NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter)
|
rs80356681
|
0.00005
|
NM_004628.5(XPC):c.2033+1G>A
|
rs764480429
|
0.00002
|
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)
|
rs121913293
|
0.00001
|
NM_000314.8(PTEN):c.518G>A (p.Arg173His)
|
rs121913294
|
0.00001
|
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter)
|
rs1714132239
|
0.00001
|
NM_153717.3(EVC):c.2894+3A>G
|
rs1424976594
|
0.00001
|
NM_000057.4(BLM):c.98+1G>A
|
rs750293380
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
NM_000228.3(LAMB3):c.1143T>A (p.Cys381Ter)
|
rs769748910
|
|
NM_000228.3(LAMB3):c.1204A>T (p.Lys402Ter)
|
|
|
NM_000228.3(LAMB3):c.121del (p.Leu41fs)
|
|
|
NM_000228.3(LAMB3):c.1266C>G (p.Tyr422Ter)
|
rs766227083
|
|
NM_000228.3(LAMB3):c.1319_1325delinsAGG (p.Arg440fs)
|
|
|
NM_000228.3(LAMB3):c.1426C>T (p.Gln476Ter)
|
rs1666507638
|
|
NM_000228.3(LAMB3):c.1435G>T (p.Glu479Ter)
|
|
|
NM_000228.3(LAMB3):c.1474C>T (p.Gln492Ter)
|
rs1666505168
|
|
NM_000228.3(LAMB3):c.1479C>A (p.Cys493Ter)
|
rs1447665931
|
|
NM_000228.3(LAMB3):c.1510G>T (p.Glu504Ter)
|
rs1666482613
|
|
NM_000228.3(LAMB3):c.1665C>A (p.Cys555Ter)
|
rs1666432128
|
|
NM_000228.3(LAMB3):c.1783C>T (p.Gln595Ter)
|
rs1666422338
|
|
NM_000228.3(LAMB3):c.1876delinsAAATT (p.Asp626fs)
|
|
|
NM_000228.3(LAMB3):c.202A>T (p.Lys68Ter)
|
rs2076427827
|
|
NM_000228.3(LAMB3):c.2089_2100delinsA (p.Gln697fs)
|
|
|
NM_000228.3(LAMB3):c.2166C>A (p.Tyr722Ter)
|
|
|
NM_000228.3(LAMB3):c.222_223del (p.His75fs)
|
|
|
NM_000228.3(LAMB3):c.2257_2258insGCCACAAGCT (p.Val753fs)
|
|
|
NM_000228.3(LAMB3):c.2327C>A (p.Ser776Ter)
|
|
|
NM_000228.3(LAMB3):c.239_240del (p.His80fs)
|
|
|
NM_000228.3(LAMB3):c.2421_2422del (p.Gln808fs)
|
|
|
NM_000228.3(LAMB3):c.2482del (p.Ala828fs)
|
|
|
NM_000228.3(LAMB3):c.2592dup (p.Ser865fs)
|
|
|
NM_000228.3(LAMB3):c.2677del (p.Gln893fs)
|
|
|
NM_000228.3(LAMB3):c.2706dup (p.Asp903fs)
|
|
|
NM_000228.3(LAMB3):c.2773_2774del (p.Ala926fs)
|
|
|
NM_000228.3(LAMB3):c.2800del (p.Glu934fs)
|
|
|
NM_000228.3(LAMB3):c.2992C>T (p.Gln998Ter)
|
rs1666039804
|
|
NM_000228.3(LAMB3):c.3034del (p.Gln1012fs)
|
|
|
NM_000228.3(LAMB3):c.3055C>T (p.Gln1019Ter)
|
rs1666017894
|
|
NM_000228.3(LAMB3):c.3130G>T (p.Glu1044Ter)
|
rs1666014535
|
|
NM_000228.3(LAMB3):c.3226G>T (p.Glu1076Ter)
|
|
|
NM_000228.3(LAMB3):c.378del (p.Met127fs)
|
|
|
NM_000228.3(LAMB3):c.385del (p.Ala129fs)
|
|
|
NM_000228.3(LAMB3):c.421A>T (p.Lys141Ter)
|
|
|
NM_000228.3(LAMB3):c.444C>G (p.Tyr148Ter)
|
|
|
NM_000228.3(LAMB3):c.446_447delinsCAAAGGAAGA (p.Leu149fs)
|
|
|
NM_000228.3(LAMB3):c.459C>A (p.Cys153Ter)
|
rs565416040
|
|
NM_000228.3(LAMB3):c.497_498delinsT (p.Gln166fs)
|
|
|
NM_000228.3(LAMB3):c.519C>A (p.Cys173Ter)
|
rs1666819553
|
|
NM_000228.3(LAMB3):c.528_529delinsT (p.Pro177fs)
|
|
|
NM_000228.3(LAMB3):c.714C>A (p.Tyr238Ter)
|
rs1666736220
|
|
NM_000228.3(LAMB3):c.758_759del (p.His253fs)
|
|
|
NM_000228.3(LAMB3):c.76del (p.Cys26fs)
|
|
|
NM_000228.3(LAMB3):c.784A>T (p.Lys262Ter)
|
rs1666731883
|
|
NM_000228.3(LAMB3):c.81T>A (p.Tyr27Ter)
|
|
|
NM_000228.3(LAMB3):c.852_853insCCTAGTA (p.Thr285fs)
|
|
|
NM_000228.3(LAMB3):c.940C>T (p.Gln314Ter)
|
rs1666646272
|
|
NM_000228.3(LAMB3):c.948C>A (p.Cys316Ter)
|
rs779681550
|
|
NM_000228.3(LAMB3):c.975T>A (p.Cys325Ter)
|
rs1666615300
|
|
NM_000228.3(LAMB3):c.981del (p.Phe327fs)
|
|
|
NM_000314.8(PTEN):c.-1_22del (p.Met1fs)
|
|
|
NM_000314.8(PTEN):c.100G>C (p.Ala34Pro)
|
rs1589617199
|
|
NM_000314.8(PTEN):c.1021T>G (p.Phe341Val)
|
rs1554825652
|
|
NM_000314.8(PTEN):c.1026+1G>A
|
rs786201041
|
|
NM_000314.8(PTEN):c.1026+1G>T
|
rs786201041
|
|
NM_000314.8(PTEN):c.1026+1_1026+2delinsTC
|
|
|
NM_000314.8(PTEN):c.1026+2T>A
|
|
|
NM_000314.8(PTEN):c.1026+2T>C
|
|
|
NM_000314.8(PTEN):c.1026+2T>G
|
rs1114167624
|
|
NM_000314.8(PTEN):c.1026+2_1026+19delinsG
|
|
|
NM_000314.8(PTEN):c.1027-1G>A
|
rs1057517809
|
|
NM_000314.8(PTEN):c.1027-1G>C
|
rs1057517809
|
|
NM_000314.8(PTEN):c.1027-1G>T
|
|
|
NM_000314.8(PTEN):c.1027-29_1029del
|
|
|
NM_000314.8(PTEN):c.1027-2A>G
|
rs1085308041
|
|
NM_000314.8(PTEN):c.1027-2A>T
|
rs1085308041
|
|
NM_000314.8(PTEN):c.1027-4_1027-2delinsGTC
|
|
|
NM_000314.8(PTEN):c.103A>G (p.Met35Val)
|
rs876659443
|
|
NM_000314.8(PTEN):c.104T>C (p.Met35Thr)
|
rs121909225
|
|
NM_000314.8(PTEN):c.104T>G (p.Met35Arg)
|
rs121909225
|
|
NM_000314.8(PTEN):c.105_106delinsTC (p.Met35_Gly36delinsIleArg)
|
|
|
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg)
|
rs786204854
|
|
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu)
|
rs1554893792
|
|
NM_000314.8(PTEN):c.126_164+5del
|
|
|
NM_000314.8(PTEN):c.144C>A (p.Asn48Lys)
|
rs762518389
|
|
NM_000314.8(PTEN):c.144C>G (p.Asn48Lys)
|
rs762518389
|
|
NM_000314.8(PTEN):c.154_164+1delinsAATATTGTTAATAA
|
|
|
NM_000314.8(PTEN):c.165-17_165del
|
rs1554897240
|
|
NM_000314.8(PTEN):c.165-36_195del
|
|
|
NM_000314.8(PTEN):c.182A>G (p.His61Arg)
|
rs398123316
|
|
NM_000314.8(PTEN):c.187_209+4del
|
|
|
NM_000314.8(PTEN):c.194_209+28del
|
|
|
NM_000314.8(PTEN):c.1A>G (p.Met1Val)
|
rs1554890324
|
|
NM_000314.8(PTEN):c.1A>T (p.Met1Leu)
|
|
|
NM_000314.8(PTEN):c.202T>A (p.Tyr68Asn)
|
rs398123317
|
|
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)
|
rs398123317
|
|
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys)
|
rs876660634
|
|
NM_000314.8(PTEN):c.209+2T>C
|
rs878853937
|
|
NM_000314.8(PTEN):c.210-1G>C
|
rs1114167621
|
|
NM_000314.8(PTEN):c.210-27_223delinsATCTTATTAACTTATTATAACTTATTATGACTTATTATAACTT
|
|
|
NM_000314.8(PTEN):c.210-2A>C
|
rs1564828914
|
|
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr)
|
rs1554897856
|
|
NM_000314.8(PTEN):c.253+5G>T
|
rs1554897889
|
|
NM_000314.8(PTEN):c.254-19_326del
|
|
|
NM_000314.8(PTEN):c.271_279del (p.Glu91_His93del)
|
|
|
NM_000314.8(PTEN):c.276C>G (p.Asp92Glu)
|
rs779530981
|
|
NM_000314.8(PTEN):c.277C>T (p.His93Tyr)
|
rs786204927
|
|
NM_000314.8(PTEN):c.278A>G (p.His93Arg)
|
rs121909238
|
|
NM_000314.8(PTEN):c.287C>A (p.Pro96Gln)
|
rs1554898074
|
|
NM_000314.8(PTEN):c.287C>G (p.Pro96Arg)
|
rs1554898074
|
|
NM_000314.8(PTEN):c.2T>G (p.Met1Arg)
|
|
|
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)
|
rs1339631701
|
|
NM_000314.8(PTEN):c.319G>T (p.Asp107Tyr)
|
rs57374291
|
|
NM_000314.8(PTEN):c.362C>A (p.Ala121Glu)
|
|
|
NM_000314.8(PTEN):c.365T>G (p.Ile122Ser)
|
rs1589646321
|
|
NM_000314.8(PTEN):c.367C>T (p.His123Tyr)
|
rs786204931
|
|
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg)
|
rs121909223
|
|
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr)
|
rs876660535
|
|
NM_000314.8(PTEN):c.372T>G (p.Cys124Trp)
|
|
|
NM_000314.8(PTEN):c.373A>G (p.Lys125Glu)
|
rs1554898127
|
|
NM_000314.8(PTEN):c.377C>A (p.Ala126Asp)
|
|
|
NM_000314.8(PTEN):c.379G>A (p.Gly127Arg)
|
rs587781255
|
|
NM_000314.8(PTEN):c.379G>C (p.Gly127Arg)
|
|
|
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg)
|
rs786204929
|
|
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu)
|
rs121909218
|
|
NM_000314.8(PTEN):c.386G>T (p.Gly129Val)
|
rs121909218
|
|
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly)
|
rs121909224
|
|
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)
|
rs121909229
|
|
NM_000314.8(PTEN):c.394G>A (p.Gly132Ser)
|
rs1859977029
|
|
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)
|
rs121909241
|
|
NM_000314.8(PTEN):c.395G>T (p.Gly132Val)
|
rs121909241
|
|
NM_000314.8(PTEN):c.401T>C (p.Met134Thr)
|
rs1085308046
|
|
NM_000314.8(PTEN):c.403A>G (p.Ile135Val)
|
rs587782360
|
|
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg)
|
rs786201044
|
|
NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr)
|
rs786204859
|
|
NM_000314.8(PTEN):c.424C>T (p.Arg142Trp)
|
rs746152219
|
|
NM_000314.8(PTEN):c.461_492+7del
|
|
|
NM_000314.8(PTEN):c.463T>C (p.Tyr155His)
|
rs398123325
|
|
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)
|
rs1060500126
|
|
NM_000314.8(PTEN):c.492+1G>A
|
rs1554898242
|
|
NM_000314.8(PTEN):c.492+1G>T
|
rs1554898242
|
|
NM_000314.8(PTEN):c.492+2del
|
rs1060500124
|
|
NM_000314.8(PTEN):c.492_492+1delinsA
|
|
|
NM_000314.8(PTEN):c.493-1G>C
|
rs786204862
|
|
NM_000314.8(PTEN):c.493-1G>T
|
rs786204862
|
|
NM_000314.8(PTEN):c.493-2A>C
|
rs587781784
|
|
NM_000314.8(PTEN):c.493-2A>G
|
rs587781784
|
|
NM_000314.8(PTEN):c.493G>A (p.Gly165Arg)
|
rs587782603
|
|
NM_000314.8(PTEN):c.493G>C (p.Gly165Arg)
|
rs587782603
|
|
NM_000314.8(PTEN):c.509G>A (p.Ser170Asn)
|
rs876660507
|
|
NM_000314.8(PTEN):c.50_79+23del
|
|
|
NM_000314.8(PTEN):c.542T>C (p.Leu181Pro)
|
rs1589659492
|
|
NM_000314.8(PTEN):c.635-1G>A
|
rs876661024
|
|
NM_000314.8(PTEN):c.635-1G>C
|
rs876661024
|
|
NM_000314.8(PTEN):c.635-1G>T
|
rs876661024
|
|
NM_000314.8(PTEN):c.635-2A>G
|
rs1564566706
|
|
NM_000314.8(PTEN):c.635-32_643del
|
|
|
NM_000314.8(PTEN):c.635-33_653del
|
|
|
NM_000314.8(PTEN):c.635-3C>G
|
rs1085308056
|
|
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)
|
rs797044910
|
|
NM_000314.8(PTEN):c.721_786del (p.Phe241_Asn262del)
|
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly)
|
rs121909239
|
|
NM_000314.8(PTEN):c.801+1G>A
|
rs786204873
|
|
NM_000314.8(PTEN):c.801+1del
|
rs1060500110
|
|
NM_000314.8(PTEN):c.802-1G>A
|
rs1257124719
|
|
NM_000314.8(PTEN):c.802-2_816del
|
|
|
NM_000314.8(PTEN):c.802-37_815del
|
|
|
NM_000314.8(PTEN):c.802-54_883del
|
|
|
NM_000314.8(PTEN):c.802-8_839del
|
|
|
NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser)
|
rs886041877
|
|
NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys)
|
rs886041877
|
|
NM_000314.8(PTEN):c.830C>G (p.Thr277Arg)
|
rs398123329
|
|
NM_000314.8(PTEN):c.959T>C (p.Leu320Ser)
|
rs1114167667
|
|
NM_000314.8(PTEN):c.972_977del (p.Leu325_Asp326del)
|
rs1860630372
|
|
NM_000353.3(TAT):c.1015del (p.Tyr339fs)
|
|
|
NM_000353.3(TAT):c.1037_1038del (p.Leu346fs)
|
|
|
NM_000353.3(TAT):c.18_19del (p.Gln7fs)
|
|
|
NM_000353.3(TAT):c.274_275del (p.Glu92fs)
|
|
|
NM_000353.3(TAT):c.283C>T (p.Gln95Ter)
|
|
|
NM_000353.3(TAT):c.313A>T (p.Lys105Ter)
|
|
|
NM_000353.3(TAT):c.632_634delinsA (p.Cys211fs)
|
|
|
NM_000353.3(TAT):c.680_692del (p.Lys227fs)
|
|
|
NM_000353.3(TAT):c.8dup (p.Tyr4fs)
|
|
|
NM_000359.3(TGM1):c.1038C>A (p.Tyr346Ter)
|
|
|
NM_000359.3(TGM1):c.1090_1091del (p.Ser364fs)
|
|
|
NM_000359.3(TGM1):c.1129del (p.Cys377fs)
|
|
|
NM_000359.3(TGM1):c.1175del (p.Gly392fs)
|
|
|
NM_000359.3(TGM1):c.1281_1282del (p.Asn428fs)
|
|
|
NM_000359.3(TGM1):c.1329_1330del (p.Met443fs)
|
|
|
NM_000359.3(TGM1):c.1429_1431delinsCT (p.Val477fs)
|
|
|
NM_000359.3(TGM1):c.1489delinsAC (p.Glu497fs)
|
|
|
NM_000359.3(TGM1):c.1581_1591del (p.Val528fs)
|
|
|
NM_000359.3(TGM1):c.1625_1626insTC (p.Leu543fs)
|
|
|
NM_000359.3(TGM1):c.1642G>T (p.Glu548Ter)
|
|
|
NM_000359.3(TGM1):c.1670del (p.Val557fs)
|
|
|
NM_000359.3(TGM1):c.1714_1715insTCAGATCCTGCCCCATC (p.Asn572fs)
|
|
|
NM_000359.3(TGM1):c.1899del (p.Lys634fs)
|
|
|
NM_000359.3(TGM1):c.335_336del (p.Val112fs)
|
|
|
NM_000359.3(TGM1):c.496G>T (p.Glu166Ter)
|
|
|
NM_000359.3(TGM1):c.527_528del (p.Gly176fs)
|
|
|
NM_000359.3(TGM1):c.645del (p.Ile216fs)
|
|
|
NM_000359.3(TGM1):c.771C>A (p.Tyr257Ter)
|
|
|
NM_005562.3(LAMC2):c.1003G>T (p.Glu335Ter)
|
|
|
NM_005562.3(LAMC2):c.1120_1121insACTGTCTCTTATA (p.Ala374fs)
|
|
|
NM_005562.3(LAMC2):c.1179C>A (p.Cys393Ter)
|
rs1659640091
|
|
NM_005562.3(LAMC2):c.1326_1327insAGAATGTCAAA (p.Ala443fs)
|
|
|
NM_005562.3(LAMC2):c.1347del (p.Tyr450fs)
|
|
|
NM_005562.3(LAMC2):c.1412C>G (p.Ser471Ter)
|
rs1659667947
|
|
NM_005562.3(LAMC2):c.1469_1470insACTGTCTCTTATACACA (p.Ala491fs)
|
|
|
NM_005562.3(LAMC2):c.1552C>T (p.Gln518Ter)
|
rs1659698585
|
|
NM_005562.3(LAMC2):c.1720delinsTT (p.Asn574fs)
|
|
|
NM_005562.3(LAMC2):c.176del (p.Asn59fs)
|
|
|
NM_005562.3(LAMC2):c.1786G>T (p.Gly596Ter)
|
rs1659784333
|
|
NM_005562.3(LAMC2):c.1796del (p.Gly599fs)
|
|
|
NM_005562.3(LAMC2):c.1907del (p.Lys636fs)
|
|
|
NM_005562.3(LAMC2):c.219C>A (p.Tyr73Ter)
|
rs1658950895
|
|
NM_005562.3(LAMC2):c.2213dup (p.Asn739fs)
|
|
|
NM_005562.3(LAMC2):c.2234C>G (p.Ser745Ter)
|
|
|
NM_005562.3(LAMC2):c.2362dup (p.Gln788fs)
|
|
|
NM_005562.3(LAMC2):c.2372C>A (p.Ser791Ter)
|
|
|
NM_005562.3(LAMC2):c.2470A>T (p.Lys824Ter)
|
|
|
NM_005562.3(LAMC2):c.252C>A (p.Cys84Ter)
|
|
|
NM_005562.3(LAMC2):c.2578G>T (p.Gly860Ter)
|
|
|
NM_005562.3(LAMC2):c.2631dup (p.Ala878fs)
|
|
|
NM_005562.3(LAMC2):c.2706G>A (p.Trp902Ter)
|
|
|
NM_005562.3(LAMC2):c.2713G>T (p.Glu905Ter)
|
rs1660001380
|
|
NM_005562.3(LAMC2):c.2719C>T (p.Gln907Ter)
|
rs1660001741
|
|
NM_005562.3(LAMC2):c.2738del (p.Gly913fs)
|
|
|
NM_005562.3(LAMC2):c.2748_2752delinsAGAA (p.Arg917fs)
|
|
|
NM_005562.3(LAMC2):c.2755A>T (p.Lys919Ter)
|
|
|
NM_005562.3(LAMC2):c.2764C>T (p.Gln922Ter)
|
rs1660027790
|
|
NM_005562.3(LAMC2):c.2797A>T (p.Arg933Ter)
|
rs1660029324
|
|
NM_005562.3(LAMC2):c.2838T>A (p.Tyr946Ter)
|
rs1173478186
|
|
NM_005562.3(LAMC2):c.2838T>G (p.Tyr946Ter)
|
rs1173478186
|
|
NM_005562.3(LAMC2):c.288T>A (p.Cys96Ter)
|
rs1659222371
|
|
NM_005562.3(LAMC2):c.2898del (p.Ala967fs)
|
|
|
NM_005562.3(LAMC2):c.2944A>T (p.Lys982Ter)
|
|
|
NM_005562.3(LAMC2):c.2965A>T (p.Lys989Ter)
|
|
|
NM_005562.3(LAMC2):c.388C>T (p.Gln130Ter)
|
rs1659228652
|
|
NM_005562.3(LAMC2):c.651_654del (p.Trp218fs)
|
|
|
NM_005562.3(LAMC2):c.825_826insCTGTCTCTTATCATCT (p.Asp276delinsLeuSerLeuIleIleTer)
|
|
|
NM_005562.3(LAMC2):c.851_852insTGCTGAGTGT (p.His285fs)
|
|
|
NM_005562.3(LAMC2):c.927T>A (p.Cys309Ter)
|
|
|
NM_032383.5(HPS3):c.1150_1153del (p.His384fs)
|
|
|
NM_032383.5(HPS3):c.1275T>A (p.Cys425Ter)
|
|
|
NM_032383.5(HPS3):c.1627G>T (p.Glu543Ter)
|
|
|
NM_032383.5(HPS3):c.1685_1686delinsT (p.Tyr562fs)
|
|
|
NM_032383.5(HPS3):c.1814del (p.Gly605fs)
|
|
|
NM_032383.5(HPS3):c.2038A>T (p.Lys680Ter)
|
|
|
NM_032383.5(HPS3):c.2080A>T (p.Arg694Ter)
|
|
|
NM_032383.5(HPS3):c.2086_2093del (p.Glu696fs)
|
|
|
NM_032383.5(HPS3):c.2209C>T (p.Gln737Ter)
|
|
|
NM_032383.5(HPS3):c.2287_2289delinsA (p.Phe763fs)
|
|
|
NM_032383.5(HPS3):c.2380del (p.Val794fs)
|
|
|
NM_032383.5(HPS3):c.2491_2493delinsA (p.Cys831fs)
|
|
|
NM_032383.5(HPS3):c.2510_2511insACTGTCTC (p.Tyr838fs)
|
|
|
NM_032383.5(HPS3):c.2525_2526del (p.His842fs)
|
|
|
NM_032383.5(HPS3):c.2543_2552del (p.Asp848fs)
|
|
|
NM_032383.5(HPS3):c.2737G>T (p.Glu913Ter)
|
|
|
NM_032383.5(HPS3):c.288_289del (p.Asn96fs)
|
|
|
NM_032383.5(HPS3):c.325_328del (p.Ile109fs)
|
|
|
NM_032383.5(HPS3):c.356_357del (p.Lys119fs)
|
|
|
NM_032383.5(HPS3):c.423T>A (p.Cys141Ter)
|
|
|
NM_032383.5(HPS3):c.505delinsAAGCAT (p.Glu169fs)
|
|
|
NM_032383.5(HPS3):c.513_516del (p.Leu172fs)
|
|
|
NM_032383.5(HPS3):c.601_602insACTGTCTCTTATACACATC (p.Met201fs)
|
|
|
NM_032383.5(HPS3):c.617_618insTCAGCAG (p.Leu207fs)
|
|
|
NM_032383.5(HPS3):c.791_792insC (p.Lys264fs)
|
|
|
NM_032383.5(HPS3):c.795_796del (p.Ser265fs)
|
|
|
NM_032383.5(HPS3):c.795_796delinsA (p.Ser265fs)
|
|
|
NM_032383.5(HPS3):c.809T>A (p.Leu270Ter)
|
|
|
NM_032383.5(HPS3):c.823G>T (p.Glu275Ter)
|
|
|
NM_032383.5(HPS3):c.855del (p.Lys285fs)
|
|
|
NM_032383.5(HPS3):c.931A>T (p.Lys311Ter)
|
|
|
NM_032383.5(HPS3):c.950_951del (p.Leu317fs)
|
|
|
NM_032383.5(HPS3):c.956_957del (p.Pro319fs)
|
|
|
NM_032383.5(HPS3):c.964del (p.Gln322fs)
|
|
|
NM_147127.5(EVC2):c.1012C>T (p.Gln338Ter)
|
|
|
NM_147127.5(EVC2):c.1186G>T (p.Glu396Ter)
|
|
|
NM_147127.5(EVC2):c.1261_1262insTATACACATCTGTGATC (p.Ser421fs)
|
|
|
NM_147127.5(EVC2):c.1292_1296del (p.Val431fs)
|
|
|
NM_147127.5(EVC2):c.1313T>A (p.Leu438Ter)
|
|
|
NM_147127.5(EVC2):c.1313del (p.Leu438fs)
|
|
|
NM_147127.5(EVC2):c.1463del (p.Gly488fs)
|
|
|
NM_147127.5(EVC2):c.1511del (p.Gly504fs)
|
|
|
NM_147127.5(EVC2):c.1551_1552insTTTCT (p.Gln518fs)
|
|
|
NM_147127.5(EVC2):c.1552delinsGAGACAGT (p.Gln518fs)
|
|
|
NM_147127.5(EVC2):c.1680_1681del (p.Lys560fs)
|
|
|
NM_147127.5(EVC2):c.1852delinsTCTTT (p.Ala618fs)
|
|
|
NM_147127.5(EVC2):c.1872_1873delinsA (p.Gln625fs)
|
|
|
NM_147127.5(EVC2):c.1896C>G (p.Tyr632Ter)
|
|
|
NM_147127.5(EVC2):c.1997dup (p.Leu667fs)
|
|
|
NM_147127.5(EVC2):c.2005C>T (p.Gln669Ter)
|
|
|
NM_147127.5(EVC2):c.2053del (p.Glu685fs)
|
|
|
NM_147127.5(EVC2):c.2122_2125delinsAGA (p.His708fs)
|
|
|
NM_147127.5(EVC2):c.2219delinsTTTCT (p.Thr740fs)
|
|
|
NM_147127.5(EVC2):c.2394_2395del (p.Asp799fs)
|
|
|
NM_147127.5(EVC2):c.257_260del (p.Val86fs)
|
|
|
NM_147127.5(EVC2):c.2737A>T (p.Lys913Ter)
|
|
|
NM_147127.5(EVC2):c.2764A>T (p.Lys922Ter)
|
|
|
NM_147127.5(EVC2):c.2842_2848del (p.Leu948fs)
|
|
|
NM_147127.5(EVC2):c.2851G>T (p.Glu951Ter)
|
|
|
NM_147127.5(EVC2):c.2855_2858delinsCACTCA (p.Arg952fs)
|
|
|
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
|
|
|
NM_147127.5(EVC2):c.2878G>T (p.Glu960Ter)
|
|
|
NM_147127.5(EVC2):c.3043G>T (p.Glu1015Ter)
|
|
|
NM_147127.5(EVC2):c.3169_3182del (p.Ile1057fs)
|
|
|
NM_147127.5(EVC2):c.316A>T (p.Lys106Ter)
|
|
|
NM_147127.5(EVC2):c.3279_3282del (p.Glu1094fs)
|
|
|
NM_147127.5(EVC2):c.3411del (p.Thr1138fs)
|
|
|
NM_147127.5(EVC2):c.3459_3460del (p.Gln1154fs)
|
|
|
NM_147127.5(EVC2):c.3535C>T (p.Gln1179Ter)
|
|
|
NM_147127.5(EVC2):c.437_438del (p.Ile146fs)
|
|
|
NM_147127.5(EVC2):c.466del (p.Arg156fs)
|
|
|
NM_147127.5(EVC2):c.636_637delinsT (p.Thr213fs)
|
|
|
NM_147127.5(EVC2):c.711_717del (p.Asp238fs)
|
|
|
NM_147127.5(EVC2):c.750_751delinsA (p.Gly251fs)
|
|
|
NM_147127.5(EVC2):c.775_781del (p.Leu259fs)
|
|
|
NM_147127.5(EVC2):c.916delinsGACGA (p.Phe306fs)
|
|
|
NM_147127.5(EVC2):c.961del (p.Val321fs)
|
|
|
NM_153717.3(EVC):c.1068_1069del (p.Leu357fs)
|
|
|
NM_153717.3(EVC):c.1081_1083delinsA (p.Gln361fs)
|
|
|
NM_153717.3(EVC):c.1128_1132del (p.His377fs)
|
|
|
NM_153717.3(EVC):c.1148_1152del (p.Glu383fs)
|
|
|
NM_153717.3(EVC):c.1158_1159insACTGTCTCTTATA (p.Leu387fs)
|
|
|
NM_153717.3(EVC):c.1212_1216del (p.Glu405fs)
|
|
|
NM_153717.3(EVC):c.1284_1287del (p.Phe429fs)
|
|
|
NM_153717.3(EVC):c.1290G>A (p.Trp430Ter)
|
|
|
NM_153717.3(EVC):c.1304_1307dup (p.Phe436fs)
|
|
|
NM_153717.3(EVC):c.1361_1362delinsT (p.His454fs)
|
|
|
NM_153717.3(EVC):c.13_14insCTCA (p.Gly5fs)
|
|
|
NM_153717.3(EVC):c.1409del (p.Gln470fs)
|
|
|
NM_153717.3(EVC):c.1572del (p.Phe525fs)
|
|
|
NM_153717.3(EVC):c.1620_1621del (p.Gln541fs)
|
|
|
NM_153717.3(EVC):c.1765del (p.Gln589fs)
|
|
|
NM_153717.3(EVC):c.1803del (p.Ser602fs)
|
|
|
NM_153717.3(EVC):c.1880_1881insGA (p.Glu628fs)
|
|
|
NM_153717.3(EVC):c.2026G>T (p.Glu676Ter)
|
|
|
NM_153717.3(EVC):c.2041G>T (p.Glu681Ter)
|
|
|
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
|
|
|
NM_153717.3(EVC):c.228_234del (p.Ser77fs)
|
|
|
NM_153717.3(EVC):c.2436_2437del (p.Lys813fs)
|
|
|
NM_153717.3(EVC):c.26_36del (p.Lys9fs)
|
|
|
NM_153717.3(EVC):c.26del (p.Lys9fs)
|
|
|
NM_153717.3(EVC):c.29_30insA (p.Ser10fs)
|
|
|
NM_153717.3(EVC):c.37_40del (p.Arg13fs)
|
|
|
NM_153717.3(EVC):c.37del (p.Arg13fs)
|
|
|
NM_153717.3(EVC):c.39_40del (p.Leu14fs)
|
|
|
NM_153717.3(EVC):c.3_4insTATAAGAGACA (p.Ala2fs)
|
|
|
NM_153717.3(EVC):c.40_41insACTGTCTCTTA (p.Leu14fs)
|
|
|
NM_153717.3(EVC):c.43_44insGTATAAGAGACAG (p.Leu15fs)
|
|
|
NM_153717.3(EVC):c.48_55del (p.Gly17fs)
|
|
|
NM_153717.3(EVC):c.54_61del (p.Asp19fs)
|
|
|
NM_153717.3(EVC):c.59_60insA (p.Leu21fs)
|
|
|
NM_153717.3(EVC):c.60_61insACTGTCTCTTATA (p.Leu21fs)
|
|
|
NM_153717.3(EVC):c.636T>A (p.Cys212Ter)
|
|
|
NM_153717.3(EVC):c.64_79del (p.Arg22fs)
|
|
|
NM_153717.3(EVC):c.650_651del (p.His217fs)
|
|
|
NM_153717.3(EVC):c.708del (p.Phe236fs)
|
|
|
NM_153717.3(EVC):c.787_788delinsA (p.Ser263fs)
|
|
|
NM_153717.3(EVC):c.840_846del (p.Ser281fs)
|
|
|
NM_153717.3(EVC):c.857C>A (p.Ser286Ter)
|
|
|
NM_153717.3(EVC):c.8_9insTGCTGCTGAGTGT (p.Gly4fs)
|
|
|
NM_153717.3(EVC):c.910del (p.Arg304fs)
|
|
|
NM_153717.3(EVC):c.985_986insATCTT (p.Val329fs)
|
|
|
NM_153717.3(EVC):c.999_1000insAACATTC (p.Cys334fs)
|
|
|
NM_198129.4(LAMA3):c.8177+2T>G
|
rs786204732
|
|