NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00106
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_000144.5(FXN):c.118C>T (p.Arg40Cys)
|
rs145854903
|
0.00041
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)
|
rs104895304
|
0.00018
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)
|
rs371024165
|
0.00017
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)
|
rs201284672
|
0.00013
|
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg)
|
rs143027621
|
0.00012
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)
|
rs137852328
|
0.00008
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)
|
rs111033316
|
0.00006
|
NM_000492.4(CFTR):c.3140-26A>G
|
rs76151804
|
0.00006
|
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)
|
rs78194216
|
0.00006
|
NM_013296.5(GPSM2):c.1062+1G>T
|
rs777695770
|
0.00006
|
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro)
|
rs121908000
|
0.00005
|
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu)
|
rs764131178
|
0.00005
|
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)
|
rs104894565
|
0.00005
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)
|
rs80359505
|
0.00004
|
NM_000298.6(PKLR):c.1075C>T (p.Arg359Cys)
|
rs138871700
|
0.00004
|
NM_000441.2(SLC26A4):c.279del (p.Ser93fs)
|
rs786204421
|
0.00004
|
NM_000492.4(CFTR):c.1766+1G>A
|
rs121908748
|
0.00004
|
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)
|
rs767178508
|
0.00004
|
NM_000038.6(APC):c.70C>T (p.Arg24Ter)
|
rs145945630
|
0.00003
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)
|
rs17215500
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
NM_003060.4(SLC22A5):c.1053-2A>C
|
rs777004046
|
0.00003
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000071.3(CBS):c.959T>C (p.Val320Ala)
|
rs781567152
|
0.00002
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
NM_000517.6(HBA2):c.95+1G>A
|
rs63750158
|
0.00002
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_025114.4(CEP290):c.1066-1G>A
|
rs965522059
|
0.00002
|
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)
|
rs121909288
|
0.00001
|
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter)
|
rs80358556
|
0.00001
|
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs)
|
rs80359436
|
0.00001
|
NM_000059.4(BRCA2):c.4689G>A (p.Trp1563Ter)
|
rs886038108
|
0.00001
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
NM_000133.4(F9):c.1150C>T (p.Arg384Ter)
|
rs137852261
|
0.00001
|
NM_000133.4(F9):c.354G>A (p.Trp118Ter)
|
rs1234002716
|
0.00001
|
NM_000135.4(FANCA):c.1226-2A>G
|
rs773906241
|
0.00001
|
NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter)
|
rs113422242
|
0.00001
|
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)
|
rs111033739
|
0.00001
|
NM_000179.3(MSH6):c.628-2A>G
|
rs1114167725
|
0.00001
|
NM_000218.3(KCNQ1):c.477+5G>A
|
rs397508111
|
0.00001
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)
|
rs397516161
|
0.00001
|
NM_000298.6(PKLR):c.101-1G>A
|
rs1448381947
|
0.00001
|
NM_000350.3(ABCA4):c.123G>A (p.Trp41Ter)
|
rs748357067
|
0.00001
|
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile)
|
rs77409459
|
0.00001
|
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter)
|
rs121908760
|
0.00001
|
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)
|
rs386134230
|
0.00001
|
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)
|
rs397508464
|
0.00001
|
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)
|
rs121909019
|
0.00001
|
NM_000517.6(HBA2):c.98T>G (p.Met33Arg)
|
rs1468615416
|
0.00001
|
NM_000518.5(HBB):c.114G>A (p.Trp38Ter)
|
rs33974936
|
0.00001
|
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)
|
rs28942071
|
0.00001
|
NM_000539.3(RHO):c.50C>T (p.Thr17Met)
|
rs104893769
|
0.00001
|
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)
|
rs267606600
|
0.00001
|
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)
|
rs768638173
|
0.00001
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
NM_001364905.1(LRBA):c.2479C>T (p.Arg827Ter)
|
rs779575307
|
0.00001
|
NM_001365536.1(SCN9A):c.2521C>T (p.Arg841Ter)
|
rs780673293
|
0.00001
|
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter)
|
rs537704873
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)
|
rs72552725
|
0.00001
|
NM_004415.4(DSP):c.268C>T (p.Gln90Ter)
|
rs886039343
|
0.00001
|
NM_007294.4(BRCA1):c.212+3A>G
|
rs80358083
|
0.00001
|
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
|
rs80357970
|
0.00001
|
NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val)
|
rs80357069
|
0.00001
|
NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter)
|
rs886038200
|
0.00001
|
NM_022041.4(GAN):c.851+1G>A
|
rs747291494
|
0.00001
|
NM_144997.7(FLCN):c.779+1G>T
|
rs758175953
|
0.00001
|
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp)
|
rs1085307415
|
|
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)
|
rs863223408
|
|
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg)
|
rs1555152520
|
|
NM_000020.3(ACVRL1):c.271del (p.Asp91fs)
|
rs1555152526
|
|
NM_000020.3(ACVRL1):c.525+1G>A
|
rs1555152710
|
|
NM_000020.3(ACVRL1):c.626-3C>G
|
rs1555152899
|
|
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del)
|
rs387906391
|
|
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)
|
rs762773076
|
|
NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs)
|
rs1555152955
|
|
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln)
|
rs128624219
|
|
NM_000033.4(ABCD1):c.1440del (p.Ile481fs)
|
rs1557054318
|
|
NM_000033.4(ABCD1):c.1866-10G>A
|
rs398123108
|
|
NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter)
|
rs1557052555
|
|
NM_000038.6(APC):c.1370C>G (p.Ser457Ter)
|
rs1060503333
|
|
NM_000038.6(APC):c.2547_2550del (p.Asp849fs)
|
rs398123118
|
|
NM_000038.6(APC):c.2626C>T (p.Arg876Ter)
|
rs121913333
|
|
NM_000038.6(APC):c.311C>G (p.Ser104Ter)
|
rs74953290
|
|
NM_000038.6(APC):c.3146G>A (p.Trp1049Ter)
|
rs876658667
|
|
NM_000038.6(APC):c.3523C>T (p.Gln1175Ter)
|
rs1554085081
|
|
NM_000038.6(APC):c.426_427del (p.Leu143fs)
|
rs587782557
|
|
NM_000038.6(APC):c.532-1G>A
|
rs1554072547
|
|
NM_000038.6(APC):c.643C>T (p.Gln215Ter)
|
rs137854577
|
|
NM_000038.6(APC):c.834+1G>A
|
rs1554076225
|
|
NM_000051.3(ATM):c.3666A[5] (p.Asn1223Lysfs)
|
rs1555092425
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs)
|
rs863225466
|
|
NM_000059.4(BRCA2):c.1329del (p.Asn444fs)
|
rs869320781
|
|
NM_000059.4(BRCA2):c.2103_2106del (p.Phe701fs)
|
rs80359324
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)
|
rs80358659
|
|
NM_000059.4(BRCA2):c.4211_4215del (p.Thr1403_Ser1404insTer)
|
rs786203340
|
|
NM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter)
|
rs80358670
|
|
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs)
|
rs397507720
|
|
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs)
|
rs80359477
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)
|
rs80358840
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs)
|
rs80359598
|
|
NM_000059.4(BRCA2):c.7681C>T (p.Gln2561Ter)
|
rs80358994
|
|
NM_000059.4(BRCA2):c.7977-1G>C
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter)
|
rs397507411
|
|
NM_000059.4(BRCA2):c.8837T>A (p.Leu2946Ter)
|
rs431825371
|
|
NM_000061.3(BTK):c.1780G>A (p.Gly594Arg)
|
rs1555977339
|
|
NM_000061.3(BTK):c.863G>A (p.Arg288Gln)
|
rs1555978277
|
|
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter)
|
rs193922135
|
|
NM_000088.4(COL1A1):c.1720del (p.Arg574fs)
|
rs1555573621
|
|
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser)
|
rs67368147
|
|
NM_000088.4(COL1A1):c.2128-1G>C
|
rs67543897
|
|
NM_000088.4(COL1A1):c.2298_2299inv (p.Gly767Ser)
|
|
|
NM_000088.4(COL1A1):c.2829+1G>A
|
rs72653156
|
|
NM_000116.5(TAFAZZIN):c.483del (p.Met162fs)
|
rs1557193815
|
|
NM_000132.4(F8):c.1350C>A (p.Tyr450Ter)
|
rs1557281954
|
|
NM_000132.4(F8):c.1589A>G (p.Tyr530Cys)
|
rs1557281265
|
|
NM_000132.4(F8):c.270del (p.Leu90_Leu91insTer)
|
rs1557285171
|
|
NM_000132.4(F8):c.323A>C (p.Lys108Thr)
|
rs137852384
|
|
NM_000133.4(F9):c.1106_1113del (p.Leu369fs)
|
rs1603267391
|
|
NM_000133.4(F9):c.1113C>A (p.Tyr371Ter)
|
rs1603267398
|
|
NM_000133.4(F9):c.1120G>T (p.Val374Phe)
|
rs137852271
|
|
NM_000133.4(F9):c.1135C>T (p.Arg379Ter)
|
rs137852258
|
|
NM_000133.4(F9):c.1136G>A (p.Arg379Gln)
|
rs137852259
|
|
NM_000133.4(F9):c.1173T>A (p.Tyr391Ter)
|
rs1603267411
|
|
NM_000133.4(F9):c.1186T>A (p.Cys396Ser)
|
rs1603267420
|
|
NM_000133.4(F9):c.1241C>T (p.Pro414Leu)
|
rs1603267443
|
|
NM_000133.4(F9):c.127C>T (p.Arg43Trp)
|
rs1603264205
|
|
NM_000133.4(F9):c.128G>A (p.Arg43Gln)
|
rs1275708479
|
|
NM_000133.4(F9):c.1304G>A (p.Cys435Tyr)
|
rs1385141619
|
|
NM_000133.4(F9):c.1325G>A (p.Gly442Glu)
|
rs1603267474
|
|
NM_000133.4(F9):c.1361T>C (p.Ile454Thr)
|
rs1603267486
|
|
NM_000133.4(F9):c.226G>A (p.Glu76Lys)
|
rs1603264236
|
|
NM_000133.4(F9):c.252+5G>A
|
rs1266788575
|
|
NM_000133.4(F9):c.260T>G (p.Phe87Cys)
|
rs1603264299
|
|
NM_000133.4(F9):c.304T>C (p.Cys102Arg)
|
rs1603264719
|
|
NM_000133.4(F9):c.344A>G (p.Tyr115Cys)
|
rs1603264727
|
|
NM_000133.4(F9):c.38del (p.Gly13fs)
|
rs1603263376
|
|
NM_000133.4(F9):c.392-1G>C
|
rs1603265480
|
|
NM_000133.4(F9):c.416G>A (p.Gly139Asp)
|
rs1216516070
|
|
NM_000133.4(F9):c.422G>A (p.Cys141Tyr)
|
rs1351675410
|
|
NM_000133.4(F9):c.427C>T (p.Gln143Ter)
|
rs1603265487
|
|
NM_000133.4(F9):c.484C>T (p.Arg162Ter)
|
rs137852272
|
|
NM_000133.4(F9):c.509G>A (p.Cys170Tyr)
|
rs1603265500
|
|
NM_000133.4(F9):c.533G>T (p.Cys178Phe)
|
rs1603265779
|
|
NM_000133.4(F9):c.719G>A (p.Trp240Ter)
|
rs1603265827
|
|
NM_000133.4(F9):c.720G>A (p.Trp240Ter)
|
rs1603265830
|
|
NM_000133.4(F9):c.723+1G>A
|
rs1603265832
|
|
NM_000133.4(F9):c.731T>C (p.Leu244Ser)
|
rs1603267171
|
|
NM_000133.4(F9):c.88+1G>T
|
rs1603263397
|
|
NM_000133.4(F9):c.880C>T (p.Arg294Ter)
|
rs137852248
|
|
NM_000133.4(F9):c.892C>T (p.Arg298Ter)
|
rs137852250
|
|
NM_000133.4(F9):c.947T>C (p.Ile316Thr)
|
rs1603267344
|
|
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)
|
rs794728165
|
|
NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly)
|
rs794728326
|
|
NM_000138.5(FBN1):c.1532A>G (p.Tyr511Cys)
|
rs1555400281
|
|
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter)
|
rs113812345
|
|
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter)
|
rs137854476
|
|
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
|
rs730880099
|
|
NM_000138.5(FBN1):c.163G>T (p.Gly55Ter)
|
rs1566944812
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.1961-2A>G
|
rs1555399779
|
|
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)
|
rs140583
|
|
NM_000138.5(FBN1):c.2858del (p.Ile953fs)
|
rs1555398836
|
|
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
|
rs137854467
|
|
NM_000138.5(FBN1):c.3839_3846del (p.Asp1280fs)
|
rs113603747
|
|
NM_000138.5(FBN1):c.3856del (p.Asp1285_Leu1286insTer)
|
rs1555398170
|
|
NM_000138.5(FBN1):c.4816+2T>C
|
rs1597547226
|
|
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter)
|
rs1555395750
|
|
NM_000138.5(FBN1):c.6087C>A (p.Cys2029Ter)
|
rs1555395475
|
|
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter)
|
rs111687884
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
NM_000138.5(FBN1):c.7032_7054del (p.Asn2346fs)
|
rs1597518038
|
|
NM_000138.5(FBN1):c.7399C>T (p.Gln2467Ter)
|
rs1566892727
|
|
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)
|
rs200309328
|
|
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys)
|
rs121913484
|
|
NM_000155.4(GALT):c.452T>C (p.Val151Ala)
|
rs111033701
|
|
NM_000155.4(GALT):c.524G>A (p.Gly175Asp)
|
rs111033718
|
|
NM_000155.4(GALT):c.748C>A (p.Pro250Thr)
|
rs111033759
|
|
NM_000179.3(MSH6):c.1241G>A (p.Trp414Ter)
|
rs587779914
|
|
NM_000179.3(MSH6):c.1795G>T (p.Gly599Ter)
|
rs756043669
|
|
NM_000179.3(MSH6):c.2429del (p.Glu810fs)
|
rs1572727176
|
|
NM_000179.3(MSH6):c.3586G>T (p.Glu1196Ter)
|
rs75095286
|
|
NM_000180.4(GUCY2D):c.2513G>C (p.Arg838Pro)
|
rs61750173
|
|
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)
|
rs120074193
|
|
NM_000238.4(KCNH2):c.1557+1G>C
|
rs886039043
|
|
NM_000249.4(MLH1):c.207+2T>C
|
rs267607722
|
|
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)
|
rs63750615
|
|
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs)
|
rs63751618
|
|
NM_000251.3(MSH2):c.2634+1G>A
|
rs267608019
|
|
NM_000251.3(MSH2):c.263_264del (p.Phe88fs)
|
rs267607920
|
|
NM_000251.3(MSH2):c.811_814del (p.Ser271fs)
|
rs587779185
|
|
NM_000256.3(MYBPC3):c.2149-1G>A
|
rs727504334
|
|
NM_000297.4(PKD2):c.2159del (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2523-1G>A
|
rs1553928728
|
|
NM_000297.4(PKD2):c.481_502del (p.Gly161fs)
|
rs1553923513
|
|
NM_000298.6(PKLR):c.169C>T (p.Gln57Ter)
|
rs772567442
|
|
NM_000298.6(PKLR):c.507+1G>A
|
rs1572057140
|
|
NM_000314.8(PTEN):c.1027-2A>C
|
rs1085308041
|
|
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter)
|
rs786204910
|
|
NM_000314.8(PTEN):c.705del (p.Asp236fs)
|
rs1554825202
|
|
NM_000314.8(PTEN):c.938del (p.Lys313fs)
|
rs1554825571
|
|
NM_000335.5(SCN5A):c.1657G>T (p.Glu553Ter)
|
rs1207394743
|
|
NM_000342.4(SLC4A1):c.1469G>A (p.Arg490His)
|
rs1598299485
|
|
NM_000342.4(SLC4A1):c.243G>A (p.Trp81Ter)
|
rs1598302037
|
|
NM_000346.4(SOX9):c.1099_1100delinsG (p.Pro367fs)
|
rs1555629374
|
|
NM_000346.4(SOX9):c.1312_1330del (p.Ser438fs)
|
rs1598176962
|
|
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)
|
rs121918071
|
|
NM_000371.4(TTR):c.95T>C (p.Leu32Pro)
|
rs121918094
|
|
NM_000402.4(G6PD):c.1268G>A (p.Arg423His)
|
rs137852316
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)
|
rs137853097
|
|
NM_000441.2(SLC26A4):c.765+2T>C
|
rs397516432
|
|
NM_000455.5(STK11):c.772del (p.Asp258fs)
|
rs1599927589
|
|
NM_000492.4(CFTR):c.1210-2A>C
|
rs397508179
|
|
NM_000492.4(CFTR):c.1340del (p.Lys447fs)
|
rs397508192
|
|
NM_000492.4(CFTR):c.1393-1G>A
|
rs397508200
|
|
NM_000492.4(CFTR):c.1766+1G>C
|
rs121908748
|
|
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs)
|
rs397508325
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2428A>T (p.Arg810Ter)
|
rs377447726
|
|
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)
|
rs121908769
|
|
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)
|
rs142394380
|
|
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg)
|
rs36210737
|
|
NM_000492.4(CFTR):c.4251del (p.Glu1418fs)
|
rs397508706
|
|
NM_000492.4(CFTR):c.647G>A (p.Trp216Ter)
|
rs397508775
|
|
NM_000492.4(CFTR):c.708del (p.Gln237fs)
|
rs1299250440
|
|
NM_000518.4(HBB):c.-80T>A
|
rs33980857
|
|
NM_000518.4(HBB):c.275T>C (p.Leu92Pro)
|
rs33917785
|
|
NM_000518.5(HBB):c.113G>A (p.Trp38Ter)
|
rs33991059
|
|
NM_000518.5(HBB):c.371_378del (p.Thr124fs)
|
rs1554917561
|
|
NM_000518.5(HBB):c.383A>C (p.Gln128Pro)
|
rs33910569
|
|
NM_000518.5(HBB):c.3G>A (p.Met1Ile)
|
rs33930702
|
|
NM_000518.5(HBB):c.431A>C (p.His144Pro)
|
rs33918338
|
|
NM_000518.5(HBB):c.59A>G (p.Asn20Ser)
|
rs33972047
|
|
NM_000518.5(HBB):c.92+2T>G
|
rs33956879
|
|
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter)
|
rs988192535
|
|
NM_000531.6(OTC):c.830G>A (p.Arg277Gln)
|
rs66724222
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
|
NM_000546.6(TP53):c.416del (p.Lys139fs)
|
rs1597371266
|
|
NM_000546.6(TP53):c.790del (p.Leu264fs)
|
rs1060501194
|
|
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter)
|
rs45517270
|
|
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter)
|
rs45517396
|
|
NM_000551.4(VHL):c.477del (p.Glu160fs)
|
rs730882020
|
|
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)
|
rs5030821
|
|
NM_000552.5(VWF):c.3946G>A (p.Val1316Met)
|
rs61749397
|
|
NM_000552.5(VWF):c.4382C>T (p.Ala1461Val)
|
rs61750089
|
|
NM_000552.5(VWF):c.4496T>A (p.Val1499Glu)
|
rs1555194979
|
|
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp)
|
rs61750117
|
|
NM_000558.5(HBA1):c.45G>A (p.Trp15Ter)
|
rs1596573335
|
|
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)
|
rs104894580
|
|
NM_001009944.3(PKD1):c.11274_11275del (p.Tyr3759fs)
|
rs1555446105
|
|
NM_001009944.3(PKD1):c.11538-2del
|
rs1555445595
|
|
NM_001009944.3(PKD1):c.11713-1G>A
|
rs867092741
|
|
NM_001009944.3(PKD1):c.11912del (p.Pro3971fs)
|
rs1555445123
|
|
NM_001009944.3(PKD1):c.1307_1308del (p.Cys436fs)
|
rs1555458891
|
|
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter)
|
rs1555458032
|
|
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter)
|
rs1555457446
|
|
NM_001009944.3(PKD1):c.3285C>A (p.Tyr1095Ter)
|
rs558648661
|
|
NM_001009944.3(PKD1):c.4258G>T (p.Glu1420Ter)
|
rs1555456139
|
|
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)
|
rs1555454411
|
|
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs)
|
rs1555454353
|
|
NM_001009944.3(PKD1):c.8905C>T (p.Gln2969Ter)
|
rs200520583
|
|
NM_001009944.3(PKD1):c.9994del (p.Val3332fs)
|
rs1555449235
|
|
NM_001042492.3(NF1):c.1009G>T (p.Glu337Ter)
|
rs747241884
|
|
NM_001042492.3(NF1):c.1094C>G (p.Ser365Ter)
|
rs864622107
|
|
NM_001042492.3(NF1):c.1178del (p.His393fs)
|
rs1555611037
|
|
NM_001042492.3(NF1):c.1185+2T>G
|
rs1555611043
|
|
NM_001042492.3(NF1):c.1532del (p.Pro511fs)
|
rs1597703352
|
|
NM_001042492.3(NF1):c.1783_1784del (p.Glu595fs)
|
rs786204059
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.204+1G>A
|
rs886039548
|
|
NM_001042492.3(NF1):c.2077_2078del (p.Met693fs)
|
rs1555613795
|
|
NM_001042492.3(NF1):c.2325+1G>A
|
rs1555613933
|
|
NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter)
|
rs1555613983
|
|
NM_001042492.3(NF1):c.2407C>T (p.Gln803Ter)
|
rs1567848213
|
|
NM_001042492.3(NF1):c.2553C>A (p.Cys851Ter)
|
rs2230852
|
|
NM_001042492.3(NF1):c.2674del (p.Ser892fs)
|
rs1555614296
|
|
NM_001042492.3(NF1):c.3076A>T (p.Arg1026Ter)
|
rs1555614529
|
|
NM_001042492.3(NF1):c.334C>T (p.Gln112Ter)
|
rs1555606061
|
|
NM_001042492.3(NF1):c.338del (p.Leu113fs)
|
rs1597635740
|
|
NM_001042492.3(NF1):c.3537del (p.Phe1179fs)
|
rs1555615026
|
|
NM_001042492.3(NF1):c.3665del (p.Pro1222fs)
|
rs867391752
|
|
NM_001042492.3(NF1):c.3757_3797del (p.Leu1253fs)
|
rs1555615447
|
|
NM_001042492.3(NF1):c.3790G>T (p.Glu1264Ter)
|
rs863224660
|
|
NM_001042492.3(NF1):c.3974+1G>A
|
rs1567852849
|
|
NM_001042492.3(NF1):c.4015_4028del (p.Asn1338_Leu1339insTer)
|
rs1597735056
|
|
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter)
|
rs1131691072
|
|
NM_001042492.3(NF1):c.4577+1G>A
|
rs1279529138
|
|
NM_001042492.3(NF1):c.4669del (p.Thr1557fs)
|
rs1597748891
|
|
NM_001042492.3(NF1):c.4700C>G (p.Ser1567Ter)
|
rs1555619051
|
|
NM_001042492.3(NF1):c.4892T>G (p.Leu1631Ter)
|
rs1555533292
|
|
NM_001042492.3(NF1):c.5333_5334del (p.Phe1778fs)
|
rs1555533566
|
|
NM_001042492.3(NF1):c.551del (p.Asn184fs)
|
rs1555607102
|
|
NM_001042492.3(NF1):c.5765_5766del (p.Leu1922fs)
|
rs1555533880
|
|
NM_001042492.3(NF1):c.5780del (p.Leu1927fs)
|
rs1135402880
|
|
NM_001042492.3(NF1):c.6246del (p.Arg2083fs)
|
rs1597842843
|
|
NM_001042492.3(NF1):c.6373_6376del (p.Leu2125fs)
|
rs1555534755
|
|
NM_001042492.3(NF1):c.654+1G>A
|
rs1060500245
|
|
NM_001042492.3(NF1):c.6583_6586del (p.Glu2195fs)
|
rs1131691084
|
|
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs)
|
rs1555535032
|
|
NM_001042492.3(NF1):c.7040del (p.Ser2347fs)
|
rs1597848220
|
|
NM_001042492.3(NF1):c.7117C>T (p.Gln2373Ter)
|
rs1555535417
|
|
NM_001042492.3(NF1):c.7288G>T (p.Glu2430Ter)
|
rs1555536035
|
|
NM_001042492.3(NF1):c.731-1_731del
|
rs1555608925
|
|
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter)
|
rs786202457
|
|
NM_001042492.3(NF1):c.7474C>T (p.Gln2492Ter)
|
rs1555536340
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
NM_001042492.3(NF1):c.7970+1G>A
|
rs1555536773
|
|
NM_001042492.3(NF1):c.801G>A (p.Trp267Ter)
|
rs1064794273
|
|
NM_001042492.3(NF1):c.889-2A>G
|
rs878853922
|
|
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)
|
rs786203950
|
|
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)
|
rs143353451
|
|
NM_001065.4(TNFRSF1A):c.251G>A (p.Cys84Tyr)
|
rs104895224
|
|
NM_001081.4(CUBN):c.2496dup (p.Pro833fs)
|
rs1554816715
|
|
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)
|
rs28935469
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
NM_001110792.2(MECP2):c.746del (p.Gly249fs)
|
rs61749743
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001114753.3(ENG):c.1273-2A>G
|
rs373842615
|
|
NM_001114753.3(ENG):c.1501G>T (p.Gly501Ter)
|
rs372072854
|
|
NM_001114753.3(ENG):c.1541del (p.Gly514fs)
|
rs1554809268
|
|
NM_001114753.3(ENG):c.1686+1G>A
|
rs1554809228
|
|
NM_001114753.3(ENG):c.1A>G (p.Met1Val)
|
rs1060501418
|
|
NM_001114753.3(ENG):c.219G>A (p.Thr73=)
|
rs755348996
|
|
NM_001114753.3(ENG):c.220-1G>A
|
rs1554810936
|
|
NM_001114753.3(ENG):c.41T>C (p.Leu14Pro)
|
rs1554813788
|
|
NM_001114753.3(ENG):c.760C>T (p.Gln254Ter)
|
rs1554810234
|
|
NM_001114753.3(ENG):c.765del (p.Tyr258fs)
|
rs1554810232
|
|
NM_001204.7(BMPR2):c.1077_1078del (p.Gly360fs)
|
rs1574493773
|
|
NM_001204.7(BMPR2):c.1506del (p.Glu503fs)
|
rs1553512523
|
|
NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr)
|
rs1085307215
|
|
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro)
|
rs28937896
|
|
NM_001250.6(CD40):c.256+2T>C
|
rs774195387
|
|
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter)
|
rs781540455
|
|
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter)
|
rs397514332
|
|
NM_001355436.2(SPTB):c.1A>G (p.Met1Val)
|
rs121918651
|
|
NM_001355436.2(SPTB):c.3128G>A (p.Trp1043Ter)
|
rs1594775390
|
|
NM_001355436.2(SPTB):c.4058del (p.Lys1353fs)
|
rs1594770057
|
|
NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter)
|
rs1594767593
|
|
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe)
|
rs1557229599
|
|
NM_001360016.2(G6PD):c.1465C>T (p.Pro489Ser)
|
rs1603411177
|
|
NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter)
|
rs864622615
|
|
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.350del (p.Leu117fs)
|
rs1555166387
|
|
NM_001370259.2(MEN1):c.514G>T (p.Asp172Tyr)
|
rs1114167494
|
|
NM_001370259.2(MEN1):c.783+1G>A
|
rs794728652
|
|
NM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter)
|
rs1555165128
|
|
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)
|
rs397514436
|
|
NM_001844.5(COL2A1):c.1537G>A (p.Gly513Ser)
|
rs1555167156
|
|
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu)
|
rs137854450
|
|
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)
|
rs121918468
|
|
NM_002834.5(PTPN11):c.1530G>T (p.Gln510His)
|
|
|
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)
|
rs397507523
|
|
NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp)
|
rs397516809
|
|
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)
|
rs121918456
|
|
NM_002890.3(RASA1):c.1103-2A>C
|
rs1484719321
|
|
NM_002890.3(RASA1):c.1534C>T (p.Arg512Ter)
|
rs1554048066
|
|
NM_002890.3(RASA1):c.1703G>A (p.Trp568Ter)
|
rs1580375996
|
|
NM_002890.3(RASA1):c.2604-2A>C
|
rs1554049882
|
|
NM_002890.3(RASA1):c.431_438del (p.Pro144fs)
|
rs1580179449
|
|
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)
|
rs786202100
|
|
NM_003000.3(SDHB):c.72+1G>T
|
rs587782703
|
|
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter)
|
rs1050032491
|
|
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)
|
rs121908893
|
|
NM_003238.6(TGFB2):c.821dup (p.Asn274fs)
|
rs863223796
|
|
NM_004004.6(GJB2):c.11del (p.Gly4fs)
|
rs1555342014
|
|
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)
|
rs750188782
|
|
NM_004004.6(GJB2):c.250G>T (p.Val84Leu)
|
rs104894409
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
NM_004006.3(DMD):c.1481del (p.Lys494fs)
|
rs1556853022
|
|
NM_004006.3(DMD):c.1704+1G>A
|
rs794727123
|
|
NM_004006.3(DMD):c.2101G>T (p.Glu701Ter)
|
rs1556780711
|
|
NM_004006.3(DMD):c.2416G>T (p.Glu806Ter)
|
rs1557383761
|
|
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter)
|
rs753662330
|
|
NM_004006.3(DMD):c.4060del (p.Leu1354fs)
|
rs1557357445
|
|
NM_004006.3(DMD):c.4117C>T (p.Gln1373Ter)
|
rs398123948
|
|
NM_004006.3(DMD):c.4240C>T (p.Gln1414Ter)
|
rs863224997
|
|
NM_004006.3(DMD):c.4845+2T>G
|
rs1557315881
|
|
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)
|
rs398123981
|
|
NM_004006.3(DMD):c.5350G>T (p.Glu1784Ter)
|
rs777864641
|
|
NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter)
|
rs773643220
|
|
NM_004006.3(DMD):c.6128_6131del (p.Asp2043fs)
|
rs863225006
|
|
NM_004006.3(DMD):c.6614+2T>C
|
rs1060502641
|
|
NM_004006.3(DMD):c.686T>G (p.Leu229Ter)
|
rs1556930769
|
|
NM_004006.3(DMD):c.7899G>A (p.Trp2633Ter)
|
rs1556790316
|
|
NM_004006.3(DMD):c.8391-2A>G
|
rs1556665303
|
|
NM_004006.3(DMD):c.8782A>T (p.Lys2928Ter)
|
rs1556656298
|
|
NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter)
|
rs1556656184
|
|
NM_004006.3(DMD):c.9180del (p.Trp3061fs)
|
rs1569526156
|
|
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)
|
rs121913355
|
|
NM_004360.5(CDH1):c.656del (p.Pro219fs)
|
rs1555515284
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
NM_005413.4(SIX3):c.339G>T (p.Trp113Cys)
|
rs137853021
|
|
NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg)
|
rs397517148
|
|
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)
|
rs397517172
|
|
NM_005902.4(SMAD3):c.539del (p.Pro180fs)
|
rs1555412294
|
|
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)
|
rs869025193
|
|
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)
|
rs1346554630
|
|
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)
|
rs515726210
|
|
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer)
|
rs80359880
|
|
NM_007294.4(BRCA1):c.1110del (p.Pro371fs)
|
rs1555592474
|
|
NM_007294.4(BRCA1):c.1127del (p.Asn376fs)
|
rs80357821
|
|
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)
|
rs80359874
|
|
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter)
|
rs80356893
|
|
NM_007294.4(BRCA1):c.1999C>T (p.Gln667Ter)
|
rs80356889
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
NM_007294.4(BRCA1):c.2398_2401del (p.Lys800fs)
|
rs786202684
|
|
NM_007294.4(BRCA1):c.2594del (p.Lys865fs)
|
rs80357756
|
|
NM_007294.4(BRCA1):c.2713C>T (p.Gln905Ter)
|
rs397509002
|
|
NM_007294.4(BRCA1):c.2940del (p.Pro981fs)
|
rs80357876
|
|
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)
|
rs62625307
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)
|
rs28897686
|
|
NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter)
|
rs80357318
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)
|
rs80359876
|
|
NM_007294.4(BRCA1):c.4987-1G>A
|
rs730881495
|
|
NM_007294.4(BRCA1):c.5193+1del
|
rs397509236
|
|
NM_007294.4(BRCA1):c.5277+1G>A
|
rs80358150
|
|
NM_007294.4(BRCA1):c.676del (p.Cys226fs)
|
rs80357941
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
NM_012452.3(TNFRSF13B):c.431C>G (p.Ser144Ter)
|
rs104894650
|
|
NM_014804.3(KIAA0753):c.1571_1572del (p.Arg524fs)
|
rs770256450
|
|
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)
|
rs28940292
|
|
NM_014874.4(MFN2):c.493C>T (p.His165Tyr)
|
rs119103262
|
|
NM_015506.3(MMACHC):c.352del (p.Gln118fs)
|
rs749264632
|
|
NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter)
|
rs1586350727
|
|
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)
|
rs794727293
|
|
NM_017780.4(CHD7):c.559C>T (p.Gln187Ter)
|
rs1586248834
|
|
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter)
|
rs587783455
|
|
NM_020975.6(RET):c.1826G>T (p.Cys609Phe)
|
rs77939446
|
|
NM_020975.6(RET):c.1858T>G (p.Cys620Gly)
|
rs77316810
|
|
NM_020975.6(RET):c.1859G>T (p.Cys620Phe)
|
rs77503355
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_053274.3(GLMN):c.1179_1181del (p.Asn393del)
|
rs773442562
|
|
NM_058216.3(RAD51C):c.93del (p.Phe32fs)
|
rs730881942
|
|
NM_144997.7(FLCN):c.1177-5_1177-3del
|
rs767671406
|
|
NM_144997.7(FLCN):c.1188del (p.Val397fs)
|
rs1567809782
|
|
NM_144997.7(FLCN):c.1301-2A>G
|
rs1555607296
|
|
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)
|
rs879255678
|
|
NM_144997.7(FLCN):c.1432+1G>A
|
rs755959303
|
|
NM_144997.7(FLCN):c.507G>A (p.Trp169Ter)
|
rs1555610290
|
|
NM_147127.5(EVC2):c.1110del (p.Glu371fs)
|
rs1553846613
|
|
NM_147127.5(EVC2):c.645G>A (p.Trp215Ter)
|
rs779857359
|
|
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)
|
rs118192212
|
|
NM_181523.3(PIK3R1):c.1425+1G>C
|
rs587777709
|
|
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter)
|
rs147321712
|
|
NM_194454.3(KRIT1):c.1315G>T (p.Gly439Ter)
|
rs1584881660
|
|
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)
|
rs267607203
|
|
NM_194454.3(KRIT1):c.1807del (p.His603fs)
|
rs886039572
|
|
NM_194454.3(KRIT1):c.1890G>A (p.Trp630Ter)
|
rs1554503009
|
|
NM_194454.3(KRIT1):c.1932dup (p.Phe645fs)
|
rs1554502927
|
|
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)
|
rs746551311
|
|
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)
|
rs794727579
|
|
m.3271T>C
|
rs199474658
|
|