NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00129
|
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00126
|
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)
|
rs142609245
|
0.00116
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00086
|
NM_006579.3(EBP):c.511C>T (p.Arg171Cys)
|
rs141925556
|
0.00064
|
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)
|
rs34946978
|
0.00053
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His)
|
rs148312697
|
0.00043
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)
|
rs201857437
|
0.00038
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
NM_015836.4(WARS2):c.938A>T (p.Lys313Met)
|
rs145867327
|
0.00035
|
NM_015202.5(KATNIP):c.1730G>A (p.Trp577Ter)
|
rs200353633
|
0.00032
|
NM_001953.5(TYMP):c.622G>A (p.Val208Met)
|
rs121913039
|
0.00027
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)
|
rs199589947
|
0.00025
|
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)
|
rs144812594
|
0.00023
|
NM_020361.5(CPA6):c.931C>T (p.Arg311Ter)
|
rs139145929
|
0.00023
|
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)
|
rs142063461
|
0.00022
|
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)
|
rs141949212
|
0.00021
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_018451.5(CENPJ):c.1263G>C (p.Gln421His)
|
rs201088712
|
0.00020
|
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)
|
rs138680796
|
0.00019
|
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val)
|
rs587777778
|
0.00019
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp)
|
rs142143752
|
0.00017
|
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)
|
rs9332964
|
0.00016
|
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter)
|
rs200800978
|
0.00016
|
NM_004562.3(PRKN):c.337_376del (p.Pro113fs)
|
rs771529549
|
0.00016
|
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)
|
rs121907932
|
0.00016
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr)
|
rs147054690
|
0.00015
|
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)
|
rs148032587
|
0.00014
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_000540.3(RYR1):c.2654G>A (p.Arg885His)
|
rs370634440
|
0.00013
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro)
|
rs376103979
|
0.00013
|
NM_005186.4(CAPN1):c.1605+5G>A
|
rs375817528
|
0.00012
|
NM_005373.3(MPL):c.391+5G>C
|
rs752453717
|
0.00012
|
NM_017872.5(THG1L):c.164T>C (p.Val55Ala)
|
rs201920319
|
0.00012
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln)
|
rs200069592
|
0.00011
|
NM_000666.3(ACY1):c.480_493dup (p.His165fs)
|
rs769746453
|
0.00011
|
NM_005373.3(MPL):c.769C>T (p.Arg257Cys)
|
rs121913611
|
0.00011
|
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)
|
rs751459058
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_178857.6(RP1L1):c.3925G>T (p.Gly1309Ter)
|
rs758831525
|
0.00011
|
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)
|
rs574034197
|
0.00009
|
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)
|
rs765779905
|
0.00009
|
NM_015681.6(B9D1):c.341+2T>C
|
rs143149764
|
0.00009
|
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)
|
rs79746977
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln)
|
rs375305567
|
0.00008
|
NM_018116.4(MSTO1):c.836G>A (p.Arg279His)
|
rs563943670
|
0.00008
|
NM_001379500.1(COL18A1):c.928+2T>C
|
rs907713687
|
0.00007
|
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)
|
rs104894178
|
0.00007
|
NM_054012.4(ASS1):c.805G>A (p.Val269Met)
|
rs370595480
|
0.00007
|
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00006
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg)
|
rs587784543
|
0.00006
|
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)
|
rs377177061
|
0.00006
|
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)
|
rs150401343
|
0.00006
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg)
|
rs201442000
|
0.00006
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)
|
rs121918169
|
0.00005
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)
|
rs397515398
|
0.00005
|
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val)
|
rs774521989
|
0.00005
|
NM_007254.4(PNKP):c.968C>T (p.Thr323Met)
|
rs372148913
|
0.00005
|
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)
|
rs121918550
|
0.00005
|
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp)
|
rs373971613
|
0.00005
|
NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met)
|
rs578189699
|
0.00005
|
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)
|
rs199922550
|
0.00005
|
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)
|
rs587783318
|
0.00004
|
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter)
|
rs759372918
|
0.00004
|
NM_000144.5(FXN):c.389G>T (p.Gly130Val)
|
rs104894107
|
0.00004
|
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser)
|
rs119481079
|
0.00004
|
NM_000197.2(HSD17B3):c.599C>T (p.Ala200Val)
|
rs142236065
|
0.00004
|
NM_000197.2(HSD17B3):c.614T>A (p.Val205Glu)
|
rs372027264
|
0.00004
|
NM_000237.3(LPL):c.662T>C (p.Ile221Thr)
|
rs118204061
|
0.00004
|
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)
|
rs757286784
|
0.00004
|
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn)
|
rs67767715
|
0.00004
|
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)
|
rs62645916
|
0.00004
|
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His)
|
rs545689324
|
0.00004
|
NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln)
|
rs139552940
|
0.00004
|
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu)
|
rs587784326
|
0.00004
|
NM_004268.5(MED17):c.571C>T (p.Arg191Trp)
|
rs587780394
|
0.00004
|
NM_014321.4(ORC6):c.235T>A (p.Tyr79Asn)
|
rs200089121
|
0.00004
|
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter)
|
rs756198077
|
0.00004
|
NM_017775.4(TTC19):c.583C>T (p.Gln195Ter)
|
rs764720544
|
0.00004
|
NM_018062.4(FANCL):c.472-1G>C
|
rs768814501
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
|
rs386834180
|
0.00004
|
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)
|
rs386834182
|
0.00004
|
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys)
|
rs387906847
|
0.00004
|
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)
|
rs199422297
|
0.00004
|
NM_198525.3(KIF7):c.328+2T>G
|
rs781752990
|
0.00004
|
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter)
|
rs778865255
|
0.00003
|
NM_000212.3(ITGB3):c.1985G>A (p.Arg662His)
|
rs369443204
|
0.00003
|
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)
|
rs780296175
|
0.00003
|
NM_000352.6(ABCC8):c.2921-9G>A
|
rs757171524
|
0.00003
|
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr)
|
rs766068851
|
0.00003
|
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)
|
rs769279368
|
0.00003
|
NM_001083961.2(WDR62):c.3335+3A>G
|
rs587784554
|
0.00003
|
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg)
|
rs587779732
|
0.00003
|
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu)
|
rs375009168
|
0.00003
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile)
|
rs766665118
|
0.00003
|
NM_015599.3(PGM3):c.-2-194C>T
|
rs753019951
|
0.00003
|
NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val)
|
rs748872789
|
0.00003
|
NM_016188.5(ACTL6B):c.652T>C (p.Tyr218His)
|
rs747962927
|
0.00003
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
NM_020549.5(CHAT):c.620G>A (p.Arg207His)
|
rs764497513
|
0.00003
|
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)
|
rs121908639
|
0.00003
|
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val)
|
rs749085322
|
0.00002
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
NM_000096.4(CP):c.1948G>A (p.Gly650Arg)
|
rs776936158
|
0.00002
|
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)
|
rs142833057
|
0.00002
|
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg)
|
rs797045839
|
0.00002
|
NM_000322.5(PRPH2):c.625G>A (p.Val209Ile)
|
rs753657349
|
0.00002
|
NM_000370.3(TTPA):c.552G>A (p.Thr184=)
|
rs181109321
|
0.00002
|
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe)
|
rs760040670
|
0.00002
|
NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg)
|
rs72551348
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)
|
rs774637975
|
0.00002
|
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg)
|
rs121908681
|
0.00002
|
NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln)
|
rs387906828
|
0.00002
|
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter)
|
rs201239579
|
0.00002
|
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)
|
rs372855769
|
0.00002
|
NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser)
|
rs771786550
|
0.00002
|
NM_013382.7(POMT2):c.1006+5G>A
|
rs587780422
|
0.00002
|
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys)
|
rs587780423
|
0.00002
|
NM_015450.3(POT1):c.1164-1G>A
|
rs866612394
|
0.00002
|
NM_016222.4(DDX41):c.1187T>C (p.Ile396Thr)
|
rs747072227
|
0.00002
|
NM_016222.4(DDX41):c.773C>T (p.Pro258Leu)
|
rs1289634533
|
0.00002
|
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp)
|
rs140246430
|
0.00002
|
NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser)
|
rs587783733
|
0.00002
|
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys)
|
rs1247205097
|
0.00002
|
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)
|
rs774290802
|
0.00002
|
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg)
|
rs587779736
|
0.00002
|
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)
|
rs202064195
|
0.00001
|
NM_000047.3(ARSL):c.337C>T (p.Leu113Phe)
|
rs145946864
|
0.00001
|
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu)
|
rs1057521115
|
0.00001
|
NM_000051.4(ATM):c.1838T>G (p.Val613Gly)
|
rs762018538
|
0.00001
|
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs)
|
rs1060501610
|
0.00001
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp)
|
rs797045402
|
0.00001
|
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala)
|
rs587780291
|
0.00001
|
NM_000135.4(FANCA):c.2621G>C (p.Arg874Thr)
|
rs780114543
|
0.00001
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
NM_000162.5(GCK):c.1120G>C (p.Val374Leu)
|
rs1415041911
|
0.00001
|
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)
|
rs759072800
|
0.00001
|
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)
|
rs1085307455
|
0.00001
|
NM_000162.5(GCK):c.787T>C (p.Ser263Pro)
|
rs193922331
|
0.00001
|
NM_000162.5(GCK):c.908G>A (p.Arg303Gln)
|
rs1312678560
|
0.00001
|
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln)
|
rs962041031
|
0.00001
|
NM_000271.5(NPC1):c.2956G>A (p.Gly986Ser)
|
rs1364834942
|
0.00001
|
NM_000317.3(PTS):c.347A>G (p.Asp116Gly)
|
rs104894279
|
0.00001
|
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro)
|
rs797045206
|
0.00001
|
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)
|
rs757650373
|
0.00001
|
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)
|
rs193922401
|
0.00001
|
NM_000352.6(ABCC8):c.4147G>A (p.Gly1383Arg)
|
rs748233295
|
0.00001
|
NM_000352.6(ABCC8):c.4225A>G (p.Ile1409Val)
|
rs776100468
|
0.00001
|
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)
|
rs72559713
|
0.00001
|
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly)
|
rs61753187
|
0.00001
|
NM_000372.5(TYR):c.635G>A (p.Arg212Lys)
|
rs377209424
|
0.00001
|
NM_000407.5(GP1BB):c.340C>T (p.Arg114Cys)
|
rs587783648
|
0.00001
|
NM_000426.4(LAMA2):c.6520del (p.Asn2173_Val2174insTer)
|
rs776548207
|
0.00001
|
NM_000521.4(HEXB):c.778T>C (p.Tyr260His)
|
rs1453919511
|
0.00001
|
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met)
|
rs1057518775
|
0.00001
|
NM_000525.4(KCNJ11):c.616C>T (p.Arg206Cys)
|
rs775204908
|
0.00001
|
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys)
|
rs752507753
|
0.00001
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00001
|
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
|
rs193922839
|
0.00001
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
NM_000540.3(RYR1):c.3235_3240dup (p.Ser1079_Tyr1080dup)
|
rs797045933
|
0.00001
|
NM_000545.8(HNF1A):c.146C>A (p.Ser49Tyr)
|
rs780298807
|
0.00001
|
NM_000545.8(HNF1A):c.608G>A (p.Arg203His)
|
rs587780357
|
0.00001
|
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser)
|
rs137852874
|
0.00001
|
NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr)
|
rs146312522
|
0.00001
|
NM_001083961.2(WDR62):c.2584G>A (p.Gly862Ser)
|
rs587784548
|
0.00001
|
NM_001083961.2(WDR62):c.359C>A (p.Ser120Tyr)
|
rs587784558
|
0.00001
|
NM_001109809.5(ZFP57):c.770G>A (p.Arg257Gln)
|
rs1362771214
|
0.00001
|
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys)
|
rs1064794263
|
0.00001
|
NM_001164508.2(NEB):c.2211+5G>T
|
rs797045736
|
0.00001
|
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)
|
rs760935667
|
0.00001
|
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser)
|
rs398123591
|
0.00001
|
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro)
|
rs267606717
|
0.00001
|
NM_001195263.2(PDZD7):c.1113del (p.Thr372fs)
|
rs1280689930
|
0.00001
|
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val)
|
rs748759187
|
0.00001
|
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)
|
rs80338855
|
0.00001
|
NM_001360.3(DHCR7):c.821A>G (p.Asn274Ser)
|
rs774275482
|
0.00001
|
NM_001363118.2(SLC52A2):c.505C>T (p.Arg169Cys)
|
rs782345472
|
0.00001
|
NM_001365999.1(SZT2):c.654_655del (p.Asp220fs)
|
rs756942804
|
0.00001
|
NM_001365999.1(SZT2):c.9269G>A (p.Arg3090His)
|
rs374490896
|
0.00001
|
NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg)
|
rs368720062
|
0.00001
|
NM_002241.5(KCNJ10):c.115G>A (p.Val39Met)
|
rs1274663711
|
0.00001
|
NM_002241.5(KCNJ10):c.524G>A (p.Arg175Gln)
|
rs397514673
|
0.00001
|
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)
|
rs138943405
|
0.00001
|
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro)
|
rs121918051
|
0.00001
|
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys)
|
rs756676111
|
0.00001
|
NM_003072.5(SMARCA4):c.3922C>T (p.Arg1308Trp)
|
rs587779750
|
0.00001
|
NM_003119.4(SPG7):c.1552+2dup
|
rs1567928509
|
0.00001
|
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)
|
rs1329063851
|
0.00001
|
NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg)
|
rs752989523
|
0.00001
|
NM_003560.4(PLA2G6):c.1489C>T (p.Leu497Phe)
|
rs587784331
|
0.00001
|
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His)
|
rs535486098
|
0.00001
|
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys)
|
rs587784347
|
0.00001
|
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His)
|
rs587784363
|
0.00001
|
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)
|
rs9809219
|
0.00001
|
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys)
|
rs370479598
|
0.00001
|
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr)
|
rs145639028
|
0.00001
|
NM_006070.6(TFG):c.317G>A (p.Arg106His)
|
rs376971794
|
0.00001
|
NM_013275.6(ANKRD11):c.7750G>A (p.Ala2584Thr)
|
rs150393722
|
0.00001
|
NM_014297.5(ETHE1):c.494A>G (p.Asp165Gly)
|
rs756235299
|
0.00001
|
NM_014704.4(CEP104):c.49del (p.Asp17fs)
|
rs1334483830
|
0.00001
|
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys)
|
rs119475041
|
0.00001
|
NM_014915.3(ANKRD26):c.-126T>C
|
rs1589393792
|
0.00001
|
NM_015166.4(MLC1):c.525+1G>A
|
rs769135961
|
0.00001
|
NM_015665.6(AAAS):c.464G>A (p.Arg155His)
|
rs758440592
|
0.00001
|
NM_016180.5(SLC45A2):c.578T>G (p.Leu193Arg)
|
rs797045970
|
0.00001
|
NM_016188.5(ACTL6B):c.388C>T (p.Arg130Trp)
|
rs779321230
|
0.00001
|
NM_017739.4(POMGNT1):c.652+1G>T
|
rs386834035
|
0.00001
|
NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys)
|
rs751459271
|
0.00001
|
NM_018122.5(DARS2):c.259G>A (p.Asp87Asn)
|
rs1209550754
|
0.00001
|
NM_020247.5(COQ8A):c.854-2A>G
|
rs1338137742
|
0.00001
|
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)
|
rs397509425
|
0.00001
|
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His)
|
rs587784175
|
0.00001
|
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)
|
rs104894682
|
0.00001
|
NM_024306.5(FA2H):c.806G>A (p.Arg269His)
|
rs1429546236
|
0.00001
|
NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter)
|
rs1361547443
|
0.00001
|
NM_025009.5(CEP135):c.3247C>T (p.Arg1083Ter)
|
rs1730945388
|
0.00001
|
NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg)
|
rs797046051
|
0.00001
|
NM_030954.4(RNF170):c.640A>G (p.Ile214Val)
|
rs587780441
|
0.00001
|
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys)
|
rs1426175410
|
0.00001
|
NM_152701.5(ABCA13):c.11473+2T>C
|
rs797045205
|
0.00001
|
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His)
|
rs769611275
|
0.00001
|
NM_153704.6(TMEM67):c.2764+2T>A
|
rs1293481687
|
0.00001
|
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)
|
rs193922479
|
0.00001
|
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)
|
rs1422814635
|
0.00001
|
NM_201525.4(ADGRG1):c.1490T>C (p.Leu497Pro)
|
rs587783654
|
0.00001
|
NM_201525.4(ADGRG1):c.768G>C (p.Glu256Asp)
|
rs532188689
|
0.00001
|
NM_213622.4(STAMBP):c.125A>G (p.Glu42Gly)
|
rs397509387
|
0.00001
|
NM_000023.4(SGCA):c.209C>G (p.Pro70Arg)
|
rs1555568318
|
|
NM_000038.6(APC):c.6230_6236del (p.Thr2077fs)
|
rs2149960139
|
|
NM_000044.6(AR):c.1768+2T>C
|
rs1555982894
|
|
NM_000044.6(AR):c.1823G>A (p.Arg608Gln)
|
rs137852573
|
|
NM_000044.6(AR):c.2090C>A (p.Ser697Tyr)
|
rs1555995842
|
|
NM_000044.6(AR):c.2197G>A (p.Asp733Asn)
|
rs2147530668
|
|
NM_000044.6(AR):c.2668G>T (p.Val890Leu)
|
rs886041133
|
|
NM_000048.4(ASL):c.556C>T (p.Arg186Trp)
|
rs111407265
|
|
NM_000051.4(ATM):c.2571_2572del (p.Leu857_Phe858insTer)
|
rs1555082257
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
NM_000051.4(ATM):c.5011G>T (p.Val1671Phe)
|
rs1057523385
|
|
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)
|
rs587779861
|
|
NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro)
|
rs72554639
|
|
NM_000052.7(ATP7A):c.1996G>A (p.Gly666Arg)
|
rs797045344
|
|
NM_000052.7(ATP7A):c.2172G>T (p.Gln724His)
|
rs797045348
|
|
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp)
|
rs797045350
|
|
NM_000052.7(ATP7A):c.2750T>A (p.Val917Asp)
|
rs797045362
|
|
NM_000052.7(ATP7A):c.2781G>C (p.Lys927Asn)
|
rs797045363
|
|
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)
|
rs797045365
|
|
NM_000052.7(ATP7A):c.3294+1G>T
|
rs797045374
|
|
NM_000052.7(ATP7A):c.3352G>T (p.Gly1118Cys)
|
rs797045376
|
|
NM_000052.7(ATP7A):c.3800A>T (p.Gln1267Leu)
|
rs797045385
|
|
NM_000052.7(ATP7A):c.3801+4A>G
|
rs797045387
|
|
NM_000052.7(ATP7A):c.4123G>A (p.Gly1375Arg)
|
rs797045394
|
|
NM_000052.7(ATP7A):c.4187C>T (p.Ser1396Leu)
|
rs797045396
|
|
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val)
|
rs587783301
|
|
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg)
|
rs397507768
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)
|
rs587780668
|
|
NM_000080.4(CHRNE):c.865C>T (p.Leu289Phe)
|
rs121909511
|
|
NM_000101.4(CYBA):c.246del (p.Phe83fs)
|
rs1439134665
|
|
NM_000102.4(CYP17A1):c.1241C>T (p.Pro414Leu)
|
rs1554879846
|
|
NM_000110.4(DPYD):c.895C>T (p.Gln299Ter)
|
rs2102259303
|
|
NM_000112.4(SLC26A2):c.2124_2125dup (p.Phe709fs)
|
rs1554095433
|
|
NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter)
|
rs1850750513
|
|
NM_000135.4(FANCA):c.523-1G>T
|
rs1477653630
|
|
NM_000135.4(FANCA):c.826+5_826+9del
|
rs797045570
|
|
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)
|
rs730881708
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
NM_000152.5(GAA):c.1952del (p.Gly651fs)
|
rs1567835775
|
|
NM_000152.5(GAA):c.2647-20T>G
|
rs1555603208
|
|
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn)
|
rs1064793134
|
|
NM_000162.5(GCK):c.1112G>T (p.Cys371Phe)
|
rs587780343
|
|
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del)
|
rs1131691505
|
|
NM_000162.5(GCK):c.1147T>C (p.Ser383Pro)
|
rs749298368
|
|
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu)
|
rs777870079
|
|
NM_000162.5(GCK):c.1173C>A (p.Asn391Lys)
|
rs1554334579
|
|
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys)
|
rs1167124132
|
|
NM_000162.5(GCK):c.1229G>A (p.Gly410Asp)
|
rs1554334546
|
|
NM_000162.5(GCK):c.130G>A (p.Gly44Ser)
|
rs267601516
|
|
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu)
|
rs1286804191
|
|
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)
|
rs1131691416
|
|
NM_000162.5(GCK):c.158C>T (p.Ala53Val)
|
rs2128823130
|
|
NM_000162.5(GCK):c.215G>A (p.Gly72Glu)
|
rs2128822720
|
|
NM_000162.5(GCK):c.317del (p.Gln106fs)
|
rs2128822656
|
|
NM_000162.5(GCK):c.356C>A (p.Ala119Asp)
|
rs1176659689
|
|
NM_000162.5(GCK):c.364C>A (p.Leu122Ile)
|
rs1554335616
|
|
NM_000162.5(GCK):c.364C>G (p.Leu122Val)
|
rs1554335616
|
|
NM_000162.5(GCK):c.367T>C (p.Phe123Leu)
|
|
|
NM_000162.5(GCK):c.477C>G (p.Ile159Met)
|
rs1554335567
|
|
NM_000162.5(GCK):c.511T>G (p.Phe171Val)
|
rs2128821636
|
|
NM_000162.5(GCK):c.616A>C (p.Thr206Pro)
|
rs587780346
|
|
NM_000162.5(GCK):c.617C>T (p.Thr206Met)
|
rs1441649062
|
|
NM_000162.5(GCK):c.623C>T (p.Ala208Val)
|
rs746913146
|
|
NM_000162.5(GCK):c.635_637del (p.Ser212del)
|
rs193922314
|
|
NM_000162.5(GCK):c.824G>T (p.Arg275Leu)
|
rs767565869
|
|
NM_000162.5(GCK):c.871A>G (p.Lys291Glu)
|
rs193922335
|
|
NM_000162.5(GCK):c.98T>A (p.Val33Glu)
|
rs1554335954
|
|
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser)
|
rs267606845
|
|
NM_000195.5(HPS1):c.2009T>C (p.Leu670Pro)
|
rs2136078570
|
|
NM_000197.2(HSD17B3):c.221A>C (p.Asn74Thr)
|
rs780178733
|
|
NM_000207.2(INS):c.-152C>A
|
rs748749585
|
|
NM_000207.3(INS):c.103C>G (p.Leu35Val)
|
rs1278232284
|
|
NM_000207.3(INS):c.163C>T (p.Arg55Cys)
|
rs121908261
|
|
NM_000207.3(INS):c.289A>C (p.Thr97Pro)
|
rs2133672927
|
|
NM_000207.3(INS):c.299G>A (p.Cys100Tyr)
|
|
|
NM_000207.3(INS):c.308A>G (p.Tyr103Cys)
|
rs121908277
|
|
NM_000207.3(INS):c.71C>T (p.Ala24Val)
|
rs80356663
|
|
NM_000207.3(INS):c.95G>T (p.Gly32Val)
|
rs2133676747
|
|
NM_000208.4(INSR):c.14del (p.Gly5fs)
|
rs1419070784
|
|
NM_000208.4(INSR):c.3164C>T (p.Ala1055Val)
|
rs1599874183
|
|
NM_000208.4(INSR):c.3234G>A (p.Met1078Ile)
|
rs2144813778
|
|
NM_000208.4(INSR):c.3802_3804del (p.Leu1268del)
|
rs2144790591
|
|
NM_000209.4(PDX1):c.502A>C (p.Asn168His)
|
rs1555241857
|
|
NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg)
|
rs587783750
|
|
NM_000252.3(MTM1):c.1180G>C (p.Asp394His)
|
rs587783760
|
|
NM_000252.3(MTM1):c.1233G>T (p.Trp411Cys)
|
rs587783764
|
|
NM_000252.3(MTM1):c.1234A>G (p.Ile412Val)
|
rs587783765
|
|
NM_000252.3(MTM1):c.1260+5G>A
|
rs587783769
|
|
NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu)
|
rs587783772
|
|
NM_000252.3(MTM1):c.1307C>T (p.Pro436Leu)
|
rs587783774
|
|
NM_000252.3(MTM1):c.1325T>A (p.Ile442Asn)
|
rs587783776
|
|
NM_000252.3(MTM1):c.1328A>C (p.Asp443Ala)
|
rs587783777
|
|
NM_000252.3(MTM1):c.1388T>C (p.Leu463Ser)
|
rs587783787
|
|
NM_000252.3(MTM1):c.1388T>G (p.Leu463Trp)
|
rs587783787
|
|
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys)
|
rs1557414802
|
|
NM_000252.3(MTM1):c.1537_1564delinsAACTGGA (p.Phe513_Leu522delinsAsnTrpIle)
|
rs398123271
|
|
NM_000252.3(MTM1):c.232-16T>G
|
rs2148455901
|
|
NM_000252.3(MTM1):c.342+4A>G
|
rs587783820
|
|
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys)
|
rs587783838
|
|
NM_000252.3(MTM1):c.63+3A>T
|
rs587783844
|
|
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr)
|
rs587783848
|
|
NM_000252.3(MTM1):c.743G>T (p.Gly248Val)
|
rs587783853
|
|
NM_000252.3(MTM1):c.921CTT[1] (p.Phe308del)
|
rs587783862
|
|
NM_000257.4(MYH7):c.4886T>C (p.Leu1629Pro)
|
rs797045730
|
|
NM_000257.4(MYH7):c.4954-15_4958del
|
rs2138640908
|
|
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs)
|
rs1555099541
|
|
NM_000270.4(PNP):c.331del (p.Leu111fs)
|
|
|
NM_000273.3(GPR143):c.682C>T (p.Gln228Ter)
|
rs2083414866
|
|
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg)
|
rs747214535
|
|
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)
|
rs779850564
|
|
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val)
|
rs797045838
|
|
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
|
rs767489236
|
|
NM_000286.3(PEX12):c.910_911del (p.Cys304fs)
|
rs867245161
|
|
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)
|
rs1554333880
|
|
NM_000297.4(PKD2):c.1899-2A>T
|
|
|
NM_000303.3(PMM2):c.448-1_448del
|
rs1414007551
|
|
NM_000303.3(PMM2):c.526G>A (p.Gly176Ser)
|
rs1156500366
|
|
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)
|
rs398123317
|
|
NM_000314.8(PTEN):c.373A>G (p.Lys125Glu)
|
rs1554898127
|
|
NM_000314.8(PTEN):c.394G>A (p.Gly132Ser)
|
rs1859977029
|
|
NM_000314.8(PTEN):c.634+5G>T
|
rs138336847
|
|
NM_000314.8(PTEN):c.764T>A (p.Val255Glu)
|
rs1564566998
|
|
NM_000315.4(PTH):c.46_47delinsAA (p.Ala16Lys)
|
rs2134093283
|
|
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His)
|
rs201175894
|
|
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg)
|
rs1554949242
|
|
NM_000352.6(ABCC8):c.1819G>A (p.Val607Met)
|
|
|
NM_000352.6(ABCC8):c.2116+1G>T
|
rs1554924540
|
|
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met)
|
rs1554924142
|
|
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)
|
rs797045208
|
|
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)
|
rs1554913069
|
|
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro)
|
rs1352191146
|
|
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)
|
rs2133711315
|
|
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu)
|
rs1554905662
|
|
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro)
|
rs2133402479
|
|
NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys)
|
rs1554904936
|
|
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met)
|
rs193922403
|
|
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg)
|
rs1554904107
|
|
NM_000352.6(ABCC8):c.4451G>T (p.Gly1484Val)
|
rs193922405
|
|
NM_000352.6(ABCC8):c.4513G>A (p.Asp1505Asn)
|
rs2133394860
|
|
NM_000352.6(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup)
|
rs797045212
|
|
NM_000352.6(ABCC8):c.4547A>G (p.Glu1516Gly)
|
rs2133393241
|
|
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met)
|
rs193922408
|
|
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala)
|
rs764950519
|
|
NM_000352.6(ABCC8):c.622G>A (p.Glu208Lys)
|
rs2133680513
|
|
NM_000352.6(ABCC8):c.625G>A (p.Asp209Asn)
|
rs2133680501
|
|
NM_000352.6(ABCC8):c.805del (p.Ala269fs)
|
rs1564976749
|
|
NM_000368.5(TSC1):c.1675del (p.Cys559fs)
|
|
|
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr)
|
rs121908872
|
|
NM_000372.5(TYR):c.101A>C (p.Glu34Ala)
|
rs1555083355
|
|
NM_000372.5(TYR):c.1100A>G (p.His367Arg)
|
rs61754384
|
|
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala)
|
rs797046081
|
|
NM_000372.5(TYR):c.446A>G (p.Tyr149Cys)
|
rs797046082
|
|
NM_000372.5(TYR):c.452T>G (p.Ile151Ser)
|
rs747095957
|
|
NM_000372.5(TYR):c.739T>C (p.Cys247Arg)
|
rs367543068
|
|
NM_000376.3(VDR):c.1036G>A (p.Val346Met)
|
rs267607169
|
|
NM_000376.3(VDR):c.910G>A (p.Gly304Arg)
|
rs747349160
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000384.3(APOB):c.11812_11813del (p.Asp3938fs)
|
rs1553382678
|
|
NM_000384.3(APOB):c.13025del (p.Pro4342fs)
|
rs797045253
|
|
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser)
|
rs2107649591
|
|
NM_000388.4(CASR):c.2036T>G (p.Leu679Arg)
|
rs1553768983
|
|
NM_000388.4(CASR):c.2404A>C (p.Asn802His)
|
rs2074937924
|
|
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp)
|
rs193922436
|
|
NM_000388.4(CASR):c.3025C>T (p.Arg1009Ter)
|
rs1256856876
|
|
NM_000388.4(CASR):c.346G>A (p.Ala116Thr)
|
rs104893691
|
|
NM_000406.3(GNRHR):c.156del (p.Phe52fs)
|
rs2109988131
|
|
NM_000430.4(PAFAH1B1):c.1009C>G (p.His337Asp)
|
rs587784236
|
|
NM_000430.4(PAFAH1B1):c.1193G>A (p.Gly398Asp)
|
rs587784247
|
|
NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys)
|
rs587784250
|
|
NM_000430.4(PAFAH1B1):c.503G>A (p.Cys168Tyr)
|
rs200390886
|
|
NM_000430.4(PAFAH1B1):c.569-3del
|
rs797045863
|
|
NM_000430.4(PAFAH1B1):c.671+4A>G
|
rs587784279
|
|
NM_000430.4(PAFAH1B1):c.671+5G>A
|
rs587784280
|
|
NM_000430.4(PAFAH1B1):c.751A>C (p.Ser251Arg)
|
rs587784287
|
|
NM_000430.4(PAFAH1B1):c.899A>G (p.Glu300Gly)
|
rs1555527149
|
|
NM_000430.4(PAFAH1B1):c.900G>A (p.Glu300=)
|
rs587784291
|
|
NM_000430.4(PAFAH1B1):c.900G>C (p.Glu300Asp)
|
rs587784291
|
|
NM_000430.4(PAFAH1B1):c.938C>T (p.Ser313Phe)
|
rs587784293
|
|
NM_000430.4(PAFAH1B1):c.965T>G (p.Met322Arg)
|
rs587784294
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
NM_000463.3(UGT1A1):c.573del (p.Tyr192fs)
|
rs1205477836
|
|
NM_000463.3(UGT1A1):c.609_632del (p.His203_Lys211delinsGln)
|
rs1553620849
|
|
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp)
|
rs72551343
|
|
NM_000463.3(UGT1A1):c.996+2_996+5del
|
rs2126030563
|
|
NM_000487.6(ARSA):c.1492dup (p.Arg498fs)
|
rs774153480
|
|
NM_000516.7(GNAS):c.304G>A (p.Ala102Thr)
|
rs2146178601
|
|
NM_000516.7(GNAS):c.314C>T (p.Thr105Ile)
|
rs767946220
|
|
NM_000516.7(GNAS):c.823A>G (p.Ser275Gly)
|
rs2146285803
|
|
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)
|
rs1057521137
|
|
NM_000525.4(KCNJ11):c.498C>G (p.Cys166Trp)
|
rs587783669
|
|
NM_000525.4(KCNJ11):c.515C>T (p.Ala172Val)
|
rs1426834688
|
|
NM_000525.4(KCNJ11):c.536A>C (p.Glu179Ala)
|
rs587783671
|
|
NM_000525.4(KCNJ11):c.556C>G (p.His186Asp)
|
rs2133380076
|
|
NM_000525.4(KCNJ11):c.866G>C (p.Gly289Ala)
|
rs797045637
|
|
NM_000525.4(KCNJ11):c.866G>T (p.Gly289Val)
|
rs797045637
|
|
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met)
|
rs750414160
|
|
NM_000525.4(KCNJ11):c.944T>C (p.Phe315Ser)
|
rs2133379125
|
|
NM_000528.4(MAN2B1):c.436+1G>A
|
rs2145288922
|
|
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn)
|
rs587784373
|
|
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)
|
rs118192151
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
NM_000540.3(RYR1):c.1901C>G (p.Thr634Arg)
|
rs1555769544
|
|
NM_000540.3(RYR1):c.2870+1G>A
|
rs765241115
|
|
NM_000540.3(RYR1):c.3801dup (p.Cys1268fs)
|
rs587784374
|
|
NM_000540.3(RYR1):c.5910G>C (p.Gln1970His)
|
rs1555780327
|
|
NM_000545.8(HNF1A):c.431T>G (p.Leu144Arg)
|
rs2135832696
|
|
NM_000545.8(HNF1A):c.676_678del (p.Lys226del)
|
rs1555211927
|
|
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met)
|
rs886039544
|
|
NM_000545.8(HNF1A):c.794A>G (p.Tyr265Cys)
|
rs1555212006
|
|
NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp)
|
rs137853245
|
|
NM_000546.6(TP53):c.517G>T (p.Val173Leu)
|
rs876660754
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
|
rs587780073
|
|
NM_000546.6(TP53):c.741_742delinsTT (p.Arg248Trp)
|
rs1555525498
|
|
NM_000546.6(TP53):c.920-1G>C
|
rs587781702
|
|
NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer)
|
rs796053515
|
|
NM_000550.3(TYRP1):c.1145T>C (p.Leu382Pro)
|
rs776174514
|
|
NM_000551.4(VHL):c.593T>C (p.Leu198Pro)
|
rs869025667
|
|
NM_000760.4(CSF3R):c.610C>T (p.Gln204Ter)
|
|
|
NM_000814.6(GABRB3):c.766C>G (p.Leu256Val)
|
rs1555401942
|
|
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn)
|
rs876661151
|
|
NM_000969.5(RPL5):c.506del (p.Gly169fs)
|
rs2100685045
|
|
NM_000969.5(RPL5):c.766_781del (p.Lys256fs)
|
rs2100697037
|
|
NM_001003694.2(BRPF1):c.2398del (p.Asp800fs)
|
rs2125509502
|
|
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys)
|
rs797045412
|
|
NM_001005361.3(DNM2):c.1124T>A (p.Val375Glu)
|
rs587783594
|
|
NM_001005361.3(DNM2):c.1567A>G (p.Arg523Gly)
|
rs587783596
|
|
NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg)
|
rs587783598
|
|
NM_001009944.3(PKD1):c.12244_12245del (p.Leu4082fs)
|
|
|
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del)
|
rs1596550396
|
|
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)
|
rs1596527370
|
|
NM_001009944.3(PKD1):c.8624dup (p.Val2876fs)
|
|
|
NM_001014.5(RPS10):c.292dup (p.Arg98fs)
|
rs1765892950
|
|
NM_001021.6(RPS17):c.1A>G (p.Met1Val)
|
|
|
NM_001022.4(RPS19):c.302G>A (p.Arg101His)
|
rs2123284131
|
|
NM_001022.4(RPS19):c.302G>C (p.Arg101Pro)
|
rs2123284131
|
|
NM_001022.4(RPS19):c.356+3A>C
|
rs1555841379
|
|
NM_001029896.2(WDR45):c.1030A>G (p.Asn344Asp)
|
rs797046100
|
|
NM_001029896.2(WDR45):c.342-3C>G
|
rs2147816332
|
|
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter)
|
rs797046101
|
|
NM_001029896.2(WDR45):c.966dup (p.Val323fs)
|
rs797046105
|
|
NM_001032221.6(STXBP1):c.433T>C (p.Tyr145His)
|
rs587784455
|
|
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg)
|
rs587784453
|
|
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys)
|
rs786205830
|
|
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln)
|
rs797045942
|
|
NM_001040142.2(SCN2A):c.4435C>A (p.Gln1479Lys)
|
rs1553462134
|
|
NM_001040142.2(SCN2A):c.4780T>C (p.Trp1594Arg)
|
rs1057518111
|
|
NM_001040142.2(SCN2A):c.4841T>C (p.Leu1614Pro)
|
rs797045943
|
|
NM_001042413.2(GLIS3):c.728dup (p.Asn244fs)
|
rs2130882939
|
|
NM_001042492.3(NF1):c.3058G>T (p.Glu1020Ter)
|
rs2067091885
|
|
NM_001042492.3(NF1):c.4947del (p.Pro1650fs)
|
rs2151537841
|
|
NM_001048166.1(STIL):c.895T>A (p.Phe299Ile)
|
rs587784452
|
|
NM_001079668.3(NKX2-1):c.635A>C (p.Gln212Pro)
|
rs1555349218
|
|
NM_001079872.2(CUL4B):c.2633G>A (p.Arg878Gln)
|
rs1556173896
|
|
NM_001080510.5(METTL23):c.169_172del (p.His57fs)
|
rs587777644
|
|
NM_001080517.3(SETD5):c.3631+1G>T
|
rs1553640838
|
|
NM_001083961.2(WDR62):c.1312C>T (p.Arg438Cys)
|
rs587784542
|
|
NM_001083961.2(WDR62):c.1963T>A (p.Tyr655Asn)
|
rs2145777243
|
|
NM_001083961.2(WDR62):c.3348del (p.Phe1117fs)
|
rs797046109
|
|
NM_001083962.2(TCF4):c.1165C>T (p.Arg389Cys)
|
rs2145503179
|
|
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln)
|
rs121909121
|
|
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe)
|
rs587784460
|
|
NM_001083962.2(TCF4):c.1760C>T (p.Ala587Val)
|
rs1555710523
|
|
NM_001083962.2(TCF4):c.1840G>C (p.Ala614Pro)
|
rs587784462
|
|
NM_001083962.2(TCF4):c.1871A>C (p.Gln624Pro)
|
rs797046034
|
|
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs)
|
rs797046035
|
|
NM_001083962.2(TCF4):c.759C>G (p.Ser253Arg)
|
rs1555796785
|
|
NM_001083962.2(TCF4):c.990G>A (p.Ser330=)
|
rs587784469
|
|
NM_001098511.3(KIF2A):c.959C>T (p.Thr320Ile)
|
rs1554042050
|
|
NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro)
|
rs199422316
|
|
NM_001100.4(ACTA1):c.413T>A (p.Ile138Asn)
|
rs587780271
|
|
NM_001101.5(ACTB):c.625G>A (p.Val209Met)
|
rs587779777
|
|
NM_001101.5(ACTB):c.64G>A (p.Ala22Thr)
|
rs587780273
|
|
NM_001109809.5(ZFP57):c.722dup (p.Cys241fs)
|
|
|
NM_001110556.2(FLNA):c.319G>A (p.Val107Met)
|
rs2148121877
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly)
|
rs61748403
|
|
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
|
rs606231451
|
|
NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr)
|
rs1060501421
|
|
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg)
|
rs2144980758
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.4043G>C (p.Arg1348Pro)
|
rs1057520918
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
NM_001128159.3(VPS53):c.88-2A>G
|
rs1335346154
|
|
NM_001130438.3(SPTAN1):c.6574A>G (p.Lys2192Glu)
|
rs2131969031
|
|
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu)
|
rs1554769022
|
|
NM_001134407.3(GRIN2A):c.3701del (p.Phe1234fs)
|
rs886041308
|
|
NM_001134673.4(NFIA):c.297dup (p.Pro100fs)
|
rs1553149202
|
|
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg)
|
rs797045224
|
|
NM_001141980.3(TP53BP1):c.*3580_*3581del
|
rs2142896980
|
|
NM_001164508.2(NEB):c.23836-2A>G
|
rs2153104173
|
|
NM_001164508.2(NEB):c.2499del (p.Ala834fs)
|
rs1553564693
|
|
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln)
|
rs121917957
|
|
NM_001165963.4(SCN1A):c.2815C>G (p.His939Asp)
|
rs121918736
|
|
NM_001165963.4(SCN1A):c.3538T>C (p.Cys1180Arg)
|
rs1574069096
|
|
NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly)
|
rs121918751
|
|
NM_001165963.4(SCN1A):c.719T>C (p.Leu240Pro)
|
rs797045941
|
|
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu)
|
rs1553538919
|
|
NM_001184.4(ATR):c.1327A>T (p.Arg443Ter)
|
rs2108485039
|
|
NM_001184.4(ATR):c.3971_3974del (p.Asp1324fs)
|
rs2108399800
|
|
NM_001184.4(ATR):c.5196+1G>A
|
rs1553760567
|
|
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile)
|
rs587784299
|
|
NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter)
|
rs1554965669
|
|
NM_001195553.2(DCX):c.167G>C (p.Arg56Pro)
|
rs587783525
|
|
NM_001195553.2(DCX):c.170T>G (p.Phe57Cys)
|
rs587783526
|
|
NM_001195553.2(DCX):c.185A>G (p.Asp62Gly)
|
rs587783528
|
|
NM_001195553.2(DCX):c.187C>T (p.Arg63Cys)
|
rs587783529
|
|
NM_001195553.2(DCX):c.191A>G (p.Tyr64Cys)
|
rs587783530
|
|
NM_001195553.2(DCX):c.195C>A (p.Phe65Leu)
|
rs587783531
|
|
NM_001195553.2(DCX):c.226C>T (p.Arg76Cys)
|
rs587783534
|
|
NM_001195553.2(DCX):c.299G>A (p.Gly100Glu)
|
rs587783538
|
|
NM_001195553.2(DCX):c.313_315dup (p.Tyr105dup)
|
rs797045513
|
|
NM_001195553.2(DCX):c.337A>T (p.Ile113Phe)
|
rs587783542
|
|
NM_001195553.2(DCX):c.377T>A (p.Val126Asp)
|
rs587783546
|
|
NM_001195553.2(DCX):c.380G>A (p.Cys127Tyr)
|
rs587783547
|
|
NM_001195553.2(DCX):c.551T>A (p.Ile184Asn)
|
rs587783561
|
|
NM_001195553.2(DCX):c.571C>A (p.Pro191Thr)
|
rs587783565
|
|
NM_001195553.2(DCX):c.596T>C (p.Leu199Pro)
|
rs587783569
|
|
NM_001195553.2(DCX):c.614A>T (p.His205Leu)
|
rs587783572
|
|
NM_001195553.2(DCX):c.688A>C (p.Thr230Pro)
|
rs587783581
|
|
NM_001195553.2(DCX):c.724T>A (p.Phe242Ile)
|
rs587783582
|
|
NM_001195553.2(DCX):c.746T>G (p.Phe249Cys)
|
rs587783584
|
|
NM_001195553.2(DCX):c.773G>C (p.Arg258Pro)
|
rs587783587
|
|
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr)
|
rs1131691503
|
|
NM_001197104.2(KMT2A):c.6158+6T>C
|
rs1555045177
|
|
NM_001197104.2(KMT2A):c.8543T>C (p.Leu2848Pro)
|
rs1555047266
|
|
NM_001244008.2(KIF1A):c.1898G>A (p.Arg633His)
|
rs1553633823
|
|
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu)
|
rs797045655
|
|
NM_001244008.2(KIF1A):c.919C>G (p.Arg307Gly)
|
rs369692236
|
|
NM_001253852.3(AP4B1):c.338+5G>A
|
rs1019204290
|
|
NM_001253852.3(AP4B1):c.663del (p.Leu222fs)
|
rs776766270
|
|
NM_001267550.2(TTN):c.107644del (p.Ser35882fs)
|
rs1179955071
|
|
NM_001267550.2(TTN):c.16508T>A (p.Leu5503Ter)
|
rs2154310403
|
|
NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro)
|
rs587780495
|
|
NM_001282225.2(ADA2):c.1397_1403del (p.Lys466fs)
|
rs754904956
|
|
NM_001283009.2(RTEL1):c.190C>T (p.Arg64Ter)
|
rs368311594
|
|
NM_001283009.2(RTEL1):c.49C>T (p.Pro17Ser)
|
rs1555899096
|
|
NM_001291415.2(KDM6A):c.2988+2dup
|
rs797045643
|
|
NM_001291415.2(KDM6A):c.3507T>G (p.Asn1169Lys)
|
rs2148152270
|
|
NM_001291415.2(KDM6A):c.3635G>T (p.Gly1212Val)
|
rs2148169289
|
|
NM_001291415.2(KDM6A):c.3791A>G (p.Gln1264Arg)
|
rs797045644
|
|
NM_001323289.2(CDKL5):c.526T>C (p.Trp176Arg)
|
rs587783084
|
|
NM_001323289.2(CDKL5):c.59G>T (p.Gly20Val)
|
rs786204962
|
|
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly)
|
rs587783406
|
|
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser)
|
rs267608532
|
|
NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs)
|
rs867342730
|
|
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr)
|
rs1555225794
|
|
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)
|
rs796053216
|
|
NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu)
|
rs587780454
|
|
NM_001347721.2(DYRK1A):c.1378del (p.Gln460fs)
|
rs1555990958
|
|
NM_001347721.2(DYRK1A):c.895T>G (p.Phe299Val)
|
rs797045540
|
|
NM_001347721.2(DYRK1A):c.924+4_924+7del
|
rs1555984461
|
|
NM_001354712.2(THRB):c.917A>C (p.Lys306Thr)
|
rs2148834585
|
|
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del)
|
rs1555954380
|
|
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile)
|
rs199422254
|
|
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn)
|
rs1557265435
|
|
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu)
|
rs181461079
|
|
NM_001364905.1(LRBA):c.459del (p.Asp154fs)
|
rs2149508421
|
|
NM_001367721.1(CASK):c.1155+1G>T
|
|
|
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys)
|
rs398122844
|
|
NM_001367721.1(CASK):c.764G>A (p.Arg255His)
|
rs587783369
|
|
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)
|
rs797045277
|
|
NM_001374828.1(ARID1B):c.4705C>T (p.Gln1569Ter)
|
rs797045278
|
|
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp)
|
rs779003155
|
|
NM_001376.5(DYNC1H1):c.11183G>C (p.Arg3728Pro)
|
rs797045529
|
|
NM_001376.5(DYNC1H1):c.2821G>C (p.Asp941His)
|
rs2141276690
|
|
NM_001376.5(DYNC1H1):c.4501A>T (p.Ile1501Phe)
|
rs368821864
|
|
NM_001376.5(DYNC1H1):c.6122T>C (p.Met2041Thr)
|
rs1555409836
|
|
NM_001376.5(DYNC1H1):c.9959C>T (p.Ala3320Val)
|
rs1555411305
|
|
NM_001378452.1(ITPR1):c.731A>G (p.His244Arg)
|
rs1085308010
|
|
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del)
|
rs1559603328
|
|
NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs)
|
rs386833745
|
|
NM_001379110.1(SLC9A6):c.370-9_370-5del
|
rs796053290
|
|
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)
|
rs1402669959
|
|
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)
|
rs766020802
|
|
NM_001384732.1(CPLANE1):c.8663+2T>C
|
rs2150365416
|
|
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)
|
rs754521581
|
|
NM_001395891.1(CLASP1):c.196-604C>T
|
rs181195449
|
|
NM_001414.4(EIF2B1):c.131G>A (p.Gly44Asp)
|
|
|
NM_001478.5(B4GALNT1):c.515_518delinsAC (p.Gly172fs)
|
rs2140249957
|
|
NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr)
|
rs11549196
|
|
NM_001614.5(ACTG1):c.598T>A (p.Phe200Ile)
|
rs587780275
|
|
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)
|
rs281875328
|
|
NM_001673.5(ASNS):c.1030+1G>A
|
rs780288372
|
|
NM_001673.5(ASNS):c.97C>T (p.Arg33Cys)
|
rs759224338
|
|
NM_001754.5(RUNX1):c.319C>T (p.Arg107Cys)
|
rs2057998063
|
|
NM_001754.5(RUNX1):c.508G>C (p.Gly170Arg)
|
rs2146360175
|
|
NM_001754.5(RUNX1):c.830del (p.Pro277fs)
|
rs2145909826
|
|
NM_001754.5(RUNX1):c.999dup (p.Arg334fs)
|
rs2145878129
|
|
NM_001759.4(CCND2):c.851T>A (p.Val284Glu)
|
rs777786993
|
|
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg)
|
rs1878248687
|
|
NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu)
|
rs1555303720
|
|
NM_001846.4(COL4A2):c.3263G>A (p.Gly1088Asp)
|
rs2139533967
|
|
NM_001848.3(COL6A1):c.905G>T (p.Gly302Val)
|
rs1556425566
|
|
NM_001849.4(COL6A2):c.892G>A (p.Gly298Arg)
|
rs797045478
|
|
NM_001904.4(CTNNB1):c.2079del (p.Ala694fs)
|
rs2125650519
|
|
NM_001927.4(DES):c.1A>G (p.Met1Val)
|
rs1057523274
|
|
NM_001931.5(DLAT):c.848_849del (p.Asp283fs)
|
rs782704553
|
|
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
|
|
|
NM_001987.5(ETV6):c.1132C>T (p.Arg378Ter)
|
rs1947157785
|
|
NM_001987.5(ETV6):c.1196G>A (p.Arg399His)
|
rs2136602321
|
|
NM_002017.5(FLI1):c.1009C>T (p.Arg337Trp)
|
rs1064797083
|
|
NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln)
|
rs1064797086
|
|
NM_002351.5(SH2D1A):c.201+3A>G
|
rs2147531380
|
|
NM_002361.4(MAG):c.416-6_418dup
|
rs1555763342
|
|
NM_002435.3(MPI):c.602T>C (p.Leu201Pro)
|
rs2064752971
|
|
NM_002470.4(MYH3):c.1504T>G (p.Tyr502Asp)
|
rs797045727
|
|
NM_002473.6(MYH9):c.257T>A (p.Met86Lys)
|
rs774334908
|
|
NM_002473.6(MYH9):c.4271A>T (p.Asp1424Val)
|
rs867593888
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser)
|
rs797045900
|
|
NM_002739.5(PRKCG):c.188G>T (p.Gly63Val)
|
rs386134159
|
|
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr)
|
rs1555806333
|
|
NM_003036.4(SKI):c.104C>G (p.Pro35Arg)
|
rs397514589
|
|
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp)
|
rs1554623112
|
|
NM_003070.5(SMARCA2):c.2648C>A (p.Pro883Gln)
|
rs281875188
|
|
NM_003070.5(SMARCA2):c.3493C>A (p.Gln1165Lys)
|
rs797045976
|
|
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp)
|
rs770014321
|
|
NM_003072.5(SMARCA4):c.3734C>G (p.Ala1245Gly)
|
rs797045984
|
|
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu)
|
rs797045989
|
|
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn)
|
rs1568963037
|
|
NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys)
|
rs387906857
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)
|
rs368373840
|
|
NM_003119.4(SPG7):c.1075G>C (p.Ala359Pro)
|
rs1031614168
|
|
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)
|
rs864622507
|
|
NM_003119.4(SPG7):c.2254C>G (p.His752Asp)
|
rs1555618072
|
|
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn)
|
rs797046046
|
|
NM_003383.5(VLDLR):c.2T>C (p.Met1Thr)
|
rs797046092
|
|
NM_003392.7(WNT5A):c.487G>C (p.Gly163Arg)
|
rs587784562
|
|
NM_003466.4(PAX8):c.160A>T (p.Ser54Cys)
|
rs104893660
|
|
NM_003482.4(KMT2D):c.10784A>G (p.Tyr3595Cys)
|
rs1555189207
|
|
NM_003482.4(KMT2D):c.16411A>T (p.Arg5471Trp)
|
rs587783700
|
|
NM_003482.4(KMT2D):c.16413G>T (p.Arg5471Ser)
|
rs587783702
|
|
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del)
|
rs587783704
|
|
NM_003482.4(KMT2D):c.2317del (p.Gln773fs)
|
rs1565817210
|
|
NM_003482.4(KMT2D):c.4421G>A (p.Cys1474Tyr)
|
rs587783718
|
|
NM_003482.4(KMT2D):c.709G>T (p.Glu237Ter)
|
rs1159611979
|
|
NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg)
|
rs587784327
|
|
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn)
|
rs1555988382
|
|
NM_003560.4(PLA2G6):c.1778C>A (p.Pro593Gln)
|
rs1451486649
|
|
NM_003560.4(PLA2G6):c.1973A>C (p.Asn658Thr)
|
rs587784340
|
|
NM_003560.4(PLA2G6):c.1976A>G (p.Asn659Ser)
|
rs1555978219
|
|
NM_003560.4(PLA2G6):c.1978C>T (p.Pro660Ser)
|
rs587784341
|
|
NM_003560.4(PLA2G6):c.2246G>C (p.Trp749Ser)
|
rs587784351
|
|
NM_003560.4(PLA2G6):c.2396T>A (p.Leu799His)
|
rs587784354
|
|
NM_003560.4(PLA2G6):c.478T>C (p.Cys160Arg)
|
rs587784355
|
|
NM_003560.4(PLA2G6):c.4C>A (p.Gln2Lys)
|
rs587784356
|
|
NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr)
|
rs587784359
|
|
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del)
|
rs587784360
|
|
NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup)
|
rs797045889
|
|
NM_003560.4(PLA2G6):c.994T>C (p.Cys332Arg)
|
rs587784364
|
|
NM_003611.3(OFD1):c.1654+5G>C
|
rs1555906316
|
|
NM_003730.6(RNASET2):c.710dup (p.Leu238fs)
|
rs763295910
|
|
NM_003801.4(GPAA1):c.1258C>T (p.Gln420Ter)
|
rs2129946524
|
|
NM_004006.3(DMD):c.6614+3310G>T
|
rs797045526
|
|
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)
|
rs1553997617
|
|
NM_004187.5(KDM5C):c.1613C>T (p.Pro538Leu)
|
rs587780372
|
|
NM_004260.4(RECQL4):c.1852del (p.Arg618fs)
|
rs909588820
|
|
NM_004380.3(CREBBP):c.3490G>C (p.Ala1164Pro)
|
rs797045492
|
|
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys)
|
rs587783481
|
|
NM_004380.3(CREBBP):c.37A>G (p.Lys13Glu)
|
rs587783484
|
|
NM_004380.3(CREBBP):c.3914+3G>T
|
rs587783485
|
|
NM_004380.3(CREBBP):c.4022G>C (p.Arg1341Pro)
|
rs587783488
|
|
NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser)
|
rs587783492
|
|
NM_004380.3(CREBBP):c.4281-11C>G
|
rs587783493
|
|
NM_004380.3(CREBBP):c.4281G>T (p.Arg1427Ser)
|
rs797045494
|
|
NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly)
|
rs587783494
|
|
NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys)
|
rs587783496
|
|
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
|
rs587783502
|
|
NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro)
|
rs587783503
|
|
NM_004380.3(CREBBP):c.5412C>A (p.His1804Gln)
|
rs797045496
|
|
NM_004380.3(CREBBP):c.6130_6171del (p.Ala2044_Gln2057del)
|
rs587783511
|
|
NM_004415.4(DSP):c.6767G>A (p.Gly2256Asp)
|
rs2113701022
|
|
NM_004429.5(EFNB1):c.131T>C (p.Phe44Ser)
|
rs1556105849
|
|
NM_004429.5(EFNB1):c.523C>T (p.Gln175Ter)
|
rs1556107856
|
|
NM_004456.5(EZH2):c.2236A>G (p.Arg746Gly)
|
rs587783627
|
|
NM_004523.4(KIF11):c.2059del (p.His687fs)
|
rs1554862197
|
|
NM_004525.3(LRP2):c.13139del (p.Pro4380fs)
|
rs80338754
|
|
NM_004525.3(LRP2):c.6040+4_6040+7del
|
rs2105343563
|
|
NM_004656.4(BAP1):c.1588del (p.Val530fs)
|
rs2153226657
|
|
NM_004656.4(BAP1):c.272dup (p.Cys91fs)
|
rs2153228146
|
|
NM_004656.4(BAP1):c.358A>T (p.Lys120Ter)
|
rs774573926
|
|
NM_004656.4(BAP1):c.458_459del (p.Pro153fs)
|
rs1559590613
|
|
NM_004722.4(AP4M1):c.32del (p.Lys11fs)
|
rs797045249
|
|
NM_004813.4(PEX16):c.461-2_461del
|
rs2134694006
|
|
NM_004826.4(ECEL1):c.1209G>T (p.Trp403Cys)
|
rs1553567411
|
|
NM_004826.4(ECEL1):c.1797-8G>A
|
rs1553566820
|
|
NM_004836.7(EIF2AK3):c.2045G>A (p.Trp682Ter)
|
rs2104412272
|
|
NM_004959.5(NR5A1):c.102+1G>C
|
rs2131289951
|
|
NM_004959.5(NR5A1):c.1282del (p.Ala428fs)
|
rs2131269203
|
|
NM_004959.5(NR5A1):c.614dup (p.Gln206fs)
|
|
|
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys)
|
rs1057517779
|
|
NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu)
|
rs1554721235
|
|
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
|
rs886041761
|
|
NM_005051.3(QARS1):c.117+1G>T
|
|
|
NM_005120.3(MED12):c.3063C>A (p.Phe1021Leu)
|
rs797045698
|
|
NM_005159.5(ACTC1):c.344A>G (p.Lys115Arg)
|
rs2140431879
|
|
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs)
|
rs779091652
|
|
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)
|
rs147105770
|
|
NM_005249.5(FOXG1):c.563C>G (p.Ala188Gly)
|
rs587783638
|
|
NM_005249.5(FOXG1):c.644_645delinsCT (p.Phe215Ser)
|
rs786204998
|
|
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser)
|
rs727503935
|
|
NM_005249.5(FOXG1):c.685A>C (p.Ile229Leu)
|
rs1064797186
|
|
NM_005249.5(FOXG1):c.713G>A (p.Cys238Tyr)
|
rs1555321337
|
|
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val)
|
rs587783640
|
|
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser)
|
rs587783643
|
|
NM_005257.6(GATA6):c.1367G>A (p.Arg456His)
|
rs387906819
|
|
NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr)
|
rs797045597
|
|
NM_005271.5(GLUD1):c.953G>C (p.Arg318Thr)
|
rs121909736
|
|
NM_005271.5(GLUD1):c.954A>T (p.Arg318Ser)
|
rs2133796065
|
|
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs)
|
rs587777699
|
|
NM_005373.3(MPL):c.1303T>A (p.Trp435Arg)
|
rs1553128241
|
|
NM_005373.3(MPL):c.1454C>T (p.Thr485Ile)
|
rs974626632
|
|
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)
|
rs750046020
|
|
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp)
|
rs587784425
|
|
NM_005445.4(SMC3):c.2005T>G (p.Tyr669Asp)
|
rs776056911
|
|
NM_005445.4(SMC3):c.2338G>C (p.Glu780Gln)
|
rs587784427
|
|
NM_005445.4(SMC3):c.2636G>C (p.Arg879Pro)
|
rs797045996
|
|
NM_005445.4(SMC3):c.3373C>G (p.Leu1125Val)
|
rs901512521
|
|
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro)
|
rs587784429
|
|
NM_005445.4(SMC3):c.856GAA[3] (p.Glu287dup)
|
rs797045997
|
|
NM_005515.4(MNX1):c.780C>A (p.Phe260Leu)
|
rs2134840114
|
|
NM_005515.4(MNX1):c.832C>T (p.Leu278Phe)
|
rs370066878
|
|
NM_005515.4(MNX1):c.885A>C (p.Lys295Asn)
|
rs1064794653
|
|
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu)
|
rs375737188
|
|
NM_005861.4(STUB1):c.694_699del (p.Cys232_Gly233del)
|
rs1555475375
|
|
NM_005861.4(STUB1):c.721C>G (p.Arg241Gly)
|
rs760424025
|
|
NM_005881.4(BCKDK):c.453C>G (p.Tyr151Ter)
|
rs369521689
|
|
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile)
|
rs1555691402
|
|
NM_006005.3(WFS1):c.1237TTC[1] (p.Phe414del)
|
rs797046112
|
|
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1])
|
rs797046113
|
|
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr)
|
rs797046071
|
|
NM_006009.4(TUBA1A):c.1129A>G (p.Met377Val)
|
rs587784481
|
|
NM_006009.4(TUBA1A):c.1144A>G (p.Thr382Ala)
|
rs1555162294
|
|
NM_006009.4(TUBA1A):c.1148C>T (p.Ala383Val)
|
rs587784482
|
|
NM_006009.4(TUBA1A):c.1204C>A (p.Arg402Ser)
|
rs587784483
|
|
NM_006009.4(TUBA1A):c.1274T>A (p.Met425Lys)
|
rs587784484
|
|
NM_006009.4(TUBA1A):c.1304T>C (p.Val435Ala)
|
rs1555162242
|
|
NM_006009.4(TUBA1A):c.152C>T (p.Thr51Ile)
|
rs587784485
|
|
NM_006009.4(TUBA1A):c.162T>A (p.Ser54Arg)
|
rs587784486
|
|
NM_006009.4(TUBA1A):c.269A>G (p.Glu90Gly)
|
rs797046072
|
|
NM_006009.4(TUBA1A):c.368G>A (p.Arg123His)
|
rs1555162456
|
|
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val)
|
rs587784489
|
|
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)
|
rs587784491
|
|
NM_006009.4(TUBA1A):c.698A>G (p.Gln233Arg)
|
rs587784492
|
|
NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser)
|
rs587784494
|
|
NM_006009.4(TUBA1A):c.956A>G (p.Tyr319Cys)
|
rs2121242769
|
|
NM_006009.4(TUBA1A):c.970G>C (p.Val324Leu)
|
rs797046073
|
|
NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr)
|
rs587784497
|
|
NM_006015.6(ARID1A):c.5138T>C (p.Leu1713Pro)
|
rs797045264
|
|
NM_006031.6(PCNT):c.2155-21_2186del
|
rs1555959737
|
|
NM_006031.6(PCNT):c.7842_7843del (p.Cys2614_Glu2615delinsTer)
|
rs2147963975
|
|
NM_006031.6(PCNT):c.9715C>T (p.Gln3239Ter)
|
rs1474939581
|
|
NM_006086.4(TUBB3):c.212G>C (p.Gly71Ala)
|
rs2151092293
|
|
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly)
|
rs1057519927
|
|
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del)
|
rs797045991
|
|
NM_006306.4(SMC1A):c.1267C>A (p.Gln423Lys)
|
rs587784404
|
|
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly)
|
rs587784405
|
|
NM_006306.4(SMC1A):c.1754T>C (p.Leu585Pro)
|
rs587784406
|
|
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His)
|
rs587784407
|
|
NM_006306.4(SMC1A):c.2046_2048del (p.Glu684del)
|
rs797045992
|
|
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln)
|
rs587784408
|
|
NM_006306.4(SMC1A):c.2327T>A (p.Val776Glu)
|
rs587784410
|
|
NM_006306.4(SMC1A):c.3070A>T (p.Asn1024Tyr)
|
rs587784415
|
|
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)
|
rs587784416
|
|
NM_006306.4(SMC1A):c.3557T>C (p.Val1186Ala)
|
rs587784419
|
|
NM_006306.4(SMC1A):c.421G>A (p.Glu141Lys)
|
rs587784420
|
|
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)
|
rs386833977
|
|
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp)
|
rs587784390
|
|
NM_006516.4(SLC2A1):c.426G>T (p.Met142Ile)
|
rs2124450183
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)
|
rs587784384
|
|
NM_006517.5(SLC16A2):c.325T>C (p.Trp109Arg)
|
rs2147834066
|
|
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu)
|
rs104894936
|
|
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del)
|
rs387906501
|
|
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg)
|
rs587784383
|
|
NM_006579.3(EBP):c.201_203dup (p.Cys67dup)
|
rs797045542
|
|
NM_006579.3(EBP):c.204G>T (p.Trp68Cys)
|
rs587783601
|
|
NM_006579.3(EBP):c.214T>C (p.Cys72Arg)
|
rs587783602
|
|
NM_006579.3(EBP):c.218G>A (p.Gly73Glu)
|
rs587783603
|
|
NM_006579.3(EBP):c.299T>C (p.Leu100Pro)
|
rs587783605
|
|
NM_006579.3(EBP):c.303G>T (p.Trp101Cys)
|
rs587783607
|
|
NM_006579.3(EBP):c.311A>G (p.Tyr104Cys)
|
rs587783610
|
|
NM_006579.3(EBP):c.314C>A (p.Ala105Asp)
|
rs587783611
|
|
NM_006579.3(EBP):c.320G>A (p.Gly107Glu)
|
rs587783612
|
|
NM_006579.3(EBP):c.331T>C (p.Tyr111His)
|
rs587783614
|
|
NM_006579.3(EBP):c.369_379delinsAG (p.Ile124_Cys127delinsGly)
|
rs797045545
|
|
NM_006579.3(EBP):c.469+3A>C
|
rs2147156561
|
|
NM_006579.3(EBP):c.481G>A (p.Gly161Arg)
|
rs587783617
|
|
NM_006579.3(EBP):c.527A>G (p.His176Arg)
|
rs587783618
|
|
NM_006579.3(EBP):c.588G>T (p.Trp196Cys)
|
rs2147157078
|
|
NM_006579.3(EBP):c.632T>G (p.Leu211Arg)
|
rs587783619
|
|
NM_006772.3(SYNGAP1):c.3722_3723del (p.Leu1241fs)
|
rs1554122735
|
|
NM_006946.4(SPTBN2):c.1042A>G (p.Asn348Asp)
|
rs1554987311
|
|
NM_006946.4(SPTBN2):c.1043A>T (p.Asn348Ile)
|
rs797046005
|
|
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)
|
rs1554986345
|
|
NM_006946.4(SPTBN2):c.181A>G (p.Lys61Glu)
|
rs797046006
|
|
NM_006950.3(SYN1):c.60del (p.Tyr21fs)
|
rs2147933547
|
|
NM_007055.4(POLR3A):c.2011T>C (p.Trp671Arg)
|
rs1446265632
|
|
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup)
|
rs587777148
|
|
NM_007129.5(ZIC2):c.968A>G (p.His323Arg)
|
rs2152162755
|
|
NM_007175.8(ERLIN2):c.557_557+10delinsCCTGGCTGTGACCTGGGCTGTGA
|
rs1554517382
|
|
NM_007194.4(CHEK2):c.1201_1205del (p.Thr401fs)
|
rs2145803112
|
|
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)
|
rs786205207
|
|
NM_007254.4(PNKP):c.1462dup (p.Ala488fs)
|
rs1343679884
|
|
NM_007289.4(MME):c.1272del (p.Arg425fs)
|
rs1060499935
|
|
NM_007289.4(MME):c.1400dup (p.Arg468fs)
|
rs751149568
|
|
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)
|
rs80357132
|
|
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln)
|
rs781053477
|
|
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser)
|
rs2148711383
|
|
NM_012309.5(SHANK2):c.1987C>T (p.Gln663Ter)
|
rs2134263074
|
|
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter)
|
rs929007085
|
|
NM_013328.4(PYCR2):c.139-2A>C
|
rs1553500497
|
|
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer)
|
rs2100421727
|
|
NM_013382.5(POMT2):c.49_50delinsA (p.Arg18fs)
|
rs1555356398
|
|
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met)
|
rs1557115532
|
|
NM_014009.4(FOXP3):c.434C>T (p.Ala145Val)
|
rs782528935
|
|
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr)
|
rs1555762722
|
|
NM_014362.4(HIBCH):c.809+1G>A
|
rs143746450
|
|
NM_014363.6(SACS):c.3309dup (p.Val1104fs)
|
rs2137636629
|
|
NM_014908.4(DOLK):c.1112T>A (p.Ile371Asn)
|
rs2131127437
|
|
NM_014908.4(DOLK):c.2T>C (p.Met1Thr)
|
rs587777137
|
|
NM_014915.3(ANKRD26):c.-119C>G
|
rs1554800065
|
|
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly)
|
rs797045068
|
|
NM_015100.4(POGZ):c.2604del (p.Asn869fs)
|
rs1553213126
|
|
NM_015272.5(RPGRIP1L):c.1104-2A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs)
|
rs797045918
|
|
NM_015272.5(RPGRIP1L):c.632T>A (p.Leu211Ter)
|
|
|
NM_015346.4(ZFYVE26):c.6384C>A (p.Tyr2128Ter)
|
rs2140192948
|
|
NM_015378.4(VPS13D):c.3569G>A (p.Gly1190Asp)
|
rs1557680919
|
|
NM_015450.3(POT1):c.1572G>A (p.Trp524Ter)
|
rs1794703569
|
|
NM_015450.3(POT1):c.9+1G>C
|
|
|
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His)
|
rs267607042
|
|
NM_015836.4(WARS2):c.797del (p.Pro266fs)
|
rs746478253
|
|
NM_015922.3(NSDHL):c.1114del (p.Val372fs)
|
rs587784222
|
|
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys)
|
rs587784223
|
|
NM_015922.3(NSDHL):c.727G>A (p.Val243Met)
|
rs587784224
|
|
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs)
|
rs797045688
|
|
NM_016222.4(DDX41):c.1016G>T (p.Arg339Leu)
|
rs774698335
|
|
NM_016222.4(DDX41):c.1354del (p.Leu452fs)
|
|
|
NM_016222.4(DDX41):c.1474dup (p.Ala492fs)
|
rs1188549864
|
|
NM_016222.4(DDX41):c.1721del (p.Leu574fs)
|
rs2127435669
|
|
NM_016222.4(DDX41):c.434+1G>C
|
rs1170971274
|
|
NM_016222.4(DDX41):c.435-2_435-1delinsCA
|
rs869320762
|
|
NM_016239.4(MYO15A):c.9303+1G>T
|
rs876657708
|
|
NM_017654.4(SAMD9):c.1853T>C (p.Ile618Thr)
|
rs2116418899
|
|
NM_017696.3(MCM9):c.304+1G>A
|
|
|
NM_017780.4(CHD7):c.4353+3A>G
|
rs587783441
|
|
NM_017780.4(CHD7):c.5450T>G (p.Phe1817Cys)
|
rs587783445
|
|
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg)
|
rs587783451
|
|
NM_018051.5(DYNC2I1):c.1162del (p.Cys388fs)
|
rs1554460624
|
|
NM_018082.6(POLR3B):c.1612_1614del (p.Leu538del)
|
rs797045895
|
|
NM_018136.5(ASPM):c.5422_5425del (p.Leu1808fs)
|
rs1403868262
|
|
NM_018136.5(ASPM):c.5532T>G (p.Tyr1844Ter)
|
rs797045314
|
|
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter)
|
rs199422134
|
|
NM_018451.5(CENPJ):c.3495_3497dup (p.Lys1165dup)
|
rs776528706
|
|
NM_018486.3(HDAC8):c.556G>A (p.Glu186Lys)
|
rs797045612
|
|
NM_018486.3(HDAC8):c.770C>A (p.Pro257His)
|
rs797045613
|
|
NM_018486.3(HDAC8):c.862C>T (p.Leu288Phe)
|
rs2047963148
|
|
NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln)
|
rs763311061
|
|
NM_020320.5(RARS2):c.1054_1055del (p.Lys352fs)
|
rs756696262
|
|
NM_020320.5(RARS2):c.370del (p.Gln124fs)
|
rs1554203400
|
|
NM_020435.4(GJC2):c.1175C>G (p.Ser392Cys)
|
rs1356633840
|
|
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer)
|
rs797045950
|
|
NM_020533.3(MCOLN1):c.1538del (p.Phe513fs)
|
rs2146026152
|
|
NM_020549.5(CHAT):c.635T>A (p.Val212Asp)
|
rs1554802792
|
|
NM_020745.4(AARS2):c.387CTT[1] (p.Phe131del)
|
rs1561943859
|
|
NM_020745.4(AARS2):c.984C>G (p.Ile328Met)
|
rs2153355427
|
|
NM_020812.4(DOCK6):c.5764C>T (p.Gln1922Ter)
|
rs2147691056
|
|
NM_020975.6(RET):c.3148C>T (p.Arg1050Ter)
|
rs767479170
|
|
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile)
|
rs1555499800
|
|
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
|
|
|
NM_021005.4(NR2F2):c.931G>A (p.Glu311Lys)
|
|
|
NM_021922.3(FANCE):c.164G>A (p.Trp55Ter)
|
rs2150885915
|
|
NM_022095.4(ZNF335):c.2515_2518dup (p.Thr840fs)
|
rs797046124
|
|
NM_022124.6(CDH23):c.4104+1G>T
|
rs2132826354
|
|
NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs)
|
rs2149843640
|
|
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr)
|
rs587784127
|
|
NM_022455.5(NSD1):c.4844A>C (p.Tyr1615Ser)
|
rs398124378
|
|
NM_022455.5(NSD1):c.5021G>A (p.Cys1674Tyr)
|
rs587784135
|
|
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg)
|
rs1554200207
|
|
NM_022455.5(NSD1):c.5198G>A (p.Cys1733Tyr)
|
rs587784140
|
|
NM_022455.5(NSD1):c.5390T>C (p.Leu1797Pro)
|
rs587784144
|
|
NM_022455.5(NSD1):c.5419A>C (p.Thr1807Pro)
|
rs587784146
|
|
NM_022455.5(NSD1):c.5471A>G (p.Asp1824Gly)
|
rs587784150
|
|
NM_022455.5(NSD1):c.5741G>C (p.Arg1914Pro)
|
rs587784155
|
|
NM_022455.5(NSD1):c.5798A>G (p.Asn1933Ser)
|
rs587784156
|
|
NM_022455.5(NSD1):c.5918G>T (p.Gly1973Val)
|
rs587784166
|
|
NM_022455.5(NSD1):c.5927T>A (p.Ile1976Lys)
|
rs587784167
|
|
NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr)
|
rs587784167
|
|
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)
|
rs1554204921
|
|
NM_022455.5(NSD1):c.6080G>C (p.Cys2027Ser)
|
rs587784180
|
|
NM_022455.5(NSD1):c.6086C>T (p.Thr2029Ile)
|
rs587784181
|
|
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr)
|
rs587784195
|
|
NM_022455.5(NSD1):c.6418A>G (p.Lys2140Glu)
|
rs587784196
|
|
NM_022455.5(NSD1):c.6485A>C (p.His2162Pro)
|
rs587784204
|
|
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr)
|
rs587784205
|
|
NM_022455.5(NSD1):c.6542_6544dup (p.Ser2181_Phe2182insSer)
|
rs797045833
|
|
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg)
|
rs587784208
|
|
NM_022455.5(NSD1):c.6630_6644del (p.Asn2211_Pro2215del)
|
rs587784211
|
|
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr)
|
rs1554162301
|
|
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met)
|
rs1554162016
|
|
NM_023077.3(COA7):c.107-2A>G
|
rs2149904888
|
|
NM_023110.3(FGFR1):c.2059G>C (p.Gly687Arg)
|
rs727505376
|
|
NM_023110.3(FGFR1):c.809G>A (p.Gly270Asp)
|
rs2150822504
|
|
NM_024426.6(WT1):c.1448-20_1448-1del
|
rs2132900093
|
|
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs)
|
rs1554496609
|
|
NM_024596.5(MCPH1):c.278C>A (p.Ala93Glu)
|
rs587783741
|
|
NM_024596.5(MCPH1):c.40G>A (p.Glu14Lys)
|
rs2129550760
|
|
NM_024675.4(PALB2):c.3048del (p.Phe1016fs)
|
rs515726104
|
|
NM_024740.2(ALG9):c.1225del (p.Arg409fs)
|
|
|
NM_024747.6(HPS6):c.1693T>G (p.Phe565Val)
|
rs1554903728
|
|
NM_024757.5(EHMT1):c.3583_3594del (p.Val1195_Phe1198del)
|
rs1554908290
|
|
NM_024884.3(L2HGDH):c.584A>G (p.Tyr195Cys)
|
rs887386390
|
|
NM_025000.4(DCAF17):c.1027del (p.Asp343fs)
|
|
|
NM_025099.6(CTC1):c.1064_1065del (p.Leu355fs)
|
rs2151522778
|
|
NM_025099.6(CTC1):c.131_134del (p.Asp44fs)
|
rs1250113146
|
|
NM_025099.6(CTC1):c.3594C>A (p.Cys1198Ter)
|
rs2151496734
|
|
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter)
|
rs560987504
|
|
NM_025265.4(TSEN2):c.138CAA[1] (p.Asn48del)
|
rs797046052
|
|
NM_030773.4(TUBB1):c.229C>T (p.Arg77Ter)
|
rs767380935
|
|
NM_030773.4(TUBB1):c.230G>A (p.Arg77Gln)
|
rs572988631
|
|
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser)
|
rs1057517996
|
|
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter)
|
rs1064797235
|
|
NM_031448.6(C19orf12):c.303G>A (p.Trp101Ter)
|
rs1555714808
|
|
NM_032043.3(BRIP1):c.2120del (p.Arg707fs)
|
|
|
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs)
|
rs1295703239
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
NM_032415.7(CARD11):c.3127G>T (p.Glu1043Ter)
|
rs757553187
|
|
NM_032444.4(SLX4):c.951-1G>T
|
rs750371433
|
|
NM_032638.5(GATA2):c.1017+572C>T
|
rs1559985787
|
|
NM_032638.5(GATA2):c.1054T>C (p.Cys352Arg)
|
rs797045591
|
|
NM_032638.5(GATA2):c.1081C>G (p.Arg361Gly)
|
rs1426175410
|
|
NM_032638.5(GATA2):c.1129T>G (p.Tyr377Asp)
|
rs2107668593
|
|
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp)
|
rs1576744529
|
|
NM_032638.5(GATA2):c.857C>T (p.Ala286Val)
|
rs797045592
|
|
NM_032638.5(GATA2):c.995_996insG (p.Ile333fs)
|
rs2107670326
|
|
NM_033163.5(FGF8):c.628_629dup (p.His211fs)
|
rs1554834303
|
|
NM_130839.5(UBE3A):c.1694G>A (p.Gly565Glu)
|
rs587784516
|
|
NM_130839.5(UBE3A):c.1748A>G (p.Asp583Gly)
|
rs587784518
|
|
NM_130839.5(UBE3A):c.1823A>G (p.Gln608Arg)
|
rs587782919
|
|
NM_130839.5(UBE3A):c.2563C>T (p.Leu855Phe)
|
rs587783097
|
|
NM_130839.5(UBE3A):c.448_459del (p.Ile150_Val153del)
|
rs587784531
|
|
NM_133259.4(LRPPRC):c.1678-1G>A
|
rs1351402169
|
|
NM_133433.4(NIPBL):c.1477A>G (p.Lys493Glu)
|
rs587783887
|
|
NM_133433.4(NIPBL):c.1496-8A>G
|
rs797045747
|
|
NM_133433.4(NIPBL):c.201_212del (p.His67_Asn70del)
|
rs587783893
|
|
NM_133433.4(NIPBL):c.206T>C (p.Leu69Pro)
|
rs587783895
|
|
NM_133433.4(NIPBL):c.3122-2A>G
|
rs587783918
|
|
NM_133433.4(NIPBL):c.3137C>A (p.Ser1046Ter)
|
rs1554019663
|
|
NM_133433.4(NIPBL):c.3304+5G>A
|
rs80358356
|
|
NM_133433.4(NIPBL):c.3440G>A (p.Arg1147Gln)
|
rs587783921
|
|
NM_133433.4(NIPBL):c.345A>G (p.Arg115=)
|
rs587783922
|
|
NM_133433.4(NIPBL):c.358+5G>C
|
rs587783928
|
|
NM_133433.4(NIPBL):c.3804_3818del (p.Leu1269_Ile1273del)
|
rs587783931
|
|
NM_133433.4(NIPBL):c.3818T>G (p.Ile1273Ser)
|
rs587783932
|
|
NM_133433.4(NIPBL):c.3855+5G>A
|
rs80358378
|
|
NM_133433.4(NIPBL):c.3856-7_3856-5del
|
rs797045757
|
|
NM_133433.4(NIPBL):c.4320+2dup
|
rs797045758
|
|
NM_133433.4(NIPBL):c.4421G>C (p.Arg1474Thr)
|
rs587783947
|
|
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg)
|
rs587783948
|
|
NM_133433.4(NIPBL):c.4810_4817dup (p.Arg1606_Val1607insLeuTer)
|
rs2149692104
|
|
NM_133433.4(NIPBL):c.5327A>T (p.Gln1776Leu)
|
rs587783966
|
|
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)
|
rs80358380
|
|
NM_133433.4(NIPBL):c.5456G>A (p.Arg1819Gln)
|
rs80358366
|
|
NM_133433.4(NIPBL):c.5465A>G (p.Asp1822Gly)
|
rs587783977
|
|
NM_133433.4(NIPBL):c.5566A>G (p.Arg1856Gly)
|
rs80358373
|
|
NM_133433.4(NIPBL):c.5732A>C (p.Gln1911Pro)
|
rs587783982
|
|
NM_133433.4(NIPBL):c.5921TTG[1] (p.Val1975del)
|
rs587783987
|
|
NM_133433.4(NIPBL):c.5923G>T (p.Val1975Phe)
|
rs587783986
|
|
NM_133433.4(NIPBL):c.6158T>C (p.Leu2053Pro)
|
rs587783997
|
|
NM_133433.4(NIPBL):c.6170T>C (p.Leu2057Pro)
|
rs587783998
|
|
NM_133433.4(NIPBL):c.6242G>T (p.Gly2081Val)
|
rs587784000
|
|
NM_133433.4(NIPBL):c.6250G>T (p.Val2084Leu)
|
rs587784002
|
|
NM_133433.4(NIPBL):c.6266T>G (p.Val2089Gly)
|
rs587784003
|
|
NM_133433.4(NIPBL):c.6316G>C (p.Val2106Leu)
|
rs587784004
|
|
NM_133433.4(NIPBL):c.6343G>A (p.Gly2115Ser)
|
rs587784007
|
|
NM_133433.4(NIPBL):c.6362_6364del (p.Lys2121del)
|
rs587784008
|
|
NM_133433.4(NIPBL):c.64+5G>A
|
rs587784011
|
|
NM_133433.4(NIPBL):c.65-5A>G
|
rs587784012
|
|
NM_133433.4(NIPBL):c.6629AAG[1] (p.Glu2211del)
|
rs587784019
|
|
NM_133433.4(NIPBL):c.6760_6761del (p.Asp2254fs)
|
rs2149737142
|
|
NM_133433.4(NIPBL):c.6800T>G (p.Met2267Arg)
|
rs797045779
|
|
NM_133433.4(NIPBL):c.6935G>T (p.Gly2312Val)
|
rs587784025
|
|
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro)
|
rs587784030
|
|
NM_133433.4(NIPBL):c.7141G>A (p.Gly2381Ser)
|
rs587784035
|
|
NM_133433.4(NIPBL):c.7301A>G (p.Asn2434Ser)
|
rs80358384
|
|
NM_133433.4(NIPBL):c.7306G>A (p.Ala2436Thr)
|
rs587784039
|
|
NM_133433.4(NIPBL):c.7336_7338del (p.Pro2446del)
|
rs587784040
|
|
NM_133433.4(NIPBL):c.8173G>C (p.Ala2725Pro)
|
rs587784053
|
|
NM_133433.4(NIPBL):c.8296_8300delinsTT (p.Ile2766_Lys2767delinsLeu)
|
rs797045788
|
|
NM_138386.3(NAF1):c.1033+1G>A
|
|
|
NM_138386.3(NAF1):c.1033+1G>T
|
rs2110894530
|
|
NM_138386.3(NAF1):c.691A>T (p.Lys231Ter)
|
|
|
NM_138711.6(PPARG):c.1262T>C (p.Leu421Pro)
|
rs1553653993
|
|
NM_138711.6(PPARG):c.380A>G (p.Glu127Gly)
|
rs1553643326
|
|
NM_138711.6(PPARG):c.491G>A (p.Arg164Gln)
|
rs148195788
|
|
NM_138711.6(PPARG):c.545G>A (p.Arg182Gln)
|
rs1553647989
|
|
NM_138711.6(PPARG):c.881T>C (p.Ile294Thr)
|
rs1378972597
|
|
NM_138711.6(PPARG):c.920T>C (p.Leu307Pro)
|
rs2125284643
|
|
NM_139058.3(ARX):c.1121T>A (p.Val374Asp)
|
rs587783183
|
|
NM_139058.3(ARX):c.1134C>A (p.Asn378Lys)
|
rs587783184
|
|
NM_139058.3(ARX):c.426_461dup (p.Gly143_Ala154dup)
|
rs1556056131
|
|
NM_144508.5(KNL1):c.4745_4746delinsC (p.Leu1582fs)
|
rs1555420891
|
|
NM_144508.5(KNL1):c.694del (p.Asp232fs)
|
rs797045430
|
|
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)
|
rs796052243
|
|
NM_152263.4(TPM3):c.734G>T (p.Arg245Ile)
|
rs797046047
|
|
NM_152296.5(ATP1A3):c.1004C>A (p.Thr335Lys)
|
rs1131691940
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)
|
rs886041396
|
|
NM_152296.5(ATP1A3):c.2401G>C (p.Asp801His)
|
rs80356537
|
|
NM_152384.3(BBS5):c.966dup (p.Ala323fs)
|
rs1553529427
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
NM_152703.5(SAMD9L):c.4224dup (p.Gln1409fs)
|
rs759143613
|
|
NM_152722.5(HEPACAM):c.285T>G (p.Tyr95Ter)
|
rs2135400018
|
|
NM_152743.4(BRAT1):c.1990C>T (p.Gln664Ter)
|
rs2128384174
|
|
NM_152783.5(D2HGDH):c.1306+2T>C
|
rs797045507
|
|
NM_153704.6(TMEM67):c.758G>A (p.Cys253Tyr)
|
rs765536334
|
|
NM_170707.4(LMNA):c.104T>C (p.Leu35Pro)
|
rs267607644
|
|
NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe)
|
rs1553265739
|
|
NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del)
|
rs1553265761
|
|
NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro)
|
rs267607576
|
|
NM_170707.4(LMNA):c.1396A>G (p.Asn466Asp)
|
rs2102893640
|
|
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)
|
rs57629361
|
|
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro)
|
rs61444459
|
|
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile)
|
rs57077886
|
|
NM_170707.4(LMNA):c.464_478del (p.Lys155_Gly160delinsSer)
|
rs1553264624
|
|
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)
|
rs267607570
|
|
NM_170707.4(LMNA):c.790_792del (p.Glu264del)
|
rs1553265369
|
|
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn)
|
rs267607591
|
|
NM_170707.4(LMNA):c.917T>C (p.Leu306Pro)
|
rs730882262
|
|
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
|
|
|
NM_172107.4(KCNQ2):c.693G>T (p.Glu231Asp)
|
rs797044938
|
|
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile)
|
rs794727741
|
|
NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val)
|
rs797045638
|
|
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)
|
rs794727740
|
|
NM_173477.5(USH1G):c.1306C>T (p.Arg436Ter)
|
rs755908331
|
|
NM_173495.3(PTCHD1):c.893G>A (p.Trp298Ter)
|
rs1555912102
|
|
NM_173543.3(DZIP1L):c.1268_1269del (p.Glu423fs)
|
|
|
NM_173560.4(RFX6):c.541C>T (p.Arg181Trp)
|
rs587780440
|
|
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr)
|
rs1553847993
|
|
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)
|
rs1555813319
|
|
NM_175914.5(HNF4A):c.225-1G>C
|
rs2146375350
|
|
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)
|
rs1085307913
|
|
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del)
|
rs1280663753
|
|
NM_175914.5(HNF4A):c.614A>C (p.His205Pro)
|
rs2146438016
|
|
NM_175914.5(HNF4A):c.617T>A (p.Leu206Gln)
|
rs2146438052
|
|
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)
|
rs376013528
|
|
NM_175914.5(HNF4A):c.740T>C (p.Leu247Pro)
|
rs1555816654
|
|
NM_175914.5(HNF4A):c.869G>A (p.Arg290His)
|
rs1191912908
|
|
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup)
|
rs776489992
|
|
NM_178012.5(TUBB2B):c.1139G>T (p.Arg380Leu)
|
rs587784498
|
|
NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg)
|
rs797046075
|
|
NM_178012.5(TUBB2B):c.515C>T (p.Ser172Leu)
|
rs1554126925
|
|
NM_178012.5(TUBB2B):c.533C>T (p.Thr178Met)
|
rs1057520391
|
|
NM_178012.5(TUBB2B):c.5G>A (p.Arg2His)
|
rs2113820430
|
|
NM_178012.5(TUBB2B):c.673C>T (p.Leu225Phe)
|
rs2113819161
|
|
NM_178012.5(TUBB2B):c.871C>A (p.Gln291Lys)
|
rs1554126886
|
|
NM_178012.5(TUBB2B):c.965C>T (p.Ser322Phe)
|
rs587784502
|
|
NM_178014.4(TUBB):c.682C>A (p.Leu228Ile)
|
rs1057524718
|
|
NM_178014.4(TUBB):c.897G>A (p.Met299Ile)
|
rs2127749712
|
|
NM_178161.3(PTF1A):c.532del (p.Ser178fs)
|
rs2131680472
|
|
NM_181523.3(PIK3R1):c.1106C>T (p.Thr369Ile)
|
rs587784325
|
|
NM_182961.4(SYNE1):c.16155C>G (p.Tyr5385Ter)
|
|
|
NM_182961.4(SYNE1):c.1933-2A>G
|
rs1554753528
|
|
NM_183050.4(BCKDHB):c.1119del (p.Phe374fs)
|
rs797045411
|
|
NM_194318.4(B3GLCT):c.1045G>A (p.Asp349Asn)
|
rs2137881468
|
|
NM_198253.3(TERT):c.1620C>G (p.Ile540Met)
|
rs797046041
|
|
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)
|
rs1194223999
|
|
NM_198253.3(TERT):c.1990G>C (p.Val664Leu)
|
rs797046042
|
|
NM_198253.3(TERT):c.2011C>G (p.Arg671Gly)
|
rs1060503011
|
|
NM_198253.3(TERT):c.2058C>G (p.Ile686Met)
|
rs745590324
|
|
NM_198253.3(TERT):c.230T>C (p.Leu77Pro)
|
rs1751271544
|
|
NM_198253.3(TERT):c.2314T>C (p.Tyr772His)
|
rs1749098222
|
|
NM_198253.3(TERT):c.2329G>A (p.Val777Met)
|
rs1554040129
|
|
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu)
|
rs387907251
|
|
NM_198253.3(TERT):c.3157+1G>T
|
rs2126562296
|
|
NM_198253.3(TERT):c.347C>T (p.Thr116Ile)
|
rs1751259223
|
|
NM_198525.3(KIF7):c.3508C>T (p.Gln1170Ter)
|
rs2141993907
|
|
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn)
|
rs121917876
|
|
NM_199242.3(UNC13D):c.79dup (p.Arg27fs)
|
rs1244919509
|
|
NM_201525.4(ADGRG1):c.1850G>C (p.Trp617Ser)
|
rs587783656
|
|
NM_207346.3(TSEN54):c.1511T>C (p.Leu504Pro)
|
rs587784477
|
|
NM_213622.4(STAMBP):c.1119-6T>G
|
rs797046015
|
|
NM_213622.4(STAMBP):c.232C>T (p.Arg78Ter)
|
rs1174684647
|
|
NR_001566.1(TERC):n.-58C>T
|
rs2108183554
|
|
NR_001566.1(TERC):n.108del
|
rs2108183267
|
|
NR_001566.1(TERC):n.180C>G
|
rs199422276
|
|
NR_001566.1(TERC):n.306T>G
|
rs1553915591
|
|
NR_001566.1(TERC):n.357_365del
|
rs1415168771
|
|
NR_001566.1(TERC):n.443C>A
|
rs1553915577
|
|
NR_001566.1(TERC):n.54A>C
|
rs1288561509
|
|