NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_004525.3(LRP2):c.6473A>C (p.Asn2158Thr)
|
rs34052957
|
0.00157
|
NM_001038.6(SCNN1A):c.-55+2T>C
|
rs772498945
|
0.00122
|
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00102
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs)
|
rs386833873
|
0.00089
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)
|
rs199690076
|
0.00059
|
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro)
|
rs147200024
|
0.00048
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_001126108.2(SLC12A3):c.2470T>A (p.Ser824Thr)
|
rs146845953
|
0.00038
|
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)
|
rs148812376
|
0.00032
|
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu)
|
rs148832260
|
0.00032
|
NM_000516.7(GNAS):c.-176G>T
|
rs1159136778
|
0.00030
|
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)
|
rs113446173
|
0.00030
|
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)
|
rs121917716
|
0.00028
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
NM_020975.6(RET):c.785T>C (p.Val262Ala)
|
rs139790943
|
0.00024
|
NM_024426.6(WT1):c.760C>T (p.Pro254Ser)
|
rs2234584
|
0.00022
|
NM_004064.5(CDKN1B):c.-80C>T
|
rs551236750
|
0.00021
|
NM_175875.5(SIX5):c.472G>A (p.Ala158Thr)
|
rs80356461
|
0.00020
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000216.4(ANOS1):c.555G>C (p.Lys185Asn)
|
rs140670828
|
0.00019
|
NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser)
|
rs121434391
|
0.00018
|
NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr)
|
rs144481204
|
0.00018
|
NM_004646.4(NPHS1):c.559G>A (p.Val187Met)
|
rs199646884
|
0.00016
|
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met)
|
rs139024319
|
0.00016
|
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)
|
rs149891333
|
0.00015
|
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)
|
rs140012781
|
0.00014
|
NM_033380.3(COL4A5):c.4567C>A (p.Pro1523Thr)
|
rs201220208
|
0.00014
|
NM_170784.3(MKKS):c.1553G>A (p.Arg518His)
|
rs149051148
|
0.00014
|
NM_000169.3(GLA):c.1088G>A (p.Arg363His)
|
rs111422676
|
0.00013
|
NM_019892.6(INPP5E):c.1178T>C (p.Val393Ala)
|
rs930286679
|
0.00013
|
NM_000064.4(C3):c.4148C>A (p.Thr1383Asn)
|
rs139100972
|
0.00011
|
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)
|
rs201504674
|
0.00011
|
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)
|
rs121918244
|
0.00011
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln)
|
rs368404711
|
0.00010
|
NM_000216.4(ANOS1):c.1699G>A (p.Gly567Ser)
|
rs142455173
|
0.00010
|
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)
|
rs746838237
|
0.00010
|
NM_001110556.2(FLNA):c.2147G>A (p.Gly716Asp)
|
rs782697176
|
0.00009
|
NM_001110556.2(FLNA):c.2609A>G (p.His870Arg)
|
rs200679107
|
0.00009
|
NM_001243133.2(NLRP3):c.1936G>T (p.Asp646Tyr)
|
rs138061418
|
0.00009
|
NM_004646.4(NPHS1):c.2335-1G>A
|
rs150038620
|
0.00009
|
NM_004787.4(SLIT2):c.1697G>A (p.Ser566Asn)
|
rs200151302
|
0.00009
|
NM_014875.3(KIF14):c.4506_4507del (p.Glu1502fs)
|
rs759885256
|
0.00009
|
NM_014875.3(KIF14):c.4509del (p.Phe1503_Leu1504insTer)
|
rs774753490
|
0.00009
|
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)
|
rs202114767
|
0.00008
|
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val)
|
rs761575154
|
0.00008
|
NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala)
|
rs200277422
|
0.00008
|
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)
|
rs104886270
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_153240.5(NPHP3):c.703G>A (p.Gly235Arg)
|
rs368570508
|
0.00008
|
NM_181712.5(KANK4):c.1342C>T (p.Arg448Ter)
|
rs370065609
|
0.00007
|
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln)
|
rs138007561
|
0.00006
|
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)
|
rs121918593
|
0.00006
|
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val)
|
rs199474740
|
0.00006
|
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)
|
rs202119350
|
0.00006
|
NM_004341.5(CAD):c.2870G>T (p.Gly957Val)
|
rs999093646
|
0.00006
|
NM_005529.7(HSPG2):c.10787G>A (p.Cys3596Tyr)
|
rs747227079
|
0.00006
|
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser)
|
rs775057827
|
0.00006
|
NM_016292.3(TRAP1):c.320C>G (p.Ser107Ter)
|
rs1199330194
|
0.00006
|
NM_030787.4(CFHR5):c.1331-2A>G
|
rs148301128
|
0.00006
|
NM_033380.3(COL4A5):c.4898C>T (p.Ala1633Val)
|
rs982188184
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
|
rs74315398
|
0.00006
|
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg)
|
rs539765620
|
0.00005
|
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg)
|
rs752101663
|
0.00005
|
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs)
|
rs1368105372
|
0.00005
|
NM_017780.4(CHD7):c.8356G>A (p.Gly2786Arg)
|
rs765315726
|
0.00005
|
NM_024753.5(TTC21B):c.2913dup (p.Val972fs)
|
rs867205119
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)
|
rs184730597
|
0.00004
|
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr)
|
rs141344760
|
0.00004
|
NM_000297.4(PKD2):c.1444T>G (p.Phe482Val)
|
rs201504575
|
0.00004
|
NM_000551.4(VHL):c.167C>G (p.Ala56Gly)
|
rs752980085
|
0.00004
|
NM_001166114.2(PNPLA6):c.3122T>C (p.Leu1041Ser)
|
rs1291359628
|
0.00004
|
NM_001235.5(SERPINH1):c.436T>C (p.Phe146Leu)
|
rs972547822
|
0.00004
|
NM_001395656.1(ROBO2):c.3676G>A (p.Asp1226Asn)
|
rs1485782313
|
0.00004
|
NM_002473.6(MYH9):c.5630G>A (p.Arg1877Gln)
|
rs759777823
|
0.00004
|
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)
|
rs570278423
|
0.00004
|
NM_004064.5(CDKN1B):c.25G>A (p.Gly9Arg)
|
rs755225286
|
0.00004
|
NM_004621.6(TRPC6):c.2534T>G (p.Leu845Arg)
|
rs1165923760
|
0.00004
|
NM_006005.3(WFS1):c.1993A>C (p.Thr665Pro)
|
rs369656458
|
0.00004
|
NM_014140.4(SMARCAL1):c.863-2A>G
|
rs761546902
|
0.00004
|
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val)
|
rs780761368
|
0.00004
|
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)
|
rs370210428
|
0.00004
|
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)
|
rs1277577195
|
0.00004
|
NM_017780.4(CHD7):c.5533G>A (p.Gly1845Arg)
|
rs753347128
|
0.00004
|
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu)
|
rs113938624
|
0.00004
|
NM_025132.4(WDR19):c.3565+1G>A
|
rs587777352
|
0.00004
|
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)
|
rs199531851
|
0.00004
|
NM_138959.3(VANGL1):c.821G>A (p.Arg274Gln)
|
rs121918219
|
0.00004
|
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp)
|
rs768554175
|
0.00003
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)
|
rs397515907
|
0.00003
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
NM_000291.4(PGK1):c.116G>A (p.Arg39Lys)
|
rs1310556137
|
0.00003
|
NM_000291.4(PGK1):c.736A>G (p.Lys246Glu)
|
rs144399762
|
0.00003
|
NM_000441.2(SLC26A4):c.1301C>A (p.Ala434Asp)
|
rs1035397261
|
0.00003
|
NM_000455.5(STK11):c.566C>T (p.Thr189Ile)
|
rs587781515
|
0.00003
|
NM_000466.3(PEX1):c.721del (p.Ser241fs)
|
rs894289737
|
0.00003
|
NM_000478.6(ALPL):c.1373A>G (p.Asp458Gly)
|
rs1428657470
|
0.00003
|
NM_000478.6(ALPL):c.610A>G (p.Ile204Val)
|
rs374558572
|
0.00003
|
NM_000486.6(AQP2):c.62T>C (p.Leu21Pro)
|
rs1393300849
|
0.00003
|
NM_000537.4(REN):c.320C>T (p.Ser107Leu)
|
rs1409715151
|
0.00003
|
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys)
|
rs796053492
|
0.00003
|
NM_001002295.2(GATA3):c.260C>G (p.Pro87Arg)
|
rs1241255776
|
0.00003
|
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser)
|
rs573566419
|
0.00003
|
NM_001105247.2(ARMC5):c.1084C>T (p.Arg362Trp)
|
rs1385397608
|
0.00003
|
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu)
|
rs779160677
|
0.00003
|
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)
|
rs568513106
|
0.00003
|
NM_001253.4(CDC5L):c.2014C>T (p.Pro672Ser)
|
rs765864584
|
0.00003
|
NM_001395656.1(ROBO2):c.2402G>A (p.Arg801Gln)
|
rs201678507
|
0.00003
|
NM_001845.6(COL4A1):c.859-8_859del
|
rs1360123079
|
0.00003
|
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)
|
rs74315370
|
0.00003
|
NM_003638.3(ITGA8):c.2139T>G (p.Cys713Trp)
|
rs989350537
|
0.00003
|
NM_003982.4(SLC7A7):c.1195G>A (p.Gly399Ser)
|
rs1468788152
|
0.00003
|
NM_004380.3(CREBBP):c.4213G>A (p.Val1405Met)
|
rs140133512
|
0.00003
|
NM_004525.3(LRP2):c.7081C>A (p.Pro2361Thr)
|
rs776174341
|
0.00003
|
NM_005257.6(GATA6):c.1171G>A (p.Val391Met)
|
rs1043497891
|
0.00003
|
NM_014270.5(SLC7A9):c.325G>A (p.Ala109Thr)
|
rs750849536
|
0.00003
|
NM_014813.3(LRIG2):c.1237G>T (p.Glu413Ter)
|
rs1399525051
|
0.00003
|
NM_015910.7(WDPCP):c.277A>T (p.Lys93Ter)
|
rs1188000133
|
0.00003
|
NM_020041.3(SLC2A9):c.1114-1G>C
|
rs1447625985
|
0.00003
|
NM_020117.11(LARS1):c.1588T>C (p.Trp530Arg)
|
rs1330294601
|
0.00003
|
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)
|
rs376040501
|
0.00003
|
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys)
|
rs748714111
|
0.00003
|
NM_000069.3(CACNA1S):c.1948+1G>A
|
rs745712829
|
0.00002
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu)
|
rs1026613471
|
0.00002
|
NM_000334.4(SCN4A):c.757G>A (p.Val253Met)
|
rs772899378
|
0.00002
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)
|
rs193922672
|
0.00002
|
NM_001077365.2(POMT1):c.880G>T (p.Gly294Cys)
|
rs145395372
|
0.00002
|
NM_001110556.2(FLNA):c.1406C>T (p.Pro469Leu)
|
rs782434140
|
0.00002
|
NM_001110556.2(FLNA):c.5069C>T (p.Thr1690Met)
|
rs782352193
|
0.00002
|
NM_001199107.2(TBC1D24):c.1675C>T (p.Gln559Ter)
|
rs1253505916
|
0.00002
|
NM_002473.6(MYH9):c.3742A>G (p.Lys1248Glu)
|
rs1276028189
|
0.00002
|
NM_004589.4(SCO1):c.346A>G (p.Lys116Glu)
|
rs1158150053
|
0.00002
|
NM_004621.6(TRPC6):c.1079G>A (p.Arg360His)
|
rs777715086
|
0.00002
|
NM_005251.3(FOXC2):c.1460T>C (p.Leu487Pro)
|
rs781751310
|
0.00002
|
NM_016292.3(TRAP1):c.499G>A (p.Glu167Lys)
|
rs1300959241
|
0.00002
|
NM_016327.3(UPB1):c.364+1G>A
|
rs1019345080
|
0.00002
|
NM_024649.5(BBS1):c.169G>C (p.Gly57Arg)
|
rs1355873337
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter)
|
rs119456961
|
0.00002
|
NM_175914.5(HNF4A):c.658G>A (p.Val220Met)
|
rs202105574
|
0.00002
|
NM_000053.4(ATP7B):c.3571A>G (p.Met1191Val)
|
rs1566452960
|
0.00001
|
NM_000053.4(ATP7B):c.811T>C (p.Cys271Arg)
|
rs1349622044
|
0.00001
|
NM_000064.4(C3):c.1433G>T (p.Arg478Leu)
|
rs747968673
|
0.00001
|
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)
|
rs770073633
|
0.00001
|
NM_000069.3(CACNA1S):c.3398T>C (p.Ile1133Thr)
|
rs1558061864
|
0.00001
|
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)
|
rs201627041
|
0.00001
|
NM_000069.3(CACNA1S):c.3988del (p.Leu1330fs)
|
rs757045433
|
0.00001
|
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)
|
rs773515249
|
0.00001
|
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)
|
rs778034451
|
0.00001
|
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)
|
rs868002181
|
0.00001
|
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg)
|
rs769683665
|
0.00001
|
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)
|
rs267606745
|
0.00001
|
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg)
|
rs1293137291
|
0.00001
|
NM_000091.5(COL4A3):c.3820G>A (p.Gly1274Ser)
|
rs1559914789
|
0.00001
|
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg)
|
rs1241404192
|
0.00001
|
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val)
|
rs1189502123
|
0.00001
|
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs)
|
rs1162601696
|
0.00001
|
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)
|
rs121912861
|
0.00001
|
NM_000092.5(COL4A4):c.4412A>C (p.His1471Pro)
|
rs762796207
|
0.00001
|
NM_000092.5(COL4A4):c.489+1G>A
|
rs1040287646
|
0.00001
|
NM_000093.5(COL5A1):c.4955G>C (p.Gly1652Ala)
|
rs1206652736
|
0.00001
|
NM_000098.3(CPT2):c.984T>A (p.Asp328Glu)
|
rs1408974808
|
0.00001
|
NM_000124.4(ERCC6):c.2293T>C (p.Phe765Leu)
|
rs1157637875
|
0.00001
|
NM_000135.4(FANCA):c.1652T>C (p.Val551Ala)
|
rs1331541085
|
0.00001
|
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)
|
rs782449839
|
0.00001
|
NM_000186.4(CFH):c.2573G>A (p.Trp858Ter)
|
rs1315461639
|
0.00001
|
NM_000213.5(ITGB4):c.1792T>C (p.Cys598Arg)
|
rs1179032756
|
0.00001
|
NM_000213.5(ITGB4):c.373C>T (p.Pro125Ser)
|
rs1313828612
|
0.00001
|
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)
|
rs397508097
|
0.00001
|
NM_000249.4(MLH1):c.2050T>C (p.Tyr684His)
|
rs1386031101
|
0.00001
|
NM_000255.4(MMUT):c.1079A>G (p.Glu360Gly)
|
rs1442661766
|
0.00001
|
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)
|
rs121909377
|
0.00001
|
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)
|
rs121918040
|
0.00001
|
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)
|
rs369678636
|
0.00001
|
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)
|
rs1302726543
|
0.00001
|
NM_000314.8(PTEN):c.425G>A (p.Arg142Gln)
|
rs753630034
|
0.00001
|
NM_000325.6(PITX2):c.902T>G (p.Phe301Cys)
|
rs1184603292
|
0.00001
|
NM_000334.4(SCN4A):c.3936G>C (p.Met1312Ile)
|
rs1567817375
|
0.00001
|
NM_000334.4(SCN4A):c.4379G>A (p.Arg1460Gln)
|
rs1210934866
|
0.00001
|
NM_000334.4(SCN4A):c.706C>G (p.Leu236Val)
|
rs1253475807
|
0.00001
|
NM_000342.4(SLC4A1):c.229G>A (p.Glu77Lys)
|
rs1567834917
|
0.00001
|
NM_000368.5(TSC1):c.1943T>C (p.Val648Ala)
|
rs771341361
|
0.00001
|
NM_000368.5(TSC1):c.397G>A (p.Val133Ile)
|
rs118203381
|
0.00001
|
NM_000373.4(UMPS):c.1285G>C (p.Gly429Arg)
|
rs121917891
|
0.00001
|
NM_000373.4(UMPS):c.286A>G (p.Arg96Gly)
|
rs121917890
|
0.00001
|
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg)
|
rs1064794291
|
0.00001
|
NM_000431.4(MVK):c.614A>G (p.Asn205Ser)
|
rs767853272
|
0.00001
|
NM_000435.3(NOTCH3):c.1076C>G (p.Pro359Arg)
|
rs1487017745
|
0.00001
|
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys)
|
rs1057519101
|
0.00001
|
NM_000441.2(SLC26A4):c.1708-1G>A
|
rs759414956
|
0.00001
|
NM_000455.5(STK11):c.94A>G (p.Thr32Ala)
|
rs755210880
|
0.00001
|
NM_000458.4(HNF1B):c.1414G>A (p.Val472Ile)
|
rs762841746
|
0.00001
|
NM_000478.6(ALPL):c.994G>T (p.Glu332Ter)
|
rs768976020
|
0.00001
|
NM_000503.6(EYA1):c.1483T>A (p.Cys495Ser)
|
rs1563630587
|
0.00001
|
NM_000522.5(HOXA13):c.960G>C (p.Arg320Ser)
|
rs1190905313
|
0.00001
|
NM_000523.4(HOXD13):c.674C>G (p.Ser225Cys)
|
rs367674921
|
0.00001
|
NM_000548.5(TSC2):c.1678G>A (p.Val560Met)
|
rs141631268
|
0.00001
|
NM_001003841.3(SLC6A19):c.728del (p.Thr243fs)
|
rs1561165786
|
0.00001
|
NM_001005242.3(PKP2):c.837_838del (p.Val280fs)
|
rs772220644
|
0.00001
|
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)
|
rs1555455457
|
0.00001
|
NM_001009944.3(PKD1):c.7183A>T (p.Asn2395Tyr)
|
rs763140198
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001034116.2(EIF2B4):c.1191+2T>C
|
rs751867352
|
0.00001
|
NM_001040716.2(PC):c.920C>T (p.Ala307Val)
|
rs1247838963
|
0.00001
|
NM_001041.4(SI):c.3896C>A (p.Ala1299Glu)
|
rs1559990008
|
0.00001
|
NM_001042492.3(NF1):c.3722G>A (p.Arg1241Gln)
|
rs543387071
|
0.00001
|
NM_001042492.3(NF1):c.4252A>G (p.Ile1418Val)
|
rs369345045
|
0.00001
|
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)
|
rs199474766
|
0.00001
|
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro)
|
rs587782686
|
0.00001
|
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser)
|
rs781993685
|
0.00001
|
NM_001110556.2(FLNA):c.7520T>C (p.Ile2507Thr)
|
rs863223626
|
0.00001
|
NM_001126108.2(SLC12A3):c.1180+1G>T
|
rs749098014
|
0.00001
|
NM_001126108.2(SLC12A3):c.2623G>A (p.Glu875Lys)
|
rs1441228030
|
0.00001
|
NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp)
|
rs759426055
|
0.00001
|
NM_001127649.3(PEX26):c.529G>A (p.Ala177Thr)
|
rs1466173209
|
0.00001
|
NM_001142285.2(RPS24):c.391-2A>T
|
rs1228580232
|
0.00001
|
NM_001174147.2(LMX1B):c.736C>T (p.Arg246Ter)
|
rs1554728698
|
0.00001
|
NM_001177701.3(IFT27):c.234+1G>A
|
rs1159774355
|
0.00001
|
NM_001257281.2(DIS3L2):c.1625dup (p.His542fs)
|
rs757880754
|
0.00001
|
NM_001358921.2(COQ2):c.225dup (p.Arg76fs)
|
rs1309293625
|
0.00001
|
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys)
|
rs371302153
|
0.00001
|
NM_001374828.1(ARID1B):c.3236-1G>A
|
rs752642190
|
0.00001
|
NM_001379500.1(COL18A1):c.1765G>A (p.Gly589Arg)
|
rs906225803
|
0.00001
|
NM_001457.4(FLNB):c.7640T>C (p.Ile2547Thr)
|
rs1341381124
|
0.00001
|
NM_001615.4(ACTG2):c.183C>G (p.Ser61Arg)
|
rs1220479216
|
0.00001
|
NM_001692.4(ATP6V1B1):c.497del (p.Thr166fs)
|
rs782152033
|
0.00001
|
NM_001985.3(ETFB):c.58-53_58-52insG
|
rs141529162
|
0.00001
|
NM_002473.6(MYH9):c.1271G>A (p.Arg424Gln)
|
rs1321659356
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_002894.3(RBBP8):c.2692T>C (p.Ter898Gln)
|
rs1409422493
|
0.00001
|
NM_002968.3(SALL1):c.2909T>C (p.Leu970Ser)
|
rs1461765489
|
0.00001
|
NM_002968.3(SALL1):c.602A>G (p.Gln201Arg)
|
rs775143619
|
0.00001
|
NM_003001.5(SDHC):c.405+1G>T
|
rs587776653
|
0.00001
|
NM_003041.4(SLC5A2):c.890T>C (p.Ile297Thr)
|
rs1055355510
|
0.00001
|
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)
|
rs398123697
|
0.00001
|
NM_003361.4(UMOD):c.326T>A (p.Val109Glu)
|
rs780462125
|
0.00001
|
NM_003482.4(KMT2D):c.5248_5250del (p.Glu1750del)
|
rs1403096314
|
0.00001
|
NM_004064.5(CDKN1B):c.13C>T (p.Arg5Ter)
|
rs1349668409
|
0.00001
|
NM_004070.4(CLCNKA):c.73del (p.Cys25fs)
|
rs1557446844
|
0.00001
|
NM_004341.5(CAD):c.1730T>C (p.Leu577Pro)
|
rs1219263474
|
0.00001
|
NM_004341.5(CAD):c.3884G>A (p.Arg1295His)
|
rs1211373184
|
0.00001
|
NM_004525.3(LRP2):c.5716G>T (p.Asp1906Tyr)
|
rs1559022264
|
0.00001
|
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp)
|
rs768210838
|
0.00001
|
NM_004621.6(TRPC6):c.830A>G (p.Tyr277Cys)
|
rs534941786
|
0.00001
|
NM_004924.6(ACTN4):c.497A>G (p.Lys166Arg)
|
rs754477143
|
0.00001
|
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser)
|
rs121913530
|
0.00001
|
NM_005506.4(SCARB2):c.170C>T (p.Pro57Leu)
|
rs1560716152
|
0.00001
|
NM_005529.7(HSPG2):c.11716C>T (p.Arg3906Ter)
|
rs769720495
|
0.00001
|
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)
|
rs369841551
|
0.00001
|
NM_006218.4(PIK3CA):c.1145G>A (p.Arg382Lys)
|
rs587777794
|
0.00001
|
NM_006918.5(SC5D):c.649C>T (p.Gln217Ter)
|
rs370879876
|
0.00001
|
NM_012203.2(GRHPR):c.748A>T (p.Asn250Tyr)
|
rs1284983653
|
0.00001
|
NM_014625.4(NPHS2):c.538G>A (p.Val180Met)
|
rs74315347
|
0.00001
|
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)
|
rs74315348
|
0.00001
|
NM_014639.4(SKIC3):c.188A>G (p.Tyr63Cys)
|
rs1217179767
|
0.00001
|
NM_014875.3(KIF14):c.1725_1746+36del
|
rs1558085373
|
0.00001
|
NM_015102.5(NPHP4):c.2579G>A (p.Gly860Glu)
|
rs1487910110
|
0.00001
|
NM_015330.6(SPECC1L):c.2561-1del
|
rs1569426221
|
0.00001
|
NM_015375.3(DSTYK):c.2528C>T (p.Ser843Leu)
|
rs778586547
|
0.00001
|
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)
|
rs267607038
|
0.00001
|
NM_015599.3(PGM3):c.1126A>C (p.Thr376Pro)
|
rs1562417226
|
0.00001
|
NM_015631.6(TCTN3):c.627+1G>A
|
rs1566074908
|
0.00001
|
NM_015922.3(NSDHL):c.901T>C (p.Tyr301His)
|
rs144110486
|
0.00001
|
NM_016292.3(TRAP1):c.691T>C (p.Trp231Arg)
|
rs1478013745
|
0.00001
|
NM_016327.3(UPB1):c.509A>G (p.Asp170Gly)
|
rs1568989805
|
0.00001
|
NM_016341.4(PLCE1):c.2960A>G (p.His987Arg)
|
rs762245091
|
0.00001
|
NM_016932.5(SIX2):c.859G>A (p.Val287Met)
|
rs773807534
|
0.00001
|
NM_017780.4(CHD7):c.5446T>A (p.Cys1816Ser)
|
rs1563657431
|
0.00001
|
NM_017946.4(FKBP14):c.208_209del (p.Asn70fs)
|
rs1403596738
|
0.00001
|
NM_018051.5(DYNC2I1):c.990+1G>A
|
rs1563114276
|
0.00001
|
NM_018668.5(VPS33B):c.1192C>T (p.Arg398Cys)
|
rs943813904
|
0.00001
|
NM_018668.5(VPS33B):c.96+1G>T
|
rs1567232168
|
0.00001
|
NM_018979.4(WNK1):c.7092del (p.Ser2365fs)
|
rs1565626117
|
0.00001
|
NM_019088.4(PAF1):c.28C>T (p.Gln10Ter)
|
rs1396158186
|
0.00001
|
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr)
|
rs765327224
|
0.00001
|
NM_019892.6(INPP5E):c.877T>G (p.Tyr293Asp)
|
rs1241112128
|
0.00001
|
NM_020401.4(NUP107):c.2176C>T (p.Gln726Ter)
|
rs1565703229
|
0.00001
|
NM_020401.4(NUP107):c.608dup (p.Thr205fs)
|
rs1399129851
|
0.00001
|
NM_020937.4(FANCM):c.1060C>T (p.Gln354Ter)
|
rs1156577591
|
0.00001
|
NM_020937.4(FANCM):c.1969C>T (p.Gln657Ter)
|
rs903442271
|
0.00001
|
NM_024649.5(BBS1):c.1738G>A (p.Ala580Thr)
|
rs367751525
|
0.00001
|
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser)
|
rs1237494778
|
0.00001
|
NM_030662.4(MAP2K2):c.707C>T (p.Pro236Leu)
|
rs1309234276
|
0.00001
|
NM_030787.4(CFHR5):c.1303C>T (p.Arg435Ter)
|
rs758392186
|
0.00001
|
NM_030787.4(CFHR5):c.557C>A (p.Ser186Ter)
|
rs772849641
|
0.00001
|
NM_031885.5(BBS2):c.1112del (p.Asp371fs)
|
rs1472488128
|
0.00001
|
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)
|
rs104886111
|
0.00001
|
NM_033380.3(COL4A5):c.2510-2A>G
|
rs760109866
|
0.00001
|
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)
|
rs747322128
|
0.00001
|
NM_138959.3(VANGL1):c.155_156del (p.Thr52fs)
|
rs1362607560
|
0.00001
|
NM_152384.3(BBS5):c.959del (p.Leu320fs)
|
rs1559126736
|
0.00001
|
NM_153240.5(NPHP3):c.3287T>C (p.Leu1096Pro)
|
rs777276873
|
0.00001
|
NM_153704.6(TMEM67):c.185G>A (p.Cys62Tyr)
|
rs1411871276
|
0.00001
|
NM_153704.6(TMEM67):c.2890A>G (p.Thr964Ala)
|
rs1563486544
|
0.00001
|
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)
|
rs59026483
|
0.00001
|
NM_170784.3(MKKS):c.1127G>T (p.Cys376Phe)
|
rs1029793006
|
0.00001
|
NM_173630.4(RTTN):c.727_728insGAC (p.Asp243delinsGlyHis)
|
rs1568554608
|
0.00001
|
NM_173689.7(CRB2):c.2902_2904dup (p.Ala968dup)
|
rs774240995
|
0.00001
|
NM_173689.7(CRB2):c.533G>A (p.Gly178Asp)
|
rs1322315181
|
0.00001
|
NM_178452.6(DNAAF1):c.3G>A (p.Met1Ile)
|
rs760814451
|
0.00001
|
NM_198076.6(COX20):c.109G>A (p.Gly37Ser)
|
rs1022847823
|
0.00001
|
NM_203486.3(DLL3):c.1081C>T (p.Pro361Ser)
|
rs1568450395
|
0.00001
|
NM_213606.4(SLC16A12):c.1022A>G (p.Asp341Gly)
|
rs1254570734
|
0.00001
|
NM_000020.3(ACVRL1):c.1507C>T (p.Gln503Ter)
|
rs1565597552
|
|
NM_000029.4(AGT):c.499_512dup (p.Cys171Ter)
|
rs1558288004
|
|
NM_000039.3(APOA1):c.524_535dup (p.Ala178_His179insArgAlaArgAla)
|
rs1470277126
|
|
NM_000039.3(APOA1):c.532_533dup (p.His179fs)
|
rs781350389
|
|
NM_000052.7(ATP7A):c.4094A>T (p.Tyr1365Phe)
|
rs1569550339
|
|
NM_000053.4(ATP7B):c.2989G>A (p.Val997Met)
|
rs1566485134
|
|
NM_000053.4(ATP7B):c.3280_3281insGTAT (p.Phe1094fs)
|
rs1566469148
|
|
NM_000053.4(ATP7B):c.3680C>A (p.Ala1227Asp)
|
rs1566451314
|
|
NM_000053.4(ATP7B):c.4090G>C (p.Val1364Leu)
|
rs1566434432
|
|
NM_000059.4(BRCA2):c.1408dup (p.Glu470fs)
|
rs80359284
|
|
NM_000059.4(BRCA2):c.2623_2624del (p.Val875fs)
|
rs876658928
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)
|
rs80358928
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)
|
rs1566260198
|
|
NM_000063.6(C2):c.1102C>T (p.Arg368Ter)
|
rs866130958
|
|
NM_000063.6(C2):c.1260G>A (p.Trp420Ter)
|
rs1562613965
|
|
NM_000067.3(CA2):c.575C>T (p.Thr192Ile)
|
rs369229469
|
|
NM_000069.3(CACNA1S):c.1106G>A (p.Trp369Ter)
|
rs1558076931
|
|
NM_000069.3(CACNA1S):c.1664C>G (p.Ser555Cys)
|
rs1558071888
|
|
NM_000069.3(CACNA1S):c.2491-1G>T
|
rs1558067283
|
|
NM_000069.3(CACNA1S):c.2752G>T (p.Val918Leu)
|
rs1558065059
|
|
NM_000069.3(CACNA1S):c.2755C>T (p.Gln919Ter)
|
rs1558065045
|
|
NM_000069.3(CACNA1S):c.3157G>A (p.Ala1053Thr)
|
rs1558062351
|
|
NM_000069.3(CACNA1S):c.3245A>G (p.Asp1082Gly)
|
rs1558062219
|
|
NM_000069.3(CACNA1S):c.3494T>A (p.Met1165Lys)
|
rs1558061202
|
|
NM_000069.3(CACNA1S):c.3829C>T (p.Leu1277Phe)
|
rs1558057794
|
|
NM_000069.3(CACNA1S):c.3954G>C (p.Arg1318Ser)
|
rs1558056548
|
|
NM_000069.3(CACNA1S):c.4081T>C (p.Phe1361Leu)
|
rs1558056421
|
|
NM_000069.3(CACNA1S):c.4113+1G>A
|
rs1558056376
|
|
NM_000069.3(CACNA1S):c.4679G>T (p.Arg1560Leu)
|
rs372436488
|
|
NM_000069.3(CACNA1S):c.5069del (p.Phe1690fs)
|
rs1558049955
|
|
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)
|
rs550371466
|
|
NM_000069.3(CACNA1S):c.514C>A (p.Pro172Thr)
|
rs370041629
|
|
NM_000069.3(CACNA1S):c.5620T>C (p.Ter1874Arg)
|
rs1558047318
|
|
NM_000069.3(CACNA1S):c.791_812dup (p.Ile272fs)
|
rs1558079148
|
|
NM_000085.5(CLCNKB):c.1391G>C (p.Gly464Ala)
|
rs763456347
|
|
NM_000085.5(CLCNKB):c.616G>T (p.Ala206Ser)
|
rs1557468183
|
|
NM_000085.5(CLCNKB):c.865G>A (p.Gly289Arg)
|
rs1557469252
|
|
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys)
|
rs1559873550
|
|
NM_000091.5(COL4A3):c.1087G>A (p.Gly363Arg)
|
rs1559875465
|
|
NM_000091.5(COL4A3):c.1141G>C (p.Gly381Arg)
|
rs1559876538
|
|
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg)
|
rs1559878824
|
|
NM_000091.5(COL4A3):c.1350_1352delinsACG (p.Asp450_His451delinsGluArg)
|
rs1559881247
|
|
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)
|
rs772958162
|
|
NM_000091.5(COL4A3):c.1504+1G>A
|
rs1559882199
|
|
NM_000091.5(COL4A3):c.190G>C (p.Gly64Arg)
|
rs917643323
|
|
NM_000091.5(COL4A3):c.2647G>A (p.Gly883Arg)
|
rs1559897288
|
|
NM_000091.5(COL4A3):c.2810G>A (p.Gly937Glu)
|
rs1559899600
|
|
NM_000091.5(COL4A3):c.2881+1G>T
|
rs1559899827
|
|
NM_000091.5(COL4A3):c.3070+2T>C
|
rs1173685095
|
|
NM_000091.5(COL4A3):c.3142G>C (p.Gly1048Arg)
|
rs1559906448
|
|
NM_000091.5(COL4A3):c.3212G>A (p.Gly1071Glu)
|
rs765128550
|
|
NM_000091.5(COL4A3):c.3275G>T (p.Gly1092Val)
|
rs1559909513
|
|
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)
|
rs1175052474
|
|
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser)
|
rs920061910
|
|
NM_000091.5(COL4A3):c.4010G>A (p.Gly1337Glu)
|
rs779855573
|
|
NM_000091.5(COL4A3):c.4501C>T (p.Pro1501Ser)
|
rs1195144676
|
|
NM_000091.5(COL4A3):c.4552G>C (p.Asp1518His)
|
rs1559923319
|
|
NM_000091.5(COL4A3):c.4985G>A (p.Cys1662Tyr)
|
rs1339780318
|
|
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu)
|
rs1425230568
|
|
NM_000091.5(COL4A3):c.88G>C (p.Gly30Arg)
|
rs1559854632
|
|
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp)
|
rs1559872489
|
|
NM_000092.5(COL4A4):c.1108G>A (p.Gly370Arg)
|
rs1559617617
|
|
NM_000092.5(COL4A4):c.1423G>T (p.Gly475Cys)
|
rs1371408968
|
|
NM_000092.5(COL4A4):c.1623+1G>A
|
rs1559590037
|
|
NM_000092.5(COL4A4):c.1889del (p.Pro630fs)
|
rs757688183
|
|
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs)
|
rs1553643669
|
|
NM_000092.5(COL4A4):c.2528G>A (p.Gly843Glu)
|
rs1559515185
|
|
NM_000092.5(COL4A4):c.2545+2T>G
|
rs1559515075
|
|
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs)
|
rs1559508134
|
|
NM_000092.5(COL4A4):c.282_283del (p.Asp96fs)
|
rs1559677146
|
|
NM_000092.5(COL4A4):c.2870G>T (p.Gly957Val)
|
rs1559503562
|
|
NM_000092.5(COL4A4):c.3109_3110del (p.Leu1037fs)
|
rs1559500363
|
|
NM_000092.5(COL4A4):c.3861_3862insTC (p.Arg1288fs)
|
rs1559450594
|
|
NM_000092.5(COL4A4):c.4082-1G>T
|
rs1559438651
|
|
NM_000092.5(COL4A4):c.4175G>C (p.Gly1392Ala)
|
rs1559429663
|
|
NM_000092.5(COL4A4):c.4311_4315dup (p.Gly1439fs)
|
rs1559406956
|
|
NM_000092.5(COL4A4):c.4429G>T (p.Glu1477Ter)
|
rs1367906290
|
|
NM_000092.5(COL4A4):c.4621_4624dup (p.Trp1542fs)
|
rs1559396675
|
|
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs)
|
rs1206142672
|
|
NM_000092.5(COL4A4):c.4768C>T (p.Gln1590Ter)
|
rs1559395617
|
|
NM_000093.5(COL5A1):c.4366G>A (p.Gly1456Ser)
|
rs1564481153
|
|
NM_000093.5(COL5A1):c.4367G>T (p.Gly1456Val)
|
rs1564481157
|
|
NM_000093.5(COL5A1):c.4598C>T (p.Pro1533Leu)
|
rs1564484099
|
|
NM_000093.5(COL5A1):c.4619G>T (p.Gly1540Val)
|
rs1564485256
|
|
NM_000098.3(CPT2):c.1654T>C (p.Phe552Leu)
|
rs1557719426
|
|
NM_000098.3(CPT2):c.1675C>G (p.Leu559Val)
|
rs1557719466
|
|
NM_000098.3(CPT2):c.1718T>G (p.Leu573Arg)
|
rs1557719507
|
|
NM_000124.4(ERCC6):c.2720T>A (p.Ile907Lys)
|
rs1564419333
|
|
NM_000124.4(ERCC6):c.809_810delinsAT (p.Gly270Asp)
|
rs1564442704
|
|
NM_000124.4(ERCC6):c.809del (p.Gly270fs)
|
rs923535659
|
|
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)
|
rs1390620949
|
|
NM_000135.4(FANCA):c.3767T>C (p.Leu1256Pro)
|
rs1567596255
|
|
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs)
|
rs1348367722
|
|
NM_000136.3(FANCC):c.494_495del (p.His165fs)
|
rs1564719151
|
|
NM_000136.3(FANCC):c.826del (p.Phe275_Ile276insTer)
|
rs1564678441
|
|
NM_000137.4(FAH):c.816T>G (p.Phe272Leu)
|
rs886286986
|
|
NM_000141.5(FGFR2):c.1717C>T (p.Arg573Ter)
|
rs1564875577
|
|
NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp)
|
rs1564875549
|
|
NM_000141.5(FGFR2):c.560C>T (p.Pro187Leu)
|
rs1564972481
|
|
NM_000142.5(FGFR3):c.1366G>A (p.Glu456Lys)
|
rs1201375716
|
|
NM_000142.5(FGFR3):c.3G>T (p.Met1Ile)
|
rs1560384106
|
|
NM_000151.4(G6PC1):c.244C>T (p.Gln82Ter)
|
rs1567703735
|
|
NM_000151.4(G6PC1):c.689T>C (p.Leu230Pro)
|
rs1567706328
|
|
NM_000159.4(GCDH):c.451C>T (p.Pro151Ser)
|
rs1223762032
|
|
NM_000159.4(GCDH):c.557G>C (p.Ser186Thr)
|
rs763739291
|
|
NM_000159.4(GCDH):c.571A>G (p.Met191Val)
|
rs1568427483
|
|
NM_000168.6(GLI3):c.4007_4009delinsAGT (p.Gly1336_Ala1337delinsGluSer)
|
rs1562657448
|
|
NM_000169.3(GLA):c.151A>C (p.Met51Leu)
|
rs1569306069
|
|
NM_000169.3(GLA):c.548G>A (p.Gly183Asp)
|
rs398123212
|
|
NM_000169.3(GLA):c.730G>C (p.Asp244His)
|
rs727503948
|
|
NM_000169.3(GLA):c.926C>T (p.Ala309Val)
|
rs869312155
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs)
|
rs1064794384
|
|
NM_000186.4(CFH):c.1312_1314del (p.Pro438del)
|
rs1558162151
|
|
NM_000186.4(CFH):c.2027G>A (p.Gly676Glu)
|
rs1558178947
|
|
NM_000186.4(CFH):c.2517C>A (p.Cys839Ter)
|
rs1362306576
|
|
NM_000186.4(CFH):c.402G>C (p.Trp134Cys)
|
rs997127130
|
|
NM_000186.4(CFH):c.958T>C (p.Cys320Arg)
|
rs1558159702
|
|
NM_000187.4(HGD):c.1288C>A (p.Leu430Ile)
|
rs1488335518
|
|
NM_000187.4(HGD):c.704A>C (p.Glu235Ala)
|
rs1559786799
|
|
NM_000195.5(HPS1):c.1189C>T (p.Gln397Ter)
|
rs1564838831
|
|
NM_000197.2(HSD17B3):c.385+1G>A
|
rs1564030845
|
|
NM_000197.2(HSD17B3):c.8dup (p.Asp3fs)
|
rs1564069918
|
|
NM_000204.5(CFI):c.776G>A (p.Cys259Tyr)
|
rs1561301439
|
|
NM_000208.4(INSR):c.101-1G>A
|
rs1568229439
|
|
NM_000208.4(INSR):c.2384_2387dup (p.Pro797fs)
|
rs1568441899
|
|
NM_000208.4(INSR):c.307T>C (p.Phe103Leu)
|
rs1568229181
|
|
NM_000210.4(ITGA6):c.1301A>C (p.Tyr434Ser)
|
rs769943700
|
|
NM_000210.4(ITGA6):c.400C>T (p.Arg134Ter)
|
rs866151033
|
|
NM_000210.4(ITGA6):c.985G>A (p.Gly329Arg)
|
rs920885330
|
|
NM_000213.5(ITGB4):c.309_310delinsAG (p.Gln104Glu)
|
rs1568343603
|
|
NM_000213.5(ITGB4):c.4256_4276dup (p.Asp1419_Lys1425dup)
|
rs1269435681
|
|
NM_000213.5(ITGB4):c.4415_4418del (p.His1472fs)
|
rs1568383493
|
|
NM_000213.5(ITGB4):c.887A>C (p.Tyr296Ser)
|
rs1307780170
|
|
NM_000214.3(JAG1):c.148C>T (p.Gln50Ter)
|
rs886039539
|
|
NM_000216.4(ANOS1):c.397dup (p.Asp133fs)
|
rs1569059249
|
|
NM_000217.3(KCNA1):c.803C>A (p.Thr268Lys)
|
rs1565433356
|
|
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs)
|
rs397508083
|
|
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)
|
rs199473460
|
|
NM_000228.3(LAMB3):c.2271AGG[3] (p.Gly761del)
|
rs752460751
|
|
NM_000228.3(LAMB3):c.3229-1G>T
|
rs1558146432
|
|
NM_000228.3(LAMB3):c.3432_3434delinsGGT (p.Ala1145Val)
|
rs1558145407
|
|
NM_000243.3(MEFV):c.414_415delinsGT (p.Ala139Ser)
|
rs1567237666
|
|
NM_000255.4(MMUT):c.1837C>A (p.Arg613Ser)
|
rs573727541
|
|
NM_000255.4(MMUT):c.1936del (p.Asp646fs)
|
rs1561952070
|
|
NM_000255.4(MMUT):c.317C>T (p.Thr106Ile)
|
rs1561959708
|
|
NM_000255.4(MMUT):c.833C>T (p.Ala278Val)
|
rs1561958387
|
|
NM_000255.4(MMUT):c.912-1G>A
|
rs1561957527
|
|
NM_000256.3(MYBPC3):c.3815-1G>A
|
rs397516044
|
|
NM_000276.4(OCRL):c.952C>A (p.Arg318Ser)
|
rs137853263
|
|
NM_000278.5(PAX2):c.113G>A (p.Arg38Lys)
|
rs1564706226
|
|
NM_000278.5(PAX2):c.219C>G (p.Tyr73Ter)
|
rs139724326
|
|
NM_000278.5(PAX2):c.220G>T (p.Glu74Ter)
|
rs754146050
|
|
NM_000278.5(PAX2):c.265A>T (p.Lys89Ter)
|
rs1564706973
|
|
NM_000278.5(PAX2):c.433C>T (p.Gln145Ter)
|
rs1564722420
|
|
NM_000286.3(PEX12):c.535del (p.Leu179fs)
|
rs1567730805
|
|
NM_000287.4(PEX6):c.2456GAG[1] (p.Gly820del)
|
rs1561819834
|
|
NM_000287.4(PEX6):c.2596A>C (p.Lys866Gln)
|
rs1561819432
|
|
NM_000287.4(PEX6):c.2741T>C (p.Leu914Pro)
|
rs1561819049
|
|
NM_000291.4(PGK1):c.906_936+12del
|
rs1569550892
|
|
NM_000297.4(PKD2):c.1061A>G (p.Asp354Gly)
|
rs1560608801
|
|
NM_000297.4(PKD2):c.1548+1G>A
|
rs752024467
|
|
NM_000297.4(PKD2):c.203dup (p.Ala69fs)
|
rs1187336837
|
|
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del)
|
rs778896252
|
|
NM_000297.4(PKD2):c.2240+1G>A
|
rs1553927783
|
|
NM_000297.4(PKD2):c.2241-2A>G
|
rs1560626499
|
|
NM_000297.4(PKD2):c.2274_2275dup (p.Phe759fs)
|
rs1560626561
|
|
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter)
|
rs555242193
|
|
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)
|
rs755226061
|
|
NM_000297.4(PKD2):c.538dup (p.Leu180fs)
|
rs1371793191
|
|
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)
|
rs200001068
|
|
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)
|
rs749004212
|
|
NM_000302.4(PLOD1):c.84_105dup (p.Lys36delinsPheSerProHisGlyGlyHisTer)
|
rs1557485448
|
|
NM_000314.8(PTEN):c.257C>T (p.Ala86Val)
|
rs1564829783
|
|
NM_000314.8(PTEN):c.505C>G (p.Pro169Ala)
|
rs1564837747
|
|
NM_000316.3(PTH1R):c.26_27delinsTT (p.Gly9Val)
|
rs1559527551
|
|
NM_000334.4(SCN4A):c.1173del (p.Phe392fs)
|
rs1235665641
|
|
NM_000334.4(SCN4A):c.1642T>C (p.Trp548Arg)
|
rs1001051115
|
|
NM_000334.4(SCN4A):c.1946T>C (p.Ile649Thr)
|
rs1191281164
|
|
NM_000334.4(SCN4A):c.2254C>T (p.Leu752Phe)
|
rs1567823019
|
|
NM_000334.4(SCN4A):c.268_269del (p.Lys90fs)
|
rs1567829776
|
|
NM_000334.4(SCN4A):c.3992C>T (p.Pro1331Leu)
|
rs1567817335
|
|
NM_000334.4(SCN4A):c.4784C>T (p.Ala1595Val)
|
rs1567816203
|
|
NM_000334.4(SCN4A):c.5188T>C (p.Cys1730Arg)
|
rs1567815888
|
|
NM_000334.4(SCN4A):c.619A>G (p.Thr207Ala)
|
rs1567829142
|
|
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter)
|
rs1553695764
|
|
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter)
|
rs794728849
|
|
NM_000338.3(SLC12A1):c.1826C>G (p.Ser609Cys)
|
rs1566841669
|
|
NM_000338.3(SLC12A1):c.1942+1G>T
|
rs1566841776
|
|
NM_000338.3(SLC12A1):c.2773C>T (p.Leu925Phe)
|
rs1566857408
|
|
NM_000338.3(SLC12A1):c.3248C>G (p.Pro1083Arg)
|
rs1566863357
|
|
NM_000341.4(SLC3A1):c.1094G>A (p.Arg365Gln)
|
rs567478582
|
|
NM_000341.4(SLC3A1):c.1701G>T (p.Arg567Ser)
|
rs904926333
|
|
NM_000341.4(SLC3A1):c.194A>G (p.Tyr65Cys)
|
rs1030612485
|
|
NM_000341.4(SLC3A1):c.334C>T (p.Pro112Ser)
|
rs369145783
|
|
NM_000341.4(SLC3A1):c.766-1G>T
|
rs1558455633
|
|
NM_000341.4(SLC3A1):c.777T>G (p.Tyr259Ter)
|
rs1558455640
|
|
NM_000341.4(SLC3A1):c.918G>T (p.Lys306Asn)
|
rs1558461991
|
|
NM_000342.4(SLC4A1):c.1541G>A (p.Arg514His)
|
rs745839527
|
|
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)
|
rs121912745
|
|
NM_000342.4(SLC4A1):c.2294T>C (p.Leu765Pro)
|
rs1567829187
|
|
NM_000346.4(SOX9):c.709_710dup (p.Pro238fs)
|
rs1567911132
|
|
NM_000373.4(UMPS):c.2T>C (p.Met1Thr)
|
rs1229286305
|
|
NM_000373.4(UMPS):c.983-2A>G
|
rs1559906084
|
|
NM_000379.4(XDH):c.3108del (p.Thr1037fs)
|
rs1558678570
|
|
NM_000379.4(XDH):c.3898C>G (p.Pro1300Ala)
|
rs1339914096
|
|
NM_000388.4(CASR):c.1459G>A (p.Gly487Arg)
|
rs1559965137
|
|
NM_000388.4(CASR):c.2165del (p.Asn722fs)
|
rs1559968729
|
|
NM_000404.4(GLB1):c.1191del (p.Ile398fs)
|
rs1559385898
|
|
NM_000404.4(GLB1):c.281G>A (p.Gly94Glu)
|
rs1430354883
|
|
NM_000414.4(HSD17B4):c.1133G>A (p.Gly378Glu)
|
rs1561463583
|
|
NM_000414.4(HSD17B4):c.1585C>T (p.Pro529Ser)
|
rs1561485692
|
|
NM_000414.4(HSD17B4):c.557A>T (p.Asn186Ile)
|
rs1339819940
|
|
NM_000414.4(HSD17B4):c.904del (p.Lys301_Ile302insTer)
|
rs1561460929
|
|
NM_000435.3(NOTCH3):c.1153G>A (p.Gly385Ser)
|
rs1568360640
|
|
NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr)
|
rs758997426
|
|
NM_000435.3(NOTCH3):c.21CCG[4] (p.Arg13del)
|
rs894374843
|
|
NM_000435.3(NOTCH3):c.2557T>C (p.Cys853Arg)
|
rs1568357588
|
|
NM_000435.3(NOTCH3):c.3488A>T (p.Asp1163Val)
|
rs1568354937
|
|
NM_000441.2(SLC26A4):c.1383G>T (p.Met461Ile)
|
rs1367992231
|
|
NM_000441.2(SLC26A4):c.1412T>C (p.Leu471Pro)
|
rs1562835716
|
|
NM_000441.2(SLC26A4):c.2047T>G (p.Phe683Val)
|
rs959216005
|
|
NM_000455.5(STK11):c.1260_1290del (p.Lys423fs)
|
rs1568717494
|
|
NM_000455.5(STK11):c.359A>G (p.Glu120Gly)
|
rs1205003744
|
|
NM_000455.5(STK11):c.389A>G (p.Glu130Gly)
|
rs1568705335
|
|
NM_000455.5(STK11):c.842C>A (p.Pro281Gln)
|
rs121913322
|
|
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
|
|
|
NM_000458.4(HNF1B):c.58G>A (p.Gly20Arg)
|
rs1052557621
|
|
NM_000458.4(HNF1B):c.778G>A (p.Glu260Lys)
|
rs1568665613
|
|
NM_000458.4(HNF1B):c.853G>A (p.Gly285Ser)
|
|
|
NM_000466.3(PEX1):c.2234G>T (p.Arg745Ile)
|
rs1562854190
|
|
NM_000466.3(PEX1):c.3115del (p.Thr1039fs)
|
rs1562846257
|
|
NM_000466.3(PEX1):c.3128C>T (p.Thr1043Ile)
|
rs996039336
|
|
NM_000475.5(NR0B1):c.1354A>T (p.Ile452Phe)
|
rs1569267996
|
|
NM_000475.5(NR0B1):c.307_308delinsTT (p.Pro103Leu)
|
rs1569269085
|
|
NM_000475.5(NR0B1):c.593_594delinsAA (p.Arg198Gln)
|
rs1569268891
|
|
NM_000478.6(ALPL):c.1373_1374delinsGA (p.Asp458Gly)
|
rs1558558773
|
|
NM_000478.6(ALPL):c.810G>A (p.Trp270Ter)
|
rs1558553380
|
|
NM_000486.6(AQP2):c.613T>C (p.Trp205Arg)
|
rs1565637077
|
|
NM_000490.5(AVP):c.322+2T>G
|
rs1568733815
|
|
NM_000490.5(AVP):c.92G>A (p.Arg31Lys)
|
rs752961032
|
|
NM_000503.6(EYA1):c.1597+1G>A
|
rs1563630117
|
|
NM_000503.6(EYA1):c.1597G>C (p.Gly533Arg)
|
rs1563630128
|
|
NM_000503.6(EYA1):c.418+1G>A
|
rs886042006
|
|
NM_000503.6(EYA1):c.640G>A (p.Asp214Asn)
|
rs1563422500
|
|
NM_000508.5(FGA):c.2153C>A (p.Thr718Asn)
|
rs1560823652
|
|
NM_000508.5(FGA):c.2434T>C (p.Cys812Arg)
|
rs1560823354
|
|
NM_000516.7(GNAS):c.-178_-171del
|
rs1420599206
|
|
NM_000522.5(HOXA13):c.351_377del (p.Ala125_Ala133del)
|
rs1195806602
|
|
NM_000522.5(HOXA13):c.357_392del (p.Ala122_Ala133del)
|
rs1235002831
|
|
NM_000522.5(HOXA13):c.357_395del (p.Ala121_Ala133del)
|
rs1428793938
|
|
NM_000522.5(HOXA13):c.360_377del (p.Ala128_Ala133del)
|
rs35861510
|
|
NM_000522.5(HOXA13):c.421_422insAGGCGGGCC (p.Gly140_Pro141insGlnAlaGly)
|
rs35599078
|
|
NM_000523.4(HOXD13):c.168GGC[8] (p.Ala69_Ala71dup)
|
rs3832095
|
|
NM_000523.4(HOXD13):c.560C>G (p.Ala187Gly)
|
rs1431472260
|
|
NM_000523.4(HOXD13):c.575_577del (p.Phe192del)
|
rs1559108268
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
NM_000535.7(PMS2):c.1239dup (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.706-2A>T
|
rs745487791
|
|
NM_000537.4(REN):c.116T>A (p.Met39Lys)
|
rs1558245626
|
|
NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter)
|
rs1566092307
|
|
NM_000545.8(HNF1A):c.242T>C (p.Phe81Ser)
|
rs1565880245
|
|
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln)
|
rs753998395
|
|
NM_000545.8(HNF1A):c.59G>T (p.Gly20Val)
|
rs1566092362
|
|
NM_000545.8(HNF1A):c.787C>T (p.Arg263Cys)
|
rs771108132
|
|
NM_000545.8(HNF1A):c.788G>A (p.Arg263His)
|
rs1057520504
|
|
NM_000546.6(TP53):c.833C>G (p.Pro278Arg)
|
rs876659802
|
|
NM_000548.5(TSC2):c.1585G>T (p.Asp529Tyr)
|
rs1567438280
|
|
NM_000548.5(TSC2):c.1724T>C (p.Leu575Pro)
|
rs1567456901
|
|
NM_000548.5(TSC2):c.2218A>G (p.Met740Val)
|
rs757345150
|
|
NM_000548.5(TSC2):c.2870dup (p.Leu957fs)
|
rs1567490680
|
|
NM_000548.5(TSC2):c.3137C>T (p.Pro1046Leu)
|
rs1567497682
|
|
NM_000548.5(TSC2):c.4008_4010del (p.Ser1338del)
|
rs1567520255
|
|
NM_000548.5(TSC2):c.5042A>G (p.Asn1681Ser)
|
rs1567128450
|
|
NM_000548.5(TSC2):c.5230C>T (p.Leu1744Phe)
|
rs1567132207
|
|
NM_000685.5(AGTR1):c.284_291del (p.Pro95fs)
|
rs1431071473
|
|
NM_000782.5(CYP24A1):c.259-2A>G
|
rs1366689110
|
|
NM_000782.5(CYP24A1):c.375C>A (p.Tyr125Ter)
|
rs775180997
|
|
NM_000789.4(ACE):c.1743dup (p.Gln582fs)
|
rs1568039403
|
|
NM_000789.4(ACE):c.1922-309C>A
|
rs532464035
|
|
NM_000789.4(ACE):c.1922-336dup
|
rs1156450082
|
|
NM_000789.4(ACE):c.2173C>T (p.Gln725Ter)
|
rs139263584
|
|
NM_000789.4(ACE):c.2192_2193inv (p.Ala731Val)
|
|
|
NM_000789.4(ACE):c.3335A>G (p.Asp1112Gly)
|
rs1568047328
|
|
NM_000789.4(ACE):c.3538_3539delinsGT (p.Pro1180Val)
|
rs1568048955
|
|
NM_000901.5(NR3C2):c.2018G>A (p.Arg673Gln)
|
rs1420676853
|
|
NM_000939.4(POMC):c.293_294insAGGCAGCGG (p.Ser98delinsArgGlySerGly)
|
rs1558628620
|
|
NM_000969.5(RPL5):c.302C>G (p.Thr101Ser)
|
rs1557439964
|
|
NM_001002295.2(GATA3):c.1055dup (p.Asn352fs)
|
rs1564405153
|
|
NM_001002295.2(GATA3):c.53T>G (p.Val18Gly)
|
rs985445864
|
|
NM_001003787.4(STRADA):c.1100+54_1100+55delinsTA
|
rs1568169847
|
|
NM_001003787.4(STRADA):c.31dup (p.Ile11fs)
|
rs1568212478
|
|
NM_001003841.3(SLC6A19):c.1705G>T (p.Glu569Ter)
|
rs182081474
|
|
NM_001003841.3(SLC6A19):c.284_300dup (p.Leu101fs)
|
rs1561162959
|
|
NM_001003841.3(SLC6A19):c.968C>T (p.Ser323Phe)
|
rs1561167578
|
|
NM_001005242.3(PKP2):c.1379-2047_1379-2043del
|
rs775995156
|
|
NM_001009944.3(PKD1):c.10151C>G (p.Ser3384Ter)
|
rs1383556063
|
|
NM_001009944.3(PKD1):c.1039_1045del (p.Gly347fs)
|
rs1567217194
|
|
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)
|
rs1064794206
|
|
NM_001009944.3(PKD1):c.1047_1049del (p.Asp349_Val350delinsGlu)
|
rs1567217173
|
|
NM_001009944.3(PKD1):c.10940G>A (p.Arg3647Gln)
|
rs1415072762
|
|
NM_001009944.3(PKD1):c.10998del (p.Arg3666fs)
|
rs1567157447
|
|
NM_001009944.3(PKD1):c.11251_11266del (p.Gln3751fs)
|
rs1567154939
|
|
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp)
|
rs1167476946
|
|
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs)
|
rs1567153758
|
|
NM_001009944.3(PKD1):c.11412-2A>C
|
rs1555445771
|
|
NM_001009944.3(PKD1):c.11868_11869insACT (p.Leu3956_Gly3957insThr)
|
rs1567149662
|
|
NM_001009944.3(PKD1):c.11986_12000del (p.Phe3996_Val4000del)
|
rs1567148933
|
|
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)
|
rs766551411
|
|
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)
|
rs777269070
|
|
NM_001009944.3(PKD1):c.1206_1207del (p.His403fs)
|
rs1567216675
|
|
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)
|
rs199476094
|
|
NM_001009944.3(PKD1):c.12444G>C (p.Glu4148Asp)
|
rs1567145638
|
|
NM_001009944.3(PKD1):c.12445-2A>T
|
rs1555444334
|
|
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys)
|
rs1567216536
|
|
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
|
rs755496450
|
|
NM_001009944.3(PKD1):c.12718G>T (p.Glu4240Ter)
|
rs1567143705
|
|
NM_001009944.3(PKD1):c.1286G>T (p.Trp429Leu)
|
rs1567216472
|
|
NM_001009944.3(PKD1):c.1420C>T (p.Gln474Ter)
|
rs1567215646
|
|
NM_001009944.3(PKD1):c.1439del (p.Pro480fs)
|
rs1567215590
|
|
NM_001009944.3(PKD1):c.1722+1G>A
|
rs1567214706
|
|
NM_001009944.3(PKD1):c.1723-2A>G
|
rs1567214052
|
|
NM_001009944.3(PKD1):c.1903dup (p.Gln635fs)
|
rs1567213083
|
|
NM_001009944.3(PKD1):c.2020_2025dup (p.Gly674_Leu675dup)
|
rs1567212718
|
|
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.2098-1G>C
|
rs1567211807
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2298_2308del (p.Cys767fs)
|
rs1567211181
|
|
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs)
|
rs1567210630
|
|
NM_001009944.3(PKD1):c.275del (p.Ala92fs)
|
rs1567219735
|
|
NM_001009944.3(PKD1):c.2966_2967insCC (p.Ala990fs)
|
rs1567207841
|
|
NM_001009944.3(PKD1):c.305_307del (p.Lys102del)
|
rs1567219527
|
|
NM_001009944.3(PKD1):c.3128del (p.Val1043fs)
|
rs1567206632
|
|
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs)
|
rs1567204146
|
|
NM_001009944.3(PKD1):c.3749G>A (p.Gly1250Asp)
|
rs1567202673
|
|
NM_001009944.3(PKD1):c.384del (p.Glu128fs)
|
rs1567219155
|
|
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)
|
rs747362311
|
|
NM_001009944.3(PKD1):c.4110_4113del (p.His1369_Tyr1370insTer)
|
rs1567201338
|
|
NM_001009944.3(PKD1):c.4127T>C (p.Val1376Ala)
|
rs753120006
|
|
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)
|
rs1567200516
|
|
NM_001009944.3(PKD1):c.4319_4321del (p.Ser1440del)
|
rs1567200450
|
|
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter)
|
rs1264176877
|
|
NM_001009944.3(PKD1):c.5707C>T (p.Gln1903Ter)
|
rs942694907
|
|
NM_001009944.3(PKD1):c.5824del (p.Arg1942fs)
|
rs1567195285
|
|
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter)
|
rs1567195059
|
|
NM_001009944.3(PKD1):c.5937C>A (p.Cys1979Ter)
|
rs754333013
|
|
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter)
|
rs1555454739
|
|
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)
|
rs1555454411
|
|
NM_001009944.3(PKD1):c.6508dup (p.Glu2170fs)
|
rs1567192623
|
|
NM_001009944.3(PKD1):c.7274del (p.Gly2425fs)
|
rs1567186399
|
|
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)
|
rs2432403
|
|
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter)
|
rs1567186165
|
|
NM_001009944.3(PKD1):c.7336_7338del (p.Phe2446del)
|
rs1567186120
|
|
NM_001009944.3(PKD1):c.741_742dup (p.Cys248fs)
|
rs1567218104
|
|
NM_001009944.3(PKD1):c.7490-2A>T
|
rs1567185163
|
|
NM_001009944.3(PKD1):c.7493G>A (p.Trp2498Ter)
|
rs1567185138
|
|
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)
|
rs797044902
|
|
NM_001009944.3(PKD1):c.755dup (p.Pro253fs)
|
rs1352019198
|
|
NM_001009944.3(PKD1):c.7646_7648del (p.Val2549del)
|
rs1567184420
|
|
NM_001009944.3(PKD1):c.8017-2A>G
|
rs1567180640
|
|
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter)
|
rs1555451368
|
|
NM_001009944.3(PKD1):c.8423T>C (p.Ile2808Thr)
|
rs1567177764
|
|
NM_001009944.3(PKD1):c.8427del (p.Glu2810fs)
|
rs1567177760
|
|
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro)
|
rs1567177684
|
|
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter)
|
rs1567176750
|
|
NM_001009944.3(PKD1):c.9067_9123del (p.Met3023_Ala3041del)
|
rs1567174543
|
|
NM_001009944.3(PKD1):c.9231dup (p.Met3078fs)
|
rs1567173968
|
|
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)
|
rs1567173924
|
|
NM_001009944.3(PKD1):c.9518del (p.Pro3173fs)
|
rs1567171182
|
|
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter)
|
rs1485297878
|
|
NM_001009944.3(PKD1):c.9558C>G (p.His3186Gln)
|
rs765094547
|
|
NM_001009944.3(PKD1):c.9563A>T (p.Asn3188Ile)
|
rs1567171059
|
|
NM_001009944.3(PKD1):c.964_965dup (p.His323fs)
|
rs1567217428
|
|
NM_001009944.3(PKD1):c.9914_9915del (p.Ser3305fs)
|
rs1567169638
|
|
NM_001009994.3(RIPPLY2):c.240-1G>C
|
rs374534967
|
|
NM_001009999.3(KDM1A):c.1817T>C (p.Leu606Pro)
|
rs1557596012
|
|
NM_001009999.3(KDM1A):c.360C>G (p.Tyr120Ter)
|
rs1282208764
|
|
NM_001017420.3(ESCO2):c.151CAA[1] (p.Gln52del)
|
rs1563468411
|
|
NM_001018113.3(FANCB):c.-70-1G>C
|
rs1569093264
|
|
NM_001018113.3(FANCB):c.1668del (p.Asp557fs)
|
rs1569083679
|
|
NM_001018115.3(FANCD2):c.356_361del (p.Arg119_Leu120del)
|
rs1559370629
|
|
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)
|
rs745340459
|
|
NM_001029.5(RPS26):c.-101C>T
|
rs868693078
|
|
NM_001031681.2(CTNS):c.682-5_682-4insCCAGCGCGGTGG
|
|
|
NM_001031725.6(DDX59):c.1136del (p.Gln379fs)
|
rs1403300887
|
|
NM_001034116.2(EIF2B4):c.1365T>A (p.Asn455Lys)
|
rs1558632613
|
|
NM_001034116.2(EIF2B4):c.670G>T (p.Ala224Ser)
|
rs1558636529
|
|
NM_001038.6(SCNN1A):c.1000_1002delinsACC (p.Ala334Thr)
|
rs1565479131
|
|
NM_001038.6(SCNN1A):c.139_140delinsCT (p.Ala47Leu)
|
rs1565488558
|
|
NM_001038.6(SCNN1A):c.69del (p.Asn24fs)
|
rs1565488675
|
|
NM_001039958.2(MESP2):c.956_957insAG (p.Leu320fs)
|
rs1567149972
|
|
NM_001040167.2(LFNG):c.197_198delinsTT (p.Ala66Val)
|
rs1562551243
|
|
NM_001040716.2(PC):c.1517A>C (p.His506Pro)
|
rs1565216103
|
|
NM_001040716.2(PC):c.2231C>T (p.Ala744Val)
|
rs1565212112
|
|
NM_001040716.2(PC):c.2949_2952dup (p.Leu985fs)
|
rs1565209022
|
|
NM_001041.4(SI):c.1271T>A (p.Ile424Asn)
|
rs1560012386
|
|
NM_001041.4(SI):c.1347ACA[1] (p.Gln450del)
|
rs1446666305
|
|
NM_001041.4(SI):c.1849dup (p.Thr617fs)
|
rs1560006328
|
|
NM_001041.4(SI):c.2273C>A (p.Pro758His)
|
rs758287074
|
|
NM_001041.4(SI):c.2353G>C (p.Asp785His)
|
rs1560001335
|
|
NM_001041.4(SI):c.2654_2657del (p.Asp885fs)
|
rs1221816681
|
|
NM_001041.4(SI):c.2764_2767del (p.Asn922fs)
|
rs1559997823
|
|
NM_001041.4(SI):c.3482dup (p.Asn1161fs)
|
rs1316317368
|
|
NM_001041.4(SI):c.3505A>G (p.Asn1169Asp)
|
rs1559991401
|
|
NM_001041.4(SI):c.3865G>A (p.Gly1289Arg)
|
rs1559990351
|
|
NM_001041.4(SI):c.528T>A (p.Tyr176Ter)
|
rs1560016661
|
|
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)
|
rs199474746
|
|
NM_001042492.3(NF1):c.3646G>T (p.Gly1216Cys)
|
rs1567851424
|
|
NM_001042492.3(NF1):c.6147+1G>A
|
rs1060500296
|
|
NM_001042492.3(NF1):c.6535C>T (p.Arg2179Cys)
|
rs878853908
|
|
NM_001042492.3(NF1):c.7442G>T (p.Gly2481Val)
|
rs786202540
|
|
NM_001042681.2(RERE):c.1312T>C (p.Trp438Arg)
|
rs1557591383
|
|
NM_001042681.2(RERE):c.1313G>T (p.Trp438Leu)
|
rs1557591380
|
|
NM_001042681.2(RERE):c.1618G>T (p.Gly540Cys)
|
rs748973740
|
|
NM_001042681.2(RERE):c.3039dup (p.Pro1014fs)
|
rs1557586047
|
|
NM_001042681.2(RERE):c.3573_3574insAAGGAGCGGGAGCGGGAG (p.Glu1191_Arg1192insLysGluArgGluArgGlu)
|
rs1553154744
|
|
NM_001042681.2(RERE):c.3910_3939del (p.Leu1304_Glu1313del)
|
rs1557583071
|
|
NM_001042681.2(RERE):c.42CCGGGACCGAGA[3] (p.14DR[6])
|
rs765195788
|
|
NM_001065.4(TNFRSF1A):c.1189C>T (p.Arg397Cys)
|
rs1565465664
|
|
NM_001077365.2(POMT1):c.1062G>T (p.Trp354Cys)
|
rs1564354702
|
|
NM_001079.4(ZAP70):c.1643T>G (p.Val548Gly)
|
rs1559329905
|
|
NM_001079.4(ZAP70):c.3G>T (p.Met1Ile)
|
rs1559319752
|
|
NM_001079866.2(BCS1L):c.712A>T (p.Ser238Cys)
|
rs1459378570
|
|
NM_001080508.3(TBX18):c.170GCG[3] (p.Gly60del)
|
rs1253648998
|
|
NM_001080508.3(TBX18):c.464T>C (p.Ile155Thr)
|
rs1562268262
|
|
NM_001081.4(CUBN):c.10192_10193del (p.Asp3398fs)
|
rs1564376600
|
|
NM_001081.4(CUBN):c.10431_10447del (p.Pro3477_Val3478insTer)
|
rs1564374451
|
|
NM_001081.4(CUBN):c.1097G>C (p.Cys366Ser)
|
rs1564518870
|
|
NM_001081.4(CUBN):c.5856_5858delinsGGC (p.Gly1953Ala)
|
rs1564434486
|
|
NM_001081.4(CUBN):c.8007dup (p.Val2670fs)
|
rs1564414648
|
|
NM_001081.4(CUBN):c.8104del (p.Ser2702fs)
|
rs1564412484
|
|
NM_001081.4(CUBN):c.9266CCT[3] (p.Ser3090dup)
|
rs1300066453
|
|
NM_001098484.3(SLC4A4):c.2249C>T (p.Thr750Ile)
|
rs1560593238
|
|
NM_001098484.3(SLC4A4):c.2446G>A (p.Gly816Arg)
|
rs1259668764
|
|
NM_001098484.3(SLC4A4):c.2657T>C (p.Leu886Pro)
|
rs1560609764
|
|
NM_001101.5(ACTB):c.1081G>A (p.Glu361Lys)
|
rs1562718646
|
|
NM_001105247.2(ARMC5):c.1597del (p.Ser533fs)
|
rs1567377180
|
|
NM_001105247.2(ARMC5):c.1864+56del
|
rs1567377765
|
|
NM_001105247.2(ARMC5):c.928_929delinsAA (p.Ala310Asn)
|
rs1567375574
|
|
NM_001110556.2(FLNA):c.1527_1538del (p.Ala510_Gly513del)
|
rs1569551810
|
|
NM_001113378.2(FANCI):c.1950T>A (p.Cys650Ter)
|
rs1567163989
|
|
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs)
|
rs1567165630
|
|
NM_001113378.2(FANCI):c.3187-2A>T
|
rs1472123387
|
|
NM_001114753.3(ENG):c.742_743insT (p.Asp248fs)
|
rs1213847963
|
|
NM_001122630.2(CDKN1C):c.573_574del (p.Ala192fs)
|
rs1564929735
|
|
NM_001122630.2(CDKN1C):c.74C>G (p.Pro25Arg)
|
rs1564930749
|
|
NM_001122630.2(CDKN1C):c.7_8insAAGA (p.Arg3fs)
|
rs1564930866
|
|
NM_001122955.4(BSCL2):c.884C>T (p.Pro295Leu)
|
rs1390537161
|
|
NM_001123385.2(BCOR):c.2305del (p.Glu769fs)
|
rs1569155966
|
|
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His)
|
rs1569155643
|
|
NM_001123385.2(BCOR):c.3712_3729del (p.Thr1238_Pro1243del)
|
rs1569148032
|
|
NM_001123385.2(BCOR):c.432_433insGGTG (p.Phe145fs)
|
rs1569159884
|
|
NM_001127898.4(CLCN5):c.1382A>C (p.Asp461Ala)
|
rs1569540368
|
|
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter)
|
rs797044811
|
|
NM_001127898.4(CLCN5):c.2116C>T (p.Leu706Phe)
|
rs1569540502
|
|
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter)
|
rs797044813
|
|
NM_001127898.4(CLCN5):c.2261A>G (p.Asp754Gly)
|
rs782544077
|
|
NM_001127898.4(CLCN5):c.415+1G>A
|
rs1569540051
|
|
NM_001130145.3(YAP1):c.115_144dup (p.Ala39_Pro48dup)
|
rs1479331868
|
|
NM_001134831.2(AHI1):c.1915T>C (p.Tyr639His)
|
rs974371363
|
|
NM_001134831.2(AHI1):c.2369_2372del (p.Asn790fs)
|
rs1562753388
|
|
NM_001134831.2(AHI1):c.3435_3438del (p.Asn1146fs)
|
rs1562458813
|
|
NM_001142285.2(RPS24):c.508_516del (p.Val170_Gly172del)
|
rs1564633573
|
|
NM_001142285.2(RPS24):c.820G>T (p.Glu274Ter)
|
rs1564633698
|
|
NM_001165967.2(HES7):c.402_416del (p.Pro136_Pro140del)
|
rs1568014202
|
|
NM_001166114.2(PNPLA6):c.2324_2325del (p.Val775fs)
|
rs1568418734
|
|
NM_001166114.2(PNPLA6):c.2715del (p.Thr906fs)
|
rs1568419950
|
|
NM_001166114.2(PNPLA6):c.3035T>C (p.Leu1012Ser)
|
rs1568420862
|
|
NM_001166114.2(PNPLA6):c.422del (p.Arg141fs)
|
rs1568407023
|
|
NM_001166114.2(PNPLA6):c.925-1G>A
|
rs1428600937
|
|
NM_001171.6(ABCC6):c.1765_1766insCTGC (p.His589fs)
|
rs1567511016
|
|
NM_001171.6(ABCC6):c.4249C>G (p.Leu1417Val)
|
rs1567460585
|
|
NM_001173990.3(TMEM216):c.67del (p.Leu23fs)
|
rs1565088283
|
|
NM_001177316.2(SLC34A3):c.1601_1633dup (p.Leu534_Val544dup)
|
rs1564423219
|
|
NM_001177316.2(SLC34A3):c.944del (p.Gly315fs)
|
rs1473689787
|
|
NM_001177701.3(IFT27):c.121G>A (p.Gly41Arg)
|
rs1569077220
|
|
NM_001195305.3(BBIP1):c.134T>A (p.Ile45Lys)
|
rs1564689350
|
|
NM_001199107.2(TBC1D24):c.389_391del (p.Phe130del)
|
rs1418389627
|
|
NM_001199397.3(NEK1):c.1293_1296dup (p.Ala433fs)
|
rs1355331355
|
|
NM_001199397.3(NEK1):c.1513_1517del (p.Lys505fs)
|
rs1256306738
|
|
NM_001202.6(BMP4):c.197G>A (p.Gly66Glu)
|
rs1566581362
|
|
NM_001202.6(BMP4):c.450C>G (p.Asn150Lys)
|
rs767216159
|
|
NM_001202.6(BMP4):c.512G>A (p.Trp171Ter)
|
rs1064796998
|
|
NM_001204285.2(MUC1):c.302_361del (p.Val101_Ser120del)
|
rs1557837342
|
|
NM_001205254.2(OCLN):c.-68-2A>G
|
rs1561331778
|
|
NM_001205254.2(OCLN):c.1014_1023del (p.Glu339fs)
|
rs758540698
|
|
NM_001205254.2(OCLN):c.1276_1283del (p.Asp426fs)
|
rs1561354402
|
|
NM_001211.6(BUB1B):c.1202AGA[1] (p.Lys402del)
|
rs1566823816
|
|
NM_001211.6(BUB1B):c.1567+2T>A
|
rs1566825026
|
|
NM_001211.6(BUB1B):c.2851-1G>C
|
rs1566830754
|
|
NM_001235.5(SERPINH1):c.547G>T (p.Gly183Cys)
|
rs758606932
|
|
NM_001235.5(SERPINH1):c.81_95dup (p.Ala29_Ala33dup)
|
rs1565241224
|
|
NM_001243133.2(NLRP3):c.127C>T (p.Gln43Ter)
|
rs1558185400
|
|
NM_001243133.2(NLRP3):c.517A>G (p.Lys173Glu)
|
rs1041570007
|
|
NM_001276345.2(TNNT2):c.719+2T>A
|
rs113984578
|
|
NM_001282225.2(ADA2):c.1003_1004inv (p.His335Cys)
|
|
|
NM_001282225.2(ADA2):c.388T>C (p.Tyr130His)
|
rs1568986988
|
|
NM_001282225.2(ADA2):c.393del (p.Arg131fs)
|
rs1568986974
|
|
NM_001291303.3(FAT4):c.13641GAA[2] (p.Lys4551del)
|
rs1560639673
|
|
NM_001291303.3(FAT4):c.3842A>G (p.Tyr1281Cys)
|
rs1317645126
|
|
NM_001291415.2(KDM6A):c.3488G>C (p.Arg1163Pro)
|
rs1457797612
|
|
NM_001349206.2(LPIN1):c.2237A>G (p.His746Arg)
|
rs1558275568
|
|
NM_001349206.2(LPIN1):c.669C>G (p.Tyr223Ter)
|
rs1558871594
|
|
NM_001351132.2(PEX5):c.126dup (p.Gly43fs)
|
rs777383921
|
|
NM_001358921.2(COQ2):c.225_226insAG (p.Arg76fs)
|
rs1309293625
|
|
NM_001360.3(DHCR7):c.895C>T (p.His299Tyr)
|
rs745498103
|
|
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys)
|
rs367585401
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001365276.2(TNXB):c.10909_10910del (p.Ser3637_Ala3638insTer)
|
rs1217590497
|
|
NM_001365276.2(TNXB):c.11547_11548delinsGA (p.Gln3850Lys)
|
rs1562773221
|
|
NM_001366722.1(GRIP1):c.1607C>T (p.Thr536Ile)
|
rs1565744088
|
|
NM_001366722.1(GRIP1):c.1760_1761delinsAA (p.Thr587Lys)
|
rs1565731879
|
|
NM_001366722.1(GRIP1):c.2669_2671del (p.Phe890del)
|
rs1238544106
|
|
NM_001370595.2(COA8):c.517_518insTTTT (p.Gly173fs)
|
rs1566988219
|
|
NM_001374828.1(ARID1B):c.1206_1223dup (p.Ser403_Gly408dup)
|
rs755976776
|
|
NM_001374828.1(ARID1B):c.1207_1230dup (p.Ser403_Gly410dup)
|
rs1215031054
|
|
NM_001374828.1(ARID1B):c.1211GAG[4] (p.Gly408_Gly411del)
|
rs747790383
|
|
NM_001374828.1(ARID1B):c.1235_1243del (p.Ala412_Ala414del)
|
rs1562377638
|
|
NM_001374828.1(ARID1B):c.1266GGC[1] (p.Ala431_Ala433del)
|
rs765410747
|
|
NM_001374828.1(ARID1B):c.1281GGC[5] (p.Ala433dup)
|
rs764418312
|
|
NM_001374828.1(ARID1B):c.1293_1311dup (p.Gly438fs)
|
rs943407609
|
|
NM_001374828.1(ARID1B):c.1619CGG[5] (p.Ala543dup)
|
rs757953295
|
|
NM_001374828.1(ARID1B):c.1720_1721delinsAA (p.Ala574Lys)
|
rs1562378975
|
|
NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[1] (p.Gln207_Gln214del)
|
rs770869529
|
|
NM_001374828.1(ARID1B):c.612_613insG (p.Gln205fs)
|
rs1554247377
|
|
NM_001374828.1(ARID1B):c.615GCA[4] (p.Gln212_Gln214del)
|
rs587779744
|
|
NM_001375405.1(CEP120):c.1052T>G (p.Leu351Ter)
|
rs1562053969
|
|
NM_001377.3(DYNC2H1):c.11851_11852delinsAA (p.Ser3951Lys)
|
rs1565493307
|
|
NM_001377.3(DYNC2H1):c.1377del (p.Phe459fs)
|
rs1565315923
|
|
NM_001377.3(DYNC2H1):c.367-2A>G
|
rs1291197898
|
|
NM_001377.3(DYNC2H1):c.4698del (p.Gln1566fs)
|
rs1565359085
|
|
NM_001377.3(DYNC2H1):c.8243_8244insCTAATTCTTA (p.Leu2748_Leu2749insTer)
|
rs1565393163
|
|
NM_001377.3(DYNC2H1):c.8410C>T (p.Gln2804Ter)
|
rs1565394197
|
|
NM_001377.3(DYNC2H1):c.8816T>G (p.Ile2939Ser)
|
rs1199516337
|
|
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs)
|
rs1412574975
|
|
NM_001378454.1(ALMS1):c.12316_12332del (p.Lys4106fs)
|
rs1558712932
|
|
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs)
|
rs1553404020
|
|
NM_001378454.1(ALMS1):c.69_70insAAG (p.Glu23_Glu24insLys)
|
rs1006328829
|
|
NM_001378454.1(ALMS1):c.8790dup (p.Glu2931Ter)
|
rs1553409778
|
|
NM_001378615.1(CC2D2A):c.3536A>T (p.Glu1179Val)
|
rs1560188280
|
|
NM_001378615.1(CC2D2A):c.3736C>T (p.Pro1246Ser)
|
rs1318619045
|
|
NM_001378615.1(CC2D2A):c.3771+1G>C
|
rs1560190091
|
|
NM_001378615.1(CC2D2A):c.3975+2dup
|
rs1560192764
|
|
NM_001379081.2(FREM1):c.4468_4469insG (p.Thr1490fs)
|
rs1563900085
|
|
NM_001379081.2(FREM1):c.4651del (p.Gln1551fs)
|
rs1563898470
|
|
NM_001379081.2(FREM1):c.939del (p.Ser314fs)
|
rs1564076333
|
|
NM_001379286.1(ZNF423):c.3733+1G>A
|
rs1567443640
|
|
NM_001379500.1(COL18A1):c.1739G>T (p.Gly580Val)
|
rs1568916889
|
|
NM_001379500.1(COL18A1):c.1894C>T (p.Gln632Ter)
|
rs1209249150
|
|
NM_001379500.1(COL18A1):c.1924-1G>C
|
rs1568919581
|
|
NM_001379500.1(COL18A1):c.2473del (p.Glu825fs)
|
rs1568927636
|
|
NM_001379500.1(COL18A1):c.3039_3047del (p.1011PPG[3])
|
rs1568942958
|
|
NM_001382391.1(CSPP1):c.291_293delinsCTT (p.Tyr98Phe)
|
rs1563515385
|
|
NM_001382391.1(CSPP1):c.3221-2A>G
|
rs1563798688
|
|
NM_001382391.1(CSPP1):c.3455_3460del (p.Lys1152_Pro1153del)
|
rs1563809417
|
|
NM_001382391.1(CSPP1):c.3570_3572dup (p.Ser1191dup)
|
rs1563816486
|
|
NM_001382391.1(CSPP1):c.953_977dup (p.Val326_Ile327insSerTyrGlyThrTer)
|
rs1563560026
|
|
NM_001384479.1(AGT):c.374T>C
|
rs1558288088
|
|
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs)
|
rs1561601398
|
|
NM_001384732.1(CPLANE1):c.5363_5365del (p.Leu1788del)
|
rs1561522930
|
|
NM_001384732.1(CPLANE1):c.6777_6794del (p.Glu2259_Ser2264del)
|
rs1561476971
|
|
NM_001384732.1(CPLANE1):c.8326_8328delinsTTT (p.Glu2776Phe)
|
rs1561422940
|
|
NM_001384732.1(CPLANE1):c.895G>T (p.Gly299Ter)
|
rs1561704278
|
|
NM_001384732.1(CPLANE1):c.9701TGG[1] (p.Val3235del)
|
rs1561271347
|
|
NM_001395413.1(POR):c.1027G>T (p.Asp343Tyr)
|
rs782200489
|
|
NM_001395413.1(POR):c.1761_1767dup (p.Gln590fs)
|
rs1563436030
|
|
NM_001395656.1(ROBO2):c.3828_3830del (p.Ser1277del)
|
rs1559773887
|
|
NM_001395656.1(ROBO2):c.95G>A (p.Arg32Gln)
|
rs754279676
|
|
NM_001424.6(EMP2):c.422A>G (p.Tyr141Cys)
|
rs1567199317
|
|
NM_001424.6(EMP2):c.78+1G>A
|
rs747072310
|
|
NM_001453.3(FOXC1):c.1111_1119del (p.Ala371_Ser373del)
|
rs1281315755
|
|
NM_001453.3(FOXC1):c.1124GCG[9] (p.Gly378_Gly380dup)
|
rs76840944
|
|
NM_001453.3(FOXC1):c.1338CGG[13] (p.Gly452_Gly456dup)
|
rs398123612
|
|
NM_001453.3(FOXC1):c.38T>G (p.Leu13Arg)
|
rs1177304155
|
|
NM_001457.4(FLNB):c.1321C>T (p.Pro441Ser)
|
rs745588918
|
|
NM_001457.4(FLNB):c.2474T>C (p.Phe825Ser)
|
rs1559700069
|
|
NM_001457.4(FLNB):c.4172_4173inv (p.Ala1391Val)
|
|
|
NM_001457.4(FLNB):c.4759C>T (p.Arg1587Cys)
|
rs1383300466
|
|
NM_001457.4(FLNB):c.576_577delinsAC (p.Lys193Gln)
|
rs1559677548
|
|
NM_001567.4(INPPL1):c.1006G>A (p.Val336Met)
|
rs1166410104
|
|
NM_001567.4(INPPL1):c.1893_1894delinsAA (p.Leu632Ile)
|
rs1565392009
|
|
NM_001567.4(INPPL1):c.242T>C (p.Val81Ala)
|
rs1565384350
|
|
NM_001613.4(ACTA2):c.139G>A (p.Val47Met)
|
rs1181233032
|
|
NM_001613.4(ACTA2):c.953A>G (p.Glu318Gly)
|
rs1564642642
|
|
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys)
|
rs587777387
|
|
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs)
|
rs781969081
|
|
NM_001692.4(ATP6V1B1):c.271C>T (p.Gln91Ter)
|
rs1558677397
|
|
NM_001692.4(ATP6V1B1):c.367+1G>A
|
rs1343871627
|
|
NM_001845.6(COL4A1):c.3031G>T (p.Gly1011Ter)
|
rs1566351231
|
|
NM_001845.6(COL4A1):c.388G>A (p.Gly130Arg)
|
rs766346293
|
|
NM_001845.6(COL4A1):c.4129C>T (p.Pro1377Ser)
|
rs1566342407
|
|
NM_001845.6(COL4A1):c.554G>C (p.Gly185Ala)
|
rs1566376798
|
|
NM_001845.6(COL4A1):c.626_627insT (p.Pro211fs)
|
rs1566376109
|
|
NM_001845.6(COL4A1):c.862_866del (p.Lys288fs)
|
rs1566373199
|
|
NM_001854.4(COL11A1):c.2792G>A (p.Gly931Glu)
|
rs1557891760
|
|
NM_001876.4(CPT1A):c.1002_1003insT (p.Val335fs)
|
rs1566357672
|
|
NM_001876.4(CPT1A):c.1664G>A (p.Gly555Asp)
|
rs1566348991
|
|
NM_001876.4(CPT1A):c.1993A>G (p.Lys665Glu)
|
rs1566339751
|
|
NM_001963.6(EGF):c.1336G>A (p.Gly446Arg)
|
rs1560698635
|
|
NM_001963.6(EGF):c.3454_3468del (p.Ser1152_Ser1156del)
|
rs754929911
|
|
NM_001966.4(EHHADH):c.2075T>A (p.Leu692Gln)
|
rs913067903
|
|
NM_001966.4(EHHADH):c.561_562del (p.Arg187fs)
|
rs1560013367
|
|
NM_001966.4(EHHADH):c.586del (p.Arg196fs)
|
rs1375541639
|
|
NM_001982.4(ERBB3):c.221T>G (p.Leu74Arg)
|
rs1565855722
|
|
NM_001985.3(ETFB):c.373C>G (p.Gln125Glu)
|
rs1568467526
|
|
NM_001985.3(ETFB):c.376-2A>G
|
rs1568466685
|
|
NM_002067.5(GNA11):c.605+1_605+2insATGGTGGATGTGGGGGGCCAGCGGTCGGAGCGGAGGAAGTGGATCCACTGCT
|
rs752056117
|
|
NM_002067.5(GNA11):c.735+1_735+2insGA
|
rs771890434
|
|
NM_002204.4(ITGA3):c.1876C>T (p.Gln626Ter)
|
rs758284330
|
|
NM_002292.4(LAMB2):c.4821_4822delinsGA (p.Gln1608Lys)
|
rs1560066776
|
|
NM_002334.4(LRP4):c.248G>T (p.Cys83Phe)
|
rs1565801283
|
|
NM_002334.4(LRP4):c.4511C>T (p.Ser1504Phe)
|
rs1565780905
|
|
NM_002334.4(LRP4):c.530C>A (p.Ser177Tyr)
|
rs1565800416
|
|
NM_002456.6(MUC1):c.159+236dup
|
rs1557836992
|
|
NM_002473.6(MYH9):c.1177C>T (p.Arg393Cys)
|
rs1156464508
|
|
NM_002473.6(MYH9):c.1492G>A (p.Glu498Lys)
|
rs1569535680
|
|
NM_002473.6(MYH9):c.2810AGA[3] (p.Lys940del)
|
rs1353636692
|
|
NM_002473.6(MYH9):c.3694G>A (p.Glu1232Lys)
|
rs1569534975
|
|
NM_002473.6(MYH9):c.5354G>T (p.Arg1785Leu)
|
rs774015925
|
|
NM_002618.4(PEX13):c.58_69dup (p.Ala20_Gly23dup)
|
rs1470266685
|
|
NM_002755.4(MAP2K1):c.45del (p.Asp16fs)
|
rs1566991692
|
|
NM_002834.5(PTPN11):c.1361C>T (p.Pro454Leu)
|
rs1566185599
|
|
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer)
|
rs113614842
|
|
NM_002968.3(SALL1):c.253_258del (p.Phe85_Ser86del)
|
rs1438564053
|
|
NM_002968.3(SALL1):c.712C>T (p.Gln238Ter)
|
rs1567316325
|
|
NM_003000.3(SDHB):c.135_136insACAAGTTGAAACT (p.Arg46delinsThrSerTer)
|
rs1557746639
|
|
NM_003002.4(SDHD):c.411del (p.Leu139fs)
|
rs1566702771
|
|
NM_003041.4(SLC5A2):c.1309T>C (p.Ser437Pro)
|
rs1567390826
|
|
NM_003041.4(SLC5A2):c.1346dup (p.Gly450fs)
|
rs765873464
|
|
NM_003041.4(SLC5A2):c.1552_1573dup (p.His525fs)
|
rs987447860
|
|
NM_003041.4(SLC5A2):c.175_184del (p.Gly59fs)
|
rs1567387443
|
|
NM_003041.4(SLC5A2):c.187del (p.Val63fs)
|
rs1567387460
|
|
NM_003052.5(SLC34A1):c.1325C>A (p.Pro442Gln)
|
rs760010857
|
|
NM_003052.5(SLC34A1):c.1363G>A (p.Ala455Thr)
|
rs1561635352
|
|
NM_003079.5(SMARCE1):c.-45-2A>T
|
rs1377199841
|
|
NM_003079.5(SMARCE1):c.156+1G>A
|
rs1567848929
|
|
NM_003108.4(SOX11):c.456_467dup (p.Gly153_Gly156dup)
|
rs774530705
|
|
NM_003193.5(TBCE):c.841C>T (p.Gln281Ter)
|
rs752790319
|
|
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro)
|
rs1567311288
|
|
NM_003361.4(UMOD):c.205T>A (p.Cys69Ser)
|
rs1567311279
|
|
NM_003361.4(UMOD):c.255C>A (p.Asn85Lys)
|
rs750535100
|
|
NM_003361.4(UMOD):c.286G>T (p.Glu96Ter)
|
rs1357689052
|
|
NM_003361.4(UMOD):c.628G>A (p.Gly210Ser)
|
rs1567309965
|
|
NM_003361.4(UMOD):c.774G>C (p.Trp258Cys)
|
rs1567309582
|
|
NM_003401.5(XRCC4):c.889dup (p.Glu297fs)
|
rs1561437752
|
|
NM_003482.4(KMT2D):c.11223_11234del (p.Gln3742_Gln3745del)
|
rs1565778883
|
|
NM_003482.4(KMT2D):c.11718_11759dup (p.3903QQQLQQQQQLQQQQ[3])
|
rs754086811
|
|
NM_003482.4(KMT2D):c.1868_1948del (p.Ala623_Glu649del)
|
rs1565818774
|
|
NM_003482.4(KMT2D):c.2091_2094delinsTATG (p.Thr698Met)
|
rs1565818194
|
|
NM_003482.4(KMT2D):c.2404_2405delinsCG (p.Glu802Arg)
|
rs1565816786
|
|
NM_003482.4(KMT2D):c.9843_9844delinsCT (p.Gln3281_Gln3282delinsHisTer)
|
rs1565785981
|
|
NM_003590.5(CUL3):c.2246T>C (p.Ile749Thr)
|
rs1559332999
|
|
NM_003611.3(OFD1):c.227C>T (p.Ser76Phe)
|
rs1569102409
|
|
NM_003630.3(PEX3):c.544_545del (p.Val182fs)
|
rs1562654726
|
|
NM_003638.3(ITGA8):c.404G>A (p.Trp135Ter)
|
rs751824845
|
|
NM_003722.5(TP63):c.797G>A (p.Arg266Gln)
|
rs121908849
|
|
NM_003737.4(DCHS1):c.2995C>T (p.Arg999Ter)
|
rs1564865337
|
|
NM_003737.4(DCHS1):c.6089_6090delinsTT (p.Gly2030Val)
|
rs1564861592
|
|
NM_003737.4(DCHS1):c.6208del (p.Arg2070fs)
|
rs1564861489
|
|
NM_003850.3(SUCLA2):c.409G>A (p.Gly137Arg)
|
rs1566091565
|
|
NM_003982.4(SLC7A7):c.434A>G (p.Gln145Arg)
|
rs1566464038
|
|
NM_004070.4(CLCNKA):c.1333_1334delinsTT (p.Ala445Phe)
|
rs1557454514
|
|
NM_004070.4(CLCNKA):c.1750_1751del (p.Ser584fs)
|
rs1557456764
|
|
NM_004070.4(CLCNKA):c.1957del (p.Leu653fs)
|
rs1557458342
|
|
NM_004170.6(SLC1A1):c.1066C>T (p.Arg356Ter)
|
rs773968205
|
|
NM_004170.6(SLC1A1):c.115C>T (p.Arg39Ter)
|
rs1182048335
|
|
NM_004170.6(SLC1A1):c.1399AAG[1] (p.Lys468del)
|
rs1564072282
|
|
NM_004170.6(SLC1A1):c.91G>C (p.Gly31Arg)
|
rs1189243934
|
|
NM_004252.5(NHERF1):c.202_204del (p.Glu68del)
|
rs1567820191
|
|
NM_004333.6(BRAF):c.2128-2_2128del
|
rs1176881402
|
|
NM_004341.5(CAD):c.1830del (p.Asn611fs)
|
rs1558531590
|
|
NM_004341.5(CAD):c.2748C>G (p.Tyr916Ter)
|
rs140011289
|
|
NM_004341.5(CAD):c.3359A>T (p.Glu1120Val)
|
rs1558538125
|
|
NM_004341.5(CAD):c.367_368delinsTT (p.Glu123Leu)
|
rs1558527573
|
|
NM_004341.5(CAD):c.43C>T (p.Gln15Ter)
|
rs1558524067
|
|
NM_004341.5(CAD):c.5394+2T>C
|
rs1558543576
|
|
NM_004341.5(CAD):c.6149G>A (p.Gly2050Glu)
|
rs1232626604
|
|
NM_004341.5(CAD):c.739C>A (p.Pro247Thr)
|
rs1558528340
|
|
NM_004341.5(CAD):c.812A>G (p.Tyr271Cys)
|
rs1558528838
|
|
NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr)
|
rs1567263529
|
|
NM_004380.3(CREBBP):c.5830dup (p.Ala1944fs)
|
rs1567262786
|
|
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.6329C>A (p.Ala2110Asp)
|
rs1407363475
|
|
NM_004380.3(CREBBP):c.6594GCA[4] (p.Gln2216del)
|
rs746121736
|
|
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
|
rs770873593
|
|
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)
|
rs1561251388
|
|
NM_004453.4(ETFDH):c.1469-1G>T
|
rs1561251640
|
|
NM_004453.4(ETFDH):c.1658A>G (p.Tyr553Cys)
|
rs1561251884
|
|
NM_004453.4(ETFDH):c.841A>T (p.Ile281Phe)
|
rs761854400
|
|
NM_004453.4(ETFDH):c.986A>G (p.Tyr329Cys)
|
rs1561247687
|
|
NM_004482.4(GALNT3):c.681T>G (p.Ser227Arg)
|
rs1558999126
|
|
NM_004484.4(GPC3):c.338-1G>T
|
rs1569426445
|
|
NM_004525.3(LRP2):c.10472G>A (p.Cys3491Tyr)
|
rs1558997025
|
|
NM_004525.3(LRP2):c.13800+2T>C
|
rs1558966554
|
|
NM_004525.3(LRP2):c.1627A>T (p.Met543Leu)
|
rs1175222629
|
|
NM_004525.3(LRP2):c.2146C>T (p.Gln716Ter)
|
rs1199071599
|
|
NM_004525.3(LRP2):c.4554G>T (p.Trp1518Cys)
|
rs1559033472
|
|
NM_004525.3(LRP2):c.6104C>T (p.Pro2035Leu)
|
rs761330913
|
|
NM_004560.4(ROR2):c.1400A>G (p.Glu467Gly)
|
rs1564230248
|
|
NM_004560.4(ROR2):c.1412C>T (p.Ser471Phe)
|
rs1564230209
|
|
NM_004565.2(PEX14):c.987_995dup (p.Asp331_Asp332insGluGluAsp)
|
rs1318692969
|
|
NM_004589.4(SCO1):c.284G>A (p.Trp95Ter)
|
rs1215263055
|
|
NM_004589.4(SCO1):c.442G>T (p.Glu148Ter)
|
rs533385775
|
|
NM_004621.6(TRPC6):c.1478G>C (p.Trp493Ser)
|
rs1565211445
|
|
NM_004621.6(TRPC6):c.1549G>A (p.Gly517Ser)
|
rs1565209021
|
|
NM_004621.6(TRPC6):c.2284G>A (p.Val762Ile)
|
rs1565206758
|
|
NM_004621.6(TRPC6):c.266G>T (p.Ser89Ile)
|
rs1565221699
|
|
NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys)
|
rs121434394
|
|
NM_004621.6(TRPC6):c.2689G>A (p.Glu897Lys)
|
rs121434395
|
|
NM_004621.6(TRPC6):c.434A>G (p.His145Arg)
|
rs1565221486
|
|
NM_004625.4(WNT7A):c.665G>A (p.Arg222Gln)
|
rs1559293147
|
|
NM_004625.4(WNT7A):c.733C>T (p.Arg245Cys)
|
rs1559293096
|
|
NM_004646.4(NPHS1):c.1592G>T (p.Gly531Val)
|
rs1281962144
|
|
NM_004646.4(NPHS1):c.2346GGA[1] (p.Glu783del)
|
rs1568453391
|
|
NM_004646.4(NPHS1):c.2588G>T (p.Cys863Phe)
|
rs1568453194
|
|
NM_004646.4(NPHS1):c.2758T>A (p.Cys920Ser)
|
rs1568453007
|
|
NM_004646.4(NPHS1):c.444_452del (p.Thr149_Val151del)
|
rs1568457279
|
|
NM_004646.4(NPHS1):c.460del (p.Gln154fs)
|
rs1568457270
|
|
NM_004752.4(GCM2):c.307C>T (p.Pro103Ser)
|
rs1561672362
|
|
NM_004787.4(SLIT2):c.151A>G (p.Arg51Gly)
|
rs1560255958
|
|
NM_004787.4(SLIT2):c.3610G>T (p.Asp1204Tyr)
|
rs1313077695
|
|
NM_004787.4(SLIT2):c.4334dup (p.Asp1445fs)
|
rs1560245735
|
|
NM_004793.4(LONP1):c.1847A>C (p.Asn616Thr)
|
rs200839886
|
|
NM_004793.4(LONP1):c.2422G>T (p.Glu808Ter)
|
rs1568310102
|
|
NM_004793.4(LONP1):c.69_70delinsAG (p.Met23_Leu24delinsIleVal)
|
rs1568332645
|
|
NM_004795.4(KL):c.2245_2247delinsTCC (p.Ala749Ser)
|
rs1566509972
|
|
NM_004836.7(EIF2AK3):c.1549CTT[1] (p.Leu519del)
|
rs1558652960
|
|
NM_004924.6(ACTN4):c.2400_2401delinsTA (p.Val801Met)
|
rs1568751181
|
|
NM_004937.3(CTNS):c.1046T>G (p.Phe349Cys)
|
rs1567716891
|
|
NM_004937.3(CTNS):c.766_767delinsTT (p.Ala256Leu)
|
rs1567713916
|
|
NM_004944.4(DNASE1L3):c.146T>G (p.Ile49Ser)
|
rs1421746152
|
|
NM_004985.5(KRAS):c.108A>G (p.Ile36Met)
|
rs727503109
|
|
NM_004998.4(MYO1E):c.1669C>T (p.Arg557Cys)
|
rs1178412708
|
|
NM_004998.4(MYO1E):c.3141_3152del (p.Lys1048_Pro1051del)
|
rs1296996682
|
|
NM_004998.4(MYO1E):c.386T>C (p.Ile129Thr)
|
rs1566988453
|
|
NM_005027.4(PIK3R2):c.772CCG[3] (p.Pro261del)
|
rs1173823214
|
|
NM_005027.4(PIK3R2):c.784_795dup (p.Ser262_Pro265dup)
|
rs1568635981
|
|
NM_005050.4(ABCD4):c.1276G>T (p.Gly426Cys)
|
rs1566938680
|
|
NM_005050.4(ABCD4):c.1713_1714del (p.Met571fs)
|
rs1566909565
|
|
NM_005050.4(ABCD4):c.1779_1780del (p.Cys593fs)
|
rs1566906720
|
|
NM_005236.3(ERCC4):c.1523_1525del (p.Gly508del)
|
rs1567247992
|
|
NM_005236.3(ERCC4):c.1553_1554del (p.Ile518fs)
|
rs1567248043
|
|
NM_005236.3(ERCC4):c.2550CTT[1] (p.Phe851del)
|
rs1567254204
|
|
NM_005251.3(FOXC2):c.1218CCAGCC[3] (p.407QP[3])
|
rs780683912
|
|
NM_005257.6(GATA6):c.1054G>C (p.Gly352Arg)
|
rs1369316608
|
|
NM_005257.6(GATA6):c.1208G>T (p.Arg403Leu)
|
rs1567995625
|
|
NM_005257.6(GATA6):c.128CCT[2] (p.Ser45del)
|
rs1201519482
|
|
NM_005257.6(GATA6):c.1729_1743dup (p.Pro577_Thr581dup)
|
rs1568011745
|
|
NM_005378.6(MYCN):c.228dup (p.Trp77fs)
|
rs1558533831
|
|
NM_005461.5(MAFB):c.629G>T (p.Arg210Leu)
|
rs1568743476
|
|
NM_005506.4(SCARB2):c.265T>C (p.Tyr89His)
|
rs1560716036
|
|
NM_005506.4(SCARB2):c.757G>A (p.Gly253Arg)
|
rs1560708611
|
|
NM_005506.4(SCARB2):c.950del (p.Asn317fs)
|
rs1560707800
|
|
NM_005515.4(MNX1):c.375CGC[7] (p.Ala133_Ala134del)
|
rs548755417
|
|
NM_005515.4(MNX1):c.375CGC[8] (p.Ala134del)
|
rs548755417
|
|
NM_005529.7(HSPG2):c.3072_3073del (p.His1025fs)
|
rs1557764902
|
|
NM_005529.7(HSPG2):c.428G>A (p.Trp143Ter)
|
rs1557793652
|
|
NM_005529.7(HSPG2):c.4377C>A (p.Tyr1459Ter)
|
rs779605727
|
|
NM_005529.7(HSPG2):c.5281CTG[1] (p.Leu1762del)
|
rs1557734064
|
|
NM_005529.7(HSPG2):c.7916_7938del (p.Pro2639fs)
|
rs1557707870
|
|
NM_005562.3(LAMC2):c.2420_2421delinsAT (p.Ser807Asn)
|
rs1558097292
|
|
NM_005562.3(LAMC2):c.3328+1G>A
|
rs1475860578
|
|
NM_005566.4(LDHA):c.-24-260dup
|
rs1565033896
|
|
NM_005566.4(LDHA):c.681del (p.Gln226_Trp227insTer)
|
rs1295332354
|
|
NM_005609.4(PYGM):c.1429C>A (p.Pro477Thr)
|
rs1565534916
|
|
NM_005609.4(PYGM):c.1697T>G (p.Ile566Ser)
|
rs1565534289
|
|
NM_005609.4(PYGM):c.1886A>G (p.Asp629Gly)
|
rs1451559399
|
|
NM_005609.4(PYGM):c.2309A>C (p.Asp770Ala)
|
rs1565531372
|
|
NM_005609.4(PYGM):c.395_408del (p.Leu132fs)
|
rs1565538121
|
|
NM_005609.4(PYGM):c.856-2A>C
|
rs1565536363
|
|
NM_005816.5(CD96):c.411_413delinsAAT (p.Thr138Ile)
|
rs1559707949
|
|
NM_005857.5(ZMPSTE24):c.574G>A (p.Gly192Arg)
|
rs1557775572
|
|
NM_005879.3(TRAIP):c.1135G>T (p.Glu379Ter)
|
rs1559444250
|
|
NM_005879.3(TRAIP):c.229G>T (p.Glu77Ter)
|
rs1559450889
|
|
NM_005883.3(APC2):c.267_268delinsAG (p.Lys90Glu)
|
rs1569138908
|
|
NM_005883.3(APC2):c.2695G>T (p.Glu899Ter)
|
rs1236960819
|
|
NM_005883.3(APC2):c.322_323inv (p.Ser108Leu)
|
|
|
NM_005883.3(APC2):c.3746G>A (p.Arg1249His)
|
rs894952910
|
|
NM_005883.3(APC2):c.4225_4226delinsAC (p.Glu1409Thr)
|
rs1568181486
|
|
NM_005883.3(APC2):c.882_883delinsAG (p.Leu295Val)
|
rs1568169115
|
|
NM_005883.3(APC2):c.989_1000del (p.Gly330_Gly333del)
|
rs776996014
|
|
NM_005902.4(SMAD3):c.1035C>G (p.Asn345Lys)
|
rs1304126587
|
|
NM_005902.4(SMAD3):c.244G>A (p.Gly82Arg)
|
rs1566991421
|
|
NM_005984.5(SLC25A1):c.906GCT[3] (p.Leu304dup)
|
rs1364606581
|
|
NM_006005.3(WFS1):c.1046TCT[1] (p.Phe350del)
|
rs1560418164
|
|
NM_006005.3(WFS1):c.1613T>C (p.Phe538Ser)
|
rs1560419651
|
|
NM_006005.3(WFS1):c.2183G>A (p.Gly728Asp)
|
rs1560421124
|
|
NM_006005.3(WFS1):c.2563_2565delinsCCG (p.Ser855Pro)
|
rs1560422132
|
|
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs)
|
rs1560422383
|
|
NM_006005.3(WFS1):c.901G>A (p.Glu301Lys)
|
rs1560417758
|
|
NM_006015.6(ARID1A):c.114GGC[4] (p.Ala45del)
|
rs587779737
|
|
NM_006015.6(ARID1A):c.261_278dup (p.Ala88_Gly93dup)
|
rs749452696
|
|
NM_006015.6(ARID1A):c.48GCC[7] (p.Pro20_Pro21dup)
|
rs748085214
|
|
NM_006015.6(ARID1A):c.67G>T (p.Glu23Ter)
|
rs1557569082
|
|
NM_006208.3(ENPP1):c.1136G>T (p.Gly379Val)
|
rs750866854
|
|
NM_006254.4(PRKCD):c.1525T>C (p.Cys509Arg)
|
rs1559631701
|
|
NM_006306.4(SMC1A):c.855-2A>G
|
rs1569358774
|
|
NM_006329.4(FBLN5):c.1del (p.Met1fs)
|
rs1566833780
|
|
NM_006332.5(IFI30):c.391-1G>A
|
rs1568643863
|
|
NM_006412.4(AGPAT2):c.40CTG[6] (p.Leu16_Leu17dup)
|
rs745429291
|
|
NM_006412.4(AGPAT2):c.557A>C (p.Lys186Thr)
|
rs1564290861
|
|
NM_006412.4(AGPAT2):c.755T>C (p.Met252Thr)
|
rs1247427045
|
|
NM_006579.3(EBP):c.419T>G (p.Phe140Cys)
|
rs1569479908
|
|
NM_006580.4(CLDN16):c.-143_-141del
|
rs1560093684
|
|
NM_006623.4(PHGDH):c.245A>G (p.Asn82Ser)
|
rs587625944
|
|
NM_006623.4(PHGDH):c.439A>C (p.Thr147Pro)
|
rs1361480087
|
|
NM_006623.4(PHGDH):c.505A>G (p.Met169Val)
|
rs776977023
|
|
NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter)
|
rs756518004
|
|
NM_006662.3(SRCAP):c.1722_1736del (p.Thr576_Pro580del)
|
rs1567242751
|
|
NM_006662.3(SRCAP):c.2126G>A (p.Arg709Gln)
|
rs1248690680
|
|
NM_006701.5(TXNL4A):c.23T>G (p.Leu8Arg)
|
rs1257114490
|
|
NM_006892.4(DNMT3B):c.677G>A (p.Gly226Glu)
|
rs1568842156
|
|
NM_006953.4(UPK3A):c.115A>G (p.Thr39Ala)
|
rs1569103127
|
|
NM_006953.4(UPK3A):c.546G>A (p.Trp182Ter)
|
rs1569104902
|
|
NM_006953.4(UPK3A):c.548_549inv (p.Ser183Leu)
|
|
|
NM_007293.3(C4A):c.2539G>T (p.Glu847Ter)
|
rs1562707779
|
|
NM_012203.2(GRHPR):c.287+2T>C
|
rs1564297234
|
|
NM_012203.2(GRHPR):c.598+1G>T
|
rs111256477
|
|
NM_012210.4(TRIM32):c.1747G>A (p.Val583Met)
|
rs549155360
|
|
NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter)
|
rs1558805781
|
|
NM_012233.3(RAB3GAP1):c.831-1G>A
|
rs1157795774
|
|
NM_012330.4(KAT6B):c.1800CTC[3] (p.Ser605del)
|
rs1564600378
|
|
NM_012330.4(KAT6B):c.3273_3275del (p.Glu1104del)
|
rs1564626392
|
|
NM_012414.4(RAB3GAP2):c.1949_1952del (p.Ser650fs)
|
rs1558147821
|
|
NM_012414.4(RAB3GAP2):c.304+1G>C
|
rs769690915
|
|
NM_013336.4(SEC61A1):c.1284C>G (p.Ile428Met)
|
rs147461692
|
|
NM_014140.4(SMARCAL1):c.2428-1G>C
|
rs1559138908
|
|
NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter)
|
rs1007096305
|
|
NM_014270.5(SLC7A9):c.141del (p.Ile48fs)
|
rs1568532461
|
|
NM_014270.5(SLC7A9):c.332T>C (p.Leu111Pro)
|
rs1568531811
|
|
NM_014270.5(SLC7A9):c.496_510del (p.Asn166_Val170del)
|
rs924060598
|
|
NM_014270.5(SLC7A9):c.692C>T (p.Ala231Val)
|
rs1568529881
|
|
NM_014317.5(PDSS1):c.413C>T (p.Pro138Leu)
|
rs1564419795
|
|
NM_014423.4(AFF4):c.1762del (p.Thr588fs)
|
rs1561484789
|
|
NM_014423.4(AFF4):c.516_518dup (p.Glu172_His173insGln)
|
rs755428630
|
|
NM_014425.5(INVS):c.2786+2T>C
|
rs1322951938
|
|
NM_014425.5(INVS):c.2858G>A (p.Trp953Ter)
|
rs1564195414
|
|
NM_014425.5(INVS):c.786dup (p.Ala263fs)
|
rs1564172023
|
|
NM_014625.4(NPHS2):c.1022del (p.Pro341fs)
|
rs1558336507
|
|
NM_014625.4(NPHS2):c.451+2T>A
|
rs786204708
|
|
NM_014639.4(SKIC3):c.1309_1311delinsGTG (p.Leu437Val)
|
rs1561345904
|
|
NM_014639.4(SKIC3):c.701C>G (p.Pro234Arg)
|
rs767456366
|
|
NM_014704.4(CEP104):c.852C>A (p.Tyr284Ter)
|
rs774609492
|
|
NM_014714.4(IFT140):c.3413_3414delinsTA (p.Gln1138Leu)
|
rs1567326635
|
|
NM_014714.4(IFT140):c.3786del (p.Glu1262fs)
|
rs1567323053
|
|
NM_014714.4(IFT140):c.557G>A (p.Trp186Ter)
|
rs1567413573
|
|
NM_014714.4(IFT140):c.903-1G>A
|
rs1567407044
|
|
NM_014813.3(LRIG2):c.1569C>A (p.Ser523Arg)
|
rs1557914199
|
|
NM_014813.3(LRIG2):c.1657C>T (p.Gln553Ter)
|
rs1557914388
|
|
NM_014813.3(LRIG2):c.2087C>A (p.Pro696His)
|
rs1557917271
|
|
NM_014813.3(LRIG2):c.2476del (p.Ile826fs)
|
rs1557918089
|
|
NM_014813.3(LRIG2):c.3132del (p.Arg1044fs)
|
rs1557924687
|
|
NM_014813.3(LRIG2):c.3G>A (p.Met1Ile)
|
rs1557891106
|
|
NM_014813.3(LRIG2):c.993del (p.Phe331fs)
|
rs1326615116
|
|
NM_014875.3(KIF14):c.2653G>A (p.Gly885Ser)
|
rs1558073204
|
|
NM_014956.5(CEP164):c.1480_1482delinsACC (p.Pro494Thr)
|
rs1565542877
|
|
NM_014956.5(CEP164):c.266dup (p.Asp89fs)
|
rs1565454034
|
|
NM_014956.5(CEP164):c.347_348insT (p.Lys116fs)
|
rs1565455033
|
|
NM_014967.5(FAN1):c.2884G>A (p.Val962Met)
|
rs1566932396
|
|
NM_014967.5(FAN1):c.671_677dup (p.Pro227fs)
|
rs1566906885
|
|
NM_015102.5(NPHP4):c.1046T>G (p.Val349Gly)
|
rs1557804355
|
|
NM_015102.5(NPHP4):c.1149_1150insCC (p.Ala384fs)
|
rs1557768696
|
|
NM_015102.5(NPHP4):c.1985G>A (p.Trp662Ter)
|
rs1557697311
|
|
NM_015102.5(NPHP4):c.2858_2859del (p.Gln953fs)
|
rs1557619525
|
|
NM_015102.5(NPHP4):c.287A>G (p.Tyr96Cys)
|
rs1557860994
|
|
NM_015102.5(NPHP4):c.3082_3083delinsCT (p.Gly1028Leu)
|
rs1557616029
|
|
NM_015102.5(NPHP4):c.3930_3939del (p.Asp1311fs)
|
rs1557580413
|
|
NM_015135.3(NUP205):c.1281_1282delinsAT (p.Met427_Gly428delinsIleCys)
|
rs1563117620
|
|
NM_015135.3(NUP205):c.788_789inv (p.Ser263Leu)
|
|
|
NM_015158.5(KANK1):c.1576dup (p.Met526fs)
|
rs1564048109
|
|
NM_015158.5(KANK1):c.1791del (p.Ser598fs)
|
rs1564050528
|
|
NM_015158.5(KANK1):c.3112G>T (p.Glu1038Ter)
|
rs995175818
|
|
NM_015158.5(KANK1):c.3117_3122dup (p.1039ED[3])
|
rs1564107276
|
|
NM_015158.5(KANK1):c.3361G>T (p.Glu1121Ter)
|
rs779136001
|
|
NM_015272.5(RPGRIP1L):c.1073dup (p.Leu358fs)
|
rs1060501006
|
|
NM_015272.5(RPGRIP1L):c.1729A>T (p.Lys577Ter)
|
rs1567841755
|
|
NM_015272.5(RPGRIP1L):c.1892C>T (p.Thr631Ile)
|
rs1567841081
|
|
NM_015272.5(RPGRIP1L):c.3285dup (p.Ile1096fs)
|
rs1567818463
|
|
NM_015272.5(RPGRIP1L):c.65_66dup (p.Gly23fs)
|
rs1567902051
|
|
NM_015330.6(SPECC1L):c.2744-1_2760del
|
rs1258243444
|
|
NM_015330.6(SPECC1L):c.3326C>T (p.Thr1109Met)
|
rs1247798129
|
|
NM_015338.6(ASXL1):c.1492dup (p.Ala498fs)
|
rs1569325449
|
|
NM_015338.6(ASXL1):c.2367dup (p.Glu790Ter)
|
rs1569331249
|
|
NM_015338.6(ASXL1):c.2495_2498del (p.Asp832fs)
|
rs1569331922
|
|
NM_015375.3(DSTYK):c.136_148del (p.Arg46fs)
|
rs1558632637
|
|
NM_015443.4(KANSL1):c.2902del (p.Gln968fs)
|
rs1374665357
|
|
NM_015506.3(MMACHC):c.689G>C (p.Arg230Pro)
|
rs771074986
|
|
NM_015559.3(SETBP1):c.4564dup (p.Leu1522fs)
|
rs1568058926
|
|
NM_015559.3(SETBP1):c.4566_4567insGCCCCC (p.Leu1522_Pro1523insAlaPro)
|
rs1568058955
|
|
NM_015559.3(SETBP1):c.4572_4578del (p.Pro1525fs)
|
rs1568058985
|
|
NM_015559.3(SETBP1):c.4572_4581del (p.Pro1525fs)
|
rs1568058991
|
|
NM_015559.3(SETBP1):c.4572_4584del (p.Pro1526fs)
|
rs1568058996
|
|
NM_015559.3(SETBP1):c.4589_4593del (p.Leu1530fs)
|
rs1568059064
|
|
NM_015559.3(SETBP1):c.4589_4599del (p.Leu1530fs)
|
rs1568059066
|
|
NM_015559.3(SETBP1):c.4597_4598del (p.Pro1533fs)
|
rs1568059107
|
|
NM_015599.3(PGM3):c.505C>T (p.Arg169Ter)
|
rs142161221
|
|
NM_015631.6(TCTN3):c.1609_1610del (p.Glu537fs)
|
rs1566062743
|
|
NM_015631.6(TCTN3):c.1772del (p.Ile591fs)
|
rs1566062536
|
|
NM_015631.6(TCTN3):c.640A>T (p.Ile214Phe)
|
rs1566074734
|
|
NM_015650.4(TRAF3IP1):c.1085C>G (p.Ser362Ter)
|
rs776946849
|
|
NM_015650.4(TRAF3IP1):c.3G>T (p.Met1Ile)
|
rs1559349524
|
|
NM_015650.4(TRAF3IP1):c.885_887delinsTAC (p.Lys295_Asn296delinsAsnThr)
|
rs1559356336
|
|
NM_015662.3(IFT172):c.1993_1994delinsAT (p.Glu665Met)
|
rs1558384894
|
|
NM_015662.3(IFT172):c.2476C>T (p.Gln826Ter)
|
rs1558380331
|
|
NM_015884.4(MBTPS2):c.375CTCTTC[1] (p.Ser135_Ser136del)
|
rs1337491993
|
|
NM_015910.7(WDPCP):c.184TAT[1] (p.Tyr63del)
|
rs1558700304
|
|
NM_015910.7(WDPCP):c.1916-2A>G
|
rs763299856
|
|
NM_015937.6(PIGT):c.209C>T (p.Pro70Leu)
|
rs1568944487
|
|
NM_015991.4(C1QA):c.605C>T (p.Ser202Leu)
|
rs1557601149
|
|
NM_016204.4(GDF2):c.1022G>A (p.Trp341Ter)
|
rs1565755383
|
|
NM_016204.4(GDF2):c.443C>G (p.Ala148Gly)
|
rs1565754750
|
|
NM_016292.3(TRAP1):c.1728_1729del (p.Lys577fs)
|
rs1567221728
|
|
NM_016292.3(TRAP1):c.572dup (p.Ala191_Glu192insTer)
|
rs1567232146
|
|
NM_016327.3(UPB1):c.386C>G (p.Thr129Arg)
|
rs145368798
|
|
NM_016327.3(UPB1):c.671del (p.Gln224fs)
|
rs1568991185
|
|
NM_016335.6(PRODH):c.762G>A (p.Trp254Ter)
|
rs1568994007
|
|
NM_016335.6(PRODH):c.933_934inv (p.Met312Val)
|
|
|
NM_016341.4(PLCE1):c.5172del (p.Cys1725fs)
|
rs1564873908
|
|
NM_016341.4(PLCE1):c.5764del (p.Glu1922fs)
|
rs1564881408
|
|
NM_016341.4(PLCE1):c.6016GAA[1] (p.Glu2007del)
|
rs1564887427
|
|
NM_016341.4(PLCE1):c.6081_6082delinsCG (p.Thr2028Ala)
|
rs1564887576
|
|
NM_016343.4(CENPF):c.3262_3345del (p.Lys1088_Thr1115del)
|
rs1558183049
|
|
NM_016343.4(CENPF):c.343G>T (p.Glu115Ter)
|
rs1558170101
|
|
NM_016343.4(CENPF):c.3685AAGGAG[1] (p.1229KE[1])
|
rs1558183427
|
|
NM_016343.4(CENPF):c.4477_4478inv (p.Ser1493Asp)
|
|
|
NM_016343.4(CENPF):c.4986+1G>T
|
rs1558184644
|
|
NM_016343.4(CENPF):c.8131C>T (p.Gln2711Ter)
|
rs1311617572
|
|
NM_016356.5(DCDC2):c.1181dup (p.His394fs)
|
rs1561878742
|
|
NM_016592.5(GNAS):c.3G>A (p.Met1Ile)
|
rs1568906610
|
|
NM_016932.5(SIX2):c.337C>T (p.Arg113Cys)
|
rs1558440805
|
|
NM_016938.5(EFEMP2):c.242T>C (p.Leu81Pro)
|
rs1565274500
|
|
NM_017415.3(KLHL3):c.1079G>A (p.Arg360Gln)
|
rs1561586322
|
|
NM_017565.4(FAM20A):c.871_891del (p.Glu291_Lys297del)
|
rs1568724096
|
|
NM_017649.5(CNNM2):c.2171del (p.Pro724fs)
|
rs1564871031
|
|
NM_017662.5(TRPM6):c.2313_2314delinsAG (p.Pro772Ala)
|
rs1564018805
|
|
NM_017662.5(TRPM6):c.3204del (p.Phe1069fs)
|
rs1564011244
|
|
NM_017662.5(TRPM6):c.3435dup (p.Leu1146fs)
|
rs1564006687
|
|
NM_017780.4(CHD7):c.1925AGAAAA[3] (p.Lys644_Lys645dup)
|
rs1563595031
|
|
NM_017780.4(CHD7):c.3998A>G (p.Tyr1333Cys)
|
rs1563644012
|
|
NM_017780.4(CHD7):c.5399A>C (p.Lys1800Thr)
|
rs1481262806
|
|
NM_017827.4(SARS2):c.1396dup (p.Glu466fs)
|
rs1568422451
|
|
NM_017909.4(RMND1):c.711G>A (p.Trp237Ter)
|
rs1562793396
|
|
NM_017909.4(RMND1):c.926T>G (p.Leu309Arg)
|
rs777639435
|
|
NM_018051.5(DYNC2I1):c.2108G>T (p.Cys703Phe)
|
rs1563180732
|
|
NM_018051.5(DYNC2I1):c.935+2T>C
|
rs1563110445
|
|
NM_018062.4(FANCL):c.1076dup (p.Cys359fs)
|
rs1558727422
|
|
NM_018062.4(FANCL):c.622G>T (p.Asp208Tyr)
|
rs199564543
|
|
NM_018419.3(SOX18):c.130GCGCCCGCC[1] (p.44APA[1])
|
rs958071350
|
|
NM_018419.3(SOX18):c.765_766delinsTT (p.Arg256Trp)
|
rs1569234397
|
|
NM_018486.3(HDAC8):c.738-9981del
|
rs782467968
|
|
NM_018668.5(VPS33B):c.1030C>A (p.His344Asn)
|
rs368931670
|
|
NM_018668.5(VPS33B):c.1170+2T>C
|
rs753008447
|
|
NM_018685.5(ANLN):c.2454_2465del (p.Cys819_Val822del)
|
rs1562804930
|
|
NM_018685.5(ANLN):c.2476+2T>A
|
rs1562805029
|
|
NM_018718.3(CEP41):c.1075_1076insTACAGGTGCCACACCAGGCTAATTTTTTTGTATTTTAAGTAGAGACAGGGTTTCA (p.Pro359delinsLeuGlnValProHisGlnAlaAsnPhePheValPheTer)
|
rs1554416099
|
|
NM_018718.3(CEP41):c.148T>C (p.Tyr50His)
|
rs1562984818
|
|
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs)
|
rs782610112
|
|
NM_018979.4(WNK1):c.159_161delinsTTG (p.Glu53_Tyr54delinsAspCys)
|
rs1565375322
|
|
NM_018979.4(WNK1):c.4578_4582delinsGCGCA (p.His1527_Ser1528delinsArgThr)
|
rs1565583433
|
|
NM_018979.4(WNK1):c.571A>T (p.Lys191Ter)
|
rs1565377862
|
|
NM_018993.4(RIN2):c.-36-2791del
|
rs1568572045
|
|
NM_018993.4(RIN2):c.916_917insGC (p.Ser306fs)
|
rs1568686983
|
|
NM_018993.4(RIN2):c.923dup (p.Pro309fs)
|
rs1568687023
|
|
NM_018993.4(RIN2):c.928_929del (p.Arg310fs)
|
rs1568687231
|
|
NM_019026.6(TMCO1):c.26dup (p.Leu10fs)
|
rs35067337
|
|
NM_019074.4(DLL4):c.1109C>G (p.Pro370Arg)
|
rs777481123
|
|
NM_019074.4(DLL4):c.1508_1510del (p.Thr503_Phe504delinsIle)
|
rs1566879601
|
|
NM_019851.3(FGF20):c.100_102delinsACA (p.Pro34Thr)
|
rs1563235398
|
|
NM_019892.6(INPP5E):c.1196C>G (p.Ser399Cys)
|
rs1564433154
|
|
NM_019892.6(INPP5E):c.443_446del (p.Ser148fs)
|
rs1564437356
|
|
NM_020117.11(LARS1):c.2126A>C (p.His709Pro)
|
rs940095401
|
|
NM_020191.4(MRPS22):c.42_43delinsAG (p.Arg15Gly)
|
rs1560004052
|
|
NM_020208.4(SLC6A20):c.944del (p.Leu315fs)
|
rs1349508135
|
|
NM_020223.4(FAM20C):c.1415C>T (p.Thr472Met)
|
rs1562400300
|
|
NM_020223.4(FAM20C):c.344del (p.Glu115fs)
|
rs1562357102
|
|
NM_020223.4(FAM20C):c.346_347insT (p.Pro116fs)
|
rs1562357112
|
|
NM_020312.4(COQ9):c.5_7delinsTGA (p.Ala2_Ala3delinsValThr)
|
rs1567576392
|
|
NM_020381.4(PDSS2):c.494T>C (p.Ile165Thr)
|
rs1562426038
|
|
NM_020401.4(NUP107):c.1175-2A>G
|
rs1565697201
|
|
NM_020436.5(SALL4):c.2591_2592delinsTT (p.Arg864Leu)
|
rs1568862327
|
|
NM_020632.3(ATP6V0A4):c.1430T>G (p.Phe477Cys)
|
rs1562996966
|
|
NM_020632.3(ATP6V0A4):c.1675A>T (p.Ser559Cys)
|
rs369486474
|
|
NM_020632.3(ATP6V0A4):c.2173A>G (p.Ile725Val)
|
rs1562978360
|
|
NM_020639.3(RIPK4):c.1730C>G (p.Ala577Gly)
|
rs1569098803
|
|
NM_020779.4(WDR35):c.1408C>G (p.His470Asp)
|
rs1558340974
|
|
NM_020779.4(WDR35):c.2024C>T (p.Ala675Val)
|
rs1558332966
|
|
NM_020779.4(WDR35):c.2910C>A (p.Tyr970Ter)
|
rs1558328055
|
|
NM_020810.3(TRMT5):c.270del (p.Phe90fs)
|
rs1443616611
|
|
NM_020832.3(ZNF687):c.2635-1G>A
|
rs1557773195
|
|
NM_020937.4(FANCM):c.1335T>G (p.Tyr445Ter)
|
rs1270367757
|
|
NM_020937.4(FANCM):c.1645_1661del (p.Gly549fs)
|
rs1566748490
|
|
NM_020937.4(FANCM):c.1815AAG[1] (p.Arg606del)
|
rs1566751800
|
|
NM_020937.4(FANCM):c.6016C>T (p.Gln2006Ter)
|
rs1566794123
|
|
NM_020964.3(EPG5):c.4195G>T (p.Glu1399Ter)
|
rs1568145102
|
|
NM_020964.3(EPG5):c.7304dup (p.Asn2435fs)
|
rs1568094308
|
|
NM_021120.4(DLG3):c.265_266delinsAA (p.Pro89Lys)
|
rs1569266884
|
|
NM_021828.5(HPSE2):c.1370T>C (p.Leu457Ser)
|
rs1564914943
|
|
NM_021871.4(FGA):c.193C>A (p.Pro65Thr)
|
rs1560827531
|
|
NM_021922.3(FANCE):c.524del (p.Gly175fs)
|
rs773363446
|
|
NM_021922.3(FANCE):c.742del (p.Ala248fs)
|
rs1561790031
|
|
NM_022098.4(XPNPEP3):c.62C>A (p.Ser21Ter)
|
rs1569009249
|
|
NM_022167.4(XYLT2):c.1792GAC[1] (p.Asp599del)
|
rs1567807866
|
|
NM_022369.4(STRA6):c.1518C>A (p.Asn506Lys)
|
rs1567178204
|
|
NM_022369.4(STRA6):c.1594C>G (p.Arg532Gly)
|
rs570214336
|
|
NM_022369.4(STRA6):c.1917G>A (p.Trp639Ter)
|
rs1567175757
|
|
NM_022369.4(STRA6):c.386_387delinsCA (p.Leu129Pro)
|
rs1567193252
|
|
NM_022454.4(SOX17):c.1223dup (p.Tyr408Ter)
|
rs1563872772
|
|
NM_022454.4(SOX17):c.532G>T (p.Gly178Cys)
|
rs267607082
|
|
NM_022454.4(SOX17):c.807_808delinsAT (p.Met270Leu)
|
rs1563871910
|
|
NM_022455.5(NSD1):c.4607G>T (p.Gly1536Val)
|
rs1562255664
|
|
NM_022455.5(NSD1):c.7892C>G (p.Ser2631Ter)
|
rs758339424
|
|
NM_022489.4(INF2):c.1262CACCCC[5] (p.Pro427_Pro428dup)
|
rs573567814
|
|
NM_022489.4(INF2):c.1281_1283del (p.Pro428del)
|
rs1566781582
|
|
NM_022489.4(INF2):c.254C>T (p.Ser85Leu)
|
rs1317776692
|
|
NM_022489.4(INF2):c.3530_3531insCGAAGA (p.1171_1172DE[4])
|
rs1566786530
|
|
NM_022489.4(INF2):c.3745del (p.Gln1249fs)
|
rs1566787065
|
|
NM_022489.4(INF2):c.452G>A (p.Cys151Tyr)
|
rs1566778512
|
|
NM_022489.4(INF2):c.530G>A (p.Arg177His)
|
rs1566778651
|
|
NM_022489.4(INF2):c.530G>C (p.Arg177Pro)
|
rs1566778651
|
|
NM_022489.4(INF2):c.653G>A (p.Arg218Gln)
|
rs267607183
|
|
NM_022489.4(INF2):c.89T>G (p.Leu30Arg)
|
rs1566777417
|
|
NM_022725.4(FANCF):c.318_319delinsCC (p.Ala107Pro)
|
rs1565055434
|
|
NM_022725.4(FANCF):c.881G>A (p.Trp294Ter)
|
rs912132298
|
|
NM_023110.3(FGFR1):c.-88-3566dup
|
rs1424371425
|
|
NM_023110.3(FGFR1):c.1671G>T (p.Leu557Phe)
|
rs1280366603
|
|
NM_024079.5(ALG8):c.139_141dup (p.Thr47dup)
|
rs1565359969
|
|
NM_024079.5(ALG8):c.830_831delinsCA (p.Cys277Ser)
|
rs1565349263
|
|
NM_024079.5(ALG8):c.851A>G (p.Asn284Ser)
|
rs1565349211
|
|
NM_024408.4(NOTCH2):c.18del (p.Ala7fs)
|
rs372504208
|
|
NM_024408.4(NOTCH2):c.3934C>T (p.Pro1312Ser)
|
rs1557807220
|
|
NM_024408.4(NOTCH2):c.7391ACA[2] (p.Asn2466del)
|
rs1288820640
|
|
NM_024408.4(NOTCH2):c.782T>G (p.Ile261Ser)
|
rs1202374604
|
|
NM_024426.6(WT1):c.1448G>A (p.Ser483Asn)
|
rs1564967706
|
|
NM_024426.6(WT1):c.609_611delinsTGA (p.Ala204Glu)
|
rs1565001078
|
|
NM_024529.5(CDC73):c.430G>T (p.Glu144Ter)
|
rs1558283535
|
|
NM_024649.5(BBS1):c.1110+2T>G
|
rs1565286223
|
|
NM_024649.5(BBS1):c.796_800del (p.Ala266fs)
|
rs1565284534
|
|
NM_024675.4(PALB2):c.1042_1044del (p.Gln348del)
|
rs1567221745
|
|
NM_024675.4(PALB2):c.1263_1265dup (p.Lys422dup)
|
rs1567221237
|
|
NM_024675.4(PALB2):c.3329_3331del (p.Leu1110del)
|
rs1567206766
|
|
NM_024678.6(NARS2):c.390T>A (p.Tyr130Ter)
|
rs1418417084
|
|
NM_024685.4(BBS10):c.290T>G (p.Leu97Arg)
|
rs1565810252
|
|
NM_024753.5(TTC21B):c.1227_1230del (p.Lys410fs)
|
rs1559066279
|
|
NM_024753.5(TTC21B):c.1709C>T (p.Ala570Val)
|
rs1559058045
|
|
NM_024753.5(TTC21B):c.1999C>T (p.Gln667Ter)
|
rs1559056633
|
|
NM_024753.5(TTC21B):c.2078_2087del (p.Lys693fs)
|
rs1559056530
|
|
NM_024753.5(TTC21B):c.3397dup (p.Thr1133fs)
|
rs1559040678
|
|
NM_024753.5(TTC21B):c.489del (p.Ala164fs)
|
rs1559074956
|
|
NM_025074.7(FRAS1):c.11502del (p.Ile3835fs)
|
rs1560432740
|
|
NM_025074.7(FRAS1):c.1867T>C (p.Cys623Arg)
|
rs1560650709
|
|
NM_025074.7(FRAS1):c.2571del (p.Ala856_Cys857insTer)
|
rs1560681144
|
|
NM_025099.6(CTC1):c.1396del (p.Leu466fs)
|
rs1567608566
|
|
NM_025114.4(CEP290):c.1392_1393insCTACTTA (p.Ile465fs)
|
rs1565900023
|
|
NM_025114.4(CEP290):c.1858G>T (p.Glu620Ter)
|
rs1203763812
|
|
NM_025114.4(CEP290):c.2708T>G (p.Leu903Ter)
|
rs768822859
|
|
NM_025114.4(CEP290):c.2738_2742del (p.Glu913fs)
|
rs1565876618
|
|
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu)
|
rs1565845877
|
|
NM_025114.4(CEP290):c.4704+1G>T
|
rs1565835538
|
|
NM_025129.5(FUZ):c.1253_1255del (p.Leu418_Ter419delinsArg)
|
rs1568595114
|
|
NM_025129.5(FUZ):c.234-2A>G
|
rs1417603679
|
|
NM_025129.5(FUZ):c.387+2T>G
|
rs1568608172
|
|
NM_025129.5(FUZ):c.630dup (p.Ser211fs)
|
rs1568602961
|
|
NM_025129.5(FUZ):c.716_727del (p.Thr239_Pro242del)
|
rs1568602120
|
|
NM_025129.5(FUZ):c.850dup (p.Arg284fs)
|
rs1568600381
|
|
NM_025132.4(WDR19):c.1809del (p.Val604fs)
|
rs1560514557
|
|
NM_025132.4(WDR19):c.1883ACA[1] (p.Asn629del)
|
rs1560514751
|
|
NM_025132.4(WDR19):c.2252A>T (p.Glu751Val)
|
rs778651224
|
|
NM_025132.4(WDR19):c.991G>T (p.Gly331Cys)
|
rs1560501301
|
|
NM_030582.4(COL18A1):c.1278+5_1278+8del
|
rs1568898560
|
|
NM_030665.4(RAI1):c.834GCA[16] (p.Gln289_Gln291dup)
|
rs371983878
|
|
NM_030665.4(RAI1):c.834GCA[22] (p.Gln283_Gln291dup)
|
rs371983878
|
|
NM_030665.4(RAI1):c.834GCA[7] (p.Gln286_Gln291del)
|
rs371983878
|
|
NM_030667.3(PTPRO):c.948_951dup (p.Pro318fs)
|
rs1565668100
|
|
NM_030761.5(WNT4):c.346T>C (p.Ser116Pro)
|
rs1557923349
|
|
NM_030787.4(CFHR5):c.1195C>T (p.Gln399Ter)
|
rs772780646
|
|
NM_030787.4(CFHR5):c.1225del (p.Asp409fs)
|
rs771972507
|
|
NM_030787.4(CFHR5):c.896dup (p.Asn299fs)
|
rs1233073714
|
|
NM_030943.4(AMN):c.1079_1102del (p.Gly360_Ala367del)
|
rs1034496756
|
|
NM_030943.4(AMN):c.1347_1348insTCGGGCC (p.Glu450fs)
|
rs1566829819
|
|
NM_030943.4(AMN):c.1360T>A (p.Ter454Arg)
|
rs1566829872
|
|
NM_031885.5(BBS2):c.1123G>C (p.Gly375Arg)
|
rs1018314879
|
|
NM_032043.3(BRIP1):c.1323_1329del (p.Cys442fs)
|
rs1567828971
|
|
NM_032387.5(WNK4):c.1095_1096delinsTT (p.Met365Ile)
|
rs1568027491
|
|
NM_032387.5(WNK4):c.1742-1G>A
|
rs753483211
|
|
NM_032387.5(WNK4):c.3293del (p.Gly1098fs)
|
rs1315191413
|
|
NM_032444.4(SLX4):c.2977G>T (p.Glu993Ter)
|
rs1567170533
|
|
NM_032444.4(SLX4):c.3331_3332insTA (p.Asn1111fs)
|
rs1567170211
|
|
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter)
|
rs200628199
|
|
NM_032444.4(SLX4):c.5153+1G>A
|
rs1567166275
|
|
NM_032575.3(GLIS2):c.751A>T (p.Lys251Ter)
|
rs1567223895
|
|
NM_032833.5(PPP1R15B):c.1342_1362del (p.Trp448_Asp454del)
|
rs1558216603
|
|
NM_032833.5(PPP1R15B):c.391_392inv (p.Ser131Asp)
|
|
|
NM_032977.4(CASP10):c.176_177delinsGG (p.Ser59Trp)
|
rs1559292275
|
|
NM_032977.4(CASP10):c.604_605insGTGTCACG (p.Asp202fs)
|
rs1559299395
|
|
NM_032977.4(CASP10):c.927_928del (p.Leu310fs)
|
rs1559308812
|
|
NM_033028.5(BBS4):c.1236del (p.Glu412fs)
|
rs1226386838
|
|
NM_033380.3(COL4A5):c.146A>G (p.Glu49Gly)
|
rs1569486475
|
|
NM_033380.3(COL4A5):c.1508G>T (p.Gly503Val)
|
rs1569493679
|
|
NM_033380.3(COL4A5):c.1607G>A (p.Gly536Asp)
|
rs104886125
|
|
NM_033380.3(COL4A5):c.2332G>A (p.Gly778Ser)
|
rs104886174
|
|
NM_033380.3(COL4A5):c.2395+1G>C
|
rs869025331
|
|
NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp)
|
rs104886195
|
|
NM_033380.3(COL4A5):c.2821G>T (p.Gly941Cys)
|
rs104886196
|
|
NM_033380.3(COL4A5):c.2917+1G>C
|
rs104886371
|
|
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del)
|
rs104886374
|
|
NM_033380.3(COL4A5):c.3017G>A (p.Gly1006Asp)
|
rs104886202
|
|
NM_033380.3(COL4A5):c.3170G>T (p.Gly1057Val)
|
rs1569499010
|
|
NM_033380.3(COL4A5):c.3310G>T (p.Gly1104Cys)
|
rs1569504072
|
|
NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys)
|
rs1569505374
|
|
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)
|
rs104886228
|
|
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser)
|
rs1569505771
|
|
NM_033380.3(COL4A5):c.395G>A (p.Gly132Glu)
|
rs1569488841
|
|
NM_033380.3(COL4A5):c.4155_4157del (p.Ile1386del)
|
rs1569507545
|
|
NM_033380.3(COL4A5):c.4159_4170del (p.Pro1387_Pro1390del)
|
rs1569507550
|
|
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys)
|
rs144282156
|
|
NM_033380.3(COL4A5):c.4315+1G>C
|
rs587776403
|
|
NM_033380.3(COL4A5):c.4315G>C (p.Gly1439Arg)
|
rs1569508169
|
|
NM_033380.3(COL4A5):c.4528+1G>A
|
rs104886413
|
|
NM_033380.3(COL4A5):c.4960T>C (p.Trp1654Arg)
|
rs1569509354
|
|
NM_033380.3(COL4A5):c.49_50del (p.Leu17fs)
|
rs104886427
|
|
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter)
|
rs281874753
|
|
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp)
|
rs1569489328
|
|
NM_033380.3(COL4A5):c.546+2dup
|
rs1569489353
|
|
NM_033380.3(COL4A5):c.546+4_546+7del
|
rs1569489348
|
|
NM_033380.3(COL4A5):c.572_583del (p.Pro191_Gly195delinsArg)
|
rs1569489843
|
|
NM_033380.3(COL4A5):c.594dup (p.Pro199fs)
|
rs1569489863
|
|
NM_033380.3(COL4A5):c.635del (p.Pro212fs)
|
rs104886065
|
|
NM_033380.3(COL4A5):c.646G>A (p.Gly216Arg)
|
rs104886067
|
|
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu)
|
rs104886074
|
|
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala)
|
rs1569490592
|
|
NM_052844.4(DYNC2I2):c.1489_1490insCAGCA (p.Leu497fs)
|
rs1564336367
|
|
NM_052989.3(IFT122):c.1733dup (p.Lys579fs)
|
rs1559928481
|
|
NM_052989.3(IFT122):c.213del (p.Ser72fs)
|
rs1559861150
|
|
NM_057176.3(BSND):c.413_415del (p.Gln138del)
|
rs1557485317
|
|
NM_078480.3(PUF60):c.1264GAG[1] (p.Glu423del)
|
rs1489383612
|
|
NM_078480.3(PUF60):c.1328C>A (p.Ser443Ter)
|
rs867646760
|
|
NM_080425.4(GNAS):c.1150_1176dup (p.Ala392_Arg393insGlyAlaAlaSerAlaAspThrAlaAla)
|
rs1395514695
|
|
NM_133433.4(NIPBL):c.6498+4_6498+9del
|
rs1167724948
|
|
NM_133433.4(NIPBL):c.7379C>G (p.Ser2460Cys)
|
rs1561222713
|
|
NM_138281.3(DLX4):c.402_403delinsTA (p.Gln134_Arg135delinsHisSer)
|
rs1567907771
|
|
NM_138281.3(DLX4):c.611_613delinsACA (p.Leu204_Trp205delinsHisArg)
|
rs1567908151
|
|
NM_138413.4(HOGA1):c.122_123del (p.Pro41fs)
|
rs1564753668
|
|
NM_138413.4(HOGA1):c.520A>G (p.Thr174Ala)
|
rs1564759164
|
|
NM_138694.4(PKHD1):c.11603_11604del (p.Val3868fs)
|
rs1561991558
|
|
NM_138694.4(PKHD1):c.3334_3335insTTT (p.Thr1112delinsIleSer)
|
rs1562188854
|
|
NM_138694.4(PKHD1):c.7118T>C (p.Leu2373Pro)
|
rs1562532468
|
|
NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala)
|
rs1562410143
|
|
NM_138694.4(PKHD1):c.9560del (p.Ser3187fs)
|
rs1562222437
|
|
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs)
|
rs1562221540
|
|
NM_138959.3(VANGL1):c.1267A>T (p.Ile423Phe)
|
rs1557776126
|
|
NM_138959.3(VANGL1):c.1387T>G (p.Trp463Gly)
|
rs1557778504
|
|
NM_139027.6(ADAMTS13):c.1522T>C (p.Cys508Arg)
|
rs1564423616
|
|
NM_139027.6(ADAMTS13):c.1940del (p.Gly647fs)
|
rs1564426640
|
|
NM_139027.6(ADAMTS13):c.540G>T (p.Arg180Ser)
|
rs1564409613
|
|
NM_139058.3(ARX):c.1017G>C (p.Gln339His)
|
rs1569395265
|
|
NM_139058.3(ARX):c.306GGC[5] (p.Ala111_Ala115del)
|
rs387906492
|
|
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)
|
rs757588621
|
|
NM_139058.3(ARX):c.748G>T (p.Glu250Ter)
|
rs1315423792
|
|
NM_144585.4(SLC22A12):c.361del (p.Val121fs)
|
rs1565132840
|
|
NM_144596.4(TTC8):c.1235A>T (p.Asp412Val)
|
rs1566859873
|
|
NM_144773.4(PROKR2):c.332T>G (p.Met111Arg)
|
rs914930539
|
|
NM_144997.7(FLCN):c.583G>T (p.Gly195Ter)
|
rs1567819544
|
|
NM_147127.5(EVC2):c.3358C>T (p.Gln1120Ter)
|
rs951561591
|
|
NM_147127.5(EVC2):c.419_424del (p.Phe140_Arg142delinsTer)
|
rs1560233040
|
|
NM_147127.5(EVC2):c.499_500del (p.Ile167fs)
|
rs1560230203
|
|
NM_147127.5(EVC2):c.710del (p.Gly237fs)
|
rs1560223934
|
|
NM_148960.3(CLDN19):c.626+15_626+17delinsTGT
|
rs1557550020
|
|
NM_152383.5(DIS3L2):c.2496+1G>T
|
rs1559220985
|
|
NM_152383.5(DIS3L2):c.33_34delinsAA (p.Pro12Thr)
|
rs1559542257
|
|
NM_152384.3(BBS5):c.184_185del (p.Leu62fs)
|
rs776675335
|
|
NM_152618.3(BBS12):c.1151del (p.Ser384fs)
|
rs1553941404
|
|
NM_153240.5(NPHP3):c.1887+1G>A
|
rs1560008103
|
|
NM_153240.5(NPHP3):c.1887+2T>A
|
rs1560008096
|
|
NM_153240.5(NPHP3):c.2692A>G (p.Arg898Gly)
|
rs1560003115
|
|
NM_153240.5(NPHP3):c.3739A>T (p.Lys1247Ter)
|
rs1559999153
|
|
NM_153240.5(NPHP3):c.3837dup (p.Ala1280fs)
|
rs1559998795
|
|
NM_153240.5(NPHP3):c.3934del (p.Thr1312fs)
|
rs1559998693
|
|
NM_153704.6(TMEM67):c.1063C>T (p.Gln355Ter)
|
rs1563459389
|
|
NM_153704.6(TMEM67):c.1122C>A (p.Tyr374Ter)
|
rs1563460098
|
|
NM_153704.6(TMEM67):c.1676C>T (p.Thr559Ile)
|
rs1563470521
|
|
NM_153704.6(TMEM67):c.2647T>C (p.Ser883Pro)
|
rs548693232
|
|
NM_153704.6(TMEM67):c.2702T>G (p.Leu901Arg)
|
rs1563482155
|
|
NM_153704.6(TMEM67):c.3G>T (p.Met1Ile)
|
rs1563672343
|
|
NM_153704.6(TMEM67):c.458G>T (p.Cys153Phe)
|
rs1563679434
|
|
NM_153717.3(EVC):c.2504C>A (p.Ser835Ter)
|
rs1560439043
|
|
NM_153717.3(EVC):c.252del (p.Arg85fs)
|
rs1560274387
|
|
NM_153717.3(EVC):c.2897_2918dup (p.Ser974fs)
|
rs1560450412
|
|
NM_153766.3(KCNJ1):c.1000C>T (p.Pro334Ser)
|
rs1565521547
|
|
NM_153766.3(KCNJ1):c.305G>A (p.Cys102Tyr)
|
rs1565522472
|
|
NM_153766.3(KCNJ1):c.623A>G (p.Tyr208Cys)
|
rs1565522061
|
|
NM_170707.4(LMNA):c.1603G>C (p.Gly535Arg)
|
rs1304542176
|
|
NM_170784.3(MKKS):c.1462_1463delinsAT (p.Ala488Ile)
|
rs1568662701
|
|
NM_170784.3(MKKS):c.624_625del (p.Arg208fs)
|
rs762613490
|
|
NM_172362.3(KCNH1):c.675G>T (p.Leu225Phe)
|
rs1558570068
|
|
NM_173551.5(ANKS6):c.130_157del (p.Glu44fs)
|
rs1564236717
|
|
NM_173551.5(ANKS6):c.1618-1G>C
|
rs1564206959
|
|
NM_173551.5(ANKS6):c.2473C>T (p.Gln825Ter)
|
rs1564177767
|
|
NM_173630.4(RTTN):c.2789-1G>C
|
rs1467484094
|
|
NM_173630.4(RTTN):c.2T>C (p.Met1Thr)
|
rs1568571414
|
|
NM_173689.7(CRB2):c.1046G>A (p.Gly349Asp)
|
rs1564372397
|
|
NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys)
|
rs765676223
|
|
NM_173689.7(CRB2):c.34dup (p.Gln12fs)
|
rs1442463365
|
|
NM_173689.7(CRB2):c.3700_3703del (p.Leu1234fs)
|
rs1564380625
|
|
NM_174916.3(UBR1):c.2380-20_2380-2del
|
rs1567130338
|
|
NM_175875.5(SIX5):c.391G>C (p.Ala131Pro)
|
rs1568565921
|
|
NM_176787.5(PIGN):c.130AGA[1] (p.Arg45del)
|
rs1568244811
|
|
NM_176787.5(PIGN):c.2180+1G>C
|
rs1568169374
|
|
NM_176787.5(PIGN):c.2620-2A>T
|
rs1568143319
|
|
NM_176787.5(PIGN):c.2685T>A (p.Tyr895Ter)
|
rs760573255
|
|
NM_178170.3(NEK8):c.2012T>C (p.Val671Ala)
|
rs1567762506
|
|
NM_181712.5(KANK4):c.676G>T (p.Glu226Ter)
|
rs757119605
|
|
NM_182476.3(COQ6):c.142_143dup (p.Ala49fs)
|
rs1566679742
|
|
NM_182916.3(TRNT1):c.472_473del (p.Met158fs)
|
rs1269738842
|
|
NM_198076.6(COX20):c.19_33dup (p.Pro7_Glu11dup)
|
rs1558174241
|
|
NM_198252.3(GSN):c.-9-2091_-9-2064del
|
rs764841269
|
|
NM_198252.3(GSN):c.1390_1392delinsTAT (p.Glu464Tyr)
|
rs1564578803
|
|
NM_198428.3(BBS9):c.558C>G (p.Tyr186Ter)
|
rs1562888583
|
|
NM_198525.3(KIF7):c.1296_1297delinsAA (p.Pro433Thr)
|
rs1567067173
|
|
NM_198525.3(KIF7):c.154_156delinsAAA (p.Asp52Lys)
|
rs1567069719
|
|
NM_198525.3(KIF7):c.2737_2738delinsTG (p.Lys913Trp)
|
rs1567059453
|
|
NM_198525.3(KIF7):c.3518-1G>C
|
rs1567057019
|
|
NM_198525.3(KIF7):c.839T>C (p.Leu280Pro)
|
rs1567067749
|
|
NM_198525.3(KIF7):c.983C>A (p.Pro328His)
|
rs1567067501
|
|
NM_203486.3(DLL3):c.388G>T (p.Glu130Ter)
|
rs1424242745
|
|
NM_203486.3(DLL3):c.529_535del (p.Arg177fs)
|
rs1452482256
|
|
NM_203486.3(DLL3):c.67del (p.Gln23fs)
|
rs1568447774
|
|
NM_207361.6(FREM2):c.105_106delinsTT (p.Leu36Phe)
|
rs1566101411
|
|
NM_207361.6(FREM2):c.1541_1542delinsGT (p.Ala514Gly)
|
rs1566103099
|
|
NM_207361.6(FREM2):c.1671T>G (p.Asp557Glu)
|
rs768299920
|
|
NM_207361.6(FREM2):c.7002_7005del (p.Glu2335fs)
|
rs768342700
|
|
NM_207361.6(FREM2):c.8612T>C (p.Leu2871Pro)
|
rs1566175991
|
|
NM_212482.4(FN1):c.44_46delinsTGG (p.Gln15_Cys16delinsLeuGly)
|
rs1559629940
|
|
NM_213606.4(SLC16A12):c.145T>G (p.Trp49Gly)
|
rs1564577020
|
|
NM_213606.4(SLC16A12):c.662del (p.Gly221fs)
|
rs1564568546
|
|
NR_178195.1(LFNG):n.265_268GATG[5]
|
rs34637446
|
|
NR_178195.1(LFNG):n.265_268GATG[8]
|
rs34637446
|
|