)
|
rs1555729486
|
|
NM_000435.3(NOTCH3):c.521G>T (p.Cys174Phe)
|
rs1555729486
|
|
NM_000435.3(NOTCH3):c.548G>A (p.Cys183Tyr)
|
rs1568361851
|
|
NM_000435.3(NOTCH3):c.548G>T (p.Cys183Phe)
|
rs1568361851
|
|
NM_000435.3(NOTCH3):c.553T>G (p.Cys185Gly)
|
rs1568361844
|
|
NM_000435.3(NOTCH3):c.554G>A (p.Cys185Tyr)
|
rs1555729477
|
|
NM_000435.3(NOTCH3):c.554G>T (p.Cys185Phe)
|
rs1555729477
|
|
NM_000435.3(NOTCH3):c.566A>G (p.Tyr189Cys)
|
rs2145441610
|
|
NM_000435.3(NOTCH3):c.580T>A (p.Cys194Ser)
|
rs1568361818
|
|
NM_000435.3(NOTCH3):c.580T>C (p.Cys194Arg)
|
rs1568361818
|
|
NM_000435.3(NOTCH3):c.581G>A (p.Cys194Tyr)
|
rs2145441541
|
|
NM_000435.3(NOTCH3):c.581G>T (p.Cys194Phe)
|
rs2145441541
|
|
NM_000435.3(NOTCH3):c.602G>A (p.Cys201Tyr)
|
rs1555729468
|
|
NM_000435.3(NOTCH3):c.602G>C (p.Cys201Ser)
|
rs1555729468
|
|
NM_000435.3(NOTCH3):c.602G>T (p.Cys201Phe)
|
rs1555729468
|
|
NM_000435.3(NOTCH3):c.634T>A (p.Cys212Ser)
|
rs1555729455
|
|
NM_000435.3(NOTCH3):c.664T>C (p.Cys222Arg)
|
|
|
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr)
|
rs1555729452
|
|
NM_000435.3(NOTCH3):c.665G>C (p.Cys222Ser)
|
|
|
NM_000435.3(NOTCH3):c.671G>A (p.Cys224Tyr)
|
rs1555729451
|
|
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr)
|
rs1599394351
|
|
NM_000435.3(NOTCH3):c.751T>C (p.Cys251Arg)
|
rs1568361608
|
|
NM_000435.3(NOTCH3):c.752G>A (p.Cys251Tyr)
|
rs1555729405
|
|
NM_000435.3(NOTCH3):c.773A>G (p.Tyr258Cys)
|
rs947976672
|
|
NM_000435.3(NOTCH3):c.779G>T (p.Cys260Phe)
|
rs2046928618
|
|
NM_000435.3(NOTCH3):c.811T>C (p.Cys271Arg)
|
rs2046927630
|
|
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr)
|
rs1568361404
|
|
NM_000435.3(NOTCH3):c.955_956delinsTG (p.Ala319Cys)
|
rs2145439810
|
|
NM_000435.3(NOTCH3):c.968G>A (p.Cys323Tyr)
|
|
|
NM_000435.3(NOTCH3):c.986G>A (p.Cys329Tyr)
|
rs2046925963
|
|
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys)
|
rs137852641
|
|
NM_000444.6(PHEX):c.1033C>T (p.Gln345Ter)
|
rs1569391212
|
|
NM_000444.6(PHEX):c.1174-2A>G
|
rs1064796927
|
|
NM_000444.6(PHEX):c.118+1G>T
|
rs1131691731
|
|
NM_000444.6(PHEX):c.1184_1185dup (p.Thr396fs)
|
rs1602307030
|
|
NM_000444.6(PHEX):c.1482+1G>A
|
rs1064793228
|
|
NM_000444.6(PHEX):c.15_16del (p.Gly6fs)
|
rs1569364701
|
|
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter)
|
rs886041224
|
|
NM_000444.6(PHEX):c.1843dup (p.Thr615fs)
|
rs886041366
|
|
NM_000444.6(PHEX):c.187+1G>A
|
rs1556012100
|
|
NM_000444.6(PHEX):c.1899+1G>A
|
rs1556138769
|
|
NM_000444.6(PHEX):c.2071-2A>G
|
rs1936359447
|
|
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter)
|
rs886041226
|
|
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)
|
rs886041227
|
|
NM_000444.6(PHEX):c.263G>A (p.Trp88Ter)
|
rs1569369653
|
|
NM_000444.6(PHEX):c.282del (p.Glu96fs)
|
rs1602251992
|
|
NM_000444.6(PHEX):c.481dup (p.Arg161fs)
|
rs1602274746
|
|
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter)
|
rs866429868
|
|
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile)
|
rs63750215
|
|
NM_000451.4(SHOX):c.352_353del (p.Arg118fs)
|
rs1569493663
|
|
NM_000451.4(SHOX):c.435del (p.Phe145fs)
|
|
|
NM_000451.4(SHOX):c.454C>T (p.Gln152Ter)
|
|
|
NM_000451.4(SHOX):c.518G>A (p.Arg173His)
|
rs746801054
|
|
NM_000451.4(SHOX):c.712_714delinsAG (p.Tyr238fs)
|
rs1556468777
|
|
NM_000451.4(SHOX):c.728del (p.Pro243fs)
|
rs757845999
|
|
NM_000454.5(SOD1):c.115C>G (p.Leu39Val)
|
rs121912432
|
|
NM_000454.5(SOD1):c.131A>G (p.His44Arg)
|
rs121912435
|
|
NM_000454.5(SOD1):c.13G>A (p.Ala5Thr)
|
rs121912444
|
|
NM_000454.5(SOD1):c.140A>G (p.His47Arg)
|
rs121912443
|
|
NM_000454.5(SOD1):c.301G>A (p.Glu101Lys)
|
rs76731700
|
|
NM_000454.5(SOD1):c.346C>G (p.Arg116Gly)
|
rs1301635320
|
|
NM_000454.5(SOD1):c.420C>A (p.Asn140Lys)
|
rs1804449
|
|
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser)
|
rs121912446
|
|
NM_000458.4(HNF1B):c.344+1G>A
|
|
|
NM_000458.4(HNF1B):c.439C>T (p.Gln147Ter)
|
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
|
|
|
NM_000458.4(HNF1B):c.632_635dup (p.Ser213fs)
|
|
|
NM_000458.4(HNF1B):c.789del (p.Ala263_Leu264insTer)
|
|
|
NM_000458.4(HNF1B):c.809+1G>T
|
|
|
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
|
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000475.5(NR0B1):c.463_467delinsTGAGCTCCG (p.Gln155_Thr156delinsTer)
|
rs1555973147
|
|
NM_000475.5(NR0B1):c.625C>T (p.Gln209Ter)
|
rs1569268878
|
|
NM_000475.5(NR0B1):c.986_987delinsA (p.Gly329fs)
|
rs1926565907
|
|
NM_000475.5(NR0B1):c.998_1001dup (p.Pro335fs)
|
rs1926565370
|
|
NM_000475.5(NR0B1):c.99del (p.Leu34fs)
|
rs1569269195
|
|
NM_000484.4(APP):c.2149G>A (p.Val717Ile)
|
rs63750264
|
|
NM_000484.4(APP):c.2149G>C (p.Val717Leu)
|
rs63750264
|
|
NM_000484.4(APP):c.2150T>G (p.Val717Gly)
|
rs63749964
|
|
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs)
|
rs1256580853
|
|
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)
|
rs104894070
|
|
NM_000497.4(CYP11B1):c.780G>A (p.Trp260Ter)
|
rs1554652998
|
|
NM_000497.4(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs)
|
rs775128501
|
|
NM_000500.9(CYP21A2):c.1100G>A (p.Arg367His)
|
|
|
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys)
|
rs72552757
|
|
NM_000500.9(CYP21A2):c.1451G>A (p.Arg484Gln)
|
rs200005406
|
|
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs)
|
rs397509367
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs)
|
rs387906510
|
|
NM_000500.9(CYP21A2):c.332del (p.Gly111fs)
|
rs1582302950
|
|
NM_000500.9(CYP21A2):c.60G>A (p.Trp20Ter)
|
rs746097144
|
|
NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys)
|
rs786204728
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser)
|
rs201552310
|
|
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)
|
rs267606756
|
|
NM_000515.5(GH1):c.291+2T>C
|
rs863223310
|
|
NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln)
|
rs80356611
|
|
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His)
|
rs80356624
|
|
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys)
|
rs587783672
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.5(LDLR):c.1911del (p.Asp638fs)
|
rs867272973
|
|
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)
|
rs387906305
|
|
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp)
|
rs864622732
|
|
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)
|
rs797044845
|
|
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)
|
rs121913585
|
|
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter)
|
rs1571819946
|
|
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)
|
rs121913601
|
|
NM_000530.8(MPZ):c.242A>G (p.His81Arg)
|
rs121913594
|
|
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)
|
rs121913584
|
|
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)
|
rs121913589
|
|
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter)
|
rs1558154149
|
|
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)
|
rs879254038
|
|
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.410G>A (p.Gly137Asp)
|
rs863225025
|
|
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)
|
rs1553259643
|
|
NM_000530.8(MPZ):c.646-10_650del
|
rs863225026
|
|
NM_000530.8(MPZ):c.646dup (p.Thr216fs)
|
rs1553259511
|
|
NM_000530.8(MPZ):c.67+1G>A
|
rs1553260014
|
|
NM_000530.8(MPZ):c.77del (p.Pro26fs)
|
rs1558154754
|
|
NM_000530.8(MPZ):c.90C>G (p.Ile30Met)
|
rs770546306
|
|
NM_000531.6(OTC):c.533C>T (p.Thr178Met)
|
rs72556284
|
|
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)
|
rs121918592
|
|
NM_000540.3(RYR1):c.10627-1G>C
|
rs1568539909
|
|
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)
|
rs118192124
|
|
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)
|
rs193922598
|
|
NM_000545.8(HNF1A):c.1080_1081dup (p.Ser361fs)
|
rs2135845384
|
|
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs)
|
rs1593060890
|
|
NM_000545.8(HNF1A):c.1137del (p.Val380fs)
|
rs1555212248
|
|
NM_000545.8(HNF1A):c.1140dup (p.Ser381fs)
|
rs1593060912
|
|
NM_000545.8(HNF1A):c.1359del (p.Ser454fs)
|
rs1555212359
|
|
NM_000545.8(HNF1A):c.1463_1473del (p.Pro488fs)
|
rs1877180449
|
|
NM_000545.8(HNF1A):c.1483C>T (p.Gln495Ter)
|
rs1565887211
|
|
NM_000545.8(HNF1A):c.1489C>T (p.Gln497Ter)
|
rs1555212396
|
|
NM_000545.8(HNF1A):c.1516_1624-30del
|
rs1592897526
|
|
NM_000545.8(HNF1A):c.160C>T (p.Arg54Ter)
|
rs766956862
|
|
NM_000545.8(HNF1A):c.1641_1642del (p.Glu548fs)
|
rs2135851223
|
|
NM_000545.8(HNF1A):c.1747_1766del (p.Arg583fs)
|
rs1592898255
|
|
NM_000545.8(HNF1A):c.1A>G (p.Met1Val)
|
rs193922592
|
|
NM_000545.8(HNF1A):c.25C>T (p.Gln9Ter)
|
rs2135819387
|
|
NM_000545.8(HNF1A):c.326+2T>G
|
rs1555210478
|
|
NM_000545.8(HNF1A):c.327-3_327-1del
|
rs1593054210
|
|
NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu)
|
rs137853243
|
|
NM_000545.8(HNF1A):c.335del (p.Pro112fs)
|
|
|
NM_000545.8(HNF1A):c.370C>T (p.Gln124Ter)
|
rs1565883507
|
|
NM_000545.8(HNF1A):c.388C>T (p.Gln130Ter)
|
rs1876669962
|
|
NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp)
|
rs137853244
|
|
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln)
|
rs753998395
|
|
NM_000545.8(HNF1A):c.434C>T (p.Ser145Phe)
|
rs1555211426
|
|
NM_000545.8(HNF1A):c.476G>A (p.Arg159Gln)
|
rs1172328722
|
|
NM_000545.8(HNF1A):c.4del (p.Val2fs)
|
rs1555260207
|
|
NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter)
|
rs1057520291
|
|
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter)
|
rs754728827
|
|
NM_000545.8(HNF1A):c.527-1G>A
|
rs1555211904
|
|
NM_000545.8(HNF1A):c.576del (p.Asp192fs)
|
rs2135839075
|
|
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)
|
rs769086289
|
|
NM_000545.8(HNF1A):c.710dup (p.Asn237fs)
|
|
|
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met)
|
rs886039544
|
|
NM_000545.8(HNF1A):c.788G>A (p.Arg263His)
|
rs1057520504
|
|
NM_000545.8(HNF1A):c.790_791del (p.Val264fs)
|
rs1555211999
|
|
NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp)
|
rs886039386
|
|
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys)
|
rs1555212014
|
|
NM_000545.8(HNF1A):c.815G>A (p.Arg272His)
|
rs137853238
|
|
NM_000545.8(HNF1A):c.864del (p.Pro291fs)
|
rs762703502
|
|
NM_000545.8(HNF1A):c.872del (p.Pro291fs)
|
rs587776825
|
|
NM_000545.8(HNF1A):c.872dup (p.Gly292fs)
|
rs587776825
|
|
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter)
|
rs45469896
|
|
NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser)
|
rs45517159
|
|
NM_000548.5(TSC2):c.1257+2T>G
|
rs45509697
|
|
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)
|
rs45517169
|
|
NM_000548.5(TSC2):c.138+2T>C
|
rs137854226
|
|
NM_000548.5(TSC2):c.139G>T (p.Glu47Ter)
|
rs1555495676
|
|
NM_000548.5(TSC2):c.1439_1440del (p.Phe479_Tyr480insTer)
|
|
|
NM_000548.5(TSC2):c.1444-2A>G
|
rs45517174
|
|
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)
|
rs397515297
|
|
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1599+1G>A
|
rs45517182
|
|
NM_000548.5(TSC2):c.1717-12CT[2]
|
rs769094940
|
|
NM_000548.5(TSC2):c.1783C>T (p.Gln595Ter)
|
rs45517199
|
|
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)
|
rs28934872
|
|
NM_000548.5(TSC2):c.1840-2_1841delinsTTTTGA
|
rs1555505742
|
|
NM_000548.5(TSC2):c.1946+1G>A
|
rs397514994
|
|
NM_000548.5(TSC2):c.1959_1960del (p.Gly654fs)
|
rs137854144
|
|
NM_000548.5(TSC2):c.2090dup (p.Leu697fs)
|
rs137854189
|
|
NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter)
|
rs45517213
|
|
NM_000548.5(TSC2):c.2113del (p.Val705fs)
|
rs1555506428
|
|
NM_000548.5(TSC2):c.2180del (p.Pro727fs)
|
rs2088578781
|
|
NM_000548.5(TSC2):c.2221-1G>A
|
rs45517218
|
|
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)
|
rs45517222
|
|
NM_000548.5(TSC2):c.226-2A>G
|
rs45517096
|
|
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter)
|
rs45517226
|
|
NM_000548.5(TSC2):c.2355+2_2355+5del
|
rs137854250
|
|
NM_000548.5(TSC2):c.2356-1G>T
|
rs45481704
|
|
NM_000548.5(TSC2):c.2356-2A>C
|
rs45517229
|
|
NM_000548.5(TSC2):c.2362_2363dup (p.Met788fs)
|
rs2151346636
|
|
NM_000548.5(TSC2):c.2479_2480delinsC (p.Val827fs)
|
rs1555507612
|
|
NM_000548.5(TSC2):c.2639+1G>A
|
rs45517252
|
|
NM_000548.5(TSC2):c.2639+1G>C
|
rs45517252
|
|
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)
|
rs137854155
|
|
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)
|
rs45517099
|
|
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)
|
rs45517258
|
|
NM_000548.5(TSC2):c.2747T>C (p.Leu916Pro)
|
rs137854405
|
|
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter)
|
rs45465195
|
|
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs)
|
rs137854076
|
|
NM_000548.5(TSC2):c.329del (p.Gln110fs)
|
rs1567395826
|
|
NM_000548.5(TSC2):c.337-1G>A
|
rs45517105
|
|
NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs)
|
rs137854314
|
|
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)
|
rs45451497
|
|
NM_000548.5(TSC2):c.3448del (p.Leu1150fs)
|
rs1555511352
|
|
NM_000548.5(TSC2):c.3547_3548delinsTA (p.Leu1183Ter)
|
rs1567504592
|
|
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs)
|
rs137853993
|
|
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter)
|
rs137854210
|
|
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs)
|
rs1555512486
|
|
NM_000548.5(TSC2):c.3791del (p.Pro1264fs)
|
rs137854001
|
|
NM_000548.5(TSC2):c.4005+1G>C
|
rs45517324
|
|
NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter)
|
rs45517327
|
|
NM_000548.5(TSC2):c.4115_4116del (p.Val1372fs)
|
rs137854368
|
|
NM_000548.5(TSC2):c.4147_4163dup (p.Pro1389fs)
|
rs397515009
|
|
NM_000548.5(TSC2):c.4180_4181del (p.Leu1394fs)
|
rs137854363
|
|
NM_000548.5(TSC2):c.4220_4221del (p.Val1407fs)
|
rs1555514179
|
|
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter)
|
rs45517337
|
|
NM_000548.5(TSC2):c.4369del (p.Arg1457fs)
|
rs1567524236
|
|
NM_000548.5(TSC2):c.4494-2A>G
|
rs397514990
|
|
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs)
|
rs137854175
|
|
NM_000548.5(TSC2):c.45dup (p.Lys16Ter)
|
rs397515020
|
|
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter)
|
rs45479192
|
|
NM_000548.5(TSC2):c.4839CAT[1] (p.Ile1614del)
|
rs137854331
|
|
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del)
|
rs137854261
|
|
NM_000548.5(TSC2):c.4925del (p.Gly1642fs)
|
rs137854156
|
|
NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs)
|
rs137854141
|
|
NM_000548.5(TSC2):c.4989+1G>A
|
rs45517386
|
|
NM_000548.5(TSC2):c.4990-1G>A
|
rs1555439650
|
|
NM_000548.5(TSC2):c.5018T>G (p.Val1673Gly)
|
rs397515067
|
|
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5028_5032dup (p.Tyr1678fs)
|
rs1555439753
|
|
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter)
|
rs45517388
|
|
NM_000548.5(TSC2):c.5078del (p.Gly1693fs)
|
rs1555440022
|
|
NM_000548.5(TSC2):c.5126C>G (p.Pro1709Arg)
|
rs45517393
|
|
NM_000548.5(TSC2):c.5160+1G>A
|
rs45517399
|
|
NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter)
|
rs45472701
|
|
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp)
|
rs45517412
|
|
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)
|
rs45507199
|
|
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
NM_000548.5(TSC2):c.5252_5259+19del
|
rs137854397
|
|
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)
|
rs45517414
|
|
NM_000548.5(TSC2):c.5259+1del
|
rs137854317
|
|
NM_000548.5(TSC2):c.5289del (p.Ser1764fs)
|
rs1555441221
|
|
NM_000548.5(TSC2):c.569dup (p.Tyr190Ter)
|
rs137854359
|
|
NM_000548.5(TSC2):c.646G>T (p.Glu216Ter)
|
rs45517118
|
|
NM_000548.5(TSC2):c.648+1G>A
|
rs45488893
|
|
NM_000548.5(TSC2):c.826_827del (p.Met276fs)
|
rs137853977
|
|
NM_000548.5(TSC2):c.848+1G>A
|
rs45466296
|
|
NM_000548.5(TSC2):c.848+2T>G
|
rs1555499119
|
|
NM_000551.4(VHL):c.463+1G>A
|
rs869025657
|
|
NM_000551.4(VHL):c.470C>T (p.Thr157Ile)
|
rs869025660
|
|
NM_000702.4(ATP1A2):c.1091C>T (p.Thr364Met)
|
rs1553244881
|
|
NM_000702.4(ATP1A2):c.2143G>A (p.Gly715Arg)
|
rs1553245771
|
|
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg)
|
rs1553245857
|
|
NM_000702.4(ATP1A2):c.788C>T (p.Thr263Met)
|
rs777400961
|
|
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp)
|
rs386834264
|
|
NM_000747.3(CHRNB1):c.823G>T (p.Glu275Ter)
|
rs1908992563
|
|
NM_000860.6(HPGD):c.218-1G>A
|
|
|
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)
|
rs104894580
|
|
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)
|
rs104894578
|
|
NM_000901.5(NR3C2):c.2194C>T (p.Arg732Ter)
|
|
|
NM_000901.5(NR3C2):c.2457C>A (p.Tyr819Ter)
|
|
|
NM_001005242.3(PKP2):c.1511del (p.Gly504fs)
|
rs794729137
|
|
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)
|
rs267606772
|
|
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)
|
rs587783595
|
|
NM_001009944.3(PKD1):c.10026dup (p.Leu3343fs)
|
rs1567169118
|
|
NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter)
|
rs1567166045
|
|
NM_001009944.3(PKD1):c.10167+25_10167+43del
|
rs1197421698
|
|
NM_001009944.3(PKD1):c.10233del (p.Trp3411fs)
|
rs1596501760
|
|
NM_001009944.3(PKD1):c.10417_10419delinsT (p.Ile3473fs)
|
rs1567164013
|
|
NM_001009944.3(PKD1):c.10618+2T>G
|
rs1555447153
|
|
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs)
|
rs1555447011
|
|
NM_001009944.3(PKD1):c.109del (p.Cys37fs)
|
rs2151858299
|
|
NM_001009944.3(PKD1):c.11017-10C>A
|
rs555703777
|
|
NM_001009944.3(PKD1):c.11058_11077del (p.Ala3687fs)
|
rs1555446611
|
|
NM_001009944.3(PKD1):c.1105_1106del (p.Gln368_Ser369insTer)
|
|
|
NM_001009944.3(PKD1):c.11161dup (p.Glu3721fs)
|
rs2151702333
|
|
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg)
|
rs1555446411
|
|
NM_001009944.3(PKD1):c.11274_11275del (p.Tyr3759fs)
|
rs1555446105
|
|
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter)
|
rs2091619053
|
|
NM_001009944.3(PKD1):c.11344del (p.Asp3782fs)
|
rs2091618928
|
|
NM_001009944.3(PKD1):c.11412-2A>C
|
rs1555445771
|
|
NM_001009944.3(PKD1):c.11453dup (p.Tyr3819fs)
|
rs1567153194
|
|
NM_001009944.3(PKD1):c.11471del (p.Gly3824fs)
|
|
|
NM_001009944.3(PKD1):c.11633_11660dup (p.Phe3888fs)
|
rs2151695288
|
|
NM_001009944.3(PKD1):c.11713-1G>A
|
rs867092741
|
|
NM_001009944.3(PKD1):c.11713-2A>G
|
rs1555445274
|
|
NM_001009944.3(PKD1):c.11930dup (p.Asp3978fs)
|
rs2151686766
|
|
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter)
|
rs1161012209
|
|
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter)
|
rs1555444985
|
|
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)
|
rs199476094
|
|
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)
|
rs1282668884
|
|
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)
|
rs199476095
|
|
NM_001009944.3(PKD1):c.12711C>G (p.Tyr4237Ter)
|
rs906771712
|
|
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)
|
rs1045675831
|
|
NM_001009944.3(PKD1):c.1307_1308del (p.Cys436fs)
|
rs1555458891
|
|
NM_001009944.3(PKD1):c.1538_1539delinsG (p.Pro513fs)
|
|
|
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs)
|
rs1555462438
|
|
NM_001009944.3(PKD1):c.1723-1G>A
|
rs1596582948
|
|
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)
|
rs199476100
|
|
NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs)
|
rs1567210080
|
|
NM_001009944.3(PKD1):c.2867dup (p.Val957fs)
|
rs1567208136
|
|
NM_001009944.3(PKD1):c.3247_3253del (p.Ala1083fs)
|
rs1567205637
|
|
NM_001009944.3(PKD1):c.3296-1G>C
|
rs1567204631
|
|
NM_001009944.3(PKD1):c.3296-4_3304del
|
|
|
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter)
|
rs755084885
|
|
NM_001009944.3(PKD1):c.3601_3620del (p.Ala1201fs)
|
rs778028967
|
|
NM_001009944.3(PKD1):c.3G>A (p.Met1Ile)
|
rs1567233098
|
|
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs)
|
rs1596560540
|
|
NM_001009944.3(PKD1):c.4242G>A (p.Trp1414Ter)
|
|
|
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)
|
rs1567200516
|
|
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter)
|
rs1567200117
|
|
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter)
|
rs202110519
|
|
NM_001009944.3(PKD1):c.5018del (p.Gly1673fs)
|
rs1596556800
|
|
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter)
|
rs2092452489
|
|
NM_001009944.3(PKD1):c.5413del (p.Leu1805fs)
|
rs2092452089
|
|
NM_001009944.3(PKD1):c.5481dup (p.Gln1828fs)
|
rs1596555170
|
|
NM_001009944.3(PKD1):c.5678G>A (p.Trp1893Ter)
|
rs2092446562
|
|
NM_001009944.3(PKD1):c.6193del (p.Ala2065fs)
|
rs1555454620
|
|
NM_001009944.3(PKD1):c.6307C>T (p.Gln2103Ter)
|
rs1555454512
|
|
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)
|
rs1555454411
|
|
NM_001009944.3(PKD1):c.6587_6593dup (p.Gly2199fs)
|
rs1567192229
|
|
NM_001009944.3(PKD1):c.6727C>T (p.Gln2243Ter)
|
rs1567191609
|
|
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs)
|
rs1567191601
|
|
NM_001009944.3(PKD1):c.6759_6760delinsT (p.Glu2254fs)
|
|
|
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter)
|
rs1567191179
|
|
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs)
|
rs1555453872
|
|
NM_001009944.3(PKD1):c.7045del (p.Glu2349fs)
|
rs1596548114
|
|
NM_001009944.3(PKD1):c.7060C>T (p.Gln2354Ter)
|
rs2092400157
|
|
NM_001009944.3(PKD1):c.7113_7114del (p.Ser2372fs)
|
rs1567187389
|
|
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter)
|
rs1555453395
|
|
NM_001009944.3(PKD1):c.7164C>G (p.Tyr2388Ter)
|
rs1555453372
|
|
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)
|
rs1567186946
|
|
NM_001009944.3(PKD1):c.7704-2_7712del
|
rs1555452738
|
|
NM_001009944.3(PKD1):c.7784_7785dup (p.Leu2596fs)
|
rs1567183633
|
|
NM_001009944.3(PKD1):c.7833C>G (p.Tyr2611Ter)
|
rs138871063
|
|
NM_001009944.3(PKD1):c.8017-1G>C
|
rs2092263886
|
|
NM_001009944.3(PKD1):c.8017-1dup
|
rs1555452047
|
|
NM_001009944.3(PKD1):c.8017-2A>G
|
rs1567180640
|
|
NM_001009944.3(PKD1):c.8045C>A (p.Ser2682Ter)
|
rs151308544
|
|
NM_001009944.3(PKD1):c.8162-1G>A
|
rs1555451430
|
|
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter)
|
rs1555451368
|
|
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs)
|
rs2092202856
|
|
NM_001009944.3(PKD1):c.8333del (p.Gly2778fs)
|
rs1567178000
|
|
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)
|
rs1555459108
|
|
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter)
|
rs1567176750
|
|
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter)
|
rs1555450968
|
|
NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs)
|
rs1596525695
|
|
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter)
|
rs750780241
|
|
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter)
|
rs1567174997
|
|
NM_001009944.3(PKD1):c.9013C>T (p.Gln3005Ter)
|
|
|
NM_001009944.3(PKD1):c.9202-10_9218del
|
rs1596521250
|
|
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)
|
rs1567173924
|
|
NM_001009944.3(PKD1):c.924_948delinsTGGAT (p.Asp309fs)
|
rs1555459056
|
|
NM_001009944.3(PKD1):c.9347_9350dup (p.Phe3118fs)
|
rs2151748289
|
|
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)
|
rs1555449635
|
|
NM_001009944.3(PKD1):c.9412dup (p.Val3138fs)
|
rs1567171493
|
|
NM_001009944.3(PKD1):c.9568+1G>T
|
rs2092046394
|
|
NM_001009944.3(PKD1):c.9729dup (p.Arg3244fs)
|
rs2092027387
|
|
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)
|
rs1232180956
|
|
NM_001009944.3(PKD1):c.9800G>A (p.Trp3267Ter)
|
rs1460604173
|
|
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)
|
rs2092020811
|
|
NM_001009944.3(PKD1):c.9885del (p.Asn3295fs)
|
rs1596512492
|
|
NM_001012763.1(GNRHR):c.30_31delinsAA (p.Asn10_Gln11delinsLysLys)
|
rs281865427
|
|
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)
|
rs796053373
|
|
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)
|
rs794727152
|
|
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter)
|
rs387906683
|
|
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
|
rs387906686
|
|
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)
|
rs267606737
|
|
NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn)
|
rs1131691118
|
|
NM_001042492.3(NF1):c.1440del (p.Lys480fs)
|
rs2066786100
|
|
NM_001042492.3(NF1):c.147del (p.Lys48_Tyr49insTer)
|
rs1597626031
|
|
NM_001042492.3(NF1):c.1682_1688dup (p.Asp564fs)
|
rs2144004346
|
|
NM_001042492.3(NF1):c.1721+1G>C
|
rs1131691096
|
|
NM_001042492.3(NF1):c.1721+3A>G
|
rs1057518904
|
|
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)
|
rs786202782
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.1929dup (p.Ser644fs)
|
rs2066991676
|
|
NM_001042492.3(NF1):c.233del (p.Asn78fs)
|
rs1438566555
|
|
NM_001042492.3(NF1):c.2410-1G>C
|
rs1057518792
|
|
NM_001042492.3(NF1):c.288+4A>G
|
rs781459468
|
|
NM_001042492.3(NF1):c.2991-1G>A
|
rs1060500273
|
|
NM_001042492.3(NF1):c.3113+2T>C
|
rs876658997
|
|
NM_001042492.3(NF1):c.3222_3223del (p.Glu1074fs)
|
rs2067122558
|
|
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs)
|
rs1321848637
|
|
NM_001042492.3(NF1):c.3820_3823del (p.Leu1274fs)
|
|
|
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs)
|
rs1555615472
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)
|
rs137854560
|
|
NM_001042492.3(NF1):c.479+1G>A
|
rs1555606137
|
|
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter)
|
rs1131691994
|
|
NM_001042492.3(NF1):c.5067C>A (p.Tyr1689Ter)
|
rs756708811
|
|
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter)
|
rs876657714
|
|
NM_001042492.3(NF1):c.5806_5812+1del
|
rs2069454695
|
|
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)
|
rs137854552
|
|
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter)
|
rs1555534918
|
|
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs)
|
rs1555535032
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
|
rs864622639
|
|
NM_001042492.3(NF1):c.7184del (p.Leu2394_Leu2395insTer)
|
rs2069870374
|
|
NM_001042492.3(NF1):c.7284del (p.Lys2428fs)
|
rs2070077334
|
|
NM_001042492.3(NF1):c.731-2A>G
|
rs1555608924
|
|
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter)
|
rs786202457
|
|
NM_001042492.3(NF1):c.7368del (p.Lys2456fs)
|
|
|
NM_001042492.3(NF1):c.7428del (p.Ile2478fs)
|
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
NM_001042492.3(NF1):c.7778del (p.Leu2593fs)
|
rs1567626919
|
|
NM_001042492.3(NF1):c.7970+1G>A
|
rs1555536773
|
|
NM_001042492.3(NF1):c.889-2A>G
|
rs878853922
|
|
NM_001077365.2(POMT1):c.1298_1299del (p.Thr433fs)
|
|
|
NM_001110556.2(FLNA):c.4599-1G>A
|
rs1057518223
|
|
NM_001110556.2(FLNA):c.623-2A>G
|
|
|
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)
|
rs63749748
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.820C>T (p.Gln274Ter)
|
rs267608525
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His)
|
rs727502818
|
|
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp)
|
rs80338761
|
|
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)
|
rs749890533
|
|
NM_001126108.2(SLC12A3):c.2533del (p.Leu845fs)
|
rs754378340
|
|
NM_001126108.2(SLC12A3):c.2817G>A (p.Trp939Ter)
|
rs760134110
|
|
NM_001126108.2(SLC12A3):c.73del (p.Leu25fs)
|
rs1555499123
|
|
NM_001127222.2(CACNA1A):c.1198+1G>A
|
rs1057518513
|
|
NM_001127222.2(CACNA1A):c.1360C>T (p.Arg454Ter)
|
rs886039668
|
|
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs)
|
rs1555762855
|
|
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)
|
rs121908217
|
|
NM_001127222.2(CACNA1A):c.1781del (p.Lys594fs)
|
rs1600293149
|
|
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter)
|
rs2057948502
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter)
|
rs1555757537
|
|
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg)
|
rs2144980758
|
|
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)
|
rs1064794262
|
|
NM_001127222.2(CACNA1A):c.2557_2586delinsGT (p.Arg853fs)
|
|
|
NM_001127222.2(CACNA1A):c.2723_2738delinsTG (p.Gly908fs)
|
|
|
NM_001127222.2(CACNA1A):c.2734C>T (p.Gln912Ter)
|
rs1555756161
|
|
NM_001127222.2(CACNA1A):c.2955_2958dup (p.Arg987fs)
|
|
|
NM_001127222.2(CACNA1A):c.2996dup (p.Glu1000fs)
|
rs2057721188
|
|
NM_001127222.2(CACNA1A):c.3215del (p.Lys1072fs)
|
rs1555753042
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.3694dup (p.Leu1232fs)
|
rs1568493323
|
|
NM_001127222.2(CACNA1A):c.3914_3936del (p.Gly1305fs)
|
rs2057136334
|
|
NM_001127222.2(CACNA1A):c.3925dup (p.Arg1309fs)
|
rs1568485109
|
|
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter)
|
rs1568473233
|
|
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)
|
rs121908230
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter)
|
rs1568473171
|
|
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp)
|
rs1555745461
|
|
NM_001127222.2(CACNA1A):c.41del (p.Gly14fs)
|
rs1555797179
|
|
NM_001127222.2(CACNA1A):c.439G>A (p.Glu147Lys)
|
rs1568659847
|
|
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)
|
rs121909324
|
|
NM_001127222.2(CACNA1A):c.4663C>T (p.Gln1555Ter)
|
rs1600180457
|
|
NM_001127222.2(CACNA1A):c.4950+3662G>T
|
rs1600152215
|
|
NM_001127222.2(CACNA1A):c.507G>A (p.Trp169Ter)
|
rs2144936148
|
|
NM_001127222.2(CACNA1A):c.5529-1231C>T
|
rs1296262946
|
|
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter)
|
rs886042230
|
|
NM_001127222.2(CACNA1A):c.6028C>T (p.Gln2010Ter)
|
rs1355062450
|
|
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)
|
rs587784438
|
|
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)
|
rs398123764
|
|
NM_001130987.2(DYSF):c.1263_1276+1dup
|
rs863225019
|
|
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)
|
rs202044973
|
|
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs)
|
rs398123767
|
|
NM_001130987.2(DYSF):c.1576G>T (p.Val526Leu)
|
rs886044537
|
|
NM_001130987.2(DYSF):c.167dup (p.Ile58fs)
|
rs863225020
|
|
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter)
|
rs1553543506
|
|
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)
|
rs369607332
|
|
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer)
|
rs766341386
|
|
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs)
|
rs766341386
|
|
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)
|
rs766016391
|
|
NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter)
|
rs727503912
|
|
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)
|
rs786205084
|
|
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs)
|
rs398123796
|
|
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs)
|
rs398123797
|
|
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)
|
rs373585652
|
|
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519
|
|
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn)
|
rs104894520
|
|
NM_001151.4(SLC25A4):c.523del (p.Gln175fs)
|
rs863224209
|
|
NM_001159699.2(FHL1):c.406_409dup (p.Val137fs)
|
rs1569530437
|
|
NM_001159699.2(FHL1):c.640C>T (p.Gln214Ter)
|
rs1603272223
|
|
NM_001164508.2(NEB):c.6184-2A>G
|
rs1575300582
|
|
NM_001165963.4(SCN1A):c.1028+1G>T
|
rs863225030
|
|
NM_001165963.4(SCN1A):c.1034G>A (p.Cys345Tyr)
|
rs1057518243
|
|
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)
|
rs121917927
|
|
NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe)
|
rs121918768
|
|
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys)
|
rs796052973
|
|
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter)
|
rs398123585
|
|
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)
|
rs794726730
|
|
NM_001165963.4(SCN1A):c.2173G>T (p.Glu725Ter)
|
rs1553543828
|
|
NM_001165963.4(SCN1A):c.2177-1G>C
|
rs763400390
|
|
NM_001165963.4(SCN1A):c.249C>A (p.Tyr83Ter)
|
rs863225031
|
|
NM_001165963.4(SCN1A):c.2589+3A>T
|
rs794726775
|
|
NM_001165963.4(SCN1A):c.264+5G>A
|
rs794726762
|
|
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His)
|
rs794726718
|
|
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys)
|
rs121918775
|
|
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
|
|
|
NM_001165963.4(SCN1A):c.302G>T (p.Arg101Leu)
|
rs121917918
|
|
NM_001165963.4(SCN1A):c.3306C>A (p.Tyr1102Ter)
|
rs863225032
|
|
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter)
|
rs368609628
|
|
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)
|
rs794726710
|
|
NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter)
|
rs863225033
|
|
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)
|
rs727504136
|
|
NM_001165963.4(SCN1A):c.3852del (p.Trp1284fs)
|
rs863225034
|
|
NM_001165963.4(SCN1A):c.386T>G (p.Leu129Ter)
|
rs2105909995
|
|
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)
|
rs796053004
|
|
NM_001165963.4(SCN1A):c.4266T>A (p.Tyr1422Ter)
|
rs863225035
|
|
NM_001165963.4(SCN1A):c.4338+1G>T
|
rs1553523138
|
|
NM_001165963.4(SCN1A):c.4476+1A>G
|
rs796053014
|
|
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)
|
rs1085307730
|
|
NM_001165963.4(SCN1A):c.4477-2A>G
|
rs863225036
|
|
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)
|
rs139300715
|
|
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)
|
rs794726752
|
|
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)
|
rs121917993
|
|
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)
|
rs575368466
|
|
NM_001165963.4(SCN1A):c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA (p.Ile1613_Ser1615delinsThrLysTrpTer)
|
|
|
NM_001165963.4(SCN1A):c.4853-1G>C
|
rs1553520530
|
|
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)
|
rs199727342
|
|
NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys)
|
rs121918791
|
|
NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter)
|
rs863225037
|
|
NM_001165963.4(SCN1A):c.559_602+6del
|
rs1553551304
|
|
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)
|
rs779614747
|
|
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser)
|
rs121917937
|
|
NM_001165963.4(SCN1A):c.992dup (p.Leu331fs)
|
rs863225038
|
|
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)
|
rs606231167
|
|
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser)
|
rs796052839
|
|
NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter)
|
rs1239794408
|
|
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter)
|
rs1555985301
|
|
NM_001184880.2(PCDH19):c.169C>T (p.Gln57Ter)
|
rs1367823627
|
|
NM_001184880.2(PCDH19):c.209_210del (p.His70fs)
|
rs1555985799
|
|
NM_001184880.2(PCDH19):c.2122A>T (p.Lys708Ter)
|
rs1569314119
|
|
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter)
|
rs756414485
|
|
NM_001184880.2(PCDH19):c.859G>T (p.Glu287Ter)
|
rs1555985427
|
|
NM_001242896.3(DEPDC5):c.336_337del (p.Asp113fs)
|
rs1085307452
|
|
NM_001267550.2(TTN):c.107377+1G>C
|
rs112188483
|
|
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)
|
rs281864927
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)
|
rs869320740
|
|
NM_001271.4(CHD2):c.2536C>T (p.Arg846Ter)
|
rs2141839141
|
|
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs)
|
rs587777523
|
|
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)
|
rs62653623
|
|
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val)
|
rs879255704
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)
|
rs121908333
|
|
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)
|
rs121908334
|
|
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn)
|
rs104894264
|
|
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)
|
rs398124435
|
|
NM_001370259.2(MEN1):c.1546del (p.Arg516fs)
|
rs767319284
|
|
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs)
|
rs767319284
|
|
NM_001370259.2(MEN1):c.202_206dup (p.Asp70fs)
|
rs730882136
|
|
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)
|
rs587776841
|
|
NM_001370259.2(MEN1):c.402del (p.Phe134fs)
|
rs397515385
|
|
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter)
|
rs1060503789
|
|
NM_001370259.2(MEN1):c.943del (p.Asp315fs)
|
|
|
NM_001370298.3(FGD4):c.1363_1364del (p.Glu455fs)
|
rs771606350
|
|
NM_001371279.1(REEP1):c.161del (p.Phe54fs)
|
|
|
NM_001371279.1(REEP1):c.450dup (p.Phe151fs)
|
rs2104054109
|
|
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu)
|
rs121918262
|
|
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)
|
rs63751273
|
|
NM_001377265.1(MAPT):c.2091+16C>T
|
rs63751011
|
|
NM_001377265.1(MAPT):c.2091+3G>A
|
rs63750013
|
|
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met)
|
rs1571636501
|
|
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)
|
rs557327165
|
|
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg)
|
rs770272088
|
|
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)
|
rs29001571
|
|
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)
|
rs28939680
|
|
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)
|
rs863225022
|
|
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)
|
rs121909112
|
|
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile)
|
rs1422978230
|
|
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu)
|
rs11549191
|
|
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg)
|
rs672601346
|
|
NM_001845.6(COL4A1):c.2291G>A (p.Gly764Asp)
|
rs1566353677
|
|
NM_001845.6(COL4A1):c.2870G>A (p.Gly957Glu)
|
rs2139162781
|
|
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)
|
rs121912938
|
|
NM_001854.4(COL11A1):c.3816+1G>A
|
rs398122828
|
|
NM_001927.4(DES):c.1034T>C (p.Leu345Pro)
|
rs57639980
|
|
NM_001927.4(DES):c.1109T>C (p.Leu370Pro)
|
rs59308628
|
|
NM_001961.4(EEF2):c.1787C>A (p.Pro596His)
|
rs587777052
|
|
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)
|
rs1554338260
|
|
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe)
|
rs1554337974
|
|
NM_002055.5(GFAP):c.262C>T (p.Arg88Cys)
|
rs61622935
|
|
NM_002055.5(GFAP):c.772C>T (p.Arg258Cys)
|
rs797044578
|
|
NM_002087.4(GRN):c.102del (p.Gly35fs)
|
rs63751073
|
|
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter)
|
rs1555611293
|
|
NM_002087.4(GRN):c.1073_1074dup (p.Ala359fs)
|
rs1567887567
|
|
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)
|
rs63751180
|
|
NM_002087.4(GRN):c.1414-2A>G
|
rs1555611412
|
|
NM_002087.4(GRN):c.1420_1421del (p.Cys474fs)
|
rs2048384991
|
|
NM_002087.4(GRN):c.1465_1469dup (p.Lys491fs)
|
rs1555611439
|
|
NM_002087.4(GRN):c.26C>A (p.Ala9Asp)
|
rs63751243
|
|
NM_002087.4(GRN):c.328C>T (p.Arg110Ter)
|
rs63750411
|
|
NM_002087.4(GRN):c.388_391del (p.Gln130fs)
|
rs63749801
|
|
NM_002087.4(GRN):c.592_593del (p.Arg198fs)
|
rs1555611136
|
|
NM_002087.4(GRN):c.599-1G>A
|
rs1555611154
|
|
NM_002087.4(GRN):c.675_676del (p.Ser226fs)
|
rs63751085
|
|
NM_002087.4(GRN):c.768_769dup (p.Gln257fs)
|
rs1567887004
|
|
NM_002087.4(GRN):c.813_816del (p.Thr272fs)
|
rs63749877
|
|
NM_002087.4(GRN):c.898C>T (p.Gln300Ter)
|
rs1555611253
|
|
NM_002087.4(GRN):c.911G>A (p.Trp304Ter)
|
rs63751177
|
|
NM_002693.3(POLG):c.1270_1271del (p.Leu424fs)
|
rs796052908
|
|
NM_002693.3(POLG):c.2828G>A (p.Arg943His)
|
rs1567186613
|
|
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)
|
rs113994099
|
|
NM_002693.3(POLG):c.[1760C>T;752C>T]
|
|
|
NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg)
|
rs121918515
|
|
NM_002739.5(PRKCG):c.413T>A (p.Val138Glu)
|
rs386134168
|
|
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)
|
rs397507539
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)
|
rs121918456
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_002880.4(RAF1):c.776C>T (p.Ser259Phe)
|
rs397516827
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003119.4(SPG7):c.1053dup (p.Gly352fs)
|
rs760818649
|
|
NM_003119.4(SPG7):c.861dup (p.Asn288Ter)
|
rs797046003
|
|
NM_003119.4(SPG7):c.934dup (p.Ala312fs)
|
rs2058330715
|
|
NM_003119.4(SPG7):c.976_987+3del
|
rs878854606
|
|
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del)
|
rs1555487528
|
|
NM_003361.4(UMOD):c.553C>T (p.Arg185Cys)
|
rs1567310155
|
|
NM_003361.4(UMOD):c.610C>G (p.Arg204Gly)
|
rs1567310019
|
|
NM_003361.4(UMOD):c.944G>A (p.Cys315Tyr)
|
rs398123698
|
|
NM_003482.4(KMT2D):c.13090C>T (p.Gln4364Ter)
|
|
|
NM_003482.4(KMT2D):c.16391_16392insAG (p.Leu5465fs)
|
|
|
NM_003482.4(KMT2D):c.3588dup (p.Pro1197fs)
|
|
|
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs)
|
rs886043506
|
|
NM_003482.4(KMT2D):c.9265dup (p.Val3089fs)
|
rs1333678798
|
|
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)
|
rs727503909
|
|
NM_003494.4(DYSF):c.1481-1G>A
|
rs398123770
|
|
NM_003632.3(CNTNAP1):c.984del (p.Phe329fs)
|
|
|
NM_003673.4(TCAP):c.26_33dup (p.Glu12fs)
|
rs778568339
|
|
NM_003919.3(SGCE):c.232+1G>A
|
rs1057517990
|
|
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter)
|
rs121908489
|
|
NM_003919.3(SGCE):c.402C>A (p.Tyr134Ter)
|
rs1554355416
|
|
NM_003919.3(SGCE):c.439dup (p.Ile147fs)
|
rs1584663596
|
|
NM_003919.3(SGCE):c.619del (p.Arg207fs)
|
rs1554352819
|
|
NM_003919.3(SGCE):c.663del (p.Val222fs)
|
rs1562812370
|
|
NM_003919.3(SGCE):c.692del (p.Pro231fs)
|
rs1562812136
|
|
NM_003919.3(SGCE):c.711del (p.Glu238fs)
|
rs1562811980
|
|
NM_003919.3(SGCE):c.826-1G>A
|
|
|
NM_003919.3(SGCE):c.826-2A>G
|
rs1554343985
|
|
NM_003919.3(SGCE):c.835_839del (p.Thr279fs)
|
rs863223283
|
|
NM_003919.3(SGCE):c.838A>T (p.Lys280Ter)
|
rs1562806273
|
|
NM_003919.3(SGCE):c.880dup (p.Ile294fs)
|
rs1562805960
|
|
NM_003919.3(SGCE):c.903C>G (p.Tyr301Ter)
|
|
|
NM_004004.5(GJB2):c.592_600delGTGTCTGGAins17 (p.?)
|
|
|
NM_004004.6(GJB2):c.139G>A (p.Glu47Lys)
|
|
|
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)
|
rs750188782
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.250G>A (p.Val84Met)
|
rs104894409
|
|
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
|
rs104894409
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)
|
rs756484720
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.35dup (p.Val13fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs)
|
rs886037624
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
NM_004004.6(GJB2):c.576del (p.Val193fs)
|
rs747847191
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
NM_004006.2(DMD):c.3606_3607del
|
rs1569562951
|
|
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter)
|
rs398123827
|
|
NM_004006.3(DMD):c.100A>T (p.Lys34Ter)
|
rs1557084280
|
|
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter)
|
rs104894787
|
|
NM_004006.3(DMD):c.10121del (p.Lys3374fs)
|
rs1556037429
|
|
NM_004006.3(DMD):c.10133del (p.Asn3378fs)
|
rs863224975
|
|
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter)
|
rs104894790
|
|
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter)
|
rs398123832
|
|
NM_004006.3(DMD):c.10223+1G>C
|
rs398123834
|
|
NM_004006.3(DMD):c.10412T>G (p.Leu3471Ter)
|
rs863224976
|
|
NM_004006.3(DMD):c.10454del (p.Leu3485fs)
|
rs398123839
|
|
NM_004006.3(DMD):c.10477C>T (p.Gln3493Ter)
|
rs886042495
|
|
NM_004006.3(DMD):c.10504G>T (p.Glu3502Ter)
|
rs863224977
|
|
NM_004006.3(DMD):c.10546G>T (p.Glu3516Ter)
|
rs1569401103
|
|
NM_004006.3(DMD):c.1150-2del
|
rs863224978
|
|
NM_004006.3(DMD):c.1324C>T (p.Gln442Ter)
|
rs863224979
|
|
NM_004006.3(DMD):c.1331+1G>A
|
rs863224980
|
|
NM_004006.3(DMD):c.1388G>A (p.Trp463Ter)
|
rs863224981
|
|
NM_004006.3(DMD):c.1483-1G>C
|
rs863224982
|
|
NM_004006.3(DMD):c.1615C>T (p.Arg539Ter)
|
rs398123865
|
|
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter)
|
rs1060502629
|
|
NM_004006.3(DMD):c.1663C>T (p.Gln555Ter)
|
rs863224983
|
|
NM_004006.3(DMD):c.1683G>A (p.Trp561Ter)
|
rs863224984
|
|
NM_004006.3(DMD):c.1713dup (p.Ser572Ter)
|
rs1601808932
|
|
NM_004006.3(DMD):c.1734del (p.Glu579fs)
|
rs398123866
|
|
NM_004006.3(DMD):c.178C>T (p.Gln60Ter)
|
rs128626233
|
|
NM_004006.3(DMD):c.1973_1992+966del
|
rs1603636515
|
|
NM_004006.3(DMD):c.2111del (p.Pro704fs)
|
rs1569169736
|
|
NM_004006.3(DMD):c.2215G>T (p.Glu739Ter)
|
rs863224985
|
|
NM_004006.3(DMD):c.2257G>T (p.Glu753Ter)
|
rs1557396632
|
|
NM_004006.3(DMD):c.2368C>T (p.Gln790Ter)
|
rs762860653
|
|
NM_004006.3(DMD):c.2407C>T (p.Gln803Ter)
|
rs863224986
|
|
NM_004006.3(DMD):c.2423_2424insA (p.Asn809fs)
|
rs1557383751
|
|
NM_004006.3(DMD):c.2611A>T (p.Lys871Ter)
|
rs863224987
|
|
NM_004006.3(DMD):c.2623-3C>G
|
rs863224988
|
|
NM_004006.3(DMD):c.2644del (p.Asp882fs)
|
rs1557380670
|
|
NM_004006.3(DMD):c.265-2A>G
|
rs863224989
|
|
NM_004006.3(DMD):c.2650C>T (p.Gln884Ter)
|
rs398123903
|
|
NM_004006.3(DMD):c.2791G>T (p.Glu931Ter)
|
rs128625227
|
|
NM_004006.3(DMD):c.2797C>T (p.Gln933Ter)
|
rs756949497
|
|
NM_004006.3(DMD):c.2804-2A>C
|
rs794727357
|
|
NM_004006.3(DMD):c.280del (p.Ile94fs)
|
rs863224990
|
|
NM_004006.3(DMD):c.282dup (p.Gly95fs)
|
rs863224991
|
|
NM_004006.3(DMD):c.2991C>G (p.Tyr997Ter)
|
rs863224992
|
|
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)
|
rs398123929
|
|
NM_004006.3(DMD):c.3172C>T (p.Gln1058Ter)
|
rs2148428322
|
|
NM_004006.3(DMD):c.3217G>T (p.Glu1073Ter)
|
rs398123931
|
|
NM_004006.3(DMD):c.3427C>T (p.Gln1143Ter)
|
rs863224993
|
|
NM_004006.3(DMD):c.3432+1G>A
|
rs398123937
|
|
NM_004006.3(DMD):c.3433-5_3434del
|
rs863224994
|
|
NM_004006.3(DMD):c.355C>T (p.Gln119Ter)
|
rs863224995
|
|
NM_004006.3(DMD):c.358-2A>G
|
rs863224996
|
|
NM_004006.3(DMD):c.3603+1G>T
|
rs1209389771
|
|
NM_004006.3(DMD):c.3804G>A (p.Trp1268Ter)
|
rs1569562573
|
|
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)
|
rs5030730
|
|
NM_004006.3(DMD):c.4240C>T (p.Gln1414Ter)
|
rs863224997
|
|
NM_004006.3(DMD):c.433C>T (p.Arg145Ter)
|
rs128626235
|
|
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter)
|
rs398123953
|
|
NM_004006.3(DMD):c.4606G>T (p.Glu1536Ter)
|
rs863224998
|
|
NM_004006.3(DMD):c.4693C>T (p.Gln1565Ter)
|
rs1603632117
|
|
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter)
|
rs863224999
|
|
NM_004006.3(DMD):c.4758G>A (p.Trp1586Ter)
|
rs1569560477
|
|
NM_004006.3(DMD):c.4918del (p.Thr1640fs)
|
rs863225000
|
|
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)
|
rs398123973
|
|
NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter)
|
rs863225001
|
|
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)
|
rs398123981
|
|
NM_004006.3(DMD):c.5350G>T (p.Glu1784Ter)
|
rs777864641
|
|
NM_004006.3(DMD):c.5353C>T (p.Gln1785Ter)
|
rs398123990
|
|
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter)
|
rs1569559204
|
|
NM_004006.3(DMD):c.5387dup (p.Leu1797fs)
|
rs1603631365
|
|
NM_004006.3(DMD):c.5461G>T (p.Glu1821Ter)
|
rs863225002
|
|
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter)
|
rs1064325
|
|
NM_004006.3(DMD):c.5551C>T (p.Gln1851Ter)
|
rs128625228
|
|
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs)
|
rs863225003
|
|
NM_004006.3(DMD):c.5641C>T (p.Gln1881Ter)
|
rs863225004
|
|
NM_004006.3(DMD):c.5773G>T (p.Glu1925Ter)
|
rs398123997
|
|
NM_004006.3(DMD):c.583C>T (p.Arg195Ter)
|
rs398123999
|
|
NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter)
|
rs773643220
|
|
NM_004006.3(DMD):c.589G>T (p.Glu197Ter)
|
rs1340365803
|
|
NM_004006.3(DMD):c.5917C>T (p.Gln1973Ter)
|
rs863225005
|
|
NM_004006.3(DMD):c.6128_6131del (p.Asp2043fs)
|
rs863225006
|
|
NM_004006.3(DMD):c.627del (p.Ile209fs)
|
rs794727862
|
|
NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter)
|
rs128626250
|
|
NM_004006.3(DMD):c.6423C>A (p.Tyr2141Ter)
|
rs1425702864
|
|
NM_004006.3(DMD):c.6611dup (p.Arg2205fs)
|
rs863225007
|
|
NM_004006.3(DMD):c.6986dup (p.Leu2330fs)
|
rs398124040
|
|
NM_004006.3(DMD):c.7105G>T (p.Glu2369Ter)
|
rs863225008
|
|
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter)
|
rs398124050
|
|
NM_004006.3(DMD):c.7661-2A>G
|
rs1556806356
|
|
NM_004006.3(DMD):c.7755G>A (p.Trp2585Ter)
|
rs762394978
|
|
NM_004006.3(DMD):c.7817G>A (p.Trp2606Ter)
|
rs863225009
|
|
NM_004006.3(DMD):c.8027+2T>A
|
rs863225010
|
|
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)
|
rs863225011
|
|
NM_004006.3(DMD):c.8196del (p.Glu2733fs)
|
rs1556764753
|
|
NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter)
|
rs863225012
|
|
NM_004006.3(DMD):c.8390+2T>C
|
rs863225013
|
|
NM_004006.3(DMD):c.8443C>T (p.Gln2815Ter)
|
rs398124072
|
|
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter)
|
rs398124074
|
|
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter)
|
rs128627256
|
|
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter)
|
rs128625229
|
|
NM_004006.3(DMD):c.8970_8971del (p.Asn2991fs)
|
rs863225014
|
|
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter)
|
rs1569530432
|
|
NM_004006.3(DMD):c.9163+2T>G
|
rs1556539065
|
|
NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs)
|
rs863225015
|
|
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter)
|
rs398124092
|
|
NM_004006.3(DMD):c.94-1G>A
|
rs863225016
|
|
NM_004006.3(DMD):c.9551dup (p.Asn3184fs)
|
rs863225017
|
|
NM_004006.3(DMD):c.9563+1G>A
|
rs886043989
|
|
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter)
|
rs104894797
|
|
NM_004006.3(DMD):c.9880_9881dup (p.Trp3294fs)
|
rs1569427535
|
|
NM_004006.3(DMD):c.9938_9941dup (p.Asn3314delinsLysTer)
|
rs863225018
|
|
NM_004006.3(DMD):c.9G>A (p.Trp3Ter)
|
rs398122853
|
|
NM_004092.4(ECHS1):c.410_411del (p.Tyr137fs)
|
rs777218310
|
|
NM_004115.4(FGF14):c.564del (p.Thr190fs)
|
rs2035456443
|
|
NM_004320.6(ATP2A1):c.1742_1743del (p.Ser581fs)
|
rs1421005631
|
|
NM_004562.3(PRKN):c.155del (p.Asn52fs)
|
rs754809877
|
|
NM_004562.3(PRKN):c.743del (p.Val248fs)
|
rs1790398941
|
|
NM_004562.3(PRKN):c.804T>A (p.Cys268Ter)
|
rs377554392
|
|
NM_004621.6(TRPC6):c.2605C>T (p.Gln869Ter)
|
rs1858817266
|
|
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp)
|
rs869025541
|
|
NM_004646.4(NPHS1):c.1745_1749del (p.Lys582fs)
|
|
|
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs)
|
rs386833921
|
|
NM_004646.4(NPHS1):c.2931T>G (p.Tyr977Ter)
|
|
|
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter)
|
rs139598219
|
|
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle)
|
rs1555763603
|
|
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser)
|
rs74315431
|
|
NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys)
|
rs367916692
|
|
NM_004820.5(CYP7B1):c.650dup (p.Leu217fs)
|
rs1298132281
|
|
NM_004924.6(ACTN4):c.776C>T (p.Thr259Ile)
|
rs121908416
|
|
NM_004960.4(FUS):c.1394-2del
|
rs1555509569
|
|
NM_004960.4(FUS):c.1561C>G (p.Arg521Gly)
|
rs121909668
|
|
NM_004960.4(FUS):c.1574C>T (p.Pro525Leu)
|
rs886041390
|
|
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His)
|
rs104894699
|
|
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His)
|
rs797044872
|
|
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp)
|
rs1555177629
|
|
NM_005249.5(FOXG1):c.506del (p.Gly169fs)
|
rs1452295073
|
|
NM_005271.5(GLUD1):c.956A>G (p.Tyr319Cys)
|
rs1554906133
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005413.4(SIX3):c.794_806+27delinsAGGCCA
|
|
|
NM_005529.7(HSPG2):c.7874-2A>G
|
|
|
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys)
|
rs137852763
|
|
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter)
|
rs122453113
|
|
NM_005633.4(SOS1):c.806T>G (p.Met269Arg)
|
rs137852813
|
|
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)
|
rs387906930
|
|
NM_006121.4(KRT1):c.559C>T (p.Leu187Phe)
|
rs59151464
|
|
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)
|
rs28928910
|
|
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)
|
rs193922688
|
|
NM_006516.4(SLC2A1):c.315del (p.Ser106fs)
|
rs1570593595
|
|
NM_006516.4(SLC2A1):c.634del (p.Arg212fs)
|
rs2124449299
|
|
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile)
|
rs28937597
|
|
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys)
|
rs121908458
|
|
NM_006796.3(AFG3L2):c.1712_1713del (p.Val571fs)
|
rs1598825313
|
|
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del)
|
rs1554985851
|
|
NM_007126.5(VCP):c.464G>A (p.Arg155His)
|
rs121909329
|
|
NM_007262.5(PARK7):c.191_192del (p.Glu64fs)
|
rs1553122929
|
|
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys)
|
rs80356733
|
|
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)
|
rs80356734
|
|
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser)
|
rs4884357
|
|
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln)
|
rs2066044949
|
|
NM_014231.5(VAMP1):c.340+2T>A
|
|
|
NM_014231.5(VAMP1):c.340+2T>G
|
rs878854975
|
|
NM_014231.5(VAMP1):c.66del (p.Gly23fs)
|
|
|
NM_014297.5(ETHE1):c.576C>A (p.Tyr192Ter)
|
|
|
NM_014363.6(SACS):c.2593A>T (p.Lys865Ter)
|
rs1566072001
|
|
NM_014363.6(SACS):c.3168del (p.Asp1057fs)
|
rs2137637783
|
|
NM_014363.6(SACS):c.382_383del (p.Glu128fs)
|
rs757179309
|
|
NM_014363.6(SACS):c.5008_5011del (p.Tyr1670fs)
|
rs2137622518
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
NM_014363.6(SACS):c.699del (p.Asp235fs)
|
rs1415870785
|
|
NM_014363.6(SACS):c.7374del (p.Met2459fs)
|
rs1868615639
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.9332del (p.Asn3111fs)
|
rs1883705830
|
|
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)
|
rs1175545518
|
|
NM_014365.3(HSPB8):c.423G>T (p.Lys141Asn)
|
rs104894345
|
|
NM_014625.4(NPHS2):c.104dup (p.Arg36fs)
|
rs1320543506
|
|
NM_014845.6(FIG4):c.1666dup (p.Thr556fs)
|
rs772320287
|
|
NM_014845.6(FIG4):c.759del (p.Phe254fs)
|
rs764717219
|
|
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)
|
rs80338867
|
|
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)
|
rs119103265
|
|
NM_014874.4(MFN2):c.1126A>G (p.Met376Val)
|
rs863224967
|
|
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter)
|
rs1057517987
|
|
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)
|
rs28940292
|
|
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter)
|
rs863224968
|
|
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro)
|
rs28940293
|
|
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)
|
rs119103263
|
|
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)
|
rs28940291
|
|
NM_014874.4(MFN2):c.314C>T (p.Thr105Met)
|
rs863224069
|
|
NM_014874.4(MFN2):c.494A>G (p.His165Arg)
|
rs863224970
|
|
NM_014874.4(MFN2):c.839G>A (p.Arg280His)
|
rs28940294
|
|
NM_014946.3(SPAST):c.1174-1del
|
rs1573142475
|
|
NM_014946.4(SPAST):c.1027_1031dup (p.Ile344fs)
|
rs1553315323
|
|
NM_014946.4(SPAST):c.1039C>T (p.Gln347Ter)
|
rs1553315329
|
|
NM_014946.4(SPAST):c.1053del (p.Lys351fs)
|
rs2148734539
|
|
NM_014946.4(SPAST):c.1054C>T (p.Gln352Ter)
|
rs1678826101
|
|
NM_014946.4(SPAST):c.1140_1141dup (p.Phe381fs)
|
|
|
NM_014946.4(SPAST):c.1167_1168del (p.Met390fs)
|
rs1553316843
|
|
NM_014946.4(SPAST):c.1168A>G (p.Met390Val)
|
rs797044850
|
|
NM_014946.4(SPAST):c.1173+1G>A
|
rs1060502226
|
|
NM_014946.4(SPAST):c.1174-1G>C
|
rs1553317024
|
|
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)
|
rs1553317025
|
|
NM_014946.4(SPAST):c.1209_1212del (p.Phe403fs)
|
rs1553317029
|
|
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val)
|
rs587777757
|
|
NM_014946.4(SPAST):c.1224dup (p.Ala409fs)
|
rs1558331940
|
|
NM_014946.4(SPAST):c.1238C>A (p.Ser413Ter)
|
rs1553317045
|
|
NM_014946.4(SPAST):c.1245del (p.Lys414_Tyr415insTer)
|
rs863224513
|
|
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe)
|
rs1060502227
|
|
NM_014946.4(SPAST):c.1286_1287dup (p.Ala430fs)
|
rs1553318177
|
|
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter)
|
rs786204126
|
|
NM_014946.4(SPAST):c.1304_1310dup (p.Ile438fs)
|
|
|
NM_014946.4(SPAST):c.1322-1G>T
|
rs1365753930
|
|
NM_014946.4(SPAST):c.1322-30_1322-2del
|
rs1553318205
|
|
NM_014946.4(SPAST):c.1344T>A (p.Cys448Ter)
|
rs2148753955
|
|
NM_014946.4(SPAST):c.1359_1360dup (p.Glu454fs)
|
rs1384312757
|
|
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)
|
rs878854990
|
|
NM_014946.4(SPAST):c.139A>T (p.Lys47Ter)
|
rs1553394475
|
|
NM_014946.4(SPAST):c.1413+1G>A
|
rs1553318276
|
|
NM_014946.4(SPAST):c.1413+1G>T
|
rs1553318276
|
|
NM_014946.4(SPAST):c.1413+5G>A
|
rs1553318282
|
|
NM_014946.4(SPAST):c.1413+6T>C
|
rs1553318284
|
|
NM_014946.4(SPAST):c.1414-2A>G
|
|
|
NM_014946.4(SPAST):c.1468C>T (p.Gln490Ter)
|
rs1553318336
|
|
NM_014946.4(SPAST):c.1468del (p.Gln490fs)
|
|
|
NM_014946.4(SPAST):c.1493+1G>A
|
rs1553318351
|
|
NM_014946.4(SPAST):c.1494-2A>C
|
rs1218081251
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_014946.4(SPAST):c.1536+1G>T
|
rs1553319095
|
|
NM_014946.4(SPAST):c.1536+2T>C
|
|
|
NM_014946.4(SPAST):c.156T>A (p.Tyr52Ter)
|
rs1553394497
|
|
NM_014946.4(SPAST):c.1579del (p.Ser527fs)
|
|
|
NM_014946.4(SPAST):c.1586T>A (p.Leu529Ter)
|
rs1558340832
|
|
NM_014946.4(SPAST):c.1601del (p.Leu534fs)
|
rs1553319318
|
|
NM_014946.4(SPAST):c.1617-2A>G
|
rs1553319524
|
|
NM_014946.4(SPAST):c.165C>G (p.Tyr55Ter)
|
|
|
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp)
|
rs864622179
|
|
NM_014946.4(SPAST):c.167dup (p.Leu57fs)
|
|
|
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter)
|
rs121908518
|
|
NM_014946.4(SPAST):c.1688-1G>A
|
rs1573174147
|
|
NM_014946.4(SPAST):c.1688-2A>G
|
rs587777752
|
|
NM_014946.4(SPAST):c.1701del (p.Glu567fs)
|
|
|
NM_014946.4(SPAST):c.1741C>T (p.Arg581Ter)
|
rs778023258
|
|
NM_014946.4(SPAST):c.1774del (p.Lys591_Ile592insTer)
|
rs1680185365
|
|
NM_014946.4(SPAST):c.238C>T (p.Gln80Ter)
|
rs1676403099
|
|
NM_014946.4(SPAST):c.334G>T (p.Glu112Ter)
|
rs1553394603
|
|
NM_014946.4(SPAST):c.340G>T (p.Glu114Ter)
|
rs1553394608
|
|
NM_014946.4(SPAST):c.364C>T (p.Gln122Ter)
|
rs1233469782
|
|
NM_014946.4(SPAST):c.447_451del (p.Tyr149_Lys151delinsTer)
|
rs1677532605
|
|
NM_014946.4(SPAST):c.451_454del (p.Lys151fs)
|
rs1677532829
|
|
NM_014946.4(SPAST):c.465del (p.Glu155fs)
|
rs863224514
|
|
NM_014946.4(SPAST):c.517del (p.Arg173fs)
|
|
|
NM_014946.4(SPAST):c.695_717dup (p.Thr240delinsPheGlnLysGluLysThrProTer)
|
rs1678753568
|
|
NM_014946.4(SPAST):c.734C>G (p.Ser245Ter)
|
rs1553314896
|
|
NM_014946.4(SPAST):c.746C>G (p.Ser249Ter)
|
rs1553314902
|
|
NM_014946.4(SPAST):c.782C>A (p.Ser261Ter)
|
rs768241184
|
|
NM_014946.4(SPAST):c.807del (p.Ser268_Tyr269insTer)
|
|
|
NM_014946.4(SPAST):c.838C>T (p.Gln280Ter)
|
rs1553314948
|
|
NM_014946.4(SPAST):c.839dup (p.Ser282fs)
|
rs1558323598
|
|
NM_014946.4(SPAST):c.867_868del (p.His289fs)
|
rs1558323659
|
|
NM_014946.4(SPAST):c.870G>C (p.Lys290Asn)
|
|
|
NM_014946.4(SPAST):c.871-2A>T
|
rs1553315169
|
|
NM_014946.4(SPAST):c.911del (p.Pro304fs)
|
|
|
NM_014946.4(SPAST):c.911dup (p.Thr305fs)
|
rs1553315188
|
|
NM_014946.4(SPAST):c.928A>T (p.Lys310Ter)
|
rs1678806430
|
|
NM_015046.7(SETX):c.5222dup (p.Asp1742fs)
|
rs730882209
|
|
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)
|
rs750959420
|
|
NM_015046.7(SETX):c.5547_5548+2del
|
rs1554813128
|
|
NM_015046.7(SETX):c.6292C>T (p.Arg2098Ter)
|
rs770684782
|
|
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)
|
rs750318549
|
|
NM_015346.4(ZFYVE26):c.1933dup (p.Met645fs)
|
rs1566893090
|
|
NM_015346.4(ZFYVE26):c.960G>A (p.Trp320Ter)
|
rs1177577061
|
|
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg)
|
rs1555575860
|
|
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)
|
rs747527726
|
|
NM_015560.2(OPA1):c.985del
|
rs2109039412
|
|
NM_015915.5(ATL1):c.467C>T (p.Thr156Ile)
|
rs137852657
|
|
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)
|
rs119476046
|
|
NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer)
|
rs794729637
|
|
NM_017668.3(NDE1):c.684_685del (p.Pro229fs)
|
rs756206942
|
|
NM_017780.4(CHD7):c.2740G>T (p.Glu914Ter)
|
rs1586389368
|
|
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter)
|
rs886040991
|
|
NM_017780.4(CHD7):c.5405-17G>A
|
rs794727423
|
|
NM_017780.4(CHD7):c.5693T>G (p.Leu1898Ter)
|
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_018075.5(ANO10):c.1056dup (p.Glu353Ter)
|
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_018075.5(ANO10):c.1585G>T (p.Glu529Ter)
|
|
|
NM_018075.5(ANO10):c.473-2A>G
|
rs1553724533
|
|
NM_018075.5(ANO10):c.96del (p.Glu33fs)
|
rs758937084
|
|
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)
|
rs121434591
|
|
NM_020247.5(COQ8A):c.1660-1G>A
|
rs1395498196
|
|
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs)
|
rs764847439
|
|
NM_020247.5(COQ8A):c.638_645del (p.Arg213fs)
|
rs886042265
|
|
NM_020451.3(SELENON):c.713dup (p.Asn238fs)
|
rs368104077
|
|
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)
|
rs76262710
|
|
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)
|
rs77503355
|
|
NM_020975.6(RET):c.1900T>G (p.Cys634Gly)
|
rs75076352
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
NM_020975.6(RET):c.2410G>T (p.Val804Leu)
|
rs79658334
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)
|
rs397514494
|
|
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)
|
rs387906904
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)
|
rs758026634
|
|
NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln)
|
rs1554887097
|
|
NM_022455.5(NSD1):c.3541_3544del (p.Glu1181fs)
|
|
|
NM_022464.5(SIL1):c.212dup (p.His71fs)
|
|
|
NM_022489.4(INF2):c.658G>A (p.Glu220Lys)
|
rs530391015
|
|
NM_023110.3(FGFR1):c.36_42dup (p.Thr15fs)
|
rs1563627742
|
|
NM_023110.3(FGFR1):c.821del (p.Glu274fs)
|
rs1554562081
|
|
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)
|
rs28937903
|
|
NM_024301.5(FKRP):c.941C>T (p.Thr314Met)
|
rs398124395
|
|
NM_024426.6(WT1):c.1315C>T (p.Arg439Cys)
|
rs121907910
|
|
NM_024426.6(WT1):c.1316G>A (p.Arg439His)
|
rs121907901
|
|
NM_024426.6(WT1):c.1349A>G (p.His450Arg)
|
rs1851851609
|
|
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)
|
rs121907900
|
|
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)
|
rs121907903
|
|
NM_024426.6(WT1):c.1447+5G>A
|
rs587776576
|
|
NM_024577.4(SH3TC2):c.957del (p.Phe320fs)
|
rs1554122541
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_025137.4(SPG11):c.1590del (p.His531fs)
|
|
|
NM_025137.4(SPG11):c.202_203dup (p.Leu68fs)
|
rs773773579
|
|
NM_025137.4(SPG11):c.2163dup (p.Ile722fs)
|
rs312262738
|
|
NM_025137.4(SPG11):c.2471del (p.Phe824fs)
|
rs764805516
|
|
NM_025137.4(SPG11):c.2716del (p.Gln906fs)
|
rs312262747
|
|
NM_025137.4(SPG11):c.276_285del (p.Arg93fs)
|
rs747220413
|
|
NM_025137.4(SPG11):c.3320_3321del (p.Cys1107fs)
|
rs1366914385
|
|
NM_025137.4(SPG11):c.3868dup (p.Tyr1290fs)
|
rs1555451491
|
|
NM_025137.4(SPG11):c.4830dup (p.Gln1611fs)
|
|
|
NM_025137.4(SPG11):c.5093T>A (p.Leu1698Ter)
|
rs1462607878
|
|
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)
|
rs147713329
|
|
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs)
|
rs312262784
|
|
NM_030962.4(SBF2):c.1053+2T>C
|
rs1554977189
|
|
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter)
|
rs120074139
|
|
NM_030962.4(SBF2):c.548T>A (p.Leu183Ter)
|
rs1554990103
|
|
NM_030962.4(SBF2):c.619+1G>A
|
rs1565150234
|
|
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs)
|
rs1562921605
|
|
NM_031443.4(CCM2):c.1A>G (p.Met1Val)
|
rs137852842
|
|
NM_031443.4(CCM2):c.295del (p.His99fs)
|
rs1554375233
|
|
NM_031443.4(CCM2):c.30+1G>A
|
rs1562848479
|
|
NM_031443.4(CCM2):c.98_123del (p.His33fs)
|
rs1583901813
|
|
NM_033305.3(VPS13A):c.261_264del (p.Leu88_Leu89insTer)
|
rs1589994032
|
|
NM_033305.3(VPS13A):c.4411C>T (p.Arg1471Ter)
|
rs1193250444
|
|
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)
|
rs116840789
|
|
NM_033380.3(COL4A5):c.1032+1G>C
|
rs1569491753
|
|
NM_033380.3(COL4A5):c.1084G>A (p.Gly362Arg)
|
rs281874656
|
|
NM_033380.3(COL4A5):c.1093G>A (p.Gly365Arg)
|
rs2147788229
|
|
NM_033380.3(COL4A5):c.1258G>A (p.Gly420Arg)
|
rs1556410266
|
|
NM_033380.3(COL4A5):c.1259G>T (p.Gly420Val)
|
rs281874663
|
|
NM_033380.3(COL4A5):c.1738C>T (p.Gln580Ter)
|
rs281874676
|
|
NM_033380.3(COL4A5):c.2095G>T (p.Gly699Ter)
|
rs1569495049
|
|
NM_033380.3(COL4A5):c.2142dup (p.Lys715fs)
|
rs1603292081
|
|
NM_033380.3(COL4A5):c.2396-1G>C
|
rs886041509
|
|
NM_033380.3(COL4A5):c.2414G>A (p.Gly805Glu)
|
rs1556418210
|
|
NM_033380.3(COL4A5):c.2431G>A (p.Gly811Arg)
|
rs104886182
|
|
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1])
|
rs104886356
|
|
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg)
|
rs281874696
|
|
NM_033380.3(COL4A5):c.2509+1G>A
|
rs1556418287
|
|
NM_033380.3(COL4A5):c.2513T>G (p.Leu838Ter)
|
rs1603297223
|
|
NM_033380.3(COL4A5):c.2538_2539dup (p.Asp847fs)
|
rs1556419800
|
|
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp)
|
rs281874702
|
|
NM_033380.3(COL4A5):c.2767+1G>C
|
rs1603297903
|
|
NM_033380.3(COL4A5):c.3196G>A (p.Gly1066Ser)
|
rs104886219
|
|
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp)
|
rs104886221
|
|
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val)
|
rs104886221
|
|
NM_033380.3(COL4A5):c.3368del (p.Phe1123fs)
|
rs1569504092
|
|
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp)
|
rs1131691795
|
|
NM_033380.3(COL4A5):c.3585del (p.Gly1196fs)
|
rs1569505604
|
|
NM_033380.3(COL4A5):c.3586G>A (p.Gly1196Arg)
|
rs104886244
|
|
NM_033380.3(COL4A5):c.3614G>A (p.Gly1205Asp)
|
rs1556446493
|
|
NM_033380.3(COL4A5):c.3695del (p.Gly1232fs)
|
rs1556446657
|
|
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp)
|
rs104886261
|
|
NM_033380.3(COL4A5):c.3940C>T (p.Gln1314Ter)
|
rs2147975189
|
|
NM_033380.3(COL4A5):c.404G>A (p.Gly135Asp)
|
rs1556403086
|
|
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs)
|
rs1556453276
|
|
NM_033380.3(COL4A5):c.4087+1G>A
|
rs587776401
|
|
NM_033380.3(COL4A5):c.4106del (p.Gly1369fs)
|
rs1569507535
|
|
NM_033380.3(COL4A5):c.465+1_465+5del
|
rs1556403276
|
|
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)
|
rs281874743
|
|
NM_033380.3(COL4A5):c.4707-1G>C
|
rs1556462917
|
|
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)
|
rs104886303
|
|
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg)
|
rs1556404027
|
|
NM_033380.3(COL4A5):c.611_612del (p.Gly204fs)
|
rs281874759
|
|
NM_033380.3(COL4A5):c.781-1G>A
|
rs1603283547
|
|
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter)
|
rs104886071
|
|
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg)
|
rs104886073
|
|
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)
|
rs104886079
|
|
NM_033380.3(COL4A5):c.935del (p.Pro312fs)
|
rs1556407078
|
|
NM_033507.2(GCK):c.488del
|
rs1246464603
|
|
NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu)
|
rs149278319
|
|
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)
|
rs121908375
|
|
NM_130837.3(OPA1):c.1035+2del
|
rs1577226484
|
|
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter)
|
rs761460379
|
|
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)
|
rs398124303
|
|
NM_130837.3(OPA1):c.1150-1G>A
|
rs879255510
|
|
NM_130837.3(OPA1):c.1377_1377+4del
|
rs1577242473
|
|
NM_130837.3(OPA1):c.1389dup (p.Gly464fs)
|
rs1553877912
|
|
NM_130837.3(OPA1):c.1714G>T (p.Glu572Ter)
|
rs748215343
|
|
NM_130837.3(OPA1):c.1734del (p.Gln579fs)
|
rs1560377736
|
|
NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg)
|
rs398124298
|
|
NM_130837.3(OPA1):c.1834C>T (p.Arg612Ter)
|
rs398124299
|
|
NM_130837.3(OPA1):c.1849C>T (p.Gln617Ter)
|
|
|
NM_130837.3(OPA1):c.2140C>T (p.Gln714Ter)
|
|
|
NM_130837.3(OPA1):c.2287del (p.Ser763fs)
|
rs1219753329
|
|
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter)
|
rs863224906
|
|
NM_130837.3(OPA1):c.2406del (p.Phe802fs)
|
rs1553785025
|
|
NM_130837.3(OPA1):c.2499G>A (p.Trp833Ter)
|
rs1553785338
|
|
NM_130837.3(OPA1):c.2520+1G>A
|
rs1553785362
|
|
NM_130837.3(OPA1):c.256del (p.Arg86fs)
|
rs1553871618
|
|
NM_130837.3(OPA1):c.2631del (p.Glu877fs)
|
|
|
NM_130837.3(OPA1):c.2661+1G>T
|
rs794727392
|
|
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter)
|
rs794727405
|
|
NM_130837.3(OPA1):c.2751C>G (p.Tyr917Ter)
|
rs1577327315
|
|
NM_130837.3(OPA1):c.2779-2A>G
|
|
|
NM_130837.3(OPA1):c.2787C>A (p.Cys929Ter)
|
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_130837.3(OPA1):c.2987_2988del (p.Lys996fs)
|
rs886043136
|
|
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)
|
rs879255560
|
|
NM_130837.3(OPA1):c.3013_3019dup (p.Phe1007Ter)
|
rs1553797598
|
|
NM_130837.3(OPA1):c.448+1G>A
|
|
|
NM_130837.3(OPA1):c.800_801del (p.Lys267fs)
|
rs794727804
|
|
NM_130837.3(OPA1):c.804_805del (p.Lys269fs)
|
rs863224142
|
|
NM_130837.3(OPA1):c.868C>T (p.Arg290Ter)
|
rs761743852
|
|
NM_130837.3(OPA1):c.93_96dup (p.Leu33fs)
|
rs1728761079
|
|
NM_130837.3(OPA1):c.959_962del (p.Ile320fs)
|
rs1064794208
|
|
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)
|
rs387906492
|
|
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)
|
rs104894490
|
|
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs)
|
rs886041327
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_145239.3(PRRT2):c.916_934del (p.Gly305_Ala306insTer)
|
rs2142428932
|
|
NM_152263.4(TPM3):c.503G>A (p.Arg168His)
|
rs121964852
|
|
NM_153766.3(KCNJ1):c.1001dup (p.His335fs)
|
rs768286324
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)
|
rs56984562
|
|
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)
|
rs56793579
|
|
NM_170707.4(LMNA):c.1961dup (p.Thr655fs)
|
rs863225024
|
|
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)
|
rs121912496
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln)
|
rs118192200
|
|
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)
|
rs727503974
|
|
NM_173500.4(TTBK2):c.1232dup (p.Asn412fs)
|
rs2140770415
|
|
NM_173500.4(TTBK2):c.2983del (p.Leu995fs)
|
rs2140591830
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs)
|
rs606231131
|
|
NM_173660.5(DOK7):c.1358dup (p.Leu454fs)
|
rs775544277
|
|
NM_175914.5(HNF4A):c.1052_1053dup (p.Leu352fs)
|
rs2063787705
|
|
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)
|
rs587777732
|
|
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)
|
rs1555813319
|
|
NM_175914.5(HNF4A):c.224+1G>A
|
rs1600707958
|
|
NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs)
|
rs193922471
|
|
NM_175914.5(HNF4A):c.319+2T>C
|
rs1600710669
|
|
NM_175914.5(HNF4A):c.421C>T (p.Arg141Ter)
|
rs137853335
|
|
NM_175914.5(HNF4A):c.50-1G>A
|
|
|
NM_175914.5(HNF4A):c.724del (p.Val242fs)
|
rs1555816642
|
|
NM_175914.5(HNF4A):c.745G>T (p.Glu249Ter)
|
rs781364316
|
|
NM_175914.5(HNF4A):c.763C>T (p.Gln255Ter)
|
rs137853334
|
|
NM_175914.5(HNF4A):c.968del (p.Gln323fs)
|
rs1555817851
|
|
NM_181882.3(PRX):c.2787del (p.Lys930fs)
|
rs754521978
|
|
NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs)
|
rs1555800610
|
|
NM_182961.2(SYNE1):c.24979del
|
rs1562984446
|
|
NM_182961.4(SYNE1):c.12361_12362delinsG (p.Lys4121fs)
|
|
|
NM_182961.4(SYNE1):c.13861dup (p.Thr4621fs)
|
rs1563123183
|
|
NM_182961.4(SYNE1):c.14204del (p.Gln4735fs)
|
rs1764145184
|
|
NM_182961.4(SYNE1):c.14212G>T (p.Glu4738Ter)
|
rs1563118316
|
|
NM_182961.4(SYNE1):c.1562C>G (p.Ser521Ter)
|
rs1593379577
|
|
NM_182961.4(SYNE1):c.16085_16092del (p.Ile5362fs)
|
rs1554440887
|
|
NM_182961.4(SYNE1):c.16390-2A>G
|
rs759460806
|
|
NM_182961.4(SYNE1):c.19046_19048delinsGA (p.Ser6349_Ala6350delinsTer)
|
rs2153628887
|
|
NM_182961.4(SYNE1):c.1941dup (p.Arg648fs)
|
rs775516009
|
|
NM_182961.4(SYNE1):c.21531del (p.Asp7178fs)
|
rs2153465555
|
|
NM_182961.4(SYNE1):c.21975_21976delinsAT (p.Asp7325_Gln7326delinsGluTer)
|
|
|
NM_182961.4(SYNE1):c.23492del (p.Glu7831fs)
|
rs1554491478
|
|
NM_182961.4(SYNE1):c.23869del (p.Cys7957fs)
|
|
|
NM_182961.4(SYNE1):c.25119+1G>A
|
rs1164612098
|
|
NM_182961.4(SYNE1):c.3842del (p.Lys1281fs)
|
rs1554709875
|
|
NM_182961.4(SYNE1):c.4939C>T (p.Gln1647Ter)
|
rs1554681651
|
|
NM_182961.4(SYNE1):c.560G>A (p.Trp187Ter)
|
|
|
NM_182961.4(SYNE1):c.8885del (p.Val2962fs)
|
rs750544827
|
|
NM_182961.4(SYNE1):c.9082C>T (p.Arg3028Ter)
|
rs369163343
|
|
NM_194454.3(KRIT1):c.1084del (p.Ala362fs)
|
rs1554518541
|
|
NM_194454.3(KRIT1):c.1255-2A>G
|
rs1795437460
|
|
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter)
|
rs886039402
|
|
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)
|
rs267607203
|
|
NM_194454.3(KRIT1):c.1849G>T (p.Glu617Ter)
|
rs1554503116
|
|
NM_194454.3(KRIT1):c.1967del (p.Ile656fs)
|
|
|
NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter)
|
rs866982998
|
|
NM_194454.3(KRIT1):c.486-1G>A
|
rs1554529341
|
|
NM_198578.4(LRRK2):c.4321C>G (p.Arg1441Gly)
|
rs33939927
|
|
NM_198904.4(GABRG2):c.1228G>T (p.Glu410Ter)
|
rs1561662283
|
|
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)
|
rs397518021
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
NM_213599.3(ANO5):c.989dup (p.Leu330fs)
|
rs398124626
|
|
Single allele
|
|
|