NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
NM_003640.5(ELP1):c.2204+6T>C
|
rs111033171
|
0.00051
|
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
|
rs111033270
|
0.00016
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00010
|
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)
|
rs756147087
|
0.00009
|
NM_022124.6(CDH23):c.336+1G>A
|
rs764824311
|
0.00007
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)
|
rs780987516
|
0.00006
|
NM_022124.6(CDH23):c.6050-9G>A
|
rs367928692
|
0.00006
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)
|
rs397517329
|
0.00004
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
|
rs137854550
|
0.00002
|
NM_003977.4(AIP):c.40C>T (p.Gln14Ter)
|
rs104894194
|
0.00002
|
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)
|
rs750027965
|
0.00002
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
0.00001
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)
|
rs80359541
|
0.00001
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
rs80358814
|
0.00001
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)
|
rs80359705
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)
|
rs11554273
|
0.00001
|
NM_000516.7(GNAS):c.602G>A (p.Arg201His)
|
rs121913495
|
0.00001
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)
|
rs768638173
|
0.00001
|
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter)
|
rs761911009
|
0.00001
|
NM_003977.4(AIP):c.910C>T (p.Arg304Ter)
|
rs104894195
|
0.00001
|
NM_016169.4(SUFU):c.436C>T (p.Arg146Ter)
|
rs1060501109
|
0.00001
|
NM_022124.6(CDH23):c.2289+1G>A
|
rs769433759
|
0.00001
|
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)
|
rs771766431
|
0.00001
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00001
|
NM_022124.6(CDH23):c.6319C>T (p.Arg2107Ter)
|
rs1306728898
|
0.00001
|
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His)
|
rs1270566026
|
0.00001
|
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer)
|
rs1278603247
|
0.00001
|
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)
|
rs121908354
|
0.00001
|
NM_022124.6(CDH23):c.7362+5G>A
|
rs727502931
|
0.00001
|
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter)
|
rs1190307769
|
0.00001
|
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)
|
rs121908355
|
0.00001
|
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn)
|
rs372388344
|
0.00001
|
NC_000010.10:g.(?_104262628)_(104595248_?)del
|
|
|
NC_000010.10:g.(?_104263900)_(104389922_?)del
|
|
|
NC_000010.10:g.(?_104352329)_(104352491_?)del
|
|
|
NC_000010.10:g.(?_104352329)_(104353832_?)del
|
|
|
NC_000010.10:g.(?_104386922)_(104392580_?)del
|
|
|
NC_000010.11:(102444036_?)_(?_104726221)del
|
|
|
NC_000010.11:g.(?_102504143)_(102550116_?)del
|
|
|
NC_000010.11:g.(?_102549960)_(102550116_?)del
|
|
|
NC_000010.11:g.(?_102593630)_(102597299_?)del
|
|
|
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)
|
rs80359760
|
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
rs80358391
|
|
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)
|
rs80358427
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)
|
rs80359302
|
|
NM_000059.4(BRCA2):c.1794_1798del
|
rs276174813
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
NM_000059.4(BRCA2):c.2150del (p.Cys717fs)
|
rs397507618
|
|
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)
|
rs80358494
|
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
rs80358557
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)
|
rs80359429
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)
|
rs80359454
|
|
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs)
|
rs2137510225
|
|
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)
|
rs786203494
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)
|
rs80359503
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter)
|
rs80358785
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter)
|
rs80358807
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
NM_000059.4(BRCA2):c.610dup (p.Leu204fs)
|
rs80359560
|
|
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs)
|
rs80359593
|
|
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs)
|
rs397507373
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer)
|
rs80359607
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7617+2T>G
|
rs81002843
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8332-1G>A
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
rs397507409
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs)
|
rs276174918
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)
|
rs397508045
|
|
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
NM_000264.5(PTCH1):c.1237C>T (p.Gln413Ter)
|
rs2118338419
|
|
NM_000264.5(PTCH1):c.2244del (p.Ala749fs)
|
rs1564032829
|
|
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)
|
rs1060500126
|
|
NM_000516.5:c.(?_-424)_(257_?)dup
|
|
|
NM_000516.7(GNAS):c.1A>G (p.Met1Val)
|
rs137854530
|
|
NM_000516.7(GNAS):c.348dup (p.Val117fs)
|
rs2090848106
|
|
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)
|
rs797045046
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg)
|
rs121913494
|
|
NM_000516.7(GNAS):c.681G>C (p.Gln227His)
|
rs137854533
|
|
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)
|
rs1601162438
|
|
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)
|
rs1057518907
|
|
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)
|
rs2089384365
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
NM_000546.6(TP53):c.389T>C (p.Leu130Pro)
|
rs1131691013
|
|
NM_000546.6(TP53):c.475_481dup (p.Ala161fs)
|
rs863223301
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.72dup (p.Leu25fs)
|
rs2151047224
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.817C>G (p.Arg273Gly)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000546.6(TP53):c.854A>T (p.Glu285Val)
|
rs121912667
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)
|
rs5030826
|
|
NM_000551.4(VHL):c.530_536del (p.Arg177fs)
|
rs1575932266
|
|
NM_001042492.3(NF1):c.1721+3A>G
|
rs1057518904
|
|
NM_001042492.3(NF1):c.2351_2352delinsC (p.Trp784fs)
|
rs1567848147
|
|
NM_001042492.3(NF1):c.4577+1G>A
|
rs1279529138
|
|
NM_001370259.2(MEN1):c.1831T>A (p.Ter611Arg)
|
rs1565635212
|
|
NM_001375883.1(GPR161):c.487_488del (p.Leu163fs)
|
rs147891461
|
|
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)
|
rs1553631860
|
|
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)
|
rs397514554
|
|
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)
|
rs775104326
|
|
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe)
|
rs121913400
|
|
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly)
|
rs137853226
|
|
NM_003640.5(ELP1):c.138dup (p.Val47fs)
|
rs1564110292
|
|
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)
|
rs137853022
|
|
NM_003640.5(ELP1):c.312T>C (p.Cys104=)
|
rs1291760879
|
|
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)
|
rs56126236
|
|
NM_003977.4(AIP):c.469-1G>A
|
rs267606555
|
|
NM_003977.4(AIP):c.543del (p.Ile182fs)
|
rs267606559
|
|
NM_003977.4(AIP):c.64C>T (p.Arg22Ter)
|
rs121908357
|
|
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del)
|
rs267606567
|
|
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)
|
rs121908356
|
|
NM_003977.4(AIP):c.824dup (p.His275fs)
|
rs267606580
|
|
NM_005154.3(USP8):c.[2138T>G;2150A>G]
|
|
|
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro)
|
rs672601307
|
|
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del)
|
rs672601306
|
|
NM_005154.5(USP8):c.2153C>G (p.Ser718Cys)
|
rs672601308
|
|
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg)
|
rs672601311
|
|
NM_005631.5(SMO):c.1417G>C (p.Asp473His)
|
rs17710891
|
|
NM_006565.4(CTCF):c.610dup (p.Thr204fs)
|
rs886041997
|
|
NM_016169.4(SUFU):c.1009del (p.His337fs)
|
rs869300423
|
|
NM_016169.4(SUFU):c.1018del (p.Ala340fs)
|
rs2135889203
|
|
NM_016169.4(SUFU):c.1022+1G>A
|
rs587776578
|
|
NM_016169.4(SUFU):c.1022del (p.Pro341fs)
|
|
|
NM_016169.4(SUFU):c.1077del (p.Glu359fs)
|
rs2135930082
|
|
NM_016169.4(SUFU):c.111del (p.Tyr38fs)
|
rs863224925
|
|
NM_016169.4(SUFU):c.1123del (p.Gln375fs)
|
rs2135930329
|
|
NM_016169.4(SUFU):c.1191del (p.Thr396_Tyr397insTer)
|
|
|
NM_016169.4(SUFU):c.1246_1249dup (p.Phe417fs)
|
|
|
NM_016169.4(SUFU):c.124dup (p.Arg42fs)
|
rs2062292476
|
|
NM_016169.4(SUFU):c.138_141del (p.Asp47fs)
|
|
|
NM_016169.4(SUFU):c.143dup (p.Pro49fs)
|
rs1589970134
|
|
NM_016169.4(SUFU):c.14_33del (p.Arg5fs)
|
|
|
NM_016169.4(SUFU):c.157C>T (p.Gln53Ter)
|
rs2135598685
|
|
NM_016169.4(SUFU):c.171dup (p.Val58fs)
|
rs1554840869
|
|
NM_016169.4(SUFU):c.175A>T (p.Lys59Ter)
|
rs1564654588
|
|
NM_016169.4(SUFU):c.222C>G (p.Tyr74Ter)
|
|
|
NM_016169.4(SUFU):c.256G>T (p.Glu86Ter)
|
|
|
NM_016169.4(SUFU):c.341del (p.Ser114fs)
|
rs1060501108
|
|
NM_016169.4(SUFU):c.37_53del (p.Thr13fs)
|
rs2135597189
|
|
NM_016169.4(SUFU):c.37_53dup (p.Gly19fs)
|
rs2135597189
|
|
NM_016169.4(SUFU):c.408G>A (p.Trp136Ter)
|
rs2135743382
|
|
NM_016169.4(SUFU):c.44C>T (p.Pro15Leu)
|
rs28942088
|
|
NM_016169.4(SUFU):c.454+1G>A
|
rs1564676479
|
|
NM_016169.4(SUFU):c.53_59del (p.Pro18fs)
|
rs2135597558
|
|
NM_016169.4(SUFU):c.53del (p.Pro18fs)
|
rs2135597588
|
|
NM_016169.4(SUFU):c.556C>T (p.Gln186Ter)
|
|
|
NM_016169.4(SUFU):c.576dup (p.Gly193fs)
|
rs2135867295
|
|
NM_016169.4(SUFU):c.581del (p.Val194fs)
|
|
|
NM_016169.4(SUFU):c.585_586dup (p.Thr196fs)
|
rs1554852279
|
|
NM_016169.4(SUFU):c.637C>T (p.Gln213Ter)
|
rs907135467
|
|
NM_016169.4(SUFU):c.642G>A (p.Trp214Ter)
|
|
|
NM_016169.4(SUFU):c.649_661del (p.Gln217fs)
|
rs1590062899
|
|
NM_016169.4(SUFU):c.71del (p.Pro24fs)
|
rs587776579
|
|
NM_016169.4(SUFU):c.71dup (p.Ala25fs)
|
rs587776579
|
|
NM_016169.4(SUFU):c.73dup (p.Ala25fs)
|
rs2135597894
|
|
NM_016169.4(SUFU):c.811_818dup (p.Cys273fs)
|
rs2063471372
|
|
NM_016169.4(SUFU):c.824G>A (p.Trp275Ter)
|
rs1564698683
|
|
NM_016169.4(SUFU):c.825G>A (p.Trp275Ter)
|
rs1590065940
|
|
NM_016169.4(SUFU):c.82_86del (p.Ser28fs)
|
rs2135597925
|
|
NM_016169.4(SUFU):c.846dup (p.Glu283fs)
|
rs1477199832
|
|
NM_016169.4(SUFU):c.847dup (p.Glu283fs)
|
rs2063472158
|
|
NM_016169.4(SUFU):c.859_863dup (p.Ser288fs)
|
rs2135881899
|
|
NM_016169.4(SUFU):c.87_88del (p.Phe30fs)
|
|
|
NM_016169.4(SUFU):c.886C>T (p.Gln296Ter)
|
rs2135882212
|
|
NM_016169.4(SUFU):c.892del (p.Arg298fs)
|
rs2063473101
|
|
NM_016169.4(SUFU):c.893_894insTGCCCCG (p.Arg299fs)
|
rs2135882232
|
|
NM_016169.4(SUFU):c.894dup (p.Arg299fs)
|
|
|
NM_016169.4(SUFU):c.895C>T (p.Arg299Ter)
|
rs1590066162
|
|
NM_016169.4(SUFU):c.895_896insTGTGT (p.Arg299fs)
|
rs1564698850
|
|
NM_016169.4(SUFU):c.897_898insAGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACA (p.Leu300fs)
|
|
|
NM_016169.4(SUFU):c.934del (p.Thr311_Leu312insTer)
|
rs2135888594
|
|
NM_016169.4(SUFU):c.95del (p.Pro32fs)
|
|
|
NM_020987.5(ANK3):c.7068dup (p.Glu2357fs)
|
|
|
NM_022124.6(CDH23):c.1087del (p.Val363fs)
|
rs747955135
|
|
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter)
|
rs1230303971
|
|
NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter)
|
rs2132820264
|
|
NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter)
|
rs397517327
|
|
NM_022124.6(CDH23):c.3862C>T (p.Gln1288Ter)
|
|
|
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu)
|
rs767004225
|
|
NM_022124.6(CDH23):c.4209+1G>T
|
rs727503841
|
|
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)
|
rs121908347
|
|
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs)
|
rs759981467
|
|
NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro)
|
rs758382198
|
|
NM_022124.6(CDH23):c.5712+1G>A
|
rs397517341
|
|
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn)
|
rs121908348
|
|
NM_022124.6(CDH23):c.6307G>T (p.Glu2103Ter)
|
rs1397549896
|
|
NM_022124.6(CDH23):c.6346_6347del (p.Phe2116fs)
|
|
|
NM_022124.6(CDH23):c.6393del (p.Ile2132fs)
|
rs754876029
|
|
NM_022124.6(CDH23):c.6620del (p.Leu2207fs)
|
|
|
NM_022124.6(CDH23):c.6968del (p.Pro2323fs)
|
rs397517350
|
|
NM_022124.6(CDH23):c.7101G>A (p.Trp2367Ter)
|
|
|
NM_022124.6(CDH23):c.7210C>T (p.Gln2404Ter)
|
rs2132968121
|
|
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=)
|
rs1292050472
|
|
NM_022124.6(CDH23):c.7908C>A (p.Tyr2636Ter)
|
|
|
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter)
|
rs878853337
|
|
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter)
|
rs1841773052
|
|
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs)
|
rs1564808024
|
|
NM_022124.6(CDH23):c.9319+1G>T
|
|
|
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp)
|
rs1052484950
|
|
NM_022124.6(CDH23):c.9489G>A (p.Trp3163Ter)
|
|
|
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs)
|
rs397517367
|
|
NM_022124.6(CDH23):c.9658del (p.Glu3220fs)
|
rs922700209
|
|
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu)
|
rs1556379508
|
|
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp)
|
rs73637412
|
|
NM_152641.4(ARID2):c.1837C>T (p.Gln613Ter)
|
|
|
NM_177438.3(DICER1):c.1498A>T (p.Lys500Ter)
|
rs875989782
|
|
NM_177438.3(DICER1):c.4050+1G>A
|
rs875989783
|
|
NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs)
|
rs875989784
|
|
NM_177438.3(DICER1):c.4633dup (p.Ser1545fs)
|
rs875989781
|
|
NM_177438.3(DICER1):c.4754C>G (p.Ser1585Ter)
|
rs875989779
|
|
NM_177438.3(DICER1):c.5103C>A (p.Tyr1701Ter)
|
rs875989780
|
|