|
NM_000041.4(APOE):c.388T>C (p.Cys130Arg)
|
rs429358
|
0.16059
|
|
NM_002016.2(FLG):c.5717C>A (p.Ser1906Ter)
|
rs141784184
|
0.00584
|
|
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
|
NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly)
|
rs549394447
|
0.00331
|
|
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
|
0.00247
|
|
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter)
|
rs149484917
|
0.00246
|
|
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)
|
rs115746363
|
0.00243
|
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
|
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
|
rs138241615
|
0.00168
|
|
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter)
|
rs150597413
|
0.00144
|
|
NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln)
|
rs199694087
|
0.00128
|
|
NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
|
NM_000251.3(MSH2):c.942+2T>A
|
rs587779195
|
0.00101
|
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
|
NM_001354587.1(ANKRD36):c.2479-1G>A
|
rs200852589
|
0.00076
|
|
NM_004100.5(EYA4):c.866C>T (p.Thr289Met)
|
rs41286200
|
0.00067
|
|
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)
|
rs137852949
|
0.00066
|
|
NM_000249.4(MLH1):c.1039-7_1040del
|
rs1559551447
|
0.00061
|
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
|
NM_138691.3(TMC1):c.1763+3A>G
|
rs370898981
|
0.00056
|
|
NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter)
|
rs200002200
|
0.00054
|
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
|
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter)
|
rs146466242
|
0.00045
|
|
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg)
|
rs372509310
|
0.00043
|
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
|
NM_144672.4(OTOA):c.2120C>T (p.Ala707Val)
|
rs145160241
|
0.00038
|
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
|
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn)
|
rs545973022
|
0.00033
|
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
|
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)
|
rs148812376
|
0.00032
|
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
|
NM_004817.4(TJP2):c.2726C>T (p.Ala909Val)
|
rs146761713
|
0.00028
|
|
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
|
rs148044781
|
0.00026
|
|
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val)
|
rs370762269
|
0.00025
|
|
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)
|
rs137852959
|
0.00024
|
|
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)
|
rs202037973
|
0.00024
|
|
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)
|
rs370359511
|
0.00024
|
|
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)
|
rs201064551
|
0.00022
|
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
|
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter)
|
rs201812542
|
0.00022
|
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
|
NM_001371623.1(TCOF1):c.1130C>T (p.Pro377Leu)
|
rs189476787
|
0.00021
|
|
NM_002016.2(FLG):c.94G>T (p.Glu32Ter)
|
rs114733570
|
0.00021
|
|
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys)
|
rs112967046
|
0.00020
|
|
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu)
|
rs373862003
|
0.00019
|
|
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)
|
rs149095128
|
0.00018
|
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
|
NM_006767.4(LZTR1):c.264-13G>A
|
rs587777176
|
0.00017
|
|
NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His)
|
rs141764916
|
0.00016
|
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
|
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)
|
rs192378817
|
0.00016
|
|
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His)
|
rs35027371
|
0.00016
|
|
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)
|
rs200672755
|
0.00016
|
|
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)
|
rs747026964
|
0.00015
|
|
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val)
|
rs532329866
|
0.00015
|
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
|
NM_000250.2(MPO):c.604G>T (p.Glu202Ter)
|
rs778013714
|
0.00014
|
|
NM_000393.5(COL5A2):c.322+1G>C
|
rs770598613
|
0.00014
|
|
NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter)
|
rs147145234
|
0.00014
|
|
NM_004004.6(GJB2):c.110T>C (p.Val37Ala)
|
rs141774369
|
0.00014
|
|
NM_002016.2(FLG):c.2362C>T (p.Arg788Ter)
|
rs183942200
|
0.00013
|
|
NM_182961.4(SYNE1):c.226-2dup
|
rs774388631
|
0.00013
|
|
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly)
|
rs776981958
|
0.00013
|
|
NM_000250.2(MPO):c.249-2A>G
|
rs762526880
|
0.00012
|
|
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)
|
rs767528365
|
0.00012
|
|
NM_001789.3(CDC25A):c.263C>T (p.Ser88Phe)
|
rs3731499
|
0.00012
|
|
NM_007215.4(POLG2):c.703A>G (p.Thr235Ala)
|
rs148941150
|
0.00011
|
|
NM_000093.5(COL5A1):c.4067C>T (p.Ala1356Val)
|
rs766796504
|
0.00010
|
|
NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter)
|
rs567795279
|
0.00010
|
|
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)
|
rs181860632
|
0.00010
|
|
NM_006005.3(WFS1):c.2603G>A (p.Arg868His)
|
rs56393026
|
0.00010
|
|
NM_198994.3(TGM6):c.1024C>T (p.Arg342Trp)
|
rs150566697
|
0.00010
|
|
NM_198994.3(TGM6):c.980A>G (p.Asp327Gly)
|
rs387907098
|
0.00010
|
|
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln)
|
rs191582628
|
0.00010
|
|
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala)
|
rs80338711
|
0.00009
|
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
|
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr)
|
rs886043191
|
0.00009
|
|
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)
|
rs369294972
|
0.00009
|
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
|
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)
|
rs756147087
|
0.00009
|
|
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
|
rs149914792
|
0.00008
|
|
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu)
|
rs764323652
|
0.00008
|
|
NM_001289104.2(PRKCSH):c.762+2T>C
|
rs112915100
|
0.00008
|
|
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser)
|
rs267606941
|
0.00008
|
|
NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp)
|
rs141156009
|
0.00008
|
|
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)
|
rs63750809
|
0.00007
|
|
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)
|
rs189150283
|
0.00007
|
|
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)
|
rs121908706
|
0.00007
|
|
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)
|
rs767106920
|
0.00006
|
|
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)
|
rs121434548
|
0.00006
|
|
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser)
|
rs371166254
|
0.00006
|
|
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)
|
rs199907548
|
0.00006
|
|
NM_000091.5(COL4A3):c.1459G>A (p.Gly487Ser)
|
rs745472969
|
0.00006
|
|
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)
|
rs149062442
|
0.00006
|
|
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
|
rs397516322
|
0.00006
|
|
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)
|
rs201539845
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
|
NM_000484.4(APP):c.2137G>A (p.Ala713Thr)
|
rs63750066
|
0.00006
|
|
NM_000501.4(ELN):c.1150+1G>A
|
rs727503030
|
0.00006
|
|
NM_001145809.2(MYH14):c.4297G>A (p.Glu1433Lys)
|
rs771755654
|
0.00006
|
|
NM_001267550.2(TTN):c.39895+1G>T
|
rs749931280
|
0.00006
|
|
NM_001267550.2(TTN):c.39974-11T>G
|
rs758597536
|
0.00006
|
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
|
NM_002335.4(LRP5):c.685C>T (p.Arg229Trp)
|
rs766589610
|
0.00006
|
|
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)
|
rs753416225
|
0.00006
|
|
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)
|
rs199883710
|
0.00006
|
|
NM_004086.3(COCH):c.1150C>T (p.Arg384Cys)
|
rs756541797
|
0.00006
|
|
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln)
|
rs200004048
|
0.00006
|
|
NM_005422.4(TECTA):c.1621G>A (p.Val541Met)
|
rs370652301
|
0.00006
|
|
NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys)
|
rs371911218
|
0.00006
|
|
NM_006005.3(WFS1):c.977C>T (p.Ala326Val)
|
rs369795224
|
0.00006
|
|
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)
|
rs550922200
|
0.00006
|
|
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)
|
rs587777180
|
0.00006
|
|
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys)
|
rs587777178
|
0.00006
|
|
NM_016239.4(MYO15A):c.8080C>A (p.Arg2694Ser)
|
rs371730430
|
0.00006
|
|
NM_022124.6(CDH23):c.6050-9G>A
|
rs367928692
|
0.00006
|
|
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)
|
rs730881645
|
0.00006
|
|
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)
|
rs121908073
|
0.00006
|
|
NM_138691.3(TMC1):c.1114G>A (p.Val372Met)
|
rs367924428
|
0.00006
|
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
|
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)
|
rs200432861
|
0.00006
|
|
NM_198253.3(TERT):c.-57A>C
|
rs878855297
|
0.00006
|
|
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala)
|
rs548019779
|
0.00005
|
|
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
|
rs111033486
|
0.00005
|
|
NM_001267550.2(TTN):c.1800+1G>A
|
rs397517497
|
0.00005
|
|
NM_001267550.2(TTN):c.32555-2A>C
|
rs781581062
|
0.00005
|
|
NM_001267550.2(TTN):c.36310G>T (p.Glu12104Ter)
|
rs1455879402
|
0.00005
|
|
NM_001349338.3(FOXP1):c.179A>G (p.Gln60Arg)
|
rs374060287
|
0.00005
|
|
NM_001854.4(COL11A1):c.1245+1G>A
|
rs766849561
|
0.00005
|
|
NM_002016.2(FLG):c.7487del (p.Thr2496fs)
|
rs774362740
|
0.00005
|
|
NM_002693.3(POLG):c.3104+1G>A
|
rs138917386
|
0.00005
|
|
NM_006005.3(WFS1):c.1673G>A (p.Arg558His)
|
rs774265764
|
0.00005
|
|
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys)
|
rs201270568
|
0.00005
|
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
|
NM_015713.5(RRM2B):c.846G>C (p.Met282Ile)
|
rs182614164
|
0.00005
|
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
|
NC_000016.10:g.67660342del
|
rs753666055
|
0.00004
|
|
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)
|
rs199806879
|
0.00004
|
|
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)
|
rs190793093
|
0.00004
|
|
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)
|
rs886042478
|
0.00004
|
|
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)
|
rs528417986
|
0.00004
|
|
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter)
|
rs377215024
|
0.00004
|
|
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)
|
rs184730597
|
0.00004
|
|
NM_000091.5(COL4A3):c.3956G>A (p.Gly1319Glu)
|
rs1178734829
|
0.00004
|
|
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter)
|
rs764046610
|
0.00004
|
|
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser)
|
rs778181932
|
0.00004
|
|
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)
|
rs111033214
|
0.00004
|
|
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)
|
rs768445391
|
0.00004
|
|
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)
|
rs111033220
|
0.00004
|
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
|
NM_000546.6(TP53):c.91G>A (p.Val31Ile)
|
rs201753350
|
0.00004
|
|
NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu)
|
rs749326176
|
0.00004
|
|
NM_001035.3(RYR2):c.7201C>T (p.Arg2401Cys)
|
rs1321283106
|
0.00004
|
|
NM_001191057.4(PDE1C):c.778G>T (p.Ala260Ser)
|
rs775633137
|
0.00004
|
|
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)
|
rs778224699
|
0.00004
|
|
NM_001267550.2(TTN):c.34930+2T>C
|
rs749252830
|
0.00004
|
|
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter)
|
rs1384922524
|
0.00004
|
|
NM_001267550.2(TTN):c.40558+1G>A
|
rs368219776
|
0.00004
|
|
NM_001374828.1(ARID1B):c.5851G>A (p.Glu1951Lys)
|
rs1451259945
|
0.00004
|
|
NM_002016.2(FLG):c.2218C>T (p.Arg740Ter)
|
rs777181377
|
0.00004
|
|
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter)
|
rs372754256
|
0.00004
|
|
NM_002016.2(FLG):c.8053C>T (p.Arg2685Ter)
|
rs754727774
|
0.00004
|
|
NM_002693.3(POLG):c.2566G>A (p.Glu856Lys)
|
rs1032930719
|
0.00004
|
|
NM_002739.5(PRKCG):c.1381G>A (p.Ala461Thr)
|
rs749266717
|
0.00004
|
|
NM_002878.4(RAD51D):c.493C>T (p.Arg165Trp)
|
rs544654228
|
0.00004
|
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
|
NM_003384.3(VRK1):c.683C>T (p.Thr228Met)
|
rs146113610
|
0.00004
|
|
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter)
|
rs779070661
|
0.00004
|
|
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)
|
rs767178508
|
0.00004
|
|
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys)
|
rs71532863
|
0.00004
|
|
NM_006005.3(WFS1):c.2293del (p.Cys765fs)
|
rs1381011685
|
0.00004
|
|
NM_006208.3(ENPP1):c.2376T>A (p.Asn792Lys)
|
rs137853273
|
0.00004
|
|
NM_006363.6(SEC23B):c.53G>A (p.Arg18His)
|
rs905074313
|
0.00004
|
|
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)
|
rs121918225
|
0.00004
|
|
NM_006767.4(LZTR1):c.1943-1G>A
|
rs1189015572
|
0.00004
|
|
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met)
|
rs199586863
|
0.00004
|
|
NM_015338.6(ASXL1):c.1249C>T (p.Arg417Ter)
|
rs375215583
|
0.00004
|
|
NM_024079.5(ALG8):c.685C>T (p.Arg229Ter)
|
rs533704173
|
0.00004
|
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
|
NM_058216.3(RAD51C):c.774del (p.Thr259fs)
|
rs754367349
|
0.00004
|
|
NM_133261.3(GIPC3):c.662C>T (p.Thr221Ile)
|
rs761543680
|
0.00004
|
|
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)
|
rs199422297
|
0.00004
|
|
NM_198253.3(TERT):c.2368G>A (p.Val790Ile)
|
rs371413388
|
0.00004
|
|
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro)
|
rs80359066
|
0.00003
|
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
|
NM_000070.3(CAPN3):c.1156C>T (p.Arg386Cys)
|
rs919442493
|
0.00003
|
|
NM_000070.3(CAPN3):c.143G>A (p.Ser48Asn)
|
rs767281996
|
0.00003
|
|
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)
|
rs557164942
|
0.00003
|
|
NM_000090.4(COL3A1):c.1509+2T>C
|
rs1553508039
|
0.00003
|
|
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
|
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val)
|
rs774849517
|
0.00003
|
|
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)
|
rs587782946
|
0.00003
|
|
NM_000138.5(FBN1):c.442+1G>A
|
rs868403743
|
0.00003
|
|
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)
|
rs146063839
|
0.00003
|
|
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
|
NM_000249.4(MLH1):c.116+5G>A
|
rs267607710
|
0.00003
|
|
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)
|
rs759263820
|
0.00003
|
|
NM_000260.4(MYO7A):c.397C>A (p.His133Asn)
|
rs111033403
|
0.00003
|
|
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
|
rs111033181
|
0.00003
|
|
NM_000278.5(PAX2):c.1058A>C (p.Gln353Pro)
|
rs201021899
|
0.00003
|
|
NM_000388.4(CASR):c.2303G>T (p.Gly768Val)
|
rs201858689
|
0.00003
|
|
NM_000393.5(COL5A2):c.1005+3A>G
|
rs375809563
|
0.00003
|
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
|
NM_000548.5(TSC2):c.1882C>T (p.Arg628Cys)
|
rs45437797
|
0.00003
|
|
NM_001009944.3(PKD1):c.3865G>A (p.Val1289Met)
|
rs541552030
|
0.00003
|
|
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)
|
rs1329127701
|
0.00003
|
|
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met)
|
rs781214034
|
0.00003
|
|
NM_001267550.2(TTN):c.17461+1G>T
|
rs747990127
|
0.00003
|
|
NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter)
|
rs769097909
|
0.00003
|
|
NM_001267550.2(TTN):c.33742+1G>T
|
rs772114165
|
0.00003
|
|
NM_001267550.2(TTN):c.40723+1G>T
|
rs371770198
|
0.00003
|
|
NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter)
|
rs747469275
|
0.00003
|
|
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn)
|
rs794729474
|
0.00003
|
|
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs)
|
rs587780494
|
0.00003
|
|
NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter)
|
rs542074139
|
0.00003
|
|
NM_001267550.2(TTN):c.8902+1G>A
|
rs770392096
|
0.00003
|
|
NM_001267550.2(TTN):c.9164-2A>T
|
rs777369921
|
0.00003
|
|
NM_001378457.1(DMXL2):c.7250G>A (p.Arg2417His)
|
rs754786373
|
0.00003
|
|
NM_001379180.1(ESRRB):c.599G>A (p.Arg200His)
|
rs752185665
|
0.00003
|
|
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)
|
rs558882005
|
0.00003
|
|
NM_001972.4(ELANE):c.659G>A (p.Arg220Gln)
|
rs137854445
|
0.00003
|
|
NM_002016.2(FLG):c.10225C>T (p.Arg3409Ter)
|
rs201356558
|
0.00003
|
|
NM_002016.2(FLG):c.138+1G>C
|
rs756254959
|
0.00003
|
|
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter)
|
rs121909626
|
0.00003
|
|
NM_002335.4(LRP5):c.1096G>A (p.Val366Met)
|
rs367543496
|
0.00003
|
|
NM_002335.4(LRP5):c.4268C>T (p.Pro1423Leu)
|
rs748143518
|
0.00003
|
|
NM_002693.3(POLG):c.2420G>A (p.Arg807His)
|
rs796052887
|
0.00003
|
|
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)
|
rs121918053
|
0.00003
|
|
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg)
|
rs121918049
|
0.00003
|
|
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)
|
rs201732356
|
0.00003
|
|
NM_002739.5(PRKCG):c.419G>A (p.Arg140Gln)
|
rs770016586
|
0.00003
|
|
NM_004004.6(GJB2):c.2T>C (p.Met1Thr)
|
rs371086981
|
0.00003
|
|
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)
|
rs998045226
|
0.00003
|
|
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser)
|
rs397515411
|
0.00003
|
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
|
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)
|
rs587780192
|
0.00003
|
|
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)
|
rs80357498
|
0.00003
|
|
NM_007294.4(BRCA1):c.4358-2786G>A
|
rs374435098
|
0.00003
|
|
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser)
|
rs515726196
|
0.00003
|
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
|
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys)
|
rs587778659
|
0.00003
|
|
NM_021930.6(RINT1):c.1603C>T (p.Arg535Ter)
|
rs764298491
|
0.00003
|
|
NM_024079.5(ALG8):c.673+4A>G
|
rs1470636347
|
0.00003
|
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
|
NM_175914.5(HNF4A):c.50-3462C>T
|
rs757731931
|
0.00003
|
|
NM_182961.4(SYNE1):c.17682+1G>A
|
rs1064796579
|
0.00003
|
|
NM_182961.4(SYNE1):c.24129+2T>C
|
rs544985182
|
0.00003
|
|
NM_194248.3(OTOF):c.4799+1G>A
|
rs200147906
|
0.00003
|
|
NM_198253.3(TERT):c.193C>G (p.Pro65Ala)
|
rs544215765
|
0.00003
|
|
NM_205836.3(FBXO38):c.1577G>A (p.Arg526Gln)
|
rs376255193
|
0.00003
|
|
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys)
|
rs371784007
|
0.00002
|
|
NM_000070.3(CAPN3):c.2440-1G>A
|
rs886044052
|
0.00002
|
|
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro)
|
rs758795961
|
0.00002
|
|
NM_000089.4(COL1A2):c.647G>A (p.Arg216His)
|
rs756743425
|
0.00002
|
|
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser)
|
rs755528878
|
0.00002
|
|
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)
|
rs534253913
|
0.00002
|
|
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)
|
rs757341933
|
0.00002
|
|
NM_000091.5(COL4A3):c.2535del (p.Leu846fs)
|
rs993103826
|
0.00002
|
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
|
NM_000091.5(COL4A3):c.971G>A (p.Gly324Asp)
|
rs566993466
|
0.00002
|
|
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg)
|
rs755961411
|
0.00002
|
|
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His)
|
rs147040026
|
0.00002
|
|
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
|
rs148076256
|
0.00002
|
|
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)
|
rs779490973
|
0.00002
|
|
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys)
|
rs765387131
|
0.00002
|
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
|
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter)
|
rs756730335
|
0.00002
|
|
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)
|
rs782539587
|
0.00002
|
|
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys)
|
rs397516292
|
0.00002
|
|
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val)
|
rs781989117
|
0.00002
|
|
NM_000260.4(MYO7A):c.2371C>T (p.Arg791Cys)
|
rs782165016
|
0.00002
|
|
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp)
|
rs554073390
|
0.00002
|
|
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile)
|
rs782787126
|
0.00002
|
|
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)
|
rs199606180
|
0.00002
|
|
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)
|
rs121965080
|
0.00002
|
|
NM_000260.4(MYO7A):c.722G>A (p.Arg241His)
|
rs111033284
|
0.00002
|
|
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys)
|
rs387906674
|
0.00002
|
|
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala)
|
rs766423432
|
0.00002
|
|
NM_000313.4(PROS1):c.233C>T (p.Thr78Met)
|
rs6122
|
0.00002
|
|
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)
|
rs62637004
|
0.00002
|
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
|
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp)
|
rs121912748
|
0.00002
|
|
NM_000410.4(HFE):c.546_547del (p.Leu183fs)
|
rs765804978
|
0.00002
|
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
|
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn)
|
rs137853999
|
0.00002
|
|
NM_001009944.3(PKD1):c.7940C>T (p.Thr2647Met)
|
rs748496650
|
0.00002
|
|
NM_001018057.2(DKK3):c.952C>T (p.Arg318Cys)
|
rs201778105
|
0.00002
|
|
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile)
|
rs199474755
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys)
|
rs750421791
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)
|
rs376712059
|
0.00002
|
|
NM_001256317.3(TMPRSS3):c.271C>T (p.Arg91Ter)
|
rs199903164
|
0.00002
|
|
NM_001267550.2(TTN):c.107628del (p.Asn35876fs)
|
rs766624923
|
0.00002
|
|
NM_001267550.2(TTN):c.16621+1G>T
|
rs761965693
|
0.00002
|
|
NM_001267550.2(TTN):c.21116-1G>A
|
rs771575556
|
0.00002
|
|
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter)
|
rs746721983
|
0.00002
|
|
NM_001267550.2(TTN):c.34855+1G>A
|
rs377319699
|
0.00002
|
|
NM_001267550.2(TTN):c.35797+1G>T
|
rs917175304
|
0.00002
|
|
NM_001267550.2(TTN):c.39895G>T (p.Glu13299Ter)
|
rs758166967
|
0.00002
|
|
NM_001267550.2(TTN):c.52406-2A>C
|
rs753798236
|
0.00002
|
|
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)
|
rs745376275
|
0.00002
|
|
NM_001267550.2(TTN):c.7057+1G>A
|
rs763909866
|
0.00002
|
|
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter)
|
rs1179247052
|
0.00002
|
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
|
NM_001282531.3(ADNP):c.662T>G (p.Ile221Ser)
|
rs747105829
|
0.00002
|
|
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter)
|
rs1057516045
|
0.00002
|
|
NM_002485.5(NBN):c.37+1G>A
|
rs574673404
|
0.00002
|
|
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)
|
rs199759055
|
0.00002
|
|
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp)
|
rs556925652
|
0.00002
|
|
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)
|
rs763393580
|
0.00002
|
|
NM_002878.4(RAD51D):c.363del (p.Ala122fs)
|
rs730881935
|
0.00002
|
|
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter)
|
rs587781756
|
0.00002
|
|
NM_002878.4(RAD51D):c.576+1G>A
|
rs781161543
|
0.00002
|
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
|
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)
|
rs750621215
|
0.00002
|
|
NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln)
|
rs920721092
|
0.00002
|
|
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys)
|
rs111033203
|
0.00002
|
|
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg)
|
rs770330002
|
0.00002
|
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
|
NM_004064.5(CDKN1B):c.206C>T (p.Pro69Leu)
|
rs777354267
|
0.00002
|
|
NM_004447.6(EPS8):c.205-8A>G
|
rs180899529
|
0.00002
|
|
NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser)
|
rs139314808
|
0.00002
|
|
NM_005861.4(STUB1):c.778dup (p.His260fs)
|
rs780883873
|
0.00002
|
|
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)
|
rs372855769
|
0.00002
|
|
NM_006767.4(LZTR1):c.1794C>A (p.Cys598Ter)
|
rs982944299
|
0.00002
|
|
NM_006767.4(LZTR1):c.2407-1G>A
|
rs200897030
|
0.00002
|
|
NM_006767.4(LZTR1):c.353G>A (p.Arg118His)
|
rs769001939
|
0.00002
|
|
NM_006946.4(SPTBN2):c.5066G>A (p.Arg1689His)
|
rs764884402
|
0.00002
|
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
|
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)
|
rs373073383
|
0.00002
|
|
NM_007294.4(BRCA1):c.5332+4A>G
|
rs80358166
|
0.00002
|
|
NM_015713.5(RRM2B):c.48G>A (p.Glu16=)
|
rs515726180
|
0.00002
|
|
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe)
|
rs763721044
|
0.00002
|
|
NM_024009.3(GJB3):c.302G>A (p.Arg101Gln)
|
rs765605645
|
0.00002
|
|
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
|
rs587776527
|
0.00002
|
|
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter)
|
rs775171520
|
0.00002
|
|
NM_057176.3(BSND):c.35T>C (p.Ile12Thr)
|
rs121908144
|
0.00002
|
|
NM_058216.3(RAD51C):c.571+5G>A
|
rs145779113
|
0.00002
|
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
|
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)
|
rs267606997
|
0.00002
|
|
NM_058216.3(RAD51C):c.837+1G>A
|
rs760235677
|
0.00002
|
|
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter)
|
rs911722283
|
0.00002
|
|
NM_138691.3(TMC1):c.674C>T (p.Pro225Leu)
|
rs370088722
|
0.00002
|
|
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)
|
rs773136605
|
0.00002
|
|
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp)
|
rs28942097
|
0.00002
|
|
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)
|
rs121912493
|
0.00002
|
|
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)
|
rs59601651
|
0.00002
|
|
NM_178170.3(NEK8):c.889+1G>T
|
rs780247729
|
0.00002
|
|
NM_203290.4(POLR1C):c.322C>T (p.His108Tyr)
|
rs1015942660
|
0.00002
|
|
NM_203290.4(POLR1C):c.326G>A (p.Arg109His)
|
rs796052127
|
0.00002
|
|
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys)
|
rs745795470
|
0.00002
|
|
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys)
|
rs1131691686
|
0.00001
|
|
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)
|
rs121909284
|
0.00001
|
|
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln)
|
rs1085307426
|
0.00001
|
|
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)
|
rs1085307405
|
0.00001
|
|
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu)
|
rs1283365095
|
0.00001
|
|
NM_000020.3(ACVRL1):c.598C>T (p.Arg200Trp)
|
rs999380946
|
0.00001
|
|
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr)
|
rs63750227
|
0.00001
|
|
NM_000041.4(APOE):c.127C>T (p.Arg43Cys)
|
rs121918399
|
0.00001
|
|
NM_000047.3(ARSL):c.24-1G>A
|
rs762627146
|
0.00001
|
|
NM_000047.3(ARSL):c.949G>A (p.Gly317Arg)
|
rs1178912922
|
0.00001
|
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
|
NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter)
|
rs397507634
|
0.00001
|
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
|
NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter)
|
rs80358631
|
0.00001
|
|
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter)
|
rs80358648
|
0.00001
|
|
NM_000059.4(BRCA2):c.4037del (p.Thr1346fs)
|
rs1162394508
|
0.00001
|
|
NM_000059.4(BRCA2):c.4039_4043del (p.Val1347fs)
|
rs1370021869
|
0.00001
|
|
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs)
|
rs80359436
|
0.00001
|
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
|
NM_000059.4(BRCA2):c.5961G>T (p.Gln1987His)
|
rs387907575
|
0.00001
|
|
NM_000059.4(BRCA2):c.632-3C>G
|
rs568027879
|
0.00001
|
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
|
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro)
|
rs80359045
|
0.00001
|
|
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys)
|
rs80359064
|
0.00001
|
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
|
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)
|
rs80359076
|
0.00001
|
|
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)
|
rs80359082
|
0.00001
|
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
|
NM_000059.4(BRCA2):c.880G>T (p.Glu294Ter)
|
rs397508009
|
0.00001
|
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
|
NM_000059.4(BRCA2):c.9648+1G>C
|
rs730881573
|
0.00001
|
|
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)
|
rs766334893
|
0.00001
|
|
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)
|
rs749099493
|
0.00001
|
|
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln)
|
rs988027905
|
0.00001
|
|
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)
|
rs139836397
|
0.00001
|
|
NM_000070.3(CAPN3):c.1448C>A (p.Ala483Asp)
|
rs781723572
|
0.00001
|
|
NM_000070.3(CAPN3):c.149A>G (p.Asn50Ser)
|
rs1262587749
|
0.00001
|
|
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)
|
rs142004418
|
0.00001
|
|
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)
|
rs372438001
|
0.00001
|
|
NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys)
|
rs747819910
|
0.00001
|
|
NM_000070.3(CAPN3):c.2115+1G>A
|
rs766917640
|
0.00001
|
|
NM_000070.3(CAPN3):c.2184G>A (p.Gln728=)
|
rs886043220
|
0.00001
|
|
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly)
|
rs750083132
|
0.00001
|
|
NM_000070.3(CAPN3):c.2465G>T (p.Ter822Leu)
|
rs1162942997
|
0.00001
|
|
NM_000070.3(CAPN3):c.550A>G (p.Thr184Ala)
|
rs1159580160
|
0.00001
|
|
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)
|
rs1345121557
|
0.00001
|
|
NM_000070.3(CAPN3):c.853dup (p.Glu285fs)
|
rs761257703
|
0.00001
|
|
NM_000070.3(CAPN3):c.946-29del
|
rs1595826640
|
0.00001
|
|
NM_000089.4(COL1A2):c.1522G>A (p.Gly508Ser)
|
rs769600024
|
0.00001
|
|
NM_000089.4(COL1A2):c.2531G>C (p.Gly844Ala)
|
rs928361235
|
0.00001
|
|
NM_000090.4(COL3A1):c.2023-1G>T
|
rs587779708
|
0.00001
|
|
NM_000090.4(COL3A1):c.2627G>C (p.Gly876Ala)
|
rs1158155272
|
0.00001
|
|
NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser)
|
rs794728054
|
0.00001
|
|
NM_000090.4(COL3A1):c.4254+3A>G
|
rs376799861
|
0.00001
|
|
NM_000090.4(COL3A1):c.852+2T>C
|
rs201314784
|
0.00001
|
|
NM_000090.4(COL3A1):c.862G>T (p.Gly288Cys)
|
rs1333066574
|
0.00001
|
|
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg)
|
rs757341933
|
0.00001
|
|
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg)
|
rs1256505387
|
0.00001
|
|
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg)
|
rs1457269547
|
0.00001
|
|
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)
|
rs773515249
|
0.00001
|
|
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg)
|
rs761686437
|
0.00001
|
|
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)
|
rs200672668
|
0.00001
|
|
NM_000091.5(COL4A3):c.1927+2T>C
|
rs1158937060
|
0.00001
|
|
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)
|
rs868002181
|
0.00001
|
|
NM_000091.5(COL4A3):c.2747-1G>C
|
rs1196996393
|
0.00001
|
|
NM_000091.5(COL4A3):c.2878A>G (p.Lys960Glu)
|
rs746766677
|
0.00001
|
|
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter)
|
rs1453590085
|
0.00001
|
|
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg)
|
rs769683665
|
0.00001
|
|
NM_000091.5(COL4A3):c.3210+1G>A
|
rs1553762314
|
0.00001
|
|
NM_000091.5(COL4A3):c.3250G>T (p.Glu1084Ter)
|
rs1192750535
|
0.00001
|
|
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)
|
rs202147112
|
0.00001
|
|
NM_000091.5(COL4A3):c.3593G>A (p.Gly1198Asp)
|
rs755849032
|
0.00001
|
|
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)
|
rs778886174
|
0.00001
|
|
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val)
|
rs1183958961
|
0.00001
|
|
NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala)
|
rs886055742
|
0.00001
|
|
NM_000091.5(COL4A3):c.441G>A (p.Pro147=)
|
rs373559251
|
0.00001
|
|
NM_000091.5(COL4A3):c.4755+1G>A
|
rs1346132592
|
0.00001
|
|
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln)
|
rs1380878336
|
0.00001
|
|
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val)
|
rs759583948
|
0.00001
|
|
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)
|
rs1014839148
|
0.00001
|
|
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met)
|
rs573527081
|
0.00001
|
|
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)
|
rs869025328
|
0.00001
|
|
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs)
|
rs756133651
|
0.00001
|
|
NM_000092.5(COL4A4):c.4858G>A (p.Gly1620Ser)
|
rs1271416659
|
0.00001
|
|
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp)
|
rs766550724
|
0.00001
|
|
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr)
|
rs1386495377
|
0.00001
|
|
NM_000092.5(COL4A4):c.735+2T>C
|
rs2060993180
|
0.00001
|
|
NM_000093.5(COL5A1):c.1720-11T>A
|
rs863223444
|
0.00001
|
|
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)
|
rs777625241
|
0.00001
|
|
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys)
|
rs752010116
|
0.00001
|
|
NM_000138.5(FBN1):c.1634G>A (p.Arg545His)
|
rs193922179
|
0.00001
|
|
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)
|
rs727503057
|
0.00001
|
|
NM_000138.5(FBN1):c.2057C>A (p.Ala686Asp)
|
rs193922186
|
0.00001
|
|
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)
|
rs794728291
|
0.00001
|
|
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)
|
rs397514558
|
0.00001
|
|
NM_000138.5(FBN1):c.2977T>C (p.Cys993Arg)
|
rs1206813753
|
0.00001
|
|
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg)
|
rs1267721327
|
0.00001
|
|
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)
|
rs1439487763
|
0.00001
|
|
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn)
|
rs794728204
|
0.00001
|
|
NM_000138.5(FBN1):c.347-2A>G
|
rs1555405056
|
0.00001
|
|
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)
|
rs1406315227
|
0.00001
|
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
|
NM_000138.5(FBN1):c.4931G>A (p.Arg1644Gln)
|
rs768366890
|
0.00001
|
|
NM_000138.5(FBN1):c.494G>A (p.Arg165Gln)
|
rs1060501079
|
0.00001
|
|
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His)
|
rs373320952
|
0.00001
|
|
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu)
|
rs867058901
|
0.00001
|
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
|
NM_000138.5(FBN1):c.610T>C (p.Cys204Arg)
|
rs2044026132
|
0.00001
|
|
NM_000138.5(FBN1):c.6113G>A (p.Cys2038Tyr)
|
rs363804
|
0.00001
|
|
NM_000138.5(FBN1):c.643C>G (p.Arg215Gly)
|
rs111687884
|
0.00001
|
|
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg)
|
rs756219617
|
0.00001
|
|
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly)
|
rs1057520617
|
0.00001
|
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
|
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His)
|
rs770443276
|
0.00001
|
|
NM_000138.5(FBN1):c.7906G>A (p.Gly2636Ser)
|
rs112566465
|
0.00001
|
|
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)
|
rs794728280
|
0.00001
|
|
NM_000138.5(FBN1):c.8039G>A (p.Arg2680His)
|
rs748934203
|
0.00001
|
|
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys)
|
rs1161109360
|
0.00001
|
|
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)
|
rs63750741
|
0.00001
|
|
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)
|
rs587779227
|
0.00001
|
|
NM_000179.3(MSH6):c.261-1G>C
|
rs863225402
|
0.00001
|
|
NM_000179.3(MSH6):c.2779dup (p.Ile927fs)
|
rs587782277
|
0.00001
|
|
NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs)
|
rs63751327
|
0.00001
|
|
NM_000179.3(MSH6):c.3563G>A (p.Ser1188Asn)
|
rs587779272
|
0.00001
|
|
NM_000179.3(MSH6):c.3660_3663dup (p.Phe1222fs)
|
rs752404604
|
0.00001
|
|
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser)
|
rs587779285
|
0.00001
|
|
NM_000179.3(MSH6):c.3801+1G>T
|
rs876660943
|
0.00001
|
|
NM_000179.3(MSH6):c.628-2A>G
|
rs1114167725
|
0.00001
|
|
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)
|
rs146816935
|
0.00001
|
|
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln)
|
rs61750171
|
0.00001
|
|
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)
|
rs61750172
|
0.00001
|
|
NM_000180.4(GUCY2D):c.3224+1G>C
|
rs757823463
|
0.00001
|
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
|
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)
|
rs63751596
|
0.00001
|
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
|
NM_000249.4(MLH1):c.207+1G>A
|
rs267607718
|
0.00001
|
|
NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter)
|
rs147542208
|
0.00001
|
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
|
NM_000249.4(MLH1):c.778C>T (p.Leu260Phe)
|
rs63750642
|
0.00001
|
|
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln)
|
rs759263820
|
0.00001
|
|
NM_000251.3(MSH2):c.2458+2T>C
|
rs1278858560
|
0.00001
|
|
NM_000251.3(MSH2):c.2459-6_2459-2del
|
rs1114167841
|
0.00001
|
|
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp)
|
rs587779162
|
0.00001
|
|
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp)
|
rs1555067667
|
0.00001
|
|
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)
|
rs111033219
|
0.00001
|
|
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)
|
rs111033206
|
0.00001
|
|
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter)
|
rs781951909
|
0.00001
|
|
NM_000260.4(MYO7A):c.2187+1G>A
|
rs111033290
|
0.00001
|
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
|
NM_000260.4(MYO7A):c.285+1G>C
|
rs782661097
|
0.00001
|
|
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser)
|
rs781988557
|
0.00001
|
|
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr)
|
rs1555090442
|
0.00001
|
|
NM_000260.4(MYO7A):c.3718C>T (p.Arg1240Trp)
|
rs371374104
|
0.00001
|
|
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys)
|
rs782808261
|
0.00001
|
|
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly)
|
rs757460257
|
0.00001
|
|
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs)
|
rs1199012623
|
0.00001
|
|
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu)
|
rs1478464275
|
0.00001
|
|
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)
|
rs368657015
|
0.00001
|
|
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)
|
rs397516323
|
0.00001
|
|
NM_000260.4(MYO7A):c.6230G>A (p.Trp2077Ter)
|
rs776930594
|
0.00001
|
|
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met)
|
rs1383147250
|
0.00001
|
|
NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter)
|
rs747095250
|
0.00001
|
|
NM_000264.5(PTCH1):c.395-1G>A
|
rs368869806
|
0.00001
|
|
NM_000278.5(PAX2):c.616+5648T>C
|
rs747453876
|
0.00001
|
|
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)
|
rs1578130676
|
0.00001
|
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
|
NM_000297.4(PKD2):c.1319+1G>A
|
rs1131692280
|
0.00001
|
|
NM_000297.4(PKD2):c.1898+5G>A
|
rs1553926929
|
0.00001
|
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
|
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln)
|
rs145877597
|
0.00001
|
|
NM_000313.4(PROS1):c.1064G>A (p.Arg355His)
|
rs780863931
|
0.00001
|
|
NM_000313.4(PROS1):c.1252A>T (p.Asn418Tyr)
|
rs753603433
|
0.00001
|
|
NM_000313.4(PROS1):c.137T>C (p.Leu46Pro)
|
rs779469907
|
0.00001
|
|
NM_000313.4(PROS1):c.1832T>C (p.Met611Thr)
|
rs750531364
|
0.00001
|
|
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser)
|
rs1859965098
|
0.00001
|
|
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_000329.3(RPE65):c.1249G>C (p.Glu417Gln)
|
rs62636299
|
0.00001
|
|
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)
|
rs774309607
|
0.00001
|
|
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
|
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)
|
rs28931584
|
0.00001
|
|
NM_000342.4(SLC4A1):c.2656C>A (p.Leu886Met)
|
rs150340150
|
0.00001
|
|
NM_000388.4(CASR):c.106G>A (p.Gly36Arg)
|
rs193922420
|
0.00001
|
|
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)
|
rs121909258
|
0.00001
|
|
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)
|
rs140022350
|
0.00001
|
|
NM_000393.5(COL5A2):c.1302G>A (p.Thr434=)
|
rs376170776
|
0.00001
|
|
NM_000410.4(HFE):c.76+2T>C
|
rs776994377
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg)
|
rs142498437
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2106del (p.Lys702fs)
|
rs1374832271
|
0.00001
|
|
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val)
|
rs1562822565
|
0.00001
|
|
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter)
|
rs796666047
|
0.00001
|
|
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter)
|
rs200164773
|
0.00001
|
|
NM_000527.5(LDLR):c.947A>G (p.Asn316Ser)
|
rs730882094
|
0.00001
|
|
NM_000530.8(MPZ):c.116A>C (p.His39Pro)
|
rs371856018
|
0.00001
|
|
NM_000530.8(MPZ):c.186C>G (p.Ile62Met)
|
rs121913605
|
0.00001
|
|
NM_000535.7(PMS2):c.1144+1G>A
|
rs373885654
|
0.00001
|
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
|
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)
|
rs1064794577
|
0.00001
|
|
NM_000535.7(PMS2):c.164-1G>A
|
rs763308607
|
0.00001
|
|
NM_000535.7(PMS2):c.2007-2A>C
|
rs587782336
|
0.00001
|
|
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)
|
rs730881915
|
0.00001
|
|
NM_000535.7(PMS2):c.2174+1G>A
|
rs267608172
|
0.00001
|
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
|
NM_000535.7(PMS2):c.23+1G>T
|
rs587782074
|
0.00001
|
|
NM_000535.7(PMS2):c.2382dup (p.Gly795fs)
|
rs1231406078
|
0.00001
|
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
|
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)
|
rs1064794083
|
0.00001
|
|
NM_000535.7(PMS2):c.251-2A>T
|
rs587779340
|
0.00001
|
|
NM_000535.7(PMS2):c.2T>C (p.Met1Thr)
|
rs587780059
|
0.00001
|
|
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)
|
rs188006077
|
0.00001
|
|
NM_000535.7(PMS2):c.506G>A (p.Arg169His)
|
rs730881917
|
0.00001
|
|
NM_000535.7(PMS2):c.538-1G>C
|
rs988423880
|
0.00001
|
|
NM_000535.7(PMS2):c.538-2A>G
|
rs758304323
|
0.00001
|
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
0.00001
|
|
NM_000535.7(PMS2):c.706-2A>G
|
rs745487791
|
0.00001
|
|
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)
|
rs1458321358
|
0.00001
|
|
NM_000535.7(PMS2):c.804-2A>G
|
rs1307026290
|
0.00001
|
|
NM_000535.7(PMS2):c.825A>G (p.Gln275=)
|
rs876659736
|
0.00001
|
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
|
NM_000546.6(TP53):c.375G>A (p.Thr125=)
|
rs55863639
|
0.00001
|
|
NM_000546.6(TP53):c.376-1G>A
|
rs868137297
|
0.00001
|
|
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)
|
rs1057519996
|
0.00001
|
|
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
|
rs587782705
|
0.00001
|
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
|
NM_000546.6(TP53):c.523C>T (p.Arg175Cys)
|
rs138729528
|
0.00001
|
|
NM_000546.6(TP53):c.530C>T (p.Pro177Leu)
|
rs751477326
|
0.00001
|
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
|
NM_000546.6(TP53):c.536A>G (p.His179Arg)
|
rs1057519991
|
0.00001
|
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
|
NM_000546.6(TP53):c.685T>C (p.Cys229Arg)
|
rs1064794312
|
0.00001
|
|
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
|
rs587782664
|
0.00001
|
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
rs730882005
|
0.00001
|
|
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)
|
rs121912655
|
0.00001
|
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
|
NM_000546.6(TP53):c.840A>T (p.Arg280Ser)
|
rs1567547687
|
0.00001
|
|
NM_000546.6(TP53):c.841G>A (p.Asp281Asn)
|
rs764146326
|
0.00001
|
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
|
NM_000546.6(TP53):c.853G>A (p.Glu285Lys)
|
rs112431538
|
0.00001
|
|
NM_000548.5(TSC2):c.4570-1G>A
|
rs777985056
|
0.00001
|
|
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)
|
rs45517395
|
0.00001
|
|
NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro)
|
rs28936683
|
0.00001
|
|
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln)
|
rs730880056
|
0.00001
|
|
NM_001009944.3(PKD1):c.11338_11345dup (p.Asp3782fs)
|
rs2091618729
|
0.00001
|
|
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser)
|
rs1163700577
|
0.00001
|
|
NM_001009944.3(PKD1):c.3494A>G (p.Asp1165Gly)
|
rs751293870
|
0.00001
|
|
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val)
|
rs144338515
|
0.00001
|
|
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)
|
rs752793757
|
0.00001
|
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
|
NM_001009944.3(PKD1):c.9202-16G>A
|
rs1389523126
|
0.00001
|
|
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met)
|
rs1358566538
|
0.00001
|
|
NM_001009944.3(PKD1):c.9562A>G (p.Asn3188Asp)
|
rs1384099162
|
0.00001
|
|
NM_001009944.3(PKD1):c.9986C>T (p.Ser3329Phe)
|
rs1203304646
|
0.00001
|
|
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser)
|
rs771145682
|
0.00001
|
|
NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly)
|
rs387907088
|
0.00001
|
|
NM_001039213.4(CEACAM16):c.1097C>T (p.Pro366Leu)
|
rs762367899
|
0.00001
|
|
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg)
|
rs199474730
|
0.00001
|
|
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)
|
rs199474728
|
0.00001
|
|
NM_001042492.3(NF1):c.3586C>T (p.Leu1196Phe)
|
rs1555615039
|
0.00001
|
|
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp)
|
rs199474732
|
0.00001
|
|
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter)
|
rs1193716348
|
0.00001
|
|
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu)
|
rs754511534
|
0.00001
|
|
NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter)
|
rs367688416
|
0.00001
|
|
NM_001080414.4(CCDC88C):c.1993G>A (p.Glu665Lys)
|
rs956104232
|
0.00001
|
|
NM_001080414.4(CCDC88C):c.755dup (p.Ala253fs)
|
rs1555422946
|
0.00001
|
|
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter)
|
rs1554809450
|
0.00001
|
|
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)
|
rs1434169817
|
0.00001
|
|
NM_001114753.3(ENG):c.790G>A (p.Asp264Asn)
|
rs1210433339
|
0.00001
|
|
NM_001122955.4(BSCL2):c.1004A>C (p.Gln335Pro)
|
rs779199750
|
0.00001
|
|
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
|
rs137852973
|
0.00001
|
|
NM_001122955.4(BSCL2):c.486+1G>A
|
rs1011200048
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile)
|
rs1296629000
|
0.00001
|
|
NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter)
|
rs267607135
|
0.00001
|
|
NM_001145809.2(MYH14):c.2971G>A (p.Glu991Lys)
|
rs367588704
|
0.00001
|
|
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)
|
rs121912683
|
0.00001
|
|
NM_001190274.2(FBXO11):c.2699C>G (p.Thr900Arg)
|
rs780870758
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu)
|
rs760474458
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val)
|
rs748759187
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.965+2T>C
|
rs755370981
|
0.00001
|
|
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter)
|
rs775062249
|
0.00001
|
|
NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter)
|
rs199927859
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1048C>T (p.Arg350Trp)
|
rs387907259
|
0.00001
|
|
NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys)
|
rs672601365
|
0.00001
|
|
NM_001256317.3(TMPRSS3):c.581G>T (p.Cys194Phe)
|
rs1333651774
|
0.00001
|
|
NM_001256317.3(TMPRSS3):c.767C>T (p.Ala256Val)
|
rs1306292205
|
0.00001
|
|
NM_001256850.1(TTN):c.38621dup (p.Phe12875fs)
|
rs752856716
|
0.00001
|
|
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)
|
rs1064793560
|
0.00001
|
|
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter)
|
rs1260821931
|
0.00001
|
|
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)
|
rs766265889
|
0.00001
|
|
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter)
|
rs794729305
|
0.00001
|
|
NM_001267550.2(TTN):c.10303+2T>C
|
rs371596417
|
0.00001
|
|
NM_001267550.2(TTN):c.103408G>T (p.Glu34470Ter)
|
rs769023413
|
0.00001
|
|
NM_001267550.2(TTN):c.103771C>T (p.Arg34591Ter)
|
rs967542291
|
0.00001
|
|
NM_001267550.2(TTN):c.103945C>T (p.Arg34649Ter)
|
rs995029896
|
0.00001
|
|
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter)
|
rs727504184
|
0.00001
|
|
NM_001267550.2(TTN):c.104399del (p.Arg34800fs)
|
rs747662439
|
0.00001
|
|
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter)
|
rs750519430
|
0.00001
|
|
NM_001267550.2(TTN):c.104827C>T (p.Arg34943Ter)
|
rs1202115268
|
0.00001
|
|
NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter)
|
rs991187915
|
0.00001
|
|
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)
|
rs886043924
|
0.00001
|
|
NM_001267550.2(TTN):c.106114_106115dup (p.Leu35372fs)
|
rs1394131775
|
0.00001
|
|
NM_001267550.2(TTN):c.106279C>T (p.Gln35427Ter)
|
rs1285334952
|
0.00001
|
|
NM_001267550.2(TTN):c.106532-2A>C
|
rs753610150
|
0.00001
|
|
NM_001267550.2(TTN):c.107219dup (p.Pro35741fs)
|
rs1427595954
|
0.00001
|
|
NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter)
|
rs1477669354
|
0.00001
|
|
NM_001267550.2(TTN):c.10852C>T (p.Gln3618Ter)
|
rs779064556
|
0.00001
|
|
NM_001267550.2(TTN):c.12016_12019dup (p.Gly4007fs)
|
rs1553940935
|
0.00001
|
|
NM_001267550.2(TTN):c.1489G>T (p.Glu497Ter)
|
rs1185562018
|
0.00001
|
|
NM_001267550.2(TTN):c.15346C>T (p.Arg5116Ter)
|
rs1057518470
|
0.00001
|
|
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter)
|
rs372277017
|
0.00001
|
|
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter)
|
rs772235481
|
0.00001
|
|
NM_001267550.2(TTN):c.17032C>T (p.Arg5678Ter)
|
rs1199616569
|
0.00001
|
|
NM_001267550.2(TTN):c.20107C>T (p.Arg6703Ter)
|
rs2079499416
|
0.00001
|
|
NM_001267550.2(TTN):c.21118C>T (p.Arg7040Ter)
|
rs576359448
|
0.00001
|
|
NM_001267550.2(TTN):c.21142C>T (p.Arg7048Ter)
|
rs770579313
|
0.00001
|
|
NM_001267550.2(TTN):c.21961G>A (p.Glu7321Lys)
|
rs2078691261
|
0.00001
|
|
NM_001267550.2(TTN):c.22633C>T (p.Arg7545Ter)
|
rs764687326
|
0.00001
|
|
NM_001267550.2(TTN):c.22930C>T (p.Arg7644Ter)
|
rs1340940049
|
0.00001
|
|
NM_001267550.2(TTN):c.23215C>T (p.Arg7739Ter)
|
rs372250586
|
0.00001
|
|
NM_001267550.2(TTN):c.23386C>T (p.Arg7796Ter)
|
rs748111134
|
0.00001
|
|
NM_001267550.2(TTN):c.2371-1G>A
|
rs755365744
|
0.00001
|
|
NM_001267550.2(TTN):c.25383del (p.Lys8461fs)
|
rs1452206214
|
0.00001
|
|
NM_001267550.2(TTN):c.25639+2T>G
|
rs769452066
|
0.00001
|
|
NM_001267550.2(TTN):c.25783A>T (p.Lys8595Ter)
|
rs887577241
|
0.00001
|
|
NM_001267550.2(TTN):c.26482+1G>C
|
rs1440418037
|
0.00001
|
|
NM_001267550.2(TTN):c.27329-1G>T
|
rs1378646156
|
0.00001
|
|
NM_001267550.2(TTN):c.28739C>A (p.Ser9580Ter)
|
rs375212459
|
0.00001
|
|
NM_001267550.2(TTN):c.29381_29382del (p.Gln9794fs)
|
rs1290002563
|
0.00001
|
|
NM_001267550.2(TTN):c.30223+1G>A
|
rs556408709
|
0.00001
|
|
NM_001267550.2(TTN):c.30511+1G>C
|
rs879082842
|
0.00001
|
|
NM_001267550.2(TTN):c.31426+1G>C
|
rs6749719
|
0.00001
|
|
NM_001267550.2(TTN):c.32011+1G>T
|
rs1471534246
|
0.00001
|
|
NM_001267550.2(TTN):c.32392+1G>A
|
rs1424314036
|
0.00001
|
|
NM_001267550.2(TTN):c.32471-1G>A
|
rs371725574
|
0.00001
|
|
NM_001267550.2(TTN):c.32555-1G>A
|
rs932486601
|
0.00001
|
|
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter)
|
rs150954246
|
0.00001
|
|
NM_001267550.2(TTN):c.33418+1G>A
|
rs746588865
|
0.00001
|
|
NM_001267550.2(TTN):c.33419-2A>C
|
rs756841034
|
0.00001
|
|
NM_001267550.2(TTN):c.33910+1G>T
|
rs893407745
|
0.00001
|
|
NM_001267550.2(TTN):c.34446del (p.Ala11483fs)
|
rs1488354536
|
0.00001
|
|
NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter)
|
rs1441434215
|
0.00001
|
|
NM_001267550.2(TTN):c.34612+1G>A
|
rs577363824
|
0.00001
|
|
NM_001267550.2(TTN):c.34837G>T (p.Glu11613Ter)
|
rs766945794
|
0.00001
|
|
NM_001267550.2(TTN):c.36448+2T>C
|
rs1426178024
|
0.00001
|
|
NM_001267550.2(TTN):c.38876-2A>C
|
rs1185989004
|
0.00001
|
|
NM_001267550.2(TTN):c.39547+1G>A
|
rs1335572575
|
0.00001
|
|
NM_001267550.2(TTN):c.39715G>T (p.Glu13239Ter)
|
rs879110681
|
0.00001
|
|
NM_001267550.2(TTN):c.40634-1G>A
|
rs749062863
|
0.00001
|
|
NM_001267550.2(TTN):c.42214C>T (p.Arg14072Ter)
|
rs794729258
|
0.00001
|
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00001
|
|
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)
|
rs727505350
|
0.00001
|
|
NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter)
|
rs1060500405
|
0.00001
|
|
NM_001267550.2(TTN):c.45616+1G>C
|
rs1395648308
|
0.00001
|
|
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs)
|
rs794729319
|
0.00001
|
|
NM_001267550.2(TTN):c.48160+1G>C
|
rs779498825
|
0.00001
|
|
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter)
|
rs374140736
|
0.00001
|
|
NM_001267550.2(TTN):c.48527G>A (p.Trp16176Ter)
|
rs869312048
|
0.00001
|
|
NM_001267550.2(TTN):c.49346-2A>T
|
rs794729263
|
0.00001
|
|
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter)
|
rs1471414348
|
0.00001
|
|
NM_001267550.2(TTN):c.51986_51987del (p.Lys17329fs)
|
rs1195974666
|
0.00001
|
|
NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter)
|
rs753333359
|
0.00001
|
|
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter)
|
rs768431507
|
0.00001
|
|
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter)
|
rs747236787
|
0.00001
|
|
NM_001267550.2(TTN):c.55300C>T (p.Gln18434Ter)
|
rs1284529298
|
0.00001
|
|
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter)
|
rs1483931960
|
0.00001
|
|
NM_001267550.2(TTN):c.56051-1G>A
|
rs1385817640
|
0.00001
|
|
NM_001267550.2(TTN):c.56648-1G>A
|
rs769912484
|
0.00001
|
|
NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter)
|
rs72646828
|
0.00001
|
|
NM_001267550.2(TTN):c.57127del (p.Glu19042_Val19043insTer)
|
rs2052216955
|
0.00001
|
|
NM_001267550.2(TTN):c.57378G>A (p.Trp19126Ter)
|
rs1192054216
|
0.00001
|
|
NM_001267550.2(TTN):c.57603C>A (p.Cys19201Ter)
|
rs1418030810
|
0.00001
|
|
NM_001267550.2(TTN):c.57849del (p.Val19284fs)
|
rs776385412
|
0.00001
|
|
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter)
|
rs768073446
|
0.00001
|
|
NM_001267550.2(TTN):c.583+2T>C
|
rs772731855
|
0.00001
|
|
NM_001267550.2(TTN):c.58732+2T>C
|
rs869312054
|
0.00001
|
|
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter)
|
rs1250461669
|
0.00001
|
|
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter)
|
rs974671846
|
0.00001
|
|
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter)
|
rs797044692
|
0.00001
|
|
NM_001267550.2(TTN):c.62424del (p.Asp20808fs)
|
rs1250302805
|
0.00001
|
|
NM_001267550.2(TTN):c.63370C>T (p.Gln21124Ter)
|
rs1341948399
|
0.00001
|
|
NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter)
|
rs869312098
|
0.00001
|
|
NM_001267550.2(TTN):c.6508+1G>T
|
rs1373416532
|
0.00001
|
|
NM_001267550.2(TTN):c.67348+1G>A
|
rs758279518
|
0.00001
|
|
NM_001267550.2(TTN):c.67349-2A>C
|
rs753948675
|
0.00001
|
|
NM_001267550.2(TTN):c.67636+2T>C
|
rs1575872984
|
0.00001
|
|
NM_001267550.2(TTN):c.68224+2T>C
|
rs1321711553
|
0.00001
|
|
NM_001267550.2(TTN):c.68484del (p.Lys22828fs)
|
rs1370805955
|
0.00001
|
|
NM_001267550.2(TTN):c.68527+1G>C
|
rs766984722
|
0.00001
|
|
NM_001267550.2(TTN):c.69420del (p.Gly23141fs)
|
rs1330960948
|
0.00001
|
|
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter)
|
rs794729284
|
0.00001
|
|
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter)
|
rs545954490
|
0.00001
|
|
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs)
|
rs1205409465
|
0.00001
|
|
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)
|
rs794729289
|
0.00001
|
|
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter)
|
rs1419374180
|
0.00001
|
|
NM_001267550.2(TTN):c.7952_7953dup (p.Trp2652fs)
|
rs1340562376
|
0.00001
|
|
NM_001267550.2(TTN):c.79882C>T (p.Arg26628Ter)
|
rs1373472758
|
0.00001
|
|
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter)
|
rs766840243
|
0.00001
|
|
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)
|
rs1575649368
|
0.00001
|
|
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs)
|
rs794729351
|
0.00001
|
|
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter)
|
rs886055237
|
0.00001
|
|
NM_001267550.2(TTN):c.84255C>A (p.Cys28085Ter)
|
rs772842119
|
0.00001
|
|
NM_001267550.2(TTN):c.86528T>G (p.Leu28843Ter)
|
rs752378132
|
0.00001
|
|
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter)
|
rs776065839
|
0.00001
|
|
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter)
|
rs794729300
|
0.00001
|
|
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter)
|
rs1553539391
|
0.00001
|
|
NM_001267550.2(TTN):c.93139C>T (p.Arg31047Ter)
|
rs1416323929
|
0.00001
|
|
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter)
|
rs869312121
|
0.00001
|
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
|
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)
|
rs794729365
|
0.00001
|
|
NM_001287.6(CLCN7):c.1576C>T (p.Arg526Trp)
|
rs1233085260
|
0.00001
|
|
NM_001289104.2(PRKCSH):c.188A>C (p.Asp63Ala)
|
rs1969752491
|
0.00001
|
|
NM_001289104.2(PRKCSH):c.76_79+4dup
|
rs1969723330
|
0.00001
|
|
NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)
|
rs387907338
|
0.00001
|
|
NM_001354587.1(ANKRD36):c.2589T>G (p.Ser863Arg)
|
rs534494159
|
0.00001
|
|
NM_001354604.2(MITF):c.355-1062G>C
|
rs1236436555
|
0.00001
|
|
NM_001365951.3(KIF1B):c.2642A>G (p.Tyr881Cys)
|
rs755850268
|
0.00001
|
|
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu)
|
rs761102084
|
0.00001
|
|
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp)
|
rs863224810
|
0.00001
|
|
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser)
|
rs1085307471
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.1411C>T (p.Arg471Cys)
|
rs2047892380
|
0.00001
|
|
NM_001378452.1(ITPR1):c.1516C>T (p.Arg506Trp)
|
rs2093873570
|
0.00001
|
|
NM_001378452.1(ITPR1):c.2843G>A (p.Gly948Glu)
|
rs1443276640
|
0.00001
|
|
NM_001458.5(FLNC):c.4069G>A (p.Gly1357Arg)
|
rs1218299104
|
0.00001
|
|
NM_001458.5(FLNC):c.4738-1G>A
|
rs1808678197
|
0.00001
|
|
NM_001458.5(FLNC):c.5199+1G>T
|
rs1465588989
|
0.00001
|
|
NM_001540.5(HSPB1):c.158G>A (p.Gly53Asp)
|
rs375244209
|
0.00001
|
|
NM_001904.4(CTNNB1):c.2189G>A (p.Gly730Asp)
|
rs2078513943
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1136T>C (p.Ile379Thr)
|
rs1490454929
|
0.00001
|
|
NM_002016.2(FLG):c.4808_4812dup (p.Glu1605fs)
|
rs775716153
|
0.00001
|
|
NM_002016.2(FLG):c.6014_6015del (p.His2005fs)
|
rs1314484669
|
0.00001
|
|
NM_002067.5(GNA11):c.161C>T (p.Thr54Met)
|
rs1335558363
|
0.00001
|
|
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)
|
rs758432471
|
0.00001
|
|
NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys)
|
rs57802288
|
0.00001
|
|
NM_002335.4(LRP5):c.1183C>T (p.Arg395Trp)
|
rs1177481438
|
0.00001
|
|
NM_002335.4(LRP5):c.1210G>A (p.Gly404Arg)
|
rs750791263
|
0.00001
|
|
NM_002335.4(LRP5):c.1300G>A (p.Asp434Asn)
|
rs757888034
|
0.00001
|
|
NM_002335.4(LRP5):c.2555C>T (p.Thr852Met)
|
rs1398692057
|
0.00001
|
|
NM_002335.4(LRP5):c.3122C>T (p.Thr1041Met)
|
rs1311935185
|
0.00001
|
|
NM_002470.4(MYH3):c.1581+1G>A
|
rs1350968647
|
0.00001
|
|
NM_002470.4(MYH3):c.700G>A (p.Ala234Thr)
|
rs121913623
|
0.00001
|
|
NM_002485.5(NBN):c.175C>T (p.Gln59Ter)
|
rs1554568427
|
0.00001
|
|
NM_002693.3(POLG):c.1252T>C (p.Cys418Arg)
|
rs758112770
|
0.00001
|
|
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg)
|
rs796052906
|
0.00001
|
|
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln)
|
rs796052888
|
0.00001
|
|
NM_002693.3(POLG):c.3104+2T>A
|
rs747632869
|
0.00001
|
|
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)
|
rs1354582663
|
0.00001
|
|
NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu)
|
rs1303074743
|
0.00001
|
|
NM_002834.5(PTPN11):c.115G>A (p.Gly39Arg)
|
rs886041585
|
0.00001
|
|
NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala)
|
rs886043790
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His)
|
rs752669339
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln)
|
rs748925635
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter)
|
rs1462559161
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.88+1G>A
|
rs556267618
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro)
|
rs765380273
|
0.00001
|
|
NM_002878.4(RAD51D):c.442C>T (p.Gln148Ter)
|
rs773906955
|
0.00001
|
|
NM_002878.4(RAD51D):c.619T>C (p.Ser207Pro)
|
rs372365287
|
0.00001
|
|
NM_002878.4(RAD51D):c.649G>T (p.Gly217Ter)
|
rs775365939
|
0.00001
|
|
NM_002878.4(RAD51D):c.655C>T (p.Gln219Ter)
|
rs771007945
|
0.00001
|
|
NM_002878.4(RAD51D):c.739-1G>A
|
rs1555567202
|
0.00001
|
|
NM_002880.4(RAF1):c.61G>A (p.Val21Met)
|
rs752484962
|
0.00001
|
|
NM_003002.4(SDHD):c.53-1G>T
|
rs1291507545
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3922C>T (p.Arg1308Trp)
|
rs587779750
|
0.00001
|
|
NM_003238.6(TGFB2):c.547C>T (p.Arg183Cys)
|
rs1436552875
|
0.00001
|
|
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp)
|
rs868258653
|
0.00001
|
|
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp)
|
rs142601521
|
0.00001
|
|
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr)
|
rs762643638
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln)
|
rs727504292
|
0.00001
|
|
NM_003242.6(TGFBR2):c.761G>A (p.Arg254His)
|
rs751948498
|
0.00001
|
|
NM_003242.6(TGFBR2):c.95-2A>G
|
rs779131465
|
0.00001
|
|
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)
|
rs398123697
|
0.00001
|
|
NM_003680.4(YARS1):c.620G>A (p.Arg207Gln)
|
rs371267865
|
0.00001
|
|
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
|
rs727504309
|
0.00001
|
|
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)
|
rs28931593
|
0.00001
|
|
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)
|
rs111033361
|
0.00001
|
|
NM_004004.6(GJB2):c.246C>G (p.Ile82Met)
|
rs781534323
|
0.00001
|
|
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
|
rs397516871
|
0.00001
|
|
NM_004004.6(GJB2):c.31_68del (p.Gly11fs)
|
rs397516873
|
0.00001
|
|
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)
|
rs80338946
|
0.00001
|
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
|
NM_004004.6(GJB2):c.583A>G (p.Met195Val)
|
rs532203068
|
0.00001
|
|
NM_004004.6(GJB2):c.584T>C (p.Met195Thr)
|
rs1378679640
|
0.00001
|
|
NM_004004.6(GJB2):c.60T>G (p.Ile20Met)
|
rs749693224
|
0.00001
|
|
NM_004082.5(DCTN1):c.3823C>T (p.Arg1275Cys)
|
rs766653950
|
0.00001
|
|
NM_004086.3(COCH):c.263G>T (p.Gly88Val)
|
rs121908928
|
0.00001
|
|
NM_004086.3(COCH):c.292C>T (p.Arg98Ter)
|
rs756790858
|
0.00001
|
|
NM_004100.5(EYA4):c.1109G>A (p.Arg370His)
|
rs143936434
|
0.00001
|
|
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His)
|
rs755827803
|
0.00001
|
|
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)
|
rs760079636
|
0.00001
|
|
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser)
|
rs28939710
|
0.00001
|
|
NM_004977.3(KCNC3):c.1223A>G (p.Asp408Gly)
|
rs2037067131
|
0.00001
|
|
NM_005121.3(MED13):c.5683_5684del (p.Met1895fs)
|
rs750570850
|
0.00001
|
|
NM_005219.5(DIAPH1):c.145-1G>A
|
rs763349669
|
0.00001
|
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
|
NM_005378.6(MYCN):c.77C>T (p.Pro26Leu)
|
rs1662700407
|
0.00001
|
|
NM_005422.4(TECTA):c.4055G>A (p.Cys1352Tyr)
|
rs749186691
|
0.00001
|
|
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys)
|
rs1455568421
|
0.00001
|
|
NM_005591.4(MRE11):c.1771C>T (p.Gln591Ter)
|
rs1215450873
|
0.00001
|
|
NM_005591.4(MRE11):c.2070+2T>A
|
rs786202801
|
0.00001
|
|
NM_005591.4(MRE11):c.315-2A>G
|
rs876659145
|
0.00001
|
|
NM_005654.6(NR2F1):c.1117C>T (p.Arg373Ter)
|
rs1297603674
|
0.00001
|
|
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter)
|
rs373428259
|
0.00001
|
|
NM_005732.4(RAD50):c.2934_2935del (p.Glu979fs)
|
rs768522804
|
0.00001
|
|
NM_005732.4(RAD50):c.552-1G>A
|
rs1236278956
|
0.00001
|
|
NM_005862.3(STAG1):c.2936A>G (p.Lys979Arg)
|
rs1471479119
|
0.00001
|
|
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp)
|
rs1343295267
|
0.00001
|
|
NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys)
|
rs1085307496
|
0.00001
|
|
NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile)
|
rs781575919
|
0.00001
|
|
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter)
|
rs761320763
|
0.00001
|
|
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter)
|
rs1335076773
|
0.00001
|
|
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys)
|
rs71526458
|
0.00001
|
|
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr)
|
rs372249044
|
0.00001
|
|
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg)
|
rs777367269
|
0.00001
|
|
NM_006208.3(ENPP1):c.2608-1G>A
|
rs149828062
|
0.00001
|
|
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His)
|
rs886042002
|
0.00001
|
|
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln)
|
rs1131691266
|
0.00001
|
|
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)
|
rs780978419
|
0.00001
|
|
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)
|
rs1568617456
|
0.00001
|
|
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val)
|
rs398124225
|
0.00001
|
|
NM_006363.6(SEC23B):c.2150del (p.Ala717fs)
|
rs1334741748
|
0.00001
|
|
NM_006392.4(NOP56):c.909G>A (p.Ala303=)
|
rs1295942947
|
0.00001
|
|
NM_006424.3(SLC34A2):c.113-2A>G
|
rs1714268814
|
0.00001
|
|
NM_006565.4(CTCF):c.1168G>A (p.Asp390Asn)
|
rs750256116
|
0.00001
|
|
NM_006767.4(LZTR1):c.-38T>A
|
rs1459786357
|
0.00001
|
|
NM_006767.4(LZTR1):c.115G>T (p.Glu39Ter)
|
rs762434811
|
0.00001
|
|
NM_006767.4(LZTR1):c.1260+1G>A
|
rs143868364
|
0.00001
|
|
NM_006767.4(LZTR1):c.1365C>T (p.Cys455=)
|
rs1386837360
|
0.00001
|
|
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs)
|
rs1460026299
|
0.00001
|
|
NM_006767.4(LZTR1):c.1785+1G>A
|
rs145594158
|
0.00001
|
|
NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln)
|
rs781776791
|
0.00001
|
|
NM_006767.4(LZTR1):c.2220-17C>A
|
rs1249726034
|
0.00001
|
|
NM_006767.4(LZTR1):c.2407-2A>G
|
rs1158550690
|
0.00001
|
|
NM_006767.4(LZTR1):c.263+1G>A
|
rs761241914
|
0.00001
|
|
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)
|
rs587777177
|
0.00001
|
|
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter)
|
rs753295968
|
0.00001
|
|
NM_006767.4(LZTR1):c.482del (p.Gln161fs)
|
rs1924462309
|
0.00001
|
|
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln)
|
rs781431741
|
0.00001
|
|
NM_006767.4(LZTR1):c.516_517insT (p.Val173fs)
|
rs1472913919
|
0.00001
|
|
NM_006767.4(LZTR1):c.529del (p.Ala177fs)
|
rs558510095
|
0.00001
|
|
NM_006767.4(LZTR1):c.594-2A>G
|
rs1374011263
|
0.00001
|
|
NM_006767.4(LZTR1):c.658C>T (p.Gln220Ter)
|
rs749437251
|
0.00001
|
|
NM_006767.4(LZTR1):c.671dup (p.Ser227fs)
|
rs1351226319
|
0.00001
|
|
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)
|
rs797045165
|
0.00001
|
|
NM_006767.4(LZTR1):c.993+1G>A
|
rs770368435
|
0.00001
|
|
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His)
|
rs1598820860
|
0.00001
|
|
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp)
|
rs1283838287
|
0.00001
|
|
NM_006941.4(SOX10):c.482G>A (p.Arg161His)
|
rs750566714
|
0.00001
|
|
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
|
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys)
|
rs587780169
|
0.00001
|
|
NM_007194.4(CHEK2):c.1260-8A>G
|
rs863224747
|
0.00001
|
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
|
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter)
|
rs756949505
|
0.00001
|
|
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr)
|
rs1060502688
|
0.00001
|
|
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly)
|
rs587781652
|
0.00001
|
|
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)
|
rs72552322
|
0.00001
|
|
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile)
|
rs730881684
|
0.00001
|
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
|
NM_007214.5(SEC63):c.292C>T (p.Arg98Ter)
|
rs768568123
|
0.00001
|
|
NM_007214.5(SEC63):c.452+1G>A
|
rs869312977
|
0.00001
|
|
NM_007294.4(BRCA1):c.212+3A>G
|
rs80358083
|
0.00001
|
|
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His)
|
rs80356911
|
0.00001
|
|
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs)
|
rs80357717
|
0.00001
|
|
NM_007294.4(BRCA1):c.301+1G>T
|
rs587782173
|
0.00001
|
|
NM_007294.4(BRCA1):c.301+6T>C
|
rs753859240
|
0.00001
|
|
NM_007294.4(BRCA1):c.4185+4105C>T
|
rs1597853155
|
0.00001
|
|
NM_007294.4(BRCA1):c.442-1G>T
|
rs1351019392
|
0.00001
|
|
NM_007294.4(BRCA1):c.4674A>G (p.Leu1558=)
|
rs996042036
|
0.00001
|
|
NM_007294.4(BRCA1):c.4986+6T>C
|
rs80358086
|
0.00001
|
|
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)
|
rs80187739
|
0.00001
|
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
|
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)
|
rs41293463
|
0.00001
|
|
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro)
|
rs80357474
|
0.00001
|
|
NM_007294.4(BRCA1):c.5406+5G>T
|
rs80358073
|
0.00001
|
|
NM_007294.4(BRCA1):c.5407-25T>A
|
rs758780152
|
0.00001
|
|
NM_007294.4(BRCA1):c.5467+1G>A
|
rs80358145
|
0.00001
|
|
NM_007294.4(BRCA1):c.5467+2T>C
|
rs80358009
|
0.00001
|
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
|
NM_007327.4(GRIN1):c.1198-2del
|
rs1212517874
|
0.00001
|
|
NM_012062.5(DNM1L):c.1596+2T>A
|
rs769684495
|
0.00001
|
|
NM_012470.4(TNPO3):c.1334C>T (p.Ala445Val)
|
rs1585339231
|
0.00001
|
|
NM_012470.4(TNPO3):c.1424C>T (p.Thr475Met)
|
rs200236830
|
0.00001
|
|
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter)
|
rs144513458
|
0.00001
|
|
NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val)
|
rs1166797338
|
0.00001
|
|
NM_015338.6(ASXL1):c.1015C>T (p.Gln339Ter)
|
rs2011567269
|
0.00001
|
|
NM_015338.6(ASXL1):c.643G>A (p.Ala215Thr)
|
rs2011469389
|
0.00001
|
|
NM_015713.5(RRM2B):c.253_255del (p.Glu85del)
|
rs515726184
|
0.00001
|
|
NM_015713.5(RRM2B):c.431C>T (p.Thr144Ile)
|
rs515726189
|
0.00001
|
|
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His)
|
rs1486994359
|
0.00001
|
|
NM_016204.4(GDF2):c.329G>A (p.Arg110Gln)
|
rs1443463485
|
0.00001
|
|
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter)
|
rs781546107
|
0.00001
|
|
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys)
|
rs371352836
|
0.00001
|
|
NM_018489.3(ASH1L):c.5269C>T (p.Arg1757Ter)
|
rs1662320308
|
0.00001
|
|
NM_018896.5(CACNA1G):c.481A>T (p.Ile161Phe)
|
rs368561457
|
0.00001
|
|
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly)
|
rs104894342
|
0.00001
|
|
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)
|
rs143795581
|
0.00001
|
|
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143
|
0.00001
|
|
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp)
|
rs267606682
|
0.00001
|
|
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)
|
rs771766431
|
0.00001
|
|
NM_022124.6(CDH23):c.3820G>A (p.Glu1274Lys)
|
rs775540526
|
0.00001
|
|
NM_022124.6(CDH23):c.7814A>G (p.Asn2605Ser)
|
rs780917129
|
0.00001
|
|
NM_022336.4(EDAR):c.175-2A>G
|
rs757233170
|
0.00001
|
|
NM_022336.4(EDAR):c.973C>T (p.Arg325Trp)
|
rs755654853
|
0.00001
|
|
NM_023067.4(FOXL2):c.195G>A (p.Met65Ile)
|
rs1057516145
|
0.00001
|
|
NM_024079.5(ALG8):c.1134G>T (p.Trp378Cys)
|
rs867450807
|
0.00001
|
|
NM_024079.5(ALG8):c.368+2T>G
|
rs756894409
|
0.00001
|
|
NM_024079.5(ALG8):c.95+1G>A
|
rs1323512637
|
0.00001
|
|
NM_024079.5(ALG8):c.981dup (p.Val328fs)
|
rs777686455
|
0.00001
|
|
NM_024411.5(PDYN):c.634C>T (p.Arg212Trp)
|
rs201486601
|
0.00001
|
|
NM_024426.6(WT1):c.965+1G>A
|
rs771527206
|
0.00001
|
|
NM_024675.4(PALB2):c.3067C>T (p.Gln1023Ter)
|
rs1555459386
|
0.00001
|
|
NM_024675.4(PALB2):c.3350+5G>A
|
rs587782566
|
0.00001
|
|
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)
|
rs786203821
|
0.00001
|
|
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)
|
rs1568413644
|
0.00001
|
|
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)
|
rs575595017
|
0.00001
|
|
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)
|
rs747604569
|
0.00001
|
|
NM_032119.4(ADGRV1):c.1055C>T (p.Pro352Leu)
|
rs765574676
|
0.00001
|
|
NM_057175.5(NAA15):c.239_240del (p.His80fs)
|
rs779009256
|
0.00001
|
|
NM_058216.3(RAD51C):c.340G>A (p.Gly114Arg)
|
rs786203690
|
0.00001
|
|
NM_058216.3(RAD51C):c.404+2T>C
|
rs730881931
|
0.00001
|
|
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)
|
rs267606999
|
0.00001
|
|
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)
|
rs765730332
|
0.00001
|
|
NM_058216.3(RAD51C):c.572-2A>G
|
rs145310733
|
0.00001
|
|
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser)
|
rs201529791
|
0.00001
|
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
|
NM_058216.3(RAD51C):c.905-2A>C
|
rs779582317
|
0.00001
|
|
NM_058216.3(RAD51C):c.905-2_905-1del
|
rs587781995
|
0.00001
|
|
NM_058216.3(RAD51C):c.905-2del
|
rs876658652
|
0.00001
|
|
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)
|
rs876659874
|
0.00001
|
|
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp)
|
rs730881932
|
0.00001
|
|
NM_080680.3(COL11A2):c.1999G>A (p.Gly667Ser)
|
rs1322629595
|
0.00001
|
|
NM_080680.3(COL11A2):c.2179G>A (p.Gly727Arg)
|
rs768569721
|
0.00001
|
|
NM_080680.3(COL11A2):c.939+1G>A
|
rs750173113
|
0.00001
|
|
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln)
|
rs535885178
|
0.00001
|
|
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)
|
rs143252541
|
0.00001
|
|
NM_130837.3(OPA1):c.301C>T (p.Arg101Cys)
|
rs371943668
|
0.00001
|
|
NM_133378.4(TTN):c.49028dup (p.Asp16343fs)
|
rs397517626
|
0.00001
|
|
NM_138691.3(TMC1):c.1334G>A (p.Arg445His)
|
rs760532554
|
0.00001
|
|
NM_138691.3(TMC1):c.1810C>T (p.Arg604Ter)
|
rs777777359
|
0.00001
|
|
NM_138691.3(TMC1):c.797T>C (p.Ile266Thr)
|
rs747645756
|
0.00001
|
|
NM_138691.3(TMC1):c.884+2dup
|
rs876658020
|
0.00001
|
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
|
NM_138694.4(PKHD1):c.9230G>C (p.Trp3077Ser)
|
rs1250269841
|
0.00001
|
|
NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter)
|
rs143481438
|
0.00001
|
|
NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp)
|
rs200656442
|
0.00001
|
|
NM_144997.7(FLCN):c.1433-2A>G
|
rs398124528
|
0.00001
|
|
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)
|
rs398124529
|
0.00001
|
|
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)
|
rs879255683
|
0.00001
|
|
NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs)
|
rs753009073
|
0.00001
|
|
NM_144997.7(FLCN):c.249+5G>A
|
rs1064793127
|
0.00001
|
|
NM_144997.7(FLCN):c.779+1G>T
|
rs758175953
|
0.00001
|
|
NM_147196.3(TMIE):c.241C>T (p.Arg81Cys)
|
rs28942096
|
0.00001
|
|
NM_152594.3(SPRED1):c.305C>T (p.Thr102Met)
|
rs754706111
|
0.00001
|
|
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)
|
rs377145777
|
0.00001
|
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
|
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)
|
rs150840924
|
0.00001
|
|
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)
|
rs57830985
|
0.00001
|
|
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)
|
rs60864230
|
0.00001
|
|
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)
|
rs397517906
|
0.00001
|
|
NM_170707.4(LMNA):c.768G>A (p.Val256=)
|
rs794728593
|
0.00001
|
|
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)
|
rs201866631
|
0.00001
|
|
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)
|
rs104894378
|
0.00001
|
|
NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val)
|
rs762876554
|
0.00001
|
|
NM_182961.4(SYNE1):c.4499T>A (p.Ile1500Asn)
|
rs746438011
|
0.00001
|
|
NM_182961.4(SYNE1):c.6723+1G>C
|
rs779302145
|
0.00001
|
|
NM_194248.3(OTOF):c.4960G>A (p.Gly1654Ser)
|
rs1005694756
|
0.00001
|
|
NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys)
|
rs397515605
|
0.00001
|
|
NM_194323.3(OTOF):c.3514C>T (p.Arg1172Trp)
|
rs530821443
|
0.00001
|
|
NM_198253.3(TERT):c.1700C>T (p.Thr567Met)
|
rs886039438
|
0.00001
|
|
NM_198253.3(TERT):c.2005C>T (p.Arg669Trp)
|
rs372140951
|
0.00001
|
|
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)
|
rs1060503011
|
0.00001
|
|
NM_198253.3(TERT):c.2080G>A (p.Val694Met)
|
rs121918662
|
0.00001
|
|
NM_198253.3(TERT):c.2105C>T (p.Pro702Leu)
|
rs754809046
|
0.00001
|
|
NM_198253.3(TERT):c.2227C>T (p.Arg743Trp)
|
rs1388515349
|
0.00001
|
|
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)
|
rs1422814635
|
0.00001
|
|
NM_198253.3(TERT):c.2851C>T (p.Arg951Trp)
|
rs370445231
|
0.00001
|
|
NM_198994.3(TGM6):c.1005G>A (p.Trp335Ter)
|
rs750743855
|
0.00001
|
|
NM_203290.4(POLR1C):c.70-1G>A
|
rs886041661
|
0.00001
|
|
NM_203290.4(POLR1C):c.938C>T (p.Thr313Met)
|
rs181576159
|
0.00001
|
|
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
|
|
|
|
GRCh37/hg19 15q15.1(chr15:42681074-42684971)x1
|
|
|
|
GRCh37/hg19 15q21.1(chr15:48703187-48714265)
|
|
|
|
GRCh37/hg19 15q21.1(chr15:48703187-48766574)
|
|
|
|
GRCh37/hg19 15q21.1(chr15:48720543-48730114)
|
|
|
|
GRCh37/hg19 15q21.1(chr15:48722868-48726910)
|
|
|
|
GRCh37/hg19 15q21.1(chr15:48725063-48784783)
|
|
|
|
GRCh37/hg19 15q21.1(chr15:48725063-48892431)
|
|
|
|
GRCh37/hg19 15q21.1(chr15:48736739-48736857)
|
|
|
|
GRCh37/hg19 15q21.1(chr15:48777571-48791235)
|
|
|
|
GRCh37/hg19 15q21.1(chr15:48782048-48782275)
|
|
|
|
GRCh37/hg19 15q21.1(chr15:48789463-48791235)
|
|
|
|
GRCh37/hg19 17q21.31(chr17:41199581-41231493)x4
|
|
|
|
GRCh37/hg19 17q21.31(chr17:41251742-41267846)x3
|
|
|
|
GRCh37/hg19 19q13.33(chr19:48185250-48245216)x1
|
|
|
|
GRCh37/hg19 2q23.1(chr2:149220152-149633312)
|
|
|
|
GRCh37/hg19 2q31.2(chr2:179403525-179655493)
|
|
|
|
GRCh37/hg19 3p25.3(chr3:9482141-9490314)
|
|
|
|
GRCh37/hg19 3p26.1(chr3:4669445-4859925)x1
|
|
|
|
GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1
|
|
|
|
GRCh37/hg19 3q29(chr3:193343827-194599635)x1
|
|
|
|
GRCh37/hg19 4q22.1(chr4:88973122-88979275)
|
|
|
|
GRCh37/hg19 4q31.1(chr4:140187697-140394334)x1
|
|
|
|
GRCh38/hg38 3q22.2-22.3(chr3:135343568-136642002)x1
|
|
|
|
GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1
|
|
|
|
GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1
|
|
|
|
NC_000001.10:g.(103388956_103400026)_(104094395_?)del
|
|
|
|
NC_000001.10:g.(?_218578491)_(218614704_?)del
|
|
|
|
NC_000001.10:g.(?_218578501)_(218610848_?)del
|
|
|
|
NC_000001.10:g.(?_236631511)_(236631596_?)dup
|
|
|
|
NC_000001.11:g.(?_218405159)_(218405342_?)dup
|
|
|
|
NC_000001.11:g.(?_218405159)_(218444629_?)del
|
|
|
|
NC_000001.11:g.(?_218435960)_(218437506_?)del
|
|
|
|
NC_000001.11:g.(?_218441194)_(218444629_?)del
|
|
|
|
NC_000001.11:g.161305808_161309983dup
|
|
|
|
NC_000002.11:g.(?_149267619)_(149267714_?)dup
|
|
|
|
NC_000002.11:g.(?_179296824)_(179502166_?)dup
|
|
|
|
NC_000002.11:g.(?_179296824)_(179518254_?)del
|
|
|
|
NC_000002.11:g.(?_179398234)_(179517183_?)del
|
|
|
|
NC_000002.11:g.(?_179402448)_(179404297_?)del
|
|
|
|
NC_000002.11:g.(?_179404280)_(179552552_?)del
|
|
|
|
NC_000002.11:g.(?_179405446)_(179408110_?)del
|
|
|
|
NC_000002.11:g.(?_179407899)_(179439276_?)del
|
|
|
|
NC_000002.11:g.(?_179419384)_(179419787_?)dup
|
|
|
|
NC_000002.11:g.(?_179419793)_(179515001_?)del
|
|
|
|
NC_000002.11:g.(?_179423747)_(179424505_?)del
|
|
|
|
NC_000002.11:g.(?_179424791)_(179429241_?)del
|
|
|
|
NC_000002.11:g.(?_179425803)_(179544953_?)del
|
|
|
|
NC_000002.11:g.(?_179425856)_(179596206_?)del
|
|
|
|
NC_000002.11:g.(?_179426336)_(179569921_?)del
|
|
|
|
NC_000002.11:g.(?_179442353)_(179446814_?)del
|
|
|
|
NC_000002.11:g.(?_179443318)_(179669369_?)del
|
|
|
|
NC_000002.11:g.(?_179459938)_(179462498_?)del
|
|
|
|
NC_000002.11:g.(?_179460406)_(179462893_?)del
|
|
|
|
NC_000002.11:g.(?_179476063)_(179485304_?)del
|
|
|
|
NC_000002.11:g.(?_179612393)_(179642433_?)del
|
|
|
|
NC_000002.11:g.(?_189839206)_(189950508_?)del
|
|
|
|
NC_000002.11:g.(?_189852801)_(189855789_?)dup
|
|
|
|
NC_000002.11:g.(?_189852807)_(189855783_?)dup
|
|
|
|
NC_000002.11:g.(?_189913190)_(189918176_?)del
|
|
|
|
NC_000002.11:g.(?_200213424)_(200246543_?)dup
|
|
|
|
NC_000002.11:g.(?_200320572)_(200320780_?)dup
|
|
|
|
NC_000002.11:g.(?_47690170)_(47708011_?)del
|
|
|
|
NC_000002.12:g.(47369582_47373462)_(47386613_?)del
|
|
|
|
NC_000002.12:g.(47369582_47373462)_(47386896_?)del
|
|
|
|
NC_000002.12:g.(?_178528254)_(178544135_?)del
|
|
|
|
NC_000002.12:g.(?_199380344)_(199433534_?)dup
|
|
|
|
NC_000002.12:g.(?_47612305)_(47643568_?)del
|
|
|
|
NC_000002.12:g.(?_47614711)_(47657080_?)del
|
|
|
|
NC_000002.12:g.178784352del
|
rs2154350831
|
|
|
NC_000003.11:g.(41241162_41265511)_(41268844_41274831)del
|
|
|
|
NC_000003.11:g.(?_69987065)_(69997137_?)del
|
|
|
|
NC_000003.12:g.(?_122282103)_(122285191_?)del
|
|
|
|
NC_000003.12:g.(?_37011820)_(37017599_?)del
|
|
|
|
NC_000003.12:g.(?_37040183)_(37063791_?)del
|
|
|
|
NC_000004.11:g.(88940724_88957371)_(88957506_88959402)del
|
|
|
|
NC_000005.10:g.(?_150396282)_(150399070_?)del
|
|
|
|
NC_000005.10:g.(?_150399002)_(150399068_?)del
|
|
|
|
NC_000005.9:g.(?_1282524)_(1282759_?)dup
|
|
|
|
NC_000005.9:g.(?_131892615)_(131980314_?)del
|
|
|
|
NC_000006.11:g.(152861157_152949399)_(152949690_152957772)del
|
|
|
|
NC_000006.11:g.(?_152466612)_(152643033_?)dup
|
|
|
|
NC_000006.11:g.(?_152570395)_(152837167_?)del
|
|
|
|
NC_000006.11:g.(?_152652198)_(152658654_?)del
|
|
|
|
NC_000006.11:g.(?_152716631)_(152765733_?)dup
|
|
|
|
NC_000006.11:g.(?_33393555)_(33393700_?)dup
|
|
|
|
NC_000006.12:g.(?_10398710)_(10415642_?)del
|
|
|
|
NC_000007.13:g.(?_128475370)_(128478867_?)del
|
|
|
|
NC_000007.13:g.(?_128480199)_(128481774_?)del
|
|
|
|
NC_000008.10:g.(?_116613171)_(116616277_?)del
|
|
|
|
NC_000009.11:g.(?_130578190)_(130592112_?)dup
|
|
|
|
NC_000009.11:g.(?_130586563)_(130592126_?)dup
|
|
|
|
NC_000009.11:g.(?_130586573)_(130592116_?)del
|
|
|
|
NC_000009.11:g.(?_130587069)_(130592116_?)dup
|
|
|
|
NC_000009.11:g.(?_130605373)_(130605524_?)dup
|
|
|
|
NC_000009.11:g.(?_135778117)_(135779381_?)del
|
|
|
|
NC_000009.11:g.(?_137582738)_(137593199_?)dup
|
|
|
|
NC_000009.11:g.(?_137617195)_(137619147_?)del
|
|
|
|
NC_000009.11:g.(?_137676815)_(137677914_?)del
|
|
|
|
NC_000009.11:g.(?_98231088)_(98232163_?)del
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NC_000009.11:g.(?_98238306)_(98238451_?)del
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NC_000009.11:g.(?_98240426)_(98242927_?)del
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NC_000009.11:g.(?_98241272)_(98248166_?)dup
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NC_000009.12:g.(?_127824284)_(127824994_?)del
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NC_000009.12:g.(?_127824284)_(127829847_?)del
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NC_000009.12:g.(?_127824294)_(127825367_?)dup
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NC_000009.12:g.(?_127824294)_(127826683_?)del
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NC_000009.12:g.(?_134834951)_(134835224_?)del
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NC_000009.12:g.(?_95456266)_(95459793_?)del
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NC_000010.10:g.(?_102510431)_(102510668_?)del
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NC_000010.10:g.(?_102539235)_(102569013_?)dup
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NC_000010.10:g.(?_102566167)_(102566382_?)dup
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NC_000010.10:g.(?_104352329)_(104377195_?)dup
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NC_000010.10:g.(?_89653180)_(89653844_?)del
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NC_000010.10:g.(?_89653772)_(89653876_?)dup
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NC_000010.10:g.(?_89685260)_(89693018_?)dup
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NC_000010.10:g.(?_89711865)_(89712026_?)dup
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NC_000010.10:g.(?_89717600)_(89717786_?)dup
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NC_000010.10:g.(?_89725034)_(89725321_?)del
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NC_000010.11:g.(?_59792917)_(68231677_?)del
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NC_000010.11:g.(?_86755016)_(86756919_?)del
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NC_000010.11:g.(?_86755016)_(86757045_?)del
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NC_000010.11:g.(?_86838866)_(86838981_?)del
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NC_000010.11:g.(?_86838866)_(86843510_?)del
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NC_000010.11:g.(?_86912230)_(86919479_?)del
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NC_000010.11:g.(?_87952108)_(87958029_?)del
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NC_000010.11:g.87965287del
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rs2132289111
|
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NC_000011.10:g.77198597_77198604delinsCA
|
rs111033259
|
|
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NC_000011.9:g.(?_111959651)_(111960112_?)del
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NC_000013.10:g.(32921034_32928997)_(32945238_32950806)dup
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|
NC_000013.10:g.(32921034_32928997)_(32954283_32968825)dup
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NC_000013.10:g.(32937671_32944538)_(32944695_32945092)del
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NC_000013.10:g.(32937671_32944538)_(32945238_32950806)dup
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NC_000013.10:g.(32944695_32945092)_(32945238_32950806)dup
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NC_000013.10:g.(?_32893194)_(32903649_?)dup
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NC_000013.10:g.(?_32900637)_(32901212_?)del
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NC_000013.10:g.(?_32908767)_(32914690_?)del
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NC_000013.10:g.(?_32910338)_(32915062_?)del
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NC_000013.10:g.(?_32911898)_(32932452_?)del
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NC_000013.10:g.(?_32911939)_(32918919_?)del
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NC_000013.10:g.(?_32913814)_(32921386_?)del
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NC_000013.10:g.(?_32913817)_(32921389_?)del
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NC_000013.10:g.(?_32915303)_(32916862_?)del
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NC_000013.10:g.(?_32918675)_(32921053_?)dup
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NC_000013.10:g.(?_32920944)_(32921053_?)dup
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NC_000013.10:g.(?_32928978)_(32945257_?)dup
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NC_000013.10:g.(?_32928978)_(32954302_?)dup
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NC_000013.10:g.(?_32928992)_(32954288_?)dup
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NC_000013.10:g.(?_32930545)_(32944714_?)dup
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NC_000013.10:g.(?_32930559)_(32937676_?)dup
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NC_000013.10:g.(?_32930712)_(32933142_?)del
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NC_000013.10:g.(?_32936534)_(32936850_?)del
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NC_000013.10:g.(?_32936534)_(32937690_?)dup
|
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NC_000013.10:g.(?_32936534)_(32945257_?)dup
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|
NC_000013.10:g.(?_32944519)_(32945257_?)dup
|
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NC_000013.10:g.(?_32944533)_(32945243_?)dup
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NC_000013.10:g.(?_32944608)_(32946774_?)del
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NC_000013.10:g.(?_32945087)_(32945243_?)dup
|
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NC_000013.10:g.32953528_32953529insAlu
|
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|
NC_000013.11:g.(32357930_32362522)_(32376792_32379316)del
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|
NC_000013.11:g.(?_32354855)_(32357935_?)del
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NC_000013.11:g.(?_32356408)_(32357949_?)dup
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NC_000013.11:g.(?_32370936)_(32371120_?)dup
|
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|
NC_000013.11:g.32337455dup
|
rs886040460
|
|
|
NC_000013.11:g.32339717_32339718delinsA
|
rs1566232310
|
|
|
NC_000014.8:g.(?_76425530)_(76432058_?)del
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NC_000014.9:g.(?_75958692)_(75965705_?)del
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NC_000014.9:g.(?_75958692)_(75971728_?)del
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NC_000015.10:g.(48494255_48495122)_(48499039_48503786)del
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NC_000015.10:g.(?_48410980)_(48411389_?)del
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NC_000015.10:g.(?_48444521)_(48445524_?)del
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NC_000015.10:g.(?_48470634)_(48470756_?)del
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NC_000015.10:g.(?_48596273)_(48613102_?)dup
|
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|
NC_000015.10:g.48434694_48434695delinsC
|
rs397515834
|
|
|
NC_000015.10:g.48437317C>T
|
rs1085307875
|
|
|
NC_000015.10:g.48610805_48610806delinsG
|
rs397515778
|
|
|
NC_000015.9:g.(?_48704746)_(48713023_?)dup
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|
NC_000015.9:g.(?_48762825)_(48762959_?)del
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NC_000015.9:g.(?_48812836)_(48905309_?)dup
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|
NC_000015.9:g.(?_48888460)_(48905309_?)dup
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NC_000016.10:g.(?_2076471)_(2085342_?)del
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NC_000016.10:g.(?_3744874)_(3758992_?)del
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NC_000016.10:g.2055492_2070804dup
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NC_000016.10:g.89274957_89274959del
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|
NC_000016.9:g.(23614991_23619184)_(23619334_23625324)dup
|
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|
NC_000016.9:g.(23614991_23619184)_(23625413_23632682)del
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|
NC_000016.9:g.(?_2110464)_(2111943_?)del
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NC_000016.9:g.(?_2110665)_(2113060_?)del
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NC_000016.9:g.(?_2131020)_(2133730_?)del
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NC_000016.9:g.(?_2133686)_(2138611_?)del
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NC_000016.9:g.(?_2135165)_(2138160_?)del
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NC_000016.9:g.(?_3786017)_(3786836_?)dup
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NC_000016.9:g.(?_3786631)_(3790570_?)dup
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NC_000016.9:g.(?_3829526)_(3830870_?)del
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|
NC_000016.9:g.(?_89346276)_(89348939_?)del
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|
NC_000016.9:g.2155486_2155487ins2145304_2155487inv
|
|
|
|
NC_000017.10:g.(41199721_41201137)_(41203135_41209068)dup
|
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|
NC_000017.10:g.(41209153_41215349)_(41228632_41234420)dup
|
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|
NC_000017.10:g.(41223256_41226347)_(41258551_41267742)del
|
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|
NC_000017.10:g.(41228632_41234420)_(41234593_41242960)dup
|
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|
NC_000017.10:g.(41247940_41249260)_(41256279_41256884)del
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|
NC_000017.10:g.(41247940_41249260)_41251831del
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|
NC_000017.10:g.(56780691_56787219)_(56801462_56809844)dup
|
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|
NC_000017.10:g.(?_29475515)_(29490414_?)dup
|
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|
NC_000017.10:g.(?_29482991)_(29548957_?)dup
|
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|
NC_000017.10:g.(?_29490395)_(29491750_?)del
|
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NC_000017.10:g.(?_29508426)_(29510472_?)dup
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NC_000017.10:g.(?_29540877)_(29563299_?)dup
|
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|
NC_000017.10:g.(?_29541449)_(29557963_?)dup
|
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|
NC_000017.10:g.(?_29553439)_(29557002_?)dup
|
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|
NC_000017.10:g.(?_29556023)_(29563059_?)dup
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NC_000017.10:g.(?_29556414)_(29622646_?)del
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NC_000017.10:g.(?_29556977)_(29561861_?)del
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NC_000017.10:g.(?_29557300)_(29559486_?)del
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NC_000017.10:g.(?_29558432)_(29559785_?)del
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NC_000017.10:g.(?_29562619)_(29563299_?)dup
|
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NC_000017.10:g.(?_29575982)_(29587553_?)del
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NC_000017.10:g.(?_29575982)_(29662069_?)dup
|
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NC_000017.10:g.(?_29575992)_(29587543_?)del
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NC_000017.10:g.(?_29585352)_(29588885_?)dup
|
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|
NC_000017.10:g.(?_29585352)_(29670163_?)dup
|
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|
NC_000017.10:g.(?_29645324)_(29653290_?)dup
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|
NC_000017.10:g.(?_29652818)_(29679452_?)dup
|
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|
NC_000017.10:g.(?_29652828)_(29657526_?)dup
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|
NC_000017.10:g.(?_29663341)_(29665833_?)del
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NC_000017.10:g.(?_29679379)_(29680920_?)del
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NC_000017.10:g.(?_33427467)_(33428227_?)del
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NC_000017.10:g.(?_33427972)_(33428065_?)del
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|
NC_000017.10:g.(?_33427972)_(33428404_?)del
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|
NC_000017.10:g.(?_41197728)_(41202245_?)del
|
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|
NC_000017.10:g.(?_41199640)_(41203154_?)dup
|
|
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|
NC_000017.10:g.(?_41201118)_(41203154_?)dup
|
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|
NC_000017.10:g.(?_41209048)_(41209172_?)dup
|
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|
NC_000017.10:g.(?_41209048)_(41215988_?)dup
|
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|
NC_000017.10:g.(?_41209049)_(41209172_?)dup
|
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|
NC_000017.10:g.(?_41209049)_(41215988_?)dup
|
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|
NC_000017.10:g.(?_41209063)_(41209158_?)dup
|
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|
NC_000017.10:g.(?_41215330)_(41223340_?)dup
|
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|
NC_000017.10:g.(?_41226531)_(41230159_?)del
|
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|
NC_000017.10:g.(?_41228505)_(41234592_?)dup
|
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|
NC_000017.10:g.(?_41234401)_(41258570_?)dup
|
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|
NC_000017.10:g.(?_41234415)_(41258556_?)dup
|
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|
NC_000017.10:g.(?_41242941)_(41249326_?)dup
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|
NC_000017.10:g.(?_41245526)_(41252711_?)del
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|
NC_000017.10:g.(?_41247857)_(41251903_?)del
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|
NC_000017.10:g.(?_41247884)_(41252753_?)del
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|
NC_000017.10:g.(?_41249241)_(41251921_?)dup
|
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|
NC_000017.10:g.(?_41249860)_(41256183_?)del
|
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|
NC_000017.10:g.(?_41249867)_(41256183_?)del
|
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|
NC_000017.10:g.(?_41251772)_(41251917_?)dup
|
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|
|
NC_000017.10:g.(?_41251772)_(41251921_?)dup
|
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|
|
NC_000017.10:g.(?_41251772)_(41258570_?)dup
|
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|
|
NC_000017.10:g.(?_41251772)_(41267816_?)dup
|
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|
NC_000017.10:g.(?_41256119)_(41258570_?)dup
|
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|
NC_000017.10:g.(?_41256119)_(41267816_?)dup
|
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|
|
NC_000017.10:g.(?_41267737)_(41267802_?)dup
|
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|
NC_000017.10:g.(?_66518887)_(66519077_?)del
|
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|
NC_000017.10:g.(?_7571752)_(7573018_?)del
|
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|
NC_000017.10:g.(?_7577567)_(7577721_?)del
|
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|
NC_000017.10:g.(?_7578171)_(7579918_?)dup
|
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|
NC_000017.11:g.(?_17223916)_(17224149_?)del
|
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|
NC_000017.11:g.(?_31169881)_(31249129_?)dup
|
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|
NC_000017.11:g.(?_31248964)_(31352434_?)dup
|
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|
NC_000017.11:g.(?_31248974)_(31352424_?)dup
|
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|
NC_000017.11:g.(?_31336313)_(31340665_?)del
|
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|
NC_000017.11:g.(?_31342999)_(31360713_?)del
|
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|
NC_000017.11:g.(?_35100943)_(35101046_?)del
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|
NC_000017.11:g.(?_35100947)_(35101042_?)del
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|
NC_000017.11:g.(?_43070908)_(43071258_?)dup
|
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|
NC_000017.11:g.(?_43074311)_(43082595_?)dup
|
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|
NC_000017.11:g.(?_43076468)_(43082595_?)dup
|
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|
NC_000017.11:g.(?_43090924)_(43099904_?)del
|
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|
NC_000017.11:g.(?_43090924)_(43115799_?)dup
|
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|
NC_000017.11:g.(?_43106450)_(43106539_?)del
|
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|
NC_000017.11:g.(?_43115706)_(43115799_?)dup
|
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|
NC_000017.11:g.(?_7668402)_(7669690_?)del
|
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|
NC_000017.11:g.(?_7669599)_(7669700_?)del
|
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|
NC_000017.11:g.(?_7669599)_(7670725_?)del
|
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|
NC_000017.11:g.(?_7669603)_(7670721_?)del
|
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|
NC_000017.11:g.(?_7674811)_(7676594_?)dup
|
|
|
|
NC_000017.11:g.(?_7674849)_(7676604_?)dup
|
|
|
|
NC_000017.11:g.(?_7687377)_(7687550_?)del
|
|
|
|
NC_000017.11:g.59664787del
|
rs1598226304
|
|
|
NC_000017.11:g.59679324_59702065del
|
|
|
|
NC_000019.10:g.45529163G>A
|
rs1555730159
|
|
|
NC_000019.9:g.(?_46056772)_(46057189_?)del
|
|
|
|
NC_000020.10:g.(?_50400804)_(50401243_?)del
|
|
|
|
NC_000021.8:g.(?_38868400)_(38884854_?)del
|
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|
|
NC_000021.9:g.(?_37492997)_(37493183_?)del
|
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|
NC_000022.10:g.(?_30035073)_(30035207_?)del
|
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|
NC_000022.10:g.(?_30064316)_(30067943_?)del
|
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|
|
NC_000022.10:g.(?_30074175)_(30077600_?)del
|
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|
|
NC_000022.10:g.(?_30077422)_(30077596_?)dup
|
|
|
|
NC_000022.10:g.(?_41531797)_(41566595_?)dup
|
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|
NC_000022.10:g.(?_41566450)_(41572658_?)del
|
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|
NC_000022.11:g.(?_29639090)_(29639212_?)del
|
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|
NC_000022.11:g.(?_29668333)_(29671948_?)del
|
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|
|
NC_000022.11:g.(?_29671816)_(29671958_?)del
|
|
|
|
NC_000023.10:g.(?_2873437)_(2876496_?)dup
|
|
|
|
NC_012920.1(MT-CO3):m.9478T>C
|
rs587776437
|
|
|
NG_005905.2:g.(111529_113027)_(147057_150288)del
|
|
|
|
NG_005905.2:g.(141497_143462)_(154111_154610)dup
|
|
|
|
NG_005905.2:g.(92714_93868)_(173690_?)del
|
|
|
|
NM_000020.3(ACVRL1):c.1004A>G (p.Asn335Ser)
|
rs1060503247
|
|
|
NM_000020.3(ACVRL1):c.1004A>T (p.Asn335Ile)
|
rs1060503247
|
|
|
NM_000020.3(ACVRL1):c.1007T>A (p.Val336Glu)
|
rs1565594467
|
|
|
NM_000020.3(ACVRL1):c.100dup (p.Cys34fs)
|
rs1555152440
|
|
|
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro)
|
rs1592224349
|
|
|
NM_000020.3(ACVRL1):c.1010T>G (p.Leu337Arg)
|
|
|
|
NM_000020.3(ACVRL1):c.1030_1048+18del
|
rs1940812948
|
|
|
NM_000020.3(ACVRL1):c.1036_1040del (p.Ile346fs)
|
rs1565594524
|
|
|
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr)
|
rs1940813707
|
|
|
NM_000020.3(ACVRL1):c.1039G>C (p.Ala347Pro)
|
|
|
|
NM_000020.3(ACVRL1):c.1044C>G (p.Asp348Glu)
|
|
|
|
NM_000020.3(ACVRL1):c.1048+5G>A
|
|
|
|
NM_000020.3(ACVRL1):c.1048G>A (p.Gly350Ser)
|
|
|
|
NM_000020.3(ACVRL1):c.1049-1G>A
|
rs1060503242
|
|
|
NM_000020.3(ACVRL1):c.1049-1G>T
|
rs1060503242
|
|
|
NM_000020.3(ACVRL1):c.1055C>T (p.Ala352Val)
|
|
|
|
NM_000020.3(ACVRL1):c.1120C>G (p.Arg374Gly)
|
rs28936401
|
|
|
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)
|
rs28936401
|
|
|
NM_000020.3(ACVRL1):c.1121G>C (p.Arg374Pro)
|
rs1060503248
|
|
|
NM_000020.3(ACVRL1):c.1124A>T (p.Tyr375Phe)
|
rs1085307416
|
|
|
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
|
|
|
|
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser)
|
rs959973779
|
|
|
NM_000020.3(ACVRL1):c.1133C>G (p.Pro378Arg)
|
rs1940833669
|
|
|
NM_000020.3(ACVRL1):c.1136A>G (p.Glu379Gly)
|
|
|
|
NM_000020.3(ACVRL1):c.1136A>T (p.Glu379Val)
|
|
|
|
NM_000020.3(ACVRL1):c.1142T>C (p.Leu381Pro)
|
rs1085307417
|
|
|
NM_000020.3(ACVRL1):c.1157G>C (p.Arg386Pro)
|
|
|
|
NM_000020.3(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn)
|
rs1592225036
|
|
|
NM_000020.3(ACVRL1):c.1190A>T (p.Asp397Val)
|
rs1592225044
|
|
|
NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg)
|
rs1085307418
|
|
|
NM_000020.3(ACVRL1):c.1198G>A (p.Ala400Thr)
|
|
|
|
NM_000020.3(ACVRL1):c.1198G>C (p.Ala400Pro)
|
rs2139076978
|
|
|
NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp)
|
rs2139076990
|
|
|
NM_000020.3(ACVRL1):c.1204G>A (p.Gly402Ser)
|
rs1555153354
|
|
|
NM_000020.3(ACVRL1):c.1218G>T (p.Trp406Cys)
|
rs2139077046
|
|
|
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys)
|
rs1057521203
|
|
|
NM_000020.3(ACVRL1):c.122G>A (p.Cys41Tyr)
|
rs1184716348
|
|
|
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)
|
rs121909287
|
|
|
NM_000020.3(ACVRL1):c.1231_1246+4dup
|
rs1940838178
|
|
|
NM_000020.3(ACVRL1):c.1246+5G>A
|
rs1940838881
|
|
|
NM_000020.3(ACVRL1):c.1247-1G>C
|
rs2139083899
|
|
|
NM_000020.3(ACVRL1):c.1247-2A>G
|
|
|
|
NM_000020.3(ACVRL1):c.1252G>A (p.Val418Met)
|
rs753480401
|
|
|
NM_000020.3(ACVRL1):c.1261T>A (p.Tyr421Asn)
|
|
|
|
NM_000020.3(ACVRL1):c.1270C>A (p.Pro424Thr)
|
rs1085307419
|
|
|
NM_000020.3(ACVRL1):c.1270C>G (p.Pro424Ala)
|
rs1085307419
|
|
|
NM_000020.3(ACVRL1):c.1298C>A (p.Pro433His)
|
rs1940907270
|
|
|
NM_000020.3(ACVRL1):c.1313T>C (p.Met438Thr)
|
rs1555153828
|
|
|
NM_000020.3(ACVRL1):c.1334_1335del (p.Asp445fs)
|
rs2139084307
|
|
|
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu)
|
rs2139084385
|
|
|
NM_000020.3(ACVRL1):c.1359_1360delinsT (p.Arg454fs)
|
|
|
|
NM_000020.3(ACVRL1):c.1362del (p.Leu455fs)
|
|
|
|
NM_000020.3(ACVRL1):c.1376del (p.Pro459fs)
|
|
|
|
NM_000020.3(ACVRL1):c.1377+1G>A
|
rs863223406
|
|
|
NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser)
|
rs1555152454
|
|
|
NM_000020.3(ACVRL1):c.1414T>C (p.Trp472Arg)
|
|
|
|
NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg)
|
rs1940955941
|
|
|
NM_000020.3(ACVRL1):c.1435C>G (p.Arg479Gly)
|
|
|
|
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)
|
rs1057517944
|
|
|
NM_000020.3(ACVRL1):c.1438C>A (p.Leu480Ile)
|
|
|
|
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del)
|
rs1940959480
|
|
|
NM_000020.3(ACVRL1):c.1459A>C (p.Lys487Gln)
|
rs1940959530
|
|
|
NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr)
|
rs1085307428
|
|
|
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro)
|
rs1057523573
|
|
|
NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg)
|
rs1555152468
|
|
|
NM_000020.3(ACVRL1):c.148T>G (p.Trp50Gly)
|
rs1555152468
|
|
|
NM_000020.3(ACVRL1):c.151T>A (p.Cys51Ser)
|
|
|
|
NM_000020.3(ACVRL1):c.151T>G (p.Cys51Gly)
|
rs2139064874
|
|
|
NM_000020.3(ACVRL1):c.180del (p.Arg61fs)
|
|
|
|
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)
|
rs863223414
|
|
|
NM_000020.3(ACVRL1):c.200G>C (p.Arg67Pro)
|
rs863223414
|
|
|
NM_000020.3(ACVRL1):c.205T>G (p.Cys69Gly)
|
|
|
|
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe)
|
rs1318118188
|
|
|
NM_000020.3(ACVRL1):c.244dup (p.Thr82fs)
|
|
|
|
NM_000020.3(ACVRL1):c.265T>G (p.Cys89Gly)
|
rs1555152520
|
|
|
NM_000020.3(ACVRL1):c.266G>T (p.Cys89Phe)
|
rs1060503234
|
|
|
NM_000020.3(ACVRL1):c.267C>G (p.Cys89Trp)
|
rs1592221930
|
|
|
NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr)
|
rs863223410
|
|
|
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)
|
rs556168617
|
|
|
NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp)
|
|
|
|
NM_000020.3(ACVRL1):c.286A>G (p.Asn96Asp)
|
rs2139065803
|
|
|
NM_000020.3(ACVRL1):c.404del (p.Leu135fs)
|
|
|
|
NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)
|
|
|
|
NM_000020.3(ACVRL1):c.525+3A>T
|
|
|
|
NM_000020.3(ACVRL1):c.526G>T (p.Asp176Tyr)
|
|
|
|
NM_000020.3(ACVRL1):c.557G>T (p.Ser186Ile)
|
rs1288729113
|
|
|
NM_000020.3(ACVRL1):c.55dup (p.Thr19fs)
|
|
|
|
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro)
|
rs1555152790
|
|
|
NM_000020.3(ACVRL1):c.590C>G (p.Thr197Arg)
|
|
|
|
NM_000020.3(ACVRL1):c.61+1G>A
|
|
|
|
NM_000020.3(ACVRL1):c.61+1G>T
|
|
|
|
NM_000020.3(ACVRL1):c.62-2A>G
|
|
|
|
NM_000020.3(ACVRL1):c.625+1G>A
|
|
|
|
NM_000020.3(ACVRL1):c.626-1G>T
|
|
|
|
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)
|
rs28936687
|
|
|
NM_000020.3(ACVRL1):c.632G>T (p.Gly211Val)
|
|
|
|
NM_000020.3(ACVRL1):c.641G>T (p.Gly214Val)
|
|
|
|
NM_000020.3(ACVRL1):c.686A>G (p.Lys229Arg)
|
|
|
|
NM_000020.3(ACVRL1):c.686A>T (p.Lys229Met)
|
rs1940782891
|
|
|
NM_000020.3(ACVRL1):c.687G>C (p.Lys229Asn)
|
rs1940782986
|
|
|
NM_000020.3(ACVRL1):c.688A>T (p.Ile230Phe)
|
|
|
|
NM_000020.3(ACVRL1):c.689TCT[1] (p.Phe231del)
|
|
|
|
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)
|
rs762773076
|
|
|
NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser)
|
rs1555152966
|
|
|
NM_000020.3(ACVRL1):c.773-3C>G
|
rs1592223964
|
|
|
NM_000020.3(ACVRL1):c.788A>T (p.Asp263Val)
|
|
|
|
NM_000020.3(ACVRL1):c.812C>A (p.Thr271Lys)
|
rs2139072795
|
|
|
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro)
|
rs1085307409
|
|
|
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)
|
rs750085854
|
|
|
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg)
|
rs750085854
|
|
|
NM_000020.3(ACVRL1):c.830C>T (p.Thr277Met)
|
|
|
|
NM_000020.3(ACVRL1):c.848G>T (p.Gly283Val)
|
rs1940804461
|
|
|
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe)
|
rs768643771
|
|
|
NM_000020.3(ACVRL1):c.852_853del (p.Tyr286fs)
|
|
|
|
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe)
|
rs1085307410
|
|
|
NM_000020.3(ACVRL1):c.863T>C (p.Phe288Ser)
|
rs1940804969
|
|
|
NM_000020.3(ACVRL1):c.889del (p.His297fs)
|
rs1060503245
|
|
|
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro)
|
rs1565594217
|
|
|
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe)
|
rs1555153126
|
|
|
NM_000020.3(ACVRL1):c.916G>C (p.Ala306Pro)
|
rs1940807179
|
|
|
NM_000020.3(ACVRL1):c.916_917insTCA (p.Ala306delinsValThr)
|
rs1940807412
|
|
|
NM_000020.3(ACVRL1):c.931G>C (p.Ala311Pro)
|
rs565262730
|
|
|
NM_000020.3(ACVRL1):c.935A>C (p.His312Pro)
|
|
|
|
NM_000020.3(ACVRL1):c.940C>A (p.His314Asn)
|
rs1565594311
|
|
|
NM_000020.3(ACVRL1):c.968A>C (p.Lys323Thr)
|
|
|
|
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr)
|
rs1592224291
|
|
|
NM_000020.3(ACVRL1):c.983A>G (p.His328Arg)
|
|
|
|
NM_000020.3(ACVRL1):c.988G>C (p.Asp330His)
|
|
|
|
NM_000020.3(ACVRL1):c.994A>G (p.Lys332Glu)
|
rs2139073925
|
|
|
NM_000020.3(ACVRL1):c.995A>G (p.Lys332Arg)
|
rs2139073933
|
|
|
NM_000020.3(ACVRL1):c.997A>T (p.Ser333Cys)
|
rs2139073944
|
|
|
NM_000020.3(ACVRL1):c.999C>G (p.Ser333Arg)
|
rs1453780248
|
|
|
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)
|
rs63750687
|
|
|
NM_000021.4(PSEN1):c.1177G>T (p.Val393Phe)
|
rs1566656702
|
|
|
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe)
|
rs63751316
|
|
|
NM_000021.4(PSEN1):c.1270C>G (p.Leu424Val)
|
rs1555358260
|
|
|
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)
|
rs63751223
|
|
|
NM_000021.4(PSEN1):c.1297C>T (p.Pro433Ser)
|
rs1566657804
|
|
|
NM_000021.4(PSEN1):c.1301C>T (p.Ala434Val)
|
|
|
|
NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala)
|
|
|
|
NM_000021.4(PSEN1):c.252G>C (p.Met84Ile)
|
|
|
|
NM_000021.4(PSEN1):c.257T>G (p.Phe86Cys)
|
rs1594998354
|
|
|
NM_000021.4(PSEN1):c.308T>A (p.Val103Asp)
|
|
|
|
NM_000021.4(PSEN1):c.308T>G (p.Val103Gly)
|
rs1897876766
|
|
|
NM_000021.4(PSEN1):c.338+7A>G
|
rs1897878139
|
|
|
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)
|
rs63751399
|
|
|
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)
|
rs63750450
|
|
|
NM_000021.4(PSEN1):c.350C>T (p.Pro117Leu)
|
rs63749805
|
|
|
NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile)
|
rs1566630791
|
|
|
NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp)
|
rs63750353
|
|
|
NM_000021.4(PSEN1):c.416T>A (p.Met139Lys)
|
|
|
|
NM_000021.4(PSEN1):c.427A>G (p.Ile143Val)
|
|
|
|
NM_000021.4(PSEN1):c.437T>C (p.Met146Thr)
|
|
|
|
NM_000021.4(PSEN1):c.504ATC[1] (p.Ser170del)
|
|
|
|
NM_000021.4(PSEN1):c.510_511insTAT (p.Ser170_Leu171insTyr)
|
rs1566638673
|
|
|
NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg)
|
rs267606983
|
|
|
NM_000021.4(PSEN1):c.665A>C (p.Gln222Pro)
|
rs63750009
|
|
|
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)
|
rs63749836
|
|
|
NM_000021.4(PSEN1):c.697A>G (p.Met233Val)
|
rs63751287
|
|
|
NM_000021.4(PSEN1):c.698T>C (p.Met233Thr)
|
rs63751024
|
|
|
NM_000021.4(PSEN1):c.722T>C (p.Leu241Pro)
|
|
|
|
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)
|
rs63750526
|
|
|
NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe)
|
rs1362575880
|
|
|
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)
|
|
|
|
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala)
|
rs199723282
|
|
|
NM_000021.4(PSEN1):c.796G>A (p.Gly266Ser)
|
rs121917807
|
|
|
NM_000021.4(PSEN1):c.799C>A (p.Pro267Thr)
|
rs63751229
|
|
|
NM_000021.4(PSEN1):c.799C>G (p.Pro267Ala)
|
rs63751229
|
|
|
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu)
|
rs63750779
|
|
|
NM_000021.4(PSEN1):c.832A>G (p.Arg278Gly)
|
|
|
|
NM_000021.4(PSEN1):c.869-1G>A
|
rs63750219
|
|
|
NM_000047.3(ARSL):c.185+1G>A
|
rs2147401174
|
|
|
NM_000047.3(ARSL):c.217G>A (p.Gly73Ser)
|
rs2147394157
|
|
|
NM_000047.3(ARSL):c.23+1G>C
|
|
|
|
NM_000047.3(ARSL):c.24-2A>G
|
|
|
|
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs)
|
rs1591517571
|
|
|
NM_000051.4(ATM):c.1924G>T (p.Glu642Ter)
|
rs1057519364
|
|
|
NM_000051.4(ATM):c.201T>G (p.Tyr67Ter)
|
rs1555055083
|
|
|
NM_000051.4(ATM):c.242dup (p.Asn81fs)
|
rs1591451795
|
|
|
NM_000051.4(ATM):c.3747-1G>A
|
rs730881364
|
|
|
NM_000051.4(ATM):c.434T>G (p.Leu145Arg)
|
rs1555059346
|
|
|
NM_000051.4(ATM):c.4776+2T>A
|
rs587781927
|
|
|
NM_000051.4(ATM):c.496+5G>A
|
rs796051858
|
|
|
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)
|
rs1555107263
|
|
|
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp)
|
rs786203767
|
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
|
NM_000051.4(ATM):c.7708G>T (p.Glu2570Ter)
|
rs1555124587
|
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
|
NM_000051.4(ATM):c.8268G>A (p.Lys2756=)
|
rs1555128642
|
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
|
NM_000057.4(BLM):c.320dup (p.Leu107fs)
|
rs781221411
|
|
|
NM_000057.4(BLM):c.3751+2T>C
|
rs1897239414
|
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
|
NM_000059.3(BRCA2):c.68_316del249 (p.Asp23_Leu105del)
|
|
|
|
NM_000059.3(BRCA2):c.8331+2T>A
|
rs398122602
|
|
|
NM_000059.4(BRCA2):c.-39-1G>C
|
rs1060499566
|
|
|
NM_000059.4(BRCA2):c.-39-1_-39del
|
rs758732038
|
|
|
NM_000059.4(BRCA2):c.-39-1delinsAA
|
|
|
|
NM_000059.4(BRCA2):c.-39-2A>G
|
rs1555280053
|
|
|
NM_000059.4(BRCA2):c.1002_1003dup (p.Glu335fs)
|
|
|
|
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs)
|
rs80359261
|
|
|
NM_000059.4(BRCA2):c.1062dup (p.Val355fs)
|
rs1555281716
|
|
|
NM_000059.4(BRCA2):c.1085_1086insCA (p.Thr363fs)
|
|
|
|
NM_000059.4(BRCA2):c.1094del (p.Pro365fs)
|
|
|
|
NM_000059.4(BRCA2):c.1125del (p.Phe376fs)
|
|
|
|
NM_000059.4(BRCA2):c.1179T>A (p.Cys393Ter)
|
rs786201237
|
|
|
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)
|
rs760815829
|
|
|
NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter)
|
rs80358413
|
|
|
NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter)
|
rs781079248
|
|
|
NM_000059.4(BRCA2):c.1233del (p.Leu413fs)
|
rs2072407210
|
|
|
NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs)
|
rs483353112
|
|
|
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)
|
rs80359276
|
|
|
NM_000059.4(BRCA2):c.1362del (p.Lys454fs)
|
rs80359282
|
|
|
NM_000059.4(BRCA2):c.1363_1369del (p.Glu456fs)
|
|
|
|
NM_000059.4(BRCA2):c.1368_1369dup (p.Lys457fs)
|
rs397507583
|
|
|
NM_000059.4(BRCA2):c.1379del (p.Asn460fs)
|
rs1064793945
|
|
|
NM_000059.4(BRCA2):c.1394_1403del (p.Val465fs)
|
|
|
|
NM_000059.4(BRCA2):c.1397dup (p.Asn466fs)
|
|
|
|
NM_000059.4(BRCA2):c.1440C>A (p.Cys480Ter)
|
rs1555281911
|
|
|
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter)
|
rs80358434
|
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
|
NM_000059.4(BRCA2):c.1478del (p.Pro493fs)
|
rs2072414250
|
|
|
NM_000059.4(BRCA2):c.1481del (p.Val494fs)
|
|
|
|
NM_000059.4(BRCA2):c.1495C>T (p.Gln499Ter)
|
rs1566223700
|
|
|
NM_000059.4(BRCA2):c.1593del (p.Glu532fs)
|
rs397507272
|
|
|
NM_000059.4(BRCA2):c.1599_1600del (p.Glu534fs)
|
rs80359293
|
|
|
NM_000059.4(BRCA2):c.15del (p.Glu7fs)
|
rs1064795072
|
|
|
NM_000059.4(BRCA2):c.1648G>T (p.Glu550Ter)
|
rs1555281999
|
|
|
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter)
|
rs80358456
|
|
|
NM_000059.4(BRCA2):c.1712del (p.Ser571fs)
|
rs2137474153
|
|
|
NM_000059.4(BRCA2):c.1733del (p.Gly578fs)
|
rs879255326
|
|
|
NM_000059.4(BRCA2):c.1753A>T (p.Lys585Ter)
|
rs1555282048
|
|
|
NM_000059.4(BRCA2):c.1792dup (p.Thr598fs)
|
rs886040389
|
|
|
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)
|
rs276174813
|
|
|
NM_000059.4(BRCA2):c.1804G>T (p.Gly602Ter)
|
rs80358466
|
|
|
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer)
|
rs587779358
|
|
|
NM_000059.4(BRCA2):c.1841_1842dup (p.Asn615fs)
|
rs80359312
|
|
|
NM_000059.4(BRCA2):c.1846del (p.Cys616fs)
|
rs1566224496
|
|
|
NM_000059.4(BRCA2):c.1849del (p.Ser617fs)
|
|
|
|
NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter)
|
rs397507278
|
|
|
NM_000059.4(BRCA2):c.1889del (p.Thr630fs)
|
rs80359315
|
|
|
NM_000059.4(BRCA2):c.1907C>G (p.Ser636Ter)
|
rs431825288
|
|
|
NM_000059.4(BRCA2):c.1908del (p.Gly637fs)
|
|
|
|
NM_000059.4(BRCA2):c.1910-1G>T
|
rs1566225769
|
|
|
NM_000059.4(BRCA2):c.1910-2A>T
|
rs1228762581
|
|
|
NM_000059.4(BRCA2):c.2050C>T (p.Gln684Ter)
|
|
|
|
NM_000059.4(BRCA2):c.2106del (p.Thr703fs)
|
rs2072450488
|
|
|
NM_000059.4(BRCA2):c.2167_2168del (p.Ser723fs)
|
rs1593896252
|
|
|
NM_000059.4(BRCA2):c.2167_2169delinsCT (p.Ser723fs)
|
rs1566226235
|
|
|
NM_000059.4(BRCA2):c.2169_2170insT (p.Lys724Ter)
|
rs1593896259
|
|
|
NM_000059.4(BRCA2):c.2176del (p.Val726fs)
|
rs1555282499
|
|
|
NM_000059.4(BRCA2):c.2253_2254del (p.Asp752fs)
|
rs398122744
|
|
|
NM_000059.4(BRCA2):c.2279del (p.Leu760fs)
|
rs886038071
|
|
|
NM_000059.4(BRCA2):c.2380dup (p.Met794fs)
|
rs730881602
|
|
|
NM_000059.4(BRCA2):c.2398_2423dup (p.Leu809fs)
|
rs1555282658
|
|
|
NM_000059.4(BRCA2):c.2482T>C (p.Tyr828His)
|
rs1060502466
|
|
|
NM_000059.4(BRCA2):c.2534_2540delinsTTTAT (p.Pro845fs)
|
|
|
|
NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter)
|
rs773356478
|
|
|
NM_000059.4(BRCA2):c.2592del (p.Glu865fs)
|
rs2137487979
|
|
|
NM_000059.4(BRCA2):c.2593G>T (p.Glu865Ter)
|
rs587782014
|
|
|
NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter)
|
rs80358523
|
|
|
NM_000059.4(BRCA2):c.2658_2659del (p.Asn886fs)
|
rs397507291
|
|
|
NM_000059.4(BRCA2):c.2663dup (p.Asn888fs)
|
|
|
|
NM_000059.4(BRCA2):c.2672dup (p.Phe892fs)
|
rs2072462600
|
|
|
NM_000059.4(BRCA2):c.2687_2688insGA (p.Asn896fs)
|
rs1555282795
|
|
|
NM_000059.4(BRCA2):c.2689G>T (p.Glu897Ter)
|
rs979372317
|
|
|
NM_000059.4(BRCA2):c.2731del (p.Glu911fs)
|
rs80359344
|
|
|
NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs)
|
rs786204752
|
|
|
NM_000059.4(BRCA2):c.2748del (p.Cys916fs)
|
rs886040443
|
|
|
NM_000059.4(BRCA2):c.2786del (p.Leu929fs)
|
rs80359347
|
|
|
NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs)
|
rs80359356
|
|
|
NM_000059.4(BRCA2):c.2870del (p.Asn957fs)
|
rs397507645
|
|
|
NM_000059.4(BRCA2):c.2881C>T (p.Gln961Ter)
|
rs80358538
|
|
|
NM_000059.4(BRCA2):c.2886_3114del (p.Ile963fs)
|
rs2072467292
|
|
|
NM_000059.4(BRCA2):c.2886_3144del (p.His962fs)
|
rs2072467220
|
|
|
NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter)
|
rs397507296
|
|
|
NM_000059.4(BRCA2):c.2980del (p.Ala994fs)
|
rs2137491867
|
|
|
NM_000059.4(BRCA2):c.2989_2990del (p.Leu997fs)
|
rs1555282990
|
|
|
NM_000059.4(BRCA2):c.2T>C (p.Met1Thr)
|
rs80358547
|
|
|
NM_000059.4(BRCA2):c.3009_3010del (p.His1003fs)
|
rs397507300
|
|
|
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer)
|
rs876661270
|
|
|
NM_000059.4(BRCA2):c.3061del (p.Glu1021fs)
|
rs2072471318
|
|
|
NM_000059.4(BRCA2):c.3069del (p.Asn1023fs)
|
rs876658555
|
|
|
NM_000059.4(BRCA2):c.3076_3077del (p.Lys1026fs)
|
rs1057517566
|
|
|
NM_000059.4(BRCA2):c.3086dup (p.Met1029fs)
|
rs2072472083
|
|
|
NM_000059.4(BRCA2):c.308dup (p.Leu103fs)
|
rs1057517572
|
|
|
NM_000059.4(BRCA2):c.3100_3101del (p.Asp1033_Ile1034insTer)
|
rs1555283051
|
|
|
NM_000059.4(BRCA2):c.316+5G>A
|
rs81002840
|
|
|
NM_000059.4(BRCA2):c.316+5_316+8del
|
|
|
|
NM_000059.4(BRCA2):c.316+797_476-24del
|
|
|
|
NM_000059.4(BRCA2):c.3167_3170del (p.Gln1056fs)
|
rs80359372
|
|
|
NM_000059.4(BRCA2):c.316_316+3del
|
|
|
|
NM_000059.4(BRCA2):c.3189del (p.Gln1063fs)
|
|
|
|
NM_000059.4(BRCA2):c.3211_3212dup (p.Leu1072fs)
|
rs2137494347
|
|
|
NM_000059.4(BRCA2):c.3222dup (p.Ser1075Ter)
|
|
|
|
NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs)
|
rs80359382
|
|
|
NM_000059.4(BRCA2):c.331_347delinsC (p.Asn111fs)
|
|
|
|
NM_000059.4(BRCA2):c.3328G>T (p.Glu1110Ter)
|
rs1555283173
|
|
|
NM_000059.4(BRCA2):c.3336del (p.Glu1113fs)
|
rs398122763
|
|
|
NM_000059.4(BRCA2):c.3385C>T (p.Gln1129Ter)
|
rs1555283209
|
|
|
NM_000059.4(BRCA2):c.3401del (p.Ser1134fs)
|
rs1555283219
|
|
|
NM_000059.4(BRCA2):c.3405C>A (p.Tyr1135Ter)
|
rs876659258
|
|
|
NM_000059.4(BRCA2):c.3436G>T (p.Glu1146Ter)
|
rs1237049560
|
|
|
NM_000059.4(BRCA2):c.3477C>A (p.Cys1159Ter)
|
rs431825307
|
|
|
NM_000059.4(BRCA2):c.347_350del (p.Ser116fs)
|
|
|
|
NM_000059.4(BRCA2):c.3481_3482dup (p.Asp1161fs)
|
rs878853569
|
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
|
NM_000059.4(BRCA2):c.3649del (p.Arg1217fs)
|
rs864622134
|
|
|
NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter)
|
rs1555283366
|
|
|
NM_000059.4(BRCA2):c.3719dup (p.Phe1241fs)
|
rs2137499319
|
|
|
NM_000059.4(BRCA2):c.3722_3723insA (p.Phe1241fs)
|
|
|
|
NM_000059.4(BRCA2):c.3738_3741del (p.Asn1246fs)
|
rs1555283381
|
|
|
NM_000059.4(BRCA2):c.3767del (p.His1256fs)
|
rs1555283393
|
|
|
NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter)
|
rs1555280859
|
|
|
NM_000059.4(BRCA2):c.3774_3775del (p.Ile1258fs)
|
rs886038094
|
|
|
NM_000059.4(BRCA2):c.3779T>G (p.Leu1260Ter)
|
rs1555283397
|
|
|
NM_000059.4(BRCA2):c.3779dup (p.Leu1260fs)
|
rs397507686
|
|
|
NM_000059.4(BRCA2):c.3859_3860del (p.Lys1286_Asn1287insTer)
|
rs80359406
|
|
|
NM_000059.4(BRCA2):c.3866_3868dup (p.Cys1290Ter)
|
rs1555283442
|
|
|
NM_000059.4(BRCA2):c.3897_3901del (p.Glu1299fs)
|
|
|
|
NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs)
|
rs397507698
|
|
|
NM_000059.4(BRCA2):c.3935dup (p.Asn1312fs)
|
rs1566229411
|
|
|
NM_000059.4(BRCA2):c.3937del (p.Tyr1313fs)
|
rs1566229421
|
|
|
NM_000059.4(BRCA2):c.3968_3971del (p.Lys1323fs)
|
rs886040505
|
|
|
NM_000059.4(BRCA2):c.3972T>G (p.Tyr1324Ter)
|
rs1131692119
|
|
|
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile)
|
rs80358650
|
|
|
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs)
|
rs80359421
|
|
|
NM_000059.4(BRCA2):c.403_410dup (p.Ser137_Cys138insTer)
|
rs1566218217
|
|
|
NM_000059.4(BRCA2):c.4057del (p.Glu1353fs)
|
rs2072494571
|
|
|
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs)
|
rs397507322
|
|
|
NM_000059.4(BRCA2):c.4092_4093insAA (p.Cys1365fs)
|
rs876658329
|
|
|
NM_000059.4(BRCA2):c.4117_4127delinsT (p.Phe1372_Met1373insTer)
|
|
|
|
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs)
|
rs397507323
|
|
|
NM_000059.4(BRCA2):c.4163del (p.Thr1388fs)
|
|
|
|
NM_000059.4(BRCA2):c.425+2T>C
|
rs876661045
|
|
|
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile)
|
rs397507713
|
|
|
NM_000059.4(BRCA2):c.426-1G>A
|
rs1060502485
|
|
|
NM_000059.4(BRCA2):c.4263dup (p.Glu1422Ter)
|
rs1555283664
|
|
|
NM_000059.4(BRCA2):c.4270dup (p.Ser1424fs)
|
rs1555283672
|
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
|
NM_000059.4(BRCA2):c.4305_4309del (p.Asn1435fs)
|
rs1566230041
|
|
|
NM_000059.4(BRCA2):c.4309dup (p.Ser1437fs)
|
|
|
|
NM_000059.4(BRCA2):c.4321G>T (p.Glu1441Ter)
|
rs876659758
|
|
|
NM_000059.4(BRCA2):c.4350dup (p.Asp1451Ter)
|
|
|
|
NM_000059.4(BRCA2):c.4361_4368delinsTCAGAT (p.Pro1454fs)
|
|
|
|
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs)
|
rs397507331
|
|
|
NM_000059.4(BRCA2):c.4454_4455del (p.Ile1485fs)
|
rs2137506518
|
|
|
NM_000059.4(BRCA2):c.4464del (p.His1488fs)
|
|
|
|
NM_000059.4(BRCA2):c.4474A>T (p.Lys1492Ter)
|
rs1057517636
|
|
|
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)
|
rs80359454
|
|
|
NM_000059.4(BRCA2):c.452dup (p.Thr152fs)
|
rs2072343917
|
|
|
NM_000059.4(BRCA2):c.4548del (p.Glu1518fs)
|
rs2072507154
|
|
|
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs)
|
rs80359458
|
|
|
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs)
|
rs1057517565
|
|
|
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter)
|
rs80358692
|
|
|
NM_000059.4(BRCA2):c.4591A>T (p.Lys1531Ter)
|
rs1555283865
|
|
|
NM_000059.4(BRCA2):c.4624_4625insCG (p.Val1542fs)
|
rs1555283876
|
|
|
NM_000059.4(BRCA2):c.4632_4636del (p.Asn1544_Leu1545insTer)
|
rs2137508514
|
|
|
NM_000059.4(BRCA2):c.469A>T (p.Lys157Ter)
|
rs1593886887
|
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
|
NM_000059.4(BRCA2):c.4714_4715insGCAAAGAC (p.Ala1572fs)
|
|
|
|
NM_000059.4(BRCA2):c.4718_4719del (p.Ala1572_Cys1573insTer)
|
|
|
|
NM_000059.4(BRCA2):c.4731del (p.Glu1577fs)
|
rs397507740
|
|
|
NM_000059.4(BRCA2):c.4738dup (p.Cys1580fs)
|
|
|
|
NM_000059.4(BRCA2):c.475+1del
|
|
|
|
NM_000059.4(BRCA2):c.475+4del
|
rs276174848
|
|
|
NM_000059.4(BRCA2):c.475+5G>T
|
rs730881504
|
|
|
NM_000059.4(BRCA2):c.475G>A (p.Val159Met)
|
rs80358702
|
|
|
NM_000059.4(BRCA2):c.476-4_476-1delinsT
|
rs587782880
|
|
|
NM_000059.4(BRCA2):c.4780_4787del (p.Met1594fs)
|
|
|
|
NM_000059.4(BRCA2):c.4803dup (p.Lys1602Ter)
|
rs2072513173
|
|
|
NM_000059.4(BRCA2):c.4804A>T (p.Lys1602Ter)
|
rs1566231167
|
|
|
NM_000059.4(BRCA2):c.4822G>T (p.Glu1608Ter)
|
rs1566231194
|
|
|
NM_000059.4(BRCA2):c.4851dup (p.Asp1618Ter)
|
|
|
|
NM_000059.4(BRCA2):c.4855_4858del (p.Asn1619fs)
|
|
|
|
NM_000059.4(BRCA2):c.4894_4895del (p.Ser1632fs)
|
rs397507748
|
|
|
NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter)
|
rs1566231364
|
|
|
NM_000059.4(BRCA2):c.4983_4986del (p.Pro1660_Tyr1661insTer)
|
rs1593904052
|
|
|
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs)
|
rs80359477
|
|
|
NM_000059.4(BRCA2):c.5110_5113del (p.Glu1703_Arg1704insTer)
|
rs879254123
|
|
|
NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter)
|
rs80358740
|
|
|
NM_000059.4(BRCA2):c.516+2T>A
|
rs397507764
|
|
|
NM_000059.4(BRCA2):c.516G>A (p.Lys172=)
|
rs80359790
|
|
|
NM_000059.4(BRCA2):c.517-29_519del
|
rs2137451744
|
|
|
NM_000059.4(BRCA2):c.517-2A>G
|
rs81002858
|
|
|
NM_000059.4(BRCA2):c.517-2A>T
|
rs81002858
|
|
|
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg)
|
rs397507768
|
|
|
NM_000059.4(BRCA2):c.518_631+462del
|
rs2072348853
|
|
|
NM_000059.4(BRCA2):c.518_631+462delinsAAAGAAATTTTATTTCTTT
|
|
|
|
NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs)
|
rs1555284103
|
|
|
NM_000059.4(BRCA2):c.5201_5205delinsGAAAAG (p.Glu1734fs)
|
rs483353082
|
|
|
NM_000059.4(BRCA2):c.5216_5217insAATA (p.Tyr1739Ter)
|
rs1555284111
|
|
|
NM_000059.4(BRCA2):c.5223dup (p.Asn1742Ter)
|
rs1555284120
|
|
|
NM_000059.4(BRCA2):c.5247T>G (p.Tyr1749Ter)
|
rs1566232050
|
|
|
NM_000059.4(BRCA2):c.5270_5286del (p.Tyr1757fs)
|
rs80359502
|
|
|
NM_000059.4(BRCA2):c.5271T>A (p.Tyr1757Ter)
|
rs1555284139
|
|
|
NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter)
|
rs886038122
|
|
|
NM_000059.4(BRCA2):c.534del (p.Lys178fs)
|
rs1191198388
|
|
|
NM_000059.4(BRCA2):c.5362dup (p.Ser1788fs)
|
rs587781849
|
|
|
NM_000059.4(BRCA2):c.5365A>T (p.Lys1789Ter)
|
rs587782240
|
|
|
NM_000059.4(BRCA2):c.5487_5488del (p.Leu1829fs)
|
rs1057517595
|
|
|
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs)
|
rs80359519
|
|
|
NM_000059.4(BRCA2):c.5569del (p.Glu1857fs)
|
|
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
|
NM_000059.4(BRCA2):c.5590_5591del (p.Asp1864fs)
|
rs886040598
|
|
|
NM_000059.4(BRCA2):c.5613del (p.Ser1871fs)
|
rs2072533506
|
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
|
NM_000059.4(BRCA2):c.5631del (p.Asn1877fs)
|
rs397507357
|
|
|
NM_000059.4(BRCA2):c.5653del (p.Cys1885fs)
|
rs886040602
|
|
|
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)
|
rs397507359
|
|
|
NM_000059.4(BRCA2):c.5715dup (p.Asn1906Ter)
|
rs587782901
|
|
|
NM_000059.4(BRCA2):c.572A>G (p.Asp191Gly)
|
rs397507798
|
|
|
NM_000059.4(BRCA2):c.5779G>T (p.Glu1927Ter)
|
rs886038131
|
|
|
NM_000059.4(BRCA2):c.5800C>T (p.Gln1934Ter)
|
rs886040610
|
|
|
NM_000059.4(BRCA2):c.5803delinsTT (p.Asn1935fs)
|
rs1555284402
|
|
|
NM_000059.4(BRCA2):c.5818G>T (p.Glu1940Ter)
|
rs1566233278
|
|
|
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)
|
rs80359543
|
|
|
NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter)
|
rs375064902
|
|
|
NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs)
|
rs786202700
|
|
|
NM_000059.4(BRCA2):c.5890A>T (p.Lys1964Ter)
|
rs1555284445
|
|
|
NM_000059.4(BRCA2):c.5908_5909del (p.Ser1970fs)
|
|
|
|
NM_000059.4(BRCA2):c.5925del (p.Cys1975fs)
|
rs1555284465
|
|
|
NM_000059.4(BRCA2):c.5960del (p.Gln1987fs)
|
|
|
|
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)
|
rs80358840
|
|
|
NM_000059.4(BRCA2):c.6039del (p.Val2014fs)
|
rs876660637
|
|
|
NM_000059.4(BRCA2):c.6045del (p.Leu2015fs)
|
rs2072544996
|
|
|
NM_000059.4(BRCA2):c.607_610del (p.Thr203fs)
|
|
|
|
NM_000059.4(BRCA2):c.607_610dup (p.Leu204fs)
|
|
|
|
NM_000059.4(BRCA2):c.6089dup (p.Asn2030fs)
|
rs1555284538
|
|
|
NM_000059.4(BRCA2):c.6116T>G (p.Leu2039Ter)
|
rs1555284559
|
|
|
NM_000059.4(BRCA2):c.6135_6139del (p.Phe2045fs)
|
|
|
|
NM_000059.4(BRCA2):c.6155dup (p.Ser2053fs)
|
rs1566234047
|
|
|
NM_000059.4(BRCA2):c.6222_6223del (p.His2074fs)
|
|
|
|
NM_000059.4(BRCA2):c.6226del (p.Val2076fs)
|
rs2072549559
|
|
|
NM_000059.4(BRCA2):c.6290_6291insTA (p.Arg2099fs)
|
rs1566234270
|
|
|
NM_000059.4(BRCA2):c.631+1G>A
|
rs81002897
|
|
|
NM_000059.4(BRCA2):c.631+1G>C
|
rs81002897
|
|
|
NM_000059.4(BRCA2):c.631+2T>A
|
rs81002899
|
|
|
NM_000059.4(BRCA2):c.631+2T>C
|
rs81002899
|
|
|
NM_000059.4(BRCA2):c.631+3A>G
|
rs397507840
|
|
|
NM_000059.4(BRCA2):c.631+4A>G
|
rs397507841
|
|
|
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)
|
rs80358871
|
|
|
NM_000059.4(BRCA2):c.632-1dup
|
rs1566220586
|
|
|
NM_000059.4(BRCA2):c.6393del (p.Lys2131fs)
|
rs886038145
|
|
|
NM_000059.4(BRCA2):c.6415G>T (p.Glu2139Ter)
|
rs763639231
|
|
|
NM_000059.4(BRCA2):c.6415_6426delinsTGTTTAGTTAG (p.Glu2139fs)
|
rs2072554847
|
|
|
NM_000059.4(BRCA2):c.6437_6440dup (p.His2147fs)
|
rs397507855
|
|
|
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter)
|
rs398122559
|
|
|
NM_000059.4(BRCA2):c.6547_6550del (p.Glu2183fs)
|
rs2072559281
|
|
|
NM_000059.4(BRCA2):c.6588_6589del (p.Lys2196fs)
|
rs397507868
|
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
|
NM_000059.4(BRCA2):c.6602del (p.Ser2201fs)
|
rs431825343
|
|
|
NM_000059.4(BRCA2):c.6626_6627dup (p.Glu2210Ter)
|
rs80359610
|
|
|
NM_000059.4(BRCA2):c.6649A>T (p.Lys2217Ter)
|
rs1555284779
|
|
|
NM_000059.4(BRCA2):c.6658G>T (p.Glu2220Ter)
|
|
|
|
NM_000059.4(BRCA2):c.67+1G>C
|
rs81002796
|
|
|
NM_000059.4(BRCA2):c.67+2del
|
rs863224439
|
|
|
NM_000059.4(BRCA2):c.67+57_316+123delinsCAC
|
|
|
|
NM_000059.4(BRCA2):c.6712_6713insGG (p.Asp2238fs)
|
rs1555284811
|
|
|
NM_000059.4(BRCA2):c.6750_6751insACACA (p.His2251fs)
|
rs2137530365
|
|
|
NM_000059.4(BRCA2):c.6762del (p.Phe2254fs)
|
rs80359624
|
|
|
NM_000059.4(BRCA2):c.6787delinsTT (p.Val2263fs)
|
|
|
|
NM_000059.4(BRCA2):c.67G>A (p.Asp23Asn)
|
rs397507881
|
|
|
NM_000059.4(BRCA2):c.68-2A>G
|
rs769152395
|
|
|
NM_000059.4(BRCA2):c.68-352_317-1637del
|
|
|
|
NM_000059.4(BRCA2):c.681+1G>A
|
rs398122565
|
|
|
NM_000059.4(BRCA2):c.681+1del
|
|
|
|
NM_000059.4(BRCA2):c.681+2dup
|
rs587781486
|
|
|
NM_000059.4(BRCA2):c.681+4A>G
|
rs397507884
|
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
|
NM_000059.4(BRCA2):c.683del (p.Asn228fs)
|
rs1566221288
|
|
|
NM_000059.4(BRCA2):c.6841+1G>A
|
rs773863936
|
|
|
NM_000059.4(BRCA2):c.6841+1G>T
|
|
|
|
NM_000059.4(BRCA2):c.6841+1del
|
rs397507887
|
|
|
NM_000059.4(BRCA2):c.6841+2T>A
|
|
|
|
NM_000059.4(BRCA2):c.6841+2T>G
|
rs1593909960
|
|
|
NM_000059.4(BRCA2):c.6841G>T (p.Gly2281Ter)
|
|
|
|
NM_000059.4(BRCA2):c.6842-2A>G
|
rs1555285132
|
|
|
NM_000059.4(BRCA2):c.6849del (p.Ser2284fs)
|
rs761744738
|
|
|
NM_000059.4(BRCA2):c.6865_6866del (p.Leu2289fs)
|
rs2137536911
|
|
|
NM_000059.4(BRCA2):c.6879del (p.Phe2293fs)
|
rs886040932
|
|
|
NM_000059.4(BRCA2):c.6887del (p.Ile2296fs)
|
|
|
|
NM_000059.4(BRCA2):c.6922A>T (p.Lys2308Ter)
|
|
|
|
NM_000059.4(BRCA2):c.6938-125_6938del
|
|
|
|
NM_000059.4(BRCA2):c.6938-1G>A
|
rs886040936
|
|
|
NM_000059.4(BRCA2):c.6938-2A>G
|
rs81002863
|
|
|
NM_000059.4(BRCA2):c.6938-5_6956del
|
|
|
|
NM_000059.4(BRCA2):c.6944_6947del (p.Ile2315fs)
|
rs80359629
|
|
|
NM_000059.4(BRCA2):c.6976del (p.Ser2326fs)
|
rs886040679
|
|
|
NM_000059.4(BRCA2):c.6980del (p.Ser2326_Leu2327insTer)
|
rs879255306
|
|
|
NM_000059.4(BRCA2):c.6986_6990del (p.Pro2329fs)
|
rs1064795172
|
|
|
NM_000059.4(BRCA2):c.6999dup (p.Pro2334fs)
|
rs1566237861
|
|
|
NM_000059.4(BRCA2):c.7007+1G>T
|
rs397507891
|
|
|
NM_000059.4(BRCA2):c.7007+5G>A
|
rs81002816
|
|
|
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu)
|
rs28897743
|
|
|
NM_000059.4(BRCA2):c.7008-2A>T
|
rs81002823
|
|
|
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)
|
rs80358928
|
|
|
NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter)
|
rs886040685
|
|
|
NM_000059.4(BRCA2):c.707del (p.His236fs)
|
rs2072385245
|
|
|
NM_000059.4(BRCA2):c.7097dup (p.Thr2367fs)
|
rs786202600
|
|
|
NM_000059.4(BRCA2):c.7110dup (p.Ser2371fs)
|
rs80359638
|
|
|
NM_000059.4(BRCA2):c.7124T>G (p.Leu2375Ter)
|
rs886040687
|
|
|
NM_000059.4(BRCA2):c.7147del (p.Tyr2383fs)
|
rs878853599
|
|
|
NM_000059.4(BRCA2):c.7147dup (p.Tyr2383fs)
|
rs878853599
|
|
|
NM_000059.4(BRCA2):c.7171G>T (p.Glu2391Ter)
|
|
|
|
NM_000059.4(BRCA2):c.7186_7187del (p.Leu2396fs)
|
rs1555286031
|
|
|
NM_000059.4(BRCA2):c.718_719del (p.Leu240fs)
|
rs1555281459
|
|
|
NM_000059.4(BRCA2):c.71_96del (p.Asp23_Leu24insTer)
|
rs80359637
|
|
|
NM_000059.4(BRCA2):c.7219_7220del (p.Val2407fs)
|
rs2137556981
|
|
|
NM_000059.4(BRCA2):c.7230del (p.Phe2410fs)
|
rs1555286052
|
|
|
NM_000059.4(BRCA2):c.7241C>G (p.Ser2414Ter)
|
rs80358951
|
|
|
NM_000059.4(BRCA2):c.7270dup (p.Arg2424fs)
|
rs2072681595
|
|
|
NM_000059.4(BRCA2):c.7274del (p.Asn2425fs)
|
rs1566241084
|
|
|
NM_000059.4(BRCA2):c.7300_7301del (p.Lys2434fs)
|
|
|
|
NM_000059.4(BRCA2):c.7317del (p.His2440fs)
|
rs2072682479
|
|
|
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter)
|
rs397507912
|
|
|
NM_000059.4(BRCA2):c.738del (p.Phe246fs)
|
rs1566221413
|
|
|
NM_000059.4(BRCA2):c.7402dup (p.Val2468fs)
|
|
|
|
NM_000059.4(BRCA2):c.7403dup (p.Thr2469fs)
|
rs1555286105
|
|
|
NM_000059.4(BRCA2):c.7419T>A (p.Cys2473Ter)
|
rs1555286120
|
|
|
NM_000059.4(BRCA2):c.7423G>T (p.Glu2475Ter)
|
rs1566241336
|
|
|
NM_000059.4(BRCA2):c.7435+2T>A
|
rs1434072252
|
|
|
NM_000059.4(BRCA2):c.7436-1G>T
|
rs886040939
|
|
|
NM_000059.4(BRCA2):c.7436-2_7437del
|
rs876659229
|
|
|
NM_000059.4(BRCA2):c.7506_7507insTCTT (p.Val2503fs)
|
rs2137562363
|
|
|
NM_000059.4(BRCA2):c.750_771del (p.Thr251fs)
|
|
|
|
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs)
|
rs80359656
|
|
|
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro)
|
rs80358979
|
|
|
NM_000059.4(BRCA2):c.7568dup (p.Lys2524fs)
|
rs1566242125
|
|
|
NM_000059.4(BRCA2):c.7570A>T (p.Lys2524Ter)
|
rs1555286291
|
|
|
NM_000059.4(BRCA2):c.7577_7580del (p.Ala2526fs)
|
|
|
|
NM_000059.4(BRCA2):c.7582_7583insA (p.Gly2528fs)
|
|
|
|
NM_000059.4(BRCA2):c.7618-10T>G
|
rs864622573
|
|
|
NM_000059.4(BRCA2):c.7618-1G>C
|
rs397507389
|
|
|
NM_000059.4(BRCA2):c.7618-516_7653del
|
|
|
|
NM_000059.4(BRCA2):c.7622_7629dup (p.Gly2544fs)
|
rs2137566082
|
|
|
NM_000059.4(BRCA2):c.764dup (p.Asn255fs)
|
rs1555281474
|
|
|
NM_000059.4(BRCA2):c.767_768del (p.Thr256fs)
|
rs80359670
|
|
|
NM_000059.4(BRCA2):c.7682A>C (p.Gln2561Pro)
|
rs55647716
|
|
|
NM_000059.4(BRCA2):c.7717_7718del (p.Leu2573fs)
|
rs2137567005
|
|
|
NM_000059.4(BRCA2):c.7745_7751dup (p.Gly2584_Gly2585insTer)
|
rs1593920945
|
|
|
NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg)
|
rs80359002
|
|
|
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)
|
rs398122591
|
|
|
NM_000059.4(BRCA2):c.7786G>C (p.Gly2596Arg)
|
rs398122591
|
|
|
NM_000059.4(BRCA2):c.7787G>A (p.Gly2596Glu)
|
rs1064795140
|
|
|
NM_000059.4(BRCA2):c.7787G>T (p.Gly2596Val)
|
rs1064795140
|
|
|
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del)
|
rs80359682
|
|
|
NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys)
|
rs786202344
|
|
|
NM_000059.4(BRCA2):c.7805+2_7805+3del
|
rs2072712311
|
|
|
NM_000059.4(BRCA2):c.7806-2A>G
|
rs81002836
|
|
|
NM_000059.4(BRCA2):c.7807G>C (p.Ala2603Pro)
|
rs730881560
|
|
|
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp)
|
rs80359009
|
|
|
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val)
|
rs80359009
|
|
|
NM_000059.4(BRCA2):c.7832A>G (p.Asp2611Gly)
|
rs80359010
|
|
|
NM_000059.4(BRCA2):c.7847C>T (p.Ser2616Phe)
|
rs1174303167
|
|
|
NM_000059.4(BRCA2):c.7847del (p.Ser2616fs)
|
rs80359685
|
|
|
NM_000059.4(BRCA2):c.7857G>C (p.Trp2619Cys)
|
rs80359011
|
|
|
NM_000059.4(BRCA2):c.7867C>T (p.His2623Tyr)
|
rs1566244783
|
|
|
NM_000059.4(BRCA2):c.7868A>C (p.His2623Pro)
|
|
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
|
NM_000059.4(BRCA2):c.7868A>T (p.His2623Leu)
|
rs80359012
|
|
|
NM_000059.4(BRCA2):c.7872T>G (p.Tyr2624Ter)
|
rs863224468
|
|
|
NM_000059.4(BRCA2):c.7876T>A (p.Trp2626Arg)
|
rs1060502459
|
|
|
NM_000059.4(BRCA2):c.7876T>C (p.Trp2626Arg)
|
rs1060502459
|
|
|
NM_000059.4(BRCA2):c.7880T>A (p.Ile2627Asn)
|
rs876658736
|
|
|
NM_000059.4(BRCA2):c.7884dup (p.Trp2629fs)
|
rs397507943
|
|
|
NM_000059.4(BRCA2):c.7888A>C (p.Lys2630Gln)
|
rs1380792392
|
|
|
NM_000059.4(BRCA2):c.7892T>C (p.Leu2631Pro)
|
rs2072746856
|
|
|
NM_000059.4(BRCA2):c.7923dup (p.Phe2642fs)
|
rs2137577492
|
|
|
NM_000059.4(BRCA2):c.793+1G>C
|
rs81002846
|
|
|
NM_000059.4(BRCA2):c.793+2T>G
|
rs886040942
|
|
|
NM_000059.4(BRCA2):c.7933_7943delinsCTATTAGCA (p.Arg2645fs)
|
rs2137577594
|
|
|
NM_000059.4(BRCA2):c.794-1G>A
|
|
|
|
NM_000059.4(BRCA2):c.794-2A>G
|
rs1566222053
|
|
|
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro)
|
rs80359021
|
|
|
NM_000059.4(BRCA2):c.7946del (p.Pro2649fs)
|
rs863224828
|
|
|
NM_000059.4(BRCA2):c.7955T>G (p.Val2652Gly)
|
rs1555286868
|
|
|
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)
|
rs80359022
|
|
|
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)
|
rs80359024
|
|
|
NM_000059.4(BRCA2):c.7971_7976+4del
|
|
|
|
NM_000059.4(BRCA2):c.7976+1G>A
|
rs81002873
|
|
|
NM_000059.4(BRCA2):c.7976+5G>A
|
rs786201180
|
|
|
NM_000059.4(BRCA2):c.7977-3_7977-2delinsAG
|
rs1135401921
|
|
|
NM_000059.4(BRCA2):c.7977-3_7977-2delinsGT
|
|
|
|
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp)
|
rs80359029
|
|
|
NM_000059.4(BRCA2):c.7979_7991del (p.Tyr2660fs)
|
rs730881614
|
|
|
NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys)
|
rs80359030
|
|
|
NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter)
|
rs786202796
|
|
|
NM_000059.4(BRCA2):c.8009C>G (p.Ser2670Trp)
|
rs80359035
|
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
|
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro)
|
rs28897746
|
|
|
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter)
|
rs80359046
|
|
|
NM_000059.4(BRCA2):c.8099del (p.Ile2700fs)
|
rs2137580749
|
|
|
NM_000059.4(BRCA2):c.8143A>T (p.Lys2715Ter)
|
rs863224469
|
|
|
NM_000059.4(BRCA2):c.8145del (p.Val2716fs)
|
rs1135401923
|
|
|
NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His)
|
rs80359061
|
|
|
NM_000059.4(BRCA2):c.8164A>G (p.Thr2722Ala)
|
rs1555287019
|
|
|
NM_000059.4(BRCA2):c.8165C>A (p.Thr2722Lys)
|
rs80359062
|
|
|
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile)
|
rs80359062
|
|
|
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn)
|
rs41293511
|
|
|
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala)
|
rs41293513
|
|
|
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val)
|
rs41293513
|
|
|
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu)
|
rs1060502432
|
|
|
NM_000059.4(BRCA2):c.8170G>A (p.Gly2724Arg)
|
|
|
|
NM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val)
|
rs80359063
|
|
|
NM_000059.4(BRCA2):c.8174G>T (p.Trp2725Leu)
|
rs730881581
|
|
|
NM_000059.4(BRCA2):c.8176T>A (p.Tyr2726Asn)
|
rs2137581441
|
|
|
NM_000059.4(BRCA2):c.8188G>A (p.Ala2730Thr)
|
rs80359066
|
|
|
NM_000059.4(BRCA2):c.8218_8222del (p.Leu2740fs)
|
rs1566245731
|
|
|
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del)
|
rs80359698
|
|
|
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser)
|
rs56371528
|
|
|
NM_000059.4(BRCA2):c.8243G>T (p.Gly2748Val)
|
rs80359071
|
|
|
NM_000059.4(BRCA2):c.8265_8275del (p.Ala2756fs)
|
|
|
|
NM_000059.4(BRCA2):c.8323dup (p.Met2775fs)
|
rs276174904
|
|
|
NM_000059.4(BRCA2):c.8331+2T>G
|
rs398122602
|
|
|
NM_000059.4(BRCA2):c.8332-1G>T
|
rs397507979
|
|
|
NM_000059.4(BRCA2):c.8332-2A>C
|
rs587782774
|
|
|
NM_000059.4(BRCA2):c.8332-2A>G
|
rs587782774
|
|
|
NM_000059.4(BRCA2):c.8342A>G (p.Asn2781Ser)
|
rs1434821822
|
|
|
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile)
|
rs1434821822
|
|
|
NM_000059.4(BRCA2):c.8362T>C (p.Trp2788Arg)
|
rs80359079
|
|
|
NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser)
|
rs80359080
|
|
|
NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro)
|
rs28897751
|
|
|
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu)
|
rs80359083
|
|
|
NM_000059.4(BRCA2):c.8387del (p.Pro2796fs)
|
|
|
|
NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter)
|
rs886040778
|
|
|
NM_000059.4(BRCA2):c.8471G>C (p.Arg2824Thr)
|
rs431825366
|
|
|
NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter)
|
rs776353983
|
|
|
NM_000059.4(BRCA2):c.8486A>C (p.Gln2829Pro)
|
rs80359100
|
|
|
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)
|
rs80359100
|
|
|
NM_000059.4(BRCA2):c.8487+3A>G
|
rs81002806
|
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
|
NM_000059.4(BRCA2):c.8488-1_8489delinsTCCATTACA
|
rs886038183
|
|
|
NM_000059.4(BRCA2):c.8488-2A>C
|
rs773272765
|
|
|
NM_000059.4(BRCA2):c.8501del (p.Thr2834fs)
|
rs80359712
|
|
|
NM_000059.4(BRCA2):c.8533dup (p.Arg2845fs)
|
rs397507990
|
|
|
NM_000059.4(BRCA2):c.8611G>T (p.Glu2871Ter)
|
rs587782860
|
|
|
NM_000059.4(BRCA2):c.8632+1G>A
|
rs397507997
|
|
|
NM_000059.4(BRCA2):c.8632+1G>T
|
rs397507997
|
|
|
NM_000059.4(BRCA2):c.8632+2T>G
|
rs397507998
|
|
|
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys)
|
rs398122710
|
|
|
NM_000059.4(BRCA2):c.8633-1G>A
|
rs398122711
|
|
|
NM_000059.4(BRCA2):c.8633-1G>C
|
|
|
|
NM_000059.4(BRCA2):c.8633-1G>T
|
|
|
|
NM_000059.4(BRCA2):c.866del (p.Asn289fs)
|
rs2072398949
|
|
|
NM_000059.4(BRCA2):c.8715T>A (p.Tyr2905Ter)
|
rs45555831
|
|
|
NM_000059.4(BRCA2):c.8754+4A>G
|
rs81002893
|
|
|
NM_000059.4(BRCA2):c.8754+4A>T
|
rs81002893
|
|
|
NM_000059.4(BRCA2):c.8754+5G>A
|
rs81002813
|
|
|
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=)
|
rs80359803
|
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
|
NM_000059.4(BRCA2):c.8755-1G>C
|
rs81002812
|
|
|
NM_000059.4(BRCA2):c.8755-2A>C
|
rs1566252482
|
|
|
NM_000059.4(BRCA2):c.8792del (p.Asn2931fs)
|
rs2072898210
|
|
|
NM_000059.4(BRCA2):c.8833C>T (p.Gln2945Ter)
|
|
|
|
NM_000059.4(BRCA2):c.8868dup (p.Gln2957fs)
|
rs1555288386
|
|
|
NM_000059.4(BRCA2):c.889G>T (p.Glu297Ter)
|
rs879255298
|
|
|
NM_000059.4(BRCA2):c.8900_8901del (p.Thr2967fs)
|
rs1593936840
|
|
|
NM_000059.4(BRCA2):c.891_899delinsGATACTTAG (p.Thr298_Val300delinsIleLeuArg)
|
rs1135401937
|
|
|
NM_000059.4(BRCA2):c.8924del (p.Val2975fs)
|
rs397508020
|
|
|
NM_000059.4(BRCA2):c.8931T>A (p.Tyr2977Ter)
|
rs886040801
|
|
|
NM_000059.4(BRCA2):c.8953+1_8953+2insGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCACATGGGGAGGCCGAGGCGGGTGGATCGGGTGGACACGAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGATTCAGG
|
|
|
|
NM_000059.4(BRCA2):c.8953+2T>C
|
rs886040947
|
|
|
NM_000059.4(BRCA2):c.8954-1G>A
|
rs1555288435
|
|
|
NM_000059.4(BRCA2):c.8954-2A>C
|
rs1135401928
|
|
|
NM_000059.4(BRCA2):c.8954-2A>G
|
rs1135401928
|
|
|
NM_000059.4(BRCA2):c.8954-2A>T
|
rs1135401928
|
|
|
NM_000059.4(BRCA2):c.8954-3C>G
|
rs81002844
|
|
|
NM_000059.4(BRCA2):c.8954-5A>G
|
rs886040949
|
|
|
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del)
|
rs80359736
|
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
|
NM_000059.4(BRCA2):c.9008G>A (p.Gly3003Glu)
|
rs1566253139
|
|
|
NM_000059.4(BRCA2):c.9010_9013del (p.Lys3004fs)
|
|
|
|
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp)
|
rs397507416
|
|
|
NM_000059.4(BRCA2):c.9016_9017del (p.Tyr3006fs)
|
rs80359739
|
|
|
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter)
|
rs80359156
|
|
|
NM_000059.4(BRCA2):c.9045del (p.Lys3015fs)
|
rs2137622994
|
|
|
NM_000059.4(BRCA2):c.9057A>G (p.Lys3019=)
|
rs1799956
|
|
|
NM_000059.4(BRCA2):c.9074_9075del (p.Ile3025fs)
|
rs397508034
|
|
|
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro)
|
rs80359161
|
|
|
NM_000059.4(BRCA2):c.9096_9097del (p.Lys3032fs)
|
rs397507419
|
|
|
NM_000059.4(BRCA2):c.9117+1del
|
rs869320801
|
|
|
NM_000059.4(BRCA2):c.9117G>T (p.Pro3039=)
|
rs28897756
|
|
|
NM_000059.4(BRCA2):c.9117_9117+11del
|
rs1593937758
|
|
|
NM_000059.4(BRCA2):c.9127G>T (p.Glu3043Ter)
|
rs398122610
|
|
|
NM_000059.4(BRCA2):c.9148C>T (p.Gln3050Ter)
|
rs80359170
|
|
|
NM_000059.4(BRCA2):c.9155G>T (p.Arg3052Leu)
|
rs80359171
|
|
|
NM_000059.4(BRCA2):c.9191del (p.Asp3064fs)
|
rs2137625213
|
|
|
NM_000059.4(BRCA2):c.91T>C (p.Trp31Arg)
|
rs80359182
|
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
|
NM_000059.4(BRCA2):c.9221T>C (p.Leu3074Pro)
|
|
|
|
NM_000059.4(BRCA2):c.9222_9223insTT (p.Ile3075fs)
|
rs2137625568
|
|
|
NM_000059.4(BRCA2):c.9226G>A (p.Gly3076Arg)
|
rs1566253644
|
|
|
NM_000059.4(BRCA2):c.9226G>C (p.Gly3076Arg)
|
rs1566253644
|
|
|
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu)
|
rs80359187
|
|
|
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val)
|
rs80359187
|
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
|
NM_000059.4(BRCA2):c.9254_9256+11del
|
rs1555288584
|
|
|
NM_000059.4(BRCA2):c.9254del (p.Thr3085fs)
|
rs1555288587
|
|
|
NM_000059.4(BRCA2):c.9256+1G>A
|
rs81002883
|
|
|
NM_000059.4(BRCA2):c.9256_9256+1delinsTA
|
rs587781422
|
|
|
NM_000059.4(BRCA2):c.9257-1G>C
|
rs81002889
|
|
|
NM_000059.4(BRCA2):c.9269dup (p.Val3091fs)
|
rs80359753
|
|
|
NM_000059.4(BRCA2):c.9278T>A (p.Leu3093Ter)
|
|
|
|
NM_000059.4(BRCA2):c.9285C>A (p.Asp3095Glu)
|
rs80359198
|
|
|
NM_000059.4(BRCA2):c.9286dup (p.Glu3096fs)
|
rs778782209
|
|
|
NM_000059.4(BRCA2):c.92G>C (p.Trp31Ser)
|
|
|
|
NM_000059.4(BRCA2):c.9364G>C (p.Ala3122Pro)
|
rs587782313
|
|
|
NM_000059.4(BRCA2):c.9372C>A (p.Asn3124Lys)
|
rs1420566833
|
|
|
NM_000059.4(BRCA2):c.9374T>A (p.Leu3125His)
|
rs80359209
|
|
|
NM_000059.4(BRCA2):c.9399del (p.Gly3134fs)
|
|
|
|
NM_000059.4(BRCA2):c.93_97del (p.Trp31_Glu33delinsTer)
|
rs2138703748
|
|
|
NM_000059.4(BRCA2):c.9465_9466insTGAT (p.Gln3156Ter)
|
rs1555289602
|
|
|
NM_000059.4(BRCA2):c.9477del (p.Phe3159fs)
|
|
|
|
NM_000059.4(BRCA2):c.9501+1G>A
|
rs397508058
|
|
|
NM_000059.4(BRCA2):c.9501+1G>T
|
rs397508058
|
|
|
NM_000059.4(BRCA2):c.958del (p.Leu320fs)
|
|
|
|
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)
|
rs1566260198
|
|
|
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter)
|
rs80359230
|
|
|
NM_000059.4(BRCA2):c.9648+1G>A
|
rs730881573
|
|
|
NM_000059.4(BRCA2):c.9649-1G>T
|
rs1555289898
|
|
|
NM_000059.4(BRCA2):c.9692C>A (p.Ser3231Ter)
|
rs1593201677
|
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
|
NM_000059.4(BRCA2):c.9730_9731del (p.Val3244fs)
|
|
|
|
NM_000059.4(BRCA2):c.9759T>A (p.Cys3253Ter)
|
|
|
|
NM_000059.4(BRCA2):c.9766_9770del (p.Glu3256fs)
|
rs1555289953
|
|
|
NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs)
|
rs1566260997
|
|
|
NM_000059.4(BRCA2):c.9784C>T (p.Gln3262Ter)
|
rs1566261010
|
|
|
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter)
|
rs80359251
|
|
|
NM_000070.3(CAPN3):c.1030-1G>T
|
|
|
|
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)
|
rs794727895
|
|
|
NM_000070.3(CAPN3):c.1115+2T>C
|
rs1057524468
|
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
|
NM_000070.3(CAPN3):c.1119G>A (p.Trp373Ter)
|
|
|
|
NM_000070.3(CAPN3):c.1193+1del
|
|
|
|
NM_000070.3(CAPN3):c.1197del (p.Met399fs)
|
|
|
|
NM_000070.3(CAPN3):c.1202A>T (p.Tyr401Phe)
|
rs371784007
|
|
|
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly)
|
rs886042895
|
|
|
NM_000070.3(CAPN3):c.1309C>G (p.Arg437Gly)
|
|
|
|
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)
|
rs773827877
|
|
|
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly)
|
rs776043976
|
|
|
NM_000070.3(CAPN3):c.1354G>C (p.Asp452His)
|
rs727503838
|
|
|
NM_000070.3(CAPN3):c.1355-2A>G
|
|
|
|
NM_000070.3(CAPN3):c.1420_1433delinsC (p.Ser474fs)
|
|
|
|
NM_000070.3(CAPN3):c.1469delinsTC (p.Arg490fs)
|
rs2141199752
|
|
|
NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly)
|
rs557164942
|
|
|
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr)
|
rs1555422136
|
|
|
NM_000070.3(CAPN3):c.1524+1G>A
|
rs1275289254
|
|
|
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=)
|
rs886043432
|
|
|
NM_000070.3(CAPN3):c.1525G>T (p.Val509Phe)
|
rs1409503203
|
|
|
NM_000070.3(CAPN3):c.1536G>A (p.Glu512=)
|
|
|
|
NM_000070.3(CAPN3):c.1633C>T (p.Gln545Ter)
|
|
|
|
NM_000070.3(CAPN3):c.1642del (p.Arg548fs)
|
rs1555422293
|
|
|
NM_000070.3(CAPN3):c.1706T>C (p.Phe569Ser)
|
rs886044483
|
|
|
NM_000070.3(CAPN3):c.1715G>C (p.Arg572Pro)
|
rs121434544
|
|
|
NM_000070.3(CAPN3):c.1783-5_1784del
|
|
|
|
NM_000070.3(CAPN3):c.1807_1808dup (p.Phe604fs)
|
|
|
|
NM_000070.3(CAPN3):c.1823G>A (p.Arg608Lys)
|
|
|
|
NM_000070.3(CAPN3):c.1903C>T (p.Gln635Ter)
|
|
|
|
NM_000070.3(CAPN3):c.1910dup (p.Gln638fs)
|
|
|
|
NM_000070.3(CAPN3):c.1915-2A>C
|
|
|
|
NM_000070.3(CAPN3):c.1954C>T (p.Gln652Ter)
|
|
|
|
NM_000070.3(CAPN3):c.1993-2A>G
|
|
|
|
NM_000070.3(CAPN3):c.1996_1997del (p.Met666fs)
|
|
|
|
NM_000070.3(CAPN3):c.2051-1G>A
|
|
|
|
NM_000070.3(CAPN3):c.2092_2095dup (p.Ser699delinsThrTer)
|
|
|
|
NM_000070.3(CAPN3):c.2115+1_2115+2dup
|
rs760919949
|
|
|
NM_000070.3(CAPN3):c.2115+2T>C
|
rs1555423060
|
|
|
NM_000070.3(CAPN3):c.2116-1G>A
|
|
|
|
NM_000070.3(CAPN3):c.2117C>A (p.Thr706Lys)
|
|
|
|
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp)
|
rs770894443
|
|
|
NM_000070.3(CAPN3):c.2184+2T>G
|
|
|
|
NM_000070.3(CAPN3):c.2201del (p.Tyr734fs)
|
rs2141224217
|
|
|
NM_000070.3(CAPN3):c.2209G>A (p.Asp737Asn)
|
|
|
|
NM_000070.3(CAPN3):c.2230del (p.Ser744fs)
|
rs2054186817
|
|
|
NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter)
|
rs147774793
|
|
|
NM_000070.3(CAPN3):c.225T>A (p.Tyr75Ter)
|
|
|
|
NM_000070.3(CAPN3):c.2306G>C (p.Arg769Pro)
|
rs80338802
|
|
|
NM_000070.3(CAPN3):c.2306G>T (p.Arg769Leu)
|
|
|
|
NM_000070.3(CAPN3):c.2308dup (p.Tyr770fs)
|
|
|
|
NM_000070.3(CAPN3):c.2319dup (p.His774fs)
|
|
|
|
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter)
|
rs1447774727
|
|
|
NM_000070.3(CAPN3):c.233del (p.Pro78fs)
|
|
|
|
NM_000070.3(CAPN3):c.2340_2341del (p.Asp780fs)
|
|
|
|
NM_000070.3(CAPN3):c.2381-2A>C
|
|
|
|
NM_000070.3(CAPN3):c.2441G>A (p.Trp814Ter)
|
|
|
|
NM_000070.3(CAPN3):c.2442G>A (p.Trp814Ter)
|
|
|
|
NM_000070.3(CAPN3):c.2443C>G (p.Leu815Val)
|
|
|
|
NM_000070.3(CAPN3):c.2456_*4del (p.Met819_Ter822delinsXaa)
|
|
|
|
NM_000070.3(CAPN3):c.250G>T (p.Glu84Ter)
|
|
|
|
NM_000070.3(CAPN3):c.433del (p.Leu145fs)
|
rs2141160577
|
|
|
NM_000070.3(CAPN3):c.442G>A (p.Val148Ile)
|
|
|
|
NM_000070.3(CAPN3):c.461del (p.Ser154fs)
|
|
|
|
NM_000070.3(CAPN3):c.498+2T>C
|
|
|
|
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter)
|
rs1555420462
|
|
|
NM_000070.3(CAPN3):c.506G>A (p.Arg169His)
|
|
|
|
NM_000070.3(CAPN3):c.590G>A (p.Arg197His)
|
rs768426565
|
|
|
NM_000070.3(CAPN3):c.616del (p.Glu206fs)
|
rs2053446296
|
|
|
NM_000070.3(CAPN3):c.633-2A>C
|
|
|
|
NM_000070.3(CAPN3):c.633-2A>G
|
|
|
|
NM_000070.3(CAPN3):c.633G>T (p.Lys211Asn)
|
|
|
|
NM_000070.3(CAPN3):c.638A>G (p.His213Arg)
|
rs768447053
|
|
|
NM_000070.3(CAPN3):c.668A>C (p.Asn223Thr)
|
|
|
|
NM_000070.3(CAPN3):c.727_730delinsAT (p.Asp243fs)
|
rs1555420642
|
|
|
NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter)
|
rs757448865
|
|
|
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)
|
rs794727697
|
|
|
NM_000070.3(CAPN3):c.788G>A (p.Gly263Asp)
|
rs886042588
|
|
|
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr)
|
rs1555420765
|
|
|
NM_000070.3(CAPN3):c.848_849dup (p.Gly284fs)
|
|
|
|
NM_000070.3(CAPN3):c.883_886dup (p.Asn296delinsArgTer)
|
|
|
|
NM_000070.3(CAPN3):c.949dup (p.Ile317fs)
|
|
|
|
NM_000070.3(CAPN3):c.985G>A (p.Gly329Arg)
|
rs1085307995
|
|
|
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg)
|
rs1085307995
|
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)
|
rs587780668
|
|
|
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)
|
rs104894099
|
|
|
NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro)
|
rs754806883
|
|
|
NM_000089.4(COL1A2):c.1054G>A (p.Gly352Ser)
|
rs1064796419
|
|
|
NM_000089.4(COL1A2):c.1089+1G>A
|
|
|
|
NM_000089.4(COL1A2):c.1136G>C (p.Gly379Ala)
|
rs121912912
|
|
|
NM_000089.4(COL1A2):c.1208G>T (p.Gly403Val)
|
rs1554396271
|
|
|
NM_000089.4(COL1A2):c.1216G>T (p.Gly406Cys)
|
|
|
|
NM_000089.4(COL1A2):c.1391AAG[1] (p.Glu465del)
|
rs1791941199
|
|
|
NM_000089.4(COL1A2):c.1405G>A (p.Gly469Ser)
|
|
|
|
NM_000089.4(COL1A2):c.1423G>A (p.Gly475Ser)
|
rs755058199
|
|
|
NM_000089.4(COL1A2):c.1432G>T (p.Gly478Cys)
|
|
|
|
NM_000089.4(COL1A2):c.1477G>C (p.Gly493Arg)
|
rs1554396612
|
|
|
NM_000089.4(COL1A2):c.1504G>A (p.Gly502Ser)
|
rs121912910
|
|
|
NM_000089.4(COL1A2):c.1505G>A (p.Gly502Asp)
|
|
|
|
NM_000089.4(COL1A2):c.1514G>C (p.Gly505Ala)
|
rs1554396680
|
|
|
NM_000089.4(COL1A2):c.1541G>A (p.Gly514Asp)
|
|
|
|
NM_000089.4(COL1A2):c.1543_1551dup (p.Gly517_Ala518insLeuAlaGly)
|
|
|
|
NM_000089.4(COL1A2):c.1764+1G>T
|
rs72658140
|
|
|
NM_000089.4(COL1A2):c.1765-2del
|
|
|
|
NM_000089.4(COL1A2):c.1775G>A (p.Gly592Asp)
|
|
|
|
NM_000089.4(COL1A2):c.1793G>A (p.Gly598Asp)
|
rs72658142
|
|
|
NM_000089.4(COL1A2):c.1793G>C (p.Gly598Ala)
|
rs72658142
|
|
|
NM_000089.4(COL1A2):c.1810G>A (p.Gly604Ser)
|
|
|
|
NM_000089.4(COL1A2):c.1811G>A (p.Gly604Asp)
|
rs2115917059
|
|
|
NM_000089.4(COL1A2):c.1820G>C (p.Gly607Ala)
|
rs1792043985
|
|
|
NM_000089.4(COL1A2):c.1828G>A (p.Gly610Ser)
|
|
|
|
NM_000089.4(COL1A2):c.1837G>A (p.Gly613Arg)
|
rs1792044352
|
|
|
NM_000089.4(COL1A2):c.1838G>A (p.Gly613Glu)
|
rs2115917195
|
|
|
NM_000089.4(COL1A2):c.1854_1856del (p.Asp618_Gly619delinsGlu)
|
rs2115917306
|
|
|
NM_000089.4(COL1A2):c.1873G>T (p.Gly625Cys)
|
rs193922162
|
|
|
NM_000089.4(COL1A2):c.1874G>C (p.Gly625Ala)
|
rs72658145
|
|
|
NM_000089.4(COL1A2):c.2008G>A (p.Gly670Ser)
|
|
|
|
NM_000089.4(COL1A2):c.2026-2A>G
|
|
|
|
NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser)
|
rs1584325552
|
|
|
NM_000089.4(COL1A2):c.2036G>C (p.Gly679Ala)
|
rs2115927860
|
|
|
NM_000089.4(COL1A2):c.2053G>A (p.Gly685Ser)
|
|
|
|
NM_000089.4(COL1A2):c.2053G>T (p.Gly685Cys)
|
|
|
|
NM_000089.4(COL1A2):c.2063G>A (p.Gly688Glu)
|
rs1792108068
|
|
|
NM_000089.4(COL1A2):c.2080G>A (p.Gly694Ser)
|
rs121912908
|
|
|
NM_000089.4(COL1A2):c.2107G>T (p.Gly703Cys)
|
|
|
|
NM_000089.4(COL1A2):c.2179G>C (p.Gly727Arg)
|
|
|
|
NM_000089.4(COL1A2):c.2179G>T (p.Gly727Cys)
|
|
|
|
NM_000089.4(COL1A2):c.2206G>A (p.Gly736Ser)
|
|
|
|
NM_000089.4(COL1A2):c.2225G>C (p.Gly742Ala)
|
|
|
|
NM_000089.4(COL1A2):c.2242G>A (p.Gly748Ser)
|
rs1562905246
|
|
|
NM_000089.4(COL1A2):c.2279G>T (p.Gly760Val)
|
rs1792140624
|
|
|
NM_000089.4(COL1A2):c.2314G>C (p.Gly772Arg)
|
rs72658185
|
|
|
NM_000089.4(COL1A2):c.2330GTG[3] (p.Gly778_Asp779insGly)
|
|
|
|
NM_000089.4(COL1A2):c.2333G>C (p.Gly778Ala)
|
rs2115933783
|
|
|
NM_000089.4(COL1A2):c.2427_2435dup (p.Pro812_Ala813insProGlyPro)
|
|
|
|
NM_000089.4(COL1A2):c.2441G>A (p.Gly814Glu)
|
rs1554397975
|
|
|
NM_000089.4(COL1A2):c.2449G>T (p.Gly817Trp)
|
rs2115941022
|
|
|
NM_000089.4(COL1A2):c.2558G>C (p.Gly853Ala)
|
|
|
|
NM_000089.4(COL1A2):c.2711G>C (p.Gly904Ala)
|
|
|
|
NM_000089.4(COL1A2):c.2729G>A (p.Gly910Asp)
|
|
|
|
NM_000089.4(COL1A2):c.2737G>A (p.Gly913Ser)
|
rs1305819869
|
|
|
NM_000089.4(COL1A2):c.2738G>A (p.Gly913Asp)
|
|
|
|
NM_000089.4(COL1A2):c.280-2A>G
|
rs2115874899
|
|
|
NM_000089.4(COL1A2):c.280-2del
|
|
|
|
NM_000089.4(COL1A2):c.280G>A (p.Gly94Ser)
|
|
|
|
NM_000089.4(COL1A2):c.2810G>A (p.Gly937Asp)
|
rs1584329740
|
|
|
NM_000089.4(COL1A2):c.2837G>C (p.Gly946Ala)
|
|
|
|
NM_000089.4(COL1A2):c.2900G>T (p.Gly967Val)
|
|
|
|
NM_000089.4(COL1A2):c.2943+1G>C
|
rs1562907190
|
|
|
NM_000089.4(COL1A2):c.2962G>T (p.Gly988Cys)
|
|
|
|
NM_000089.4(COL1A2):c.2965_2973dup (p.Pro989_Gly991dup)
|
rs1554398396
|
|
|
NM_000089.4(COL1A2):c.299G>T (p.Gly100Val)
|
rs1584315950
|
|
|
NM_000089.4(COL1A2):c.3026G>C (p.Gly1009Ala)
|
|
|
|
NM_000089.4(COL1A2):c.308G>A (p.Gly103Asp)
|
|
|
|
NM_000089.4(COL1A2):c.3106G>T (p.Gly1036Cys)
|
rs72659325
|
|
|
NM_000089.4(COL1A2):c.3127G>A (p.Ala1043Thr)
|
|
|
|
NM_000089.4(COL1A2):c.3152G>C (p.Gly1051Ala)
|
rs2115957255
|
|
|
NM_000089.4(COL1A2):c.3159+1G>A
|
|
|
|
NM_000089.4(COL1A2):c.3160G>A (p.Gly1054Ser)
|
|
|
|
NM_000089.4(COL1A2):c.317G>A (p.Gly106Glu)
|
rs2115875189
|
|
|
NM_000089.4(COL1A2):c.3233G>T (p.Gly1078Val)
|
|
|
|
NM_000089.4(COL1A2):c.325G>C (p.Gly109Arg)
|
|
|
|
NM_000089.4(COL1A2):c.3260G>T (p.Gly1087Val)
|
rs72659335
|
|
|
NM_000089.4(COL1A2):c.3268G>A (p.Gly1090Ser)
|
|
|
|
NM_000089.4(COL1A2):c.334G>A (p.Gly112Ser)
|
rs1554395411
|
|
|
NM_000089.4(COL1A2):c.3583_3597del (p.Cys1195_Thr1199del)
|
rs2115962258
|
|
|
NM_000089.4(COL1A2):c.3865G>C (p.Ala1289Pro)
|
rs759477389
|
|
|
NM_000089.4(COL1A2):c.3868_3869dup (p.Ile1291fs)
|
rs1792353123
|
|
|
NM_000089.4(COL1A2):c.3950G>A (p.Cys1317Tyr)
|
rs2115967180
|
|
|
NM_000089.4(COL1A2):c.3951C>A (p.Cys1317Ter)
|
|
|
|
NM_000089.4(COL1A2):c.3971G>A (p.Trp1324Ter)
|
rs2115969692
|
|
|
NM_000089.4(COL1A2):c.398G>T (p.Gly133Val)
|
rs1562899031
|
|
|
NM_000089.4(COL1A2):c.4063G>T (p.Glu1355Ter)
|
rs760626067
|
|
|
NM_000089.4(COL1A2):c.424G>A (p.Gly142Ser)
|
|
|
|
NM_000089.4(COL1A2):c.433-2A>G
|
rs1554395471
|
|
|
NM_000089.4(COL1A2):c.451G>A (p.Gly151Arg)
|
|
|
|
NM_000089.4(COL1A2):c.487G>A (p.Gly163Ser)
|
|
|
|
NM_000089.4(COL1A2):c.488G>T (p.Gly163Val)
|
|
|
|
NM_000089.4(COL1A2):c.505G>A (p.Gly169Arg)
|
rs2115879081
|
|
|
NM_000089.4(COL1A2):c.515G>T (p.Gly172Val)
|
rs768263997
|
|
|
NM_000089.4(COL1A2):c.538_540+11del
|
|
|
|
NM_000089.4(COL1A2):c.541G>A (p.Gly181Arg)
|
rs1791793058
|
|
|
NM_000089.4(COL1A2):c.551G>A (p.Gly184Asp)
|
rs1791793398
|
|
|
NM_000089.4(COL1A2):c.595-2A>G
|
rs72656375
|
|
|
NM_000089.4(COL1A2):c.605G>T (p.Gly202Val)
|
rs72656377
|
|
|
NM_000089.4(COL1A2):c.614G>C (p.Gly205Ala)
|
|
|
|
NM_000089.4(COL1A2):c.659G>A (p.Gly220Asp)
|
|
|
|
NM_000089.4(COL1A2):c.677G>A (p.Gly226Asp)
|
rs193922173
|
|
|
NM_000089.4(COL1A2):c.685G>A (p.Gly229Ser)
|
|
|
|
NM_000089.4(COL1A2):c.693+6T>G
|
rs2115888140
|
|
|
NM_000089.4(COL1A2):c.704G>A (p.Gly235Asp)
|
|
|
|
NM_000089.4(COL1A2):c.712G>A (p.Gly238Arg)
|
|
|
|
NM_000089.4(COL1A2):c.731G>T (p.Gly244Val)
|
rs1584318303
|
|
|
NM_000089.4(COL1A2):c.749G>T (p.Gly250Val)
|
rs1562900513
|
|
|
NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala)
|
rs1584318648
|
|
|
NM_000089.4(COL1A2):c.776G>T (p.Gly259Val)
|
rs1584318648
|
|
|
NM_000089.4(COL1A2):c.784G>C (p.Gly262Arg)
|
rs1554395970
|
|
|
NM_000089.4(COL1A2):c.785G>A (p.Gly262Asp)
|
rs1791858238
|
|
|
NM_000089.4(COL1A2):c.792G>C (p.Lys264Asn)
|
rs2115890442
|
|
|
NM_000089.4(COL1A2):c.809_820del (p.Val270_Ala273del)
|
rs1584318956
|
|
|
NM_000089.4(COL1A2):c.973G>C (p.Gly325Arg)
|
|
|
|
NM_000089.4(COL1A2):c.991G>A (p.Gly331Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1006G>C (p.Gly336Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg)
|
rs794728040
|
|
|
NM_000090.4(COL3A1):c.1051-1G>C
|
rs866316633
|
|
|
NM_000090.4(COL3A1):c.1051G>A (p.Gly351Ser)
|
rs2153502271
|
|
|
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val)
|
rs587779498
|
|
|
NM_000090.4(COL3A1):c.1070G>A (p.Gly357Glu)
|
rs2153502277
|
|
|
NM_000090.4(COL3A1):c.1079G>T (p.Gly360Val)
|
|
|
|
NM_000090.4(COL3A1):c.1087G>A (p.Gly363Ser)
|
rs587779499
|
|
|
NM_000090.4(COL3A1):c.1096G>A (p.Gly366Arg)
|
rs587779696
|
|
|
NM_000090.4(COL3A1):c.1105G>C (p.Gly369Arg)
|
rs868138294
|
|
|
NM_000090.4(COL3A1):c.1115_1117del (p.Gly372_Pro373delinsAla)
|
|
|
|
NM_000090.4(COL3A1):c.1133G>A (p.Gly378Asp)
|
rs1688231067
|
|
|
NM_000090.4(COL3A1):c.1138C>T (p.Gln380Ter)
|
|
|
|
NM_000090.4(COL3A1):c.1142G>T (p.Gly381Val)
|
|
|
|
NM_000090.4(COL3A1):c.1150G>C (p.Gly384Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1151G>A (p.Gly384Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1160G>T (p.Gly387Val)
|
|
|
|
NM_000090.4(COL3A1):c.1173del (p.Pro392fs)
|
rs1553507863
|
|
|
NM_000090.4(COL3A1):c.117T>G (p.Tyr39Ter)
|
|
|
|
NM_000090.4(COL3A1):c.1187G>A (p.Gly396Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1189G>T (p.Glu397Ter)
|
rs187907868
|
|
|
NM_000090.4(COL3A1):c.1189_1194+23del
|
rs587779430
|
|
|
NM_000090.4(COL3A1):c.1196G>C (p.Gly399Ala)
|
rs1060500194
|
|
|
NM_000090.4(COL3A1):c.1213G>A (p.Gly405Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1223G>T (p.Gly408Val)
|
rs794728043
|
|
|
NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg)
|
rs587779534
|
|
|
NM_000090.4(COL3A1):c.1240G>A (p.Gly414Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1241G>A (p.Gly414Asp)
|
rs794728044
|
|
|
NM_000090.4(COL3A1):c.1241G>T (p.Gly414Val)
|
rs794728044
|
|
|
NM_000090.4(COL3A1):c.1249G>A (p.Gly417Arg)
|
rs587779637
|
|
|
NM_000090.4(COL3A1):c.1249G>C (p.Gly417Arg)
|
rs587779637
|
|
|
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)
|
rs587779692
|
|
|
NM_000090.4(COL3A1):c.1277G>A (p.Gly426Glu)
|
rs2153502383
|
|
|
NM_000090.4(COL3A1):c.1277G>T (p.Gly426Val)
|
|
|
|
NM_000090.4(COL3A1):c.1285G>A (p.Gly429Ser)
|
rs1559056179
|
|
|
NM_000090.4(COL3A1):c.1294-1G>C
|
rs1060500204
|
|
|
NM_000090.4(COL3A1):c.1295G>A (p.Gly432Asp)
|
rs1688258933
|
|
|
NM_000090.4(COL3A1):c.1303G>A (p.Gly435Ser)
|
rs886038952
|
|
|
NM_000090.4(COL3A1):c.1313G>A (p.Gly438Asp)
|
rs2153502405
|
|
|
NM_000090.4(COL3A1):c.1321G>A (p.Gly441Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1322G>A (p.Gly441Glu)
|
rs2153502406
|
|
|
NM_000090.4(COL3A1):c.1348-2A>G
|
|
|
|
NM_000090.4(COL3A1):c.1351G>A (p.Glu451Lys)
|
rs1559056438
|
|
|
NM_000090.4(COL3A1):c.1357G>T (p.Gly453Cys)
|
rs2153502433
|
|
|
NM_000090.4(COL3A1):c.1366G>A (p.Gly456Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser)
|
rs587779633
|
|
|
NM_000090.4(COL3A1):c.1421G>A (p.Gly474Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1429G>T (p.Gly477Trp)
|
rs2153502447
|
|
|
NM_000090.4(COL3A1):c.1430G>A (p.Gly477Glu)
|
rs2153502448
|
|
|
NM_000090.4(COL3A1):c.1438G>A (p.Gly480Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1457G>A (p.Gly486Asp)
|
rs1688274077
|
|
|
NM_000090.4(COL3A1):c.145C>G (p.Pro49Ala)
|
rs1234344050
|
|
|
NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter)
|
rs1057518075
|
|
|
NM_000090.4(COL3A1):c.1484G>A (p.Gly495Glu)
|
rs1057524653
|
|
|
NM_000090.4(COL3A1):c.1537G>A (p.Gly513Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1592G>C (p.Gly531Ala)
|
|
|
|
NM_000090.4(COL3A1):c.1609-1_1612del
|
|
|
|
NM_000090.4(COL3A1):c.1610G>T (p.Gly537Val)
|
|
|
|
NM_000090.4(COL3A1):c.1636G>A (p.Gly546Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1646G>A (p.Gly549Glu)
|
rs587779679
|
|
|
NM_000090.4(COL3A1):c.1663-1G>A
|
rs749145939
|
|
|
NM_000090.4(COL3A1):c.1663-1G>T
|
|
|
|
NM_000090.4(COL3A1):c.1663G>A (p.Gly555Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1694_1697del (p.Pro565fs)
|
|
|
|
NM_000090.4(COL3A1):c.1708G>A (p.Gly570Ser)
|
rs1553508238
|
|
|
NM_000090.4(COL3A1):c.1709G>A (p.Gly570Asp)
|
rs2153502685
|
|
|
NM_000090.4(COL3A1):c.1718G>A (p.Gly573Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1744G>T (p.Gly582Cys)
|
rs121912923
|
|
|
NM_000090.4(COL3A1):c.1745G>A (p.Gly582Asp)
|
rs1688322272
|
|
|
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val)
|
rs2153502692
|
|
|
NM_000090.4(COL3A1):c.1762-1G>T
|
|
|
|
NM_000090.4(COL3A1):c.1762G>A (p.Gly588Ser)
|
rs1553508338
|
|
|
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp)
|
rs587779691
|
|
|
NM_000090.4(COL3A1):c.1763G>T (p.Gly588Val)
|
rs587779691
|
|
|
NM_000090.4(COL3A1):c.1771G>T (p.Gly591Cys)
|
|
|
|
NM_000090.4(COL3A1):c.1789G>A (p.Gly597Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1808G>T (p.Gly603Val)
|
rs587779477
|
|
|
NM_000090.4(COL3A1):c.1816-2A>G
|
|
|
|
NM_000090.4(COL3A1):c.1816G>T (p.Gly606Cys)
|
|
|
|
NM_000090.4(COL3A1):c.1826G>A (p.Gly609Glu)
|
|
|
|
NM_000090.4(COL3A1):c.1826G>T (p.Gly609Val)
|
|
|
|
NM_000090.4(COL3A1):c.1834G>A (p.Gly612Ser)
|
rs2153502803
|
|
|
NM_000090.4(COL3A1):c.1835G>C (p.Gly612Ala)
|
|
|
|
NM_000090.4(COL3A1):c.1851_1855delinsAG (p.Gly618_Pro619delinsAla)
|
rs1576467133
|
|
|
NM_000090.4(COL3A1):c.1853G>A (p.Gly618Glu)
|
|
|
|
NM_000090.4(COL3A1):c.1870-2A>T
|
rs587779575
|
|
|
NM_000090.4(COL3A1):c.1915G>A (p.Gly639Arg)
|
rs587779435
|
|
|
NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu)
|
rs587779620
|
|
|
NM_000090.4(COL3A1):c.1978G>A (p.Gly660Ser)
|
rs1688384382
|
|
|
NM_000090.4(COL3A1):c.1978G>C (p.Gly660Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1987G>A (p.Gly663Ser)
|
rs587779433
|
|
|
NM_000090.4(COL3A1):c.1997G>A (p.Gly666Asp)
|
rs121912921
|
|
|
NM_000090.4(COL3A1):c.2022+1G>A
|
|
|
|
NM_000090.4(COL3A1):c.2023G>A (p.Gly675Ser)
|
rs2153502988
|
|
|
NM_000090.4(COL3A1):c.2024G>T (p.Gly675Val)
|
rs587779597
|
|
|
NM_000090.4(COL3A1):c.2032G>C (p.Gly678Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2032G>T (p.Gly678Cys)
|
|
|
|
NM_000090.4(COL3A1):c.2042G>A (p.Gly681Asp)
|
rs1173194734
|
|
|
NM_000090.4(COL3A1):c.2060G>C (p.Gly687Ala)
|
|
|
|
NM_000090.4(COL3A1):c.2067_2072del (p.Gly690_Ala691del)
|
rs1576468160
|
|
|
NM_000090.4(COL3A1):c.2078G>C (p.Gly693Ala)
|
rs587779442
|
|
|
NM_000090.4(COL3A1):c.2095G>T (p.Gly699Cys)
|
|
|
|
NM_000090.4(COL3A1):c.2105G>C (p.Gly702Ala)
|
rs587779512
|
|
|
NM_000090.4(COL3A1):c.2119_2121+11del
|
rs2153503009
|
|
|
NM_000090.4(COL3A1):c.2121+1G>C
|
rs587779675
|
|
|
NM_000090.4(COL3A1):c.2121G>T (p.Lys707Asn)
|
|
|
|
NM_000090.4(COL3A1):c.2123G>T (p.Gly708Val)
|
rs111929073
|
|
|
NM_000090.4(COL3A1):c.2140G>A (p.Gly714Arg)
|
rs587779437
|
|
|
NM_000090.4(COL3A1):c.2149G>C (p.Gly717Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2159G>A (p.Gly720Asp)
|
rs1576468332
|
|
|
NM_000090.4(COL3A1):c.2186G>C (p.Gly729Ala)
|
|
|
|
NM_000090.4(COL3A1):c.2194G>A (p.Gly732Arg)
|
rs587779606
|
|
|
NM_000090.4(COL3A1):c.2203G>A (p.Gly735Arg)
|
rs587779484
|
|
|
NM_000090.4(COL3A1):c.2222G>A (p.Gly741Asp)
|
rs553203474
|
|
|
NM_000090.4(COL3A1):c.2229+1G>A
|
rs1576468385
|
|
|
NM_000090.4(COL3A1):c.2240G>A (p.Gly747Asp)
|
rs1688417659
|
|
|
NM_000090.4(COL3A1):c.2240G>T (p.Gly747Val)
|
|
|
|
NM_000090.4(COL3A1):c.2248G>C (p.Gly750Arg)
|
rs1688418367
|
|
|
NM_000090.4(COL3A1):c.2257G>T (p.Gly753Cys)
|
rs2153503066
|
|
|
NM_000090.4(COL3A1):c.2266G>A (p.Gly756Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu)
|
rs1576468562
|
|
|
NM_000090.4(COL3A1):c.2283+1G>A
|
rs1559058970
|
|
|
NM_000090.4(COL3A1):c.2285G>T (p.Gly762Val)
|
rs587779541
|
|
|
NM_000090.4(COL3A1):c.2302G>C (p.Gly768Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2305CCT[1] (p.Pro770del)
|
rs2153503227
|
|
|
NM_000090.4(COL3A1):c.2312G>A (p.Gly771Asp)
|
rs1060500193
|
|
|
NM_000090.4(COL3A1):c.2321G>A (p.Gly774Asp)
|
|
|
|
NM_000090.4(COL3A1):c.2338-2A>T
|
|
|
|
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg)
|
rs113485686
|
|
|
NM_000090.4(COL3A1):c.2383G>T (p.Gly795Cys)
|
|
|
|
NM_000090.4(COL3A1):c.2384G>A (p.Gly795Asp)
|
|
|
|
NM_000090.4(COL3A1):c.2393G>A (p.Gly798Asp)
|
rs2153503300
|
|
|
NM_000090.4(COL3A1):c.2419G>A (p.Gly807Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2438G>T (p.Gly813Val)
|
|
|
|
NM_000090.4(COL3A1):c.2456G>A (p.Gly819Asp)
|
rs2153503368
|
|
|
NM_000090.4(COL3A1):c.2483G>A (p.Gly828Glu)
|
|
|
|
NM_000090.4(COL3A1):c.2500G>C (p.Gly834Arg)
|
rs2153503381
|
|
|
NM_000090.4(COL3A1):c.2501G>C (p.Gly834Ala)
|
rs587779642
|
|
|
NM_000090.4(COL3A1):c.2528G>T (p.Gly843Val)
|
|
|
|
NM_000090.4(COL3A1):c.2546G>C (p.Gly849Ala)
|
|
|
|
NM_000090.4(COL3A1):c.2553+5G>T
|
rs397509371
|
|
|
NM_000090.4(COL3A1):c.2554-1G>A
|
rs587779519
|
|
|
NM_000090.4(COL3A1):c.2554-2A>G
|
|
|
|
NM_000090.4(COL3A1):c.2563G>T (p.Gly855Cys)
|
rs2153503430
|
|
|
NM_000090.4(COL3A1):c.2581G>A (p.Gly861Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2609G>C (p.Gly870Ala)
|
|
|
|
NM_000090.4(COL3A1):c.2626G>C (p.Gly876Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2661+1G>A
|
|
|
|
NM_000090.4(COL3A1):c.2671G>A (p.Gly891Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2681G>C (p.Gly894Ala)
|
rs587779589
|
|
|
NM_000090.4(COL3A1):c.2716G>C (p.Gly906Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2726G>A (p.Gly909Asp)
|
rs587779483
|
|
|
NM_000090.4(COL3A1):c.2734G>A (p.Gly912Ser)
|
rs2153503495
|
|
|
NM_000090.4(COL3A1):c.2743G>A (p.Gly915Ser)
|
rs2153503498
|
|
|
NM_000090.4(COL3A1):c.2752G>A (p.Gly918Arg)
|
rs1085307896
|
|
|
NM_000090.4(COL3A1):c.2762G>A (p.Gly921Glu)
|
rs1553509187
|
|
|
NM_000090.4(COL3A1):c.2791G>A (p.Glu931Lys)
|
rs1553509193
|
|
|
NM_000090.4(COL3A1):c.2797G>A (p.Gly933Arg)
|
rs1688532582
|
|
|
NM_000090.4(COL3A1):c.2797G>T (p.Gly933Ter)
|
|
|
|
NM_000090.4(COL3A1):c.2815G>T (p.Gly939Cys)
|
rs587779550
|
|
|
NM_000090.4(COL3A1):c.2823+1G>T
|
rs587779424
|
|
|
NM_000090.4(COL3A1):c.2824G>A (p.Gly942Arg)
|
rs587779438
|
|
|
NM_000090.4(COL3A1):c.2833G>A (p.Gly945Ser)
|
rs587779567
|
|
|
NM_000090.4(COL3A1):c.2843G>A (p.Gly948Glu)
|
rs878853651
|
|
|
NM_000090.4(COL3A1):c.2860G>A (p.Gly954Arg)
|
rs587779674
|
|
|
NM_000090.4(COL3A1):c.2906G>A (p.Gly969Glu)
|
|
|
|
NM_000090.4(COL3A1):c.2914G>A (p.Gly972Ser)
|
rs587779723
|
|
|
NM_000090.4(COL3A1):c.2915G>C (p.Gly972Ala)
|
rs587779559
|
|
|
NM_000090.4(COL3A1):c.2924G>T (p.Gly975Val)
|
rs587779542
|
|
|
NM_000090.4(COL3A1):c.2950G>A (p.Gly984Arg)
|
rs2153503630
|
|
|
NM_000090.4(COL3A1):c.2959G>T (p.Gly987Cys)
|
|
|
|
NM_000090.4(COL3A1):c.2986G>A (p.Gly996Arg)
|
rs2153503634
|
|
|
NM_000090.4(COL3A1):c.3014G>C (p.Gly1005Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3032G>A (p.Gly1011Glu)
|
rs587779552
|
|
|
NM_000090.4(COL3A1):c.3040-1G>A
|
|
|
|
NM_000090.4(COL3A1):c.3040G>A (p.Gly1014Arg)
|
rs1553509391
|
|
|
NM_000090.4(COL3A1):c.3049G>A (p.Gly1017Arg)
|
rs1553509397
|
|
|
NM_000090.4(COL3A1):c.3058G>T (p.Gly1020Cys)
|
|
|
|
NM_000090.4(COL3A1):c.3077G>C (p.Gly1026Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3085G>T (p.Gly1029Cys)
|
|
|
|
NM_000090.4(COL3A1):c.3094-10_3094delinsGT
|
rs1559061674
|
|
|
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser)
|
rs587779704
|
|
|
NM_000090.4(COL3A1):c.3103G>T (p.Gly1035Cys)
|
rs587779704
|
|
|
NM_000090.4(COL3A1):c.3104G>T (p.Gly1035Val)
|
rs587779582
|
|
|
NM_000090.4(COL3A1):c.3112G>C (p.Gly1038Arg)
|
rs1559061706
|
|
|
NM_000090.4(COL3A1):c.3121G>C (p.Gly1041Arg)
|
rs1688586251
|
|
|
NM_000090.4(COL3A1):c.3122G>C (p.Gly1041Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3143_3160dup (p.Gly1053_Pro1054insHisProGlyProProGly)
|
|
|
|
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp)
|
rs1576471840
|
|
|
NM_000090.4(COL3A1):c.3158G>C (p.Gly1053Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3184G>A (p.Gly1062Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3185G>A (p.Gly1062Asp)
|
|
|
|
NM_000090.4(COL3A1):c.3202G>T (p.Gly1068Cys)
|
rs1559061954
|
|
|
NM_000090.4(COL3A1):c.3203G>A (p.Gly1068Asp)
|
|
|
|
NM_000090.4(COL3A1):c.3204CCCTGCTGG[1] (p.1069PAG[1])
|
rs771791598
|
|
|
NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val)
|
rs587779709
|
|
|
NM_000090.4(COL3A1):c.3221G>A (p.Gly1074Asp)
|
rs2153503790
|
|
|
NM_000090.4(COL3A1):c.3256-1G>A
|
rs1688619749
|
|
|
NM_000090.4(COL3A1):c.3266G>T (p.Gly1089Val)
|
rs587779672
|
|
|
NM_000090.4(COL3A1):c.3292G>C (p.Gly1098Arg)
|
rs2153503896
|
|
|
NM_000090.4(COL3A1):c.3302G>C (p.Gly1101Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3319G>A (p.Gly1107Arg)
|
rs587779561
|
|
|
NM_000090.4(COL3A1):c.3320G>C (p.Gly1107Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3328_3330del (p.Gly1110del)
|
|
|
|
NM_000090.4(COL3A1):c.3338G>A (p.Gly1113Asp)
|
|
|
|
NM_000090.4(COL3A1):c.334-2A>G
|
rs1553506938
|
|
|
NM_000090.4(COL3A1):c.3365G>T (p.Gly1122Val)
|
|
|
|
NM_000090.4(COL3A1):c.3383G>T (p.Gly1128Val)
|
rs2153503949
|
|
|
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser)
|
rs587779536
|
|
|
NM_000090.4(COL3A1):c.3392G>T (p.Gly1131Val)
|
|
|
|
NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu)
|
rs587779495
|
|
|
NM_000090.4(COL3A1):c.3440_3466del (p.Pro1147_Gly1155del)
|
rs1576472890
|
|
|
NM_000090.4(COL3A1):c.3446G>A (p.Gly1149Asp)
|
rs1688635593
|
|
|
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg)
|
rs587779715
|
|
|
NM_000090.4(COL3A1):c.3482G>A (p.Gly1161Glu)
|
rs587779473
|
|
|
NM_000090.4(COL3A1):c.3491G>A (p.Gly1164Glu)
|
rs587779431
|
|
|
NM_000090.4(COL3A1):c.3494C>T (p.Pro1165Leu)
|
rs763107572
|
|
|
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter)
|
rs587779646
|
|
|
NM_000090.4(COL3A1):c.3518G>A (p.Gly1173Glu)
|
rs121912918
|
|
|
NM_000090.4(COL3A1):c.3526-1G>C
|
|
|
|
NM_000090.4(COL3A1):c.3536G>T (p.Gly1179Val)
|
rs587779627
|
|
|
NM_000090.4(COL3A1):c.3580G>C (p.Gly1194Arg)
|
|
|
|
NM_000090.4(COL3A1):c.3581G>A (p.Gly1194Asp)
|
rs1553509744
|
|
|
NM_000090.4(COL3A1):c.3823+1G>T
|
rs1576473641
|
|
|
NM_000090.4(COL3A1):c.396del (p.Gly133fs)
|
|
|
|
NM_000090.4(COL3A1):c.4012-2A>G
|
rs1559063681
|
|
|
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)
|
rs794728060
|
|
|
NM_000090.4(COL3A1):c.4096C>T (p.Gln1366Ter)
|
rs863224860
|
|
|
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=)
|
rs587779565
|
|
|
NM_000090.4(COL3A1):c.4294C>T (p.Arg1432Ter)
|
rs587779585
|
|
|
NM_000090.4(COL3A1):c.4323_4326del (p.Ile1441fs)
|
rs2153504449
|
|
|
NM_000090.4(COL3A1):c.4367T>C (p.Phe1456Ser)
|
|
|
|
NM_000090.4(COL3A1):c.4368T>A (p.Phe1456Leu)
|
rs1688732322
|
|
|
NM_000090.4(COL3A1):c.448-1G>T
|
rs1688078187
|
|
|
NM_000090.4(COL3A1):c.511G>A (p.Gly171Ser)
|
rs2153501643
|
|
|
NM_000090.4(COL3A1):c.528+5G>A
|
rs794728038
|
|
|
NM_000090.4(COL3A1):c.529G>A (p.Gly177Ser)
|
|
|
|
NM_000090.4(COL3A1):c.530G>C (p.Gly177Ala)
|
rs2153501733
|
|
|
NM_000090.4(COL3A1):c.530G>T (p.Gly177Val)
|
rs2153501733
|
|
|
NM_000090.4(COL3A1):c.570del (p.Pro191fs)
|
|
|
|
NM_000090.4(COL3A1):c.582+5G>A
|
rs587779671
|
|
|
NM_000090.4(COL3A1):c.593G>A (p.Gly198Glu)
|
rs587779641
|
|
|
NM_000090.4(COL3A1):c.609del (p.Gly204fs)
|
|
|
|
NM_000090.4(COL3A1):c.610G>T (p.Gly204Cys)
|
|
|
|
NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp)
|
rs587779626
|
|
|
NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu)
|
rs587779596
|
|
|
NM_000090.4(COL3A1):c.656G>A (p.Gly219Asp)
|
rs587779441
|
|
|
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala)
|
rs587779533
|
|
|
NM_000090.4(COL3A1):c.682G>A (p.Gly228Arg)
|
|
|
|
NM_000090.4(COL3A1):c.718G>A (p.Gly240Arg)
|
|
|
|
NM_000090.4(COL3A1):c.721G>A (p.Glu241Lys)
|
rs1553507432
|
|
|
NM_000090.4(COL3A1):c.727G>C (p.Gly243Arg)
|
|
|
|
NM_000090.4(COL3A1):c.728G>T (p.Gly243Val)
|
rs587779629
|
|
|
NM_000090.4(COL3A1):c.745G>A (p.Gly249Ser)
|
rs2153501969
|
|
|
NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys)
|
rs587779705
|
|
|
NM_000090.4(COL3A1):c.763G>T (p.Gly255Trp)
|
|
|
|
NM_000090.4(COL3A1):c.773G>C (p.Gly258Ala)
|
rs1559054653
|
|
|
NM_000090.4(COL3A1):c.781G>C (p.Gly261Arg)
|
rs2153501976
|
|
|
NM_000090.4(COL3A1):c.782G>A (p.Gly261Asp)
|
rs587779635
|
|
|
NM_000090.4(COL3A1):c.785_786insTTT (p.Met262delinsIleLeu)
|
|
|
|
NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu)
|
rs587779604
|
|
|
NM_000090.4(COL3A1):c.80-1G>C
|
rs1559052551
|
|
|
NM_000090.4(COL3A1):c.80-2A>T
|
rs2153501340
|
|
|
NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu)
|
rs587779478
|
|
|
NM_000090.4(COL3A1):c.818G>A (p.Gly273Glu)
|
|
|
|
NM_000090.4(COL3A1):c.827G>T (p.Gly276Val)
|
rs587779644
|
|
|
NM_000090.4(COL3A1):c.835G>C (p.Gly279Arg)
|
|
|
|
NM_000090.4(COL3A1):c.852+1G>A
|
|
|
|
NM_000090.4(COL3A1):c.862G>A (p.Gly288Ser)
|
rs1333066574
|
|
|
NM_000090.4(COL3A1):c.880G>A (p.Gly294Arg)
|
rs2153502094
|
|
|
NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg)
|
rs1553507557
|
|
|
NM_000090.4(COL3A1):c.897+1G>A
|
rs1057518372
|
|
|
NM_000090.4(COL3A1):c.898-2A>T
|
|
|
|
NM_000090.4(COL3A1):c.926G>A (p.Gly309Glu)
|
rs113871730
|
|
|
NM_000090.4(COL3A1):c.944G>C (p.Gly315Ala)
|
rs587779487
|
|
|
NM_000090.4(COL3A1):c.944G>T (p.Gly315Val)
|
rs587779487
|
|
|
NM_000090.4(COL3A1):c.951+4A>T
|
rs587779598
|
|
|
NM_000090.4(COL3A1):c.952G>T (p.Gly318Cys)
|
|
|
|
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp)
|
rs1553507614
|
|
|
NM_000090.4(COL3A1):c.961G>A (p.Gly321Ser)
|
rs1688203788
|
|
|
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)
|
rs587779650
|
|
|
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp)
|
rs587779673
|
|
|
NM_000091.5(COL4A3):c.1016G>C (p.Gly339Ala)
|
|
|
|
NM_000091.5(COL4A3):c.1029+1G>C
|
|
|
|
NM_000091.5(COL4A3):c.1038T>A (p.Tyr346Ter)
|
|
|
|
NM_000091.5(COL4A3):c.1046_1047del (p.Thr349fs)
|
|
|
|
NM_000091.5(COL4A3):c.1087G>T (p.Gly363Trp)
|
|
|
|
NM_000091.5(COL4A3):c.1114+1G>A
|
rs1286895614
|
|
|
NM_000091.5(COL4A3):c.1114+1G>T
|
|
|
|
NM_000091.5(COL4A3):c.1114G>T (p.Gly372Cys)
|
|
|
|
NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg)
|
rs2125961933
|
|
|
NM_000091.5(COL4A3):c.1143_1150+1del
|
rs1274459294
|
|
|
NM_000091.5(COL4A3):c.1151-1G>A
|
|
|
|
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg)
|
rs1559878824
|
|
|
NM_000091.5(COL4A3):c.123_124delinsAA (p.Cys41_Asp42delinsTer)
|
|
|
|
NM_000091.5(COL4A3):c.1252G>A (p.Gly418Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1261G>A (p.Gly421Ser)
|
rs1363441287
|
|
|
NM_000091.5(COL4A3):c.1262del (p.Gly421fs)
|
rs2125972772
|
|
|
NM_000091.5(COL4A3):c.1271G>T (p.Gly424Val)
|
|
|
|
NM_000091.5(COL4A3):c.1274C>A (p.Ser425Ter)
|
|
|
|
NM_000091.5(COL4A3):c.1307G>C (p.Gly436Ala)
|
|
|
|
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser)
|
rs1553755124
|
|
|
NM_000091.5(COL4A3):c.1321dup (p.Ile441fs)
|
|
|
|
NM_000091.5(COL4A3):c.1345G>C (p.Gly449Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
|
|
|
|
NM_000091.5(COL4A3):c.1373G>T (p.Gly458Val)
|
|
|
|
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu)
|
rs2125981235
|
|
|
NM_000091.5(COL4A3):c.1399G>A (p.Gly467Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1400G>A (p.Gly467Glu)
|
|
|
|
NM_000091.5(COL4A3):c.1407del (p.Gly470fs)
|
rs766025194
|
|
|
NM_000091.5(COL4A3):c.1408+1G>C
|
|
|
|
NM_000091.5(COL4A3):c.1408+2T>A
|
|
|
|
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu)
|
rs2125982395
|
|
|
NM_000091.5(COL4A3):c.1477G>A (p.Gly493Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1523G>A (p.Gly508Asp)
|
|
|
|
NM_000091.5(COL4A3):c.1540G>A (p.Gly514Arg)
|
rs2071142257
|
|
|
NM_000091.5(COL4A3):c.1541G>C (p.Gly514Ala)
|
|
|
|
NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp)
|
rs1574745989
|
|
|
NM_000091.5(COL4A3):c.1585G>C (p.Gly529Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser)
|
rs779575469
|
|
|
NM_000091.5(COL4A3):c.1595G>A (p.Gly532Asp)
|
|
|
|
NM_000091.5(COL4A3):c.163G>A (p.Gly55Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1670G>A (p.Gly557Glu)
|
|
|
|
NM_000091.5(COL4A3):c.1697G>A (p.Gly566Asp)
|
|
|
|
NM_000091.5(COL4A3):c.1724G>A (p.Gly575Glu)
|
|
|
|
NM_000091.5(COL4A3):c.172G>C (p.Gly58Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1752del (p.Glu585fs)
|
|
|
|
NM_000091.5(COL4A3):c.1758+1G>A
|
rs1553757096
|
|
|
NM_000091.5(COL4A3):c.1758+3del
|
|
|
|
NM_000091.5(COL4A3):c.1777G>A (p.Gly593Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1814G>T (p.Gly605Val)
|
|
|
|
NM_000091.5(COL4A3):c.1820del (p.Pro607fs)
|
|
|
|
NM_000091.5(COL4A3):c.1822G>C (p.Gly608Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg)
|
rs1574753929
|
|
|
NM_000091.5(COL4A3):c.1832G>T (p.Gly611Val)
|
|
|
|
NM_000091.5(COL4A3):c.1841G>A (p.Gly614Glu)
|
|
|
|
NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu)
|
rs2125996486
|
|
|
NM_000091.5(COL4A3):c.1873G>C (p.Gly625Arg)
|
rs2125996501
|
|
|
NM_000091.5(COL4A3):c.1892G>C (p.Gly631Ala)
|
|
|
|
NM_000091.5(COL4A3):c.1900G>A (p.Gly634Arg)
|
rs1060499696
|
|
|
NM_000091.5(COL4A3):c.1933del (p.Arg645fs)
|
rs1559890140
|
|
|
NM_000091.5(COL4A3):c.1956_1978del (p.Pro653fs)
|
rs2071566709
|
|
|
NM_000091.5(COL4A3):c.1976G>A (p.Gly659Glu)
|
rs2071568063
|
|
|
NM_000091.5(COL4A3):c.2002G>C (p.Gly668Arg)
|
rs1559890352
|
|
|
NM_000091.5(COL4A3):c.2003_2004delinsA (p.Gly668fs)
|
|
|
|
NM_000091.5(COL4A3):c.2008C>T (p.Gln670Ter)
|
|
|
|
NM_000091.5(COL4A3):c.2011G>C (p.Gly671Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2020+1G>A
|
|
|
|
NM_000091.5(COL4A3):c.2030G>T (p.Gly677Val)
|
|
|
|
NM_000091.5(COL4A3):c.2039G>A (p.Gly680Glu)
|
|
|
|
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu)
|
rs2106132144
|
|
|
NM_000091.5(COL4A3):c.205G>T (p.Glu69Ter)
|
rs1574658390
|
|
|
NM_000091.5(COL4A3):c.2074G>A (p.Gly692Ser)
|
rs761780956
|
|
|
NM_000091.5(COL4A3):c.2126G>A (p.Gly709Glu)
|
rs1553759430
|
|
|
NM_000091.5(COL4A3):c.2135G>T (p.Gly712Val)
|
rs2071832975
|
|
|
NM_000091.5(COL4A3):c.2143G>A (p.Gly715Ser)
|
|
|
|
NM_000091.5(COL4A3):c.2180G>A (p.Gly727Glu)
|
rs2106147306
|
|
|
NM_000091.5(COL4A3):c.2188G>A (p.Gly730Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2189G>A (p.Gly730Glu)
|
rs2071838155
|
|
|
NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val)
|
rs773317939
|
|
|
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg)
|
rs375040636
|
|
|
NM_000091.5(COL4A3):c.2223+1G>A
|
rs1553759476
|
|
|
NM_000091.5(COL4A3):c.2257G>C (p.Gly753Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2267G>A (p.Gly756Asp)
|
rs1308023279
|
|
|
NM_000091.5(COL4A3):c.2267G>C (p.Gly756Ala)
|
|
|
|
NM_000091.5(COL4A3):c.2275G>A (p.Gly759Arg)
|
rs2071886531
|
|
|
NM_000091.5(COL4A3):c.227G>T (p.Gly76Val)
|
|
|
|
NM_000091.5(COL4A3):c.2284G>C (p.Gly762Arg)
|
rs983885088
|
|
|
NM_000091.5(COL4A3):c.2302G>A (p.Gly768Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2330G>A (p.Gly777Asp)
|
rs2106151987
|
|
|
NM_000091.5(COL4A3):c.2339del (p.Gly780fs)
|
|
|
|
NM_000091.5(COL4A3):c.234+1G>A
|
rs1240838887
|
|
|
NM_000091.5(COL4A3):c.234+1_234+2del
|
|
|
|
NM_000091.5(COL4A3):c.234+1del
|
|
|
|
NM_000091.5(COL4A3):c.2347G>C (p.Gly783Arg)
|
|
|
|
NM_000091.5(COL4A3):c.235-2A>T
|
|
|
|
NM_000091.5(COL4A3):c.236G>A (p.Gly79Asp)
|
|
|
|
NM_000091.5(COL4A3):c.2384G>A (p.Gly795Glu)
|
|
|
|
NM_000091.5(COL4A3):c.2390C>T (p.Pro797Leu)
|
rs1283533086
|
|
|
NM_000091.5(COL4A3):c.2390del (p.Pro797fs)
|
|
|
|
NM_000091.5(COL4A3):c.2392G>A (p.Gly798Arg)
|
|
|
|
NM_000091.5(COL4A3):c.245G>T (p.Gly82Val)
|
|
|
|
NM_000091.5(COL4A3):c.2497G>A (p.Gly833Ser)
|
rs2072039168
|
|
|
NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp)
|
rs779489401
|
|
|
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu)
|
rs2072040353
|
|
|
NM_000091.5(COL4A3):c.2507G>T (p.Gly836Val)
|
|
|
|
NM_000091.5(COL4A3):c.2564_2565del (p.Thr855fs)
|
|
|
|
NM_000091.5(COL4A3):c.2584G>A (p.Gly862Ser)
|
rs1574782666
|
|
|
NM_000091.5(COL4A3):c.2584G>C (p.Gly862Arg)
|
rs1574782666
|
|
|
NM_000091.5(COL4A3):c.2593G>A (p.Gly865Ser)
|
rs1559897190
|
|
|
NM_000091.5(COL4A3):c.2602G>C (p.Gly868Arg)
|
rs2106164384
|
|
|
NM_000091.5(COL4A3):c.2603G>T (p.Gly868Val)
|
|
|
|
NM_000091.5(COL4A3):c.2612G>A (p.Gly871Asp)
|
rs1402894646
|
|
|
NM_000091.5(COL4A3):c.2621del (p.Gly874fs)
|
rs759043857
|
|
|
NM_000091.5(COL4A3):c.2629G>A (p.Gly877Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2647G>A (p.Gly883Arg)
|
rs1559897288
|
|
|
NM_000091.5(COL4A3):c.2656+1G>T
|
|
|
|
NM_000091.5(COL4A3):c.2657-1G>A
|
|
|
|
NM_000091.5(COL4A3):c.2666G>T (p.Gly889Val)
|
|
|
|
NM_000091.5(COL4A3):c.2684G>A (p.Gly895Asp)
|
rs1553760558
|
|
|
NM_000091.5(COL4A3):c.2693G>A (p.Gly898Glu)
|
|
|
|
NM_000091.5(COL4A3):c.2711G>A (p.Gly904Glu)
|
|
|
|
NM_000091.5(COL4A3):c.2719G>T (p.Gly907Trp)
|
|
|
|
NM_000091.5(COL4A3):c.272G>T (p.Gly91Val)
|
|
|
|
NM_000091.5(COL4A3):c.2756G>T (p.Gly919Val)
|
|
|
|
NM_000091.5(COL4A3):c.275dup (p.Arg93fs)
|
|
|
|
NM_000091.5(COL4A3):c.2765G>A (p.Gly922Glu)
|
|
|
|
NM_000091.5(COL4A3):c.279+1G>A
|
rs202001097
|
|
|
NM_000091.5(COL4A3):c.279+1G>C
|
|
|
|
NM_000091.5(COL4A3):c.279+1G>T
|
rs202001097
|
|
|
NM_000091.5(COL4A3):c.280-1G>A
|
|
|
|
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs)
|
rs1553760802
|
|
|
NM_000091.5(COL4A3):c.2863G>A (p.Gly955Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2864G>A (p.Gly955Glu)
|
|
|
|
NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val)
|
|
|
|
NM_000091.5(COL4A3):c.289G>A (p.Gly97Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2945G>A (p.Gly982Asp)
|
|
|
|
NM_000091.5(COL4A3):c.2954G>A (p.Gly985Glu)
|
|
|
|
NM_000091.5(COL4A3):c.2957_2972del (p.Leu986fs)
|
|
|
|
NM_000091.5(COL4A3):c.2962G>C (p.Gly988Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2981G>A (p.Gly994Asp)
|
rs1574803132
|
|
|
NM_000091.5(COL4A3):c.3007G>A (p.Gly1003Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3016G>A (p.Gly1006Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3026G>C (p.Gly1009Ala)
|
rs1204230457
|
|
|
NM_000091.5(COL4A3):c.3035G>A (p.Gly1012Asp)
|
|
|
|
NM_000091.5(COL4A3):c.303_324+18del
|
|
|
|
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu)
|
rs121912826
|
|
|
NM_000091.5(COL4A3):c.3061G>A (p.Gly1021Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs)
|
rs1064796094
|
|
|
NM_000091.5(COL4A3):c.3070+1G>A
|
rs2106206598
|
|
|
NM_000091.5(COL4A3):c.3071-2A>G
|
|
|
|
NM_000091.5(COL4A3):c.3079G>A (p.Gly1027Arg)
|
|
|
|
NM_000091.5(COL4A3):c.308G>A (p.Gly103Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3097G>A (p.Gly1033Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3106G>A (p.Gly1036Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3116G>A (p.Gly1039Glu)
|
rs2072647561
|
|
|
NM_000091.5(COL4A3):c.3133G>C (p.Gly1045Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val)
|
rs2072649241
|
|
|
NM_000091.5(COL4A3):c.317G>C (p.Gly106Ala)
|
|
|
|
NM_000091.5(COL4A3):c.317G>T (p.Gly106Val)
|
|
|
|
NM_000091.5(COL4A3):c.3203G>A (p.Gly1068Glu)
|
|
|
|
NM_000091.5(COL4A3):c.3211-1G>T
|
|
|
|
NM_000091.5(COL4A3):c.324+1G>A
|
rs2125906801
|
|
|
NM_000091.5(COL4A3):c.3248G>A (p.Gly1083Glu)
|
|
|
|
NM_000091.5(COL4A3):c.3256G>A (p.Gly1086Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu)
|
rs1574813350
|
|
|
NM_000091.5(COL4A3):c.3275G>A (p.Gly1092Glu)
|
|
|
|
NM_000091.5(COL4A3):c.3302G>A (p.Gly1101Glu)
|
rs560592940
|
|
|
NM_000091.5(COL4A3):c.3310G>C (p.Gly1104Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3311G>C (p.Gly1104Ala)
|
|
|
|
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])
|
rs756539994
|
|
|
NM_000091.5(COL4A3):c.3337+1del
|
rs1350835100
|
|
|
NM_000091.5(COL4A3):c.3338-1G>A
|
|
|
|
NM_000091.5(COL4A3):c.3342dup (p.Pro1115fs)
|
|
|
|
NM_000091.5(COL4A3):c.3383G>A (p.Gly1128Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3395del (p.Pro1132fs)
|
|
|
|
NM_000091.5(COL4A3):c.3409G>A (p.Gly1137Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3409G>C (p.Gly1137Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3418G>C (p.Gly1140Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3418G>T (p.Gly1140Cys)
|
|
|
|
NM_000091.5(COL4A3):c.3419-2A>C
|
|
|
|
NM_000091.5(COL4A3):c.3427G>A (p.Gly1143Arg)
|
|
|
|
NM_000091.5(COL4A3):c.344G>C (p.Gly115Ala)
|
|
|
|
NM_000091.5(COL4A3):c.3454G>A (p.Gly1152Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3455G>A (p.Gly1152Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser)
|
rs774583962
|
|
|
NM_000091.5(COL4A3):c.3463_3464delinsAA (p.Gly1155Asn)
|
|
|
|
NM_000091.5(COL4A3):c.3491G>A (p.Gly1164Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3517+1G>T
|
|
|
|
NM_000091.5(COL4A3):c.3539G>A (p.Gly1180Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)
|
rs1175052474
|
|
|
NM_000091.5(COL4A3):c.3556G>C (p.Gly1186Arg)
|
rs1305836268
|
|
|
NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu)
|
rs1574823172
|
|
|
NM_000091.5(COL4A3):c.357del (p.Val120fs)
|
|
|
|
NM_000091.5(COL4A3):c.3629G>A (p.Gly1210Glu)
|
rs1574823355
|
|
|
NM_000091.5(COL4A3):c.3671del (p.Pro1224fs)
|
rs764376138
|
|
|
NM_000091.5(COL4A3):c.3672del (p.Pro1226fs)
|
rs2073096212
|
|
|
NM_000091.5(COL4A3):c.3674G>A (p.Gly1225Glu)
|
|
|
|
NM_000091.5(COL4A3):c.3682G>A (p.Gly1228Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg)
|
rs1559913871
|
|
|
NM_000091.5(COL4A3):c.3683G>A (p.Gly1228Asp)
|
|
|
|
NM_000091.5(COL4A3):c.370G>C (p.Gly124Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3715G>A (p.Gly1239Arg)
|
rs2106247498
|
|
|
NM_000091.5(COL4A3):c.3737C>G (p.Ser1246Ter)
|
|
|
|
NM_000091.5(COL4A3):c.3742G>C (p.Gly1248Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3821G>A (p.Gly1274Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3839G>A (p.Gly1280Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3856G>A (p.Gly1286Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3875G>C (p.Gly1292Ala)
|
|
|
|
NM_000091.5(COL4A3):c.388-1G>T
|
rs1553750900
|
|
|
NM_000091.5(COL4A3):c.388-2A>G
|
rs2069361375
|
|
|
NM_000091.5(COL4A3):c.3882+5G>C
|
|
|
|
NM_000091.5(COL4A3):c.3892G>C (p.Gly1298Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3902G>A (p.Gly1301Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3919G>A (p.Gly1307Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3920G>A (p.Gly1307Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3947G>T (p.Gly1316Val)
|
|
|
|
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser)
|
rs759739044
|
|
|
NM_000091.5(COL4A3):c.3964G>T (p.Gly1322Cys)
|
|
|
|
NM_000091.5(COL4A3):c.3965G>A (p.Gly1322Asp)
|
|
|
|
NM_000091.5(COL4A3):c.4009G>A (p.Gly1337Arg)
|
|
|
|
NM_000091.5(COL4A3):c.4019G>A (p.Gly1340Glu)
|
rs748901402
|
|
|
NM_000091.5(COL4A3):c.4027+1del
|
|
|
|
NM_000091.5(COL4A3):c.4028-2A>C
|
|
|
|
NM_000091.5(COL4A3):c.4028-2A>G
|
|
|
|
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)
|
rs2073401281
|
|
|
NM_000091.5(COL4A3):c.4108G>A (p.Gly1370Arg)
|
|
|
|
NM_000091.5(COL4A3):c.4154G>A (p.Gly1385Glu)
|
|
|
|
NM_000091.5(COL4A3):c.4171G>A (p.Gly1391Ser)
|
|
|
|
NM_000091.5(COL4A3):c.4190G>A (p.Gly1397Glu)
|
|
|
|
NM_000091.5(COL4A3):c.4199G>A (p.Gly1400Glu)
|
|
|
|
NM_000091.5(COL4A3):c.4207G>A (p.Gly1403Arg)
|
|
|
|
NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val)
|
rs2073446714
|
|
|
NM_000091.5(COL4A3):c.4252G>C (p.Gly1418Arg)
|
|
|
|
NM_000091.5(COL4A3):c.4265C>G (p.Ser1422Ter)
|
rs2106283830
|
|
|
NM_000091.5(COL4A3):c.4265_4273del (p.Ser1422_Gly1424del)
|
|
|
|
NM_000091.5(COL4A3):c.4289G>A (p.Gly1430Glu)
|
|
|
|
NM_000091.5(COL4A3):c.4289G>T (p.Gly1430Val)
|
|
|
|
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs)
|
rs776244020
|
|
|
NM_000091.5(COL4A3):c.4357C>T (p.Gln1453Ter)
|
|
|
|
NM_000091.5(COL4A3):c.443G>A (p.Gly148Asp)
|
|
|
|
NM_000091.5(COL4A3):c.448del (p.Ala150fs)
|
|
|
|
NM_000091.5(COL4A3):c.4531_4534del (p.Cys1511fs)
|
|
|
|
NM_000091.5(COL4A3):c.4644C>A (p.Cys1548Ter)
|
rs1574842143
|
|
|
NM_000091.5(COL4A3):c.468+1G>T
|
rs1553751122
|
|
|
NM_000091.5(COL4A3):c.468+1del
|
rs1553751120
|
|
|
NM_000091.5(COL4A3):c.4802del (p.Pro1601fs)
|
rs867868993
|
|
|
NM_000091.5(COL4A3):c.4825del (p.Arg1609fs)
|
rs2073715263
|
|
|
NM_000091.5(COL4A3):c.4887_4888del (p.Tyr1629_Ser1630delinsTer)
|
|
|
|
NM_000091.5(COL4A3):c.4928G>A (p.Arg1643Lys)
|
rs2106295155
|
|
|
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa)
|
rs765655100
|
|
|
NM_000091.5(COL4A3):c.519_520delinsAA (p.Gly174Arg)
|
rs1574681401
|
|
|
NM_000091.5(COL4A3):c.522dup (p.Leu175fs)
|
rs761358728
|
|
|
NM_000091.5(COL4A3):c.529G>A (p.Gly177Arg)
|
|
|
|
NM_000091.5(COL4A3):c.539G>A (p.Gly180Glu)
|
|
|
|
NM_000091.5(COL4A3):c.560_563del (p.Pro187fs)
|
rs749348004
|
|
|
NM_000091.5(COL4A3):c.576_593del (p.Val194_Pro199del)
|
|
|
|
NM_000091.5(COL4A3):c.584G>T (p.Gly195Val)
|
|
|
|
NM_000091.5(COL4A3):c.602G>A (p.Gly201Glu)
|
|
|
|
NM_000091.5(COL4A3):c.610-1G>A
|
|
|
|
NM_000091.5(COL4A3):c.646G>T (p.Gly216Cys)
|
rs1169752185
|
|
|
NM_000091.5(COL4A3):c.655G>T (p.Gly219Cys)
|
|
|
|
NM_000091.5(COL4A3):c.656G>A (p.Gly219Asp)
|
|
|
|
NM_000091.5(COL4A3):c.656G>T (p.Gly219Val)
|
rs2069900248
|
|
|
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser)
|
rs2125932297
|
|
|
NM_000091.5(COL4A3):c.689dup
|
|
|
|
NM_000091.5(COL4A3):c.697G>A (p.Gly233Arg)
|
rs2125932350
|
|
|
NM_000091.5(COL4A3):c.698G>T (p.Gly233Val)
|
|
|
|
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu)
|
rs1574699782
|
|
|
NM_000091.5(COL4A3):c.716dup (p.Pro240fs)
|
|
|
|
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu)
|
rs1574699806
|
|
|
NM_000091.5(COL4A3):c.765G>T (p.Thr255=)
|
rs869025328
|
|
|
NM_000091.5(COL4A3):c.766-2A>T
|
|
|
|
NM_000091.5(COL4A3):c.782del (p.Lys261fs)
|
|
|
|
NM_000091.5(COL4A3):c.802G>A (p.Gly268Ser)
|
|
|
|
NM_000091.5(COL4A3):c.821G>A (p.Gly274Glu)
|
|
|
|
NM_000091.5(COL4A3):c.829-1G>A
|
|
|
|
NM_000091.5(COL4A3):c.833dup (p.Pro279fs)
|
rs1363680371
|
|
|
NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg)
|
rs2070035662
|
|
|
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu)
|
rs1425230568
|
|
|
NM_000091.5(COL4A3):c.880G>C (p.Gly294Arg)
|
rs2125936494
|
|
|
NM_000091.5(COL4A3):c.917G>T (p.Gly306Val)
|
|
|
|
NM_000091.5(COL4A3):c.943G>A (p.Gly315Ser)
|
|
|
|
NM_000091.5(COL4A3):c.944G>A (p.Gly315Asp)
|
|
|
|
NM_000091.5(COL4A3):c.952G>A (p.Gly318Ser)
|
|
|
|
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp)
|
rs1559872489
|
|
|
NM_000091.5(COL4A3):c.962G>C (p.Gly321Ala)
|
|
|
|
NM_000091.5(COL4A3):c.987+1G>T
|
|
|
|
NM_000091.5(COL4A3):c.988-5_988delinsAT
|
|
|
|
NM_000091.5(COL4A3):c.997G>C (p.Gly333Arg)
|
|
|
|
NM_000092.5(COL4A4):c.1030-1G>C
|
rs1559620132
|
|
|
NM_000092.5(COL4A4):c.1030-2A>C
|
rs1553681714
|
|
|
NM_000092.5(COL4A4):c.1192_1195dup (p.Ala399fs)
|
rs2060340440
|
|
|
NM_000092.5(COL4A4):c.1424G>T (p.Gly475Val)
|
rs1559594442
|
|
|
NM_000092.5(COL4A4):c.1580del (p.Gly527fs)
|
rs2059732983
|
|
|
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser)
|
rs1559563525
|
|
|
NM_000092.5(COL4A4):c.1907G>A (p.Gly636Asp)
|
rs1559563141
|
|
|
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del)
|
rs1553658892
|
|
|
NM_000092.5(COL4A4):c.2160_2163dup (p.Gly722fs)
|
rs1976595425
|
|
|
NM_000092.5(COL4A4):c.3101C>A (p.Ser1034Ter)
|
rs1576129421
|
|
|
NM_000092.5(COL4A4):c.3389G>T (p.Gly1130Val)
|
|
|
|
NM_000092.5(COL4A4):c.3638G>T (p.Gly1213Val)
|
rs1559455617
|
|
|
NM_000092.5(COL4A4):c.3875G>A (p.Gly1292Asp)
|
rs971779449
|
|
|
NM_000092.5(COL4A4):c.4063G>A (p.Gly1355Arg)
|
rs1553624029
|
|
|
NM_000092.5(COL4A4):c.4090G>T (p.Gly1364Cys)
|
rs1553622675
|
|
|
NM_000092.5(COL4A4):c.4349_4366del (p.Ile1450_Pro1455del)
|
rs2149745228
|
|
|
NM_000092.5(COL4A4):c.436G>A (p.Gly146Ser)
|
rs886055729
|
|
|
NM_000092.5(COL4A4):c.4760dup (p.Cys1588fs)
|
rs1206142672
|
|
|
NM_000092.5(COL4A4):c.595G>T (p.Gly199Ter)
|
rs750345987
|
|
|
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val)
|
rs1559646395
|
|
|
NM_000092.5(COL4A4):c.693G>A (p.Lys231=)
|
rs1559644463
|
|
|
NM_000092.5(COL4A4):c.710del (p.Gly237fs)
|
rs2060994755
|
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
|
NM_000092.5(COL4A4):c.836G>A (p.Gly279Glu)
|
rs2060622881
|
|
|
NM_000092.5(COL4A4):c.903dup (p.Gly302fs)
|
rs1559628183
|
|
|
NM_000092.5(COL4A4):c.941G>T (p.Gly314Val)
|
rs1005389790
|
|
|
NM_000093.5(COL5A1):c.109+1G>A
|
|
|
|
NM_000093.5(COL5A1):c.110-1G>C
|
rs1833255504
|
|
|
NM_000093.5(COL5A1):c.1332+1G>T
|
rs1064796684
|
|
|
NM_000093.5(COL5A1):c.1431+1G>A
|
|
|
|
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys)
|
rs1835194794
|
|
|
NM_000093.5(COL5A1):c.1433G>C (p.Gly478Ala)
|
|
|
|
NM_000093.5(COL5A1):c.1441G>A (p.Gly481Arg)
|
rs1835194865
|
|
|
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser)
|
rs878853652
|
|
|
NM_000093.5(COL5A1):c.1569+1G>A
|
rs2132682690
|
|
|
NM_000093.5(COL5A1):c.1633C>T (p.Gln545Ter)
|
rs895691193
|
|
|
NM_000093.5(COL5A1):c.1662+1G>A
|
rs1835753446
|
|
|
NM_000093.5(COL5A1):c.1720-1G>A
|
rs1835880166
|
|
|
NM_000093.5(COL5A1):c.1774-1G>A
|
rs2132690733
|
|
|
NM_000093.5(COL5A1):c.1910G>T (p.Gly637Val)
|
rs777506210
|
|
|
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter)
|
rs1833258579
|
|
|
NM_000093.5(COL5A1):c.2088+2T>G
|
|
|
|
NM_000093.5(COL5A1):c.2134-2_2150dup
|
|
|
|
NM_000093.5(COL5A1):c.2331+1G>A
|
|
|
|
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys)
|
rs2132747882
|
|
|
NM_000093.5(COL5A1):c.2429_2430+26del
|
|
|
|
NM_000093.5(COL5A1):c.2431-1G>A
|
|
|
|
NM_000093.5(COL5A1):c.2484+1G>T
|
rs1564455577
|
|
|
NM_000093.5(COL5A1):c.2488G>T (p.Glu830Ter)
|
rs1837403402
|
|
|
NM_000093.5(COL5A1):c.2512G>A (p.Gly838Arg)
|
|
|
|
NM_000093.5(COL5A1):c.2646+1G>A
|
|
|
|
NM_000093.5(COL5A1):c.2700+2T>C
|
rs1588551226
|
|
|
NM_000093.5(COL5A1):c.2701-1G>A
|
|
|
|
NM_000093.5(COL5A1):c.278-1G>T
|
|
|
|
NM_000093.5(COL5A1):c.2899-1G>A
|
|
|
|
NM_000093.5(COL5A1):c.3006+1G>A
|
|
|
|
NM_000093.5(COL5A1):c.3114+1G>A
|
rs1838169083
|
|
|
NM_000093.5(COL5A1):c.3205-1G>A
|
|
|
|
NM_000093.5(COL5A1):c.3205-1G>C
|
|
|
|
NM_000093.5(COL5A1):c.3379_3382del (p.Pro1127fs)
|
|
|
|
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg)
|
rs1838467288
|
|
|
NM_000093.5(COL5A1):c.3529-1G>T
|
rs1588577214
|
|
|
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs)
|
rs786205100
|
|
|
NM_000093.5(COL5A1):c.3874G>A (p.Glu1292Lys)
|
rs1319735007
|
|
|
NM_000093.5(COL5A1):c.4015-1G>A
|
|
|
|
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs)
|
rs758337699
|
|
|
NM_000093.5(COL5A1):c.4069-1G>T
|
rs1564478485
|
|
|
NM_000093.5(COL5A1):c.4176+1G>T
|
|
|
|
NM_000093.5(COL5A1):c.4231-2A>G
|
|
|
|
NM_000093.5(COL5A1):c.4338+1G>A
|
rs1564481053
|
|
|
NM_000093.5(COL5A1):c.4393-1G>A
|
|
|
|
NM_000093.5(COL5A1):c.4434dup (p.Lys1479fs)
|
|
|
|
NM_000093.5(COL5A1):c.4465G>A (p.Gly1489Arg)
|
rs1838935159
|
|
|
NM_000093.5(COL5A1):c.4554+1G>C
|
rs1564482508
|
|
|
NM_000093.5(COL5A1):c.474_491+24del
|
|
|
|
NM_000093.5(COL5A1):c.4804_4805insCGTTCTCTACCAGCTGC (p.Val1602fs)
|
rs1839191116
|
|
|
NM_000093.5(COL5A1):c.4916G>A (p.Cys1639Tyr)
|
|
|
|
NM_000093.5(COL5A1):c.4955-1G>C
|
|
|
|
NM_000093.5(COL5A1):c.5038T>C (p.Cys1680Arg)
|
|
|
|
NM_000093.5(COL5A1):c.5067+1G>A
|
rs1839245948
|
|
|
NM_000093.5(COL5A1):c.5136+68_5136+73delinsT
|
rs1839542247
|
|
|
NM_000093.5(COL5A1):c.5136_5136+8delinsTGAATTCCCAC
|
rs1839537297
|
|
|
NM_000093.5(COL5A1):c.5141_5143del (p.Ser1714del)
|
rs1060502250
|
|
|
NM_000093.5(COL5A1):c.515T>A (p.Val172Asp)
|
rs1554781678
|
|
|
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn)
|
rs1588615451
|
|
|
NM_000093.5(COL5A1):c.5241C>A (p.Tyr1747Ter)
|
|
|
|
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter)
|
rs1588621711
|
|
|
NM_000093.5(COL5A1):c.5502_5503delinsCG (p.Cys1835Gly)
|
|
|
|
NM_000093.5(COL5A1):c.5504G>C (p.Cys1835Ser)
|
rs1060502246
|
|
|
NM_000093.5(COL5A1):c.655-1917_690del
|
|
|
|
NM_000093.5(COL5A1):c.655-1G>A
|
|
|
|
NM_000093.5(COL5A1):c.655-2A>G
|
rs786205101
|
|
|
NM_000093.5(COL5A1):c.655-2A>T
|
rs786205101
|
|
|
NM_000093.5(COL5A1):c.655-2del
|
|
|
|
NM_000093.5(COL5A1):c.786+1G>A
|
|
|
|
NM_000093.5(COL5A1):c.786+5G>T
|
|
|
|
NM_000093.5(COL5A1):c.849del (p.Glu284fs)
|
rs1588477255
|
|
|
NM_000093.5(COL5A1):c.925-2A>C
|
rs2132639011
|
|
|
NM_000138.4(FBN1):c.3465_3466delinsAAG (p.Asp1155fs)
|
rs1555398527
|
|
|
NM_000138.4(FBN1):c.5470_5471delinsAT (p.Cys1824Ile)
|
rs1555396205
|
|
|
NM_000138.4(FBN1):c.7930delGins34 (p.?)
|
|
|
|
NM_000138.5(FBN1):c.1006T>C (p.Cys336Arg)
|
rs1555400612
|
|
|
NM_000138.5(FBN1):c.1006T>G (p.Cys336Gly)
|
rs1555400612
|
|
|
NM_000138.5(FBN1):c.1007G>A (p.Cys336Tyr)
|
rs2141336245
|
|
|
NM_000138.5(FBN1):c.1072T>A (p.Cys358Ser)
|
|
|
|
NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr)
|
rs1555400606
|
|
|
NM_000138.5(FBN1):c.1075T>C (p.Cys359Arg)
|
rs1555400604
|
|
|
NM_000138.5(FBN1):c.1076G>A (p.Cys359Tyr)
|
rs1555400603
|
|
|
NM_000138.5(FBN1):c.1079G>A (p.Cys360Tyr)
|
rs1555400601
|
|
|
NM_000138.5(FBN1):c.1097G>C (p.Trp366Ser)
|
|
|
|
NM_000138.5(FBN1):c.1098G>C (p.Trp366Cys)
|
rs1555400595
|
|
|
NM_000138.5(FBN1):c.1098G>T (p.Trp366Cys)
|
rs1555400595
|
|
|
NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg)
|
rs886039066
|
|
|
NM_000138.5(FBN1):c.1129T>G (p.Cys377Gly)
|
|
|
|
NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr)
|
rs1597583989
|
|
|
NM_000138.5(FBN1):c.1147+2T>A
|
rs2141335915
|
|
|
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys)
|
rs794728325
|
|
|
NM_000138.5(FBN1):c.1148-13T>A
|
|
|
|
NM_000138.5(FBN1):c.1156_1167del (p.Asn386_Cys389del)
|
rs672601352
|
|
|
NM_000138.5(FBN1):c.1160del (p.Lys387fs)
|
|
|
|
NM_000138.5(FBN1):c.1167C>A (p.Cys389Ter)
|
rs746201757
|
|
|
NM_000138.5(FBN1):c.1211del (p.Pro404fs)
|
rs112289537
|
|
|
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)
|
rs112645512
|
|
|
NM_000138.5(FBN1):c.1328-1G>T
|
|
|
|
NM_000138.5(FBN1):c.1328-2A>G
|
|
|
|
NM_000138.5(FBN1):c.1378T>A (p.Cys460Ser)
|
rs1597581005
|
|
|
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr)
|
rs1597581001
|
|
|
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys)
|
rs587782943
|
|
|
NM_000138.5(FBN1):c.1391del (p.Arg464fs)
|
rs1555400385
|
|
|
NM_000138.5(FBN1):c.1402A>G (p.Thr468Ala)
|
rs2043792730
|
|
|
NM_000138.5(FBN1):c.1420T>G (p.Cys474Gly)
|
rs1555400380
|
|
|
NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe)
|
rs794728166
|
|
|
NM_000138.5(FBN1):c.1426T>C (p.Cys476Arg)
|
rs794728326
|
|
|
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)
|
rs137854485
|
|
|
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)
|
rs1555400373
|
|
|
NM_000138.5(FBN1):c.1462T>G (p.Cys488Gly)
|
rs1555400373
|
|
|
NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr)
|
rs1555400372
|
|
|
NM_000138.5(FBN1):c.1463G>T (p.Cys488Phe)
|
rs1555400372
|
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
|
NM_000138.5(FBN1):c.1468G>A (p.Asp490Asn)
|
rs1555400371
|
|
|
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr)
|
rs1555400371
|
|
|
NM_000138.5(FBN1):c.1481G>A (p.Cys494Tyr)
|
rs1057518881
|
|
|
NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser)
|
rs1057518881
|
|
|
NM_000138.5(FBN1):c.1495T>G (p.Cys499Gly)
|
rs2043778680
|
|
|
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr)
|
rs587782944
|
|
|
NM_000138.5(FBN1):c.1510T>C (p.Cys504Arg)
|
rs1555400288
|
|
|
NM_000138.5(FBN1):c.1525G>T (p.Gly509Cys)
|
rs1060501073
|
|
|
NM_000138.5(FBN1):c.1537T>C (p.Cys513Arg)
|
rs1555400279
|
|
|
NM_000138.5(FBN1):c.1538G>C (p.Cys513Ser)
|
rs1060501036
|
|
|
NM_000138.5(FBN1):c.1538G>T (p.Cys513Phe)
|
rs1060501036
|
|
|
NM_000138.5(FBN1):c.1543T>G (p.Cys515Gly)
|
|
|
|
NM_000138.5(FBN1):c.1561_1562del (p.Ser521fs)
|
rs397515758
|
|
|
NM_000138.5(FBN1):c.1571del (p.Thr524fs)
|
rs886038817
|
|
|
NM_000138.5(FBN1):c.1588+1G>A
|
rs2141327634
|
|
|
NM_000138.5(FBN1):c.1589-1217G>T
|
|
|
|
NM_000138.5(FBN1):c.1589-14A>G
|
rs1566915335
|
|
|
NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr)
|
rs397515759
|
|
|
NM_000138.5(FBN1):c.1616G>A (p.Arg539Gln)
|
|
|
|
NM_000138.5(FBN1):c.1617del (p.Ile540fs)
|
rs1555400066
|
|
|
NM_000138.5(FBN1):c.1622G>T (p.Cys541Phe)
|
rs1555400064
|
|
|
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
|
rs730880099
|
|
|
NM_000138.5(FBN1):c.1634G>C (p.Arg545Pro)
|
rs193922179
|
|
|
NM_000138.5(FBN1):c.1636T>C (p.Cys546Arg)
|
rs1555400062
|
|
|
NM_000138.5(FBN1):c.1637G>A (p.Cys546Tyr)
|
|
|
|
NM_000138.5(FBN1):c.164+1G>A
|
rs794728213
|
|
|
NM_000138.5(FBN1):c.164+1G>T
|
rs794728213
|
|
|
NM_000138.5(FBN1):c.164+1del
|
rs1555407399
|
|
|
NM_000138.5(FBN1):c.164+2T>C
|
rs727503058
|
|
|
NM_000138.5(FBN1):c.164G>A (p.Gly55Glu)
|
rs2140787387
|
|
|
NM_000138.5(FBN1):c.1664G>A (p.Cys555Tyr)
|
rs794728172
|
|
|
NM_000138.5(FBN1):c.1669T>C (p.Cys557Arg)
|
rs2141323348
|
|
|
NM_000138.5(FBN1):c.1669_1677dup (p.Cys557_Ala559dup)
|
rs193922181
|
|
|
NM_000138.5(FBN1):c.1670G>A (p.Cys557Tyr)
|
rs1057521102
|
|
|
NM_000138.5(FBN1):c.1671T>G (p.Cys557Trp)
|
rs2141323336
|
|
|
NM_000138.5(FBN1):c.1677_1678insAT (p.Gly560fs)
|
|
|
|
NM_000138.5(FBN1):c.1678G>A (p.Gly560Ser)
|
rs1064794283
|
|
|
NM_000138.5(FBN1):c.1678G>T (p.Gly560Cys)
|
rs1064794283
|
|
|
NM_000138.5(FBN1):c.1679G>A (p.Gly560Asp)
|
rs1555400052
|
|
|
NM_000138.5(FBN1):c.1679G>T (p.Gly560Val)
|
rs1555400052
|
|
|
NM_000138.5(FBN1):c.1709del (p.Cys570fs)
|
rs193922182
|
|
|
NM_000138.5(FBN1):c.1714+1G>T
|
rs2043745437
|
|
|
NM_000138.5(FBN1):c.1714+2T>C
|
rs2141323212
|
|
|
NM_000138.5(FBN1):c.1714+2del
|
rs876657645
|
|
|
NM_000138.5(FBN1):c.1715A>T (p.Asp572Val)
|
rs1555399976
|
|
|
NM_000138.5(FBN1):c.1727G>A (p.Cys576Tyr)
|
rs1555399974
|
|
|
NM_000138.5(FBN1):c.1737del (p.Asn580fs)
|
|
|
|
NM_000138.5(FBN1):c.1744_1745del (p.Cys582fs)
|
rs869025420
|
|
|
NM_000138.5(FBN1):c.1753G>A (p.Gly585Arg)
|
rs1085307528
|
|
|
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu)
|
rs1060501041
|
|
|
NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly)
|
rs1555399968
|
|
|
NM_000138.5(FBN1):c.176G>A (p.Cys59Tyr)
|
rs1555405673
|
|
|
NM_000138.5(FBN1):c.176G>T (p.Cys59Phe)
|
rs1555405673
|
|
|
NM_000138.5(FBN1):c.1775G>A (p.Gly592Asp)
|
rs1555399959
|
|
|
NM_000138.5(FBN1):c.1793G>A (p.Cys598Tyr)
|
rs1555399955
|
|
|
NM_000138.5(FBN1):c.1807C>T (p.Gln603Ter)
|
rs886038963
|
|
|
NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter)
|
rs794728176
|
|
|
NM_000138.5(FBN1):c.1823del (p.Gly608fs)
|
rs1555399949
|
|
|
NM_000138.5(FBN1):c.1831T>C (p.Cys611Arg)
|
rs1555399944
|
|
|
NM_000138.5(FBN1):c.1836_1837+2delinsGGG
|
rs2043731288
|
|
|
NM_000138.5(FBN1):c.1837+1G>T
|
rs397515762
|
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
|
NM_000138.5(FBN1):c.1837+5G>C
|
|
|
|
NM_000138.5(FBN1):c.1838-1G>A
|
rs1555399840
|
|
|
NM_000138.5(FBN1):c.1843_1845del (p.Asn615del)
|
rs1555399837
|
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
|
NM_000138.5(FBN1):c.1846G>C (p.Glu616Gln)
|
|
|
|
NM_000138.5(FBN1):c.1849T>C (p.Cys617Arg)
|
rs1060501017
|
|
|
NM_000138.5(FBN1):c.1849T>G (p.Cys617Gly)
|
rs1060501017
|
|
|
NM_000138.5(FBN1):c.1849_1851del (p.Cys617del)
|
rs2141317465
|
|
|
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)
|
rs25403
|
|
|
NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr)
|
rs1555399836
|
|
|
NM_000138.5(FBN1):c.1850_1851delinsTG (p.Cys617Leu)
|
|
|
|
NM_000138.5(FBN1):c.1881_1883inv (p.Cys628Asn)
|
|
|
|
NM_000138.5(FBN1):c.1888A>C (p.Asn630His)
|
rs1555399821
|
|
|
NM_000138.5(FBN1):c.1888A>T (p.Asn630Tyr)
|
rs1555399821
|
|
|
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys)
|
rs1303389437
|
|
|
NM_000138.5(FBN1):c.1891A>C (p.Thr631Pro)
|
rs2043697314
|
|
|
NM_000138.5(FBN1):c.1891A>G (p.Thr631Ala)
|
|
|
|
NM_000138.5(FBN1):c.1900T>C (p.Ser634Pro)
|
rs1566914005
|
|
|
NM_000138.5(FBN1):c.1901C>T (p.Ser634Phe)
|
|
|
|
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)
|
rs1555399816
|
|
|
NM_000138.5(FBN1):c.1909T>C (p.Cys637Arg)
|
rs869025404
|
|
|
NM_000138.5(FBN1):c.1916G>A (p.Cys639Tyr)
|
rs878853676
|
|
|
NM_000138.5(FBN1):c.1916_1917delinsTG (p.Cys639Leu)
|
rs2043696899
|
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
|
NM_000138.5(FBN1):c.1948dup (p.Arg650fs)
|
rs1566913982
|
|
|
NM_000138.5(FBN1):c.1960+2T>C
|
rs1555399802
|
|
|
NM_000138.5(FBN1):c.1960G>A (p.Asp654Asn)
|
|
|
|
NM_000138.5(FBN1):c.1961-1G>A
|
rs2043686634
|
|
|
NM_000138.5(FBN1):c.1962_1981delinsAG (p.Asp654_Cys661delinsGluGly)
|
rs1597574308
|
|
|
NM_000138.5(FBN1):c.1968_1969del (p.Met657fs)
|
rs1555399775
|
|
|
NM_000138.5(FBN1):c.197A>G (p.Tyr66Cys)
|
rs774371494
|
|
|
NM_000138.5(FBN1):c.1982G>A (p.Cys661Tyr)
|
rs1060501086
|
|
|
NM_000138.5(FBN1):c.199T>C (p.Cys67Arg)
|
rs2140737496
|
|
|
NM_000138.5(FBN1):c.1A>C (p.Met1Leu)
|
rs730880097
|
|
|
NM_000138.5(FBN1):c.1A>G (p.Met1Val)
|
rs730880097
|
|
|
NM_000138.5(FBN1):c.201_203dup (p.Cys68dup)
|
rs1555405664
|
|
|
NM_000138.5(FBN1):c.2026G>T (p.Gly676Cys)
|
rs2141315849
|
|
|
NM_000138.5(FBN1):c.202T>C (p.Cys68Arg)
|
rs113604459
|
|
|
NM_000138.5(FBN1):c.2034_2052del (p.Thr679fs)
|
|
|
|
NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr)
|
rs1597633163
|
|
|
NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg)
|
rs1555399764
|
|
|
NM_000138.5(FBN1):c.2051G>A (p.Cys684Tyr)
|
rs1555399763
|
|
|
NM_000138.5(FBN1):c.2051G>C (p.Cys684Ser)
|
rs1555399763
|
|
|
NM_000138.5(FBN1):c.2051G>T (p.Cys684Phe)
|
rs1555399763
|
|
|
NM_000138.5(FBN1):c.2053T>C (p.Cys685Arg)
|
rs1597574236
|
|
|
NM_000138.5(FBN1):c.2054G>A (p.Cys685Tyr)
|
rs1555399761
|
|
|
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)
|
rs140603
|
|
|
NM_000138.5(FBN1):c.2080G>T (p.Glu694Ter)
|
rs1060501024
|
|
|
NM_000138.5(FBN1):c.2086T>G (p.Cys696Gly)
|
rs2141315718
|
|
|
NM_000138.5(FBN1):c.2087G>T (p.Cys696Phe)
|
rs1566913685
|
|
|
NM_000138.5(FBN1):c.2096G>C (p.Cys699Ser)
|
rs2043684108
|
|
|
NM_000138.5(FBN1):c.2113+1G>T
|
rs1566913670
|
|
|
NM_000138.5(FBN1):c.2113+2T>C
|
rs730880105
|
|
|
NM_000138.5(FBN1):c.2114-3C>A
|
|
|
|
NM_000138.5(FBN1):c.2118_2127del (p.Glu706fs)
|
rs1555399482
|
|
|
NM_000138.5(FBN1):c.211T>A (p.Trp71Arg)
|
rs1555405658
|
|
|
NM_000138.5(FBN1):c.211T>C (p.Trp71Arg)
|
rs1555405658
|
|
|
NM_000138.5(FBN1):c.211T>G (p.Trp71Gly)
|
rs1555405658
|
|
|
NM_000138.5(FBN1):c.2146G>C (p.Gly716Arg)
|
|
|
|
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu)
|
rs794728185
|
|
|
NM_000138.5(FBN1):c.2167G>T (p.Asp723Tyr)
|
rs1555399477
|
|
|
NM_000138.5(FBN1):c.2168-1del
|
|
|
|
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala)
|
rs137854463
|
|
|
NM_000138.5(FBN1):c.2176del (p.Glu726fs)
|
rs1555399385
|
|
|
NM_000138.5(FBN1):c.2186del (p.Leu729fs)
|
rs193922187
|
|
|
NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg)
|
rs2141306513
|
|
|
NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr)
|
rs794728187
|
|
|
NM_000138.5(FBN1):c.2216G>A (p.Cys739Tyr)
|
rs1555399378
|
|
|
NM_000138.5(FBN1):c.2222A>G (p.Asn741Ser)
|
|
|
|
NM_000138.5(FBN1):c.2223C>A (p.Asn741Lys)
|
|
|
|
NM_000138.5(FBN1):c.2223C>G (p.Asn741Lys)
|
|
|
|
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys)
|
rs1555399372
|
|
|
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg)
|
rs397515765
|
|
|
NM_000138.5(FBN1):c.2248T>C (p.Cys750Arg)
|
rs1555399368
|
|
|
NM_000138.5(FBN1):c.2258G>A (p.Gly753Glu)
|
rs1555399365
|
|
|
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys)
|
rs137854479
|
|
|
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg)
|
rs1555399361
|
|
|
NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly)
|
rs1555399361
|
|
|
NM_000138.5(FBN1):c.2289C>G (p.Cys763Trp)
|
rs181311020
|
|
|
NM_000138.5(FBN1):c.2294-1G>C
|
|
|
|
NM_000138.5(FBN1):c.2294-2A>G
|
|
|
|
NM_000138.5(FBN1):c.2298_2301del (p.Ile766fs)
|
rs1555399281
|
|
|
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)
|
rs794728290
|
|
|
NM_000138.5(FBN1):c.2305T>C (p.Cys769Arg)
|
rs1060501022
|
|
|
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr)
|
rs794728190
|
|
|
NM_000138.5(FBN1):c.2306G>T (p.Cys769Phe)
|
rs794728190
|
|
|
NM_000138.5(FBN1):c.2341T>G (p.Cys781Gly)
|
|
|
|
NM_000138.5(FBN1):c.2342del (p.Cys781fs)
|
|
|
|
NM_000138.5(FBN1):c.2354C>A (p.Pro785His)
|
rs956678986
|
|
|
NM_000138.5(FBN1):c.2364dup (p.Val789fs)
|
|
|
|
NM_000138.5(FBN1):c.2368T>A (p.Cys790Ser)
|
rs1555399270
|
|
|
NM_000138.5(FBN1):c.2369G>C (p.Cys790Ser)
|
rs193922188
|
|
|
NM_000138.5(FBN1):c.2374T>C (p.Cys792Arg)
|
rs2141305039
|
|
|
NM_000138.5(FBN1):c.238T>G (p.Cys80Gly)
|
rs111764111
|
|
|
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr)
|
rs397515767
|
|
|
NM_000138.5(FBN1):c.23_34del (p.Glu8_Leu11del)
|
|
|
|
NM_000138.5(FBN1):c.2419+1G>A
|
rs1555399257
|
|
|
NM_000138.5(FBN1):c.2420-1G>T
|
rs1555399214
|
|
|
NM_000138.5(FBN1):c.2420-2A>G
|
rs1060501052
|
|
|
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr)
|
rs1555399210
|
|
|
NM_000138.5(FBN1):c.2447G>C (p.Cys816Ser)
|
rs397515770
|
|
|
NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp)
|
rs397515771
|
|
|
NM_000138.5(FBN1):c.2467_2468insG (p.Asn823fs)
|
rs1555399204
|
|
|
NM_000138.5(FBN1):c.247+2dup
|
rs397515772
|
|
|
NM_000138.5(FBN1):c.247+3A>C
|
rs201854371
|
|
|
NM_000138.5(FBN1):c.2474del (p.Pro825fs)
|
rs1555399202
|
|
|
NM_000138.5(FBN1):c.248-3C>G
|
rs1555405537
|
|
|
NM_000138.5(FBN1):c.2488T>G (p.Cys830Gly)
|
rs397515773
|
|
|
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser)
|
rs397515774
|
|
|
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr)
|
rs397515775
|
|
|
NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp)
|
rs397515776
|
|
|
NM_000138.5(FBN1):c.2502_2513del (p.Glu835_Leu838del)
|
rs1555399195
|
|
|
NM_000138.5(FBN1):c.2504A>T (p.Glu835Val)
|
|
|
|
NM_000138.5(FBN1):c.2529del (p.Ile844fs)
|
rs1555399193
|
|
|
NM_000138.5(FBN1):c.253T>A (p.Cys85Ser)
|
|
|
|
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro)
|
rs193922191
|
|
|
NM_000138.5(FBN1):c.2557T>A (p.Cys853Ser)
|
rs1555399165
|
|
|
NM_000138.5(FBN1):c.2558G>A (p.Cys853Tyr)
|
|
|
|
NM_000138.5(FBN1):c.2560T>C (p.Trp854Arg)
|
rs2043596204
|
|
|
NM_000138.5(FBN1):c.2561G>C (p.Trp854Ser)
|
rs1597568968
|
|
|
NM_000138.5(FBN1):c.2563C>T (p.Gln855Ter)
|
rs1057519502
|
|
|
NM_000138.5(FBN1):c.2584T>C (p.Cys862Arg)
|
rs2043595650
|
|
|
NM_000138.5(FBN1):c.2585G>A (p.Cys862Tyr)
|
rs1555399162
|
|
|
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr)
|
rs886039038
|
|
|
NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr)
|
rs794728193
|
|
|
NM_000138.5(FBN1):c.2627G>C (p.Cys876Ser)
|
|
|
|
NM_000138.5(FBN1):c.2627G>T (p.Cys876Phe)
|
rs794728193
|
|
|
NM_000138.5(FBN1):c.2631del (p.Ser878fs)
|
rs2141303607
|
|
|
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser)
|
rs794728194
|
|
|
NM_000138.5(FBN1):c.2638G>T (p.Gly880Cys)
|
rs794728194
|
|
|
NM_000138.5(FBN1):c.2639G>C (p.Gly880Ala)
|
|
|
|
NM_000138.5(FBN1):c.2639G>T (p.Gly880Val)
|
rs886038953
|
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
|
NM_000138.5(FBN1):c.2651G>A (p.Gly884Glu)
|
rs1555399149
|
|
|
NM_000138.5(FBN1):c.2657_2671del (p.Pro886_Cys890del)
|
rs2141303486
|
|
|
NM_000138.5(FBN1):c.2659T>C (p.Cys887Arg)
|
rs2141303537
|
|
|
NM_000138.5(FBN1):c.265T>C (p.Cys89Arg)
|
rs1555405533
|
|
|
NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr)
|
rs2043594601
|
|
|
NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr)
|
rs1555399144
|
|
|
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr)
|
rs112660651
|
|
|
NM_000138.5(FBN1):c.266G>C (p.Cys89Ser)
|
rs112660651
|
|
|
NM_000138.5(FBN1):c.2673A>G (p.Gln891=)
|
rs1555399143
|
|
|
NM_000138.5(FBN1):c.2677+1G>A
|
|
|
|
NM_000138.5(FBN1):c.2677G>C (p.Asp893His)
|
rs193922193
|
|
|
NM_000138.5(FBN1):c.2678-2A>G
|
rs1555399101
|
|
|
NM_000138.5(FBN1):c.2682del (p.Ile895fs)
|
rs193922194
|
|
|
NM_000138.5(FBN1):c.2687G>C (p.Cys896Ser)
|
|
|
|
NM_000138.5(FBN1):c.2687G>T (p.Cys896Phe)
|
|
|
|
NM_000138.5(FBN1):c.2691dup (p.Lys898Ter)
|
rs397515779
|
|
|
NM_000138.5(FBN1):c.2695G>A (p.Gly899Arg)
|
rs869025405
|
|
|
NM_000138.5(FBN1):c.2695G>C (p.Gly899Arg)
|
rs869025405
|
|
|
NM_000138.5(FBN1):c.2696G>A (p.Gly899Glu)
|
rs1555399094
|
|
|
NM_000138.5(FBN1):c.2698_2699insGG (p.Tyr900fs)
|
rs1555399093
|
|
|
NM_000138.5(FBN1):c.2714del (p.Gly905fs)
|
rs1555399089
|
|
|
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg)
|
rs1060501021
|
|
|
NM_000138.5(FBN1):c.2723G>C (p.Cys908Ser)
|
rs1057523406
|
|
|
NM_000138.5(FBN1):c.2728_2728+1delinsAA
|
rs1566911331
|
|
|
NM_000138.5(FBN1):c.2729A>T (p.Asp910Val)
|
rs1284769637
|
|
|
NM_000138.5(FBN1):c.2737G>A (p.Glu913Lys)
|
rs1555398996
|
|
|
NM_000138.5(FBN1):c.2738A>C (p.Glu913Ala)
|
rs1555398995
|
|
|
NM_000138.5(FBN1):c.2738A>G (p.Glu913Gly)
|
rs1555398995
|
|
|
NM_000138.5(FBN1):c.2740T>A (p.Cys914Ser)
|
rs1555398994
|
|
|
NM_000138.5(FBN1):c.2741G>A (p.Cys914Tyr)
|
rs2141300503
|
|
|
NM_000138.5(FBN1):c.274G>A (p.Gly92Arg)
|
rs2140734026
|
|
|
NM_000138.5(FBN1):c.2764_2780del (p.Cys921_Lys922insTer)
|
rs1555398988
|
|
|
NM_000138.5(FBN1):c.2803T>G (p.Cys935Gly)
|
|
|
|
NM_000138.5(FBN1):c.2808_2810del (p.Gln936_Cys937delinsHis)
|
rs1555398981
|
|
|
NM_000138.5(FBN1):c.2810G>T (p.Cys937Phe)
|
|
|
|
NM_000138.5(FBN1):c.281G>T (p.Cys94Phe)
|
rs730880098
|
|
|
NM_000138.5(FBN1):c.2830del (p.Asp944fs)
|
|
|
|
NM_000138.5(FBN1):c.2833del (p.Ala945fs)
|
rs397515781
|
|
|
NM_000138.5(FBN1):c.2849G>A (p.Cys950Tyr)
|
rs1555398974
|
|
|
NM_000138.5(FBN1):c.2854G>C (p.Asp952His)
|
rs2141300251
|
|
|
NM_000138.5(FBN1):c.2855-2A>G
|
rs2141297577
|
|
|
NM_000138.5(FBN1):c.2858del (p.Ile953fs)
|
rs1555398836
|
|
|
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)
|
rs1555398835
|
|
|
NM_000138.5(FBN1):c.2861G>A (p.Arg954His)
|
rs112911555
|
|
|
NM_000138.5(FBN1):c.2861G>T (p.Arg954Leu)
|
rs112911555
|
|
|
NM_000138.5(FBN1):c.2873G>C (p.Cys958Ser)
|
rs1555398834
|
|
|
NM_000138.5(FBN1):c.2884_2890del (p.Tyr962fs)
|
rs1555398833
|
|
|
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys)
|
rs748905831
|
|
|
NM_000138.5(FBN1):c.2913del (p.Ile971fs)
|
rs1555398826
|
|
|
NM_000138.5(FBN1):c.2942G>A (p.Cys981Tyr)
|
rs727505110
|
|
|
NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser)
|
rs727505110
|
|
|
NM_000138.5(FBN1):c.2943C>G (p.Cys981Trp)
|
|
|
|
NM_000138.5(FBN1):c.2948_2970del (p.Cys982_Ser983insTer)
|
rs1555398811
|
|
|
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)
|
rs794728199
|
|
|
NM_000138.5(FBN1):c.2953G>T (p.Gly985Trp)
|
rs794728199
|
|
|
NM_000138.5(FBN1):c.2988T>A (p.Cys996Ter)
|
rs1555398803
|
|
|
NM_000138.5(FBN1):c.298T>C (p.Cys100Arg)
|
rs1597631662
|
|
|
NM_000138.5(FBN1):c.299G>A (p.Cys100Tyr)
|
rs397515782
|
|
|
NM_000138.5(FBN1):c.299G>T (p.Cys100Phe)
|
rs397515782
|
|
|
NM_000138.5(FBN1):c.2T>C (p.Met1Thr)
|
rs886041536
|
|
|
NM_000138.5(FBN1):c.3007G>T (p.Glu1003Ter)
|
|
|
|
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter)
|
rs397515784
|
|
|
NM_000138.5(FBN1):c.3022T>C (p.Cys1008Arg)
|
rs1555398793
|
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
|
NM_000138.5(FBN1):c.304T>C (p.Cys102Arg)
|
rs1566937712
|
|
|
NM_000138.5(FBN1):c.305G>A (p.Cys102Tyr)
|
rs794728292
|
|
|
NM_000138.5(FBN1):c.305G>C (p.Cys102Ser)
|
rs794728292
|
|
|
NM_000138.5(FBN1):c.3064G>T (p.Gly1022Ter)
|
|
|
|
NM_000138.5(FBN1):c.3083-1G>C
|
rs2141295345
|
|
|
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly)
|
rs1131691317
|
|
|
NM_000138.5(FBN1):c.3115T>C (p.Cys1039Arg)
|
|
|
|
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser)
|
rs1555398681
|
|
|
NM_000138.5(FBN1):c.3124G>C (p.Gly1042Arg)
|
|
|
|
NM_000138.5(FBN1):c.3126del (p.Lys1043fs)
|
|
|
|
NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr)
|
rs730880100
|
|
|
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser)
|
rs2141295239
|
|
|
NM_000138.5(FBN1):c.3140_3141del (p.Thr1047fs)
|
rs193922197
|
|
|
NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr)
|
rs1555398673
|
|
|
NM_000138.5(FBN1):c.3144del (p.Ile1048fs)
|
rs1555398672
|
|
|
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp)
|
rs1555398670
|
|
|
NM_000138.5(FBN1):c.3146G>C (p.Gly1049Ala)
|
|
|
|
NM_000138.5(FBN1):c.3149G>T (p.Ser1050Ile)
|
rs987202268
|
|
|
NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser)
|
rs1555398668
|
|
|
NM_000138.5(FBN1):c.3157T>A (p.Cys1053Ser)
|
rs1555398667
|
|
|
NM_000138.5(FBN1):c.3157T>G (p.Cys1053Gly)
|
rs1555398667
|
|
|
NM_000138.5(FBN1):c.3165T>G (p.Cys1055Trp)
|
rs1060501040
|
|
|
NM_000138.5(FBN1):c.3172G>A (p.Gly1058Ser)
|
rs886039208
|
|
|
NM_000138.5(FBN1):c.3193del (p.Glu1065fs)
|
rs193922198
|
|
|
NM_000138.5(FBN1):c.3203G>A (p.Cys1068Tyr)
|
rs1555398659
|
|
|
NM_000138.5(FBN1):c.3203G>C (p.Cys1068Ser)
|
rs1555398659
|
|
|
NM_000138.5(FBN1):c.3209-1G>C
|
rs886038956
|
|
|
NM_000138.5(FBN1):c.3209-2A>C
|
rs2043526284
|
|
|
NM_000138.5(FBN1):c.3209A>G (p.Asp1070Gly)
|
rs1555398648
|
|
|
NM_000138.5(FBN1):c.320_321del (p.Ile107fs)
|
rs730880108
|
|
|
NM_000138.5(FBN1):c.3214G>C (p.Asp1072His)
|
rs778867355
|
|
|
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys)
|
rs137854478
|
|
|
NM_000138.5(FBN1):c.3229del (p.Ser1077fs)
|
|
|
|
NM_000138.5(FBN1):c.3250G>C (p.Gly1084Arg)
|
rs112553035
|
|
|
NM_000138.5(FBN1):c.3268C>T (p.Pro1090Ser)
|
rs1555398633
|
|
|
NM_000138.5(FBN1):c.3271G>T (p.Gly1091Trp)
|
rs2141294717
|
|
|
NM_000138.5(FBN1):c.3272G>A (p.Gly1091Glu)
|
rs1566909798
|
|
|
NM_000138.5(FBN1):c.3284G>A (p.Cys1095Tyr)
|
rs1597563934
|
|
|
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr)
|
rs1555398627
|
|
|
NM_000138.5(FBN1):c.3299G>C (p.Gly1100Ala)
|
rs112547596
|
|
|
NM_000138.5(FBN1):c.3299G>T (p.Gly1100Val)
|
rs112547596
|
|
|
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg)
|
rs1555407429
|
|
|
NM_000138.5(FBN1):c.32_42del (p.Leu11fs)
|
rs397515785
|
|
|
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)
|
rs1555398625
|
|
|
NM_000138.5(FBN1):c.3320_3323dup (p.Met1108fs)
|
rs1555398622
|
|
|
NM_000138.5(FBN1):c.3331T>G (p.Cys1111Gly)
|
rs2141294587
|
|
|
NM_000138.5(FBN1):c.3332G>C (p.Cys1111Ser)
|
|
|
|
NM_000138.5(FBN1):c.3337+1G>A
|
rs397515789
|
|
|
NM_000138.5(FBN1):c.3337+1dup
|
rs1566909762
|
|
|
NM_000138.5(FBN1):c.3338-2A>G
|
rs2141293812
|
|
|
NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly)
|
rs140597
|
|
|
NM_000138.5(FBN1):c.3343G>T (p.Asp1115Tyr)
|
|
|
|
NM_000138.5(FBN1):c.3346G>A (p.Glu1116Lys)
|
rs1555398582
|
|
|
NM_000138.5(FBN1):c.3347A>G (p.Glu1116Gly)
|
rs1566909547
|
|
|
NM_000138.5(FBN1):c.3371G>C (p.Cys1124Ser)
|
rs2141293726
|
|
|
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser)
|
rs137854468
|
|
|
NM_000138.5(FBN1):c.3380G>A (p.Gly1127Asp)
|
rs1064794882
|
|
|
NM_000138.5(FBN1):c.338C>G (p.Ser113Cys)
|
rs869025403
|
|
|
NM_000138.5(FBN1):c.3392A>G (p.Asn1131Ser)
|
rs397515790
|
|
|
NM_000138.5(FBN1):c.3393C>A (p.Asn1131Lys)
|
rs775565475
|
|
|
NM_000138.5(FBN1):c.3398_3408del (p.Glu1133fs)
|
rs1555398566
|
|
|
NM_000138.5(FBN1):c.3412T>C (p.Cys1138Arg)
|
rs1131691806
|
|
|
NM_000138.5(FBN1):c.3413G>A (p.Cys1138Tyr)
|
rs397515791
|
|
|
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser)
|
rs397515791
|
|
|
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe)
|
rs397515791
|
|
|
NM_000138.5(FBN1):c.3419G>A (p.Cys1140Tyr)
|
rs1060501075
|
|
|
NM_000138.5(FBN1):c.3419G>T (p.Cys1140Phe)
|
rs1060501075
|
|
|
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)
|
rs1163486953
|
|
|
NM_000138.5(FBN1):c.3444del (p.Asn1149fs)
|
rs1555398551
|
|
|
NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg)
|
rs886038877
|
|
|
NM_000138.5(FBN1):c.346+1G>A
|
|
|
|
NM_000138.5(FBN1):c.3464A>G (p.Asp1155Gly)
|
rs2141293332
|
|
|
NM_000138.5(FBN1):c.3464A>T (p.Asp1155Val)
|
|
|
|
NM_000138.5(FBN1):c.347-1G>C
|
|
|
|
NM_000138.5(FBN1):c.347-2A>C
|
|
|
|
NM_000138.5(FBN1):c.3475T>C (p.Cys1159Arg)
|
rs794728205
|
|
|
NM_000138.5(FBN1):c.3478G>T (p.Glu1160Ter)
|
rs193922199
|
|
|
NM_000138.5(FBN1):c.3497G>A (p.Cys1166Tyr)
|
rs2043515038
|
|
|
NM_000138.5(FBN1):c.3505G>C (p.Gly1169Arg)
|
|
|
|
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)
|
rs1366894709
|
|
|
NM_000138.5(FBN1):c.3512G>A (p.Cys1171Tyr)
|
rs1555398521
|
|
|
NM_000138.5(FBN1):c.3518A>C (p.Asn1173Thr)
|
rs1555398520
|
|
|
NM_000138.5(FBN1):c.3533A>G (p.Tyr1178Cys)
|
rs1555398515
|
|
|
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)
|
rs1555398512
|
|
|
NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys)
|
rs1555398511
|
|
|
NM_000138.5(FBN1):c.3558C>G (p.Tyr1186Ter)
|
rs1555398510
|
|
|
NM_000138.5(FBN1):c.355T>C (p.Cys119Arg)
|
rs2044551443
|
|
|
NM_000138.5(FBN1):c.356G>A (p.Cys119Tyr)
|
|
|
|
NM_000138.5(FBN1):c.3583T>G (p.Cys1195Gly)
|
rs2141293091
|
|
|
NM_000138.5(FBN1):c.3589+1del
|
|
|
|
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn)
|
rs397515793
|
|
|
NM_000138.5(FBN1):c.3589G>C (p.Asp1197His)
|
rs397515793
|
|
|
NM_000138.5(FBN1):c.3590-2A>G
|
rs2043498977
|
|
|
NM_000138.5(FBN1):c.3590A>G (p.Asp1197Gly)
|
rs112025387
|
|
|
NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly)
|
rs794728206
|
|
|
NM_000138.5(FBN1):c.3598G>A (p.Glu1200Lys)
|
|
|
|
NM_000138.5(FBN1):c.3599A>T (p.Glu1200Val)
|
rs1566908956
|
|
|
NM_000138.5(FBN1):c.3602G>A (p.Cys1201Tyr)
|
rs1555398413
|
|
|
NM_000138.5(FBN1):c.3616G>A (p.Gly1206Ser)
|
|
|
|
NM_000138.5(FBN1):c.3617G>A (p.Gly1206Asp)
|
rs1555398409
|
|
|
NM_000138.5(FBN1):c.3617G>T (p.Gly1206Val)
|
|
|
|
NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe)
|
rs1555398406
|
|
|
NM_000138.5(FBN1):c.3624T>G (p.Cys1208Trp)
|
|
|
|
NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del)
|
rs1555398404
|
|
|
NM_000138.5(FBN1):c.3634T>C (p.Cys1212Arg)
|
rs2043497933
|
|
|
NM_000138.5(FBN1):c.3635G>A (p.Cys1212Tyr)
|
rs1057522908
|
|
|
NM_000138.5(FBN1):c.3640_3641del (p.Asn1214fs)
|
rs2141291345
|
|
|
NM_000138.5(FBN1):c.3641A>G (p.Asn1214Ser)
|
rs1555398401
|
|
|
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
|
rs137854467
|
|
|
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp)
|
rs1555398397
|
|
|
NM_000138.5(FBN1):c.3650G>T (p.Gly1217Val)
|
|
|
|
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys)
|
rs1555398394
|
|
|
NM_000138.5(FBN1):c.3677G>T (p.Gly1226Val)
|
rs1555398387
|
|
|
NM_000138.5(FBN1):c.3706T>C (p.Cys1236Arg)
|
rs1555398380
|
|
|
NM_000138.5(FBN1):c.3706T>G (p.Cys1236Gly)
|
rs1555398380
|
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
|
NM_000138.5(FBN1):c.3713-2A>G
|
|
|
|
NM_000138.5(FBN1):c.3721G>A (p.Glu1241Lys)
|
|
|
|
NM_000138.5(FBN1):c.3722A>G (p.Glu1241Gly)
|
rs2043485666
|
|
|
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr)
|
rs137854471
|
|
|
NM_000138.5(FBN1):c.3726T>G (p.Cys1242Trp)
|
|
|
|
NM_000138.5(FBN1):c.3759del (p.Gln1253fs)
|
rs1555398287
|
|
|
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp)
|
rs772890884
|
|
|
NM_000138.5(FBN1):c.3783del (p.Glu1260_Tyr1261insTer)
|
rs1555398282
|
|
|
NM_000138.5(FBN1):c.3794G>C (p.Cys1265Ser)
|
rs1555398279
|
|
|
NM_000138.5(FBN1):c.3833G>C (p.Cys1278Ser)
|
|
|
|
NM_000138.5(FBN1):c.3838+2T>C
|
|
|
|
NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn)
|
rs794728210
|
|
|
NM_000138.5(FBN1):c.3839A>T (p.Asp1280Val)
|
rs1555398179
|
|
|
NM_000138.5(FBN1):c.3847G>A (p.Glu1283Lys)
|
rs1555398176
|
|
|
NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala)
|
rs397515796
|
|
|
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg)
|
rs397515797
|
|
|
NM_000138.5(FBN1):c.3887G>A (p.Cys1296Tyr)
|
|
|
|
NM_000138.5(FBN1):c.3893A>C (p.Asn1298Thr)
|
|
|
|
NM_000138.5(FBN1):c.3893dup (p.Asn1298fs)
|
rs869025425
|
|
|
NM_000138.5(FBN1):c.3902G>C (p.Gly1301Ala)
|
rs1566908083
|
|
|
NM_000138.5(FBN1):c.3904_3915del (p.Ser1302_Cys1305del)
|
|
|
|
NM_000138.5(FBN1):c.390del (p.Ser130fs)
|
rs1555405045
|
|
|
NM_000138.5(FBN1):c.3915C>A (p.Cys1305Ter)
|
rs1555398152
|
|
|
NM_000138.5(FBN1):c.3921T>G (p.Cys1307Trp)
|
rs2043466446
|
|
|
NM_000138.5(FBN1):c.3928G>C (p.Gly1310Arg)
|
|
|
|
NM_000138.5(FBN1):c.3928G>T (p.Gly1310Cys)
|
rs2043466325
|
|
|
NM_000138.5(FBN1):c.3929G>A (p.Gly1310Asp)
|
|
|
|
NM_000138.5(FBN1):c.3932A>G (p.Tyr1311Cys)
|
rs1555398148
|
|
|
NM_000138.5(FBN1):c.3945del (p.Gly1316fs)
|
rs1555398144
|
|
|
NM_000138.5(FBN1):c.3947_3948delinsT (p.Gly1316fs)
|
rs1555398139
|
|
|
NM_000138.5(FBN1):c.3959G>C (p.Cys1320Ser)
|
rs113393517
|
|
|
NM_000138.5(FBN1):c.3959G>T (p.Cys1320Phe)
|
rs113393517
|
|
|
NM_000138.5(FBN1):c.3963A>G (p.Thr1321=)
|
rs140648
|
|
|
NM_000138.5(FBN1):c.3964G>A (p.Asp1322Asn)
|
|
|
|
NM_000138.5(FBN1):c.3965-1081A>G
|
|
|
|
NM_000138.5(FBN1):c.3965A>G (p.Asp1322Gly)
|
rs1555397744
|
|
|
NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala)
|
rs794728331
|
|
|
NM_000138.5(FBN1):c.3975A>C (p.Glu1325Asp)
|
rs1555397741
|
|
|
NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr)
|
rs1555397738
|
|
|
NM_000138.5(FBN1):c.3978T>G (p.Cys1326Trp)
|
|
|
|
NM_000138.5(FBN1):c.3993del (p.His1331fs)
|
rs1555397736
|
|
|
NM_000138.5(FBN1):c.3997T>G (p.Cys1333Gly)
|
|
|
|
NM_000138.5(FBN1):c.4007_4010del (p.His1336fs)
|
|
|
|
NM_000138.5(FBN1):c.400T>C (p.Cys134Arg)
|
rs1555405044
|
|
|
NM_000138.5(FBN1):c.4016G>A (p.Cys1339Tyr)
|
rs397515798
|
|
|
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser)
|
rs397515798
|
|
|
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr)
|
rs1555405043
|
|
|
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser)
|
rs140638
|
|
|
NM_000138.5(FBN1):c.4032_4033del (p.Ser1345fs)
|
rs1555397723
|
|
|
NM_000138.5(FBN1):c.4048T>A (p.Cys1350Ser)
|
rs397515799
|
|
|
NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg)
|
rs397515799
|
|
|
NM_000138.5(FBN1):c.4048T>G (p.Cys1350Gly)
|
rs397515799
|
|
|
NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe)
|
rs1555397718
|
|
|
NM_000138.5(FBN1):c.4056del (p.Trp1354fs)
|
rs1555397713
|
|
|
NM_000138.5(FBN1):c.4057G>T (p.Gly1353Trp)
|
rs187177496
|
|
|
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter)
|
rs1060501039
|
|
|
NM_000138.5(FBN1):c.406T>A (p.Cys136Ser)
|
rs1555405041
|
|
|
NM_000138.5(FBN1):c.406T>C (p.Cys136Arg)
|
rs1555405041
|
|
|
NM_000138.5(FBN1):c.406T>G (p.Cys136Gly)
|
rs1555405041
|
|
|
NM_000138.5(FBN1):c.407G>A (p.Cys136Tyr)
|
|
|
|
NM_000138.5(FBN1):c.407G>T (p.Cys136Phe)
|
|
|
|
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg)
|
rs1566906506
|
|
|
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr)
|
rs1555397704
|
|
|
NM_000138.5(FBN1):c.4085C>G (p.Thr1362Ser)
|
|
|
|
NM_000138.5(FBN1):c.4087+5G>A
|
rs1555397692
|
|
|
NM_000138.5(FBN1):c.4087G>T (p.Asp1363Tyr)
|
|
|
|
NM_000138.5(FBN1):c.4088-2A>G
|
|
|
|
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)
|
rs763449629
|
|
|
NM_000138.5(FBN1):c.4096G>C (p.Glu1366Gln)
|
rs763449629
|
|
|
NM_000138.5(FBN1):c.4099T>A (p.Cys1367Ser)
|
rs1555397670
|
|
|
NM_000138.5(FBN1):c.4151T>C (p.Met1384Thr)
|
rs1555397658
|
|
|
NM_000138.5(FBN1):c.4160A>G (p.Tyr1387Cys)
|
rs397515801
|
|
|
NM_000138.5(FBN1):c.4165T>G (p.Cys1389Gly)
|
rs193922203
|
|
|
NM_000138.5(FBN1):c.4192G>A (p.Asp1398Asn)
|
rs1597553721
|
|
|
NM_000138.5(FBN1):c.4196_4197insA (p.Phe1400fs)
|
|
|
|
NM_000138.5(FBN1):c.4197del (p.Phe1400fs)
|
rs869025421
|
|
|
NM_000138.5(FBN1):c.4210+1G>A
|
rs730880106
|
|
|
NM_000138.5(FBN1):c.4210G>A (p.Asp1404Asn)
|
rs794728220
|
|
|
NM_000138.5(FBN1):c.4211-2A>G
|
|
|
|
NM_000138.5(FBN1):c.4211A>G (p.Asp1404Gly)
|
|
|
|
NM_000138.5(FBN1):c.4217A>G (p.Asp1406Gly)
|
rs2043386794
|
|
|
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg)
|
rs397515802
|
|
|
NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg)
|
rs1555397557
|
|
|
NM_000138.5(FBN1):c.4244G>A (p.Cys1415Tyr)
|
rs1555397556
|
|
|
NM_000138.5(FBN1):c.4251_4259del (p.Gly1418_Cys1420del)
|
rs397515803
|
|
|
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr)
|
rs397515804
|
|
|
NM_000138.5(FBN1):c.4280A>G (p.Tyr1427Cys)
|
rs1555397548
|
|
|
NM_000138.5(FBN1):c.4287_4288del (p.Cys1429_Glu1430delinsTer)
|
rs1555397542
|
|
|
NM_000138.5(FBN1):c.4291T>C (p.Cys1431Arg)
|
|
|
|
NM_000138.5(FBN1):c.4292G>A (p.Cys1431Tyr)
|
rs1555397540
|
|
|
NM_000138.5(FBN1):c.4293C>G (p.Cys1431Trp)
|
rs112375043
|
|
|
NM_000138.5(FBN1):c.4301_4302insAG (p.Phe1435fs)
|
rs1555397536
|
|
|
NM_000138.5(FBN1):c.4301del (p.Gly1434fs)
|
rs1555397537
|
|
|
NM_000138.5(FBN1):c.4331G>A (p.Cys1444Tyr)
|
rs886038940
|
|
|
NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn)
|
rs794728221
|
|
|
NM_000138.5(FBN1):c.4337-1G>A
|
rs1555397424
|
|
|
NM_000138.5(FBN1):c.4337-1G>T
|
rs1555397424
|
|
|
NM_000138.5(FBN1):c.4337-2A>G
|
rs794728216
|
|
|
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly)
|
rs397515806
|
|
|
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val)
|
rs397515806
|
|
|
NM_000138.5(FBN1):c.433T>C (p.Cys145Arg)
|
rs1555405031
|
|
|
NM_000138.5(FBN1):c.433T>G (p.Cys145Gly)
|
rs1555405031
|
|
|
NM_000138.5(FBN1):c.4346_4349dup (p.Cys1450Ter)
|
rs1555397420
|
|
|
NM_000138.5(FBN1):c.4348T>A (p.Cys1450Ser)
|
rs1555397421
|
|
|
NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe)
|
rs1555397419
|
|
|
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr)
|
rs397515805
|
|
|
NM_000138.5(FBN1):c.4367G>T (p.Cys1456Phe)
|
rs397515805
|
|
|
NM_000138.5(FBN1):c.4388A>C (p.Asn1463Thr)
|
|
|
|
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser)
|
rs1555397413
|
|
|
NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro)
|
rs397515808
|
|
|
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup)
|
rs1555397404
|
|
|
NM_000138.5(FBN1):c.4409G>C (p.Cys1470Ser)
|
|
|
|
NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg)
|
rs1555397403
|
|
|
NM_000138.5(FBN1):c.442+1G>C
|
|
|
|
NM_000138.5(FBN1):c.4424G>C (p.Gly1475Ala)
|
|
|
|
NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg)
|
rs730880101
|
|
|
NM_000138.5(FBN1):c.4454G>A (p.Cys1485Tyr)
|
rs111978932
|
|
|
NM_000138.5(FBN1):c.4459+2T>G
|
rs1555397393
|
|
|
NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn)
|
rs113693945
|
|
|
NM_000138.5(FBN1):c.4460-1G>C
|
rs113082854
|
|
|
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala)
|
rs1555397216
|
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
|
NM_000138.5(FBN1):c.4474del (p.Leu1492fs)
|
rs1555397214
|
|
|
NM_000138.5(FBN1):c.4475del (p.Leu1492fs)
|
|
|
|
NM_000138.5(FBN1):c.4489T>A (p.Cys1497Ser)
|
rs1555397213
|
|
|
NM_000138.5(FBN1):c.4490G>A (p.Cys1497Tyr)
|
rs1555397212
|
|
|
NM_000138.5(FBN1):c.4491C>G (p.Cys1497Trp)
|
rs2043341481
|
|
|
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr)
|
rs397515810
|
|
|
NM_000138.5(FBN1):c.4510A>T (p.Asn1504Tyr)
|
rs1555397211
|
|
|
NM_000138.5(FBN1):c.4511A>T (p.Asn1504Ile)
|
rs1555397209
|
|
|
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp)
|
rs794728225
|
|
|
NM_000138.5(FBN1):c.4523G>T (p.Ser1508Ile)
|
rs1555397207
|
|
|
NM_000138.5(FBN1):c.4525T>G (p.Tyr1509Asp)
|
|
|
|
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys)
|
rs730880102
|
|
|
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg)
|
rs397515811
|
|
|
NM_000138.5(FBN1):c.4531T>G (p.Cys1511Gly)
|
rs397515811
|
|
|
NM_000138.5(FBN1):c.4538G>A (p.Cys1513Tyr)
|
rs1555397204
|
|
|
NM_000138.5(FBN1):c.4538G>T (p.Cys1513Phe)
|
rs1555397204
|
|
|
NM_000138.5(FBN1):c.454A>T (p.Ser152Cys)
|
rs193922206
|
|
|
NM_000138.5(FBN1):c.4562C>T (p.Pro1521Leu)
|
rs2141272892
|
|
|
NM_000138.5(FBN1):c.4579_4580del (p.Cys1526_Val1527insTer)
|
rs1555397197
|
|
|
NM_000138.5(FBN1):c.4582+1G>A
|
rs1555397195
|
|
|
NM_000138.5(FBN1):c.4583-1G>A
|
rs1555397176
|
|
|
NM_000138.5(FBN1):c.4583-5A>G
|
rs778966916
|
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
|
NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro)
|
rs778710767
|
|
|
NM_000138.5(FBN1):c.4589G>T (p.Arg1530Leu)
|
|
|
|
NM_000138.5(FBN1):c.458del (p.Gly153fs)
|
|
|
|
NM_000138.5(FBN1):c.4602C>G (p.Cys1534Trp)
|
rs1555397174
|
|
|
NM_000138.5(FBN1):c.460T>C (p.Cys154Arg)
|
|
|
|
NM_000138.5(FBN1):c.461G>A (p.Cys154Tyr)
|
|
|
|
NM_000138.5(FBN1):c.4629del (p.Asp1543fs)
|
rs2043337738
|
|
|
NM_000138.5(FBN1):c.4649del (p.Ser1550fs)
|
rs1597548716
|
|
|
NM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser)
|
rs193922207
|
|
|
NM_000138.5(FBN1):c.4685G>T (p.Cys1562Phe)
|
rs2141272349
|
|
|
NM_000138.5(FBN1):c.4687T>A (p.Cys1563Ser)
|
rs1597548672
|
|
|
NM_000138.5(FBN1):c.4694C>T (p.Ser1565Phe)
|
rs1555397156
|
|
|
NM_000138.5(FBN1):c.4700del (p.Gly1567fs)
|
rs1566904526
|
|
|
NM_000138.5(FBN1):c.4729T>C (p.Cys1577Arg)
|
|
|
|
NM_000138.5(FBN1):c.4741_4747+7del
|
|
|
|
NM_000138.5(FBN1):c.4747+1G>A
|
rs2141272220
|
|
|
NM_000138.5(FBN1):c.4747+3A>T
|
rs1555397145
|
|
|
NM_000138.5(FBN1):c.4747+5G>T
|
rs193922209
|
|
|
NM_000138.5(FBN1):c.4748-1G>A
|
rs2141270027
|
|
|
NM_000138.5(FBN1):c.4748-2A>G
|
rs2141270032
|
|
|
NM_000138.5(FBN1):c.4766G>T (p.Cys1589Phe)
|
rs1555397024
|
|
|
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp)
|
rs267606798
|
|
|
NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro)
|
rs769588424
|
|
|
NM_000138.5(FBN1):c.478T>C (p.Cys160Arg)
|
rs1057518973
|
|
|
NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr)
|
rs1555404810
|
|
|
NM_000138.5(FBN1):c.47T>C (p.Leu16Pro)
|
|
|
|
NM_000138.5(FBN1):c.4815A>G (p.Glu1605=)
|
rs869025408
|
|
|
NM_000138.5(FBN1):c.4816+1G>T
|
rs1555397014
|
|
|
NM_000138.5(FBN1):c.4816+2T>C
|
rs1597547226
|
|
|
NM_000138.5(FBN1):c.4817-2A>G
|
rs1555397008
|
|
|
NM_000138.5(FBN1):c.4818_4826del
|
|
|
|
NM_000138.5(FBN1):c.4829G>A (p.Cys1610Tyr)
|
|
|
|
NM_000138.5(FBN1):c.4857_4865del (p.Gly1620_Cys1622del)
|
rs2141269721
|
|
|
NM_000138.5(FBN1):c.488del (p.Pro163fs)
|
rs1555404806
|
|
|
NM_000138.5(FBN1):c.4891T>A (p.Cys1631Ser)
|
rs1555396998
|
|
|
NM_000138.5(FBN1):c.4897T>C (p.Cys1633Arg)
|
|
|
|
NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr)
|
rs397515814
|
|
|
NM_000138.5(FBN1):c.4937G>T (p.Cys1646Phe)
|
rs397515814
|
|
|
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn)
|
rs397515816
|
|
|
NM_000138.5(FBN1):c.4943-1G>A
|
rs1555396863
|
|
|
NM_000138.5(FBN1):c.4943-1G>C
|
rs1555396863
|
|
|
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr)
|
rs397515817
|
|
|
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg)
|
rs363852
|
|
|
NM_000138.5(FBN1):c.497G>A (p.Cys166Tyr)
|
rs397515818
|
|
|
NM_000138.5(FBN1):c.497G>C (p.Cys166Ser)
|
rs397515818
|
|
|
NM_000138.5(FBN1):c.4988G>C (p.Cys1663Ser)
|
rs1555396853
|
|
|
NM_000138.5(FBN1):c.4996_5007del (p.Thr1666_Asn1669del)
|
rs2141267678
|
|
|
NM_000138.5(FBN1):c.5006_5013del (p.Asn1669fs)
|
|
|
|
NM_000138.5(FBN1):c.5016dup (p.Ile1673fs)
|
rs869025426
|
|
|
NM_000138.5(FBN1):c.5020T>C (p.Cys1674Arg)
|
rs1555396844
|
|
|
NM_000138.5(FBN1):c.502T>G (p.Cys168Gly)
|
rs2044515247
|
|
|
NM_000138.5(FBN1):c.503G>T (p.Cys168Phe)
|
rs1555404803
|
|
|
NM_000138.5(FBN1):c.504C>G (p.Cys168Trp)
|
rs200295020
|
|
|
NM_000138.5(FBN1):c.5060G>A (p.Cys1687Tyr)
|
|
|
|
NM_000138.5(FBN1):c.5060G>T (p.Cys1687Phe)
|
|
|
|
NM_000138.5(FBN1):c.5061C>A (p.Cys1687Ter)
|
rs1555396838
|
|
|
NM_000138.5(FBN1):c.5065+1G>C
|
rs1296209846
|
|
|
NM_000138.5(FBN1):c.5065+1G>T
|
rs1296209846
|
|
|
NM_000138.5(FBN1):c.5066-9_5086dup
|
rs1566903283
|
|
|
NM_000138.5(FBN1):c.5066del (p.Asp1689fs)
|
rs727504347
|
|
|
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)
|
rs1555396789
|
|
|
NM_000138.5(FBN1):c.5083T>G (p.Cys1695Gly)
|
rs1597545345
|
|
|
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys)
|
rs387906626
|
|
|
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)
|
rs111671429
|
|
|
NM_000138.5(FBN1):c.510del (p.Thr169_Tyr170insTer)
|
rs1597623670
|
|
|
NM_000138.5(FBN1):c.5156G>A (p.Cys1719Tyr)
|
rs1555396769
|
|
|
NM_000138.5(FBN1):c.5158T>C (p.Cys1720Arg)
|
rs1597545230
|
|
|
NM_000138.5(FBN1):c.5179del (p.Arg1727fs)
|
rs1555396765
|
|
|
NM_000138.5(FBN1):c.5207G>A (p.Cys1736Tyr)
|
rs1060501070
|
|
|
NM_000138.5(FBN1):c.5224+2T>A
|
|
|
|
NM_000138.5(FBN1):c.5225-2A>C
|
rs1555396639
|
|
|
NM_000138.5(FBN1):c.5225-2A>G
|
|
|
|
NM_000138.5(FBN1):c.5225-3C>G
|
|
|
|
NM_000138.5(FBN1):c.5240_5251del (p.Leu1747_Ser1750del)
|
|
|
|
NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter)
|
rs397515820
|
|
|
NM_000138.5(FBN1):c.5261G>A (p.Gly1754Asp)
|
|
|
|
NM_000138.5(FBN1):c.5261G>T (p.Gly1754Val)
|
|
|
|
NM_000138.5(FBN1):c.5267T>C (p.Val1756Ala)
|
|
|
|
NM_000138.5(FBN1):c.5277T>G (p.Ile1759Met)
|
|
|
|
NM_000138.5(FBN1):c.527A>C (p.Gln176Pro)
|
|
|
|
NM_000138.5(FBN1):c.5280T>A (p.Tyr1760Ter)
|
rs730880103
|
|
|
NM_000138.5(FBN1):c.5296+1G>C
|
rs1555396630
|
|
|
NM_000138.5(FBN1):c.5296+6T>C
|
rs1555396629
|
|
|
NM_000138.5(FBN1):c.529T>C (p.Cys177Arg)
|
rs363853
|
|
|
NM_000138.5(FBN1):c.52del (p.Ala18fs)
|
rs1555407423
|
|
|
NM_000138.5(FBN1):c.5305G>A (p.Glu1769Lys)
|
rs2141260472
|
|
|
NM_000138.5(FBN1):c.5309G>A (p.Cys1770Tyr)
|
rs2043241537
|
|
|
NM_000138.5(FBN1):c.531dup (p.Glu178Ter)
|
rs1555404800
|
|
|
NM_000138.5(FBN1):c.5329T>C (p.Cys1777Arg)
|
rs1597540907
|
|
|
NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr)
|
rs1060501069
|
|
|
NM_000138.5(FBN1):c.5353_5354del (p.Met1785fs)
|
|
|
|
NM_000138.5(FBN1):c.5360G>A (p.Gly1787Asp)
|
rs2141260386
|
|
|
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln)
|
rs1555396428
|
|
|
NM_000138.5(FBN1):c.5369G>C (p.Arg1790Pro)
|
rs1555396428
|
|
|
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr)
|
rs886038848
|
|
|
NM_000138.5(FBN1):c.5416T>C (p.Cys1806Arg)
|
rs1555396419
|
|
|
NM_000138.5(FBN1):c.5416T>G (p.Cys1806Gly)
|
rs1555396419
|
|
|
NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe)
|
rs1555396418
|
|
|
NM_000138.5(FBN1):c.5422+1del
|
rs2141260277
|
|
|
NM_000138.5(FBN1):c.5422G>A (p.Asp1808Asn)
|
|
|
|
NM_000138.5(FBN1):c.5422_5422+1delinsTT
|
rs1566901570
|
|
|
NM_000138.5(FBN1):c.5423-1G>C
|
|
|
|
NM_000138.5(FBN1):c.5423-2A>G
|
rs1566900540
|
|
|
NM_000138.5(FBN1):c.542A>G (p.Tyr181Cys)
|
|
|
|
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys)
|
rs761857514
|
|
|
NM_000138.5(FBN1):c.5435G>A (p.Cys1812Tyr)
|
rs1555396213
|
|
|
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter)
|
rs397515821
|
|
|
NM_000138.5(FBN1):c.5452T>G (p.Cys1818Gly)
|
|
|
|
NM_000138.5(FBN1):c.5453G>A (p.Cys1818Tyr)
|
rs2141256069
|
|
|
NM_000138.5(FBN1):c.5479A>C (p.Thr1827Pro)
|
|
|
|
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg)
|
rs1597537835
|
|
|
NM_000138.5(FBN1):c.5488_5511del (p.Ser1830_Pro1837del)
|
|
|
|
NM_000138.5(FBN1):c.5498G>A (p.Cys1833Tyr)
|
rs1597537815
|
|
|
NM_000138.5(FBN1):c.5499dup (p.Asp1834Ter)
|
rs1555396199
|
|
|
NM_000138.5(FBN1):c.5503T>C (p.Cys1835Arg)
|
rs1555396198
|
|
|
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr)
|
rs111929350
|
|
|
NM_000138.5(FBN1):c.5504G>T (p.Cys1835Phe)
|
rs111929350
|
|
|
NM_000138.5(FBN1):c.5512G>C (p.Gly1838Arg)
|
rs397515823
|
|
|
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys)
|
rs397515823
|
|
|
NM_000138.5(FBN1):c.5539T>C (p.Cys1847Arg)
|
rs1555396186
|
|
|
NM_000138.5(FBN1):c.5545+1G>A
|
rs1260109901
|
|
|
NM_000138.5(FBN1):c.5545+1_5545+2insAAACAGTTTAAAGGAAAA
|
|
|
|
NM_000138.5(FBN1):c.5545+1del
|
rs1566900469
|
|
|
NM_000138.5(FBN1):c.5545+2T>C
|
rs2043209059
|
|
|
NM_000138.5(FBN1):c.5546-1G>A
|
rs1566899590
|
|
|
NM_000138.5(FBN1):c.554_556del (p.Pro185_Cys186delinsArg)
|
rs1555401701
|
|
|
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser)
|
rs193922214
|
|
|
NM_000138.5(FBN1):c.5555A>C (p.Glu1852Ala)
|
|
|
|
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu)
|
rs113086760
|
|
|
NM_000138.5(FBN1):c.5593T>C (p.Cys1865Arg)
|
rs1555395984
|
|
|
NM_000138.5(FBN1):c.5593T>G (p.Cys1865Gly)
|
|
|
|
NM_000138.5(FBN1):c.561del (p.Phe187fs)
|
rs397515825
|
|
|
NM_000138.5(FBN1):c.5621G>T (p.Cys1874Phe)
|
rs2141252159
|
|
|
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg)
|
rs1555395980
|
|
|
NM_000138.5(FBN1):c.5628C>G (p.Cys1876Trp)
|
rs2141252143
|
|
|
NM_000138.5(FBN1):c.5636G>T (p.Gly1879Val)
|
|
|
|
NM_000138.5(FBN1):c.5666G>A (p.Cys1889Tyr)
|
rs1566899500
|
|
|
NM_000138.5(FBN1):c.5667_5668insTTGGA (p.Ile1892fs)
|
|
|
|
NM_000138.5(FBN1):c.5671G>A (p.Asp1891Asn)
|
rs193922216
|
|
|
NM_000138.5(FBN1):c.5671G>C (p.Asp1891His)
|
rs193922216
|
|
|
NM_000138.5(FBN1):c.5671G>T (p.Asp1891Tyr)
|
|
|
|
NM_000138.5(FBN1):c.5672-1G>A
|
rs1555395849
|
|
|
NM_000138.5(FBN1):c.5672-2A>T
|
|
|
|
NM_000138.5(FBN1):c.5672-87A>G
|
rs1060501029
|
|
|
NM_000138.5(FBN1):c.5678A>G (p.Asn1893Ser)
|
rs1597533707
|
|
|
NM_000138.5(FBN1):c.5679T>G (p.Asn1893Lys)
|
rs1597533706
|
|
|
NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg)
|
rs878853686
|
|
|
NM_000138.5(FBN1):c.5699G>T (p.Cys1900Phe)
|
rs794728237
|
|
|
NM_000138.5(FBN1):c.56C>T (p.Ser19Phe)
|
rs193922218
|
|
|
NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp)
|
rs397515824
|
|
|
NM_000138.5(FBN1):c.5721C>G (p.Asn1907Lys)
|
rs397515826
|
|
|
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)
|
rs794728333
|
|
|
NM_000138.5(FBN1):c.5728G>T (p.Gly1910Cys)
|
rs1597533619
|
|
|
NM_000138.5(FBN1):c.5734_5736del (p.Phe1912del)
|
|
|
|
NM_000138.5(FBN1):c.5740T>G (p.Cys1914Gly)
|
rs2141250333
|
|
|
NM_000138.5(FBN1):c.5741G>A (p.Cys1914Tyr)
|
|
|
|
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)
|
rs1555395826
|
|
|
NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr)
|
rs397515827
|
|
|
NM_000138.5(FBN1):c.5756G>A (p.Gly1919Asp)
|
|
|
|
NM_000138.5(FBN1):c.5756G>T (p.Gly1919Val)
|
|
|
|
NM_000138.5(FBN1):c.577del (p.Gln193fs)
|
rs1555401697
|
|
|
NM_000138.5(FBN1):c.5782T>C (p.Cys1928Arg)
|
rs2043162224
|
|
|
NM_000138.5(FBN1):c.5788+1G>T
|
rs1555395819
|
|
|
NM_000138.5(FBN1):c.5788+2T>C
|
rs1555395818
|
|
|
NM_000138.5(FBN1):c.5788+5G>T
|
rs193922219
|
|
|
NM_000138.5(FBN1):c.5788G>T (p.Asp1930Tyr)
|
rs1555395820
|
|
|
NM_000138.5(FBN1):c.5789-14G>A
|
|
|
|
NM_000138.5(FBN1):c.5789-1G>A
|
rs2043152080
|
|
|
NM_000138.5(FBN1):c.5789A>G (p.Asp1930Gly)
|
|
|
|
NM_000138.5(FBN1):c.5800T>A (p.Cys1934Ser)
|
rs1555395767
|
|
|
NM_000138.5(FBN1):c.5800T>C (p.Cys1934Arg)
|
rs1555395767
|
|
|
NM_000138.5(FBN1):c.5824T>A (p.Cys1942Ser)
|
rs1555395762
|
|
|
NM_000138.5(FBN1):c.5824T>G (p.Cys1942Gly)
|
rs1555395762
|
|
|
NM_000138.5(FBN1):c.5825G>A (p.Cys1942Tyr)
|
rs794728241
|
|
|
NM_000138.5(FBN1):c.5839T>C (p.Cys1947Arg)
|
rs1131691938
|
|
|
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr)
|
rs397515828
|
|
|
NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val)
|
rs2141249218
|
|
|
NM_000138.5(FBN1):c.5857dup (p.Ser1953fs)
|
rs1555395757
|
|
|
NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys)
|
rs730880104
|
|
|
NM_000138.5(FBN1):c.5862C>G (p.Phe1954Leu)
|
|
|
|
NM_000138.5(FBN1):c.5863CAGTGC[1] (p.1955QC[1])
|
|
|
|
NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter)
|
rs397515829
|
|
|
NM_000138.5(FBN1):c.5872T>C (p.Cys1958Arg)
|
|
|
|
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys)
|
rs1346043320
|
|
|
NM_000138.5(FBN1):c.5888del (p.Glu1963fs)
|
rs727504315
|
|
|
NM_000138.5(FBN1):c.590del (p.Gly197fs)
|
rs1555401695
|
|
|
NM_000138.5(FBN1):c.5911T>G (p.Cys1971Gly)
|
rs1555395745
|
|
|
NM_000138.5(FBN1):c.5912G>A (p.Cys1971Tyr)
|
rs111239111
|
|
|
NM_000138.5(FBN1):c.5917+1G>T
|
rs363808
|
|
|
NM_000138.5(FBN1):c.5917+1_5917+11del
|
rs2141249066
|
|
|
NM_000138.5(FBN1):c.5917+5G>A
|
rs1555395743
|
|
|
NM_000138.5(FBN1):c.5917+6T>C
|
rs1555395742
|
|
|
NM_000138.5(FBN1):c.5918-2A>G
|
rs869025418
|
|
|
NM_000138.5(FBN1):c.5919dup (p.Ile1974fs)
|
rs1555395670
|
|
|
NM_000138.5(FBN1):c.5925T>A (p.Asn1975Lys)
|
|
|
|
NM_000138.5(FBN1):c.5929T>A (p.Cys1977Ser)
|
rs2141248174
|
|
|
NM_000138.5(FBN1):c.5930G>A (p.Cys1977Tyr)
|
rs1555395663
|
|
|
NM_000138.5(FBN1):c.5950T>C (p.Cys1984Arg)
|
rs1555395659
|
|
|
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr)
|
rs1555395658
|
|
|
NM_000138.5(FBN1):c.5952T>G (p.Cys1984Trp)
|
|
|
|
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg)
|
rs727504642
|
|
|
NM_000138.5(FBN1):c.5959G>T (p.Gly1987Cys)
|
|
|
|
NM_000138.5(FBN1):c.5965T>A (p.Cys1989Ser)
|
rs2043139988
|
|
|
NM_000138.5(FBN1):c.5965T>G (p.Cys1989Gly)
|
rs2043139988
|
|
|
NM_000138.5(FBN1):c.5966G>C (p.Cys1989Ser)
|
rs1597531796
|
|
|
NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe)
|
rs1597531796
|
|
|
NM_000138.5(FBN1):c.5993G>T (p.Cys1998Phe)
|
rs1085307531
|
|
|
NM_000138.5(FBN1):c.5994C>G (p.Cys1998Trp)
|
rs1555395648
|
|
|
NM_000138.5(FBN1):c.5999G>A (p.Cys2000Tyr)
|
rs1555395645
|
|
|
NM_000138.5(FBN1):c.6004C>T (p.Pro2002Ser)
|
rs1057519320
|
|
|
NM_000138.5(FBN1):c.6006_6012dup (p.Ser2005fs)
|
rs193922220
|
|
|
NM_000138.5(FBN1):c.6012C>G (p.Tyr2004Ter)
|
|
|
|
NM_000138.5(FBN1):c.6012_6013del (p.Tyr2004_Ser2005delinsTer)
|
|
|
|
NM_000138.5(FBN1):c.6013_6014insTA (p.Ser2005fs)
|
|
|
|
NM_000138.5(FBN1):c.6019C>T (p.Gln2007Ter)
|
rs1555395641
|
|
|
NM_000138.5(FBN1):c.6031T>C (p.Cys2011Arg)
|
rs2141248001
|
|
|
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)
|
rs886038967
|
|
|
NM_000138.5(FBN1):c.6037+2_6037+24del
|
rs1555395636
|
|
|
NM_000138.5(FBN1):c.6037G>A (p.Asp2013Asn)
|
|
|
|
NM_000138.5(FBN1):c.6037G>C (p.Asp2013His)
|
rs1555395638
|
|
|
NM_000138.5(FBN1):c.6038-14T>G
|
|
|
|
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)
|
rs1555395486
|
|
|
NM_000138.5(FBN1):c.6070dup (p.Cys2024fs)
|
rs1597529829
|
|
|
NM_000138.5(FBN1):c.6079G>T (p.Gly2027Cys)
|
rs1566897404
|
|
|
NM_000138.5(FBN1):c.6080del (p.Gly2027fs)
|
rs1555395480
|
|
|
NM_000138.5(FBN1):c.6086G>A (p.Cys2029Tyr)
|
rs1057517855
|
|
|
NM_000138.5(FBN1):c.6087C>G (p.Cys2029Trp)
|
rs1555395475
|
|
|
NM_000138.5(FBN1):c.6113G>C (p.Cys2038Ser)
|
rs363804
|
|
|
NM_000138.5(FBN1):c.6114T>G (p.Cys2038Trp)
|
|
|
|
NM_000138.5(FBN1):c.6118T>C (p.Cys2040Arg)
|
rs1597529748
|
|
|
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr)
|
rs397515830
|
|
|
NM_000138.5(FBN1):c.6163+1G>A
|
rs1566897374
|
|
|
NM_000138.5(FBN1):c.6163+1G>T
|
|
|
|
NM_000138.5(FBN1):c.6164-1G>C
|
rs1060501048
|
|
|
NM_000138.5(FBN1):c.6164-2A>G
|
rs794728244
|
|
|
NM_000138.5(FBN1):c.6181T>C (p.Cys2061Arg)
|
rs1555395267
|
|
|
NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter)
|
rs71467648
|
|
|
NM_000138.5(FBN1):c.619dup (p.Thr207fs)
|
rs1555401689
|
|
|
NM_000138.5(FBN1):c.6208T>C (p.Cys2070Arg)
|
|
|
|
NM_000138.5(FBN1):c.6209G>A (p.Cys2070Tyr)
|
rs1060501044
|
|
|
NM_000138.5(FBN1):c.6209G>T (p.Cys2070Phe)
|
rs1060501044
|
|
|
NM_000138.5(FBN1):c.6236C>G (p.Ser2079Cys)
|
rs1555395263
|
|
|
NM_000138.5(FBN1):c.6244G>T (p.Glu2082Ter)
|
rs1052480459
|
|
|
NM_000138.5(FBN1):c.6250T>A (p.Cys2084Ser)
|
rs2141241499
|
|
|
NM_000138.5(FBN1):c.6251G>A (p.Cys2084Tyr)
|
rs794728245
|
|
|
NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr)
|
rs1555395261
|
|
|
NM_000138.5(FBN1):c.6254G>C (p.Cys2085Ser)
|
rs1555395261
|
|
|
NM_000138.5(FBN1):c.626G>C (p.Cys209Ser)
|
rs1555401687
|
|
|
NM_000138.5(FBN1):c.6272G>A (p.Gly2091Asp)
|
rs878853687
|
|
|
NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg)
|
rs794728246
|
|
|
NM_000138.5(FBN1):c.6277G>A (p.Gly2093Arg)
|
rs1064793117
|
|
|
NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter)
|
rs397515831
|
|
|
NM_000138.5(FBN1):c.629G>A (p.Cys210Tyr)
|
rs1085307468
|
|
|
NM_000138.5(FBN1):c.6313+2T>C
|
rs1555395257
|
|
|
NM_000138.5(FBN1):c.6313G>A (p.Glu2105Lys)
|
rs794728247
|
|
|
NM_000138.5(FBN1):c.6313_6313+1delinsAC
|
|
|
|
NM_000138.5(FBN1):c.6314-3del
|
rs2141240967
|
|
|
NM_000138.5(FBN1):c.6314-7_6322del
|
rs2141240946
|
|
|
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys)
|
rs1246984265
|
|
|
NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg)
|
rs363815
|
|
|
NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr)
|
rs1131691467
|
|
|
NM_000138.5(FBN1):c.6340G>T (p.Gly2114Ter)
|
|
|
|
NM_000138.5(FBN1):c.634A>C (p.Thr212Pro)
|
rs1597593736
|
|
|
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met)
|
rs112989722
|
|
|
NM_000138.5(FBN1):c.6373_6379+1dup
|
|
|
|
NM_000138.5(FBN1):c.6379+1G>A
|
rs397515833
|
|
|
NM_000138.5(FBN1):c.6379+2T>C
|
rs113453570
|
|
|
NM_000138.5(FBN1):c.6379+2T>G
|
rs113453570
|
|
|
NM_000138.5(FBN1):c.6379G>A (p.Asp2127Asn)
|
rs1555395225
|
|
|
NM_000138.5(FBN1):c.6380-2A>C
|
rs886041482
|
|
|
NM_000138.5(FBN1):c.6380-2A>G
|
rs886041482
|
|
|
NM_000138.5(FBN1):c.6380A>G (p.Asp2127Gly)
|
rs2141240523
|
|
|
NM_000138.5(FBN1):c.6380A>T (p.Asp2127Val)
|
rs2141240523
|
|
|
NM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr)
|
rs193922223
|
|
|
NM_000138.5(FBN1):c.6386A>G (p.Asp2129Gly)
|
rs1566896114
|
|
|
NM_000138.5(FBN1):c.6386A>T (p.Asp2129Val)
|
rs1566896114
|
|
|
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)
|
rs794728334
|
|
|
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)
|
rs794728162
|
|
|
NM_000138.5(FBN1):c.6414del (p.Lys2138fs)
|
rs1555395205
|
|
|
NM_000138.5(FBN1):c.6419G>A (p.Gly2140Glu)
|
rs1064793118
|
|
|
NM_000138.5(FBN1):c.6424T>A (p.Cys2142Ser)
|
rs1555395203
|
|
|
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr)
|
rs794728335
|
|
|
NM_000138.5(FBN1):c.6430A>C (p.Asn2144His)
|
rs886038943
|
|
|
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)
|
rs137854461
|
|
|
NM_000138.5(FBN1):c.6449G>A (p.Arg2150His)
|
|
|
|
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)
|
rs794728251
|
|
|
NM_000138.5(FBN1):c.6483_6496+1del
|
rs2141240279
|
|
|
NM_000138.5(FBN1):c.6490T>G (p.Cys2164Gly)
|
rs2141240296
|
|
|
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr)
|
rs1555395189
|
|
|
NM_000138.5(FBN1):c.6496+1G>A
|
rs1555395188
|
|
|
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn)
|
rs794728252
|
|
|
NM_000138.5(FBN1):c.6497-1G>A
|
|
|
|
NM_000138.5(FBN1):c.649T>G (p.Trp217Gly)
|
rs193922224
|
|
|
NM_000138.5(FBN1):c.6505G>A (p.Glu2169Lys)
|
|
|
|
NM_000138.5(FBN1):c.6505G>T (p.Glu2169Ter)
|
|
|
|
NM_000138.5(FBN1):c.6508T>C (p.Cys2170Arg)
|
rs1597523873
|
|
|
NM_000138.5(FBN1):c.6509G>A (p.Cys2170Tyr)
|
rs363821
|
|
|
NM_000138.5(FBN1):c.6524del (p.Pro2175fs)
|
rs1555395013
|
|
|
NM_000138.5(FBN1):c.6527G>A (p.Cys2176Tyr)
|
|
|
|
NM_000138.5(FBN1):c.6528T>G (p.Cys2176Trp)
|
rs2141237128
|
|
|
NM_000138.5(FBN1):c.6541T>C (p.Cys2181Arg)
|
rs1131691373
|
|
|
NM_000138.5(FBN1):c.6549T>G (p.Asn2183Lys)
|
rs752192006
|
|
|
NM_000138.5(FBN1):c.6553_6556dup (p.Gly2186fs)
|
rs193922225
|
|
|
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr)
|
rs910656654
|
|
|
NM_000138.5(FBN1):c.6563T>G (p.Phe2188Cys)
|
|
|
|
NM_000138.5(FBN1):c.6568T>A (p.Cys2190Ser)
|
rs1566895263
|
|
|
NM_000138.5(FBN1):c.6568T>C (p.Cys2190Arg)
|
|
|
|
NM_000138.5(FBN1):c.6568T>G (p.Cys2190Gly)
|
|
|
|
NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr)
|
|
|
|
NM_000138.5(FBN1):c.6569G>T (p.Cys2190Phe)
|
rs1566895262
|
|
|
NM_000138.5(FBN1):c.6575G>A (p.Cys2192Tyr)
|
rs2043050838
|
|
|
NM_000138.5(FBN1):c.6576C>G (p.Cys2192Trp)
|
rs369058466
|
|
|
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg)
|
rs886038976
|
|
|
NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg)
|
rs1555395001
|
|
|
NM_000138.5(FBN1):c.6611G>C (p.Cys2204Ser)
|
|
|
|
NM_000138.5(FBN1):c.6611G>T (p.Cys2204Phe)
|
rs886039158
|
|
|
NM_000138.5(FBN1):c.6615A>G (p.Glu2205=)
|
|
|
|
NM_000138.5(FBN1):c.6616+1G>A
|
rs1064793980
|
|
|
NM_000138.5(FBN1):c.6616+1G>T
|
rs1064793980
|
|
|
NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn)
|
rs1555394999
|
|
|
NM_000138.5(FBN1):c.6617-9_6617-8inv
|
|
|
|
NM_000138.5(FBN1):c.6623A>C (p.Asn2208Thr)
|
|
|
|
NM_000138.5(FBN1):c.6628T>A (p.Cys2210Ser)
|
rs794728253
|
|
|
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr)
|
rs2141235242
|
|
|
NM_000138.5(FBN1):c.6630T>G (p.Cys2210Trp)
|
rs397515836
|
|
|
NM_000138.5(FBN1):c.6645del (p.Leu2216fs)
|
rs1555394928
|
|
|
NM_000138.5(FBN1):c.6656dup (p.Arg2220fs)
|
rs1555394925
|
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
|
NM_000138.5(FBN1):c.6669C>A (p.Asn2223Lys)
|
|
|
|
NM_000138.5(FBN1):c.6670dup (p.Thr2224fs)
|
|
|
|
NM_000138.5(FBN1):c.6688T>C (p.Cys2230Arg)
|
rs1555394906
|
|
|
NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr)
|
rs1555394904
|
|
|
NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg)
|
rs869025411
|
|
|
NM_000138.5(FBN1):c.6694T>G (p.Cys2232Gly)
|
|
|
|
NM_000138.5(FBN1):c.6695G>A (p.Cys2232Tyr)
|
rs1060501054
|
|
|
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser)
|
rs794728255
|
|
|
NM_000138.5(FBN1):c.6698C>A (p.Pro2233His)
|
rs1566894783
|
|
|
NM_000138.5(FBN1):c.6698C>T (p.Pro2233Leu)
|
rs1566894783
|
|
|
NM_000138.5(FBN1):c.6704G>T (p.Gly2235Val)
|
|
|
|
NM_000138.5(FBN1):c.6704del (p.Gly2235fs)
|
rs193922226
|
|
|
NM_000138.5(FBN1):c.6705del (p.Tyr2236fs)
|
rs1555394900
|
|
|
NM_000138.5(FBN1):c.670T>C (p.Cys224Arg)
|
rs1555401676
|
|
|
NM_000138.5(FBN1):c.671G>T (p.Cys224Phe)
|
|
|
|
NM_000138.5(FBN1):c.6739+1G>A
|
rs869025419
|
|
|
NM_000138.5(FBN1):c.6739+1G>C
|
rs869025419
|
|
|
NM_000138.5(FBN1):c.6739+2T>A
|
rs730880107
|
|
|
NM_000138.5(FBN1):c.6739+2T>C
|
|
|
|
NM_000138.5(FBN1):c.6740-10T>G
|
rs1456822662
|
|
|
NM_000138.5(FBN1):c.6740-2del
|
rs1555394783
|
|
|
NM_000138.5(FBN1):c.6740-3C>G
|
rs1566894334
|
|
|
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly)
|
rs1060501032
|
|
|
NM_000138.5(FBN1):c.6744_6746del (p.Glu2248del)
|
|
|
|
NM_000138.5(FBN1):c.6749A>T (p.Glu2250Val)
|
rs2043018196
|
|
|
NM_000138.5(FBN1):c.6752G>A (p.Cys2251Tyr)
|
rs794728256
|
|
|
NM_000138.5(FBN1):c.6770_6771dup (p.Cys2258fs)
|
rs1555394779
|
|
|
NM_000138.5(FBN1):c.6772T>C (p.Cys2258Arg)
|
rs1057520617
|
|
|
NM_000138.5(FBN1):c.6773_6774del (p.Cys2258fs)
|
rs1555394777
|
|
|
NM_000138.5(FBN1):c.6786_6787del (p.Gln2262fs)
|
rs1555394776
|
|
|
NM_000138.5(FBN1):c.6790del (p.Glu2264fs)
|
rs1555394775
|
|
|
NM_000138.5(FBN1):c.6793_6800dup (p.Leu2268fs)
|
rs193922227
|
|
|
NM_000138.5(FBN1):c.6801C>A (p.Asn2267Lys)
|
rs886051245
|
|
|
NM_000138.5(FBN1):c.6801C>G (p.Asn2267Lys)
|
rs886051245
|
|
|
NM_000138.5(FBN1):c.6806T>A (p.Ile2269Asn)
|
rs193922228
|
|
|
NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys)
|
rs2141232534
|
|
|
NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg)
|
rs869025412
|
|
|
NM_000138.5(FBN1):c.6826T>G (p.Cys2276Gly)
|
rs2043017257
|
|
|
NM_000138.5(FBN1):c.6828T>G (p.Cys2276Trp)
|
rs1597520625
|
|
|
NM_000138.5(FBN1):c.6841C>T (p.Gln2281Ter)
|
rs397515840
|
|
|
NM_000138.5(FBN1):c.6856G>T (p.Gly2286Ter)
|
rs1555394756
|
|
|
NM_000138.5(FBN1):c.6865T>A (p.Cys2289Ser)
|
|
|
|
NM_000138.5(FBN1):c.6865T>C (p.Cys2289Arg)
|
rs869025413
|
|
|
NM_000138.5(FBN1):c.6866G>C (p.Cys2289Ser)
|
rs1566894230
|
|
|
NM_000138.5(FBN1):c.6872-14A>G
|
rs1064793119
|
|
|
NM_000138.5(FBN1):c.6872-955C>G
|
|
|
|
NM_000138.5(FBN1):c.6872-961A>G
|
rs1597519658
|
|
|
NM_000138.5(FBN1):c.6881A>C (p.Glu2294Ala)
|
rs1555394647
|
|
|
NM_000138.5(FBN1):c.6883T>G (p.Cys2295Gly)
|
rs1555394644
|
|
|
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr)
|
rs886038949
|
|
|
NM_000138.5(FBN1):c.6885T>G (p.Cys2295Trp)
|
rs1480832655
|
|
|
NM_000138.5(FBN1):c.6906T>G (p.Cys2302Trp)
|
rs1555394634
|
|
|
NM_000138.5(FBN1):c.6916_6934del (p.Arg2306fs)
|
rs1555394630
|
|
|
NM_000138.5(FBN1):c.6920G>A (p.Cys2307Tyr)
|
rs137854457
|
|
|
NM_000138.5(FBN1):c.6927del (p.Asn2309fs)
|
rs1555394633
|
|
|
NM_000138.5(FBN1):c.6932dup (p.Gly2312fs)
|
rs1555394631
|
|
|
NM_000138.5(FBN1):c.6947G>A (p.Cys2316Tyr)
|
rs1555394629
|
|
|
NM_000138.5(FBN1):c.6947G>T (p.Cys2316Phe)
|
rs1555394629
|
|
|
NM_000138.5(FBN1):c.6949G>T (p.Glu2317Ter)
|
rs1555394628
|
|
|
NM_000138.5(FBN1):c.6952T>C (p.Cys2318Arg)
|
rs111588631
|
|
|
NM_000138.5(FBN1):c.6953G>A (p.Cys2318Tyr)
|
rs1555394626
|
|
|
NM_000138.5(FBN1):c.6964delinsGG (p.Phe2322fs)
|
|
|
|
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys)
|
rs397515841
|
|
|
NM_000138.5(FBN1):c.6991T>C (p.Cys2331Arg)
|
|
|
|
NM_000138.5(FBN1):c.6992G>T (p.Cys2331Phe)
|
rs397515842
|
|
|
NM_000138.5(FBN1):c.6992_6997+6del
|
rs2141229796
|
|
|
NM_000138.5(FBN1):c.6993C>A (p.Cys2331Ter)
|
rs534811966
|
|
|
NM_000138.5(FBN1):c.6997+1G>A
|
rs2042997306
|
|
|
NM_000138.5(FBN1):c.6997+4A>G
|
rs727503055
|
|
|
NM_000138.5(FBN1):c.6997+5G>C
|
|
|
|
NM_000138.5(FBN1):c.6998-13A>G
|
rs2042989627
|
|
|
NM_000138.5(FBN1):c.7003C>G (p.Arg2335Gly)
|
rs794728262
|
|
|
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)
|
rs794728262
|
|
|
NM_000138.5(FBN1):c.700G>T (p.Gly234Cys)
|
|
|
|
NM_000138.5(FBN1):c.7014C>G (p.Tyr2338Ter)
|
rs1555394582
|
|
|
NM_000138.5(FBN1):c.7015T>G (p.Cys2339Gly)
|
|
|
|
NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr)
|
rs1555394580
|
|
|
NM_000138.5(FBN1):c.7022_7023del (p.Thr2341fs)
|
rs1555394579
|
|
|
NM_000138.5(FBN1):c.7043G>A (p.Cys2348Tyr)
|
|
|
|
NM_000138.5(FBN1):c.7071del (p.Val2358fs)
|
rs1555394571
|
|
|
NM_000138.5(FBN1):c.7084G>T (p.Glu2362Ter)
|
rs1555394570
|
|
|
NM_000138.5(FBN1):c.7087T>A (p.Cys2363Ser)
|
|
|
|
NM_000138.5(FBN1):c.7087T>G (p.Cys2363Gly)
|
rs1597517935
|
|
|
NM_000138.5(FBN1):c.7088G>T (p.Cys2363Phe)
|
rs2042988482
|
|
|
NM_000138.5(FBN1):c.7089CTG[1] (p.Cys2365del)
|
|
|
|
NM_000138.5(FBN1):c.7094G>A (p.Cys2365Tyr)
|
rs397515845
|
|
|
NM_000138.5(FBN1):c.7109del (p.Gly2370fs)
|
rs869025422
|
|
|
NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter)
|
rs1555394567
|
|
|
NM_000138.5(FBN1):c.7134C>G (p.Cys2378Trp)
|
rs1555394562
|
|
|
NM_000138.5(FBN1):c.7139del (p.Phe2380fs)
|
rs1555394561
|
|
|
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter)
|
rs869025414
|
|
|
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs)
|
rs869025423
|
|
|
NM_000138.5(FBN1):c.7168T>A (p.Cys2390Ser)
|
rs397515847
|
|
|
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg)
|
rs397515847
|
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
|
NM_000138.5(FBN1):c.7191dup (p.Thr2398fs)
|
rs1555394559
|
|
|
NM_000138.5(FBN1):c.7204+1G>A
|
rs1555394557
|
|
|
NM_000138.5(FBN1):c.7204+1G>T
|
rs1555394557
|
|
|
NM_000138.5(FBN1):c.7204+2T>C
|
rs1555394556
|
|
|
NM_000138.5(FBN1):c.7204G>A (p.Asp2402Asn)
|
rs1057524757
|
|
|
NM_000138.5(FBN1):c.7205-2A>C
|
rs1555394450
|
|
|
NM_000138.5(FBN1):c.7216T>C (p.Cys2406Arg)
|
rs2042976167
|
|
|
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr)
|
rs1131691479
|
|
|
NM_000138.5(FBN1):c.7217G>C (p.Cys2406Ser)
|
|
|
|
NM_000138.5(FBN1):c.7217_7226delinsTACAGA (p.Cys2406fs)
|
rs1597516501
|
|
|
NM_000138.5(FBN1):c.7218C>G (p.Cys2406Trp)
|
|
|
|
NM_000138.5(FBN1):c.7229A>C (p.His2410Pro)
|
rs193922230
|
|
|
NM_000138.5(FBN1):c.7238G>C (p.Cys2413Ser)
|
rs1566892915
|
|
|
NM_000138.5(FBN1):c.7251_7262del (p.Glu2417_Asn2420del)
|
|
|
|
NM_000138.5(FBN1):c.7252T>A (p.Cys2418Ser)
|
rs1555394441
|
|
|
NM_000138.5(FBN1):c.7252T>C (p.Cys2418Arg)
|
rs1555394441
|
|
|
NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr)
|
rs794728270
|
|
|
NM_000138.5(FBN1):c.7259del (p.Asn2420fs)
|
rs869025424
|
|
|
NM_000138.5(FBN1):c.7267G>T (p.Gly2423Ter)
|
rs794728271
|
|
|
NM_000138.5(FBN1):c.7274A>G (p.Tyr2425Cys)
|
rs1057518809
|
|
|
NM_000138.5(FBN1):c.7279T>C (p.Cys2427Arg)
|
rs1566892883
|
|
|
NM_000138.5(FBN1):c.7279T>G (p.Cys2427Gly)
|
|
|
|
NM_000138.5(FBN1):c.7286G>A (p.Cys2429Tyr)
|
rs2141226916
|
|
|
NM_000138.5(FBN1):c.7298A>G (p.Tyr2433Cys)
|
rs1555394437
|
|
|
NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser)
|
rs1555394435
|
|
|
NM_000138.5(FBN1):c.7324T>C (p.Cys2442Arg)
|
|
|
|
NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr)
|
rs1597516347
|
|
|
NM_000138.5(FBN1):c.7330+3_7330+6del
|
rs1597516325
|
|
|
NM_000138.5(FBN1):c.7331-1G>C
|
rs1555394412
|
|
|
NM_000138.5(FBN1):c.7339G>C (p.Glu2447Gln)
|
|
|
|
NM_000138.5(FBN1):c.733C>T (p.Gln245Ter)
|
rs1555401667
|
|
|
NM_000138.5(FBN1):c.7341G>C (p.Glu2447Asp)
|
|
|
|
NM_000138.5(FBN1):c.7365C>G (p.Cys2455Trp)
|
rs1555394408
|
|
|
NM_000138.5(FBN1):c.737-17_740del
|
rs1597591735
|
|
|
NM_000138.5(FBN1):c.7371dup (p.Ile2458fs)
|
rs1555394407
|
|
|
NM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr)
|
rs1555394406
|
|
|
NM_000138.5(FBN1):c.7376G>T (p.Cys2459Phe)
|
rs1555394406
|
|
|
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys)
|
rs754047254
|
|
|
NM_000138.5(FBN1):c.7399del (p.Gln2467fs)
|
rs2042971434
|
|
|
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg)
|
rs1085308004
|
|
|
NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg)
|
rs1555394399
|
|
|
NM_000138.5(FBN1):c.7409G>A (p.Cys2470Tyr)
|
rs1555394398
|
|
|
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe)
|
rs1555394398
|
|
|
NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp)
|
rs1555394397
|
|
|
NM_000138.5(FBN1):c.7412C>T (p.Pro2471Leu)
|
rs193922233
|
|
|
NM_000138.5(FBN1):c.7418G>A (p.Gly2473Asp)
|
rs2042971166
|
|
|
NM_000138.5(FBN1):c.7421A>G (p.Tyr2474Cys)
|
rs869025415
|
|
|
NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg)
|
rs1555394391
|
|
|
NM_000138.5(FBN1):c.7447T>G (p.Cys2483Gly)
|
|
|
|
NM_000138.5(FBN1):c.7453+1G>T
|
rs397515851
|
|
|
NM_000138.5(FBN1):c.7453+2T>G
|
|
|
|
NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly)
|
rs1085307921
|
|
|
NM_000138.5(FBN1):c.7459G>T (p.Asp2487Tyr)
|
|
|
|
NM_000138.5(FBN1):c.7460A>G (p.Asp2487Gly)
|
|
|
|
NM_000138.5(FBN1):c.7463A>G (p.Glu2488Gly)
|
|
|
|
NM_000138.5(FBN1):c.7465T>A (p.Cys2489Ser)
|
rs1057520728
|
|
|
NM_000138.5(FBN1):c.7465T>G (p.Cys2489Gly)
|
rs1057520728
|
|
|
NM_000138.5(FBN1):c.7486T>A (p.Cys2496Ser)
|
rs1555394246
|
|
|
NM_000138.5(FBN1):c.7487G>T (p.Cys2496Phe)
|
rs1555394245
|
|
|
NM_000138.5(FBN1):c.748T>C (p.Cys250Arg)
|
|
|
|
NM_000138.5(FBN1):c.7496T>C (p.Leu2499Pro)
|
|
|
|
NM_000138.5(FBN1):c.7497_7498del (p.Cys2500_Val2501insTer)
|
rs397515852
|
|
|
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser)
|
rs363810
|
|
|
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)
|
rs1555394243
|
|
|
NM_000138.5(FBN1):c.7525T>G (p.Cys2509Gly)
|
rs1060501055
|
|
|
NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg)
|
rs794728272
|
|
|
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr)
|
rs1555394238
|
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
|
NM_000138.5(FBN1):c.7541G>A (p.Gly2514Glu)
|
|
|
|
NM_000138.5(FBN1):c.7566C>A (p.Cys2522Ter)
|
rs1555394235
|
|
|
NM_000138.5(FBN1):c.7570+2T>G
|
|
|
|
NM_000138.5(FBN1):c.7571-1G>A
|
rs1566891706
|
|
|
NM_000138.5(FBN1):c.7574del (p.Asn2525fs)
|
rs1555394220
|
|
|
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser)
|
rs794728336
|
|
|
NM_000138.5(FBN1):c.7577del (p.Asn2526fs)
|
rs1555394218
|
|
|
NM_000138.5(FBN1):c.7580A>C (p.Glu2527Ala)
|
rs397515853
|
|
|
NM_000138.5(FBN1):c.7596del (p.Asn2533fs)
|
|
|
|
NM_000138.5(FBN1):c.7603T>C (p.Cys2535Arg)
|
rs1555394212
|
|
|
NM_000138.5(FBN1):c.7603T>G (p.Cys2535Gly)
|
|
|
|
NM_000138.5(FBN1):c.7604_7605delinsTG (p.Cys2535Leu)
|
|
|
|
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)
|
rs397515854
|
|
|
NM_000138.5(FBN1):c.7608dup (p.Ser2537fs)
|
rs1555394206
|
|
|
NM_000138.5(FBN1):c.7622G>A (p.Cys2541Tyr)
|
|
|
|
NM_000138.5(FBN1):c.762del (p.Leu256fs)
|
rs1064793559
|
|
|
NM_000138.5(FBN1):c.7643del (p.Phe2548fs)
|
rs1555394197
|
|
|
NM_000138.5(FBN1):c.7648T>A (p.Cys2550Ser)
|
rs1566891675
|
|
|
NM_000138.5(FBN1):c.7654T>C (p.Cys2552Arg)
|
rs1566891668
|
|
|
NM_000138.5(FBN1):c.7655G>T (p.Cys2552Phe)
|
rs113334360
|
|
|
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg)
|
rs1566891655
|
|
|
NM_000138.5(FBN1):c.7678del (p.Gln2560fs)
|
rs193922235
|
|
|
NM_000138.5(FBN1):c.7693del (p.Cys2565fs)
|
rs2141221743
|
|
|
NM_000138.5(FBN1):c.7699+1G>A
|
rs1555394189
|
|
|
NM_000138.5(FBN1):c.7699+5G>A
|
rs1555394187
|
|
|
NM_000138.5(FBN1):c.7706A>C (p.Asp2569Ala)
|
|
|
|
NM_000138.5(FBN1):c.7706A>G (p.Asp2569Gly)
|
rs2141220859
|
|
|
NM_000138.5(FBN1):c.7710_7712del (p.Glu2570_Cys2571delinsAsp)
|
|
|
|
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr)
|
rs1555394153
|
|
|
NM_000138.5(FBN1):c.7712G>T (p.Cys2571Phe)
|
rs1555394153
|
|
|
NM_000138.5(FBN1):c.7713_7730del (p.Glu2572_Cys2577del)
|
rs2141220791
|
|
|
NM_000138.5(FBN1):c.7719del (p.Asn2574fs)
|
rs1555394152
|
|
|
NM_000138.5(FBN1):c.7735del (p.His2579fs)
|
rs1566891454
|
|
|
NM_000138.5(FBN1):c.7742G>A (p.Cys2581Tyr)
|
rs1555394149
|
|
|
NM_000138.5(FBN1):c.7746G>A (p.Gln2582=)
|
rs1555394148
|
|
|
NM_000138.5(FBN1):c.7765A>G (p.Arg2589Gly)
|
rs111413134
|
|
|
NM_000138.5(FBN1):c.7769G>A (p.Cys2590Tyr)
|
rs869025416
|
|
|
NM_000138.5(FBN1):c.776G>T (p.Gly259Val)
|
rs751169871
|
|
|
NM_000138.5(FBN1):c.7770C>G (p.Cys2590Trp)
|
rs1064796667
|
|
|
NM_000138.5(FBN1):c.7776_7819+37delinsTAGCT
|
rs2141220506
|
|
|
NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys)
|
rs1566891404
|
|
|
NM_000138.5(FBN1):c.7800C>G (p.Tyr2600Ter)
|
rs1404133653
|
|
|
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)
|
rs193922236
|
|
|
NM_000138.5(FBN1):c.7817T>A (p.Val2606Asp)
|
rs2141220600
|
|
|
NM_000138.5(FBN1):c.7819+1G>A
|
rs112907302
|
|
|
NM_000138.5(FBN1):c.7819+3A>C
|
rs1555394135
|
|
|
NM_000138.5(FBN1):c.7819+5G>A
|
rs2141220566
|
|
|
NM_000138.5(FBN1):c.7819G>A (p.Asp2607Asn)
|
rs1597512576
|
|
|
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)
|
rs111984349
|
|
|
NM_000138.5(FBN1):c.7829A>T (p.Glu2610Val)
|
rs1555393889
|
|
|
NM_000138.5(FBN1):c.7850G>A (p.Cys2617Tyr)
|
rs1555393886
|
|
|
NM_000138.5(FBN1):c.7864T>A (p.Cys2622Ser)
|
rs1555393882
|
|
|
NM_000138.5(FBN1):c.7864T>C (p.Cys2622Arg)
|
rs1555393882
|
|
|
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser)
|
rs113935744
|
|
|
NM_000138.5(FBN1):c.7877T>A (p.Leu2626Gln)
|
rs794728338
|
|
|
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg)
|
rs193922239
|
|
|
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg)
|
rs193922239
|
|
|
NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu)
|
rs1555393875
|
|
|
NM_000138.5(FBN1):c.7880G>C (p.Gly2627Ala)
|
rs1555393875
|
|
|
NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr)
|
rs111856492
|
|
|
NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe)
|
rs111856492
|
|
|
NM_000138.5(FBN1):c.7897T>G (p.Cys2633Gly)
|
rs1555393871
|
|
|
NM_000138.5(FBN1):c.7898G>C (p.Cys2633Ser)
|
rs193922240
|
|
|
NM_000138.5(FBN1):c.7921C>T (p.Gln2641Ter)
|
rs1555393866
|
|
|
NM_000138.5(FBN1):c.7931_7937del (p.Gly2644fs)
|
rs1555393862
|
|
|
NM_000138.5(FBN1):c.7936T>C (p.Cys2646Arg)
|
rs1555393863
|
|
|
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr)
|
rs397515859
|
|
|
NM_000138.5(FBN1):c.7975T>G (p.Cys2659Gly)
|
rs1555393847
|
|
|
NM_000138.5(FBN1):c.7976_7977delinsTT (p.Cys2659Phe)
|
|
|
|
NM_000138.5(FBN1):c.7982A>G (p.Tyr2661Cys)
|
rs112196241
|
|
|
NM_000138.5(FBN1):c.7987_8004del (p.Cys2663_Gly2668del)
|
rs1597509607
|
|
|
NM_000138.5(FBN1):c.799_805del (p.Gly267fs)
|
rs1060501100
|
|
|
NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys)
|
rs1057521100
|
|
|
NM_000138.5(FBN1):c.8009A>G (p.Tyr2670Cys)
|
rs794728339
|
|
|
NM_000138.5(FBN1):c.8012T>C (p.Leu2671Pro)
|
rs2141214610
|
|
|
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly)
|
rs1555393833
|
|
|
NM_000138.5(FBN1):c.8015G>A (p.Cys2672Tyr)
|
rs1555393831
|
|
|
NM_000138.5(FBN1):c.8015G>C (p.Cys2672Ser)
|
rs1555393831
|
|
|
NM_000138.5(FBN1):c.8015G>T (p.Cys2672Phe)
|
rs1555393831
|
|
|
NM_000138.5(FBN1):c.8020T>C (p.Cys2674Arg)
|
rs1060501014
|
|
|
NM_000138.5(FBN1):c.8029G>T (p.Gly2677Cys)
|
|
|
|
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)
|
rs794728283
|
|
|
NM_000138.5(FBN1):c.8042T>G (p.Ile2681Arg)
|
rs1555393825
|
|
|
NM_000138.5(FBN1):c.8051+2T>A
|
rs2141214505
|
|
|
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg)
|
rs1555393666
|
|
|
NM_000138.5(FBN1):c.8057G>A (p.Cys2686Tyr)
|
|
|
|
NM_000138.5(FBN1):c.8087del (p.Asn2696fs)
|
rs1060501065
|
|
|
NM_000138.5(FBN1):c.8090_8099del (p.Pro2697fs)
|
|
|
|
NM_000138.5(FBN1):c.811T>A (p.Cys271Ser)
|
|
|
|
NM_000138.5(FBN1):c.811T>G (p.Cys271Gly)
|
rs1060501019
|
|
|
NM_000138.5(FBN1):c.8143_8144insCTCCCCAGAGGCT (p.Cys2715fs)
|
|
|
|
NM_000138.5(FBN1):c.8147dup (p.Tyr2716Ter)
|
rs1555393657
|
|
|
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)
|
rs112642323
|
|
|
NM_000138.5(FBN1):c.8148_8149insA (p.Glu2717fs)
|
rs1555393653
|
|
|
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter)
|
rs187553035
|
|
|
NM_000138.5(FBN1):c.8176del (p.Arg2726fs)
|
|
|
|
NM_000138.5(FBN1):c.8203del (p.Glu2735fs)
|
rs193922241
|
|
|
NM_000138.5(FBN1):c.8226+1G>A
|
rs398122833
|
|
|
NM_000138.5(FBN1):c.8252_8253dup (p.Ser2752Ter)
|
rs1555393565
|
|
|
NM_000138.5(FBN1):c.8329del (p.Ile2777fs)
|
rs1566888689
|
|
|
NM_000138.5(FBN1):c.8333T>G (p.Leu2778Arg)
|
rs1555393553
|
|
|
NM_000138.5(FBN1):c.8339T>C (p.Leu2780Pro)
|
rs869025417
|
|
|
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His)
|
rs113722038
|
|
|
NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys)
|
rs397515863
|
|
|
NM_000138.5(FBN1):c.8405G>T (p.Gly2802Val)
|
|
|
|
NM_000138.5(FBN1):c.8412_8417del (p.Lys2805_Ile2806del)
|
rs193922246
|
|
|
NM_000138.5(FBN1):c.8416dup (p.Ile2806fs)
|
rs1555393538
|
|
|
NM_000138.5(FBN1):c.8444T>A (p.Leu2815His)
|
rs113170280
|
|
|
NM_000138.5(FBN1):c.8447A>C (p.His2816Pro)
|
rs1555393532
|
|
|
NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del)
|
rs727504454
|
|
|
NM_000138.5(FBN1):c.8479del (p.Tyr2827fs)
|
rs1555393525
|
|
|
NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter)
|
rs397515864
|
|
|
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter)
|
rs886038795
|
|
|
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)
|
rs1064794130
|
|
|
NM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter)
|
rs1555393510
|
|
|
NM_000138.5(FBN1):c.8544dup (p.Tyr2849fs)
|
rs794728323
|
|
|
NM_000138.5(FBN1):c.8547T>G (p.Tyr2849Ter)
|
|
|
|
NM_000138.5(FBN1):c.8561del (p.Leu2854fs)
|
rs1060501033
|
|
|
NM_000138.5(FBN1):c.8591T>C (p.Met2864Thr)
|
rs1060501028
|
|
|
NM_000138.5(FBN1):c.8596dup (p.Ile2866fs)
|
rs1597506547
|
|
|
NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro)
|
rs397515865
|
|
|
NM_000138.5(FBN1):c.8605_8606del (p.Leu2869fs)
|
rs397515866
|
|
|
NM_000138.5(FBN1):c.863-2A>G
|
|
|
|
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter)
|
rs1232880706
|
|
|
NM_000138.5(FBN1):c.895T>C (p.Cys299Arg)
|
rs1597587564
|
|
|
NM_000138.5(FBN1):c.896G>A (p.Cys299Tyr)
|
|
|
|
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr)
|
rs1555401011
|
|
|
NM_000138.5(FBN1):c.938G>T (p.Cys313Phe)
|
rs2141343367
|
|
|
NM_000138.5(FBN1):c.943T>C (p.Cys315Arg)
|
|
|
|
NM_000138.5(FBN1):c.959dup (p.Tyr320Ter)
|
rs1555401005
|
|
|
NM_000138.5(FBN1):c.961_962del (p.Thr321fs)
|
rs1555401002
|
|
|
NM_000138.5(FBN1):c.979A>G (p.Arg327Gly)
|
rs1597587453
|
|
|
NM_000138.5(FBN1):c.988+1G>A
|
|
|
|
NM_000138.5(FBN1):c.997_1032del (p.Pro333_Arg344del)
|
rs2043846857
|
|
|
NM_000138.5:c.(7204+1_7205-1)_(7819+1_7820-1)del
|
|
|
|
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)
|
rs1057519044
|
|
|
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)
|
rs121913478
|
|
|
NM_000141.5(FGFR2):c.1477G>T (p.Gly493Trp)
|
rs1554917471
|
|
|
NM_000141.5(FGFR2):c.1600G>A (p.Glu534Lys)
|
|
|
|
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)
|
rs121918506
|
|
|
NM_000141.5(FGFR2):c.2021C>T (p.Ala674Val)
|
rs1554907337
|
|
|
NM_000142.5(FGFR3):c.2419T>C (p.Ter807Arg)
|
rs121913101
|
|
|
NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp)
|
rs121913103
|
|
|
NM_000179.3(MSH6):c.1100A>G (p.His367Arg)
|
rs1553412495
|
|
|
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)
|
rs587779204
|
|
|
NM_000179.3(MSH6):c.1128_1132del (p.Arg378_Arg379insTer)
|
rs1114167801
|
|
|
NM_000179.3(MSH6):c.1189dup (p.Tyr397fs)
|
rs1553412609
|
|
|
NM_000179.3(MSH6):c.1237T>C (p.Trp413Arg)
|
rs2104330278
|
|
|
NM_000179.3(MSH6):c.1248del (p.Lys417fs)
|
|
|
|
NM_000179.3(MSH6):c.1252T>C (p.Ser418Pro)
|
rs1251033858
|
|
|
NM_000179.3(MSH6):c.1254_1255del (p.Gln419fs)
|
rs1553412696
|
|
|
NM_000179.3(MSH6):c.1255_1268del (p.Gln419fs)
|
rs876661251
|
|
|
NM_000179.3(MSH6):c.125_132dup (p.Gly45fs)
|
rs1553408245
|
|
|
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)
|
rs750528093
|
|
|
NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu)
|
rs863224614
|
|
|
NM_000179.3(MSH6):c.1304T>C (p.Leu435Pro)
|
rs63751405
|
|
|
NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs)
|
rs878853702
|
|
|
NM_000179.3(MSH6):c.1352del (p.Phe451fs)
|
rs869312769
|
|
|
NM_000179.3(MSH6):c.1444C>G (p.Arg482Gly)
|
rs63750909
|
|
|
NM_000179.3(MSH6):c.1445G>C (p.Arg482Pro)
|
rs773226008
|
|
|
NM_000179.3(MSH6):c.1453C>T (p.Gln485Ter)
|
rs1114167803
|
|
|
NM_000179.3(MSH6):c.1531A>G (p.Arg511Gly)
|
|
|
|
NM_000179.3(MSH6):c.1559G>A (p.Gly520Asp)
|
rs1669344619
|
|
|
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs)
|
rs863224829
|
|
|
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del)
|
rs1064793600
|
|
|
NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg)
|
rs587779778
|
|
|
NM_000179.3(MSH6):c.1630del (p.Glu544fs)
|
|
|
|
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs)
|
rs267608064
|
|
|
NM_000179.3(MSH6):c.1670G>A (p.Gly557Asp)
|
rs1553413050
|
|
|
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)
|
rs864622153
|
|
|
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)
|
rs587779220
|
|
|
NM_000179.3(MSH6):c.1767del (p.Pro591fs)
|
rs1114167765
|
|
|
NM_000179.3(MSH6):c.1777C>T (p.Gln593Ter)
|
|
|
|
NM_000179.3(MSH6):c.1796_1797del (p.Gly599fs)
|
rs2104368213
|
|
|
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs)
|
rs1060502886
|
|
|
NM_000179.3(MSH6):c.1866dup (p.Pro623fs)
|
rs2104372581
|
|
|
NM_000179.3(MSH6):c.1871dup (p.Ser625fs)
|
|
|
|
NM_000179.3(MSH6):c.1876C>T (p.Gln626Ter)
|
rs1553413253
|
|
|
NM_000179.3(MSH6):c.1910T>C (p.Leu637Pro)
|
rs1553413288
|
|
|
NM_000179.3(MSH6):c.1933del (p.Glu645fs)
|
rs1558663559
|
|
|
NM_000179.3(MSH6):c.1951_1952dup (p.Gly652fs)
|
rs2104378465
|
|
|
NM_000179.3(MSH6):c.1997_1998del (p.Glu665_Ser666insTer)
|
rs1572725235
|
|
|
NM_000179.3(MSH6):c.1998dup (p.Asp667Ter)
|
|
|
|
NM_000179.3(MSH6):c.1_260del (p.Met1fs)
|
|
|
|
NM_000179.3(MSH6):c.2080T>C (p.Cys694Arg)
|
rs587779228
|
|
|
NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter)
|
rs63750832
|
|
|
NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser)
|
rs587779231
|
|
|
NM_000179.3(MSH6):c.2124_2126dup (p.Tyr709Ter)
|
rs1558664335
|
|
|
NM_000179.3(MSH6):c.2139_2140del (p.Asp713_Ser714insTer)
|
|
|
|
NM_000179.3(MSH6):c.215_258del (p.Leu72fs)
|
rs1553408380
|
|
|
NM_000179.3(MSH6):c.2194_2197del (p.Arg732fs)
|
rs1669432834
|
|
|
NM_000179.3(MSH6):c.2222dup (p.Asn741fs)
|
|
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
|
NM_000179.3(MSH6):c.2234T>A (p.Ile745Asn)
|
rs1558664787
|
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
|
NM_000179.3(MSH6):c.2308G>T (p.Gly770Cys)
|
|
|
|
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)
|
rs63750138
|
|
|
NM_000179.3(MSH6):c.2318T>C (p.Leu773Pro)
|
rs863224623
|
|
|
NM_000179.3(MSH6):c.2410_2411insT (p.Lys804fs)
|
|
|
|
NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter)
|
rs587779923
|
|
|
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter)
|
rs746306598
|
|
|
NM_000179.3(MSH6):c.2534_2538del (p.Met844_Tyr845insTer)
|
|
|
|
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter)
|
rs587779241
|
|
|
NM_000179.3(MSH6):c.2551_2552insTTATA (p.Ser851fs)
|
|
|
|
NM_000179.3(MSH6):c.260+1G>C
|
rs1553408467
|
|
|
NM_000179.3(MSH6):c.260+2T>A
|
rs1553408469
|
|
|
NM_000179.3(MSH6):c.260+2T>C
|
rs1553408469
|
|
|
NM_000179.3(MSH6):c.260+2T>G
|
|
|
|
NM_000179.3(MSH6):c.260+2_260+3delinsAG
|
rs1064794075
|
|
|
NM_000179.3(MSH6):c.261-2A>C
|
|
|
|
NM_000179.3(MSH6):c.261-2A>T
|
|
|
|
NM_000179.3(MSH6):c.2611del (p.Ile871fs)
|
|
|
|
NM_000179.3(MSH6):c.2692_2693del (p.Asn897_Pro898insTer)
|
rs1553414029
|
|
|
NM_000179.3(MSH6):c.2759del (p.Lys920fs)
|
rs1114167794
|
|
|
NM_000179.3(MSH6):c.2806del (p.Asp936fs)
|
|
|
|
NM_000179.3(MSH6):c.2906A>C (p.Tyr969Ser)
|
rs63749919
|
|
|
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys)
|
rs63749919
|
|
|
NM_000179.3(MSH6):c.2927G>A (p.Arg976His)
|
rs63751113
|
|
|
NM_000179.3(MSH6):c.2943dup (p.Pro982fs)
|
rs2104432135
|
|
|
NM_000179.3(MSH6):c.2974G>T (p.Glu992Ter)
|
rs774755404
|
|
|
NM_000179.3(MSH6):c.2977G>T (p.Glu993Ter)
|
|
|
|
NM_000179.3(MSH6):c.2977del (p.Glu993fs)
|
|
|
|
NM_000179.3(MSH6):c.2982C>A (p.Tyr994Ter)
|
|
|
|
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)
|
rs63750258
|
|
|
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)
|
rs63750563
|
|
|
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter)
|
rs1553414395
|
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
|
NM_000179.3(MSH6):c.305del (p.Gly102fs)
|
|
|
|
NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter)
|
rs1553410230
|
|
|
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs)
|
rs1553414519
|
|
|
NM_000179.3(MSH6):c.313del (p.Trp105fs)
|
rs1572708636
|
|
|
NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro)
|
rs587779254
|
|
|
NM_000179.3(MSH6):c.3172+1G>A
|
rs587779255
|
|
|
NM_000179.3(MSH6):c.3172+1G>C
|
rs587779255
|
|
|
NM_000179.3(MSH6):c.3172+1G>T
|
rs587779255
|
|
|
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His)
|
rs863225404
|
|
|
NM_000179.3(MSH6):c.3173-1G>A
|
rs397515875
|
|
|
NM_000179.3(MSH6):c.3173-1G>C
|
rs397515875
|
|
|
NM_000179.3(MSH6):c.3173-1_3173del
|
rs587779256
|
|
|
NM_000179.3(MSH6):c.3173-1del
|
|
|
|
NM_000179.3(MSH6):c.3173-2A>C
|
rs1553331242
|
|
|
NM_000179.3(MSH6):c.3185G>A (p.Cys1062Tyr)
|
rs1558386797
|
|
|
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)
|
rs1060502901
|
|
|
NM_000179.3(MSH6):c.3195_3199del (p.Asn1065fs)
|
rs1384780420
|
|
|
NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs)
|
rs1057517552
|
|
|
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs)
|
rs863225406
|
|
|
NM_000179.3(MSH6):c.3258_3261dup (p.Phe1088fs)
|
|
|
|
NM_000179.3(MSH6):c.3261_3262del (p.Phe1088fs)
|
rs1669747095
|
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
|
NM_000179.3(MSH6):c.3365_3366insTT (p.Gln1122fs)
|
|
|
|
NM_000179.3(MSH6):c.3371dup (p.Asn1124fs)
|
rs1553331659
|
|
|
NM_000179.3(MSH6):c.3408T>G (p.Asn1136Lys)
|
|
|
|
NM_000179.3(MSH6):c.3414_3416del (p.Gly1139del)
|
rs587781544
|
|
|
NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser)
|
rs63751063
|
|
|
NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp)
|
rs1316409501
|
|
|
NM_000179.3(MSH6):c.3417C>T (p.Gly1139=)
|
rs876660283
|
|
|
NM_000179.3(MSH6):c.3430_3431insAA (p.Met1144fs)
|
|
|
|
NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg)
|
rs864622607
|
|
|
NM_000179.3(MSH6):c.3438+1G>A
|
rs267608096
|
|
|
NM_000179.3(MSH6):c.3438+1G>C
|
|
|
|
NM_000179.3(MSH6):c.3438+1G>T
|
|
|
|
NM_000179.3(MSH6):c.3438+2T>A
|
|
|
|
NM_000179.3(MSH6):c.3438+2T>C
|
rs1033749344
|
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
|
NM_000179.3(MSH6):c.3439-2A>G
|
rs267608098
|
|
|
NM_000179.3(MSH6):c.3455_3487del (p.Val1152_Ala1162del)
|
|
|
|
NM_000179.3(MSH6):c.3463C>T (p.Gln1155Ter)
|
rs1553332166
|
|
|
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser)
|
rs587779264
|
|
|
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys)
|
rs587779264
|
|
|
NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp)
|
rs752212361
|
|
|
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)
|
rs398123231
|
|
|
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)
|
rs376799914
|
|
|
NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp)
|
rs587779935
|
|
|
NM_000179.3(MSH6):c.3493T>C (p.Cys1165Arg)
|
rs1669872142
|
|
|
NM_000179.3(MSH6):c.3522dup (p.Thr1175fs)
|
|
|
|
NM_000179.3(MSH6):c.3554_3556+2del
|
rs2104510085
|
|
|
NM_000179.3(MSH6):c.3556+1G>A
|
rs1060502926
|
|
|
NM_000179.3(MSH6):c.3556+1G>T
|
rs1060502926
|
|
|
NM_000179.3(MSH6):c.3556+1del
|
rs1064793489
|
|
|
NM_000179.3(MSH6):c.3556+2T>G
|
|
|
|
NM_000179.3(MSH6):c.3557-1G>A
|
|
|
|
NM_000179.3(MSH6):c.3557-1G>C
|
rs1114167723
|
|
|
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)
|
rs63751328
|
|
|
NM_000179.3(MSH6):c.3592G>C (p.Ala1198Pro)
|
|
|
|
NM_000179.3(MSH6):c.3619_3620del (p.His1207fs)
|
rs1572741984
|
|
|
NM_000179.3(MSH6):c.3626T>C (p.Leu1209Pro)
|
rs1114167688
|
|
|
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro)
|
rs864622041
|
|
|
NM_000179.3(MSH6):c.3640G>T (p.Glu1214Ter)
|
|
|
|
NM_000179.3(MSH6):c.3644_3646+5del
|
|
|
|
NM_000179.3(MSH6):c.3645_3646+3delinsCGTT
|
|
|
|
NM_000179.3(MSH6):c.3646+1G>A
|
rs1553332772
|
|
|
NM_000179.3(MSH6):c.3646+1G>T
|
rs1553332772
|
|
|
NM_000179.3(MSH6):c.3646+1dup
|
rs1553332768
|
|
|
NM_000179.3(MSH6):c.3646+2T>C
|
rs1553332776
|
|
|
NM_000179.3(MSH6):c.3646+2T>G
|
|
|
|
NM_000179.3(MSH6):c.3646+2_3646+3insCT
|
rs1269788253
|
|
|
NM_000179.3(MSH6):c.3646G>C (p.Gly1216Arg)
|
rs1114167690
|
|
|
NM_000179.3(MSH6):c.3646G>T (p.Gly1216Ter)
|
|
|
|
NM_000179.3(MSH6):c.3646_3646+3del
|
rs267608106
|
|
|
NM_000179.3(MSH6):c.3647-1G>A
|
rs587779279
|
|
|
NM_000179.3(MSH6):c.3647-1G>C
|
rs587779279
|
|
|
NM_000179.3(MSH6):c.3647-2A>C
|
rs267608111
|
|
|
NM_000179.3(MSH6):c.3647-2A>G
|
|
|
|
NM_000179.3(MSH6):c.3647-6_3647-1del
|
rs267608112
|
|
|
NM_000179.3(MSH6):c.3656C>T (p.Thr1219Ile)
|
rs63750949
|
|
|
NM_000179.3(MSH6):c.3698_3702dup (p.Leu1235fs)
|
rs193922343
|
|
|
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs)
|
rs193922343
|
|
|
NM_000179.3(MSH6):c.3722G>A (p.Cys1241Tyr)
|
rs1021631442
|
|
|
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)
|
rs63749942
|
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
|
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del)
|
rs876658650
|
|
|
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)
|
rs863225412
|
|
|
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)
|
rs876661222
|
|
|
NM_000179.3(MSH6):c.3757_3767del (p.Val1253fs)
|
rs1553333093
|
|
|
NM_000179.3(MSH6):c.3798_3801+9del
|
rs1553333168
|
|
|
NM_000179.3(MSH6):c.3801+1G>A
|
|
|
|
NM_000179.3(MSH6):c.3801+1_3801+2insGTAT
|
rs2104547230
|
|
|
NM_000179.3(MSH6):c.3801+1_3801+5del
|
rs1553333175
|
|
|
NM_000179.3(MSH6):c.3801+1del
|
rs1553333185
|
|
|
NM_000179.3(MSH6):c.3801+2T>C
|
rs1558392617
|
|
|
NM_000179.3(MSH6):c.3801+2T>G
|
rs1558392617
|
|
|
NM_000179.3(MSH6):c.3802-14_3809del
|
|
|
|
NM_000179.3(MSH6):c.3802-15_3802delinsAAGCTAATAGCA
|
|
|
|
NM_000179.3(MSH6):c.3802-1G>C
|
rs1572746025
|
|
|
NM_000179.3(MSH6):c.3802-2A>G
|
|
|
|
NM_000179.3(MSH6):c.3805dup (p.Cys1269fs)
|
|
|
|
NM_000179.3(MSH6):c.3814_3827dup (p.Asp1277fs)
|
rs1558393070
|
|
|
NM_000179.3(MSH6):c.3815_3830dup (p.Asp1277delinsGluLysTer)
|
|
|
|
NM_000179.3(MSH6):c.3820G>T (p.Glu1274Ter)
|
rs587779294
|
|
|
NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs)
|
rs1572746382
|
|
|
NM_000179.3(MSH6):c.3837_3843del (p.Ser1279fs)
|
rs1553333370
|
|
|
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)
|
rs63751319
|
|
|
NM_000179.3(MSH6):c.3850_3860del (p.Ile1283_Thr1284insTer)
|
|
|
|
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)
|
rs1553333421
|
|
|
NM_000179.3(MSH6):c.3856_3872dup (p.Lys1291fs)
|
|
|
|
NM_000179.3(MSH6):c.3865_3887dup (p.Lys1296fs)
|
|
|
|
NM_000179.3(MSH6):c.3883_3901dup (p.Asn1301delinsThrTer)
|
|
|
|
NM_000179.3(MSH6):c.3918_3919delinsAGAT (p.Asn1307fs)
|
|
|
|
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)
|
rs1572747278
|
|
|
NM_000179.3(MSH6):c.3922_3938dup (p.Gln1314fs)
|
rs1670123011
|
|
|
NM_000179.3(MSH6):c.3922_3944dup (p.Lys1315fs)
|
rs1553333599
|
|
|
NM_000179.3(MSH6):c.3922_3953dup (p.Arg1318fs)
|
|
|
|
NM_000179.3(MSH6):c.3930_3970dup (p.Glu1324fs)
|
rs878853742
|
|
|
NM_000179.3(MSH6):c.3931G>T (p.Glu1311Ter)
|
|
|
|
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs)
|
rs730881830
|
|
|
NM_000179.3(MSH6):c.3946G>C (p.Gly1316Arg)
|
rs773675555
|
|
|
NM_000179.3(MSH6):c.394C>T (p.Gln132Ter)
|
rs587782101
|
|
|
NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)
|
rs1572747685
|
|
|
NM_000179.3(MSH6):c.3954_3966dup (p.Phe1323fs)
|
|
|
|
NM_000179.3(MSH6):c.3955_3974dup (p.Met1326fs)
|
|
|
|
NM_000179.3(MSH6):c.3958_3986dup (p.Ser1329_Leu1330insGlnGluAsnLeuArgArgTer)
|
|
|
|
NM_000179.3(MSH6):c.3971_3983dup (p.Ser1329fs)
|
|
|
|
NM_000179.3(MSH6):c.3980_3983del (p.Asn1327fs)
|
|
|
|
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)
|
rs1553333738
|
|
|
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)
|
rs1553333753
|
|
|
NM_000179.3(MSH6):c.3G>T (p.Met1Ile)
|
rs876660095
|
|
|
NM_000179.3(MSH6):c.4001+1G>A
|
rs1114167729
|
|
|
NM_000179.3(MSH6):c.4001+1G>C
|
rs1114167729
|
|
|
NM_000179.3(MSH6):c.4001+2T>C
|
rs267608131
|
|
|
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)
|
rs267608122
|
|
|
NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro)
|
rs267608122
|
|
|
NM_000179.3(MSH6):c.4001G>T (p.Arg1334Leu)
|
|
|
|
NM_000179.3(MSH6):c.4002-2A>G
|
rs878853745
|
|
|
NM_000179.3(MSH6):c.443dup (p.Leu148fs)
|
rs1060502875
|
|
|
NM_000179.3(MSH6):c.457+1G>A
|
|
|
|
NM_000179.3(MSH6):c.457+1del
|
rs876661125
|
|
|
NM_000179.3(MSH6):c.457+2T>G
|
|
|
|
NM_000179.3(MSH6):c.457G>A (p.Gly153Ser)
|
rs1060502885
|
|
|
NM_000179.3(MSH6):c.457G>C (p.Gly153Arg)
|
rs1060502885
|
|
|
NM_000179.3(MSH6):c.458-1G>A
|
rs267608035
|
|
|
NM_000179.3(MSH6):c.458-1G>T
|
rs267608035
|
|
|
NM_000179.3(MSH6):c.458-2A>C
|
|
|
|
NM_000179.3(MSH6):c.55del (p.Asp19fs)
|
rs1553408127
|
|
|
NM_000179.3(MSH6):c.578del (p.Leu193fs)
|
rs587782281
|
|
|
NM_000179.3(MSH6):c.616_627+37delinsC
|
|
|
|
NM_000179.3(MSH6):c.619G>T (p.Glu207Ter)
|
rs1322095633
|
|
|
NM_000179.3(MSH6):c.627+1G>A
|
rs1572716545
|
|
|
NM_000179.3(MSH6):c.627+1dup
|
rs2104241415
|
|
|
NM_000179.3(MSH6):c.627+2_627+11del
|
|
|
|
NM_000179.3(MSH6):c.628-2A>C
|
|
|
|
NM_000179.3(MSH6):c.675_676dup (p.Glu226fs)
|
rs2104290462
|
|
|
NM_000179.3(MSH6):c.691del (p.Val231fs)
|
|
|
|
NM_000179.3(MSH6):c.741dup (p.Arg248fs)
|
rs267608041
|
|
|
NM_000179.3(MSH6):c.742dup (p.Arg248fs)
|
rs1572720192
|
|
|
NM_000179.3(MSH6):c.843_844insAC (p.Val282fs)
|
|
|
|
NM_000179.3(MSH6):c.908dup (p.Met303fs)
|
rs1057517551
|
|
|
NM_000179.3(MSH6):c.989C>A (p.Ser330Ter)
|
rs786202848
|
|
|
NM_000179.3(MSH6):c.997dup (p.Thr333fs)
|
|
|
|
NM_000179.3(MSH6):c.[3601C>G;3724C>A]
|
|
|
|
NM_000179.3:c.458_4083del
|
|
|
|
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)
|
rs552184470
|
|
|
NM_000180.4(GUCY2D):c.1341dup (p.Ser448fs)
|
|
|
|
NM_000180.4(GUCY2D):c.1378+1G>T
|
|
|
|
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
|
|
|
|
NM_000180.4(GUCY2D):c.1956+1G>A
|
|
|
|
NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter)
|
rs747951577
|
|
|
NM_000180.4(GUCY2D):c.2515_2522del (p.Thr839fs)
|
|
|
|
NM_000180.4(GUCY2D):c.3127del (p.Thr1043fs)
|
|
|
|
NM_000180.4(GUCY2D):c.856_876dup (p.Ser286_Leu292dup)
|
rs2151799690
|
|
|
NM_000222.3(KIT):c.1861G>A (p.Ala621Thr)
|
rs1560418178
|
|
|
NM_000222.3(KIT):c.2000T>G (p.Leu667Arg)
|
rs1560419312
|
|
|
NM_000222.3(KIT):c.2244_2253del (p.Ile748fs)
|
rs2109794937
|
|
|
NM_000222.3(KIT):c.590C>T (p.Ser197Leu)
|
rs2109674601
|
|
|
NM_000248.4(MITF):c.1A>G (p.Met1Val)
|
rs760273611
|
|
|
NM_000248.4(MITF):c.30T>G (p.Tyr10Ter)
|
|
|
|
NM_000248.4(MITF):c.31C>T (p.Gln11Ter)
|
|
|
|
NM_000249.3(MLH1):c.546-?_1731+?dup
|
|
|
|
NM_000249.3:c.(306+1_307-1)_(790+1_791-1)del
|
|
|
|
NM_000249.4(MLH1):c.-27C>A
|
rs587779001
|
|
|
NM_000249.4(MLH1):c.1011dup (p.Asn338fs)
|
rs63750677
|
|
|
NM_000249.4(MLH1):c.101A>C (p.Glu34Ala)
|
|
|
|
NM_000249.4(MLH1):c.1032del (p.Phe344fs)
|
rs1553648225
|
|
|
NM_000249.4(MLH1):c.1033_1038+13del
|
|
|
|
NM_000249.4(MLH1):c.1038+1G>C
|
rs267607816
|
|
|
NM_000249.4(MLH1):c.1038+1G>T
|
|
|
|
NM_000249.4(MLH1):c.1038+2T>C
|
|
|
|
NM_000249.4(MLH1):c.1038G>A (p.Gln346=)
|
rs63751715
|
|
|
NM_000249.4(MLH1):c.1039-1G>A
|
rs267607819
|
|
|
NM_000249.4(MLH1):c.1039-1G>C
|
rs267607819
|
|
|
NM_000249.4(MLH1):c.1039-1G>T
|
|
|
|
NM_000249.4(MLH1):c.1039-2A>C
|
rs267607815
|
|
|
NM_000249.4(MLH1):c.1039-2A>G
|
rs267607815
|
|
|
NM_000249.4(MLH1):c.1039-2A>T
|
rs267607815
|
|
|
NM_000249.4(MLH1):c.1040C>T (p.Thr347Ile)
|
|
|
|
NM_000249.4(MLH1):c.104T>G (p.Met35Arg)
|
rs63749906
|
|
|
NM_000249.4(MLH1):c.109G>A (p.Glu37Lys)
|
rs63751012
|
|
|
NM_000249.4(MLH1):c.109G>C (p.Glu37Gln)
|
rs63751012
|
|
|
NM_000249.4(MLH1):c.110A>G (p.Glu37Gly)
|
rs876658410
|
|
|
NM_000249.4(MLH1):c.112A>C (p.Asn38His)
|
rs63750580
|
|
|
NM_000249.4(MLH1):c.1139_1149del (p.Ala380fs)
|
rs2083404326
|
|
|
NM_000249.4(MLH1):c.114C>A (p.Asn38Lys)
|
rs267607706
|
|
|
NM_000249.4(MLH1):c.114C>G (p.Asn38Lys)
|
rs267607706
|
|
|
NM_000249.4(MLH1):c.116+1G>A
|
rs267607709
|
|
|
NM_000249.4(MLH1):c.116+1del
|
|
|
|
NM_000249.4(MLH1):c.1168del (p.Glu390fs)
|
|
|
|
NM_000249.4(MLH1):c.117-1G>A
|
rs587779950
|
|
|
NM_000249.4(MLH1):c.117-1G>C
|
|
|
|
NM_000249.4(MLH1):c.117-1G>T
|
rs587779950
|
|
|
NM_000249.4(MLH1):c.117-2A>G
|
rs267607712
|
|
|
NM_000249.4(MLH1):c.117-2A>T
|
|
|
|
NM_000249.4(MLH1):c.117-6T>A
|
rs2081158776
|
|
|
NM_000249.4(MLH1):c.117-7_121del
|
|
|
|
NM_000249.4(MLH1):c.1211del (p.Leu404fs)
|
|
|
|
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)
|
rs1057517541
|
|
|
NM_000249.4(MLH1):c.122A>G (p.Asp41Gly)
|
rs63751094
|
|
|
NM_000249.4(MLH1):c.122A>T (p.Asp41Val)
|
rs63751094
|
|
|
NM_000249.4(MLH1):c.1230_1232delinsTG (p.Ile411fs)
|
rs1575536219
|
|
|
NM_000249.4(MLH1):c.1255del (p.Ile419fs)
|
|
|
|
NM_000249.4(MLH1):c.1278_1279insTG (p.Gln427fs)
|
rs1559553492
|
|
|
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter)
|
rs63750443
|
|
|
NM_000249.4(MLH1):c.134_136del (p.Thr45del)
|
|
|
|
NM_000249.4(MLH1):c.1378G>T (p.Glu460Ter)
|
rs756843954
|
|
|
NM_000249.4(MLH1):c.1387G>T (p.Gly463Ter)
|
rs1559554339
|
|
|
NM_000249.4(MLH1):c.1409+1G>A
|
rs267607825
|
|
|
NM_000249.4(MLH1):c.1409+1_1409+6del
|
rs1057517617
|
|
|
NM_000249.4(MLH1):c.1409+2T>G
|
rs587778911
|
|
|
NM_000249.4(MLH1):c.1410-16_1420del
|
|
|
|
NM_000249.4(MLH1):c.1410-1G>A
|
|
|
|
NM_000249.4(MLH1):c.1410-2A>G
|
rs746536721
|
|
|
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC
|
rs1559558071
|
|
|
NM_000249.4(MLH1):c.143A>C (p.Gln48Pro)
|
rs587778914
|
|
|
NM_000249.4(MLH1):c.1451del (p.Asp484fs)
|
|
|
|
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs)
|
rs1553653084
|
|
|
NM_000249.4(MLH1):c.150_153del (p.Val51fs)
|
rs1064794348
|
|
|
NM_000249.4(MLH1):c.1528_1532delinsACTAGTTTG (p.Gln510fs)
|
rs2083718945
|
|
|
NM_000249.4(MLH1):c.152T>A (p.Val51Asp)
|
rs1553638767
|
|
|
NM_000249.4(MLH1):c.154A>T (p.Lys52Ter)
|
|
|
|
NM_000249.4(MLH1):c.1558+1G>A
|
rs267607832
|
|
|
NM_000249.4(MLH1):c.1558+1G>T
|
rs267607832
|
|
|
NM_000249.4(MLH1):c.1558+1del
|
|
|
|
NM_000249.4(MLH1):c.1558+1dup
|
rs1553653237
|
|
|
NM_000249.4(MLH1):c.1558+2T>A
|
rs267607831
|
|
|
NM_000249.4(MLH1):c.1558+2T>C
|
rs267607831
|
|
|
NM_000249.4(MLH1):c.1558+2T>G
|
rs267607831
|
|
|
NM_000249.4(MLH1):c.1559-1G>A
|
rs267607837
|
|
|
NM_000249.4(MLH1):c.1559-1G>C
|
rs267607837
|
|
|
NM_000249.4(MLH1):c.1559-2A>C
|
rs267607836
|
|
|
NM_000249.4(MLH1):c.156del (p.Glu53fs)
|
rs63750028
|
|
|
NM_000249.4(MLH1):c.1582_1583insGGTT (p.His528fs)
|
|
|
|
NM_000249.4(MLH1):c.1588_1590del (p.Phe530del)
|
rs587778930
|
|
|
NM_000249.4(MLH1):c.1589_1597del (p.Phe530_Gly532del)
|
|
|
|
NM_000249.4(MLH1):c.1597del (p.Cys533fs)
|
rs1559575107
|
|
|
NM_000249.4(MLH1):c.1612del (p.Trp538fs)
|
rs2084643841
|
|
|
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp)
|
rs267607843
|
|
|
NM_000249.4(MLH1):c.1616_1619del (p.Ala539fs)
|
rs2084645057
|
|
|
NM_000249.4(MLH1):c.1633dup (p.Thr545fs)
|
rs1553658104
|
|
|
NM_000249.4(MLH1):c.1646T>C (p.Leu549Pro)
|
rs63750289
|
|
|
NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro)
|
rs63750193
|
|
|
NM_000249.4(MLH1):c.1664T>C (p.Leu555Pro)
|
rs587778937
|
|
|
NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg)
|
rs587778937
|
|
|
NM_000249.4(MLH1):c.1667+1del
|
rs1553658246
|
|
|
NM_000249.4(MLH1):c.1667+2T>C
|
rs878853780
|
|
|
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)
|
rs63751596
|
|
|
NM_000249.4(MLH1):c.1668-1G>A
|
rs267607845
|
|
|
NM_000249.4(MLH1):c.1668-1G>T
|
rs267607845
|
|
|
NM_000249.4(MLH1):c.1668-3C>A
|
rs267607844
|
|
|
NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro)
|
rs63750059
|
|
|
NM_000249.4(MLH1):c.1691T>G (p.Leu564Arg)
|
|
|
|
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser)
|
rs587781796
|
|
|
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro)
|
rs63751608
|
|
|
NM_000249.4(MLH1):c.1731+1G>C
|
rs267607853
|
|
|
NM_000249.4(MLH1):c.1731+1G>T
|
rs267607853
|
|
|
NM_000249.4(MLH1):c.1731+2T>G
|
rs267607856
|
|
|
NM_000249.4(MLH1):c.1731+2dup
|
|
|
|
NM_000249.4(MLH1):c.1731+3A>T
|
rs267607851
|
|
|
NM_000249.4(MLH1):c.1731+5_1731+6delinsCC
|
rs2125958437
|
|
|
NM_000249.4(MLH1):c.1732-1G>A
|
rs267607854
|
|
|
NM_000249.4(MLH1):c.1732-2A>G
|
rs267607852
|
|
|
NM_000249.4(MLH1):c.1732-2A>T
|
rs267607852
|
|
|
NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs)
|
rs1553662622
|
|
|
NM_000249.4(MLH1):c.174_175delinsT (p.Leu58fs)
|
rs876660860
|
|
|
NM_000249.4(MLH1):c.1766C>A (p.Ala589Asp)
|
rs63750016
|
|
|
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del)
|
rs63750486
|
|
|
NM_000249.4(MLH1):c.1841_1842del (p.Phe614fs)
|
|
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
|
NM_000249.4(MLH1):c.1855G>C (p.Ala619Pro)
|
rs267607866
|
|
|
NM_000249.4(MLH1):c.1858del (p.Glu620fs)
|
rs786203456
|
|
|
NM_000249.4(MLH1):c.1864del (p.Ala623fs)
|
rs1559588540
|
|
|
NM_000249.4(MLH1):c.1866del (p.Ala623fs)
|
rs587778950
|
|
|
NM_000249.4(MLH1):c.1874_1896+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
|
|
|
|
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn)
|
rs63750850
|
|
|
NM_000249.4(MLH1):c.1896+1G>A
|
rs267607867
|
|
|
NM_000249.4(MLH1):c.1896+1G>T
|
rs267607867
|
|
|
NM_000249.4(MLH1):c.1896+1del
|
rs267607868
|
|
|
NM_000249.4(MLH1):c.1896+2T>C
|
rs267607869
|
|
|
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)
|
rs63751632
|
|
|
NM_000249.4(MLH1):c.1896G>C (p.Glu632Asp)
|
|
|
|
NM_000249.4(MLH1):c.1896G>T (p.Glu632Asp)
|
|
|
|
NM_000249.4(MLH1):c.1897-28_1900delinsTCAGAAAAT
|
|
|
|
NM_000249.4(MLH1):c.1897-2A>G
|
rs267607871
|
|
|
NM_000249.4(MLH1):c.1907T>C (p.Leu636Pro)
|
rs63750825
|
|
|
NM_000249.4(MLH1):c.1918C>A (p.Pro640Thr)
|
rs63749792
|
|
|
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)
|
rs63749792
|
|
|
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu)
|
rs267607875
|
|
|
NM_000249.4(MLH1):c.1926dup (p.Ile643fs)
|
rs2085415475
|
|
|
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)
|
|
|
|
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)
|
rs63750899
|
|
|
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)
|
rs63750610
|
|
|
NM_000249.4(MLH1):c.194G>A (p.Gly65Asp)
|
rs63751465
|
|
|
NM_000249.4(MLH1):c.1958T>G (p.Leu653Arg)
|
rs63751202
|
|
|
NM_000249.4(MLH1):c.1976G>C (p.Arg659Pro)
|
rs63749900
|
|
|
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro)
|
rs587778964
|
|
|
NM_000249.4(MLH1):c.1988A>G (p.Glu663Gly)
|
rs63751682
|
|
|
NM_000249.4(MLH1):c.1989+1G>C
|
rs267607879
|
|
|
NM_000249.4(MLH1):c.1989+1G>T
|
rs267607879
|
|
|
NM_000249.4(MLH1):c.1989+1del
|
|
|
|
NM_000249.4(MLH1):c.1989+2T>C
|
rs1553664119
|
|
|
NM_000249.4(MLH1):c.1989+5G>C
|
rs267607878
|
|
|
NM_000249.4(MLH1):c.1989+5G>T
|
rs267607878
|
|
|
NM_000249.4(MLH1):c.1989G>C (p.Glu663Asp)
|
rs63751662
|
|
|
NM_000249.4(MLH1):c.1990-16_1990-2del
|
rs267607881
|
|
|
NM_000249.4(MLH1):c.1990-1G>T
|
rs267607884
|
|
|
NM_000249.4(MLH1):c.1990-3_2001del
|
rs2085459433
|
|
|
NM_000249.4(MLH1):c.1996T>C (p.Trp666Arg)
|
rs267607887
|
|
|
NM_000249.4(MLH1):c.200G>T (p.Gly67Val)
|
rs63749939
|
|
|
NM_000249.4(MLH1):c.2027T>C (p.Leu676Pro)
|
rs63750242
|
|
|
NM_000249.4(MLH1):c.202_207+1del
|
|
|
|
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)
|
rs63750809
|
|
|
NM_000249.4(MLH1):c.203T>A (p.Ile68Asn)
|
rs63750281
|
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
|
NM_000249.4(MLH1):c.2041del (p.Ala681fs)
|
rs2085472296
|
|
|
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val)
|
rs63750864
|
|
|
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)
|
rs587778972
|
|
|
NM_000249.4(MLH1):c.2048_2050del (p.Phe683del)
|
rs1553664506
|
|
|
NM_000249.4(MLH1):c.2050T>G (p.Tyr684Asp)
|
rs1386031101
|
|
|
NM_000249.4(MLH1):c.207+1G>T
|
rs267607718
|
|
|
NM_000249.4(MLH1):c.207+1_207+2del
|
rs267607719
|
|
|
NM_000249.4(MLH1):c.207+2T>C
|
rs267607722
|
|
|
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter)
|
rs550890395
|
|
|
NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs)
|
rs876659681
|
|
|
NM_000249.4(MLH1):c.208-1G>C
|
|
|
|
NM_000249.4(MLH1):c.208-1_208del
|
rs587778973
|
|
|
NM_000249.4(MLH1):c.208-2A>C
|
rs267607716
|
|
|
NM_000249.4(MLH1):c.208-2A>G
|
rs267607716
|
|
|
NM_000249.4(MLH1):c.208-3C>G
|
rs267607720
|
|
|
NM_000249.4(MLH1):c.2097_2103+1dup
|
|
|
|
NM_000249.4(MLH1):c.2103+1G>C
|
rs267607888
|
|
|
NM_000249.4(MLH1):c.2103+1G>T
|
rs267607888
|
|
|
NM_000249.4(MLH1):c.2103+2T>C
|
|
|
|
NM_000249.4(MLH1):c.2103+3A>G
|
rs587778976
|
|
|
NM_000249.4(MLH1):c.2104-1G>C
|
|
|
|
NM_000249.4(MLH1):c.2104-1G>T
|
rs587778978
|
|
|
NM_000249.4(MLH1):c.2104-2A>C
|
|
|
|
NM_000249.4(MLH1):c.2104-2A>G
|
rs267607889
|
|
|
NM_000249.4(MLH1):c.2104-2A>T
|
rs267607889
|
|
|
NM_000249.4(MLH1):c.2128_2131dup (p.Ser711Ter)
|
|
|
|
NM_000249.4(MLH1):c.2144_2150del (p.Thr715fs)
|
|
|
|
NM_000249.4(MLH1):c.2153A>C (p.His718Pro)
|
rs587778983
|
|
|
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly)
|
rs587778985
|
|
|
NM_000249.4(MLH1):c.2172dup (p.Arg725fs)
|
|
|
|
NM_000249.4(MLH1):c.2187_2190dup (p.Pro731fs)
|
|
|
|
NM_000249.4(MLH1):c.218T>C (p.Leu73Pro)
|
rs397514684
|
|
|
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg)
|
rs397514684
|
|
|
NM_000249.4(MLH1):c.2236_2247del (p.Leu746_Leu749del)
|
rs1575641243
|
|
|
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs)
|
rs267607901
|
|
|
NM_000249.4(MLH1):c.2262del (p.Arg755fs)
|
rs267607904
|
|
|
NM_000249.4(MLH1):c.227T>A (p.Val76Glu)
|
rs1434599441
|
|
|
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)
|
rs63750437
|
|
|
NM_000249.4(MLH1):c.238T>G (p.Phe80Val)
|
rs63749990
|
|
|
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile)
|
rs63750005
|
|
|
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)
|
rs63750641
|
|
|
NM_000249.4(MLH1):c.275_278del (p.Ala92fs)
|
|
|
|
NM_000249.4(MLH1):c.27G>A (p.Arg9=)
|
rs759680369
|
|
|
NM_000249.4(MLH1):c.283del (p.Ser95fs)
|
rs1064795441
|
|
|
NM_000249.4(MLH1):c.292G>A (p.Gly98Ser)
|
rs267607725
|
|
|
NM_000249.4(MLH1):c.292G>C (p.Gly98Arg)
|
rs267607725
|
|
|
NM_000249.4(MLH1):c.293_304del (p.Gly98_Gly101del)
|
rs63751691
|
|
|
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro)
|
rs63750266
|
|
|
NM_000249.4(MLH1):c.2T>C (p.Met1Thr)
|
rs111052004
|
|
|
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser)
|
rs267607726
|
|
|
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp)
|
rs267607727
|
|
|
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)
|
rs63750453
|
|
|
NM_000249.4(MLH1):c.306+2T>C
|
|
|
|
NM_000249.4(MLH1):c.306G>C (p.Glu102Asp)
|
rs63751665
|
|
|
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)
|
rs63751665
|
|
|
NM_000249.4(MLH1):c.307-1G>A
|
|
|
|
NM_000249.4(MLH1):c.307-1G>C
|
rs267607736
|
|
|
NM_000249.4(MLH1):c.307-2A>C
|
rs267607732
|
|
|
NM_000249.4(MLH1):c.307-2A>G
|
rs267607732
|
|
|
NM_000249.4(MLH1):c.325del (p.His109fs)
|
rs1553641273
|
|
|
NM_000249.4(MLH1):c.331G>T (p.Ala111Ser)
|
|
|
|
NM_000249.4(MLH1):c.332C>T (p.Ala111Val)
|
rs63750539
|
|
|
NM_000249.4(MLH1):c.335_336del (p.His112fs)
|
|
|
|
NM_000249.4(MLH1):c.338T>A (p.Val113Asp)
|
rs63750559
|
|
|
NM_000249.4(MLH1):c.345_349del (p.Thr116fs)
|
rs2081714489
|
|
|
NM_000249.4(MLH1):c.347del (p.Thr116fs)
|
rs876661159
|
|
|
NM_000249.4(MLH1):c.34_46del (p.Leu11_Asp12insTer)
|
rs2080891193
|
|
|
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)
|
rs63750781
|
|
|
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)
|
rs63750781
|
|
|
NM_000249.4(MLH1):c.355A>G (p.Thr119Ala)
|
rs977932120
|
|
|
NM_000249.4(MLH1):c.366_369del (p.Lys123fs)
|
|
|
|
NM_000249.4(MLH1):c.372_380+8del
|
|
|
|
NM_000249.4(MLH1):c.374C>A (p.Ala125Glu)
|
rs1553641362
|
|
|
NM_000249.4(MLH1):c.380+1G>A
|
rs267607745
|
|
|
NM_000249.4(MLH1):c.380+1G>C
|
rs267607745
|
|
|
NM_000249.4(MLH1):c.380+1G>T
|
rs267607745
|
|
|
NM_000249.4(MLH1):c.380+1del
|
|
|
|
NM_000249.4(MLH1):c.380+2T>A
|
rs267607742
|
|
|
NM_000249.4(MLH1):c.380+2T>C
|
rs267607742
|
|
|
NM_000249.4(MLH1):c.380G>A (p.Arg127Lys)
|
rs63751595
|
|
|
NM_000249.4(MLH1):c.380G>T (p.Arg127Ile)
|
rs63751595
|
|
|
NM_000249.4(MLH1):c.380_380+1insTAT
|
|
|
|
NM_000249.4(MLH1):c.381-1G>C
|
rs267607744
|
|
|
NM_000249.4(MLH1):c.381-2A>G
|
rs267607743
|
|
|
NM_000249.4(MLH1):c.388T>C (p.Tyr130His)
|
rs587779010
|
|
|
NM_000249.4(MLH1):c.393del (p.Asp132fs)
|
rs2081922847
|
|
|
NM_000249.4(MLH1):c.3G>T (p.Met1Ile)
|
rs72481822
|
|
|
NM_000249.4(MLH1):c.404_407del (p.Leu135fs)
|
rs587779014
|
|
|
NM_000249.4(MLH1):c.440G>A (p.Gly147Glu)
|
rs1060500702
|
|
|
NM_000249.4(MLH1):c.453+1G>T
|
rs267607750
|
|
|
NM_000249.4(MLH1):c.453+2_453+7delinsGATC
|
rs1575441094
|
|
|
NM_000249.4(MLH1):c.454-13A>G
|
rs267607749
|
|
|
NM_000249.4(MLH1):c.454-1G>C
|
rs193922370
|
|
|
NM_000249.4(MLH1):c.454-1G>T
|
rs193922370
|
|
|
NM_000249.4(MLH1):c.454-2A>G
|
rs267607753
|
|
|
NM_000249.4(MLH1):c.464T>G (p.Leu155Arg)
|
rs63750891
|
|
|
NM_000249.4(MLH1):c.469dup (p.Tyr157fs)
|
rs63751101
|
|
|
NM_000249.4(MLH1):c.536TTG[1] (p.Val180del)
|
rs786201988
|
|
|
NM_000249.4(MLH1):c.543C>G (p.Gly181=)
|
rs1481129490
|
|
|
NM_000249.4(MLH1):c.543C>T (p.Gly181=)
|
rs1481129490
|
|
|
NM_000249.4(MLH1):c.545+1G>A
|
rs267607765
|
|
|
NM_000249.4(MLH1):c.545G>A (p.Arg182Lys)
|
rs587779021
|
|
|
NM_000249.4(MLH1):c.545G>C (p.Arg182Thr)
|
rs587779021
|
|
|
NM_000249.4(MLH1):c.546-1G>A
|
rs587779022
|
|
|
NM_000249.4(MLH1):c.554T>G (p.Val185Gly)
|
rs63750515
|
|
|
NM_000249.4(MLH1):c.574_588+2del
|
rs587779023
|
|
|
NM_000249.4(MLH1):c.577T>C (p.Ser193Pro)
|
rs63751021
|
|
|
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter)
|
rs863225383
|
|
|
NM_000249.4(MLH1):c.588+1del
|
rs267607773
|
|
|
NM_000249.4(MLH1):c.588+2T>A
|
rs587779024
|
|
|
NM_000249.4(MLH1):c.589-1G>A
|
rs587779027
|
|
|
NM_000249.4(MLH1):c.589-1G>T
|
rs587779027
|
|
|
NM_000249.4(MLH1):c.589-2A>C
|
rs267607767
|
|
|
NM_000249.4(MLH1):c.62C>T (p.Ala21Val)
|
rs63750706
|
|
|
NM_000249.4(MLH1):c.677+1G>A
|
rs267607778
|
|
|
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)
|
rs63751711
|
|
|
NM_000249.4(MLH1):c.677_677+1insT
|
rs587779033
|
|
|
NM_000249.4(MLH1):c.678-1G>A
|
rs267607784
|
|
|
NM_000249.4(MLH1):c.678-1G>C
|
rs267607784
|
|
|
NM_000249.4(MLH1):c.678-1G>T
|
rs267607784
|
|
|
NM_000249.4(MLH1):c.678-2A>C
|
|
|
|
NM_000249.4(MLH1):c.678-2A>G
|
rs587779035
|
|
|
NM_000249.4(MLH1):c.678-3_678-1del
|
|
|
|
NM_000249.4(MLH1):c.696_698del (p.Cys233del)
|
rs1575480253
|
|
|
NM_000249.4(MLH1):c.731G>T (p.Gly244Val)
|
rs63750303
|
|
|
NM_000249.4(MLH1):c.73A>T (p.Ile25Phe)
|
rs63749838
|
|
|
NM_000249.4(MLH1):c.765_766insA (p.Cys256fs)
|
|
|
|
NM_000249.4(MLH1):c.790+1G>C
|
rs267607789
|
|
|
NM_000249.4(MLH1):c.790+4A>G
|
rs267607786
|
|
|
NM_000249.4(MLH1):c.791-1G>C
|
rs267607795
|
|
|
NM_000249.4(MLH1):c.791-1G>T
|
rs267607795
|
|
|
NM_000249.4(MLH1):c.791-2A>G
|
rs267607794
|
|
|
NM_000249.4(MLH1):c.791-3T>G
|
|
|
|
NM_000249.4(MLH1):c.791-7T>A
|
rs587779042
|
|
|
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)
|
rs63751194
|
|
|
NM_000249.4(MLH1):c.793C>G (p.Arg265Gly)
|
rs63751194
|
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
|
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro)
|
rs63751448
|
|
|
NM_000249.4(MLH1):c.816del (p.Arg273fs)
|
rs2125837110
|
|
|
NM_000249.4(MLH1):c.827T>G (p.Ile276Arg)
|
rs1253275403
|
|
|
NM_000249.4(MLH1):c.83del (p.Pro28fs)
|
|
|
|
NM_000249.4(MLH1):c.84del (p.Ala29fs)
|
rs587779045
|
|
|
NM_000249.4(MLH1):c.860del (p.Asn287fs)
|
rs63750034
|
|
|
NM_000249.4(MLH1):c.86C>G (p.Ala29Gly)
|
rs63750216
|
|
|
NM_000249.4(MLH1):c.875T>C (p.Leu292Pro)
|
rs63750517
|
|
|
NM_000249.4(MLH1):c.879C>G (p.Tyr293Ter)
|
|
|
|
NM_000249.4(MLH1):c.882C>T (p.Leu294=)
|
rs63751707
|
|
|
NM_000249.4(MLH1):c.884+2T>C
|
rs267607806
|
|
|
NM_000249.4(MLH1):c.884+3A>G
|
rs267607803
|
|
|
NM_000249.4(MLH1):c.884+4A>G
|
rs267607777
|
|
|
NM_000249.4(MLH1):c.884G>A (p.Ser295Asn)
|
rs63750144
|
|
|
NM_000249.4(MLH1):c.884G>C (p.Ser295Thr)
|
rs63750144
|
|
|
NM_000249.4(MLH1):c.885-1G>T
|
|
|
|
NM_000249.4(MLH1):c.885-2A>C
|
rs267607805
|
|
|
NM_000249.4(MLH1):c.885-2A>G
|
rs267607805
|
|
|
NM_000249.4(MLH1):c.88_108del (p.Asn30_Ile36del)
|
|
|
|
NM_000249.4(MLH1):c.911A>T (p.Asp304Val)
|
rs63750993
|
|
|
NM_000249.4(MLH1):c.918T>A (p.Asn306Lys)
|
rs587779054
|
|
|
NM_000249.4(MLH1):c.923A>C (p.His308Pro)
|
rs1559543768
|
|
|
NM_000249.4(MLH1):c.927dup (p.Thr310fs)
|
rs1553647995
|
|
|
NM_000249.4(MLH1):c.92C>A (p.Ala31Asp)
|
|
|
|
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu)
|
rs876658657
|
|
|
NM_000249.4(MLH1):c.960_964dup (p.Ile322fs)
|
rs1553648047
|
|
|
NM_000249.4(MLH1):c.971dup (p.Arg325fs)
|
rs587781554
|
|
|
NM_000249.4(MLH1):c.978GCA[2] (p.Gln328del)
|
rs2082985381
|
|
|
NM_000249.4(MLH1):c.980_983dup (p.His329fs)
|
rs1559544297
|
|
|
NM_000249.4(MLH1):c.988_990del (p.Ile330del)
|
rs63751197
|
|
|
NM_000249.4(MLH1):c.9_21del (p.Phe3fs)
|
rs1064795341
|
|
|
NM_000251.2(MSH2):c.-78_-77del
|
rs587779182
|
|
|
NM_000251.2(MSH2):c.-82G>C
|
rs866991159
|
|
|
NM_000251.2(MSH2):c.1077-66_1146del
|
rs193922372
|
|
|
NM_000251.2(MSH2):c.1077-?_*279+?del
|
|
|
|
NM_000251.2(MSH2):c.1077-?_1276+?dup
|
|
|
|
NM_000251.2(MSH2):c.212-?_366+?dup
|
|
|
|
NM_000251.2(MSH2):c.646-?_792+?del
|
|
|
|
NM_000251.2(MSH2):c.793-?_1276+?dup
|
|
|
|
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)
|
rs63751004
|
|
|
NM_000251.3(MSH2):c.1012G>C (p.Gly338Arg)
|
rs63751004
|
|
|
NM_000251.3(MSH2):c.1013G>T (p.Gly338Val)
|
rs587779065
|
|
|
NM_000251.3(MSH2):c.1015C>T (p.Gln339Ter)
|
rs1558466577
|
|
|
NM_000251.3(MSH2):c.1022T>C (p.Leu341Pro)
|
rs63751147
|
|
|
NM_000251.3(MSH2):c.1031A>C (p.Gln344Pro)
|
rs1673078633
|
|
|
NM_000251.3(MSH2):c.1042del (p.Gln348fs)
|
rs1553353233
|
|
|
NM_000251.3(MSH2):c.1045C>A (p.Pro349Thr)
|
rs267607939
|
|
|
NM_000251.3(MSH2):c.1045C>T (p.Pro349Ser)
|
rs267607939
|
|
|
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg)
|
rs587779067
|
|
|
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu)
|
rs587779067
|
|
|
NM_000251.3(MSH2):c.1046_1047delinsGC (p.Pro349Arg)
|
rs1558466685
|
|
|
NM_000251.3(MSH2):c.1067T>A (p.Ile356Lys)
|
rs753075410
|
|
|
NM_000251.3(MSH2):c.1075A>G (p.Arg359Gly)
|
|
|
|
NM_000251.3(MSH2):c.1076+1G>T
|
rs267607940
|
|
|
NM_000251.3(MSH2):c.1076+1del
|
|
|
|
NM_000251.3(MSH2):c.1076+1dup
|
rs1673083690
|
|
|
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr)
|
rs63751604
|
|
|
NM_000251.3(MSH2):c.1076G>T (p.Arg359Ile)
|
rs63751604
|
|
|
NM_000251.3(MSH2):c.1077-1G>C
|
rs267607944
|
|
|
NM_000251.3(MSH2):c.1077-1G>T
|
rs267607944
|
|
|
NM_000251.3(MSH2):c.1077-2A>G
|
rs267607943
|
|
|
NM_000251.3(MSH2):c.1077-2A>T
|
rs267607943
|
|
|
NM_000251.3(MSH2):c.1098_1099insTC (p.Val367fs)
|
|
|
|
NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter)
|
rs730881755
|
|
|
NM_000251.3(MSH2):c.1163dup (p.Asn388fs)
|
rs2104439295
|
|
|
NM_000251.3(MSH2):c.1186del (p.Arg396fs)
|
|
|
|
NM_000251.3(MSH2):c.1213_1217dup (p.Leu407fs)
|
|
|
|
NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter)
|
rs63750132
|
|
|
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs)
|
rs863225388
|
|
|
NM_000251.3(MSH2):c.1272_1276+6del
|
|
|
|
NM_000251.3(MSH2):c.1276+1G>A
|
rs267607950
|
|
|
NM_000251.3(MSH2):c.1276+1G>C
|
rs267607950
|
|
|
NM_000251.3(MSH2):c.1276+1G>T
|
rs267607950
|
|
|
NM_000251.3(MSH2):c.1276+2T>A
|
rs267607953
|
|
|
NM_000251.3(MSH2):c.1276+2T>C
|
rs267607953
|
|
|
NM_000251.3(MSH2):c.1276G>A (p.Gly426Arg)
|
rs879254234
|
|
|
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg)
|
rs879254234
|
|
|
NM_000251.3(MSH2):c.1277-1G>A
|
rs267607948
|
|
|
NM_000251.3(MSH2):c.1277-1G>C
|
rs267607948
|
|
|
NM_000251.3(MSH2):c.1277-1G>T
|
rs267607948
|
|
|
NM_000251.3(MSH2):c.1277-2A>C
|
rs267607949
|
|
|
NM_000251.3(MSH2):c.1277-2A>G
|
rs267607949
|
|
|
NM_000251.3(MSH2):c.1277-2A>T
|
rs267607949
|
|
|
NM_000251.3(MSH2):c.1319T>G (p.Leu440Arg)
|
rs587779084
|
|
|
NM_000251.3(MSH2):c.1339_1340del (p.Phe447fs)
|
rs1553361231
|
|
|
NM_000251.3(MSH2):c.1361T>G (p.Ile454Arg)
|
rs1060502025
|
|
|
NM_000251.3(MSH2):c.1369A>C (p.Thr457Pro)
|
|
|
|
NM_000251.3(MSH2):c.1386+1G>A
|
rs267607957
|
|
|
NM_000251.3(MSH2):c.1386+1G>C
|
rs267607957
|
|
|
NM_000251.3(MSH2):c.1386+1G>T
|
rs267607957
|
|
|
NM_000251.3(MSH2):c.1386+2T>C
|
rs1675076969
|
|
|
NM_000251.3(MSH2):c.1386+2T>G
|
|
|
|
NM_000251.3(MSH2):c.1387-1G>T
|
rs267607956
|
|
|
NM_000251.3(MSH2):c.1387-2A>T
|
|
|
|
NM_000251.3(MSH2):c.1401del (p.Glu467fs)
|
rs1553365711
|
|
|
NM_000251.3(MSH2):c.1433T>G (p.Leu478Arg)
|
|
|
|
NM_000251.3(MSH2):c.1508T>C (p.Leu503Pro)
|
rs587779095
|
|
|
NM_000251.3(MSH2):c.1510+1G>A
|
rs1114167852
|
|
|
NM_000251.3(MSH2):c.1510+1G>C
|
|
|
|
NM_000251.3(MSH2):c.1510+1G>T
|
|
|
|
NM_000251.3(MSH2):c.1510+2T>A
|
|
|
|
NM_000251.3(MSH2):c.1510+2T>C
|
rs1060502023
|
|
|
NM_000251.3(MSH2):c.1510+2_1510+50del
|
rs1558508399
|
|
|
NM_000251.3(MSH2):c.1511-1G>A
|
rs267607964
|
|
|
NM_000251.3(MSH2):c.1511-2A>C
|
rs267607962
|
|
|
NM_000251.3(MSH2):c.1511-2A>G
|
rs267607962
|
|
|
NM_000251.3(MSH2):c.1527dup (p.Gln510fs)
|
|
|
|
NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter)
|
rs63750330
|
|
|
NM_000251.3(MSH2):c.1568T>C (p.Phe523Ser)
|
rs587782587
|
|
|
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)
|
rs63751207
|
|
|
NM_000251.3(MSH2):c.1587del (p.Glu530fs)
|
rs63750845
|
|
|
NM_000251.3(MSH2):c.1613dup (p.Asn538fs)
|
|
|
|
NM_000251.3(MSH2):c.1636A>G (p.Lys546Glu)
|
|
|
|
NM_000251.3(MSH2):c.1654A>C (p.Thr552Pro)
|
rs63750838
|
|
|
NM_000251.3(MSH2):c.1659_1661+2delinsGAGGG
|
|
|
|
NM_000251.3(MSH2):c.1660A>C (p.Ser554Arg)
|
rs63751656
|
|
|
NM_000251.3(MSH2):c.1661+1G>A
|
rs267607969
|
|
|
NM_000251.3(MSH2):c.1661+1G>T
|
rs267607969
|
|
|
NM_000251.3(MSH2):c.1661+1del
|
|
|
|
NM_000251.3(MSH2):c.1661+5G>A
|
rs267607972
|
|
|
NM_000251.3(MSH2):c.1661+5G>C
|
rs267607972
|
|
|
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn)
|
rs63750597
|
|
|
NM_000251.3(MSH2):c.1661G>C (p.Ser554Thr)
|
rs63750597
|
|
|
NM_000251.3(MSH2):c.1662-1G>A
|
rs267607970
|
|
|
NM_000251.3(MSH2):c.1662-2A>G
|
rs267607971
|
|
|
NM_000251.3(MSH2):c.1667T>G (p.Leu556Trp)
|
rs587779101
|
|
|
NM_000251.3(MSH2):c.166del (p.Glu56fs)
|
rs63750087
|
|
|
NM_000251.3(MSH2):c.1721A>C (p.Gln574Pro)
|
rs1667078647
|
|
|
NM_000251.3(MSH2):c.1759+1G>A
|
rs587779108
|
|
|
NM_000251.3(MSH2):c.1759+2T>C
|
rs267607976
|
|
|
NM_000251.3(MSH2):c.1760-1G>A
|
rs587779110
|
|
|
NM_000251.3(MSH2):c.1763_1764del (p.Tyr588fs)
|
rs1667229261
|
|
|
NM_000251.3(MSH2):c.1784T>G (p.Leu595Arg)
|
rs786201590
|
|
|
NM_000251.3(MSH2):c.1789_1790insT (p.Asp597fs)
|
|
|
|
NM_000251.3(MSH2):c.1807G>C (p.Asp603His)
|
rs63750657
|
|
|
NM_000251.3(MSH2):c.1807G>T (p.Asp603Tyr)
|
|
|
|
NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly)
|
rs267607985
|
|
|
NM_000251.3(MSH2):c.1811C>A (p.Ala604Asp)
|
|
|
|
NM_000251.3(MSH2):c.1829A>C (p.His610Pro)
|
|
|
|
NM_000251.3(MSH2):c.1832T>A (p.Val611Glu)
|
rs1553368590
|
|
|
NM_000251.3(MSH2):c.1838dup (p.Asn613fs)
|
rs1114167815
|
|
|
NM_000251.3(MSH2):c.1850_1851dup (p.Pro618fs)
|
rs1573566787
|
|
|
NM_000251.3(MSH2):c.1861C>G (p.Arg621Gly)
|
rs63750508
|
|
|
NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr)
|
rs63750280
|
|
|
NM_000251.3(MSH2):c.1864C>T (p.Pro622Ser)
|
|
|
|
NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln)
|
rs28929483
|
|
|
NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg)
|
rs28929483
|
|
|
NM_000251.3(MSH2):c.1905del (p.Ala636fs)
|
|
|
|
NM_000251.3(MSH2):c.1906_2005+8del
|
|
|
|
NM_000251.3(MSH2):c.1942dup (p.Ile648fs)
|
|
|
|
NM_000251.3(MSH2):c.1950dup (p.Ile651fs)
|
rs1114167844
|
|
|
NM_000251.3(MSH2):c.1955C>A (p.Pro652His)
|
rs267607983
|
|
|
NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly)
|
rs1085308057
|
|
|
NM_000251.3(MSH2):c.198del (p.Lys65_Tyr66insTer)
|
|
|
|
NM_000251.3(MSH2):c.2004delinsCA (p.Gly669fs)
|
rs876659961
|
|
|
NM_000251.3(MSH2):c.2005+1G>A
|
rs267607986
|
|
|
NM_000251.3(MSH2):c.2005+1G>C
|
rs267607986
|
|
|
NM_000251.3(MSH2):c.2005+1G>T
|
rs267607986
|
|
|
NM_000251.3(MSH2):c.2005+2T>A
|
|
|
|
NM_000251.3(MSH2):c.2005+2T>C
|
rs267607987
|
|
|
NM_000251.3(MSH2):c.2005+2T>G
|
rs267607987
|
|
|
NM_000251.3(MSH2):c.2005+2_2005+12del
|
rs587779123
|
|
|
NM_000251.3(MSH2):c.2005+2del
|
rs587779124
|
|
|
NM_000251.3(MSH2):c.2005+2dup
|
rs541623924
|
|
|
NM_000251.3(MSH2):c.2006-1G>A
|
|
|
|
NM_000251.3(MSH2):c.2006-1G>C
|
rs267607988
|
|
|
NM_000251.3(MSH2):c.2006-1G>T
|
rs267607988
|
|
|
NM_000251.3(MSH2):c.2006-2A>G
|
rs267607991
|
|
|
NM_000251.3(MSH2):c.2006-4_2006-2delinsCT
|
|
|
|
NM_000251.3(MSH2):c.2006-6_2006-2delinsCTGTG
|
|
|
|
NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp)
|
rs63751640
|
|
|
NM_000251.3(MSH2):c.2006G>T (p.Gly669Val)
|
rs63751640
|
|
|
NM_000251.3(MSH2):c.2010dup (p.Asn671fs)
|
rs63751123
|
|
|
NM_000251.3(MSH2):c.2011A>T (p.Asn671Tyr)
|
rs63751232
|
|
|
NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys)
|
rs587779127
|
|
|
NM_000251.3(MSH2):c.201_211+3del
|
|
|
|
NM_000251.3(MSH2):c.2020G>C (p.Gly674Arg)
|
rs63750234
|
|
|
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp)
|
rs267607996
|
|
|
NM_000251.3(MSH2):c.2027C>A (p.Ser676Ter)
|
|
|
|
NM_000251.3(MSH2):c.2027C>T (p.Ser676Leu)
|
rs1057520735
|
|
|
NM_000251.3(MSH2):c.2030C>G (p.Thr677Arg)
|
rs876660711
|
|
|
NM_000251.3(MSH2):c.2039G>C (p.Arg680Pro)
|
rs1203462814
|
|
|
NM_000251.3(MSH2):c.2042A>C (p.Gln681Pro)
|
rs1667302018
|
|
|
NM_000251.3(MSH2):c.2042_2045delinsCAAT (p.Gln681_Thr682delinsProIle)
|
|
|
|
NM_000251.3(MSH2):c.2054T>G (p.Ile685Arg)
|
rs1667303602
|
|
|
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)
|
rs587779133
|
|
|
NM_000251.3(MSH2):c.2060T>G (p.Leu687Arg)
|
|
|
|
NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro)
|
rs914610419
|
|
|
NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp)
|
rs1060502020
|
|
|
NM_000251.3(MSH2):c.2068C>A (p.Gln690Lys)
|
|
|
|
NM_000251.3(MSH2):c.2073del (p.Ile691fs)
|
|
|
|
NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg)
|
rs63750232
|
|
|
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp)
|
rs63750232
|
|
|
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu)
|
rs63751432
|
|
|
NM_000251.3(MSH2):c.2075G>T (p.Gly692Val)
|
rs63751432
|
|
|
NM_000251.3(MSH2):c.2078G>A (p.Cys693Tyr)
|
rs1057524909
|
|
|
NM_000251.3(MSH2):c.2078del (p.Cys693fs)
|
|
|
|
NM_000251.3(MSH2):c.207_211+42del
|
rs1553348901
|
|
|
NM_000251.3(MSH2):c.2080T>A (p.Phe694Ile)
|
rs63751409
|
|
|
NM_000251.3(MSH2):c.2083G>A (p.Val695Met)
|
rs772491283
|
|
|
NM_000251.3(MSH2):c.2087C>G (p.Pro696Arg)
|
|
|
|
NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu)
|
rs267607994
|
|
|
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)
|
rs63750398
|
|
|
NM_000251.3(MSH2):c.2090G>C (p.Cys697Ser)
|
rs63750398
|
|
|
NM_000251.3(MSH2):c.2091T>G (p.Cys697Trp)
|
|
|
|
NM_000251.3(MSH2):c.2099C>A (p.Ala700Glu)
|
rs876658251
|
|
|
NM_000251.3(MSH2):c.209C>T (p.Ala70Val)
|
rs587782481
|
|
|
NM_000251.3(MSH2):c.2105T>A (p.Val702Glu)
|
rs587779137
|
|
|
NM_000251.3(MSH2):c.211G>A (p.Gly71Arg)
|
|
|
|
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)
|
rs587782659
|
|
|
NM_000251.3(MSH2):c.212-2A>G
|
rs267607917
|
|
|
NM_000251.3(MSH2):c.212-2A>T
|
rs267607917
|
|
|
NM_000251.3(MSH2):c.2123T>A (p.Ile708Asn)
|
rs63750108
|
|
|
NM_000251.3(MSH2):c.2132G>C (p.Arg711Pro)
|
rs138465383
|
|
|
NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe)
|
rs63750794
|
|
|
NM_000251.3(MSH2):c.2181dup (p.Glu728Ter)
|
rs2104378200
|
|
|
NM_000251.3(MSH2):c.2194A>C (p.Thr732Pro)
|
|
|
|
NM_000251.3(MSH2):c.2210+1G>A
|
rs267608002
|
|
|
NM_000251.3(MSH2):c.2210+1G>C
|
rs267608002
|
|
|
NM_000251.3(MSH2):c.2210+2T>A
|
|
|
|
NM_000251.3(MSH2):c.2211-10T>A
|
rs267608006
|
|
|
NM_000251.3(MSH2):c.2211-1G>A
|
rs267607979
|
|
|
NM_000251.3(MSH2):c.2211-1G>C
|
rs267607979
|
|
|
NM_000251.3(MSH2):c.2211-1G>T
|
rs267607979
|
|
|
NM_000251.3(MSH2):c.2211-2A>C
|
rs267608001
|
|
|
NM_000251.3(MSH2):c.2211-2A>G
|
rs267608001
|
|
|
NM_000251.3(MSH2):c.2211-2A>T
|
rs267608001
|
|
|
NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu)
|
rs63751155
|
|
|
NM_000251.3(MSH2):c.2236_2237dup (p.Ile747fs)
|
|
|
|
NM_000251.3(MSH2):c.2236_2241del (p.Ile746_Ile747del)
|
rs587779142
|
|
|
NM_000251.3(MSH2):c.2242G>C (p.Asp748His)
|
rs267608007
|
|
|
NM_000251.3(MSH2):c.2245G>A (p.Glu749Lys)
|
rs63751477
|
|
|
NM_000251.3(MSH2):c.2246A>G (p.Glu749Gly)
|
|
|
|
NM_000251.3(MSH2):c.2251G>A (p.Gly751Arg)
|
rs63751119
|
|
|
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg)
|
rs63751119
|
|
|
NM_000251.3(MSH2):c.2266A>C (p.Thr756Pro)
|
rs750646335
|
|
|
NM_000251.3(MSH2):c.2272G>T (p.Asp758Tyr)
|
rs876658254
|
|
|
NM_000251.3(MSH2):c.2275G>A (p.Gly759Arg)
|
rs63749854
|
|
|
NM_000251.3(MSH2):c.2276G>T (p.Gly759Val)
|
rs386833406
|
|
|
NM_000251.3(MSH2):c.2281G>A (p.Gly761Arg)
|
rs1060502038
|
|
|
NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg)
|
rs1060502038
|
|
|
NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro)
|
rs1318630651
|
|
|
NM_000251.3(MSH2):c.2290dup (p.Trp764fs)
|
rs2104402437
|
|
|
NM_000251.3(MSH2):c.2291_2297del (p.Trp764fs)
|
|
|
|
NM_000251.3(MSH2):c.2304del (p.Glu768fs)
|
rs587783053
|
|
|
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val)
|
rs775464903
|
|
|
NM_000251.3(MSH2):c.2332del (p.Cys778fs)
|
rs1573574188
|
|
|
NM_000251.3(MSH2):c.2335dup (p.Met779fs)
|
rs63750149
|
|
|
NM_000251.3(MSH2):c.2342del (p.Ala781fs)
|
|
|
|
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)
|
rs1558521929
|
|
|
NM_000251.3(MSH2):c.2363_2364del (p.Thr788fs)
|
rs63750937
|
|
|
NM_000251.3(MSH2):c.2363del (p.Thr788fs)
|
rs2104405789
|
|
|
NM_000251.3(MSH2):c.2365del (p.Ala789fs)
|
|
|
|
NM_000251.3(MSH2):c.2367del (p.Leu790fs)
|
rs1667397201
|
|
|
NM_000251.3(MSH2):c.2395_2396insTT (p.Asn799fs)
|
|
|
|
NM_000251.3(MSH2):c.2399T>C (p.Leu800Pro)
|
|
|
|
NM_000251.3(MSH2):c.239T>C (p.Leu80Pro)
|
|
|
|
NM_000251.3(MSH2):c.2402A>C (p.His801Pro)
|
rs1114167875
|
|
|
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)
|
rs202145681
|
|
|
NM_000251.3(MSH2):c.2458+1G>A
|
rs267608010
|
|
|
NM_000251.3(MSH2):c.2458+1G>C
|
|
|
|
NM_000251.3(MSH2):c.2458+1G>T
|
rs267608010
|
|
|
NM_000251.3(MSH2):c.2459-12A>G
|
rs267608012
|
|
|
NM_000251.3(MSH2):c.2459-1G>A
|
rs1060501991
|
|
|
NM_000251.3(MSH2):c.2459-1G>C
|
rs1060501991
|
|
|
NM_000251.3(MSH2):c.2459-1G>T
|
|
|
|
NM_000251.3(MSH2):c.2459-2A>C
|
|
|
|
NM_000251.3(MSH2):c.2459-2A>G
|
rs267608011
|
|
|
NM_000251.3(MSH2):c.2466T>A (p.Cys822Ter)
|
rs63749846
|
|
|
NM_000251.3(MSH2):c.2491dup (p.Ala831fs)
|
|
|
|
NM_000251.3(MSH2):c.2551_2552insCA (p.Leu851fs)
|
rs1553370381
|
|
|
NM_000251.3(MSH2):c.2562del (p.Gln855fs)
|
rs1114167836
|
|
|
NM_000251.3(MSH2):c.2619C>A (p.Cys873Ter)
|
|
|
|
NM_000251.3(MSH2):c.2629A>T (p.Arg877Ter)
|
rs1667504677
|
|
|
NM_000251.3(MSH2):c.2634+1G>A
|
rs267608019
|
|
|
NM_000251.3(MSH2):c.2634+1G>T
|
rs267608019
|
|
|
NM_000251.3(MSH2):c.2634+5G>C
|
rs267608017
|
|
|
NM_000251.3(MSH2):c.2634+5G>T
|
rs267608017
|
|
|
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp)
|
rs63751624
|
|
|
NM_000251.3(MSH2):c.2635-1G>A
|
rs267608020
|
|
|
NM_000251.3(MSH2):c.2635-1G>C
|
rs267608020
|
|
|
NM_000251.3(MSH2):c.2635-1G>T
|
rs267608020
|
|
|
NM_000251.3(MSH2):c.2635-24A>G
|
rs1667575488
|
|
|
NM_000251.3(MSH2):c.2635-2A>G
|
rs1114167818
|
|
|
NM_000251.3(MSH2):c.2635-2del
|
|
|
|
NM_000251.3(MSH2):c.2637del (p.Gly880fs)
|
|
|
|
NM_000251.3(MSH2):c.2639del (p.Gly880fs)
|
|
|
|
NM_000251.3(MSH2):c.2680dup (p.Met894fs)
|
rs876658211
|
|
|
NM_000251.3(MSH2):c.2699C>G (p.Ser900Ter)
|
rs878853814
|
|
|
NM_000251.3(MSH2):c.277C>T (p.Leu93Phe)
|
rs63751429
|
|
|
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del)
|
rs587779157
|
|
|
NM_000251.3(MSH2):c.340G>T (p.Glu114Ter)
|
rs878853815
|
|
|
NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter)
|
rs1553350250
|
|
|
NM_000251.3(MSH2):c.356T>A (p.Leu119Ter)
|
rs1573437173
|
|
|
NM_000251.3(MSH2):c.366+1G>A
|
rs267607924
|
|
|
NM_000251.3(MSH2):c.366+1G>C
|
|
|
|
NM_000251.3(MSH2):c.366+1G>T
|
rs267607924
|
|
|
NM_000251.3(MSH2):c.367-1G>A
|
rs267607925
|
|
|
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)
|
rs1060501989
|
|
|
NM_000251.3(MSH2):c.443T>A (p.Val148Glu)
|
rs1553350714
|
|
|
NM_000251.3(MSH2):c.448_449del (p.Gly149_Val150insTer)
|
|
|
|
NM_000251.3(MSH2):c.482T>A (p.Val161Asp)
|
rs63750126
|
|
|
NM_000251.3(MSH2):c.482T>C (p.Val161Ala)
|
rs63750126
|
|
|
NM_000251.3(MSH2):c.488T>A (p.Val163Asp)
|
rs63750214
|
|
|
NM_000251.3(MSH2):c.490G>A (p.Gly164Arg)
|
rs63750582
|
|
|
NM_000251.3(MSH2):c.490G>T (p.Gly164Trp)
|
rs63750582
|
|
|
NM_000251.3(MSH2):c.491G>A (p.Gly164Glu)
|
rs786204082
|
|
|
NM_000251.3(MSH2):c.493T>G (p.Tyr165Asp)
|
rs587779163
|
|
|
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)
|
rs63750070
|
|
|
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro)
|
rs63751291
|
|
|
NM_000251.3(MSH2):c.524del (p.Leu175fs)
|
|
|
|
NM_000251.3(MSH2):c.560T>G (p.Leu187Arg)
|
rs63751444
|
|
|
NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del)
|
rs63750088
|
|
|
NM_000251.3(MSH2):c.592G>A (p.Glu198Lys)
|
rs587779166
|
|
|
NM_000251.3(MSH2):c.596G>A (p.Cys199Tyr)
|
rs63751136
|
|
|
NM_000251.3(MSH2):c.640_645+1del
|
|
|
|
NM_000251.3(MSH2):c.642_645+3delinsCAAATTG
|
|
|
|
NM_000251.3(MSH2):c.645+1G>T
|
rs267607689
|
|
|
NM_000251.3(MSH2):c.645+2T>C
|
rs876658996
|
|
|
NM_000251.3(MSH2):c.646-2A>C
|
rs587779169
|
|
|
NM_000251.3(MSH2):c.646-2A>G
|
rs587779169
|
|
|
NM_000251.3(MSH2):c.646-3_654del
|
rs267607929
|
|
|
NM_000251.3(MSH2):c.646-5_655del
|
|
|
|
NM_000251.3(MSH2):c.647_648insTG (p.Ile217fs)
|
|
|
|
NM_000251.3(MSH2):c.659_661delinsAAT (p.Gly220_Gly221delinsGluTer)
|
|
|
|
NM_000251.3(MSH2):c.690_693delinsCT (p.Asp231fs)
|
|
|
|
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)
|
rs587779976
|
|
|
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)
|
rs864622183
|
|
|
NM_000251.3(MSH2):c.75del (p.Met26fs)
|
rs1553348760
|
|
|
NM_000251.3(MSH2):c.792+1del
|
rs1064794155
|
|
|
NM_000251.3(MSH2):c.793-1G>C
|
|
|
|
NM_000251.3(MSH2):c.793-1G>T
|
|
|
|
NM_000251.3(MSH2):c.793-2A>C
|
rs267607933
|
|
|
NM_000251.3(MSH2):c.793-2A>G
|
rs267607933
|
|
|
NM_000251.3(MSH2):c.793-2A>T
|
|
|
|
NM_000251.3(MSH2):c.802_803insGT (p.Ser268fs)
|
|
|
|
NM_000251.3(MSH2):c.806C>A (p.Ser269Ter)
|
rs63750058
|
|
|
NM_000251.3(MSH2):c.809T>C (p.Leu270Pro)
|
rs1573451078
|
|
|
NM_000251.3(MSH2):c.809T>G (p.Leu270Arg)
|
|
|
|
NM_000251.3(MSH2):c.845_848del (p.Asp282fs)
|
rs1553352462
|
|
|
NM_000251.3(MSH2):c.85A>T (p.Lys29Ter)
|
rs1060502001
|
|
|
NM_000251.3(MSH2):c.860dup (p.Gln288fs)
|
rs193922375
|
|
|
NM_000251.3(MSH2):c.866_867dup (p.Glu290fs)
|
rs1672951706
|
|
|
NM_000251.3(MSH2):c.870_874del (p.Glu290fs)
|
rs1114167848
|
|
|
NM_000251.3(MSH2):c.940del (p.Gln314fs)
|
|
|
|
NM_000251.3(MSH2):c.942+1G>T
|
rs587779193
|
|
|
NM_000251.3(MSH2):c.942+1del
|
rs1194793421
|
|
|
NM_000251.3(MSH2):c.942+2T>G
|
rs587779195
|
|
|
NM_000251.3(MSH2):c.942+2_942+4del
|
rs767111319
|
|
|
NM_000251.3(MSH2):c.942+2del
|
rs587779194
|
|
|
NM_000251.3(MSH2):c.942+3A>C
|
rs193922376
|
|
|
NM_000251.3(MSH2):c.942+3A>G
|
rs193922376
|
|
|
NM_000251.3(MSH2):c.942G>A (p.Gln314=)
|
rs587779197
|
|
|
NM_000251.3(MSH2):c.943-1G>A
|
rs12476364
|
|
|
NM_000251.3(MSH2):c.943-1G>C
|
rs12476364
|
|
|
NM_000251.3(MSH2):c.943-1G>T
|
rs12476364
|
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
|
NM_000251.3(MSH2):c.943-51_988del
|
|
|
|
NM_000251.3(MSH2):c.943-8_943del
|
|
|
|
NM_000251.3(MSH2):c.989T>G (p.Leu330Arg)
|
|
|
|
NM_000251.3(MSH2):c.989dup (p.Asn331fs)
|
rs1114167813
|
|
|
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)
|
rs63750828
|
|
|
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe)
|
rs63750828
|
|
|
NM_000251.3(MSH2):c.999T>G (p.Cys333Trp)
|
rs1553353167
|
|
|
NM_000251.3(MSH2):c.[2635-3C>T;2635-5T>C]
|
|
|
|
NM_000260.4(MYO7A):c.1005_1012delinsTGCCAACAGCCCCTTGCTGCCTCCCCTGATGCTGTGCCCC (p.Arg336fs)
|
|
|
|
NM_000260.4(MYO7A):c.1052C>A (p.Ser351Ter)
|
rs782639389
|
|
|
NM_000260.4(MYO7A):c.1080+1G>C
|
|
|
|
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)
|
rs782279338
|
|
|
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr)
|
rs1297886521
|
|
|
NM_000260.4(MYO7A):c.1200+1G>A
|
rs397516283
|
|
|
NM_000260.4(MYO7A):c.133del
|
rs1591224147
|
|
|
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln)
|
rs1269622956
|
|
|
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val)
|
rs1555069238
|
|
|
NM_000260.4(MYO7A):c.1531G>A (p.Asp511Asn)
|
|
|
|
NM_000260.4(MYO7A):c.178dup (p.His60fs)
|
|
|
|
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT
|
rs1954226902
|
|
|
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
|
rs782063761
|
|
|
NM_000260.4(MYO7A):c.1955G>A (p.Cys652Tyr)
|
|
|
|
NM_000260.4(MYO7A):c.2094+2T>C
|
|
|
|
NM_000260.4(MYO7A):c.2187+2_2187+8del
|
|
|
|
NM_000260.4(MYO7A):c.2339del (p.Gly780fs)
|
rs1565402473
|
|
|
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser)
|
rs781790246
|
|
|
NM_000260.4(MYO7A):c.2569C>T (p.Gln857Ter)
|
rs1555082994
|
|
|
NM_000260.4(MYO7A):c.2764AAG[1] (p.Lys923del)
|
rs1955175992
|
|
|
NM_000260.4(MYO7A):c.285+1G>T
|
|
|
|
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=)
|
rs111033233
|
|
|
NM_000260.4(MYO7A):c.2926_2938del (p.Glu976fs)
|
|
|
|
NM_000260.4(MYO7A):c.3109-2A>G
|
|
|
|
NM_000260.4(MYO7A):c.3136dup (p.Leu1046fs)
|
rs1955319492
|
|
|
NM_000260.4(MYO7A):c.3286-2A>C
|
|
|
|
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter)
|
rs782468194
|
|
|
NM_000260.4(MYO7A):c.338_348dup (p.Glu117fs)
|
rs1064793208
|
|
|
NM_000260.4(MYO7A):c.3503+2T>C
|
|
|
|
NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro)
|
rs1565430886
|
|
|
NM_000260.4(MYO7A):c.3599del (p.Gly1200fs)
|
|
|
|
NM_000260.4(MYO7A):c.3656del (p.Gly1219fs)
|
|
|
|
NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg)
|
rs750358148
|
|
|
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs)
|
rs397516304
|
|
|
NM_000260.4(MYO7A):c.3829del (p.Ala1277fs)
|
rs2135562294
|
|
|
NM_000260.4(MYO7A):c.3880_3881del (p.Lys1294fs)
|
|
|
|
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)
|
rs727503329
|
|
|
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)
|
rs111033403
|
|
|
NM_000260.4(MYO7A):c.397dup (p.His133fs)
|
rs111033187
|
|
|
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg)
|
rs751769391
|
|
|
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer)
|
rs1555100273
|
|
|
NM_000260.4(MYO7A):c.496del (p.Glu166fs)
|
rs111033448
|
|
|
NM_000260.4(MYO7A):c.5127del (p.Lys1710fs)
|
|
|
|
NM_000260.4(MYO7A):c.5143GAG[1] (p.Glu1716del)
|
rs1555102843
|
|
|
NM_000260.4(MYO7A):c.5248del (p.Glu1750fs)
|
|
|
|
NM_000260.4(MYO7A):c.5326+3A>G
|
rs1565469959
|
|
|
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)
|
rs751242455
|
|
|
NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys)
|
rs377267777
|
|
|
NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg)
|
rs746667217
|
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
|
NM_000260.4(MYO7A):c.5856+1G>A
|
|
|
|
NM_000260.4(MYO7A):c.5856+5G>C
|
rs1386887007
|
|
|
NM_000260.4(MYO7A):c.5915G>A (p.Trp1972Ter)
|
|
|
|
NM_000260.4(MYO7A):c.604del (p.Ala202fs)
|
|
|
|
NM_000260.4(MYO7A):c.6079_6081del (p.His2027del)
|
rs1957839812
|
|
|
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg)
|
rs1223784415
|
|
|
NM_000260.4(MYO7A):c.6479G>A (p.Trp2160Ter)
|
|
|
|
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)
|
rs797044512
|
|
|
NM_000260.4(MYO7A):c.721C>G (p.Arg241Gly)
|
|
|
|
NM_000260.4(MYO7A):c.75_76del (p.Ala26fs)
|
|
|
|
NM_000260.4(MYO7A):c.846dup (p.Met283fs)
|
|
|
|
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)
|
rs35689081
|
|
|
NM_000260.4(MYO7A):c.947G>A (p.Trp316Ter)
|
|
|
|
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)
|
rs797044491
|
|
|
NM_000260.4(MYO7A):c.979_985dup (p.Gly329fs)
|
|
|
|
NM_000264.3(PTCH1):c.1779_2195del
|
|
|
|
NM_000264.5(PTCH1):c.1097del (p.Gln365_Leu366insTer)
|
|
|
|
NM_000264.5(PTCH1):c.116_120dup (p.Arg41fs)
|
rs2118908187
|
|
|
NM_000264.5(PTCH1):c.1213G>T (p.Glu405Ter)
|
|
|
|
NM_000264.5(PTCH1):c.1226dup (p.Ser410fs)
|
|
|
|
NM_000264.5(PTCH1):c.1347+1G>A
|
|
|
|
NM_000264.5(PTCH1):c.1347+2T>C
|
rs1841214135
|
|
|
NM_000264.5(PTCH1):c.1418_1432del (p.Gly473_Val477del)
|
rs1554698582
|
|
|
NM_000264.5(PTCH1):c.1460T>G (p.Leu487Arg)
|
rs2118304794
|
|
|
NM_000264.5(PTCH1):c.1496C>G (p.Thr499Arg)
|
|
|
|
NM_000264.5(PTCH1):c.1502A>G (p.Gln501Arg)
|
rs863225054
|
|
|
NM_000264.5(PTCH1):c.1511C>A (p.Pro504Gln)
|
rs1588598694
|
|
|
NM_000264.5(PTCH1):c.1531G>C (p.Gly511Arg)
|
rs1588598613
|
|
|
NM_000264.5(PTCH1):c.1660A>C (p.Ser554Arg)
|
rs1060502282
|
|
|
NM_000264.5(PTCH1):c.1729-2A>G
|
|
|
|
NM_000264.5(PTCH1):c.1737AGT[1] (p.Val582del)
|
rs1588578556
|
|
|
NM_000264.5(PTCH1):c.1737_1745del (p.Val580_Val582del)
|
rs1588578536
|
|
|
NM_000264.5(PTCH1):c.1847G>C (p.Ser616Thr)
|
|
|
|
NM_000264.5(PTCH1):c.1948_1949insAT (p.Phe650fs)
|
|
|
|
NM_000264.5(PTCH1):c.201+1G>T
|
|
|
|
NM_000264.5(PTCH1):c.2021dup (p.Tyr675fs)
|
rs2118045103
|
|
|
NM_000264.5(PTCH1):c.2086dup (p.Thr696fs)
|
|
|
|
NM_000264.5(PTCH1):c.2198C>G (p.Ser733Ter)
|
rs1311804361
|
|
|
NM_000264.5(PTCH1):c.2250+1G>T
|
|
|
|
NM_000264.5(PTCH1):c.2251-1G>A
|
|
|
|
NM_000264.5(PTCH1):c.2251-27_2251-1del
|
|
|
|
NM_000264.5(PTCH1):c.2251-28_2276del
|
rs1564031259
|
|
|
NM_000264.5(PTCH1):c.2251-2A>G
|
rs2117976305
|
|
|
NM_000264.5(PTCH1):c.2286_2287dup (p.Val763fs)
|
|
|
|
NM_000264.5(PTCH1):c.2305_2319del (p.Thr769_Asp773del)
|
|
|
|
NM_000264.5(PTCH1):c.2438_2446dup (p.Pro813_Ile815dup)
|
rs1588568813
|
|
|
NM_000264.5(PTCH1):c.2495T>A (p.Val832Asp)
|
rs786204167
|
|
|
NM_000264.5(PTCH1):c.2530T>C (p.Trp844Arg)
|
rs2117947928
|
|
|
NM_000264.5(PTCH1):c.2531G>C (p.Trp844Ser)
|
rs2117947811
|
|
|
NM_000264.5(PTCH1):c.2702_2703+4del
|
|
|
|
NM_000264.5(PTCH1):c.2703+1G>A
|
|
|
|
NM_000264.5(PTCH1):c.2704-1G>A
|
|
|
|
NM_000264.5(PTCH1):c.2704-1G>T
|
|
|
|
NM_000264.5(PTCH1):c.2704-2A>G
|
|
|
|
NM_000264.5(PTCH1):c.2776T>G (p.Trp926Gly)
|
|
|
|
NM_000264.5(PTCH1):c.2777G>C (p.Trp926Ser)
|
rs2136672063
|
|
|
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)
|
rs1064794260
|
|
|
NM_000264.5(PTCH1):c.2887+1G>A
|
|
|
|
NM_000264.5(PTCH1):c.290_291insG (p.Asn97fs)
|
|
|
|
NM_000264.5(PTCH1):c.290_291insT (p.Cys98fs)
|
|
|
|
NM_000264.5(PTCH1):c.297C>T (p.Gly99=)
|
rs772407797
|
|
|
NM_000264.5(PTCH1):c.3059_3088del (p.Gln1020_Leu1029del)
|
rs1839107392
|
|
|
NM_000264.5(PTCH1):c.3169-1G>A
|
rs1060502285
|
|
|
NM_000264.5(PTCH1):c.317T>G (p.Leu106Arg)
|
rs1131690998
|
|
|
NM_000264.5(PTCH1):c.318_334del (p.Leu107fs)
|
rs2118876177
|
|
|
NM_000264.5(PTCH1):c.3305T>A (p.Leu1102Ter)
|
|
|
|
NM_000264.5(PTCH1):c.3307-115_3339del
|
rs1838664702
|
|
|
NM_000264.5(PTCH1):c.3307-1G>A
|
rs2136632449
|
|
|
NM_000264.5(PTCH1):c.3358del (p.Glu1120fs)
|
|
|
|
NM_000264.5(PTCH1):c.3384del (p.Asp1128fs)
|
rs1838658874
|
|
|
NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro)
|
rs878853856
|
|
|
NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe)
|
rs1588528503
|
|
|
NM_000264.5(PTCH1):c.3487G>C (p.Gly1163Arg)
|
rs113663584
|
|
|
NM_000264.5(PTCH1):c.3488G>T (p.Gly1163Val)
|
rs864622120
|
|
|
NM_000264.5(PTCH1):c.3550-2A>C
|
rs1838244368
|
|
|
NM_000264.5(PTCH1):c.385T>C (p.Trp129Arg)
|
rs2118873547
|
|
|
NM_000264.5(PTCH1):c.3921del (p.Arg1308fs)
|
|
|
|
NM_000264.5(PTCH1):c.407dup (p.Ser137fs)
|
rs1564063386
|
|
|
NM_000264.5(PTCH1):c.559del (p.Arg187fs)
|
|
|
|
NM_000264.5(PTCH1):c.584+1G>A
|
|
|
|
NM_000264.5(PTCH1):c.617C>G (p.Ser206Ter)
|
|
|
|
NM_000264.5(PTCH1):c.655-12_655-11insGGCCTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGAGACTGGATGGTCTGGATCTCGTGTACTCGTGATACTCCCGCCTCTGCCTCCCAAACAGCTGGGATTACAGGCGTGAGCCACTTCGCCCGGCC
|
|
|
|
NM_000264.5(PTCH1):c.655-1G>T
|
|
|
|
NM_000264.5(PTCH1):c.655-2A>G
|
|
|
|
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile)
|
rs1554700630
|
|
|
NM_000264.5(PTCH1):c.709G>A (p.Glu237Lys)
|
rs2118462668
|
|
|
NM_000264.5(PTCH1):c.735dup (p.Ala246fs)
|
|
|
|
NM_000264.5(PTCH1):c.741_746+1del
|
rs1554700574
|
|
|
NM_000264.5(PTCH1):c.747-54_1261del
|
|
|
|
NM_000264.5(PTCH1):c.838G>T (p.Glu280Ter)
|
|
|
|
NM_000264.5(PTCH1):c.910T>C (p.Cys304Arg)
|
|
|
|
NM_000264.5(PTCH1):c.945+2_945+8delinsCGCT
|
rs1588609559
|
|
|
NM_000264.5(PTCH1):c.945+5G>C
|
|
|
|
NM_000267.3(NF1):c.3015_3315-230del
|
|
|
|
NM_000267.3(NF1):c.5944-?_6858+?del
|
|
|
|
NM_000268.4(NF2):c.1000-2A>G
|
|
|
|
NM_000268.4(NF2):c.114+1G>A
|
rs2146661259
|
|
|
NM_000268.4(NF2):c.115-1G>A
|
rs2065657938
|
|
|
NM_000268.4(NF2):c.1192_1193del (p.Leu398fs)
|
|
|
|
NM_000268.4(NF2):c.1193T>C (p.Leu398Pro)
|
rs2147082680
|
|
|
NM_000268.4(NF2):c.1340+1G>C
|
|
|
|
NM_000268.4(NF2):c.1447-147_1447-8del
|
|
|
|
NM_000268.4(NF2):c.1507dup (p.Asp503fs)
|
rs1556002536
|
|
|
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro)
|
rs1556002568
|
|
|
NM_000268.4(NF2):c.1593del (p.Ser532fs)
|
|
|
|
NM_000268.4(NF2):c.1625T>A (p.Leu542His)
|
|
|
|
NM_000268.4(NF2):c.1737+2T>A
|
rs1556003801
|
|
|
NM_000268.4(NF2):c.191T>C (p.Leu64Pro)
|
rs2065661430
|
|
|
NM_000268.4(NF2):c.223_240+8del
|
rs1601579295
|
|
|
NM_000268.4(NF2):c.240+1G>A
|
rs587776562
|
|
|
NM_000268.4(NF2):c.241-1G>C
|
|
|
|
NM_000268.4(NF2):c.285CTT[1] (p.Phe96del)
|
rs121434260
|
|
|
NM_000268.4(NF2):c.354CTT[1] (p.Phe119del)
|
rs1555987732
|
|
|
NM_000268.4(NF2):c.364-2A>G
|
|
|
|
NM_000268.4(NF2):c.465del (p.Ser156fs)
|
rs1555992948
|
|
|
NM_000268.4(NF2):c.560_561del (p.Arg187fs)
|
rs1555993301
|
|
|
NM_000268.4(NF2):c.58_61delinsGT (p.Lys20fs)
|
rs1555978369
|
|
|
NM_000268.4(NF2):c.593_599+317del
|
|
|
|
NM_000268.4(NF2):c.600-2A>G
|
rs1601618501
|
|
|
NM_000268.4(NF2):c.641T>C (p.Leu214Pro)
|
rs1601618585
|
|
|
NM_000268.4(NF2):c.675+1G>A
|
rs1555994854
|
|
|
NM_000268.4(NF2):c.675+1del
|
rs2146990961
|
|
|
NM_000268.4(NF2):c.675+5G>T
|
rs2066373952
|
|
|
NM_000268.4(NF2):c.676-7T>G
|
|
|
|
NM_000268.4(NF2):c.798_799del (p.Tyr266_Ser267delinsTer)
|
|
|
|
NM_000268.4(NF2):c.811-2A>G
|
|
|
|
NM_000278.5(PAX2):c.1109-2A>G
|
|
|
|
NM_000278.5(PAX2):c.148C>T (p.Arg50Trp)
|
rs759356936
|
|
|
NM_000278.5(PAX2):c.169C>T (p.Gln57Ter)
|
|
|
|
NM_000278.5(PAX2):c.212+1G>T
|
|
|
|
NM_000278.5(PAX2):c.220del (p.Glu74fs)
|
rs1589813539
|
|
|
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup)
|
rs387906530
|
|
|
NM_000278.5(PAX2):c.226G>A (p.Gly76Ser)
|
rs79555199
|
|
|
NM_000278.5(PAX2):c.226G>C (p.Gly76Arg)
|
rs79555199
|
|
|
NM_000278.5(PAX2):c.227G>A (p.Gly76Asp)
|
|
|
|
NM_000278.5(PAX2):c.239C>T (p.Pro80Leu)
|
rs1554856032
|
|
|
NM_000278.5(PAX2):c.311_317dup (p.Asn106fs)
|
|
|
|
NM_000278.5(PAX2):c.344G>C (p.Arg115Pro)
|
|
|
|
NM_000278.5(PAX2):c.361_373dup (p.Asp125delinsGlyGlyHisLeuTer)
|
|
|
|
NM_000278.5(PAX2):c.389C>G (p.Pro130Arg)
|
|
|
|
NM_000278.5(PAX2):c.419G>T (p.Arg140Leu)
|
rs865906227
|
|
|
NM_000278.5(PAX2):c.44-2A>G
|
|
|
|
NM_000278.5(PAX2):c.483del (p.Gly162fs)
|
rs2133894273
|
|
|
NM_000278.5(PAX2):c.495del (p.Ile165fs)
|
|
|
|
NM_000278.5(PAX2):c.535_546delinsT (p.Asn179fs)
|
|
|
|
NM_000278.5(PAX2):c.70G>A (p.Gly24Arg)
|
rs1845366198
|
|
|
NM_000278.5(PAX2):c.70G>C (p.Gly24Arg)
|
rs1845366198
|
|
|
NM_000278.5(PAX2):c.70G>T (p.Gly24Trp)
|
rs1845366198
|
|
|
NM_000278.5(PAX2):c.71G>T (p.Gly24Val)
|
|
|
|
NM_000278.5(PAX2):c.791del (p.Gln264fs)
|
rs2133950639
|
|
|
NM_000278.5(PAX2):c.793-1G>A
|
|
|
|
NM_000278.5(PAX2):c.841_845del (p.Lys281fs)
|
rs2133956255
|
|
|
NM_000278.5(PAX2):c.845C>A (p.Ser282Ter)
|
|
|
|
NM_000278.5(PAX2):c.871G>T (p.Glu291Ter)
|
|
|
|
NM_000278.5(PAX2):c.952del (p.Tyr318fs)
|
|
|
|
NM_000278.5(PAX2):c.961delinsTA (p.His321Ter)
|
|
|
|
NM_000297.4(PKD2):c.1026del (p.Glu343fs)
|
|
|
|
NM_000297.4(PKD2):c.1033T>A (p.Tyr345Asn)
|
rs1485588385
|
|
|
NM_000297.4(PKD2):c.1034A>G (p.Tyr345Cys)
|
|
|
|
NM_000297.4(PKD2):c.1094+1G>T
|
|
|
|
NM_000297.4(PKD2):c.1094+1del
|
rs2110107353
|
|
|
NM_000297.4(PKD2):c.1094+3_1094+6del
|
rs1553925470
|
|
|
NM_000297.4(PKD2):c.1095-1G>T
|
|
|
|
NM_000297.4(PKD2):c.1098del (p.Ala365_Trp366insTer)
|
|
|
|
NM_000297.4(PKD2):c.1103A>G (p.Tyr368Cys)
|
rs2110112018
|
|
|
NM_000297.4(PKD2):c.1116del (p.Asp373fs)
|
|
|
|
NM_000297.4(PKD2):c.1116dup (p.Asp373fs)
|
rs2110112037
|
|
|
NM_000297.4(PKD2):c.111_117delinsGG (p.Ser39fs)
|
rs1726227364
|
|
|
NM_000297.4(PKD2):c.1128TAG[1] (p.Ser378del)
|
|
|
|
NM_000297.4(PKD2):c.1231_1239dup (p.Val413_Trp414insLysAsnVal)
|
|
|
|
NM_000297.4(PKD2):c.1256C>T (p.Thr419Ile)
|
|
|
|
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)
|
rs886041114
|
|
|
NM_000297.4(PKD2):c.1390del (p.Arg464fs)
|
rs1727786451
|
|
|
NM_000297.4(PKD2):c.1548+1G>A
|
rs752024467
|
|
|
NM_000297.4(PKD2):c.1549-1G>A
|
rs1720121027
|
|
|
NM_000297.4(PKD2):c.1549-2A>T
|
|
|
|
NM_000297.4(PKD2):c.1623_1626del (p.Asp541fs)
|
rs1560617356
|
|
|
NM_000297.4(PKD2):c.1645dup (p.Glu549fs)
|
|
|
|
NM_000297.4(PKD2):c.1709G>A (p.Trp570Ter)
|
|
|
|
NM_000297.4(PKD2):c.1716+1G>A
|
|
|
|
NM_000297.4(PKD2):c.1717-3C>G
|
|
|
|
NM_000297.4(PKD2):c.1775G>C (p.Arg592Pro)
|
|
|
|
NM_000297.4(PKD2):c.1807dup (p.Met603fs)
|
rs1578141765
|
|
|
NM_000297.4(PKD2):c.182_206dup (p.Ala71fs)
|
|
|
|
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter)
|
rs2110127334
|
|
|
NM_000297.4(PKD2):c.1843G>A (p.Ala615Thr)
|
|
|
|
NM_000297.4(PKD2):c.1984A>C (p.Thr662Pro)
|
|
|
|
NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile)
|
rs1720430638
|
|
|
NM_000297.4(PKD2):c.2019+1G>C
|
|
|
|
NM_000297.4(PKD2):c.2019+5G>A
|
rs1578142944
|
|
|
NM_000297.4(PKD2):c.2019G>A (p.Leu673=)
|
|
|
|
NM_000297.4(PKD2):c.2020-2A>G
|
|
|
|
NM_000297.4(PKD2):c.2020-5A>G
|
rs2110133917
|
|
|
NM_000297.4(PKD2):c.2062A>G (p.Lys688Glu)
|
rs2110134005
|
|
|
NM_000297.4(PKD2):c.2074del (p.Ala692fs)
|
|
|
|
NM_000297.4(PKD2):c.2115_2118del (p.Lys706fs)
|
|
|
|
NM_000297.4(PKD2):c.2118+2T>C
|
|
|
|
NM_000297.4(PKD2):c.2119-1G>T
|
|
|
|
NM_000297.4(PKD2):c.2178dup (p.Glu727fs)
|
|
|
|
NM_000297.4(PKD2):c.2241-2A>G
|
rs1560626499
|
|
|
NM_000297.4(PKD2):c.2241-2_2241-1insTT
|
|
|
|
NM_000297.4(PKD2):c.2241-6_2243del
|
|
|
|
NM_000297.4(PKD2):c.2247_2248insA (p.His750fs)
|
|
|
|
NM_000297.4(PKD2):c.2351_2354del (p.Lys784fs)
|
|
|
|
NM_000297.4(PKD2):c.2358+5G>A
|
rs1720774022
|
|
|
NM_000297.4(PKD2):c.2387T>G (p.Leu796Ter)
|
|
|
|
NM_000297.4(PKD2):c.2522+1G>A
|
|
|
|
NM_000297.4(PKD2):c.2522+1G>T
|
|
|
|
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro)
|
rs1578153598
|
|
|
NM_000297.4(PKD2):c.2638del (p.Val880fs)
|
|
|
|
NM_000297.4(PKD2):c.2649del (p.Arg883fs)
|
|
|
|
NM_000297.4(PKD2):c.2662del (p.Val888fs)
|
|
|
|
NM_000297.4(PKD2):c.2670+5G>A
|
|
|
|
NM_000297.4(PKD2):c.2671-2A>G
|
|
|
|
NM_000297.4(PKD2):c.2814del (p.Gln938fs)
|
|
|
|
NM_000297.4(PKD2):c.295G>T (p.Glu99Ter)
|
rs1578111378
|
|
|
NM_000297.4(PKD2):c.41del (p.Asp14fs)
|
rs1474473957
|
|
|
NM_000297.4(PKD2):c.478C>T (p.Gln160Ter)
|
|
|
|
NM_000297.4(PKD2):c.481_502del (p.Gly161fs)
|
rs1553923513
|
|
|
NM_000297.4(PKD2):c.635_647del (p.Asn212fs)
|
|
|
|
NM_000297.4(PKD2):c.690del (p.Leu231fs)
|
|
|
|
NM_000297.4(PKD2):c.691dup (p.Leu231fs)
|
rs1553924174
|
|
|
NM_000297.4(PKD2):c.693del (p.Leu231_Ile232insTer)
|
rs1578118371
|
|
|
NM_000297.4(PKD2):c.709+1G>A
|
rs398123308
|
|
|
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro)
|
rs2110104859
|
|
|
NM_000297.4(PKD2):c.783dup (p.Val262fs)
|
rs2110104877
|
|
|
NM_000297.4(PKD2):c.843G>A (p.Lys281=)
|
rs1727333486
|
|
|
NM_000297.4(PKD2):c.844-1G>A
|
|
|
|
NM_000297.4(PKD2):c.860T>C (p.Leu287Ser)
|
rs1727413505
|
|
|
NM_000297.4(PKD2):c.875A>G (p.Tyr292Cys)
|
rs1560608538
|
|
|
NM_000297.4(PKD2):c.950G>A (p.Gly317Glu)
|
rs2110107072
|
|
|
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln)
|
rs1727420867
|
|
|
NM_000297.4(PKD2):c.982_984del (p.Asn328del)
|
rs1727421192
|
|
|
NM_000297.4(PKD2):c.992G>A (p.Cys331Tyr)
|
rs1578130536
|
|
|
NM_000313.4(PROS1):c.1085A>G (p.Gln362Arg)
|
|
|
|
NM_000313.4(PROS1):c.1337T>C (p.Leu446Pro)
|
rs2107137626
|
|
|
NM_000313.4(PROS1):c.1454A>C (p.Tyr485Ser)
|
rs1323663956
|
|
|
NM_000313.4(PROS1):c.1459G>C (p.Gly487Arg)
|
|
|
|
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)
|
rs121918472
|
|
|
NM_000313.4(PROS1):c.154G>C (p.Gly52Arg)
|
rs2107202922
|
|
|
NM_000313.4(PROS1):c.1862G>T (p.Gly621Val)
|
rs2107124949
|
|
|
NM_000313.4(PROS1):c.1904T>C (p.Phe635Ser)
|
rs2107120174
|
|
|
NM_000313.4(PROS1):c.1972_1974dup (p.His658_Asn659insHis)
|
|
|
|
NM_000313.4(PROS1):c.301C>T (p.Arg101Cys)
|
|
|
|
NM_000313.4(PROS1):c.346+1G>T
|
|
|
|
NM_000313.4(PROS1):c.346+2T>A
|
|
|
|
NM_000313.4(PROS1):c.447G>T (p.Trp149Cys)
|
|
|
|
NM_000313.4(PROS1):c.49dup (p.Leu17fs)
|
rs1575904540
|
|
|
NM_000313.4(PROS1):c.557G>A (p.Cys186Tyr)
|
rs779391826
|
|
|
NM_000313.4(PROS1):c.595T>C (p.Cys199Arg)
|
rs2107170811
|
|
|
NM_000313.4(PROS1):c.601+1G>A
|
rs1708665916
|
|
|
NM_000313.4(PROS1):c.684C>G (p.Cys228Trp)
|
|
|
|
NM_000313.4(PROS1):c.728-1G>A
|
rs368074804
|
|
|
NM_000313.4(PROS1):c.766T>A (p.Cys256Ser)
|
rs1576182848
|
|
|
NM_000313.4(PROS1):c.769_770del (p.Val257fs)
|
|
|
|
NM_000313.4(PROS1):c.832G>T (p.Asp278Tyr)
|
|
|
|
NM_000313.4(PROS1):c.849G>A (p.Glu283=)
|
|
|
|
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs)
|
rs587776672
|
|
|
NM_000314.6(PTEN):c.866_867insGA (p.Val290Lysfs)
|
rs1564568303
|
|
|
NM_000314.8(PTEN):c.-1_22del (p.Met1fs)
|
|
|
|
NM_000314.8(PTEN):c.1004G>A (p.Arg335Gln)
|
rs1085308040
|
|
|
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.1023del (p.Phe341fs)
|
rs1564568689
|
|
|
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.1026G>T (p.Lys342Asn)
|
rs398123314
|
|
|
NM_000314.8(PTEN):c.1027-11_1028del
|
|
|
|
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.1029_1039del (p.Lys344fs)
|
rs1064796236
|
|
|
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg)
|
rs1554826024
|
|
|
NM_000314.8(PTEN):c.103A>C (p.Met35Leu)
|
rs876659443
|
|
|
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.105G>A (p.Met35Ile)
|
rs1554893782
|
|
|
NM_000314.8(PTEN):c.105G>T (p.Met35Ile)
|
|
|
|
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.106G>C (p.Gly36Arg)
|
rs786204854
|
|
|
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu)
|
rs1554893792
|
|
|
NM_000314.8(PTEN):c.1116_1119del (p.Glu373fs)
|
rs1554826049
|
|
|
NM_000314.8(PTEN):c.1137_1140del (p.Arg378_Tyr379insTer)
|
rs2132289978
|
|
|
NM_000314.8(PTEN):c.1139del (p.Ser380fs)
|
rs2132289992
|
|
|
NM_000314.8(PTEN):c.1168G>T (p.Glu390Ter)
|
rs2132290171
|
|
|
NM_000314.8(PTEN):c.126_164+5del
|
|
|
|
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys)
|
rs1057518425
|
|
|
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.149T>C (p.Ile50Thr)
|
rs1554893824
|
|
|
NM_000314.8(PTEN):c.14T>C (p.Ile5Thr)
|
|
|
|
NM_000314.8(PTEN):c.152ATG[1] (p.Asp52del)
|
rs1589617371
|
|
|
NM_000314.8(PTEN):c.154_164+1delinsAATATTGTTAATAA
|
|
|
|
NM_000314.8(PTEN):c.156_164+4delinsCAT
|
|
|
|
NM_000314.8(PTEN):c.165-17_165del
|
rs1554897240
|
|
|
NM_000314.8(PTEN):c.165-1G>A
|
rs786203847
|
|
|
NM_000314.8(PTEN):c.165-36_195del
|
|
|
|
NM_000314.8(PTEN):c.165-9T>A
|
rs878853934
|
|
|
NM_000314.8(PTEN):c.170T>G (p.Leu57Trp)
|
rs786202398
|
|
|
NM_000314.8(PTEN):c.181C>G (p.His61Asp)
|
rs121909236
|
|
|
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.198G>T (p.Lys66Asn)
|
rs2132232321
|
|
|
NM_000314.8(PTEN):c.1A>G (p.Met1Val)
|
rs1554890324
|
|
|
NM_000314.8(PTEN):c.1A>T (p.Met1Leu)
|
|
|
|
NM_000314.8(PTEN):c.200T>G (p.Ile67Arg)
|
|
|
|
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.202T>G (p.Tyr68Asp)
|
rs398123317
|
|
|
NM_000314.8(PTEN):c.203A>C (p.Tyr68Ser)
|
rs876660634
|
|
|
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys)
|
rs876660634
|
|
|
NM_000314.8(PTEN):c.209+1G>A
|
rs1554897280
|
|
|
NM_000314.8(PTEN):c.209+2047A>G
|
|
|
|
NM_000314.8(PTEN):c.209+2T>C
|
rs878853937
|
|
|
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro)
|
rs121909226
|
|
|
NM_000314.8(PTEN):c.210-12C>G
|
|
|
|
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.210-2A>G
|
rs1564828914
|
|
|
NM_000314.8(PTEN):c.210-6_210-2del
|
rs1564828909
|
|
|
NM_000314.8(PTEN):c.210-7_220del
|
|
|
|
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr)
|
rs1554897856
|
|
|
NM_000314.8(PTEN):c.227_228del (p.His75_Tyr76insTer)
|
|
|
|
NM_000314.8(PTEN):c.253+1dup
|
rs876660082
|
|
|
NM_000314.8(PTEN):c.253+5G>A
|
rs1554897889
|
|
|
NM_000314.8(PTEN):c.253+5G>C
|
rs1554897889
|
|
|
NM_000314.8(PTEN):c.253+5G>T
|
rs1554897889
|
|
|
NM_000314.8(PTEN):c.254-19_326del
|
|
|
|
NM_000314.8(PTEN):c.254-1G>A
|
rs1057520208
|
|
|
NM_000314.8(PTEN):c.254-1del
|
rs2132241961
|
|
|
NM_000314.8(PTEN):c.263_264del (p.Tyr88fs)
|
rs1859964600
|
|
|
NM_000314.8(PTEN):c.270dup (p.Glu91Ter)
|
rs1114167678
|
|
|
NM_000314.8(PTEN):c.271_279del (p.Glu91_His93del)
|
|
|
|
NM_000314.8(PTEN):c.274G>T (p.Asp92Tyr)
|
rs1554898067
|
|
|
NM_000314.8(PTEN):c.276C>G (p.Asp92Glu)
|
rs779530981
|
|
|
NM_000314.8(PTEN):c.277C>G (p.His93Asp)
|
rs786204927
|
|
|
NM_000314.8(PTEN):c.277C>T (p.His93Tyr)
|
rs786204927
|
|
|
NM_000314.8(PTEN):c.278A>C (p.His93Pro)
|
rs121909238
|
|
|
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.287C>T (p.Pro96Leu)
|
rs1554898074
|
|
|
NM_000314.8(PTEN):c.296_297insTA (p.Glu99fs)
|
|
|
|
NM_000314.8(PTEN):c.2T>G (p.Met1Arg)
|
|
|
|
NM_000314.8(PTEN):c.300dup (p.Ile101fs)
|
rs1554898083
|
|
|
NM_000314.8(PTEN):c.302T>A (p.Ile101Asn)
|
rs1339631701
|
|
|
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)
|
rs1339631701
|
|
|
NM_000314.8(PTEN):c.304_308dup (p.Phe104fs)
|
rs1554898085
|
|
|
NM_000314.8(PTEN):c.313T>C (p.Cys105Arg)
|
|
|
|
NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr)
|
rs587782343
|
|
|
NM_000314.8(PTEN):c.319G>T (p.Asp107Tyr)
|
rs57374291
|
|
|
NM_000314.8(PTEN):c.323T>G (p.Leu108Arg)
|
|
|
|
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg)
|
rs398123321
|
|
|
NM_000314.8(PTEN):c.334C>G (p.Leu112Val)
|
rs2132242699
|
|
|
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly)
|
rs869312775
|
|
|
NM_000314.8(PTEN):c.35A>T (p.Asn12Ile)
|
rs1085308044
|
|
|
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>G (p.His123Asp)
|
rs786204931
|
|
|
NM_000314.8(PTEN):c.367C>T (p.His123Tyr)
|
rs786204931
|
|
|
NM_000314.8(PTEN):c.370T>A (p.Cys124Ser)
|
rs121909223
|
|
|
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.374A>G (p.Lys125Arg)
|
|
|
|
NM_000314.8(PTEN):c.376G>A (p.Ala126Thr)
|
rs1554898129
|
|
|
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.37A>C (p.Lys13Gln)
|
rs1554890348
|
|
|
NM_000314.8(PTEN):c.37A>G (p.Lys13Glu)
|
rs1554890348
|
|
|
NM_000314.8(PTEN):c.382A>G (p.Lys128Glu)
|
rs1554898138
|
|
|
NM_000314.8(PTEN):c.384G>C (p.Lys128Asn)
|
rs1114167645
|
|
|
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.39_40del (p.Arg14fs)
|
rs587776671
|
|
|
NM_000314.8(PTEN):c.3_27del (p.Met1fs)
|
rs2132145338
|
|
|
NM_000314.8(PTEN):c.401T>C (p.Met134Thr)
|
rs1085308046
|
|
|
NM_000314.8(PTEN):c.402G>C (p.Met134Ile)
|
rs1114167676
|
|
|
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.408T>G (p.Cys136Trp)
|
rs869312776
|
|
|
NM_000314.8(PTEN):c.40A>G (p.Arg14Gly)
|
rs1085308047
|
|
|
NM_000314.8(PTEN):c.422A>C (p.His141Pro)
|
rs863224666
|
|
|
NM_000314.8(PTEN):c.422A>T (p.His141Leu)
|
|
|
|
NM_000314.8(PTEN):c.423del (p.Arg142fs)
|
rs1859979785
|
|
|
NM_000314.8(PTEN):c.424C>T (p.Arg142Trp)
|
rs746152219
|
|
|
NM_000314.8(PTEN):c.430A>T (p.Lys144Ter)
|
rs1057520622
|
|
|
NM_000314.8(PTEN):c.441_442delinsA (p.Ala148fs)
|
rs1114167641
|
|
|
NM_000314.8(PTEN):c.449A>G (p.Glu150Gly)
|
rs1554898193
|
|
|
NM_000314.8(PTEN):c.44G>A (p.Arg15Lys)
|
rs398123324
|
|
|
NM_000314.8(PTEN):c.44G>C (p.Arg15Thr)
|
rs398123324
|
|
|
NM_000314.8(PTEN):c.461_492+7del
|
|
|
|
NM_000314.8(PTEN):c.463T>C (p.Tyr155His)
|
rs398123325
|
|
|
NM_000314.8(PTEN):c.464A>C (p.Tyr155Ser)
|
rs1060500126
|
|
|
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)
|
rs1060500126
|
|
|
NM_000314.8(PTEN):c.471del (p.Glu157_Val158insTer)
|
|
|
|
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly)
|
rs786202688
|
|
|
NM_000314.8(PTEN):c.476G>A (p.Arg159Lys)
|
rs1114167673
|
|
|
NM_000314.8(PTEN):c.477G>T (p.Arg159Ser)
|
rs1057519724
|
|
|
NM_000314.8(PTEN):c.486C>G (p.Asp162Glu)
|
rs869312777
|
|
|
NM_000314.8(PTEN):c.492+1G>A
|
rs1554898242
|
|
|
NM_000314.8(PTEN):c.492+1G>T
|
rs1554898242
|
|
|
NM_000314.8(PTEN):c.492+1_492+5del
|
rs1554898238
|
|
|
NM_000314.8(PTEN):c.492+2T>G
|
rs1554898244
|
|
|
NM_000314.8(PTEN):c.492+2del
|
rs1060500124
|
|
|
NM_000314.8(PTEN):c.492_492+1delinsA
|
|
|
|
NM_000314.8(PTEN):c.493-1G>T
|
rs786204862
|
|
|
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.49C>G (p.Gln17Glu)
|
rs786204910
|
|
|
NM_000314.8(PTEN):c.500C>A (p.Thr167Asn)
|
rs397514559
|
|
|
NM_000314.8(PTEN):c.509G>A (p.Ser170Asn)
|
rs876660507
|
|
|
NM_000314.8(PTEN):c.50_79+23del
|
|
|
|
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)
|
rs786204865
|
|
|
NM_000314.8(PTEN):c.520T>A (p.Tyr174Asn)
|
rs587782316
|
|
|
NM_000314.8(PTEN):c.520T>C (p.Tyr174His)
|
|
|
|
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys)
|
rs864622341
|
|
|
NM_000314.8(PTEN):c.522T>G (p.Tyr174Ter)
|
rs786201867
|
|
|
NM_000314.8(PTEN):c.529T>C (p.Tyr177His)
|
rs1860418425
|
|
|
NM_000314.8(PTEN):c.533A>G (p.Tyr178Cys)
|
rs786204866
|
|
|
NM_000314.8(PTEN):c.542T>C (p.Leu181Pro)
|
rs1589659492
|
|
|
NM_000314.8(PTEN):c.564T>A (p.Tyr188Ter)
|
rs606231170
|
|
|
NM_000314.8(PTEN):c.593T>A (p.Met198Lys)
|
rs1554900635
|
|
|
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser)
|
rs786204867
|
|
|
NM_000314.8(PTEN):c.59G>T (p.Gly20Val)
|
rs1064795967
|
|
|
NM_000314.8(PTEN):c.634+5G>C
|
rs138336847
|
|
|
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.64G>C (p.Asp22His)
|
rs876660420
|
|
|
NM_000314.8(PTEN):c.67T>G (p.Leu23Val)
|
rs876661244
|
|
|
NM_000314.8(PTEN):c.696del (p.Arg233fs)
|
rs587776669
|
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
|
NM_000314.8(PTEN):c.70G>C (p.Asp24His)
|
rs786201995
|
|
|
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)
|
rs797044910
|
|
|
NM_000314.8(PTEN):c.71A>T (p.Asp24Val)
|
rs797044910
|
|
|
NM_000314.8(PTEN):c.721_786del (p.Phe241_Asn262del)
|
|
|
|
NM_000314.8(PTEN):c.722T>C (p.Phe241Ser)
|
rs121909240
|
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
|
NM_000314.8(PTEN):c.739_740insAAT (p.Leu247Ter)
|
|
|
|
NM_000314.8(PTEN):c.739_740insAT (p.Leu247fs)
|
rs786204902
|
|
|
NM_000314.8(PTEN):c.740T>C (p.Leu247Ser)
|
rs1057519368
|
|
|
NM_000314.8(PTEN):c.746T>G (p.Val249Gly)
|
rs2132277407
|
|
|
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly)
|
rs121909239
|
|
|
NM_000314.8(PTEN):c.755A>T (p.Asp252Val)
|
rs121909239
|
|
|
NM_000314.8(PTEN):c.761_765del (p.Lys254fs)
|
rs606231169
|
|
|
NM_000314.8(PTEN):c.764T>G (p.Val255Gly)
|
|
|
|
NM_000314.8(PTEN):c.765_766insTTC (p.Val255_Glu256insPhe)
|
rs2132277565
|
|
|
NM_000314.8(PTEN):c.77C>A (p.Thr26Asn)
|
rs786204853
|
|
|
NM_000314.8(PTEN):c.79+1G>A
|
|
|
|
NM_000314.8(PTEN):c.79+1G>C
|
rs2132146122
|
|
|
NM_000314.8(PTEN):c.79+2_79+4delinsACA
|
|
|
|
NM_000314.8(PTEN):c.79T>A (p.Tyr27Asn)
|
rs746128825
|
|
|
NM_000314.8(PTEN):c.80-1G>C
|
rs786204914
|
|
|
NM_000314.8(PTEN):c.80-1_80del
|
rs1554893747
|
|
|
NM_000314.8(PTEN):c.80-2A>C
|
rs2132187034
|
|
|
NM_000314.8(PTEN):c.801+1G>A
|
rs786204873
|
|
|
NM_000314.8(PTEN):c.801+1del
|
rs1060500110
|
|
|
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn)
|
rs1554825266
|
|
|
NM_000314.8(PTEN):c.802-1G>A
|
rs1257124719
|
|
|
NM_000314.8(PTEN):c.802-2_816del
|
|
|
|
NM_000314.8(PTEN):c.802-2del
|
rs886047397
|
|
|
NM_000314.8(PTEN):c.802-37_815del
|
|
|
|
NM_000314.8(PTEN):c.802-4_804delinsA
|
rs1064792911
|
|
|
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.823del (p.Trp274_Val275insTer)
|
rs1860617439
|
|
|
NM_000314.8(PTEN):c.827A>T (p.Asn276Ile)
|
rs1860618095
|
|
|
NM_000314.8(PTEN):c.830C>G (p.Thr277Arg)
|
rs398123329
|
|
|
NM_000314.8(PTEN):c.830C>T (p.Thr277Ile)
|
rs398123329
|
|
|
NM_000314.8(PTEN):c.83T>C (p.Ile28Thr)
|
rs1355570425
|
|
|
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)
|
rs863224909
|
|
|
NM_000314.8(PTEN):c.865_866insCT (p.Lys289fs)
|
rs1554825530
|
|
|
NM_000314.8(PTEN):c.884_900delinsG (p.Leu295fs)
|
rs1114167680
|
|
|
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter)
|
rs1589665853
|
|
|
NM_000314.8(PTEN):c.898del (p.Ile300fs)
|
rs2132282499
|
|
|
NM_000314.8(PTEN):c.916dup (p.Ile306fs)
|
rs1860625934
|
|
|
NM_000314.8(PTEN):c.91A>G (p.Asn31Asp)
|
rs1859093459
|
|
|
NM_000314.8(PTEN):c.929A>G (p.Asp310Gly)
|
rs1564568473
|
|
|
NM_000314.8(PTEN):c.947T>C (p.Leu316Pro)
|
rs1064793345
|
|
|
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del)
|
rs1554893765
|
|
|
NM_000314.8(PTEN):c.959T>C (p.Leu320Ser)
|
rs1114167667
|
|
|
NM_000314.8(PTEN):c.964A>T (p.Lys322Ter)
|
rs786202004
|
|
|
NM_000314.8(PTEN):c.966_996del (p.Asn323fs)
|
rs2132283188
|
|
|
NM_000314.8(PTEN):c.967_968dup (p.Asn323fs)
|
rs121913291
|
|
|
NM_000314.8(PTEN):c.968dup (p.Asn323fs)
|
rs121913291
|
|
|
NM_000314.8(PTEN):c.972_977del (p.Leu325_Asp326del)
|
rs1860630372
|
|
|
NM_000314.8(PTEN):c.975_988delinsCGCTT (p.Asp326_Lys330delinsAlaTer)
|
rs1114167640
|
|
|
NM_000314.8(PTEN):c.977A>G (p.Asp326Gly)
|
rs1860631246
|
|
|
NM_000314.8(PTEN):c.98T>C (p.Ile33Thr)
|
rs1554893771
|
|
|
NM_000321.3(RB1):c.273T>A (p.Tyr91Ter)
|
rs750136284
|
|
|
NM_000329.3(RPE65):c.1088C>T (p.Pro363Leu)
|
|
|
|
NM_000329.3(RPE65):c.1244-1G>A
|
|
|
|
NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)
|
|
|
|
NM_000329.3(RPE65):c.1338+1G>A
|
rs1057518922
|
|
|
NM_000329.3(RPE65):c.1416del (p.Phe472fs)
|
|
|
|
NM_000329.3(RPE65):c.143G>A (p.Gly48Glu)
|
rs2100831413
|
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
|
NM_000329.3(RPE65):c.246-11A>G
|
rs905365719
|
|
|
NM_000329.3(RPE65):c.304G>A (p.Glu102Lys)
|
rs62642584
|
|
|
NM_000329.3(RPE65):c.41_42del (p.Lys14fs)
|
|
|
|
NM_000329.3(RPE65):c.540C>A (p.His180Gln)
|
|
|
|
NM_000329.3(RPE65):c.61del (p.Glu21fs)
|
rs758550330
|
|
|
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)
|
rs192907397
|
|
|
NM_000329.3(RPE65):c.726-2A>T
|
rs878853372
|
|
|
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)
|
rs1169420841
|
|
|
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln)
|
rs121912755
|
|
|
NM_000342.4(SLC4A1):c.1242del (p.Phe414fs)
|
|
|
|
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)
|
rs121912745
|
|
|
NM_000342.4(SLC4A1):c.1816G>A (p.Gly606Arg)
|
|
|
|
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg)
|
rs878853002
|
|
|
NM_000342.4(SLC4A1):c.2188C>T (p.Arg730Cys)
|
rs770569237
|
|
|
NM_000342.4(SLC4A1):c.2260C>T (p.Gln754Ter)
|
rs2144601189
|
|
|
NM_000342.4(SLC4A1):c.2453A>G (p.Tyr818Cys)
|
|
|
|
NM_000342.4(SLC4A1):c.2712C>G (p.Tyr904Ter)
|
|
|
|
NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter)
|
rs199694087
|
|
|
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr)
|
rs2047328405
|
|
|
NM_000342.4(SLC4A1):c.349+1G>C
|
|
|
|
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)
|
rs61749423
|
|
|
NM_000368.5(TSC1):c.1005dup (p.Arg336fs)
|
rs2131975092
|
|
|
NM_000368.5(TSC1):c.1013_1019del (p.Ile338fs)
|
rs1554817344
|
|
|
NM_000368.5(TSC1):c.1029+3A>G
|
rs1554817334
|
|
|
NM_000368.5(TSC1):c.1033del (p.Thr345fs)
|
rs1564488264
|
|
|
NM_000368.5(TSC1):c.106+2T>C
|
rs1554820976
|
|
|
NM_000368.5(TSC1):c.1098_1105dup (p.Leu369fs)
|
|
|
|
NM_000368.5(TSC1):c.1138_1141+1del
|
|
|
|
NM_000368.5(TSC1):c.1141+1G>A
|
rs397514819
|
|
|
NM_000368.5(TSC1):c.1141+3A>G
|
|
|
|
NM_000368.5(TSC1):c.1156del (p.Thr386fs)
|
rs2131946983
|
|
|
NM_000368.5(TSC1):c.1229C>A (p.Ser410Ter)
|
|
|
|
NM_000368.5(TSC1):c.125T>A (p.Val42Glu)
|
rs1846926218
|
|
|
NM_000368.5(TSC1):c.1264-1G>A
|
rs1554816432
|
|
|
NM_000368.5(TSC1):c.1309dup (p.His437fs)
|
|
|
|
NM_000368.5(TSC1):c.1324A>T (p.Arg442Ter)
|
rs1845724649
|
|
|
NM_000368.5(TSC1):c.1334-30_1344del
|
|
|
|
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser)
|
rs1554820662
|
|
|
NM_000368.5(TSC1):c.1439-1G>A
|
rs397514804
|
|
|
NM_000368.5(TSC1):c.1439-1G>C
|
rs397514804
|
|
|
NM_000368.5(TSC1):c.1439-2A>G
|
rs118203531
|
|
|
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)
|
rs118203537
|
|
|
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)
|
rs118203542
|
|
|
NM_000368.5(TSC1):c.1531dup (p.Ser511fs)
|
rs1845652182
|
|
|
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)
|
rs118203549
|
|
|
NM_000368.5(TSC1):c.1698_1704delinsGC (p.Ala567fs)
|
rs1554815914
|
|
|
NM_000368.5(TSC1):c.1782_1786del (p.Gly595fs)
|
rs1554815828
|
|
|
NM_000368.5(TSC1):c.1798C>T (p.Gln600Ter)
|
|
|
|
NM_000368.5(TSC1):c.182T>G (p.Leu61Arg)
|
rs118203345
|
|
|
NM_000368.5(TSC1):c.1831del (p.Ala611fs)
|
|
|
|
NM_000368.5(TSC1):c.1934del (p.Pro645fs)
|
|
|
|
NM_000368.5(TSC1):c.1996A>T (p.Lys666Ter)
|
rs1845604585
|
|
|
NM_000368.5(TSC1):c.1997+1G>A
|
rs118203610
|
|
|
NM_000368.5(TSC1):c.1997+2T>C
|
|
|
|
NM_000368.5(TSC1):c.1998-2A>G
|
rs1057518217
|
|
|
NM_000368.5(TSC1):c.2022dup (p.Asp675fs)
|
|
|
|
NM_000368.5(TSC1):c.2042-177_2266del
|
|
|
|
NM_000368.5(TSC1):c.2042-5A>G
|
rs118203627
|
|
|
NM_000368.5(TSC1):c.2082del (p.Gln694fs)
|
rs118203632
|
|
|
NM_000368.5(TSC1):c.2129_2132dup (p.His712fs)
|
|
|
|
NM_000368.5(TSC1):c.215T>C (p.Leu72Pro)
|
rs118203354
|
|
|
NM_000368.5(TSC1):c.2208+2T>A
|
rs1064794132
|
|
|
NM_000368.5(TSC1):c.2209-2A>G
|
|
|
|
NM_000368.5(TSC1):c.2242del (p.Gln748fs)
|
|
|
|
NM_000368.5(TSC1):c.2269G>T (p.Glu757Ter)
|
rs1057519319
|
|
|
NM_000368.5(TSC1):c.2271_2280del (p.Glu757fs)
|
|
|
|
NM_000368.5(TSC1):c.232G>T (p.Glu78Ter)
|
rs1588355838
|
|
|
NM_000368.5(TSC1):c.2391+1G>C
|
rs1060503224
|
|
|
NM_000368.5(TSC1):c.2391+1G>T
|
|
|
|
NM_000368.5(TSC1):c.2392-1G>T
|
|
|
|
NM_000368.5(TSC1):c.2392-1del
|
rs2131710574
|
|
|
NM_000368.5(TSC1):c.2392-2A>G
|
|
|
|
NM_000368.5(TSC1):c.2392-6_2398del
|
|
|
|
NM_000368.5(TSC1):c.2405dup (p.Asp802fs)
|
|
|
|
NM_000368.5(TSC1):c.2497C>T (p.Gln833Ter)
|
rs118203700
|
|
|
NM_000368.5(TSC1):c.2502+1G>A
|
|
|
|
NM_000368.5(TSC1):c.2502+1G>T
|
|
|
|
NM_000368.5(TSC1):c.2502+2_2502+9del
|
rs1588298866
|
|
|
NM_000368.5(TSC1):c.2665G>T (p.Glu889Ter)
|
|
|
|
NM_000368.5(TSC1):c.278T>A (p.Leu93Gln)
|
rs118203363
|
|
|
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter)
|
rs118203735
|
|
|
NM_000368.5(TSC1):c.2813+2T>G
|
rs1845135533
|
|
|
NM_000368.5(TSC1):c.2814-1G>A
|
|
|
|
NM_000368.5(TSC1):c.2814-2A>G
|
rs1588290111
|
|
|
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter)
|
rs1588290078
|
|
|
NM_000368.5(TSC1):c.301_302dup (p.Ser102fs)
|
|
|
|
NM_000368.5(TSC1):c.338_343del (p.Leu113_Pro114del)
|
|
|
|
NM_000368.5(TSC1):c.350T>C (p.Leu117Pro)
|
rs118203368
|
|
|
NM_000368.5(TSC1):c.362A>T (p.Lys121Met)
|
rs118203369
|
|
|
NM_000368.5(TSC1):c.363+1G>T
|
rs118203372
|
|
|
NM_000368.5(TSC1):c.363+2_363+5del
|
rs1846806279
|
|
|
NM_000368.5(TSC1):c.363+5G>C
|
rs118203374
|
|
|
NM_000368.5(TSC1):c.364-2A>G
|
rs1846685279
|
|
|
NM_000368.5(TSC1):c.375CGT[1] (p.Val128del)
|
|
|
|
NM_000368.5(TSC1):c.378_379insCGT (p.Val126_Val127insArg)
|
rs1846682853
|
|
|
NM_000368.5(TSC1):c.381_383del (p.Val128del)
|
rs118203378
|
|
|
NM_000368.5(TSC1):c.385_399dup (p.Leu134_Val135insThrThrGlyValLeu)
|
|
|
|
NM_000368.5(TSC1):c.395G>A (p.Gly132Asp)
|
rs397514784
|
|
|
NM_000368.5(TSC1):c.508+2T>C
|
rs2132185885
|
|
|
NM_000368.5(TSC1):c.509-1G>A
|
rs1554819620
|
|
|
NM_000368.5(TSC1):c.509-1G>C
|
rs1554819620
|
|
|
NM_000368.5(TSC1):c.542A>C (p.His181Pro)
|
rs397515294
|
|
|
NM_000368.5(TSC1):c.562T>G (p.Phe188Val)
|
|
|
|
NM_000368.5(TSC1):c.572T>A (p.Leu191His)
|
rs118203403
|
|
|
NM_000368.5(TSC1):c.651_663dup (p.Pro222fs)
|
rs1554819509
|
|
|
NM_000368.5(TSC1):c.663+1G>A
|
rs118203419
|
|
|
NM_000368.5(TSC1):c.663+2T>C
|
|
|
|
NM_000368.5(TSC1):c.664-15A>G
|
rs118203422
|
|
|
NM_000368.5(TSC1):c.664-1G>A
|
rs118203423
|
|
|
NM_000368.5(TSC1):c.671T>G (p.Met224Arg)
|
rs118203426
|
|
|
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)
|
rs118203434
|
|
|
NM_000368.5(TSC1):c.737+3A>G
|
rs118203439
|
|
|
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys)
|
rs118203436
|
|
|
NM_000368.5(TSC1):c.737G>T (p.Arg246Met)
|
|
|
|
NM_000368.5(TSC1):c.738-2_740del
|
rs1554817707
|
|
|
NM_000368.5(TSC1):c.769_776del (p.Ile257fs)
|
rs1554817676
|
|
|
NM_000368.5(TSC1):c.846del (p.Ala283fs)
|
rs1846010451
|
|
|
NM_000368.5(TSC1):c.901_913+1del
|
rs118203465
|
|
|
NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter)
|
rs118203466
|
|
|
NM_000368.5(TSC1):c.982C>T (p.Gln328Ter)
|
rs1554817388
|
|
|
NM_000388.4(CASR):c.101T>C (p.Leu34Pro)
|
rs1559955362
|
|
|
NM_000388.4(CASR):c.1183T>C (p.Cys395Arg)
|
rs1057517712
|
|
|
NM_000388.4(CASR):c.1377+1G>A
|
|
|
|
NM_000388.4(CASR):c.1377+1G>T
|
rs2074639464
|
|
|
NM_000388.4(CASR):c.1378-1G>C
|
rs2074810403
|
|
|
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln)
|
rs104893716
|
|
|
NM_000388.4(CASR):c.1466A>G (p.Tyr489Cys)
|
rs1553768108
|
|
|
NM_000388.4(CASR):c.1525G>C (p.Gly509Arg)
|
rs193922423
|
|
|
NM_000388.4(CASR):c.1608+1G>A
|
|
|
|
NM_000388.4(CASR):c.1608+2T>C
|
|
|
|
NM_000388.4(CASR):c.1609-2A>G
|
rs761084315
|
|
|
NM_000388.4(CASR):c.1652G>A (p.Arg551Lys)
|
rs1060502861
|
|
|
NM_000388.4(CASR):c.1661T>C (p.Ile554Thr)
|
rs2074897929
|
|
|
NM_000388.4(CASR):c.1670G>A (p.Gly557Glu)
|
rs1576875835
|
|
|
NM_000388.4(CASR):c.1685G>T (p.Cys562Phe)
|
|
|
|
NM_000388.4(CASR):c.1742C>T (p.Ala581Val)
|
|
|
|
NM_000388.4(CASR):c.1744T>A (p.Cys582Ser)
|
rs2074920676
|
|
|
NM_000388.4(CASR):c.1838G>A (p.Gly613Glu)
|
|
|
|
NM_000388.4(CASR):c.185+1G>A
|
|
|
|
NM_000388.4(CASR):c.196C>T (p.Arg66Cys)
|
rs121909266
|
|
|
NM_000388.4(CASR):c.2111T>C (p.Leu704Pro)
|
rs1559968657
|
|
|
NM_000388.4(CASR):c.2203C>A (p.Gln735Lys)
|
rs1553769052
|
|
|
NM_000388.4(CASR):c.2299G>A (p.Glu767Lys)
|
rs2074935748
|
|
|
NM_000388.4(CASR):c.2431A>G (p.Met811Val)
|
rs1057521129
|
|
|
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)
|
rs1057518933
|
|
|
NM_000388.4(CASR):c.2506G>T (p.Val836Leu)
|
rs2107650629
|
|
|
NM_000388.4(CASR):c.2516T>A (p.Ile839Asn)
|
rs2107650645
|
|
|
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)
|
rs104893706
|
|
|
NM_000388.4(CASR):c.2641T>C (p.Phe881Leu)
|
rs104893704
|
|
|
NM_000388.4(CASR):c.372C>G (p.Asn124Lys)
|
|
|
|
NM_000388.4(CASR):c.379G>A (p.Glu127Lys)
|
rs2074565202
|
|
|
NM_000388.4(CASR):c.395C>A (p.Ser132Ter)
|
|
|
|
NM_000388.4(CASR):c.413C>T (p.Thr138Met)
|
rs121909263
|
|
|
NM_000388.4(CASR):c.492+2T>C
|
|
|
|
NM_000388.4(CASR):c.493-1G>A
|
|
|
|
NM_000388.4(CASR):c.493-2A>C
|
rs1576857818
|
|
|
NM_000388.4(CASR):c.493-2A>G
|
rs1576857818
|
|
|
NM_000388.4(CASR):c.494T>G (p.Val165Gly)
|
rs1559958757
|
|
|
NM_000388.4(CASR):c.571G>A (p.Glu191Lys)
|
rs104893697
|
|
|
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)
|
rs2074624616
|
|
|
NM_000388.4(CASR):c.659G>A (p.Arg220Gln)
|
rs1202110240
|
|
|
NM_000388.4(CASR):c.721G>A (p.Glu241Lys)
|
rs2107632158
|
|
|
NM_000388.4(CASR):c.856C>T (p.Arg286Cys)
|
rs1060502843
|
|
|
NM_000388.4(CASR):c.897G>A (p.Trp299Ter)
|
|
|
|
NM_000393.5(COL5A2):c.1159-1G>A
|
|
|
|
NM_000393.5(COL5A2):c.1186G>C (p.Gly396Arg)
|
rs1686209873
|
|
|
NM_000393.5(COL5A2):c.1302+1G>A
|
|
|
|
NM_000393.5(COL5A2):c.1502G>A (p.Gly501Asp)
|
|
|
|
NM_000393.5(COL5A2):c.1907G>C (p.Gly636Ala)
|
|
|
|
NM_000393.5(COL5A2):c.1924-11T>C
|
|
|
|
NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg)
|
rs1559085564
|
|
|
NM_000393.5(COL5A2):c.1977+1G>A
|
rs1576502045
|
|
|
NM_000393.5(COL5A2):c.2031+1G>A
|
|
|
|
NM_000393.5(COL5A2):c.2130+1G>A
|
rs2105579086
|
|
|
NM_000393.5(COL5A2):c.2285G>A (p.Gly762Asp)
|
|
|
|
NM_000393.5(COL5A2):c.2553+1G>T
|
|
|
|
NM_000393.5(COL5A2):c.2562C>A (p.Asp854Glu)
|
rs148430780
|
|
|
NM_000393.5(COL5A2):c.2833G>A (p.Gly945Arg)
|
rs1685785467
|
|
|
NM_000393.5(COL5A2):c.3230del (p.Gly1077fs)
|
|
|
|
NM_000393.5(COL5A2):c.3248G>A (p.Gly1083Asp)
|
rs1559076883
|
|
|
NM_000393.5(COL5A2):c.3309+1G>A
|
rs1553513657
|
|
|
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=)
|
rs878853978
|
|
|
NM_000393.5(COL5A2):c.3363+1G>T
|
|
|
|
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser)
|
rs747946828
|
|
|
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg)
|
rs121912930
|
|
|
NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg)
|
rs1685586746
|
|
|
NM_000393.5(COL5A2):c.369+1G>T
|
rs1559104199
|
|
|
NM_000393.5(COL5A2):c.568-316_3525+41del
|
|
|
|
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys)
|
rs1553517323
|
|
|
NM_000393.5(COL5A2):c.98-1G>T
|
rs2105712615
|
|
|
NM_000421.5(KRT10):c.1307T>C (p.Leu436Pro)
|
|
|
|
NM_000421.5(KRT10):c.1374-1G>A
|
|
|
|
NM_000421.5(KRT10):c.470T>G (p.Leu157Arg)
|
|
|
|
NM_000421.5(KRT10):c.546T>A (p.Tyr182Ter)
|
|
|
|
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)
|
rs146281367
|
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
|
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)
|
rs111033305
|
|
|
NM_000441.2(SLC26A4):c.1264-3C>G
|
rs1562835391
|
|
|
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)
|
rs768471577
|
|
|
NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter)
|
rs1562817529
|
|
|
NM_000441.2(SLC26A4):c.413T>A (p.Val138Asp)
|
rs1790890770
|
|
|
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)
|
rs756272252
|
|
|
NM_000441.2(SLC26A4):c.42del (p.Glu15fs)
|
rs1562817224
|
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
|
NM_000441.2(SLC26A4):c.71G>T (p.Arg24Leu)
|
rs1349370504
|
|
|
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)
|
rs886041227
|
|
|
NM_000447.3(PSEN2):c.886+2_886+4del
|
rs1553268799
|
|
|
NM_000455.5(STK11):c.291-2_374+91del
|
rs2145420502
|
|
|
NM_000459.5(TEK):c.2491G>T (p.Gly831Trp)
|
|
|
|
NM_000459.5(TEK):c.2678A>T (p.Glu893Val)
|
rs1825511679
|
|
|
NM_000459.5(TEK):c.2689T>A (p.Tyr897Asn)
|
rs2131227936
|
|
|
NM_000459.5(TEK):c.2750G>T (p.Ser917Ile)
|
|
|
|
NM_000459.5(TEK):c.2752C>T (p.Arg918Cys)
|
rs1825683100
|
|
|
NM_000459.5(TEK):c.3323_3324insCGTGAATACCACGCTTTATGAGAAGTAGTA (p.Tyr1108_Glu1109insValAsnThrThrLeuTyrGluLysTer)
|
|
|
|
NM_000465.4(BARD1):c.1314+1G>A
|
rs753785671
|
|
|
NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter)
|
rs1553619721
|
|
|
NM_000465.4(BARD1):c.159-1G>A
|
rs879254139
|
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
|
NM_000465.4(BARD1):c.1811-1G>A
|
rs879253952
|
|
|
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)
|
rs587780024
|
|
|
NM_000465.4(BARD1):c.2203C>T (p.Gln735Ter)
|
|
|
|
NM_000465.4(BARD1):c.518dup (p.Ser174fs)
|
rs1574821103
|
|
|
NM_000484.4(APP):c.2059A>C (p.Lys687Gln)
|
|
|
|
NM_000484.4(APP):c.2061A>C (p.Lys687Asn)
|
|
|
|
NM_000484.4(APP):c.2138C>A (p.Ala713Glu)
|
|
|
|
NM_000484.4(APP):c.2155A>C (p.Thr719Pro)
|
rs2146237857
|
|
|
NM_000490.5(AVP):c.120+1G>A
|
|
|
|
NM_000490.5(AVP):c.131G>T (p.Cys44Phe)
|
rs1057516192
|
|
|
NM_000490.5(AVP):c.229GAG[1] (p.Glu78del)
|
rs2066119604
|
|
|
NM_000490.5(AVP):c.262G>T (p.Gly88Cys)
|
rs121964882
|
|
|
NM_000490.5(AVP):c.287G>A (p.Gly96Asp)
|
|
|
|
NM_000490.5(AVP):c.290G>A (p.Arg97His)
|
|
|
|
NM_000490.5(AVP):c.328T>A (p.Cys110Ser)
|
|
|
|
NM_000494.4(COL17A1):c.1179del (p.Ala394fs)
|
rs531930614
|
|
|
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)
|
rs199621188
|
|
|
NM_000501.4(ELN):c.166del (p.Leu56fs)
|
rs2131266202
|
|
|
NM_000501.4(ELN):c.2151del (p.Ala718fs)
|
rs2132828209
|
|
|
NM_000501.4(ELN):c.2161del (p.Arg721fs)
|
rs794729201
|
|
|
NM_000501.4(ELN):c.800-1G>A
|
rs2131847938
|
|
|
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter)
|
rs1554615511
|
|
|
NM_000503.6(EYA1):c.1050+2del
|
|
|
|
NM_000503.6(EYA1):c.1075_1076del (p.Gly359fs)
|
|
|
|
NM_000503.6(EYA1):c.1077_1078insT (p.Leu360fs)
|
|
|
|
NM_000503.6(EYA1):c.1106T>A (p.Leu369Ter)
|
|
|
|
NM_000503.6(EYA1):c.1137del (p.Glu380fs)
|
|
|
|
NM_000503.6(EYA1):c.1141-2A>G
|
|
|
|
NM_000503.6(EYA1):c.1163del (p.Asp388fs)
|
|
|
|
NM_000503.6(EYA1):c.1199+2T>A
|
rs2128854556
|
|
|
NM_000503.6(EYA1):c.1277dup (p.Gly427fs)
|
|
|
|
NM_000503.6(EYA1):c.1309C>T (p.Arg437Cys)
|
|
|
|
NM_000503.6(EYA1):c.1361-1G>A
|
rs397517917
|
|
|
NM_000503.6(EYA1):c.1361-2A>C
|
|
|
|
NM_000503.6(EYA1):c.1361-2A>G
|
rs2128851194
|
|
|
NM_000503.6(EYA1):c.1426_1427del (p.Asp476fs)
|
|
|
|
NM_000503.6(EYA1):c.1448T>C (p.Leu483Pro)
|
|
|
|
NM_000503.6(EYA1):c.1457T>G (p.Leu486Arg)
|
|
|
|
NM_000503.6(EYA1):c.1460C>A (p.Ser487Ter)
|
rs139717960
|
|
|
NM_000503.6(EYA1):c.1496T>G (p.Leu499Ter)
|
|
|
|
NM_000503.6(EYA1):c.1597+1G>A
|
rs1563630117
|
|
|
NM_000503.6(EYA1):c.1597+1G>T
|
|
|
|
NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter)
|
rs1060499603
|
|
|
NM_000503.6(EYA1):c.1620_1652dup (p.Tyr551Ter)
|
|
|
|
NM_000503.6(EYA1):c.1632del (p.Arg544fs)
|
|
|
|
NM_000503.6(EYA1):c.1673_1698+20del
|
|
|
|
NM_000503.6(EYA1):c.1678G>T (p.Glu560Ter)
|
|
|
|
NM_000503.6(EYA1):c.1713_1716del (p.Phe571fs)
|
|
|
|
NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg)
|
rs1585717154
|
|
|
NM_000503.6(EYA1):c.1744del (p.Ala582fs)
|
|
|
|
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)
|
rs397517920
|
|
|
NM_000503.6(EYA1):c.1758_1775dup (p.Leu592_Ter593insLeuGluLeuGluTyrLeu)
|
|
|
|
NM_000503.6(EYA1):c.1761G>C (p.Leu587Phe)
|
|
|
|
NM_000503.6(EYA1):c.372del (p.Ala123_Tyr124insTer)
|
|
|
|
NM_000503.6(EYA1):c.419-2A>G
|
|
|
|
NM_000503.6(EYA1):c.466del (p.Gln156fs)
|
|
|
|
NM_000503.6(EYA1):c.520C>T (p.Gln174Ter)
|
|
|
|
NM_000503.6(EYA1):c.557-1G>A
|
|
|
|
NM_000503.6(EYA1):c.578C>G (p.Ser193Ter)
|
|
|
|
NM_000503.6(EYA1):c.645T>G (p.Tyr215Ter)
|
|
|
|
NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs)
|
rs1586244371
|
|
|
NM_000503.6(EYA1):c.775C>T (p.Gln259Ter)
|
rs2128999627
|
|
|
NM_000503.6(EYA1):c.826+1G>A
|
|
|
|
NM_000503.6(EYA1):c.966+1G>C
|
rs2128951565
|
|
|
NM_000503.6(EYA1):c.966+2_966+13del
|
|
|
|
NM_000503.6(EYA1):c.979T>C (p.Trp327Arg)
|
rs2128948223
|
|
|
NM_000522.5(HOXA13):c.360_377dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAla)
|
rs35861510
|
|
|
NM_000522.5(HOXA13):c.423_424delinsA (p.Ala142fs)
|
|
|
|
NM_000522.5(HOXA13):c.730C>T (p.Gln244Ter)
|
|
|
|
NM_000522.5(HOXA13):c.741dup (p.Gly248fs)
|
|
|
|
NM_000522.5(HOXA13):c.837G>A (p.Trp279Ter)
|
|
|
|
NM_000522.5(HOXA13):c.869A>C (p.Tyr290Ser)
|
|
|
|
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)
|
rs1571820317
|
|
|
NM_000530.8(MPZ):c.178G>C (p.Asp60His)
|
rs121913604
|
|
|
NM_000530.8(MPZ):c.190_192del (p.Phe64del)
|
rs1571819975
|
|
|
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)
|
rs1571819964
|
|
|
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)
|
rs281865124
|
|
|
NM_000530.8(MPZ):c.277G>A (p.Gly93Arg)
|
rs1553259691
|
|
|
NM_000530.8(MPZ):c.279G>T (p.Gly93=)
|
|
|
|
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg)
|
rs1060503423
|
|
|
NM_000530.8(MPZ):c.303G>T (p.Trp101Cys)
|
rs1558154149
|
|
|
NM_000530.8(MPZ):c.306del (p.Asp104fs)
|
rs281865125
|
|
|
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe)
|
rs1553259663
|
|
|
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)
|
rs879254038
|
|
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595
|
|
|
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)
|
rs1553259648
|
|
|
NM_000530.8(MPZ):c.398C>G (p.Pro133Arg)
|
rs1558154010
|
|
|
NM_000530.8(MPZ):c.398C>T (p.Pro133Leu)
|
rs1558154010
|
|
|
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn)
|
rs1553259647
|
|
|
NM_000530.8(MPZ):c.403A>T (p.Ile135Leu)
|
rs879253858
|
|
|
NM_000530.8(MPZ):c.448+1G>A
|
|
|
|
NM_000530.8(MPZ):c.449-2A>G
|
rs2102258343
|
|
|
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)
|
rs754068936
|
|
|
NM_000530.8(MPZ):c.585-2A>G
|
|
|
|
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)
|
rs1571817146
|
|
|
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)
|
rs755446743
|
|
|
NM_000530.8(MPZ):c.73_74delinsA (p.Ser25fs)
|
|
|
|
NM_000535.6(PMS2):c.1145-?_2174+?dup1030
|
|
|
|
NM_000535.6(PMS2):c.2007-?_2174+?del
|
|
|
|
NM_000535.7(PMS2):c.1053del (p.Leu351fs)
|
rs1554298756
|
|
|
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs)
|
rs1583334346
|
|
|
NM_000535.7(PMS2):c.1112A>T (p.Asn371Ile)
|
rs1783517960
|
|
|
NM_000535.7(PMS2):c.1119_1122del (p.Gln374fs)
|
rs757679199
|
|
|
NM_000535.7(PMS2):c.1144+1G>C
|
rs373885654
|
|
|
NM_000535.7(PMS2):c.1144+1G>T
|
rs373885654
|
|
|
NM_000535.7(PMS2):c.1144+1del
|
rs2128746842
|
|
|
NM_000535.7(PMS2):c.1144+2T>A
|
rs267608158
|
|
|
NM_000535.7(PMS2):c.1144+2T>G
|
|
|
|
NM_000535.7(PMS2):c.1145-2A>G
|
rs1325835006
|
|
|
NM_000535.7(PMS2):c.1151T>A (p.Leu384Ter)
|
|
|
|
NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)
|
|
|
|
NM_000535.7(PMS2):c.1231G>T (p.Glu411Ter)
|
|
|
|
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)
|
rs863224676
|
|
|
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
|
|
|
|
NM_000535.7(PMS2):c.1281del (p.His428fs)
|
rs1783147885
|
|
|
NM_000535.7(PMS2):c.1332del (p.Ser445fs)
|
rs1554297877
|
|
|
NM_000535.7(PMS2):c.1336_1402del (p.Ser445_Pro446insTer)
|
rs1562633331
|
|
|
NM_000535.7(PMS2):c.1351del (p.Arg451fs)
|
rs1562634268
|
|
|
NM_000535.7(PMS2):c.1366del (p.Ser456fs)
|
rs1583320992
|
|
|
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)
|
rs121434629
|
|
|
NM_000535.7(PMS2):c.13dup (p.Glu5fs)
|
|
|
|
NM_000535.7(PMS2):c.1418_1419del (p.Glu473fs)
|
rs1783098862
|
|
|
NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)
|
|
|
|
NM_000535.7(PMS2):c.155dup (p.Thr52_Asn53insTer)
|
|
|
|
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
|
|
|
|
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer)
|
rs1554306288
|
|
|
NM_000535.7(PMS2):c.163+1G>A
|
rs1064795705
|
|
|
NM_000535.7(PMS2):c.163+1G>T
|
rs1064795705
|
|
|
NM_000535.7(PMS2):c.163+2T>C
|
rs587779329
|
|
|
NM_000535.7(PMS2):c.163+5G>C
|
|
|
|
NM_000535.7(PMS2):c.1634_1635del (p.Ser545fs)
|
rs753256070
|
|
|
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)
|
rs863224498
|
|
|
NM_000535.7(PMS2):c.1639dup (p.Ser547fs)
|
rs863224498
|
|
|
NM_000535.7(PMS2):c.164-1G>C
|
rs763308607
|
|
|
NM_000535.7(PMS2):c.164-1G>T
|
|
|
|
NM_000535.7(PMS2):c.164-2A>C
|
|
|
|
NM_000535.7(PMS2):c.164-2A>G
|
rs587779324
|
|
|
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter)
|
rs876659162
|
|
|
NM_000535.7(PMS2):c.1666del (p.Glu556fs)
|
|
|
|
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
|
|
|
|
NM_000535.7(PMS2):c.1709dup (p.Asn570fs)
|
rs1783004175
|
|
|
NM_000535.7(PMS2):c.1721del (p.Pro574fs)
|
rs1583316404
|
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
|
NM_000535.7(PMS2):c.1778del (p.Lys593fs)
|
rs766389591
|
|
|
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)
|
rs63750456
|
|
|
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)
|
rs1064793426
|
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
|
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs)
|
rs756358866
|
|
|
NM_000535.7(PMS2):c.1882_1886dup (p.Lys630fs)
|
|
|
|
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)
|
rs1554297125
|
|
|
NM_000535.7(PMS2):c.1938del (p.Lys647fs)
|
rs2128720948
|
|
|
NM_000535.7(PMS2):c.1970del (p.Asn657fs)
|
rs1064794566
|
|
|
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)
|
rs869320619
|
|
|
NM_000535.7(PMS2):c.2006+1G>A
|
rs1554297040
|
|
|
NM_000535.7(PMS2):c.2006_2006+4del
|
rs771928911
|
|
|
NM_000535.7(PMS2):c.2007-1G>A
|
rs267608170
|
|
|
NM_000535.7(PMS2):c.2007-1G>C
|
|
|
|
NM_000535.7(PMS2):c.2007-1_2009del
|
|
|
|
NM_000535.7(PMS2):c.2007-2A>G
|
rs587782336
|
|
|
NM_000535.7(PMS2):c.2007-4_2007-1delinsACAC
|
rs1562616355
|
|
|
NM_000535.7(PMS2):c.2029G>T (p.Glu677Ter)
|
|
|
|
NM_000535.7(PMS2):c.2039G>A (p.Gly680Asp)
|
|
|
|
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)
|
rs587781317
|
|
|
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
|
|
|
|
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)
|
rs876659900
|
|
|
NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs)
|
rs1785419483
|
|
|
NM_000535.7(PMS2):c.2174+1G>C
|
rs267608172
|
|
|
NM_000535.7(PMS2):c.2174+1G>T
|
|
|
|
NM_000535.7(PMS2):c.2175-1G>A
|
|
|
|
NM_000535.7(PMS2):c.2175-1G>C
|
rs1562605623
|
|
|
NM_000535.7(PMS2):c.2175-2A>G
|
|
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
|
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg)
|
rs1554304979
|
|
|
NM_000535.7(PMS2):c.2212_2213del (p.Val738fs)
|
|
|
|
NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)
|
|
|
|
NM_000535.7(PMS2):c.2233del (p.Ile745fs)
|
|
|
|
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys)
|
rs200824831
|
|
|
NM_000535.7(PMS2):c.2247T>G (p.Asn749Lys)
|
|
|
|
NM_000535.7(PMS2):c.2275+1G>A
|
rs1554294393
|
|
|
NM_000535.7(PMS2):c.2275+1G>C
|
rs1554294393
|
|
|
NM_000535.7(PMS2):c.2275+1G>T
|
rs1554294393
|
|
|
NM_000535.7(PMS2):c.2275+2T>C
|
rs1562604682
|
|
|
NM_000535.7(PMS2):c.2276-2A>C
|
rs1554294019
|
|
|
NM_000535.7(PMS2):c.23+1G>A
|
rs587782074
|
|
|
NM_000535.7(PMS2):c.23+21_23+28del
|
rs1554308880
|
|
|
NM_000535.7(PMS2):c.2324dup (p.Asn775fs)
|
|
|
|
NM_000535.7(PMS2):c.2350del (p.Asp784fs)
|
|
|
|
NM_000535.7(PMS2):c.236_239del (p.Asn79fs)
|
|
|
|
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs)
|
rs2128672594
|
|
|
NM_000535.7(PMS2):c.24-12_107delinsAAAT
|
rs1554306445
|
|
|
NM_000535.7(PMS2):c.24-1G>A
|
rs1785723689
|
|
|
NM_000535.7(PMS2):c.24-5_26del
|
|
|
|
NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter)
|
rs2128672286
|
|
|
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)
|
rs730881919
|
|
|
NM_000535.7(PMS2):c.2445+1G>A
|
rs876661113
|
|
|
NM_000535.7(PMS2):c.2445+1G>C
|
rs876661113
|
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
|
|
NM_000535.7(PMS2):c.2465T>C (p.Leu822Pro)
|
rs587781636
|
|
|
NM_000535.7(PMS2):c.2489T>C (p.Leu830Pro)
|
rs1781502574
|
|
|
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)
|
rs587781626
|
|
|
NM_000535.7(PMS2):c.2501T>C (p.Met834Thr)
|
|
|
|
NM_000535.7(PMS2):c.2506del (p.Glu836fs)
|
rs2128658092
|
|
|
NM_000535.7(PMS2):c.251-1G>C
|
|
|
|
NM_000535.7(PMS2):c.251-1G>T
|
rs764171734
|
|
|
NM_000535.7(PMS2):c.251-2A>C
|
rs587779340
|
|
|
NM_000535.7(PMS2):c.251-2A>G
|
rs587779340
|
|
|
NM_000535.7(PMS2):c.2528G>C (p.Cys843Ser)
|
|
|
|
NM_000535.7(PMS2):c.2529del (p.His845fs)
|
|
|
|
NM_000535.7(PMS2):c.2531C>A (p.Pro844His)
|
rs587782787
|
|
|
NM_000535.7(PMS2):c.2533del (p.His845fs)
|
rs1064796500
|
|
|
NM_000535.7(PMS2):c.2534A>G (p.His845Arg)
|
rs1554292741
|
|
|
NM_000535.7(PMS2):c.2534A>T (p.His845Leu)
|
rs1554292741
|
|
|
NM_000535.7(PMS2):c.2534del (p.His845fs)
|
|
|
|
NM_000535.7(PMS2):c.2535T>G (p.His845Gln)
|
|
|
|
NM_000535.7(PMS2):c.2549T>G (p.Met850Arg)
|
rs1781486223
|
|
|
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)
|
rs1554304745
|
|
|
NM_000535.7(PMS2):c.288dup (p.Asp97fs)
|
|
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
|
NM_000535.7(PMS2):c.304G>T (p.Glu102Ter)
|
|
|
|
NM_000535.7(PMS2):c.304del (p.Glu102fs)
|
|
|
|
NM_000535.7(PMS2):c.353+1G>A
|
rs113517055
|
|
|
NM_000535.7(PMS2):c.353+2T>C
|
rs111466480
|
|
|
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)
|
rs1394474494
|
|
|
NM_000535.7(PMS2):c.354-1G>A
|
rs786203954
|
|
|
NM_000535.7(PMS2):c.354-2A>G
|
rs786202098
|
|
|
NM_000535.7(PMS2):c.452_457delinsCCCCC (p.Arg151fs)
|
|
|
|
NM_000535.7(PMS2):c.457del (p.Arg153fs)
|
rs1785207289
|
|
|
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)
|
rs1785199575
|
|
|
NM_000535.7(PMS2):c.503dup (p.Arg169fs)
|
|
|
|
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter)
|
rs1221485925
|
|
|
NM_000535.7(PMS2):c.535A>T (p.Lys179Ter)
|
rs1554303861
|
|
|
NM_000535.7(PMS2):c.537+1G>A
|
rs863224450
|
|
|
NM_000535.7(PMS2):c.537+1del
|
rs1064793868
|
|
|
NM_000535.7(PMS2):c.538-1G>A
|
rs988423880
|
|
|
NM_000535.7(PMS2):c.538-2A>C
|
rs758304323
|
|
|
NM_000535.7(PMS2):c.538-2A>T
|
|
|
|
NM_000535.7(PMS2):c.538-65_589delinsGCAACATCCAATTGGT
|
|
|
|
NM_000535.7(PMS2):c.538G>T (p.Glu180Ter)
|
|
|
|
NM_000535.7(PMS2):c.559dup (p.Val187fs)
|
|
|
|
NM_000535.7(PMS2):c.564dup (p.His189fs)
|
|
|
|
NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)
|
|
|
|
NM_000535.7(PMS2):c.63_75del (p.Ser22fs)
|
|
|
|
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs)
|
rs1784802468
|
|
|
NM_000535.7(PMS2):c.678_681dup (p.Gly228fs)
|
rs1562677687
|
|
|
NM_000535.7(PMS2):c.705+1G>A
|
rs267608147
|
|
|
NM_000535.7(PMS2):c.705+1G>T
|
rs267608147
|
|
|
NM_000535.7(PMS2):c.705+2T>C
|
rs1784783734
|
|
|
NM_000535.7(PMS2):c.706-1G>C
|
|
|
|
NM_000535.7(PMS2):c.706-1G>T
|
|
|
|
NM_000535.7(PMS2):c.706-2A>T
|
rs745487791
|
|
|
NM_000535.7(PMS2):c.733_741delinsGCTGTGCTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer)
|
rs1554301495
|
|
|
NM_000535.7(PMS2):c.741del (p.Ser248fs)
|
rs1583374709
|
|
|
NM_000535.7(PMS2):c.746_753del (p.Asp249fs)
|
rs587782710
|
|
|
NM_000535.7(PMS2):c.746_755del (p.Asp249fs)
|
|
|
|
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs1064794905
|
|
|
NM_000535.7(PMS2):c.778_781del (p.Ser260fs)
|
|
|
|
NM_000535.7(PMS2):c.790_803+5del
|
|
|
|
NM_000535.7(PMS2):c.793_803+7del
|
|
|
|
NM_000535.7(PMS2):c.79del (p.Cys27fs)
|
|
|
|
NM_000535.7(PMS2):c.802del (p.Tyr268fs)
|
rs267608149
|
|
|
NM_000535.7(PMS2):c.803+1G>A
|
rs1562669585
|
|
|
NM_000535.7(PMS2):c.803+1G>T
|
rs1562669585
|
|
|
NM_000535.7(PMS2):c.803+2T>G
|
|
|
|
NM_000535.7(PMS2):c.803+5G>A
|
rs939641251
|
|
|
NM_000535.7(PMS2):c.804-10T>G
|
rs267608151
|
|
|
NM_000535.7(PMS2):c.804-11A>G
|
|
|
|
NM_000535.7(PMS2):c.804-1G>A
|
rs1562664845
|
|
|
NM_000535.7(PMS2):c.804-1G>C
|
|
|
|
NM_000535.7(PMS2):c.804-1G>T
|
|
|
|
NM_000535.7(PMS2):c.832dup (p.His278fs)
|
|
|
|
NM_000535.7(PMS2):c.841G>T (p.Gly281Ter)
|
|
|
|
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer)
|
rs876658964
|
|
|
NM_000535.7(PMS2):c.860dup (p.Gln288fs)
|
rs2128775362
|
|
|
NM_000535.7(PMS2):c.873del (p.Phe291fs)
|
rs1261282733
|
|
|
NM_000535.7(PMS2):c.903+1G>A
|
rs1554300689
|
|
|
NM_000535.7(PMS2):c.903+1G>C
|
rs1554300689
|
|
|
NM_000535.7(PMS2):c.903+1G>T
|
rs1554300689
|
|
|
NM_000535.7(PMS2):c.903+2T>C
|
rs878854059
|
|
|
NM_000535.7(PMS2):c.903G>A (p.Lys301=)
|
rs267608153
|
|
|
NM_000535.7(PMS2):c.903G>C (p.Lys301Asn)
|
|
|
|
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)
|
rs267608153
|
|
|
NM_000535.7(PMS2):c.904-1G>A
|
rs779064342
|
|
|
NM_000535.7(PMS2):c.904-2A>C
|
rs587781339
|
|
|
NM_000535.7(PMS2):c.904-2A>G
|
rs587781339
|
|
|
NM_000535.7(PMS2):c.917T>A (p.Val306Glu)
|
rs786201878
|
|
|
NM_000535.7(PMS2):c.939T>A (p.Tyr313Ter)
|
rs1562651617
|
|
|
NM_000535.7(PMS2):c.947dup (p.His316fs)
|
|
|
|
NM_000535.7(PMS2):c.988+1G>C
|
rs757110564
|
|
|
NM_000535.7(PMS2):c.988+1G>T
|
rs757110564
|
|
|
NM_000535.7(PMS2):c.988+2T>C
|
|
|
|
NM_000535.7(PMS2):c.989-1G>C
|
|
|
|
NM_000535.7(PMS2):c.989-2A>G
|
rs587779347
|
|
|
NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)
|
|
|
|
NM_000535.7:c.(1144+1_1145-1)_(2174+1_2175-1)dup
|
|
|
|
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)
|
rs118192180
|
|
|
NM_000546.6(TP53):c.1000G>A (p.Gly334Arg)
|
rs730882028
|
|
|
NM_000546.6(TP53):c.1000G>T (p.Gly334Trp)
|
rs730882028
|
|
|
NM_000546.6(TP53):c.1001_1006dup (p.Arg335_Glu336insGlyArg)
|
|
|
|
NM_000546.6(TP53):c.1006G>T (p.Glu336Ter)
|
|
|
|
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)
|
rs587782529
|
|
|
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro)
|
rs121912664
|
|
|
NM_000546.6(TP53):c.1010G>T (p.Arg337Leu)
|
rs121912664
|
|
|
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro)
|
rs375338359
|
|
|
NM_000546.6(TP53):c.1028del (p.Glu343fs)
|
rs2150994907
|
|
|
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)
|
rs121912662
|
|
|
NM_000546.6(TP53):c.1039del (p.Ala347fs)
|
|
|
|
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp)
|
rs397516434
|
|
|
NM_000546.6(TP53):c.1043del (p.Leu348fs)
|
rs2150994688
|
|
|
NM_000546.6(TP53):c.1046_1055del (p.Glu349fs)
|
rs2150994409
|
|
|
NM_000546.6(TP53):c.1052del (p.Lys351fs)
|
rs2150994507
|
|
|
NM_000546.6(TP53):c.1054_1055del (p.Asp352fs)
|
|
|
|
NM_000546.6(TP53):c.1054del (p.Asp352fs)
|
rs2150994429
|
|
|
NM_000546.6(TP53):c.1060C>T (p.Gln354Ter)
|
rs755394212
|
|
|
NM_000546.6(TP53):c.1100+1G>T
|
|
|
|
NM_000546.6(TP53):c.1100+2T>A
|
rs2150993637
|
|
|
NM_000546.6(TP53):c.1101-1G>A
|
rs876658982
|
|
|
NM_000546.6(TP53):c.1101-2A>G
|
rs587781664
|
|
|
NM_000546.6(TP53):c.1101-2_1101-1inv
|
|
|
|
NM_000546.6(TP53):c.1140del (p.His380fs)
|
rs1555524108
|
|
|
NM_000546.6(TP53):c.1179dup (p.Ter394LeuextTer?)
|
rs1131691024
|
|
|
NM_000546.6(TP53):c.148dup (p.Ile50fs)
|
rs1567556956
|
|
|
NM_000546.6(TP53):c.241dup (p.Thr81fs)
|
rs2073470833
|
|
|
NM_000546.6(TP53):c.267del (p.Ser90fs)
|
rs587783062
|
|
|
NM_000546.6(TP53):c.272G>A (p.Trp91Ter)
|
rs2073465664
|
|
|
NM_000546.6(TP53):c.273_279del (p.Trp91fs)
|
rs1064796124
|
|
|
NM_000546.6(TP53):c.283_375+21del
|
rs1555526462
|
|
|
NM_000546.6(TP53):c.298C>T (p.Gln100Ter)
|
rs1567555994
|
|
|
NM_000546.6(TP53):c.298del (p.Gln100fs)
|
rs1567556006
|
|
|
NM_000546.6(TP53):c.306del (p.Tyr103fs)
|
|
|
|
NM_000546.6(TP53):c.313G>A (p.Gly105Ser)
|
rs1060501195
|
|
|
NM_000546.6(TP53):c.313G>C (p.Gly105Arg)
|
rs1060501195
|
|
|
NM_000546.6(TP53):c.313_360dup (p.Gly105_Lys120dup)
|
rs2073450690
|
|
|
NM_000546.6(TP53):c.316_336del (p.Ser106_Gly112del)
|
|
|
|
NM_000546.6(TP53):c.318C>G (p.Ser106Arg)
|
rs1555526581
|
|
|
NM_000546.6(TP53):c.318dup (p.Tyr107fs)
|
|
|
|
NM_000546.6(TP53):c.319T>G (p.Tyr107Asp)
|
rs368771578
|
|
|
NM_000546.6(TP53):c.322_339del (p.Gly108_Phe113del)
|
rs886039495
|
|
|
NM_000546.6(TP53):c.324_331delinsAAA (p.Phe109fs)
|
rs2073455679
|
|
|
NM_000546.6(TP53):c.325T>A (p.Phe109Ile)
|
|
|
|
NM_000546.6(TP53):c.325_330del (p.Phe109_Arg110del)
|
|
|
|
NM_000546.6(TP53):c.326T>G (p.Phe109Cys)
|
rs1064796722
|
|
|
NM_000546.6(TP53):c.327_328del (p.Phe109fs)
|
rs1064795434
|
|
|
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)
|
rs11540654
|
|
|
NM_000546.6(TP53):c.329G>T (p.Arg110Leu)
|
rs11540654
|
|
|
NM_000546.6(TP53):c.332T>A (p.Leu111Gln)
|
rs1057519997
|
|
|
NM_000546.6(TP53):c.332T>C (p.Leu111Pro)
|
rs1057519997
|
|
|
NM_000546.6(TP53):c.337T>G (p.Phe113Val)
|
rs587781642
|
|
|
NM_000546.6(TP53):c.339C>A (p.Phe113Leu)
|
|
|
|
NM_000546.6(TP53):c.356C>G (p.Ala119Gly)
|
rs2073451331
|
|
|
NM_000546.6(TP53):c.358A>G (p.Lys120Glu)
|
rs121912658
|
|
|
NM_000546.6(TP53):c.373A>C (p.Thr125Pro)
|
rs1057520003
|
|
|
NM_000546.6(TP53):c.374C>G (p.Thr125Arg)
|
rs786201057
|
|
|
NM_000546.6(TP53):c.375+1G>A
|
rs1567555445
|
|
|
NM_000546.6(TP53):c.375+1G>C
|
rs1567555445
|
|
|
NM_000546.6(TP53):c.375+1G>T
|
rs1567555445
|
|
|
NM_000546.6(TP53):c.375+1dup
|
rs1555526470
|
|
|
NM_000546.6(TP53):c.375+2T>A
|
rs1555526469
|
|
|
NM_000546.6(TP53):c.375+2T>C
|
rs1555526469
|
|
|
NM_000546.6(TP53):c.375+5G>A
|
rs1555526466
|
|
|
NM_000546.6(TP53):c.375G>C (p.Thr125=)
|
rs55863639
|
|
|
NM_000546.6(TP53):c.375G>T (p.Thr125=)
|
rs55863639
|
|
|
NM_000546.6(TP53):c.375_375+1dup
|
|
|
|
NM_000546.6(TP53):c.376-11_377del
|
rs2151034180
|
|
|
NM_000546.6(TP53):c.376-1_381delinsT
|
|
|
|
NM_000546.6(TP53):c.376-2A>G
|
rs786202799
|
|
|
NM_000546.6(TP53):c.376-6_376del
|
|
|
|
NM_000546.6(TP53):c.376T>G (p.Tyr126Asp)
|
rs886039483
|
|
|
NM_000546.6(TP53):c.377A>G (p.Tyr126Cys)
|
rs1555526335
|
|
|
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)
|
rs1567554500
|
|
|
NM_000546.6(TP53):c.379T>A (p.Ser127Thr)
|
rs1597371694
|
|
|
NM_000546.6(TP53):c.379T>C (p.Ser127Pro)
|
rs1597371694
|
|
|
NM_000546.6(TP53):c.380C>A (p.Ser127Tyr)
|
rs730881999
|
|
|
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
|
rs730881999
|
|
|
NM_000546.6(TP53):c.388C>T (p.Leu130Phe)
|
rs863224683
|
|
|
NM_000546.6(TP53):c.38dup (p.Leu14fs)
|
rs1555527002
|
|
|
NM_000546.6(TP53):c.390CAA[1] (p.Asn131del)
|
rs879254214
|
|
|
NM_000546.6(TP53):c.392A>T (p.Asn131Ile)
|
rs1131691037
|
|
|
NM_000546.6(TP53):c.392_398dup (p.Met133fs)
|
rs2151033760
|
|
|
NM_000546.6(TP53):c.394A>C (p.Lys132Gln)
|
rs747342068
|
|
|
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)
|
rs747342068
|
|
|
NM_000546.6(TP53):c.396G>C (p.Lys132Asn)
|
rs866775781
|
|
|
NM_000546.6(TP53):c.396G>T (p.Lys132Asn)
|
rs866775781
|
|
|
NM_000546.6(TP53):c.400T>A (p.Phe134Ile)
|
rs267605077
|
|
|
NM_000546.6(TP53):c.400T>G (p.Phe134Val)
|
rs267605077
|
|
|
NM_000546.6(TP53):c.402T>A (p.Phe134Leu)
|
rs1555526278
|
|
|
NM_000546.6(TP53):c.403T>C (p.Cys135Arg)
|
rs1057519975
|
|
|
NM_000546.6(TP53):c.403T>G (p.Cys135Gly)
|
rs1057519975
|
|
|
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)
|
rs587781991
|
|
|
NM_000546.6(TP53):c.404G>T (p.Cys135Phe)
|
rs587781991
|
|
|
NM_000546.6(TP53):c.409_417del (p.Leu137_Lys139del)
|
rs2073395622
|
|
|
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)
|
rs587781288
|
|
|
NM_000546.6(TP53):c.422_433del (p.Cys141_Gln144del)
|
|
|
|
NM_000546.6(TP53):c.427G>A (p.Val143Met)
|
rs587782620
|
|
|
NM_000546.6(TP53):c.428T>C (p.Val143Ala)
|
rs1555526241
|
|
|
NM_000546.6(TP53):c.428T>G (p.Val143Gly)
|
rs1555526241
|
|
|
NM_000546.6(TP53):c.430C>T (p.Gln144Ter)
|
rs757274881
|
|
|
NM_000546.6(TP53):c.434T>A (p.Leu145Gln)
|
rs587782197
|
|
|
NM_000546.6(TP53):c.434T>C (p.Leu145Pro)
|
rs587782197
|
|
|
NM_000546.6(TP53):c.437G>A (p.Trp146Ter)
|
rs1206165503
|
|
|
NM_000546.6(TP53):c.440T>A (p.Val147Asp)
|
rs1453167097
|
|
|
NM_000546.6(TP53):c.440T>G (p.Val147Gly)
|
|
|
|
NM_000546.6(TP53):c.448_459del (p.Thr150_Pro153del)
|
rs137852790
|
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
|
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)
|
rs1057520000
|
|
|
NM_000546.6(TP53):c.455C>G (p.Pro152Arg)
|
rs587782705
|
|
|
NM_000546.6(TP53):c.459del (p.Gly154fs)
|
|
|
|
NM_000546.6(TP53):c.464C>A (p.Thr155Asn)
|
rs786202752
|
|
|
NM_000546.6(TP53):c.469G>T (p.Val157Phe)
|
rs121912654
|
|
|
NM_000546.6(TP53):c.470T>A (p.Val157Asp)
|
rs1131691023
|
|
|
NM_000546.6(TP53):c.470T>C (p.Val157Ala)
|
rs1131691023
|
|
|
NM_000546.6(TP53):c.470T>G (p.Val157Gly)
|
rs1131691023
|
|
|
NM_000546.6(TP53):c.470_471delinsGT (p.Val157Gly)
|
|
|
|
NM_000546.6(TP53):c.470_475del (p.Val157_Arg158del)
|
|
|
|
NM_000546.6(TP53):c.473G>C (p.Arg158Pro)
|
rs587782144
|
|
|
NM_000546.6(TP53):c.473G>T (p.Arg158Leu)
|
rs587782144
|
|
|
NM_000546.6(TP53):c.473_474delinsTT (p.Arg158Leu)
|
rs1567553501
|
|
|
NM_000546.6(TP53):c.476C>A (p.Ala159Asp)
|
rs1555526131
|
|
|
NM_000546.6(TP53):c.476C>T (p.Ala159Val)
|
rs1555526131
|
|
|
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)
|
rs193920817
|
|
|
NM_000546.6(TP53):c.482C>A (p.Ala161Asp)
|
rs1064795691
|
|
|
NM_000546.6(TP53):c.482_487del (p.Ala161_Tyr163delinsAsp)
|
rs2073376974
|
|
|
NM_000546.6(TP53):c.485T>G (p.Ile162Ser)
|
rs587780069
|
|
|
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn)
|
rs786203436
|
|
|
NM_000546.6(TP53):c.489_495del (p.Lys164fs)
|
|
|
|
NM_000546.6(TP53):c.490A>G (p.Lys164Glu)
|
rs879254249
|
|
|
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)
|
rs1555526097
|
|
|
NM_000546.6(TP53):c.503A>G (p.His168Arg)
|
rs867114783
|
|
|
NM_000546.6(TP53):c.514G>T (p.Val172Phe)
|
rs1131691043
|
|
|
NM_000546.6(TP53):c.515T>A (p.Val172Asp)
|
rs1131691021
|
|
|
NM_000546.6(TP53):c.517G>A (p.Val173Met)
|
rs876660754
|
|
|
NM_000546.6(TP53):c.517G>T (p.Val173Leu)
|
rs876660754
|
|
|
NM_000546.6(TP53):c.518T>A (p.Val173Glu)
|
rs1057519747
|
|
|
NM_000546.6(TP53):c.518T>C (p.Val173Ala)
|
rs1057519747
|
|
|
NM_000546.6(TP53):c.523C>G (p.Arg175Gly)
|
rs138729528
|
|
|
NM_000546.6(TP53):c.524G>T (p.Arg175Leu)
|
rs28934578
|
|
|
NM_000546.6(TP53):c.526T>A (p.Cys176Ser)
|
rs967461896
|
|
|
NM_000546.6(TP53):c.526T>C (p.Cys176Arg)
|
rs967461896
|
|
|
NM_000546.6(TP53):c.526T>G (p.Cys176Gly)
|
rs967461896
|
|
|
NM_000546.6(TP53):c.527G>T (p.Cys176Phe)
|
rs786202962
|
|
|
NM_000546.6(TP53):c.528C>G (p.Cys176Trp)
|
rs1057519980
|
|
|
NM_000546.6(TP53):c.529_546del (p.Pro177_Cys182del)
|
rs2073361326
|
|
|
NM_000546.6(TP53):c.530C>G (p.Pro177Arg)
|
rs751477326
|
|
|
NM_000546.6(TP53):c.532C>G (p.His178Asp)
|
rs1064795203
|
|
|
NM_000546.6(TP53):c.533A>C (p.His178Pro)
|
rs1555526004
|
|
|
NM_000546.6(TP53):c.535C>A (p.His179Asn)
|
rs587780070
|
|
|
NM_000546.6(TP53):c.536A>T (p.His179Leu)
|
rs1057519991
|
|
|
NM_000546.6(TP53):c.537T>G (p.His179Gln)
|
rs876660821
|
|
|
NM_000546.6(TP53):c.538G>A (p.Glu180Lys)
|
rs879253911
|
|
|
NM_000546.6(TP53):c.542G>C (p.Arg181Pro)
|
rs397514495
|
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
|
NM_000546.6(TP53):c.559+1G>T
|
rs1131691042
|
|
|
NM_000546.6(TP53):c.560-15_560-5del
|
|
|
|
NM_000546.6(TP53):c.560-19_560-9del
|
rs2073351094
|
|
|
NM_000546.6(TP53):c.560-1G>T
|
|
|
|
NM_000546.6(TP53):c.560-22_560del
|
|
|
|
NM_000546.6(TP53):c.560-2A>G
|
|
|
|
NM_000546.6(TP53):c.560-4_560-2del
|
rs1060501212
|
|
|
NM_000546.6(TP53):c.560-9T>A
|
rs794727781
|
|
|
NM_000546.6(TP53):c.564_581del (p.Ala189_Leu194del)
|
|
|
|
NM_000546.6(TP53):c.569C>T (p.Pro190Leu)
|
rs876660825
|
|
|
NM_000546.6(TP53):c.577C>G (p.His193Asp)
|
rs876658468
|
|
|
NM_000546.6(TP53):c.577C>T (p.His193Tyr)
|
rs876658468
|
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
|
NM_000546.6(TP53):c.578A>T (p.His193Leu)
|
rs786201838
|
|
|
NM_000546.6(TP53):c.580C>T (p.Leu194Phe)
|
rs587780071
|
|
|
NM_000546.6(TP53):c.581T>A (p.Leu194His)
|
rs1057519998
|
|
|
NM_000546.6(TP53):c.581T>G (p.Leu194Arg)
|
rs1057519998
|
|
|
NM_000546.6(TP53):c.584T>G (p.Ile195Ser)
|
rs760043106
|
|
|
NM_000546.6(TP53):c.587G>C (p.Arg196Pro)
|
rs483352697
|
|
|
NM_000546.6(TP53):c.587G>T (p.Arg196Leu)
|
rs483352697
|
|
|
NM_000546.6(TP53):c.589G>A (p.Val197Met)
|
rs786204041
|
|
|
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)
|
rs1057520008
|
|
|
NM_000546.6(TP53):c.613T>C (p.Tyr205His)
|
rs1057520008
|
|
|
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)
|
rs1057520008
|
|
|
NM_000546.6(TP53):c.613_618del (p.Tyr205_Leu206del)
|
|
|
|
NM_000546.6(TP53):c.623A>T (p.Asp208Val)
|
rs1464727668
|
|
|
NM_000546.6(TP53):c.632C>T (p.Thr211Ile)
|
rs2073331490
|
|
|
NM_000546.6(TP53):c.637C>G (p.Arg213Gly)
|
rs397516436
|
|
|
NM_000546.6(TP53):c.637_660del (p.Arg213_Tyr220del)
|
|
|
|
NM_000546.6(TP53):c.638G>C (p.Arg213Pro)
|
rs587778720
|
|
|
NM_000546.6(TP53):c.638G>T (p.Arg213Leu)
|
rs587778720
|
|
|
NM_000546.6(TP53):c.641A>G (p.His214Arg)
|
rs1057519992
|
|
|
NM_000546.6(TP53):c.643A>C (p.Ser215Arg)
|
rs886039484
|
|
|
NM_000546.6(TP53):c.643A>G (p.Ser215Gly)
|
rs886039484
|
|
|
NM_000546.6(TP53):c.644G>A (p.Ser215Asn)
|
rs587782177
|
|
|
NM_000546.6(TP53):c.645T>G (p.Ser215Arg)
|
rs1057520001
|
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
|
NM_000546.6(TP53):c.646G>T (p.Val216Leu)
|
rs730882025
|
|
|
NM_000546.6(TP53):c.646GTG[2] (p.Val218del)
|
rs1597367938
|
|
|
NM_000546.6(TP53):c.653T>A (p.Val218Glu)
|
|
|
|
NM_000546.6(TP53):c.653T>G (p.Val218Gly)
|
rs1555525743
|
|
|
NM_000546.6(TP53):c.655C>T (p.Pro219Ser)
|
rs879253894
|
|
|
NM_000546.6(TP53):c.657_668del (p.Tyr220_Pro223del)
|
rs876660749
|
|
|
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn)
|
rs530941076
|
|
|
NM_000546.6(TP53):c.658T>C (p.Tyr220His)
|
rs530941076
|
|
|
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp)
|
rs530941076
|
|
|
NM_000546.6(TP53):c.672+1G>A
|
rs863224499
|
|
|
NM_000546.6(TP53):c.672+1G>C
|
|
|
|
NM_000546.6(TP53):c.672+1G>T
|
rs863224499
|
|
|
NM_000546.6(TP53):c.672+2T>A
|
rs1555525703
|
|
|
NM_000546.6(TP53):c.672G>A (p.Glu224=)
|
rs267605076
|
|
|
NM_000546.6(TP53):c.673-1G>C
|
rs878854073
|
|
|
NM_000546.6(TP53):c.673-2A>G
|
rs1555525585
|
|
|
NM_000546.6(TP53):c.695T>A (p.Ile232Asn)
|
rs587781589
|
|
|
NM_000546.6(TP53):c.700T>C (p.Tyr234His)
|
rs864622237
|
|
|
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)
|
rs864622237
|
|
|
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
|
rs587780073
|
|
|
NM_000546.6(TP53):c.703A>G (p.Asn235Asp)
|
rs786204145
|
|
|
NM_000546.6(TP53):c.706T>A (p.Tyr236Asn)
|
rs587782289
|
|
|
NM_000546.6(TP53):c.706T>C (p.Tyr236His)
|
rs587782289
|
|
|
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp)
|
rs587782289
|
|
|
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys)
|
rs730882026
|
|
|
NM_000546.6(TP53):c.710T>A (p.Met237Lys)
|
rs765848205
|
|
|
NM_000546.6(TP53):c.711G>C (p.Met237Ile)
|
|
|
|
NM_000546.6(TP53):c.712T>C (p.Cys238Arg)
|
rs1057519981
|
|
|
NM_000546.6(TP53):c.713G>C (p.Cys238Ser)
|
rs730882005
|
|
|
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)
|
rs730882005
|
|
|
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)
|
rs876660807
|
|
|
NM_000546.6(TP53):c.716A>G (p.Asn239Ser)
|
rs1057519999
|
|
|
NM_000546.6(TP53):c.718A>G (p.Ser240Gly)
|
rs1567549584
|
|
|
NM_000546.6(TP53):c.721T>A (p.Ser241Thr)
|
rs1057520002
|
|
|
NM_000546.6(TP53):c.721T>G (p.Ser241Ala)
|
rs1057520002
|
|
|
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)
|
rs28934573
|
|
|
NM_000546.6(TP53):c.722C>G (p.Ser241Cys)
|
rs28934573
|
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
|
NM_000546.6(TP53):c.724T>A (p.Cys242Ser)
|
rs1057519982
|
|
|
NM_000546.6(TP53):c.724T>C (p.Cys242Arg)
|
rs1057519982
|
|
|
NM_000546.6(TP53):c.725G>C (p.Cys242Ser)
|
rs121912655
|
|
|
NM_000546.6(TP53):c.731G>A (p.Gly244Asp)
|
rs985033810
|
|
|
NM_000546.6(TP53):c.731G>C (p.Gly244Ala)
|
rs985033810
|
|
|
NM_000546.6(TP53):c.731G>T (p.Gly244Val)
|
rs985033810
|
|
|
NM_000546.6(TP53):c.733G>C (p.Gly245Arg)
|
rs28934575
|
|
|
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
|
rs121912656
|
|
|
NM_000546.6(TP53):c.736A>G (p.Met246Val)
|
rs483352695
|
|
|
NM_000546.6(TP53):c.737T>A (p.Met246Lys)
|
rs587780074
|
|
|
NM_000546.6(TP53):c.738G>A (p.Met246Ile)
|
rs1019340046
|
|
|
NM_000546.6(TP53):c.741_742delinsTT (p.Arg248Trp)
|
rs1555525498
|
|
|
NM_000546.6(TP53):c.742C>G (p.Arg248Gly)
|
rs121912651
|
|
|
NM_000546.6(TP53):c.743G>C (p.Arg248Pro)
|
rs11540652
|
|
|
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)
|
rs11540652
|
|
|
NM_000546.6(TP53):c.745A>G (p.Arg249Gly)
|
rs587782082
|
|
|
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)
|
rs587782082
|
|
|
NM_000546.6(TP53):c.746G>C (p.Arg249Thr)
|
rs587782329
|
|
|
NM_000546.6(TP53):c.746G>T (p.Arg249Met)
|
rs587782329
|
|
|
NM_000546.6(TP53):c.747G>C (p.Arg249Ser)
|
rs28934571
|
|
|
NM_000546.6(TP53):c.747G>T (p.Arg249Ser)
|
rs28934571
|
|
|
NM_000546.6(TP53):c.747_748delinsTA (p.Arg249_Pro250delinsSerThr)
|
|
|
|
NM_000546.6(TP53):c.749C>T (p.Pro250Leu)
|
rs1064794311
|
|
|
NM_000546.6(TP53):c.75-1G>A
|
rs2151045740
|
|
|
NM_000546.6(TP53):c.75-2A>G
|
rs1131691020
|
|
|
NM_000546.6(TP53):c.751A>C (p.Ile251Leu)
|
rs730882007
|
|
|
NM_000546.6(TP53):c.751A>T (p.Ile251Phe)
|
rs730882007
|
|
|
NM_000546.6(TP53):c.752T>A (p.Ile251Asn)
|
rs730882027
|
|
|
NM_000546.6(TP53):c.752T>C (p.Ile251Thr)
|
rs730882027
|
|
|
NM_000546.6(TP53):c.752T>G (p.Ile251Ser)
|
rs730882027
|
|
|
NM_000546.6(TP53):c.754_762del (p.Leu252_Ile254del)
|
rs2073243450
|
|
|
NM_000546.6(TP53):c.757A>C (p.Thr253Pro)
|
|
|
|
NM_000546.6(TP53):c.757A>G (p.Thr253Ala)
|
rs1597364185
|
|
|
NM_000546.6(TP53):c.758C>T (p.Thr253Ile)
|
rs1555525465
|
|
|
NM_000546.6(TP53):c.759_767del (p.Ile254_Thr256del)
|
|
|
|
NM_000546.6(TP53):c.761T>A (p.Ile254Asn)
|
rs1330865474
|
|
|
NM_000546.6(TP53):c.761T>C (p.Ile254Thr)
|
|
|
|
NM_000546.6(TP53):c.761TCA[1] (p.Ile255del)
|
rs1064794309
|
|
|
NM_000546.6(TP53):c.763A>T (p.Ile255Phe)
|
rs1057519995
|
|
|
NM_000546.6(TP53):c.764T>A (p.Ile255Asn)
|
rs876659675
|
|
|
NM_000546.6(TP53):c.766A>C (p.Thr256Pro)
|
rs587781433
|
|
|
NM_000546.6(TP53):c.770T>C (p.Leu257Pro)
|
rs28934577
|
|
|
NM_000546.6(TP53):c.770_772del (p.Leu257_Glu258delinsGln)
|
|
|
|
NM_000546.6(TP53):c.772G>A (p.Glu258Lys)
|
rs121912652
|
|
|
NM_000546.6(TP53):c.773A>G (p.Glu258Gly)
|
rs1060501201
|
|
|
NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs)
|
rs397516438
|
|
|
NM_000546.6(TP53):c.780_782+3del
|
|
|
|
NM_000546.6(TP53):c.782+1G>C
|
|
|
|
NM_000546.6(TP53):c.782+1G>T
|
rs1555525429
|
|
|
NM_000546.6(TP53):c.782+2T>C
|
|
|
|
NM_000546.6(TP53):c.782+2_782+6del
|
rs1567548832
|
|
|
NM_000546.6(TP53):c.783-4_803delinsC
|
|
|
|
NM_000546.6(TP53):c.783-8_784del
|
|
|
|
NM_000546.6(TP53):c.784_785insAAGCC (p.Gly262fs)
|
|
|
|
NM_000546.6(TP53):c.792_794del (p.Leu265del)
|
|
|
|
NM_000546.6(TP53):c.794T>A (p.Leu265Gln)
|
rs879253942
|
|
|
NM_000546.6(TP53):c.794T>C (p.Leu265Pro)
|
rs879253942
|
|
|
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)
|
rs193920774
|
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
|
NM_000546.6(TP53):c.808T>C (p.Phe270Leu)
|
rs1057519988
|
|
|
NM_000546.6(TP53):c.809T>C (p.Phe270Ser)
|
rs1057519986
|
|
|
NM_000546.6(TP53):c.809T>G (p.Phe270Cys)
|
rs1057519986
|
|
|
NM_000546.6(TP53):c.812A>T (p.Glu271Val)
|
|
|
|
NM_000546.6(TP53):c.814G>A (p.Val272Met)
|
rs121912657
|
|
|
NM_000546.6(TP53):c.814G>T (p.Val272Leu)
|
rs121912657
|
|
|
NM_000546.6(TP53):c.815T>A (p.Val272Glu)
|
rs876660333
|
|
|
NM_000546.6(TP53):c.815T>G (p.Val272Gly)
|
rs876660333
|
|
|
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>C (p.Arg273Pro)
|
rs28934576
|
|
|
NM_000546.6(TP53):c.820G>T (p.Val274Phe)
|
rs1057520005
|
|
|
NM_000546.6(TP53):c.821T>G (p.Val274Gly)
|
rs1057520006
|
|
|
NM_000546.6(TP53):c.823T>C (p.Cys275Arg)
|
rs1057519983
|
|
|
NM_000546.6(TP53):c.823T>G (p.Cys275Gly)
|
rs1057519983
|
|
|
NM_000546.6(TP53):c.827C>A (p.Ala276Asp)
|
rs786202082
|
|
|
NM_000546.6(TP53):c.827_853del (p.Ala276_Thr284del)
|
rs2151015346
|
|
|
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)
|
rs763098116
|
|
|
NM_000546.6(TP53):c.830G>T (p.Cys277Phe)
|
rs763098116
|
|
|
NM_000546.6(TP53):c.832C>A (p.Pro278Thr)
|
rs17849781
|
|
|
NM_000546.6(TP53):c.832C>G (p.Pro278Ala)
|
rs17849781
|
|
|
NM_000546.6(TP53):c.832C>T (p.Pro278Ser)
|
rs17849781
|
|
|
NM_000546.6(TP53):c.833C>A (p.Pro278His)
|
rs876659802
|
|
|
NM_000546.6(TP53):c.833C>G (p.Pro278Arg)
|
rs876659802
|
|
|
NM_000546.6(TP53):c.835G>A (p.Gly279Arg)
|
rs1555525248
|
|
|
NM_000546.6(TP53):c.836G>A (p.Gly279Glu)
|
rs1064793881
|
|
|
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)
|
rs753660142
|
|
|
NM_000546.6(TP53):c.839G>C (p.Arg280Thr)
|
rs121912660
|
|
|
NM_000546.6(TP53):c.839G>T (p.Arg280Ile)
|
rs121912660
|
|
|
NM_000546.6(TP53):c.840A>C (p.Arg280Ser)
|
rs1567547687
|
|
|
NM_000546.6(TP53):c.841G>C (p.Asp281His)
|
rs764146326
|
|
|
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)
|
rs764146326
|
|
|
NM_000546.6(TP53):c.842A>T (p.Asp281Val)
|
rs587781525
|
|
|
NM_000546.6(TP53):c.843C>A (p.Asp281Glu)
|
rs1057519984
|
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
|
NM_000546.6(TP53):c.848G>C (p.Arg283Pro)
|
rs371409680
|
|
|
NM_000546.6(TP53):c.856G>A (p.Glu286Lys)
|
rs786201059
|
|
|
NM_000546.6(TP53):c.856G>C (p.Glu286Gln)
|
rs786201059
|
|
|
NM_000546.6(TP53):c.857A>C (p.Glu286Ala)
|
rs1057519985
|
|
|
NM_000546.6(TP53):c.869_870insTGAGGAAGAGAATCTCCGC (p.Lys291fs)
|
|
|
|
NM_000546.6(TP53):c.878_882del (p.Gly293fs)
|
|
|
|
NM_000546.6(TP53):c.88_96+1dup
|
rs2151045431
|
|
|
NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer)
|
rs2073171970
|
|
|
NM_000546.6(TP53):c.892del (p.Glu298fs)
|
rs2073177507
|
|
|
NM_000546.6(TP53):c.917_919+6del
|
rs1567546716
|
|
|
NM_000546.6(TP53):c.919+15_919+17delinsTGGAAACGAATGGAATCATCATCGAATGGAAATGAAAGGAGTCATCATCTAATGGAATTGCATGGAATCATCATAAAATGGAATCGAATGGAATCAACATCAAATGGAATCAAATGGAATCATTGAACGGAATTGAATGGAATCGTCATCGAATGAATTGACTGCAATCATCGAATGGTCTCGAATGGAATCATCTTCAAATGGAATGGAATGGAATCATCGCATAGAATCGAATGGAATTATCATCGAATGGAATCGAATGGAATCAACATCAAACGGAAAAAAACGGAATTATCGAATGGAATCGAAGAGAATCATC
|
|
|
|
NM_000546.6(TP53):c.919+1G>A
|
rs1131691039
|
|
|
NM_000546.6(TP53):c.919+1G>C
|
rs1131691039
|
|
|
NM_000546.6(TP53):c.919+1G>T
|
|
|
|
NM_000546.6(TP53):c.919+2T>G
|
rs1131691016
|
|
|
NM_000546.6(TP53):c.920-2A>C
|
|
|
|
NM_000546.6(TP53):c.920-2A>G
|
rs397516439
|
|
|
NM_000546.6(TP53):c.920-3_920-1delinsACTGCCTCTTTCCACTTGCACCTTTC
|
|
|
|
NM_000546.6(TP53):c.920-3_923del
|
|
|
|
NM_000546.6(TP53):c.920-4_920del
|
rs2151012455
|
|
|
NM_000546.6(TP53):c.934_992dup (p.Ile332fs)
|
rs2151010859
|
|
|
NM_000546.6(TP53):c.949C>T (p.Gln317Ter)
|
rs764735889
|
|
|
NM_000546.6(TP53):c.96+1G>A
|
rs1131691003
|
|
|
NM_000546.6(TP53):c.96+1G>C
|
rs1131691003
|
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
|
NM_000546.6(TP53):c.96+1del
|
rs2151045418
|
|
|
NM_000546.6(TP53):c.97-1G>T
|
rs1597375294
|
|
|
NM_000546.6(TP53):c.97-2A>C
|
|
|
|
NM_000546.6(TP53):c.97-2del
|
rs1567557258
|
|
|
NM_000546.6(TP53):c.97-5_98del
|
|
|
|
NM_000546.6(TP53):c.979_993+7del
|
|
|
|
NM_000546.6(TP53):c.993+1del
|
rs1131691033
|
|
|
NM_000546.6(TP53):c.993G>A (p.Gln331=)
|
rs11575996
|
|
|
NM_000546.6(TP53):c.994-1G>A
|
rs587782272
|
|
|
NM_000546.6(TP53):c.994-1G>C
|
rs587782272
|
|
|
NM_000546.6(TP53):c.994-2A>G
|
rs867389695
|
|
|
NM_000546.6(TP53):c.994-3_1000del
|
|
|
|
NM_000548.5(TSC2):c.-30+1G>C
|
rs587778004
|
|
|
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala)
|
rs45484892
|
|
|
NM_000548.5(TSC2):c.1037T>A (p.Ile346Asn)
|
|
|
|
NM_000548.5(TSC2):c.1067_1068dup (p.Ala357fs)
|
|
|
|
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro)
|
rs137854345
|
|
|
NM_000548.5(TSC2):c.1089del (p.Asn363fs)
|
|
|
|
NM_000548.5(TSC2):c.1090_1099del (p.Ile364fs)
|
|
|
|
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)
|
rs45517148
|
|
|
NM_000548.5(TSC2):c.1098_1100del (p.Arg367del)
|
|
|
|
NM_000548.5(TSC2):c.1118A>G (p.Gln373Arg)
|
rs397515131
|
|
|
NM_000548.5(TSC2):c.1120-1del
|
rs2086678681
|
|
|
NM_000548.5(TSC2):c.1133dup (p.Glu379fs)
|
|
|
|
NM_000548.5(TSC2):c.1221C>G (p.Tyr407Ter)
|
|
|
|
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)
|
rs137854298
|
|
|
NM_000548.5(TSC2):c.1257+2T>C
|
rs45509697
|
|
|
NM_000548.5(TSC2):c.1257+2_1257+3del
|
rs1596303814
|
|
|
NM_000548.5(TSC2):c.1257+5G>A
|
rs2151157428
|
|
|
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del)
|
rs137853983
|
|
|
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro)
|
rs397515206
|
|
|
NM_000548.5(TSC2):c.1361+1G>A
|
rs45517164
|
|
|
NM_000548.5(TSC2):c.1361+1G>T
|
rs45517164
|
|
|
NM_000548.5(TSC2):c.1361+2T>C
|
rs397515301
|
|
|
NM_000548.5(TSC2):c.1361G>A (p.Arg454Lys)
|
|
|
|
NM_000548.5(TSC2):c.138+5G>A
|
rs45481400
|
|
|
NM_000548.5(TSC2):c.1397T>C (p.Leu466Pro)
|
rs45481199
|
|
|
NM_000548.5(TSC2):c.1443G>T (p.Glu481Asp)
|
|
|
|
NM_000548.5(TSC2):c.1477C>G (p.Leu493Val)
|
rs45517177
|
|
|
NM_000548.5(TSC2):c.1491del (p.Glu498fs)
|
rs137854346
|
|
|
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)
|
rs45517179
|
|
|
NM_000548.5(TSC2):c.1523C>A (p.Ala508Asp)
|
|
|
|
NM_000548.5(TSC2):c.1565_1566del (p.His522fs)
|
rs1555502530
|
|
|
NM_000548.5(TSC2):c.1583T>C (p.Leu528Pro)
|
rs397514922
|
|
|
NM_000548.5(TSC2):c.1599+4A>T
|
|
|
|
NM_000548.5(TSC2):c.1659C>A (p.Tyr553Ter)
|
|
|
|
NM_000548.5(TSC2):c.1683_1685del (p.Thr562del)
|
|
|
|
NM_000548.5(TSC2):c.1717-115_1759del
|
rs2151275013
|
|
|
NM_000548.5(TSC2):c.1717-1G>A
|
rs45517192
|
|
|
NM_000548.5(TSC2):c.1778A>G (p.His593Arg)
|
rs45517198
|
|
|
NM_000548.5(TSC2):c.1789C>T (p.His597Tyr)
|
rs397515246
|
|
|
NM_000548.5(TSC2):c.1792T>C (p.Tyr598His)
|
rs45517201
|
|
|
NM_000548.5(TSC2):c.1803C>G (p.Ser601Arg)
|
|
|
|
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)
|
rs28934872
|
|
|
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro)
|
rs1567458244
|
|
|
NM_000548.5(TSC2):c.1840-2A>G
|
rs45517205
|
|
|
NM_000548.5(TSC2):c.1840-3C>G
|
rs397515154
|
|
|
NM_000548.5(TSC2):c.1855_1863dup (p.Leu619_Leu621dup)
|
rs2088385424
|
|
|
NM_000548.5(TSC2):c.1856TGC[2] (p.Leu621del)
|
rs397515195
|
|
|
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)
|
rs397514914
|
|
|
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro)
|
rs45517206
|
|
|
NM_000548.5(TSC2):c.1866_1870dup (p.Asp624fs)
|
rs2088388374
|
|
|
NM_000548.5(TSC2):c.1934_1936delinsC (p.Val645fs)
|
|
|
|
NM_000548.5(TSC2):c.1945_1946+4del
|
rs2151299256
|
|
|
NM_000548.5(TSC2):c.1947-1G>T
|
rs397515310
|
|
|
NM_000548.5(TSC2):c.1947-2A>C
|
rs45517207
|
|
|
NM_000548.5(TSC2):c.2086T>C (p.Cys696Arg)
|
rs45483301
|
|
|
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr)
|
rs45486196
|
|
|
NM_000548.5(TSC2):c.2098-2A>G
|
rs45501596
|
|
|
NM_000548.5(TSC2):c.2113G>A (p.Val705Met)
|
rs397515241
|
|
|
NM_000548.5(TSC2):c.2117T>C (p.Leu706Pro)
|
|
|
|
NM_000548.5(TSC2):c.2125G>T (p.Val709Phe)
|
rs1567467135
|
|
|
NM_000548.5(TSC2):c.2126T>G (p.Val709Gly)
|
|
|
|
NM_000548.5(TSC2):c.2170_2177del (p.Phe724fs)
|
|
|
|
NM_000548.5(TSC2):c.2197C>G (p.Leu733Val)
|
rs397515163
|
|
|
NM_000548.5(TSC2):c.2198T>C (p.Leu733Pro)
|
rs45517217
|
|
|
NM_000548.5(TSC2):c.225+1G>A
|
rs1567387207
|
|
|
NM_000548.5(TSC2):c.225+2T>C
|
rs397515105
|
|
|
NM_000548.5(TSC2):c.226-1G>A
|
rs397515134
|
|
|
NM_000548.5(TSC2):c.2261C>T (p.Pro754Leu)
|
rs2088690950
|
|
|
NM_000548.5(TSC2):c.2265del (p.Gly756fs)
|
|
|
|
NM_000548.5(TSC2):c.2318dup (p.Leu773fs)
|
rs1596350476
|
|
|
NM_000548.5(TSC2):c.2339T>C (p.Leu780Pro)
|
rs2151328709
|
|
|
NM_000548.5(TSC2):c.2356-1_2356delinsTT
|
|
|
|
NM_000548.5(TSC2):c.2356-4_2356-3delinsAG
|
|
|
|
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg)
|
rs137853995
|
|
|
NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser)
|
rs45489791
|
|
|
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu)
|
rs45517236
|
|
|
NM_000548.5(TSC2):c.2469_2471del (p.Pro824del)
|
rs2088931795
|
|
|
NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro)
|
rs45517239
|
|
|
NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro)
|
rs397515303
|
|
|
NM_000548.5(TSC2):c.2537del (p.Phe846fs)
|
|
|
|
NM_000548.5(TSC2):c.2545+5G>C
|
rs1131691965
|
|
|
NM_000548.5(TSC2):c.2545A>C (p.Thr849Pro)
|
|
|
|
NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro)
|
rs45517248
|
|
|
NM_000548.5(TSC2):c.2599dup (p.Ser867fs)
|
|
|
|
NM_000548.5(TSC2):c.2608G>C (p.Ala870Pro)
|
rs1060500975
|
|
|
NM_000548.5(TSC2):c.2623T>G (p.Tyr875Asp)
|
rs2089272680
|
|
|
NM_000548.5(TSC2):c.2640-2A>G
|
rs137854380
|
|
|
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter)
|
rs45476100
|
|
|
NM_000548.5(TSC2):c.2665G>C (p.Ala889Pro)
|
rs397515054
|
|
|
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)
|
rs137854155
|
|
|
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)
|
rs45517099
|
|
|
NM_000548.5(TSC2):c.2698T>G (p.Cys900Gly)
|
|
|
|
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)
|
rs45517259
|
|
|
NM_000548.5(TSC2):c.2724dup (p.Val909fs)
|
|
|
|
NM_000548.5(TSC2):c.2726T>A (p.Val909Asp)
|
|
|
|
NM_000548.5(TSC2):c.2735T>C (p.Ile912Thr)
|
|
|
|
NM_000548.5(TSC2):c.2742G>A (p.Lys914=)
|
rs137854877
|
|
|
NM_000548.5(TSC2):c.2743-17_2744del
|
|
|
|
NM_000548.5(TSC2):c.2743-9C>G
|
rs397515319
|
|
|
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs)
|
rs1555508929
|
|
|
NM_000548.5(TSC2):c.2772del (p.Phe924fs)
|
rs1555508938
|
|
|
NM_000548.5(TSC2):c.2774A>G (p.Asp925Gly)
|
rs1555508942
|
|
|
NM_000548.5(TSC2):c.2821_2825delinsCGG (p.Asn941fs)
|
|
|
|
NM_000548.5(TSC2):c.2837+1G>A
|
rs45517271
|
|
|
NM_000548.5(TSC2):c.2859dup (p.Lys954fs)
|
rs796053504
|
|
|
NM_000548.5(TSC2):c.2893G>T (p.Glu965Ter)
|
|
|
|
NM_000548.5(TSC2):c.2T>A (p.Met1Lys)
|
rs2084667702
|
|
|
NM_000548.5(TSC2):c.301_303dup (p.Val101_Leu102insVal)
|
|
|
|
NM_000548.5(TSC2):c.3080T>C (p.Leu1027Pro)
|
rs45438192
|
|
|
NM_000548.5(TSC2):c.3082G>A (p.Asp1028Asn)
|
rs45517280
|
|
|
NM_000548.5(TSC2):c.3083A>T (p.Asp1028Val)
|
|
|
|
NM_000548.5(TSC2):c.3086T>G (p.Met1029Arg)
|
|
|
|
NM_000548.5(TSC2):c.3089T>G (p.Met1030Arg)
|
rs1567496821
|
|
|
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro)
|
rs45491698
|
|
|
NM_000548.5(TSC2):c.3096A>G (p.Arg1032=)
|
rs2089803859
|
|
|
NM_000548.5(TSC2):c.311T>C (p.Leu104Pro)
|
rs2085373985
|
|
|
NM_000548.5(TSC2):c.3127A>T (p.Lys1043Ter)
|
|
|
|
NM_000548.5(TSC2):c.3132-1G>C
|
rs45443096
|
|
|
NM_000548.5(TSC2):c.3161dup (p.Gly1055fs)
|
|
|
|
NM_000548.5(TSC2):c.3202A>C (p.Thr1068Pro)
|
rs1060500947
|
|
|
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter)
|
rs397515087
|
|
|
NM_000548.5(TSC2):c.3259del (p.Glu1087fs)
|
rs137854302
|
|
|
NM_000548.5(TSC2):c.3284+1G>A
|
rs45517289
|
|
|
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn)
|
rs1555510754
|
|
|
NM_000548.5(TSC2):c.3337del (p.Glu1113fs)
|
|
|
|
NM_000548.5(TSC2):c.335_336+14del
|
rs1596259720
|
|
|
NM_000548.5(TSC2):c.336+1G>T
|
|
|
|
NM_000548.5(TSC2):c.336+5G>C
|
rs1057523242
|
|
|
NM_000548.5(TSC2):c.3385dup (p.Arg1129fs)
|
|
|
|
NM_000548.5(TSC2):c.3397+1dup
|
|
|
|
NM_000548.5(TSC2):c.3398-1G>C
|
|
|
|
NM_000548.5(TSC2):c.3398-2A>G
|
rs2151455445
|
|
|
NM_000548.5(TSC2):c.3523dup (p.Val1175fs)
|
rs2151459858
|
|
|
NM_000548.5(TSC2):c.3598C>G (p.Arg1200Gly)
|
|
|
|
NM_000548.5(TSC2):c.3610+1G>T
|
rs45517299
|
|
|
NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg)
|
rs1555511663
|
|
|
NM_000548.5(TSC2):c.3611-1G>A
|
|
|
|
NM_000548.5(TSC2):c.3611-1G>C
|
rs45517302
|
|
|
NM_000548.5(TSC2):c.3611-2A>G
|
rs397515169
|
|
|
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu)
|
rs45462194
|
|
|
NM_000548.5(TSC2):c.3616A>C (p.Thr1206Pro)
|
|
|
|
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs)
|
rs1555512486
|
|
|
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs)
|
rs796053505
|
|
|
NM_000548.5(TSC2):c.3833dup (p.Tyr1279fs)
|
|
|
|
NM_000548.5(TSC2):c.3884-1G>T
|
rs137854079
|
|
|
NM_000548.5(TSC2):c.3G>A (p.Met1Ile)
|
rs397515208
|
|
|
NM_000548.5(TSC2):c.4005+1G>T
|
rs45517324
|
|
|
NM_000548.5(TSC2):c.4005+2T>C
|
rs137854254
|
|
|
NM_000548.5(TSC2):c.4006-15_4048del
|
rs2090477253
|
|
|
NM_000548.5(TSC2):c.4006-1G>C
|
rs1085307853
|
|
|
NM_000548.5(TSC2):c.4006-2A>G
|
rs397514941
|
|
|
NM_000548.5(TSC2):c.4011del (p.Ser1338fs)
|
|
|
|
NM_000548.5(TSC2):c.4057del (p.Val1353fs)
|
|
|
|
NM_000548.5(TSC2):c.4316dup (p.Gln1440fs)
|
rs137853988
|
|
|
NM_000548.5(TSC2):c.4351dup (p.Arg1451fs)
|
rs397514939
|
|
|
NM_000548.5(TSC2):c.440C>A (p.Thr147Lys)
|
rs1555497690
|
|
|
NM_000548.5(TSC2):c.4410dup (p.Arg1471fs)
|
|
|
|
NM_000548.5(TSC2):c.4489C>A (p.Pro1497Thr)
|
rs45517344
|
|
|
NM_000548.5(TSC2):c.4494-1G>A
|
rs45517346
|
|
|
NM_000548.5(TSC2):c.4494-3_4498del
|
|
|
|
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)
|
rs45516293
|
|
|
NM_000548.5(TSC2):c.4508A>G (p.Gln1503Arg)
|
rs45516293
|
|
|
NM_000548.5(TSC2):c.4509G>T (p.Gln1503His)
|
rs45517349
|
|
|
NM_000548.5(TSC2):c.4569+2T>C
|
|
|
|
NM_000548.5(TSC2):c.4621_4623del (p.Asp1541del)
|
rs2090626831
|
|
|
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg)
|
rs2090628516
|
|
|
NM_000548.5(TSC2):c.4645T>C (p.Tyr1549His)
|
rs45488595
|
|
|
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys)
|
rs45517355
|
|
|
NM_000548.5(TSC2):c.4662+1G>C
|
rs45514095
|
|
|
NM_000548.5(TSC2):c.4662G>T (p.Gln1554His)
|
rs137854880
|
|
|
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)
|
rs45517360
|
|
|
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro)
|
rs45517362
|
|
|
NM_000548.5(TSC2):c.4692T>G (p.Asn1564Lys)
|
|
|
|
NM_000548.5(TSC2):c.4712A>G (p.Tyr1571Cys)
|
rs45478894
|
|
|
NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser)
|
rs45503995
|
|
|
NM_000548.5(TSC2):c.4751T>G (p.Leu1584Arg)
|
rs137854203
|
|
|
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg)
|
rs45517369
|
|
|
NM_000548.5(TSC2):c.4784G>A (p.Gly1595Glu)
|
|
|
|
NM_000548.5(TSC2):c.4809del (p.Asp1603fs)
|
|
|
|
NM_000548.5(TSC2):c.481+1G>A
|
rs45488500
|
|
|
NM_000548.5(TSC2):c.4813_4827dup (p.Gln1605_Cys1609dup)
|
rs1596439426
|
|
|
NM_000548.5(TSC2):c.482-1G>C
|
rs137854306
|
|
|
NM_000548.5(TSC2):c.4849+1del
|
|
|
|
NM_000548.5(TSC2):c.4859A>G (p.His1620Arg)
|
rs397515177
|
|
|
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del)
|
rs137854261
|
|
|
NM_000548.5(TSC2):c.4919A>C (p.His1640Pro)
|
rs794727602
|
|
|
NM_000548.5(TSC2):c.4919A>G (p.His1640Arg)
|
rs794727602
|
|
|
NM_000548.5(TSC2):c.4936G>C (p.Val1646Leu)
|
rs1064796970
|
|
|
NM_000548.5(TSC2):c.4936G>T (p.Val1646Leu)
|
rs1064796970
|
|
|
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr)
|
rs45471896
|
|
|
NM_000548.5(TSC2):c.4951A>C (p.Asn1651His)
|
|
|
|
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser)
|
rs45517382
|
|
|
NM_000548.5(TSC2):c.4990-1G>A
|
rs1555439650
|
|
|
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln)
|
rs45483392
|
|
|
NM_000548.5(TSC2):c.5024dup (p.Leu1676fs)
|
|
|
|
NM_000548.5(TSC2):c.5067_5068+8del
|
rs1567128655
|
|
|
NM_000548.5(TSC2):c.5068+43_5080del
|
|
|
|
NM_000548.5(TSC2):c.5068G>A (p.Asp1690Asn)
|
rs137854882
|
|
|
NM_000548.5(TSC2):c.5095del (p.Val1699fs)
|
|
|
|
NM_000548.5(TSC2):c.5138G>C (p.Arg1713Pro)
|
rs45517395
|
|
|
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro)
|
rs45517398
|
|
|
NM_000548.5(TSC2):c.5156C>A (p.Ala1719Glu)
|
|
|
|
NM_000548.5(TSC2):c.5160+2_5160+3del
|
rs137854036
|
|
|
NM_000548.5(TSC2):c.5160+5del
|
rs2091103854
|
|
|
NM_000548.5(TSC2):c.5161-37_5161-16del
|
|
|
|
NM_000548.5(TSC2):c.5164G>C (p.Ala1722Pro)
|
rs397515270
|
|
|
NM_000548.5(TSC2):c.5165C>A (p.Ala1722Asp)
|
rs1373235682
|
|
|
NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro)
|
rs45517408
|
|
|
NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter)
|
rs1060499676
|
|
|
NM_000548.5(TSC2):c.5212del (p.Ser1738fs)
|
rs1596460606
|
|
|
NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly)
|
rs45517412
|
|
|
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)
|
rs45507199
|
|
|
NM_000548.5(TSC2):c.5228G>T (p.Arg1743Leu)
|
rs45507199
|
|
|
NM_000548.5(TSC2):c.5237A>C (p.His1746Pro)
|
rs2151631825
|
|
|
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
|
NM_000548.5(TSC2):c.5242_5282del41 (p.Lys1748fs)
|
|
|
|
NM_000548.5(TSC2):c.5252_5259+19del
|
rs137854397
|
|
|
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)
|
rs45517414
|
|
|
NM_000548.5(TSC2):c.5259+1del
|
rs137854317
|
|
|
NM_000548.5(TSC2):c.5260-2A>C
|
rs1374323400
|
|
|
NM_000548.5(TSC2):c.5408_5409insG (p.Phe1803fs)
|
|
|
|
NM_000548.5(TSC2):c.5417_5418del (p.Phe1806fs)
|
|
|
|
NM_000548.5(TSC2):c.5422_5423del (p.Ter1808ArgextTer?)
|
rs137854027
|
|
|
NM_000548.5(TSC2):c.551T>A (p.Val184Asp)
|
rs2085667006
|
|
|
NM_000548.5(TSC2):c.577G>T (p.Glu193Ter)
|
rs45517112
|
|
|
NM_000548.5(TSC2):c.599+1G>C
|
|
|
|
NM_000548.5(TSC2):c.599+5G>A
|
rs45463996
|
|
|
NM_000548.5(TSC2):c.600-2A>G
|
rs45468592
|
|
|
NM_000548.5(TSC2):c.649-1G>A
|
rs794727906
|
|
|
NM_000548.5(TSC2):c.708_765del (p.Pro237fs)
|
rs2151079297
|
|
|
NM_000548.5(TSC2):c.728T>C (p.Leu243Pro)
|
|
|
|
NM_000548.5(TSC2):c.775-1G>A
|
rs45454192
|
|
|
NM_000548.5(TSC2):c.775-2A>G
|
|
|
|
NM_000548.5(TSC2):c.843G>T (p.Glu281Asp)
|
rs2151088094
|
|
|
NM_000548.5(TSC2):c.849-1G>A
|
rs45506396
|
|
|
NM_000548.5(TSC2):c.849-1G>C
|
rs45506396
|
|
|
NM_000548.5(TSC2):c.875_876insTCGCGCCCCTGCT (p.Gly294fs)
|
|
|
|
NM_000548.5(TSC2):c.884C>A (p.Ala295Asp)
|
rs1596288578
|
|
|
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg)
|
rs397515108
|
|
|
NM_000548.5(TSC2):c.973C>T (p.Gln325Ter)
|
rs397515097
|
|
|
NM_000548.5(TSC2):c.975+1G>A
|
rs137854200
|
|
|
NM_000548.5(TSC2):c.976-207_1191del
|
|
|
|
NM_000557.5(GDF5):c.784del (p.Gln262fs)
|
|
|
|
NM_000557.5(GDF5):c.788_810dup (p.Gly271Ter)
|
rs764122274
|
|
|
NM_000701.8(ATP1A1):c.1001A>G (p.Glu334Gly)
|
rs2101045655
|
|
|
NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr)
|
rs1553192086
|
|
|
NM_000701.8(ATP1A1):c.1799C>G (p.Pro600Arg)
|
rs2101055022
|
|
|
NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro)
|
rs1653241392
|
|
|
NM_000701.8(ATP1A1):c.2809_2819del (p.Cys937fs)
|
rs1653448255
|
|
|
NM_000701.8(ATP1A1):c.620C>T (p.Ser207Phe)
|
|
|
|
NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter)
|
rs1555672574
|
|
|
NM_000719.7(CACNA1C):c.1552C>A (p.Arg518Ser)
|
|
|
|
NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp)
|
rs1467561684
|
|
|
NM_000719.7(CACNA1C):c.1832T>C (p.Met611Thr)
|
|
|
|
NM_000719.7(CACNA1C):c.2451del (p.Ala818fs)
|
rs2153231721
|
|
|
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro)
|
rs730880056
|
|
|
NM_000719.7(CACNA1C):c.3061T>C (p.Cys1021Arg)
|
rs1057518301
|
|
|
NM_000719.7(CACNA1C):c.3085A>G (p.Ile1029Val)
|
|
|
|
NM_000719.7(CACNA1C):c.3139G>A (p.Gly1047Arg)
|
rs2075024622
|
|
|
NM_000719.7(CACNA1C):c.3487G>A (p.Gly1163Ser)
|
|
|
|
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly)
|
rs794727587
|
|
|
NM_000719.7(CACNA1C):c.583T>C (p.Trp195Arg)
|
rs2154562876
|
|
|
NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala)
|
rs2099444326
|
|
|
NM_000719.7(CACNA1C):c.788A>T (p.Lys263Met)
|
|
|
|
NM_000719.7(CACNA1C):c.794T>A (p.Met265Lys)
|
|
|
|
NM_000827.4(GRIA1):c.1538G>A (p.Gly513Glu)
|
|
|
|
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr)
|
rs587776937
|
|
|
NM_000827.4(GRIA1):c.2615G>C (p.Ser872Thr)
|
|
|
|
NM_000834.5(GRIN2B):c.1068C>A (p.Tyr356Ter)
|
|
|
|
NM_000834.5(GRIN2B):c.1079C>T (p.Pro360Leu)
|
|
|
|
NM_000834.5(GRIN2B):c.1237G>A (p.Glu413Lys)
|
|
|
|
NM_000834.5(GRIN2B):c.1280G>T (p.Gly427Val)
|
rs1591643530
|
|
|
NM_000834.5(GRIN2B):c.1287C>A (p.Cys429Ter)
|
rs747172511
|
|
|
NM_000834.5(GRIN2B):c.1306T>C (p.Cys436Arg)
|
rs1565478152
|
|
|
NM_000834.5(GRIN2B):c.1308C>A (p.Cys436Ter)
|
|
|
|
NM_000834.5(GRIN2B):c.1367G>A (p.Cys456Tyr)
|
rs397514555
|
|
|
NM_000834.5(GRIN2B):c.1382G>T (p.Cys461Phe)
|
rs1949427787
|
|
|
NM_000834.5(GRIN2B):c.1458T>A (p.His486Gln)
|
rs763436882
|
|
|
NM_000834.5(GRIN2B):c.1495G>A (p.Gly499Arg)
|
rs867553974
|
|
|
NM_000834.5(GRIN2B):c.1496G>T (p.Gly499Val)
|
rs1949425904
|
|
|
NM_000834.5(GRIN2B):c.1500+1G>A
|
|
|
|
NM_000834.5(GRIN2B):c.1540A>G (p.Thr514Ala)
|
rs1949421055
|
|
|
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser)
|
rs886041295
|
|
|
NM_000834.5(GRIN2B):c.1549G>A (p.Glu517Lys)
|
|
|
|
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
|
|
|
|
NM_000834.5(GRIN2B):c.1573T>G (p.Phe525Val)
|
rs1949420397
|
|
|
NM_000834.5(GRIN2B):c.1607T>C (p.Val536Ala)
|
|
|
|
NM_000834.5(GRIN2B):c.1618C>T (p.Arg540Cys)
|
|
|
|
NM_000834.5(GRIN2B):c.1619G>A (p.Arg540His)
|
rs672601378
|
|
|
NM_000834.5(GRIN2B):c.1627G>A (p.Gly543Arg)
|
|
|
|
NM_000834.5(GRIN2B):c.1646C>T (p.Ala549Val)
|
|
|
|
NM_000834.5(GRIN2B):c.1658C>T (p.Pro553Leu)
|
rs397514556
|
|
|
NM_000834.5(GRIN2B):c.1664G>T (p.Ser555Ile)
|
rs1949369220
|
|
|
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile)
|
rs1057519004
|
|
|
NM_000834.5(GRIN2B):c.1675T>C (p.Trp559Arg)
|
rs1949368959
|
|
|
NM_000834.5(GRIN2B):c.1685T>G (p.Met562Arg)
|
rs1949368766
|
|
|
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1])
|
rs1555111511
|
|
|
NM_000834.5(GRIN2B):c.1821G>C (p.Trp607Cys)
|
rs1057518700
|
|
|
NM_000834.5(GRIN2B):c.1821G>T (p.Trp607Cys)
|
rs1057518700
|
|
|
NM_000834.5(GRIN2B):c.1831G>C (p.Gly611Arg)
|
rs2136470509
|
|
|
NM_000834.5(GRIN2B):c.1832G>T (p.Gly611Val)
|
rs1555110843
|
|
|
NM_000834.5(GRIN2B):c.1844A>T (p.Asn615Ile)
|
rs672601377
|
|
|
NM_000834.5(GRIN2B):c.1845C>G (p.Asn615Lys)
|
rs1949321538
|
|
|
NM_000834.5(GRIN2B):c.1847A>G (p.Asn616Ser)
|
rs1949321492
|
|
|
NM_000834.5(GRIN2B):c.1848C>G (p.Asn616Lys)
|
rs1949321461
|
|
|
NM_000834.5(GRIN2B):c.1852G>A (p.Val618Ile)
|
|
|
|
NM_000834.5(GRIN2B):c.1853T>G (p.Val618Gly)
|
rs672601376
|
|
|
NM_000834.5(GRIN2B):c.1858G>A (p.Val620Met)
|
rs796052571
|
|
|
NM_000834.5(GRIN2B):c.1883C>G (p.Ser628Cys)
|
rs1949320966
|
|
|
NM_000834.5(GRIN2B):c.1883C>T (p.Ser628Phe)
|
rs1949320966
|
|
|
NM_000834.5(GRIN2B):c.1906G>C (p.Ala636Pro)
|
rs1949320812
|
|
|
NM_000834.5(GRIN2B):c.1907C>T (p.Ala636Val)
|
rs1555110818
|
|
|
NM_000834.5(GRIN2B):c.1916C>T (p.Ala639Val)
|
rs797044930
|
|
|
NM_000834.5(GRIN2B):c.1928T>C (p.Leu643Pro)
|
rs2136470302
|
|
|
NM_000834.5(GRIN2B):c.1946A>C (p.Asn649Thr)
|
rs879253945
|
|
|
NM_000834.5(GRIN2B):c.1963A>T (p.Ile655Phe)
|
rs1949320223
|
|
|
NM_000834.5(GRIN2B):c.1970A>G (p.Glu657Gly)
|
rs876661041
|
|
|
NM_000834.5(GRIN2B):c.1971G>C (p.Glu657Asp)
|
rs771157135
|
|
|
NM_000834.5(GRIN2B):c.1985A>C (p.Gln662Pro)
|
rs1949319877
|
|
|
NM_000834.5(GRIN2B):c.2002G>T (p.Asp668Tyr)
|
rs876661151
|
|
|
NM_000834.5(GRIN2B):c.2010+1G>C
|
|
|
|
NM_000834.5(GRIN2B):c.2011-2_2038dup
|
rs1591612370
|
|
|
NM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys)
|
rs387906636
|
|
|
NM_000834.5(GRIN2B):c.2045G>A (p.Arg682His)
|
rs886041095
|
|
|
NM_000834.5(GRIN2B):c.2060C>G (p.Pro687Arg)
|
rs1555103986
|
|
|
NM_000834.5(GRIN2B):c.2060C>T (p.Pro687Leu)
|
rs1555103986
|
|
|
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
|
|
|
|
NM_000834.5(GRIN2B):c.2079A>T (p.Arg693Ser)
|
rs1948713322
|
|
|
NM_000834.5(GRIN2B):c.2081A>G (p.Asn694Ser)
|
rs1591612317
|
|
|
NM_000834.5(GRIN2B):c.2084T>C (p.Ile695Thr)
|
rs876661219
|
|
|
NM_000834.5(GRIN2B):c.2086C>T (p.Arg696Cys)
|
|
|
|
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His)
|
rs1555103971
|
|
|
NM_000834.5(GRIN2B):c.2116A>G (p.Met706Val)
|
rs1057518988
|
|
|
NM_000834.5(GRIN2B):c.2125T>G (p.Phe709Val)
|
rs1591612279
|
|
|
NM_000834.5(GRIN2B):c.2196T>G (p.Asp732Glu)
|
rs1591611001
|
|
|
NM_000834.5(GRIN2B):c.2201C>T (p.Ala734Val)
|
rs876661064
|
|
|
NM_000834.5(GRIN2B):c.2216T>C (p.Met739Thr)
|
rs1555103652
|
|
|
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr)
|
rs876661055
|
|
|
NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro)
|
rs1948653017
|
|
|
NM_000834.5(GRIN2B):c.2419G>A (p.Glu807Lys)
|
rs1948652687
|
|
|
NM_000834.5(GRIN2B):c.2429G>A (p.Ser810Asn)
|
rs1591609136
|
|
|
NM_000834.5(GRIN2B):c.2437C>G (p.Leu813Val)
|
rs1948652423
|
|
|
NM_000834.5(GRIN2B):c.2450A>G (p.Asn817Ser)
|
rs1555103159
|
|
|
NM_000834.5(GRIN2B):c.2452A>C (p.Met818Leu)
|
rs876661076
|
|
|
NM_000834.5(GRIN2B):c.2453T>A (p.Met818Lys)
|
|
|
|
NM_000834.5(GRIN2B):c.2453T>C (p.Met818Thr)
|
rs879254016
|
|
|
NM_000834.5(GRIN2B):c.2454G>A (p.Met818Ile)
|
rs2136409777
|
|
|
NM_000834.5(GRIN2B):c.2455G>A (p.Ala819Thr)
|
rs1948652117
|
|
|
NM_000834.5(GRIN2B):c.2456C>T (p.Ala819Val)
|
|
|
|
NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu)
|
rs797044849
|
|
|
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala)
|
rs797044849
|
|
|
NM_000834.5(GRIN2B):c.2459G>T (p.Gly820Val)
|
rs797044849
|
|
|
NM_000834.5(GRIN2B):c.2471T>A (p.Met824Lys)
|
|
|
|
NM_000834.5(GRIN2B):c.2471T>G (p.Met824Arg)
|
rs1565455878
|
|
|
NM_000834.5(GRIN2B):c.2472G>A (p.Met824Ile)
|
rs2136409732
|
|
|
NM_000834.5(GRIN2B):c.2473T>G (p.Leu825Val)
|
rs1948651813
|
|
|
NM_000834.5(GRIN2B):c.2477G>A (p.Gly826Glu)
|
rs1064794979
|
|
|
NM_000834.5(GRIN2B):c.2511_2512del (p.Ile837fs)
|
|
|
|
NM_000834.5(GRIN2B):c.2555G>C (p.Gly852Ala)
|
rs1168374610
|
|
|
NM_000834.5(GRIN2B):c.2591del (p.Ile864fs)
|
|
|
|
NM_000834.5(GRIN2B):c.2684_2685del (p.His895fs)
|
|
|
|
NM_000834.5(GRIN2B):c.2823del (p.Phe941fs)
|
|
|
|
NM_000834.5(GRIN2B):c.3259del (p.Asp1087fs)
|
rs2136405082
|
|
|
NM_000834.5(GRIN2B):c.3332G>A (p.Arg1111His)
|
rs876661167
|
|
|
NM_000834.5(GRIN2B):c.3391del (p.Asp1131fs)
|
|
|
|
NM_000834.5(GRIN2B):c.3912C>G (p.Tyr1304Ter)
|
rs1407009840
|
|
|
NM_000834.5(GRIN2B):c.412-2A>G
|
rs2136629609
|
|
|
NM_000834.5(GRIN2B):c.4256C>T (p.Pro1419Leu)
|
|
|
|
NM_000834.5(GRIN2B):c.448A>G (p.Ile150Val)
|
rs796052570
|
|
|
NM_000834.5(GRIN2B):c.509C>T (p.Ser170Phe)
|
|
|
|
NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val)
|
|
|
|
NM_000834.5(GRIN2B):c.99dup (p.Ser34fs)
|
rs398122823
|
|
|
NM_000899.5(KITLG):c.16-2A>G
|
|
|
|
NM_000899.5(KITLG):c.715-2A>G
|
|
|
|
NM_000965.5(RARB):c.638T>C (p.Leu213Pro)
|
rs869025222
|
|
|
NM_001001331.4(ATP2B2):c.3430G>A (p.Val1144Met)
|
|
|
|
NM_001001331.4(ATP2B2):c.945dup (p.Asp316fs)
|
|
|
|
NM_001003694.2(BRPF1):c.1038del (p.Arg347fs)
|
rs2125500625
|
|
|
NM_001003694.2(BRPF1):c.1158dup (p.Tyr387fs)
|
rs2076994968
|
|
|
NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter)
|
rs2125501418
|
|
|
NM_001003694.2(BRPF1):c.1612C>T (p.Gln538Ter)
|
|
|
|
NM_001003694.2(BRPF1):c.1667T>A (p.Leu556Ter)
|
rs2125503212
|
|
|
NM_001003694.2(BRPF1):c.1755_1756delinsT (p.Lys585fs)
|
rs1559662068
|
|
|
NM_001003694.2(BRPF1):c.1759C>T (p.Gln587Ter)
|
rs1559662077
|
|
|
NM_001003694.2(BRPF1):c.2004_2005del (p.Val668_Pro669insTer)
|
|
|
|
NM_001003694.2(BRPF1):c.2921-2A>C
|
|
|
|
NM_001003694.2(BRPF1):c.2T>G (p.Met1Arg)
|
rs2125489641
|
|
|
NM_001003694.2(BRPF1):c.3068+1G>T
|
rs2077101479
|
|
|
NM_001003694.2(BRPF1):c.3069-1G>A
|
|
|
|
NM_001003694.2(BRPF1):c.3263dup (p.Leu1089fs)
|
rs2125515297
|
|
|
NM_001003694.2(BRPF1):c.3456CTT[1] (p.Phe1154del)
|
rs1553697341
|
|
|
NM_001003694.2(BRPF1):c.67T>C (p.Cys23Arg)
|
rs2076901423
|
|
|
NM_001003694.2(BRPF1):c.898G>A (p.Val300Met)
|
rs2125500407
|
|
|
NM_001005361.3(DNM2):c.1021G>A (p.Glu341Lys)
|
rs864309705
|
|
|
NM_001005361.3(DNM2):c.1070C>T (p.Ser357Phe)
|
rs1064793101
|
|
|
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)
|
rs267606772
|
|
|
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)
|
rs121909092
|
|
|
NM_001005361.3(DNM2):c.1115T>C (p.Phe372Ser)
|
rs2146014404
|
|
|
NM_001005361.3(DNM2):c.1463C>G (p.Thr488Arg)
|
rs746903992
|
|
|
NM_001005361.3(DNM2):c.1564C>T (p.Arg522Cys)
|
rs2072577342
|
|
|
NM_001005361.3(DNM2):c.1678G>A (p.Glu560Lys)
|
rs879254086
|
|
|
NM_001005361.3(DNM2):c.1781G>A (p.Arg594Lys)
|
|
|
|
NM_001005361.3(DNM2):c.1840G>A (p.Asp614Asn)
|
|
|
|
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)
|
rs121909095
|
|
|
NM_001009944.3(PKD1):c.10051-1G>T
|
rs1245329669
|
|
|
NM_001009944.3(PKD1):c.10051-2A>G
|
|
|
|
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)
|
|
|
|
NM_001009944.3(PKD1):c.10167+25_10167+43del
|
rs1197421698
|
|
|
NM_001009944.3(PKD1):c.10220+1G>C
|
|
|
|
NM_001009944.3(PKD1):c.10233G>A (p.Trp3411Ter)
|
|
|
|
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter)
|
rs2151726823
|
|
|
NM_001009944.3(PKD1):c.10405G>A (p.Asp3469Asn)
|
|
|
|
NM_001009944.3(PKD1):c.10441del (p.Val3481fs)
|
rs2091884240
|
|
|
NM_001009944.3(PKD1):c.10441dup (p.Val3481fs)
|
|
|
|
NM_001009944.3(PKD1):c.10694T>G (p.Leu3565Arg)
|
rs2091727215
|
|
|
NM_001009944.3(PKD1):c.10698GGCTGT[1] (p.3567AV[1])
|
|
|
|
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2])
|
rs777460677
|
|
|
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4])
|
rs777460677
|
|
|
NM_001009944.3(PKD1):c.10796C>T (p.Ser3599Leu)
|
|
|
|
NM_001009944.3(PKD1):c.10804G>C (p.Gly3602Arg)
|
|
|
|
NM_001009944.3(PKD1):c.10810G>A (p.Glu3604Lys)
|
rs2091722550
|
|
|
NM_001009944.3(PKD1):c.10821+1G>A
|
rs1596488823
|
|
|
NM_001009944.3(PKD1):c.10822-2A>G
|
rs2151707926
|
|
|
NM_001009944.3(PKD1):c.10822-3C>G
|
|
|
|
NM_001009944.3(PKD1):c.10942C>A (p.Pro3648Thr)
|
rs2091706456
|
|
|
NM_001009944.3(PKD1):c.10946C>G (p.Pro3649Arg)
|
rs2091706289
|
|
|
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val)
|
rs1483214870
|
|
|
NM_001009944.3(PKD1):c.10960C>G (p.Leu3654Val)
|
|
|
|
NM_001009944.3(PKD1):c.11016+1G>C
|
|
|
|
NM_001009944.3(PKD1):c.11017-10C>A
|
rs555703777
|
|
|
NM_001009944.3(PKD1):c.11017-1G>C
|
|
|
|
NM_001009944.3(PKD1):c.11017-25A>C
|
rs2151704874
|
|
|
NM_001009944.3(PKD1):c.11017-25A>G
|
|
|
|
NM_001009944.3(PKD1):c.11017-47_11022del
|
rs2091672168
|
|
|
NM_001009944.3(PKD1):c.11048dup (p.Thr3684fs)
|
rs1596485991
|
|
|
NM_001009944.3(PKD1):c.11078C>A (p.Ser3693Ter)
|
rs745912756
|
|
|
NM_001009944.3(PKD1):c.11122_11156+1del
|
|
|
|
NM_001009944.3(PKD1):c.11172G>C (p.Trp3724Cys)
|
rs866331895
|
|
|
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg)
|
rs1555446411
|
|
|
NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro)
|
rs546924823
|
|
|
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)
|
rs1327414405
|
|
|
NM_001009944.3(PKD1):c.11249G>C (p.Arg3750Pro)
|
rs1327414405
|
|
|
NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del)
|
rs1567154953
|
|
|
NM_001009944.3(PKD1):c.11253G>T (p.Gln3751His)
|
|
|
|
NM_001009944.3(PKD1):c.11257C>G (p.Arg3753Gly)
|
|
|
|
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln)
|
rs1555446330
|
|
|
NM_001009944.3(PKD1):c.11269+1G>T
|
|
|
|
NM_001009944.3(PKD1):c.11270-1G>T
|
|
|
|
NM_001009944.3(PKD1):c.11289_11299del (p.Gly3764fs)
|
rs2151699891
|
|
|
NM_001009944.3(PKD1):c.11294_11313del (p.Pro3765fs)
|
rs2091620612
|
|
|
NM_001009944.3(PKD1):c.112del (p.Leu38fs)
|
rs2092941002
|
|
|
NM_001009944.3(PKD1):c.11305_11306del (p.Thr3769fs)
|
rs1555446053
|
|
|
NM_001009944.3(PKD1):c.11308_11312dup (p.Ala3773fs)
|
|
|
|
NM_001009944.3(PKD1):c.1132C>T (p.Gln378Ter)
|
|
|
|
NM_001009944.3(PKD1):c.11340_11345del (p.Tyr3781_Asp3782del)
|
rs2091618795
|
|
|
NM_001009944.3(PKD1):c.11341_11343del (p.Tyr3781del)
|
rs2091619119
|
|
|
NM_001009944.3(PKD1):c.11342ACG[3] (p.Asp3782_Val3783insAsp)
|
|
|
|
NM_001009944.3(PKD1):c.11367_11368del (p.His3789fs)
|
rs2091616873
|
|
|
NM_001009944.3(PKD1):c.11375C>A (p.Ser3792Ter)
|
rs770667157
|
|
|
NM_001009944.3(PKD1):c.11390A>G (p.Tyr3797Cys)
|
rs138629093
|
|
|
NM_001009944.3(PKD1):c.11411+1G>T
|
|
|
|
NM_001009944.3(PKD1):c.11411+2T>C
|
|
|
|
NM_001009944.3(PKD1):c.11412-2A>G
|
|
|
|
NM_001009944.3(PKD1):c.11416T>G (p.Trp3806Gly)
|
rs2091602155
|
|
|
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys)
|
rs2151698069
|
|
|
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp)
|
rs1555445740
|
|
|
NM_001009944.3(PKD1):c.11453del (p.Gly3818fs)
|
rs1567153194
|
|
|
NM_001009944.3(PKD1):c.11467_11480del (p.Leu3823fs)
|
|
|
|
NM_001009944.3(PKD1):c.11530G>C (p.Asp3844His)
|
rs2151697614
|
|
|
NM_001009944.3(PKD1):c.11537+2T>A
|
rs2151697557
|
|
|
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro)
|
rs2092665731
|
|
|
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro)
|
rs2151695909
|
|
|
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)
|
rs1555445585
|
|
|
NM_001009944.3(PKD1):c.11565_11571dup (p.Ser3858fs)
|
rs2091579496
|
|
|
NM_001009944.3(PKD1):c.11595_11605dup (p.Leu3869fs)
|
|
|
|
NM_001009944.3(PKD1):c.11606T>G (p.Leu3869Arg)
|
rs1555445569
|
|
|
NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln)
|
rs2091577195
|
|
|
NM_001009944.3(PKD1):c.11633_11660dup (p.Phe3888fs)
|
rs2151695288
|
|
|
NM_001009944.3(PKD1):c.11657G>C (p.Arg3886Pro)
|
|
|
|
NM_001009944.3(PKD1):c.11661del (p.Phe3888fs)
|
rs2151695275
|
|
|
NM_001009944.3(PKD1):c.116G>A (p.Cys39Tyr)
|
rs2151858290
|
|
|
NM_001009944.3(PKD1):c.11711C>G (p.Ser3904Trp)
|
rs2091571469
|
|
|
NM_001009944.3(PKD1):c.11713-1G>T
|
|
|
|
NM_001009944.3(PKD1):c.11713-2A>T
|
|
|
|
NM_001009944.3(PKD1):c.11713-2_11718dup
|
|
|
|
NM_001009944.3(PKD1):c.11741dup (p.Ala3915fs)
|
|
|
|
NM_001009944.3(PKD1):c.11765_11790dup (p.Leu3931fs)
|
|
|
|
NM_001009944.3(PKD1):c.117C>A (p.Cys39Ter)
|
|
|
|
NM_001009944.3(PKD1):c.11860G>C (p.Ala3954Pro)
|
|
|
|
NM_001009944.3(PKD1):c.11888G>A (p.Trp3963Ter)
|
|
|
|
NM_001009944.3(PKD1):c.1189G>T (p.Glu397Ter)
|
|
|
|
NM_001009944.3(PKD1):c.11962dup (p.Arg3988fs)
|
|
|
|
NM_001009944.3(PKD1):c.11987_11988insA (p.Phe3996fs)
|
|
|
|
NM_001009944.3(PKD1):c.12003+1G>C
|
|
|
|
NM_001009944.3(PKD1):c.12004-2A>C
|
rs2091475604
|
|
|
NM_001009944.3(PKD1):c.1201+1G>A
|
rs1596588978
|
|
|
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter)
|
|
|
|
NM_001009944.3(PKD1):c.1202-11C>G
|
|
|
|
NM_001009944.3(PKD1):c.12020G>A (p.Arg4007His)
|
|
|
|
NM_001009944.3(PKD1):c.12162_12165del (p.Leu4055fs)
|
|
|
|
NM_001009944.3(PKD1):c.12215_12216del (p.Ser4072fs)
|
|
|
|
NM_001009944.3(PKD1):c.12246_12247del (p.Ser4083fs)
|
|
|
|
NM_001009944.3(PKD1):c.12267del (p.Leu4090fs)
|
|
|
|
NM_001009944.3(PKD1):c.12290dup (p.Ala4098fs)
|
|
|
|
NM_001009944.3(PKD1):c.12326_12335del (p.Arg4109fs)
|
rs2091440547
|
|
|
NM_001009944.3(PKD1):c.12332_12336del (p.His4111fs)
|
|
|
|
NM_001009944.3(PKD1):c.12357del (p.Pro4120fs)
|
|
|
|
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del)
|
rs1555444468
|
|
|
NM_001009944.3(PKD1):c.12393GTT[1] (p.Leu4132del)
|
|
|
|
NM_001009944.3(PKD1):c.12445-1G>C
|
|
|
|
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His)
|
rs36221080
|
|
|
NM_001009944.3(PKD1):c.12463T>C (p.Phe4155Leu)
|
|
|
|
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu)
|
rs2091413514
|
|
|
NM_001009944.3(PKD1):c.12475G>T (p.Glu4159Ter)
|
|
|
|
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs)
|
rs2091411664
|
|
|
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs)
|
rs1555444225
|
|
|
NM_001009944.3(PKD1):c.12554C>A (p.Ser4185Ter)
|
|
|
|
NM_001009944.3(PKD1):c.12609del (p.Leu4204fs)
|
|
|
|
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys)
|
rs1567216536
|
|
|
NM_001009944.3(PKD1):c.12624_12625dup (p.Glu4209fs)
|
|
|
|
NM_001009944.3(PKD1):c.12657_12658delinsAT (p.Phe4219_Glu4220delinsLeuTer)
|
|
|
|
NM_001009944.3(PKD1):c.1265T>C (p.Leu422Pro)
|
rs2092661241
|
|
|
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro)
|
rs1064797205
|
|
|
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
|
rs755496450
|
|
|
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)
|
rs1045675831
|
|
|
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter)
|
rs2091391674
|
|
|
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter)
|
rs1181168635
|
|
|
NM_001009944.3(PKD1):c.12728_12756del (p.Leu4243fs)
|
|
|
|
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr)
|
rs2092660647
|
|
|
NM_001009944.3(PKD1):c.1295C>A (p.Ala432Glu)
|
rs1060499699
|
|
|
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val)
|
rs1060499699
|
|
|
NM_001009944.3(PKD1):c.1307G>T (p.Cys436Phe)
|
rs2092660360
|
|
|
NM_001009944.3(PKD1):c.1312dup (p.Ala438fs)
|
|
|
|
NM_001009944.3(PKD1):c.1391T>C (p.Leu464Pro)
|
|
|
|
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met)
|
rs2855341
|
|
|
NM_001009944.3(PKD1):c.1396G>C (p.Val466Leu)
|
|
|
|
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs)
|
rs2151820943
|
|
|
NM_001009944.3(PKD1):c.1488delinsTC (p.Gly498fs)
|
|
|
|
NM_001009944.3(PKD1):c.1529G>C (p.Arg510Pro)
|
|
|
|
NM_001009944.3(PKD1):c.1540_1549del (p.Thr514fs)
|
rs2151820655
|
|
|
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg)
|
rs1555458704
|
|
|
NM_001009944.3(PKD1):c.1543G>T (p.Gly515Trp)
|
rs1555458704
|
|
|
NM_001009944.3(PKD1):c.1606+5G>T
|
|
|
|
NM_001009944.3(PKD1):c.1607-2A>C
|
|
|
|
NM_001009944.3(PKD1):c.1620_1621del (p.Ala541fs)
|
|
|
|
NM_001009944.3(PKD1):c.1653_1654dup (p.Asp552fs)
|
|
|
|
NM_001009944.3(PKD1):c.1722+1G>T
|
rs1567214706
|
|
|
NM_001009944.3(PKD1):c.1722+2T>C
|
rs886041836
|
|
|
NM_001009944.3(PKD1):c.1723-1G>C
|
rs1596582948
|
|
|
NM_001009944.3(PKD1):c.1830C>G (p.Tyr610Ter)
|
|
|
|
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)
|
rs1555458413
|
|
|
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)
|
|
|
|
NM_001009944.3(PKD1):c.2037del (p.Tyr680fs)
|
|
|
|
NM_001009944.3(PKD1):c.2038del (p.Tyr680fs)
|
rs1448641464
|
|
|
NM_001009944.3(PKD1):c.2069T>A (p.Val690Asp)
|
|
|
|
NM_001009944.3(PKD1):c.2078_2089dup (p.Ala696_Gln697insArgProProAla)
|
rs2092614761
|
|
|
NM_001009944.3(PKD1):c.2081_2085dup (p.Ala696fs)
|
|
|
|
NM_001009944.3(PKD1):c.2093_2097+2del
|
|
|
|
NM_001009944.3(PKD1):c.2095T>C (p.Ser699Pro)
|
|
|
|
NM_001009944.3(PKD1):c.2096del (p.Ser699fs)
|
|
|
|
NM_001009944.3(PKD1):c.2097+1G>A
|
rs2151816064
|
|
|
NM_001009944.3(PKD1):c.215+2T>G
|
|
|
|
NM_001009944.3(PKD1):c.215+5G>A
|
|
|
|
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln)
|
rs1616940
|
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
|
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg)
|
rs1616940
|
|
|
NM_001009944.3(PKD1):c.224C>T (p.Ser75Phe)
|
|
|
|
NM_001009944.3(PKD1):c.2262dup (p.Pro755fs)
|
|
|
|
NM_001009944.3(PKD1):c.2285G>A (p.Trp762Ter)
|
|
|
|
NM_001009944.3(PKD1):c.230A>G (p.Asn77Ser)
|
rs2092686792
|
|
|
NM_001009944.3(PKD1):c.2427_2428del (p.His809fs)
|
|
|
|
NM_001009944.3(PKD1):c.2484C>A (p.Tyr828Ter)
|
|
|
|
NM_001009944.3(PKD1):c.2534T>A (p.Leu845Ter)
|
rs199476100
|
|
|
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)
|
rs199476100
|
|
|
NM_001009944.3(PKD1):c.2543A>C (p.Gln848Pro)
|
|
|
|
NM_001009944.3(PKD1):c.2558_2634del (p.Ala853fs)
|
|
|
|
NM_001009944.3(PKD1):c.2667dup (p.Asn890fs)
|
rs2092593686
|
|
|
NM_001009944.3(PKD1):c.2716G>T (p.Glu906Ter)
|
rs2151812964
|
|
|
NM_001009944.3(PKD1):c.2720ACGTGGTGG[1] (p.Asp910_Val912del)
|
rs2092591934
|
|
|
NM_001009944.3(PKD1):c.2729_2730del (p.Asp910fs)
|
|
|
|
NM_001009944.3(PKD1):c.2730_2741del (p.Asp910_Val913del)
|
|
|
|
NM_001009944.3(PKD1):c.278T>C (p.Leu93Pro)
|
rs2151826530
|
|
|
NM_001009944.3(PKD1):c.2861del (p.Ser954fs)
|
rs1555457482
|
|
|
NM_001009944.3(PKD1):c.2865dup (p.Val956fs)
|
|
|
|
NM_001009944.3(PKD1):c.2877_2880del (p.Gly960fs)
|
rs2151809215
|
|
|
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp)
|
rs1567208088
|
|
|
NM_001009944.3(PKD1):c.290A>G (p.Asp97Gly)
|
rs2092684310
|
|
|
NM_001009944.3(PKD1):c.297CAA[2] (p.Asn101del)
|
|
|
|
NM_001009944.3(PKD1):c.2985+2_2985+4del
|
|
|
|
NM_001009944.3(PKD1):c.3015_3032del (p.Asn1008_Val1013del)
|
|
|
|
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del)
|
rs1567207029
|
|
|
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys)
|
rs2092684130
|
|
|
NM_001009944.3(PKD1):c.305_307del (p.Lys102del)
|
rs1567219527
|
|
|
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del)
|
rs2151806438
|
|
|
NM_001009944.3(PKD1):c.3161+1G>T
|
|
|
|
NM_001009944.3(PKD1):c.3161+5G>C
|
|
|
|
NM_001009944.3(PKD1):c.3162-1G>C
|
|
|
|
NM_001009944.3(PKD1):c.3165G>A (p.Trp1055Ter)
|
|
|
|
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser)
|
rs2151804604
|
|
|
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter)
|
rs2092538738
|
|
|
NM_001009944.3(PKD1):c.3218del (p.Glu1073fs)
|
|
|
|
NM_001009944.3(PKD1):c.3262_3263insT (p.Glu1088fs)
|
rs1596566156
|
|
|
NM_001009944.3(PKD1):c.3284A>G (p.Tyr1095Cys)
|
|
|
|
NM_001009944.3(PKD1):c.3295+1G>A
|
|
|
|
NM_001009944.3(PKD1):c.3296-4_3304del
|
|
|
|
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs)
|
|
|
|
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs)
|
rs1567204146
|
|
|
NM_001009944.3(PKD1):c.3436T>G (p.Phe1146Val)
|
rs1555456744
|
|
|
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del)
|
rs1320867301
|
|
|
NM_001009944.3(PKD1):c.3466_3467dup (p.Leu1158fs)
|
|
|
|
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg)
|
rs2151801188
|
|
|
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys)
|
rs1458516705
|
|
|
NM_001009944.3(PKD1):c.359+3A>T
|
rs2151826018
|
|
|
NM_001009944.3(PKD1):c.359+5G>A
|
rs2092683412
|
|
|
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)
|
rs1555459345
|
|
|
NM_001009944.3(PKD1):c.3665_3684delinsACATGA (p.Ala1222fs)
|
|
|
|
NM_001009944.3(PKD1):c.3696CGC[1] (p.Ala1234del)
|
rs2092503169
|
|
|
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)
|
rs1567202750
|
|
|
NM_001009944.3(PKD1):c.3741G>C (p.Met1247Ile)
|
|
|
|
NM_001009944.3(PKD1):c.3746A>C (p.Asp1249Ala)
|
rs2092501507
|
|
|
NM_001009944.3(PKD1):c.3777_3778del (p.Val1260fs)
|
|
|
|
NM_001009944.3(PKD1):c.3804_3805del (p.Asn1269fs)
|
rs1596561773
|
|
|
NM_001009944.3(PKD1):c.380T>G (p.Phe127Cys)
|
rs2092679766
|
|
|
NM_001009944.3(PKD1):c.385T>C (p.Cys129Arg)
|
|
|
|
NM_001009944.3(PKD1):c.3860T>C (p.Leu1287Pro)
|
|
|
|
NM_001009944.3(PKD1):c.3865dup (p.Val1289fs)
|
|
|
|
NM_001009944.3(PKD1):c.3982T>C (p.Trp1328Arg)
|
|
|
|
NM_001009944.3(PKD1):c.3984G>C (p.Trp1328Cys)
|
rs2151799171
|
|
|
NM_001009944.3(PKD1):c.3999del (p.Ser1334fs)
|
|
|
|
NM_001009944.3(PKD1):c.4070T>C (p.Leu1357Pro)
|
rs2151798827
|
|
|
NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs)
|
rs1555456208
|
|
|
NM_001009944.3(PKD1):c.417G>C (p.Trp139Cys)
|
|
|
|
NM_001009944.3(PKD1):c.4234T>G (p.Tyr1412Asp)
|
|
|
|
NM_001009944.3(PKD1):c.4241G>C (p.Trp1414Ser)
|
rs2151798259
|
|
|
NM_001009944.3(PKD1):c.4264del (p.Ala1422fs)
|
|
|
|
NM_001009944.3(PKD1):c.4296_4298del (p.Phe1433del)
|
|
|
|
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del)
|
rs2092482302
|
|
|
NM_001009944.3(PKD1):c.4379T>G (p.Val1460Gly)
|
rs2151797664
|
|
|
NM_001009944.3(PKD1):c.4462T>C (p.Ser1488Pro)
|
rs773746552
|
|
|
NM_001009944.3(PKD1):c.4507G>A (p.Gly1503Arg)
|
rs2092478372
|
|
|
NM_001009944.3(PKD1):c.4511del (p.Asp1504fs)
|
|
|
|
NM_001009944.3(PKD1):c.4550A>G (p.Tyr1517Cys)
|
|
|
|
NM_001009944.3(PKD1):c.458C>A (p.Ala153Asp)
|
rs2092678870
|
|
|
NM_001009944.3(PKD1):c.4630G>A (p.Val1544Met)
|
|
|
|
NM_001009944.3(PKD1):c.4639dup (p.Arg1547fs)
|
|
|
|
NM_001009944.3(PKD1):c.4651del (p.Leu1551fs)
|
|
|
|
NM_001009944.3(PKD1):c.4696_4701del (p.Val1566_Ser1567del)
|
|
|
|
NM_001009944.3(PKD1):c.471_478dup (p.Ser160fs)
|
|
|
|
NM_001009944.3(PKD1):c.4746G>T (p.Trp1582Cys)
|
|
|
|
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)
|
rs1567198691
|
|
|
NM_001009944.3(PKD1):c.488G>T (p.Gly163Val)
|
rs1282205691
|
|
|
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter)
|
rs1596557065
|
|
|
NM_001009944.3(PKD1):c.4981_4983del (p.Asn1661del)
|
|
|
|
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del)
|
rs1596556896
|
|
|
NM_001009944.3(PKD1):c.5115del (p.Ser1705fs)
|
|
|
|
NM_001009944.3(PKD1):c.5130_5146dup (p.Glu1716fs)
|
|
|
|
NM_001009944.3(PKD1):c.5271del (p.Gly1757_Leu1758insTer)
|
|
|
|
NM_001009944.3(PKD1):c.529+1G>A
|
|
|
|
NM_001009944.3(PKD1):c.529+3G>C
|
|
|
|
NM_001009944.3(PKD1):c.5478G>A (p.Trp1826Ter)
|
|
|
|
NM_001009944.3(PKD1):c.5494G>A (p.Gly1832Ser)
|
rs2151792963
|
|
|
NM_001009944.3(PKD1):c.5495G>T (p.Gly1832Val)
|
|
|
|
NM_001009944.3(PKD1):c.5515T>A (p.Trp1839Arg)
|
|
|
|
NM_001009944.3(PKD1):c.5515T>C (p.Trp1839Arg)
|
|
|
|
NM_001009944.3(PKD1):c.5517G>A (p.Trp1839Ter)
|
|
|
|
NM_001009944.3(PKD1):c.5608A>C (p.Asn1870His)
|
|
|
|
NM_001009944.3(PKD1):c.5609A>G (p.Asn1870Ser)
|
|
|
|
NM_001009944.3(PKD1):c.5609A>T (p.Asn1870Ile)
|
|
|
|
NM_001009944.3(PKD1):c.5627C>G (p.Ser1876Ter)
|
rs1567196052
|
|
|
NM_001009944.3(PKD1):c.5693dup (p.Val1899fs)
|
rs1567195868
|
|
|
NM_001009944.3(PKD1):c.5707delinsGA (p.Gln1903fs)
|
|
|
|
NM_001009944.3(PKD1):c.5855dup (p.Lys1953fs)
|
rs1555454886
|
|
|
NM_001009944.3(PKD1):c.5936_5949del (p.Cys1979fs)
|
|
|
|
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu)
|
rs2092438025
|
|
|
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser)
|
rs2092437527
|
|
|
NM_001009944.3(PKD1):c.6000_6001del (p.Arg2001fs)
|
|
|
|
NM_001009944.3(PKD1):c.6005T>A (p.Val2002Asp)
|
|
|
|
NM_001009944.3(PKD1):c.6070C>T (p.Arg2024Cys)
|
|
|
|
NM_001009944.3(PKD1):c.6124G>C (p.Ala2042Pro)
|
rs556681288
|
|
|
NM_001009944.3(PKD1):c.6197T>C (p.Leu2066Pro)
|
rs1555454606
|
|
|
NM_001009944.3(PKD1):c.6280T>G (p.Trp2094Gly)
|
|
|
|
NM_001009944.3(PKD1):c.628T>C (p.Cys210Arg)
|
|
|
|
NM_001009944.3(PKD1):c.6292G>A (p.Asp2098Asn)
|
|
|
|
NM_001009944.3(PKD1):c.6293A>T (p.Asp2098Val)
|
|
|
|
NM_001009944.3(PKD1):c.629G>A (p.Cys210Tyr)
|
rs2092673697
|
|
|
NM_001009944.3(PKD1):c.6331G>T (p.Glu2111Ter)
|
|
|
|
NM_001009944.3(PKD1):c.6341A>G (p.Tyr2114Cys)
|
rs2092427197
|
|
|
NM_001009944.3(PKD1):c.6382A>G (p.Asn2128Asp)
|
rs2151788281
|
|
|
NM_001009944.3(PKD1):c.6384C>A (p.Asn2128Lys)
|
|
|
|
NM_001009944.3(PKD1):c.6384C>G (p.Asn2128Lys)
|
rs1247882278
|
|
|
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del)
|
rs1555454460
|
|
|
NM_001009944.3(PKD1):c.640T>A (p.Cys214Ser)
|
rs1567218351
|
|
|
NM_001009944.3(PKD1):c.641G>A (p.Cys214Tyr)
|
rs1596590574
|
|
|
NM_001009944.3(PKD1):c.6420del (p.Val2141fs)
|
|
|
|
NM_001009944.3(PKD1):c.6421G>T (p.Val2141Phe)
|
|
|
|
NM_001009944.3(PKD1):c.6545_6603delinsGCTCG (p.Gln2182_Pro2201delinsArgSer)
|
|
|
|
NM_001009944.3(PKD1):c.655C>T (p.Gln219Ter)
|
rs2092673393
|
|
|
NM_001009944.3(PKD1):c.6571C>T (p.Arg2191Cys)
|
|
|
|
NM_001009944.3(PKD1):c.6576_6582del (p.Cys2195fs)
|
|
|
|
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro)
|
rs1567218310
|
|
|
NM_001009944.3(PKD1):c.664G>C (p.Ala222Pro)
|
|
|
|
NM_001009944.3(PKD1):c.6656C>G (p.Pro2219Arg)
|
|
|
|
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu)
|
rs1567191874
|
|
|
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del)
|
rs2151786683
|
|
|
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys)
|
rs1596550613
|
|
|
NM_001009944.3(PKD1):c.6701T>A (p.Val2234Glu)
|
rs2092417183
|
|
|
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del)
|
rs1596550396
|
|
|
NM_001009944.3(PKD1):c.6760G>A (p.Glu2254Lys)
|
|
|
|
NM_001009944.3(PKD1):c.6778_6780del (p.Ile2260del)
|
|
|
|
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs)
|
|
|
|
NM_001009944.3(PKD1):c.6842C>T (p.Ser2281Phe)
|
|
|
|
NM_001009944.3(PKD1):c.6890A>C (p.His2297Pro)
|
|
|
|
NM_001009944.3(PKD1):c.6892T>G (p.Trp2298Gly)
|
|
|
|
NM_001009944.3(PKD1):c.689G>T (p.Cys230Phe)
|
|
|
|
NM_001009944.3(PKD1):c.6916-9G>A
|
rs1567190244
|
|
|
NM_001009944.3(PKD1):c.692T>C (p.Leu231Pro)
|
|
|
|
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg)
|
rs2151824152
|
|
|
NM_001009944.3(PKD1):c.696T>G (p.Cys232Trp)
|
rs1114167370
|
|
|
NM_001009944.3(PKD1):c.6987_6988insATGGCGG (p.Leu2330fs)
|
|
|
|
NM_001009944.3(PKD1):c.7065+1G>A
|
rs2151783532
|
|
|
NM_001009944.3(PKD1):c.7065+2T>C
|
|
|
|
NM_001009944.3(PKD1):c.7065+2del
|
|
|
|
NM_001009944.3(PKD1):c.7075del (p.Arg2359fs)
|
|
|
|
NM_001009944.3(PKD1):c.7088_7095dup (p.Val2366fs)
|
|
|
|
NM_001009944.3(PKD1):c.7108T>A (p.Cys2370Ser)
|
|
|
|
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)
|
rs1567187445
|
|
|
NM_001009944.3(PKD1):c.7109G>A (p.Cys2370Tyr)
|
|
|
|
NM_001009944.3(PKD1):c.7118G>A (p.Cys2373Tyr)
|
|
|
|
NM_001009944.3(PKD1):c.7209+1G>C
|
|
|
|
NM_001009944.3(PKD1):c.7209_7209+1delinsTT
|
|
|
|
NM_001009944.3(PKD1):c.7215G>T (p.Trp2405Cys)
|
rs2092347343
|
|
|
NM_001009944.3(PKD1):c.7250T>C (p.Leu2417Pro)
|
|
|
|
NM_001009944.3(PKD1):c.7268C>A (p.Ser2423Tyr)
|
rs1555453207
|
|
|
NM_001009944.3(PKD1):c.7268C>T (p.Ser2423Phe)
|
rs1555453207
|
|
|
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met)
|
rs1367567191
|
|
|
NM_001009944.3(PKD1):c.7292T>A (p.Leu2431Gln)
|
rs2092344562
|
|
|
NM_001009944.3(PKD1):c.7298T>G (p.Leu2433Arg)
|
|
|
|
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp)
|
rs151257298
|
|
|
NM_001009944.3(PKD1):c.7301_7312dup (p.Arg2434_Val2437dup)
|
rs2092343785
|
|
|
NM_001009944.3(PKD1):c.7303_7317del (p.Arg2435_Arg2439del)
|
rs2092343570
|
|
|
NM_001009944.3(PKD1):c.7313T>C (p.Leu2438Pro)
|
|
|
|
NM_001009944.3(PKD1):c.7356_7357insATACACCTTCACGCTCACGGTGCTGGG (p.Gly2452_Arg2453insIleHisLeuHisAlaHisGlyAlaGly)
|
|
|
|
NM_001009944.3(PKD1):c.7483T>C (p.Cys2495Arg)
|
rs2092338268
|
|
|
NM_001009944.3(PKD1):c.7484G>A (p.Cys2495Tyr)
|
|
|
|
NM_001009944.3(PKD1):c.7489+5G>A
|
rs2092337963
|
|
|
NM_001009944.3(PKD1):c.7490-11C>G
|
|
|
|
NM_001009944.3(PKD1):c.7534del (p.Leu2512fs)
|
|
|
|
NM_001009944.3(PKD1):c.7535T>G (p.Leu2512Arg)
|
rs2151772458
|
|
|
NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del)
|
rs1555452876
|
|
|
NM_001009944.3(PKD1):c.7605C>A (p.Tyr2535Ter)
|
|
|
|
NM_001009944.3(PKD1):c.7638dup (p.Phe2547fs)
|
|
|
|
NM_001009944.3(PKD1):c.7664T>G (p.Val2555Gly)
|
|
|
|
NM_001009944.3(PKD1):c.7703+2T>A
|
|
|
|
NM_001009944.3(PKD1):c.7703+5G>C
|
|
|
|
NM_001009944.3(PKD1):c.7703G>A (p.Arg2568Lys)
|
rs2092327300
|
|
|
NM_001009944.3(PKD1):c.7704-1G>A
|
|
|
|
NM_001009944.3(PKD1):c.7721_7724del (p.Leu2574fs)
|
|
|
|
NM_001009944.3(PKD1):c.7832_7835dup (p.Ala2614fs)
|
|
|
|
NM_001009944.3(PKD1):c.7837_7839del (p.Leu2613del)
|
|
|
|
NM_001009944.3(PKD1):c.7864-1G>A
|
|
|
|
NM_001009944.3(PKD1):c.7892_7911del (p.Glu2631fs)
|
|
|
|
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter)
|
rs778979740
|
|
|
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)
|
rs1452322332
|
|
|
NM_001009944.3(PKD1):c.7957_7958del (p.Leu2653fs)
|
rs2151766800
|
|
|
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter)
|
rs757768731
|
|
|
NM_001009944.3(PKD1):c.8005del (p.Ala2669fs)
|
rs1596536546
|
|
|
NM_001009944.3(PKD1):c.8016+1G>A
|
|
|
|
NM_001009944.3(PKD1):c.8016+2T>C
|
rs1596536505
|
|
|
NM_001009944.3(PKD1):c.8161+2_8161+3delinsGT
|
|
|
|
NM_001009944.3(PKD1):c.8203_8204del (p.Gln2735fs)
|
rs1596527744
|
|
|
NM_001009944.3(PKD1):c.8263del (p.Asn2754_Leu2755insTer)
|
rs2151756041
|
|
|
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del)
|
rs1596527370
|
|
|
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)
|
rs1596527370
|
|
|
NM_001009944.3(PKD1):c.8288T>C (p.Leu2763Pro)
|
|
|
|
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)
|
rs2092203712
|
|
|
NM_001009944.3(PKD1):c.8299_8310del (p.Arg2767_Asn2770del)
|
|
|
|
NM_001009944.3(PKD1):c.8299dup (p.Arg2767fs)
|
rs2151755878
|
|
|
NM_001009944.3(PKD1):c.8300G>C (p.Arg2767Pro)
|
|
|
|
NM_001009944.3(PKD1):c.8302G>T (p.Val2768Leu)
|
rs1456510041
|
|
|
NM_001009944.3(PKD1):c.8304_8326del (p.Leu2769fs)
|
|
|
|
NM_001009944.3(PKD1):c.8353G>C (p.Gly2785Arg)
|
rs2151755659
|
|
|
NM_001009944.3(PKD1):c.8354G>A (p.Gly2785Asp)
|
|
|
|
NM_001009944.3(PKD1):c.8363C>G (p.Ser2788Trp)
|
rs761060813
|
|
|
NM_001009944.3(PKD1):c.8426C>T (p.Pro2809Leu)
|
|
|
|
NM_001009944.3(PKD1):c.8447T>A (p.Leu2816Gln)
|
|
|
|
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro)
|
rs1567177684
|
|
|
NM_001009944.3(PKD1):c.844_850del (p.Gly282fs)
|
|
|
|
NM_001009944.3(PKD1):c.8483T>C (p.Leu2828Pro)
|
rs1555451143
|
|
|
NM_001009944.3(PKD1):c.8498C>T (p.Pro2833Leu)
|
|
|
|
NM_001009944.3(PKD1):c.8554G>C (p.Ala2852Pro)
|
|
|
|
NM_001009944.3(PKD1):c.8558T>C (p.Phe2853Ser)
|
|
|
|
NM_001009944.3(PKD1):c.8606_8607del (p.Glu2869fs)
|
|
|
|
NM_001009944.3(PKD1):c.8757del (p.Leu2920fs)
|
|
|
|
NM_001009944.3(PKD1):c.8762A>G (p.His2921Arg)
|
rs1555450920
|
|
|
NM_001009944.3(PKD1):c.8896G>T (p.Glu2966Ter)
|
rs773129632
|
|
|
NM_001009944.3(PKD1):c.8909del (p.Gly2970fs)
|
|
|
|
NM_001009944.3(PKD1):c.8930C>T (p.Thr2977Ile)
|
|
|
|
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del)
|
rs1358948221
|
|
|
NM_001009944.3(PKD1):c.8933T>C (p.Phe2978Ser)
|
rs1596523677
|
|
|
NM_001009944.3(PKD1):c.8948+1del
|
|
|
|
NM_001009944.3(PKD1):c.8949-2A>C
|
|
|
|
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs)
|
rs1555459084
|
|
|
NM_001009944.3(PKD1):c.8971T>G (p.Tyr2991Asp)
|
|
|
|
NM_001009944.3(PKD1):c.8978T>A (p.Leu2993Gln)
|
|
|
|
NM_001009944.3(PKD1):c.8998C>G (p.Arg3000Gly)
|
|
|
|
NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro)
|
rs746460070
|
|
|
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln)
|
rs750501225
|
|
|
NM_001009944.3(PKD1):c.9045C>G (p.Cys3015Trp)
|
|
|
|
NM_001009944.3(PKD1):c.9047A>G (p.Gln3016Arg)
|
rs2151750082
|
|
|
NM_001009944.3(PKD1):c.9097del (p.Leu3033fs)
|
|
|
|
NM_001009944.3(PKD1):c.9100GAG[1] (p.Glu3035del)
|
|
|
|
NM_001009944.3(PKD1):c.9111_9132del (p.Arg3039fs)
|
|
|
|
NM_001009944.3(PKD1):c.9154G>C (p.Gly3052Arg)
|
|
|
|
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr)
|
rs200360336
|
|
|
NM_001009944.3(PKD1):c.9201+4A>G
|
|
|
|
NM_001009944.3(PKD1):c.9201+5G>A
|
rs1596521826
|
|
|
NM_001009944.3(PKD1):c.9202-1G>A
|
rs2151748829
|
|
|
NM_001009944.3(PKD1):c.9335G>A (p.Cys3112Tyr)
|
|
|
|
NM_001009944.3(PKD1):c.9355A>T (p.Lys3119Ter)
|
|
|
|
NM_001009944.3(PKD1):c.9365T>G (p.Ile3122Ser)
|
rs2092119998
|
|
|
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile)
|
rs1567173560
|
|
|
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu)
|
rs2092119222
|
|
|
NM_001009944.3(PKD1):c.9398-2A>G
|
rs2151742515
|
|
|
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)
|
rs1555449635
|
|
|
NM_001009944.3(PKD1):c.9407C>T (p.Ala3136Val)
|
|
|
|
NM_001009944.3(PKD1):c.9411C>G (p.His3137Gln)
|
|
|
|
NM_001009944.3(PKD1):c.9413T>A (p.Val3138Glu)
|
|
|
|
NM_001009944.3(PKD1):c.9415G>A (p.Gly3139Ser)
|
rs1165123201
|
|
|
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro)
|
rs2092051851
|
|
|
NM_001009944.3(PKD1):c.9430G>C (p.Gly3144Arg)
|
|
|
|
NM_001009944.3(PKD1):c.9431G>A (p.Gly3144Glu)
|
|
|
|
NM_001009944.3(PKD1):c.9454C>G (p.Arg3152Gly)
|
rs776866974
|
|
|
NM_001009944.3(PKD1):c.9455_9516dup (p.Pro3173fs)
|
rs1596514864
|
|
|
NM_001009944.3(PKD1):c.9502_9504del (p.Phe3168del)
|
rs2092048798
|
|
|
NM_001009944.3(PKD1):c.9503T>C (p.Phe3168Ser)
|
|
|
|
NM_001009944.3(PKD1):c.9504C>G (p.Phe3168Leu)
|
|
|
|
NM_001009944.3(PKD1):c.9513del (p.Thr3172fs)
|
|
|
|
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro)
|
rs769045618
|
|
|
NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn)
|
rs2092047055
|
|
|
NM_001009944.3(PKD1):c.9556C>G (p.His3186Asp)
|
|
|
|
NM_001009944.3(PKD1):c.9559G>A (p.Asp3187Asn)
|
|
|
|
NM_001009944.3(PKD1):c.9559G>T (p.Asp3187Tyr)
|
|
|
|
NM_001009944.3(PKD1):c.9559_9561del (p.Asp3187del)
|
|
|
|
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del)
|
rs869312944
|
|
|
NM_001009944.3(PKD1):c.9562A>T (p.Asn3188Tyr)
|
|
|
|
NM_001009944.3(PKD1):c.9568G>T (p.Gly3190Trp)
|
rs1060499704
|
|
|
NM_001009944.3(PKD1):c.9569-1G>A
|
|
|
|
NM_001009944.3(PKD1):c.9569-1G>T
|
|
|
|
NM_001009944.3(PKD1):c.9595_9618del (p.His3199_Gln3206del)
|
|
|
|
NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe)
|
rs1422698524
|
|
|
NM_001009944.3(PKD1):c.9611A>G (p.Asp3204Gly)
|
rs1596513913
|
|
|
NM_001009944.3(PKD1):c.9674_9700del (p.Ala3225_Glu3233del)
|
rs1555449461
|
|
|
NM_001009944.3(PKD1):c.9697dup (p.Glu3233fs)
|
|
|
|
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)
|
rs1232180956
|
|
|
NM_001009944.3(PKD1):c.9755_9757del (p.Glu3252_Leu3253delinsVal)
|
rs1057516202
|
|
|
NM_001009944.3(PKD1):c.9773_9787del (p.Phe3258_Ile3262del)
|
|
|
|
NM_001009944.3(PKD1):c.9788G>C (p.Trp3263Ser)
|
rs1555449378
|
|
|
NM_001009944.3(PKD1):c.9789G>T (p.Trp3263Cys)
|
|
|
|
NM_001009944.3(PKD1):c.9794C>A (p.Ser3265Tyr)
|
|
|
|
NM_001009944.3(PKD1):c.9806G>A (p.Arg3269Gln)
|
|
|
|
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)
|
rs2092020811
|
|
|
NM_001009944.3(PKD1):c.9924-1G>C
|
rs2151738493
|
|
|
NM_001009944.3(PKD1):c.[8279T>C;8282G>C8291T>C]
|
|
|
|
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter)
|
rs1225701554
|
|
|
NM_001018057.2(DKK3):c.1006dup (p.Glu336fs)
|
rs2134978784
|
|
|
NM_001020658.2(PUM1):c.1773del (p.Ser592fs)
|
rs1640658015
|
|
|
NM_001020658.2(PUM1):c.2264_2291dup (p.Ser765fs)
|
|
|
|
NM_001020658.2(PUM1):c.3415C>T (p.Arg1139Trp)
|
rs1557541619
|
|
|
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp)
|
rs1557539450
|
|
|
NM_001020658.2(PUM1):c.46G>T (p.Asp16Tyr)
|
rs1644321851
|
|
|
NM_001031726.4(C19orf12):c.164_166delGGG
|
rs398122409
|
|
|
NM_001035.3(RYR2):c.10835C>T (p.Pro3612Leu)
|
|
|
|
NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu)
|
rs1060500137
|
|
|
NM_001035.3(RYR2):c.11794C>G (p.Gln3932Glu)
|
|
|
|
NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe)
|
|
|
|
NM_001035.3(RYR2):c.6957_6959del (p.Val2321del)
|
rs794728834
|
|
|
NM_001035.3(RYR2):c.9931_9934del (p.Lys3311fs)
|
|
|
|
NM_001037343.2(CDKL5):c.2810G>A (p.Cys937Tyr)
|
rs1569231336
|
|
|
NM_001038603.3(MARVELD2):c.1138C>T (p.Gln380Ter)
|
rs1766596437
|
|
|
NM_001038603.3(MARVELD2):c.1224dup (p.Val409fs)
|
rs1561299289
|
|
|
NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs)
|
rs771696726
|
|
|
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs)
|
rs1569042782
|
|
|
NM_001039213.4(CEACAM16):c.703dup (p.Arg235fs)
|
|
|
|
NM_001040108.2(MLH3):c.124del (p.Ala42fs)
|
|
|
|
NM_001040108.2(MLH3):c.1270_1271del (p.Ser424fs)
|
|
|
|
NM_001040108.2(MLH3):c.2116del (p.Thr706fs)
|
rs797045117
|
|
|
NM_001040108.2(MLH3):c.3956del (p.Gly1319fs)
|
|
|
|
NM_001040108.2(MLH3):c.983_986del (p.Ile328fs)
|
|
|
|
NM_001042492.3(NF1):c.-272G>A
|
rs1911510393
|
|
|
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly)
|
rs199474773
|
|
|
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)
|
rs1555610903
|
|
|
NM_001042492.3(NF1):c.1038del (p.Gln347fs)
|
rs2143874352
|
|
|
NM_001042492.3(NF1):c.1061_1062+12del
|
|
|
|
NM_001042492.3(NF1):c.1062+2T>A
|
|
|
|
NM_001042492.3(NF1):c.1062+2T>C
|
rs2066510391
|
|
|
NM_001042492.3(NF1):c.1062+2dup
|
rs2066510417
|
|
|
NM_001042492.3(NF1):c.1062+3A>G
|
rs1057521098
|
|
|
NM_001042492.3(NF1):c.1062+3A>T
|
|
|
|
NM_001042492.3(NF1):c.1062G>A (p.Lys354=)
|
rs1131691118
|
|
|
NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn)
|
rs1131691118
|
|
|
NM_001042492.3(NF1):c.1062G>T (p.Lys354Asn)
|
rs1131691118
|
|
|
NM_001042492.3(NF1):c.1062_1062+6del
|
rs2066510244
|
|
|
NM_001042492.3(NF1):c.1063-1G>C
|
rs1555610955
|
|
|
NM_001042492.3(NF1):c.1063-3_1063del
|
|
|
|
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)
|
rs137854563
|
|
|
NM_001042492.3(NF1):c.1073_1074insA (p.Phe358fs)
|
rs1555610971
|
|
|
NM_001042492.3(NF1):c.1077del (p.Pro360fs)
|
rs1555610972
|
|
|
NM_001042492.3(NF1):c.108_111dup (p.His38Ter)
|
rs2065655815
|
|
|
NM_001042492.3(NF1):c.1104_1107del (p.Gln369fs)
|
rs1555610984
|
|
|
NM_001042492.3(NF1):c.1129_1136del (p.Ile377fs)
|
rs2066520145
|
|
|
NM_001042492.3(NF1):c.1139T>A (p.Leu380His)
|
rs1555611004
|
|
|
NM_001042492.3(NF1):c.1144del (p.Ser382fs)
|
rs1135402802
|
|
|
NM_001042492.3(NF1):c.1181_1182dup (p.Lys395fs)
|
rs1597682159
|
|
|
NM_001042492.3(NF1):c.1183_1185+2del
|
rs1555611039
|
|
|
NM_001042492.3(NF1):c.1185+1G>T
|
rs864622161
|
|
|
NM_001042492.3(NF1):c.1185+2T>C
|
rs1555611043
|
|
|
NM_001042492.3(NF1):c.1185+5G>C
|
rs1597682182
|
|
|
NM_001042492.3(NF1):c.1185G>A (p.Lys395=)
|
rs1567835847
|
|
|
NM_001042492.3(NF1):c.1186-1G>C
|
rs876660782
|
|
|
NM_001042492.3(NF1):c.1186-1G>T
|
rs876660782
|
|
|
NM_001042492.3(NF1):c.1186-2A>G
|
rs1373365576
|
|
|
NM_001042492.3(NF1):c.1188_1189del (p.Ile396fs)
|
rs1597682729
|
|
|
NM_001042492.3(NF1):c.122A>T (p.Glu41Val)
|
rs786203038
|
|
|
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser)
|
rs1567836090
|
|
|
NM_001042492.3(NF1):c.1241T>C (p.Leu414Pro)
|
|
|
|
NM_001042492.3(NF1):c.1245del (p.Arg416fs)
|
rs1555611098
|
|
|
NM_001042492.3(NF1):c.1251_1260+25del
|
rs2066528976
|
|
|
NM_001042492.3(NF1):c.1254del (p.Thr419fs)
|
rs761430357
|
|
|
NM_001042492.3(NF1):c.1260+1_1260+2del
|
|
|
|
NM_001042492.3(NF1):c.1260+1del
|
rs2143887087
|
|
|
NM_001042492.3(NF1):c.1260+2T>C
|
rs1555611110
|
|
|
NM_001042492.3(NF1):c.1260+2T>G
|
rs1555611110
|
|
|
NM_001042492.3(NF1):c.1260+2_1260+3insTT
|
rs1597682922
|
|
|
NM_001042492.3(NF1):c.1260+4_1260+18del
|
|
|
|
NM_001042492.3(NF1):c.1260+5G>C
|
rs1060500253
|
|
|
NM_001042492.3(NF1):c.1261-19G>A
|
rs1597688663
|
|
|
NM_001042492.3(NF1):c.128T>A (p.Leu43Gln)
|
rs1555604899
|
|
|
NM_001042492.3(NF1):c.128T>C (p.Leu43Pro)
|
rs1555604899
|
|
|
NM_001042492.3(NF1):c.1317del (p.Arg440fs)
|
|
|
|
NM_001042492.3(NF1):c.1392+1G>A
|
rs267604791
|
|
|
NM_001042492.3(NF1):c.1392+2_1392+8del
|
|
|
|
NM_001042492.3(NF1):c.1392+2del
|
rs1597689068
|
|
|
NM_001042492.3(NF1):c.1393-1555C>G
|
|
|
|
NM_001042492.3(NF1):c.1393-1G>C
|
rs1131691131
|
|
|
NM_001042492.3(NF1):c.1393-2A>G
|
rs1555612266
|
|
|
NM_001042492.3(NF1):c.1393-2A>T
|
rs1555612266
|
|
|
NM_001042492.3(NF1):c.1393-3_1393-2del
|
rs2066785062
|
|
|
NM_001042492.3(NF1):c.1393-592A>G
|
rs2066773116
|
|
|
NM_001042492.3(NF1):c.1393-5_1398del
|
rs2143958483
|
|
|
NM_001042492.3(NF1):c.1393-7_1393-2del
|
|
|
|
NM_001042492.3(NF1):c.1397_1398dup (p.Thr467fs)
|
|
|
|
NM_001042492.3(NF1):c.1405A>G (p.Lys469Glu)
|
rs1555612271
|
|
|
NM_001042492.3(NF1):c.140C>T (p.Ser47Phe)
|
|
|
|
NM_001042492.3(NF1):c.1413_1414delinsT (p.Lys471fs)
|
rs1555612273
|
|
|
NM_001042492.3(NF1):c.1426A>G (p.Lys476Glu)
|
rs2066785949
|
|
|
NM_001042492.3(NF1):c.1490del (p.Val497fs)
|
rs1555612286
|
|
|
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg)
|
rs1555612288
|
|
|
NM_001042492.3(NF1):c.1502_1503insGGAAATTCA (p.Ile500_His501insGlnGluIle)
|
|
|
|
NM_001042492.3(NF1):c.1513A>G (p.Lys505Glu)
|
rs2066787606
|
|
|
NM_001042492.3(NF1):c.1527+1159C>T
|
rs878853868
|
|
|
NM_001042492.3(NF1):c.1527+1G>C
|
rs1060500331
|
|
|
NM_001042492.3(NF1):c.1527+2T>C
|
rs1064796700
|
|
|
NM_001042492.3(NF1):c.1527+2dup
|
rs1597698533
|
|
|
NM_001042492.3(NF1):c.1527+4_1527+7del
|
rs1555612294
|
|
|
NM_001042492.3(NF1):c.1527+5G>A
|
rs1060500352
|
|
|
NM_001042492.3(NF1):c.1527+5G>C
|
rs1060500352
|
|
|
NM_001042492.3(NF1):c.1527+5G>T
|
rs1060500352
|
|
|
NM_001042492.3(NF1):c.1528-1_1529del
|
|
|
|
NM_001042492.3(NF1):c.1528-2A>C
|
rs1368005133
|
|
|
NM_001042492.3(NF1):c.1528-2A>G
|
rs1368005133
|
|
|
NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe)
|
rs1135402816
|
|
|
NM_001042492.3(NF1):c.1598T>A (p.Val533Asp)
|
|
|
|
NM_001042492.3(NF1):c.1598T>G (p.Val533Gly)
|
rs1555612857
|
|
|
NM_001042492.3(NF1):c.15del (p.Arg5fs)
|
rs1057516197
|
|
|
NM_001042492.3(NF1):c.1607C>G (p.Ser536Ter)
|
rs1555612859
|
|
|
NM_001042492.3(NF1):c.1634C>A (p.Ala545Glu)
|
|
|
|
NM_001042492.3(NF1):c.1641+1G>A
|
rs1555612866
|
|
|
NM_001042492.3(NF1):c.1641+2T>C
|
rs1555612867
|
|
|
NM_001042492.3(NF1):c.1641+2_1641+3del
|
|
|
|
NM_001042492.3(NF1):c.1641+2del
|
rs1135402818
|
|
|
NM_001042492.3(NF1):c.1642-10A>G
|
rs1597706578
|
|
|
NM_001042492.3(NF1):c.1642-449A>G
|
rs863224655
|
|
|
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro)
|
rs199474758
|
|
|
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro)
|
rs886052798
|
|
|
NM_001042492.3(NF1):c.1652TTC[1] (p.Leu552del)
|
rs2144003808
|
|
|
NM_001042492.3(NF1):c.1655T>A (p.Leu552His)
|
|
|
|
NM_001042492.3(NF1):c.1657C>G (p.His553Asp)
|
|
|
|
NM_001042492.3(NF1):c.1658A>C (p.His553Pro)
|
rs1064794274
|
|
|
NM_001042492.3(NF1):c.1658A>G (p.His553Arg)
|
rs1064794274
|
|
|
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter)
|
rs953440640
|
|
|
NM_001042492.3(NF1):c.1720A>G (p.Ser574Gly)
|
|
|
|
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn)
|
rs1555613206
|
|
|
NM_001042492.3(NF1):c.1722-26T>C
|
rs1597708542
|
|
|
NM_001042492.3(NF1):c.1722-2A>C
|
rs763983337
|
|
|
NM_001042492.3(NF1):c.1722-3C>A
|
rs770211384
|
|
|
NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro)
|
rs199474774
|
|
|
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg)
|
rs199474774
|
|
|
NM_001042492.3(NF1):c.1738del (p.Tyr580fs)
|
rs786204255
|
|
|
NM_001042492.3(NF1):c.173T>C (p.Leu58Pro)
|
rs1597626094
|
|
|
NM_001042492.3(NF1):c.173T>G (p.Leu58Arg)
|
rs1597626094
|
|
|
NM_001042492.3(NF1):c.1742T>G (p.Ile581Ser)
|
|
|
|
NM_001042492.3(NF1):c.1745G>T (p.Cys582Phe)
|
rs2066962321
|
|
|
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)
|
rs199474760
|
|
|
NM_001042492.3(NF1):c.175A>C (p.Thr59Pro)
|
|
|
|
NM_001042492.3(NF1):c.1808T>A (p.Ile603Lys)
|
rs2144016800
|
|
|
NM_001042492.3(NF1):c.1833del (p.Asn614fs)
|
|
|
|
NM_001042492.3(NF1):c.1845+1_1845+5del
|
rs1135402822
|
|
|
NM_001042492.3(NF1):c.1845+2T>C
|
rs1555613430
|
|
|
NM_001042492.3(NF1):c.1845+2_1845+3insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATAAGGT
|
|
|
|
NM_001042492.3(NF1):c.1845+2del
|
|
|
|
NM_001042492.3(NF1):c.1845+3_1845+4insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAGGTA
|
|
|
|
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter)
|
rs1555613543
|
|
|
NM_001042492.3(NF1):c.1846del (p.Gln616fs)
|
|
|
|
NM_001042492.3(NF1):c.1873del (p.Leu625fs)
|
|
|
|
NM_001042492.3(NF1):c.1884del (p.Phe627_Tyr628insTer)
|
rs2066990429
|
|
|
NM_001042492.3(NF1):c.188del (p.Lys63fs)
|
rs1555604939
|
|
|
NM_001042492.3(NF1):c.1890del (p.Gly631fs)
|
|
|
|
NM_001042492.3(NF1):c.1931_1934del (p.Ser644fs)
|
rs2066991740
|
|
|
NM_001042492.3(NF1):c.1950dup (p.Leu651fs)
|
|
|
|
NM_001042492.3(NF1):c.196_204+1del
|
|
|
|
NM_001042492.3(NF1):c.1986del (p.Asn664fs)
|
rs2066993468
|
|
|
NM_001042492.3(NF1):c.1A>C (p.Met1Leu)
|
rs1060500252
|
|
|
NM_001042492.3(NF1):c.2001+1G>A
|
rs2066994053
|
|
|
NM_001042492.3(NF1):c.2002-14C>G
|
|
|
|
NM_001042492.3(NF1):c.2002-2_2002-1del
|
rs2151425505
|
|
|
NM_001042492.3(NF1):c.2002-4_2010del
|
rs878853871
|
|
|
NM_001042492.3(NF1):c.2010del (p.Ala671fs)
|
rs1597712251
|
|
|
NM_001042492.3(NF1):c.2035dup (p.Ile679fs)
|
rs1555613773
|
|
|
NM_001042492.3(NF1):c.204+3_204+6del
|
rs1567814632
|
|
|
NM_001042492.3(NF1):c.2066del (p.Val689fs)
|
|
|
|
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro)
|
rs1131691132
|
|
|
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro)
|
rs199474761
|
|
|
NM_001042492.3(NF1):c.2099del (p.Thr700fs)
|
|
|
|
NM_001042492.3(NF1):c.2117C>T (p.Ala706Val)
|
rs2151425819
|
|
|
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)
|
rs1131691095
|
|
|
NM_001042492.3(NF1):c.2126_2135delinsCC (p.Cys709fs)
|
|
|
|
NM_001042492.3(NF1):c.2137_2145del (p.Leu713_Glu715del)
|
|
|
|
NM_001042492.3(NF1):c.2163T>A (p.Cys721Ter)
|
rs1555613816
|
|
|
NM_001042492.3(NF1):c.2172dup (p.Glu725Ter)
|
|
|
|
NM_001042492.3(NF1):c.2187dup (p.Asn730Ter)
|
rs1555613821
|
|
|
NM_001042492.3(NF1):c.2251+1G>C
|
rs1555613843
|
|
|
NM_001042492.3(NF1):c.2251+1G>T
|
rs1555613843
|
|
|
NM_001042492.3(NF1):c.2251G>A (p.Gly751Arg)
|
rs1567847681
|
|
|
NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg)
|
rs1567847681
|
|
|
NM_001042492.3(NF1):c.2252-1G>C
|
rs587781577
|
|
|
NM_001042492.3(NF1):c.2252-1G>T
|
rs587781577
|
|
|
NM_001042492.3(NF1):c.2252-2A>G
|
rs1131691105
|
|
|
NM_001042492.3(NF1):c.2252-3T>G
|
rs1057518842
|
|
|
NM_001042492.3(NF1):c.2269A>T (p.Lys757Ter)
|
rs1270674587
|
|
|
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)
|
rs199474762
|
|
|
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg)
|
rs199474762
|
|
|
NM_001042492.3(NF1):c.2309_2315dup (p.Asn773fs)
|
rs1555613926
|
|
|
NM_001042492.3(NF1):c.2325+3A>T
|
|
|
|
NM_001042492.3(NF1):c.2325G>A (p.Glu775=)
|
rs1555613932
|
|
|
NM_001042492.3(NF1):c.2326-1G>C
|
rs1567848100
|
|
|
NM_001042492.3(NF1):c.2326-1G>T
|
rs1567848100
|
|
|
NM_001042492.3(NF1):c.2326-2A>G
|
rs1555613975
|
|
|
NM_001042492.3(NF1):c.2326-4_2326-1del
|
rs2067037065
|
|
|
NM_001042492.3(NF1):c.2326-6_2338del
|
|
|
|
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg)
|
rs876658853
|
|
|
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg)
|
rs876658853
|
|
|
NM_001042492.3(NF1):c.2329T>G (p.Trp777Gly)
|
rs876658853
|
|
|
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser)
|
rs199474745
|
|
|
NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter)
|
rs1555613983
|
|
|
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys)
|
rs199474746
|
|
|
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)
|
rs199474746
|
|
|
NM_001042492.3(NF1):c.2342A>C (p.His781Pro)
|
rs199474763
|
|
|
NM_001042492.3(NF1):c.2344dup (p.Ala782fs)
|
rs2151427470
|
|
|
NM_001042492.3(NF1):c.2350T>A (p.Trp784Arg)
|
rs199474730
|
|
|
NM_001042492.3(NF1):c.2350T>G (p.Trp784Gly)
|
|
|
|
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys)
|
rs199474778
|
|
|
NM_001042492.3(NF1):c.2375T>A (p.Leu792His)
|
rs1597713777
|
|
|
NM_001042492.3(NF1):c.238del (p.Tyr80fs)
|
rs2065717116
|
|
|
NM_001042492.3(NF1):c.2392A>C (p.Lys798Gln)
|
rs1135402830
|
|
|
NM_001042492.3(NF1):c.2396_2409+4del
|
rs2067039276
|
|
|
NM_001042492.3(NF1):c.2410-13A>G
|
rs1567848711
|
|
|
NM_001042492.3(NF1):c.2410-16A>G
|
rs1567848704
|
|
|
NM_001042492.3(NF1):c.243_254delinsTGAGAGAGA (p.Ser82_Ile85delinsGluArgAsp)
|
rs1597629809
|
|
|
NM_001042492.3(NF1):c.2441del (p.Lys814fs)
|
|
|
|
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe)
|
rs199474729
|
|
|
NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro)
|
rs2067066952
|
|
|
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe)
|
rs199474785
|
|
|
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro)
|
rs137854566
|
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
|
NM_001042492.3(NF1):c.2542G>C (p.Gly848Arg)
|
rs1060500368
|
|
|
NM_001042492.3(NF1):c.2552del (p.Cys851fs)
|
rs1555614260
|
|
|
NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter)
|
rs1555614261
|
|
|
NM_001042492.3(NF1):c.2572dup (p.Ser858fs)
|
|
|
|
NM_001042492.3(NF1):c.2589_2590dup (p.Ser864fs)
|
|
|
|
NM_001042492.3(NF1):c.2665dup (p.Thr889fs)
|
rs886041348
|
|
|
NM_001042492.3(NF1):c.2681T>C (p.Phe894Ser)
|
rs1282493551
|
|
|
NM_001042492.3(NF1):c.2693T>A (p.Leu898Gln)
|
rs199474786
|
|
|
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
|
NM_001042492.3(NF1):c.269T>A (p.Leu90Gln)
|
rs1555605393
|
|
|
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg)
|
rs1555605393
|
|
|
NM_001042492.3(NF1):c.270_272dup (p.Glu91dup)
|
rs2065717991
|
|
|
NM_001042492.3(NF1):c.2710T>A (p.Cys904Ser)
|
rs2151429494
|
|
|
NM_001042492.3(NF1):c.2739dup (p.Arg914fs)
|
rs1555614319
|
|
|
NM_001042492.3(NF1):c.2750T>A (p.Val917Asp)
|
|
|
|
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser)
|
rs1135402831
|
|
|
NM_001042492.3(NF1):c.2774del (p.Glu924_Leu925insTer)
|
|
|
|
NM_001042492.3(NF1):c.277T>C (p.Cys93Arg)
|
rs1555605398
|
|
|
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro)
|
rs1555614342
|
|
|
NM_001042492.3(NF1):c.279T>G (p.Cys93Trp)
|
rs1597629882
|
|
|
NM_001042492.3(NF1):c.2823del (p.Ser942fs)
|
rs2067074423
|
|
|
NM_001042492.3(NF1):c.2835del (p.Phe945fs)
|
rs1567849208
|
|
|
NM_001042492.3(NF1):c.2842dup (p.Gln948fs)
|
rs1555614354
|
|
|
NM_001042492.3(NF1):c.2846dup (p.Gln950fs)
|
rs1555614358
|
|
|
NM_001042492.3(NF1):c.2851-1_2857del
|
|
|
|
NM_001042492.3(NF1):c.2851-6_2851-3del
|
rs1597716256
|
|
|
NM_001042492.3(NF1):c.2851G>T (p.Val951Phe)
|
rs1597716277
|
|
|
NM_001042492.3(NF1):c.2855_2856insG (p.Leu953fs)
|
rs2067082667
|
|
|
NM_001042492.3(NF1):c.2870A>T (p.Asn957Ile)
|
rs1135402834
|
|
|
NM_001042492.3(NF1):c.2870_2871delinsTC (p.Asn957Ile)
|
rs2151430516
|
|
|
NM_001042492.3(NF1):c.2873_2877delinsTGG (p.Thr958fs)
|
rs1555614426
|
|
|
NM_001042492.3(NF1):c.2876_2877insG (p.Phe960fs)
|
rs1555614429
|
|
|
NM_001042492.3(NF1):c.288+4A>G
|
rs781459468
|
|
|
NM_001042492.3(NF1):c.288+5G>A
|
rs1555605409
|
|
|
NM_001042492.3(NF1):c.288G>A (p.Gly96=)
|
rs1430988476
|
|
|
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys)
|
rs1555614438
|
|
|
NM_001042492.3(NF1):c.2894T>G (p.Ile965Arg)
|
rs1555614438
|
|
|
NM_001042492.3(NF1):c.2894_2900del (p.Ile965fs)
|
rs2067083472
|
|
|
NM_001042492.3(NF1):c.2903T>G (p.Met968Arg)
|
rs199474749
|
|
|
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro)
|
rs1597716348
|
|
|
NM_001042492.3(NF1):c.2940del (p.Glu981fs)
|
rs2067084312
|
|
|
NM_001042492.3(NF1):c.2948del (p.Leu983fs)
|
rs2067084444
|
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
|
NM_001042492.3(NF1):c.2972T>G (p.Met991Arg)
|
rs1060500298
|
|
|
NM_001042492.3(NF1):c.2990+1G>A
|
rs1135402836
|
|
|
NM_001042492.3(NF1):c.2990+1del
|
|
|
|
NM_001042492.3(NF1):c.2990+5G>A
|
rs1555614464
|
|
|
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys)
|
rs1555614462
|
|
|
NM_001042492.3(NF1):c.2990G>T (p.Arg997Met)
|
rs1555614462
|
|
|
NM_001042492.3(NF1):c.2991-11T>G
|
|
|
|
NM_001042492.3(NF1):c.2991-1G>C
|
rs1060500273
|
|
|
NM_001042492.3(NF1):c.2991-2A>C
|
rs1555614495
|
|
|
NM_001042492.3(NF1):c.2991-2A>G
|
rs1555614495
|
|
|
NM_001042492.3(NF1):c.2991-3T>G
|
rs1597716778
|
|
|
NM_001042492.3(NF1):c.2991-8_3000del
|
rs2067089729
|
|
|
NM_001042492.3(NF1):c.2991G>C (p.Arg997Ser)
|
rs755501749
|
|
|
NM_001042492.3(NF1):c.2991G>T (p.Arg997Ser)
|
rs755501749
|
|
|
NM_001042492.3(NF1):c.2998C>A (p.Arg1000Ser)
|
|
|
|
NM_001042492.3(NF1):c.2998_2999del (p.Arg1000fs)
|
rs1597716817
|
|
|
NM_001042492.3(NF1):c.2T>A (p.Met1Lys)
|
rs886041346
|
|
|
NM_001042492.3(NF1):c.3007_3020del (p.Gly1003fs)
|
rs2067090473
|
|
|
NM_001042492.3(NF1):c.3009_3018del (p.Asn1004fs)
|
rs2067090561
|
|
|
NM_001042492.3(NF1):c.3044T>C (p.Leu1015Pro)
|
rs1131691112
|
|
|
NM_001042492.3(NF1):c.3047G>A (p.Cys1016Tyr)
|
rs2067091492
|
|
|
NM_001042492.3(NF1):c.3047G>T (p.Cys1016Phe)
|
rs2067091492
|
|
|
NM_001042492.3(NF1):c.3048T>G (p.Cys1016Trp)
|
rs1135402840
|
|
|
NM_001042492.3(NF1):c.3063_3065del (p.Met1023del)
|
rs2151431646
|
|
|
NM_001042492.3(NF1):c.3063_3067dup (p.Met1023delinsLysTer)
|
rs2067092112
|
|
|
NM_001042492.3(NF1):c.3082_3086del (p.Asp1028fs)
|
rs2151431696
|
|
|
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys)
|
rs137854553
|
|
|
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr)
|
rs137854553
|
|
|
NM_001042492.3(NF1):c.3104T>G (p.Met1035Arg)
|
rs137854553
|
|
|
NM_001042492.3(NF1):c.3112A>G (p.Arg1038Gly)
|
rs1597717017
|
|
|
NM_001042492.3(NF1):c.3113+2T>G
|
rs876658997
|
|
|
NM_001042492.3(NF1):c.3113+2del
|
|
|
|
NM_001042492.3(NF1):c.3113+5G>A
|
rs1555614549
|
|
|
NM_001042492.3(NF1):c.3113+5G>C
|
rs1555614549
|
|
|
NM_001042492.3(NF1):c.3113+5G>T
|
|
|
|
NM_001042492.3(NF1):c.3114-1G>A
|
rs1555614611
|
|
|
NM_001042492.3(NF1):c.3114-2A>G
|
rs1428885377
|
|
|
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu)
|
rs1555614619
|
|
|
NM_001042492.3(NF1):c.3119A>C (p.Lys1040Thr)
|
|
|
|
NM_001042492.3(NF1):c.3124del (p.Met1041_Val1042insTer)
|
rs1555614624
|
|
|
NM_001042492.3(NF1):c.3142T>C (p.Trp1048Arg)
|
rs1555614634
|
|
|
NM_001042492.3(NF1):c.3196del (p.Arg1066fs)
|
rs2067102964
|
|
|
NM_001042492.3(NF1):c.3197+1G>A
|
rs1555614653
|
|
|
NM_001042492.3(NF1):c.3197+2del
|
rs1597717694
|
|
|
NM_001042492.3(NF1):c.3197+491_3384del
|
|
|
|
NM_001042492.3(NF1):c.3197G>A (p.Arg1066Lys)
|
rs1555614652
|
|
|
NM_001042492.3(NF1):c.3198-1G>C
|
|
|
|
NM_001042492.3(NF1):c.3198-2A>G
|
rs1131691089
|
|
|
NM_001042492.3(NF1):c.3198-314G>A
|
rs2067116490
|
|
|
NM_001042492.3(NF1):c.3200_3201insATTTT (p.Asp1067fs)
|
|
|
|
NM_001042492.3(NF1):c.3202_3203dup (p.Leu1068fs)
|
|
|
|
NM_001042492.3(NF1):c.3206_3207dup (p.Gln1070fs)
|
|
|
|
NM_001042492.3(NF1):c.3211G>C (p.Ala1071Pro)
|
rs2067122183
|
|
|
NM_001042492.3(NF1):c.3236T>C (p.Leu1079Pro)
|
rs2151433731
|
|
|
NM_001042492.3(NF1):c.3239T>C (p.Leu1080Pro)
|
rs1555614833
|
|
|
NM_001042492.3(NF1):c.3250C>A (p.Pro1084Thr)
|
rs1555614848
|
|
|
NM_001042492.3(NF1):c.3250C>G (p.Pro1084Ala)
|
rs1555614848
|
|
|
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser)
|
rs1555614848
|
|
|
NM_001042492.3(NF1):c.3250_3254del (p.Pro1084fs)
|
|
|
|
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg)
|
rs1164081667
|
|
|
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu)
|
rs1164081667
|
|
|
NM_001042492.3(NF1):c.3260dup (p.Pro1087_Glu1088insTer)
|
|
|
|
NM_001042492.3(NF1):c.3277G>A (p.Val1093Met)
|
rs1555614858
|
|
|
NM_001042492.3(NF1):c.3288_3294dup (p.Lys1099fs)
|
rs1555614862
|
|
|
NM_001042492.3(NF1):c.3291del (p.Ala1098fs)
|
|
|
|
NM_001042492.3(NF1):c.3295A>G (p.Lys1099Glu)
|
|
|
|
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs)
|
rs1555614866
|
|
|
NM_001042492.3(NF1):c.3302A>T (p.Gln1101Leu)
|
rs2151433891
|
|
|
NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter)
|
rs1555614867
|
|
|
NM_001042492.3(NF1):c.3315-8T>G
|
rs764783865
|
|
|
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys)
|
rs1567850987
|
|
|
NM_001042492.3(NF1):c.3318C>A (p.Tyr1106Ter)
|
rs876659289
|
|
|
NM_001042492.3(NF1):c.3324_3325del (p.Leu1109fs)
|
rs1555614918
|
|
|
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer)
|
rs2067134264
|
|
|
NM_001042492.3(NF1):c.332_335del (p.Lys111fs)
|
rs1135402787
|
|
|
NM_001042492.3(NF1):c.3357del (p.Val1120fs)
|
rs1555614934
|
|
|
NM_001042492.3(NF1):c.3362_3365del (p.Glu1121fs)
|
rs2067135200
|
|
|
NM_001042492.3(NF1):c.3378_3381dup (p.Gly1128fs)
|
rs1597719490
|
|
|
NM_001042492.3(NF1):c.3394del (p.Arg1132fs)
|
|
|
|
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr)
|
rs1555614963
|
|
|
NM_001042492.3(NF1):c.3436G>C (p.Val1146Leu)
|
rs201047812
|
|
|
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp)
|
rs2067137147
|
|
|
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)
|
rs1187097568
|
|
|
NM_001042492.3(NF1):c.3446T>G (p.Met1149Arg)
|
rs1131691121
|
|
|
NM_001042492.3(NF1):c.3447G>A (p.Met1149Ile)
|
rs1064794277
|
|
|
NM_001042492.3(NF1):c.3447G>C (p.Met1149Ile)
|
rs1064794277
|
|
|
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)
|
rs1064794277
|
|
|
NM_001042492.3(NF1):c.3448T>C (p.Ser1150Pro)
|
rs2067137547
|
|
|
NM_001042492.3(NF1):c.3460A>G (p.Asn1154Asp)
|
rs2067137878
|
|
|
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile)
|
rs371544233
|
|
|
NM_001042492.3(NF1):c.3464C>A (p.Ala1155Asp)
|
|
|
|
NM_001042492.3(NF1):c.3467A>C (p.Asn1156Thr)
|
rs199474764
|
|
|
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)
|
rs199474764
|
|
|
NM_001042492.3(NF1):c.3468C>A (p.Asn1156Lys)
|
rs147955381
|
|
|
NM_001042492.3(NF1):c.3479G>A (p.Gly1160Asp)
|
rs2067138342
|
|
|
NM_001042492.3(NF1):c.3494T>C (p.Ile1165Thr)
|
rs786204211
|
|
|
NM_001042492.3(NF1):c.3496+3G>T
|
rs1060500287
|
|
|
NM_001042492.3(NF1):c.3497-1G>A
|
rs1555615004
|
|
|
NM_001042492.3(NF1):c.3497-1G>C
|
|
|
|
NM_001042492.3(NF1):c.3497-2A>T
|
|
|
|
NM_001042492.3(NF1):c.3497-4T>G
|
|
|
|
NM_001042492.3(NF1):c.3502G>C (p.Gly1168Arg)
|
rs878853883
|
|
|
NM_001042492.3(NF1):c.3503G>A (p.Gly1168Asp)
|
rs2151435263
|
|
|
NM_001042492.3(NF1):c.3509A>T (p.His1170Leu)
|
rs1597719889
|
|
|
NM_001042492.3(NF1):c.350T>G (p.Ile117Ser)
|
rs199474731
|
|
|
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala)
|
rs2067142076
|
|
|
NM_001042492.3(NF1):c.3545T>G (p.Val1182Gly)
|
|
|
|
NM_001042492.3(NF1):c.3548T>A (p.Leu1183Gln)
|
|
|
|
NM_001042492.3(NF1):c.3560T>G (p.Leu1187Arg)
|
rs2151435424
|
|
|
NM_001042492.3(NF1):c.3572C>G (p.Thr1191Arg)
|
rs2151435462
|
|
|
NM_001042492.3(NF1):c.3572C>T (p.Thr1191Ile)
|
|
|
|
NM_001042492.3(NF1):c.3577T>A (p.Phe1193Ile)
|
rs2151435475
|
|
|
NM_001042492.3(NF1):c.3577T>G (p.Phe1193Val)
|
|
|
|
NM_001042492.3(NF1):c.3578T>A (p.Phe1193Tyr)
|
rs199474780
|
|
|
NM_001042492.3(NF1):c.3586C>G (p.Leu1196Val)
|
rs1555615039
|
|
|
NM_001042492.3(NF1):c.3589G>A (p.Ala1197Thr)
|
rs2151435523
|
|
|
NM_001042492.3(NF1):c.3590C>T (p.Ala1197Val)
|
rs370820478
|
|
|
NM_001042492.3(NF1):c.3592G>T (p.Glu1198Ter)
|
|
|
|
NM_001042492.3(NF1):c.3595A>C (p.Thr1199Pro)
|
|
|
|
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg)
|
rs1555615047
|
|
|
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile)
|
rs1555615047
|
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
|
NM_001042492.3(NF1):c.3623T>G (p.Leu1208Trp)
|
rs1060500374
|
|
|
NM_001042492.3(NF1):c.3641T>G (p.Met1214Arg)
|
rs1567851416
|
|
|
NM_001042492.3(NF1):c.3649G>A (p.Asp1217Asn)
|
|
|
|
NM_001042492.3(NF1):c.3650A>T (p.Asp1217Val)
|
|
|
|
NM_001042492.3(NF1):c.3651T>G (p.Asp1217Glu)
|
rs1135402846
|
|
|
NM_001042492.3(NF1):c.3656G>A (p.Gly1219Glu)
|
rs878853885
|
|
|
NM_001042492.3(NF1):c.3676del (p.Ala1226fs)
|
|
|
|
NM_001042492.3(NF1):c.3695_3696delinsA (p.Pro1232fs)
|
|
|
|
NM_001042492.3(NF1):c.3706T>C (p.Trp1236Arg)
|
rs1555615111
|
|
|
NM_001042492.3(NF1):c.3708+1G>A
|
rs1420779915
|
|
|
NM_001042492.3(NF1):c.3708+2dup
|
|
|
|
NM_001042492.3(NF1):c.3708+3A>T
|
rs1555615114
|
|
|
NM_001042492.3(NF1):c.3708+5G>A
|
rs1597720280
|
|
|
NM_001042492.3(NF1):c.3709_3714del (p.Asp1237_Glu1238del)
|
rs2151437703
|
|
|
NM_001042492.3(NF1):c.3716T>G (p.Leu1239Arg)
|
rs1597722390
|
|
|
NM_001042492.3(NF1):c.3728T>G (p.Leu1243Arg)
|
rs137854564
|
|
|
NM_001042492.3(NF1):c.3736_3737del (p.Leu1246fs)
|
rs2067186293
|
|
|
NM_001042492.3(NF1):c.3737T>C (p.Leu1246Pro)
|
rs2151437777
|
|
|
NM_001042492.3(NF1):c.3739T>A (p.Phe1247Ile)
|
|
|
|
NM_001042492.3(NF1):c.3772T>A (p.Trp1258Arg)
|
|
|
|
NM_001042492.3(NF1):c.3772T>C (p.Trp1258Arg)
|
rs1597722508
|
|
|
NM_001042492.3(NF1):c.3787_3788insT (p.Lys1263fs)
|
rs1555615467
|
|
|
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys)
|
rs863224660
|
|
|
NM_001042492.3(NF1):c.3791_3801del (p.Glu1264fs)
|
rs1555615469
|
|
|
NM_001042492.3(NF1):c.3796_3797del (p.Glu1266fs)
|
rs2151437911
|
|
|
NM_001042492.3(NF1):c.3818del (p.Thr1273fs)
|
rs2067188459
|
|
|
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)
|
rs199474742
|
|
|
NM_001042492.3(NF1):c.3826del (p.Arg1276fs)
|
rs2067188667
|
|
|
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=)
|
rs1597722611
|
|
|
NM_001042492.3(NF1):c.3832A>T (p.Asn1278Tyr)
|
rs1306874240
|
|
|
NM_001042492.3(NF1):c.3833A>T (p.Asn1278Ile)
|
rs2067188951
|
|
|
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys)
|
rs1135402850
|
|
|
NM_001042492.3(NF1):c.3849AAT[1] (p.Ile1284del)
|
|
|
|
NM_001042492.3(NF1):c.3864T>A (p.Cys1288Ter)
|
rs1555615495
|
|
|
NM_001042492.3(NF1):c.3870+1G>A
|
rs1131691075
|
|
|
NM_001042492.3(NF1):c.3870+2T>A
|
|
|
|
NM_001042492.3(NF1):c.3870G>C (p.Lys1290Asn)
|
rs1555615497
|
|
|
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys)
|
rs1060500243
|
|
|
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter)
|
rs2067193761
|
|
|
NM_001042492.3(NF1):c.3911T>G (p.Leu1304Ter)
|
rs761512189
|
|
|
NM_001042492.3(NF1):c.391del (p.Ala131fs)
|
|
|
|
NM_001042492.3(NF1):c.3974+2T>C
|
rs1555615567
|
|
|
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr)
|
rs863224447
|
|
|
NM_001042492.3(NF1):c.3974G>T (p.Arg1325Met)
|
rs863224447
|
|
|
NM_001042492.3(NF1):c.3975-11_3978del
|
|
|
|
NM_001042492.3(NF1):c.3G>T (p.Met1Ile)
|
|
|
|
NM_001042492.3(NF1):c.4013del (p.Asn1338fs)
|
|
|
|
NM_001042492.3(NF1):c.4016T>G (p.Leu1339Arg)
|
rs1567858306
|
|
|
NM_001042492.3(NF1):c.4018del (p.Leu1340fs)
|
rs2067448975
|
|
|
NM_001042492.3(NF1):c.4027A>C (p.Thr1343Pro)
|
rs2151451431
|
|
|
NM_001042492.3(NF1):c.4066_4067del (p.Glu1356fs)
|
|
|
|
NM_001042492.3(NF1):c.4070del (p.Phe1357fs)
|
rs1555617354
|
|
|
NM_001042492.3(NF1):c.4076_4077insA (p.Gln1360fs)
|
rs1555617364
|
|
|
NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg)
|
rs2151451647
|
|
|
NM_001042492.3(NF1):c.4099_4108dup (p.Gln1370fs)
|
rs2067451446
|
|
|
NM_001042492.3(NF1):c.4109_4110delinsCC (p.Gln1370Pro)
|
rs2151451687
|
|
|
NM_001042492.3(NF1):c.4110+1del
|
rs2151451697
|
|
|
NM_001042492.3(NF1):c.412G>C (p.Ala138Pro)
|
rs1597635936
|
|
|
NM_001042492.3(NF1):c.4174-2del
|
rs2151461734
|
|
|
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter)
|
rs1555618494
|
|
|
NM_001042492.3(NF1):c.4185dup (p.Arg1396fs)
|
rs2067620305
|
|
|
NM_001042492.3(NF1):c.4208del (p.Gly1403fs)
|
rs2067621019
|
|
|
NM_001042492.3(NF1):c.4225dup (p.Met1409fs)
|
|
|
|
NM_001042492.3(NF1):c.4226T>G (p.Met1409Arg)
|
rs1555618508
|
|
|
NM_001042492.3(NF1):c.4228T>A (p.Phe1410Ile)
|
rs2151461937
|
|
|
NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val)
|
rs199474789
|
|
|
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)
|
rs199474789
|
|
|
NM_001042492.3(NF1):c.4235G>A (p.Arg1412Lys)
|
|
|
|
NM_001042492.3(NF1):c.4235_4240del (p.Arg1412_Phe1413del)
|
rs2151461951
|
|
|
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser)
|
rs137854554
|
|
|
NM_001042492.3(NF1):c.4243A>G (p.Asn1415Asp)
|
rs1555618518
|
|
|
NM_001042492.3(NF1):c.4243A>T (p.Asn1415Tyr)
|
rs1555618518
|
|
|
NM_001042492.3(NF1):c.4252del (p.Ile1418fs)
|
rs1783539066
|
|
|
NM_001042492.3(NF1):c.4256T>A (p.Val1419Asp)
|
rs1555618528
|
|
|
NM_001042492.3(NF1):c.4258T>C (p.Ser1420Pro)
|
rs1555618533
|
|
|
NM_001042492.3(NF1):c.425_439del (p.Leu142_Ser146del)
|
|
|
|
NM_001042492.3(NF1):c.4285A>T (p.Lys1429Ter)
|
rs758915600
|
|
|
NM_001042492.3(NF1):c.430dup (p.Ser144fs)
|
|
|
|
NM_001042492.3(NF1):c.4316T>A (p.Leu1439Ter)
|
rs1567862071
|
|
|
NM_001042492.3(NF1):c.4321T>G (p.Leu1441Val)
|
|
|
|
NM_001042492.3(NF1):c.4321_4322insATT (p.Lys1440_Leu1441insTyr)
|
|
|
|
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln)
|
rs137854550
|
|
|
NM_001042492.3(NF1):c.4332+1G>T
|
rs1555618572
|
|
|
NM_001042492.3(NF1):c.4332+2T>C
|
rs786204207
|
|
|
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=)
|
rs199474750
|
|
|
NM_001042492.3(NF1):c.4332G>C (p.Lys1444Asn)
|
rs199474750
|
|
|
NM_001042492.3(NF1):c.4333-2del
|
rs886041630
|
|
|
NM_001042492.3(NF1):c.4339C>T (p.Gln1447Ter)
|
rs1135402857
|
|
|
NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro)
|
rs786204157
|
|
|
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His)
|
rs876660206
|
|
|
NM_001042492.3(NF1):c.4344_4345insCCT (p.Ser1448_Ile1449insPro)
|
rs1597745583
|
|
|
NM_001042492.3(NF1):c.4348G>A (p.Ala1450Thr)
|
rs2151462979
|
|
|
NM_001042492.3(NF1):c.434T>G (p.Leu145Arg)
|
|
|
|
NM_001042492.3(NF1):c.4351A>C (p.Asn1451His)
|
|
|
|
NM_001042492.3(NF1):c.4353T>G (p.Asn1451Lys)
|
|
|
|
NM_001042492.3(NF1):c.4367del (p.Thr1456fs)
|
rs2067637088
|
|
|
NM_001042492.3(NF1):c.4369_4371del (p.Lys1457del)
|
rs1555618653
|
|
|
NM_001042492.3(NF1):c.4370A>C (p.Lys1457Thr)
|
|
|
|
NM_001042492.3(NF1):c.4370A>G (p.Lys1457Arg)
|
rs1555618656
|
|
|
NM_001042492.3(NF1):c.4371A>T (p.Lys1457Asn)
|
rs1555618658
|
|
|
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)
|
rs267606607
|
|
|
NM_001042492.3(NF1):c.4379A>C (p.His1460Pro)
|
|
|
|
NM_001042492.3(NF1):c.4381A>G (p.Met1461Val)
|
rs1555618675
|
|
|
NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu)
|
rs1555618675
|
|
|
NM_001042492.3(NF1):c.4382T>A (p.Met1461Lys)
|
rs754639587
|
|
|
NM_001042492.3(NF1):c.4382T>G (p.Met1461Arg)
|
rs754639587
|
|
|
NM_001042492.3(NF1):c.4383G>A (p.Met1461Ile)
|
rs1555618677
|
|
|
NM_001042492.3(NF1):c.4397_4423del (p.Asp1466_Ala1474del)
|
rs2151463132
|
|
|
NM_001042492.3(NF1):c.4403T>G (p.Val1468Gly)
|
rs1135402860
|
|
|
NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs)
|
rs1567862349
|
|
|
NM_001042492.3(NF1):c.4430+1G>C
|
rs773151680
|
|
|
NM_001042492.3(NF1):c.4430+2T>C
|
rs1555618693
|
|
|
NM_001042492.3(NF1):c.4431-9T>G
|
rs1597746884
|
|
|
NM_001042492.3(NF1):c.4489del (p.Ser1497fs)
|
rs2067664000
|
|
|
NM_001042492.3(NF1):c.4520del (p.Leu1507fs)
|
rs2151464729
|
|
|
NM_001042492.3(NF1):c.4532T>C (p.Leu1511Pro)
|
rs1135402864
|
|
|
NM_001042492.3(NF1):c.4532T>G (p.Leu1511Arg)
|
rs1135402864
|
|
|
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg)
|
rs1135402865
|
|
|
NM_001042492.3(NF1):c.4554dup (p.Gly1519fs)
|
|
|
|
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu)
|
rs1567863004
|
|
|
NM_001042492.3(NF1):c.4577+2T>G
|
rs1597747184
|
|
|
NM_001042492.3(NF1):c.4578-20_4578-18del
|
rs1597748617
|
|
|
NM_001042492.3(NF1):c.4585A>T (p.Lys1529Ter)
|
|
|
|
NM_001042492.3(NF1):c.4606T>G (p.Phe1536Val)
|
|
|
|
NM_001042492.3(NF1):c.4608_4611delinsC (p.Asp1537del)
|
rs2151466254
|
|
|
NM_001042492.3(NF1):c.4611_4612del (p.Asp1537fs)
|
|
|
|
NM_001042492.3(NF1):c.4619C>A (p.Ala1540Glu)
|
rs2151466279
|
|
|
NM_001042492.3(NF1):c.4619_4622delinsAA (p.Ala1540fs)
|
rs2067690116
|
|
|
NM_001042492.3(NF1):c.4634_4636del (p.Tyr1545del)
|
|
|
|
NM_001042492.3(NF1):c.4648G>T (p.Glu1550Ter)
|
|
|
|
NM_001042492.3(NF1):c.4658del (p.Pro1553fs)
|
rs1555619029
|
|
|
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs)
|
rs1555619033
|
|
|
NM_001042492.3(NF1):c.4720_4724del (p.Thr1574fs)
|
rs2067692232
|
|
|
NM_001042492.3(NF1):c.4725-15_4725-3del
|
rs2151469964
|
|
|
NM_001042492.3(NF1):c.4725-1G>A
|
rs1555619391
|
|
|
NM_001042492.3(NF1):c.4738G>T (p.Glu1580Ter)
|
rs2067764827
|
|
|
NM_001042492.3(NF1):c.4744_4745del (p.Glu1582fs)
|
rs1555619395
|
|
|
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer)
|
rs2151470108
|
|
|
NM_001042492.3(NF1):c.4779C>A (p.Phe1593Leu)
|
rs2151470179
|
|
|
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro)
|
rs2151470213
|
|
|
NM_001042492.3(NF1):c.479+1G>T
|
rs1555606137
|
|
|
NM_001042492.3(NF1):c.479+1_479+1356del
|
|
|
|
NM_001042492.3(NF1):c.479+5G>C
|
rs1567818033
|
|
|
NM_001042492.3(NF1):c.479+5G>T
|
rs1567818033
|
|
|
NM_001042492.3(NF1):c.4791del (p.Thr1598fs)
|
|
|
|
NM_001042492.3(NF1):c.4796C>A (p.Ser1599Tyr)
|
rs1555619407
|
|
|
NM_001042492.3(NF1):c.480-5_482del
|
|
|
|
NM_001042492.3(NF1):c.480-8_480-2delinsTTTTAT
|
|
|
|
NM_001042492.3(NF1):c.4821T>A (p.Tyr1607Ter)
|
rs1555619416
|
|
|
NM_001042492.3(NF1):c.4829C>A (p.Ala1610Glu)
|
|
|
|
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln)
|
rs876659197
|
|
|
NM_001042492.3(NF1):c.4835+1G>T
|
rs1085307819
|
|
|
NM_001042492.3(NF1):c.4836-1G>A
|
rs1057518326
|
|
|
NM_001042492.3(NF1):c.4836-2A>G
|
|
|
|
NM_001042492.3(NF1):c.4836G>C (p.Arg1612Ser)
|
rs1555533268
|
|
|
NM_001042492.3(NF1):c.4868T>C (p.Leu1623Pro)
|
rs2151537585
|
|
|
NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp)
|
rs1567611231
|
|
|
NM_001042492.3(NF1):c.4884dup (p.Leu1629fs)
|
|
|
|
NM_001042492.3(NF1):c.4885del (p.Leu1628_Leu1629insTer)
|
rs2069326575
|
|
|
NM_001042492.3(NF1):c.4886T>C (p.Leu1629Pro)
|
rs1555533288
|
|
|
NM_001042492.3(NF1):c.4889_4899del (p.Thr1630fs)
|
|
|
|
NM_001042492.3(NF1):c.4910del (p.Lys1637fs)
|
|
|
|
NM_001042492.3(NF1):c.4915T>G (p.Tyr1639Asp)
|
rs2151537742
|
|
|
NM_001042492.3(NF1):c.4922T>C (p.Ile1641Thr)
|
rs1567611281
|
|
|
NM_001042492.3(NF1):c.4930G>A (p.Asp1644Asn)
|
rs1131691123
|
|
|
NM_001042492.3(NF1):c.4930G>C (p.Asp1644His)
|
rs1131691123
|
|
|
NM_001042492.3(NF1):c.4930G>T (p.Asp1644Tyr)
|
rs1131691123
|
|
|
NM_001042492.3(NF1):c.4931A>T (p.Asp1644Val)
|
|
|
|
NM_001042492.3(NF1):c.4940A>C (p.His1647Pro)
|
rs1555533307
|
|
|
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter)
|
rs2069329774
|
|
|
NM_001042492.3(NF1):c.4998del (p.Pro1667fs)
|
rs1135402867
|
|
|
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del)
|
rs1135402868
|
|
|
NM_001042492.3(NF1):c.5032T>G (p.Tyr1678Asp)
|
|
|
|
NM_001042492.3(NF1):c.5033A>C (p.Tyr1678Ser)
|
rs1555533347
|
|
|
NM_001042492.3(NF1):c.5035_5037del (p.Ile1679del)
|
rs2151538219
|
|
|
NM_001042492.3(NF1):c.5040dup (p.Asn1681Ter)
|
|
|
|
NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg)
|
rs1597829901
|
|
|
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)
|
rs1597829906
|
|
|
NM_001042492.3(NF1):c.5059_5060del (p.Arg1687fs)
|
|
|
|
NM_001042492.3(NF1):c.5065dup (p.Tyr1689fs)
|
rs1555533359
|
|
|
NM_001042492.3(NF1):c.5072_5073delinsCCC (p.Lys1691fs)
|
rs1555533363
|
|
|
NM_001042492.3(NF1):c.5079del (p.His1693fs)
|
rs1597829969
|
|
|
NM_001042492.3(NF1):c.50T>C (p.Phe17Ser)
|
rs1911557433
|
|
|
NM_001042492.3(NF1):c.5118del (p.Val1707fs)
|
rs1597830046
|
|
|
NM_001042492.3(NF1):c.5129del (p.Asp1710fs)
|
rs2069334590
|
|
|
NM_001042492.3(NF1):c.5188A>C (p.Thr1730Pro)
|
|
|
|
NM_001042492.3(NF1):c.5202del (p.Glu1735fs)
|
|
|
|
NM_001042492.3(NF1):c.5236dup (p.Leu1746fs)
|
rs2069337884
|
|
|
NM_001042492.3(NF1):c.5268+2T>G
|
rs1555533416
|
|
|
NM_001042492.3(NF1):c.5268+5G>C
|
rs864622551
|
|
|
NM_001042492.3(NF1):c.5268+5G>T
|
|
|
|
NM_001042492.3(NF1):c.5269-14C>G
|
rs753463683
|
|
|
NM_001042492.3(NF1):c.5269-1G>C
|
rs876660141
|
|
|
NM_001042492.3(NF1):c.5269-38A>G
|
rs2151540615
|
|
|
NM_001042492.3(NF1):c.5269-8C>G
|
rs1597831805
|
|
|
NM_001042492.3(NF1):c.5285T>A (p.Val1762Asp)
|
rs1555533550
|
|
|
NM_001042492.3(NF1):c.5286_5295del (p.Val1764fs)
|
|
|
|
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter)
|
rs1555533555
|
|
|
NM_001042492.3(NF1):c.530T>A (p.Ile177Lys)
|
|
|
|
NM_001042492.3(NF1):c.530T>G (p.Ile177Arg)
|
rs2143707493
|
|
|
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)
|
rs1131691103
|
|
|
NM_001042492.3(NF1):c.5329del (p.Val1777fs)
|
rs2069377259
|
|
|
NM_001042492.3(NF1):c.5347del (p.Tyr1783fs)
|
rs1567612415
|
|
|
NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter)
|
rs1555533569
|
|
|
NM_001042492.3(NF1):c.5374del (p.Cys1792fs)
|
rs2069378463
|
|
|
NM_001042492.3(NF1):c.5376C>A (p.Cys1792Ter)
|
rs1597832002
|
|
|
NM_001042492.3(NF1):c.5387del (p.Glu1796fs)
|
rs2069379168
|
|
|
NM_001042492.3(NF1):c.5398A>C (p.Thr1800Pro)
|
rs2151541217
|
|
|
NM_001042492.3(NF1):c.5410delinsTT (p.Ala1804fs)
|
|
|
|
NM_001042492.3(NF1):c.541_542del (p.Gln181fs)
|
rs1135402790
|
|
|
NM_001042492.3(NF1):c.5476C>G (p.His1826Asp)
|
rs1135402871
|
|
|
NM_001042492.3(NF1):c.5477_5478insG (p.His1826fs)
|
|
|
|
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly)
|
rs797045139
|
|
|
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)
|
rs771529172
|
|
|
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)
|
rs771529172
|
|
|
NM_001042492.3(NF1):c.5491T>G (p.Trp1831Gly)
|
rs2069382435
|
|
|
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter)
|
rs786203570
|
|
|
NM_001042492.3(NF1):c.5534T>C (p.Ile1845Thr)
|
rs1060500339
|
|
|
NM_001042492.3(NF1):c.5546A>G (p.Asp1849Gly)
|
|
|
|
NM_001042492.3(NF1):c.5548G>T (p.Val1850Phe)
|
rs1597832397
|
|
|
NM_001042492.3(NF1):c.5552C>T (p.Pro1851Leu)
|
rs1555533638
|
|
|
NM_001042492.3(NF1):c.5560_5562delinsT (p.Leu1854fs)
|
rs1555533641
|
|
|
NM_001042492.3(NF1):c.5561T>C (p.Leu1854Pro)
|
rs878853903
|
|
|
NM_001042492.3(NF1):c.5564T>G (p.Leu1855Arg)
|
rs2069385520
|
|
|
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)
|
rs1567820765
|
|
|
NM_001042492.3(NF1):c.5571del (p.Ile1857fs)
|
rs1135402874
|
|
|
NM_001042492.3(NF1):c.557A>T (p.Asp186Val)
|
rs1567820771
|
|
|
NM_001042492.3(NF1):c.5583T>G (p.Asn1861Lys)
|
rs2151541871
|
|
|
NM_001042492.3(NF1):c.5585T>G (p.Leu1862Ter)
|
rs2151541881
|
|
|
NM_001042492.3(NF1):c.5606dup (p.Leu1869fs)
|
rs2069386536
|
|
|
NM_001042492.3(NF1):c.5609+5G>A
|
rs1597832498
|
|
|
NM_001042492.3(NF1):c.5609+5G>C
|
rs1597832498
|
|
|
NM_001042492.3(NF1):c.5609+5G>T
|
rs1597832498
|
|
|
NM_001042492.3(NF1):c.5609_5609+1delinsAA
|
rs2069386760
|
|
|
NM_001042492.3(NF1):c.5610-2A>T
|
rs1135402876
|
|
|
NM_001042492.3(NF1):c.5624A>G (p.Asn1875Ser)
|
rs1555533843
|
|
|
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del)
|
rs1131691081
|
|
|
NM_001042492.3(NF1):c.5629C>A (p.Leu1877Met)
|
|
|
|
NM_001042492.3(NF1):c.5650T>C (p.Phe1884Leu)
|
rs1060500378
|
|
|
NM_001042492.3(NF1):c.5651T>G (p.Phe1884Cys)
|
|
|
|
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu)
|
rs1567613616
|
|
|
NM_001042492.3(NF1):c.5662del (p.Ile1888fs)
|
rs2069449497
|
|
|
NM_001042492.3(NF1):c.5663dup (p.Glu1889fs)
|
rs1555533856
|
|
|
NM_001042492.3(NF1):c.5668G>C (p.Gly1890Arg)
|
rs1597834706
|
|
|
NM_001042492.3(NF1):c.5668G>T (p.Gly1890Cys)
|
rs1597834706
|
|
|
NM_001042492.3(NF1):c.567del (p.Lys189fs)
|
rs2143708010
|
|
|
NM_001042492.3(NF1):c.5711A>G (p.Asn1904Ser)
|
rs864622647
|
|
|
NM_001042492.3(NF1):c.5731dup (p.Ile1911fs)
|
rs2069452094
|
|
|
NM_001042492.3(NF1):c.5734A>C (p.Ser1912Arg)
|
|
|
|
NM_001042492.3(NF1):c.5736T>G (p.Ser1912Arg)
|
|
|
|
NM_001042492.3(NF1):c.573del (p.Lys191fs)
|
rs2065904589
|
|
|
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro)
|
rs1555533875
|
|
|
NM_001042492.3(NF1):c.5767A>T (p.Thr1923Ser)
|
rs2151544901
|
|
|
NM_001042492.3(NF1):c.5780del (p.Leu1927fs)
|
rs1135402880
|
|
|
NM_001042492.3(NF1):c.5786_5787del (p.Glu1929fs)
|
rs1555533882
|
|
|
NM_001042492.3(NF1):c.5787G>T (p.Glu1929Asp)
|
rs786202591
|
|
|
NM_001042492.3(NF1):c.5788T>C (p.Cys1930Arg)
|
rs2069454402
|
|
|
NM_001042492.3(NF1):c.5792_5812+7del
|
|
|
|
NM_001042492.3(NF1):c.579_581del (p.Leu194del)
|
rs2143708173
|
|
|
NM_001042492.3(NF1):c.5812+1G>T
|
rs876658854
|
|
|
NM_001042492.3(NF1):c.5812+1del
|
rs2151545014
|
|
|
NM_001042492.3(NF1):c.5812+2_5812+3insTA
|
rs2069454921
|
|
|
NM_001042492.3(NF1):c.5812+2dup
|
rs1597834973
|
|
|
NM_001042492.3(NF1):c.5812+4A>C
|
rs1597834988
|
|
|
NM_001042492.3(NF1):c.5812+5G>T
|
|
|
|
NM_001042492.3(NF1):c.5813-177A>C
|
|
|
|
NM_001042492.3(NF1):c.5813-1G>A
|
rs1057518974
|
|
|
NM_001042492.3(NF1):c.5813-4_5817del
|
|
|
|
NM_001042492.3(NF1):c.5836T>A (p.Leu1946Met)
|
rs1422333640
|
|
|
NM_001042492.3(NF1):c.5847del (p.Met1949fs)
|
rs1597840055
|
|
|
NM_001042492.3(NF1):c.5852dup (p.Trp1952fs)
|
rs2069602426
|
|
|
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg)
|
rs199474791
|
|
|
NM_001042492.3(NF1):c.5857C>G (p.Leu1953Val)
|
|
|
|
NM_001042492.3(NF1):c.586+2T>C
|
rs1135402791
|
|
|
NM_001042492.3(NF1):c.5867T>G (p.Leu1956Arg)
|
rs1597840087
|
|
|
NM_001042492.3(NF1):c.587-2A>G
|
rs1057518360
|
|
|
NM_001042492.3(NF1):c.58C>T (p.Gln20Ter)
|
rs1567786905
|
|
|
NM_001042492.3(NF1):c.590C>G (p.Thr197Arg)
|
rs1597658021
|
|
|
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro)
|
rs1555534411
|
|
|
NM_001042492.3(NF1):c.5933T>C (p.Leu1978Pro)
|
rs2069606635
|
|
|
NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg)
|
rs2069606635
|
|
|
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)
|
rs876660696
|
|
|
NM_001042492.3(NF1):c.59_60+4del
|
rs2143145870
|
|
|
NM_001042492.3(NF1):c.60+1G>C
|
rs1555594500
|
|
|
NM_001042492.3(NF1):c.60+2T>C
|
rs2143145948
|
|
|
NM_001042492.3(NF1):c.60+2del
|
rs1131691101
|
|
|
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg)
|
rs199474751
|
|
|
NM_001042492.3(NF1):c.6007-1G>A
|
rs1555534596
|
|
|
NM_001042492.3(NF1):c.6022G>C (p.Asp2008His)
|
rs786201924
|
|
|
NM_001042492.3(NF1):c.6023A>C (p.Asp2008Ala)
|
rs2069668717
|
|
|
NM_001042492.3(NF1):c.6023A>T (p.Asp2008Val)
|
rs2069668717
|
|
|
NM_001042492.3(NF1):c.6040_6041del (p.Phe2014fs)
|
|
|
|
NM_001042492.3(NF1):c.6052A>C (p.Ser2018Arg)
|
rs2151553286
|
|
|
NM_001042492.3(NF1):c.6053G>T (p.Ser2018Ile)
|
|
|
|
NM_001042492.3(NF1):c.60G>C (p.Gln20His)
|
rs1911559787
|
|
|
NM_001042492.3(NF1):c.610dup (p.Leu204fs)
|
rs1135402793
|
|
|
NM_001042492.3(NF1):c.6118T>C (p.Ser2040Pro)
|
rs1567616704
|
|
|
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe)
|
rs2069671270
|
|
|
NM_001042492.3(NF1):c.6147+1G>C
|
rs1060500296
|
|
|
NM_001042492.3(NF1):c.6147+2T>C
|
rs1555534621
|
|
|
NM_001042492.3(NF1):c.6147G>A (p.Lys2049=)
|
|
|
|
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn)
|
rs1135402882
|
|
|
NM_001042492.3(NF1):c.6148-16T>G
|
rs769223408
|
|
|
NM_001042492.3(NF1):c.6148-1G>C
|
rs1555534661
|
|
|
NM_001042492.3(NF1):c.6148-2A>G
|
rs2069681259
|
|
|
NM_001042492.3(NF1):c.6221del (p.Met2074fs)
|
rs2069683635
|
|
|
NM_001042492.3(NF1):c.6227_6228dup (p.Asp2077fs)
|
rs1555534680
|
|
|
NM_001042492.3(NF1):c.6252C>A (p.Tyr2084Ter)
|
rs2069684411
|
|
|
NM_001042492.3(NF1):c.6296dup (p.His2099fs)
|
|
|
|
NM_001042492.3(NF1):c.6299T>G (p.Leu2100Arg)
|
rs1555534708
|
|
|
NM_001042492.3(NF1):c.6304dup (p.Tyr2102fs)
|
rs1555534712
|
|
|
NM_001042492.3(NF1):c.6314A>C (p.His2105Pro)
|
rs1555534726
|
|
|
NM_001042492.3(NF1):c.6355A>T (p.Arg2119Ter)
|
rs2151554939
|
|
|
NM_001042492.3(NF1):c.6374T>A (p.Leu2125Gln)
|
|
|
|
NM_001042492.3(NF1):c.6374T>C (p.Leu2125Pro)
|
rs1597843129
|
|
|
NM_001042492.3(NF1):c.6374T>G (p.Leu2125Arg)
|
rs1597843129
|
|
|
NM_001042492.3(NF1):c.6398T>G (p.Leu2133Arg)
|
rs2069690617
|
|
|
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)
|
rs1597843186
|
|
|
NM_001042492.3(NF1):c.6428-1_6428del
|
|
|
|
NM_001042492.3(NF1):c.6428-1del
|
|
|
|
NM_001042492.3(NF1):c.6428-2A>C
|
rs1060500312
|
|
|
NM_001042492.3(NF1):c.6428-3C>A
|
rs374014162
|
|
|
NM_001042492.3(NF1):c.6428-3C>G
|
rs374014162
|
|
|
NM_001042492.3(NF1):c.6459_6476del (p.Thr2154_Pro2159del)
|
|
|
|
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs)
|
rs1135402888
|
|
|
NM_001042492.3(NF1):c.6507_6921+170del
|
|
|
|
NM_001042492.3(NF1):c.6517dup (p.Ala2173fs)
|
|
|
|
NM_001042492.3(NF1):c.655-2A>C
|
rs1555608734
|
|
|
NM_001042492.3(NF1):c.6600del (p.Ser2201fs)
|
rs1135402892
|
|
|
NM_001042492.3(NF1):c.6642+18A>G
|
rs1555534893
|
|
|
NM_001042492.3(NF1):c.6643-1G>A
|
|
|
|
NM_001042492.3(NF1):c.6643-2del
|
|
|
|
NM_001042492.3(NF1):c.6645del (p.Cys2216fs)
|
rs1555534913
|
|
|
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter)
|
rs1555534918
|
|
|
NM_001042492.3(NF1):c.6671_6672insT (p.Lys2224fs)
|
|
|
|
NM_001042492.3(NF1):c.6671del (p.Lys2224fs)
|
rs1555534919
|
|
|
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter)
|
rs2069717916
|
|
|
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg)
|
rs1555608740
|
|
|
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg)
|
rs1060500342
|
|
|
NM_001042492.3(NF1):c.6685T>G (p.Trp2229Gly)
|
rs1060500342
|
|
|
NM_001042492.3(NF1):c.6705-17G>A
|
rs1064795966
|
|
|
NM_001042492.3(NF1):c.6705-1G>A
|
rs1060500356
|
|
|
NM_001042492.3(NF1):c.6705-1del
|
|
|
|
NM_001042492.3(NF1):c.6705-3C>A
|
rs1131691079
|
|
|
NM_001042492.3(NF1):c.6780_6791delinsATGAGAC (p.His2261_Ile2264delinsTer)
|
rs1555534952
|
|
|
NM_001042492.3(NF1):c.6810del (p.Ser2272fs)
|
rs1135402893
|
|
|
NM_001042492.3(NF1):c.6818A>C (p.Lys2273Thr)
|
|
|
|
NM_001042492.3(NF1):c.6819+2T>C
|
rs1135402894
|
|
|
NM_001042492.3(NF1):c.6819+3del
|
rs2069728377
|
|
|
NM_001042492.3(NF1):c.6819G>A (p.Lys2273=)
|
rs1060500373
|
|
|
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn)
|
rs1060500373
|
|
|
NM_001042492.3(NF1):c.6820-2A>G
|
|
|
|
NM_001042492.3(NF1):c.6820-3A>G
|
|
|
|
NM_001042492.3(NF1):c.6829_6830del (p.Ser2277fs)
|
rs2069742524
|
|
|
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs)
|
rs1555535027
|
|
|
NM_001042492.3(NF1):c.6845C>T (p.Pro2282Leu)
|
rs2069743547
|
|
|
NM_001042492.3(NF1):c.6855dup (p.Asn2286fs)
|
rs1555535041
|
|
|
NM_001042492.3(NF1):c.6864A>G (p.Gln2288=)
|
rs1064794756
|
|
|
NM_001042492.3(NF1):c.6893T>C (p.Leu2298Pro)
|
rs1597846070
|
|
|
NM_001042492.3(NF1):c.68del (p.Ile23fs)
|
rs1057518884
|
|
|
NM_001042492.3(NF1):c.6905_6921+8del
|
|
|
|
NM_001042492.3(NF1):c.6921+1G>A
|
rs1060500355
|
|
|
NM_001042492.3(NF1):c.6921+2T>A
|
rs1555535053
|
|
|
NM_001042492.3(NF1):c.6921+3A>G
|
rs1085307885
|
|
|
NM_001042492.3(NF1):c.6921+4A>G
|
rs752841251
|
|
|
NM_001042492.3(NF1):c.6921G>A (p.Lys2307=)
|
rs1057523533
|
|
|
NM_001042492.3(NF1):c.6921G>C (p.Lys2307Asn)
|
rs1057523533
|
|
|
NM_001042492.3(NF1):c.6939del (p.Ala2314fs)
|
rs2069790028
|
|
|
NM_001042492.3(NF1):c.6944T>G (p.Leu2315Arg)
|
rs2151561538
|
|
|
NM_001042492.3(NF1):c.6949T>C (p.Trp2317Arg)
|
|
|
|
NM_001042492.3(NF1):c.6952_6955del (p.Val2318fs)
|
rs1555535163
|
|
|
NM_001042492.3(NF1):c.6979_6980insTA (p.Glu2327fs)
|
rs1555535171
|
|
|
NM_001042492.3(NF1):c.6994_6995delinsATTT (p.Ser2332fs)
|
rs2069792273
|
|
|
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg)
|
rs1597848100
|
|
|
NM_001042492.3(NF1):c.7001G>A (p.Gly2334Asp)
|
rs2151561783
|
|
|
NM_001042492.3(NF1):c.7001del (p.Gly2334fs)
|
|
|
|
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg)
|
rs1555535179
|
|
|
NM_001042492.3(NF1):c.7013T>G (p.Leu2338Arg)
|
rs2151561836
|
|
|
NM_001042492.3(NF1):c.7025T>G (p.Leu2342Arg)
|
rs2151561874
|
|
|
NM_001042492.3(NF1):c.7062+2T>C
|
rs1135402898
|
|
|
NM_001042492.3(NF1):c.7062+2del
|
rs2069795581
|
|
|
NM_001042492.3(NF1):c.7063-10_7066del
|
|
|
|
NM_001042492.3(NF1):c.7063-4A>G
|
rs749805168
|
|
|
NM_001042492.3(NF1):c.7063-6_7063-2del
|
|
|
|
NM_001042492.3(NF1):c.7063-7_7063-2del
|
|
|
|
NM_001042492.3(NF1):c.7115del (p.Lys2372fs)
|
rs2151565074
|
|
|
NM_001042492.3(NF1):c.7151_7152insG (p.Ser2384_Asn2385insTer)
|
|
|
|
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
|
rs864622639
|
|
|
NM_001042492.3(NF1):c.7156T>A (p.Phe2386Ile)
|
|
|
|
NM_001042492.3(NF1):c.7169_7170insAACC (p.Val2391fs)
|
rs2151565268
|
|
|
NM_001042492.3(NF1):c.7169_7178delinsCAGC (p.Leu2390_His2393delinsSerAla)
|
rs1555535448
|
|
|
NM_001042492.3(NF1):c.7172T>A (p.Val2391Asp)
|
rs2069869918
|
|
|
NM_001042492.3(NF1):c.7175del (p.Gly2392fs)
|
rs2069870034
|
|
|
NM_001042492.3(NF1):c.7181T>G (p.Leu2394Arg)
|
rs1135402899
|
|
|
NM_001042492.3(NF1):c.7189+2_7189+6del
|
|
|
|
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg)
|
rs1135402900
|
|
|
NM_001042492.3(NF1):c.7190-1G>A
|
rs2070073417
|
|
|
NM_001042492.3(NF1):c.7226C>G (p.Thr2409Arg)
|
|
|
|
NM_001042492.3(NF1):c.723_730+4del
|
|
|
|
NM_001042492.3(NF1):c.7248_7249del (p.Leu2417fs)
|
|
|
|
NM_001042492.3(NF1):c.7278_7279del (p.Cys2426_Asp2427delinsTer)
|
rs2070076932
|
|
|
NM_001042492.3(NF1):c.730+1G>T
|
rs1060500274
|
|
|
NM_001042492.3(NF1):c.730+2T>C
|
|
|
|
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del)
|
rs1085307506
|
|
|
NM_001042492.3(NF1):c.7321+1G>T
|
rs1135402903
|
|
|
NM_001042492.3(NF1):c.7322-1G>A
|
rs2070102904
|
|
|
NM_001042492.3(NF1):c.7322-1G>C
|
rs2070102904
|
|
|
NM_001042492.3(NF1):c.7322-2A>G
|
|
|
|
NM_001042492.3(NF1):c.7322-2A>T
|
|
|
|
NM_001042492.3(NF1):c.7322-2_7324del
|
|
|
|
NM_001042492.3(NF1):c.737C>A (p.Ala246Glu)
|
rs2066155612
|
|
|
NM_001042492.3(NF1):c.7456_7457+7del
|
rs2070109067
|
|
|
NM_001042492.3(NF1):c.7457+1G>A
|
rs2151574698
|
|
|
NM_001042492.3(NF1):c.7457+1G>T
|
rs2151574698
|
|
|
NM_001042492.3(NF1):c.7457+2T>G
|
rs2151574701
|
|
|
NM_001042492.3(NF1):c.7458-17T>G
|
rs766585105
|
|
|
NM_001042492.3(NF1):c.7458-7_7459delinsT
|
rs1555536334
|
|
|
NM_001042492.3(NF1):c.7509C>A (p.Tyr2503Ter)
|
rs1555536359
|
|
|
NM_001042492.3(NF1):c.7537C>T (p.Gln2513Ter)
|
rs2070170274
|
|
|
NM_001042492.3(NF1):c.755TGG[1] (p.Val253del)
|
rs1060500323
|
|
|
NM_001042492.3(NF1):c.7581del (p.Gln2528fs)
|
rs878853917
|
|
|
NM_001042492.3(NF1):c.7586del (p.Pro2529fs)
|
|
|
|
NM_001042492.3(NF1):c.7615+1del
|
rs1355691590
|
|
|
NM_001042492.3(NF1):c.7615+5G>C
|
|
|
|
NM_001042492.3(NF1):c.7616-1G>A
|
|
|
|
NM_001042492.3(NF1):c.7616-1G>C
|
|
|
|
NM_001042492.3(NF1):c.764del (p.Gly255fs)
|
|
|
|
NM_001042492.3(NF1):c.768del (p.Phe256fs)
|
rs1597659830
|
|
|
NM_001042492.3(NF1):c.7739-5_7740dup
|
|
|
|
NM_001042492.3(NF1):c.7744C>T (p.Gln2582Ter)
|
|
|
|
NM_001042492.3(NF1):c.7753del (p.Ser2585fs)
|
rs1555536685
|
|
|
NM_001042492.3(NF1):c.7787_7793del (p.Val2596fs)
|
rs2151582306
|
|
|
NM_001042492.3(NF1):c.7838dup (p.Lys2614fs)
|
rs1131691129
|
|
|
NM_001042492.3(NF1):c.7846C>T (p.Gln2616Ter)
|
rs1555536713
|
|
|
NM_001042492.3(NF1):c.787A>G (p.Lys263Glu)
|
rs1597659883
|
|
|
NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly)
|
rs1597866846
|
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
|
NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter)
|
rs1060500333
|
|
|
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs)
|
rs2070298589
|
|
|
NM_001042492.3(NF1):c.7968_7970+2del
|
rs2070299730
|
|
|
NM_001042492.3(NF1):c.7970+2T>G
|
|
|
|
NM_001042492.3(NF1):c.7970+2dup
|
rs1597867039
|
|
|
NM_001042492.3(NF1):c.7970+3A>T
|
|
|
|
NM_001042492.3(NF1):c.7970+4_7970+7del
|
rs1064794279
|
|
|
NM_001042492.3(NF1):c.7970+5G>A
|
rs1567627286
|
|
|
NM_001042492.3(NF1):c.7970+5G>C
|
rs1567627286
|
|
|
NM_001042492.3(NF1):c.7970+5G>T
|
rs1567627286
|
|
|
NM_001042492.3(NF1):c.7970+6T>C
|
rs1555536775
|
|
|
NM_001042492.3(NF1):c.7971-321C>G
|
rs2070316606
|
|
|
NM_001042492.3(NF1):c.7972C>T (p.His2658Tyr)
|
rs1555536868
|
|
|
NM_001042492.3(NF1):c.7974_7977delinsAAA (p.His2658fs)
|
|
|
|
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter)
|
rs1555608970
|
|
|
NM_001042492.3(NF1):c.8090_8093del (p.Gln2697fs)
|
|
|
|
NM_001042492.3(NF1):c.809A>C (p.Gln270Pro)
|
|
|
|
NM_001042492.3(NF1):c.8106C>A (p.Tyr2702Ter)
|
|
|
|
NM_001042492.3(NF1):c.8142del (p.Phe2714fs)
|
rs2070340004
|
|
|
NM_001042492.3(NF1):c.8159del (p.Lys2720fs)
|
rs1555537029
|
|
|
NM_001042492.3(NF1):c.8160+1G>A
|
rs1555537032
|
|
|
NM_001042492.3(NF1):c.817del (p.Leu273fs)
|
rs1555608972
|
|
|
NM_001042492.3(NF1):c.818T>G (p.Leu273Arg)
|
|
|
|
NM_001042492.3(NF1):c.819_821del (p.Leu274del)
|
rs2143786045
|
|
|
NM_001042492.3(NF1):c.8210C>A (p.Ala2737Asp)
|
rs1264511763
|
|
|
NM_001042492.3(NF1):c.821T>G (p.Leu274Arg)
|
rs2066157974
|
|
|
NM_001042492.3(NF1):c.837_838del (p.Glu279fs)
|
|
|
|
NM_001042492.3(NF1):c.853del (p.Ser285fs)
|
|
|
|
NM_001042492.3(NF1):c.862del (p.Val288fs)
|
rs1135402797
|
|
|
NM_001042492.3(NF1):c.888+1G>C
|
rs1135402799
|
|
|
NM_001042492.3(NF1):c.888+2_888+5del
|
|
|
|
NM_001042492.3(NF1):c.889-1G>A
|
rs587781517
|
|
|
NM_001042492.3(NF1):c.897del (p.Leu300fs)
|
|
|
|
NM_001042492.3(NF1):c.958G>C (p.Ala320Pro)
|
rs2066507272
|
|
|
NM_001042492.3(NF1):c.959C>A (p.Ala320Asp)
|
rs1555610884
|
|
|
NM_001042492.3(NF1):c.968C>A (p.Ala323Asp)
|
rs2066507556
|
|
|
NM_001042492.3(NF1):c.970T>C (p.Cys324Arg)
|
rs199474735
|
|
|
NM_001042492.3(NF1):c.988del (p.Ala330fs)
|
rs1555610896
|
|
|
NM_001042492.3(NF1):c.989C>T (p.Ala330Val)
|
rs1555610898
|
|
|
NM_001042492.3:c.7317AGC[1]
|
|
|
|
NM_001042702.5(PJVK):c.158C>G (p.Ser53Ter)
|
rs538027448
|
|
|
NM_001042702.5(PJVK):c.162_172del (p.Pro55fs)
|
rs1559366084
|
|
|
NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del)
|
rs1559372512
|
|
|
NM_001046.3(SLC12A2):c.2959C>T (p.Gln987Ter)
|
|
|
|
NM_001046.3(SLC12A2):c.2977+1G>A
|
|
|
|
NM_001048174.2(MUTYH):c.1149del (p.Ser384fs)
|
rs2149120608
|
|
|
NM_001077525.3(MTMR14):c.199C>T (p.Arg67Ter)
|
rs754777692
|
|
|
NM_001080414.4(CCDC88C):c.105_108del (p.Thr36fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.1420_1421del (p.Ser474fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.1637del (p.Glu546fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.1702C>T (p.Arg568Ter)
|
|
|
|
NM_001080414.4(CCDC88C):c.2206dup (p.Glu736fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.2903dup (p.Leu968fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.3013A>T (p.Lys1005Ter)
|
|
|
|
NM_001080414.4(CCDC88C):c.3166_3167insT (p.Lys1056fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.3195+1G>T
|
|
|
|
NM_001080414.4(CCDC88C):c.3310del (p.Leu1104fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.3358-2A>C
|
|
|
|
NM_001080414.4(CCDC88C):c.340+1G>T
|
|
|
|
NM_001080414.4(CCDC88C):c.3550G>T (p.Glu1184Ter)
|
|
|
|
NM_001080414.4(CCDC88C):c.3796del (p.His1266fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.4090_4093delinsATT (p.His1364fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.4096G>T (p.Glu1366Ter)
|
|
|
|
NM_001080414.4(CCDC88C):c.4113-1_4117del
|
|
|
|
NM_001080414.4(CCDC88C):c.4442-2A>G
|
|
|
|
NM_001080414.4(CCDC88C):c.4768+1G>T
|
|
|
|
NM_001080414.4(CCDC88C):c.483+1G>T
|
|
|
|
NM_001080414.4(CCDC88C):c.5101C>T (p.Arg1701Ter)
|
|
|
|
NM_001080414.4(CCDC88C):c.5132dup (p.Gln1712fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.5250C>G (p.Tyr1750Ter)
|
|
|
|
NM_001080414.4(CCDC88C):c.5273_5276del (p.Thr1758fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.5522_5525del (p.Gly1841fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.5695del (p.Leu1899fs)
|
rs1396400378
|
|
|
NM_001080414.4(CCDC88C):c.613G>T (p.Glu205Ter)
|
|
|
|
NM_001080414.4(CCDC88C):c.99_100insGGTT (p.Asn34delinsGlyTer)
|
|
|
|
NM_001080476.3(GRXCR1):c.229C>T (p.Gln77Ter)
|
rs267606855
|
|
|
NM_001080476.3(GRXCR1):c.655G>A (p.Glu219Lys)
|
rs1560690591
|
|
|
NM_001080517.3(SETD5):c.1030G>A (p.Gly344Ser)
|
rs2041376679
|
|
|
NM_001080517.3(SETD5):c.1039G>A (p.Ala347Thr)
|
|
|
|
NM_001080517.3(SETD5):c.1042C>T (p.Arg348Trp)
|
rs1553621798
|
|
|
NM_001080517.3(SETD5):c.1043G>A (p.Arg348Gln)
|
rs2125194268
|
|
|
NM_001080517.3(SETD5):c.1060T>C (p.Cys354Arg)
|
|
|
|
NM_001080517.3(SETD5):c.1441-2A>G
|
rs2041850053
|
|
|
NM_001080517.3(SETD5):c.1441_1442insCTTG (p.Glu481delinsAlaTer)
|
|
|
|
NM_001080517.3(SETD5):c.1452dup (p.Pro485fs)
|
rs1575453353
|
|
|
NM_001080517.3(SETD5):c.1459G>T (p.Glu487Ter)
|
rs369459846
|
|
|
NM_001080517.3(SETD5):c.1525-1G>C
|
rs2125271279
|
|
|
NM_001080517.3(SETD5):c.1546G>T (p.Glu516Ter)
|
|
|
|
NM_001080517.3(SETD5):c.1709_1710del (p.Ser570fs)
|
rs1575467723
|
|
|
NM_001080517.3(SETD5):c.1717_1735del (p.Asn573fs)
|
|
|
|
NM_001080517.3(SETD5):c.177+1G>A
|
|
|
|
NM_001080517.3(SETD5):c.1921del (p.Ala641fs)
|
|
|
|
NM_001080517.3(SETD5):c.1931C>G (p.Ser644Ter)
|
rs1553625881
|
|
|
NM_001080517.3(SETD5):c.2003C>G (p.Ser668Ter)
|
|
|
|
NM_001080517.3(SETD5):c.2104-1G>A
|
|
|
|
NM_001080517.3(SETD5):c.2104-1G>T
|
rs2125288295
|
|
|
NM_001080517.3(SETD5):c.2168T>A (p.Leu723Ter)
|
|
|
|
NM_001080517.3(SETD5):c.2383C>T (p.Gln795Ter)
|
|
|
|
NM_001080517.3(SETD5):c.2395dup (p.Val799fs)
|
|
|
|
NM_001080517.3(SETD5):c.2644C>T (p.Arg882Ter)
|
rs1553635637
|
|
|
NM_001080517.3(SETD5):c.3196-2A>G
|
|
|
|
NM_001080517.3(SETD5):c.3197T>G (p.Val1066Gly)
|
|
|
|
NM_001080517.3(SETD5):c.3476_3477del (p.Gln1159fs)
|
|
|
|
NM_001080517.3(SETD5):c.3631+1G>C
|
|
|
|
NM_001080517.3(SETD5):c.3631+1G>T
|
rs1553640838
|
|
|
NM_001080517.3(SETD5):c.3631G>A (p.Asp1211Asn)
|
|
|
|
NM_001080517.3(SETD5):c.3855del (p.Ser1286fs)
|
|
|
|
NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs)
|
rs1553641476
|
|
|
NM_001080517.3(SETD5):c.3856del (p.Ser1286fs)
|
rs587777329
|
|
|
NM_001080517.3(SETD5):c.3860dup (p.His1287fs)
|
|
|
|
NM_001080517.3(SETD5):c.515G>A (p.Arg172Gln)
|
|
|
|
NM_001080517.3(SETD5):c.567+1G>A
|
|
|
|
NM_001080517.3(SETD5):c.617G>A (p.Trp206Ter)
|
|
|
|
NM_001080517.3(SETD5):c.670C>T (p.Gln224Ter)
|
rs1575421295
|
|
|
NM_001080517.3(SETD5):c.740del (p.Pro247fs)
|
|
|
|
NM_001080517.3(SETD5):c.875T>C (p.Leu292Ser)
|
rs2125187544
|
|
|
NM_001080517.3(SETD5):c.891delinsAAG (p.Ile298fs)
|
rs2125187739
|
|
|
NM_001080517.3(SETD5):c.897del (p.Ile299fs)
|
rs1575427610
|
|
|
NM_001080517.3(SETD5):c.922C>T (p.Arg308Ter)
|
rs1421204500
|
|
|
NM_001080517.3(SETD5):c.941A>G (p.Asn314Ser)
|
rs2041315307
|
|
|
NM_001080517.3(SETD5):c.960-5C>G
|
rs2125193661
|
|
|
NM_001080517.3(SETD5):c.972T>G (p.Phe324Leu)
|
rs2041370929
|
|
|
NM_001080517.3(SETD5):c.988A>G (p.Lys330Glu)
|
rs1575430613
|
|
|
NM_001080517.3(SETD5):c.998_1010del (p.Gly333fs)
|
|
|
|
NM_001082486.2(ACD):c.152del (p.Thr51fs)
|
|
|
|
NM_001083603.3(PTCH1):c.179_180del (p.Lys60fs)
|
rs1447209500
|
|
|
NM_001083603.3(PTCH1):c.4del (p.Glu2fs)
|
rs752765582
|
|
|
NM_001083603.3(PTCH1):c.70_76del (p.Gly24fs)
|
|
|
|
NM_001083603.3(PTCH1):c.91del (p.Tyr31fs)
|
|
|
|
NM_001085458.2(CTNND1):c.1030C>T (p.Arg344Ter)
|
rs2062049610
|
|
|
NM_001085458.2(CTNND1):c.1687C>T (p.Gln563Ter)
|
rs2062434410
|
|
|
NM_001085458.2(CTNND1):c.2233G>T (p.Glu745Ter)
|
rs2137392998
|
|
|
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter)
|
rs1591672193
|
|
|
NM_001085458.2(CTNND1):c.506C>G (p.Ser169Ter)
|
|
|
|
NM_001089.3(ABCA3):c.440C>T (p.Pro147Leu)
|
|
|
|
NM_001099274.3(TINF2):c.1292del (p.Pro431fs)
|
rs770529422
|
|
|
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter)
|
rs1060499576
|
|
|
NM_001099274.3(TINF2):c.848C>T (p.Pro283Leu)
|
|
|
|
NM_001099274.3(TINF2):c.865C>G (p.Pro289Ala)
|
|
|
|
NM_001114183.2(GRIA1):c.1523C>A (p.Pro508Gln)
|
rs2149520942
|
|
|
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg)
|
rs1057518011
|
|
|
NM_001114748.2(TMEM240):c.419T>A (p.Leu140Gln)
|
rs2100695149
|
|
|
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
|
rs606231451
|
|
|
NM_001114753.3(ENG):c.-127C>T
|
rs1060501408
|
|
|
NM_001114753.3(ENG):c.-58G>A
|
|
|
|
NM_001114753.3(ENG):c.1039A>T (p.Lys347Ter)
|
rs1446116085
|
|
|
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs)
|
rs863223540
|
|
|
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg)
|
rs2131885848
|
|
|
NM_001114753.3(ENG):c.1087T>G (p.Cys363Gly)
|
|
|
|
NM_001114753.3(ENG):c.111del (p.Glu38fs)
|
|
|
|
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)
|
rs2131885751
|
|
|
NM_001114753.3(ENG):c.1151T>C (p.Ile384Thr)
|
rs2131879350
|
|
|
NM_001114753.3(ENG):c.1153del (p.Thr385fs)
|
rs2131879343
|
|
|
NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro)
|
rs1564453623
|
|
|
NM_001114753.3(ENG):c.1166_1168del (p.Phe389del)
|
rs1588577016
|
|
|
NM_001114753.3(ENG):c.1214T>C (p.Leu405Ser)
|
|
|
|
NM_001114753.3(ENG):c.1220G>A (p.Ser407Asn)
|
rs1554809516
|
|
|
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly)
|
rs1830432884
|
|
|
NM_001114753.3(ENG):c.1241T>G (p.Met414Arg)
|
rs1830432509
|
|
|
NM_001114753.3(ENG):c.1267A>C (p.Asn423His)
|
|
|
|
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser)
|
rs1830431553
|
|
|
NM_001114753.3(ENG):c.1273-2A>G
|
rs373842615
|
|
|
NM_001114753.3(ENG):c.1280T>G (p.Val427Gly)
|
|
|
|
NM_001114753.3(ENG):c.1309C>G (p.Arg437Gly)
|
|
|
|
NM_001114753.3(ENG):c.1310G>A (p.Arg437Gln)
|
|
|
|
NM_001114753.3(ENG):c.1311+2T>C
|
|
|
|
NM_001114753.3(ENG):c.1311+5G>A
|
rs1830423993
|
|
|
NM_001114753.3(ENG):c.1311+5G>C
|
rs1830423993
|
|
|
NM_001114753.3(ENG):c.1311G>T (p.Arg437=)
|
rs1554809448
|
|
|
NM_001114753.3(ENG):c.1312-1G>C
|
rs2131877148
|
|
|
NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter)
|
rs863223536
|
|
|
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly)
|
rs1554809363
|
|
|
NM_001114753.3(ENG):c.1381_1384del (p.Leu461fs)
|
|
|
|
NM_001114753.3(ENG):c.1427A>T (p.Gln476Leu)
|
rs1830394955
|
|
|
NM_001114753.3(ENG):c.1429-23_1429-1del
|
|
|
|
NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser)
|
rs763475207
|
|
|
NM_001114753.3(ENG):c.146T>A (p.Val49Asp)
|
|
|
|
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
|
rs1830384910
|
|
|
NM_001114753.3(ENG):c.1478G>T (p.Cys493Phe)
|
|
|
|
NM_001114753.3(ENG):c.1479C>A (p.Cys493Ter)
|
rs1197761705
|
|
|
NM_001114753.3(ENG):c.1484T>C (p.Leu495Pro)
|
rs1830384577
|
|
|
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)
|
rs1830383454
|
|
|
NM_001114753.3(ENG):c.1517T>A (p.Leu506His)
|
rs778594104
|
|
|
NM_001114753.3(ENG):c.1559T>C (p.Leu520Pro)
|
rs2131875808
|
|
|
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)
|
rs1564462765
|
|
|
NM_001114753.3(ENG):c.1586G>A (p.Arg529His)
|
rs863223538
|
|
|
NM_001114753.3(ENG):c.1645T>A (p.Cys549Ser)
|
rs1830376644
|
|
|
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)
|
rs1830376644
|
|
|
NM_001114753.3(ENG):c.1686+5G>A
|
rs1830374353
|
|
|
NM_001114753.3(ENG):c.1687-1G>A
|
rs1554809106
|
|
|
NM_001114753.3(ENG):c.1687-1G>C
|
|
|
|
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)
|
rs1830302008
|
|
|
NM_001114753.3(ENG):c.219+5G>A
|
rs1554812252
|
|
|
NM_001114753.3(ENG):c.259C>T (p.Gln87Ter)
|
rs730880096
|
|
|
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)
|
rs886039506
|
|
|
NM_001114753.3(ENG):c.293T>A (p.Val98Asp)
|
rs1830715947
|
|
|
NM_001114753.3(ENG):c.296T>A (p.Leu99His)
|
rs2131895111
|
|
|
NM_001114753.3(ENG):c.360+4A>G
|
rs1564457752
|
|
|
NM_001114753.3(ENG):c.360+5G>A
|
rs1060501417
|
|
|
NM_001114753.3(ENG):c.361-11T>A
|
|
|
|
NM_001114753.3(ENG):c.408del (p.Glu137fs)
|
rs1554810506
|
|
|
NM_001114753.3(ENG):c.503TCC[4] (p.Leu170_Arg171insLeu)
|
rs1830619692
|
|
|
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)
|
rs1588583488
|
|
|
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro)
|
rs2131889364
|
|
|
NM_001114753.3(ENG):c.581_592del (p.Leu194_Arg197del)
|
rs1554810408
|
|
|
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg)
|
rs2131889336
|
|
|
NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr)
|
rs1830599119
|
|
|
NM_001114753.3(ENG):c.620G>T (p.Cys207Phe)
|
rs1830599119
|
|
|
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)
|
rs1830597676
|
|
|
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr)
|
rs1588582695
|
|
|
NM_001114753.3(ENG):c.65_67+19del
|
|
|
|
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)
|
rs1554810378
|
|
|
NM_001114753.3(ENG):c.679_689+7del
|
|
|
|
NM_001114753.3(ENG):c.68-1G>A
|
rs878853659
|
|
|
NM_001114753.3(ENG):c.706G>A (p.Val236Met)
|
|
|
|
NM_001114753.3(ENG):c.763G>C (p.Gly255Arg)
|
|
|
|
NM_001114753.3(ENG):c.763G>T (p.Gly255Cys)
|
rs1830580925
|
|
|
NM_001114753.3(ENG):c.780_789dup (p.Asp264fs)
|
rs1588581846
|
|
|
NM_001114753.3(ENG):c.788T>G (p.Ile263Ser)
|
rs1085307431
|
|
|
NM_001114753.3(ENG):c.816+1G>A
|
rs111471193
|
|
|
NM_001114753.3(ENG):c.884C>T (p.Thr295Ile)
|
rs12042
|
|
|
NM_001114753.3(ENG):c.88T>C (p.Cys30Arg)
|
rs1564462834
|
|
|
NM_001114753.3(ENG):c.895C>G (p.Leu299Val)
|
|
|
|
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)
|
rs1830569662
|
|
|
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)
|
rs1335718486
|
|
|
NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr)
|
|
|
|
NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)
|
|
|
|
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)
|
rs1482440395
|
|
|
NM_001114753.3(ENG):c.955_956insGAAGACAA (p.Leu319fs)
|
|
|
|
NM_001114753.3(ENG):c.974T>G (p.Leu325Arg)
|
rs760001916
|
|
|
NM_001114753.3(ENG):c.987C>G (p.Ser329Arg)
|
|
|
|
NM_001114753.3(ENG):c.991+2T>A
|
|
|
|
NM_001114753.3(ENG):c.991+4A>G
|
rs2131886797
|
|
|
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)
|
rs1060501410
|
|
|
NM_001114753.3(ENG):c.992-49_1046del
|
|
|
|
NM_001122659.3(EDNRB):c.1085+1G>A
|
|
|
|
NM_001122659.3(EDNRB):c.430G>T (p.Ala144Ser)
|
|
|
|
NM_001122659.3(EDNRB):c.431C>T (p.Ala144Val)
|
|
|
|
NM_001122659.3(EDNRB):c.550T>C (p.Ser184Pro)
|
rs1555290659
|
|
|
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter)
|
rs768126403
|
|
|
NM_001122659.3(EDNRB):c.777del (p.Val260fs)
|
rs2137610942
|
|
|
NM_001122659.3(EDNRB):c.801+1G>T
|
rs2137610842
|
|
|
NM_001122659.3(EDNRB):c.801+2T>C
|
rs2137610838
|
|
|
NM_001122681.2(SH3BP2):c.1252C>A (p.Pro418Thr)
|
rs757336022
|
|
|
NM_001122681.2(SH3BP2):c.1253C>T (p.Pro418Leu)
|
rs121909146
|
|
|
NM_001122681.2(SH3BP2):c.1259G>C (p.Gly420Ala)
|
rs28938171
|
|
|
NM_001122955.4(BSCL2):c.1048C>T (p.Arg350Ter)
|
|
|
|
NM_001122955.4(BSCL2):c.1361_1386del (p.Arg454fs)
|
rs779154593
|
|
|
NM_001122955.4(BSCL2):c.512_519del (p.Arg171fs)
|
|
|
|
NM_001122955.4(BSCL2):c.766-1G>A
|
|
|
|
NM_001122955.4(BSCL2):c.825dup (p.Ala276fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs)
|
rs2058057299
|
|
|
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met)
|
rs374686479
|
|
|
NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser)
|
rs2145004155
|
|
|
NM_001127222.2(CACNA1A):c.1870A>T (p.Ile624Phe)
|
rs2145004096
|
|
|
NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del)
|
rs2144980726
|
|
|
NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu)
|
rs2144980363
|
|
|
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)
|
rs764839814
|
|
|
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.2345G>C (p.Arg782Pro)
|
rs1233611505
|
|
|
NM_001127222.2(CACNA1A):c.2524_2551del (p.Glu842fs)
|
rs2144956632
|
|
|
NM_001127222.2(CACNA1A):c.2958_2959dup (p.Arg987fs)
|
rs1555755878
|
|
|
NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu)
|
rs2144833336
|
|
|
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr)
|
rs2056767982
|
|
|
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)
|
rs2144773045
|
|
|
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)
|
rs1555745467
|
|
|
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn)
|
rs2056767062
|
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
|
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn)
|
rs1555740805
|
|
|
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)
|
rs1064795531
|
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
|
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)
|
rs1568447650
|
|
|
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)
|
rs1057519429
|
|
|
NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr)
|
rs2144647872
|
|
|
NM_001127222.2(CACNA1A):c.519C>A (p.Asp173Glu)
|
rs2144936093
|
|
|
NM_001127222.2(CACNA1A):c.5264A>G (p.Glu1755Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)
|
rs1064794261
|
|
|
NM_001127222.2(CACNA1A):c.5414_5415del (p.Phe1805fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala)
|
rs2144622461
|
|
|
NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter)
|
rs2055612253
|
|
|
NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro)
|
rs2144523407
|
|
|
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg)
|
rs1057522420
|
|
|
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)
|
rs1555773764
|
|
|
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn)
|
rs863224852
|
|
|
NM_001127453.2(GSDME):c.1183+5G>A
|
rs777359423
|
|
|
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del)
|
rs374353052
|
|
|
NM_001127453.2(GSDME):c.212-1G>A
|
rs1790597003
|
|
|
NM_001130438.3(SPTAN1):c.3388C>T (p.Gln1130Ter)
|
|
|
|
NM_001130438.3(SPTAN1):c.466C>T (p.Arg156Ter)
|
|
|
|
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala)
|
rs397509393
|
|
|
NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg)
|
rs2038416963
|
|
|
NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr)
|
rs1599341718
|
|
|
NM_001130823.3(DNMT1):c.4641G>T (p.Glu1547Asp)
|
rs2145253354
|
|
|
NM_001134407.3(GRIN2A):c.728C>T (p.Ala243Val)
|
rs2141631138
|
|
|
NM_001135638.2(PIP5K1A):c.1114C>T (p.Arg372Ter)
|
|
|
|
NM_001142571.1:c.637_1047del
|
|
|
|
NM_001142966.3(GREB1L):c.1323del (p.Gly441_Leu442insTer)
|
|
|
|
NM_001142966.3(GREB1L):c.1987_1992del
|
|
|
|
NM_001142966.3(GREB1L):c.2594T>A (p.Leu865Ter)
|
rs2145813286
|
|
|
NM_001142966.3(GREB1L):c.4576C>T (p.Arg1526Ter)
|
rs2146025908
|
|
|
NM_001142966.3(GREB1L):c.5278G>T (p.Glu1760Ter)
|
|
|
|
NM_001142966.3(GREB1L):c.768del (p.Ser257fs)
|
|
|
|
NM_001145026.2(PTPRQ):c.3G>A (p.Met1Ile)
|
rs916582229
|
|
|
NM_001145026.2(PTPRQ):c.5158_5159del (p.Ile1720fs)
|
rs1565819402
|
|
|
NM_001145026.2(PTPRQ):c.6024+2T>C
|
rs2121223982
|
|
|
NM_001145026.2(PTPRQ):c.6739-1G>A
|
rs1565855932
|
|
|
NM_001145319.2(PLS1):c.383T>C (p.Phe128Ser)
|
rs1577876794
|
|
|
NM_001145358.2(SIN3A):c.1261dup (p.Ser421fs)
|
rs2141486160
|
|
|
NM_001145358.2(SIN3A):c.1511T>A (p.Val504Asp)
|
|
|
|
NM_001145358.2(SIN3A):c.1526+1G>T
|
|
|
|
NM_001145358.2(SIN3A):c.2005C>T (p.Leu669Phe)
|
rs2073302769
|
|
|
NM_001145358.2(SIN3A):c.2006T>A (p.Leu669His)
|
rs1595897117
|
|
|
NM_001145358.2(SIN3A):c.2378T>C (p.Leu793Pro)
|
|
|
|
NM_001145358.2(SIN3A):c.240_252dup (p.His85delinsSerSerTer)
|
|
|
|
NM_001145358.2(SIN3A):c.2552_2553insC (p.Val851_Lys852insTer)
|
|
|
|
NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter)
|
rs2141424841
|
|
|
NM_001145358.2(SIN3A):c.2809_2810del (p.Lys937fs)
|
rs1555443600
|
|
|
NM_001145358.2(SIN3A):c.2844_2847del (p.Lys948fs)
|
rs1555443581
|
|
|
NM_001145358.2(SIN3A):c.2948dup (p.Arg984fs)
|
rs2141415824
|
|
|
NM_001145358.2(SIN3A):c.2955_2956del (p.Glu985fs)
|
rs886037847
|
|
|
NM_001145358.2(SIN3A):c.3045_3046dup (p.Ile1016fs)
|
rs2141396556
|
|
|
NM_001145358.2(SIN3A):c.3473dup (p.Asn1158fs)
|
rs2141368718
|
|
|
NM_001145358.2(SIN3A):c.366+5T>C
|
|
|
|
NM_001145358.2(SIN3A):c.3785_3791del (p.Tyr1262fs)
|
|
|
|
NM_001145358.2(SIN3A):c.474-1G>A
|
|
|
|
NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter)
|
rs1347764887
|
|
|
NM_001145809.2(MYH14):c.571G>A (p.Asp191Asn)
|
|
|
|
NM_001145809.2(MYH14):c.571G>C (p.Asp191His)
|
|
|
|
NM_001145809.2(MYH14):c.587G>T (p.Cys196Phe)
|
|
|
|
NM_001145809.2(MYH14):c.693+1G>A
|
|
|
|
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp)
|
rs74315437
|
|
|
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg)
|
rs786205745
|
|
|
NM_001172509.2(SATB2):c.1016del (p.Phe339fs)
|
|
|
|
NM_001172509.2(SATB2):c.1022_1029del (p.Asn341fs)
|
|
|
|
NM_001172509.2(SATB2):c.1105_1106insT (p.Arg369fs)
|
|
|
|
NM_001172509.2(SATB2):c.1126A>C (p.Ser376Arg)
|
|
|
|
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
|
|
|
|
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
|
|
|
|
NM_001172509.2(SATB2):c.1169C>T (p.Thr390Ile)
|
rs863224917
|
|
|
NM_001172509.2(SATB2):c.1172A>C (p.Gln391Pro)
|
rs2105822776
|
|
|
NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg)
|
rs1688108689
|
|
|
NM_001172509.2(SATB2):c.1195C>T (p.Arg399Cys)
|
rs1574511051
|
|
|
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)
|
rs1057518190
|
|
|
NM_001172509.2(SATB2):c.1196G>C (p.Arg399Pro)
|
rs1057518190
|
|
|
NM_001172509.2(SATB2):c.1218_1221del (p.Ala407fs)
|
rs1574510975
|
|
|
NM_001172509.2(SATB2):c.1226A>G (p.Gln409Arg)
|
|
|
|
NM_001172509.2(SATB2):c.1226_1234del (p.Gln409_Leu411del)
|
|
|
|
NM_001172509.2(SATB2):c.1244T>C (p.Leu415Pro)
|
rs2105795469
|
|
|
NM_001172509.2(SATB2):c.1298A>C (p.Tyr433Ser)
|
rs1688103993
|
|
|
NM_001172509.2(SATB2):c.1307A>T (p.Glu436Val)
|
rs1688103803
|
|
|
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys)
|
rs1223371144
|
|
|
NM_001172509.2(SATB2):c.1624dup (p.Arg542fs)
|
|
|
|
NM_001172509.2(SATB2):c.170-2A>G
|
|
|
|
NM_001172509.2(SATB2):c.1741-2A>C
|
|
|
|
NM_001172509.2(SATB2):c.1743dup (p.Leu582fs)
|
|
|
|
NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs)
|
rs1692192971
|
|
|
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu)
|
rs1553538919
|
|
|
NM_001172509.2(SATB2):c.1994A>G (p.Asn665Ser)
|
|
|
|
NM_001172509.2(SATB2):c.2000G>T (p.Arg667Leu)
|
rs1559136030
|
|
|
NM_001172509.2(SATB2):c.473+1G>A
|
|
|
|
NM_001172509.2(SATB2):c.474-2_474-1del
|
|
|
|
NM_001172509.2(SATB2):c.597+1G>A
|
rs1559016679
|
|
|
NM_001172509.2(SATB2):c.630T>G (p.Tyr210Ter)
|
rs2105850080
|
|
|
NM_001172509.2(SATB2):c.642_643dup (p.Ser215fs)
|
|
|
|
NM_001172509.2(SATB2):c.665T>C (p.Phe222Ser)
|
|
|
|
NM_001172509.2(SATB2):c.700+1G>A
|
|
|
|
NM_001172509.2(SATB2):c.700G>A (p.Val234Met)
|
|
|
|
NM_001172509.2(SATB2):c.75del (p.Pro26fs)
|
rs1574645416
|
|
|
NM_001172509.2(SATB2):c.805G>T (p.Glu269Ter)
|
|
|
|
NM_001172509.2(SATB2):c.823C>T (p.Gln275Ter)
|
rs1688736712
|
|
|
NM_001172509.2(SATB2):c.866T>G (p.Leu289Ter)
|
|
|
|
NM_001172509.2(SATB2):c.925C>T (p.Gln309Ter)
|
rs1574532452
|
|
|
NM_001172509.2(SATB2):c.955C>T (p.Gln319Ter)
|
|
|
|
NM_001172517.1(SATB2):c.-140-2A>G
|
|
|
|
NM_001174147.2(LMX1B):c.192dup (p.Asp65fs)
|
rs1057516196
|
|
|
NM_001174147.2(LMX1B):c.353G>A (p.Cys118Tyr)
|
rs121909488
|
|
|
NM_001174147.2(LMX1B):c.722del (p.Ser241fs)
|
|
|
|
NM_001174147.2(LMX1B):c.745C>G (p.Arg249Gly)
|
rs121909492
|
|
|
NM_001174147.2(LMX1B):c.755T>A (p.Leu252Gln)
|
|
|
|
NM_001174147.2(LMX1B):c.784G>A (p.Val262Met)
|
rs1588307464
|
|
|
NM_001174147.2(LMX1B):c.796T>C (p.Trp266Arg)
|
rs1588307482
|
|
|
NM_001174147.2(LMX1B):c.797G>C (p.Trp266Ser)
|
rs2030220818
|
|
|
NM_001174147.2(LMX1B):c.807C>A (p.Asn269Lys)
|
rs121909486
|
|
|
NM_001174147.2(LMX1B):c.924del (p.Tyr309fs)
|
rs1588309277
|
|
|
NM_001190274.2(FBXO11):c.1042-1G>A
|
|
|
|
NM_001190274.2(FBXO11):c.1042-1G>C
|
rs1572806589
|
|
|
NM_001190274.2(FBXO11):c.1120dup (p.Ile374fs)
|
rs1672291261
|
|
|
NM_001190274.2(FBXO11):c.1153+1G>A
|
|
|
|
NM_001190274.2(FBXO11):c.1261G>A (p.Gly421Arg)
|
rs2104808289
|
|
|
NM_001190274.2(FBXO11):c.130C>T (p.Gln44Ter)
|
|
|
|
NM_001190274.2(FBXO11):c.1367A>T (p.Asp456Val)
|
rs112661514
|
|
|
NM_001190274.2(FBXO11):c.1454A>G (p.Lys485Arg)
|
|
|
|
NM_001190274.2(FBXO11):c.1504A>C (p.Thr502Pro)
|
rs2104739162
|
|
|
NM_001190274.2(FBXO11):c.1507G>A (p.Gly503Arg)
|
|
|
|
NM_001190274.2(FBXO11):c.1517A>G (p.Tyr506Cys)
|
rs2104739095
|
|
|
NM_001190274.2(FBXO11):c.1576G>A (p.Ala526Thr)
|
rs1572785471
|
|
|
NM_001190274.2(FBXO11):c.1645G>A (p.Gly549Arg)
|
rs2104731942
|
|
|
NM_001190274.2(FBXO11):c.1648G>C (p.Gly550Arg)
|
rs1671446124
|
|
|
NM_001190274.2(FBXO11):c.1669G>A (p.Gly557Arg)
|
|
|
|
NM_001190274.2(FBXO11):c.1733C>G (p.Thr578Arg)
|
rs2104716435
|
|
|
NM_001190274.2(FBXO11):c.1781A>G (p.His594Arg)
|
rs2104716081
|
|
|
NM_001190274.2(FBXO11):c.1783G>A (p.Gly595Ser)
|
rs2104716065
|
|
|
NM_001190274.2(FBXO11):c.1830T>G (p.Asn610Lys)
|
rs775765831
|
|
|
NM_001190274.2(FBXO11):c.191_199dup (p.Pro64_Pro66dup)
|
rs977093129
|
|
|
NM_001190274.2(FBXO11):c.1920+2T>A
|
rs1572776344
|
|
|
NM_001190274.2(FBXO11):c.1949A>C (p.His650Pro)
|
rs2104702176
|
|
|
NM_001190274.2(FBXO11):c.1967A>G (p.Asn656Ser)
|
rs2104702108
|
|
|
NM_001190274.2(FBXO11):c.1993G>A (p.Gly665Arg)
|
rs1671184211
|
|
|
NM_001190274.2(FBXO11):c.2036A>G (p.Asn679Ser)
|
rs1670806923
|
|
|
NM_001190274.2(FBXO11):c.2060G>A (p.Gly687Asp)
|
rs2104663941
|
|
|
NM_001190274.2(FBXO11):c.2074T>A (p.Tyr692Asn)
|
rs2104663816
|
|
|
NM_001190274.2(FBXO11):c.2075A>T (p.Tyr692Phe)
|
rs1670805547
|
|
|
NM_001190274.2(FBXO11):c.2084-93_2084-1del
|
|
|
|
NM_001190274.2(FBXO11):c.2125A>G (p.Met709Val)
|
rs2104658407
|
|
|
NM_001190274.2(FBXO11):c.2145G>C (p.Lys715Asn)
|
rs1572764737
|
|
|
NM_001190274.2(FBXO11):c.2188G>A (p.Gly730Arg)
|
rs1572764698
|
|
|
NM_001190274.2(FBXO11):c.2224C>T (p.Arg742Ter)
|
rs2104657995
|
|
|
NM_001190274.2(FBXO11):c.2338+2T>C
|
rs1670528197
|
|
|
NM_001190274.2(FBXO11):c.2338+5G>C
|
|
|
|
NM_001190274.2(FBXO11):c.2603G>A (p.Cys868Tyr)
|
rs1670371887
|
|
|
NM_001190274.2(FBXO11):c.2666A>T (p.Asp889Val)
|
|
|
|
NM_001190274.2(FBXO11):c.2720_2721del (p.His907fs)
|
|
|
|
NM_001190274.2(FBXO11):c.2728G>T (p.Asp910Tyr)
|
|
|
|
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly)
|
rs1670355281
|
|
|
NM_001190274.2(FBXO11):c.2729A>T (p.Asp910Val)
|
rs1670355281
|
|
|
NM_001190274.2(FBXO11):c.2732C>A (p.Thr911Lys)
|
|
|
|
NM_001190274.2(FBXO11):c.2747C>T (p.Ala916Val)
|
|
|
|
NM_001190274.2(FBXO11):c.37C>T (p.Arg13Ter)
|
rs1233367010
|
|
|
NM_001190274.2(FBXO11):c.404A>G (p.Lys135Arg)
|
rs2104860667
|
|
|
NM_001190274.2(FBXO11):c.412A>G (p.Arg138Gly)
|
rs2104860646
|
|
|
NM_001190274.2(FBXO11):c.554G>A (p.Arg185His)
|
rs2104856077
|
|
|
NM_001190274.2(FBXO11):c.606A>C (p.Glu202Asp)
|
rs2104832921
|
|
|
NM_001190274.2(FBXO11):c.617A>G (p.Tyr206Cys)
|
rs1672530798
|
|
|
NM_001190274.2(FBXO11):c.657C>G (p.Tyr219Ter)
|
rs757821091
|
|
|
NM_001190274.2(FBXO11):c.792_801+5delinsT
|
|
|
|
NM_001191057.4(PDE1C):c.1900C>T (p.Gln634Ter)
|
|
|
|
NM_001191057.4(PDE1C):c.2061C>A (p.Tyr687Ter)
|
|
|
|
NM_001199107.2(TBC1D24):c.1302+1G>T
|
|
|
|
NM_001199107.2(TBC1D24):c.1303-2A>G
|
rs2141876985
|
|
|
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs)
|
rs1292551263
|
|
|
NM_001199107.2(TBC1D24):c.1499C>G (p.Ala500Gly)
|
|
|
|
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys)
|
rs1057524192
|
|
|
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser)
|
rs1489466696
|
|
|
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu)
|
rs1057519630
|
|
|
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys)
|
rs763626059
|
|
|
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln)
|
rs756181906
|
|
|
NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His)
|
rs1555501320
|
|
|
NM_001199107.2(TBC1D24):c.965+1G>T
|
|
|
|
NM_001199107.2(TBC1D24):c.983+1G>C
|
rs2141873582
|
|
|
NM_001199107.2(TBC1D24):c.983+2T>C
|
rs1596969717
|
|
|
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs)
|
rs1226171550
|
|
|
NM_001199799.2(ILDR1):c.1137del (p.Glu379fs)
|
rs2071390190
|
|
|
NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs)
|
rs1559870857
|
|
|
NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile)
|
rs387907016
|
|
|
NM_001204285.2(MUC1):c.1354-1G>A
|
|
|
|
NM_001204285.2(MUC1):c.184del (p.Ser62fs)
|
|
|
|
NM_001204285.2(MUC1):c.293_296dup (p.Ser100fs)
|
|
|
|
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)
|
rs1554389088
|
|
|
NM_001220.5(CAMK2B):c.601+1G>A
|
|
|
|
NM_001220.5(CAMK2B):c.696+1G>A
|
rs780130215
|
|
|
NM_001220.5(CAMK2B):c.863_864del (p.Val288fs)
|
|
|
|
NM_001243133.2(NLRP3):c.1712T>G (p.Leu571Trp)
|
|
|
|
NM_001243133.2(NLRP3):c.1985T>C (p.Met662Thr)
|
rs180177435
|
|
|
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His)
|
rs2103174031
|
|
|
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys)
|
rs180177452
|
|
|
NM_001244008.2(KIF1A):c.1037+1G>C
|
rs2125976529
|
|
|
NM_001244008.2(KIF1A):c.103A>G (p.Thr35Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.1049G>A (p.Arg350Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.104C>A (p.Thr35Asn)
|
rs2056551129
|
|
|
NM_001244008.2(KIF1A):c.1208-2A>C
|
|
|
|
NM_001244008.2(KIF1A):c.1217C>A (p.Ala406Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.1421+2T>A
|
rs751051049
|
|
|
NM_001244008.2(KIF1A):c.1578-2A>G
|
rs2125925871
|
|
|
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)
|
rs672601362
|
|
|
NM_001244008.2(KIF1A):c.1898G>A (p.Arg633His)
|
rs1553633823
|
|
|
NM_001244008.2(KIF1A):c.2012_2013delinsCC (p.Gln671Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.2116+1G>C
|
rs1553633687
|
|
|
NM_001244008.2(KIF1A):c.2582+1G>A
|
rs2125874950
|
|
|
NM_001244008.2(KIF1A):c.266A>T (p.Tyr89Phe)
|
|
|
|
NM_001244008.2(KIF1A):c.278_307del (p.Ile93_Gly102del)
|
|
|
|
NM_001244008.2(KIF1A):c.305G>A (p.Gly102Asp)
|
rs672601363
|
|
|
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln)
|
rs1575654528
|
|
|
NM_001244008.2(KIF1A):c.32G>T (p.Arg11Leu)
|
rs1575654528
|
|
|
NM_001244008.2(KIF1A):c.3374+2T>G
|
rs2125791006
|
|
|
NM_001244008.2(KIF1A):c.3465+1G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3750-2A>G
|
|
|
|
NM_001244008.2(KIF1A):c.377T>C (p.Leu126Pro)
|
rs2055064647
|
|
|
NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys)
|
rs1064794935
|
|
|
NM_001244008.2(KIF1A):c.3901+415C>T
|
|
|
|
NM_001244008.2(KIF1A):c.3901+498del
|
|
|
|
NM_001244008.2(KIF1A):c.40C>A (p.Pro14Thr)
|
rs2056558371
|
|
|
NM_001244008.2(KIF1A):c.40C>G (p.Pro14Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.430-2A>G
|
|
|
|
NM_001244008.2(KIF1A):c.430G>T (p.Val144Phe)
|
rs672601364
|
|
|
NM_001244008.2(KIF1A):c.4319-1G>A
|
|
|
|
NM_001244008.2(KIF1A):c.4319-2A>G
|
rs1559477798
|
|
|
NM_001244008.2(KIF1A):c.444G>T (p.Glu148Asp)
|
rs2054763570
|
|
|
NM_001244008.2(KIF1A):c.452G>A (p.Cys151Tyr)
|
rs1553638655
|
|
|
NM_001244008.2(KIF1A):c.4868+1G>C
|
rs1553624714
|
|
|
NM_001244008.2(KIF1A):c.506G>C (p.Arg169Thr)
|
rs876661168
|
|
|
NM_001244008.2(KIF1A):c.556G>T (p.Val186Phe)
|
rs2054752278
|
|
|
NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg)
|
rs1553638614
|
|
|
NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro)
|
rs672601366
|
|
|
NM_001244008.2(KIF1A):c.609-1G>A
|
rs1559527796
|
|
|
NM_001244008.2(KIF1A):c.629T>G (p.Met210Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg)
|
rs672601367
|
|
|
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His)
|
rs672601368
|
|
|
NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro)
|
rs672601368
|
|
|
NM_001244008.2(KIF1A):c.652C>T (p.His218Tyr)
|
rs2054549834
|
|
|
NM_001244008.2(KIF1A):c.745C>A (p.Leu249Met)
|
|
|
|
NM_001244008.2(KIF1A):c.746T>A (p.Leu249Gln)
|
rs672601371
|
|
|
NM_001244008.2(KIF1A):c.746T>C (p.Leu249Pro)
|
rs672601371
|
|
|
NM_001244008.2(KIF1A):c.748G>T (p.Ala250Ser)
|
rs2054374864
|
|
|
NM_001244008.2(KIF1A):c.749C>A (p.Ala250Asp)
|
rs1559526692
|
|
|
NM_001244008.2(KIF1A):c.759G>C (p.Glu253Asp)
|
rs762126771
|
|
|
NM_001244008.2(KIF1A):c.760C>G (p.Arg254Gly)
|
rs879253888
|
|
|
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)
|
rs879253888
|
|
|
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)
|
rs886041692
|
|
|
NM_001244008.2(KIF1A):c.764C>A (p.Ala255Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.773C>A (p.Thr258Lys)
|
rs1553638086
|
|
|
NM_001244008.2(KIF1A):c.799G>A (p.Glu267Lys)
|
rs1553637932
|
|
|
NM_001244008.2(KIF1A):c.79A>G (p.Ile27Val)
|
|
|
|
NM_001244008.2(KIF1A):c.79A>T (p.Ile27Phe)
|
rs2056552812
|
|
|
NM_001244008.2(KIF1A):c.802G>T (p.Gly268Trp)
|
|
|
|
NM_001244008.2(KIF1A):c.805del (p.Ala269fs)
|
|
|
|
NM_001244008.2(KIF1A):c.812T>G (p.Ile271Ser)
|
rs2126049991
|
|
|
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu)
|
rs797045655
|
|
|
NM_001244008.2(KIF1A):c.824T>A (p.Leu275Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.833T>C (p.Leu278Pro)
|
rs1131692159
|
|
|
NM_001244008.2(KIF1A):c.839A>G (p.Lys280Arg)
|
rs2054277617
|
|
|
NM_001244008.2(KIF1A):c.864+1_864+24del
|
|
|
|
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)
|
rs1131690804
|
|
|
NM_001244008.2(KIF1A):c.919C>G (p.Arg307Gly)
|
rs369692236
|
|
|
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln)
|
rs1064793161
|
|
|
NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro)
|
rs1064793161
|
|
|
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)
|
rs672601370
|
|
|
NM_001244008.2(KIF1A):c.958+1G>C
|
rs780380861
|
|
|
NM_001244008.2(KIF1A):c.967T>C (p.Ser323Pro)
|
rs2052422975
|
|
|
NM_001256012.3(MYH10):c.5175+2T>C
|
|
|
|
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg)
|
rs773780151
|
|
|
NM_001256317.3(TMPRSS3):c.323-6G>A
|
rs374793617
|
|
|
NM_001256317.3(TMPRSS3):c.783-1G>T
|
rs1237955948
|
|
|
NM_001267550.2(TTN):c.100017G>A (p.Trp33339Ter)
|
|
|
|
NM_001267550.2(TTN):c.100018_100022dup (p.Leu33341fs)
|
|
|
|
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs)
|
rs727503537
|
|
|
NM_001267550.2(TTN):c.100030del (p.Ser33344fs)
|
|
|
|
NM_001267550.2(TTN):c.100105C>T (p.Gln33369Ter)
|
rs1553503201
|
|
|
NM_001267550.2(TTN):c.100112del (p.Thr33371fs)
|
|
|
|
NM_001267550.2(TTN):c.100127_100151dup (p.Ile33385fs)
|
rs1553503113
|
|
|
NM_001267550.2(TTN):c.100135G>T (p.Glu33379Ter)
|
rs1691881913
|
|
|
NM_001267550.2(TTN):c.100161del (p.Ser33388fs)
|
|
|
|
NM_001267550.2(TTN):c.100169_100170del (p.Pro33389_Phe33390insTer)
|
|
|
|
NM_001267550.2(TTN):c.100171+1_100171+2insAAGAGTCCATTTGGAGGCAGGAAAATCGCTTCAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
|
NM_001267550.2(TTN):c.100201_100205del (p.Ile33401fs)
|
|
|
|
NM_001267550.2(TTN):c.100229_100233del (p.Val33410fs)
|
|
|
|
NM_001267550.2(TTN):c.100239G>A (p.Trp33413Ter)
|
rs1575311499
|
|
|
NM_001267550.2(TTN):c.100325del (p.Val33442fs)
|
rs1691525574
|
|
|
NM_001267550.2(TTN):c.100331del (p.Thr33444fs)
|
|
|
|
NM_001267550.2(TTN):c.100342C>T (p.Arg33448Ter)
|
|
|
|
NM_001267550.2(TTN):c.100367_100368insGA (p.Asn33456fs)
|
|
|
|
NM_001267550.2(TTN):c.100367_100368insT (p.Leu33457fs)
|
rs2154137420
|
|
|
NM_001267550.2(TTN):c.100367del (p.Asn33456fs)
|
rs2154137422
|
|
|
NM_001267550.2(TTN):c.100369del (p.Ile33458fs)
|
rs2154137417
|
|
|
NM_001267550.2(TTN):c.100372del (p.Ile33458fs)
|
|
|
|
NM_001267550.2(TTN):c.100390G>T (p.Glu33464Ter)
|
rs374920916
|
|
|
NM_001267550.2(TTN):c.100433G>A (p.Trp33478Ter)
|
|
|
|
NM_001267550.2(TTN):c.100445C>A (p.Ser33482Ter)
|
rs869312086
|
|
|
NM_001267550.2(TTN):c.100454dup (p.Thr33486fs)
|
|
|
|
NM_001267550.2(TTN):c.100558_100561del (p.Thr33520fs)
|
|
|
|
NM_001267550.2(TTN):c.100558_100561dup (p.Gly33521fs)
|
rs1553501572
|
|
|
NM_001267550.2(TTN):c.100590C>G (p.Tyr33530Ter)
|
rs1489832770
|
|
|
NM_001267550.2(TTN):c.100590_100591del (p.Tyr33530_Arg33531delinsTer)
|
|
|
|
NM_001267550.2(TTN):c.100594C>T (p.Gln33532Ter)
|
|
|
|
NM_001267550.2(TTN):c.10062del (p.Val3355fs)
|
rs1553983844
|
|
|
NM_001267550.2(TTN):c.100641dup (p.Phe33548fs)
|
rs2154137207
|
|
|
NM_001267550.2(TTN):c.100701_100702dup (p.Tyr33568fs)
|
rs2154137167
|
|
|
NM_001267550.2(TTN):c.100723C>T (p.Gln33575Ter)
|
rs2154137150
|
|
|
NM_001267550.2(TTN):c.100735del (p.Val33579fs)
|
|
|
|
NM_001267550.2(TTN):c.100766-1G>T
|
|
|
|
NM_001267550.2(TTN):c.100766-2A>T
|
rs1364779690
|
|
|
NM_001267550.2(TTN):c.100785dup (p.Pro33596fs)
|
|
|
|
NM_001267550.2(TTN):c.100791_100792insGTGTACCTAAA (p.Thr33598fs)
|
rs1691180795
|
|
|
NM_001267550.2(TTN):c.100868del (p.Pro33623fs)
|
|
|
|
NM_001267550.2(TTN):c.100883_100886dup (p.Trp33629fs)
|
|
|
|
NM_001267550.2(TTN):c.100906dup (p.Ile33636fs)
|
|
|
|
NM_001267550.2(TTN):c.100924_100940del (p.Tyr33642fs)
|
|
|
|
NM_001267550.2(TTN):c.100942_100944delinsT (p.Arg33648fs)
|
rs1559050685
|
|
|
NM_001267550.2(TTN):c.100947del (p.Phe33650fs)
|
rs1691117338
|
|
|
NM_001267550.2(TTN):c.101027del (p.Gly33676fs)
|
rs2154136770
|
|
|
NM_001267550.2(TTN):c.101035C>T (p.Gln33679Ter)
|
rs561471402
|
|
|
NM_001267550.2(TTN):c.101084del (p.Gly33695fs)
|
|
|
|
NM_001267550.2(TTN):c.101094_101097del (p.Ser33699fs)
|
rs1691030502
|
|
|
NM_001267550.2(TTN):c.101098_101099insT (p.Asp33700fs)
|
rs869312122
|
|
|
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs)
|
rs794729367
|
|
|
NM_001267550.2(TTN):c.101129G>A (p.Trp33710Ter)
|
|
|
|
NM_001267550.2(TTN):c.10114+1G>T
|
rs2154339650
|
|
|
NM_001267550.2(TTN):c.10115-1G>C
|
rs2088245783
|
|
|
NM_001267550.2(TTN):c.10115-2A>G
|
|
|
|
NM_001267550.2(TTN):c.101170del (p.Tyr33724fs)
|
|
|
|
NM_001267550.2(TTN):c.101187T>A (p.Cys33729Ter)
|
|
|
|
NM_001267550.2(TTN):c.101207G>A (p.Trp33736Ter)
|
rs2154136654
|
|
|
NM_001267550.2(TTN):c.101208G>A (p.Trp33736Ter)
|
rs1559047711
|
|
|
NM_001267550.2(TTN):c.101214_101218dup (p.Gly33740delinsValTer)
|
|
|
|
NM_001267550.2(TTN):c.10122del (p.Val3375fs)
|
|
|
|
NM_001267550.2(TTN):c.101230del (p.Glu33744fs)
|
rs1575293252
|
|
|
NM_001267550.2(TTN):c.101247dup (p.Ile33750fs)
|
|
|
|
NM_001267550.2(TTN):c.10126_10130del (p.Ser3376fs)
|
|
|
|
NM_001267550.2(TTN):c.10129del (p.Trp3377fs)
|
rs2088238871
|
|
|
NM_001267550.2(TTN):c.101309del (p.Leu33770fs)
|
|
|
|
NM_001267550.2(TTN):c.101376T>G (p.Tyr33792Ter)
|
|
|
|
NM_001267550.2(TTN):c.101440del (p.Glu33814fs)
|
rs1690880184
|
|
|
NM_001267550.2(TTN):c.10144A>T (p.Lys3382Ter)
|
|
|
|
NM_001267550.2(TTN):c.101458_101459del (p.Met33820fs)
|
|
|
|
NM_001267550.2(TTN):c.101494dup (p.Ile33832fs)
|
rs1559044465
|
|
|
NM_001267550.2(TTN):c.101533_101534insTG (p.Tyr33845fs)
|
|
|
|
NM_001267550.2(TTN):c.101552_101553del (p.Lys33851fs)
|
|
|
|
NM_001267550.2(TTN):c.101567del (p.Asp33856fs)
|
rs1690814987
|
|
|
NM_001267550.2(TTN):c.101627dup (p.Leu33876fs)
|
rs1690787769
|
|
|
NM_001267550.2(TTN):c.101642C>G (p.Ser33881Ter)
|
rs2154136345
|
|
|
NM_001267550.2(TTN):c.101665_101668del (p.Leu33888_Val33889insTer)
|
rs2154136319
|
|
|
NM_001267550.2(TTN):c.101676dup (p.Glu33893Ter)
|
|
|
|
NM_001267550.2(TTN):c.101687C>A (p.Ser33896Ter)
|
rs376813674
|
|
|
NM_001267550.2(TTN):c.101694dup (p.Asp33899Ter)
|
|
|
|
NM_001267550.2(TTN):c.101704G>T (p.Glu33902Ter)
|
|
|
|
NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter)
|
rs943777958
|
|
|
NM_001267550.2(TTN):c.101739_101740del (p.Glu33915fs)
|
|
|
|
NM_001267550.2(TTN):c.101757T>G (p.Tyr33919Ter)
|
|
|
|
NM_001267550.2(TTN):c.101789del (p.Leu33930fs)
|
rs1575285509
|
|
|
NM_001267550.2(TTN):c.101793_101794del (p.His33931fs)
|
|
|
|
NM_001267550.2(TTN):c.101817del (p.Asp33939fs)
|
|
|
|
NM_001267550.2(TTN):c.101854del (p.Ser33952fs)
|
|
|
|
NM_001267550.2(TTN):c.10186_10192delinsATCATT (p.Glu3396fs)
|
rs1553972275
|
|
|
NM_001267550.2(TTN):c.101920del (p.Leu33974fs)
|
rs1690665406
|
|
|
NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter)
|
rs1575283255
|
|
|
NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter)
|
rs534613934
|
|
|
NM_001267550.2(TTN):c.101962C>T (p.Gln33988Ter)
|
|
|
|
NM_001267550.2(TTN):c.101985dup (p.Thr33996fs)
|
|
|
|
NM_001267550.2(TTN):c.101992_101993del (p.Met33998fs)
|
|
|
|
NM_001267550.2(TTN):c.101996G>A (p.Trp33999Ter)
|
rs869312068
|
|
|
NM_001267550.2(TTN):c.102057del (p.Asn34020fs)
|
rs1690605753
|
|
|
NM_001267550.2(TTN):c.102061C>T (p.Gln34021Ter)
|
rs1060500471
|
|
|
NM_001267550.2(TTN):c.102090del (p.Glu34031fs)
|
|
|
|
NM_001267550.2(TTN):c.102156del (p.Leu34053fs)
|
|
|
|
NM_001267550.2(TTN):c.102176_102177del (p.Lys34059fs)
|
|
|
|
NM_001267550.2(TTN):c.102205C>T (p.Gln34069Ter)
|
|
|
|
NM_001267550.2(TTN):c.102234_102237del (p.Arg34079fs)
|
rs754731686
|
|
|
NM_001267550.2(TTN):c.102269_102270dup (p.Arg34091fs)
|
rs751329439
|
|
|
NM_001267550.2(TTN):c.102289del (p.Thr34096_Leu34097insTer)
|
rs2154135814
|
|
|
NM_001267550.2(TTN):c.102300del (p.Asp34101fs)
|
rs2154135804
|
|
|
NM_001267550.2(TTN):c.102309_102310insCCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGACCTCAAC (p.Met34104delinsProAsnAlaArgTer)
|
rs2154135797
|
|
|
NM_001267550.2(TTN):c.102352C>T (p.Arg34118Ter)
|
rs1212204584
|
|
|
NM_001267550.2(TTN):c.102375del (p.Ala34126fs)
|
rs2154135741
|
|
|
NM_001267550.2(TTN):c.102388_102397del (p.Val34130fs)
|
|
|
|
NM_001267550.2(TTN):c.102412del (p.Val34138fs)
|
|
|
|
NM_001267550.2(TTN):c.10241del (p.Tyr3414fs)
|
rs2154336829
|
|
|
NM_001267550.2(TTN):c.102513del (p.Phe34172fs)
|
|
|
|
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)
|
rs752697861
|
|
|
NM_001267550.2(TTN):c.102526C>T (p.Gln34176Ter)
|
|
|
|
NM_001267550.2(TTN):c.102537_102538del (p.Asn34179fs)
|
|
|
|
NM_001267550.2(TTN):c.102541G>T (p.Glu34181Ter)
|
|
|
|
NM_001267550.2(TTN):c.102549C>A (p.Tyr34183Ter)
|
|
|
|
NM_001267550.2(TTN):c.102585T>A (p.Tyr34195Ter)
|
rs1690344942
|
|
|
NM_001267550.2(TTN):c.102586del (p.Val34196fs)
|
|
|
|
NM_001267550.2(TTN):c.102630_102645dup (p.Gly34216delinsSerSerGlnTer)
|
rs2154135556
|
|
|
NM_001267550.2(TTN):c.10270C>T (p.Gln3424Ter)
|
|
|
|
NM_001267550.2(TTN):c.102718_102719del (p.Thr34240fs)
|
rs1559031280
|
|
|
NM_001267550.2(TTN):c.102744del (p.Asp34249fs)
|
rs2154135500
|
|
|
NM_001267550.2(TTN):c.102749del (p.Thr34250fs)
|
rs2154135490
|
|
|
NM_001267550.2(TTN):c.102795TAA[1] (p.Asn34266del)
|
rs886044414
|
|
|
NM_001267550.2(TTN):c.102796_102798delinsTATA (p.Asn34266fs)
|
rs1060500589
|
|
|
NM_001267550.2(TTN):c.10285_10288dup (p.Asn3430fs)
|
rs2088191243
|
|
|
NM_001267550.2(TTN):c.102872_102878del (p.Trp34291fs)
|
rs2154135366
|
|
|
NM_001267550.2(TTN):c.102916A>T (p.Lys34306Ter)
|
rs1575269011
|
|
|
NM_001267550.2(TTN):c.102932C>G (p.Ser34311Ter)
|
|
|
|
NM_001267550.2(TTN):c.102937_102940dup (p.Gly34314fs)
|
rs2154135311
|
|
|
NM_001267550.2(TTN):c.102953T>G (p.Leu34318Ter)
|
|
|
|
NM_001267550.2(TTN):c.103021G>T (p.Glu34341Ter)
|
|
|
|
NM_001267550.2(TTN):c.103043_103044insA (p.Thr34349fs)
|
rs1690115787
|
|
|
NM_001267550.2(TTN):c.103048_103058del (p.Val34350fs)
|
|
|
|
NM_001267550.2(TTN):c.103061del (p.Pro34354fs)
|
rs1690111134
|
|
|
NM_001267550.2(TTN):c.103073_103076dup (p.Ser34359delinsArgTer)
|
rs2154135223
|
|
|
NM_001267550.2(TTN):c.103103T>G (p.Leu34368Ter)
|
|
|
|
NM_001267550.2(TTN):c.103123C>T (p.Gln34375Ter)
|
|
|
|
NM_001267550.2(TTN):c.103155_103156del (p.Arg34385fs)
|
rs1575265345
|
|
|
NM_001267550.2(TTN):c.103172dup (p.Pro34392fs)
|
|
|
|
NM_001267550.2(TTN):c.103181_103190del (p.Thr34393_Leu34394insTer)
|
|
|
|
NM_001267550.2(TTN):c.103188G>A (p.Trp34396Ter)
|
|
|
|
NM_001267550.2(TTN):c.103189del (p.Glu34397fs)
|
rs2154135131
|
|
|
NM_001267550.2(TTN):c.103305_103306del (p.Arg34435fs)
|
|
|
|
NM_001267550.2(TTN):c.103317_103320del (p.Asn34440fs)
|
|
|
|
NM_001267550.2(TTN):c.103336del (p.Ser34446fs)
|
rs1553491793
|
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
|
NM_001267550.2(TTN):c.103374C>A (p.Tyr34458Ter)
|
rs1060500505
|
|
|
NM_001267550.2(TTN):c.103411C>T (p.Arg34471Ter)
|
|
|
|
NM_001267550.2(TTN):c.103420C>T (p.Gln34474Ter)
|
|
|
|
NM_001267550.2(TTN):c.103453G>T (p.Glu34485Ter)
|
rs1575259969
|
|
|
NM_001267550.2(TTN):c.103459_103460del (p.Leu34487fs)
|
rs1689940049
|
|
|
NM_001267550.2(TTN):c.103489C>T (p.Gln34497Ter)
|
|
|
|
NM_001267550.2(TTN):c.1034G>A (p.Trp345Ter)
|
rs1574929972
|
|
|
NM_001267550.2(TTN):c.103518del (p.Ala34507fs)
|
rs1553491220
|
|
|
NM_001267550.2(TTN):c.103530T>A (p.Tyr34510Ter)
|
|
|
|
NM_001267550.2(TTN):c.103560del (p.Glu34522fs)
|
|
|
|
NM_001267550.2(TTN):c.103580_103583dup (p.Glu34528fs)
|
|
|
|
NM_001267550.2(TTN):c.103611del (p.Met34538fs)
|
|
|
|
NM_001267550.2(TTN):c.103620T>G (p.Tyr34540Ter)
|
|
|
|
NM_001267550.2(TTN):c.103638dup (p.Lys34547fs)
|
|
|
|
NM_001267550.2(TTN):c.103644T>G (p.Tyr34548Ter)
|
|
|
|
NM_001267550.2(TTN):c.103651dup (p.Thr34551fs)
|
|
|
|
NM_001267550.2(TTN):c.103678A>T (p.Lys34560Ter)
|
|
|
|
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter)
|
rs1553490574
|
|
|
NM_001267550.2(TTN):c.103710G>A (p.Trp34570Ter)
|
|
|
|
NM_001267550.2(TTN):c.103726_103727insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGATACGTG (p.Asp34576delinsGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysLysAspThrTer)
|
|
|
|
NM_001267550.2(TTN):c.103758_103759del (p.Arg34586fs)
|
rs1689777278
|
|
|
NM_001267550.2(TTN):c.103765C>T (p.Gln34589Ter)
|
rs749082693
|
|
|
NM_001267550.2(TTN):c.103800G>A (p.Trp34600Ter)
|
|
|
|
NM_001267550.2(TTN):c.103804C>T (p.Gln34602Ter)
|
|
|
|
NM_001267550.2(TTN):c.103814dup (p.Met34606fs)
|
|
|
|
NM_001267550.2(TTN):c.103839_103848dup (p.Pro34617fs)
|
|
|
|
NM_001267550.2(TTN):c.103840C>T (p.Gln34614Ter)
|
|
|
|
NM_001267550.2(TTN):c.103845C>G (p.Tyr34615Ter)
|
rs2154134580
|
|
|
NM_001267550.2(TTN):c.103846_103849dup (p.Pro34617fs)
|
rs2154134575
|
|
|
NM_001267550.2(TTN):c.103899_103903dup (p.Ala34635fs)
|
|
|
|
NM_001267550.2(TTN):c.103938_103939del (p.Phe34646fs)
|
rs1689704657
|
|
|
NM_001267550.2(TTN):c.103943del (p.Tyr34648fs)
|
rs1689700102
|
|
|
NM_001267550.2(TTN):c.103945_103946insTAGAA (p.Arg34649fs)
|
|
|
|
NM_001267550.2(TTN):c.1039C>T (p.Gln347Ter)
|
rs1561470471
|
|
|
NM_001267550.2(TTN):c.104012T>G (p.Leu34671Ter)
|
|
|
|
NM_001267550.2(TTN):c.104030_104031del (p.Glu34677fs)
|
|
|
|
NM_001267550.2(TTN):c.104069del (p.Gly34690fs)
|
rs2154134397
|
|
|
NM_001267550.2(TTN):c.104081C>G (p.Ser34694Ter)
|
rs886043279
|
|
|
NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs)
|
rs1689596670
|
|
|
NM_001267550.2(TTN):c.104170_104174del (p.Lys34724fs)
|
rs2154134297
|
|
|
NM_001267550.2(TTN):c.104171_104172del (p.Lys34724fs)
|
rs2154134302
|
|
|
NM_001267550.2(TTN):c.104242G>T (p.Glu34748Ter)
|
|
|
|
NM_001267550.2(TTN):c.104266A>T (p.Arg34756Ter)
|
|
|
|
NM_001267550.2(TTN):c.104302_104303del (p.Arg34768fs)
|
|
|
|
NM_001267550.2(TTN):c.104381C>G (p.Ser34794Ter)
|
|
|
|
NM_001267550.2(TTN):c.104408C>G (p.Ser34803Ter)
|
|
|
|
NM_001267550.2(TTN):c.104421_104425del (p.Arg34807fs)
|
rs1689427568
|
|
|
NM_001267550.2(TTN):c.104457C>A (p.Tyr34819Ter)
|
|
|
|
NM_001267550.2(TTN):c.104484_104487dup (p.Ser34830fs)
|
|
|
|
NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter)
|
rs1553488049
|
|
|
NM_001267550.2(TTN):c.104609del (p.Asp34870fs)
|
|
|
|
NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter)
|
rs1057518003
|
|
|
NM_001267550.2(TTN):c.104666_104667del (p.Pro34889fs)
|
rs1689304332
|
|
|
NM_001267550.2(TTN):c.104668dup (p.Val34890fs)
|
rs2154133906
|
|
|
NM_001267550.2(TTN):c.104699_104726delinsT (p.Glu34900_Ser34909delinsVal)
|
rs1689265228
|
|
|
NM_001267550.2(TTN):c.104771C>A (p.Ser34924Ter)
|
rs1559003939
|
|
|
NM_001267550.2(TTN):c.104779A>T (p.Lys34927Ter)
|
|
|
|
NM_001267550.2(TTN):c.104861_104876del (p.Pro34954fs)
|
rs1402952523
|
|
|
NM_001267550.2(TTN):c.104941G>T (p.Glu34981Ter)
|
|
|
|
NM_001267550.2(TTN):c.104953del (p.Ser34985fs)
|
rs2154133695
|
|
|
NM_001267550.2(TTN):c.104974_104995dup (p.Leu34999fs)
|
rs2154133662
|
|
|
NM_001267550.2(TTN):c.105161del (p.Pro35054fs)
|
|
|
|
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs)
|
rs770878165
|
|
|
NM_001267550.2(TTN):c.105233_105234del (p.Ser35078fs)
|
|
|
|
NM_001267550.2(TTN):c.105241del (p.Glu35081fs)
|
|
|
|
NM_001267550.2(TTN):c.105251C>G (p.Ser35084Ter)
|
|
|
|
NM_001267550.2(TTN):c.105288del (p.Ser35095_Tyr35096insTer)
|
|
|
|
NM_001267550.2(TTN):c.105422dup (p.Tyr35141Ter)
|
rs1558995457
|
|
|
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)
|
rs534484592
|
|
|
NM_001267550.2(TTN):c.105428del (p.Gly35143fs)
|
rs886042825
|
|
|
NM_001267550.2(TTN):c.105474_105477del (p.Pro35158_Thr35159insTer)
|
|
|
|
NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter)
|
rs886042795
|
|
|
NM_001267550.2(TTN):c.105486G>A (p.Trp35162Ter)
|
|
|
|
NM_001267550.2(TTN):c.105605_105606del (p.Val35202fs)
|
rs886043462
|
|
|
NM_001267550.2(TTN):c.105614del (p.Asn35205fs)
|
rs2154133153
|
|
|
NM_001267550.2(TTN):c.105655C>T (p.Gln35219Ter)
|
|
|
|
NM_001267550.2(TTN):c.105703A>T (p.Lys35235Ter)
|
|
|
|
NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs)
|
|
|
|
NM_001267550.2(TTN):c.105791dup (p.Ser35265fs)
|
rs1688794902
|
|
|
NM_001267550.2(TTN):c.105810dup (p.Pro35271fs)
|
rs1553484602
|
|
|
NM_001267550.2(TTN):c.105898del (p.Ile35300fs)
|
|
|
|
NM_001267550.2(TTN):c.105957G>A (p.Trp35319Ter)
|
rs1575219172
|
|
|
NM_001267550.2(TTN):c.105997_105998del (p.Gln35333fs)
|
|
|
|
NM_001267550.2(TTN):c.106009_106010del (p.Ala35338fs)
|
|
|
|
NM_001267550.2(TTN):c.106015del (p.Asp35339fs)
|
rs1558988204
|
|
|
NM_001267550.2(TTN):c.106019del (p.Gly35340fs)
|
rs727504482
|
|
|
NM_001267550.2(TTN):c.106049del (p.Thr35350fs)
|
rs1250336644
|
|
|
NM_001267550.2(TTN):c.106117C>T (p.Gln35373Ter)
|
rs778126842
|
|
|
NM_001267550.2(TTN):c.106157dup (p.Ser35387fs)
|
|
|
|
NM_001267550.2(TTN):c.106181_106185del (p.Lys35394fs)
|
|
|
|
NM_001267550.2(TTN):c.106189C>T (p.Gln35397Ter)
|
|
|
|
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs)
|
|
|
|
NM_001267550.2(TTN):c.106259del (p.Pro35420fs)
|
rs1688559718
|
|
|
NM_001267550.2(TTN):c.106374+1del
|
rs763404256
|
|
|
NM_001267550.2(TTN):c.106374G>A (p.Lys35458=)
|
rs2154132585
|
|
|
NM_001267550.2(TTN):c.106422dup (p.Phe35475fs)
|
|
|
|
NM_001267550.2(TTN):c.106475_106476insGG (p.Cys35492fs)
|
|
|
|
NM_001267550.2(TTN):c.106487dup (p.Asn35496fs)
|
rs2154132395
|
|
|
NM_001267550.2(TTN):c.106531G>C (p.Ala35511Pro)
|
|
|
|
NM_001267550.2(TTN):c.106531G>T (p.Ala35511Ser)
|
|
|
|
NM_001267550.2(TTN):c.106567_106574del (p.Gln35523fs)
|
|
|
|
NM_001267550.2(TTN):c.106740del (p.Ala35581fs)
|
rs2154131505
|
|
|
NM_001267550.2(TTN):c.106768dup (p.His35590fs)
|
rs1687796533
|
|
|
NM_001267550.2(TTN):c.106773_106780del (p.Glu35591fs)
|
|
|
|
NM_001267550.2(TTN):c.106828A>T (p.Lys35610Ter)
|
rs753984036
|
|
|
NM_001267550.2(TTN):c.106864C>T (p.Gln35622Ter)
|
|
|
|
NM_001267550.2(TTN):c.106928_106932del (p.Val35643fs)
|
|
|
|
NM_001267550.2(TTN):c.106943_106944del (p.Asn35647_Ser35648insTer)
|
|
|
|
NM_001267550.2(TTN):c.106978C>T (p.Gln35660Ter)
|
|
|
|
NM_001267550.2(TTN):c.106996C>T (p.Gln35666Ter)
|
rs750660824
|
|
|
NM_001267550.2(TTN):c.1069del (p.Ala357fs)
|
rs2154356210
|
|
|
NM_001267550.2(TTN):c.107006del (p.His35669fs)
|
|
|
|
NM_001267550.2(TTN):c.107033dup (p.Ser35679fs)
|
rs2154131263
|
|
|
NM_001267550.2(TTN):c.107065_107068del (p.Gln35689fs)
|
rs2154131227
|
|
|
NM_001267550.2(TTN):c.107117C>G (p.Ser35706Ter)
|
|
|
|
NM_001267550.2(TTN):c.107153dup (p.Asn35718fs)
|
|
|
|
NM_001267550.2(TTN):c.107202_107203del (p.Trp35735fs)
|
rs1575189496
|
|
|
NM_001267550.2(TTN):c.107204G>A (p.Trp35735Ter)
|
|
|
|
NM_001267550.2(TTN):c.107223+1G>A
|
rs876658102
|
|
|
NM_001267550.2(TTN):c.107223+2T>C
|
|
|
|
NM_001267550.2(TTN):c.107224-1G>C
|
rs112720067
|
|
|
NM_001267550.2(TTN):c.107224-2A>G
|
rs111401822
|
|
|
NM_001267550.2(TTN):c.107271C>A (p.Tyr35757Ter)
|
|
|
|
NM_001267550.2(TTN):c.107312dup (p.Tyr35772fs)
|
rs2154130897
|
|
|
NM_001267550.2(TTN):c.107322del (p.Lys35775fs)
|
rs2154130886
|
|
|
NM_001267550.2(TTN):c.107343_107346del (p.Gln35782fs)
|
|
|
|
NM_001267550.2(TTN):c.107351C>A (p.Ser35784Ter)
|
rs1575185742
|
|
|
NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter)
|
rs1575185742
|
|
|
NM_001267550.2(TTN):c.107377+1G>C
|
rs112188483
|
|
|
NM_001267550.2(TTN):c.107460_107463dup (p.Gln35822fs)
|
rs886042246
|
|
|
NM_001267550.2(TTN):c.107597del (p.Met35866fs)
|
|
|
|
NM_001267550.2(TTN):c.107617G>T (p.Gly35873Ter)
|
|
|
|
NM_001267550.2(TTN):c.107644del (p.Ser35882fs)
|
rs1179955071
|
|
|
NM_001267550.2(TTN):c.107680+1G>A
|
|
|
|
NM_001267550.2(TTN):c.107789G>A (p.Trp35930Ter)
|
rs1278698690
|
|
|
NM_001267550.2(TTN):c.107800G>T (p.Gly35934Ter)
|
rs368277535
|
|
|
NM_001267550.2(TTN):c.107814_107815del (p.His35938fs)
|
|
|
|
NM_001267550.2(TTN):c.107818C>T (p.Gln35940Ter)
|
|
|
|
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)
|
rs281864928
|
|
|
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr)
|
rs281864928
|
|
|
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)
|
rs267607156
|
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
|
NM_001267550.2(TTN):c.107957T>C (p.Ile35986Thr)
|
rs1060500541
|
|
|
NM_001267550.2(TTN):c.10819G>T (p.Glu3607Ter)
|
|
|
|
NM_001267550.2(TTN):c.10998del (p.Gln3667fs)
|
|
|
|
NM_001267550.2(TTN):c.10C>T (p.Gln4Ter)
|
|
|
|
NM_001267550.2(TTN):c.11040_11041del (p.Val3682fs)
|
|
|
|
NM_001267550.2(TTN):c.11288_11289del (p.Gln3763fs)
|
rs1574322133
|
|
|
NM_001267550.2(TTN):c.1128G>A (p.Trp376Ter)
|
rs932770906
|
|
|
NM_001267550.2(TTN):c.11310del (p.Glu3771fs)
|
rs2086020099
|
|
|
NM_001267550.2(TTN):c.11311+1G>A
|
|
|
|
NM_001267550.2(TTN):c.11311+1G>T
|
rs1553963537
|
|
|
NM_001267550.2(TTN):c.11312-4027del
|
|
|
|
NM_001267550.2(TTN):c.11317del (p.Ser3773fs)
|
|
|
|
NM_001267550.2(TTN):c.11412del (p.Pro3805fs)
|
rs2082534727
|
|
|
NM_001267550.2(TTN):c.11421_11422delinsGT (p.Tyr3807_Pro3808delinsTer)
|
|
|
|
NM_001267550.2(TTN):c.11444del (p.Lys3815fs)
|
rs1574099951
|
|
|
NM_001267550.2(TTN):c.11495del (p.Ser3832fs)
|
|
|
|
NM_001267550.2(TTN):c.11558G>A (p.Trp3853Ter)
|
|
|
|
NM_001267550.2(TTN):c.11637del (p.Leu3880fs)
|
rs1560926034
|
|
|
NM_001267550.2(TTN):c.11658_11674dup (p.Cys3892fs)
|
|
|
|
NM_001267550.2(TTN):c.11662G>T (p.Gly3888Ter)
|
|
|
|
NM_001267550.2(TTN):c.11709T>A (p.Cys3903Ter)
|
rs2082478614
|
|
|
NM_001267550.2(TTN):c.11754del (p.Asp3918fs)
|
rs2154318864
|
|
|
NM_001267550.2(TTN):c.11831T>A (p.Leu3944Ter)
|
|
|
|
NM_001267550.2(TTN):c.11851C>T (p.Gln3951Ter)
|
|
|
|
NM_001267550.2(TTN):c.11871dup (p.Glu3958Ter)
|
rs2082452692
|
|
|
NM_001267550.2(TTN):c.11880dup (p.Val3961fs)
|
|
|
|
NM_001267550.2(TTN):c.11912G>A (p.Trp3971Ter)
|
rs869312102
|
|
|
NM_001267550.2(TTN):c.11913G>A (p.Trp3971Ter)
|
rs749961489
|
|
|
NM_001267550.2(TTN):c.1206del (p.Ser403fs)
|
|
|
|
NM_001267550.2(TTN):c.12117del (p.Cys4040fs)
|
rs1560918374
|
|
|
NM_001267550.2(TTN):c.12172A>T (p.Lys4058Ter)
|
|
|
|
NM_001267550.2(TTN):c.12218_12222dup (p.Val4075fs)
|
|
|
|
NM_001267550.2(TTN):c.12239del (p.Ile4079_Leu4080insTer)
|
rs2082383767
|
|
|
NM_001267550.2(TTN):c.12251T>G (p.Leu4084Ter)
|
|
|
|
NM_001267550.2(TTN):c.12259G>T (p.Glu4087Ter)
|
rs2154318496
|
|
|
NM_001267550.2(TTN):c.12289del (p.Ile4097fs)
|
|
|
|
NM_001267550.2(TTN):c.12316C>T (p.Gln4106Ter)
|
rs1553940122
|
|
|
NM_001267550.2(TTN):c.12321del (p.Pro4108fs)
|
|
|
|
NM_001267550.2(TTN):c.12345del (p.Gln4115fs)
|
|
|
|
NM_001267550.2(TTN):c.12358C>T (p.Gln4120Ter)
|
rs746184552
|
|
|
NM_001267550.2(TTN):c.12394del (p.Leu4132fs)
|
|
|
|
NM_001267550.2(TTN):c.12397_12505dup (p.Pro4169fs)
|
rs1553939638
|
|
|
NM_001267550.2(TTN):c.12405del (p.Asn4135fs)
|
rs727503658
|
|
|
NM_001267550.2(TTN):c.12428_12429del (p.Leu4143fs)
|
|
|
|
NM_001267550.2(TTN):c.12433G>T (p.Glu4145Ter)
|
|
|
|
NM_001267550.2(TTN):c.12451C>T (p.Gln4151Ter)
|
|
|
|
NM_001267550.2(TTN):c.1246-2A>G
|
rs2154355995
|
|
|
NM_001267550.2(TTN):c.12472C>T (p.Gln4158Ter)
|
rs745720217
|
|
|
NM_001267550.2(TTN):c.12478del (p.Thr4160fs)
|
rs2154318358
|
|
|
NM_001267550.2(TTN):c.12482del (p.Phe4161fs)
|
|
|
|
NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs)
|
rs1553939605
|
|
|
NM_001267550.2(TTN):c.1252C>T (p.Gln418Ter)
|
|
|
|
NM_001267550.2(TTN):c.12583_12586del (p.Asn4195fs)
|
rs2082328931
|
|
|
NM_001267550.2(TTN):c.12612_12625del (p.Thr4204_Leu4205insTer)
|
rs1574081963
|
|
|
NM_001267550.2(TTN):c.12617T>G (p.Leu4206Ter)
|
|
|
|
NM_001267550.2(TTN):c.12643_12644del (p.Gln4215fs)
|
rs869312038
|
|
|
NM_001267550.2(TTN):c.12704C>A (p.Ser4235Ter)
|
rs1253161767
|
|
|
NM_001267550.2(TTN):c.12742C>T (p.Gln4248Ter)
|
rs794729308
|
|
|
NM_001267550.2(TTN):c.12744_12745del (p.Arg4249fs)
|
rs2154318180
|
|
|
NM_001267550.2(TTN):c.12754_12755del (p.Leu4252fs)
|
|
|
|
NM_001267550.2(TTN):c.12793C>T (p.Gln4265Ter)
|
|
|
|
NM_001267550.2(TTN):c.12850C>T (p.Gln4284Ter)
|
rs2082282118
|
|
|
NM_001267550.2(TTN):c.12869del (p.Leu4290fs)
|
|
|
|
NM_001267550.2(TTN):c.12887C>A (p.Ser4296Ter)
|
|
|
|
NM_001267550.2(TTN):c.12891C>A (p.Cys4297Ter)
|
|
|
|
NM_001267550.2(TTN):c.12897dup (p.Gly4300fs)
|
rs2082273335
|
|
|
NM_001267550.2(TTN):c.12943_12950dup (p.Asp4317fs)
|
|
|
|
NM_001267550.2(TTN):c.12946C>T (p.Gln4316Ter)
|
|
|
|
NM_001267550.2(TTN):c.1296del (p.Val433fs)
|
rs2093669726
|
|
|
NM_001267550.2(TTN):c.12970G>T (p.Glu4324Ter)
|
|
|
|
NM_001267550.2(TTN):c.13028_13032del (p.Glu4343fs)
|
|
|
|
NM_001267550.2(TTN):c.13058del (p.Pro4353fs)
|
rs1408345511
|
|
|
NM_001267550.2(TTN):c.13072G>T (p.Glu4358Ter)
|
rs757979946
|
|
|
NM_001267550.2(TTN):c.13083del (p.Glu4362fs)
|
rs2154317986
|
|
|
NM_001267550.2(TTN):c.13085_13086del (p.Glu4362fs)
|
rs2154317985
|
|
|
NM_001267550.2(TTN):c.13102_13105del (p.Lys4368fs)
|
rs1553937967
|
|
|
NM_001267550.2(TTN):c.13115_13118dup (p.Gln4373fs)
|
|
|
|
NM_001267550.2(TTN):c.13115del (p.Val4372fs)
|
rs2154317965
|
|
|
NM_001267550.2(TTN):c.13117C>T (p.Gln4373Ter)
|
rs1064793411
|
|
|
NM_001267550.2(TTN):c.13127dup (p.Asp4376fs)
|
rs2082227467
|
|
|
NM_001267550.2(TTN):c.13144dup (p.Ser4382fs)
|
rs1560902834
|
|
|
NM_001267550.2(TTN):c.13157del (p.Gly4386fs)
|
|
|
|
NM_001267550.2(TTN):c.13174A>T (p.Arg4392Ter)
|
|
|
|
NM_001267550.2(TTN):c.13201del (p.Arg4401fs)
|
|
|
|
NM_001267550.2(TTN):c.13210C>T (p.Gln4404Ter)
|
|
|
|
NM_001267550.2(TTN):c.13224del (p.Ser4409fs)
|
|
|
|
NM_001267550.2(TTN):c.13329C>G (p.Tyr4443Ter)
|
|
|
|
NM_001267550.2(TTN):c.13335del (p.Thr4446fs)
|
|
|
|
NM_001267550.2(TTN):c.13340C>A (p.Ser4447Ter)
|
|
|
|
NM_001267550.2(TTN):c.13382_13383del (p.Asp4461fs)
|
|
|
|
NM_001267550.2(TTN):c.13397del (p.Met4466fs)
|
|
|
|
NM_001267550.2(TTN):c.13408A>T (p.Lys4470Ter)
|
rs903809826
|
|
|
NM_001267550.2(TTN):c.13423del (p.Asp4475fs)
|
|
|
|
NM_001267550.2(TTN):c.13446T>A (p.Tyr4482Ter)
|
|
|
|
NM_001267550.2(TTN):c.13446T>G (p.Tyr4482Ter)
|
|
|
|
NM_001267550.2(TTN):c.13450G>T (p.Glu4484Ter)
|
|
|
|
NM_001267550.2(TTN):c.13450del (p.Glu4484fs)
|
rs2082158844
|
|
|
NM_001267550.2(TTN):c.13525del (p.Ser4509fs)
|
rs1553936898
|
|
|
NM_001267550.2(TTN):c.13540C>T (p.Gln4514Ter)
|
|
|
|
NM_001267550.2(TTN):c.13621C>T (p.Gln4541Ter)
|
rs2154317658
|
|
|
NM_001267550.2(TTN):c.13720G>T (p.Glu4574Ter)
|
rs2154317609
|
|
|
NM_001267550.2(TTN):c.13729G>T (p.Glu4577Ter)
|
|
|
|
NM_001267550.2(TTN):c.13732G>T (p.Glu4578Ter)
|
|
|
|
NM_001267550.2(TTN):c.13759_13772delinsTTCTTTGTTATTTTTAAACCAAGTAACCTGGATCACAGGTGAGCCTTTCAGCTTGCAATGGAGGCGTGCTGATTCACCTGGGAGCATTAAATAAGAGGGATCCACCTTCTTCACGAAGGATGGTGGCTCTACATGAAGTTTACAAA (p.Glu4587_Val4591delinsPhePheValIlePheLysProSerAsnLeuAspHisArgTer)
|
|
|
|
NM_001267550.2(TTN):c.13807del (p.Glu4603fs)
|
rs1574066113
|
|
|
NM_001267550.2(TTN):c.13817_13818dup (p.Met4607fs)
|
|
|
|
NM_001267550.2(TTN):c.1381C>T (p.Gln461Ter)
|
|
|
|
NM_001267550.2(TTN):c.13838_13839del (p.Val4613fs)
|
rs2154317516
|
|
|
NM_001267550.2(TTN):c.13898_13899del (p.Lys4633fs)
|
rs2154317474
|
|
|
NM_001267550.2(TTN):c.13900G>T (p.Glu4634Ter)
|
rs869312103
|
|
|
NM_001267550.2(TTN):c.13911G>A (p.Trp4637Ter)
|
|
|
|
NM_001267550.2(TTN):c.13914T>A (p.Tyr4638Ter)
|
rs794729388
|
|
|
NM_001267550.2(TTN):c.13937C>G (p.Ser4646Ter)
|
|
|
|
NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter)
|
rs1313233245
|
|
|
NM_001267550.2(TTN):c.13943_13947dup (p.Phe4650fs)
|
rs767038068
|
|
|
NM_001267550.2(TTN):c.13949del (p.Phe4650fs)
|
|
|
|
NM_001267550.2(TTN):c.13966C>T (p.Gln4656Ter)
|
rs747289468
|
|
|
NM_001267550.2(TTN):c.1396C>T (p.Gln466Ter)
|
|
|
|
NM_001267550.2(TTN):c.1398+1G>A
|
|
|
|
NM_001267550.2(TTN):c.14056del (p.Thr4686fs)
|
rs869312104
|
|
|
NM_001267550.2(TTN):c.14089dup (p.Arg4697fs)
|
|
|
|
NM_001267550.2(TTN):c.14092+1G>A
|
|
|
|
NM_001267550.2(TTN):c.14092+1G>T
|
|
|
|
NM_001267550.2(TTN):c.14170C>T (p.Gln4724Ter)
|
|
|
|
NM_001267550.2(TTN):c.1417A>T (p.Lys473Ter)
|
rs2154355442
|
|
|
NM_001267550.2(TTN):c.14198G>A (p.Trp4733Ter)
|
rs1574050861
|
|
|
NM_001267550.2(TTN):c.14212C>T (p.Arg4738Ter)
|
|
|
|
NM_001267550.2(TTN):c.14245C>T (p.Arg4749Ter)
|
rs1553934752
|
|
|
NM_001267550.2(TTN):c.14287del (p.Gln4763fs)
|
rs1560880125
|
|
|
NM_001267550.2(TTN):c.14301C>A (p.Cys4767Ter)
|
|
|
|
NM_001267550.2(TTN):c.14308_14315del (p.Tyr4770fs)
|
|
|
|
NM_001267550.2(TTN):c.14310T>A (p.Tyr4770Ter)
|
|
|
|
NM_001267550.2(TTN):c.14314dup (p.Cys4772fs)
|
|
|
|
NM_001267550.2(TTN):c.14337_14341dup (p.Val4781fs)
|
rs2154316604
|
|
|
NM_001267550.2(TTN):c.14367_14368insT (p.Thr4790fs)
|
|
|
|
NM_001267550.2(TTN):c.14452dup (p.Val4818fs)
|
rs2154314529
|
|
|
NM_001267550.2(TTN):c.14476del (p.Thr4826fs)
|
rs1220176907
|
|
|
NM_001267550.2(TTN):c.14484G>A (p.Trp4828Ter)
|
|
|
|
NM_001267550.2(TTN):c.14513_14517del (p.Pro4837_Ser4838insTer)
|
rs2154314476
|
|
|
NM_001267550.2(TTN):c.14676del (p.Glu4893fs)
|
|
|
|
NM_001267550.2(TTN):c.1470del (p.Glu490fs)
|
rs2093617332
|
|
|
NM_001267550.2(TTN):c.15085C>T (p.Arg5029Ter)
|
|
|
|
NM_001267550.2(TTN):c.1513C>T (p.Gln505Ter)
|
rs794729257
|
|
|
NM_001267550.2(TTN):c.15177_15181delinsAGTACT (p.Asp5059fs)
|
|
|
|
NM_001267550.2(TTN):c.15218-2A>G
|
rs1004898711
|
|
|
NM_001267550.2(TTN):c.1523dup (p.Thr509fs)
|
|
|
|
NM_001267550.2(TTN):c.15260del (p.Val5087fs)
|
|
|
|
NM_001267550.2(TTN):c.15324G>A (p.Trp5108Ter)
|
rs755339616
|
|
|
NM_001267550.2(TTN):c.1536+1G>A
|
rs2093614668
|
|
|
NM_001267550.2(TTN):c.1536+1G>T
|
|
|
|
NM_001267550.2(TTN):c.1545_1549del (p.Lys515fs)
|
|
|
|
NM_001267550.2(TTN):c.15496+1G>T
|
rs397517481
|
|
|
NM_001267550.2(TTN):c.15496G>T (p.Glu5166Ter)
|
|
|
|
NM_001267550.2(TTN):c.15497-2A>G
|
rs1232334931
|
|
|
NM_001267550.2(TTN):c.1551_1552del (p.Glu518fs)
|
rs2154354703
|
|
|
NM_001267550.2(TTN):c.15527del (p.Asp5176fs)
|
|
|
|
NM_001267550.2(TTN):c.1555A>T (p.Lys519Ter)
|
|
|
|
NM_001267550.2(TTN):c.15562C>T (p.Gln5188Ter)
|
|
|
|
NM_001267550.2(TTN):c.15576del (p.Ser5194fs)
|
rs1578202642
|
|
|
NM_001267550.2(TTN):c.15615_15622del (p.Gln5205fs)
|
|
|
|
NM_001267550.2(TTN):c.15775+1G>A
|
rs1353528319
|
|
|
NM_001267550.2(TTN):c.15921C>A (p.Tyr5307Ter)
|
|
|
|
NM_001267550.2(TTN):c.16012G>T (p.Glu5338Ter)
|
|
|
|
NM_001267550.2(TTN):c.1603C>T (p.Gln535Ter)
|
|
|
|
NM_001267550.2(TTN):c.16048del (p.Val5350fs)
|
|
|
|
NM_001267550.2(TTN):c.16057C>T (p.Arg5353Ter)
|
rs267599069
|
|
|
NM_001267550.2(TTN):c.16077del (p.Phe5359fs)
|
rs2080842093
|
|
|
NM_001267550.2(TTN):c.16244_16248delinsCTGTCT (p.Glu5415fs)
|
rs2080810704
|
|
|
NM_001267550.2(TTN):c.16356del (p.Phe5452fs)
|
|
|
|
NM_001267550.2(TTN):c.16508T>A (p.Leu5503Ter)
|
rs2154310403
|
|
|
NM_001267550.2(TTN):c.16508T>G (p.Leu5503Ter)
|
|
|
|
NM_001267550.2(TTN):c.1662+2T>G
|
rs2154354670
|
|
|
NM_001267550.2(TTN):c.16713del (p.Pro5572fs)
|
|
|
|
NM_001267550.2(TTN):c.16848_16849del (p.Cys5616_Glu5617delinsTer)
|
rs2154309910
|
|
|
NM_001267550.2(TTN):c.16903+2T>C
|
rs1060500574
|
|
|
NM_001267550.2(TTN):c.16904-1G>A
|
|
|
|
NM_001267550.2(TTN):c.16939G>T (p.Glu5647Ter)
|
|
|
|
NM_001267550.2(TTN):c.17032_17033del (p.Arg5678fs)
|
|
|
|
NM_001267550.2(TTN):c.17182+1G>A
|
|
|
|
NM_001267550.2(TTN):c.17281del (p.Thr5760_Val5761insTer)
|
rs1392541002
|
|
|
NM_001267550.2(TTN):c.17461+1G>A
|
|
|
|
NM_001267550.2(TTN):c.17461+1G>C
|
rs747990127
|
|
|
NM_001267550.2(TTN):c.17482G>T (p.Glu5828Ter)
|
|
|
|
NM_001267550.2(TTN):c.17506dup (p.Gln5836fs)
|
|
|
|
NM_001267550.2(TTN):c.1758_1763delinsT (p.Glu586fs)
|
rs794729311
|
|
|
NM_001267550.2(TTN):c.1759_1763del (p.Thr587fs)
|
rs1024367270
|
|
|
NM_001267550.2(TTN):c.17604del (p.Lys5868fs)
|
|
|
|
NM_001267550.2(TTN):c.17612_17613insAAAAATATAAAAT (p.Ile5871_Ser5872insLysIleTer)
|
|
|
|
NM_001267550.2(TTN):c.17697dup (p.Asp5900Ter)
|
|
|
|
NM_001267550.2(TTN):c.17741-1G>A
|
rs2154308493
|
|
|
NM_001267550.2(TTN):c.17750dup (p.Pro5918fs)
|
|
|
|
NM_001267550.2(TTN):c.17823del (p.Ile5941fs)
|
rs2154308403
|
|
|
NM_001267550.2(TTN):c.1784_1785del (p.His595fs)
|
|
|
|
NM_001267550.2(TTN):c.17967C>G (p.Tyr5989Ter)
|
rs2154308240
|
|
|
NM_001267550.2(TTN):c.1801-2A>G
|
|
|
|
NM_001267550.2(TTN):c.18028+1G>A
|
rs1560786548
|
|
|
NM_001267550.2(TTN):c.18028+2T>C
|
rs1553922787
|
|
|
NM_001267550.2(TTN):c.18088C>T (p.Gln6030Ter)
|
|
|
|
NM_001267550.2(TTN):c.18307+2T>C
|
rs2154307882
|
|
|
NM_001267550.2(TTN):c.18344T>G (p.Leu6115Ter)
|
|
|
|
NM_001267550.2(TTN):c.18406C>T (p.Arg6136Ter)
|
rs2154307591
|
|
|
NM_001267550.2(TTN):c.18417G>A (p.Trp6139Ter)
|
|
|
|
NM_001267550.2(TTN):c.18541C>T (p.Arg6181Ter)
|
|
|
|
NM_001267550.2(TTN):c.18589+1G>T
|
|
|
|
NM_001267550.2(TTN):c.18709_18710del (p.Arg6237fs)
|
|
|
|
NM_001267550.2(TTN):c.18718C>T (p.Arg6240Ter)
|
|
|
|
NM_001267550.2(TTN):c.18732del (p.Lys6244fs)
|
|
|
|
NM_001267550.2(TTN):c.18767del (p.Leu6256fs)
|
|
|
|
NM_001267550.2(TTN):c.18791C>G (p.Ser6264Ter)
|
rs2079975361
|
|
|
NM_001267550.2(TTN):c.18813C>A (p.Cys6271Ter)
|
|
|
|
NM_001267550.2(TTN):c.18989del (p.Gln6330fs)
|
|
|
|
NM_001267550.2(TTN):c.19086del (p.Arg6361_Tyr6362insTer)
|
|
|
|
NM_001267550.2(TTN):c.19180del (p.Val6394fs)
|
rs1560763939
|
|
|
NM_001267550.2(TTN):c.19229del (p.Gly6410fs)
|
rs2079812566
|
|
|
NM_001267550.2(TTN):c.19237G>T (p.Glu6413Ter)
|
|
|
|
NM_001267550.2(TTN):c.19254G>A (p.Trp6418Ter)
|
rs2154306627
|
|
|
NM_001267550.2(TTN):c.19272_19275del (p.Ile6425fs)
|
|
|
|
NM_001267550.2(TTN):c.19306G>T (p.Glu6436Ter)
|
rs267599063
|
|
|
NM_001267550.2(TTN):c.19365del (p.Gln6454_Tyr6455insTer)
|
|
|
|
NM_001267550.2(TTN):c.1938+1G>T
|
rs774414270
|
|
|
NM_001267550.2(TTN):c.19426+2T>A
|
rs727505178
|
|
|
NM_001267550.2(TTN):c.19458dup (p.Leu6487fs)
|
rs2079736561
|
|
|
NM_001267550.2(TTN):c.19581C>A (p.Tyr6527Ter)
|
rs746828415
|
|
|
NM_001267550.2(TTN):c.19601_19602del (p.Arg6534fs)
|
rs1064796380
|
|
|
NM_001267550.2(TTN):c.19605del (p.Val6536fs)
|
rs2079698337
|
|
|
NM_001267550.2(TTN):c.1961del (p.Thr654fs)
|
rs2154353364
|
|
|
NM_001267550.2(TTN):c.19691dup (p.Cys6564fs)
|
|
|
|
NM_001267550.2(TTN):c.19709_19710del (p.Val6570fs)
|
|
|
|
NM_001267550.2(TTN):c.19714+1G>T
|
rs1060500423
|
|
|
NM_001267550.2(TTN):c.1972_1975del (p.Ser657_Thr658insTer)
|
|
|
|
NM_001267550.2(TTN):c.19744C>T (p.Arg6582Ter)
|
rs794727829
|
|
|
NM_001267550.2(TTN):c.20008del (p.Phe6669_Val6670insTer)
|
|
|
|
NM_001267550.2(TTN):c.20276-1G>C
|
rs2154304651
|
|
|
NM_001267550.2(TTN):c.20324del (p.Asn6775fs)
|
rs1578084690
|
|
|
NM_001267550.2(TTN):c.20382G>A (p.Trp6794Ter)
|
|
|
|
NM_001267550.2(TTN):c.20392A>T (p.Lys6798Ter)
|
rs2154304590
|
|
|
NM_001267550.2(TTN):c.20402_20405del (p.Leu6801fs)
|
|
|
|
NM_001267550.2(TTN):c.20438del (p.Asn6813fs)
|
rs2154304574
|
|
|
NM_001267550.2(TTN):c.20441_20448del (p.Asn6813_Phe6814insTer)
|
rs2154304568
|
|
|
NM_001267550.2(TTN):c.20622del (p.Ala6875fs)
|
rs2079200580
|
|
|
NM_001267550.2(TTN):c.20667del (p.Glu6890fs)
|
|
|
|
NM_001267550.2(TTN):c.20719del (p.Glu6907fs)
|
|
|
|
NM_001267550.2(TTN):c.20738del (p.Gln6913fs)
|
rs2154304293
|
|
|
NM_001267550.2(TTN):c.20836+1G>T
|
|
|
|
NM_001267550.2(TTN):c.20836+2T>C
|
rs776932740
|
|
|
NM_001267550.2(TTN):c.20837-1G>A
|
rs1553914337
|
|
|
NM_001267550.2(TTN):c.2086G>T (p.Gly696Ter)
|
|
|
|
NM_001267550.2(TTN):c.209del (p.Val70fs)
|
rs2094105154
|
|
|
NM_001267550.2(TTN):c.21004del (p.Ile7002fs)
|
|
|
|
NM_001267550.2(TTN):c.21006del (p.Ser7003fs)
|
|
|
|
NM_001267550.2(TTN):c.21014T>G (p.Leu7005Ter)
|
|
|
|
NM_001267550.2(TTN):c.21220del (p.Ser7074fs)
|
rs2078907250
|
|
|
NM_001267550.2(TTN):c.21313del (p.Ser7105fs)
|
|
|
|
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter)
|
rs727505277
|
|
|
NM_001267550.2(TTN):c.21403+2T>G
|
|
|
|
NM_001267550.2(TTN):c.21404-1G>C
|
|
|
|
NM_001267550.2(TTN):c.21507del (p.Trp7170fs)
|
rs1578046154
|
|
|
NM_001267550.2(TTN):c.21683-2A>G
|
|
|
|
NM_001267550.2(TTN):c.21698del (p.Phe7232_Leu7233insTer)
|
|
|
|
NM_001267550.2(TTN):c.21785del (p.Thr7262fs)
|
|
|
|
NM_001267550.2(TTN):c.21788G>A (p.Trp7263Ter)
|
|
|
|
NM_001267550.2(TTN):c.21833_21834del (p.Ile7278fs)
|
rs2154302656
|
|
|
NM_001267550.2(TTN):c.21912del (p.Ile7304fs)
|
rs2078700148
|
|
|
NM_001267550.2(TTN):c.21941del (p.Gly7314fs)
|
|
|
|
NM_001267550.2(TTN):c.21961+1G>C
|
rs2078690809
|
|
|
NM_001267550.2(TTN):c.21961G>T (p.Glu7321Ter)
|
|
|
|
NM_001267550.2(TTN):c.22034_22037del (p.Gln7345fs)
|
|
|
|
NM_001267550.2(TTN):c.22068G>A (p.Trp7356Ter)
|
|
|
|
NM_001267550.2(TTN):c.22240+1G>A
|
rs2078612090
|
|
|
NM_001267550.2(TTN):c.2224del (p.Ser742fs)
|
rs2093148818
|
|
|
NM_001267550.2(TTN):c.22273_22276del (p.Leu7425fs)
|
rs1553910811
|
|
|
NM_001267550.2(TTN):c.22293_22303del (p.Val7432fs)
|
rs1560692247
|
|
|
NM_001267550.2(TTN):c.22309dup (p.Thr7437fs)
|
rs2154302053
|
|
|
NM_001267550.2(TTN):c.22321C>T (p.Arg7441Ter)
|
|
|
|
NM_001267550.2(TTN):c.22356G>A (p.Trp7452Ter)
|
rs2078556781
|
|
|
NM_001267550.2(TTN):c.22427T>A (p.Leu7476Ter)
|
|
|
|
NM_001267550.2(TTN):c.22475C>G (p.Ser7492Ter)
|
|
|
|
NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro)
|
rs1560689563
|
|
|
NM_001267550.2(TTN):c.22528G>T (p.Glu7510Ter)
|
|
|
|
NM_001267550.2(TTN):c.22624C>T (p.Gln7542Ter)
|
|
|
|
NM_001267550.2(TTN):c.22724_22725dup (p.Lys7576fs)
|
rs2154301477
|
|
|
NM_001267550.2(TTN):c.22745_22746del (p.Ser7582fs)
|
rs779549899
|
|
|
NM_001267550.2(TTN):c.22789_22790del (p.Met7597fs)
|
rs1211248610
|
|
|
NM_001267550.2(TTN):c.22870G>T (p.Glu7624Ter)
|
|
|
|
NM_001267550.2(TTN):c.22907del (p.Pro7636fs)
|
rs2078291953
|
|
|
NM_001267550.2(TTN):c.229C>T (p.Arg77Ter)
|
|
|
|
NM_001267550.2(TTN):c.23098+1G>T
|
rs2154300949
|
|
|
NM_001267550.2(TTN):c.23099-2A>G
|
rs2154300788
|
|
|
NM_001267550.2(TTN):c.23273dup (p.Ser7758fs)
|
rs2154300674
|
|
|
NM_001267550.2(TTN):c.23369dup (p.Phe7791fs)
|
|
|
|
NM_001267550.2(TTN):c.23377+2T>C
|
rs2154300619
|
|
|
NM_001267550.2(TTN):c.23399dup (p.Leu7801fs)
|
|
|
|
NM_001267550.2(TTN):c.23605C>T (p.Gln7869Ter)
|
|
|
|
NM_001267550.2(TTN):c.23608dup (p.Ile7870fs)
|
rs2154300414
|
|
|
NM_001267550.2(TTN):c.2371-2A>G
|
|
|
|
NM_001267550.2(TTN):c.2371-6A>G
|
|
|
|
NM_001267550.2(TTN):c.23811del (p.Thr7938fs)
|
|
|
|
NM_001267550.2(TTN):c.23939-1G>T
|
|
|
|
NM_001267550.2(TTN):c.2393_2394del (p.Thr798fs)
|
rs1060500528
|
|
|
NM_001267550.2(TTN):c.23998del (p.Ala8000fs)
|
rs2154300048
|
|
|
NM_001267550.2(TTN):c.24019C>T (p.Arg8007Ter)
|
rs794727941
|
|
|
NM_001267550.2(TTN):c.24075del (p.Ile8025fs)
|
rs2154300014
|
|
|
NM_001267550.2(TTN):c.24084del (p.Lys8030fs)
|
|
|
|
NM_001267550.2(TTN):c.24221_24222del (p.Val8074fs)
|
|
|
|
NM_001267550.2(TTN):c.24226+1G>T
|
|
|
|
NM_001267550.2(TTN):c.24226+2_24226+14del
|
|
|
|
NM_001267550.2(TTN):c.24227-2A>G
|
|
|
|
NM_001267550.2(TTN):c.24244C>T (p.Gln8082Ter)
|
|
|
|
NM_001267550.2(TTN):c.24385G>T (p.Glu8129Ter)
|
rs727504843
|
|
|
NM_001267550.2(TTN):c.24447_24450del (p.Cys8150fs)
|
rs2077885583
|
|
|
NM_001267550.2(TTN):c.24611G>A (p.Trp8204Ter)
|
|
|
|
NM_001267550.2(TTN):c.24635C>A (p.Ser8212Ter)
|
|
|
|
NM_001267550.2(TTN):c.24697del (p.Ser8233fs)
|
|
|
|
NM_001267550.2(TTN):c.24811G>T (p.Glu8271Ter)
|
|
|
|
NM_001267550.2(TTN):c.24865G>T (p.Gly8289Ter)
|
rs1577954678
|
|
|
NM_001267550.2(TTN):c.24890G>A (p.Trp8297Ter)
|
rs2154299355
|
|
|
NM_001267550.2(TTN):c.24913C>T (p.Arg8305Ter)
|
|
|
|
NM_001267550.2(TTN):c.24946_24947delinsT (p.Asn8316fs)
|
rs1577952992
|
|
|
NM_001267550.2(TTN):c.25064-1G>A
|
|
|
|
NM_001267550.2(TTN):c.25064-2A>G
|
|
|
|
NM_001267550.2(TTN):c.25117_25118del (p.Leu8373fs)
|
rs2077711392
|
|
|
NM_001267550.2(TTN):c.25219C>T (p.Gln8407Ter)
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|
|
|
NM_001267550.2(TTN):c.25270C>T (p.Gln8424Ter)
|
|
|
|
NM_001267550.2(TTN):c.25296C>A (p.Cys8432Ter)
|
|
|
|
NM_001267550.2(TTN):c.2557C>T (p.Gln853Ter)
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|
|
|
NM_001267550.2(TTN):c.25639+2T>C
|
rs769452066
|
|
|
NM_001267550.2(TTN):c.25640-2A>G
|
|
|
|
NM_001267550.2(TTN):c.25735del (p.Ile8579fs)
|
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|
|
NM_001267550.2(TTN):c.25739_25740del (p.Lys8580fs)
|
|
|
|
NM_001267550.2(TTN):c.2573C>A (p.Ser858Ter)
|
rs772294126
|
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|
NM_001267550.2(TTN):c.25765G>T (p.Glu8589Ter)
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|
|
|
NM_001267550.2(TTN):c.25922-1G>C
|
rs2154297723
|
|
|
NM_001267550.2(TTN):c.25970del (p.Gly8657fs)
|
rs2154297689
|
|
|
NM_001267550.2(TTN):c.2601dup (p.Glu868Ter)
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|
NM_001267550.2(TTN):c.26028G>A (p.Trp8676Ter)
|
rs794729389
|
|
|
NM_001267550.2(TTN):c.26028del (p.Trp8676fs)
|
rs758533436
|
|
|
NM_001267550.2(TTN):c.26067C>G (p.Tyr8689Ter)
|
rs377125716
|
|
|
NM_001267550.2(TTN):c.26118_26119del (p.Ala8707fs)
|
rs2077273106
|
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|
NM_001267550.2(TTN):c.2612dup (p.Arg872fs)
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|
|
NM_001267550.2(TTN):c.26240del (p.Thr8747fs)
|
rs1553896398
|
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|
NM_001267550.2(TTN):c.2628del (p.Leu878fs)
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|
|
NM_001267550.2(TTN):c.2640_2656del (p.Gln880fs)
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|
NM_001267550.2(TTN):c.26482+1G>A
|
rs1440418037
|
|
|
NM_001267550.2(TTN):c.26574_26581dup (p.Thr8861fs)
|
rs2077097661
|
|
|
NM_001267550.2(TTN):c.26629A>T (p.Lys8877Ter)
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|
|
|
NM_001267550.2(TTN):c.2663_2669delinsCTTCAC (p.Asp888fs)
|
rs2093000714
|
|
|
NM_001267550.2(TTN):c.26798_26799del (p.Lys8933fs)
|
rs2076941998
|
|
|
NM_001267550.2(TTN):c.26800G>T (p.Glu8934Ter)
|
|
|
|
NM_001267550.2(TTN):c.26905_26906del (p.Gly8969fs)
|
rs2154296494
|
|
|
NM_001267550.2(TTN):c.26926del (p.Thr8975_Leu8976insTer)
|
rs2154296486
|
|
|
NM_001267550.2(TTN):c.26952del (p.Thr8984_Val8985insTer)
|
|
|
|
NM_001267550.2(TTN):c.27022G>T (p.Glu9008Ter)
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|
|
|
NM_001267550.2(TTN):c.27168del (p.Ser9056fs)
|
rs2076867354
|
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|
NM_001267550.2(TTN):c.27224_27228del (p.Glu9075fs)
|
rs1553892376
|
|
|
NM_001267550.2(TTN):c.27306T>A (p.Cys9102Ter)
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|
|
|
NM_001267550.2(TTN):c.27328+1G>T
|
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|
NM_001267550.2(TTN):c.27329-1del
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|
NM_001267550.2(TTN):c.2737G>T (p.Glu913Ter)
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|
|
NM_001267550.2(TTN):c.27466C>T (p.Gln9156Ter)
|
rs2076800953
|
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NM_001267550.2(TTN):c.27495dup (p.Ser9166fs)
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|
|
|
NM_001267550.2(TTN):c.27546C>G (p.Tyr9182Ter)
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|
NM_001267550.2(TTN):c.27608-19_27612del
|
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|
NM_001267550.2(TTN):c.27700del (p.Ile9234fs)
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|
|
NM_001267550.2(TTN):c.27713G>A (p.Trp9238Ter)
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|
|
NM_001267550.2(TTN):c.27714G>A (p.Trp9238Ter)
|
|
|
|
NM_001267550.2(TTN):c.2775+1G>T
|
rs1057346353
|
|
|
NM_001267550.2(TTN):c.27765del (p.Phe9255fs)
|
|
|
|
NM_001267550.2(TTN):c.27886+1G>T
|
rs2076721233
|
|
|
NM_001267550.2(TTN):c.27976G>T (p.Gly9326Ter)
|
|
|
|
NM_001267550.2(TTN):c.28049C>A (p.Ser9350Ter)
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|
|
NM_001267550.2(TTN):c.2812del (p.Ile938fs)
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|
|
|
NM_001267550.2(TTN):c.28133del (p.Pro9378fs)
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|
|
NM_001267550.2(TTN):c.28183_28423dup (p.Val9475delinsGluProThrLeuLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.28312C>T (p.Arg9438Ter)
|
|
|
|
NM_001267550.2(TTN):c.28379del (p.Asp9460fs)
|
|
|
|
NM_001267550.2(TTN):c.2841+1G>C
|
rs2154350493
|
|
|
NM_001267550.2(TTN):c.28462+1G>T
|
rs2076520917
|
|
|
NM_001267550.2(TTN):c.28469_28488del (p.Leu9490fs)
|
|
|
|
NM_001267550.2(TTN):c.28499C>G (p.Ser9500Ter)
|
rs2154294487
|
|
|
NM_001267550.2(TTN):c.28524del (p.Asn9509fs)
|
rs1489175898
|
|
|
NM_001267550.2(TTN):c.2868del (p.Gly957fs)
|
rs794729355
|
|
|
NM_001267550.2(TTN):c.28753+1G>A
|
|
|
|
NM_001267550.2(TTN):c.2879_2891del (p.Val960fs)
|
|
|
|
NM_001267550.2(TTN):c.28900_28901del (p.Asp9634fs)
|
|
|
|
NM_001267550.2(TTN):c.28908C>A (p.Cys9636Ter)
|
rs1553883443
|
|
|
NM_001267550.2(TTN):c.28909_28922del (p.Cys9636_Ser9637insTer)
|
|
|
|
NM_001267550.2(TTN):c.28993del (p.Ser9665fs)
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|
|
|
NM_001267550.2(TTN):c.29024C>A (p.Ser9675Ter)
|
rs886042115
|
|
|
NM_001267550.2(TTN):c.29041+1G>C
|
|
|
|
NM_001267550.2(TTN):c.29042-2del
|
rs2075975847
|
|
|
NM_001267550.2(TTN):c.29070dup (p.Lys9691fs)
|
|
|
|
NM_001267550.2(TTN):c.2907C>A (p.Tyr969Ter)
|
|
|
|
NM_001267550.2(TTN):c.29099_29100del (p.Phe9700fs)
|
|
|
|
NM_001267550.2(TTN):c.2909del (p.Pro970fs)
|
|
|
|
NM_001267550.2(TTN):c.29100dup (p.Val9701fs)
|
rs796065340
|
|
|
NM_001267550.2(TTN):c.29113C>T (p.Gln9705Ter)
|
|
|
|
NM_001267550.2(TTN):c.29193G>A (p.Trp9731Ter)
|
|
|
|
NM_001267550.2(TTN):c.29212_29218del (p.Gln9738fs)
|
rs2154292470
|
|
|
NM_001267550.2(TTN):c.29240_29241del (p.Ile9747fs)
|
|
|
|
NM_001267550.2(TTN):c.29308C>T (p.Arg9770Ter)
|
|
|
|
NM_001267550.2(TTN):c.2931C>G (p.Tyr977Ter)
|
|
|
|
NM_001267550.2(TTN):c.29334del (p.Glu9779fs)
|
|
|
|
NM_001267550.2(TTN):c.2941_2942insC (p.Tyr981fs)
|
rs2154350090
|
|
|
NM_001267550.2(TTN):c.29437_29440del (p.Lys9813fs)
|
|
|
|
NM_001267550.2(TTN):c.2943C>A (p.Tyr981Ter)
|
|
|
|
NM_001267550.2(TTN):c.29440G>T (p.Gly9814Ter)
|
|
|
|
NM_001267550.2(TTN):c.29446G>T (p.Gly9816Ter)
|
|
|
|
NM_001267550.2(TTN):c.29542C>T (p.Arg9848Ter)
|
|
|
|
NM_001267550.2(TTN):c.29599A>T (p.Arg9867Ter)
|
|
|
|
NM_001267550.2(TTN):c.29695-1G>T
|
|
|
|
NM_001267550.2(TTN):c.2980_2995del (p.Gln994fs)
|
|
|
|
NM_001267550.2(TTN):c.29863C>T (p.Arg9955Ter)
|
|
|
|
NM_001267550.2(TTN):c.29914C>T (p.Arg9972Ter)
|
|
|
|
NM_001267550.2(TTN):c.3007dup (p.Arg1003fs)
|
rs1574771625
|
|
|
NM_001267550.2(TTN):c.30091dup (p.Gln10031fs)
|
rs1553877628
|
|
|
NM_001267550.2(TTN):c.30151C>T (p.Arg10051Ter)
|
|
|
|
NM_001267550.2(TTN):c.30223+1G>T
|
|
|
|
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter)
|
rs397517547
|
|
|
NM_001267550.2(TTN):c.30356_30359del (p.Glu10119fs)
|
rs2154290001
|
|
|
NM_001267550.2(TTN):c.30358_30359del (p.Ser10120fs)
|
rs2154290001
|
|
|
NM_001267550.2(TTN):c.30433+2T>G
|
rs1060500504
|
|
|
NM_001267550.2(TTN):c.30434-2A>G
|
|
|
|
NM_001267550.2(TTN):c.30476del (p.Ala10159fs)
|
rs2154289805
|
|
|
NM_001267550.2(TTN):c.3050dup (p.Val1018fs)
|
|
|
|
NM_001267550.2(TTN):c.30519del (p.Lys10173fs)
|
|
|
|
NM_001267550.2(TTN):c.30598+1G>C
|
rs2075001826
|
|
|
NM_001267550.2(TTN):c.30598+1G>T
|
|
|
|
NM_001267550.2(TTN):c.30598G>T (p.Glu10200Ter)
|
|
|
|
NM_001267550.2(TTN):c.30599-1G>A
|
rs1338491963
|
|
|
NM_001267550.2(TTN):c.30682+1G>T
|
|
|
|
NM_001267550.2(TTN):c.30683-1G>A
|
|
|
|
NM_001267550.2(TTN):c.30754+1G>T
|
rs914288774
|
|
|
NM_001267550.2(TTN):c.30754+2T>C
|
|
|
|
NM_001267550.2(TTN):c.30889G>T (p.Glu10297Ter)
|
|
|
|
NM_001267550.2(TTN):c.30963T>A (p.Tyr10321Ter)
|
rs1167073084
|
|
|
NM_001267550.2(TTN):c.30967G>T (p.Glu10323Ter)
|
rs1425322355
|
|
|
NM_001267550.2(TTN):c.30989_30990del (p.Thr10330fs)
|
rs2073652081
|
|
|
NM_001267550.2(TTN):c.30992_30993del (p.Glu10331fs)
|
|
|
|
NM_001267550.2(TTN):c.30_33del (p.Gln10fs)
|
|
|
|
NM_001267550.2(TTN):c.3100+1G>A
|
|
|
|
NM_001267550.2(TTN):c.3101-1G>A
|
rs2092877322
|
|
|
NM_001267550.2(TTN):c.3101-2A>T
|
rs1060500467
|
|
|
NM_001267550.2(TTN):c.31164C>A (p.Tyr10388Ter)
|
rs794727040
|
|
|
NM_001267550.2(TTN):c.31203T>G (p.Tyr10401Ter)
|
|
|
|
NM_001267550.2(TTN):c.31207+2T>C
|
|
|
|
NM_001267550.2(TTN):c.31303_31304del (p.Lys10435fs)
|
|
|
|
NM_001267550.2(TTN):c.31402C>T (p.Gln10468Ter)
|
|
|
|
NM_001267550.2(TTN):c.31479del (p.Phe10493fs)
|
|
|
|
NM_001267550.2(TTN):c.31513+1G>A
|
rs1553860401
|
|
|
NM_001267550.2(TTN):c.31519_31523dup (p.Gln10509fs)
|
rs2154281189
|
|
|
NM_001267550.2(TTN):c.31656dup (p.Val10553fs)
|
|
|
|
NM_001267550.2(TTN):c.31669_31670del (p.Ala10557fs)
|
|
|
|
NM_001267550.2(TTN):c.31679-1G>A
|
|
|
|
NM_001267550.2(TTN):c.31718del (p.Lys10573fs)
|
rs2154280109
|
|
|
NM_001267550.2(TTN):c.31735A>T (p.Lys10579Ter)
|
|
|
|
NM_001267550.2(TTN):c.31762+1G>T
|
|
|
|
NM_001267550.2(TTN):c.31838del (p.Pro10613fs)
|
|
|
|
NM_001267550.2(TTN):c.31846+2_31846+8del
|
|
|
|
NM_001267550.2(TTN):c.31852del (p.Glu10618fs)
|
|
|
|
NM_001267550.2(TTN):c.31927+1G>T
|
rs1553852989
|
|
|
NM_001267550.2(TTN):c.32012-1G>T
|
rs2154278075
|
|
|
NM_001267550.2(TTN):c.32012-2A>T
|
|
|
|
NM_001267550.2(TTN):c.32090_32095+21del
|
|
|
|
NM_001267550.2(TTN):c.32092C>T (p.Arg10698Ter)
|
rs1396898734
|
|
|
NM_001267550.2(TTN):c.32096-1G>T
|
|
|
|
NM_001267550.2(TTN):c.32096-4_32117del
|
rs1560398348
|
|
|
NM_001267550.2(TTN):c.32135_32136dup (p.Val10713fs)
|
|
|
|
NM_001267550.2(TTN):c.3217C>T (p.Gln1073Ter)
|
|
|
|
NM_001267550.2(TTN):c.32296del (p.Val10766fs)
|
|
|
|
NM_001267550.2(TTN):c.32311+1G>T
|
rs1577433734
|
|
|
NM_001267550.2(TTN):c.32332del (p.Tyr10778fs)
|
rs2070642658
|
|
|
NM_001267550.2(TTN):c.32446dup (p.Ile10816fs)
|
rs2154275355
|
|
|
NM_001267550.2(TTN):c.32470+1G>T
|
|
|
|
NM_001267550.2(TTN):c.32470+2T>C
|
|
|
|
NM_001267550.2(TTN):c.32554+1G>A
|
rs376018437
|
|
|
NM_001267550.2(TTN):c.32554+1G>C
|
rs376018437
|
|
|
NM_001267550.2(TTN):c.32554+1G>T
|
rs376018437
|
|
|
NM_001267550.2(TTN):c.32630del (p.Pro10877fs)
|
|
|
|
NM_001267550.2(TTN):c.32639-2A>C
|
rs2154274686
|
|
|
NM_001267550.2(TTN):c.32656C>T (p.Gln10886Ter)
|
|
|
|
NM_001267550.2(TTN):c.32700dup (p.Glu10901fs)
|
|
|
|
NM_001267550.2(TTN):c.3283del (p.Glu1095fs)
|
|
|
|
NM_001267550.2(TTN):c.32883_32887+6del
|
|
|
|
NM_001267550.2(TTN):c.32887+1G>A
|
rs546105899
|
|
|
NM_001267550.2(TTN):c.32887+1G>T
|
rs546105899
|
|
|
NM_001267550.2(TTN):c.32887+2T>C
|
rs2154273077
|
|
|
NM_001267550.2(TTN):c.32888-1del
|
rs869312041
|
|
|
NM_001267550.2(TTN):c.32922_32923del (p.Thr10975fs)
|
|
|
|
NM_001267550.2(TTN):c.33012dup (p.Pro11005fs)
|
|
|
|
NM_001267550.2(TTN):c.33064C>T (p.Arg11022Ter)
|
rs747806875
|
|
|
NM_001267550.2(TTN):c.33083_33086dup (p.Tyr11029Ter)
|
rs2154271814
|
|
|
NM_001267550.2(TTN):c.33095-1G>C
|
|
|
|
NM_001267550.2(TTN):c.3309C>A (p.Cys1103Ter)
|
rs1467686861
|
|
|
NM_001267550.2(TTN):c.3310C>T (p.Gln1104Ter)
|
|
|
|
NM_001267550.2(TTN):c.33141del (p.Thr11049fs)
|
|
|
|
NM_001267550.2(TTN):c.33173-1G>A
|
rs794729256
|
|
|
NM_001267550.2(TTN):c.33247+2T>A
|
|
|
|
NM_001267550.2(TTN):c.33283dup (p.Ile11095fs)
|
|
|
|
NM_001267550.2(TTN):c.33289_33290del (p.Ile11097fs)
|
|
|
|
NM_001267550.2(TTN):c.33417_33418+1del
|
rs2069047923
|
|
|
NM_001267550.2(TTN):c.33418+2T>A
|
rs779749654
|
|
|
NM_001267550.2(TTN):c.33511G>T (p.Glu11171Ter)
|
|
|
|
NM_001267550.2(TTN):c.3351dup (p.Ser1118fs)
|
rs2092847994
|
|
|
NM_001267550.2(TTN):c.33580+1G>A
|
rs2068947933
|
|
|
NM_001267550.2(TTN):c.33580+2T>C
|
|
|
|
NM_001267550.2(TTN):c.33581-2A>T
|
|
|
|
NM_001267550.2(TTN):c.33636del (p.Lys11213fs)
|
|
|
|
NM_001267550.2(TTN):c.33648del (p.Ala11217fs)
|
|
|
|
NM_001267550.2(TTN):c.33694A>T (p.Lys11232Ter)
|
|
|
|
NM_001267550.2(TTN):c.33710_33725del (p.Ile11237fs)
|
rs2154269652
|
|
|
NM_001267550.2(TTN):c.33743-1G>C
|
|
|
|
NM_001267550.2(TTN):c.33817_33826+8del
|
rs2154269293
|
|
|
NM_001267550.2(TTN):c.33826+1G>A
|
rs1389908421
|
|
|
NM_001267550.2(TTN):c.33826+2T>C
|
|
|
|
NM_001267550.2(TTN):c.33827-1G>A
|
rs2068604683
|
|
|
NM_001267550.2(TTN):c.33892G>T (p.Glu11298Ter)
|
|
|
|
NM_001267550.2(TTN):c.3394dup (p.Tyr1132fs)
|
|
|
|
NM_001267550.2(TTN):c.3396C>A (p.Tyr1132Ter)
|
|
|
|
NM_001267550.2(TTN):c.34022_34041del (p.Val11341fs)
|
|
|
|
NM_001267550.2(TTN):c.34035del (p.Pro11346fs)
|
|
|
|
NM_001267550.2(TTN):c.34039C>T (p.Gln11347Ter)
|
rs2154268786
|
|
|
NM_001267550.2(TTN):c.3404_3407dup (p.Gly1137fs)
|
rs2154348982
|
|
|
NM_001267550.2(TTN):c.34080del (p.Glu11361fs)
|
|
|
|
NM_001267550.2(TTN):c.34093_34102del (p.Pro11365fs)
|
rs1553823547
|
|
|
NM_001267550.2(TTN):c.3417C>A (p.Cys1139Ter)
|
|
|
|
NM_001267550.2(TTN):c.34207G>T (p.Glu11403Ter)
|
rs878921943
|
|
|
NM_001267550.2(TTN):c.34258G>T (p.Glu11420Ter)
|
|
|
|
NM_001267550.2(TTN):c.34379-1G>C
|
|
|
|
NM_001267550.2(TTN):c.34509del (p.Lys11504fs)
|
|
|
|
NM_001267550.2(TTN):c.3457G>T (p.Glu1153Ter)
|
rs2092730732
|
|
|
NM_001267550.2(TTN):c.34587del (p.Glu11530fs)
|
|
|
|
NM_001267550.2(TTN):c.34612+2T>C
|
rs1577253441
|
|
|
NM_001267550.2(TTN):c.34637del (p.Pro11546fs)
|
|
|
|
NM_001267550.2(TTN):c.34643C>G (p.Ser11548Ter)
|
|
|
|
NM_001267550.2(TTN):c.34709-1G>A
|
rs727503634
|
|
|
NM_001267550.2(TTN):c.34786+1G>A
|
|
|
|
NM_001267550.2(TTN):c.34786+1G>T
|
rs879010418
|
|
|
NM_001267550.2(TTN):c.34812del (p.Val11605fs)
|
|
|
|
NM_001267550.2(TTN):c.34823del (p.Pro11608fs)
|
|
|
|
NM_001267550.2(TTN):c.34863del (p.Val11622fs)
|
|
|
|
NM_001267550.2(TTN):c.34923del (p.Ala11642fs)
|
|
|
|
NM_001267550.2(TTN):c.35044G>T (p.Glu11682Ter)
|
|
|
|
NM_001267550.2(TTN):c.35044del (p.Glu11682fs)
|
rs2067110004
|
|
|
NM_001267550.2(TTN):c.35053del (p.His11685fs)
|
|
|
|
NM_001267550.2(TTN):c.35083G>T (p.Glu11695Ter)
|
|
|
|
NM_001267550.2(TTN):c.35123del (p.His11708fs)
|
|
|
|
NM_001267550.2(TTN):c.35125A>T (p.Arg11709Ter)
|
|
|
|
NM_001267550.2(TTN):c.35154dup (p.Val11719fs)
|
rs2067087661
|
|
|
NM_001267550.2(TTN):c.35177_35178del (p.Val11725_Phe11726insTer)
|
|
|
|
NM_001267550.2(TTN):c.3523+1_3523+5del
|
|
|
|
NM_001267550.2(TTN):c.3523+1_3523+5delinsCAGGAAC
|
|
|
|
NM_001267550.2(TTN):c.35265dup (p.Pro11756fs)
|
rs1198364572
|
|
|
NM_001267550.2(TTN):c.35287C>T (p.Arg11763Ter)
|
rs886044207
|
|
|
NM_001267550.2(TTN):c.35308+1G>A
|
|
|
|
NM_001267550.2(TTN):c.35308+1G>T
|
rs1423135750
|
|
|
NM_001267550.2(TTN):c.35309-1G>A
|
|
|
|
NM_001267550.2(TTN):c.35321_35322del (p.Pro11774fs)
|
|
|
|
NM_001267550.2(TTN):c.35346del (p.Val11783fs)
|
rs2154263836
|
|
|
NM_001267550.2(TTN):c.35386+170_35397del
|
|
|
|
NM_001267550.2(TTN):c.35392G>T (p.Glu11798Ter)
|
|
|
|
NM_001267550.2(TTN):c.35429del (p.Arg11810fs)
|
rs2154263436
|
|
|
NM_001267550.2(TTN):c.3544A>T (p.Lys1182Ter)
|
rs2092638111
|
|
|
NM_001267550.2(TTN):c.35470+2T>A
|
|
|
|
NM_001267550.2(TTN):c.35487del (p.Ser11831fs)
|
|
|
|
NM_001267550.2(TTN):c.35488_35492del (p.Lys11830fs)
|
rs1370876304
|
|
|
NM_001267550.2(TTN):c.35506A>T (p.Lys11836Ter)
|
|
|
|
NM_001267550.2(TTN):c.35537del (p.Glu11846fs)
|
|
|
|
NM_001267550.2(TTN):c.3553C>T (p.Gln1185Ter)
|
|
|
|
NM_001267550.2(TTN):c.35545+1G>A
|
rs2154263213
|
|
|
NM_001267550.2(TTN):c.35602C>T (p.Gln11868Ter)
|
|
|
|
NM_001267550.2(TTN):c.35629+2T>G
|
|
|
|
NM_001267550.2(TTN):c.35630-1G>A
|
|
|
|
NM_001267550.2(TTN):c.35630-1G>C
|
rs2154262004
|
|
|
NM_001267550.2(TTN):c.35643del (p.Lys11882fs)
|
|
|
|
NM_001267550.2(TTN):c.35675_35676del (p.Val11892fs)
|
rs1440560303
|
|
|
NM_001267550.2(TTN):c.35713+1del
|
|
|
|
NM_001267550.2(TTN):c.35714-1G>C
|
rs2154261850
|
|
|
NM_001267550.2(TTN):c.35739dup (p.Pro11914fs)
|
rs968544783
|
|
|
NM_001267550.2(TTN):c.35875+1G>C
|
|
|
|
NM_001267550.2(TTN):c.35974A>T (p.Lys11992Ter)
|
|
|
|
NM_001267550.2(TTN):c.35976_35979del (p.Glu11993fs)
|
|
|
|
NM_001267550.2(TTN):c.36003del (p.Phe12001fs)
|
|
|
|
NM_001267550.2(TTN):c.36019G>T (p.Glu12007Ter)
|
|
|
|
NM_001267550.2(TTN):c.36040_36043+4del
|
|
|
|
NM_001267550.2(TTN):c.36043+2T>C
|
|
|
|
NM_001267550.2(TTN):c.36044-2A>C
|
|
|
|
NM_001267550.2(TTN):c.36048del (p.Glu12017fs)
|
|
|
|
NM_001267550.2(TTN):c.36088del (p.Ser12030fs)
|
|
|
|
NM_001267550.2(TTN):c.36091A>T (p.Lys12031Ter)
|
|
|
|
NM_001267550.2(TTN):c.36097del (p.Arg12033fs)
|
rs769704822
|
|
|
NM_001267550.2(TTN):c.36097dup (p.Arg12033fs)
|
|
|
|
NM_001267550.2(TTN):c.36107del (p.Pro12036fs)
|
|
|
|
NM_001267550.2(TTN):c.36119-1G>C
|
rs1239720687
|
|
|
NM_001267550.2(TTN):c.36202+1G>A
|
|
|
|
NM_001267550.2(TTN):c.36202+1G>T
|
|
|
|
NM_001267550.2(TTN):c.36203-15_36217del
|
|
|
|
NM_001267550.2(TTN):c.36222_36225del (p.Val12075fs)
|
|
|
|
NM_001267550.2(TTN):c.36265del (p.Val12089fs)
|
rs2154259826
|
|
|
NM_001267550.2(TTN):c.36267_36280+16del
|
rs745871962
|
|
|
NM_001267550.2(TTN):c.36280+1G>A
|
|
|
|
NM_001267550.2(TTN):c.36280+1G>C
|
|
|
|
NM_001267550.2(TTN):c.36280+1G>T
|
|
|
|
NM_001267550.2(TTN):c.36280+2T>A
|
|
|
|
NM_001267550.2(TTN):c.36280+2T>G
|
|
|
|
NM_001267550.2(TTN):c.36281-1G>A
|
|
|
|
NM_001267550.2(TTN):c.36281-1G>C
|
|
|
|
NM_001267550.2(TTN):c.36335del (p.Pro12112fs)
|
|
|
|
NM_001267550.2(TTN):c.36349dup (p.Val12117fs)
|
|
|
|
NM_001267550.2(TTN):c.36364+1G>C
|
|
|
|
NM_001267550.2(TTN):c.36364+2T>A
|
|
|
|
NM_001267550.2(TTN):c.36365-1G>A
|
rs577672565
|
|
|
NM_001267550.2(TTN):c.36365-1G>C
|
|
|
|
NM_001267550.2(TTN):c.36395_36396del (p.Glu12132fs)
|
|
|
|
NM_001267550.2(TTN):c.36402del (p.Val12135fs)
|
rs1271664419
|
|
|
NM_001267550.2(TTN):c.36426del (p.Glu12142fs)
|
|
|
|
NM_001267550.2(TTN):c.36507dup (p.Glu12170fs)
|
|
|
|
NM_001267550.2(TTN):c.36532+2T>G
|
|
|
|
NM_001267550.2(TTN):c.365del (p.Arg122fs)
|
rs2154359059
|
|
|
NM_001267550.2(TTN):c.3664C>T (p.Gln1222Ter)
|
rs1227198694
|
|
|
NM_001267550.2(TTN):c.3717T>G (p.Tyr1239Ter)
|
|
|
|
NM_001267550.2(TTN):c.3729+1G>A
|
rs781562337
|
|
|
NM_001267550.2(TTN):c.3732del (p.Glu1244fs)
|
|
|
|
NM_001267550.2(TTN):c.3758_3759del (p.Arg1253fs)
|
|
|
|
NM_001267550.2(TTN):c.3769G>T (p.Glu1257Ter)
|
|
|
|
NM_001267550.2(TTN):c.3800T>A (p.Leu1267Ter)
|
|
|
|
NM_001267550.2(TTN):c.3817G>T (p.Glu1273Ter)
|
rs2154347744
|
|
|
NM_001267550.2(TTN):c.38182A>T (p.Lys12728Ter)
|
|
|
|
NM_001267550.2(TTN):c.3829G>T (p.Glu1277Ter)
|
|
|
|
NM_001267550.2(TTN):c.3831_3835del (p.Glu1277fs)
|
rs1060500558
|
|
|
NM_001267550.2(TTN):c.3838del (p.Ala1280fs)
|
|
|
|
NM_001267550.2(TTN):c.3864del (p.Val1289fs)
|
rs2154347714
|
|
|
NM_001267550.2(TTN):c.38741_38745del (p.Lys12914fs)
|
|
|
|
NM_001267550.2(TTN):c.39127+2T>C
|
|
|
|
NM_001267550.2(TTN):c.39163_39166del (p.Lys13055fs)
|
rs2063155917
|
|
|
NM_001267550.2(TTN):c.39204del (p.Thr13069fs)
|
rs1560106851
|
|
|
NM_001267550.2(TTN):c.39210del (p.Val13071fs)
|
rs2154250499
|
|
|
NM_001267550.2(TTN):c.39211+1G>A
|
|
|
|
NM_001267550.2(TTN):c.39212-1G>A
|
|
|
|
NM_001267550.2(TTN):c.39251del (p.Val13084fs)
|
|
|
|
NM_001267550.2(TTN):c.39295+1G>C
|
|
|
|
NM_001267550.2(TTN):c.39313G>T (p.Glu13105Ter)
|
|
|
|
NM_001267550.2(TTN):c.39380-1G>C
|
rs2063018968
|
|
|
NM_001267550.2(TTN):c.39428dup (p.Val13144fs)
|
|
|
|
NM_001267550.2(TTN):c.39463+1G>C
|
rs1553770003
|
|
|
NM_001267550.2(TTN):c.39463+2T>C
|
rs1576956162
|
|
|
NM_001267550.2(TTN):c.39511del (p.Val13171fs)
|
|
|
|
NM_001267550.2(TTN):c.39539del (p.Pro13180fs)
|
rs2062944024
|
|
|
NM_001267550.2(TTN):c.39546del (p.Val13183fs)
|
|
|
|
NM_001267550.2(TTN):c.39547+1G>T
|
|
|
|
NM_001267550.2(TTN):c.39580A>T (p.Lys13194Ter)
|
rs2154249634
|
|
|
NM_001267550.2(TTN):c.39625+1G>C
|
|
|
|
NM_001267550.2(TTN):c.39625+2T>C
|
rs774766702
|
|
|
NM_001267550.2(TTN):c.3963+1G>T
|
rs1561325112
|
|
|
NM_001267550.2(TTN):c.39709+1G>A
|
|
|
|
NM_001267550.2(TTN):c.39727G>T (p.Glu13243Ter)
|
|
|
|
NM_001267550.2(TTN):c.3972G>A (p.Trp1324Ter)
|
rs1561323791
|
|
|
NM_001267550.2(TTN):c.39817+1G>A
|
|
|
|
NM_001267550.2(TTN):c.39817+1G>C
|
rs959064823
|
|
|
NM_001267550.2(TTN):c.39818-1G>C
|
rs2062662018
|
|
|
NM_001267550.2(TTN):c.39834del (p.Lys13279fs)
|
rs886044415
|
|
|
NM_001267550.2(TTN):c.39852del (p.Val13286fs)
|
|
|
|
NM_001267550.2(TTN):c.39895+1G>A
|
rs749931280
|
|
|
NM_001267550.2(TTN):c.39895+1G>C
|
rs749931280
|
|
|
NM_001267550.2(TTN):c.39895+2T>C
|
|
|
|
NM_001267550.2(TTN):c.39953del (p.Pro13318fs)
|
|
|
|
NM_001267550.2(TTN):c.39973+1G>A
|
|
|
|
NM_001267550.2(TTN):c.39973+1G>T
|
|
|
|
NM_001267550.2(TTN):c.39974-1G>A
|
|
|
|
NM_001267550.2(TTN):c.40053_40057+421del
|
|
|
|
NM_001267550.2(TTN):c.40057+1G>A
|
|
|
|
NM_001267550.2(TTN):c.40057+1G>C
|
|
|
|
NM_001267550.2(TTN):c.40057+1G>T
|
|
|
|
NM_001267550.2(TTN):c.40058-1G>A
|
|
|
|
NM_001267550.2(TTN):c.40220_40222+1del
|
rs2154245535
|
|
|
NM_001267550.2(TTN):c.40222+1G>A
|
|
|
|
NM_001267550.2(TTN):c.40222+1_40222+2del
|
|
|
|
NM_001267550.2(TTN):c.40223-1G>A
|
|
|
|
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter)
|
rs727503697
|
|
|
NM_001267550.2(TTN):c.40297+1G>A
|
|
|
|
NM_001267550.2(TTN):c.40342del (p.Arg13448fs)
|
|
|
|
NM_001267550.2(TTN):c.40349del (p.Pro13450fs)
|
|
|
|
NM_001267550.2(TTN):c.40404del (p.Ala13470fs)
|
|
|
|
NM_001267550.2(TTN):c.40437del (p.Lys13479fs)
|
|
|
|
NM_001267550.2(TTN):c.40483_40484delinsTA (p.Gly13495Ter)
|
|
|
|
NM_001267550.2(TTN):c.40489G>T (p.Glu13497Ter)
|
|
|
|
NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter)
|
rs974323028
|
|
|
NM_001267550.2(TTN):c.40516G>T (p.Glu13506Ter)
|
|
|
|
NM_001267550.2(TTN):c.40537del (p.Glu13513fs)
|
rs1553756349
|
|
|
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu)
|
rs587780488
|
|
|
NM_001267550.2(TTN):c.40576G>T (p.Glu13526Ter)
|
rs1560026402
|
|
|
NM_001267550.2(TTN):c.4057_4058del (p.Val1353fs)
|
|
|
|
NM_001267550.2(TTN):c.40626dup (p.Pro13543fs)
|
rs1553754743
|
|
|
NM_001267550.2(TTN):c.40633+1G>A
|
|
|
|
NM_001267550.2(TTN):c.40635del (p.Pro13546fs)
|
rs2154238079
|
|
|
NM_001267550.2(TTN):c.40660del (p.Val13554fs)
|
|
|
|
NM_001267550.2(TTN):c.40663G>T (p.Glu13555Ter)
|
|
|
|
NM_001267550.2(TTN):c.40686del (p.Thr13563fs)
|
|
|
|
NM_001267550.2(TTN):c.40688_40689insT (p.Arg13565fs)
|
rs2154238038
|
|
|
NM_001267550.2(TTN):c.40691_40713dup (p.Pro13572fs)
|
|
|
|
NM_001267550.2(TTN):c.40699_40703del (p.Arg13567fs)
|
rs2154238027
|
|
|
NM_001267550.2(TTN):c.40699del (p.Arg13567fs)
|
|
|
|
NM_001267550.2(TTN):c.40724-1G>C
|
|
|
|
NM_001267550.2(TTN):c.40750dup (p.Leu13584fs)
|
rs2061028828
|
|
|
NM_001267550.2(TTN):c.40751_40769del (p.Leu13584fs)
|
|
|
|
NM_001267550.2(TTN):c.40760_40787-52del
|
rs1553752889
|
|
|
NM_001267550.2(TTN):c.40787-2A>G
|
|
|
|
NM_001267550.2(TTN):c.40917del (p.Pro13640fs)
|
|
|
|
NM_001267550.2(TTN):c.40921_40922dup (p.Lys13642fs)
|
|
|
|
NM_001267550.2(TTN):c.40927+1G>A
|
rs1553749862
|
|
|
NM_001267550.2(TTN):c.40928-2A>C
|
rs2154231706
|
|
|
NM_001267550.2(TTN):c.40940del (p.Lys13647fs)
|
rs2154231664
|
|
|
NM_001267550.2(TTN):c.40940dup (p.Thr13648fs)
|
|
|
|
NM_001267550.2(TTN):c.41043del (p.Pro13682fs)
|
|
|
|
NM_001267550.2(TTN):c.41222_41223del (p.Arg13741fs)
|
rs1436937190
|
|
|
NM_001267550.2(TTN):c.41275_41276del (p.Val13759fs)
|
rs1576745536
|
|
|
NM_001267550.2(TTN):c.41326dup (p.Glu13776fs)
|
rs2154231011
|
|
|
NM_001267550.2(TTN):c.41329+1G>T
|
rs796238032
|
|
|
NM_001267550.2(TTN):c.41329+2T>G
|
rs1553747489
|
|
|
NM_001267550.2(TTN):c.41330-1G>T
|
rs2154230691
|
|
|
NM_001267550.2(TTN):c.41367dup (p.Val13790fs)
|
|
|
|
NM_001267550.2(TTN):c.41406C>A (p.Cys13802Ter)
|
|
|
|
NM_001267550.2(TTN):c.41407G>T (p.Glu13803Ter)
|
|
|
|
NM_001267550.2(TTN):c.41415_41418del (p.Asn13805fs)
|
rs1576741993
|
|
|
NM_001267550.2(TTN):c.41417_41418del (p.Lys13806fs)
|
|
|
|
NM_001267550.2(TTN):c.41432del (p.Val13811fs)
|
rs2060408539
|
|
|
NM_001267550.2(TTN):c.41434dup (p.Trp13812fs)
|
rs2060408311
|
|
|
NM_001267550.2(TTN):c.41436G>A (p.Trp13812Ter)
|
rs2060408042
|
|
|
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter)
|
rs869312043
|
|
|
NM_001267550.2(TTN):c.41483del (p.Pro13828fs)
|
rs876657664
|
|
|
NM_001267550.2(TTN):c.41581G>T (p.Glu13861Ter)
|
rs2154230108
|
|
|
NM_001267550.2(TTN):c.41609-2A>C
|
rs730880244
|
|
|
NM_001267550.2(TTN):c.41609-2A>G
|
rs730880244
|
|
|
NM_001267550.2(TTN):c.41756_41759dup (p.Lys13920_Thr13921insTer)
|
|
|
|
NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter)
|
rs794729380
|
|
|
NM_001267550.2(TTN):c.41794del (p.Leu13932fs)
|
rs2060330825
|
|
|
NM_001267550.2(TTN):c.41817del (p.Glu13940fs)
|
rs2154229464
|
|
|
NM_001267550.2(TTN):c.41882dup (p.Glu13962fs)
|
|
|
|
NM_001267550.2(TTN):c.41885-3_41885del
|
rs2154229192
|
|
|
NM_001267550.2(TTN):c.41937del (p.Glu13980fs)
|
|
|
|
NM_001267550.2(TTN):c.41939_41942del (p.Glu13980fs)
|
|
|
|
NM_001267550.2(TTN):c.41941dup (p.Ser13981fs)
|
|
|
|
NM_001267550.2(TTN):c.41962_41963del (p.Ile13988fs)
|
|
|
|
NM_001267550.2(TTN):c.42024+1G>C
|
rs2154228980
|
|
|
NM_001267550.2(TTN):c.42024+4A>G
|
|
|
|
NM_001267550.2(TTN):c.42024del (p.Thr14009fs)
|
rs2060282891
|
|
|
NM_001267550.2(TTN):c.42054dup (p.Arg14019fs)
|
rs1559977271
|
|
|
NM_001267550.2(TTN):c.42097G>T (p.Glu14033Ter)
|
rs2154228367
|
|
|
NM_001267550.2(TTN):c.42108C>G (p.Tyr14036Ter)
|
rs1311474144
|
|
|
NM_001267550.2(TTN):c.42137_42146del (p.Ile14046fs)
|
|
|
|
NM_001267550.2(TTN):c.42145_42149del (p.Val14049fs)
|
|
|
|
NM_001267550.2(TTN):c.42152-7_42153del
|
rs1559975119
|
|
|
NM_001267550.2(TTN):c.4216_4219del (p.Ser1406fs)
|
rs2154346896
|
|
|
NM_001267550.2(TTN):c.42181A>T (p.Lys14061Ter)
|
|
|
|
NM_001267550.2(TTN):c.4218_4219del (p.Pro1407fs)
|
|
|
|
NM_001267550.2(TTN):c.42202dup (p.Arg14068fs)
|
rs1559974529
|
|
|
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter)
|
rs2060187635
|
|
|
NM_001267550.2(TTN):c.42208C>T (p.Gln14070Ter)
|
rs2154227697
|
|
|
NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter)
|
rs745926057
|
|
|
NM_001267550.2(TTN):c.42235del (p.Arg14079fs)
|
rs2154227519
|
|
|
NM_001267550.2(TTN):c.42268del (p.Asp14090fs)
|
|
|
|
NM_001267550.2(TTN):c.42281C>A (p.Ser14094Ter)
|
|
|
|
NM_001267550.2(TTN):c.42281C>G (p.Ser14094Ter)
|
|
|
|
NM_001267550.2(TTN):c.42319_42322dup (p.Ile14108fs)
|
rs2060173229
|
|
|
NM_001267550.2(TTN):c.42343C>T (p.Gln14115Ter)
|
rs2060169705
|
|
|
NM_001267550.2(TTN):c.42364dup (p.Tyr14122fs)
|
|
|
|
NM_001267550.2(TTN):c.42371_42390del (p.Ala14124fs)
|
|
|
|
NM_001267550.2(TTN):c.42388A>T (p.Lys14130Ter)
|
|
|
|
NM_001267550.2(TTN):c.42451C>T (p.Gln14151Ter)
|
|
|
|
NM_001267550.2(TTN):c.42474del (p.Ala14159fs)
|
rs2060122241
|
|
|
NM_001267550.2(TTN):c.42484del (p.Val14162fs)
|
|
|
|
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs)
|
rs797046064
|
|
|
NM_001267550.2(TTN):c.42535dup (p.Ala14179fs)
|
|
|
|
NM_001267550.2(TTN):c.42540del (p.Lys14180fs)
|
|
|
|
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs)
|
rs1553742630
|
|
|
NM_001267550.2(TTN):c.42636del (p.Ala14213fs)
|
rs869312106
|
|
|
NM_001267550.2(TTN):c.42639dup (p.Gln14214fs)
|
rs2060106818
|
|
|
NM_001267550.2(TTN):c.42667C>T (p.Gln14223Ter)
|
|
|
|
NM_001267550.2(TTN):c.42695del (p.Tyr14232fs)
|
|
|
|
NM_001267550.2(TTN):c.42785G>A (p.Trp14262Ter)
|
rs886042681
|
|
|
NM_001267550.2(TTN):c.427G>T (p.Glu143Ter)
|
|
|
|
NM_001267550.2(TTN):c.42895dup (p.Tyr14299fs)
|
|
|
|
NM_001267550.2(TTN):c.42897T>G (p.Tyr14299Ter)
|
|
|
|
NM_001267550.2(TTN):c.42919_42923del (p.Lys14307fs)
|
rs1060500566
|
|
|
NM_001267550.2(TTN):c.4293del (p.Met1432fs)
|
|
|
|
NM_001267550.2(TTN):c.42946+1G>T
|
rs1553741531
|
|
|
NM_001267550.2(TTN):c.42949C>T (p.Arg14317Ter)
|
rs376799532
|
|
|
NM_001267550.2(TTN):c.42978C>A (p.Tyr14326Ter)
|
|
|
|
NM_001267550.2(TTN):c.42993del (p.Phe14331fs)
|
|
|
|
NM_001267550.2(TTN):c.43018del (p.Ile14340fs)
|
|
|
|
NM_001267550.2(TTN):c.4301del (p.Pro1434fs)
|
|
|
|
NM_001267550.2(TTN):c.43122del (p.Ile14374_Leu14375insTer)
|
rs1203006457
|
|
|
NM_001267550.2(TTN):c.43126del (p.Ile14376fs)
|
|
|
|
NM_001267550.2(TTN):c.43141C>T (p.Gln14381Ter)
|
rs754568652
|
|
|
NM_001267550.2(TTN):c.43195_43198del (p.Ala14399fs)
|
|
|
|
NM_001267550.2(TTN):c.43213+1G>A
|
|
|
|
NM_001267550.2(TTN):c.43213+1G>T
|
|
|
|
NM_001267550.2(TTN):c.43214-1G>C
|
|
|
|
NM_001267550.2(TTN):c.43214-2A>G
|
|
|
|
NM_001267550.2(TTN):c.43253_43254del (p.Lys14418fs)
|
rs2059956960
|
|
|
NM_001267550.2(TTN):c.43269del (p.Asp14423fs)
|
|
|
|
NM_001267550.2(TTN):c.43288del (p.Glu14430fs)
|
|
|
|
NM_001267550.2(TTN):c.432_442del (p.Ile144_Gln145insTer)
|
|
|
|
NM_001267550.2(TTN):c.4330del (p.Glu1444fs)
|
|
|
|
NM_001267550.2(TTN):c.43316del (p.Arg14439fs)
|
|
|
|
NM_001267550.2(TTN):c.43319G>A (p.Trp14440Ter)
|
|
|
|
NM_001267550.2(TTN):c.43359del (p.Phe14453fs)
|
|
|
|
NM_001267550.2(TTN):c.43372del (p.Asp14458fs)
|
rs794729314
|
|
|
NM_001267550.2(TTN):c.43418del (p.Asp14473fs)
|
|
|
|
NM_001267550.2(TTN):c.43446del (p.Asp14483fs)
|
rs2154221841
|
|
|
NM_001267550.2(TTN):c.43457_43458del (p.Thr14486fs)
|
|
|
|
NM_001267550.2(TTN):c.43474del (p.Ile14492fs)
|
rs2059934937
|
|
|
NM_001267550.2(TTN):c.43480+2T>C
|
|
|
|
NM_001267550.2(TTN):c.43483del (p.Ile14495fs)
|
rs2059913524
|
|
|
NM_001267550.2(TTN):c.43509del (p.Asp14505fs)
|
|
|
|
NM_001267550.2(TTN):c.43538del (p.Ser14513fs)
|
|
|
|
NM_001267550.2(TTN):c.43563_43575del (p.His14522fs)
|
|
|
|
NM_001267550.2(TTN):c.43576C>T (p.Arg14526Ter)
|
rs2154220622
|
|
|
NM_001267550.2(TTN):c.43633C>T (p.Gln14545Ter)
|
|
|
|
NM_001267550.2(TTN):c.43652dup (p.His14551fs)
|
|
|
|
NM_001267550.2(TTN):c.43655C>A (p.Ser14552Ter)
|
|
|
|
NM_001267550.2(TTN):c.43710dup (p.Met14571fs)
|
rs2154220574
|
|
|
NM_001267550.2(TTN):c.43727_43728del (p.Glu14576fs)
|
rs794729316
|
|
|
NM_001267550.2(TTN):c.43748-1G>A
|
rs794729259
|
|
|
NM_001267550.2(TTN):c.43750G>T (p.Gly14584Ter)
|
rs2154220286
|
|
|
NM_001267550.2(TTN):c.43777dup (p.Gln14593fs)
|
|
|
|
NM_001267550.2(TTN):c.4385_4386delinsG (p.Lys1462fs)
|
rs2092387027
|
|
|
NM_001267550.2(TTN):c.43861del (p.Asp14621fs)
|
|
|
|
NM_001267550.2(TTN):c.43960C>T (p.Gln14654Ter)
|
rs1463883512
|
|
|
NM_001267550.2(TTN):c.44014+2T>C
|
|
|
|
NM_001267550.2(TTN):c.4413del (p.Gln1472fs)
|
rs2092384255
|
|
|
NM_001267550.2(TTN):c.44149del (p.Thr14717fs)
|
|
|
|
NM_001267550.2(TTN):c.44154+1G>C
|
|
|
|
NM_001267550.2(TTN):c.44247del (p.Asn14750fs)
|
rs2059639706
|
|
|
NM_001267550.2(TTN):c.44249del (p.Asn14750fs)
|
rs2154219900
|
|
|
NM_001267550.2(TTN):c.44251_44257del (p.Val14751fs)
|
|
|
|
NM_001267550.2(TTN):c.44281+1G>A
|
rs771562210
|
|
|
NM_001267550.2(TTN):c.44281+1del
|
|
|
|
NM_001267550.2(TTN):c.44281+2_44281+3insTT
|
|
|
|
NM_001267550.2(TTN):c.44281+2dup
|
rs773570018
|
|
|
NM_001267550.2(TTN):c.44281+5G>C
|
|
|
|
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter)
|
rs770767998
|
|
|
NM_001267550.2(TTN):c.44289_44290del (p.Ile14764fs)
|
rs2059501959
|
|
|
NM_001267550.2(TTN):c.44294dup (p.Leu14766fs)
|
|
|
|
NM_001267550.2(TTN):c.44311A>T (p.Lys14771Ter)
|
|
|
|
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs)
|
rs397517576
|
|
|
NM_001267550.2(TTN):c.44378del (p.Pro14793fs)
|
rs1064796121
|
|
|
NM_001267550.2(TTN):c.44387G>A (p.Trp14796Ter)
|
|
|
|
NM_001267550.2(TTN):c.44400del (p.Lys14801fs)
|
rs727503628
|
|
|
NM_001267550.2(TTN):c.44404_44424+8del
|
rs2154219379
|
|
|
NM_001267550.2(TTN):c.44415dup (p.Ser14806fs)
|
rs2154219387
|
|
|
NM_001267550.2(TTN):c.44438C>G (p.Ser14813Ter)
|
|
|
|
NM_001267550.2(TTN):c.44451del (p.His14818fs)
|
|
|
|
NM_001267550.2(TTN):c.44461_44464del (p.Leu14820_Thr14821insTer)
|
|
|
|
NM_001267550.2(TTN):c.44490dup (p.Gly14831fs)
|
|
|
|
NM_001267550.2(TTN):c.44494del (p.Glu14832fs)
|
rs1553725355
|
|
|
NM_001267550.2(TTN):c.44504_44507del (p.Leu14835fs)
|
|
|
|
NM_001267550.2(TTN):c.44508del (p.Ala14837fs)
|
|
|
|
NM_001267550.2(TTN):c.44537del (p.Leu14846fs)
|
rs2058861849
|
|
|
NM_001267550.2(TTN):c.44540_44541del (p.Phe14847fs)
|
|
|
|
NM_001267550.2(TTN):c.44584C>T (p.Gln14862Ter)
|
|
|
|
NM_001267550.2(TTN):c.44603_44633del (p.Ala14868fs)
|
|
|
|
NM_001267550.2(TTN):c.44683del (p.Ser14895fs)
|
rs886044263
|
|
|
NM_001267550.2(TTN):c.4480+1G>A
|
rs766581255
|
|
|
NM_001267550.2(TTN):c.4480+1G>T
|
rs766581255
|
|
|
NM_001267550.2(TTN):c.44854C>T (p.Gln14952Ter)
|
rs2154213117
|
|
|
NM_001267550.2(TTN):c.44868del (p.Glu14957fs)
|
|
|
|
NM_001267550.2(TTN):c.44869G>T (p.Glu14957Ter)
|
|
|
|
NM_001267550.2(TTN):c.44878C>T (p.Arg14960Ter)
|
rs2058478213
|
|
|
NM_001267550.2(TTN):c.44889_44890dup (p.Glu14964fs)
|
rs2154213095
|
|
|
NM_001267550.2(TTN):c.44906del (p.Asn14969fs)
|
|
|
|
NM_001267550.2(TTN):c.44913+1G>T
|
rs1553721106
|
|
|
NM_001267550.2(TTN):c.44969del (p.Ile14990fs)
|
rs2154212465
|
|
|
NM_001267550.2(TTN):c.45083-1G>A
|
|
|
|
NM_001267550.2(TTN):c.45090del (p.Ala15031fs)
|
|
|
|
NM_001267550.2(TTN):c.45100dup (p.Thr15034fs)
|
rs2154212181
|
|
|
NM_001267550.2(TTN):c.45156T>A (p.Cys15052Ter)
|
rs1060500487
|
|
|
NM_001267550.2(TTN):c.45192del (p.Trp15063_Tyr15064insTer)
|
rs1553718908
|
|
|
NM_001267550.2(TTN):c.45221del (p.Gly15074fs)
|
rs2058288753
|
|
|
NM_001267550.2(TTN):c.45300C>A (p.Tyr15100Ter)
|
|
|
|
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs)
|
rs794729390
|
|
|
NM_001267550.2(TTN):c.45349+1G>A
|
rs2154211977
|
|
|
NM_001267550.2(TTN):c.45349+1G>T
|
|
|
|
NM_001267550.2(TTN):c.45350-1G>C
|
rs2058237051
|
|
|
NM_001267550.2(TTN):c.45355del (p.Ala15119fs)
|
|
|
|
NM_001267550.2(TTN):c.4537C>T (p.Gln1513Ter)
|
rs2092360420
|
|
|
NM_001267550.2(TTN):c.45383del (p.Asn15128fs)
|
|
|
|
NM_001267550.2(TTN):c.45431C>A (p.Ser15144Ter)
|
|
|
|
NM_001267550.2(TTN):c.45451C>T (p.Gln15151Ter)
|
|
|
|
NM_001267550.2(TTN):c.45459del (p.Arg15154fs)
|
|
|
|
NM_001267550.2(TTN):c.45483_45495del (p.Gly15162fs)
|
|
|
|
NM_001267550.2(TTN):c.45495T>G (p.Tyr15165Ter)
|
|
|
|
NM_001267550.2(TTN):c.45520_45521del (p.Arg15174fs)
|
|
|
|
NM_001267550.2(TTN):c.45535A>T (p.Lys15179Ter)
|
rs1559877046
|
|
|
NM_001267550.2(TTN):c.45564_45567dup (p.Val15190fs)
|
rs2154211664
|
|
|
NM_001267550.2(TTN):c.45567C>G (p.Tyr15189Ter)
|
|
|
|
NM_001267550.2(TTN):c.45583del (p.Ala15195fs)
|
rs2154211651
|
|
|
NM_001267550.2(TTN):c.45583dup (p.Ala15195fs)
|
|
|
|
NM_001267550.2(TTN):c.45602_45605del (p.His15201fs)
|
|
|
|
NM_001267550.2(TTN):c.45610_45613dup (p.Ile15205fs)
|
rs2058205143
|
|
|
NM_001267550.2(TTN):c.45667C>T (p.Gln15223Ter)
|
|
|
|
NM_001267550.2(TTN):c.45674_45675del (p.Val15225fs)
|
rs1232518763
|
|
|
NM_001267550.2(TTN):c.45724A>T (p.Arg15242Ter)
|
|
|
|
NM_001267550.2(TTN):c.45730G>T (p.Glu15244Ter)
|
rs2058161147
|
|
|
NM_001267550.2(TTN):c.45741_45744dup (p.Asp15249delinsIleTer)
|
|
|
|
NM_001267550.2(TTN):c.45758_45764del (p.Tyr15253fs)
|
rs1559873786
|
|
|
NM_001267550.2(TTN):c.45769C>T (p.Gln15257Ter)
|
rs2154211378
|
|
|
NM_001267550.2(TTN):c.45787_45793del (p.Thr15263fs)
|
|
|
|
NM_001267550.2(TTN):c.45809_45810del (p.His15270fs)
|
rs2154211339
|
|
|
NM_001267550.2(TTN):c.45814del (p.Asp15272fs)
|
rs1576550450
|
|
|
NM_001267550.2(TTN):c.45837_45838del (p.Ser15280fs)
|
rs2058146182
|
|
|
NM_001267550.2(TTN):c.45852_45853del (p.His15284fs)
|
rs1266824761
|
|
|
NM_001267550.2(TTN):c.45895+1G>T
|
rs727504589
|
|
|
NM_001267550.2(TTN):c.45896-1G>A
|
|
|
|
NM_001267550.2(TTN):c.45920del (p.Pro15307fs)
|
|
|
|
NM_001267550.2(TTN):c.4592_4596del (p.Val1531fs)
|
rs1131691910
|
|
|
NM_001267550.2(TTN):c.45937del (p.Thr15313fs)
|
|
|
|
NM_001267550.2(TTN):c.45953_45954del (p.Ser15318fs)
|
|
|
|
NM_001267550.2(TTN):c.45966G>A (p.Trp15322Ter)
|
|
|
|
NM_001267550.2(TTN):c.45970A>T (p.Lys15324Ter)
|
|
|
|
NM_001267550.2(TTN):c.45989dup (p.Thr15331fs)
|
rs1553715911
|
|
|
NM_001267550.2(TTN):c.45991del (p.Thr15331fs)
|
|
|
|
NM_001267550.2(TTN):c.46017dup (p.Glu15340fs)
|
|
|
|
NM_001267550.2(TTN):c.46048A>T (p.Arg15350Ter)
|
|
|
|
NM_001267550.2(TTN):c.4607C>T (p.Ala1536Val)
|
|
|
|
NM_001267550.2(TTN):c.46164del (p.Ala15389fs)
|
|
|
|
NM_001267550.2(TTN):c.46197_46198insGAACCCTT (p.Gln15400fs)
|
|
|
|
NM_001267550.2(TTN):c.46201_46204del (p.Thr15401fs)
|
|
|
|
NM_001267550.2(TTN):c.46208_46209del (p.Thr15403fs)
|
|
|
|
NM_001267550.2(TTN):c.46214dup (p.Asp15406fs)
|
|
|
|
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter)
|
rs368200299
|
|
|
NM_001267550.2(TTN):c.46237C>T (p.Gln15413Ter)
|
|
|
|
NM_001267550.2(TTN):c.46245del (p.Arg15416fs)
|
|
|
|
NM_001267550.2(TTN):c.46269G>A (p.Trp15423Ter)
|
|
|
|
NM_001267550.2(TTN):c.46285G>T (p.Glu15429Ter)
|
rs1576543528
|
|
|
NM_001267550.2(TTN):c.46304+1G>T
|
|
|
|
NM_001267550.2(TTN):c.46304+2T>G
|
|
|
|
NM_001267550.2(TTN):c.46304+2_46304+5del
|
|
|
|
NM_001267550.2(TTN):c.46305-2A>G
|
|
|
|
NM_001267550.2(TTN):c.46308C>G (p.Tyr15436Ter)
|
|
|
|
NM_001267550.2(TTN):c.46309A>T (p.Lys15437Ter)
|
rs2154210717
|
|
|
NM_001267550.2(TTN):c.46335_46336del (p.His15445fs)
|
|
|
|
NM_001267550.2(TTN):c.46344_46348dup (p.Lys15450delinsIleTer)
|
|
|
|
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)
|
|
|
|
NM_001267550.2(TTN):c.46374_46375dup (p.Glu15459fs)
|
rs2154210696
|
|
|
NM_001267550.2(TTN):c.46375G>T (p.Glu15459Ter)
|
|
|
|
NM_001267550.2(TTN):c.46385_46406dup (p.Ala15471fs)
|
|
|
|
NM_001267550.2(TTN):c.46393del (p.Glu15465fs)
|
|
|
|
NM_001267550.2(TTN):c.46397dup (p.Asp15466fs)
|
|
|
|
NM_001267550.2(TTN):c.46399dup (p.Arg15467fs)
|
rs1060500443
|
|
|
NM_001267550.2(TTN):c.46401del (p.Lys15468fs)
|
|
|
|
NM_001267550.2(TTN):c.46407_46410dup (p.Ala15471fs)
|
rs2058029089
|
|
|
NM_001267550.2(TTN):c.46429+1G>T
|
rs2154210677
|
|
|
NM_001267550.2(TTN):c.46429+2T>C
|
|
|
|
NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter)
|
|
|
|
NM_001267550.2(TTN):c.46430-1G>C
|
|
|
|
NM_001267550.2(TTN):c.46430-2A>G
|
|
|
|
NM_001267550.2(TTN):c.46459C>T (p.Gln15487Ter)
|
rs2058001839
|
|
|
NM_001267550.2(TTN):c.46514_46517dup (p.Asp15506fs)
|
|
|
|
NM_001267550.2(TTN):c.46565del (p.Gly15522fs)
|
rs2057989087
|
|
|
NM_001267550.2(TTN):c.46609C>T (p.Gln15537Ter)
|
rs1131691528
|
|
|
NM_001267550.2(TTN):c.46623del (p.Lys15542fs)
|
|
|
|
NM_001267550.2(TTN):c.46637del (p.Gln15546fs)
|
|
|
|
NM_001267550.2(TTN):c.46639_46643dup (p.Tyr15549fs)
|
|
|
|
NM_001267550.2(TTN):c.46653_46656dup (p.Ala15553fs)
|
rs2154210554
|
|
|
NM_001267550.2(TTN):c.46668_46671del (p.Glu15557fs)
|
|
|
|
NM_001267550.2(TTN):c.46696+1G>T
|
rs1064796987
|
|
|
NM_001267550.2(TTN):c.46697-1G>T
|
rs2154209955
|
|
|
NM_001267550.2(TTN):c.46723C>T (p.Gln15575Ter)
|
|
|
|
NM_001267550.2(TTN):c.46724_46725delinsC (p.Gln15575fs)
|
rs1559855146
|
|
|
NM_001267550.2(TTN):c.46736_46745del (p.Val15579fs)
|
|
|
|
NM_001267550.2(TTN):c.46753_46754del (p.Leu15585fs)
|
rs2154209917
|
|
|
NM_001267550.2(TTN):c.46757dup (p.Met15587fs)
|
rs2154209914
|
|
|
NM_001267550.2(TTN):c.46788del (p.Ala15597fs)
|
rs2154209882
|
|
|
NM_001267550.2(TTN):c.46810G>T (p.Glu15604Ter)
|
rs749463044
|
|
|
NM_001267550.2(TTN):c.46810_46814del (p.Lys15603_Glu15604insTer)
|
|
|
|
NM_001267550.2(TTN):c.46816G>T (p.Glu15606Ter)
|
|
|
|
NM_001267550.2(TTN):c.46823del (p.Leu15608fs)
|
rs2154209855
|
|
|
NM_001267550.2(TTN):c.46831_46837dup (p.Ile15613fs)
|
|
|
|
NM_001267550.2(TTN):c.46843dup (p.Thr15615fs)
|
rs1553712292
|
|
|
NM_001267550.2(TTN):c.46855C>T (p.Gln15619Ter)
|
|
|
|
NM_001267550.2(TTN):c.46865del (p.Phe15622fs)
|
|
|
|
NM_001267550.2(TTN):c.46895_46898del (p.Lys15632fs)
|
rs1553712148
|
|
|
NM_001267550.2(TTN):c.46896del (p.Arg15634fs)
|
|
|
|
NM_001267550.2(TTN):c.46905T>A (p.Tyr15635Ter)
|
|
|
|
NM_001267550.2(TTN):c.46939G>T (p.Glu15647Ter)
|
|
|
|
NM_001267550.2(TTN):c.46966+1G>A
|
|
|
|
NM_001267550.2(TTN):c.46967-1G>C
|
|
|
|
NM_001267550.2(TTN):c.46986dup (p.Asn15663Ter)
|
rs2154209578
|
|
|
NM_001267550.2(TTN):c.47000_47001del (p.Thr15667fs)
|
|
|
|
NM_001267550.2(TTN):c.47034G>A (p.Trp15678Ter)
|
|
|
|
NM_001267550.2(TTN):c.47040del (p.Glu15680fs)
|
rs2057734561
|
|
|
NM_001267550.2(TTN):c.47112G>A (p.Trp15704Ter)
|
|
|
|
NM_001267550.2(TTN):c.47142_47143del (p.Cys15714_Glu15715delinsTer)
|
rs869312107
|
|
|
NM_001267550.2(TTN):c.47143_47146dup (p.Phe15716Ter)
|
rs1422071853
|
|
|
NM_001267550.2(TTN):c.47187_47188del (p.Phe15730fs)
|
|
|
|
NM_001267550.2(TTN):c.47195dup (p.Ser15733fs)
|
|
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
|
NM_001267550.2(TTN):c.47269+2T>C
|
rs1060500419
|
|
|
NM_001267550.2(TTN):c.47285del (p.Pro15762fs)
|
|
|
|
NM_001267550.2(TTN):c.47337G>A (p.Trp15779Ter)
|
|
|
|
NM_001267550.2(TTN):c.47379C>A (p.Tyr15793Ter)
|
|
|
|
NM_001267550.2(TTN):c.47379C>G (p.Tyr15793Ter)
|
|
|
|
NM_001267550.2(TTN):c.47384_47385insCT (p.Glu15796fs)
|
|
|
|
NM_001267550.2(TTN):c.47385dup (p.Glu15796Ter)
|
|
|
|
NM_001267550.2(TTN):c.47407del (p.Ile15803fs)
|
rs2154209120
|
|
|
NM_001267550.2(TTN):c.47414G>A (p.Trp15805Ter)
|
|
|
|
NM_001267550.2(TTN):c.47479C>T (p.Gln15827Ter)
|
rs794729261
|
|
|
NM_001267550.2(TTN):c.47486_47498del (p.Glu15828_Tyr15829insTer)
|
|
|
|
NM_001267550.2(TTN):c.47487C>A (p.Tyr15829Ter)
|
rs2057643696
|
|
|
NM_001267550.2(TTN):c.47487_47488del (p.Tyr15829_Ser15830delinsTer)
|
rs1447249014
|
|
|
NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter)
|
rs397517589
|
|
|
NM_001267550.2(TTN):c.47512C>T (p.Arg15838Ter)
|
rs762271078
|
|
|
NM_001267550.2(TTN):c.47572+1G>A
|
|
|
|
NM_001267550.2(TTN):c.47573-1G>A
|
|
|
|
NM_001267550.2(TTN):c.47573-1G>C
|
|
|
|
NM_001267550.2(TTN):c.47576_47577delGA
|
rs1060500489
|
|
|
NM_001267550.2(TTN):c.47579del (p.Pro15860fs)
|
rs2154208767
|
|
|
NM_001267550.2(TTN):c.47606C>G (p.Ser15869Ter)
|
|
|
|
NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter)
|
rs886044009
|
|
|
NM_001267550.2(TTN):c.47639G>A (p.Trp15880Ter)
|
|
|
|
NM_001267550.2(TTN):c.47660_47663del (p.Gly15887fs)
|
|
|
|
NM_001267550.2(TTN):c.47674_47680dup (p.Tyr15894fs)
|
|
|
|
NM_001267550.2(TTN):c.47688del (p.Ile15896fs)
|
|
|
|
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter)
|
rs775186117
|
|
|
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter)
|
rs373040154
|
|
|
NM_001267550.2(TTN):c.47701G>T (p.Glu15901Ter)
|
rs530338718
|
|
|
NM_001267550.2(TTN):c.47708_47709del (p.Lys15903fs)
|
|
|
|
NM_001267550.2(TTN):c.47760+1G>A
|
rs2154208642
|
|
|
NM_001267550.2(TTN):c.47761-2A>T
|
|
|
|
NM_001267550.2(TTN):c.47786_47789del (p.Lys15929fs)
|
rs2154208514
|
|
|
NM_001267550.2(TTN):c.47797A>T (p.Arg15933Ter)
|
rs2057499255
|
|
|
NM_001267550.2(TTN):c.47802_47803dup (p.Ser15935fs)
|
|
|
|
NM_001267550.2(TTN):c.47808del (p.Glu15937fs)
|
|
|
|
NM_001267550.2(TTN):c.47875+1G>A
|
rs869312047
|
|
|
NM_001267550.2(TTN):c.47885dup (p.Met15963fs)
|
rs2057454001
|
|
|
NM_001267550.2(TTN):c.47894T>A (p.Leu15965Ter)
|
rs878982457
|
|
|
NM_001267550.2(TTN):c.47988G>A (p.Trp15996Ter)
|
|
|
|
NM_001267550.2(TTN):c.48002_48006dup (p.Leu16003fs)
|
rs2154208302
|
|
|
NM_001267550.2(TTN):c.48068del (p.Ser16023fs)
|
|
|
|
NM_001267550.2(TTN):c.48110T>A (p.Leu16037Ter)
|
|
|
|
NM_001267550.2(TTN):c.48142del (p.Ile16048fs)
|
|
|
|
NM_001267550.2(TTN):c.48157_48158del (p.Ile16053fs)
|
rs2154208239
|
|
|
NM_001267550.2(TTN):c.48160+1G>A
|
rs779498825
|
|
|
NM_001267550.2(TTN):c.48167del (p.Pro16056fs)
|
rs1443466576
|
|
|
NM_001267550.2(TTN):c.48177del (p.Glu16061fs)
|
|
|
|
NM_001267550.2(TTN):c.48181G>T (p.Glu16061Ter)
|
|
|
|
NM_001267550.2(TTN):c.48223_48227dup (p.Trp16076Ter)
|
|
|
|
NM_001267550.2(TTN):c.48227G>A (p.Trp16076Ter)
|
|
|
|
NM_001267550.2(TTN):c.48227_48229delinsAAA (p.Trp16076_Glu16077delinsTer)
|
rs1553706971
|
|
|
NM_001267550.2(TTN):c.48229del (p.Glu16077fs)
|
|
|
|
NM_001267550.2(TTN):c.48233del (p.Pro16078fs)
|
|
|
|
NM_001267550.2(TTN):c.48247G>T (p.Gly16083Ter)
|
|
|
|
NM_001267550.2(TTN):c.48248_48251del (p.Gly16083fs)
|
|
|
|
NM_001267550.2(TTN):c.48264del (p.Gly16089fs)
|
rs2154208052
|
|
|
NM_001267550.2(TTN):c.48305G>A (p.Trp16102Ter)
|
|
|
|
NM_001267550.2(TTN):c.48306dup (p.Thr16103fs)
|
|
|
|
NM_001267550.2(TTN):c.48312+2T>C
|
rs2057367803
|
|
|
NM_001267550.2(TTN):c.48312+2dup
|
rs776497397
|
|
|
NM_001267550.2(TTN):c.48313-1G>A
|
rs2154207046
|
|
|
NM_001267550.2(TTN):c.48313-2A>G
|
|
|
|
NM_001267550.2(TTN):c.48320_48323dup (p.Phe16108fs)
|
|
|
|
NM_001267550.2(TTN):c.48332_48339delinsTGAT (p.Asp16111fs)
|
|
|
|
NM_001267550.2(TTN):c.48334del (p.Asp16111_Leu16112insTer)
|
|
|
|
NM_001267550.2(TTN):c.4834G>T (p.Glu1612Ter)
|
|
|
|
NM_001267550.2(TTN):c.48368_48369del (p.Lys16123fs)
|
|
|
|
NM_001267550.2(TTN):c.48369dup (p.Glu16124fs)
|
rs1553705557
|
|
|
NM_001267550.2(TTN):c.48379_48382del (p.Phe16127fs)
|
rs1064796347
|
|
|
NM_001267550.2(TTN):c.48400A>T (p.Lys16134Ter)
|
|
|
|
NM_001267550.2(TTN):c.48433G>T (p.Glu16145Ter)
|
|
|
|
NM_001267550.2(TTN):c.48461-1G>A
|
rs2154206288
|
|
|
NM_001267550.2(TTN):c.48461-2A>C
|
rs1553705079
|
|
|
NM_001267550.2(TTN):c.48489del (p.Lys16163fs)
|
|
|
|
NM_001267550.2(TTN):c.48499C>T (p.Arg16167Ter)
|
rs1312425985
|
|
|
NM_001267550.2(TTN):c.48502del (p.Thr16168fs)
|
|
|
|
NM_001267550.2(TTN):c.48521T>G (p.Leu16174Ter)
|
|
|
|
NM_001267550.2(TTN):c.48542dup (p.Asn16181fs)
|
rs1576472316
|
|
|
NM_001267550.2(TTN):c.48550_48553dup (p.Ser16185fs)
|
rs2154205990
|
|
|
NM_001267550.2(TTN):c.48571_48573delinsT (p.Ile16191fs)
|
|
|
|
NM_001267550.2(TTN):c.48605G>A (p.Trp16202Ter)
|
|
|
|
NM_001267550.2(TTN):c.48606G>A (p.Trp16202Ter)
|
|
|
|
NM_001267550.2(TTN):c.48629del (p.Ala16210fs)
|
rs2057135958
|
|
|
NM_001267550.2(TTN):c.48634del (p.Thr16212fs)
|
rs2154205763
|
|
|
NM_001267550.2(TTN):c.48638+1G>C
|
|
|
|
NM_001267550.2(TTN):c.48638+1del
|
|
|
|
NM_001267550.2(TTN):c.48638+2T>C
|
|
|
|
NM_001267550.2(TTN):c.48639-2A>C
|
|
|
|
NM_001267550.2(TTN):c.48661G>T (p.Glu16221Ter)
|
|
|
|
NM_001267550.2(TTN):c.48672G>A (p.Trp16224Ter)
|
|
|
|
NM_001267550.2(TTN):c.48698dup (p.Asn16233fs)
|
rs2057026455
|
|
|
NM_001267550.2(TTN):c.48757_48758dup (p.Gln16253fs)
|
|
|
|
NM_001267550.2(TTN):c.48759del (p.Glu16254fs)
|
rs2057015875
|
|
|
NM_001267550.2(TTN):c.48760+1G>A
|
|
|
|
NM_001267550.2(TTN):c.48760+1G>C
|
|
|
|
NM_001267550.2(TTN):c.48760+1G>T
|
|
|
|
NM_001267550.2(TTN):c.48760+2T>C
|
|
|
|
NM_001267550.2(TTN):c.48760G>T (p.Glu16254Ter)
|
|
|
|
NM_001267550.2(TTN):c.48767dup (p.Glu16257fs)
|
|
|
|
NM_001267550.2(TTN):c.48808_48809del (p.Val16270fs)
|
|
|
|
NM_001267550.2(TTN):c.4880G>A (p.Trp1627Ter)
|
rs767755367
|
|
|
NM_001267550.2(TTN):c.48832del (p.Leu16278fs)
|
|
|
|
NM_001267550.2(TTN):c.48902del (p.Gln16301fs)
|
|
|
|
NM_001267550.2(TTN):c.48913_48916dup (p.Thr16306fs)
|
|
|
|
NM_001267550.2(TTN):c.48930_48937del (p.Pro16311fs)
|
|
|
|
NM_001267550.2(TTN):c.48963_48966del (p.Ser16321fs)
|
rs1553703310
|
|
|
NM_001267550.2(TTN):c.489dup (p.Ala164fs)
|
rs1574990483
|
|
|
NM_001267550.2(TTN):c.49004dup (p.Asn16335fs)
|
rs1576461647
|
|
|
NM_001267550.2(TTN):c.49011_49012del (p.Cys16337fs)
|
|
|
|
NM_001267550.2(TTN):c.49048+1G>A
|
|
|
|
NM_001267550.2(TTN):c.49049-1G>C
|
rs868064056
|
|
|
NM_001267550.2(TTN):c.49049-2A>C
|
|
|
|
NM_001267550.2(TTN):c.49101_49102del (p.Cys16368fs)
|
rs1576457869
|
|
|
NM_001267550.2(TTN):c.4910del (p.Gly1637fs)
|
rs886044013
|
|
|
NM_001267550.2(TTN):c.49157_49158insACCACAAACTA (p.Tyr16386Ter)
|
|
|
|
NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter)
|
rs570046043
|
|
|
NM_001267550.2(TTN):c.49187_49191dup (p.Trp16398fs)
|
|
|
|
NM_001267550.2(TTN):c.49226_49227insTTAATCCCCAATAAAGATTGGTGG (p.Asn16409_Phe16410insTer)
|
|
|
|
NM_001267550.2(TTN):c.49345+1G>T
|
|
|
|
NM_001267550.2(TTN):c.49345+2T>C
|
rs1559805633
|
|
|
NM_001267550.2(TTN):c.49346-1G>A
|
rs869312070
|
|
|
NM_001267550.2(TTN):c.49413G>A (p.Trp16471Ter)
|
rs202094100
|
|
|
NM_001267550.2(TTN):c.49455C>G (p.Tyr16485Ter)
|
|
|
|
NM_001267550.2(TTN):c.49500C>A (p.Cys16500Ter)
|
|
|
|
NM_001267550.2(TTN):c.49525dup (p.Thr16509fs)
|
rs2154201255
|
|
|
NM_001267550.2(TTN):c.49532+1G>A
|
|
|
|
NM_001267550.2(TTN):c.49533-1G>C
|
|
|
|
NM_001267550.2(TTN):c.49533-2A>G
|
|
|
|
NM_001267550.2(TTN):c.49548dup (p.Asn16517Ter)
|
|
|
|
NM_001267550.2(TTN):c.49586dup (p.Asn16529fs)
|
|
|
|
NM_001267550.2(TTN):c.49608_49609dup (p.Ser16537fs)
|
|
|
|
NM_001267550.2(TTN):c.49648+1G>A
|
|
|
|
NM_001267550.2(TTN):c.49648+1G>T
|
|
|
|
NM_001267550.2(TTN):c.49649-2A>T
|
rs2154200803
|
|
|
NM_001267550.2(TTN):c.49666G>T (p.Gly16556Ter)
|
|
|
|
NM_001267550.2(TTN):c.49685del (p.Asp16562fs)
|
|
|
|
NM_001267550.2(TTN):c.49700C>A (p.Ser16567Ter)
|
|
|
|
NM_001267550.2(TTN):c.49749dup (p.Glu16584Ter)
|
rs2056619632
|
|
|
NM_001267550.2(TTN):c.49757_49758insATAA (p.Tyr16586Ter)
|
|
|
|
NM_001267550.2(TTN):c.49758T>G (p.Tyr16586Ter)
|
rs72677247
|
|
|
NM_001267550.2(TTN):c.4978_4979del (p.Leu1660fs)
|
|
|
|
NM_001267550.2(TTN):c.49793G>A (p.Trp16598Ter)
|
|
|
|
NM_001267550.2(TTN):c.49794G>A (p.Trp16598Ter)
|
|
|
|
NM_001267550.2(TTN):c.4979T>G (p.Leu1660Ter)
|
|
|
|
NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter)
|
rs1553699454
|
|
|
NM_001267550.2(TTN):c.49863C>A (p.Tyr16621Ter)
|
rs1553699440
|
|
|
NM_001267550.2(TTN):c.49863C>G (p.Tyr16621Ter)
|
rs794729264
|
|
|
NM_001267550.2(TTN):c.49874_49877dup (p.Arg16626delinsSerTer)
|
rs2056596896
|
|
|
NM_001267550.2(TTN):c.49948+2_49948+10del
|
rs2056581815
|
|
|
NM_001267550.2(TTN):c.49949-1G>T
|
|
|
|
NM_001267550.2(TTN):c.49949-2A>T
|
|
|
|
NM_001267550.2(TTN):c.49958C>G (p.Ser16653Ter)
|
rs746669146
|
|
|
NM_001267550.2(TTN):c.4995del (p.Thr1666fs)
|
rs2154346335
|
|
|
NM_001267550.2(TTN):c.49964del (p.Pro16655fs)
|
|
|
|
NM_001267550.2(TTN):c.49970G>A (p.Trp16657Ter)
|
rs2154200456
|
|
|
NM_001267550.2(TTN):c.49997dup (p.Asn16666fs)
|
|
|
|
NM_001267550.2(TTN):c.50016G>A (p.Trp16672Ter)
|
rs2154200433
|
|
|
NM_001267550.2(TTN):c.50069del (p.Lys16690fs)
|
rs1064796139
|
|
|
NM_001267550.2(TTN):c.50074_50075del (p.Asp16692fs)
|
rs1060500513
|
|
|
NM_001267550.2(TTN):c.50094G>A (p.Trp16698Ter)
|
|
|
|
NM_001267550.2(TTN):c.50095C>T (p.Gln16699Ter)
|
rs2056504499
|
|
|
NM_001267550.2(TTN):c.50098dup (p.Thr16700fs)
|
|
|
|
NM_001267550.2(TTN):c.50110_50111del (p.Thr16704fs)
|
|
|
|
NM_001267550.2(TTN):c.50163T>G (p.Tyr16721Ter)
|
|
|
|
NM_001267550.2(TTN):c.501C>G (p.Tyr167Ter)
|
|
|
|
NM_001267550.2(TTN):c.50212G>T (p.Glu16738Ter)
|
|
|
|
NM_001267550.2(TTN):c.50228_50229del (p.Val16743fs)
|
|
|
|
NM_001267550.2(TTN):c.50281_50284del (p.Val16761fs)
|
|
|
|
NM_001267550.2(TTN):c.50316G>A (p.Trp16772Ter)
|
rs1433307898
|
|
|
NM_001267550.2(TTN):c.50353A>T (p.Arg16785Ter)
|
|
|
|
NM_001267550.2(TTN):c.50358T>A (p.Tyr16786Ter)
|
rs72677249
|
|
|
NM_001267550.2(TTN):c.50375_50378del (p.Glu16792fs)
|
|
|
|
NM_001267550.2(TTN):c.50467C>T (p.Gln16823Ter)
|
|
|
|
NM_001267550.2(TTN):c.50467_50468del (p.Gln16823fs)
|
|
|
|
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter)
|
rs587780490
|
|
|
NM_001267550.2(TTN):c.50487_50490dup (p.Glu16831delinsLysTer)
|
rs1553696967
|
|
|
NM_001267550.2(TTN):c.50552-1G>A
|
|
|
|
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter)
|
rs397517601
|
|
|
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter)
|
rs2056330918
|
|
|
NM_001267550.2(TTN):c.50661C>G (p.Tyr16887Ter)
|
|
|
|
NM_001267550.2(TTN):c.50692A>T (p.Lys16898Ter)
|
|
|
|
NM_001267550.2(TTN):c.50723del (p.Lys16908fs)
|
|
|
|
NM_001267550.2(TTN):c.5073dup (p.Gly1692fs)
|
|
|
|
NM_001267550.2(TTN):c.50746G>T (p.Glu16916Ter)
|
|
|
|
NM_001267550.2(TTN):c.50746del (p.Glu16916fs)
|
|
|
|
NM_001267550.2(TTN):c.50766del (p.Glu16923fs)
|
|
|
|
NM_001267550.2(TTN):c.50767G>T (p.Glu16923Ter)
|
|
|
|
NM_001267550.2(TTN):c.50779_50782del (p.Leu16926_Arg16927insTer)
|
|
|
|
NM_001267550.2(TTN):c.50787_50788del (p.Arg16929fs)
|
|
|
|
NM_001267550.2(TTN):c.50857+1G>A
|
rs2154199718
|
|
|
NM_001267550.2(TTN):c.50858-2A>C
|
|
|
|
NM_001267550.2(TTN):c.50859C>A (p.Cys16953Ter)
|
rs2154199623
|
|
|
NM_001267550.2(TTN):c.50860A>T (p.Lys16954Ter)
|
rs794729268
|
|
|
NM_001267550.2(TTN):c.50896_50897del (p.Val16966fs)
|
|
|
|
NM_001267550.2(TTN):c.50914_50918del (p.Leu16972fs)
|
rs2056249919
|
|
|
NM_001267550.2(TTN):c.5092G>T (p.Glu1698Ter)
|
|
|
|
NM_001267550.2(TTN):c.50983_50986dup (p.Lys16996delinsSerTer)
|
|
|
|
NM_001267550.2(TTN):c.50992del (p.Ser16998fs)
|
|
|
|
NM_001267550.2(TTN):c.50994_50997dup (p.Arg17000Ter)
|
rs1413836585
|
|
|
NM_001267550.2(TTN):c.51037G>T (p.Glu17013Ter)
|
rs1060500500
|
|
|
NM_001267550.2(TTN):c.51060dup (p.Asp17021fs)
|
rs2154199483
|
|
|
NM_001267550.2(TTN):c.51136+1G>A
|
|
|
|
NM_001267550.2(TTN):c.51136+1del
|
rs2154199433
|
|
|
NM_001267550.2(TTN):c.51193A>T (p.Lys17065Ter)
|
|
|
|
NM_001267550.2(TTN):c.51203_51224dup (p.Thr17077_Pro17078insSerArgIleTerGlyThr)
|
rs2154198963
|
|
|
NM_001267550.2(TTN):c.51229_51230del (p.Thr17077fs)
|
rs2056008282
|
|
|
NM_001267550.2(TTN):c.51234_51237dup (p.Leu17080fs)
|
rs1553693444
|
|
|
NM_001267550.2(TTN):c.51284_51285dup (p.Pro17096fs)
|
|
|
|
NM_001267550.2(TTN):c.51317G>A (p.Trp17106Ter)
|
|
|
|
NM_001267550.2(TTN):c.51318G>A (p.Trp17106Ter)
|
|
|
|
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter)
|
rs906494713
|
|
|
NM_001267550.2(TTN):c.51444del (p.Asp17149fs)
|
rs1362409861
|
|
|
NM_001267550.2(TTN):c.51449del (p.Pro17150fs)
|
rs2055912067
|
|
|
NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs)
|
rs886043718
|
|
|
NM_001267550.2(TTN):c.51524dup (p.Gly17176fs)
|
|
|
|
NM_001267550.2(TTN):c.51525del (p.Ser17177fs)
|
rs1553692435
|
|
|
NM_001267550.2(TTN):c.51544_51545del (p.Tyr17182fs)
|
|
|
|
NM_001267550.2(TTN):c.51574G>T (p.Glu17192Ter)
|
|
|
|
NM_001267550.2(TTN):c.51576_51577del (p.Arg17193fs)
|
rs2154198710
|
|
|
NM_001267550.2(TTN):c.51624_51654dup (p.Gln17219delinsSerLysArgThrTer)
|
rs1553692107
|
|
|
NM_001267550.2(TTN):c.51648del (p.Glu17217fs)
|
rs1553692140
|
|
|
NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter)
|
rs1060500503
|
|
|
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter)
|
rs748956593
|
|
|
NM_001267550.2(TTN):c.5172C>A (p.Cys1724Ter)
|
rs2154346258
|
|
|
NM_001267550.2(TTN):c.51739+1G>C
|
rs727504799
|
|
|
NM_001267550.2(TTN):c.51769del (p.Ser17256_Leu17257insTer)
|
|
|
|
NM_001267550.2(TTN):c.51782del (p.Arg17261fs)
|
rs2154198520
|
|
|
NM_001267550.2(TTN):c.51786del (p.Asp17263fs)
|
|
|
|
NM_001267550.2(TTN):c.51804_51805insCCAGTGCTATG (p.Ala17269fs)
|
rs2154198510
|
|
|
NM_001267550.2(TTN):c.51814del (p.Ser17272fs)
|
|
|
|
NM_001267550.2(TTN):c.51833_51848del (p.Thr17278fs)
|
rs794729391
|
|
|
NM_001267550.2(TTN):c.51834_51838dup (p.Thr17280fs)
|
rs2154198494
|
|
|
NM_001267550.2(TTN):c.51843G>A (p.Trp17281Ter)
|
rs1559759828
|
|
|
NM_001267550.2(TTN):c.51870del (p.Glu17291fs)
|
rs1553691320
|
|
|
NM_001267550.2(TTN):c.51871G>T (p.Glu17291Ter)
|
|
|
|
NM_001267550.2(TTN):c.51897del (p.Leu17300fs)
|
|
|
|
NM_001267550.2(TTN):c.51913A>T (p.Lys17305Ter)
|
|
|
|
NM_001267550.2(TTN):c.51913_51916del (p.Lys17305fs)
|
rs747513278
|
|
|
NM_001267550.2(TTN):c.51919G>T (p.Glu17307Ter)
|
rs2154198436
|
|
|
NM_001267550.2(TTN):c.51925C>T (p.Gln17309Ter)
|
|
|
|
NM_001267550.2(TTN):c.51931del (p.Glu17311fs)
|
|
|
|
NM_001267550.2(TTN):c.51958C>T (p.Gln17320Ter)
|
rs2055753321
|
|
|
NM_001267550.2(TTN):c.51965dup (p.Leu17322fs)
|
|
|
|
NM_001267550.2(TTN):c.51967_51968del (p.Ser17323fs)
|
|
|
|
NM_001267550.2(TTN):c.51985A>T (p.Lys17329Ter)
|
|
|
|
NM_001267550.2(TTN):c.52041T>A (p.Tyr17347Ter)
|
|
|
|
NM_001267550.2(TTN):c.5204del (p.Val1735fs)
|
|
|
|
NM_001267550.2(TTN):c.52063_52064insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATNNNNNNNNNNNNGAAAATGACC (p.Asp17354_His17355insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspXaaXaaXaaXaaGluAsnAsp)
|
rs2154198326
|
|
|
NM_001267550.2(TTN):c.52077A>T (p.Lys17359Asn)
|
rs1167384081
|
|
|
NM_001267550.2(TTN):c.52103-1G>A
|
rs2154197995
|
|
|
NM_001267550.2(TTN):c.52150dup (p.Thr17384fs)
|
rs2154197954
|
|
|
NM_001267550.2(TTN):c.52226_52227del (p.Lys17409fs)
|
rs2055549415
|
|
|
NM_001267550.2(TTN):c.52226_52229del (p.Lys17409fs)
|
rs727503615
|
|
|
NM_001267550.2(TTN):c.52233_52237del (p.Lys17413fs)
|
rs2055544893
|
|
|
NM_001267550.2(TTN):c.52316_52317dup (p.Glu17440fs)
|
|
|
|
NM_001267550.2(TTN):c.52317dup (p.Glu17440fs)
|
|
|
|
NM_001267550.2(TTN):c.52330del (p.Arg17444fs)
|
|
|
|
NM_001267550.2(TTN):c.52358del (p.Pro17453fs)
|
rs2154197774
|
|
|
NM_001267550.2(TTN):c.52405+1G>T
|
|
|
|
NM_001267550.2(TTN):c.52405+2T>C
|
|
|
|
NM_001267550.2(TTN):c.52424_52425insCT (p.Lys17476fs)
|
|
|
|
NM_001267550.2(TTN):c.52443_52444insAA (p.Val17482fs)
|
|
|
|
NM_001267550.2(TTN):c.52472G>A (p.Trp17491Ter)
|
|
|
|
NM_001267550.2(TTN):c.52473G>A (p.Trp17491Ter)
|
rs794729271
|
|
|
NM_001267550.2(TTN):c.52499_52504delinsAGTAA (p.Pro17500_Leu17502delinsGlnTer)
|
rs1559748217
|
|
|
NM_001267550.2(TTN):c.52512C>G (p.Tyr17504Ter)
|
rs1559748120
|
|
|
NM_001267550.2(TTN):c.52525del (p.Arg17509fs)
|
|
|
|
NM_001267550.2(TTN):c.52546del (p.Trp17516fs)
|
|
|
|
NM_001267550.2(TTN):c.52547G>A (p.Trp17516Ter)
|
|
|
|
NM_001267550.2(TTN):c.52551del (p.Arg17518fs)
|
|
|
|
NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer)
|
rs1064792915
|
|
|
NM_001267550.2(TTN):c.52601T>A (p.Leu17534Ter)
|
rs1559746821
|
|
|
NM_001267550.2(TTN):c.52604T>G (p.Leu17535Ter)
|
|
|
|
NM_001267550.2(TTN):c.52619_52620del (p.Tyr17540fs)
|
|
|
|
NM_001267550.2(TTN):c.5262del (p.Asn1755fs)
|
|
|
|
NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)
|
|
|
|
NM_001267550.2(TTN):c.52705+1G>A
|
|
|
|
NM_001267550.2(TTN):c.52706-1G>C
|
rs2055351447
|
|
|
NM_001267550.2(TTN):c.52706-1G>T
|
|
|
|
NM_001267550.2(TTN):c.52712_52713del (p.Pro17571fs)
|
|
|
|
NM_001267550.2(TTN):c.52731_52732del (p.Arg17577fs)
|
rs878854315
|
|
|
NM_001267550.2(TTN):c.52736del (p.Thr17579fs)
|
rs2154197312
|
|
|
NM_001267550.2(TTN):c.52758_52759insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCTCTACAACTATT (p.Glu17587fs)
|
|
|
|
NM_001267550.2(TTN):c.52767dup (p.Trp17590fs)
|
rs2154197298
|
|
|
NM_001267550.2(TTN):c.52778del (p.Pro17593fs)
|
|
|
|
NM_001267550.2(TTN):c.52801del (p.Ile17601fs)
|
rs2154197283
|
|
|
NM_001267550.2(TTN):c.52825del (p.Gln17609fs)
|
rs2055323171
|
|
|
NM_001267550.2(TTN):c.52847G>A (p.Trp17616Ter)
|
rs2055319182
|
|
|
NM_001267550.2(TTN):c.52857C>A (p.Cys17619Ter)
|
rs1057520724
|
|
|
NM_001267550.2(TTN):c.52894A>T (p.Lys17632Ter)
|
|
|
|
NM_001267550.2(TTN):c.52924_52930dup (p.Val17644fs)
|
rs2055292474
|
|
|
NM_001267550.2(TTN):c.52971_52974dup (p.Gln17659fs)
|
|
|
|
NM_001267550.2(TTN):c.52975C>T (p.Gln17659Ter)
|
rs2154197188
|
|
|
NM_001267550.2(TTN):c.53003-1G>C
|
rs2154197076
|
|
|
NM_001267550.2(TTN):c.53012_53030del (p.Ala17671fs)
|
|
|
|
NM_001267550.2(TTN):c.53026_53027del (p.Val17676fs)
|
|
|
|
NM_001267550.2(TTN):c.53041G>T (p.Gly17681Ter)
|
|
|
|
NM_001267550.2(TTN):c.53047C>T (p.Gln17683Ter)
|
rs2154197059
|
|
|
NM_001267550.2(TTN):c.53063_53066del (p.Lys17688fs)
|
|
|
|
NM_001267550.2(TTN):c.53068_53069del (p.Thr17689_Leu17690insTer)
|
rs2154197040
|
|
|
NM_001267550.2(TTN):c.53118G>A (p.Trp17706Ter)
|
|
|
|
NM_001267550.2(TTN):c.53182G>T (p.Glu17728Ter)
|
|
|
|
NM_001267550.2(TTN):c.53206C>T (p.Arg17736Ter)
|
rs571702144
|
|
|
NM_001267550.2(TTN):c.53259del (p.Lys17753fs)
|
rs1389777522
|
|
|
NM_001267550.2(TTN):c.53287+1G>A
|
rs1064794266
|
|
|
NM_001267550.2(TTN):c.53287+2T>A
|
|
|
|
NM_001267550.2(TTN):c.53315_53316del (p.Lys17772fs)
|
rs2154196835
|
|
|
NM_001267550.2(TTN):c.53354G>A (p.Trp17785Ter)
|
|
|
|
NM_001267550.2(TTN):c.53359del (p.Asp17787fs)
|
rs2055103568
|
|
|
NM_001267550.2(TTN):c.53374G>T (p.Gly17792Ter)
|
rs2055101555
|
|
|
NM_001267550.2(TTN):c.53412del (p.Asp17805fs)
|
|
|
|
NM_001267550.2(TTN):c.53456_53457del (p.Arg17819fs)
|
|
|
|
NM_001267550.2(TTN):c.53526del (p.Lys17842fs)
|
rs2154196732
|
|
|
NM_001267550.2(TTN):c.53564_53581+6del
|
|
|
|
NM_001267550.2(TTN):c.53581+1del
|
|
|
|
NM_001267550.2(TTN):c.53582-1G>A
|
rs2054612323
|
|
|
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter)
|
rs1131691381
|
|
|
NM_001267550.2(TTN):c.53602_53603del (p.Arg17868fs)
|
|
|
|
NM_001267550.2(TTN):c.53616del (p.Glu17873fs)
|
|
|
|
NM_001267550.2(TTN):c.53648G>A (p.Trp17883Ter)
|
rs1171413936
|
|
|
NM_001267550.2(TTN):c.53703dup (p.Arg17902fs)
|
rs1576340321
|
|
|
NM_001267550.2(TTN):c.53770del (p.Val17924fs)
|
rs1559723763
|
|
|
NM_001267550.2(TTN):c.53789_53790del (p.His17930fs)
|
|
|
|
NM_001267550.2(TTN):c.53791C>T (p.Gln17931Ter)
|
|
|
|
NM_001267550.2(TTN):c.53824G>T (p.Glu17942Ter)
|
rs2054564830
|
|
|
NM_001267550.2(TTN):c.53831del (p.Gly17944fs)
|
|
|
|
NM_001267550.2(TTN):c.53848dup (p.Leu17950fs)
|
rs1553682760
|
|
|
NM_001267550.2(TTN):c.53914C>T (p.Arg17972Ter)
|
|
|
|
NM_001267550.2(TTN):c.53922del (p.Asp17974fs)
|
|
|
|
NM_001267550.2(TTN):c.5395dup (p.Ser1799fs)
|
rs1064796474
|
|
|
NM_001267550.2(TTN):c.53997dup (p.Trp18000fs)
|
|
|
|
NM_001267550.2(TTN):c.54023_54024insC (p.Glu18008fs)
|
|
|
|
NM_001267550.2(TTN):c.54037del (p.Ala18013fs)
|
|
|
|
NM_001267550.2(TTN):c.54118_54137del (p.Lys18040fs)
|
|
|
|
NM_001267550.2(TTN):c.54131_54132del (p.Thr18044fs)
|
|
|
|
NM_001267550.2(TTN):c.5413C>T (p.Gln1805Ter)
|
|
|
|
NM_001267550.2(TTN):c.54153dup (p.Gly18052fs)
|
|
|
|
NM_001267550.2(TTN):c.54204dup (p.Pro18069fs)
|
|
|
|
NM_001267550.2(TTN):c.54228del (p.Asp18076fs)
|
|
|
|
NM_001267550.2(TTN):c.54257G>A (p.Trp18086Ter)
|
rs2154195201
|
|
|
NM_001267550.2(TTN):c.54314_54381+139delinsATAAGG
|
rs1576327348
|
|
|
NM_001267550.2(TTN):c.54320dup (p.Ser18108fs)
|
rs2054384043
|
|
|
NM_001267550.2(TTN):c.54342G>A (p.Trp18114Ter)
|
|
|
|
NM_001267550.2(TTN):c.54378T>A (p.Tyr18126Ter)
|
rs769624146
|
|
|
NM_001267550.2(TTN):c.54386G>A (p.Trp18129Ter)
|
|
|
|
NM_001267550.2(TTN):c.54387G>A (p.Trp18129Ter)
|
rs1576323463
|
|
|
NM_001267550.2(TTN):c.54392_54393dup (p.Ile18132fs)
|
|
|
|
NM_001267550.2(TTN):c.54427del (p.Ala18143fs)
|
|
|
|
NM_001267550.2(TTN):c.54441T>A (p.Tyr18147Ter)
|
|
|
|
NM_001267550.2(TTN):c.5446del (p.Ile1816fs)
|
|
|
|
NM_001267550.2(TTN):c.54471_54474dup (p.Val18159fs)
|
|
|
|
NM_001267550.2(TTN):c.54481C>T (p.Gln18161Ter)
|
rs2054207747
|
|
|
NM_001267550.2(TTN):c.54500_54509del (p.Pro18167fs)
|
|
|
|
NM_001267550.2(TTN):c.54514A>T (p.Lys18172Ter)
|
|
|
|
NM_001267550.2(TTN):c.54529del (p.Ala18177fs)
|
|
|
|
NM_001267550.2(TTN):c.54560G>A (p.Trp18187Ter)
|
rs794729274
|
|
|
NM_001267550.2(TTN):c.54588_54589del (p.Pro18197fs)
|
|
|
|
NM_001267550.2(TTN):c.54594dup (p.Thr18199fs)
|
|
|
|
NM_001267550.2(TTN):c.54605G>A (p.Trp18202Ter)
|
rs2154194712
|
|
|
NM_001267550.2(TTN):c.54620_54624del (p.Glu18207fs)
|
rs2054170313
|
|
|
NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter)
|
rs397517620
|
|
|
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter)
|
rs727503602
|
|
|
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)
|
|
|
|
NM_001267550.2(TTN):c.54694_54695insGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGGCGTGGAATTTA (p.Asn18232delinsArgGluGluProArgTrpProAsnArgAsnSerSerGlyLeuGlnLeuProAlaTer)
|
|
|
|
NM_001267550.2(TTN):c.5477del (p.Gly1826fs)
|
rs2154346135
|
|
|
NM_001267550.2(TTN):c.54793del (p.Val18265fs)
|
rs2154194616
|
|
|
NM_001267550.2(TTN):c.54809dup (p.Phe18271fs)
|
rs1553679072
|
|
|
NM_001267550.2(TTN):c.54811+1G>A
|
rs1205836993
|
|
|
NM_001267550.2(TTN):c.54812-1G>C
|
|
|
|
NM_001267550.2(TTN):c.54812-1G>T
|
rs1416873295
|
|
|
NM_001267550.2(TTN):c.54856A>T (p.Lys18286Ter)
|
|
|
|
NM_001267550.2(TTN):c.54859_54863dup (p.Ile18289fs)
|
|
|
|
NM_001267550.2(TTN):c.54957G>A (p.Trp18319Ter)
|
rs2053697356
|
|
|
NM_001267550.2(TTN):c.54985dup (p.Ile18329fs)
|
|
|
|
NM_001267550.2(TTN):c.54999dup (p.Cys18334fs)
|
|
|
|
NM_001267550.2(TTN):c.55036A>T (p.Arg18346Ter)
|
rs2053680009
|
|
|
NM_001267550.2(TTN):c.55117C>T (p.Gln18373Ter)
|
rs2053658622
|
|
|
NM_001267550.2(TTN):c.55119del (p.Glu18374fs)
|
rs2154193527
|
|
|
NM_001267550.2(TTN):c.55120_55120+3del
|
|
|
|
NM_001267550.2(TTN):c.55121-1G>A
|
rs1576297857
|
|
|
NM_001267550.2(TTN):c.55129_55130insC (p.Glu18377fs)
|
rs2154193431
|
|
|
NM_001267550.2(TTN):c.55153C>T (p.Gln18385Ter)
|
rs1559696193
|
|
|
NM_001267550.2(TTN):c.55156_55165del (p.Asp18386fs)
|
rs1553674975
|
|
|
NM_001267550.2(TTN):c.55168del (p.Cys18390fs)
|
|
|
|
NM_001267550.2(TTN):c.55173dup (p.Ala18392fs)
|
rs2154193411
|
|
|
NM_001267550.2(TTN):c.5519del (p.Lys1840fs)
|
|
|
|
NM_001267550.2(TTN):c.55202dup (p.Ile18402fs)
|
|
|
|
NM_001267550.2(TTN):c.55235G>A (p.Trp18412Ter)
|
rs2053599652
|
|
|
NM_001267550.2(TTN):c.55269+1del
|
rs2154193352
|
|
|
NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter)
|
rs1440093502
|
|
|
NM_001267550.2(TTN):c.55366_55372dup (p.Ser18458fs)
|
|
|
|
NM_001267550.2(TTN):c.55399C>T (p.Gln18467Ter)
|
rs2154193077
|
|
|
NM_001267550.2(TTN):c.55403dup (p.Thr18469fs)
|
|
|
|
NM_001267550.2(TTN):c.55425dup (p.Val18476fs)
|
|
|
|
NM_001267550.2(TTN):c.55432+1G>A
|
rs2053485503
|
|
|
NM_001267550.2(TTN):c.55432+1G>T
|
|
|
|
NM_001267550.2(TTN):c.55460_55461del (p.Lys18487fs)
|
rs1064796230
|
|
|
NM_001267550.2(TTN):c.55541_55542del (p.Tyr18514fs)
|
rs1218695159
|
|
|
NM_001267550.2(TTN):c.55578G>A (p.Trp18526Ter)
|
|
|
|
NM_001267550.2(TTN):c.55639C>T (p.Gln18547Ter)
|
rs2053403381
|
|
|
NM_001267550.2(TTN):c.55652del (p.Phe18551fs)
|
|
|
|
NM_001267550.2(TTN):c.55719del (p.Arg18574fs)
|
rs2154192801
|
|
|
NM_001267550.2(TTN):c.55728del (p.Ile18577fs)
|
|
|
|
NM_001267550.2(TTN):c.55734T>A (p.Tyr18578Ter)
|
rs2154192691
|
|
|
NM_001267550.2(TTN):c.55755dup (p.Leu18586fs)
|
rs2154192678
|
|
|
NM_001267550.2(TTN):c.55796C>A (p.Ser18599Ter)
|
rs2053315643
|
|
|
NM_001267550.2(TTN):c.55800G>A (p.Trp18600Ter)
|
rs727503598
|
|
|
NM_001267550.2(TTN):c.55802_55803del (p.Lys18601fs)
|
|
|
|
NM_001267550.2(TTN):c.55808dup (p.Lys18604fs)
|
|
|
|
NM_001267550.2(TTN):c.55837del (p.His18613fs)
|
|
|
|
NM_001267550.2(TTN):c.55884_55887del (p.Glu18629fs)
|
rs2154192604
|
|
|
NM_001267550.2(TTN):c.55885G>T (p.Glu18629Ter)
|
|
|
|
NM_001267550.2(TTN):c.55892G>A (p.Trp18631Ter)
|
|
|
|
NM_001267550.2(TTN):c.55927C>T (p.Gln18643Ter)
|
|
|
|
NM_001267550.2(TTN):c.55972C>T (p.Arg18658Ter)
|
rs764985774
|
|
|
NM_001267550.2(TTN):c.5601C>A (p.Tyr1867Ter)
|
|
|
|
NM_001267550.2(TTN):c.56040dup (p.Asp18681fs)
|
|
|
|
NM_001267550.2(TTN):c.56050+1G>A
|
|
|
|
NM_001267550.2(TTN):c.56052C>A (p.Cys18684Ter)
|
|
|
|
NM_001267550.2(TTN):c.56064del (p.Ile18688fs)
|
|
|
|
NM_001267550.2(TTN):c.56089G>T (p.Glu18697Ter)
|
rs1391010387
|
|
|
NM_001267550.2(TTN):c.56122del (p.Ile18708fs)
|
rs2154191490
|
|
|
NM_001267550.2(TTN):c.56129dup (p.Val18711fs)
|
|
|
|
NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter)
|
rs1477101279
|
|
|
NM_001267550.2(TTN):c.56190dup (p.Pro18731fs)
|
|
|
|
NM_001267550.2(TTN):c.56200_56215dup (p.Asn18739delinsIleTer)
|
|
|
|
NM_001267550.2(TTN):c.5622del (p.Trp1874fs)
|
|
|
|
NM_001267550.2(TTN):c.56257C>T (p.Gln18753Ter)
|
rs1559669986
|
|
|
NM_001267550.2(TTN):c.56275_56276dup (p.Gly18760fs)
|
|
|
|
NM_001267550.2(TTN):c.56286dup (p.Thr18763fs)
|
rs2154191397
|
|
|
NM_001267550.2(TTN):c.56287_56288dup (p.Ile18764fs)
|
|
|
|
NM_001267550.2(TTN):c.56347+1G>A
|
rs1576251664
|
|
|
NM_001267550.2(TTN):c.56347+31_56395del
|
|
|
|
NM_001267550.2(TTN):c.56348-1G>A
|
rs2052685102
|
|
|
NM_001267550.2(TTN):c.56387_56388del (p.Ser18796fs)
|
|
|
|
NM_001267550.2(TTN):c.56401C>T (p.Gln18801Ter)
|
|
|
|
NM_001267550.2(TTN):c.56417G>A (p.Trp18806Ter)
|
rs2154191239
|
|
|
NM_001267550.2(TTN):c.56459dup (p.Tyr18820Ter)
|
|
|
|
NM_001267550.2(TTN):c.56472_56473del (p.Glu18826fs)
|
|
|
|
NM_001267550.2(TTN):c.56487del (p.Lys18830fs)
|
|
|
|
NM_001267550.2(TTN):c.56495G>A (p.Trp18832Ter)
|
rs1576247054
|
|
|
NM_001267550.2(TTN):c.56560G>T (p.Glu18854Ter)
|
|
|
|
NM_001267550.2(TTN):c.56564_56576del (p.Tyr18855fs)
|
rs1294679653
|
|
|
NM_001267550.2(TTN):c.56567dup (p.Phe18857fs)
|
|
|
|
NM_001267550.2(TTN):c.56584C>T (p.Gln18862Ter)
|
|
|
|
NM_001267550.2(TTN):c.56598del (p.Ile18867fs)
|
rs1553664644
|
|
|
NM_001267550.2(TTN):c.56645del (p.Phe18882fs)
|
rs2052619475
|
|
|
NM_001267550.2(TTN):c.56647+1G>A
|
rs397517624
|
|
|
NM_001267550.2(TTN):c.56675_56676del (p.Thr18892fs)
|
|
|
|
NM_001267550.2(TTN):c.56679dup (p.Ser18894Ter)
|
rs2052563186
|
|
|
NM_001267550.2(TTN):c.56715G>A (p.Trp18905Ter)
|
|
|
|
NM_001267550.2(TTN):c.56741del (p.Ser18914fs)
|
rs1553663867
|
|
|
NM_001267550.2(TTN):c.5674del (p.Asp1892fs)
|
rs2154346038
|
|
|
NM_001267550.2(TTN):c.56759G>A (p.Trp18920Ter)
|
rs2154190939
|
|
|
NM_001267550.2(TTN):c.56778del (p.Thr18927fs)
|
|
|
|
NM_001267550.2(TTN):c.56783C>A (p.Ser18928Ter)
|
rs1576240126
|
|
|
NM_001267550.2(TTN):c.56790_56792dup (p.Trp18931Ter)
|
|
|
|
NM_001267550.2(TTN):c.56792G>A (p.Trp18931Ter)
|
rs1060500526
|
|
|
NM_001267550.2(TTN):c.56794A>T (p.Lys18932Ter)
|
rs2154190918
|
|
|
NM_001267550.2(TTN):c.56795del (p.Lys18932fs)
|
|
|
|
NM_001267550.2(TTN):c.56830_56831del (p.Leu18944fs)
|
|
|
|
NM_001267550.2(TTN):c.56853del (p.Gly18952fs)
|
rs794729392
|
|
|
NM_001267550.2(TTN):c.56900_56901del (p.Asn18967fs)
|
|
|
|
NM_001267550.2(TTN):c.56905del (p.Ala18969fs)
|
|
|
|
NM_001267550.2(TTN):c.56933C>G (p.Ser18978Ter)
|
|
|
|
NM_001267550.2(TTN):c.56941_56957del (p.Ala18981fs)
|
rs2154190805
|
|
|
NM_001267550.2(TTN):c.56949del (p.Arg18984fs)
|
|
|
|
NM_001267550.2(TTN):c.56962+1G>A
|
|
|
|
NM_001267550.2(TTN):c.56999G>A (p.Trp19000Ter)
|
|
|
|
NM_001267550.2(TTN):c.57008C>A (p.Ser19003Ter)
|
rs878854318
|
|
|
NM_001267550.2(TTN):c.57026G>A (p.Trp19009Ter)
|
|
|
|
NM_001267550.2(TTN):c.57030del (p.Pro19012fs)
|
rs2154190616
|
|
|
NM_001267550.2(TTN):c.57035dup (p.Leu19013fs)
|
rs1553662457
|
|
|
NM_001267550.2(TTN):c.57041_57044del (p.Lys19014fs)
|
|
|
|
NM_001267550.2(TTN):c.57057del (p.Lys19019_Val19020insTer)
|
rs1553662326
|
|
|
NM_001267550.2(TTN):c.57069C>G (p.Tyr19023Ter)
|
|
|
|
NM_001267550.2(TTN):c.57111+2T>C
|
|
|
|
NM_001267550.2(TTN):c.57111_57111+9del
|
rs1553661994
|
|
|
NM_001267550.2(TTN):c.57112-1G>A
|
rs2154190178
|
|
|
NM_001267550.2(TTN):c.57112-1G>C
|
rs2154190178
|
|
|
NM_001267550.2(TTN):c.57115A>T (p.Lys19039Ter)
|
|
|
|
NM_001267550.2(TTN):c.57166G>T (p.Gly19056Ter)
|
|
|
|
NM_001267550.2(TTN):c.57230_57231del (p.Val19077fs)
|
|
|
|
NM_001267550.2(TTN):c.57233_57234del (p.Thr19078fs)
|
|
|
|
NM_001267550.2(TTN):c.57250A>T (p.Lys19084Ter)
|
rs2052181050
|
|
|
NM_001267550.2(TTN):c.57277C>T (p.Gln19093Ter)
|
|
|
|
NM_001267550.2(TTN):c.57295_57296insC (p.Arg19099fs)
|
rs2154189974
|
|
|
NM_001267550.2(TTN):c.57300_57303dup (p.Ile19102Ter)
|
rs1553659902
|
|
|
NM_001267550.2(TTN):c.57301A>T (p.Arg19101Ter)
|
|
|
|
NM_001267550.2(TTN):c.57334del (p.Ile19112fs)
|
|
|
|
NM_001267550.2(TTN):c.57345T>A (p.Tyr19115Ter)
|
|
|
|
NM_001267550.2(TTN):c.57354_57364del (p.Lys19119fs)
|
|
|
|
NM_001267550.2(TTN):c.57363del (p.Pro19122fs)
|
rs2154189911
|
|
|
NM_001267550.2(TTN):c.57388G>T (p.Glu19130Ter)
|
rs1553659628
|
|
|
NM_001267550.2(TTN):c.57494_57495insTC (p.Lys19166fs)
|
|
|
|
NM_001267550.2(TTN):c.57518_57521del (p.Lys19173fs)
|
|
|
|
NM_001267550.2(TTN):c.57519_57520del (p.Lys19174fs)
|
|
|
|
NM_001267550.2(TTN):c.57544+1G>A
|
rs2052045274
|
|
|
NM_001267550.2(TTN):c.57545-2A>G
|
|
|
|
NM_001267550.2(TTN):c.57558del (p.Val19187fs)
|
rs1576186406
|
|
|
NM_001267550.2(TTN):c.57570_57576dup (p.Ala19193fs)
|
|
|
|
NM_001267550.2(TTN):c.57581del (p.His19194fs)
|
|
|
|
NM_001267550.2(TTN):c.57611_57612del (p.Thr19204fs)
|
|
|
|
NM_001267550.2(TTN):c.57614G>A (p.Trp19205Ter)
|
|
|
|
NM_001267550.2(TTN):c.57615del (p.Trp19205fs)
|
|
|
|
NM_001267550.2(TTN):c.57692G>A (p.Trp19231Ter)
|
rs267599044
|
|
|
NM_001267550.2(TTN):c.57693G>A (p.Trp19231Ter)
|
|
|
|
NM_001267550.2(TTN):c.57698del (p.Pro19233fs)
|
|
|
|
NM_001267550.2(TTN):c.5770A>T (p.Lys1924Ter)
|
rs1327562179
|
|
|
NM_001267550.2(TTN):c.57710_57711del (p.Thr19237fs)
|
|
|
|
NM_001267550.2(TTN):c.57712_57715dup (p.Thr19239fs)
|
|
|
|
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter)
|
rs2051361827
|
|
|
NM_001267550.2(TTN):c.57746_57749del (p.Ile19249fs)
|
|
|
|
NM_001267550.2(TTN):c.57748C>T (p.Gln19250Ter)
|
|
|
|
NM_001267550.2(TTN):c.57854del (p.Pro19285fs)
|
|
|
|
NM_001267550.2(TTN):c.57897del (p.Asn19299fs)
|
rs2051003587
|
|
|
NM_001267550.2(TTN):c.5793del (p.Arg1932fs)
|
|
|
|
NM_001267550.2(TTN):c.5797G>T (p.Glu1933Ter)
|
|
|
|
NM_001267550.2(TTN):c.57998_57999del (p.Lys19333fs)
|
|
|
|
NM_001267550.2(TTN):c.58033del (p.Thr19345fs)
|
rs2154187247
|
|
|
NM_001267550.2(TTN):c.5808del (p.Arg1936fs)
|
rs2154345980
|
|
|
NM_001267550.2(TTN):c.58095dup (p.Gly19366fs)
|
|
|
|
NM_001267550.2(TTN):c.58117dup (p.Cys19373fs)
|
|
|
|
NM_001267550.2(TTN):c.5814_5815insT (p.Leu1939fs)
|
rs2154345971
|
|
|
NM_001267550.2(TTN):c.58151-2A>G
|
rs2154187087
|
|
|
NM_001267550.2(TTN):c.58176del (p.Phe19392fs)
|
|
|
|
NM_001267550.2(TTN):c.58208del (p.Ala19403fs)
|
rs2154187038
|
|
|
NM_001267550.2(TTN):c.58228del (p.Tyr19410fs)
|
|
|
|
NM_001267550.2(TTN):c.58244del (p.Lys19415fs)
|
|
|
|
NM_001267550.2(TTN):c.58252del (p.Val19418fs)
|
|
|
|
NM_001267550.2(TTN):c.58258del (p.Trp19420fs)
|
rs2050888713
|
|
|
NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter)
|
rs869025544
|
|
|
NM_001267550.2(TTN):c.58260G>A (p.Trp19420Ter)
|
|
|
|
NM_001267550.2(TTN):c.5829_5830delinsGT (p.Glu1944Ter)
|
|
|
|
NM_001267550.2(TTN):c.58304_58317del (p.Ile19435fs)
|
rs2154186968
|
|
|
NM_001267550.2(TTN):c.58327del (p.Ala19443fs)
|
|
|
|
NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs)
|
rs2050860445
|
|
|
NM_001267550.2(TTN):c.58388del (p.Asn19463fs)
|
rs2050854171
|
|
|
NM_001267550.2(TTN):c.58390del (p.Ser19464fs)
|
rs2154186900
|
|
|
NM_001267550.2(TTN):c.584-1G>T
|
|
|
|
NM_001267550.2(TTN):c.58413_58414del (p.Phe19471fs)
|
rs2154186876
|
|
|
NM_001267550.2(TTN):c.58417C>T (p.Gln19473Ter)
|
|
|
|
NM_001267550.2(TTN):c.58432+2T>C
|
rs796197320
|
|
|
NM_001267550.2(TTN):c.58474_58480del (p.Val19492fs)
|
|
|
|
NM_001267550.2(TTN):c.58545T>A (p.Tyr19515Ter)
|
rs1195475569
|
|
|
NM_001267550.2(TTN):c.58568del (p.Gly19523fs)
|
rs1553650442
|
|
|
NM_001267550.2(TTN):c.58581G>A (p.Trp19527Ter)
|
rs2154186640
|
|
|
NM_001267550.2(TTN):c.58620del (p.Val19541fs)
|
rs1576147786
|
|
|
NM_001267550.2(TTN):c.5867del (p.Lys1956fs)
|
rs1554006249
|
|
|
NM_001267550.2(TTN):c.58739del (p.Pro19580fs)
|
|
|
|
NM_001267550.2(TTN):c.58780del (p.Asp19594fs)
|
|
|
|
NM_001267550.2(TTN):c.5878G>T (p.Glu1960Ter)
|
|
|
|
NM_001267550.2(TTN):c.58797del (p.Trp19600fs)
|
|
|
|
NM_001267550.2(TTN):c.58799G>A (p.Trp19600Ter)
|
|
|
|
NM_001267550.2(TTN):c.5884C>T (p.Gln1962Ter)
|
|
|
|
NM_001267550.2(TTN):c.58850del (p.Lys19617fs)
|
rs2050657361
|
|
|
NM_001267550.2(TTN):c.58858_58859del (p.Thr19620fs)
|
rs2154186303
|
|
|
NM_001267550.2(TTN):c.58861_58862del (p.Met19621fs)
|
|
|
|
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter)
|
rs1553649171
|
|
|
NM_001267550.2(TTN):c.58874G>A (p.Trp19625Ter)
|
rs1553649122
|
|
|
NM_001267550.2(TTN):c.58879A>T (p.Arg19627Ter)
|
|
|
|
NM_001267550.2(TTN):c.5889_5922del (p.Val1964fs)
|
rs2092170508
|
|
|
NM_001267550.2(TTN):c.5890del (p.Val1964fs)
|
|
|
|
NM_001267550.2(TTN):c.58936del (p.Glu19646fs)
|
|
|
|
NM_001267550.2(TTN):c.58969G>T (p.Glu19657Ter)
|
|
|
|
NM_001267550.2(TTN):c.59109_59112dup (p.Arg19705fs)
|
rs1553648246
|
|
|
NM_001267550.2(TTN):c.59127del (p.Ser19710fs)
|
rs2050559188
|
|
|
NM_001267550.2(TTN):c.59132del (p.Lys19711fs)
|
|
|
|
NM_001267550.2(TTN):c.59158C>T (p.Gln19720Ter)
|
|
|
|
NM_001267550.2(TTN):c.59174_59175del (p.Glu19725fs)
|
|
|
|
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs)
|
rs752948913
|
|
|
NM_001267550.2(TTN):c.59201dup (p.Pro19734_Glu19735insTer)
|
rs2154185983
|
|
|
NM_001267550.2(TTN):c.59205del (p.Glu19735fs)
|
rs397517643
|
|
|
NM_001267550.2(TTN):c.59254dup (p.Thr19752fs)
|
|
|
|
NM_001267550.2(TTN):c.59291dup (p.Gly19764_Glu19765insTer)
|
|
|
|
NM_001267550.2(TTN):c.5933del (p.Lys1978fs)
|
rs2092169389
|
|
|
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs)
|
rs886039027
|
|
|
NM_001267550.2(TTN):c.59377del (p.Ala19793fs)
|
|
|
|
NM_001267550.2(TTN):c.59397dup (p.Val19800fs)
|
|
|
|
NM_001267550.2(TTN):c.59402del (p.Gly19801fs)
|
rs1064793367
|
|
|
NM_001267550.2(TTN):c.59411dup (p.Arg19805fs)
|
rs755261062
|
|
|
NM_001267550.2(TTN):c.59451dup (p.Val19818fs)
|
|
|
|
NM_001267550.2(TTN):c.59458del (p.Trp19820fs)
|
|
|
|
NM_001267550.2(TTN):c.59466dup (p.Glu19823fs)
|
rs2154185712
|
|
|
NM_001267550.2(TTN):c.59467G>T (p.Glu19823Ter)
|
|
|
|
NM_001267550.2(TTN):c.59531_59570dup (p.Leu19857delinsPheSerTer)
|
rs1064792914
|
|
|
NM_001267550.2(TTN):c.59535del (p.Asn19846fs)
|
rs1559602980
|
|
|
NM_001267550.2(TTN):c.59548_59561del (p.Glu19850fs)
|
|
|
|
NM_001267550.2(TTN):c.59558del (p.Gly19853fs)
|
|
|
|
NM_001267550.2(TTN):c.59570_59571insTTTTTTTTTTNNNNNNNNNNCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCCGGAATTTATTCTTT (p.Leu19857fs)
|
rs2154185645
|
|
|
NM_001267550.2(TTN):c.59583_59599dup (p.Thr19867fs)
|
rs2154185625
|
|
|
NM_001267550.2(TTN):c.59598_59599dup (p.Thr19867fs)
|
rs2154185622
|
|
|
NM_001267550.2(TTN):c.59647_59648del (p.Asp19883fs)
|
rs878854322
|
|
|
NM_001267550.2(TTN):c.59730del (p.Asn19911fs)
|
|
|
|
NM_001267550.2(TTN):c.59763del (p.Ser19921fs)
|
rs1559599859
|
|
|
NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter)
|
|
|
|
NM_001267550.2(TTN):c.59800_59801del (p.Lys19934fs)
|
|
|
|
NM_001267550.2(TTN):c.59802del (p.Ser19935fs)
|
|
|
|
NM_001267550.2(TTN):c.59803_59804del (p.His19936fs)
|
|
|
|
NM_001267550.2(TTN):c.59841C>A (p.Tyr19947Ter)
|
rs1413760246
|
|
|
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)
|
rs1559598775
|
|
|
NM_001267550.2(TTN):c.59872G>T (p.Gly19958Ter)
|
|
|
|
NM_001267550.2(TTN):c.59903del (p.Pro19968fs)
|
rs2154185335
|
|
|
NM_001267550.2(TTN):c.59906_59924delinsAA (p.Ile19969fs)
|
rs2050313754
|
|
|
NM_001267550.2(TTN):c.59917del (p.Asp19973fs)
|
rs2050315855
|
|
|
NM_001267550.2(TTN):c.59926+2T>C
|
|
|
|
NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter)
|
rs1085307825
|
|
|
NM_001267550.2(TTN):c.59994G>A (p.Trp19998Ter)
|
rs2154185221
|
|
|
NM_001267550.2(TTN):c.59997del (p.Asn19999fs)
|
rs2154185219
|
|
|
NM_001267550.2(TTN):c.599del (p.Pro200fs)
|
|
|
|
NM_001267550.2(TTN):c.60049C>T (p.Gln20017Ter)
|
|
|
|
NM_001267550.2(TTN):c.60098T>G (p.Leu20033Ter)
|
|
|
|
NM_001267550.2(TTN):c.60099dup (p.Glu20034fs)
|
rs2050247265
|
|
|
NM_001267550.2(TTN):c.60121C>T (p.Gln20041Ter)
|
rs794729277
|
|
|
NM_001267550.2(TTN):c.60127G>T (p.Gly20043Ter)
|
|
|
|
NM_001267550.2(TTN):c.60258del (p.Gly20087fs)
|
rs2154184977
|
|
|
NM_001267550.2(TTN):c.60263_60264del (p.Leu20088fs)
|
rs1559592415
|
|
|
NM_001267550.2(TTN):c.60264del (p.Val20089fs)
|
|
|
|
NM_001267550.2(TTN):c.60284_60285del (p.Thr20095fs)
|
rs1553644362
|
|
|
NM_001267550.2(TTN):c.60348del (p.Ser20117fs)
|
|
|
|
NM_001267550.2(TTN):c.60359_60371del (p.Lys20120fs)
|
rs2154184904
|
|
|
NM_001267550.2(TTN):c.60375C>A (p.Tyr20125Ter)
|
rs1064796977
|
|
|
NM_001267550.2(TTN):c.60407_60410dup (p.Ile20138fs)
|
|
|
|
NM_001267550.2(TTN):c.60433_60434dup (p.Asp20145fs)
|
|
|
|
NM_001267550.2(TTN):c.60442dup (p.Glu20148fs)
|
|
|
|
NM_001267550.2(TTN):c.60447T>G (p.Tyr20149Ter)
|
rs1553644047
|
|
|
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs)
|
rs2154184873
|
|
|
NM_001267550.2(TTN):c.60457_60460del (p.Val20153fs)
|
|
|
|
NM_001267550.2(TTN):c.60488_60494delinsTTTTGCTGTTCTTGATGT (p.Ala20163fs)
|
|
|
|
NM_001267550.2(TTN):c.60493dup (p.His20165fs)
|
|
|
|
NM_001267550.2(TTN):c.6052del (p.Leu2018fs)
|
|
|
|
NM_001267550.2(TTN):c.60565_60566del (p.Met20189fs)
|
|
|
|
NM_001267550.2(TTN):c.60581del (p.Gln20194fs)
|
rs1559589139
|
|
|
NM_001267550.2(TTN):c.60621del (p.Asn20206_Tyr20207insTer)
|
rs1060500442
|
|
|
NM_001267550.2(TTN):c.60654del (p.Trp20219fs)
|
|
|
|
NM_001267550.2(TTN):c.60709C>T (p.Gln20237Ter)
|
|
|
|
NM_001267550.2(TTN):c.60713del (p.Lys20238fs)
|
|
|
|
NM_001267550.2(TTN):c.60744del (p.Glu20249fs)
|
|
|
|
NM_001267550.2(TTN):c.60760del (p.Val20254fs)
|
rs2050086519
|
|
|
NM_001267550.2(TTN):c.60801_60802insTAAA (p.Lys20268Ter)
|
|
|
|
NM_001267550.2(TTN):c.60831del (p.Lys20277fs)
|
rs2050068938
|
|
|
NM_001267550.2(TTN):c.60853dup (p.Glu20285fs)
|
rs2154184643
|
|
|
NM_001267550.2(TTN):c.60865dup (p.Thr20289fs)
|
rs1553643260
|
|
|
NM_001267550.2(TTN):c.60918C>G (p.Tyr20306Ter)
|
|
|
|
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter)
|
rs869312055
|
|
|
NM_001267550.2(TTN):c.60961_60962dup (p.Asn20321fs)
|
|
|
|
NM_001267550.2(TTN):c.6098del (p.Lys2033fs)
|
rs2154345845
|
|
|
NM_001267550.2(TTN):c.60993_60994del (p.Arg20331fs)
|
rs2154184570
|
|
|
NM_001267550.2(TTN):c.61008T>A (p.Tyr20336Ter)
|
|
|
|
NM_001267550.2(TTN):c.61009G>T (p.Glu20337Ter)
|
rs2050024892
|
|
|
NM_001267550.2(TTN):c.61012G>T (p.Gly20338Ter)
|
|
|
|
NM_001267550.2(TTN):c.61023T>G (p.Tyr20341Ter)
|
|
|
|
NM_001267550.2(TTN):c.61024G>T (p.Glu20342Ter)
|
|
|
|
NM_001267550.2(TTN):c.61024_61028del (p.Tyr20341_Glu20342insTer)
|
|
|
|
NM_001267550.2(TTN):c.61067del (p.Pro20356fs)
|
|
|
|
NM_001267550.2(TTN):c.61079del (p.Ser20360fs)
|
|
|
|
NM_001267550.2(TTN):c.61187_61188del (p.Leu20396fs)
|
|
|
|
NM_001267550.2(TTN):c.61218_61221dup (p.Val20408fs)
|
|
|
|
NM_001267550.2(TTN):c.61269del (p.Asp20424fs)
|
rs1060500420
|
|
|
NM_001267550.2(TTN):c.61287del (p.Gln20429fs)
|
|
|
|
NM_001267550.2(TTN):c.61290T>A (p.Cys20430Ter)
|
|
|
|
NM_001267550.2(TTN):c.61297del (p.Arg20433fs)
|
rs2154184377
|
|
|
NM_001267550.2(TTN):c.61323dup (p.Glu20442Ter)
|
|
|
|
NM_001267550.2(TTN):c.61324G>T (p.Glu20442Ter)
|
rs751412533
|
|
|
NM_001267550.2(TTN):c.61367del (p.Gly20456fs)
|
rs2154184341
|
|
|
NM_001267550.2(TTN):c.61369G>T (p.Glu20457Ter)
|
rs2049944547
|
|
|
NM_001267550.2(TTN):c.61394_61395del (p.Val20465fs)
|
rs2154184320
|
|
|
NM_001267550.2(TTN):c.61408_61409del (p.Ile20470fs)
|
|
|
|
NM_001267550.2(TTN):c.61437_61438insA (p.Val20480fs)
|
|
|
|
NM_001267550.2(TTN):c.61445_61446del (p.Cys20482fs)
|
|
|
|
NM_001267550.2(TTN):c.61479_61483del (p.Ile20494fs)
|
rs1131691981
|
|
|
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter)
|
rs869312112
|
|
|
NM_001267550.2(TTN):c.61515del (p.Glu20505fs)
|
rs2154184240
|
|
|
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)
|
rs794729278
|
|
|
NM_001267550.2(TTN):c.61614del (p.Ala20539fs)
|
|
|
|
NM_001267550.2(TTN):c.61655del (p.Lys20552fs)
|
|
|
|
NM_001267550.2(TTN):c.61675C>T (p.Gln20559Ter)
|
|
|
|
NM_001267550.2(TTN):c.61678_61685del (p.Gly20560fs)
|
|
|
|
NM_001267550.2(TTN):c.61682C>G (p.Ser20561Ter)
|
rs1114167324
|
|
|
NM_001267550.2(TTN):c.61720C>T (p.Gln20574Ter)
|
|
|
|
NM_001267550.2(TTN):c.61757_61758del (p.Cys20586fs)
|
rs1264036094
|
|
|
NM_001267550.2(TTN):c.61765dup (p.Ser20589fs)
|
|
|
|
NM_001267550.2(TTN):c.61830dup (p.Pro20611fs)
|
rs2154184083
|
|
|
NM_001267550.2(TTN):c.61847G>A (p.Trp20616Ter)
|
rs1576077909
|
|
|
NM_001267550.2(TTN):c.61850C>G (p.Ser20617Ter)
|
rs2154184066
|
|
|
NM_001267550.2(TTN):c.618_630del (p.Ile207fs)
|
rs2154358671
|
|
|
NM_001267550.2(TTN):c.61977del (p.Ile20660fs)
|
rs2154183984
|
|
|
NM_001267550.2(TTN):c.62042_62046del (p.Gly20681fs)
|
|
|
|
NM_001267550.2(TTN):c.62075del (p.Pro20692fs)
|
rs2154183927
|
|
|
NM_001267550.2(TTN):c.62109T>A (p.Tyr20703Ter)
|
rs2154183898
|
|
|
NM_001267550.2(TTN):c.62128_63102delinsGA (p.Lys20710fs)
|
rs2049572412
|
|
|
NM_001267550.2(TTN):c.62129dup (p.Ser20712fs)
|
rs886039913
|
|
|
NM_001267550.2(TTN):c.62131_62135dup (p.Asp20713fs)
|
|
|
|
NM_001267550.2(TTN):c.62144G>A (p.Trp20715Ter)
|
|
|
|
NM_001267550.2(TTN):c.62184C>A (p.Tyr20728Ter)
|
|
|
|
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter)
|
rs727503586
|
|
|
NM_001267550.2(TTN):c.62251dup (p.Glu20751fs)
|
|
|
|
NM_001267550.2(TTN):c.62261G>A (p.Trp20754Ter)
|
|
|
|
NM_001267550.2(TTN):c.62299C>T (p.Gln20767Ter)
|
|
|
|
NM_001267550.2(TTN):c.62302A>T (p.Lys20768Ter)
|
|
|
|
NM_001267550.2(TTN):c.62337_62340del (p.Thr20780fs)
|
rs2154183737
|
|
|
NM_001267550.2(TTN):c.62374_62378del (p.Ala20791_Gly20792insTer)
|
|
|
|
NM_001267550.2(TTN):c.62408G>A (p.Trp20803Ter)
|
|
|
|
NM_001267550.2(TTN):c.62409G>A (p.Trp20803Ter)
|
|
|
|
NM_001267550.2(TTN):c.6244G>T (p.Glu2082Ter)
|
rs750064248
|
|
|
NM_001267550.2(TTN):c.62477C>G (p.Ser20826Ter)
|
|
|
|
NM_001267550.2(TTN):c.62493dup (p.Thr20832fs)
|
|
|
|
NM_001267550.2(TTN):c.62519dup (p.Gly20840_Lys20841insTer)
|
|
|
|
NM_001267550.2(TTN):c.62525_62526del (p.Tyr20842fs)
|
|
|
|
NM_001267550.2(TTN):c.62526T>G (p.Tyr20842Ter)
|
rs2049710031
|
|
|
NM_001267550.2(TTN):c.62530_62531del (p.Val20844fs)
|
|
|
|
NM_001267550.2(TTN):c.62533_62534insGTTGGAAGTTA (p.Thr20845fs)
|
|
|
|
NM_001267550.2(TTN):c.62597del (p.Gly20866fs)
|
rs1576066084
|
|
|
NM_001267550.2(TTN):c.62642_62648del (p.Cys20881fs)
|
|
|
|
NM_001267550.2(TTN):c.62655G>A (p.Trp20885Ter)
|
rs2049677875
|
|
|
NM_001267550.2(TTN):c.62708_62709insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAA (p.Lys20903_Cys20904insAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)
|
rs543860009
|
|
|
NM_001267550.2(TTN):c.62742T>G (p.Tyr20914Ter)
|
|
|
|
NM_001267550.2(TTN):c.62756dup (p.Leu20919fs)
|
|
|
|
NM_001267550.2(TTN):c.62799_62811del (p.Tyr20934fs)
|
|
|
|
NM_001267550.2(TTN):c.62810_62813dup (p.Arg20939fs)
|
|
|
|
NM_001267550.2(TTN):c.6283del (p.Ala2095fs)
|
|
|
|
NM_001267550.2(TTN):c.62854del (p.Ser20952fs)
|
rs2154183406
|
|
|
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs)
|
rs876657666
|
|
|
NM_001267550.2(TTN):c.6290dup (p.Arg2098fs)
|
|
|
|
NM_001267550.2(TTN):c.62911G>T (p.Glu20971Ter)
|
|
|
|
NM_001267550.2(TTN):c.62922del (p.Lys20974_Val20975insTer)
|
rs2154183349
|
|
|
NM_001267550.2(TTN):c.62935G>T (p.Glu20979Ter)
|
rs1306891128
|
|
|
NM_001267550.2(TTN):c.62951G>A (p.Trp20984Ter)
|
|
|
|
NM_001267550.2(TTN):c.62966del (p.Tyr20989fs)
|
|
|
|
NM_001267550.2(TTN):c.62978dup (p.Ser20994fs)
|
rs2154183322
|
|
|
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter)
|
rs368452607
|
|
|
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs)
|
rs1559561666
|
|
|
NM_001267550.2(TTN):c.63081dup (p.Leu21028fs)
|
|
|
|
NM_001267550.2(TTN):c.63094del (p.His21032fs)
|
|
|
|
NM_001267550.2(TTN):c.63096del (p.His21032fs)
|
|
|
|
NM_001267550.2(TTN):c.6322G>T (p.Glu2108Ter)
|
|
|
|
NM_001267550.2(TTN):c.63234del (p.Lys21078fs)
|
|
|
|
NM_001267550.2(TTN):c.63255G>A (p.Trp21085Ter)
|
rs1553638539
|
|
|
NM_001267550.2(TTN):c.63270T>G (p.Tyr21090Ter)
|
rs878991431
|
|
|
NM_001267550.2(TTN):c.63303_63304delinsTT (p.Glu21102Ter)
|
|
|
|
NM_001267550.2(TTN):c.6332G>A (p.Trp2111Ter)
|
|
|
|
NM_001267550.2(TTN):c.63367dup (p.Ala21123fs)
|
rs2154182688
|
|
|
NM_001267550.2(TTN):c.63390_63393del (p.Phe21130fs)
|
|
|
|
NM_001267550.2(TTN):c.63413_63420dup (p.Tyr21141fs)
|
|
|
|
NM_001267550.2(TTN):c.63422_63423dup (p.Glu21142fs)
|
|
|
|
NM_001267550.2(TTN):c.63504del (p.Ile21168_Leu21169insTer)
|
rs2154182600
|
|
|
NM_001267550.2(TTN):c.63526_63527del (p.Leu21176fs)
|
rs2154182483
|
|
|
NM_001267550.2(TTN):c.63546dup (p.Leu21183fs)
|
|
|
|
NM_001267550.2(TTN):c.63577dup (p.Arg21193fs)
|
rs2154182439
|
|
|
NM_001267550.2(TTN):c.63578del (p.Arg21193fs)
|
rs2154182432
|
|
|
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)
|
rs764243269
|
|
|
NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter)
|
rs794729279
|
|
|
NM_001267550.2(TTN):c.63675del (p.Asp21226fs)
|
rs2154182357
|
|
|
NM_001267550.2(TTN):c.63722delinsAA (p.Ser21241Ter)
|
rs2049307995
|
|
|
NM_001267550.2(TTN):c.63729del (p.Lys21243fs)
|
|
|
|
NM_001267550.2(TTN):c.63747del (p.Asn21250fs)
|
|
|
|
NM_001267550.2(TTN):c.63754del (p.Ala21252fs)
|
rs2154182312
|
|
|
NM_001267550.2(TTN):c.63793+1G>A
|
rs2154182296
|
|
|
NM_001267550.2(TTN):c.63793+1G>T
|
|
|
|
NM_001267550.2(TTN):c.63794-1G>A
|
rs2049262622
|
|
|
NM_001267550.2(TTN):c.63801del (p.Pro21269fs)
|
rs1553636843
|
|
|
NM_001267550.2(TTN):c.6381C>G (p.Tyr2127Ter)
|
rs2092121151
|
|
|
NM_001267550.2(TTN):c.63845C>G (p.Ser21282Ter)
|
|
|
|
NM_001267550.2(TTN):c.63851_63864del (p.His21284fs)
|
|
|
|
NM_001267550.2(TTN):c.63860G>A (p.Trp21287Ter)
|
|
|
|
NM_001267550.2(TTN):c.63879del (p.Asp21293fs)
|
rs2154182119
|
|
|
NM_001267550.2(TTN):c.6388G>T (p.Glu2130Ter)
|
rs762914675
|
|
|
NM_001267550.2(TTN):c.63938G>A (p.Trp21313Ter)
|
|
|
|
NM_001267550.2(TTN):c.63982del (p.Thr21328fs)
|
|
|
|
NM_001267550.2(TTN):c.6400dup (p.Cys2134fs)
|
|
|
|
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)
|
rs1553636324
|
|
|
NM_001267550.2(TTN):c.64033G>T (p.Glu21345Ter)
|
|
|
|
NM_001267550.2(TTN):c.64082C>A (p.Ser21361Ter)
|
|
|
|
NM_001267550.2(TTN):c.64093+1G>A
|
|
|
|
NM_001267550.2(TTN):c.64093+1G>T
|
|
|
|
NM_001267550.2(TTN):c.64094-1G>A
|
|
|
|
NM_001267550.2(TTN):c.64094-1G>C
|
rs2154181635
|
|
|
NM_001267550.2(TTN):c.64094-2A>G
|
rs876657667
|
|
|
NM_001267550.2(TTN):c.64098del (p.Glu21366fs)
|
rs1576018303
|
|
|
NM_001267550.2(TTN):c.6409del (p.Val2137fs)
|
rs2092117117
|
|
|
NM_001267550.2(TTN):c.64185del (p.Ala21396fs)
|
|
|
|
NM_001267550.2(TTN):c.64216A>T (p.Arg21406Ter)
|
rs2049052530
|
|
|
NM_001267550.2(TTN):c.64222G>T (p.Glu21408Ter)
|
rs1576015923
|
|
|
NM_001267550.2(TTN):c.64244G>A (p.Trp21415Ter)
|
|
|
|
NM_001267550.2(TTN):c.64245G>A (p.Trp21415Ter)
|
|
|
|
NM_001267550.2(TTN):c.64287del (p.Gly21430fs)
|
rs2049038862
|
|
|
NM_001267550.2(TTN):c.64297del (p.Glu21433fs)
|
rs1576014780
|
|
|
NM_001267550.2(TTN):c.64314del (p.Lys21438fs)
|
rs2154181503
|
|
|
NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter)
|
rs1576014673
|
|
|
NM_001267550.2(TTN):c.64352T>A (p.Leu21451Ter)
|
rs777425925
|
|
|
NM_001267550.2(TTN):c.64352del (p.Leu21451fs)
|
|
|
|
NM_001267550.2(TTN):c.64396+2T>C
|
rs2154181458
|
|
|
NM_001267550.2(TTN):c.64423C>T (p.Gln21475Ter)
|
|
|
|
NM_001267550.2(TTN):c.64427_64428dup (p.Thr21477Ter)
|
rs1559536156
|
|
|
NM_001267550.2(TTN):c.64443dup (p.Lys21482fs)
|
|
|
|
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter)
|
rs768345594
|
|
|
NM_001267550.2(TTN):c.64506del (p.Gly21503fs)
|
|
|
|
NM_001267550.2(TTN):c.64506dup (p.Gly21503fs)
|
|
|
|
NM_001267550.2(TTN):c.64516G>T (p.Glu21506Ter)
|
|
|
|
NM_001267550.2(TTN):c.64518del (p.Val21507fs)
|
rs2154180376
|
|
|
NM_001267550.2(TTN):c.64551dup (p.Ala21518fs)
|
|
|
|
NM_001267550.2(TTN):c.64577dup (p.Asp21528fs)
|
rs2048654277
|
|
|
NM_001267550.2(TTN):c.64583_64592dup (p.Arg21531_Lys21532insCysAspTer)
|
rs2154180338
|
|
|
NM_001267550.2(TTN):c.64594_64601del (p.Lys21532fs)
|
|
|
|
NM_001267550.2(TTN):c.64655_64659dup (p.Val21554fs)
|
|
|
|
NM_001267550.2(TTN):c.64672+1G>A
|
rs2048635392
|
|
|
NM_001267550.2(TTN):c.64672+2T>A
|
|
|
|
NM_001267550.2(TTN):c.64672+2T>C
|
rs2154180290
|
|
|
NM_001267550.2(TTN):c.64673-1G>A
|
rs2154180190
|
|
|
NM_001267550.2(TTN):c.64673-2A>G
|
rs2154180194
|
|
|
NM_001267550.2(TTN):c.64680dup (p.Gly21561fs)
|
rs794729330
|
|
|
NM_001267550.2(TTN):c.64682del (p.Gly21561fs)
|
|
|
|
NM_001267550.2(TTN):c.64688_64689insA (p.Gln21564fs)
|
rs2154180169
|
|
|
NM_001267550.2(TTN):c.64688del (p.Pro21563fs)
|
rs774395395
|
|
|
NM_001267550.2(TTN):c.64688dup (p.Gln21564fs)
|
rs774395395
|
|
|
NM_001267550.2(TTN):c.64708del (p.Ser21570fs)
|
rs2048590205
|
|
|
NM_001267550.2(TTN):c.64742G>A (p.Trp21581Ter)
|
rs1057523344
|
|
|
NM_001267550.2(TTN):c.64752_64756del (p.Leu21585fs)
|
|
|
|
NM_001267550.2(TTN):c.64810C>T (p.Arg21604Ter)
|
|
|
|
NM_001267550.2(TTN):c.64843dup (p.Thr21615fs)
|
rs2048567077
|
|
|
NM_001267550.2(TTN):c.64882C>T (p.Gln21628Ter)
|
|
|
|
NM_001267550.2(TTN):c.64890C>A (p.Tyr21630Ter)
|
|
|
|
NM_001267550.2(TTN):c.64915C>T (p.Arg21639Ter)
|
rs1432889079
|
|
|
NM_001267550.2(TTN):c.64973-1G>C
|
rs2154179915
|
|
|
NM_001267550.2(TTN):c.6497T>G (p.Leu2166Ter)
|
|
|
|
NM_001267550.2(TTN):c.64991del (p.Lys21664fs)
|
|
|
|
NM_001267550.2(TTN):c.64995del (p.Asn21665fs)
|
|
|
|
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)
|
rs794729280
|
|
|
NM_001267550.2(TTN):c.65024_65025del (p.Cys21675fs)
|
|
|
|
NM_001267550.2(TTN):c.65046del (p.Arg21682fs)
|
|
|
|
NM_001267550.2(TTN):c.65087_65100del (p.Ile21696fs)
|
|
|
|
NM_001267550.2(TTN):c.6509-1G>A
|
|
|
|
NM_001267550.2(TTN):c.6509-1G>T
|
|
|
|
NM_001267550.2(TTN):c.65098_65102del (p.Glu21700fs)
|
|
|
|
NM_001267550.2(TTN):c.65140del (p.Val21714fs)
|
|
|
|
NM_001267550.2(TTN):c.6514C>T (p.Gln2172Ter)
|
|
|
|
NM_001267550.2(TTN):c.65212_65213del (p.Asn21738fs)
|
|
|
|
NM_001267550.2(TTN):c.65275+1G>A
|
|
|
|
NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter)
|
rs1193046655
|
|
|
NM_001267550.2(TTN):c.65437C>T (p.Gln21813Ter)
|
rs1575960580
|
|
|
NM_001267550.2(TTN):c.65505del (p.Ile21835fs)
|
rs1559521007
|
|
|
NM_001267550.2(TTN):c.65531del (p.Pro21844fs)
|
rs794729331
|
|
|
NM_001267550.2(TTN):c.65573dup (p.Asn21858fs)
|
|
|
|
NM_001267550.2(TTN):c.65575+1del
|
rs2154179114
|
|
|
NM_001267550.2(TTN):c.65576-2A>G
|
rs869025549
|
|
|
NM_001267550.2(TTN):c.65595del (p.Ser21866fs)
|
|
|
|
NM_001267550.2(TTN):c.65615del (p.Leu21872fs)
|
|
|
|
NM_001267550.2(TTN):c.6564del (p.Asp2189fs)
|
|
|
|
NM_001267550.2(TTN):c.65657_65658del (p.Thr21886fs)
|
rs2048154655
|
|
|
NM_001267550.2(TTN):c.65661_65677del (p.Phe21888fs)
|
rs2048149402
|
|
|
NM_001267550.2(TTN):c.65697dup (p.Asp21900fs)
|
rs2154178712
|
|
|
NM_001267550.2(TTN):c.65698dup (p.Asp21900fs)
|
|
|
|
NM_001267550.2(TTN):c.65755_65756del (p.Cys21919fs)
|
rs1553629143
|
|
|
NM_001267550.2(TTN):c.65758_65759del (p.Thr21920fs)
|
rs1553629105
|
|
|
NM_001267550.2(TTN):c.65784del (p.Lys21929fs)
|
|
|
|
NM_001267550.2(TTN):c.65792C>G (p.Ser21931Ter)
|
|
|
|
NM_001267550.2(TTN):c.65792dup (p.Gly21932fs)
|
|
|
|
NM_001267550.2(TTN):c.65861T>G (p.Leu21954Ter)
|
|
|
|
NM_001267550.2(TTN):c.65863+2T>A
|
|
|
|
NM_001267550.2(TTN):c.65893dup (p.Ile21965fs)
|
|
|
|
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter)
|
rs748313513
|
|
|
NM_001267550.2(TTN):c.65931G>A (p.Trp21977Ter)
|
|
|
|
NM_001267550.2(TTN):c.66008G>A (p.Trp22003Ter)
|
rs1229556495
|
|
|
NM_001267550.2(TTN):c.66039del (p.Ser22014fs)
|
rs1553628052
|
|
|
NM_001267550.2(TTN):c.66058_66061dup (p.Ile22021fs)
|
|
|
|
NM_001267550.2(TTN):c.66059_66060insAT (p.Ile22021fs)
|
rs2047981524
|
|
|
NM_001267550.2(TTN):c.66062_66063del (p.Ile22021fs)
|
|
|
|
NM_001267550.2(TTN):c.66079C>T (p.Gln22027Ter)
|
rs2047976018
|
|
|
NM_001267550.2(TTN):c.66081_66088del (p.Gln22027fs)
|
|
|
|
NM_001267550.2(TTN):c.66160+1G>T
|
rs2047961752
|
|
|
NM_001267550.2(TTN):c.66161-1G>C
|
rs1553627403
|
|
|
NM_001267550.2(TTN):c.66228G>A (p.Trp22076Ter)
|
rs1131692031
|
|
|
NM_001267550.2(TTN):c.66239_66242dup (p.Asp22082fs)
|
rs2047913995
|
|
|
NM_001267550.2(TTN):c.66254C>A (p.Ser22085Ter)
|
|
|
|
NM_001267550.2(TTN):c.66305G>A (p.Trp22102Ter)
|
|
|
|
NM_001267550.2(TTN):c.66306G>A (p.Trp22102Ter)
|
|
|
|
NM_001267550.2(TTN):c.66319del (p.Arg22107fs)
|
rs2047900528
|
|
|
NM_001267550.2(TTN):c.66361C>T (p.Gln22121Ter)
|
|
|
|
NM_001267550.2(TTN):c.66378dup (p.Glu22127Ter)
|
|
|
|
NM_001267550.2(TTN):c.66458dup (p.Gln22154fs)
|
|
|
|
NM_001267550.2(TTN):c.66460C>T (p.Gln22154Ter)
|
|
|
|
NM_001267550.2(TTN):c.66463+1G>A
|
|
|
|
NM_001267550.2(TTN):c.66464-2A>G
|
rs1575921187
|
|
|
NM_001267550.2(TTN):c.66492del (p.Val22165fs)
|
|
|
|
NM_001267550.2(TTN):c.66524dup (p.Ser22176fs)
|
|
|
|
NM_001267550.2(TTN):c.66546T>A (p.Tyr22182Ter)
|
|
|
|
NM_001267550.2(TTN):c.66576dup (p.Val22193fs)
|
rs2154177519
|
|
|
NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter)
|
rs397517664
|
|
|
NM_001267550.2(TTN):c.66637C>T (p.Gln22213Ter)
|
|
|
|
NM_001267550.2(TTN):c.66651del (p.Phe22217fs)
|
|
|
|
NM_001267550.2(TTN):c.66679C>T (p.Gln22227Ter)
|
|
|
|
NM_001267550.2(TTN):c.66682dup (p.Tyr22228fs)
|
rs2154177424
|
|
|
NM_001267550.2(TTN):c.66710del (p.Lys22237fs)
|
rs1060500479
|
|
|
NM_001267550.2(TTN):c.66753T>G (p.Tyr22251Ter)
|
rs2047743679
|
|
|
NM_001267550.2(TTN):c.66770-2A>C
|
rs1553624468
|
|
|
NM_001267550.2(TTN):c.66776del (p.Pro22259fs)
|
|
|
|
NM_001267550.2(TTN):c.6678_6681del (p.Lys2227fs)
|
rs397517698
|
|
|
NM_001267550.2(TTN):c.66793dup (p.Ala22265fs)
|
rs2047469522
|
|
|
NM_001267550.2(TTN):c.66800T>A (p.Leu22267Ter)
|
|
|
|
NM_001267550.2(TTN):c.66806del (p.Lys22269fs)
|
|
|
|
NM_001267550.2(TTN):c.66816_66817del (p.Leu22273fs)
|
rs2154176484
|
|
|
NM_001267550.2(TTN):c.66846T>G (p.Tyr22282Ter)
|
|
|
|
NM_001267550.2(TTN):c.66858dup (p.Gly22287fs)
|
|
|
|
NM_001267550.2(TTN):c.66859G>T (p.Gly22287Ter)
|
|
|
|
NM_001267550.2(TTN):c.66884G>A (p.Trp22295Ter)
|
|
|
|
NM_001267550.2(TTN):c.66885G>A (p.Trp22295Ter)
|
|
|
|
NM_001267550.2(TTN):c.669+1G>T
|
|
|
|
NM_001267550.2(TTN):c.669+2T>C
|
|
|
|
NM_001267550.2(TTN):c.66906_66907del (p.Asp22304fs)
|
|
|
|
NM_001267550.2(TTN):c.66910_66911del (p.Asp22304fs)
|
|
|
|
NM_001267550.2(TTN):c.66931_66932del (p.Lys22311fs)
|
rs2154176398
|
|
|
NM_001267550.2(TTN):c.66937del (p.Thr22313fs)
|
|
|
|
NM_001267550.2(TTN):c.66941_66944dup (p.Phe22315fs)
|
rs2047435382
|
|
|
NM_001267550.2(TTN):c.66968del (p.Asn22323fs)
|
rs2154176360
|
|
|
NM_001267550.2(TTN):c.66981T>G (p.Tyr22327Ter)
|
rs2047426908
|
|
|
NM_001267550.2(TTN):c.66985dup (p.Ala22329fs)
|
|
|
|
NM_001267550.2(TTN):c.66del (p.Ala23fs)
|
|
|
|
NM_001267550.2(TTN):c.670-1G>A
|
rs1054895701
|
|
|
NM_001267550.2(TTN):c.67028dup (p.Glu22344fs)
|
|
|
|
NM_001267550.2(TTN):c.67057+1G>A
|
|
|
|
NM_001267550.2(TTN):c.67058-1G>A
|
|
|
|
NM_001267550.2(TTN):c.67058-1G>T
|
|
|
|
NM_001267550.2(TTN):c.67070_67071insTGTGACTGTATCCAGATAC (p.Pro22358fs)
|
rs2047381754
|
|
|
NM_001267550.2(TTN):c.67070del (p.Pro22357fs)
|
|
|
|
NM_001267550.2(TTN):c.67081dup (p.Val22361fs)
|
rs2047380262
|
|
|
NM_001267550.2(TTN):c.67109_67110del (p.Ser22370fs)
|
|
|
|
NM_001267550.2(TTN):c.67115_67116del (p.Tyr22372fs)
|
rs2154176111
|
|
|
NM_001267550.2(TTN):c.6712dup (p.Thr2238fs)
|
rs2092039557
|
|
|
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs)
|
rs1476017129
|
|
|
NM_001267550.2(TTN):c.67174C>T (p.Gln22392Ter)
|
rs2154176072
|
|
|
NM_001267550.2(TTN):c.67179del (p.Lys22393fs)
|
|
|
|
NM_001267550.2(TTN):c.67191del (p.Arg22398fs)
|
|
|
|
NM_001267550.2(TTN):c.67253T>A (p.Leu22418Ter)
|
|
|
|
NM_001267550.2(TTN):c.67256del (p.Glu22419fs)
|
|
|
|
NM_001267550.2(TTN):c.67266dup (p.Ser22423fs)
|
rs2154175989
|
|
|
NM_001267550.2(TTN):c.67276_67277del (p.Phe22426fs)
|
|
|
|
NM_001267550.2(TTN):c.67279del (p.Arg22427fs)
|
rs2154175979
|
|
|
NM_001267550.2(TTN):c.67297G>T (p.Glu22433Ter)
|
|
|
|
NM_001267550.2(TTN):c.67302T>A (p.Tyr22434Ter)
|
|
|
|
NM_001267550.2(TTN):c.67397C>A (p.Ser22466Ter)
|
rs2047280731
|
|
|
NM_001267550.2(TTN):c.67421del (p.Lys22474fs)
|
rs794729332
|
|
|
NM_001267550.2(TTN):c.67446del (p.Ile22483fs)
|
rs2154175760
|
|
|
NM_001267550.2(TTN):c.67458T>G (p.Tyr22486Ter)
|
|
|
|
NM_001267550.2(TTN):c.67490G>A (p.Trp22497Ter)
|
|
|
|
NM_001267550.2(TTN):c.67491G>A (p.Trp22497Ter)
|
|
|
|
NM_001267550.2(TTN):c.67492C>T (p.Gln22498Ter)
|
|
|
|
NM_001267550.2(TTN):c.67555del (p.Tyr22519fs)
|
rs2154175699
|
|
|
NM_001267550.2(TTN):c.67556_67559dup (p.Phe22521fs)
|
rs2154175692
|
|
|
NM_001267550.2(TTN):c.67570_67573del (p.Ser22524fs)
|
|
|
|
NM_001267550.2(TTN):c.67574del (p.Ala22525fs)
|
|
|
|
NM_001267550.2(TTN):c.67576G>T (p.Glu22526Ter)
|
rs2047236705
|
|
|
NM_001267550.2(TTN):c.67590_67591insCTCCATGGGCTCTTCTCTTGCTTTGAAAACTCCCCCTTTTCCCCTCTCCCTCTCCCTCTCCCTCTCCCCCTACCCCTCCCCCTCCCCCTCTCCCTCTNNNNNNNNNNAAAAACAAAAAAAAAAAAAAGAATGAAAATGGA (p.Glu22531fs)
|
rs2154175675
|
|
|
NM_001267550.2(TTN):c.67613del (p.Thr22538fs)
|
|
|
|
NM_001267550.2(TTN):c.67643_67655del (p.Pro22548fs)
|
|
|
|
NM_001267550.2(TTN):c.67655T>G (p.Leu22552Ter)
|
|
|
|
NM_001267550.2(TTN):c.67705_67706insLINE1
|
|
|
|
NM_001267550.2(TTN):c.67750del (p.Trp22584fs)
|
|
|
|
NM_001267550.2(TTN):c.67751G>A (p.Trp22584Ter)
|
|
|
|
NM_001267550.2(TTN):c.67762del (p.Glu22588fs)
|
rs2154175340
|
|
|
NM_001267550.2(TTN):c.67794del (p.Ser22598fs)
|
|
|
|
NM_001267550.2(TTN):c.67823_67824del (p.Leu22608fs)
|
|
|
|
NM_001267550.2(TTN):c.67833C>G (p.Tyr22611Ter)
|
|
|
|
NM_001267550.2(TTN):c.67840C>T (p.Gln22614Ter)
|
rs2154175288
|
|
|
NM_001267550.2(TTN):c.67873_67876dup (p.Lys22626delinsThrTer)
|
|
|
|
NM_001267550.2(TTN):c.67897G>T (p.Glu22633Ter)
|
rs1553621179
|
|
|
NM_001267550.2(TTN):c.6790+1G>T
|
|
|
|
NM_001267550.2(TTN):c.67900_67901del (p.Gly22634fs)
|
|
|
|
NM_001267550.2(TTN):c.67901_67904dup (p.Ile22636fs)
|
|
|
|
NM_001267550.2(TTN):c.67906_67909dup (p.Ser22637fs)
|
|
|
|
NM_001267550.2(TTN):c.67952_67955del (p.Ile22651fs)
|
|
|
|
NM_001267550.2(TTN):c.67973_67992dup (p.Trp22665delinsGlnLysProTer)
|
|
|
|
NM_001267550.2(TTN):c.67994G>A (p.Trp22665Ter)
|
|
|
|
NM_001267550.2(TTN):c.68022dup (p.Glu22675Ter)
|
|
|
|
NM_001267550.2(TTN):c.68087C>A (p.Ser22696Ter)
|
|
|
|
NM_001267550.2(TTN):c.68108_68109del (p.Thr22702_Phe22703insTer)
|
rs2154175051
|
|
|
NM_001267550.2(TTN):c.68137G>T (p.Glu22713Ter)
|
|
|
|
NM_001267550.2(TTN):c.68169_68171dup (p.Tyr22724Ter)
|
|
|
|
NM_001267550.2(TTN):c.68197G>T (p.Glu22733Ter)
|
|
|
|
NM_001267550.2(TTN):c.68224+1G>A
|
rs754250350
|
|
|
NM_001267550.2(TTN):c.68225-1G>A
|
|
|
|
NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs)
|
rs1085307600
|
|
|
NM_001267550.2(TTN):c.68262_68266del (p.Asp22754fs)
|
|
|
|
NM_001267550.2(TTN):c.68269del (p.His22757fs)
|
rs2154174822
|
|
|
NM_001267550.2(TTN):c.68308del (p.Thr22770fs)
|
rs1064796112
|
|
|
NM_001267550.2(TTN):c.68323dup (p.Ile22775fs)
|
|
|
|
NM_001267550.2(TTN):c.68325dup (p.Thr22776fs)
|
rs1575853060
|
|
|
NM_001267550.2(TTN):c.68329+2T>C
|
|
|
|
NM_001267550.2(TTN):c.68336_68340dup (p.Glu22781fs)
|
|
|
|
NM_001267550.2(TTN):c.68349_68356del (p.Glu22784fs)
|
rs2154174313
|
|
|
NM_001267550.2(TTN):c.68404_68405dup (p.Asp22802fs)
|
|
|
|
NM_001267550.2(TTN):c.68410_68411insTCGGTTA (p.Lys22804delinsIleGlyTer)
|
rs2154174273
|
|
|
NM_001267550.2(TTN):c.68427del (p.Glu22810fs)
|
|
|
|
NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter)
|
rs200797552
|
|
|
NM_001267550.2(TTN):c.68452del (p.Val22818fs)
|
|
|
|
NM_001267550.2(TTN):c.6846T>A (p.Tyr2282Ter)
|
|
|
|
NM_001267550.2(TTN):c.68508dup (p.Val22837fs)
|
rs1064793845
|
|
|
NM_001267550.2(TTN):c.68527+1G>T
|
|
|
|
NM_001267550.2(TTN):c.68575_68576dup (p.Ile22861fs)
|
|
|
|
NM_001267550.2(TTN):c.6857del (p.Glu2285_Leu2286insTer)
|
rs2154345136
|
|
|
NM_001267550.2(TTN):c.68606del (p.Gly22869fs)
|
|
|
|
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter)
|
rs1213930919
|
|
|
NM_001267550.2(TTN):c.68654dup (p.Lys22886fs)
|
rs2154174012
|
|
|
NM_001267550.2(TTN):c.68663G>A (p.Trp22888Ter)
|
rs2154174003
|
|
|
NM_001267550.2(TTN):c.68664G>A (p.Trp22888Ter)
|
rs2046761831
|
|
|
NM_001267550.2(TTN):c.68732_68735dup (p.Tyr22912Ter)
|
|
|
|
NM_001267550.2(TTN):c.68733dup (p.Tyr22912fs)
|
|
|
|
NM_001267550.2(TTN):c.68759del (p.Asn22920fs)
|
|
|
|
NM_001267550.2(TTN):c.68768del (p.Gly22923fs)
|
|
|
|
NM_001267550.2(TTN):c.68773_68776dup (p.Ser22926fs)
|
|
|
|
NM_001267550.2(TTN):c.68800del (p.Thr22934fs)
|
|
|
|
NM_001267550.2(TTN):c.68807_68810dup (p.Lys22938fs)
|
rs2046739414
|
|
|
NM_001267550.2(TTN):c.68823C>G (p.Tyr22941Ter)
|
|
|
|
NM_001267550.2(TTN):c.68824+1G>A
|
rs112484439
|
|
|
NM_001267550.2(TTN):c.68824+1del
|
|
|
|
NM_001267550.2(TTN):c.68854del (p.Thr22951_Ile22952insTer)
|
|
|
|
NM_001267550.2(TTN):c.68859_68862dup (p.Gly22955fs)
|
rs2154173774
|
|
|
NM_001267550.2(TTN):c.68875A>T (p.Lys22959Ter)
|
rs2154173767
|
|
|
NM_001267550.2(TTN):c.68876_68883del (p.Lys22959fs)
|
rs1575832346
|
|
|
NM_001267550.2(TTN):c.68899_68903del (p.Asn22967fs)
|
|
|
|
NM_001267550.2(TTN):c.68934dup (p.Ser22979fs)
|
|
|
|
NM_001267550.2(TTN):c.68936C>A (p.Ser22979Ter)
|
rs2154173745
|
|
|
NM_001267550.2(TTN):c.68941del (p.Trp22981fs)
|
rs1575831755
|
|
|
NM_001267550.2(TTN):c.68943G>A (p.Trp22981Ter)
|
rs1553617378
|
|
|
NM_001267550.2(TTN):c.6897G>A (p.Trp2299Ter)
|
|
|
|
NM_001267550.2(TTN):c.68992del (p.Ser22998fs)
|
|
|
|
NM_001267550.2(TTN):c.68995del (p.Thr22999fs)
|
rs1064796389
|
|
|
NM_001267550.2(TTN):c.69104dup (p.Thr23036fs)
|
rs1559469421
|
|
|
NM_001267550.2(TTN):c.69105_69108dup (p.Val23037fs)
|
|
|
|
NM_001267550.2(TTN):c.69131del (p.Pro23044fs)
|
rs2154173603
|
|
|
NM_001267550.2(TTN):c.69186_69187del (p.Pro23063fs)
|
|
|
|
NM_001267550.2(TTN):c.69196G>T (p.Glu23066Ter)
|
|
|
|
NM_001267550.2(TTN):c.69209C>A (p.Ser23070Ter)
|
|
|
|
NM_001267550.2(TTN):c.69215_69218dup (p.Lys23073delinsAsnTer)
|
|
|
|
NM_001267550.2(TTN):c.69217_69218del (p.Lys23073fs)
|
|
|
|
NM_001267550.2(TTN):c.69234_69238del (p.Lys23079fs)
|
rs2046600751
|
|
|
NM_001267550.2(TTN):c.69241_69242del (p.Glu23081fs)
|
rs1575826940
|
|
|
NM_001267550.2(TTN):c.69250C>T (p.Arg23084Ter)
|
rs794729281
|
|
|
NM_001267550.2(TTN):c.69256_69257dup (p.Leu23086fs)
|
rs1553616622
|
|
|
NM_001267550.2(TTN):c.69257del (p.Leu23086fs)
|
|
|
|
NM_001267550.2(TTN):c.69261G>A (p.Trp23087Ter)
|
|
|
|
NM_001267550.2(TTN):c.69263_69264del (p.Thr23088fs)
|
|
|
|
NM_001267550.2(TTN):c.69291C>A (p.Cys23097Ter)
|
|
|
|
NM_001267550.2(TTN):c.69292_69299dup (p.Ala23101fs)
|
|
|
|
NM_001267550.2(TTN):c.69325G>T (p.Glu23109Ter)
|
|
|
|
NM_001267550.2(TTN):c.69340del (p.Val23114fs)
|
rs2046581341
|
|
|
NM_001267550.2(TTN):c.69379C>T (p.Gln23127Ter)
|
|
|
|
NM_001267550.2(TTN):c.69380_69381insCCAACTATATCCTAGAGAAGAGGGATTCTGTGAACAACAAGTGGGTGACGTGCGCCTCAGCTGTCCAGAAAACCACCTTTAGAGTAACCAGACTTCATGAGGGCATGGAATATACCTTCAGGGTCAGTGCCGAAAATAAATATGGTGTAGGGGAAGGCCTGAAATCGGAGCCAATTGTTGCGAGACATCCATTTGGTAAGTGTCTTAAATTCAGAAGACGTAAAGCAAAACACGGTTTTGAGGAGGCTTCTTATTTGACA (p.Gln23127delinsHisGlnLeuTyrProArgGluGluGlyPheCysGluGlnGlnValGlyAspValArgLeuSerCysProGluAsnHisLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.69387del (p.Glu23129fs)
|
rs2154173437
|
|
|
NM_001267550.2(TTN):c.69402dup (p.Asp23135fs)
|
|
|
|
NM_001267550.2(TTN):c.69412+1G>A
|
rs869312074
|
|
|
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs)
|
rs1247353236
|
|
|
NM_001267550.2(TTN):c.69422_69426delinsAAAAGGACCC (p.Gly23141fs)
|
rs2046539116
|
|
|
NM_001267550.2(TTN):c.69435dup (p.Pro23146fs)
|
|
|
|
NM_001267550.2(TTN):c.69479G>A (p.Trp23160Ter)
|
rs2154173285
|
|
|
NM_001267550.2(TTN):c.69491_69492del (p.Val23164fs)
|
rs869312113
|
|
|
NM_001267550.2(TTN):c.69497dup (p.Asp23166fs)
|
|
|
|
NM_001267550.2(TTN):c.69513del (p.Thr23172fs)
|
|
|
|
NM_001267550.2(TTN):c.69521_69525dup (p.Val23176fs)
|
rs2154173232
|
|
|
NM_001267550.2(TTN):c.69557G>A (p.Trp23186Ter)
|
|
|
|
NM_001267550.2(TTN):c.69558G>A (p.Trp23186Ter)
|
rs1575821175
|
|
|
NM_001267550.2(TTN):c.69571_69592dup (p.Arg23198fs)
|
rs2046499843
|
|
|
NM_001267550.2(TTN):c.69584_69585insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACACCAGTTTC (p.Ser23195_Asp23196insAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.69602dup (p.Thr23202fs)
|
|
|
|
NM_001267550.2(TTN):c.69613C>T (p.Gln23205Ter)
|
|
|
|
NM_001267550.2(TTN):c.69613_69616dup (p.Glu23206fs)
|
rs2154173163
|
|
|
NM_001267550.2(TTN):c.69662del (p.Gly23221fs)
|
|
|
|
NM_001267550.2(TTN):c.69759del (p.Lys23254fs)
|
|
|
|
NM_001267550.2(TTN):c.69811G>T (p.Glu23271Ter)
|
rs1213132001
|
|
|
NM_001267550.2(TTN):c.69815del (p.Ile23272fs)
|
|
|
|
NM_001267550.2(TTN):c.69838C>T (p.Gln23280Ter)
|
rs1710057805
|
|
|
NM_001267550.2(TTN):c.69860G>A (p.Trp23287Ter)
|
rs869067204
|
|
|
NM_001267550.2(TTN):c.69861G>A (p.Trp23287Ter)
|
|
|
|
NM_001267550.2(TTN):c.69866_69869dup (p.Asp23290fs)
|
rs2154172862
|
|
|
NM_001267550.2(TTN):c.69871del (p.Thr23291fs)
|
|
|
|
NM_001267550.2(TTN):c.69872_69873del (p.Thr23291fs)
|
|
|
|
NM_001267550.2(TTN):c.69923_69926dup (p.Lys23309delinsAsnTer)
|
rs2154172827
|
|
|
NM_001267550.2(TTN):c.69937_69938insGAAAAATACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAA (p.Asn23313delinsArgLysIleGlnAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.69937_69938insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAAATACA (p.Tyr23312_Asn23313insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluLysTyr)
|
|
|
|
NM_001267550.2(TTN):c.69968del (p.Gly23323fs)
|
|
|
|
NM_001267550.2(TTN):c.69972del (p.Glu23326fs)
|
|
|
|
NM_001267550.2(TTN):c.69978del (p.Glu23326fs)
|
|
|
|
NM_001267550.2(TTN):c.69999del (p.Glu23334fs)
|
|
|
|
NM_001267550.2(TTN):c.70015del (p.Glu23339fs)
|
|
|
|
NM_001267550.2(TTN):c.70025del (p.Pro23342fs)
|
|
|
|
NM_001267550.2(TTN):c.70032dup (p.Glu23345Ter)
|
|
|
|
NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter)
|
rs1060500575
|
|
|
NM_001267550.2(TTN):c.7005dup (p.Tyr2336fs)
|
|
|
|
NM_001267550.2(TTN):c.70083_70086dup (p.Arg23363delinsTyrTer)
|
|
|
|
NM_001267550.2(TTN):c.70115del (p.Pro23372fs)
|
|
|
|
NM_001267550.2(TTN):c.70133G>A (p.Trp23378Ter)
|
|
|
|
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter)
|
rs781540455
|
|
|
NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs)
|
rs1553614347
|
|
|
NM_001267550.2(TTN):c.70215dup (p.Asn23406Ter)
|
rs1553614378
|
|
|
NM_001267550.2(TTN):c.70222del (p.Tyr23408fs)
|
rs2154172616
|
|
|
NM_001267550.2(TTN):c.70224T>A (p.Tyr23408Ter)
|
rs908321623
|
|
|
NM_001267550.2(TTN):c.7026del (p.Lys2344fs)
|
rs1211627330
|
|
|
NM_001267550.2(TTN):c.70270A>T (p.Lys23424Ter)
|
|
|
|
NM_001267550.2(TTN):c.70293_70294del (p.Arg23431fs)
|
|
|
|
NM_001267550.2(TTN):c.7031dup (p.Thr2345fs)
|
rs2091933920
|
|
|
NM_001267550.2(TTN):c.70346del (p.Lys23449fs)
|
rs2154172536
|
|
|
NM_001267550.2(TTN):c.70379_70382dup (p.Gly23463fs)
|
rs2154172514
|
|
|
NM_001267550.2(TTN):c.70388del (p.Gly23463fs)
|
rs2154172507
|
|
|
NM_001267550.2(TTN):c.70401_70402dup (p.Thr23468fs)
|
|
|
|
NM_001267550.2(TTN):c.7042_7045dup (p.Leu2349Ter)
|
|
|
|
NM_001267550.2(TTN):c.70437del (p.Lys23480fs)
|
rs2154172462
|
|
|
NM_001267550.2(TTN):c.70467C>A (p.Cys23489Ter)
|
rs2154172442
|
|
|
NM_001267550.2(TTN):c.70482_70483del (p.Tyr23494_Lys23495delinsTer)
|
|
|
|
NM_001267550.2(TTN):c.70491del (p.Gly23498fs)
|
rs2154172422
|
|
|
NM_001267550.2(TTN):c.70501G>T (p.Glu23501Ter)
|
rs1709809170
|
|
|
NM_001267550.2(TTN):c.70524_70525del (p.Arg23508fs)
|
|
|
|
NM_001267550.2(TTN):c.7057+1G>C
|
|
|
|
NM_001267550.2(TTN):c.7057+1del
|
|
|
|
NM_001267550.2(TTN):c.7057+2T>C
|
rs2154345049
|
|
|
NM_001267550.2(TTN):c.70571_70572dup (p.Glu23525fs)
|
rs1709775754
|
|
|
NM_001267550.2(TTN):c.70629_70632dup (p.Thr23545fs)
|
rs2154172318
|
|
|
NM_001267550.2(TTN):c.70656_70660del (p.Ala23552_Trp23553insTer)
|
|
|
|
NM_001267550.2(TTN):c.70659G>A (p.Trp23553Ter)
|
|
|
|
NM_001267550.2(TTN):c.70701T>A (p.Tyr23567Ter)
|
|
|
|
NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter)
|
rs1559449398
|
|
|
NM_001267550.2(TTN):c.70737G>A (p.Trp23579Ter)
|
|
|
|
NM_001267550.2(TTN):c.70745dup (p.Thr23583fs)
|
rs1559448864
|
|
|
NM_001267550.2(TTN):c.70754dup (p.Lys23586fs)
|
|
|
|
NM_001267550.2(TTN):c.70763T>G (p.Leu23588Ter)
|
rs1553612999
|
|
|
NM_001267550.2(TTN):c.70785_70788dup (p.Glu23597delinsAsnTer)
|
rs2154172210
|
|
|
NM_001267550.2(TTN):c.70814_70815insTT (p.Val23605_Met23606insTer)
|
rs1709673176
|
|
|
NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter)
|
rs1575799625
|
|
|
NM_001267550.2(TTN):c.70897dup (p.Leu23633fs)
|
rs1709631095
|
|
|
NM_001267550.2(TTN):c.70915_70918del (p.Tyr23639fs)
|
|
|
|
NM_001267550.2(TTN):c.70917T>A (p.Tyr23639Ter)
|
|
|
|
NM_001267550.2(TTN):c.70918C>T (p.Gln23640Ter)
|
|
|
|
NM_001267550.2(TTN):c.70920_70923dup (p.Leu23642fs)
|
|
|
|
NM_001267550.2(TTN):c.70922_70923delinsG (p.Lys23641fs)
|
rs1709617800
|
|
|
NM_001267550.2(TTN):c.70935del (p.Ala23647fs)
|
|
|
|
NM_001267550.2(TTN):c.70936A>T (p.Lys23646Ter)
|
rs2154172066
|
|
|
NM_001267550.2(TTN):c.70957del (p.Val23653fs)
|
rs2154172050
|
|
|
NM_001267550.2(TTN):c.71002A>T (p.Lys23668Ter)
|
rs1553612321
|
|
|
NM_001267550.2(TTN):c.71024_71027del (p.Lys23675fs)
|
rs1709577304
|
|
|
NM_001267550.2(TTN):c.71026C>T (p.Gln23676Ter)
|
|
|
|
NM_001267550.2(TTN):c.71035_71038del (p.Arg23679fs)
|
rs1575797171
|
|
|
NM_001267550.2(TTN):c.71037_71038del (p.Arg23679fs)
|
|
|
|
NM_001267550.2(TTN):c.71045_71046del (p.Asn23681_Phe23682insTer)
|
rs2154171990
|
|
|
NM_001267550.2(TTN):c.7104_7105del (p.Cys2368_Glu2369delinsTer)
|
rs2154344972
|
|
|
NM_001267550.2(TTN):c.71117del (p.Pro23705_Leu23706insTer)
|
|
|
|
NM_001267550.2(TTN):c.71126_71127delinsA (p.Arg23709fs)
|
rs1709548356
|
|
|
NM_001267550.2(TTN):c.71146_71156del (p.Gly23716fs)
|
rs2154171911
|
|
|
NM_001267550.2(TTN):c.71164C>T (p.Gln23722Ter)
|
|
|
|
NM_001267550.2(TTN):c.71201_71204del (p.Ile23734fs)
|
rs2154171881
|
|
|
NM_001267550.2(TTN):c.71237del (p.Phe23746fs)
|
|
|
|
NM_001267550.2(TTN):c.71242del (p.Trp23748fs)
|
rs1060500514
|
|
|
NM_001267550.2(TTN):c.71244G>A (p.Trp23748Ter)
|
|
|
|
NM_001267550.2(TTN):c.71302C>T (p.Gln23768Ter)
|
|
|
|
NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter)
|
rs727503567
|
|
|
NM_001267550.2(TTN):c.71351_71352insGGTA (p.Thr23785fs)
|
rs2154171770
|
|
|
NM_001267550.2(TTN):c.71356dup (p.Tyr23786fs)
|
rs2154171765
|
|
|
NM_001267550.2(TTN):c.71365del (p.Thr23789fs)
|
|
|
|
NM_001267550.2(TTN):c.71365dup (p.Thr23789fs)
|
|
|
|
NM_001267550.2(TTN):c.71378_71385del (p.Thr23793fs)
|
rs1709461632
|
|
|
NM_001267550.2(TTN):c.71407del (p.Ala23803fs)
|
|
|
|
NM_001267550.2(TTN):c.71421T>G (p.Tyr23807Ter)
|
|
|
|
NM_001267550.2(TTN):c.71425del (p.Val23809fs)
|
|
|
|
NM_001267550.2(TTN):c.71476del (p.Val23826fs)
|
|
|
|
NM_001267550.2(TTN):c.7148del (p.Ser2383fs)
|
rs1060500437
|
|
|
NM_001267550.2(TTN):c.71525C>G (p.Ser23842Ter)
|
|
|
|
NM_001267550.2(TTN):c.71528_71531dup (p.Ile23845fs)
|
|
|
|
NM_001267550.2(TTN):c.71540G>A (p.Trp23847Ter)
|
|
|
|
NM_001267550.2(TTN):c.71542_71564dup (p.Ser23856fs)
|
rs2154171645
|
|
|
NM_001267550.2(TTN):c.71550del (p.Leu23851fs)
|
|
|
|
NM_001267550.2(TTN):c.71563G>T (p.Gly23855Ter)
|
rs794729381
|
|
|
NM_001267550.2(TTN):c.71583T>A (p.Tyr23861Ter)
|
|
|
|
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)
|
rs397517689
|
|
|
NM_001267550.2(TTN):c.71619G>A (p.Trp23873Ter)
|
|
|
|
NM_001267550.2(TTN):c.71634del (p.Ala23879fs)
|
rs727503565
|
|
|
NM_001267550.2(TTN):c.7163G>A (p.Trp2388Ter)
|
|
|
|
NM_001267550.2(TTN):c.71685_71686insAAATA (p.Ala23896delinsLysTer)
|
rs1709360511
|
|
|
NM_001267550.2(TTN):c.71690_71691dup (p.Glu23898fs)
|
rs2154171550
|
|
|
NM_001267550.2(TTN):c.71706del (p.Ile23902fs)
|
rs2154171534
|
|
|
NM_001267550.2(TTN):c.7177C>T (p.Gln2393Ter)
|
rs2154344933
|
|
|
NM_001267550.2(TTN):c.71835G>A (p.Trp23945Ter)
|
rs1217858818
|
|
|
NM_001267550.2(TTN):c.71848_71855dup (p.Gly23953fs)
|
rs1254650118
|
|
|
NM_001267550.2(TTN):c.71869del (p.Thr23957fs)
|
|
|
|
NM_001267550.2(TTN):c.71912G>A (p.Trp23971Ter)
|
|
|
|
NM_001267550.2(TTN):c.71990del (p.Phe23997fs)
|
|
|
|
NM_001267550.2(TTN):c.72009del (p.Asn24003fs)
|
|
|
|
NM_001267550.2(TTN):c.72010del (p.Ala24004fs)
|
|
|
|
NM_001267550.2(TTN):c.72025_72035del (p.Ile24008_Ser24009insTer)
|
|
|
|
NM_001267550.2(TTN):c.72041dup (p.Ser24015fs)
|
|
|
|
NM_001267550.2(TTN):c.72088A>T (p.Lys24030Ter)
|
rs1709195189
|
|
|
NM_001267550.2(TTN):c.72130_72133del (p.Gly24044fs)
|
rs2154171220
|
|
|
NM_001267550.2(TTN):c.72226_72229dup (p.Glu24077fs)
|
|
|
|
NM_001267550.2(TTN):c.7222_7223del (p.Gln2408fs)
|
rs794729370
|
|
|
NM_001267550.2(TTN):c.72280del (p.Arg24094fs)
|
|
|
|
NM_001267550.2(TTN):c.72307dup (p.Thr24103fs)
|
|
|
|
NM_001267550.2(TTN):c.72310_72317del (p.Ala24104fs)
|
|
|
|
NM_001267550.2(TTN):c.72339_72340del (p.Ile24114fs)
|
rs1559429489
|
|
|
NM_001267550.2(TTN):c.72356_72371dup (p.Gly24124_Pro24125insSerTer)
|
|
|
|
NM_001267550.2(TTN):c.72379G>T (p.Glu24127Ter)
|
|
|
|
NM_001267550.2(TTN):c.72397del (p.Thr24133fs)
|
rs2154171047
|
|
|
NM_001267550.2(TTN):c.72410C>A (p.Ser24137Ter)
|
|
|
|
NM_001267550.2(TTN):c.72433_72434insGA (p.Phe24145Ter)
|
rs1709055431
|
|
|
NM_001267550.2(TTN):c.72441_72442del (p.Leu24148fs)
|
|
|
|
NM_001267550.2(TTN):c.72463del (p.Ile24155fs)
|
|
|
|
NM_001267550.2(TTN):c.72509G>A (p.Trp24170Ter)
|
rs2154170981
|
|
|
NM_001267550.2(TTN):c.72526G>T (p.Glu24176Ter)
|
|
|
|
NM_001267550.2(TTN):c.72542dup (p.Leu24182fs)
|
rs1709014153
|
|
|
NM_001267550.2(TTN):c.72574G>T (p.Glu24192Ter)
|
rs2154170941
|
|
|
NM_001267550.2(TTN):c.72612_72616del (p.Val24205fs)
|
rs2154170904
|
|
|
NM_001267550.2(TTN):c.72613del (p.Val24205fs)
|
rs1708996209
|
|
|
NM_001267550.2(TTN):c.72630dup (p.Ser24211fs)
|
|
|
|
NM_001267550.2(TTN):c.72635_72636del (p.Glu24212fs)
|
|
|
|
NM_001267550.2(TTN):c.72661G>T (p.Gly24221Ter)
|
|
|
|
NM_001267550.2(TTN):c.72668dup (p.Pro24223_Asp24224insTer)
|
|
|
|
NM_001267550.2(TTN):c.72728G>A (p.Trp24243Ter)
|
|
|
|
NM_001267550.2(TTN):c.72730G>T (p.Gly24244Ter)
|
rs1708937897
|
|
|
NM_001267550.2(TTN):c.72756del (p.Ser24252fs)
|
|
|
|
NM_001267550.2(TTN):c.7275C>G (p.Tyr2425Ter)
|
|
|
|
NM_001267550.2(TTN):c.72767dup (p.Asn24256fs)
|
|
|
|
NM_001267550.2(TTN):c.72771dup (p.Ile24258fs)
|
|
|
|
NM_001267550.2(TTN):c.72816C>A (p.Cys24272Ter)
|
|
|
|
NM_001267550.2(TTN):c.72826del (p.Thr24276fs)
|
rs971618751
|
|
|
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs)
|
rs751319893
|
|
|
NM_001267550.2(TTN):c.72828del (p.Thr24278fs)
|
|
|
|
NM_001267550.2(TTN):c.72839T>G (p.Leu24280Ter)
|
|
|
|
NM_001267550.2(TTN):c.72848_72849del (p.Lys24283fs)
|
rs794729339
|
|
|
NM_001267550.2(TTN):c.72867del (p.Gly24290fs)
|
rs2154170719
|
|
|
NM_001267550.2(TTN):c.72873del (p.His24291fs)
|
rs1575772360
|
|
|
NM_001267550.2(TTN):c.72926del (p.Ser24309fs)
|
|
|
|
NM_001267550.2(TTN):c.72935_72939del (p.Ser24312fs)
|
rs2154170669
|
|
|
NM_001267550.2(TTN):c.72945C>G (p.Tyr24315Ter)
|
rs879087983
|
|
|
NM_001267550.2(TTN):c.72956_72963del (p.Asp24319fs)
|
rs1064793876
|
|
|
NM_001267550.2(TTN):c.72963_72964del (p.Val24321_Phe24322insTer)
|
rs1708864326
|
|
|
NM_001267550.2(TTN):c.73044_73047dup (p.Asp24350delinsLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.73046_73047del (p.Ile24348_Tyr24349insTer)
|
rs1708834541
|
|
|
NM_001267550.2(TTN):c.73047T>G (p.Tyr24349Ter)
|
rs2154170589
|
|
|
NM_001267550.2(TTN):c.73075_73076dup (p.Met24359fs)
|
rs1575769723
|
|
|
NM_001267550.2(TTN):c.73105_73115del (p.Glu24369fs)
|
rs2154170535
|
|
|
NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter)
|
rs869312115
|
|
|
NM_001267550.2(TTN):c.73110G>A (p.Trp24370Ter)
|
|
|
|
NM_001267550.2(TTN):c.73148C>A (p.Ser24383Ter)
|
|
|
|
NM_001267550.2(TTN):c.73156_73159dup (p.Thr24387fs)
|
rs2154170500
|
|
|
NM_001267550.2(TTN):c.73175_73178dup (p.Glu24394fs)
|
rs2154170480
|
|
|
NM_001267550.2(TTN):c.73180G>T (p.Glu24394Ter)
|
|
|
|
NM_001267550.2(TTN):c.73200T>A (p.Tyr24400Ter)
|
|
|
|
NM_001267550.2(TTN):c.73200del (p.Ile24399_Tyr24400insTer)
|
|
|
|
NM_001267550.2(TTN):c.73210del (p.Ser24404fs)
|
|
|
|
NM_001267550.2(TTN):c.73218_73222dup (p.Gly24408fs)
|
|
|
|
NM_001267550.2(TTN):c.73244del (p.Gly24415fs)
|
rs1708759700
|
|
|
NM_001267550.2(TTN):c.73285G>T (p.Glu24429Ter)
|
rs373773552
|
|
|
NM_001267550.2(TTN):c.7330+1_7330+8del
|
|
|
|
NM_001267550.2(TTN):c.7331-1G>A
|
|
|
|
NM_001267550.2(TTN):c.73324_73328delinsC (p.Ala24442fs)
|
rs1553607562
|
|
|
NM_001267550.2(TTN):c.73324_73331dup (p.Cys24444fs)
|
|
|
|
NM_001267550.2(TTN):c.7332dup (p.Val2445fs)
|
|
|
|
NM_001267550.2(TTN):c.73346_73347del (p.Phe24449fs)
|
rs2154170352
|
|
|
NM_001267550.2(TTN):c.73347del (p.Phe24449fs)
|
rs2154170352
|
|
|
NM_001267550.2(TTN):c.73348del (p.Val24450fs)
|
|
|
|
NM_001267550.2(TTN):c.73387del (p.Ala24463fs)
|
rs1553607425
|
|
|
NM_001267550.2(TTN):c.73402del (p.Glu24468fs)
|
|
|
|
NM_001267550.2(TTN):c.73411_73414del (p.Asp24471fs)
|
rs1708673550
|
|
|
NM_001267550.2(TTN):c.73426G>T (p.Glu24476Ter)
|
rs760487688
|
|
|
NM_001267550.2(TTN):c.73444del (p.Thr24482fs)
|
|
|
|
NM_001267550.2(TTN):c.73508del (p.Asn24503fs)
|
rs886038839
|
|
|
NM_001267550.2(TTN):c.73522A>T (p.Lys24508Ter)
|
|
|
|
NM_001267550.2(TTN):c.73543dup (p.Arg24515fs)
|
rs2154170227
|
|
|
NM_001267550.2(TTN):c.73557_73558dup (p.Pro24520fs)
|
rs1559415816
|
|
|
NM_001267550.2(TTN):c.73568del (p.Pro24523fs)
|
rs1559415567
|
|
|
NM_001267550.2(TTN):c.73568dup (p.Gln24524fs)
|
|
|
|
NM_001267550.2(TTN):c.73581_73585del (p.Val24528fs)
|
rs1708609129
|
|
|
NM_001267550.2(TTN):c.73619G>A (p.Trp24540Ter)
|
|
|
|
NM_001267550.2(TTN):c.73620G>A (p.Trp24540Ter)
|
rs2154170160
|
|
|
NM_001267550.2(TTN):c.73646C>G (p.Ser24549Ter)
|
|
|
|
NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs)
|
rs794729397
|
|
|
NM_001267550.2(TTN):c.73687A>T (p.Arg24563Ter)
|
|
|
|
NM_001267550.2(TTN):c.73734G>A (p.Trp24578Ter)
|
rs753105114
|
|
|
NM_001267550.2(TTN):c.73735_73738del (p.Trp24578_Lys24579insTer)
|
|
|
|
NM_001267550.2(TTN):c.73750C>T (p.Gln24584Ter)
|
|
|
|
NM_001267550.2(TTN):c.73792G>T (p.Glu24598Ter)
|
rs1708526179
|
|
|
NM_001267550.2(TTN):c.73828_73835del (p.Val24611fs)
|
rs1708504899
|
|
|
NM_001267550.2(TTN):c.73845del (p.Glu24615fs)
|
rs397517696
|
|
|
NM_001267550.2(TTN):c.73867dup (p.Ile24623fs)
|
|
|
|
NM_001267550.2(TTN):c.73911G>A (p.Trp24637Ter)
|
rs1708468046
|
|
|
NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter)
|
rs2154169928
|
|
|
NM_001267550.2(TTN):c.73974_73978del (p.Lys24658_Gly24659insTer)
|
rs2154169901
|
|
|
NM_001267550.2(TTN):c.73975_74029del (p.Gly24659fs)
|
|
|
|
NM_001267550.2(TTN):c.73998T>A (p.Cys24666Ter)
|
|
|
|
NM_001267550.2(TTN):c.74015del (p.Thr24672fs)
|
|
|
|
NM_001267550.2(TTN):c.74033_74036del (p.Gly24678fs)
|
rs2154169838
|
|
|
NM_001267550.2(TTN):c.74041C>T (p.Gln24681Ter)
|
rs1575756767
|
|
|
NM_001267550.2(TTN):c.74074C>T (p.Gln24692Ter)
|
|
|
|
NM_001267550.2(TTN):c.74099_74124del (p.Pro24700fs)
|
rs1708368133
|
|
|
NM_001267550.2(TTN):c.74112dup (p.Val24705fs)
|
|
|
|
NM_001267550.2(TTN):c.74202dup (p.Val24735fs)
|
rs2154169694
|
|
|
NM_001267550.2(TTN):c.74246G>A (p.Trp24749Ter)
|
|
|
|
NM_001267550.2(TTN):c.74258del (p.Asn24753fs)
|
rs2154169665
|
|
|
NM_001267550.2(TTN):c.7433G>A (p.Trp2478Ter)
|
rs1561254509
|
|
|
NM_001267550.2(TTN):c.74358del (p.His24785_Tyr24786insTer)
|
rs1708277443
|
|
|
NM_001267550.2(TTN):c.74367del (p.Lys24789fs)
|
rs2154169575
|
|
|
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer)
|
rs1064796390
|
|
|
NM_001267550.2(TTN):c.74370_74373del (p.Asn24792fs)
|
|
|
|
NM_001267550.2(TTN):c.74374_74377dup (p.Ser24793Ter)
|
|
|
|
NM_001267550.2(TTN):c.74452dup (p.Met24818fs)
|
rs2154169509
|
|
|
NM_001267550.2(TTN):c.74490G>A (p.Trp24830Ter)
|
rs1708235406
|
|
|
NM_001267550.2(TTN):c.7450C>T (p.Gln2484Ter)
|
rs2091844239
|
|
|
NM_001267550.2(TTN):c.74532del (p.Asn24843_Tyr24844insTer)
|
rs2154169439
|
|
|
NM_001267550.2(TTN):c.74536del (p.Val24846fs)
|
rs1553605154
|
|
|
NM_001267550.2(TTN):c.74569C>T (p.Gln24857Ter)
|
|
|
|
NM_001267550.2(TTN):c.74575del (p.Val24859fs)
|
|
|
|
NM_001267550.2(TTN):c.74585del (p.Thr24862fs)
|
|
|
|
NM_001267550.2(TTN):c.74608del (p.Ala24870fs)
|
rs878854332
|
|
|
NM_001267550.2(TTN):c.74613C>A (p.Cys24871Ter)
|
|
|
|
NM_001267550.2(TTN):c.74638C>T (p.Gln24880Ter)
|
rs1553604869
|
|
|
NM_001267550.2(TTN):c.74677_74678dup (p.Tyr24894fs)
|
rs2154169318
|
|
|
NM_001267550.2(TTN):c.74716_74719del (p.Phe24906fs)
|
rs2154169290
|
|
|
NM_001267550.2(TTN):c.74767dup (p.Asp24923fs)
|
rs1343078144
|
|
|
NM_001267550.2(TTN):c.74848del (p.Arg24950fs)
|
rs2154169198
|
|
|
NM_001267550.2(TTN):c.74851_74854dup (p.Ser24952delinsLysTer)
|
|
|
|
NM_001267550.2(TTN):c.74852del (p.Asn24951fs)
|
|
|
|
NM_001267550.2(TTN):c.7493del (p.Thr2498fs)
|
rs2154344697
|
|
|
NM_001267550.2(TTN):c.74987_74991dup (p.Ser24998fs)
|
rs1553604316
|
|
|
NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter)
|
rs1561253718
|
|
|
NM_001267550.2(TTN):c.74995_74996del (p.Glu24999fs)
|
rs1708041287
|
|
|
NM_001267550.2(TTN):c.75080G>A (p.Trp25027Ter)
|
|
|
|
NM_001267550.2(TTN):c.75106_75110del (p.Ser25036fs)
|
rs2154169014
|
|
|
NM_001267550.2(TTN):c.75139G>T (p.Glu25047Ter)
|
|
|
|
NM_001267550.2(TTN):c.75148G>T (p.Glu25050Ter)
|
rs770754919
|
|
|
NM_001267550.2(TTN):c.7516C>T (p.Arg2506Ter)
|
rs780415493
|
|
|
NM_001267550.2(TTN):c.75198del (p.Phe25066fs)
|
|
|
|
NM_001267550.2(TTN):c.75231T>A (p.Tyr25077Ter)
|
rs750699540
|
|
|
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter)
|
rs794729286
|
|
|
NM_001267550.2(TTN):c.75267_75270dup (p.Ser25091delinsValTer)
|
|
|
|
NM_001267550.2(TTN):c.75268_75274del (p.Phe25090fs)
|
rs2154168865
|
|
|
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter)
|
rs794729382
|
|
|
NM_001267550.2(TTN):c.75333_75334dup (p.Ser25112fs)
|
rs2154168819
|
|
|
NM_001267550.2(TTN):c.75354del (p.Asp25119fs)
|
rs1559394355
|
|
|
NM_001267550.2(TTN):c.75386dup (p.Lys25130fs)
|
rs1707893646
|
|
|
NM_001267550.2(TTN):c.75448C>T (p.Gln25150Ter)
|
|
|
|
NM_001267550.2(TTN):c.75458_75459dup (p.Asn25154fs)
|
|
|
|
NM_001267550.2(TTN):c.75482dup (p.Ser25162fs)
|
|
|
|
NM_001267550.2(TTN):c.75491_75494dup (p.Phe25165fs)
|
|
|
|
NM_001267550.2(TTN):c.75511_75512dup (p.Val25171_Lys25172insTer)
|
|
|
|
NM_001267550.2(TTN):c.75542_75554del (p.Asn25181fs)
|
|
|
|
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter)
|
rs1553603152
|
|
|
NM_001267550.2(TTN):c.75581C>G (p.Ser25194Ter)
|
|
|
|
NM_001267550.2(TTN):c.75589del (p.Thr25196_Val25197insTer)
|
|
|
|
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)
|
rs1553603036
|
|
|
NM_001267550.2(TTN):c.75663del (p.Lys25221fs)
|
rs1131691542
|
|
|
NM_001267550.2(TTN):c.75663dup (p.Cys25222fs)
|
|
|
|
NM_001267550.2(TTN):c.7567G>T (p.Glu2523Ter)
|
|
|
|
NM_001267550.2(TTN):c.75741del (p.Ser25248fs)
|
|
|
|
NM_001267550.2(TTN):c.75785_75786del (p.Leu25262fs)
|
|
|
|
NM_001267550.2(TTN):c.7578dup (p.Asn2527Ter)
|
|
|
|
NM_001267550.2(TTN):c.75820_75823del (p.Glu25274fs)
|
|
|
|
NM_001267550.2(TTN):c.75863_75870delinsTTTA (p.Gly25288fs)
|
|
|
|
NM_001267550.2(TTN):c.75865G>T (p.Glu25289Ter)
|
|
|
|
NM_001267550.2(TTN):c.75895A>T (p.Lys25299Ter)
|
|
|
|
NM_001267550.2(TTN):c.75898_75901dup (p.Pro25301fs)
|
|
|
|
NM_001267550.2(TTN):c.75900del (p.Pro25301fs)
|
|
|
|
NM_001267550.2(TTN):c.7594+2T>A
|
rs2091827779
|
|
|
NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter)
|
rs1553602546
|
|
|
NM_001267550.2(TTN):c.75984_75985insTACCA (p.Ala25329fs)
|
rs1707618662
|
|
|
NM_001267550.2(TTN):c.76095_76096del (p.Arg25365fs)
|
|
|
|
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs)
|
rs774604740
|
|
|
NM_001267550.2(TTN):c.76134_76135del (p.Arg25378fs)
|
rs2154168209
|
|
|
NM_001267550.2(TTN):c.76155_76158dup (p.Leu25387fs)
|
|
|
|
NM_001267550.2(TTN):c.76210del (p.Tyr25404fs)
|
|
|
|
NM_001267550.2(TTN):c.76226del (p.Pro25409fs)
|
rs2154168142
|
|
|
NM_001267550.2(TTN):c.76240dup (p.Val25414fs)
|
rs1707514832
|
|
|
NM_001267550.2(TTN):c.76262C>A (p.Ser25421Ter)
|
rs1707503235
|
|
|
NM_001267550.2(TTN):c.76278G>A (p.Trp25426Ter)
|
rs1064794060
|
|
|
NM_001267550.2(TTN):c.76293T>G (p.Tyr25431Ter)
|
|
|
|
NM_001267550.2(TTN):c.76332dup (p.Cys25445fs)
|
rs1707471794
|
|
|
NM_001267550.2(TTN):c.76342_76345del (p.Ser25448fs)
|
|
|
|
NM_001267550.2(TTN):c.76342_76345dup (p.Val25449fs)
|
rs2154168044
|
|
|
NM_001267550.2(TTN):c.76355G>A (p.Trp25452Ter)
|
|
|
|
NM_001267550.2(TTN):c.76356G>A (p.Trp25452Ter)
|
rs2154168035
|
|
|
NM_001267550.2(TTN):c.76356_76362dup (p.Cys25455fs)
|
|
|
|
NM_001267550.2(TTN):c.76393_76396del (p.Thr25464_Asn25465insTer)
|
rs727504483
|
|
|
NM_001267550.2(TTN):c.76397_76398del (p.Ile25466fs)
|
rs794729342
|
|
|
NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter)
|
rs727503688
|
|
|
NM_001267550.2(TTN):c.76446_76447del (p.Ala25483fs)
|
rs1707425522
|
|
|
NM_001267550.2(TTN):c.76507del (p.Glu25503fs)
|
rs2154167928
|
|
|
NM_001267550.2(TTN):c.76513_76514dup (p.Leu25505fs)
|
|
|
|
NM_001267550.2(TTN):c.76540del (p.Asp25513_Leu25514insTer)
|
rs1559382080
|
|
|
NM_001267550.2(TTN):c.76596del (p.Pro25533fs)
|
|
|
|
NM_001267550.2(TTN):c.76629del (p.Lys25543fs)
|
|
|
|
NM_001267550.2(TTN):c.76709dup (p.Asn25570fs)
|
|
|
|
NM_001267550.2(TTN):c.76721dup (p.Tyr25574Ter)
|
|
|
|
NM_001267550.2(TTN):c.76722T>A (p.Tyr25574Ter)
|
rs55696153
|
|
|
NM_001267550.2(TTN):c.76724_76727dup (p.Ser25576delinsArgTer)
|
rs2154167762
|
|
|
NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter)
|
rs1707280155
|
|
|
NM_001267550.2(TTN):c.76743dup (p.Thr25582fs)
|
rs2154167743
|
|
|
NM_001267550.2(TTN):c.76748del (p.Thr25582_Leu25583insTer)
|
|
|
|
NM_001267550.2(TTN):c.76766del (p.Thr25589fs)
|
|
|
|
NM_001267550.2(TTN):c.76807dup (p.Ser25603fs)
|
rs2154167705
|
|
|
NM_001267550.2(TTN):c.76846_76847del (p.Asp25616fs)
|
rs1559378965
|
|
|
NM_001267550.2(TTN):c.76865G>A (p.Trp25622Ter)
|
rs756552975
|
|
|
NM_001267550.2(TTN):c.76904dup (p.Asn25635fs)
|
rs1553601017
|
|
|
NM_001267550.2(TTN):c.76945del (p.Ala25649fs)
|
rs1707205123
|
|
|
NM_001267550.2(TTN):c.76953del (p.Val25651_Val25652insTer)
|
|
|
|
NM_001267550.2(TTN):c.76970del (p.Lys25657fs)
|
|
|
|
NM_001267550.2(TTN):c.76970dup (p.Asn25658fs)
|
|
|
|
NM_001267550.2(TTN):c.76990C>T (p.Gln25664Ter)
|
|
|
|
NM_001267550.2(TTN):c.77006_77007delinsAA (p.Cys25669Ter)
|
|
|
|
NM_001267550.2(TTN):c.77013T>A (p.Tyr25671Ter)
|
|
|
|
NM_001267550.2(TTN):c.77014dup (p.Tyr25672fs)
|
rs2154167532
|
|
|
NM_001267550.2(TTN):c.77026del (p.Thr25676fs)
|
rs2154167529
|
|
|
NM_001267550.2(TTN):c.77046dup (p.Ile25683fs)
|
|
|
|
NM_001267550.2(TTN):c.77098C>T (p.Gln25700Ter)
|
|
|
|
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs)
|
rs794729343
|
|
|
NM_001267550.2(TTN):c.77118dup (p.Val25707fs)
|
|
|
|
NM_001267550.2(TTN):c.77147_77150del (p.Val25715_Ser25716insTer)
|
rs1466647934
|
|
|
NM_001267550.2(TTN):c.77156G>A (p.Trp25719Ter)
|
|
|
|
NM_001267550.2(TTN):c.77157G>A (p.Trp25719Ter)
|
rs1707088255
|
|
|
NM_001267550.2(TTN):c.77177del (p.Gly25726fs)
|
rs794729344
|
|
|
NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter)
|
rs765997807
|
|
|
NM_001267550.2(TTN):c.77248C>T (p.Arg25750Ter)
|
rs1575714442
|
|
|
NM_001267550.2(TTN):c.77263C>T (p.Gln25755Ter)
|
rs2154167332
|
|
|
NM_001267550.2(TTN):c.77299dup (p.Tyr25767fs)
|
|
|
|
NM_001267550.2(TTN):c.77326G>T (p.Glu25776Ter)
|
rs1553600058
|
|
|
NM_001267550.2(TTN):c.77372_77382del (p.Ala25791fs)
|
|
|
|
NM_001267550.2(TTN):c.77421_77422del (p.Tyr25807_Ser25808delinsTer)
|
|
|
|
NM_001267550.2(TTN):c.77437C>T (p.Gln25813Ter)
|
rs794729287
|
|
|
NM_001267550.2(TTN):c.77452del (p.Glu25818fs)
|
|
|
|
NM_001267550.2(TTN):c.77510del (p.Pro25837fs)
|
|
|
|
NM_001267550.2(TTN):c.77546C>G (p.Ser25849Ter)
|
|
|
|
NM_001267550.2(TTN):c.7756dup (p.Ile2586fs)
|
rs1553999983
|
|
|
NM_001267550.2(TTN):c.77604T>G (p.Tyr25868Ter)
|
rs752137856
|
|
|
NM_001267550.2(TTN):c.77605G>T (p.Gly25869Ter)
|
|
|
|
NM_001267550.2(TTN):c.77610del (p.Thr25871fs)
|
rs1706840484
|
|
|
NM_001267550.2(TTN):c.7762A>T (p.Lys2588Ter)
|
rs1553999955
|
|
|
NM_001267550.2(TTN):c.77751T>A (p.Tyr25917Ter)
|
|
|
|
NM_001267550.2(TTN):c.77764C>T (p.Gln25922Ter)
|
rs794729288
|
|
|
NM_001267550.2(TTN):c.77785C>T (p.Gln25929Ter)
|
|
|
|
NM_001267550.2(TTN):c.77804_77814del (p.Thr25935fs)
|
rs2154166895
|
|
|
NM_001267550.2(TTN):c.77812del (p.Trp25938fs)
|
|
|
|
NM_001267550.2(TTN):c.77843del (p.Thr25948fs)
|
|
|
|
NM_001267550.2(TTN):c.77853del (p.Lys25951_Val25952insTer)
|
|
|
|
NM_001267550.2(TTN):c.77884del (p.Gln25962fs)
|
|
|
|
NM_001267550.2(TTN):c.77902G>T (p.Glu25968Ter)
|
|
|
|
NM_001267550.2(TTN):c.77906dup (p.Asn25969fs)
|
rs1559368995
|
|
|
NM_001267550.2(TTN):c.77907_77908del (p.Asn25969fs)
|
rs2154166826
|
|
|
NM_001267550.2(TTN):c.77933_77951del (p.Glu25978fs)
|
rs1553597801
|
|
|
NM_001267550.2(TTN):c.78075C>A (p.Tyr26025Ter)
|
rs1553597198
|
|
|
NM_001267550.2(TTN):c.78097_78098del (p.Asn26033fs)
|
|
|
|
NM_001267550.2(TTN):c.78108del (p.Leu26036fs)
|
|
|
|
NM_001267550.2(TTN):c.78110G>A (p.Trp26037Ter)
|
|
|
|
NM_001267550.2(TTN):c.7813del (p.Tyr2605fs)
|
rs2154344465
|
|
|
NM_001267550.2(TTN):c.78153del (p.Ala26052fs)
|
rs2154166670
|
|
|
NM_001267550.2(TTN):c.78184G>T (p.Glu26062Ter)
|
rs869312057
|
|
|
NM_001267550.2(TTN):c.78192_78193del (p.Arg26064fs)
|
|
|
|
NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter)
|
rs1553596594
|
|
|
NM_001267550.2(TTN):c.78231_78234del (p.Ser26077fs)
|
|
|
|
NM_001267550.2(TTN):c.78249T>G (p.Tyr26083Ter)
|
rs747203787
|
|
|
NM_001267550.2(TTN):c.78278_78279del (p.Gly26093fs)
|
|
|
|
NM_001267550.2(TTN):c.78301A>T (p.Lys26101Ter)
|
|
|
|
NM_001267550.2(TTN):c.78322C>T (p.Gln26108Ter)
|
|
|
|
NM_001267550.2(TTN):c.78326G>A (p.Trp26109Ter)
|
rs1559364892
|
|
|
NM_001267550.2(TTN):c.78340_78349del (p.Tyr26114fs)
|
|
|
|
NM_001267550.2(TTN):c.78342T>G (p.Tyr26114Ter)
|
rs2154166540
|
|
|
NM_001267550.2(TTN):c.78348dup (p.Gly26117fs)
|
|
|
|
NM_001267550.2(TTN):c.78369_78376dup (p.Glu26126delinsAlaLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter)
|
rs1064793668
|
|
|
NM_001267550.2(TTN):c.78452C>G (p.Ser26151Ter)
|
|
|
|
NM_001267550.2(TTN):c.7846dup (p.Thr2616fs)
|
rs2154344443
|
|
|
NM_001267550.2(TTN):c.7855+1G>T
|
rs746566745
|
|
|
NM_001267550.2(TTN):c.78552del (p.Lys26185fs)
|
|
|
|
NM_001267550.2(TTN):c.7856-1G>T
|
rs2154343384
|
|
|
NM_001267550.2(TTN):c.78572dup (p.Arg26192fs)
|
|
|
|
NM_001267550.2(TTN):c.78634A>T (p.Arg26212Ter)
|
rs1559362000
|
|
|
NM_001267550.2(TTN):c.78656del (p.Gly26219fs)
|
rs1706331057
|
|
|
NM_001267550.2(TTN):c.78685A>T (p.Arg26229Ter)
|
|
|
|
NM_001267550.2(TTN):c.78689del (p.Gly26230fs)
|
rs2154166282
|
|
|
NM_001267550.2(TTN):c.78697G>T (p.Glu26233Ter)
|
rs267599036
|
|
|
NM_001267550.2(TTN):c.78749del (p.Leu26250fs)
|
rs1064793285
|
|
|
NM_001267550.2(TTN):c.78787C>T (p.Gln26263Ter)
|
|
|
|
NM_001267550.2(TTN):c.78817_78823del (p.Gly26273fs)
|
|
|
|
NM_001267550.2(TTN):c.78839del (p.Asn26280fs)
|
|
|
|
NM_001267550.2(TTN):c.78861_78864del (p.Gly26288fs)
|
|
|
|
NM_001267550.2(TTN):c.78909del (p.Lys26303fs)
|
|
|
|
NM_001267550.2(TTN):c.78923G>A (p.Trp26308Ter)
|
|
|
|
NM_001267550.2(TTN):c.78924G>A (p.Trp26308Ter)
|
|
|
|
NM_001267550.2(TTN):c.79006dup (p.Val26336fs)
|
|
|
|
NM_001267550.2(TTN):c.79016C>A (p.Ser26339Ter)
|
|
|
|
NM_001267550.2(TTN):c.79041del (p.Val26348fs)
|
rs1706189208
|
|
|
NM_001267550.2(TTN):c.7906G>T (p.Glu2636Ter)
|
|
|
|
NM_001267550.2(TTN):c.79070_79071del (p.Tyr26357fs)
|
|
|
|
NM_001267550.2(TTN):c.79137_79138dup (p.Met26380fs)
|
rs2154165980
|
|
|
NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter)
|
rs1131691944
|
|
|
NM_001267550.2(TTN):c.79145dup (p.Asn26382fs)
|
rs886041453
|
|
|
NM_001267550.2(TTN):c.79175del (p.Ser26392fs)
|
rs1706104379
|
|
|
NM_001267550.2(TTN):c.79185_79186insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGCTTGGAAGTC (p.Val26395_Thr26396insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysLysSerLeuGluVal)
|
|
|
|
NM_001267550.2(TTN):c.79199_79200del (p.Lys26400fs)
|
rs2154165935
|
|
|
NM_001267550.2(TTN):c.79221G>A (p.Trp26407Ter)
|
|
|
|
NM_001267550.2(TTN):c.79273A>T (p.Lys26425Ter)
|
rs1706063163
|
|
|
NM_001267550.2(TTN):c.79278del (p.Asp26427fs)
|
rs1064796574
|
|
|
NM_001267550.2(TTN):c.79298G>A (p.Trp26433Ter)
|
rs1559355268
|
|
|
NM_001267550.2(TTN):c.79305del (p.Lys26435fs)
|
rs2154165874
|
|
|
NM_001267550.2(TTN):c.79368_79369del (p.Glu26456_Tyr26457insTer)
|
|
|
|
NM_001267550.2(TTN):c.79371T>A (p.Tyr26457Ter)
|
rs1706021639
|
|
|
NM_001267550.2(TTN):c.79427_79428dup (p.Val26477fs)
|
|
|
|
NM_001267550.2(TTN):c.79434T>A (p.Tyr26478Ter)
|
|
|
|
NM_001267550.2(TTN):c.79470del (p.Pro26491fs)
|
|
|
|
NM_001267550.2(TTN):c.79523G>A (p.Trp26508Ter)
|
|
|
|
NM_001267550.2(TTN):c.79539T>A (p.Tyr26513Ter)
|
rs1575685597
|
|
|
NM_001267550.2(TTN):c.7955G>A (p.Trp2652Ter)
|
rs1574584676
|
|
|
NM_001267550.2(TTN):c.79597G>T (p.Glu26533Ter)
|
|
|
|
NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs)
|
rs1312613088
|
|
|
NM_001267550.2(TTN):c.79601G>A (p.Trp26534Ter)
|
|
|
|
NM_001267550.2(TTN):c.79602G>A (p.Trp26534Ter)
|
|
|
|
NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter)
|
rs1064793911
|
|
|
NM_001267550.2(TTN):c.79639C>T (p.Arg26547Ter)
|
|
|
|
NM_001267550.2(TTN):c.79687dup (p.Val26563fs)
|
|
|
|
NM_001267550.2(TTN):c.79692T>A (p.Cys26564Ter)
|
|
|
|
NM_001267550.2(TTN):c.79717G>T (p.Glu26573Ter)
|
rs1705879851
|
|
|
NM_001267550.2(TTN):c.79739del (p.Thr26580fs)
|
|
|
|
NM_001267550.2(TTN):c.79793T>G (p.Leu26598Ter)
|
rs1064794023
|
|
|
NM_001267550.2(TTN):c.79797_79822dup (p.Gly26608delinsGluLysGluLeuLeuTer)
|
rs2154165475
|
|
|
NM_001267550.2(TTN):c.79801G>T (p.Gly26601Ter)
|
rs773632027
|
|
|
NM_001267550.2(TTN):c.79806_79809del (p.Ile26602fs)
|
rs794729347
|
|
|
NM_001267550.2(TTN):c.79811dup (p.Arg26605fs)
|
|
|
|
NM_001267550.2(TTN):c.79844_79848del (p.Pro26615fs)
|
|
|
|
NM_001267550.2(TTN):c.79878G>A (p.Trp26626Ter)
|
rs1705798888
|
|
|
NM_001267550.2(TTN):c.79912C>T (p.Gln26638Ter)
|
rs1705781269
|
|
|
NM_001267550.2(TTN):c.79917del (p.Ile26639fs)
|
rs1705777731
|
|
|
NM_001267550.2(TTN):c.79924G>T (p.Gly26642Ter)
|
|
|
|
NM_001267550.2(TTN):c.7999del (p.Ser2667fs)
|
|
|
|
NM_001267550.2(TTN):c.80000del (p.Asn26667fs)
|
|
|
|
NM_001267550.2(TTN):c.80033_80034del (p.Val26678fs)
|
|
|
|
NM_001267550.2(TTN):c.80044_80047dup (p.Thr26683fs)
|
rs1553586069
|
|
|
NM_001267550.2(TTN):c.80080G>T (p.Glu26694Ter)
|
|
|
|
NM_001267550.2(TTN):c.80082_80086del (p.Val26695fs)
|
rs2154165293
|
|
|
NM_001267550.2(TTN):c.80125_80126dup (p.Asp26710fs)
|
rs1705700724
|
|
|
NM_001267550.2(TTN):c.80135_80159dup (p.Ile26720fs)
|
|
|
|
NM_001267550.2(TTN):c.80169dup (p.Glu26724Ter)
|
rs1705682545
|
|
|
NM_001267550.2(TTN):c.80174_80202dup (p.Ser26735delinsGlnProGluLysArgMetLeuMetTer)
|
rs2154165199
|
|
|
NM_001267550.2(TTN):c.8017A>T (p.Lys2673Ter)
|
|
|
|
NM_001267550.2(TTN):c.80203del (p.Ser26735fs)
|
|
|
|
NM_001267550.2(TTN):c.80218del (p.Thr26740fs)
|
|
|
|
NM_001267550.2(TTN):c.80259T>G (p.Tyr26753Ter)
|
rs895018646
|
|
|
NM_001267550.2(TTN):c.80268_80269del (p.Arg26756fs)
|
rs2154165154
|
|
|
NM_001267550.2(TTN):c.80361del (p.Thr26788fs)
|
|
|
|
NM_001267550.2(TTN):c.80365_80432del (p.Leu26789fs)
|
rs1575674631
|
|
|
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter)
|
rs2154165062
|
|
|
NM_001267550.2(TTN):c.80386del (p.Ser26796fs)
|
rs1651641615
|
|
|
NM_001267550.2(TTN):c.80445C>A (p.Tyr26815Ter)
|
rs759414143
|
|
|
NM_001267550.2(TTN):c.80458C>T (p.Gln26820Ter)
|
rs2154164995
|
|
|
NM_001267550.2(TTN):c.80466dup (p.Gly26823fs)
|
|
|
|
NM_001267550.2(TTN):c.80478dup (p.Trp26827fs)
|
|
|
|
NM_001267550.2(TTN):c.80504del (p.Val26835fs)
|
|
|
|
NM_001267550.2(TTN):c.80539C>T (p.Gln26847Ter)
|
|
|
|
NM_001267550.2(TTN):c.80541dup (p.Glu26848fs)
|
|
|
|
NM_001267550.2(TTN):c.80547T>A (p.Tyr26849Ter)
|
rs1575673206
|
|
|
NM_001267550.2(TTN):c.80547T>G (p.Tyr26849Ter)
|
rs1575673206
|
|
|
NM_001267550.2(TTN):c.80568T>A (p.Tyr26856Ter)
|
rs769878576
|
|
|
NM_001267550.2(TTN):c.80578G>T (p.Gly26860Ter)
|
|
|
|
NM_001267550.2(TTN):c.80635C>T (p.Gln26879Ter)
|
rs79926414
|
|
|
NM_001267550.2(TTN):c.80658del (p.Phe26886fs)
|
|
|
|
NM_001267550.2(TTN):c.80666del (p.Tyr26889fs)
|
rs2154164836
|
|
|
NM_001267550.2(TTN):c.80667del (p.Thr26888_Tyr26889insTer)
|
|
|
|
NM_001267550.2(TTN):c.8067T>A (p.Tyr2689Ter)
|
|
|
|
NM_001267550.2(TTN):c.80736_80742del (p.Trp26913fs)
|
rs1575670635
|
|
|
NM_001267550.2(TTN):c.80740dup (p.Val26914fs)
|
rs2154164758
|
|
|
NM_001267550.2(TTN):c.80762_80765del (p.Lys26921fs)
|
rs2154164725
|
|
|
NM_001267550.2(TTN):c.80772_80773del (p.Arg26925fs)
|
|
|
|
NM_001267550.2(TTN):c.80780del (p.Asn26927fs)
|
|
|
|
NM_001267550.2(TTN):c.80788G>T (p.Glu26930Ter)
|
|
|
|
NM_001267550.2(TTN):c.80792dup (p.Ala26932fs)
|
rs2154164664
|
|
|
NM_001267550.2(TTN):c.80801C>G (p.Ser26934Ter)
|
|
|
|
NM_001267550.2(TTN):c.80809_80812delinsACCTCA (p.Leu26937fs)
|
|
|
|
NM_001267550.2(TTN):c.80849dup (p.Tyr26950Ter)
|
|
|
|
NM_001267550.2(TTN):c.80850C>A (p.Tyr26950Ter)
|
rs794729291
|
|
|
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter)
|
rs794729291
|
|
|
NM_001267550.2(TTN):c.80853dup (p.Val26952fs)
|
rs2154164489
|
|
|
NM_001267550.2(TTN):c.80895_80896del (p.Ser26966fs)
|
|
|
|
NM_001267550.2(TTN):c.80915del (p.Lys26972fs)
|
|
|
|
NM_001267550.2(TTN):c.80922del (p.Pro26975fs)
|
|
|
|
NM_001267550.2(TTN):c.80927_80928del (p.Pro26976fs)
|
rs2154164271
|
|
|
NM_001267550.2(TTN):c.80927del (p.Pro26976fs)
|
rs2154164277
|
|
|
NM_001267550.2(TTN):c.8092del (p.Thr2698fs)
|
rs2154343276
|
|
|
NM_001267550.2(TTN):c.80943dup (p.Phe26982fs)
|
|
|
|
NM_001267550.2(TTN):c.80950_80951del (p.Glu26984fs)
|
|
|
|
NM_001267550.2(TTN):c.80972del (p.Val26991fs)
|
|
|
|
NM_001267550.2(TTN):c.80975dup (p.Ser26993fs)
|
|
|
|
NM_001267550.2(TTN):c.80981G>A (p.Trp26994Ter)
|
|
|
|
NM_001267550.2(TTN):c.80997T>A (p.Tyr26999Ter)
|
|
|
|
NM_001267550.2(TTN):c.80997_81012del (p.Ala26998_Tyr26999insTer)
|
rs727503559
|
|
|
NM_001267550.2(TTN):c.8103del (p.Lys2701fs)
|
|
|
|
NM_001267550.2(TTN):c.81059G>A (p.Trp27020Ter)
|
|
|
|
NM_001267550.2(TTN):c.81096del (p.Lys27033_Ile27034insTer)
|
rs2154163856
|
|
|
NM_001267550.2(TTN):c.81100_81103dup (p.Thr27035fs)
|
rs1060500593
|
|
|
NM_001267550.2(TTN):c.81126del (p.Glu27042fs)
|
rs1553579429
|
|
|
NM_001267550.2(TTN):c.81144del (p.Phe27048fs)
|
|
|
|
NM_001267550.2(TTN):c.81156del (p.Arg27052fs)
|
|
|
|
NM_001267550.2(TTN):c.8116+1G>A
|
|
|
|
NM_001267550.2(TTN):c.8117-1G>T
|
|
|
|
NM_001267550.2(TTN):c.81199C>T (p.Gln27067Ter)
|
|
|
|
NM_001267550.2(TTN):c.81202del (p.Tyr27068fs)
|
rs794729394
|
|
|
NM_001267550.2(TTN):c.81227_81233del (p.Pro27076fs)
|
|
|
|
NM_001267550.2(TTN):c.81243_81261del (p.Thr27082fs)
|
rs749610641
|
|
|
NM_001267550.2(TTN):c.81254C>G (p.Ser27085Ter)
|
rs1705109191
|
|
|
NM_001267550.2(TTN):c.81259del (p.Asp27087fs)
|
rs2154163570
|
|
|
NM_001267550.2(TTN):c.81262_81269del (p.Gln27088fs)
|
rs869312059
|
|
|
NM_001267550.2(TTN):c.81281dup (p.His27094fs)
|
|
|
|
NM_001267550.2(TTN):c.81323del (p.His27108fs)
|
rs1575663530
|
|
|
NM_001267550.2(TTN):c.81328G>T (p.Glu27110Ter)
|
|
|
|
NM_001267550.2(TTN):c.81337G>T (p.Glu27113Ter)
|
rs794729292
|
|
|
NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs)
|
rs886038928
|
|
|
NM_001267550.2(TTN):c.81341del (p.Lys27114fs)
|
|
|
|
NM_001267550.2(TTN):c.81357G>A (p.Trp27119Ter)
|
|
|
|
NM_001267550.2(TTN):c.81372_81373del (p.Lys27124fs)
|
rs2154163297
|
|
|
NM_001267550.2(TTN):c.81379del (p.Ile27127fs)
|
rs2154163264
|
|
|
NM_001267550.2(TTN):c.8137_8138del (p.Leu2713fs)
|
|
|
|
NM_001267550.2(TTN):c.81411del (p.Asp27138fs)
|
rs2154163173
|
|
|
NM_001267550.2(TTN):c.81455_81456del (p.Ile27152fs)
|
|
|
|
NM_001267550.2(TTN):c.81476del (p.Ser27159fs)
|
|
|
|
NM_001267550.2(TTN):c.81487G>T (p.Glu27163Ter)
|
|
|
|
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter)
|
rs397517721
|
|
|
NM_001267550.2(TTN):c.81551_81554del (p.Arg27184fs)
|
|
|
|
NM_001267550.2(TTN):c.81557_81564del (p.Asn27186fs)
|
rs2154162877
|
|
|
NM_001267550.2(TTN):c.81561_81562insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAACAATGTC (p.Val27187_Thr27188insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysArgAsnAsnVal)
|
rs2154162886
|
|
|
NM_001267550.2(TTN):c.81573del (p.Lys27190_Trp27191insTer)
|
rs2154162859
|
|
|
NM_001267550.2(TTN):c.81618_86068del (p.Val27207fs)
|
|
|
|
NM_001267550.2(TTN):c.81629_81632del (p.Lys27210fs)
|
|
|
|
NM_001267550.2(TTN):c.81650G>A (p.Trp27217Ter)
|
rs1559330805
|
|
|
NM_001267550.2(TTN):c.81718del (p.Arg27240fs)
|
rs1575658959
|
|
|
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter)
|
rs769821404
|
|
|
NM_001267550.2(TTN):c.81758_81762delinsCCATCTGCATTTCTTGCAAACTCTAA (p.Asn27253_Phe27254delinsThrIleCysIleSerCysLysLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.81758del (p.Asn27253fs)
|
rs2154162603
|
|
|
NM_001267550.2(TTN):c.81802del (p.Asp27268fs)
|
rs2154162514
|
|
|
NM_001267550.2(TTN):c.81805G>T (p.Glu27269Ter)
|
|
|
|
NM_001267550.2(TTN):c.81847_81850del (p.Asp27283fs)
|
|
|
|
NM_001267550.2(TTN):c.81886del (p.Glu27296fs)
|
rs727503557
|
|
|
NM_001267550.2(TTN):c.81912_81919dup (p.Val27307fs)
|
|
|
|
NM_001267550.2(TTN):c.81929C>G (p.Ser27310Ter)
|
|
|
|
NM_001267550.2(TTN):c.81943G>T (p.Glu27315Ter)
|
rs373533040
|
|
|
NM_001267550.2(TTN):c.82001_82002del (p.Leu27334fs)
|
rs1704746759
|
|
|
NM_001267550.2(TTN):c.82044del (p.Ile27348_Leu27349insTer)
|
|
|
|
NM_001267550.2(TTN):c.82113_82132dup (p.Lys27378delinsSerLeuLeuLysGlyLeuTer)
|
rs2154161823
|
|
|
NM_001267550.2(TTN):c.82172G>A (p.Trp27391Ter)
|
rs2154161781
|
|
|
NM_001267550.2(TTN):c.82186dup (p.Gln27396fs)
|
|
|
|
NM_001267550.2(TTN):c.82193del (p.Gly27398fs)
|
rs1064795346
|
|
|
NM_001267550.2(TTN):c.82200del (p.Asn27401fs)
|
|
|
|
NM_001267550.2(TTN):c.82208C>G (p.Ser27403Ter)
|
rs1704654934
|
|
|
NM_001267550.2(TTN):c.8220G>A (p.Trp2740Ter)
|
rs1553995639
|
|
|
NM_001267550.2(TTN):c.82226del (p.Lys27409fs)
|
rs1575653015
|
|
|
NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter)
|
rs2154161716
|
|
|
NM_001267550.2(TTN):c.82273C>T (p.Gln27425Ter)
|
rs371332011
|
|
|
NM_001267550.2(TTN):c.82286dup (p.Tyr27429Ter)
|
|
|
|
NM_001267550.2(TTN):c.82299del (p.Lys27433fs)
|
rs2154161694
|
|
|
NM_001267550.2(TTN):c.82350T>G (p.Tyr27450Ter)
|
rs1060503941
|
|
|
NM_001267550.2(TTN):c.82409del (p.Pro27470fs)
|
|
|
|
NM_001267550.2(TTN):c.82415_82419dup (p.Ser27474fs)
|
|
|
|
NM_001267550.2(TTN):c.82429G>T (p.Glu27477Ter)
|
|
|
|
NM_001267550.2(TTN):c.82470G>A (p.Trp27490Ter)
|
|
|
|
NM_001267550.2(TTN):c.82512C>A (p.Tyr27504Ter)
|
rs1181684993
|
|
|
NM_001267550.2(TTN):c.82529del (p.Asp27510fs)
|
|
|
|
NM_001267550.2(TTN):c.82535_82538del (p.Glu27512fs)
|
|
|
|
NM_001267550.2(TTN):c.82536del (p.Gly27513fs)
|
rs2154161517
|
|
|
NM_001267550.2(TTN):c.82547G>A (p.Trp27516Ter)
|
rs2154161494
|
|
|
NM_001267550.2(TTN):c.82576del (p.Asp27526fs)
|
|
|
|
NM_001267550.2(TTN):c.82592_82593del (p.Val27531fs)
|
rs1704477893
|
|
|
NM_001267550.2(TTN):c.82594dup (p.Thr27532fs)
|
rs1064795407
|
|
|
NM_001267550.2(TTN):c.82598del (p.Gly27533fs)
|
|
|
|
NM_001267550.2(TTN):c.82603_82615del (p.Thr27535fs)
|
|
|
|
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter)
|
rs779874042
|
|
|
NM_001267550.2(TTN):c.82640_82671del (p.Glu27547fs)
|
|
|
|
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)
|
rs869178171
|
|
|
NM_001267550.2(TTN):c.82673dup (p.Ser27559fs)
|
rs1704426915
|
|
|
NM_001267550.2(TTN):c.82684_82685insSVAelement
|
|
|
|
NM_001267550.2(TTN):c.826C>T (p.Gln276Ter)
|
rs2154358498
|
|
|
NM_001267550.2(TTN):c.82727del (p.Asn27576fs)
|
|
|
|
NM_001267550.2(TTN):c.82732A>T (p.Lys27578Ter)
|
rs368850871
|
|
|
NM_001267550.2(TTN):c.82742del (p.Asp27581fs)
|
|
|
|
NM_001267550.2(TTN):c.82770dup (p.Trp27591fs)
|
|
|
|
NM_001267550.2(TTN):c.82786del (p.Tyr27596fs)
|
rs1704380780
|
|
|
NM_001267550.2(TTN):c.8278del (p.Thr2760fs)
|
|
|
|
NM_001267550.2(TTN):c.82809dup (p.Gly27604fs)
|
|
|
|
NM_001267550.2(TTN):c.82822G>T (p.Glu27608Ter)
|
rs1704361187
|
|
|
NM_001267550.2(TTN):c.82843del (p.Asp27615fs)
|
|
|
|
NM_001267550.2(TTN):c.82847_82850del (p.Glu27616fs)
|
rs2154161251
|
|
|
NM_001267550.2(TTN):c.8286C>G (p.Tyr2762Ter)
|
rs1574570125
|
|
|
NM_001267550.2(TTN):c.82879C>T (p.Gln27627Ter)
|
rs747365357
|
|
|
NM_001267550.2(TTN):c.82888C>T (p.Gln27630Ter)
|
|
|
|
NM_001267550.2(TTN):c.82895_82896del (p.Thr27632fs)
|
rs796267411
|
|
|
NM_001267550.2(TTN):c.82901_83012del (p.Thr27634fs)
|
|
|
|
NM_001267550.2(TTN):c.82909A>T (p.Lys27637Ter)
|
|
|
|
NM_001267550.2(TTN):c.82912del (p.Glu27638fs)
|
|
|
|
NM_001267550.2(TTN):c.82964del (p.Gly27655fs)
|
|
|
|
NM_001267550.2(TTN):c.82999C>T (p.Gln27667Ter)
|
rs2154161170
|
|
|
NM_001267550.2(TTN):c.83048del (p.Lys27683fs)
|
rs1060500572
|
|
|
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs)
|
rs869312037
|
|
|
NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter)
|
rs1559314812
|
|
|
NM_001267550.2(TTN):c.83125_83131del (p.Trp27709fs)
|
|
|
|
NM_001267550.2(TTN):c.83126G>A (p.Trp27709Ter)
|
rs2154161090
|
|
|
NM_001267550.2(TTN):c.83171_83172del (p.Val27724fs)
|
|
|
|
NM_001267550.2(TTN):c.83232T>A (p.Tyr27744Ter)
|
|
|
|
NM_001267550.2(TTN):c.83243T>G (p.Leu27748Ter)
|
|
|
|
NM_001267550.2(TTN):c.83297C>A (p.Ser27766Ter)
|
|
|
|
NM_001267550.2(TTN):c.83324dup (p.Arg27776fs)
|
rs2154160971
|
|
|
NM_001267550.2(TTN):c.83335A>T (p.Lys27779Ter)
|
rs2154160959
|
|
|
NM_001267550.2(TTN):c.83340del (p.Asp27781fs)
|
|
|
|
NM_001267550.2(TTN):c.83345C>G (p.Ser27782Ter)
|
rs769862471
|
|
|
NM_001267550.2(TTN):c.83383G>T (p.Gly27795Ter)
|
|
|
|
NM_001267550.2(TTN):c.83384del (p.Gly27795fs)
|
rs1704151765
|
|
|
NM_001267550.2(TTN):c.833del (p.Ala278fs)
|
|
|
|
NM_001267550.2(TTN):c.83504_83505del (p.Ser27835fs)
|
|
|
|
NM_001267550.2(TTN):c.83603del (p.Gly27868fs)
|
rs727505014
|
|
|
NM_001267550.2(TTN):c.83609dup (p.Thr27871fs)
|
|
|
|
NM_001267550.2(TTN):c.83629del (p.Arg27877fs)
|
|
|
|
NM_001267550.2(TTN):c.83635del (p.Thr27879fs)
|
|
|
|
NM_001267550.2(TTN):c.83653G>T (p.Glu27885Ter)
|
rs794729295
|
|
|
NM_001267550.2(TTN):c.83658del (p.Lys27886fs)
|
|
|
|
NM_001267550.2(TTN):c.8365A>T (p.Arg2789Ter)
|
rs1553995241
|
|
|
NM_001267550.2(TTN):c.83704dup (p.Met27902fs)
|
|
|
|
NM_001267550.2(TTN):c.83739C>A (p.Cys27913Ter)
|
|
|
|
NM_001267550.2(TTN):c.83747_83751del (p.Val27916fs)
|
|
|
|
NM_001267550.2(TTN):c.83748_83751dup (p.Thr27918Ter)
|
|
|
|
NM_001267550.2(TTN):c.83788_83789del (p.Glu27930fs)
|
rs1553567622
|
|
|
NM_001267550.2(TTN):c.8380+1G>A
|
rs794729306
|
|
|
NM_001267550.2(TTN):c.83830_83836delinsTCACT (p.Arg27944fs)
|
rs1575633082
|
|
|
NM_001267550.2(TTN):c.83866dup (p.Ala27956fs)
|
|
|
|
NM_001267550.2(TTN):c.83992_84016del (p.Lys27998fs)
|
|
|
|
NM_001267550.2(TTN):c.84024_84025del (p.Arg28008fs)
|
rs1575630957
|
|
|
NM_001267550.2(TTN):c.84050dup (p.Thr28018fs)
|
|
|
|
NM_001267550.2(TTN):c.84062_84065del (p.Ser28021fs)
|
rs1703876192
|
|
|
NM_001267550.2(TTN):c.84063_84066del (p.Ile28022fs)
|
rs796692860
|
|
|
NM_001267550.2(TTN):c.84070_84073del (p.Glu28024fs)
|
rs2154160472
|
|
|
NM_001267550.2(TTN):c.84099T>A (p.Tyr28033Ter)
|
rs762450131
|
|
|
NM_001267550.2(TTN):c.84109_84110del (p.Val28037fs)
|
rs2154160413
|
|
|
NM_001267550.2(TTN):c.84163A>T (p.Arg28055Ter)
|
|
|
|
NM_001267550.2(TTN):c.84202_84205del (p.Ser28068fs)
|
|
|
|
NM_001267550.2(TTN):c.84228del (p.Ser28075_Trp28076insTer)
|
rs1703813514
|
|
|
NM_001267550.2(TTN):c.84281_84285del (p.Lys28094fs)
|
|
|
|
NM_001267550.2(TTN):c.84296_84297del (p.Ser28099fs)
|
rs1553565463
|
|
|
NM_001267550.2(TTN):c.8430del (p.Thr2811fs)
|
|
|
|
NM_001267550.2(TTN):c.84311_84312del (p.Ile28104fs)
|
rs1553565316
|
|
|
NM_001267550.2(TTN):c.8433del (p.Val2812fs)
|
rs2091273665
|
|
|
NM_001267550.2(TTN):c.84353del (p.Arg28118fs)
|
|
|
|
NM_001267550.2(TTN):c.84365del (p.Gly28122fs)
|
rs750146750
|
|
|
NM_001267550.2(TTN):c.84370_84373del (p.Glu28124fs)
|
rs1559301344
|
|
|
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter)
|
rs869312119
|
|
|
NM_001267550.2(TTN):c.84405T>G (p.Tyr28135Ter)
|
rs756176112
|
|
|
NM_001267550.2(TTN):c.84420C>G (p.Tyr28140Ter)
|
|
|
|
NM_001267550.2(TTN):c.84438del (p.Val28147fs)
|
|
|
|
NM_001267550.2(TTN):c.84438dup (p.Val28147fs)
|
|
|
|
NM_001267550.2(TTN):c.84464del (p.Pro28155fs)
|
|
|
|
NM_001267550.2(TTN):c.84480dup (p.Pro28161fs)
|
|
|
|
NM_001267550.2(TTN):c.84482del (p.Pro28161fs)
|
rs1060500556
|
|
|
NM_001267550.2(TTN):c.84504dup (p.Ser28169fs)
|
|
|
|
NM_001267550.2(TTN):c.84524G>A (p.Trp28175Ter)
|
rs2154159874
|
|
|
NM_001267550.2(TTN):c.84537_84540dup (p.Asp28181Ter)
|
|
|
|
NM_001267550.2(TTN):c.84553C>T (p.Arg28185Ter)
|
rs397517729
|
|
|
NM_001267550.2(TTN):c.84567T>A (p.Tyr28189Ter)
|
|
|
|
NM_001267550.2(TTN):c.84586_84589del (p.Arg28196fs)
|
rs1703664543
|
|
|
NM_001267550.2(TTN):c.84602G>A (p.Trp28201Ter)
|
rs2154159779
|
|
|
NM_001267550.2(TTN):c.84607A>T (p.Lys28203Ter)
|
|
|
|
NM_001267550.2(TTN):c.84619del (p.Ile28207fs)
|
rs2154159753
|
|
|
NM_001267550.2(TTN):c.84631del (p.Asp28211fs)
|
rs1703651493
|
|
|
NM_001267550.2(TTN):c.84641_84645del (p.Met28214fs)
|
|
|
|
NM_001267550.2(TTN):c.84642del (p.Met28214fs)
|
|
|
|
NM_001267550.2(TTN):c.84643A>T (p.Lys28215Ter)
|
rs2154159715
|
|
|
NM_001267550.2(TTN):c.84819del (p.Trp28273fs)
|
rs2154159514
|
|
|
NM_001267550.2(TTN):c.84820dup (p.Ser28274fs)
|
rs2154159502
|
|
|
NM_001267550.2(TTN):c.84890del (p.Gly28297fs)
|
|
|
|
NM_001267550.2(TTN):c.84897G>A (p.Trp28299Ter)
|
rs794729296
|
|
|
NM_001267550.2(TTN):c.848del (p.Pro283fs)
|
rs2154358488
|
|
|
NM_001267550.2(TTN):c.84922del (p.Gln28308fs)
|
rs2154159416
|
|
|
NM_001267550.2(TTN):c.84958_84959delinsT (p.Asp28320fs)
|
rs1703522059
|
|
|
NM_001267550.2(TTN):c.84969T>A (p.Tyr28323Ter)
|
|
|
|
NM_001267550.2(TTN):c.8497G>T (p.Glu2833Ter)
|
rs1553994874
|
|
|
NM_001267550.2(TTN):c.84984dup (p.Ala28329fs)
|
rs2154159353
|
|
|
NM_001267550.2(TTN):c.85005dup (p.Val28336fs)
|
|
|
|
NM_001267550.2(TTN):c.8500del (p.Ile2834fs)
|
|
|
|
NM_001267550.2(TTN):c.85013_85014del (p.Glu28338fs)
|
rs2154159323
|
|
|
NM_001267550.2(TTN):c.85150C>T (p.Arg28384Ter)
|
rs1703437679
|
|
|
NM_001267550.2(TTN):c.85174dup (p.Ala28392fs)
|
|
|
|
NM_001267550.2(TTN):c.85180dup (p.Asp28394fs)
|
|
|
|
NM_001267550.2(TTN):c.85230_85231del (p.Asp28410fs)
|
|
|
|
NM_001267550.2(TTN):c.85254del (p.Asp28419fs)
|
|
|
|
NM_001267550.2(TTN):c.85262dup (p.Arg28422fs)
|
|
|
|
NM_001267550.2(TTN):c.85267C>T (p.Arg28423Ter)
|
rs769664554
|
|
|
NM_001267550.2(TTN):c.85359del (p.Pro28454fs)
|
|
|
|
NM_001267550.2(TTN):c.85366_85367dup (p.Pro28457fs)
|
|
|
|
NM_001267550.2(TTN):c.85408_85409del (p.Leu28470fs)
|
rs2154159007
|
|
|
NM_001267550.2(TTN):c.85431del (p.Asp28478fs)
|
rs1703325248
|
|
|
NM_001267550.2(TTN):c.85458C>G (p.Tyr28486Ter)
|
|
|
|
NM_001267550.2(TTN):c.85458del (p.Tyr28485_Tyr28486insTer)
|
rs2154158972
|
|
|
NM_001267550.2(TTN):c.85486del (p.Ala28497fs)
|
rs2154158948
|
|
|
NM_001267550.2(TTN):c.85493G>A (p.Trp28498Ter)
|
|
|
|
NM_001267550.2(TTN):c.85494G>A (p.Trp28498Ter)
|
|
|
|
NM_001267550.2(TTN):c.85514T>G (p.Leu28505Ter)
|
rs1057520803
|
|
|
NM_001267550.2(TTN):c.85519dup (p.Met28507fs)
|
rs1575614351
|
|
|
NM_001267550.2(TTN):c.85525dup (p.Ser28509fs)
|
rs2154158897
|
|
|
NM_001267550.2(TTN):c.85544T>G (p.Leu28515Ter)
|
rs886041441
|
|
|
NM_001267550.2(TTN):c.85546del (p.Leu28516fs)
|
rs2154158876
|
|
|
NM_001267550.2(TTN):c.85589_85592del (p.Lys28530fs)
|
rs1553562793
|
|
|
NM_001267550.2(TTN):c.8560C>T (p.Gln2854Ter)
|
|
|
|
NM_001267550.2(TTN):c.85612_85619del (p.Glu28538fs)
|
rs794729353
|
|
|
NM_001267550.2(TTN):c.85640_85652del (p.Pro28547fs)
|
rs762286447
|
|
|
NM_001267550.2(TTN):c.85707_85708del (p.Cys28570fs)
|
rs1219440385
|
|
|
NM_001267550.2(TTN):c.85713G>A (p.Trp28571Ter)
|
rs1575612435
|
|
|
NM_001267550.2(TTN):c.85755T>A (p.Tyr28585Ter)
|
rs1553562490
|
|
|
NM_001267550.2(TTN):c.8576C>G (p.Ser2859Ter)
|
rs1574564600
|
|
|
NM_001267550.2(TTN):c.85790G>A (p.Trp28597Ter)
|
|
|
|
NM_001267550.2(TTN):c.85809dup (p.Pro28604fs)
|
|
|
|
NM_001267550.2(TTN):c.85811del (p.Pro28604fs)
|
|
|
|
NM_001267550.2(TTN):c.85860del (p.Glu28620fs)
|
rs1575611108
|
|
|
NM_001267550.2(TTN):c.85899_85900del (p.Leu28635fs)
|
|
|
|
NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter)
|
rs72648224
|
|
|
NM_001267550.2(TTN):c.85978dup (p.Ile28660fs)
|
|
|
|
NM_001267550.2(TTN):c.86003dup (p.Thr28669fs)
|
rs1559284676
|
|
|
NM_001267550.2(TTN):c.86015G>A (p.Trp28672Ter)
|
rs1559284497
|
|
|
NM_001267550.2(TTN):c.86016G>A (p.Trp28672Ter)
|
rs1553562022
|
|
|
NM_001267550.2(TTN):c.86036dup (p.Gly28680fs)
|
rs2154158408
|
|
|
NM_001267550.2(TTN):c.86076del (p.Lys28692fs)
|
rs1285329277
|
|
|
NM_001267550.2(TTN):c.86113_86126del (p.Leu28705fs)
|
|
|
|
NM_001267550.2(TTN):c.86127dup (p.Tyr28710fs)
|
|
|
|
NM_001267550.2(TTN):c.86140G>T (p.Gly28714Ter)
|
|
|
|
NM_001267550.2(TTN):c.86162_86163del (p.Tyr28721fs)
|
rs2154158304
|
|
|
NM_001267550.2(TTN):c.86163T>A (p.Tyr28721Ter)
|
|
|
|
NM_001267550.2(TTN):c.86190_86191insTAAAAAAAAAG (p.Val28731Ter)
|
|
|
|
NM_001267550.2(TTN):c.86219_86220del (p.Ser28739_Ser28740insTer)
|
|
|
|
NM_001267550.2(TTN):c.86228_86229insAA (p.Ile28744fs)
|
|
|
|
NM_001267550.2(TTN):c.86251G>T (p.Glu28751Ter)
|
rs772058084
|
|
|
NM_001267550.2(TTN):c.86267_86268del (p.Ile28756fs)
|
|
|
|
NM_001267550.2(TTN):c.86290_86299del (p.Leu28764fs)
|
rs2154158204
|
|
|
NM_001267550.2(TTN):c.86290_86302del (p.Ile28765fs)
|
rs2154158200
|
|
|
NM_001267550.2(TTN):c.86290_86303delinsA (p.Leu28764fs)
|
rs1064792916
|
|
|
NM_001267550.2(TTN):c.86333del (p.Phe28778fs)
|
|
|
|
NM_001267550.2(TTN):c.8633_8636del (p.Phe2878fs)
|
rs727503686
|
|
|
NM_001267550.2(TTN):c.86354_86821+291del
|
rs1559272130
|
|
|
NM_001267550.2(TTN):c.86392A>T (p.Arg28798Ter)
|
|
|
|
NM_001267550.2(TTN):c.86399_86403del (p.Ala28799_Tyr28800insTer)
|
|
|
|
NM_001267550.2(TTN):c.86407_86408dup (p.Thr28804fs)
|
rs2154158109
|
|
|
NM_001267550.2(TTN):c.8642-2A>G
|
|
|
|
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter)
|
rs1553560951
|
|
|
NM_001267550.2(TTN):c.86437G>T (p.Glu28813Ter)
|
rs868494032
|
|
|
NM_001267550.2(TTN):c.86441del (p.Asn28814fs)
|
|
|
|
NM_001267550.2(TTN):c.86474T>G (p.Leu28825Ter)
|
rs794729297
|
|
|
NM_001267550.2(TTN):c.86482C>T (p.Gln28828Ter)
|
|
|
|
NM_001267550.2(TTN):c.86560del (p.Val28854fs)
|
|
|
|
NM_001267550.2(TTN):c.86570dup (p.Thr28858fs)
|
rs2154157942
|
|
|
NM_001267550.2(TTN):c.86585_86589dup (p.Leu28864fs)
|
|
|
|
NM_001267550.2(TTN):c.86597G>A (p.Trp28866Ter)
|
|
|
|
NM_001267550.2(TTN):c.86620G>T (p.Gly28874Ter)
|
rs765852996
|
|
|
NM_001267550.2(TTN):c.86640C>A (p.Tyr28880Ter)
|
rs794729298
|
|
|
NM_001267550.2(TTN):c.86640C>G (p.Tyr28880Ter)
|
rs794729298
|
|
|
NM_001267550.2(TTN):c.86670del (p.Ala28891fs)
|
rs1702795017
|
|
|
NM_001267550.2(TTN):c.86675G>A (p.Trp28892Ter)
|
rs745896785
|
|
|
NM_001267550.2(TTN):c.86676G>A (p.Trp28892Ter)
|
|
|
|
NM_001267550.2(TTN):c.86699del (p.Asn28900fs)
|
rs2154157834
|
|
|
NM_001267550.2(TTN):c.86727dup (p.Gln28910fs)
|
|
|
|
NM_001267550.2(TTN):c.86742_86745del (p.Tyr28915fs)
|
rs1415420768
|
|
|
NM_001267550.2(TTN):c.86754_86755del (p.Arg28918fs)
|
|
|
|
NM_001267550.2(TTN):c.86805_86808del (p.Glu28935_Gly28936insTer)
|
|
|
|
NM_001267550.2(TTN):c.86821+1G>C
|
|
|
|
NM_001267550.2(TTN):c.86822-1del
|
|
|
|
NM_001267550.2(TTN):c.86822-2A>G
|
rs773710035
|
|
|
NM_001267550.2(TTN):c.86861del (p.Ile28954fs)
|
|
|
|
NM_001267550.2(TTN):c.86878dup (p.Ser28960fs)
|
|
|
|
NM_001267550.2(TTN):c.86889G>A (p.Trp28963Ter)
|
rs1702376984
|
|
|
NM_001267550.2(TTN):c.86905del (p.Asp28969fs)
|
|
|
|
NM_001267550.2(TTN):c.86911G>T (p.Gly28971Ter)
|
|
|
|
NM_001267550.2(TTN):c.86966G>A (p.Trp28989Ter)
|
rs1702355636
|
|
|
NM_001267550.2(TTN):c.86975del (p.Cys28992fs)
|
|
|
|
NM_001267550.2(TTN):c.86979dup (p.Val28994fs)
|
|
|
|
NM_001267550.2(TTN):c.87004_87005del (p.Val29002fs)
|
|
|
|
NM_001267550.2(TTN):c.87019_87022del (p.Glu29007fs)
|
rs1559267059
|
|
|
NM_001267550.2(TTN):c.87021_87022del (p.Asn29008fs)
|
|
|
|
NM_001267550.2(TTN):c.87028del (p.Glu29010fs)
|
rs1702337235
|
|
|
NM_001267550.2(TTN):c.87046_87049del (p.Phe29016fs)
|
rs1575592653
|
|
|
NM_001267550.2(TTN):c.87077del (p.Pro29026fs)
|
|
|
|
NM_001267550.2(TTN):c.87077dup (p.Arg29027fs)
|
|
|
|
NM_001267550.2(TTN):c.87095del (p.Pro29032fs)
|
|
|
|
NM_001267550.2(TTN):c.87106A>T (p.Lys29036Ter)
|
|
|
|
NM_001267550.2(TTN):c.87116_87117dup (p.Glu29040Ter)
|
rs2154156468
|
|
|
NM_001267550.2(TTN):c.87118+1G>A
|
|
|
|
NM_001267550.2(TTN):c.87137_87138del (p.Met29046fs)
|
rs1702243883
|
|
|
NM_001267550.2(TTN):c.87165T>A (p.Tyr29055Ter)
|
rs756211633
|
|
|
NM_001267550.2(TTN):c.87179C>G (p.Ser29060Ter)
|
|
|
|
NM_001267550.2(TTN):c.87225dup (p.Val29076fs)
|
|
|
|
NM_001267550.2(TTN):c.87233T>G (p.Leu29078Ter)
|
rs2154156172
|
|
|
NM_001267550.2(TTN):c.87238del (p.Arg29080fs)
|
|
|
|
NM_001267550.2(TTN):c.87253del (p.Lys29086fs)
|
rs2154156150
|
|
|
NM_001267550.2(TTN):c.87253delinsTTA (p.Lys29086fs)
|
rs1702209747
|
|
|
NM_001267550.2(TTN):c.87273dup (p.Asn29092Ter)
|
|
|
|
NM_001267550.2(TTN):c.87291del (p.Glu29098fs)
|
|
|
|
NM_001267550.2(TTN):c.87295_87296insT (p.Asn29099fs)
|
|
|
|
NM_001267550.2(TTN):c.87315dup (p.Glu29106fs)
|
rs1702181550
|
|
|
NM_001267550.2(TTN):c.87340A>T (p.Arg29114Ter)
|
|
|
|
NM_001267550.2(TTN):c.87346_87368dup (p.Ser29123fs)
|
|
|
|
NM_001267550.2(TTN):c.87366del (p.Ser29123fs)
|
rs2154156075
|
|
|
NM_001267550.2(TTN):c.87367del (p.Ser29123fs)
|
|
|
|
NM_001267550.2(TTN):c.87376_87383dup (p.Phe29129fs)
|
rs1702151195
|
|
|
NM_001267550.2(TTN):c.87451del (p.Thr29151fs)
|
rs2154156000
|
|
|
NM_001267550.2(TTN):c.87459_87460dup (p.Ser29154fs)
|
rs2154155996
|
|
|
NM_001267550.2(TTN):c.87470_87471del (p.Leu29157fs)
|
rs2154155985
|
|
|
NM_001267550.2(TTN):c.87477G>A (p.Trp29159Ter)
|
|
|
|
NM_001267550.2(TTN):c.87505C>T (p.Gln29169Ter)
|
|
|
|
NM_001267550.2(TTN):c.87515dup (p.Asn29172fs)
|
|
|
|
NM_001267550.2(TTN):c.87531_87532del (p.Glu29179fs)
|
|
|
|
NM_001267550.2(TTN):c.87532_87538del (p.Arg29178fs)
|
rs2154155943
|
|
|
NM_001267550.2(TTN):c.87554G>A (p.Trp29185Ter)
|
rs1057518275
|
|
|
NM_001267550.2(TTN):c.87555G>A (p.Trp29185Ter)
|
|
|
|
NM_001267550.2(TTN):c.87564_87606del (p.Ser29189fs)
|
|
|
|
NM_001267550.2(TTN):c.87566_87567del (p.Ser29189fs)
|
rs2154155928
|
|
|
NM_001267550.2(TTN):c.87567_87570delinsCAC (p.Ala29190fs)
|
|
|
|
NM_001267550.2(TTN):c.8758G>T (p.Glu2920Ter)
|
|
|
|
NM_001267550.2(TTN):c.8764G>T (p.Glu2922Ter)
|
|
|
|
NM_001267550.2(TTN):c.87664dup (p.Asp29222fs)
|
rs2154155844
|
|
|
NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter)
|
rs1575584918
|
|
|
NM_001267550.2(TTN):c.87707dup (p.Thr29237fs)
|
rs1575583160
|
|
|
NM_001267550.2(TTN):c.87716del (p.Gly29239fs)
|
rs869312028
|
|
|
NM_001267550.2(TTN):c.87733dup (p.Trp29245fs)
|
rs1553553671
|
|
|
NM_001267550.2(TTN):c.87734G>A (p.Trp29245Ter)
|
rs1701973330
|
|
|
NM_001267550.2(TTN):c.87735G>A (p.Trp29245Ter)
|
|
|
|
NM_001267550.2(TTN):c.87751C>T (p.Arg29251Ter)
|
rs794729299
|
|
|
NM_001267550.2(TTN):c.87757del (p.Ser29253fs)
|
|
|
|
NM_001267550.2(TTN):c.87764del (p.Thr29255fs)
|
rs2154155659
|
|
|
NM_001267550.2(TTN):c.87814del (p.Tyr29272fs)
|
|
|
|
NM_001267550.2(TTN):c.87816T>A (p.Tyr29272Ter)
|
|
|
|
NM_001267550.2(TTN):c.87818del (p.His29273fs)
|
|
|
|
NM_001267550.2(TTN):c.8781dup (p.Lys2928fs)
|
|
|
|
NM_001267550.2(TTN):c.87834_87835del (p.Asp29278fs)
|
rs2154155619
|
|
|
NM_001267550.2(TTN):c.87834_87837del (p.Asp29278fs)
|
|
|
|
NM_001267550.2(TTN):c.87835del (p.Arg29279fs)
|
rs2154155616
|
|
|
NM_001267550.2(TTN):c.87836_87837del (p.Arg29279fs)
|
rs2154155607
|
|
|
NM_001267550.2(TTN):c.87848T>G (p.Leu29283Ter)
|
|
|
|
NM_001267550.2(TTN):c.87852G>A (p.Trp29284Ter)
|
rs1701925645
|
|
|
NM_001267550.2(TTN):c.87888del (p.Phe29297fs)
|
rs1060500399
|
|
|
NM_001267550.2(TTN):c.8789_8796del (p.Val2930fs)
|
rs1574559518
|
|
|
NM_001267550.2(TTN):c.87931_87935dup (p.Tyr29313fs)
|
rs2154155550
|
|
|
NM_001267550.2(TTN):c.87939T>G (p.Tyr29313Ter)
|
rs200314496
|
|
|
NM_001267550.2(TTN):c.87947del (p.Asn29316fs)
|
|
|
|
NM_001267550.2(TTN):c.87954del (p.Gly29319fs)
|
rs2154155537
|
|
|
NM_001267550.2(TTN):c.87977del (p.Pro29326fs)
|
|
|
|
NM_001267550.2(TTN):c.88000del (p.Asp29334fs)
|
|
|
|
NM_001267550.2(TTN):c.88009+2T>G
|
rs1701869111
|
|
|
NM_001267550.2(TTN):c.88029dup (p.Ile29344fs)
|
|
|
|
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)
|
rs878854428
|
|
|
NM_001267550.2(TTN):c.88068G>A (p.Trp29356Ter)
|
|
|
|
NM_001267550.2(TTN):c.88091_88094del (p.Gly29364fs)
|
rs2154155280
|
|
|
NM_001267550.2(TTN):c.88092dup (p.Ser29365Ter)
|
|
|
|
NM_001267550.2(TTN):c.88093del (p.Ser29365fs)
|
|
|
|
NM_001267550.2(TTN):c.88121_88122del (p.Arg29374fs)
|
|
|
|
NM_001267550.2(TTN):c.88124del (p.Arg29375fs)
|
|
|
|
NM_001267550.2(TTN):c.88173del (p.Glu29392fs)
|
|
|
|
NM_001267550.2(TTN):c.88177del (p.Thr29393fs)
|
rs1575576927
|
|
|
NM_001267550.2(TTN):c.88204C>T (p.Gln29402Ter)
|
rs1701741963
|
|
|
NM_001267550.2(TTN):c.88306+1G>C
|
rs727503550
|
|
|
NM_001267550.2(TTN):c.88307-1G>A
|
|
|
|
NM_001267550.2(TTN):c.88313dup (p.Val29439fs)
|
rs2154153508
|
|
|
NM_001267550.2(TTN):c.88342G>T (p.Glu29448Ter)
|
|
|
|
NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter)
|
rs1553547657
|
|
|
NM_001267550.2(TTN):c.88437dup (p.Glu29480fs)
|
rs2154153430
|
|
|
NM_001267550.2(TTN):c.88456del (p.Leu29486fs)
|
|
|
|
NM_001267550.2(TTN):c.88521_88522del (p.Asn29507fs)
|
|
|
|
NM_001267550.2(TTN):c.88562C>A (p.Ser29521Ter)
|
rs1436663696
|
|
|
NM_001267550.2(TTN):c.8858_8859del (p.Phe2953fs)
|
rs2154342483
|
|
|
NM_001267550.2(TTN):c.88594_88595insGTAGGTGCTGAATACAGACCACTGTCATATTACATTTGCCTAAAGCTTAGTAATTTTGAACAAGTAGGCTTTAAAGAAGTACTAACATCGTGTTTTGTCCTTTCACTGATAGACAAACCAGGCCCACCTGGTGGACCAATTGAATTTAAGACTGTAACTGCTGAGAAGATCACCCTTCTCTGGCGGCCTCCAGCTGATGATGGTGGTGAAACCTGCGCCTACTATTGAGTGGTATAAAGATGATAAAGAATTACAAACCAATGCACTGGTGTGTGTTGAAAATACCACGGACCTCGCATCTATACTCATCAAAGATGCCGATCGCCTTAATAGTGGATGCTATGAATTAAAACTAAGGAATGCCATGGGCTCAGCCTCAGCCACCATCAGAGTACAGATCCTTGGTAGGTGCTGAATACAGACCACTGTCATATTACATTTGCCTAAAGCTTAGTAATTTTGAACAAGTAGGCTTTAAAGAAGTACTAACATCGTGTTTTGTCCTTTCACTGATAG (p.Asp29532delinsGlyArgCysTer)
|
|
|
|
NM_001267550.2(TTN):c.88688del (p.Gly29563fs)
|
|
|
|
NM_001267550.2(TTN):c.88696del (p.Ile29566fs)
|
rs1064796323
|
|
|
NM_001267550.2(TTN):c.88703_88704del (p.His29568fs)
|
rs794729360
|
|
|
NM_001267550.2(TTN):c.88721del (p.Arg29574fs)
|
rs1575547155
|
|
|
NM_001267550.2(TTN):c.88742G>A (p.Trp29581Ter)
|
|
|
|
NM_001267550.2(TTN):c.88807G>T (p.Glu29603Ter)
|
|
|
|
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter)
|
rs766450773
|
|
|
NM_001267550.2(TTN):c.8884del (p.Ala2962fs)
|
rs794729372
|
|
|
NM_001267550.2(TTN):c.88852_88855del (p.Glu29618fs)
|
rs2154152955
|
|
|
NM_001267550.2(TTN):c.88895-1G>A
|
rs1575540533
|
|
|
NM_001267550.2(TTN):c.88954_88955del (p.Val29652fs)
|
|
|
|
NM_001267550.2(TTN):c.88962G>A (p.Trp29654Ter)
|
|
|
|
NM_001267550.2(TTN):c.88979_88985del (p.Asp29660fs)
|
rs794727468
|
|
|
NM_001267550.2(TTN):c.89006del (p.Phe29669fs)
|
rs794729361
|
|
|
NM_001267550.2(TTN):c.89006dup (p.Leu29670fs)
|
rs794729361
|
|
|
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)
|
rs886038916
|
|
|
NM_001267550.2(TTN):c.8903-2A>T
|
|
|
|
NM_001267550.2(TTN):c.89053A>T (p.Lys29685Ter)
|
|
|
|
NM_001267550.2(TTN):c.89054_89069del (p.Lys29685fs)
|
|
|
|
NM_001267550.2(TTN):c.89075_89078del (p.Arg29692fs)
|
|
|
|
NM_001267550.2(TTN):c.89077C>T (p.Gln29693Ter)
|
|
|
|
NM_001267550.2(TTN):c.89083del (p.Lys29694_Val29695insTer)
|
rs2154152514
|
|
|
NM_001267550.2(TTN):c.89118C>A (p.Tyr29706Ter)
|
rs1700331549
|
|
|
NM_001267550.2(TTN):c.89118_89119del (p.Tyr29706_Arg29707delinsTer)
|
|
|
|
NM_001267550.2(TTN):c.89121_89122del (p.Arg29707fs)
|
rs2154152480
|
|
|
NM_001267550.2(TTN):c.89144dup (p.Gln29716fs)
|
|
|
|
NM_001267550.2(TTN):c.89150del (p.Gly29717fs)
|
rs2154152449
|
|
|
NM_001267550.2(TTN):c.89178C>G (p.Tyr29726Ter)
|
|
|
|
NM_001267550.2(TTN):c.89198-1G>A
|
|
|
|
NM_001267550.2(TTN):c.89221dup (p.Ile29741fs)
|
rs1553543413
|
|
|
NM_001267550.2(TTN):c.89222_89226del (p.Ile29741fs)
|
rs1575534947
|
|
|
NM_001267550.2(TTN):c.89270del (p.Lys29757fs)
|
rs794729362
|
|
|
NM_001267550.2(TTN):c.89275_89278del (p.Val29759fs)
|
|
|
|
NM_001267550.2(TTN):c.89279_89280del (p.Val29759_Tyr29760insTer)
|
|
|
|
NM_001267550.2(TTN):c.89280T>A (p.Tyr29760Ter)
|
rs794729385
|
|
|
NM_001267550.2(TTN):c.89306_89307del (p.Tyr29769fs)
|
|
|
|
NM_001267550.2(TTN):c.89307T>A (p.Tyr29769Ter)
|
|
|
|
NM_001267550.2(TTN):c.89307T>G (p.Tyr29769Ter)
|
|
|
|
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter)
|
rs200503016
|
|
|
NM_001267550.2(TTN):c.89322_89326del (p.Gln29775fs)
|
|
|
|
NM_001267550.2(TTN):c.89332del (p.Glu29778fs)
|
|
|
|
NM_001267550.2(TTN):c.89335G>T (p.Glu29779Ter)
|
rs2154152175
|
|
|
NM_001267550.2(TTN):c.89342G>A (p.Trp29781Ter)
|
|
|
|
NM_001267550.2(TTN):c.8938_8939insTTGG (p.Ala2980fs)
|
|
|
|
NM_001267550.2(TTN):c.8938del (p.Ala2980fs)
|
|
|
|
NM_001267550.2(TTN):c.89425del (p.Arg29809fs)
|
|
|
|
NM_001267550.2(TTN):c.89445_89446del (p.Ala29816fs)
|
|
|
|
NM_001267550.2(TTN):c.89448del (p.Gly29817fs)
|
|
|
|
NM_001267550.2(TTN):c.89449G>T (p.Gly29817Ter)
|
|
|
|
NM_001267550.2(TTN):c.89475_89478del (p.Glu29826fs)
|
|
|
|
NM_001267550.2(TTN):c.89503+1G>C
|
rs1559218619
|
|
|
NM_001267550.2(TTN):c.89504-2_89509del
|
|
|
|
NM_001267550.2(TTN):c.89553del (p.Ala29853fs)
|
rs1575529262
|
|
|
NM_001267550.2(TTN):c.89619dup (p.Arg29874fs)
|
|
|
|
NM_001267550.2(TTN):c.89625del (p.Asp29876fs)
|
rs1559216544
|
|
|
NM_001267550.2(TTN):c.89658C>A (p.Tyr29886Ter)
|
rs1700085960
|
|
|
NM_001267550.2(TTN):c.89684C>G (p.Ser29895Ter)
|
|
|
|
NM_001267550.2(TTN):c.89730T>A (p.Tyr29910Ter)
|
|
|
|
NM_001267550.2(TTN):c.89777dup (p.Ser29927fs)
|
|
|
|
NM_001267550.2(TTN):c.89786_89787dup (p.Val29930fs)
|
|
|
|
NM_001267550.2(TTN):c.89827A>T (p.Lys29943Ter)
|
rs2154151737
|
|
|
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter)
|
rs727505224
|
|
|
NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter)
|
rs1060500457
|
|
|
NM_001267550.2(TTN):c.89882_89885del (p.Gly29961fs)
|
rs2154151697
|
|
|
NM_001267550.2(TTN):c.89884G>T (p.Gly29962Ter)
|
rs2154151700
|
|
|
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs)
|
rs869312081
|
|
|
NM_001267550.2(TTN):c.89920_89921del (p.Asp29974fs)
|
rs1553540975
|
|
|
NM_001267550.2(TTN):c.89933_89934del (p.Arg29978fs)
|
|
|
|
NM_001267550.2(TTN):c.89940del (p.Trp29980fs)
|
|
|
|
NM_001267550.2(TTN):c.89966del (p.Ser29989fs)
|
|
|
|
NM_001267550.2(TTN):c.89979del (p.Lys29993fs)
|
|
|
|
NM_001267550.2(TTN):c.8997del (p.Ser2998_Tyr2999insTer)
|
|
|
|
NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter)
|
rs376543931
|
|
|
NM_001267550.2(TTN):c.90054del (p.Cys30019fs)
|
|
|
|
NM_001267550.2(TTN):c.90058G>T (p.Glu30020Ter)
|
rs1699956677
|
|
|
NM_001267550.2(TTN):c.90085G>T (p.Glu30029Ter)
|
rs1699948037
|
|
|
NM_001267550.2(TTN):c.90085del (p.Glu30029fs)
|
|
|
|
NM_001267550.2(TTN):c.90113C>G (p.Ser30038Ter)
|
|
|
|
NM_001267550.2(TTN):c.90133_90134insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGACTCAACAAAGA (p.Thr30045fs)
|
|
|
|
NM_001267550.2(TTN):c.90135dup (p.Ser30046fs)
|
|
|
|
NM_001267550.2(TTN):c.90152G>A (p.Trp30051Ter)
|
|
|
|
NM_001267550.2(TTN):c.90195T>A (p.Tyr30065Ter)
|
rs920201335
|
|
|
NM_001267550.2(TTN):c.90208_90209insSVAelement
|
|
|
|
NM_001267550.2(TTN):c.90223C>T (p.Gln30075Ter)
|
rs786205538
|
|
|
NM_001267550.2(TTN):c.90231G>A (p.Trp30077Ter)
|
rs2154151450
|
|
|
NM_001267550.2(TTN):c.90249del (p.Ser30083fs)
|
rs2154151435
|
|
|
NM_001267550.2(TTN):c.90306_90307del (p.Arg30102fs)
|
rs2154151379
|
|
|
NM_001267550.2(TTN):c.90358del (p.Ile30120fs)
|
rs1699849996
|
|
|
NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)
|
rs1553539995
|
|
|
NM_001267550.2(TTN):c.90388G>T (p.Glu30130Ter)
|
rs2154151318
|
|
|
NM_001267550.2(TTN):c.90415_90421dup (p.Val30141fs)
|
rs1699828609
|
|
|
NM_001267550.2(TTN):c.90418C>T (p.Gln30140Ter)
|
rs2154151302
|
|
|
NM_001267550.2(TTN):c.90466A>T (p.Lys30156Ter)
|
|
|
|
NM_001267550.2(TTN):c.9047del (p.Met3016fs)
|
|
|
|
NM_001267550.2(TTN):c.90486_90489del (p.Ile30163fs)
|
rs2154151260
|
|
|
NM_001267550.2(TTN):c.90495G>A (p.Trp30165Ter)
|
|
|
|
NM_001267550.2(TTN):c.9050del (p.Arg3017fs)
|
|
|
|
NM_001267550.2(TTN):c.90566dup (p.Leu30189fs)
|
|
|
|
NM_001267550.2(TTN):c.90587del (p.Lys30196fs)
|
rs397517749
|
|
|
NM_001267550.2(TTN):c.90587dup (p.Glu30197fs)
|
|
|
|
NM_001267550.2(TTN):c.90594dup (p.Gly30199fs)
|
rs1553539686
|
|
|
NM_001267550.2(TTN):c.90605dup (p.Tyr30202Ter)
|
rs2154151177
|
|
|
NM_001267550.2(TTN):c.90623dup (p.Asn30208fs)
|
rs1553539620
|
|
|
NM_001267550.2(TTN):c.90628del (p.Val30210fs)
|
rs2154151163
|
|
|
NM_001267550.2(TTN):c.90653_90654del (p.Thr30218fs)
|
rs794729363
|
|
|
NM_001267550.2(TTN):c.90657del (p.Ile30220fs)
|
|
|
|
NM_001267550.2(TTN):c.90696del (p.Arg30233fs)
|
rs1699711208
|
|
|
NM_001267550.2(TTN):c.90699del (p.Phe30234fs)
|
rs2154151080
|
|
|
NM_001267550.2(TTN):c.90702del (p.Phe30234fs)
|
|
|
|
NM_001267550.2(TTN):c.90737G>A (p.Trp30246Ter)
|
rs2154151058
|
|
|
NM_001267550.2(TTN):c.90739del (p.Asp30247fs)
|
|
|
|
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter)
|
rs1060500495
|
|
|
NM_001267550.2(TTN):c.90815G>A (p.Trp30272Ter)
|
|
|
|
NM_001267550.2(TTN):c.90819del (p.Met30274fs)
|
|
|
|
NM_001267550.2(TTN):c.90844del (p.Thr30282fs)
|
rs2154150991
|
|
|
NM_001267550.2(TTN):c.90883dup (p.Tyr30295fs)
|
rs1699641688
|
|
|
NM_001267550.2(TTN):c.90910A>T (p.Arg30304Ter)
|
rs773538148
|
|
|
NM_001267550.2(TTN):c.90914dup (p.Tyr30305Ter)
|
|
|
|
NM_001267550.2(TTN):c.90915C>G (p.Tyr30305Ter)
|
|
|
|
NM_001267550.2(TTN):c.90994_90997dup (p.Ile30333fs)
|
rs1559200975
|
|
|
NM_001267550.2(TTN):c.91+1G>A
|
rs2154360987
|
|
|
NM_001267550.2(TTN):c.91025C>A (p.Ser30342Ter)
|
rs2154150847
|
|
|
NM_001267550.2(TTN):c.91061C>G (p.Ser30354Ter)
|
|
|
|
NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs)
|
rs769422187
|
|
|
NM_001267550.2(TTN):c.91101_91102dup (p.Ser30368fs)
|
|
|
|
NM_001267550.2(TTN):c.9112T>C (p.Tyr3038His)
|
rs886037909
|
|
|
NM_001267550.2(TTN):c.91192del (p.Arg30398fs)
|
|
|
|
NM_001267550.2(TTN):c.91222_91231del (p.Ser30408fs)
|
|
|
|
NM_001267550.2(TTN):c.91257del (p.Val30420fs)
|
|
|
|
NM_001267550.2(TTN):c.91270+1G>A
|
rs2154150675
|
|
|
NM_001267550.2(TTN):c.91312del (p.Thr30438fs)
|
|
|
|
NM_001267550.2(TTN):c.91343_91344insA (p.Arg30448_Asp30449insTer)
|
rs2154150232
|
|
|
NM_001267550.2(TTN):c.914+1G>A
|
|
|
|
NM_001267550.2(TTN):c.91445_91446del (p.Thr30482fs)
|
rs1699247877
|
|
|
NM_001267550.2(TTN):c.9145_9148dup (p.Thr3050fs)
|
|
|
|
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter)
|
rs727504646
|
|
|
NM_001267550.2(TTN):c.915-2A>G
|
|
|
|
NM_001267550.2(TTN):c.91551_91552del (p.Arg30518_Asp30519insTer)
|
|
|
|
NM_001267550.2(TTN):c.91563dup (p.Val30522fs)
|
|
|
|
NM_001267550.2(TTN):c.91564+2T>C
|
rs1699208458
|
|
|
NM_001267550.2(TTN):c.91589del (p.Pro30530fs)
|
|
|
|
NM_001267550.2(TTN):c.91615_91616dup (p.Gly30541fs)
|
rs1559187287
|
|
|
NM_001267550.2(TTN):c.9164-1G>A
|
rs2090846146
|
|
|
NM_001267550.2(TTN):c.91655del (p.Gly30552fs)
|
rs1698781465
|
|
|
NM_001267550.2(TTN):c.91669C>T (p.Arg30557Ter)
|
rs1553536305
|
|
|
NM_001267550.2(TTN):c.91678_91685dup (p.Lys30562fs)
|
rs2154148938
|
|
|
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs)
|
rs779129892
|
|
|
NM_001267550.2(TTN):c.91791del (p.Val30596_Tyr30597insTer)
|
|
|
|
NM_001267550.2(TTN):c.91791dup (p.Thr30598fs)
|
|
|
|
NM_001267550.2(TTN):c.91798_91799insT (p.Glu30600fs)
|
rs886042502
|
|
|
NM_001267550.2(TTN):c.91839dup (p.Val30614fs)
|
rs730880365
|
|
|
NM_001267550.2(TTN):c.91859del (p.Pro30620fs)
|
|
|
|
NM_001267550.2(TTN):c.91875del (p.Pro30626fs)
|
rs757451467
|
|
|
NM_001267550.2(TTN):c.91896_91897insGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATTCACCAATATT (p.Thr30633fs)
|
|
|
|
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter)
|
rs1698600051
|
|
|
NM_001267550.2(TTN):c.91923_91932del (p.Trp30641fs)
|
|
|
|
NM_001267550.2(TTN):c.9192del (p.Lys3065fs)
|
|
|
|
NM_001267550.2(TTN):c.91932dup (p.Leu30645fs)
|
|
|
|
NM_001267550.2(TTN):c.91965C>A (p.Tyr30655Ter)
|
rs1060500402
|
|
|
NM_001267550.2(TTN):c.91977del (p.Lys30659fs)
|
|
|
|
NM_001267550.2(TTN):c.91993del (p.Ala30666fs)
|
|
|
|
NM_001267550.2(TTN):c.92-1G>A
|
|
|
|
NM_001267550.2(TTN):c.92017A>T (p.Lys30673Ter)
|
rs2154148429
|
|
|
NM_001267550.2(TTN):c.92049del (p.Lys30683fs)
|
|
|
|
NM_001267550.2(TTN):c.9205del (p.Val3069fs)
|
|
|
|
NM_001267550.2(TTN):c.92063del (p.Asn30688fs)
|
|
|
|
NM_001267550.2(TTN):c.92079dup (p.Val30694fs)
|
rs2154148371
|
|
|
NM_001267550.2(TTN):c.92146C>T (p.Gln30716Ter)
|
|
|
|
NM_001267550.2(TTN):c.92152+1G>C
|
|
|
|
NM_001267550.2(TTN):c.92159del (p.Pro30720fs)
|
|
|
|
NM_001267550.2(TTN):c.92169del (p.Gly30724fs)
|
|
|
|
NM_001267550.2(TTN):c.92173dup (p.Ile30725fs)
|
|
|
|
NM_001267550.2(TTN):c.92179del (p.Glu30727fs)
|
|
|
|
NM_001267550.2(TTN):c.9220C>T (p.Arg3074Ter)
|
rs780706937
|
|
|
NM_001267550.2(TTN):c.92219G>A (p.Trp30740Ter)
|
|
|
|
NM_001267550.2(TTN):c.92236_92237del (p.Asp30746fs)
|
rs2154148134
|
|
|
NM_001267550.2(TTN):c.92248_92260del (p.Glu30750fs)
|
|
|
|
NM_001267550.2(TTN):c.92278del (p.Glu30760fs)
|
|
|
|
NM_001267550.2(TTN):c.92284_92288del (p.Lys30762fs)
|
rs756367933
|
|
|
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs)
|
rs756367933
|
|
|
NM_001267550.2(TTN):c.92294del (p.Arg30765fs)
|
|
|
|
NM_001267550.2(TTN):c.92298G>A (p.Trp30766Ter)
|
|
|
|
NM_001267550.2(TTN):c.92498del (p.Thr30833fs)
|
rs2154147918
|
|
|
NM_001267550.2(TTN):c.92504del (p.Lys30835fs)
|
rs2154147910
|
|
|
NM_001267550.2(TTN):c.92519T>G (p.Leu30840Ter)
|
|
|
|
NM_001267550.2(TTN):c.92525G>A (p.Trp30842Ter)
|
|
|
|
NM_001267550.2(TTN):c.92526G>A (p.Trp30842Ter)
|
rs2154147893
|
|
|
NM_001267550.2(TTN):c.92569_92570del (p.Ile30857fs)
|
rs2154147864
|
|
|
NM_001267550.2(TTN):c.92603G>A (p.Trp30868Ter)
|
rs2154147843
|
|
|
NM_001267550.2(TTN):c.92604G>A (p.Trp30868Ter)
|
|
|
|
NM_001267550.2(TTN):c.92609dup (p.Val30871fs)
|
|
|
|
NM_001267550.2(TTN):c.92652_92659del (p.Asp30885fs)
|
rs1559175090
|
|
|
NM_001267550.2(TTN):c.92659C>T (p.Gln30887Ter)
|
rs1305222903
|
|
|
NM_001267550.2(TTN):c.92671G>T (p.Glu30891Ter)
|
|
|
|
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)
|
rs869312065
|
|
|
NM_001267550.2(TTN):c.92688_92691dup (p.Ala30898Ter)
|
|
|
|
NM_001267550.2(TTN):c.9270G>A (p.Trp3090Ter)
|
rs2154341535
|
|
|
NM_001267550.2(TTN):c.92795_92798del (p.Lys30932fs)
|
|
|
|
NM_001267550.2(TTN):c.92797C>T (p.Gln30933Ter)
|
rs1553532356
|
|
|
NM_001267550.2(TTN):c.92883del (p.Lys30961fs)
|
|
|
|
NM_001267550.2(TTN):c.92884_92887del (p.Pro30962fs)
|
rs1698201730
|
|
|
NM_001267550.2(TTN):c.9291_9292delinsTT (p.Gln3098Ter)
|
rs1574528825
|
|
|
NM_001267550.2(TTN):c.92962A>T (p.Arg30988Ter)
|
rs1698169393
|
|
|
NM_001267550.2(TTN):c.93034A>T (p.Lys31012Ter)
|
rs2154147529
|
|
|
NM_001267550.2(TTN):c.93050del (p.Pro31017fs)
|
|
|
|
NM_001267550.2(TTN):c.93091G>T (p.Gly31031Ter)
|
rs907669905
|
|
|
NM_001267550.2(TTN):c.93106dup (p.Met31036fs)
|
rs2154147449
|
|
|
NM_001267550.2(TTN):c.93110G>A (p.Trp31037Ter)
|
|
|
|
NM_001267550.2(TTN):c.93119dup (p.Leu31041fs)
|
|
|
|
NM_001267550.2(TTN):c.93145_93146del (p.His31049fs)
|
|
|
|
NM_001267550.2(TTN):c.93153T>G (p.Tyr31051Ter)
|
|
|
|
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)
|
rs72648250
|
|
|
NM_001267550.2(TTN):c.93168del (p.Glu31057fs)
|
|
|
|
NM_001267550.2(TTN):c.93181del (p.Arg31061fs)
|
rs2154147379
|
|
|
NM_001267550.2(TTN):c.9325A>T (p.Lys3109Ter)
|
|
|
|
NM_001267550.2(TTN):c.93288T>A (p.Tyr31096Ter)
|
|
|
|
NM_001267550.2(TTN):c.93316G>T (p.Glu31106Ter)
|
|
|
|
NM_001267550.2(TTN):c.93333del (p.Glu31112fs)
|
|
|
|
NM_001267550.2(TTN):c.93337C>T (p.Gln31113Ter)
|
rs1454572839
|
|
|
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer)
|
rs886044536
|
|
|
NM_001267550.2(TTN):c.93402G>A (p.Trp31134Ter)
|
|
|
|
NM_001267550.2(TTN):c.93541G>T (p.Glu31181Ter)
|
rs1243301263
|
|
|
NM_001267550.2(TTN):c.93592del (p.Arg31198fs)
|
|
|
|
NM_001267550.2(TTN):c.93600dup (p.Phe31201fs)
|
|
|
|
NM_001267550.2(TTN):c.93641del (p.Thr31214fs)
|
|
|
|
NM_001267550.2(TTN):c.9372dup (p.Gly3125fs)
|
|
|
|
NM_001267550.2(TTN):c.93735del (p.Lys31246_Val31247insTer)
|
|
|
|
NM_001267550.2(TTN):c.93735dup (p.Lys31246fs)
|
|
|
|
NM_001267550.2(TTN):c.93754del (p.Glu31252fs)
|
|
|
|
NM_001267550.2(TTN):c.93764_93765del (p.Arg31255fs)
|
|
|
|
NM_001267550.2(TTN):c.93766del (p.Glu31258fs)
|
|
|
|
NM_001267550.2(TTN):c.93772G>T (p.Glu31258Ter)
|
|
|
|
NM_001267550.2(TTN):c.93781C>T (p.Arg31261Ter)
|
rs1553528016
|
|
|
NM_001267550.2(TTN):c.93784_93785insCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGACAGATCGAG (p.Arg31261_Val31262insAlaProSerProValSerLeuSerLeuSerArgLeuProLeuProLeuProSerProSerProSerProValSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluThrAspArg)
|
rs2154146971
|
|
|
NM_001267550.2(TTN):c.9384dup (p.Val3129fs)
|
rs727503683
|
|
|
NM_001267550.2(TTN):c.93850G>T (p.Gly31284Ter)
|
|
|
|
NM_001267550.2(TTN):c.93853A>T (p.Arg31285Ter)
|
|
|
|
NM_001267550.2(TTN):c.93897del (p.Phe31299fs)
|
rs397517758
|
|
|
NM_001267550.2(TTN):c.93919G>T (p.Gly31307Ter)
|
|
|
|
NM_001267550.2(TTN):c.93956C>A (p.Ser31319Ter)
|
rs2154146843
|
|
|
NM_001267550.2(TTN):c.93970G>T (p.Glu31324Ter)
|
|
|
|
NM_001267550.2(TTN):c.94032C>A (p.Tyr31344Ter)
|
|
|
|
NM_001267550.2(TTN):c.94067G>A (p.Trp31356Ter)
|
|
|
|
NM_001267550.2(TTN):c.94099C>T (p.Gln31367Ter)
|
|
|
|
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs)
|
rs769488730
|
|
|
NM_001267550.2(TTN):c.94108del (p.Val31370fs)
|
|
|
|
NM_001267550.2(TTN):c.94128del (p.Lys31375_Tyr31376insTer)
|
rs2154146720
|
|
|
NM_001267550.2(TTN):c.94167del (p.Phe31389fs)
|
|
|
|
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs)
|
rs727503547
|
|
|
NM_001267550.2(TTN):c.94182_94183insAGCAGCT (p.Leu31395fs)
|
rs1219954334
|
|
|
NM_001267550.2(TTN):c.9420_9421del (p.Phe3141fs)
|
rs2154341414
|
|
|
NM_001267550.2(TTN):c.94220-1G>A
|
rs1553525592
|
|
|
NM_001267550.2(TTN):c.94220-1G>C
|
|
|
|
NM_001267550.2(TTN):c.94220-1G>T
|
|
|
|
NM_001267550.2(TTN):c.94220-2A>G
|
|
|
|
NM_001267550.2(TTN):c.9422_9423del (p.Phe3141fs)
|
|
|
|
NM_001267550.2(TTN):c.94263del (p.Ala31422fs)
|
|
|
|
NM_001267550.2(TTN):c.94266dup (p.Asn31423fs)
|
|
|
|
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter)
|
rs1697595705
|
|
|
NM_001267550.2(TTN):c.94331G>A (p.Trp31444Ter)
|
rs1429264347
|
|
|
NM_001267550.2(TTN):c.94332G>A (p.Trp31444Ter)
|
rs1697578690
|
|
|
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs)
|
rs727503546
|
|
|
NM_001267550.2(TTN):c.94344dup (p.Glu31449fs)
|
|
|
|
NM_001267550.2(TTN):c.94365G>A (p.Trp31455Ter)
|
|
|
|
NM_001267550.2(TTN):c.94371del (p.Glu31458fs)
|
rs1553524807
|
|
|
NM_001267550.2(TTN):c.94394_94397delinsTA (p.Glu31465fs)
|
|
|
|
NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter)
|
rs1553524697
|
|
|
NM_001267550.2(TTN):c.94407del (p.Lys31469_Val31470insTer)
|
|
|
|
NM_001267550.2(TTN):c.94418T>A (p.Leu31473Ter)
|
|
|
|
NM_001267550.2(TTN):c.94437T>G (p.Tyr31479Ter)
|
|
|
|
NM_001267550.2(TTN):c.94448del (p.Thr31483fs)
|
rs2154146389
|
|
|
NM_001267550.2(TTN):c.94493C>G (p.Ser31498Ter)
|
|
|
|
NM_001267550.2(TTN):c.9454_9471+102del
|
|
|
|
NM_001267550.2(TTN):c.94562C>G (p.Ser31521Ter)
|
|
|
|
NM_001267550.2(TTN):c.94567dup (p.Val31523fs)
|
|
|
|
NM_001267550.2(TTN):c.94581G>A (p.Trp31527Ter)
|
|
|
|
NM_001267550.2(TTN):c.94596T>A (p.Tyr31532Ter)
|
|
|
|
NM_001267550.2(TTN):c.9461del (p.Lys3154fs)
|
rs2154341391
|
|
|
NM_001267550.2(TTN):c.94667G>A (p.Trp31556Ter)
|
rs868156117
|
|
|
NM_001267550.2(TTN):c.9471+1G>T
|
|
|
|
NM_001267550.2(TTN):c.94740T>G (p.Tyr31580Ter)
|
|
|
|
NM_001267550.2(TTN):c.94747_94748del (p.Arg31583fs)
|
rs1697311515
|
|
|
NM_001267550.2(TTN):c.94752_94753del (p.Leu31585fs)
|
|
|
|
NM_001267550.2(TTN):c.94752_94753dup (p.Leu31585fs)
|
|
|
|
NM_001267550.2(TTN):c.94788del (p.Ser31597fs)
|
|
|
|
NM_001267550.2(TTN):c.94805_94806del (p.Pro31602fs)
|
|
|
|
NM_001267550.2(TTN):c.94805del (p.Pro31602fs)
|
|
|
|
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter)
|
rs1060500435
|
|
|
NM_001267550.2(TTN):c.94827C>G (p.Tyr31609Ter)
|
|
|
|
NM_001267550.2(TTN):c.94903_94904del (p.Leu31635fs)
|
|
|
|
NM_001267550.2(TTN):c.94939del (p.Ile31647fs)
|
rs1553521978
|
|
|
NM_001267550.2(TTN):c.94991T>A (p.Leu31664Ter)
|
rs2154145831
|
|
|
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter)
|
rs1322596650
|
|
|
NM_001267550.2(TTN):c.95023_95024del (p.Ile31675fs)
|
rs1697105934
|
|
|
NM_001267550.2(TTN):c.95051_95070del (p.Gly31684fs)
|
rs2154145769
|
|
|
NM_001267550.2(TTN):c.95055del (p.Lys31685fs)
|
rs1174834630
|
|
|
NM_001267550.2(TTN):c.95062_95063del (p.Leu31688fs)
|
rs2154145784
|
|
|
NM_001267550.2(TTN):c.95063T>A (p.Leu31688Ter)
|
rs794729538
|
|
|
NM_001267550.2(TTN):c.95063T>G (p.Leu31688Ter)
|
rs794729538
|
|
|
NM_001267550.2(TTN):c.95075dup (p.Asn31692fs)
|
rs1697077852
|
|
|
NM_001267550.2(TTN):c.95119+1G>C
|
|
|
|
NM_001267550.2(TTN):c.95120-2A>G
|
rs2154145628
|
|
|
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)
|
rs869320739
|
|
|
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)
|
rs869320740
|
|
|
NM_001267550.2(TTN):c.95163_95176del (p.Gln31722fs)
|
|
|
|
NM_001267550.2(TTN):c.95164C>T (p.Gln31722Ter)
|
rs2154145603
|
|
|
NM_001267550.2(TTN):c.95200del (p.Glu31734fs)
|
|
|
|
NM_001267550.2(TTN):c.95232del (p.Ile31744fs)
|
|
|
|
NM_001267550.2(TTN):c.95246del (p.Glu31749fs)
|
rs1696922090
|
|
|
NM_001267550.2(TTN):c.95264G>A (p.Trp31755Ter)
|
rs1696912764
|
|
|
NM_001267550.2(TTN):c.95265G>A (p.Trp31755Ter)
|
|
|
|
NM_001267550.2(TTN):c.95266del (p.Trp31755_Val31756insTer)
|
rs2154145523
|
|
|
NM_001267550.2(TTN):c.95289_95298del (p.Thr31764fs)
|
rs1575442120
|
|
|
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter)
|
rs780414947
|
|
|
NM_001267550.2(TTN):c.95358_95361del (p.Lys31787fs)
|
|
|
|
NM_001267550.2(TTN):c.95370dup (p.Gly31791fs)
|
rs2154145442
|
|
|
NM_001267550.2(TTN):c.95415_95416+2del
|
rs769407533
|
|
|
NM_001267550.2(TTN):c.95446G>T (p.Glu31816Ter)
|
|
|
|
NM_001267550.2(TTN):c.95469dup (p.Ile31824fs)
|
rs1553520581
|
|
|
NM_001267550.2(TTN):c.9548del (p.Gly3183fs)
|
rs2090460301
|
|
|
NM_001267550.2(TTN):c.95490del (p.Lys31830fs)
|
|
|
|
NM_001267550.2(TTN):c.95490dup (p.Pro31831fs)
|
rs2154145209
|
|
|
NM_001267550.2(TTN):c.9553G>T (p.Glu3185Ter)
|
|
|
|
NM_001267550.2(TTN):c.95576_95577del (p.Lys31859fs)
|
|
|
|
NM_001267550.2(TTN):c.95584_95591dup (p.Tyr31864Ter)
|
|
|
|
NM_001267550.2(TTN):c.95613del (p.Ser31872fs)
|
|
|
|
NM_001267550.2(TTN):c.95669del (p.Gly31890fs)
|
rs2154145062
|
|
|
NM_001267550.2(TTN):c.95722+1G>C
|
|
|
|
NM_001267550.2(TTN):c.95723-2A>C
|
rs2154144335
|
|
|
NM_001267550.2(TTN):c.95735del (p.Pro31912fs)
|
rs1553519454
|
|
|
NM_001267550.2(TTN):c.95738del (p.Pro31913fs)
|
|
|
|
NM_001267550.2(TTN):c.95747_95753del (p.Pro31916fs)
|
|
|
|
NM_001267550.2(TTN):c.95747del (p.Pro31916fs)
|
|
|
|
NM_001267550.2(TTN):c.95770del (p.His31924fs)
|
rs794729364
|
|
|
NM_001267550.2(TTN):c.95772_95773del (p.His31924fs)
|
rs1060500544
|
|
|
NM_001267550.2(TTN):c.9577_9613del (p.Arg3193fs)
|
|
|
|
NM_001267550.2(TTN):c.95802del (p.Met31934fs)
|
|
|
|
NM_001267550.2(TTN):c.95805C>A (p.Tyr31935Ter)
|
rs375076970
|
|
|
NM_001267550.2(TTN):c.95806del (p.Asp31936fs)
|
|
|
|
NM_001267550.2(TTN):c.95829_95830insG (p.Tyr31944fs)
|
|
|
|
NM_001267550.2(TTN):c.95833del (p.Val31945fs)
|
|
|
|
NM_001267550.2(TTN):c.95845C>T (p.Gln31949Ter)
|
rs2154144237
|
|
|
NM_001267550.2(TTN):c.95848G>T (p.Glu31950Ter)
|
|
|
|
NM_001267550.2(TTN):c.95868G>A (p.Trp31956Ter)
|
|
|
|
NM_001267550.2(TTN):c.95872C>T (p.Arg31958Ter)
|
rs2154144218
|
|
|
NM_001267550.2(TTN):c.95992G>T (p.Glu31998Ter)
|
rs775585263
|
|
|
NM_001267550.2(TTN):c.95992del (p.Glu31998fs)
|
rs2154144138
|
|
|
NM_001267550.2(TTN):c.96003_96010dup (p.Glu32004fs)
|
|
|
|
NM_001267550.2(TTN):c.96028G>T (p.Glu32010Ter)
|
|
|
|
NM_001267550.2(TTN):c.96069dup (p.Val32024fs)
|
rs878854432
|
|
|
NM_001267550.2(TTN):c.96105_96106insACAGGAG (p.Val32036fs)
|
rs1695870572
|
|
|
NM_001267550.2(TTN):c.96110_96113del (p.Ser32037fs)
|
|
|
|
NM_001267550.2(TTN):c.96129_96136delinsGGG (p.Pro32044fs)
|
|
|
|
NM_001267550.2(TTN):c.96158_96177dup (p.Ile32060fs)
|
|
|
|
NM_001267550.2(TTN):c.96206T>A (p.Leu32069Ter)
|
|
|
|
NM_001267550.2(TTN):c.96233_96236delinsCCT (p.Tyr32078fs)
|
rs1553518529
|
|
|
NM_001267550.2(TTN):c.96260_96279dup (p.Lys32094fs)
|
rs2154143867
|
|
|
NM_001267550.2(TTN):c.96303dup (p.Val32102fs)
|
rs1695788718
|
|
|
NM_001267550.2(TTN):c.9630del (p.Arg3211fs)
|
|
|
|
NM_001267550.2(TTN):c.96310+2T>G
|
rs794729303
|
|
|
NM_001267550.2(TTN):c.96420C>A (p.Tyr32140Ter)
|
rs1009407656
|
|
|
NM_001267550.2(TTN):c.96464del (p.Val32155fs)
|
rs2154143564
|
|
|
NM_001267550.2(TTN):c.96525C>G (p.Tyr32175Ter)
|
|
|
|
NM_001267550.2(TTN):c.9657del (p.Phe3220fs)
|
|
|
|
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter)
|
rs2154143423
|
|
|
NM_001267550.2(TTN):c.96675_96676delinsG (p.Pro32226fs)
|
|
|
|
NM_001267550.2(TTN):c.96679del (p.Leu32227fs)
|
rs2154143419
|
|
|
NM_001267550.2(TTN):c.96680_96684del (p.Leu32227fs)
|
|
|
|
NM_001267550.2(TTN):c.96680del (p.Leu32227fs)
|
|
|
|
NM_001267550.2(TTN):c.96682dup (p.Tyr32228fs)
|
rs2154143418
|
|
|
NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter)
|
rs781171206
|
|
|
NM_001267550.2(TTN):c.96731del (p.Ala32244fs)
|
rs2154143380
|
|
|
NM_001267550.2(TTN):c.96742A>T (p.Arg32248Ter)
|
|
|
|
NM_001267550.2(TTN):c.96746G>A (p.Trp32249Ter)
|
rs2154143363
|
|
|
NM_001267550.2(TTN):c.96824_96831del (p.Leu32274_Phe32275insTer)
|
rs2154143307
|
|
|
NM_001267550.2(TTN):c.96838C>T (p.Gln32280Ter)
|
|
|
|
NM_001267550.2(TTN):c.96849del (p.Gly32284fs)
|
rs2154143293
|
|
|
NM_001267550.2(TTN):c.96870_96871del (p.Glu32290fs)
|
rs1695435412
|
|
|
NM_001267550.2(TTN):c.96904+1G>A
|
rs1553517092
|
|
|
NM_001267550.2(TTN):c.96905-1G>A
|
|
|
|
NM_001267550.2(TTN):c.96909dup (p.Pro32304fs)
|
rs1553516759
|
|
|
NM_001267550.2(TTN):c.96937C>T (p.Gln32313Ter)
|
rs1695289576
|
|
|
NM_001267550.2(TTN):c.96944_96945dup (p.Ile32316fs)
|
|
|
|
NM_001267550.2(TTN):c.96988del (p.Ile32330fs)
|
|
|
|
NM_001267550.2(TTN):c.96997del (p.Arg32333fs)
|
rs1695259740
|
|
|
NM_001267550.2(TTN):c.97006_97021del (p.Pro32336fs)
|
rs2154142958
|
|
|
NM_001267550.2(TTN):c.97011del (p.Ala32338fs)
|
|
|
|
NM_001267550.2(TTN):c.97025_97035del (p.Phe32341_Phe32342insTer)
|
|
|
|
NM_001267550.2(TTN):c.97062del (p.Val32355fs)
|
|
|
|
NM_001267550.2(TTN):c.97114_97135del (p.Arg32372fs)
|
|
|
|
NM_001267550.2(TTN):c.97114dup (p.Arg32372fs)
|
rs1064793419
|
|
|
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs)
|
rs748382770
|
|
|
NM_001267550.2(TTN):c.97134del (p.Glu32380fs)
|
|
|
|
NM_001267550.2(TTN):c.97141_97145del (p.Leu32381fs)
|
|
|
|
NM_001267550.2(TTN):c.97148dup (p.Asn32383fs)
|
|
|
|
NM_001267550.2(TTN):c.97179_97183del (p.Lys32393fs)
|
|
|
|
NM_001267550.2(TTN):c.9718dup (p.Gln3240fs)
|
|
|
|
NM_001267550.2(TTN):c.97192+1G>C
|
|
|
|
NM_001267550.2(TTN):c.97193-2A>C
|
|
|
|
NM_001267550.2(TTN):c.97193-2del
|
|
|
|
NM_001267550.2(TTN):c.97263G>A (p.Trp32421Ter)
|
rs2154142586
|
|
|
NM_001267550.2(TTN):c.97282_97294del (p.Asp32427_Gly32428insTer)
|
|
|
|
NM_001267550.2(TTN):c.97287del (p.Ala32430fs)
|
|
|
|
NM_001267550.2(TTN):c.97294_97295del (p.Leu32432fs)
|
rs2154142563
|
|
|
NM_001267550.2(TTN):c.97312G>T (p.Glu32438Ter)
|
|
|
|
NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter)
|
rs767837705
|
|
|
NM_001267550.2(TTN):c.97336G>T (p.Gly32446Ter)
|
|
|
|
NM_001267550.2(TTN):c.97358C>G (p.Ser32453Ter)
|
|
|
|
NM_001267550.2(TTN):c.97395del (p.Glu32466fs)
|
rs1553515473
|
|
|
NM_001267550.2(TTN):c.97405_97408dup (p.Tyr32470Ter)
|
|
|
|
NM_001267550.2(TTN):c.97417del (p.Arg32473fs)
|
|
|
|
NM_001267550.2(TTN):c.97451_97452del (p.Ser32484fs)
|
rs878854433
|
|
|
NM_001267550.2(TTN):c.97470_97492+248del
|
rs1559108136
|
|
|
NM_001267550.2(TTN):c.97472_97473del (p.Ile32491fs)
|
|
|
|
NM_001267550.2(TTN):c.97474G>T (p.Glu32492Ter)
|
|
|
|
NM_001267550.2(TTN):c.97475_97476del (p.Glu32492fs)
|
rs2154142418
|
|
|
NM_001267550.2(TTN):c.97506_97507insTT (p.Pro32503fs)
|
rs1694530382
|
|
|
NM_001267550.2(TTN):c.9751C>T (p.Gln3251Ter)
|
|
|
|
NM_001267550.2(TTN):c.97520del (p.Gln32507fs)
|
rs1694523513
|
|
|
NM_001267550.2(TTN):c.97523_97527del (p.Ile32508fs)
|
rs794729395
|
|
|
NM_001267550.2(TTN):c.97555dup (p.Thr32519fs)
|
|
|
|
NM_001267550.2(TTN):c.97588dup (p.Gln32530fs)
|
rs2154141656
|
|
|
NM_001267550.2(TTN):c.97629del (p.Asp32544fs)
|
|
|
|
NM_001267550.2(TTN):c.97633C>T (p.Arg32545Ter)
|
rs780653613
|
|
|
NM_001267550.2(TTN):c.97637G>A (p.Trp32546Ter)
|
|
|
|
NM_001267550.2(TTN):c.97647_97663dup (p.Thr32555delinsLysIleLysTyrLeuTer)
|
rs2154141588
|
|
|
NM_001267550.2(TTN):c.97813C>T (p.Gln32605Ter)
|
rs1301441435
|
|
|
NM_001267550.2(TTN):c.97829del (p.Thr32610fs)
|
|
|
|
NM_001267550.2(TTN):c.97855_97871dup (p.Glu32625fs)
|
|
|
|
NM_001267550.2(TTN):c.97927del (p.Asp32643fs)
|
|
|
|
NM_001267550.2(TTN):c.97950dup (p.Asn32651Ter)
|
rs2154140546
|
|
|
NM_001267550.2(TTN):c.98019_98031dup (p.Cys32678fs)
|
|
|
|
NM_001267550.2(TTN):c.98072del (p.Gly32691fs)
|
|
|
|
NM_001267550.2(TTN):c.98077_98080del (p.Val32693fs)
|
|
|
|
NM_001267550.2(TTN):c.98081_98082del (p.Lys32694fs)
|
|
|
|
NM_001267550.2(TTN):c.98098+1G>T
|
|
|
|
NM_001267550.2(TTN):c.98133dup (p.Glu32712fs)
|
|
|
|
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter)
|
rs727504679
|
|
|
NM_001267550.2(TTN):c.98136del (p.Gly32713fs)
|
rs2154140292
|
|
|
NM_001267550.2(TTN):c.98164del (p.Ile32722fs)
|
|
|
|
NM_001267550.2(TTN):c.98168_98169del (p.Arg32723fs)
|
rs2154140269
|
|
|
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs)
|
rs1275153634
|
|
|
NM_001267550.2(TTN):c.98183_98186del (p.Ile32728fs)
|
|
|
|
NM_001267550.2(TTN):c.98183_98186dup (p.Lys32729fs)
|
|
|
|
NM_001267550.2(TTN):c.98221del (p.Glu32741fs)
|
|
|
|
NM_001267550.2(TTN):c.98260dup (p.Ser32754fs)
|
|
|
|
NM_001267550.2(TTN):c.98299del (p.Arg32767fs)
|
rs772061676
|
|
|
NM_001267550.2(TTN):c.9829C>T (p.Gln3277Ter)
|
|
|
|
NM_001267550.2(TTN):c.98303del (p.Gly32768fs)
|
|
|
|
NM_001267550.2(TTN):c.98324del (p.Leu32775fs)
|
rs2154140145
|
|
|
NM_001267550.2(TTN):c.98375_98378dup (p.Gly32794fs)
|
|
|
|
NM_001267550.2(TTN):c.9841_9842del (p.Thr3281fs)
|
rs2090036916
|
|
|
NM_001267550.2(TTN):c.98421_98422insGG (p.Ile32808fs)
|
rs2154140080
|
|
|
NM_001267550.2(TTN):c.98432_98433dup (p.Ser32812fs)
|
|
|
|
NM_001267550.2(TTN):c.98450G>A (p.Trp32817Ter)
|
rs2154140054
|
|
|
NM_001267550.2(TTN):c.98500del (p.Glu32834fs)
|
rs2154140017
|
|
|
NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter)
|
rs727504550
|
|
|
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter)
|
rs553821887
|
|
|
NM_001267550.2(TTN):c.98574del (p.Gly32859fs)
|
|
|
|
NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro)
|
rs587780495
|
|
|
NM_001267550.2(TTN):c.98623C>T (p.Gln32875Ter)
|
rs1693309648
|
|
|
NM_001267550.2(TTN):c.98625_98634del (p.Phe32876fs)
|
rs2154139897
|
|
|
NM_001267550.2(TTN):c.98627_98628del (p.Phe32876fs)
|
|
|
|
NM_001267550.2(TTN):c.98637del (p.Ser32879fs)
|
|
|
|
NM_001267550.2(TTN):c.98660del (p.Pro32887fs)
|
rs1553509300
|
|
|
NM_001267550.2(TTN):c.98666del (p.Thr32889fs)
|
|
|
|
NM_001267550.2(TTN):c.98709del (p.Pro32904fs)
|
|
|
|
NM_001267550.2(TTN):c.98722_98738del (p.Asp32908fs)
|
|
|
|
NM_001267550.2(TTN):c.98774del (p.Gly32925fs)
|
rs2154139656
|
|
|
NM_001267550.2(TTN):c.98803G>T (p.Glu32935Ter)
|
rs1407053984
|
|
|
NM_001267550.2(TTN):c.98810_98811del (p.Lys32937fs)
|
|
|
|
NM_001267550.2(TTN):c.98862dup (p.Thr32955fs)
|
|
|
|
NM_001267550.2(TTN):c.98923C>T (p.Gln32975Ter)
|
|
|
|
NM_001267550.2(TTN):c.98989+1G>A
|
rs112240298
|
|
|
NM_001267550.2(TTN):c.98989+2T>C
|
|
|
|
NM_001267550.2(TTN):c.98990-2A>C
|
rs2154139399
|
|
|
NM_001267550.2(TTN):c.98992A>T (p.Lys32998Ter)
|
|
|
|
NM_001267550.2(TTN):c.99033del (p.Asp33013fs)
|
|
|
|
NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter)
|
rs771511344
|
|
|
NM_001267550.2(TTN):c.99038_99041dup (p.Ser33014delinsArgTer)
|
|
|
|
NM_001267550.2(TTN):c.99041del (p.Ser33014fs)
|
rs2154139357
|
|
|
NM_001267550.2(TTN):c.99043_99044del (p.Val33015fs)
|
|
|
|
NM_001267550.2(TTN):c.99063del (p.Lys33021fs)
|
rs1445687820
|
|
|
NM_001267550.2(TTN):c.99085G>T (p.Glu33029Ter)
|
|
|
|
NM_001267550.2(TTN):c.99113_99114del (p.Arg33038fs)
|
rs2154139316
|
|
|
NM_001267550.2(TTN):c.99135G>A (p.Trp33045Ter)
|
rs2154139293
|
|
|
NM_001267550.2(TTN):c.99156dup (p.Ile33053fs)
|
rs2154139263
|
|
|
NM_001267550.2(TTN):c.99181G>T (p.Gly33061Ter)
|
|
|
|
NM_001267550.2(TTN):c.99256A>T (p.Arg33086Ter)
|
|
|
|
NM_001267550.2(TTN):c.99289+1G>C
|
rs2154139165
|
|
|
NM_001267550.2(TTN):c.99315del (p.Glu33106fs)
|
|
|
|
NM_001267550.2(TTN):c.99323_99326del (p.Lys33108fs)
|
|
|
|
NM_001267550.2(TTN):c.9932_9935del (p.Thr3310_Cys3311insTer)
|
rs2090019809
|
|
|
NM_001267550.2(TTN):c.99362C>G (p.Ser33121Ter)
|
|
|
|
NM_001267550.2(TTN):c.99366C>A (p.Cys33122Ter)
|
|
|
|
NM_001267550.2(TTN):c.99405_99406del (p.Tyr33135_Arg33136delinsTer)
|
|
|
|
NM_001267550.2(TTN):c.99463dup (p.Thr33155fs)
|
|
|
|
NM_001267550.2(TTN):c.99469_99470del (p.Thr33157fs)
|
|
|
|
NM_001267550.2(TTN):c.99474del (p.Thr33159fs)
|
|
|
|
NM_001267550.2(TTN):c.99487G>T (p.Glu33163Ter)
|
|
|
|
NM_001267550.2(TTN):c.99493C>T (p.Gln33165Ter)
|
|
|
|
NM_001267550.2(TTN):c.99498del (p.Asp33167fs)
|
|
|
|
NM_001267550.2(TTN):c.99578dup (p.Pro33194fs)
|
|
|
|
NM_001267550.2(TTN):c.99583C>T (p.Gln33195Ter)
|
|
|
|
NM_001267550.2(TTN):c.99588_99595del (p.Phe33196fs)
|
rs1553504889
|
|
|
NM_001267550.2(TTN):c.99610G>T (p.Glu33204Ter)
|
rs1490008675
|
|
|
NM_001267550.2(TTN):c.99613A>T (p.Lys33205Ter)
|
|
|
|
NM_001267550.2(TTN):c.99710dup (p.Leu33237fs)
|
|
|
|
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter)
|
rs794727539
|
|
|
NM_001267550.2(TTN):c.99783dup (p.Lys33262Ter)
|
rs1575324979
|
|
|
NM_001267550.2(TTN):c.99786_99790del (p.Thr33263fs)
|
rs2154138232
|
|
|
NM_001267550.2(TTN):c.99797_99800dup (p.Tyr33268fs)
|
|
|
|
NM_001267550.2(TTN):c.99853_99854insGGGAAATACAAATTCCAGCTCAGCAATGTTTTTGGAACAGTTGATGCCATCCTTGATG (p.Val33285delinsGlyGluIleGlnIleProAlaGlnGlnCysPheTrpAsnSerTer)
|
|
|
|
NM_001267550.2(TTN):c.99862C>T (p.Gln33288Ter)
|
|
|
|
NM_001267550.2(TTN):c.99865+1G>T
|
|
|
|
NM_001267550.2(TTN):c.99874del (p.Asp33292fs)
|
|
|
|
NM_001267550.2(TTN):c.9988+2T>C
|
rs1298389127
|
|
|
NM_001267550.2(TTN):c.99906_99916del (p.Leu33304fs)
|
|
|
|
NM_001267550.2(TTN):c.99909del (p.Leu33303_Leu33304insTer)
|
|
|
|
NM_001267550.2(TTN):c.99935G>A (p.Trp33312Ter)
|
rs2154138051
|
|
|
NM_001267550.2(TTN):c.99936G>A (p.Trp33312Ter)
|
|
|
|
NM_001270.4(CHD1):c.1978A>G (p.Ile660Val)
|
|
|
|
NM_001270.4(CHD1):c.2569-11A>G
|
|
|
|
NM_001270.4(CHD1):c.3133G>A (p.Glu1045Lys)
|
|
|
|
NM_001270.4(CHD1):c.490del (p.Ser164fs)
|
|
|
|
NM_001270.4(CHD1):c.643dup (p.Ser215fs)
|
|
|
|
NM_001282531.3(ADNP):c.1046_1047del (p.Leu349fs)
|
rs1981065982
|
|
|
NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter)
|
rs886056775
|
|
|
NM_001282531.3(ADNP):c.1222_1223del (p.Lys408fs)
|
rs1555810376
|
|
|
NM_001282531.3(ADNP):c.1265dup (p.Gln423fs)
|
rs1600932676
|
|
|
NM_001282531.3(ADNP):c.1310dup (p.Gly438fs)
|
rs2122753883
|
|
|
NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly)
|
rs2122752568
|
|
|
NM_001282531.3(ADNP):c.1717del (p.Asp573fs)
|
rs1555810193
|
|
|
NM_001282531.3(ADNP):c.2000G>T (p.Cys667Phe)
|
|
|
|
NM_001282531.3(ADNP):c.201G>C (p.Gln67His)
|
rs1555812161
|
|
|
NM_001282531.3(ADNP):c.2089dup (p.Gln697fs)
|
rs2122747616
|
|
|
NM_001282531.3(ADNP):c.2129dup (p.Ser711fs)
|
rs1980913274
|
|
|
NM_001282531.3(ADNP):c.2132del (p.Ser711fs)
|
|
|
|
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)
|
rs1135401808
|
|
|
NM_001282531.3(ADNP):c.2157del (p.Thr718_Tyr719insTer)
|
rs1600930164
|
|
|
NM_001282531.3(ADNP):c.2163_2164dup (p.Met722fs)
|
rs2122746369
|
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
|
NM_001282531.3(ADNP):c.2193_2197delinsA (p.Leu732fs)
|
|
|
|
NM_001282531.3(ADNP):c.2213dup (p.Pro739fs)
|
|
|
|
NM_001282531.3(ADNP):c.2278G>T (p.Glu760Ter)
|
rs1221864735
|
|
|
NM_001282531.3(ADNP):c.2287del (p.Ser763fs)
|
rs1555809919
|
|
|
NM_001282531.3(ADNP):c.2330_2333del (p.Lys777fs)
|
|
|
|
NM_001282531.3(ADNP):c.2468T>G (p.Leu823Trp)
|
|
|
|
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs)
|
rs587777522
|
|
|
NM_001282531.3(ADNP):c.2666del (p.Ser889fs)
|
|
|
|
NM_001282531.3(ADNP):c.2712dup (p.Asn905Ter)
|
rs2122740067
|
|
|
NM_001282531.3(ADNP):c.2938C>T (p.Gln980Ter)
|
rs1980763449
|
|
|
NM_001282531.3(ADNP):c.3047dup (p.Ala1017fs)
|
|
|
|
NM_001282531.3(ADNP):c.321del (p.Asn108fs)
|
rs2122764752
|
|
|
NM_001282531.3(ADNP):c.326G>A (p.Cys109Tyr)
|
|
|
|
NM_001282531.3(ADNP):c.443_446del (p.Lys148fs)
|
|
|
|
NM_001282531.3(ADNP):c.64dup (p.Ile22fs)
|
rs1982229334
|
|
|
NM_001282531.3(ADNP):c.709del (p.Val237fs)
|
rs1981116316
|
|
|
NM_001282531.3(ADNP):c.833dup (p.Lys279fs)
|
|
|
|
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His)
|
rs867543866
|
|
|
NM_001282534.2(KCNK9):c.477G>A (p.Met159Ile)
|
|
|
|
NM_001282534.2(KCNK9):c.710C>A (p.Ala237Asp)
|
rs1814677892
|
|
|
NM_001286445.3(RIPOR2):c.1633_1644del (p.Gln545_Lys548del)
|
rs760676508
|
|
|
NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys)
|
rs2142378398
|
|
|
NM_001287.6(CLCN7):c.1448-2A>G
|
|
|
|
NM_001287.6(CLCN7):c.1841T>G (p.Leu614Arg)
|
rs1064794323
|
|
|
NM_001287.6(CLCN7):c.1883+1G>A
|
|
|
|
NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys)
|
rs387907576
|
|
|
NM_001287.6(CLCN7):c.994A>G (p.Met332Val)
|
rs2142378539
|
|
|
NM_001288705.3(CSF1R):c.2326C>T (p.His776Tyr)
|
rs1561905293
|
|
|
NM_001288705.3(CSF1R):c.2671G>C (p.Ala891Pro)
|
rs1561901881
|
|
|
NM_001289104.2(PRKCSH):c.1127-2A>C
|
|
|
|
NM_001289104.2(PRKCSH):c.1462-1G>C
|
|
|
|
NM_001289104.2(PRKCSH):c.1462-1G>T
|
rs879147040
|
|
|
NM_001289104.2(PRKCSH):c.228C>G (p.His76Gln)
|
rs2144807765
|
|
|
NM_001289104.2(PRKCSH):c.247_248insT (p.Lys83fs)
|
|
|
|
NM_001289104.2(PRKCSH):c.300C>A (p.Cys100Ter)
|
rs756238324
|
|
|
NM_001289104.2(PRKCSH):c.464A>G (p.Lys155Arg)
|
rs2144822186
|
|
|
NM_001289104.2(PRKCSH):c.564_567del (p.Glu189fs)
|
rs749223361
|
|
|
NM_001289104.2(PRKCSH):c.683+1G>A
|
rs2144837651
|
|
|
NM_001289104.2(PRKCSH):c.684-1G>A
|
|
|
|
NM_001289104.2(PRKCSH):c.805_845del (p.Tyr269fs)
|
|
|
|
NM_001289104.2(PRKCSH):c.871_872delinsCCG (p.Ala291fs)
|
|
|
|
NM_001289396.1:c.[3495G>C(;)3917G>A]
|
|
|
|
NM_001292063.2(OTOG):c.3285G>A (p.Trp1095Ter)
|
|
|
|
NM_001292063.2(OTOG):c.7199del (p.Cys2400fs)
|
rs1565127413
|
|
|
NM_001303052.2(MYT1L):c.1516T>C (p.Cys506Arg)
|
rs2052983721
|
|
|
NM_001303052.2(MYT1L):c.1532G>A (p.Cys511Tyr)
|
|
|
|
NM_001303052.2(MYT1L):c.1538G>T (p.Gly513Val)
|
rs2149071963
|
|
|
NM_001303052.2(MYT1L):c.1543G>A (p.Gly515Ser)
|
|
|
|
NM_001303052.2(MYT1L):c.1559T>C (p.Leu520Pro)
|
rs1057519560
|
|
|
NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys)
|
rs2149071722
|
|
|
NM_001303052.2(MYT1L):c.1574G>T (p.Arg525Leu)
|
rs753426087
|
|
|
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg)
|
rs1275489527
|
|
|
NM_001303052.2(MYT1L):c.1618_1618+1delinsC
|
|
|
|
NM_001303052.2(MYT1L):c.1670G>T (p.Gly557Val)
|
|
|
|
NM_001303052.2(MYT1L):c.1672C>T (p.Arg558Cys)
|
rs2052089346
|
|
|
NM_001303052.2(MYT1L):c.1675G>T (p.Gly559Trp)
|
|
|
|
NM_001303052.2(MYT1L):c.1695G>T (p.Arg565Ser)
|
rs1573501865
|
|
|
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln)
|
rs878853045
|
|
|
NM_001303052.2(MYT1L):c.1717G>A (p.Gly573Arg)
|
rs1330054460
|
|
|
NM_001303052.2(MYT1L):c.1718G>A (p.Gly573Glu)
|
rs2051764612
|
|
|
NM_001303052.2(MYT1L):c.1733C>T (p.Ala578Val)
|
rs1573483715
|
|
|
NM_001303052.2(MYT1L):c.2010_2025dup (p.Asp676delinsIleProGlnArgIleTer)
|
|
|
|
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs)
|
rs1253072668
|
|
|
NM_001303052.2(MYT1L):c.2274C>A (p.Cys758Ter)
|
|
|
|
NM_001303052.2(MYT1L):c.2484_2485del (p.Arg829fs)
|
rs2148852029
|
|
|
NM_001303052.2(MYT1L):c.2519_2520+3del
|
|
|
|
NM_001303052.2(MYT1L):c.2838del (p.Glu947fs)
|
|
|
|
NM_001303052.2(MYT1L):c.557dup (p.Asp187fs)
|
rs2149110899
|
|
|
NM_001303052.2(MYT1L):c.682A>G (p.Asn228Asp)
|
rs2053776375
|
|
|
NM_001303052.2:g.(?_1851612)_(1943337_?)del
|
|
|
|
NM_001320.7(CSNK2B):c.72+2T>G
|
rs2151182244
|
|
|
NM_001321075.3(DLG4):c.1000G>T (p.Glu334Ter)
|
|
|
|
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=)
|
rs1227093654
|
|
|
NM_001321075.3(DLG4):c.1084-1G>T
|
rs2142844164
|
|
|
NM_001321075.3(DLG4):c.10_13del (p.Leu4fs)
|
|
|
|
NM_001321075.3(DLG4):c.1186+2T>G
|
|
|
|
NM_001321075.3(DLG4):c.1478+2T>C
|
rs542036630
|
|
|
NM_001321075.3(DLG4):c.1479-2A>G
|
rs2142828286
|
|
|
NM_001321075.3(DLG4):c.1489C>T (p.Arg497Ter)
|
rs1567528092
|
|
|
NM_001321075.3(DLG4):c.1490del (p.Arg497fs)
|
|
|
|
NM_001321075.3(DLG4):c.1543+2T>C
|
rs1597444614
|
|
|
NM_001321075.3(DLG4):c.1592-1G>A
|
rs2142825829
|
|
|
NM_001321075.3(DLG4):c.1607C>T (p.Pro536Leu)
|
rs2142825745
|
|
|
NM_001321075.3(DLG4):c.1690C>T (p.Pro564Ser)
|
|
|
|
NM_001321075.3(DLG4):c.1693+1G>A
|
rs2142825211
|
|
|
NM_001321075.3(DLG4):c.1832C>T (p.Thr611Ile)
|
rs2142821651
|
|
|
NM_001321075.3(DLG4):c.1866+2T>C
|
rs2142821543
|
|
|
NM_001321075.3(DLG4):c.1878C>A (p.Cys626Ter)
|
rs1451196379
|
|
|
NM_001321075.3(DLG4):c.1947del (p.Phe649fs)
|
|
|
|
NM_001321075.3(DLG4):c.210+1G>T
|
rs2070315709
|
|
|
NM_001321075.3(DLG4):c.210+2del
|
|
|
|
NM_001321075.3(DLG4):c.211-2A>G
|
rs2142886707
|
|
|
NM_001321075.3(DLG4):c.505+1G>T
|
|
|
|
NM_001321075.3(DLG4):c.506-1G>T
|
|
|
|
NM_001321075.3(DLG4):c.506-2A>G
|
|
|
|
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val)
|
rs2142884433
|
|
|
NM_001321075.3(DLG4):c.557A>T (p.Asp186Val)
|
rs2142884288
|
|
|
NM_001321075.3(DLG4):c.642G>A (p.Ala214=)
|
rs2142883774
|
|
|
NM_001321075.3(DLG4):c.643-1G>T
|
|
|
|
NM_001321075.3(DLG4):c.773del (p.Pro258fs)
|
|
|
|
NM_001321075.3(DLG4):c.787+2T>C
|
rs2142881946
|
|
|
NM_001330288.2(SMARCC2):c.2549-2A>G
|
|
|
|
NM_001330311.2(DVL1):c.1571_1583del (p.Pro524fs)
|
rs1553173420
|
|
|
NM_001330311.2(DVL1):c.1682_1683dup (p.Ser562fs)
|
rs1643642110
|
|
|
NM_001330311.2(DVL1):c.1683_1698del (p.Ser562fs)
|
rs1553173368
|
|
|
NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs)
|
rs1553173372
|
|
|
NM_001330311.2(DVL1):c.1698del (p.Ser567fs)
|
rs1553173367
|
|
|
NM_001330311.2(DVL1):c.1715-1G>A
|
rs2100704859
|
|
|
NM_001330311.2(DVL1):c.363-1G>C
|
|
|
|
NM_001347721.2(DYRK1A):c.1000_1001del (p.Asp334fs)
|
rs2148619635
|
|
|
NM_001347721.2(DYRK1A):c.1010C>T (p.Ser337Phe)
|
rs1555985649
|
|
|
NM_001347721.2(DYRK1A):c.1072-1G>A
|
|
|
|
NM_001347721.2(DYRK1A):c.1072-2A>T
|
rs2053260627
|
|
|
NM_001347721.2(DYRK1A):c.1072del
|
|
|
|
NM_001347721.2(DYRK1A):c.1212_1213insTAA (p.Glu405Ter)
|
|
|
|
NM_001347721.2(DYRK1A):c.1213-2A>G
|
rs1601315812
|
|
|
NM_001347721.2(DYRK1A):c.1224dup (p.Pro409fs)
|
|
|
|
NM_001347721.2(DYRK1A):c.1235G>A (p.Arg412His)
|
rs202011970
|
|
|
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln)
|
rs797045041
|
|
|
NM_001347721.2(DYRK1A):c.1378del (p.Gln460fs)
|
rs1555990958
|
|
|
NM_001347721.2(DYRK1A):c.1520-1G>C
|
|
|
|
NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn)
|
rs724159955
|
|
|
NM_001347721.2(DYRK1A):c.1837C>T (p.Gln613Ter)
|
|
|
|
NM_001347721.2(DYRK1A):c.196_200del (p.Pro65_Leu66insTer)
|
|
|
|
NM_001347721.2(DYRK1A):c.208dup (p.Arg70fs)
|
|
|
|
NM_001347721.2(DYRK1A):c.301-2A>C
|
|
|
|
NM_001347721.2(DYRK1A):c.471del (p.Gly159fs)
|
rs2052612564
|
|
|
NM_001347721.2(DYRK1A):c.475G>C (p.Gly159Arg)
|
|
|
|
NM_001347721.2(DYRK1A):c.476G>T (p.Gly159Val)
|
rs1064796406
|
|
|
NM_001347721.2(DYRK1A):c.490-1G>C
|
|
|
|
NM_001347721.2(DYRK1A):c.506A>G (p.Asp169Gly)
|
rs1131691866
|
|
|
NM_001347721.2(DYRK1A):c.536A>T (p.Lys179Ile)
|
rs797044524
|
|
|
NM_001347721.2(DYRK1A):c.536_538del (p.Lys179del)
|
rs2052872878
|
|
|
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs)
|
rs1064796367
|
|
|
NM_001347721.2(DYRK1A):c.593T>C (p.Leu198Pro)
|
|
|
|
NM_001347721.2(DYRK1A):c.637+2_637+13del
|
|
|
|
NM_001347721.2(DYRK1A):c.638-1G>T
|
rs2148612254
|
|
|
NM_001347721.2(DYRK1A):c.638-6T>C
|
rs2148612226
|
|
|
NM_001347721.2(DYRK1A):c.638-9_638-5del
|
|
|
|
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter)
|
rs780441716
|
|
|
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg)
|
rs797044525
|
|
|
NM_001347721.2(DYRK1A):c.764A>C (p.Lys255Thr)
|
|
|
|
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg)
|
rs2148612918
|
|
|
NM_001347721.2(DYRK1A):c.830G>A (p.Cys277Tyr)
|
rs2148612925
|
|
|
NM_001347721.2(DYRK1A):c.840del (p.Lys280fs)
|
|
|
|
NM_001347721.2(DYRK1A):c.856C>T (p.Leu286Phe)
|
rs797044526
|
|
|
NM_001347721.2(DYRK1A):c.868A>G (p.Lys290Glu)
|
|
|
|
NM_001347721.2(DYRK1A):c.895T>G (p.Phe299Val)
|
rs797045540
|
|
|
NM_001347721.2(DYRK1A):c.896T>C (p.Phe299Ser)
|
rs1569376809
|
|
|
NM_001347721.2(DYRK1A):c.924+1G>A
|
rs2148613196
|
|
|
NM_001347721.2(DYRK1A):c.924+4_924+7del
|
rs1555984461
|
|
|
NM_001347721.2(DYRK1A):c.925-1G>C
|
rs2148619382
|
|
|
NM_001347721.2(DYRK1A):c.931_932del (p.Gln311fs)
|
rs2148619406
|
|
|
NM_001347721.2(DYRK1A):c.945T>A (p.Ser315Arg)
|
rs1569380375
|
|
|
NM_001347721.2(DYRK1A):c.948_949insGG (p.Phe317fs)
|
|
|
|
NM_001347721.2(DYRK1A):c.953A>G (p.Tyr318Cys)
|
rs1555985554
|
|
|
NM_001347721.2(DYRK1A):c.957_960del (p.Ser320fs)
|
|
|
|
NM_001348323.3(TRIP12):c.2625_2629del (p.Asn876fs)
|
|
|
|
NM_001348323.3(TRIP12):c.2679_2685del (p.Asp893fs)
|
|
|
|
NM_001348323.3(TRIP12):c.2764_2767dup (p.Ser923Ter)
|
|
|
|
NM_001348323.3(TRIP12):c.3808del (p.Ser1270fs)
|
rs2042881907
|
|
|
NM_001348323.3(TRIP12):c.4642CTT[1] (p.Leu1550del)
|
|
|
|
NM_001348323.3(TRIP12):c.4838+2T>G
|
rs2040714903
|
|
|
NM_001348323.3(TRIP12):c.4864C>T (p.Arg1622Trp)
|
rs1320218400
|
|
|
NM_001348323.3(TRIP12):c.4904G>A (p.Arg1635Gln)
|
rs2154255374
|
|
|
NM_001348323.3(TRIP12):c.4986T>A (p.Asp1662Glu)
|
rs1468657712
|
|
|
NM_001348323.3(TRIP12):c.4996-12_4996-2del
|
|
|
|
NM_001348323.3(TRIP12):c.5030C>T (p.Ala1677Val)
|
|
|
|
NM_001348323.3(TRIP12):c.5114C>T (p.Pro1705Leu)
|
|
|
|
NM_001348323.3(TRIP12):c.5259_5276delinsAAATGATATG (p.Leu1754fs)
|
rs2154245501
|
|
|
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
|
|
|
|
NM_001348323.3(TRIP12):c.6096_6109dup (p.Tyr2037Ter)
|
|
|
|
NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu)
|
rs2032214426
|
|
|
NM_001349338.3(FOXP1):c.1078_1079del (p.Glu360fs)
|
|
|
|
NM_001349338.3(FOXP1):c.1103dup (p.His368fs)
|
rs2040036225
|
|
|
NM_001349338.3(FOXP1):c.1131del (p.Ala378fs)
|
|
|
|
NM_001349338.3(FOXP1):c.1146+1G>C
|
rs1559650552
|
|
|
NM_001349338.3(FOXP1):c.1147-2A>G
|
rs1559621862
|
|
|
NM_001349338.3(FOXP1):c.1201C>T (p.Gln401Ter)
|
rs1234028937
|
|
|
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs)
|
rs1064793130
|
|
|
NM_001349338.3(FOXP1):c.1267_1268del (p.Val423fs)
|
rs786200948
|
|
|
NM_001349338.3(FOXP1):c.1349-1G>A
|
|
|
|
NM_001349338.3(FOXP1):c.1397C>T (p.Pro466Leu)
|
|
|
|
NM_001349338.3(FOXP1):c.1406C>T (p.Thr469Ile)
|
rs2037853932
|
|
|
NM_001349338.3(FOXP1):c.1427A>C (p.Gln476Pro)
|
rs2107310071
|
|
|
NM_001349338.3(FOXP1):c.1429-13_1429-3del
|
rs1559617016
|
|
|
NM_001349338.3(FOXP1):c.1429-1G>A
|
|
|
|
NM_001349338.3(FOXP1):c.1433T>G (p.Ile478Ser)
|
|
|
|
NM_001349338.3(FOXP1):c.1451del (p.Lys484fs)
|
|
|
|
NM_001349338.3(FOXP1):c.1458_1461dup (p.Leu488fs)
|
rs2037704254
|
|
|
NM_001349338.3(FOXP1):c.1475A>G (p.Tyr492Cys)
|
rs2037702385
|
|
|
NM_001349338.3(FOXP1):c.1478_1483dup (p.Trp494_Phe495insTyrTrp)
|
|
|
|
NM_001349338.3(FOXP1):c.1490G>C (p.Arg497Pro)
|
|
|
|
NM_001349338.3(FOXP1):c.1506C>G (p.Phe502Leu)
|
rs1057524152
|
|
|
NM_001349338.3(FOXP1):c.1534dup (p.Ala512fs)
|
rs2107201851
|
|
|
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)
|
rs869025203
|
|
|
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)
|
rs797045586
|
|
|
NM_001349338.3(FOXP1):c.1541G>C (p.Arg514Pro)
|
rs797045586
|
|
|
NM_001349338.3(FOXP1):c.1544A>G (p.His515Arg)
|
rs2036511353
|
|
|
NM_001349338.3(FOXP1):c.1547del (p.Asn516fs)
|
|
|
|
NM_001349338.3(FOXP1):c.1550T>G (p.Leu517Arg)
|
rs1575757812
|
|
|
NM_001349338.3(FOXP1):c.1552dup (p.Ser518fs)
|
|
|
|
NM_001349338.3(FOXP1):c.1567T>C (p.Phe523Leu)
|
|
|
|
NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser)
|
rs1559602593
|
|
|
NM_001349338.3(FOXP1):c.1595C>T (p.Ala532Val)
|
|
|
|
NM_001349338.3(FOXP1):c.1601G>A (p.Trp534Ter)
|
|
|
|
NM_001349338.3(FOXP1):c.1652+5G>A
|
rs794727216
|
|
|
NM_001349338.3(FOXP1):c.1722+5G>C
|
|
|
|
NM_001349338.3(FOXP1):c.1729_1730delinsTGAA (p.Met577Ter)
|
|
|
|
NM_001349338.3(FOXP1):c.427del (p.Leu143fs)
|
|
|
|
NM_001349338.3(FOXP1):c.484C>T (p.Gln162Ter)
|
rs2107113697
|
|
|
NM_001349338.3(FOXP1):c.696_705del (p.Leu231_Trp232insTer)
|
|
|
|
NM_001349338.3(FOXP1):c.869G>C (p.Ser290Thr)
|
rs2106869182
|
|
|
NM_001349338.3(FOXP1):c.910G>T (p.Gly304Ter)
|
|
|
|
NM_001354604.2(MITF):c.1001T>G (p.Leu334Arg)
|
|
|
|
NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter)
|
rs1553704841
|
|
|
NM_001354604.2(MITF):c.1031+1G>A
|
rs1559749017
|
|
|
NM_001354604.2(MITF):c.1031+1G>C
|
|
|
|
NM_001354604.2(MITF):c.1031+4A>C
|
rs1553704850
|
|
|
NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly)
|
rs1559751245
|
|
|
NM_001354604.2(MITF):c.1051G>A (p.Gly351Arg)
|
|
|
|
NM_001354604.2(MITF):c.1052G>A (p.Gly351Glu)
|
rs2107536936
|
|
|
NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr)
|
rs2107537096
|
|
|
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter)
|
rs1057517966
|
|
|
NM_001354604.2(MITF):c.1180-2A>G
|
rs1064797294
|
|
|
NM_001354604.2(MITF):c.1195del (p.Ala399fs)
|
|
|
|
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter)
|
rs1464157509
|
|
|
NM_001354604.2(MITF):c.1230G>A (p.Thr410=)
|
rs1057521096
|
|
|
NM_001354604.2(MITF):c.1274_1295dup (p.Ser432delinsArgThrArgSerTer)
|
rs2107552061
|
|
|
NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter)
|
rs2107478777
|
|
|
NM_001354604.2(MITF):c.393dup (p.Gln132fs)
|
|
|
|
NM_001354604.2(MITF):c.648dup (p.Arg217fs)
|
|
|
|
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter)
|
rs1553702006
|
|
|
NM_001354604.2(MITF):c.660_666+6del
|
|
|
|
NM_001354604.2(MITF):c.666+1G>A
|
rs1246772999
|
|
|
NM_001354604.2(MITF):c.730_731delinsCC (p.Leu244Pro)
|
rs1553702406
|
|
|
NM_001354604.2(MITF):c.762+1G>A
|
|
|
|
NM_001354604.2(MITF):c.794A>G (p.Tyr265Cys)
|
rs1057518765
|
|
|
NM_001354604.2(MITF):c.802_803inv (p.Gln268Ter)
|
|
|
|
NM_001354604.2(MITF):c.878_879dup (p.Ala294fs)
|
|
|
|
NM_001354604.2(MITF):c.880+1G>A
|
|
|
|
NM_001354604.2(MITF):c.880+2T>C
|
|
|
|
NM_001354604.2(MITF):c.899_900del (p.Glu300fs)
|
rs2107519404
|
|
|
NM_001354604.2(MITF):c.925G>A (p.Glu309Lys)
|
rs1553704086
|
|
|
NM_001354604.2(MITF):c.928A>G (p.Arg310Gly)
|
rs2066264802
|
|
|
NM_001354604.2(MITF):c.950A>T (p.Asn317Ile)
|
|
|
|
NM_001354604.2(MITF):c.951C>A (p.Asn317Lys)
|
|
|
|
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)
|
rs1553704097
|
|
|
NM_001354604.2(MITF):c.953_955+3del
|
|
|
|
NM_001354604.2(MITF):c.955+1G>T
|
rs2107519634
|
|
|
NM_001354604.2(MITF):c.956-2A>G
|
rs2066399731
|
|
|
NM_001354604.2(MITF):c.961C>G (p.Arg321Gly)
|
|
|
|
NM_001354604.2(MITF):c.962G>T (p.Arg321Leu)
|
|
|
|
NM_001354604.2(MITF):c.967A>G (p.Arg323Gly)
|
|
|
|
NM_001354604.2(MITF):c.984T>A (p.Asn328Lys)
|
|
|
|
NM_001354629.2(MLH1):c.208-3445_208-3433del
|
rs1057517543
|
|
|
NM_001366521.1(ATP2B1):c.1130-2A>C
|
|
|
|
NM_001366521.1(ATP2B1):c.1376A>G (p.His459Arg)
|
rs1879993052
|
|
|
NM_001366521.1(ATP2B1):c.1907_1908del (p.Val636fs)
|
rs2136050284
|
|
|
NM_001366521.1(ATP2B1):c.2509_2512del (p.Ser837fs)
|
|
|
|
NM_001366521.1(ATP2B1):c.2677del (p.Leu892_Ile893insTer)
|
|
|
|
NM_001366521.1(ATP2B1):c.2959G>T (p.Glu987Ter)
|
|
|
|
NM_001366521.1(ATP2B1):c.3215C>T (p.Ala1072Val)
|
|
|
|
NM_001366521.1(ATP2B1):c.406+1G>A
|
|
|
|
NM_001366521.1(ATP2B1):c.458G>A (p.Trp153Ter)
|
rs2136193860
|
|
|
NM_001367534.1(CAMK2G):c.1236T>A (p.Asp412Glu)
|
|
|
|
NM_001367534.1(CAMK2G):c.676A>G (p.Ile226Val)
|
|
|
|
NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro)
|
rs397514627
|
|
|
NM_001367534.1(CAMK2G):c.969dup (p.Ala324fs)
|
rs2134277165
|
|
|
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)
|
rs121908333
|
|
|
NM_001370100.5(ZMYND11):c.1028G>A (p.Trp343Ter)
|
rs2131925813
|
|
|
NM_001370100.5(ZMYND11):c.1159-2A>G
|
rs2131938879
|
|
|
NM_001370100.5(ZMYND11):c.1255A>C (p.Ser419Arg)
|
rs1952619236
|
|
|
NM_001370100.5(ZMYND11):c.1366C>T (p.Gln456Ter)
|
|
|
|
NM_001370100.5(ZMYND11):c.1390_1391insCC (p.Gln464fs)
|
|
|
|
NM_001370100.5(ZMYND11):c.1581dup (p.Cys528fs)
|
rs2131978117
|
|
|
NM_001370100.5(ZMYND11):c.1685G>C (p.Trp562Ser)
|
rs2131979217
|
|
|
NM_001370100.5(ZMYND11):c.1724G>A (p.Cys575Tyr)
|
rs2132045760
|
|
|
NM_001370100.5(ZMYND11):c.1793G>C (p.Cys598Ser)
|
rs1953701770
|
|
|
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp)
|
rs797044854
|
|
|
NM_001370100.5(ZMYND11):c.4G>A (p.Ala2Thr)
|
|
|
|
NM_001370100.5(ZMYND11):c.737_738del (p.Lys246fs)
|
rs1554789246
|
|
|
NM_001370100.5(ZMYND11):c.788_791del (p.Tyr263fs)
|
|
|
|
NM_001370100.5(ZMYND11):c.859A>T (p.Lys287Ter)
|
rs2131809743
|
|
|
NM_001370100.5(ZMYND11):c.926G>A (p.Arg309His)
|
rs2131810674
|
|
|
NM_001370100.5(ZMYND11):c.950+2T>G
|
rs1951082266
|
|
|
NM_001370259.2(MEN1):c.1009G>C (p.Ala337Pro)
|
rs2071312
|
|
|
NM_001370259.2(MEN1):c.1013dup (p.Gln339fs)
|
rs386134245
|
|
|
NM_001370259.2(MEN1):c.1024G>C (p.Ala342Pro)
|
rs776561706
|
|
|
NM_001370259.2(MEN1):c.1043T>A (p.Ile348Asn)
|
|
|
|
NM_001370259.2(MEN1):c.1049+2T>C
|
rs1555164946
|
|
|
NM_001370259.2(MEN1):c.1049+5G>C
|
|
|
|
NM_001370259.2(MEN1):c.1049A>T (p.Asp350Val)
|
|
|
|
NM_001370259.2(MEN1):c.1063C>T (p.Arg355Trp)
|
rs863224807
|
|
|
NM_001370259.2(MEN1):c.1063del (p.Arg355fs)
|
rs386134246
|
|
|
NM_001370259.2(MEN1):c.1102del (p.Ala368fs)
|
rs2136110242
|
|
|
NM_001370259.2(MEN1):c.1117C>T (p.Pro373Ser)
|
rs794728627
|
|
|
NM_001370259.2(MEN1):c.113C>A (p.Ser38Tyr)
|
|
|
|
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)
|
rs794728616
|
|
|
NM_001370259.2(MEN1):c.1169dup (p.Glu392fs)
|
|
|
|
NM_001370259.2(MEN1):c.1174dup (p.Glu392fs)
|
rs386134247
|
|
|
NM_001370259.2(MEN1):c.1185+1G>A
|
rs1941661315
|
|
|
NM_001370259.2(MEN1):c.1230del (p.Phe410fs)
|
|
|
|
NM_001370259.2(MEN1):c.1231G>C (p.Ala411Pro)
|
|
|
|
NM_001370259.2(MEN1):c.1232C>T (p.Ala411Val)
|
|
|
|
NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs)
|
rs1114167542
|
|
|
NM_001370259.2(MEN1):c.1256G>T (p.Gly419Val)
|
rs1941615895
|
|
|
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)
|
rs386134249
|
|
|
NM_001370259.2(MEN1):c.1270dup (p.Glu424fs)
|
|
|
|
NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg)
|
rs1114167528
|
|
|
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)
|
rs104894259
|
|
|
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg)
|
rs104894259
|
|
|
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)
|
rs398124435
|
|
|
NM_001370259.2(MEN1):c.1311dup (p.Thr438fs)
|
rs1555164184
|
|
|
NM_001370259.2(MEN1):c.1328C>A (p.Ser443Tyr)
|
rs1060499981
|
|
|
NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser)
|
rs1941604532
|
|
|
NM_001370259.2(MEN1):c.134A>T (p.Glu45Val)
|
|
|
|
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His)
|
rs1592636161
|
|
|
NM_001370259.2(MEN1):c.1354C>G (p.Arg452Gly)
|
|
|
|
NM_001370259.2(MEN1):c.1355G>C (p.Arg452Pro)
|
rs775922507
|
|
|
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)
|
rs778670301
|
|
|
NM_001370259.2(MEN1):c.1364T>A (p.Val455Glu)
|
rs878855189
|
|
|
NM_001370259.2(MEN1):c.137A>C (p.His46Pro)
|
rs2136192730
|
|
|
NM_001370259.2(MEN1):c.137A>G (p.His46Arg)
|
|
|
|
NM_001370259.2(MEN1):c.137A>T (p.His46Leu)
|
|
|
|
NM_001370259.2(MEN1):c.1397_1410del (p.Glu466fs)
|
|
|
|
NM_001370259.2(MEN1):c.1417G>T (p.Glu473Ter)
|
|
|
|
NM_001370259.2(MEN1):c.1471G>T (p.Glu491Ter)
|
|
|
|
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs)
|
rs761695866
|
|
|
NM_001370259.2(MEN1):c.154C>G (p.Arg52Gly)
|
rs1555166664
|
|
|
NM_001370259.2(MEN1):c.1564dup (p.Val522fs)
|
rs1941522995
|
|
|
NM_001370259.2(MEN1):c.1663A>G (p.Ser555Gly)
|
|
|
|
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)
|
rs863224527
|
|
|
NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs)
|
rs1114167510
|
|
|
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del)
|
rs794728661
|
|
|
NM_001370259.2(MEN1):c.1673T>C (p.Met558Thr)
|
|
|
|
NM_001370259.2(MEN1):c.1732C>T (p.Gln578Ter)
|
|
|
|
NM_001370259.2(MEN1):c.1739del (p.Thr580fs)
|
rs864622617
|
|
|
NM_001370259.2(MEN1):c.1756C>T (p.Gln586Ter)
|
|
|
|
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)
|
rs386134250
|
|
|
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)
|
rs1555166567
|
|
|
NM_001370259.2(MEN1):c.252dup (p.Ile85fs)
|
rs386134253
|
|
|
NM_001370259.2(MEN1):c.253dup (p.Ile85fs)
|
|
|
|
NM_001370259.2(MEN1):c.274del (p.Arg92fs)
|
rs2136186754
|
|
|
NM_001370259.2(MEN1):c.356A>T (p.Lys119Met)
|
|
|
|
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
|
|
|
|
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)
|
rs786204242
|
|
|
NM_001370259.2(MEN1):c.416A>C (p.His139Pro)
|
|
|
|
NM_001370259.2(MEN1):c.416A>G (p.His139Arg)
|
rs1114167515
|
|
|
NM_001370259.2(MEN1):c.417C>A (p.His139Gln)
|
rs386134254
|
|
|
NM_001370259.2(MEN1):c.417C>G (p.His139Gln)
|
rs386134254
|
|
|
NM_001370259.2(MEN1):c.422A>G (p.Gln141Arg)
|
rs758846538
|
|
|
NM_001370259.2(MEN1):c.428T>A (p.Leu143His)
|
|
|
|
NM_001370259.2(MEN1):c.428T>G (p.Leu143Arg)
|
|
|
|
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val)
|
rs1114167543
|
|
|
NM_001370259.2(MEN1):c.445+1G>A
|
|
|
|
NM_001370259.2(MEN1):c.445+1G>T
|
|
|
|
NM_001370259.2(MEN1):c.458A>C (p.Asp153Ala)
|
rs1565648789
|
|
|
NM_001370259.2(MEN1):c.465_466insAATT (p.Gly156fs)
|
rs386134255
|
|
|
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys)
|
rs1085307471
|
|
|
NM_001370259.2(MEN1):c.491C>T (p.Ala164Val)
|
rs1565648547
|
|
|
NM_001370259.2(MEN1):c.493T>C (p.Cys165Arg)
|
|
|
|
NM_001370259.2(MEN1):c.494G>A (p.Cys165Tyr)
|
rs1057521111
|
|
|
NM_001370259.2(MEN1):c.498G>C (p.Gln166His)
|
|
|
|
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro)
|
rs386134256
|
|
|
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro)
|
rs376872829
|
|
|
NM_001370259.2(MEN1):c.639C>A (p.Ala213=)
|
rs746067825
|
|
|
NM_001370259.2(MEN1):c.643G>A (p.Val215Met)
|
rs794728621
|
|
|
NM_001370259.2(MEN1):c.644T>A (p.Val215Glu)
|
|
|
|
NM_001370259.2(MEN1):c.649_654+2del
|
rs386134258
|
|
|
NM_001370259.2(MEN1):c.64C>A (p.Leu22Met)
|
|
|
|
NM_001370259.2(MEN1):c.654+3A>G
|
rs1064793168
|
|
|
NM_001370259.2(MEN1):c.655-15_658del
|
rs1592649598
|
|
|
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)
|
rs104894256
|
|
|
NM_001370259.2(MEN1):c.668T>G (p.Leu223Arg)
|
|
|
|
NM_001370259.2(MEN1):c.673G>A (p.Gly225Arg)
|
rs1057521110
|
|
|
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg)
|
rs1592649108
|
|
|
NM_001370259.2(MEN1):c.725C>T (p.Ala242Val)
|
rs2136141530
|
|
|
NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter)
|
rs386134259
|
|
|
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)
|
rs386134259
|
|
|
NM_001370259.2(MEN1):c.762_768dup (p.Leu257fs)
|
rs1555165488
|
|
|
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys)
|
rs104894268
|
|
|
NM_001370259.2(MEN1):c.763G>C (p.Glu255Gln)
|
rs104894268
|
|
|
NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe)
|
rs878855198
|
|
|
NM_001370259.2(MEN1):c.767T>C (p.Leu256Pro)
|
|
|
|
NM_001370259.2(MEN1):c.783+2del
|
|
|
|
NM_001370259.2(MEN1):c.784-1G>A
|
rs1555165377
|
|
|
NM_001370259.2(MEN1):c.784-1G>C
|
rs1555165377
|
|
|
NM_001370259.2(MEN1):c.784-2A>T
|
|
|
|
NM_001370259.2(MEN1):c.784-9G>A
|
rs794728625
|
|
|
NM_001370259.2(MEN1):c.791T>C (p.Leu264Pro)
|
rs1941794175
|
|
|
NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro)
|
rs1592647281
|
|
|
NM_001370259.2(MEN1):c.818T>G (p.Leu273Arg)
|
|
|
|
NM_001370259.2(MEN1):c.824+2T>C
|
|
|
|
NM_001370259.2(MEN1):c.825-1_825del
|
rs2136130282
|
|
|
NM_001370259.2(MEN1):c.830C>A (p.Pro277His)
|
rs1060499973
|
|
|
NM_001370259.2(MEN1):c.833T>G (p.Met278Arg)
|
rs1592646765
|
|
|
NM_001370259.2(MEN1):c.850G>A (p.Ala284Thr)
|
|
|
|
NM_001370259.2(MEN1):c.912+2T>A
|
|
|
|
NM_001370259.2(MEN1):c.912G>T (p.Lys304Asn)
|
rs1592646211
|
|
|
NM_001370259.2(MEN1):c.913-1G>A
|
rs1057518572
|
|
|
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr)
|
rs2136120898
|
|
|
NM_001370259.2(MEN1):c.955dup (p.Tyr319fs)
|
rs386134261
|
|
|
NM_001370259.2(MEN1):c.958C>A (p.Pro320Thr)
|
|
|
|
NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu)
|
rs1114167469
|
|
|
NM_001370259.2(MEN1):c.95C>G (p.Pro32Arg)
|
|
|
|
NM_001370259.2(MEN1):c.970del (p.Leu324fs)
|
rs1114167508
|
|
|
NM_001370259.2(MEN1):c.97G>C (p.Asp33His)
|
|
|
|
NM_001370259.2(MEN1):c.97G>T (p.Asp33Tyr)
|
|
|
|
NM_001370259.2(MEN1):c.983A>C (p.His328Pro)
|
|
|
|
NM_001370259.2(MEN1):c.99C>G (p.Asp33Glu)
|
|
|
|
NM_001371279.1(REEP1):c.248del (p.Gly83fs)
|
rs2104244539
|
|
|
NM_001371279.1(REEP1):c.67T>C (p.Ser23Pro)
|
rs2104394897
|
|
|
NM_001371333.1(DIABLO):c.248_251del (p.Asp83fs)
|
|
|
|
NM_001371333.1(DIABLO):c.381GGA[1] (p.Glu129del)
|
|
|
|
NM_001371333.1(DIABLO):c.718T>C (p.Ter240Arg)
|
|
|
|
NM_001371623.1(TCOF1):c.1019_1022del (p.Glu340fs)
|
|
|
|
NM_001371623.1(TCOF1):c.109-3del
|
rs2150398853
|
|
|
NM_001371623.1(TCOF1):c.1094C>A (p.Ser365Ter)
|
|
|
|
NM_001371623.1(TCOF1):c.1399del (p.Gln467fs)
|
rs2150706662
|
|
|
NM_001371623.1(TCOF1):c.142del (p.Asp48fs)
|
|
|
|
NM_001371623.1(TCOF1):c.158G>A (p.Trp53Ter)
|
|
|
|
NM_001371623.1(TCOF1):c.1602dup (p.Ser535fs)
|
|
|
|
NM_001371623.1(TCOF1):c.1705G>A (p.Glu569Lys)
|
rs764314276
|
|
|
NM_001371623.1(TCOF1):c.1849_1850del (p.Ser617fs)
|
|
|
|
NM_001371623.1(TCOF1):c.1916del (p.Pro639fs)
|
rs2150732608
|
|
|
NM_001371623.1(TCOF1):c.2142+2T>C
|
|
|
|
NM_001371623.1(TCOF1):c.2190_2193dup (p.Lys732fs)
|
|
|
|
NM_001371623.1(TCOF1):c.2388dup (p.Ala797fs)
|
|
|
|
NM_001371623.1(TCOF1):c.2629_2648del (p.Ser877fs)
|
|
|
|
NM_001371623.1(TCOF1):c.2859+1G>A
|
rs760036030
|
|
|
NM_001371623.1(TCOF1):c.304+1G>T
|
|
|
|
NM_001371623.1(TCOF1):c.3046G>A (p.Gly1016Ser)
|
rs1766647259
|
|
|
NM_001371623.1(TCOF1):c.3052del (p.Arg1018fs)
|
|
|
|
NM_001371623.1(TCOF1):c.3099del (p.Ala1035fs)
|
|
|
|
NM_001371623.1(TCOF1):c.3385_3389dup (p.Pro1131fs)
|
|
|
|
NM_001371623.1(TCOF1):c.3388del (p.Leu1130fs)
|
|
|
|
NM_001371623.1(TCOF1):c.3679_3697delinsCTCTGG (p.Asp1227fs)
|
rs2151059839
|
|
|
NM_001371623.1(TCOF1):c.3711del (p.Ala1238fs)
|
rs2151060309
|
|
|
NM_001371623.1(TCOF1):c.3754del (p.Gln1252fs)
|
|
|
|
NM_001371623.1(TCOF1):c.378+1G>A
|
rs1581064385
|
|
|
NM_001371623.1(TCOF1):c.3840_3841del (p.Ala1282fs)
|
|
|
|
NM_001371623.1(TCOF1):c.3856C>T (p.Gln1286Ter)
|
rs2151099050
|
|
|
NM_001371623.1(TCOF1):c.3987_3988del (p.Lys1330fs)
|
rs2151100918
|
|
|
NM_001371623.1(TCOF1):c.4027dup (p.Trp1343fs)
|
rs2151101668
|
|
|
NM_001371623.1(TCOF1):c.4123G>T (p.Glu1375Ter)
|
|
|
|
NM_001371623.1(TCOF1):c.4243A>T (p.Lys1415Ter)
|
|
|
|
NM_001371623.1(TCOF1):c.4360delinsAAAAAGACAAAAAA (p.Glu1454fs)
|
|
|
|
NM_001371623.1(TCOF1):c.4369_4372del (p.Glu1457fs)
|
|
|
|
NM_001371623.1(TCOF1):c.551del (p.Ala184fs)
|
|
|
|
NM_001371623.1(TCOF1):c.583C>T (p.Gln195Ter)
|
|
|
|
NM_001371623.1(TCOF1):c.739del (p.Asp247fs)
|
|
|
|
NM_001371623.1(TCOF1):c.89T>G (p.Val30Gly)
|
rs1758963105
|
|
|
NM_001372066.1(TFAP2A):c.1039T>C (p.Cys347Arg)
|
rs1761890567
|
|
|
NM_001372066.1(TFAP2A):c.1039del (p.Cys347fs)
|
|
|
|
NM_001372066.1(TFAP2A):c.1320A>G (p.Ter440Trp)
|
rs1554110673
|
|
|
NM_001372066.1(TFAP2A):c.15G>A (p.Trp5Ter)
|
rs2113228864
|
|
|
NM_001372066.1(TFAP2A):c.204C>A (p.Tyr68Ter)
|
|
|
|
NM_001372066.1(TFAP2A):c.407_413dup (p.Pro139fs)
|
rs1554112492
|
|
|
NM_001372066.1(TFAP2A):c.486+1G>T
|
|
|
|
NM_001372066.1(TFAP2A):c.639C>G (p.Phe213Leu)
|
|
|
|
NM_001372066.1(TFAP2A):c.687C>G (p.Tyr229Ter)
|
rs2114014460
|
|
|
NM_001372066.1(TFAP2A):c.69_85dup (p.Arg29fs)
|
|
|
|
NM_001372066.1(TFAP2A):c.703G>A (p.Glu235Lys)
|
rs1554111751
|
|
|
NM_001372066.1(TFAP2A):c.712C>T (p.Arg238Trp)
|
rs1554111749
|
|
|
NM_001372066.1(TFAP2A):c.719T>C (p.Leu240Pro)
|
rs1554111734
|
|
|
NM_001372066.1(TFAP2A):c.730G>A (p.Glu244Lys)
|
rs151344526
|
|
|
NM_001372066.1(TFAP2A):c.739A>G (p.Asn247Asp)
|
rs2114014223
|
|
|
NM_001372066.1(TFAP2A):c.755G>A (p.Gly252Asp)
|
rs1554111717
|
|
|
NM_001372066.1(TFAP2A):c.758G>A (p.Gly253Glu)
|
rs151344527
|
|
|
NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp)
|
rs151344528
|
|
|
NM_001372066.1(TFAP2A):c.767G>A (p.Arg256Gln)
|
rs151344530
|
|
|
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly)
|
rs121909574
|
|
|
NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val)
|
rs151344531
|
|
|
NM_001372066.1(TFAP2A):c.781A>G (p.Lys261Glu)
|
|
|
|
NM_001372066.1(TFAP2A):c.889+2dup
|
rs1762047599
|
|
|
NM_001372066.1(TFAP2A):c.895G>C (p.Ala299Pro)
|
rs1554110994
|
|
|
NM_001372066.1(TFAP2A):c.94C>T (p.Gln32Ter)
|
rs1757903817
|
|
|
NM_001374353.1(GLI2):c.1370G>A (p.Trp457Ter)
|
rs1553476382
|
|
|
NM_001374353.1(GLI2):c.1427A>G (p.His476Arg)
|
|
|
|
NM_001374353.1(GLI2):c.149-877_238del
|
|
|
|
NM_001374353.1(GLI2):c.162_163del (p.Leu55fs)
|
rs778975466
|
|
|
NM_001374353.1(GLI2):c.1889del (p.Lys630fs)
|
rs1573730110
|
|
|
NM_001374353.1(GLI2):c.1905+1G>A
|
rs1558937172
|
|
|
NM_001374353.1(GLI2):c.254+1G>T
|
|
|
|
NM_001374353.1(GLI2):c.2987_2994dup (p.Asp999fs)
|
|
|
|
NM_001374353.1(GLI2):c.349del (p.Ala117fs)
|
|
|
|
NM_001374353.1(GLI2):c.3625C>T (p.Arg1209Ter)
|
rs1683184865
|
|
|
NM_001374353.1(GLI2):c.4426_4428del (p.Val1476del)
|
|
|
|
NM_001374353.1(GLI2):c.693_696dup (p.Leu233fs)
|
|
|
|
NM_001374353.1(GLI2):c.900del (p.Ser301fs)
|
rs2105019803
|
|
|
NM_001374828.1(ARID1B):c.1293_1317del (p.Ala433fs)
|
rs1778944605
|
|
|
NM_001374828.1(ARID1B):c.1293_1320dup (p.Tyr441fs)
|
|
|
|
NM_001374828.1(ARID1B):c.1462_1466del (p.Phe488fs)
|
|
|
|
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs)
|
rs1779004027
|
|
|
NM_001374828.1(ARID1B):c.1651C>A (p.Gln551Lys)
|
rs1583027141
|
|
|
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter)
|
rs1779032666
|
|
|
NM_001374828.1(ARID1B):c.1811del (p.Met604fs)
|
|
|
|
NM_001374828.1(ARID1B):c.1853dup (p.His619fs)
|
|
|
|
NM_001374828.1(ARID1B):c.2025C>G (p.Tyr675Ter)
|
rs773640553
|
|
|
NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs)
|
rs1582908829
|
|
|
NM_001374828.1(ARID1B):c.2073dup (p.His692fs)
|
rs2128210922
|
|
|
NM_001374828.1(ARID1B):c.2078del (p.Leu693fs)
|
rs2128210949
|
|
|
NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs)
|
rs1583280025
|
|
|
NM_001374828.1(ARID1B):c.2480C>T (p.Ala827Val)
|
|
|
|
NM_001374828.1(ARID1B):c.2491G>C (p.Gly831Arg)
|
|
|
|
NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser)
|
rs1057518045
|
|
|
NM_001374828.1(ARID1B):c.2582-2A>C
|
rs1057524160
|
|
|
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs)
|
rs1085307695
|
|
|
NM_001374828.1(ARID1B):c.266G>A (p.Gly89Asp)
|
rs1057518648
|
|
|
NM_001374828.1(ARID1B):c.2714del (p.Asn905fs)
|
|
|
|
NM_001374828.1(ARID1B):c.2742_2750delinsAC (p.Met914fs)
|
|
|
|
NM_001374828.1(ARID1B):c.2762-3_2762-2delinsAG
|
|
|
|
NM_001374828.1(ARID1B):c.2912C>A (p.Ser971Ter)
|
|
|
|
NM_001374828.1(ARID1B):c.2956del (p.Ser985_Met986insTer)
|
rs2128634579
|
|
|
NM_001374828.1(ARID1B):c.3061C>T (p.Gln1021Ter)
|
|
|
|
NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs)
|
rs1583451146
|
|
|
NM_001374828.1(ARID1B):c.3306_3310del (p.Lys1103fs)
|
rs1131692263
|
|
|
NM_001374828.1(ARID1B):c.3581_3602del (p.Leu1194fs)
|
rs1792478147
|
|
|
NM_001374828.1(ARID1B):c.3589G>A (p.Asp1197Asn)
|
|
|
|
NM_001374828.1(ARID1B):c.3655_3656dup (p.Pro1220fs)
|
rs1057519009
|
|
|
NM_001374828.1(ARID1B):c.3664dup (p.Asp1222fs)
|
rs2128317569
|
|
|
NM_001374828.1(ARID1B):c.3704G>C (p.Gly1235Ala)
|
|
|
|
NM_001374828.1(ARID1B):c.3721A>T (p.Lys1241Ter)
|
|
|
|
NM_001374828.1(ARID1B):c.3770C>G (p.Ser1257Ter)
|
rs1583469292
|
|
|
NM_001374828.1(ARID1B):c.3827_3828del (p.Glu1276fs)
|
rs2128325428
|
|
|
NM_001374828.1(ARID1B):c.3933del (p.Leu1312fs)
|
|
|
|
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)
|
rs1289067120
|
|
|
NM_001374828.1(ARID1B):c.4028del (p.His1343fs)
|
|
|
|
NM_001374828.1(ARID1B):c.4205dup (p.Asp1403fs)
|
|
|
|
NM_001374828.1(ARID1B):c.4232-1G>A
|
|
|
|
NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter)
|
rs1554234402
|
|
|
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)
|
rs797045277
|
|
|
NM_001374828.1(ARID1B):c.4557C>A (p.Tyr1519Ter)
|
|
|
|
NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter)
|
rs1794042593
|
|
|
NM_001374828.1(ARID1B):c.4620del (p.Arg1540fs)
|
rs2128372930
|
|
|
NM_001374828.1(ARID1B):c.4638C>G (p.Tyr1546Ter)
|
|
|
|
NM_001374828.1(ARID1B):c.4647del (p.Tyr1550fs)
|
|
|
|
NM_001374828.1(ARID1B):c.4705C>T (p.Gln1569Ter)
|
rs797045278
|
|
|
NM_001374828.1(ARID1B):c.4726C>T (p.Gln1576Ter)
|
|
|
|
NM_001374828.1(ARID1B):c.4770_4771dup (p.Arg1591fs)
|
|
|
|
NM_001374828.1(ARID1B):c.4808del (p.Gly1603fs)
|
rs2128374043
|
|
|
NM_001374828.1(ARID1B):c.4825C>T (p.Gln1609Ter)
|
rs1064793482
|
|
|
NM_001374828.1(ARID1B):c.5047C>T (p.Gln1683Ter)
|
|
|
|
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs)
|
rs1583502875
|
|
|
NM_001374828.1(ARID1B):c.5264-2A>G
|
rs1794274425
|
|
|
NM_001374828.1(ARID1B):c.5276dup (p.Trp1760fs)
|
|
|
|
NM_001374828.1(ARID1B):c.5394+1G>A
|
rs1057518984
|
|
|
NM_001374828.1(ARID1B):c.5394+3A>C
|
rs1794283740
|
|
|
NM_001374828.1(ARID1B):c.5395-1G>A
|
|
|
|
NM_001374828.1(ARID1B):c.5395-2A>C
|
rs1562350940
|
|
|
NM_001374828.1(ARID1B):c.5399del (p.Ser1800fs)
|
|
|
|
NM_001374828.1(ARID1B):c.5402del (p.Gly1801fs)
|
rs2128391037
|
|
|
NM_001374828.1(ARID1B):c.5417dup (p.Leu1806fs)
|
|
|
|
NM_001374828.1(ARID1B):c.5615_5616dup (p.Glu1873fs)
|
rs2128392250
|
|
|
NM_001374828.1(ARID1B):c.5635G>T (p.Glu1879Ter)
|
rs1794456297
|
|
|
NM_001374828.1(ARID1B):c.5719_5722del (p.Phe1907fs)
|
|
|
|
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs)
|
rs1554237269
|
|
|
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter)
|
rs797045282
|
|
|
NM_001374828.1(ARID1B):c.5825G>A (p.Trp1942Ter)
|
|
|
|
NM_001374828.1(ARID1B):c.5851G>T (p.Glu1951Ter)
|
rs1451259945
|
|
|
NM_001374828.1(ARID1B):c.5896C>T (p.Arg1966Cys)
|
rs1369594791
|
|
|
NM_001374828.1(ARID1B):c.5903del (p.Arg1968fs)
|
rs2128393700
|
|
|
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs)
|
rs1794490994
|
|
|
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter)
|
rs886041878
|
|
|
NM_001374828.1(ARID1B):c.6103del (p.Ser2035fs)
|
|
|
|
NM_001374828.1(ARID1B):c.612_613insGCAGCAG (p.Gln205fs)
|
|
|
|
NM_001374828.1(ARID1B):c.6161dup (p.Cys2055fs)
|
|
|
|
NM_001374828.1(ARID1B):c.6199C>T (p.Arg2067Ter)
|
rs1028186690
|
|
|
NM_001374828.1(ARID1B):c.6224T>G (p.Val2075Gly)
|
|
|
|
NM_001374828.1(ARID1B):c.6263T>C (p.Met2088Thr)
|
rs1583516082
|
|
|
NM_001374828.1(ARID1B):c.6286del (p.Val2095_Leu2096insTer)
|
|
|
|
NM_001374828.1(ARID1B):c.6359_6360del (p.Lys2120fs)
|
|
|
|
NM_001374828.1(ARID1B):c.6407G>A (p.Trp2136Ter)
|
|
|
|
NM_001374828.1(ARID1B):c.6451_6453del (p.Leu2151del)
|
|
|
|
NM_001374828.1(ARID1B):c.6533G>A (p.Trp2178Ter)
|
|
|
|
NM_001374828.1(ARID1B):c.6617T>C (p.Leu2206Pro)
|
rs1794550318
|
|
|
NM_001374828.1(ARID1B):c.6619G>T (p.Glu2207Ter)
|
|
|
|
NM_001374828.1(ARID1B):c.6842del (p.Asn2281fs)
|
rs1562354784
|
|
|
NM_001374828.1(ARID1B):c.6873dup (p.Met2292fs)
|
rs2128398868
|
|
|
NM_001374828.1(ARID1B):c.6895C>T (p.Gln2299Ter)
|
rs758120346
|
|
|
NM_001374828.1(ARID1B):c.6946_6947del (p.Asp2316fs)
|
|
|
|
NM_001374828.1(ARID1B):c.7052C>A (p.Ser2351Ter)
|
|
|
|
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs)
|
rs1794584714
|
|
|
NM_001374828.1(ARID1B):c.951T>G (p.Tyr317Ter)
|
|
|
|
NM_001375524.1(TRRAP):c.2622+1G>A
|
|
|
|
NM_001375524.1(TRRAP):c.9952A>G (p.Met3318Val)
|
rs1793524609
|
|
|
NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His)
|
rs2152591288
|
|
|
NM_001376.5(DYNC1H1):c.10172C>T (p.Pro3391Leu)
|
rs1555411378
|
|
|
NM_001376.5(DYNC1H1):c.10280A>C (p.Gln3427Pro)
|
rs1555411394
|
|
|
NM_001376.5(DYNC1H1):c.10968_10969del (p.Gly3658fs)
|
|
|
|
NM_001376.5(DYNC1H1):c.11015C>T (p.Ser3672Leu)
|
rs2152594747
|
|
|
NM_001376.5(DYNC1H1):c.11183G>C (p.Arg3728Pro)
|
rs797045529
|
|
|
NM_001376.5(DYNC1H1):c.12214G>T (p.Gly4072Cys)
|
rs2152596521
|
|
|
NM_001376.5(DYNC1H1):c.12419G>A (p.Arg4140His)
|
rs770451110
|
|
|
NM_001376.5(DYNC1H1):c.1739A>C (p.Glu580Ala)
|
rs2141274671
|
|
|
NM_001376.5(DYNC1H1):c.2327delinsGGGT (p.Pro776delinsArgVal)
|
|
|
|
NM_001376.5(DYNC1H1):c.2644C>A (p.Gln882Lys)
|
rs2047950288
|
|
|
NM_001376.5(DYNC1H1):c.2868+2_2868+5delinsCCACAAA
|
rs2141276717
|
|
|
NM_001376.5(DYNC1H1):c.2900A>G (p.Gln967Arg)
|
rs2047998539
|
|
|
NM_001376.5(DYNC1H1):c.3170A>G (p.Tyr1057Cys)
|
rs2048038246
|
|
|
NM_001376.5(DYNC1H1):c.3183G>C (p.Trp1061Cys)
|
|
|
|
NM_001376.5(DYNC1H1):c.3281A>G (p.Asp1094Gly)
|
|
|
|
NM_001376.5(DYNC1H1):c.4042G>A (p.Glu1348Lys)
|
rs1047509819
|
|
|
NM_001376.5(DYNC1H1):c.4053G>A (p.Trp1351Ter)
|
|
|
|
NM_001376.5(DYNC1H1):c.4067C>T (p.Pro1356Leu)
|
|
|
|
NM_001376.5(DYNC1H1):c.4700G>T (p.Arg1567Leu)
|
rs797044901
|
|
|
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln)
|
rs1064796765
|
|
|
NM_001376.5(DYNC1H1):c.5873A>G (p.Asp1958Gly)
|
|
|
|
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)
|
rs1057518287
|
|
|
NM_001376.5(DYNC1H1):c.5902C>T (p.Leu1968Phe)
|
|
|
|
NM_001376.5(DYNC1H1):c.6122T>C (p.Met2041Thr)
|
rs1555409836
|
|
|
NM_001376.5(DYNC1H1):c.6148G>C (p.Ala2050Pro)
|
|
|
|
NM_001376.5(DYNC1H1):c.6870C>A (p.Ser2290Arg)
|
|
|
|
NM_001376.5(DYNC1H1):c.6872T>G (p.Val2291Gly)
|
|
|
|
NM_001376.5(DYNC1H1):c.6943T>G (p.Leu2315Val)
|
|
|
|
NM_001376.5(DYNC1H1):c.7145_7148dup (p.Ser2384fs)
|
rs2152581547
|
|
|
NM_001376.5(DYNC1H1):c.7474C>T (p.Arg2492Ter)
|
rs2048322542
|
|
|
NM_001376.5(DYNC1H1):c.7994A>G (p.Glu2665Gly)
|
|
|
|
NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp)
|
rs2047850664
|
|
|
NM_001376.5(DYNC1H1):c.9055G>A (p.Gly3019Ser)
|
rs2152589131
|
|
|
NM_001376.5(DYNC1H1):c.9209C>T (p.Pro3070Leu)
|
rs2152589194
|
|
|
NM_001376.5(DYNC1H1):c.9547dup (p.Tyr3183fs)
|
rs2152590132
|
|
|
NM_001376.5(DYNC1H1):c.9751G>A (p.Glu3251Lys)
|
rs2152590264
|
|
|
NM_001376.5(DYNC1H1):c.9959C>T (p.Ala3320Val)
|
rs1555411305
|
|
|
NM_001377265.1(MAPT):c.2260C>T (p.His754Tyr)
|
rs1568339995
|
|
|
NM_001378120.1(MBD5):c.101T>A (p.Val34Glu)
|
|
|
|
NM_001378120.1(MBD5):c.1119del (p.Val374fs)
|
rs1680695228
|
|
|
NM_001378120.1(MBD5):c.114-2A>T
|
rs1574451881
|
|
|
NM_001378120.1(MBD5):c.1250T>G (p.Met417Arg)
|
|
|
|
NM_001378120.1(MBD5):c.1438C>T (p.Gln480Ter)
|
|
|
|
NM_001378120.1(MBD5):c.1756G>A (p.Ala586Thr)
|
|
|
|
NM_001378120.1(MBD5):c.1A>G (p.Met1Val)
|
|
|
|
NM_001378120.1(MBD5):c.2012_2013del (p.Arg671fs)
|
|
|
|
NM_001378120.1(MBD5):c.316_319dup (p.Ile107fs)
|
|
|
|
NM_001378120.1(MBD5):c.346dup (p.Met116fs)
|
|
|
|
NM_001378120.1(MBD5):c.5020C>T (p.Arg1674Trp)
|
rs1393532031
|
|
|
NM_001378120.1(MBD5):c.5037-2A>G
|
|
|
|
NM_001378120.1(MBD5):c.74G>A (p.Trp25Ter)
|
|
|
|
NM_001378120.1(MBD5):c.830C>G (p.Ser277Ter)
|
rs1029755113
|
|
|
NM_001378120.1(MBD5):c.936dup (p.Pro313fs)
|
rs2105627349
|
|
|
NM_001378452.1(ITPR1):c.107G>A (p.Arg36His)
|
rs1057518026
|
|
|
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly)
|
rs2093873520
|
|
|
NM_001378452.1(ITPR1):c.1534G>A (p.Glu512Lys)
|
rs2125193560
|
|
|
NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)
|
|
|
|
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)
|
rs1559718601
|
|
|
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)
|
rs397514535
|
|
|
NM_001378452.1(ITPR1):c.4691T>C (p.Leu1564Pro)
|
rs2125272771
|
|
|
NM_001378452.1(ITPR1):c.5616G>A (p.Met1872Ile)
|
rs1002376493
|
|
|
NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys)
|
rs2125159664
|
|
|
NM_001378452.1(ITPR1):c.7301C>T (p.Thr2434Ile)
|
|
|
|
NM_001378452.1(ITPR1):c.7345A>G (p.Ile2449Val)
|
|
|
|
NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys)
|
rs1553666546
|
|
|
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del)
|
rs1559603328
|
|
|
NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu)
|
rs2125159710
|
|
|
NM_001378452.1(ITPR1):c.755C>T (p.Thr252Ile)
|
rs2125159718
|
|
|
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)
|
rs1553757628
|
|
|
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg)
|
rs752281590
|
|
|
NM_001378452.1(ITPR1):c.773A>T (p.Lys258Met)
|
|
|
|
NM_001378452.1(ITPR1):c.7784G>C (p.Gly2595Ala)
|
rs869312685
|
|
|
NM_001378452.1(ITPR1):c.7798A>C (p.Thr2600Pro)
|
rs2106494596
|
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
|
NM_001378452.1(ITPR1):c.823G>A (p.Ala275Thr)
|
|
|
|
NM_001378452.1(ITPR1):c.830G>T (p.Ser277Ile)
|
rs863224882
|
|
|
NM_001378457.1(DMXL2):c.1463C>T (p.Thr488Met)
|
|
|
|
NM_001378457.1(DMXL2):c.5093A>G (p.Asn1698Ser)
|
|
|
|
NM_001378457.1(DMXL2):c.8219G>A (p.Arg2740His)
|
|
|
|
NM_001378609.3(OTOGL):c.850_851insCATCGCTATGTTTGCA (p.Asn284fs)
|
rs1565920060
|
|
|
NM_001378743.1(CYLD):c.2616del (p.His871_Tyr872insTer)
|
|
|
|
NM_001378743.1(CYLD):c.2723dup (p.Cys909fs)
|
|
|
|
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu)
|
rs867628133
|
|
|
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg)
|
rs1057521793
|
|
|
NM_001378969.1(KCND3):c.1129A>G (p.Thr377Ala)
|
|
|
|
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met)
|
rs1571636501
|
|
|
NM_001378969.1(KCND3):c.1138G>T (p.Gly380Trp)
|
|
|
|
NM_001378969.1(KCND3):c.1291C>T (p.Arg431Cys)
|
rs777183510
|
|
|
NM_001378969.1(KCND3):c.611C>T (p.Thr204Met)
|
rs2101997230
|
|
|
NM_001378969.1(KCND3):c.848C>G (p.Ser283Cys)
|
|
|
|
NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln)
|
rs1674966041
|
|
|
NM_001378969.1(KCND3):c.905G>C (p.Arg302Pro)
|
rs2101995572
|
|
|
NM_001378969.1(KCND3):c.911C>T (p.Ser304Phe)
|
rs2101995530
|
|
|
NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg)
|
rs2101995228
|
|
|
NM_001379029.1(CERT1):c.1742C>T (p.Ala581Val)
|
|
|
|
NM_001379029.1(CERT1):c.496A>G (p.Thr166Ala)
|
rs1580752093
|
|
|
NM_001379029.1(CERT1):c.728G>C (p.Gly243Ala)
|
|
|
|
NM_001384140.1(PCDH15):c.788C>A (p.Pro263Gln)
|
rs1564949059
|
|
|
NM_001386135.1(AFF3):c.1548del (p.Ser517fs)
|
|
|
|
NM_001386135.1(AFF3):c.2840G>A (p.Arg947Gln)
|
|
|
|
NM_001386135.1(AFF3):c.698C>T (p.Ala233Val)
|
rs2104734977
|
|
|
NM_001386135.1(AFF3):c.[2151dup;3059A>G]
|
|
|
|
NM_001386298.1(CIC):c.1026dup (p.Trp343fs)
|
|
|
|
NM_001386298.1(CIC):c.111_112del (p.Asp38fs)
|
|
|
|
NM_001386298.1(CIC):c.1582C>T (p.Arg528Ter)
|
rs2147018633
|
|
|
NM_001386298.1(CIC):c.1631del (p.Gly544fs)
|
|
|
|
NM_001386298.1(CIC):c.2363del (p.Pro788fs)
|
|
|
|
NM_001386298.1(CIC):c.3370C>T (p.Arg1124Trp)
|
rs1568504941
|
|
|
NM_001386298.1(CIC):c.3407A>G (p.Asn1136Ser)
|
rs2037753806
|
|
|
NM_001386298.1(CIC):c.3428T>C (p.Leu1143Pro)
|
|
|
|
NM_001386298.1(CIC):c.4594G>T (p.Gly1532Ter)
|
rs747706524
|
|
|
NM_001386298.1(CIC):c.4869del (p.Ser1624fs)
|
|
|
|
NM_001386298.1(CIC):c.5424del (p.Ala1809fs)
|
|
|
|
NM_001386298.1(CIC):c.5501C>T (p.Pro1834Leu)
|
|
|
|
NM_001386298.1(CIC):c.5903-1G>A
|
|
|
|
NM_001386298.1(CIC):c.6055C>T (p.Gln2019Ter)
|
|
|
|
NM_001386298.1(CIC):c.6793G>T (p.Glu2265Ter)
|
rs752780532
|
|
|
NM_001429.3(EP300):c.3857A>G
|
rs1555910821
|
|
|
NM_001429.4(EP300):c.1155_1156del (p.Lys386fs)
|
|
|
|
NM_001429.4(EP300):c.1282+1G>A
|
|
|
|
NM_001429.4(EP300):c.147_156del (p.Ser50fs)
|
|
|
|
NM_001429.4(EP300):c.1709_1710del (p.Gln570fs)
|
|
|
|
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter)
|
rs137853038
|
|
|
NM_001429.4(EP300):c.1739G>A (p.Arg580Gln)
|
|
|
|
NM_001429.4(EP300):c.1878+1G>A
|
rs2058974109
|
|
|
NM_001429.4(EP300):c.1921C>A (p.Gln641Lys)
|
|
|
|
NM_001429.4(EP300):c.2064dup (p.Pro689fs)
|
rs1601617062
|
|
|
NM_001429.4(EP300):c.2132-1G>A
|
rs2145734002
|
|
|
NM_001429.4(EP300):c.2461_2470del (p.Gln821fs)
|
|
|
|
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile)
|
rs953108559
|
|
|
NM_001429.4(EP300):c.2960del (p.Pro987fs)
|
|
|
|
NM_001429.4(EP300):c.2998-3_2998-2del
|
rs2145740556
|
|
|
NM_001429.4(EP300):c.3067del (p.Glu1022_Ile1023insTer)
|
rs2059050708
|
|
|
NM_001429.4(EP300):c.3135_3138del (p.Lys1046fs)
|
rs2059051273
|
|
|
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter)
|
rs565779970
|
|
|
NM_001429.4(EP300):c.3589A>T (p.Arg1197Trp)
|
rs1340981566
|
|
|
NM_001429.4(EP300):c.3671+1G>A
|
rs2059103511
|
|
|
NM_001429.4(EP300):c.3671+5G>C
|
|
|
|
NM_001429.4(EP300):c.369_370dup (p.Ser124fs)
|
|
|
|
NM_001429.4(EP300):c.3729-1G>T
|
rs2145756375
|
|
|
NM_001429.4(EP300):c.3731TTG[1] (p.Val1245del)
|
rs1555910602
|
|
|
NM_001429.4(EP300):c.3733del (p.Val1245fs)
|
|
|
|
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr)
|
rs1601629319
|
|
|
NM_001429.4(EP300):c.3815G>C (p.Cys1272Ser)
|
|
|
|
NM_001429.4(EP300):c.4124G>T (p.Gly1375Val)
|
|
|
|
NM_001429.4(EP300):c.4173G>C (p.Arg1391Ser)
|
rs1464734494
|
|
|
NM_001429.4(EP300):c.4232C>T (p.Thr1411Ile)
|
rs1601633708
|
|
|
NM_001429.4(EP300):c.4287-1G>T
|
|
|
|
NM_001429.4(EP300):c.4318C>A (p.Pro1440Thr)
|
|
|
|
NM_001429.4(EP300):c.4371_4376del (p.Ile1457_Lys1459delinsMet)
|
rs1555911316
|
|
|
NM_001429.4(EP300):c.4452+5G>T
|
rs1555911334
|
|
|
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu)
|
rs1555911573
|
|
|
NM_001429.4(EP300):c.4692dup (p.Arg1565Ter)
|
rs1601636935
|
|
|
NM_001429.4(EP300):c.4879C>T (p.Arg1627Trp)
|
|
|
|
NM_001429.4(EP300):c.5245C>T (p.Arg1749Trp)
|
rs2145515250
|
|
|
NM_001429.4(EP300):c.5366GCT[1] (p.Cys1790del)
|
|
|
|
NM_001429.4(EP300):c.5486G>C (p.Arg1829Pro)
|
rs2145516079
|
|
|
NM_001429.4(EP300):c.5492G>C (p.Arg1831Thr)
|
rs1601639958
|
|
|
NM_001429.4(EP300):c.5493G>C (p.Arg1831Ser)
|
rs1379274045
|
|
|
NM_001429.4(EP300):c.5586del (p.Gln1862fs)
|
|
|
|
NM_001429.4(EP300):c.5894dup (p.Met1965fs)
|
|
|
|
NM_001429.4(EP300):c.5897del (p.Gly1966fs)
|
|
|
|
NM_001429.4(EP300):c.598C>T (p.Arg200Ter)
|
rs769721953
|
|
|
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser)
|
rs1210404526
|
|
|
NM_001429.4(EP300):c.6015_6028del (p.Gln2005fs)
|
rs2059210417
|
|
|
NM_001429.4(EP300):c.6121_6124del (p.Leu2041fs)
|
rs2059211409
|
|
|
NM_001429.4(EP300):c.6196C>T (p.Gln2066Ter)
|
rs1555912238
|
|
|
NM_001429.4(EP300):c.6454C>T (p.Gln2152Ter)
|
|
|
|
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del)
|
rs875989807
|
|
|
NM_001429.4(EP300):c.6691del (p.Met2231fs)
|
rs1601641819
|
|
|
NM_001447.3(FAT2):c.3632A>C (p.Glu1211Ala)
|
|
|
|
NM_001457.4(FLNB):c.2806G>A (p.Val936Met)
|
|
|
|
NM_001457.4(FLNB):c.4545T>A (p.Tyr1515Ter)
|
|
|
|
NM_001457.4(FLNB):c.4550C>A (p.Ala1517Asp)
|
rs372940610
|
|
|
NM_001457.4(FLNB):c.4570G>A (p.Gly1524Ser)
|
rs2107220190
|
|
|
NM_001457.4(FLNB):c.4604G>A (p.Ser1535Asn)
|
|
|
|
NM_001457.4(FLNB):c.4625T>C (p.Ile1542Thr)
|
rs1356745912
|
|
|
NM_001457.4(FLNB):c.4861+2T>G
|
|
|
|
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser)
|
rs80356504
|
|
|
NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp)
|
rs1553704446
|
|
|
NM_001457.4(FLNB):c.591T>A (p.Asn197Lys)
|
rs1274950884
|
|
|
NM_001458.5(FLNC):c.1047+1G>A
|
rs762493013
|
|
|
NM_001458.5(FLNC):c.1047+1G>T
|
rs762493013
|
|
|
NM_001458.5(FLNC):c.1210+1G>A
|
|
|
|
NM_001458.5(FLNC):c.1353del (p.His451fs)
|
|
|
|
NM_001458.5(FLNC):c.1411+1G>T
|
rs2128934545
|
|
|
NM_001458.5(FLNC):c.1548_1549+2del
|
rs763330423
|
|
|
NM_001458.5(FLNC):c.1549+1G>A
|
|
|
|
NM_001458.5(FLNC):c.1549+2T>G
|
rs111806457
|
|
|
NM_001458.5(FLNC):c.1676+1G>A
|
rs111452612
|
|
|
NM_001458.5(FLNC):c.1813+2T>C
|
rs113483303
|
|
|
NM_001458.5(FLNC):c.1814-1G>A
|
|
|
|
NM_001458.5(FLNC):c.2007+1G>A
|
|
|
|
NM_001458.5(FLNC):c.2265+1G>A
|
rs1585157354
|
|
|
NM_001458.5(FLNC):c.2265+2T>C
|
|
|
|
NM_001458.5(FLNC):c.2550+1G>C
|
|
|
|
NM_001458.5(FLNC):c.2550+2T>C
|
rs113972676
|
|
|
NM_001458.5(FLNC):c.2641+1G>T
|
|
|
|
NM_001458.5(FLNC):c.2641+2T>G
|
|
|
|
NM_001458.5(FLNC):c.2811+1G>T
|
rs2128936028
|
|
|
NM_001458.5(FLNC):c.2929+2_2929+7del
|
rs2128936119
|
|
|
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter)
|
rs886037830
|
|
|
NM_001458.5(FLNC):c.3193-2A>G
|
rs749889670
|
|
|
NM_001458.5(FLNC):c.352+1G>A
|
|
|
|
NM_001458.5(FLNC):c.352+1G>T
|
|
|
|
NM_001458.5(FLNC):c.3581C>T (p.Ser1194Leu)
|
rs773481064
|
|
|
NM_001458.5(FLNC):c.3791-1G>A
|
|
|
|
NM_001458.5(FLNC):c.3964+1G>A
|
rs1808557594
|
|
|
NM_001458.5(FLNC):c.3964+1G>T
|
rs1808557594
|
|
|
NM_001458.5(FLNC):c.4127+1G>A
|
|
|
|
NM_001458.5(FLNC):c.4128-1G>C
|
|
|
|
NM_001458.5(FLNC):c.4128-2_4128-1del
|
rs1808585056
|
|
|
NM_001458.5(FLNC):c.4271G>T (p.Gly1424Val)
|
|
|
|
NM_001458.5(FLNC):c.4288+1G>A
|
rs2128937065
|
|
|
NM_001458.5(FLNC):c.4288+2T>G
|
|
|
|
NM_001458.5(FLNC):c.4457-1G>A
|
rs1404524040
|
|
|
NM_001458.5(FLNC):c.4580+1G>A
|
|
|
|
NM_001458.5(FLNC):c.4637G>A (p.Gly1546Asp)
|
rs1427917546
|
|
|
NM_001458.5(FLNC):c.46dup (p.Asp16fs)
|
|
|
|
NM_001458.5(FLNC):c.4737+1G>T
|
|
|
|
NM_001458.5(FLNC):c.4920_4927+6del
|
|
|
|
NM_001458.5(FLNC):c.4927+2T>C
|
|
|
|
NM_001458.5(FLNC):c.4927+2T>G
|
rs2128937680
|
|
|
NM_001458.5(FLNC):c.4928-1G>C
|
|
|
|
NM_001458.5(FLNC):c.4951+2T>C
|
rs1585164316
|
|
|
NM_001458.5(FLNC):c.4952-2A>T
|
rs774945928
|
|
|
NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter)
|
rs1563000044
|
|
|
NM_001458.5(FLNC):c.5137A>T (p.Lys1713Ter)
|
|
|
|
NM_001458.5(FLNC):c.5185C>T (p.Pro1729Ser)
|
|
|
|
NM_001458.5(FLNC):c.5199+1G>C
|
rs1465588989
|
|
|
NM_001458.5(FLNC):c.5398+1G>C
|
rs1808761665
|
|
|
NM_001458.5(FLNC):c.5399-1G>A
|
|
|
|
NM_001458.5(FLNC):c.5399-2A>C
|
rs2128938204
|
|
|
NM_001458.5(FLNC):c.5540-2A>G
|
rs111477195
|
|
|
NM_001458.5(FLNC):c.5551C>T (p.Gln1851Ter)
|
|
|
|
NM_001458.5(FLNC):c.5683G>C (p.Ala1895Pro)
|
rs2128938435
|
|
|
NM_001458.5(FLNC):c.5842+1G>A
|
rs2128938502
|
|
|
NM_001458.5(FLNC):c.5842+2T>G
|
rs2128938503
|
|
|
NM_001458.5(FLNC):c.5843-2A>G
|
rs1808866340
|
|
|
NM_001458.5(FLNC):c.602-2A>C
|
|
|
|
NM_001458.5(FLNC):c.6202_6208+11del
|
|
|
|
NM_001458.5(FLNC):c.6209-1G>C
|
|
|
|
NM_001458.5(FLNC):c.6362-1G>T
|
rs1808924231
|
|
|
NM_001458.5(FLNC):c.6494del (p.Phe2165fs)
|
|
|
|
NM_001458.5(FLNC):c.6569G>C (p.Arg2190Pro)
|
rs762680314
|
|
|
NM_001458.5(FLNC):c.6958G>A (p.Gly2320Arg)
|
rs867808948
|
|
|
NM_001458.5(FLNC):c.699+1G>A
|
rs1562991776
|
|
|
NM_001458.5(FLNC):c.699+2T>C
|
|
|
|
NM_001458.5(FLNC):c.6997+1G>A
|
|
|
|
NM_001458.5(FLNC):c.6997+1G>T
|
rs1585169973
|
|
|
NM_001458.5(FLNC):c.7384+2T>C
|
rs112941619
|
|
|
NM_001458.5(FLNC):c.7559C>A (p.Thr2520Asn)
|
rs1809086992
|
|
|
NM_001458.5(FLNC):c.7562-1G>A
|
rs2128940335
|
|
|
NM_001458.5(FLNC):c.7581del (p.Ile2527fs)
|
|
|
|
NM_001458.5(FLNC):c.7718T>G (p.Ile2573Ser)
|
|
|
|
NM_001458.5(FLNC):c.7780+1G>A
|
rs1563005607
|
|
|
NM_001458.5(FLNC):c.7780+1G>C
|
rs1563005607
|
|
|
NM_001458.5(FLNC):c.7780+1G>T
|
|
|
|
NM_001458.5(FLNC):c.7780+2T>A
|
|
|
|
NM_001458.5(FLNC):c.7780+2T>C
|
rs1809110247
|
|
|
NM_001458.5(FLNC):c.7925del (p.Gly2642fs)
|
|
|
|
NM_001458.5(FLNC):c.850+1G>A
|
rs1808146842
|
|
|
NM_001458.5(FLNC):c.850+1G>T
|
rs1808146842
|
|
|
NM_001466.4(FZD2):c.1130G>A (p.Trp377Ter)
|
rs1555657045
|
|
|
NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser)
|
rs1223920489
|
|
|
NM_001466.4(FZD2):c.1301G>T (p.Gly434Val)
|
rs1555657073
|
|
|
NM_001466.4(FZD2):c.1301_1302delinsTT (p.Gly434Val)
|
rs1555657074
|
|
|
NM_001470.4(GABBR1):c.1042G>C (p.Ala348Pro)
|
|
|
|
NM_001540.5(HSPB1):c.180dup (p.Ala61fs)
|
rs1064796370
|
|
|
NM_001540.5(HSPB1):c.19C>T (p.Pro7Ser)
|
rs1563651698
|
|
|
NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys)
|
rs28939680
|
|
|
NM_001540.5(HSPB1):c.415A>G (p.Thr139Ala)
|
rs1554614648
|
|
|
NM_001540.5(HSPB1):c.510del (p.Lys171fs)
|
rs1803069940
|
|
|
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser)
|
rs104894020
|
|
|
NM_001563.4(IMPG1):c.1736T>C (p.Leu579Pro)
|
rs1782008883
|
|
|
NM_001563.4(IMPG1):c.1824+1G>A
|
rs770887047
|
|
|
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)
|
rs1568060200
|
|
|
NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp)
|
rs1192977984
|
|
|
NM_001614.5(ACTG1):c.1013C>T (p.Ser338Leu)
|
rs1192977984
|
|
|
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val)
|
rs782217473
|
|
|
NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn)
|
|
|
|
NM_001614.5(ACTG1):c.188G>C (p.Gly63Ala)
|
|
|
|
NM_001614.5(ACTG1):c.20C>T (p.Ala7Val)
|
|
|
|
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val)
|
rs11549190
|
|
|
NM_001614.5(ACTG1):c.431C>T (p.Ala144Val)
|
|
|
|
NM_001614.5(ACTG1):c.434C>T (p.Ser145Phe)
|
rs2143779274
|
|
|
NM_001614.5(ACTG1):c.440G>A (p.Arg147His)
|
rs2143779222
|
|
|
NM_001614.5(ACTG1):c.442A>G (p.Thr148Ala)
|
|
|
|
NM_001614.5(ACTG1):c.457A>G (p.Met153Val)
|
rs1555666789
|
|
|
NM_001614.5(ACTG1):c.493A>G (p.Ile165Val)
|
rs2031770749
|
|
|
NM_001614.5(ACTG1):c.494T>A (p.Ile165Asn)
|
|
|
|
NM_001614.5(ACTG1):c.494T>C (p.Ile165Thr)
|
rs2143778877
|
|
|
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val)
|
rs797044730
|
|
|
NM_001614.5(ACTG1):c.547C>T (p.Arg183Trp)
|
rs1362994447
|
|
|
NM_001614.5(ACTG1):c.608C>T (p.Thr203Met)
|
rs281875327
|
|
|
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln)
|
rs1555666715
|
|
|
NM_001614.5(ACTG1):c.714_716del (p.Lys238_Ser239delinsAsn)
|
|
|
|
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys)
|
rs267606631
|
|
|
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)
|
rs281875328
|
|
|
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp)
|
rs281875329
|
|
|
NM_001614.5(ACTG1):c.826G>A (p.Glu276Lys)
|
rs2143775790
|
|
|
NM_001614.5(ACTG1):c.848T>C (p.Met283Thr)
|
rs2143775617
|
|
|
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser)
|
rs1598551290
|
|
|
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)
|
|
|
|
NM_001844.5(COL2A1):c.3435+4_3435+7del
|
|
|
|
NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter)
|
|
|
|
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln)
|
rs758825857
|
|
|
NM_001854.4(COL11A1):c.2287G>T (p.Gly763Ter)
|
rs2101794024
|
|
|
NM_001854.4(COL11A1):c.3168+1G>A
|
rs886042653
|
|
|
NM_001854.4(COL11A1):c.3600+2T>C
|
|
|
|
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)
|
rs750291363
|
|
|
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys)
|
rs763199410
|
|
|
NM_001854.4(COL11A1):c.4356G>A (p.Lys1452=)
|
|
|
|
NM_001875.5(CPS1):c.2548C>T (p.Arg850Cys)
|
|
|
|
NM_001904.4(CTNNB1):c.1016_1025delinsT (p.Thr339_Arg342delinsIle)
|
rs1559470315
|
|
|
NM_001904.4(CTNNB1):c.1043C>T (p.Ser348Phe)
|
|
|
|
NM_001904.4(CTNNB1):c.1178dup (p.Thr393_Lys394insTer)
|
rs2125638080
|
|
|
NM_001904.4(CTNNB1):c.1186-3T>G
|
rs1212452748
|
|
|
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)
|
rs121913412
|
|
|
NM_001904.4(CTNNB1):c.1271T>G (p.Leu424Arg)
|
rs863224864
|
|
|
NM_001904.4(CTNNB1):c.1287C>A (p.Cys429Ter)
|
rs2078362215
|
|
|
NM_001904.4(CTNNB1):c.1309_1316del (p.Met437fs)
|
|
|
|
NM_001904.4(CTNNB1):c.1314dup (p.Cys439fs)
|
|
|
|
NM_001904.4(CTNNB1):c.1456C>T (p.Arg486Cys)
|
rs113411271
|
|
|
NM_001904.4(CTNNB1):c.1524+2T>A
|
rs878960699
|
|
|
NM_001904.4(CTNNB1):c.1690dup (p.Val564fs)
|
|
|
|
NM_001904.4(CTNNB1):c.1723G>A (p.Gly575Arg)
|
rs797044875
|
|
|
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter)
|
rs1064796453
|
|
|
NM_001904.4(CTNNB1):c.1803+2T>G
|
|
|
|
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter)
|
rs748294403
|
|
|
NM_001904.4(CTNNB1):c.2076G>C (p.Glu692Asp)
|
rs1559477241
|
|
|
NM_001904.4(CTNNB1):c.2125dup (p.Tyr709fs)
|
|
|
|
NM_001904.4(CTNNB1):c.2273del (p.His758fs)
|
rs1575339920
|
|
|
NM_001904.4(CTNNB1):c.242-5T>G
|
rs2125619523
|
|
|
NM_001904.4(CTNNB1):c.374T>A (p.Leu125Ter)
|
|
|
|
NM_001904.4(CTNNB1):c.496-2A>G
|
|
|
|
NM_001904.4(CTNNB1):c.696dup (p.Lys233Ter)
|
rs2125623360
|
|
|
NM_001904.4(CTNNB1):c.923del (p.Asn308fs)
|
|
|
|
NM_001904.4:c.1_1081del
|
|
|
|
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3])
|
rs2138219961
|
|
|
NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met)
|
rs2082362479
|
|
|
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)
|
rs886041197
|
|
|
NM_001958.5(EEF1A2):c.332G>A (p.Cys111Tyr)
|
rs2145944981
|
|
|
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys)
|
rs886042041
|
|
|
NM_001958.5(EEF1A2):c.47T>C (p.Val16Ala)
|
rs1600909763
|
|
|
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp)
|
rs1555883505
|
|
|
NM_001958.5(EEF1A2):c.821C>T (p.Pro274Leu)
|
|
|
|
NM_001961.4(EEF2):c.2314G>A (p.Glu772Lys)
|
rs2145355764
|
|
|
NM_001972.4(ELANE):c.127T>C (p.Phe43Leu)
|
|
|
|
NM_001972.4(ELANE):c.136T>C (p.Ser46Pro)
|
rs2035616857
|
|
|
NM_001972.4(ELANE):c.182C>T (p.Ala61Val)
|
rs137854447
|
|
|
NM_001972.4(ELANE):c.197T>G (p.Met66Arg)
|
|
|
|
NM_001972.4(ELANE):c.212G>T (p.Cys71Phe)
|
rs878855315
|
|
|
NM_001972.4(ELANE):c.362T>G (p.Leu121Arg)
|
|
|
|
NM_001972.4(ELANE):c.367-1G>A
|
|
|
|
NM_001972.4(ELANE):c.367-1G>C
|
rs1442062349
|
|
|
NM_001972.4(ELANE):c.368T>C (p.Leu123Pro)
|
rs2145148405
|
|
|
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)
|
rs137854448
|
|
|
NM_001972.4(ELANE):c.570G>A (p.Val190=)
|
|
|
|
NM_001972.4(ELANE):c.581_597dup (p.Gly200fs)
|
|
|
|
NM_001972.4(ELANE):c.583del (p.Ala195fs)
|
|
|
|
NM_001972.4(ELANE):c.602del (p.Asp201fs)
|
rs2035673569
|
|
|
NM_001972.4(ELANE):c.607G>A (p.Gly203Ser)
|
|
|
|
NM_001972.4(ELANE):c.622T>G (p.Cys208Gly)
|
rs2145149526
|
|
|
NM_001972.4(ELANE):c.641G>A (p.Gly214Glu)
|
rs1555710089
|
|
|
NM_001972.4(ELANE):c.661G>T (p.Gly221Ter)
|
rs2035675760
|
|
|
NM_001972.4(ELANE):c.674C>G (p.Ser225Ter)
|
|
|
|
NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe)
|
rs1057519321
|
|
|
NM_002016.2(FLG):c.10051_10054del (p.Asp3351fs)
|
rs746608568
|
|
|
NM_002016.2(FLG):c.10350C>A (p.Tyr3450Ter)
|
|
|
|
NM_002016.2(FLG):c.10459A>T (p.Arg3487Ter)
|
rs1396693199
|
|
|
NM_002016.2(FLG):c.10919C>G (p.Ser3640Ter)
|
|
|
|
NM_002016.2(FLG):c.10926del (p.Ile3642fs)
|
|
|
|
NM_002016.2(FLG):c.11048del (p.Gly3683fs)
|
rs1365780833
|
|
|
NM_002016.2(FLG):c.11203C>T (p.Gln3735Ter)
|
|
|
|
NM_002016.2(FLG):c.1217C>G (p.Ser406Ter)
|
|
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
|
NM_002016.2(FLG):c.1714C>T (p.Arg572Ter)
|
rs200601767
|
|
|
NM_002016.2(FLG):c.1739del (p.Gly580fs)
|
rs2101651357
|
|
|
NM_002016.2(FLG):c.2185C>T (p.Gln729Ter)
|
|
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
|
NM_002016.2(FLG):c.2767dup (p.Ser923fs)
|
|
|
|
NM_002016.2(FLG):c.2933C>A (p.Ser978Ter)
|
rs575855434
|
|
|
NM_002016.2(FLG):c.2955del (p.Arg986fs)
|
|
|
|
NM_002016.2(FLG):c.3037del (p.Ser1013fs)
|
|
|
|
NM_002016.2(FLG):c.3191G>A (p.Trp1064Ter)
|
|
|
|
NM_002016.2(FLG):c.3222_3225del (p.Ser1074fs)
|
rs745915174
|
|
|
NM_002016.2(FLG):c.3424del (p.Gln1142fs)
|
|
|
|
NM_002016.2(FLG):c.4162C>T (p.Arg1388Ter)
|
|
|
|
NM_002016.2(FLG):c.477dup (p.Glu160fs)
|
rs746683647
|
|
|
NM_002016.2(FLG):c.4785_4788del (p.Ser1595fs)
|
rs761519693
|
|
|
NM_002016.2(FLG):c.4925_4928del (p.Ser1642fs)
|
rs2101646027
|
|
|
NM_002016.2(FLG):c.5014C>T (p.Gln1672Ter)
|
|
|
|
NM_002016.2(FLG):c.5050_5051delinsA (p.Arg1684fs)
|
|
|
|
NM_002016.2(FLG):c.511G>T (p.Glu171Ter)
|
|
|
|
NM_002016.2(FLG):c.5198_5201del (p.Ser1733fs)
|
|
|
|
NM_002016.2(FLG):c.5383G>T (p.Glu1795Ter)
|
rs140424742
|
|
|
NM_002016.2(FLG):c.5799del (p.Arg1933fs)
|
|
|
|
NM_002016.2(FLG):c.6834_6838del (p.Ser2279fs)
|
|
|
|
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer)
|
rs578184315
|
|
|
NM_002016.2(FLG):c.7267_7268del (p.Gln2423fs)
|
rs760831749
|
|
|
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)
|
rs138726443
|
|
|
NM_002016.2(FLG):c.762_766del (p.Lys255fs)
|
|
|
|
NM_002016.2(FLG):c.7945del (p.Ser2649fs)
|
rs538406713
|
|
|
NM_002016.2(FLG):c.8885del (p.Gln2962fs)
|
rs1570897758
|
|
|
NM_002016.2(FLG):c.899_903del (p.Asp300fs)
|
rs1060499587
|
|
|
NM_002016.2(FLG):c.9033C>A (p.Tyr3011Ter)
|
|
|
|
NM_002016.2(FLG):c.967G>T (p.Gly323Ter)
|
|
|
|
NM_002047.4(GARS1):c.1015G>A (p.Gly339Arg)
|
rs2128134030
|
|
|
NM_002047.4(GARS1):c.643G>C (p.Asp215His)
|
rs1584026191
|
|
|
NM_002047.4(GARS1):c.998A>T (p.Glu333Val)
|
rs863224873
|
|
|
NM_002067.5(GNA11):c.446G>A (p.Arg149His)
|
|
|
|
NM_002067.5(GNA11):c.542G>A (p.Arg181Gln)
|
rs587777020
|
|
|
NM_002074.5(GNB1):c.154C>T (p.Arg52Trp)
|
rs2100858748
|
|
|
NM_002074.5(GNB1):c.158G>A (p.Gly53Glu)
|
rs1557898800
|
|
|
NM_002074.5(GNB1):c.183G>T (p.Met61Ile)
|
|
|
|
NM_002074.5(GNB1):c.217G>A (p.Ala73Thr)
|
|
|
|
NM_002074.5(GNB1):c.226G>A (p.Asp76Asn)
|
rs1646697327
|
|
|
NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)
|
rs1135401746
|
|
|
NM_002074.5(GNB1):c.230G>C (p.Gly77Ala)
|
rs1135401746
|
|
|
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)
|
rs869312823
|
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
|
NM_002074.5(GNB1):c.239T>G (p.Ile80Ser)
|
rs752746786
|
|
|
NM_002074.5(GNB1):c.296G>T (p.Trp99Leu)
|
|
|
|
NM_002074.5(GNB1):c.326G>A (p.Gly109Glu)
|
|
|
|
NM_002074.5(GNB1):c.487G>A (p.Asp163Asn)
|
rs2100546220
|
|
|
NM_002074.5(GNB1):c.496T>C (p.Cys166Arg)
|
rs2100546091
|
|
|
NM_002074.5(GNB1):c.498-2A>G
|
|
|
|
NM_002074.5(GNB1):c.814G>A (p.Gly272Arg)
|
|
|
|
NM_002074.5(GNB1):c.93_94del (p.Gln32fs)
|
|
|
|
NM_002074.5(GNB1):c.976G>A (p.Ala326Thr)
|
rs869312826
|
|
|
NM_002087.4(GRN):c.264+1G>A
|
rs1567885728
|
|
|
NM_002160.4(TNC):c.2941G>A (p.Ala981Thr)
|
|
|
|
NM_002160.4(TNC):c.323G>A (p.Arg108His)
|
|
|
|
NM_002296.4(LBR):c.235C>T (p.Arg79Ter)
|
|
|
|
NM_002335.4(LRP5):c.1136A>C (p.Asp379Ala)
|
rs2153153124
|
|
|
NM_002335.4(LRP5):c.1264G>A (p.Ala422Thr)
|
|
|
|
NM_002335.4(LRP5):c.1293C>G (p.Tyr431Ter)
|
|
|
|
NM_002335.4(LRP5):c.1378G>A (p.Glu460Lys)
|
|
|
|
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)
|
rs121908664
|
|
|
NM_002335.4(LRP5):c.2268_2293del (p.Trp757fs)
|
|
|
|
NM_002335.4(LRP5):c.2626G>A (p.Gly876Ser)
|
|
|
|
NM_002335.4(LRP5):c.3236+2T>G
|
rs1460396716
|
|
|
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp)
|
rs141178995
|
|
|
NM_002335.4(LRP5):c.3709C>T (p.Arg1237Trp)
|
|
|
|
NM_002335.4(LRP5):c.3863A>G (p.Asp1288Gly)
|
|
|
|
NM_002335.4(LRP5):c.4191_4192dup (p.Phe1398fs)
|
|
|
|
NM_002335.4(LRP5):c.4263del (p.Phe1422fs)
|
|
|
|
NM_002335.4(LRP5):c.593A>G (p.Asn198Ser)
|
rs1085307078
|
|
|
NM_002336.3(LRP6):c.458A>G (p.Tyr153Cys)
|
rs2137042982
|
|
|
NM_002354.3(EPCAM):c.904-1_904del
|
rs2103770769
|
|
|
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro)
|
rs2153074771
|
|
|
NM_002397.5(MEF2C):c.104T>G (p.Leu35Arg)
|
rs2153074771
|
|
|
NM_002397.5(MEF2C):c.106A>C (p.Ser36Arg)
|
|
|
|
NM_002397.5(MEF2C):c.134T>C (p.Leu45Pro)
|
|
|
|
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn)
|
rs1799660837
|
|
|
NM_002397.5(MEF2C):c.170A>G (p.Tyr57Cys)
|
rs2153074319
|
|
|
NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg)
|
rs1554139743
|
|
|
NM_002397.5(MEF2C):c.17T>A (p.Ile6Asn)
|
rs2153222922
|
|
|
NM_002397.5(MEF2C):c.194T>G (p.Val65Gly)
|
rs1580988074
|
|
|
NM_002397.5(MEF2C):c.1A>G (p.Met1Val)
|
rs1432291994
|
|
|
NM_002397.5(MEF2C):c.216C>G (p.Tyr72Ter)
|
|
|
|
NM_002397.5(MEF2C):c.22A>C (p.Ile8Leu)
|
|
|
|
NM_002397.5(MEF2C):c.258+5G>C
|
rs2153073717
|
|
|
NM_002397.5(MEF2C):c.258G>A (p.Glu86=)
|
rs796052724
|
|
|
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr)
|
rs545185248
|
|
|
NM_002397.5(MEF2C):c.402+146C>A
|
rs1358670337
|
|
|
NM_002397.5(MEF2C):c.402+184del
|
rs2152669802
|
|
|
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys)
|
rs796052728
|
|
|
NM_002397.5(MEF2C):c.44G>A (p.Arg15His)
|
rs1202957297
|
|
|
NM_002397.5(MEF2C):c.532C>T (p.Gln178Ter)
|
rs1772953161
|
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
|
|
NM_002397.5(MEF2C):c.637+1G>C
|
rs2152497250
|
|
|
NM_002397.5(MEF2C):c.637+1G>T
|
|
|
|
NM_002397.5(MEF2C):c.638-1G>A
|
rs2152281284
|
|
|
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg)
|
rs797045053
|
|
|
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys)
|
rs869312698
|
|
|
NM_002397.5(MEF2C):c.728dup (p.Met244fs)
|
|
|
|
NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)
|
|
|
|
NM_002397.5(MEF2C):c.80G>A (p.Gly27Glu)
|
|
|
|
NM_002397.5(MEF2C):c.810+2T>C
|
|
|
|
NM_002397.5(MEF2C):c.835-2A>G
|
|
|
|
NM_002397.5(MEF2C):c.89A>C (p.Lys30Thr)
|
|
|
|
NM_002470.4(MYH3):c.1624C>A (p.Pro542Thr)
|
rs2142404938
|
|
|
NM_002470.4(MYH3):c.4405dup (p.Glu1469fs)
|
rs1597482824
|
|
|
NM_002470.4(MYH3):c.484G>A (p.Ala162Thr)
|
|
|
|
NM_002470.4(MYH3):c.703A>G (p.Lys235Glu)
|
|
|
|
NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del)
|
rs1555527166
|
|
|
NM_002470.4(MYH3):c.782C>T (p.Ser261Phe)
|
rs1597490381
|
|
|
NM_002470.4(MYH3):c.859T>G (p.Phe287Val)
|
rs1567560080
|
|
|
NM_002470.4(MYH3):c.998C>G (p.Thr333Arg)
|
rs1567559562
|
|
|
NM_002473.6(MYH9):c.2114G>A (p.Arg705His)
|
rs80338828
|
|
|
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)
|
rs1184544985
|
|
|
NM_002473.6(MYH9):c.280G>A (p.Glu94Lys)
|
|
|
|
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)
|
rs80338831
|
|
|
NM_002473.6(MYH9):c.4546G>A (p.Val1516Met)
|
rs727503284
|
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
|
NM_002485.5(NBN):c.46_49del (p.Tyr16fs)
|
rs1812139426
|
|
|
NM_002485.5(NBN):c.584G>A (p.Ser195Asn)
|
rs1811862674
|
|
|
NM_002522.4(NPTX1):c.1261_1287del (p.Thr421_Arg429del)
|
|
|
|
NM_002522.4(NPTX1):c.539G>T (p.Arg180Leu)
|
|
|
|
NM_002677.5(PMP2):c.128T>G (p.Ile43Ser)
|
|
|
|
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr)
|
rs1563518388
|
|
|
NM_002677.5(PMP2):c.167G>T (p.Ser56Ile)
|
|
|
|
NM_002693.3(POLG):c.1023+1G>C
|
|
|
|
NM_002693.3(POLG):c.1157G>C (p.Arg386Pro)
|
|
|
|
NM_002693.3(POLG):c.1170+1G>C
|
|
|
|
NM_002693.3(POLG):c.1198G>A (p.Val400Met)
|
rs529639381
|
|
|
NM_002693.3(POLG):c.130C>T (p.Gln44Ter)
|
|
|
|
NM_002693.3(POLG):c.1552del (p.Ala518fs)
|
|
|
|
NM_002693.3(POLG):c.1575_1578del (p.Met525fs)
|
rs1253517114
|
|
|
NM_002693.3(POLG):c.1646del (p.Leu549fs)
|
rs1555453538
|
|
|
NM_002693.3(POLG):c.1663del (p.Thr555fs)
|
|
|
|
NM_002693.3(POLG):c.1716G>A (p.Trp572Ter)
|
rs767709505
|
|
|
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp)
|
rs139717885
|
|
|
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)
|
|
|
|
NM_002693.3(POLG):c.1949+1G>C
|
|
|
|
NM_002693.3(POLG):c.2185C>T (p.Gln729Ter)
|
|
|
|
NM_002693.3(POLG):c.2209G>A (p.Gly737Arg)
|
rs121918054
|
|
|
NM_002693.3(POLG):c.2209G>T (p.Gly737Ter)
|
|
|
|
NM_002693.3(POLG):c.2287G>A (p.Gly763Arg)
|
|
|
|
NM_002693.3(POLG):c.2479_2480+8del
|
|
|
|
NM_002693.3(POLG):c.2480+1G>T
|
|
|
|
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln)
|
rs1356604153
|
|
|
NM_002693.3(POLG):c.2678C>T (p.Ser893Phe)
|
rs1596352300
|
|
|
NM_002693.3(POLG):c.2768G>A (p.Gly923Asp)
|
|
|
|
NM_002693.3(POLG):c.2884dup (p.Ala962fs)
|
rs1252078081
|
|
|
NM_002693.3(POLG):c.2902C>G (p.Gln968Glu)
|
|
|
|
NM_002693.3(POLG):c.2981+2T>G
|
rs775260762
|
|
|
NM_002693.3(POLG):c.3014_3057del (p.Val1005fs)
|
rs886041276
|
|
|
NM_002693.3(POLG):c.3104+2_3104+5del
|
rs761664802
|
|
|
NM_002693.3(POLG):c.3104+3A>C
|
|
|
|
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)
|
rs121918049
|
|
|
NM_002693.3(POLG):c.3229dup (p.Cys1077fs)
|
|
|
|
NM_002693.3(POLG):c.3430_3433dup (p.Asp1145fs)
|
rs1567185048
|
|
|
NM_002693.3(POLG):c.3482+2T>C
|
rs1466226819
|
|
|
NM_002693.3(POLG):c.3514_3517dup (p.Leu1173Ter)
|
|
|
|
NM_002693.3(POLG):c.3601del (p.Ser1201fs)
|
rs781311846
|
|
|
NM_002693.3(POLG):c.3626_3629dup (p.Tyr1210Ter)
|
|
|
|
NM_002693.3(POLG):c.45dup (p.Pro16fs)
|
|
|
|
NM_002693.3(POLG):c.590_596del (p.Phe197fs)
|
|
|
|
NM_002693.3(POLG):c.660-2A>G
|
rs2141806882
|
|
|
NM_002693.3(POLG):c.814del (p.Ser272fs)
|
|
|
|
NM_002693.3(POLG):c.824G>A (p.Arg275Gln)
|
rs1555453950
|
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
|
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp)
|
rs1290567099
|
|
|
NM_002693.3(POLG):c.880_881del (p.Thr294fs)
|
|
|
|
NM_002693.3(POLG):c.967C>T (p.Gln323Ter)
|
|
|
|
NM_002700.3(POU4F3):c.130_136del (p.Asn44fs)
|
|
|
|
NM_002700.3(POU4F3):c.296_297dup (p.Pro100fs)
|
|
|
|
NM_002700.3(POU4F3):c.337C>T (p.Gln113Ter)
|
|
|
|
NM_002700.3(POU4F3):c.371C>A (p.Ser124Ter)
|
|
|
|
NM_002700.3(POU4F3):c.374C>T (p.Pro125Leu)
|
rs1561590396
|
|
|
NM_002700.3(POU4F3):c.413C>A (p.Ser138Ter)
|
|
|
|
NM_002700.3(POU4F3):c.479del (p.Gly160fs)
|
|
|
|
NM_002700.3(POU4F3):c.488del (p.His163fs)
|
|
|
|
NM_002700.3(POU4F3):c.494_497del (p.His165fs)
|
|
|
|
NM_002700.3(POU4F3):c.592C>G (p.Arg198Gly)
|
|
|
|
NM_002700.3(POU4F3):c.608_610dup (p.Val203_Thr204insMet)
|
|
|
|
NM_002700.3(POU4F3):c.631G>C (p.Ala211Pro)
|
|
|
|
NM_002700.3(POU4F3):c.635T>C (p.Leu212Pro)
|
rs1760430376
|
|
|
NM_002700.3(POU4F3):c.671G>A (p.Ser224Asn)
|
|
|
|
NM_002700.3(POU4F3):c.696G>T (p.Glu232Asp)
|
rs1760431636
|
|
|
NM_002700.3(POU4F3):c.743T>C (p.Leu248Pro)
|
|
|
|
NM_002700.3(POU4F3):c.879C>G (p.Phe293Leu)
|
|
|
|
NM_002700.3(POU4F3):c.952G>A (p.Val318Met)
|
rs2126962041
|
|
|
NM_002700.3(POU4F3):c.97C>T (p.Arg33Ter)
|
|
|
|
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys)
|
rs1555815121
|
|
|
NM_002734.5(PRKAR1A):c.1075C>G (p.Leu359Val)
|
rs2143391287
|
|
|
NM_002734.5(PRKAR1A):c.1142_1145del (p.Val381fs)
|
rs2143392408
|
|
|
NM_002734.5(PRKAR1A):c.178-2A>T
|
|
|
|
NM_002734.5(PRKAR1A):c.179del (p.Glu60fs)
|
rs2085656304
|
|
|
NM_002734.5(PRKAR1A):c.348+1G>C
|
rs281864797
|
|
|
NM_002734.5(PRKAR1A):c.441-2A>G
|
|
|
|
NM_002734.5(PRKAR1A):c.549+1G>A
|
|
|
|
NM_002734.5(PRKAR1A):c.854A>G (p.Gln285Arg)
|
rs1555814719
|
|
|
NM_002734.5(PRKAR1A):c.891+1G>A
|
|
|
|
NM_002734.5(PRKAR1A):c.891+3A>G
|
rs281864799
|
|
|
NM_002734.5(PRKAR1A):c.892-26_905del
|
rs1568702458
|
|
|
NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser)
|
rs797045900
|
|
|
NM_002739.5(PRKCG):c.187G>C (p.Gly63Arg)
|
|
|
|
NM_002739.5(PRKCG):c.1928T>G (p.Phe643Cys)
|
rs386134172
|
|
|
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr)
|
rs1555806333
|
|
|
NM_002739.5(PRKCG):c.220C>A (p.His74Asn)
|
|
|
|
NM_002739.5(PRKCG):c.220C>T (p.His74Tyr)
|
rs2122976509
|
|
|
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)
|
rs1599938631
|
|
|
NM_002739.5(PRKCG):c.302A>G (p.His101Arg)
|
rs2068656783
|
|
|
NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys)
|
rs2122988484
|
|
|
NM_002739.5(PRKCG):c.347A>G (p.His116Arg)
|
rs2068657131
|
|
|
NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe)
|
rs2122988567
|
|
|
NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg)
|
rs386134164
|
|
|
NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys)
|
rs1599943097
|
|
|
NM_002739.5(PRKCG):c.380A>C (p.Gln127Pro)
|
rs121918515
|
|
|
NM_002739.5(PRKCG):c.381G>T (p.Gln127His)
|
rs973767996
|
|
|
NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg)
|
rs386134166
|
|
|
NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro)
|
rs2122988688
|
|
|
NM_002739.5(PRKCG):c.457G>C (p.Asp153His)
|
|
|
|
NM_002739.5(PRKCG):c.466G>A (p.Glu156Lys)
|
rs1304701232
|
|
|
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp)
|
rs1471641294
|
|
|
NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu)
|
rs397507536
|
|
|
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)
|
rs397507539
|
|
|
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala)
|
rs397507539
|
|
|
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)
|
rs397507540
|
|
|
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)
|
rs397507543
|
|
|
NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr)
|
rs1052382672
|
|
|
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)
|
rs397516801
|
|
|
NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)
|
|
|
|
NM_002834.5(PTPN11):c.2T>G (p.Met1Arg)
|
|
|
|
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)
|
rs2038154558
|
|
|
NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)
|
|
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
|
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)
|
rs397507531
|
|
|
NM_002834.5(PTPN11):c.92C>G (p.Ala31Gly)
|
rs2037994433
|
|
|
NM_002860.4(ALDH18A1):c.1152+1G>A
|
|
|
|
NM_002860.4(ALDH18A1):c.1468-2A>C
|
|
|
|
NM_002860.4(ALDH18A1):c.191G>A (p.Arg64His)
|
|
|
|
NM_002860.4(ALDH18A1):c.1994G>A (p.Arg665Gln)
|
|
|
|
NM_002860.4(ALDH18A1):c.232G>A (p.Gly78Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.377G>A (p.Arg126His)
|
|
|
|
NM_002860.4(ALDH18A1):c.408C>A (p.Ser136Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.809-1G>A
|
rs1202802893
|
|
|
NM_002860.4(ALDH18A1):c.933+1G>A
|
rs2139593958
|
|
|
NM_002878.3(RAD51D):c.739-?_*1161del
|
|
|
|
NM_002878.4(RAD51D):c.131_144+24del
|
rs1064795716
|
|
|
NM_002878.4(RAD51D):c.141C>G (p.Tyr47Ter)
|
rs771077929
|
|
|
NM_002878.4(RAD51D):c.144+1G>T
|
rs2142477107
|
|
|
NM_002878.4(RAD51D):c.144+1_144+11delinsCC
|
rs1555570397
|
|
|
NM_002878.4(RAD51D):c.144+1dup
|
|
|
|
NM_002878.4(RAD51D):c.145-1G>A
|
|
|
|
NM_002878.4(RAD51D):c.145-2A>G
|
rs2142474941
|
|
|
NM_002878.4(RAD51D):c.145-2_163del
|
|
|
|
NM_002878.4(RAD51D):c.1A>G (p.Met1Val)
|
rs561425038
|
|
|
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu)
|
rs561425038
|
|
|
NM_002878.4(RAD51D):c.1_82del (p.Met1fs)
|
rs2142480074
|
|
|
NM_002878.4(RAD51D):c.216_218del (p.Tyr72_Glu73delinsTer)
|
|
|
|
NM_002878.4(RAD51D):c.263+1G>A
|
rs1555570242
|
|
|
NM_002878.4(RAD51D):c.263+1G>T
|
|
|
|
NM_002878.4(RAD51D):c.263+2T>C
|
rs200564819
|
|
|
NM_002878.4(RAD51D):c.264-1G>A
|
rs2091622013
|
|
|
NM_002878.4(RAD51D):c.264-1G>T
|
rs2091622013
|
|
|
NM_002878.4(RAD51D):c.264-2A>C
|
rs1555568514
|
|
|
NM_002878.4(RAD51D):c.264-2A>G
|
rs1555568514
|
|
|
NM_002878.4(RAD51D):c.266_267del (p.Leu89fs)
|
rs2142437431
|
|
|
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs)
|
rs753862052
|
|
|
NM_002878.4(RAD51D):c.294_295del (p.Thr99fs)
|
|
|
|
NM_002878.4(RAD51D):c.2T>G (p.Met1Arg)
|
rs1064794619
|
|
|
NM_002878.4(RAD51D):c.2dup (p.Met1fs)
|
rs772306012
|
|
|
NM_002878.4(RAD51D):c.330dup (p.Ser111Ter)
|
rs786202434
|
|
|
NM_002878.4(RAD51D):c.345+2T>C
|
rs876659394
|
|
|
NM_002878.4(RAD51D):c.345G>A (p.Gln115=)
|
rs1555568469
|
|
|
NM_002878.4(RAD51D):c.345G>C (p.Gln115His)
|
rs1555568469
|
|
|
NM_002878.4(RAD51D):c.346-1G>C
|
rs1555568386
|
|
|
NM_002878.4(RAD51D):c.346-2A>G
|
|
|
|
NM_002878.4(RAD51D):c.377_480+205del
|
|
|
|
NM_002878.4(RAD51D):c.385C>T (p.Gln129Ter)
|
rs1597862732
|
|
|
NM_002878.4(RAD51D):c.388C>T (p.Gln130Ter)
|
|
|
|
NM_002878.4(RAD51D):c.394del (p.Val132fs)
|
rs2091614664
|
|
|
NM_002878.4(RAD51D):c.432_433del (p.Arg145fs)
|
|
|
|
NM_002878.4(RAD51D):c.463C>T (p.Gln155Ter)
|
rs1555568293
|
|
|
NM_002878.4(RAD51D):c.475del (p.Glu159fs)
|
rs1597862493
|
|
|
NM_002878.4(RAD51D):c.480+1G>A
|
rs1597862471
|
|
|
NM_002878.4(RAD51D):c.480+1G>T
|
rs1597862471
|
|
|
NM_002878.4(RAD51D):c.480+2T>C
|
rs2142432010
|
|
|
NM_002878.4(RAD51D):c.481-1G>A
|
rs2091605445
|
|
|
NM_002878.4(RAD51D):c.481-1G>T
|
|
|
|
NM_002878.4(RAD51D):c.481-2A>G
|
rs2091605461
|
|
|
NM_002878.4(RAD51D):c.51_52delinsG (p.Ile17fs)
|
|
|
|
NM_002878.4(RAD51D):c.576+1G>T
|
rs781161543
|
|
|
NM_002878.4(RAD51D):c.576+2T>G
|
|
|
|
NM_002878.4(RAD51D):c.577-2A>G
|
rs1555567649
|
|
|
NM_002878.4(RAD51D):c.580del (p.Thr194fs)
|
rs2142421182
|
|
|
NM_002878.4(RAD51D):c.584del (p.Gly195fs)
|
|
|
|
NM_002878.4(RAD51D):c.598del (p.Thr199_Val200insTer)
|
rs2142420962
|
|
|
NM_002878.4(RAD51D):c.620C>G (p.Ser207Trp)
|
rs370228071
|
|
|
NM_002878.4(RAD51D):c.623dup (p.Thr209fs)
|
rs1555567610
|
|
|
NM_002878.4(RAD51D):c.641dup (p.Leu215fs)
|
rs1409088398
|
|
|
NM_002878.4(RAD51D):c.661_662del (p.Arg221fs)
|
|
|
|
NM_002878.4(RAD51D):c.667+1G>A
|
|
|
|
NM_002878.4(RAD51D):c.667+1G>T
|
rs1597858666
|
|
|
NM_002878.4(RAD51D):c.667+2T>C
|
|
|
|
NM_002878.4(RAD51D):c.667+2_667+23del
|
rs1597858626
|
|
|
NM_002878.4(RAD51D):c.668-1G>A
|
rs2142418872
|
|
|
NM_002878.4(RAD51D):c.668-2A>C
|
rs1567726325
|
|
|
NM_002878.4(RAD51D):c.668-2_670del
|
rs2091561681
|
|
|
NM_002878.4(RAD51D):c.668-4_670delinsCC
|
|
|
|
NM_002878.4(RAD51D):c.671T>A (p.Leu224Ter)
|
rs1567726305
|
|
|
NM_002878.4(RAD51D):c.694_697dup (p.Glu233fs)
|
rs2142418516
|
|
|
NM_002878.4(RAD51D):c.694dup (p.Arg232fs)
|
|
|
|
NM_002878.4(RAD51D):c.6_13dup (p.Arg5fs)
|
rs1555570506
|
|
|
NM_002878.4(RAD51D):c.728dup (p.Met243fs)
|
rs1060502958
|
|
|
NM_002878.4(RAD51D):c.738+1G>A
|
rs1567726124
|
|
|
NM_002878.4(RAD51D):c.738+1G>T
|
|
|
|
NM_002878.4(RAD51D):c.738+2T>C
|
|
|
|
NM_002878.4(RAD51D):c.740_741dup (p.Thr248Ter)
|
rs1555567197
|
|
|
NM_002878.4(RAD51D):c.752del (p.Ile251fs)
|
rs1597856236
|
|
|
NM_002878.4(RAD51D):c.763_764del (p.Arg255fs)
|
|
|
|
NM_002878.4(RAD51D):c.766del (p.Asp256fs)
|
rs1597856162
|
|
|
NM_002878.4(RAD51D):c.772_778del (p.Gly258fs)
|
rs1064795045
|
|
|
NM_002878.4(RAD51D):c.774dup (p.Arg259fs)
|
rs1555567170
|
|
|
NM_002878.4(RAD51D):c.787_791del (p.Ala263fs)
|
|
|
|
NM_002878.4(RAD51D):c.801del (p.Trp268fs)
|
rs2142411904
|
|
|
NM_002878.4(RAD51D):c.816dup (p.Ser273fs)
|
|
|
|
NM_002878.4(RAD51D):c.81del (p.Val28fs)
|
rs1064793952
|
|
|
NM_002878.4(RAD51D):c.82+1G>A
|
rs786202788
|
|
|
NM_002878.4(RAD51D):c.82+1G>C
|
|
|
|
NM_002878.4(RAD51D):c.82+2T>G
|
rs1597878498
|
|
|
NM_002878.4(RAD51D):c.820dup (p.Thr274fs)
|
|
|
|
NM_002878.4(RAD51D):c.823_841dup (p.Ile281fs)
|
|
|
|
NM_002878.4(RAD51D):c.82G>C (p.Val28Leu)
|
|
|
|
NM_002878.4(RAD51D):c.83-1G>A
|
rs2091789413
|
|
|
NM_002878.4(RAD51D):c.83-2A>G
|
rs2091789428
|
|
|
NM_002878.4(RAD51D):c.854del (p.Gly285fs)
|
rs1597855883
|
|
|
NM_002878.4(RAD51D):c.857del (p.Ala286fs)
|
rs2142411343
|
|
|
NM_002878.4(RAD51D):c.85del (p.Val29fs)
|
rs1057517586
|
|
|
NM_002878.4(RAD51D):c.861dup (p.Gly288fs)
|
|
|
|
NM_002878.4(RAD51D):c.864dup (p.Gly289fs)
|
|
|
|
NM_002878.4(RAD51D):c.886del (p.Ala296fs)
|
rs761589376
|
|
|
NM_002878.4(RAD51D):c.896_*505del597 (p.Ser299_Ter329delinsXaa)
|
|
|
|
NM_002878.4(RAD51D):c.896_*505del597insT (p.Ser299fs)
|
|
|
|
NM_002878.4(RAD51D):c.898del (p.Arg300fs)
|
rs786202251
|
|
|
NM_002878.4(RAD51D):c.901C>T (p.Gln301Ter)
|
rs1060502959
|
|
|
NM_002878.4(RAD51D):c.904-2A>T
|
rs1403784434
|
|
|
NM_002878.4(RAD51D):c.94_95del (p.Val32fs)
|
rs786203137
|
|
|
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala)
|
rs397516813
|
|
|
NM_002880.4(RAF1):c.505G>C (p.Gly169Arg)
|
rs886039607
|
|
|
NM_002880.4(RAF1):c.773C>G (p.Thr258Arg)
|
rs1575573330
|
|
|
NM_002907.4(RECQL):c.1548dup (p.Asp517Ter)
|
rs1942965081
|
|
|
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter)
|
rs1597229404
|
|
|
NM_002968.3(SALL1):c.2129del (p.Ile710fs)
|
rs2143442678
|
|
|
NM_002968.3(SALL1):c.2287dup (p.Arg763fs)
|
rs1597229151
|
|
|
NM_002968.3(SALL1):c.252del (p.Phe85fs)
|
|
|
|
NM_002968.3(SALL1):c.269dup (p.Pro91fs)
|
rs2143452445
|
|
|
NM_002968.3(SALL1):c.2801del (p.Ser934fs)
|
rs1597228490
|
|
|
NM_002968.3(SALL1):c.3160C>T (p.Arg1054Ter)
|
rs864321635
|
|
|
NM_002968.3(SALL1):c.3381del (p.Arg1128fs)
|
rs2143436744
|
|
|
NM_002968.3(SALL1):c.3856C>T (p.Gln1286Ter)
|
|
|
|
NM_002968.3(SALL1):c.601C>T (p.Gln201Ter)
|
rs2143450145
|
|
|
NM_002968.3(SALL1):c.724del (p.His242fs)
|
|
|
|
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)
|
rs104894537
|
|
|
NM_002968.3(SALL1):c.871C>T (p.Gln291Ter)
|
rs1962424706
|
|
|
NM_003002.4(SDHD):c.148C>G (p.His50Asp)
|
rs779249550
|
|
|
NM_003002.4(SDHD):c.169+5G>C
|
rs1865657237
|
|
|
NM_003002.4(SDHD):c.275A>T (p.Asp92Val)
|
rs786205436
|
|
|
NM_003002.4(SDHD):c.304C>A (p.His102Asn)
|
rs786202403
|
|
|
NM_003002.4(SDHD):c.304C>T (p.His102Tyr)
|
rs786202403
|
|
|
NM_003002.4(SDHD):c.305A>C (p.His102Pro)
|
rs104894302
|
|
|
NM_003002.4(SDHD):c.315-2A>G
|
rs2135277333
|
|
|
NM_003002.4(SDHD):c.340T>C (p.Tyr114His)
|
rs876659276
|
|
|
NM_003002.4(SDHD):c.413G>A (p.Gly138Glu)
|
rs1401695686
|
|
|
NM_003002.4(SDHD):c.413G>T (p.Gly138Val)
|
rs1401695686
|
|
|
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)
|
rs80338847
|
|
|
NM_003002.4(SDHD):c.44_52+24del
|
rs1865621296
|
|
|
NM_003002.4(SDHD):c.53-1_53delinsTT
|
rs1566691921
|
|
|
NM_003002.4(SDHD):c.53-2A>C
|
|
|
|
NM_003011.4(SET):c.103_104del (p.His34_Ile35insTer)
|
|
|
|
NM_003011.4(SET):c.138dup (p.Glu47Ter)
|
|
|
|
NM_003011.4(SET):c.219del (p.Glu73fs)
|
|
|
|
NM_003011.4(SET):c.244T>G (p.Trp82Gly)
|
rs1554776500
|
|
|
NM_003011.4(SET):c.340_341del (p.Glu114fs)
|
rs1861593395
|
|
|
NM_003011.4(SET):c.573del (p.Trp192fs)
|
rs1861625938
|
|
|
NM_003070.5(SMARCA2):c.1258C>T (p.Arg420Cys)
|
|
|
|
NM_003070.5(SMARCA2):c.1553T>C (p.Ile518Thr)
|
rs1820558146
|
|
|
NM_003070.5(SMARCA2):c.1600G>T (p.Asp534Tyr)
|
rs863224922
|
|
|
NM_003070.5(SMARCA2):c.2254G>A (p.Gly752Arg)
|
rs1821581008
|
|
|
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp)
|
rs1554623112
|
|
|
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu)
|
rs1554623112
|
|
|
NM_003070.5(SMARCA2):c.2531G>A (p.Arg844Gln)
|
|
|
|
NM_003070.5(SMARCA2):c.2552A>G (p.Asp851Gly)
|
rs886041045
|
|
|
NM_003070.5(SMARCA2):c.2648C>A (p.Pro883Gln)
|
rs281875188
|
|
|
NM_003070.5(SMARCA2):c.2736G>T (p.Trp912Cys)
|
|
|
|
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His)
|
rs1586692551
|
|
|
NM_003070.5(SMARCA2):c.2831C>A (p.Pro944Gln)
|
|
|
|
NM_003070.5(SMARCA2):c.2966C>A (p.Thr989Lys)
|
|
|
|
NM_003070.5(SMARCA2):c.2966C>G (p.Thr989Arg)
|
|
|
|
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro)
|
rs281875197
|
|
|
NM_003070.5(SMARCA2):c.3441C>A (p.Asp1147Glu)
|
|
|
|
NM_003070.5(SMARCA2):c.3451C>T (p.His1151Tyr)
|
|
|
|
NM_003070.5(SMARCA2):c.3457-2A>T
|
rs1823192606
|
|
|
NM_003070.5(SMARCA2):c.3482A>G (p.His1161Arg)
|
rs863224921
|
|
|
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys)
|
rs1057518414
|
|
|
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His)
|
rs281875186
|
|
|
NM_003070.5(SMARCA2):c.3493C>A (p.Gln1165Lys)
|
rs797045976
|
|
|
NM_003070.5(SMARCA2):c.3562G>A (p.Ala1188Thr)
|
rs281875196
|
|
|
NM_003070.5(SMARCA2):c.3587A>C (p.Gln1196Pro)
|
rs1586721515
|
|
|
NM_003070.5(SMARCA2):c.3599A>C (p.Gln1200Pro)
|
rs1823198138
|
|
|
NM_003070.5(SMARCA2):c.3962C>T (p.Thr1321Met)
|
rs2130626814
|
|
|
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)
|
rs2086534839
|
|
|
NM_003072.5(SMARCA4):c.1352G>T (p.Arg451Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1427T>G (p.Leu476Arg)
|
rs2145937134
|
|
|
NM_003072.5(SMARCA4):c.1462G>A (p.Glu488Lys)
|
rs2145938426
|
|
|
NM_003072.5(SMARCA4):c.1646G>T (p.Arg549Leu)
|
rs2145970607
|
|
|
NM_003072.5(SMARCA4):c.1658T>G (p.Leu553Arg)
|
rs2145971047
|
|
|
NM_003072.5(SMARCA4):c.1702G>C (p.Val568Leu)
|
rs1431755388
|
|
|
NM_003072.5(SMARCA4):c.1947_2001+3del
|
|
|
|
NM_003072.5(SMARCA4):c.2453G>A (p.Trp818Ter)
|
rs2146359668
|
|
|
NM_003072.5(SMARCA4):c.2506-2A>G
|
|
|
|
NM_003072.5(SMARCA4):c.2525G>A (p.Arg842Gln)
|
rs2146373452
|
|
|
NM_003072.5(SMARCA4):c.2647G>A (p.Gly883Ser)
|
rs1568486679
|
|
|
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys)
|
rs281875227
|
|
|
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val)
|
rs2146416371
|
|
|
NM_003072.5(SMARCA4):c.2678T>G (p.Leu893Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met)
|
rs1600278307
|
|
|
NM_003072.5(SMARCA4):c.2738C>T (p.Pro913Leu)
|
rs778175819
|
|
|
NM_003072.5(SMARCA4):c.2747A>G (p.Asn916Ser)
|
rs2146419846
|
|
|
NM_003072.5(SMARCA4):c.2777A>G (p.Asn926Ser)
|
rs1555778797
|
|
|
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg)
|
rs1060499936
|
|
|
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.3068A>G (p.Glu1023Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp)
|
rs770014321
|
|
|
NM_003072.5(SMARCA4):c.3139A>C (p.Asn1047His)
|
rs2146497910
|
|
|
NM_003072.5(SMARCA4):c.3275T>G (p.Leu1092Arg)
|
rs2146543069
|
|
|
NM_003072.5(SMARCA4):c.3476G>C (p.Gly1159Ala)
|
rs2146600868
|
|
|
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val)
|
rs1600388982
|
|
|
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His)
|
rs770680174
|
|
|
NM_003072.5(SMARCA4):c.3712T>G (p.Ser1238Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.3730C>T (p.Arg1244Cys)
|
rs2146654092
|
|
|
NM_003072.5(SMARCA4):c.3734C>G (p.Ala1245Gly)
|
rs797045984
|
|
|
NM_003072.5(SMARCA4):c.3818A>G (p.His1273Arg)
|
rs1600393629
|
|
|
NM_003072.5(SMARCA4):c.4213C>T (p.Arg1405Trp)
|
rs1057518049
|
|
|
NM_003073.5(SMARCB1):c.1070C>G (p.Thr357Arg)
|
rs1555881567
|
|
|
NM_003073.5(SMARCB1):c.1084_1086del (p.Glu362del)
|
rs2146042583
|
|
|
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu)
|
rs797045989
|
|
|
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn)
|
rs1568963037
|
|
|
NM_003073.5(SMARCB1):c.1096C>G (p.Arg366Gly)
|
rs886039520
|
|
|
NM_003073.5(SMARCB1):c.1096C>T (p.Arg366Cys)
|
rs886039520
|
|
|
NM_003073.5(SMARCB1):c.10del (p.Met4fs)
|
|
|
|
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His)
|
rs398122368
|
|
|
NM_003073.5(SMARCB1):c.1120C>T (p.Arg374Trp)
|
rs1568963596
|
|
|
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)
|
rs1057517825
|
|
|
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)
|
rs1601405064
|
|
|
NM_003073.5(SMARCB1):c.602G>A (p.Arg201Gln)
|
rs1555877287
|
|
|
NM_003073.5(SMARCB1):c.796-1G>A
|
rs2146026614
|
|
|
NM_003073.5(SMARCB1):c.812G>A (p.Gly271Glu)
|
rs2030318562
|
|
|
NM_003073.5(SMARCB1):c.986+2T>C
|
rs2030331202
|
|
|
NM_003108.4(SOX11):c.1097del (p.Ser366fs)
|
|
|
|
NM_003108.4(SOX11):c.1135_1150del (p.Gln379fs)
|
|
|
|
NM_003108.4(SOX11):c.1148del (p.Gly383fs)
|
|
|
|
NM_003108.4(SOX11):c.1216del (p.Ser406fs)
|
rs1572217107
|
|
|
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
|
|
|
|
NM_003108.4(SOX11):c.146T>G (p.Ile49Ser)
|
|
|
|
NM_003108.4(SOX11):c.151C>G (p.Arg51Gly)
|
|
|
|
NM_003108.4(SOX11):c.151C>T (p.Arg51Trp)
|
rs2103276324
|
|
|
NM_003108.4(SOX11):c.152G>A (p.Arg51Gln)
|
rs2103276330
|
|
|
NM_003108.4(SOX11):c.152G>C (p.Arg51Pro)
|
|
|
|
NM_003108.4(SOX11):c.152G>T (p.Arg51Leu)
|
|
|
|
NM_003108.4(SOX11):c.155C>T (p.Pro52Leu)
|
|
|
|
NM_003108.4(SOX11):c.157A>G (p.Met53Val)
|
|
|
|
NM_003108.4(SOX11):c.158T>G (p.Met53Arg)
|
|
|
|
NM_003108.4(SOX11):c.159G>A (p.Met53Ile)
|
|
|
|
NM_003108.4(SOX11):c.159G>T (p.Met53Ile)
|
|
|
|
NM_003108.4(SOX11):c.160A>G (p.Asn54Asp)
|
|
|
|
NM_003108.4(SOX11):c.167T>G (p.Phe56Cys)
|
rs2103276337
|
|
|
NM_003108.4(SOX11):c.168C>G (p.Phe56Leu)
|
rs2103276338
|
|
|
NM_003108.4(SOX11):c.170T>C (p.Met57Thr)
|
rs2103276340
|
|
|
NM_003108.4(SOX11):c.190C>A (p.Arg64Ser)
|
|
|
|
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
|
|
|
|
NM_003108.4(SOX11):c.191G>C (p.Arg64Pro)
|
|
|
|
NM_003108.4(SOX11):c.191G>T (p.Arg64Leu)
|
|
|
|
NM_003108.4(SOX11):c.223C>G (p.His75Asp)
|
|
|
|
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp)
|
rs1665660543
|
|
|
NM_003108.4(SOX11):c.239C>T (p.Ser80Phe)
|
rs1553327809
|
|
|
NM_003108.4(SOX11):c.250G>A (p.Gly84Ser)
|
|
|
|
NM_003108.4(SOX11):c.259T>C (p.Trp87Arg)
|
|
|
|
NM_003108.4(SOX11):c.293del (p.Phe98fs)
|
rs1558373252
|
|
|
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro)
|
rs1064794628
|
|
|
NM_003108.4(SOX11):c.305C>T (p.Ala102Val)
|
rs1665661372
|
|
|
NM_003108.4(SOX11):c.317G>C (p.Arg106Pro)
|
|
|
|
NM_003108.4(SOX11):c.322A>G (p.Lys108Glu)
|
|
|
|
NM_003108.4(SOX11):c.326A>C (p.His109Pro)
|
|
|
|
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)
|
|
|
|
NM_003108.4(SOX11):c.353A>G (p.Tyr118Cys)
|
|
|
|
NM_003108.4(SOX11):c.359C>A (p.Pro120His)
|
|
|
|
NM_003108.4(SOX11):c.359C>T (p.Pro120Leu)
|
rs1665662335
|
|
|
NM_003108.4(SOX11):c.650_651insGA (p.Lys218fs)
|
rs2103276750
|
|
|
NM_003108.4(SOX11):c.657C>A (p.Cys219Ter)
|
|
|
|
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter)
|
rs780122780
|
|
|
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
|
|
|
|
NM_003108.4(SOX11):c.886G>T (p.Glu296Ter)
|
rs1441654871
|
|
|
NM_003185.4(TAF4):c.1290del (p.Val431fs)
|
|
|
|
NM_003185.4(TAF4):c.1529del (p.Gly510fs)
|
|
|
|
NM_003185.4(TAF4):c.213_268del (p.Gly72fs)
|
|
|
|
NM_003185.4(TAF4):c.3160_3163del (p.Arg1054fs)
|
|
|
|
NM_003185.4(TAF4):c.808_818del (p.Pro270fs)
|
|
|
|
NM_003185.4(TAF4):c.962del (p.Gly321fs)
|
|
|
|
NM_003238.6(TGFB2):c.1049G>A (p.Cys350Tyr)
|
rs1558264109
|
|
|
NM_003238.6(TGFB2):c.274G>T (p.Glu92Ter)
|
rs1656706610
|
|
|
NM_003238.6(TGFB2):c.346+1G>A
|
rs1553292145
|
|
|
NM_003238.6(TGFB2):c.346+1G>T
|
rs1553292145
|
|
|
NM_003238.6(TGFB2):c.370dup (p.Arg124fs)
|
rs869025533
|
|
|
NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter)
|
rs869025531
|
|
|
NM_003238.6(TGFB2):c.458G>A (p.Arg153His)
|
rs1057518684
|
|
|
NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter)
|
rs730880221
|
|
|
NM_003238.6(TGFB2):c.622delinsGG (p.His208fs)
|
rs1659897581
|
|
|
NM_003238.6(TGFB2):c.754+1G>A
|
|
|
|
NM_003238.6(TGFB2):c.755-5_755-2delinsG
|
rs1553303161
|
|
|
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys)
|
rs869312903
|
|
|
NM_003238.6(TGFB2):c.905G>A (p.Arg302His)
|
rs1553303213
|
|
|
NM_003238.6(TGFB2):c.921_932+4del
|
|
|
|
NM_003238.6(TGFB2):c.933-1G>A
|
|
|
|
NM_003238.6(TGFB2):c.933-2A>C
|
|
|
|
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)
|
rs1553303352
|
|
|
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter)
|
rs1060502827
|
|
|
NM_003239.5(TGFB3):c.1081-1G>A
|
|
|
|
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs)
|
rs1555360047
|
|
|
NM_003239.5(TGFB3):c.1195G>T (p.Glu399Ter)
|
rs1555360027
|
|
|
NM_003239.5(TGFB3):c.1202T>C (p.Leu401Pro)
|
|
|
|
NM_003239.5(TGFB3):c.353-1G>C
|
rs1555360883
|
|
|
NM_003239.5(TGFB3):c.397C>T (p.Arg133Cys)
|
|
|
|
NM_003239.5(TGFB3):c.517-1G>C
|
rs1566682530
|
|
|
NM_003239.5(TGFB3):c.517-2A>G
|
rs2035287906
|
|
|
NM_003239.5(TGFB3):c.646+1G>C
|
|
|
|
NM_003239.5(TGFB3):c.646+1G>T
|
|
|
|
NM_003239.5(TGFB3):c.754+1G>A
|
|
|
|
NM_003239.5(TGFB3):c.755-1G>A
|
|
|
|
NM_003239.5(TGFB3):c.884del (p.Gly295fs)
|
|
|
|
NM_003239.5(TGFB3):c.916del (p.Tyr306fs)
|
rs1555360362
|
|
|
NM_003239.5(TGFB3):c.926+1G>A
|
rs2035180096
|
|
|
NM_003239.5(TGFB3):c.926+1G>T
|
rs2035180096
|
|
|
NM_003239.5(TGFB3):c.926+2T>C
|
|
|
|
NM_003239.5(TGFB3):c.927-1G>C
|
rs767548724
|
|
|
NM_003239.5(TGFB3):c.952C>T (p.Arg318Cys)
|
rs2140236263
|
|
|
NM_003242.6(TGFBR2):c.1049T>A (p.Leu350Gln)
|
|
|
|
NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp)
|
rs869025537
|
|
|
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)
|
rs104893813
|
|
|
NM_003242.6(TGFBR2):c.1069G>A (p.Gly357Arg)
|
|
|
|
NM_003242.6(TGFBR2):c.1102T>C (p.Cys368Arg)
|
rs2125436184
|
|
|
NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser)
|
rs1575158079
|
|
|
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser)
|
rs193922660
|
|
|
NM_003242.6(TGFBR2):c.1177T>C (p.Cys393Arg)
|
rs2125436754
|
|
|
NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly)
|
rs2125436754
|
|
|
NM_003242.6(TGFBR2):c.1241_1254+1del
|
|
|
|
NM_003242.6(TGFBR2):c.1259G>T (p.Gly420Val)
|
rs1553630426
|
|
|
NM_003242.6(TGFBR2):c.1277C>T (p.Ala426Val)
|
rs730880224
|
|
|
NM_003242.6(TGFBR2):c.1301T>A (p.Met434Lys)
|
rs1575158954
|
|
|
NM_003242.6(TGFBR2):c.1305T>A (p.Asn435Lys)
|
rs2125438974
|
|
|
NM_003242.6(TGFBR2):c.1331A>C (p.Gln444Pro)
|
rs2125439099
|
|
|
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn)
|
rs886039551
|
|
|
NM_003242.6(TGFBR2):c.1378C>A (p.Arg460Ser)
|
rs104893811
|
|
|
NM_003242.6(TGFBR2):c.1379G>C (p.Arg460Pro)
|
rs104893816
|
|
|
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr)
|
rs587782979
|
|
|
NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp)
|
rs863224935
|
|
|
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)
|
rs104893819
|
|
|
NM_003242.6(TGFBR2):c.1490G>A (p.Arg497Gln)
|
rs200958264
|
|
|
NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter)
|
rs397516840
|
|
|
NM_003242.6(TGFBR2):c.1524+1G>A
|
rs727503475
|
|
|
NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg)
|
rs193922664
|
|
|
NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del)
|
rs876658120
|
|
|
NM_003242.6(TGFBR2):c.1562G>A (p.Trp521Ter)
|
|
|
|
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)
|
rs727504421
|
|
|
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val)
|
rs727503476
|
|
|
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr)
|
rs727503477
|
|
|
NM_003242.6(TGFBR2):c.1592C>A (p.Ala531Asp)
|
|
|
|
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)
|
rs104893809
|
|
|
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser)
|
rs193922665
|
|
|
NM_003242.6(TGFBR2):c.383del (p.Lys128fs)
|
rs79375991
|
|
|
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys)
|
rs863223856
|
|
|
NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg)
|
rs727503472
|
|
|
NM_003242.6(TGFBR2):c.860G>C (p.Trp287Ser)
|
rs2125434732
|
|
|
NM_003242.6(TGFBR2):c.871_873del (p.Lys291del)
|
rs1699349663
|
|
|
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg)
|
rs863223857
|
|
|
NM_003282.4(TNNI2):c.454-2A>G
|
|
|
|
NM_003282.4(TNNI2):c.486G>T (p.Arg162Ser)
|
|
|
|
NM_003282.4(TNNI2):c.496G>T (p.Glu166Ter)
|
|
|
|
NM_003282.4(TNNI2):c.503_505dup (p.Ser169Ter)
|
|
|
|
NM_003282.4(TNNI2):c.520C>T (p.Arg174Trp)
|
rs1589797083
|
|
|
NM_003282.4(TNNI2):c.524AGA[1] (p.Lys176del)
|
rs199474801
|
|
|
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn)
|
rs797046046
|
|
|
NM_003289.4(TPM2):c.307C>A (p.Gln103Lys)
|
rs1587959107
|
|
|
NM_003319.4(TTN):c.12525dup (p.Asn4176Ter)
|
rs876657673
|
|
|
NM_003319.4(TTN):c.22101_22120del (p.Val7368fs)
|
rs727504825
|
|
|
NM_003319.4(TTN):c.80003_80028+4del
|
rs1553479603
|
|
|
NM_003361.4(UMOD):c.1196A>G (p.His399Arg)
|
rs1596552335
|
|
|
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu)
|
rs780475918
|
|
|
NM_003361.4(UMOD):c.1463G>A (p.Gly488Asp)
|
rs1555486021
|
|
|
NM_003361.4(UMOD):c.1492C>T (p.Arg498Ter)
|
|
|
|
NM_003361.4(UMOD):c.150C>G (p.Cys50Trp)
|
rs1965764292
|
|
|
NM_003361.4(UMOD):c.154T>G (p.Cys52Gly)
|
|
|
|
NM_003361.4(UMOD):c.172G>T (p.Gly58Cys)
|
|
|
|
NM_003361.4(UMOD):c.175G>T (p.Asp59Tyr)
|
|
|
|
NM_003361.4(UMOD):c.188G>C (p.Cys63Ser)
|
|
|
|
NM_003361.4(UMOD):c.189C>G (p.Cys63Trp)
|
rs1199326518
|
|
|
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro)
|
rs1567311288
|
|
|
NM_003361.4(UMOD):c.203A>T (p.Glu68Val)
|
rs2141676976
|
|
|
NM_003361.4(UMOD):c.230G>C (p.Cys77Ser)
|
rs121917768
|
|
|
NM_003361.4(UMOD):c.248G>A (p.Cys83Tyr)
|
|
|
|
NM_003361.4(UMOD):c.248G>T (p.Cys83Phe)
|
|
|
|
NM_003361.4(UMOD):c.249C>G (p.Cys83Trp)
|
rs1449715458
|
|
|
NM_003361.4(UMOD):c.254A>T (p.Asn85Ile)
|
|
|
|
NM_003361.4(UMOD):c.263G>A (p.Gly88Asp)
|
rs2141676609
|
|
|
NM_003361.4(UMOD):c.272_274del (p.Ser91del)
|
rs1965755740
|
|
|
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)
|
rs878855325
|
|
|
NM_003361.4(UMOD):c.280T>C (p.Cys94Arg)
|
rs2141676543
|
|
|
NM_003361.4(UMOD):c.313G>T (p.Gly105Cys)
|
rs747592262
|
|
|
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)
|
rs398123697
|
|
|
NM_003361.4(UMOD):c.358T>C (p.Cys120Arg)
|
|
|
|
NM_003361.4(UMOD):c.359G>T (p.Cys120Phe)
|
|
|
|
NM_003361.4(UMOD):c.404G>T (p.Cys135Phe)
|
|
|
|
NM_003361.4(UMOD):c.411C>G (p.Cys137Trp)
|
rs1197633531
|
|
|
NM_003361.4(UMOD):c.464G>C (p.Cys155Ser)
|
|
|
|
NM_003361.4(UMOD):c.481T>C (p.Cys161Arg)
|
|
|
|
NM_003361.4(UMOD):c.510C>G (p.Cys170Trp)
|
|
|
|
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro)
|
rs1228791562
|
|
|
NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys)
|
rs1064796542
|
|
|
NM_003361.4(UMOD):c.552G>C (p.Trp184Cys)
|
rs1965732404
|
|
|
NM_003361.4(UMOD):c.553C>G (p.Arg185Gly)
|
|
|
|
NM_003361.4(UMOD):c.554G>C (p.Arg185Pro)
|
|
|
|
NM_003361.4(UMOD):c.583T>C (p.Cys195Arg)
|
|
|
|
NM_003361.4(UMOD):c.585_586delinsGA (p.Cys195_Asp196delinsTrpAsn)
|
|
|
|
NM_003361.4(UMOD):c.586G>A (p.Asp196Asn)
|
rs1965729129
|
|
|
NM_003361.4(UMOD):c.587A>G (p.Asp196Gly)
|
rs1060499657
|
|
|
NM_003361.4(UMOD):c.601G>T (p.Gly201Cys)
|
|
|
|
NM_003361.4(UMOD):c.610C>G (p.Arg204Gly)
|
rs1567310019
|
|
|
NM_003361.4(UMOD):c.610C>T (p.Arg204Cys)
|
|
|
|
NM_003361.4(UMOD):c.611G>A (p.Arg204His)
|
|
|
|
NM_003361.4(UMOD):c.628G>A (p.Gly210Ser)
|
rs1567309965
|
|
|
NM_003361.4(UMOD):c.667T>A (p.Cys223Ser)
|
|
|
|
NM_003361.4(UMOD):c.688T>A (p.Trp230Arg)
|
|
|
|
NM_003361.4(UMOD):c.688T>C (p.Trp230Arg)
|
|
|
|
NM_003361.4(UMOD):c.733C>T (p.Arg245Cys)
|
|
|
|
NM_003361.4(UMOD):c.742T>C (p.Cys248Arg)
|
rs1965716874
|
|
|
NM_003361.4(UMOD):c.767G>C (p.Cys256Ser)
|
|
|
|
NM_003361.4(UMOD):c.774G>C (p.Trp258Cys)
|
rs1567309582
|
|
|
NM_003361.4(UMOD):c.808G>T (p.Gly270Cys)
|
rs781101544
|
|
|
NM_003361.4(UMOD):c.889T>C (p.Cys297Arg)
|
|
|
|
NM_003361.4(UMOD):c.891T>G (p.Cys297Trp)
|
|
|
|
NM_003361.4(UMOD):c.93G>T (p.Trp31Cys)
|
|
|
|
NM_003361.4(UMOD):c.947A>C (p.Gln316Pro)
|
rs1555487318
|
|
|
NM_003361.4(UMOD):c.949T>G (p.Cys317Gly)
|
rs1555487316
|
|
|
NM_003392.7(WNT5A):c.247T>G (p.Cys83Gly)
|
rs2106946273
|
|
|
NM_003392.7(WNT5A):c.248G>A (p.Cys83Tyr)
|
rs786200925
|
|
|
NM_003392.7(WNT5A):c.41del (p.Leu14fs)
|
rs2106955417
|
|
|
NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe)
|
rs2051315439
|
|
|
NM_003392.7(WNT5A):c.479C>G (p.Ser160Cys)
|
rs1553677971
|
|
|
NM_003392.7(WNT5A):c.487G>C (p.Gly163Arg)
|
rs587784562
|
|
|
NM_003392.7(WNT5A):c.487_492dup (p.Gly163_Cys164dup)
|
rs1553677967
|
|
|
NM_003392.7(WNT5A):c.544T>C (p.Cys182Arg)
|
rs387906663
|
|
|
NM_003482.4(KMT2D):c.1769dup (p.Met590fs)
|
rs1565819425
|
|
|
NM_003620.4(PPM1D):c.1221_1222insTC (p.Val408fs)
|
rs2143719799
|
|
|
NM_003620.4(PPM1D):c.1224dup (p.Met409fs)
|
|
|
|
NM_003620.4(PPM1D):c.1237_1238del (p.Pro413fs)
|
rs1555648565
|
|
|
NM_003620.4(PPM1D):c.1244dup (p.Thr416fs)
|
rs2143719857
|
|
|
NM_003620.4(PPM1D):c.1249_1250insA (p.Pro417fs)
|
|
|
|
NM_003620.4(PPM1D):c.1273_1274insT (p.Asp425fs)
|
|
|
|
NM_003620.4(PPM1D):c.1277del (p.Pro426fs)
|
rs1555649009
|
|
|
NM_003620.4(PPM1D):c.1349T>G (p.Leu450Ter)
|
|
|
|
NM_003620.4(PPM1D):c.1372C>T (p.Arg458Ter)
|
|
|
|
NM_003620.4(PPM1D):c.1384C>T (p.Gln462Ter)
|
|
|
|
NM_003620.4(PPM1D):c.1412del (p.Pro471fs)
|
rs780195897
|
|
|
NM_003620.4(PPM1D):c.1434C>A (p.Cys478Ter)
|
|
|
|
NM_003620.4(PPM1D):c.1606del (p.Arg536fs)
|
rs2031564242
|
|
|
NM_003680.4(YARS1):c.586G>C (p.Glu196Gln)
|
rs121908834
|
|
|
NM_003680.4(YARS1):c.587A>G (p.Glu196Gly)
|
rs2148610315
|
|
|
NM_003722.5(TP63):c.1012C>T (p.Arg338Cys)
|
rs1404019220
|
|
|
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln)
|
rs121908841
|
|
|
NM_003722.5(TP63):c.1129+1G>A
|
|
|
|
NM_003722.5(TP63):c.1646T>A (p.Ile549Asn)
|
|
|
|
NM_003722.5(TP63):c.1670G>T (p.Gly557Val)
|
rs2108864735
|
|
|
NM_003722.5(TP63):c.1685T>C (p.Leu562Pro)
|
rs774221257
|
|
|
NM_003722.5(TP63):c.345dup (p.Leu116fs)
|
|
|
|
NM_003722.5(TP63):c.679G>A (p.Ala227Thr)
|
|
|
|
NM_003722.5(TP63):c.739C>T (p.His247Tyr)
|
rs1553856553
|
|
|
NM_003722.5(TP63):c.797G>A (p.Arg266Gln)
|
rs121908849
|
|
|
NM_003722.5(TP63):c.802G>A (p.Glu268Lys)
|
rs2108801803
|
|
|
NM_003722.5(TP63):c.858dup (p.Leu287fs)
|
rs2108801923
|
|
|
NM_003722.5(TP63):c.925A>G (p.Asn309Asp)
|
|
|
|
NM_003722.5(TP63):c.953G>A (p.Arg318His)
|
rs121908840
|
|
|
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)
|
rs56126236
|
|
|
NM_004004.6(GJB2):c.-22-2A>G
|
rs201895089
|
|
|
NM_004004.6(GJB2):c.-23+2T>G
|
|
|
|
NM_004004.6(GJB2):c.-23G>T
|
rs786204734
|
|
|
NM_004004.6(GJB2):c.122AGG[1] (p.Glu42del)
|
rs1566528901
|
|
|
NM_004004.6(GJB2):c.128T>C (p.Val43Ala)
|
|
|
|
NM_004004.6(GJB2):c.134del (p.Gly45fs)
|
rs1057517491
|
|
|
NM_004004.6(GJB2):c.155_158del (p.Val52fs)
|
|
|
|
NM_004004.6(GJB2):c.161A>G (p.Asn54Ser)
|
rs2137308512
|
|
|
NM_004004.6(GJB2):c.172C>T (p.Pro58Ser)
|
rs1064797090
|
|
|
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)
|
rs104894402
|
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
|
NM_004004.6(GJB2):c.244A>G (p.Ile82Val)
|
rs1566528711
|
|
|
NM_004004.6(GJB2):c.253T>C (p.Ser85Pro)
|
|
|
|
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)
|
rs1291519904
|
|
|
NM_004004.6(GJB2):c.355G>T (p.Glu119Ter)
|
rs150529554
|
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
|
NM_004004.6(GJB2):c.388G>C (p.Gly130Arg)
|
|
|
|
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala)
|
rs779018464
|
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
|
NM_004004.6(GJB2):c.428G>C (p.Arg143Pro)
|
|
|
|
NM_004004.6(GJB2):c.486_493dup (p.Arg165fs)
|
|
|
|
NM_004004.6(GJB2):c.498_499dup (p.Val167fs)
|
|
|
|
NM_004004.6(GJB2):c.514del (p.Trp172fs)
|
rs1057517508
|
|
|
NM_004004.6(GJB2):c.516G>A (p.Trp172Ter)
|
rs1302739538
|
|
|
NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs)
|
rs886037624
|
|
|
NM_004004.6(GJB2):c.524C>G (p.Pro175Arg)
|
rs2137307322
|
|
|
NM_004004.6(GJB2):c.535G>C (p.Asp179His)
|
rs28931595
|
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
|
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter)
|
rs1566528185
|
|
|
NM_004004.6(GJB2):c.564_565del (p.Lys188fs)
|
rs770116143
|
|
|
NM_004004.6(GJB2):c.575_576del (p.Thr192fs)
|
rs1057517521
|
|
|
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)
|
rs786204597
|
|
|
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)
|
rs1057517519
|
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
|
NM_004004.6(GJB2):c.98T>C (p.Ile33Thr)
|
|
|
|
NM_004064.5(CDKN1B):c.160G>T (p.Glu54Ter)
|
|
|
|
NM_004064.5(CDKN1B):c.174dup (p.Lys59fs)
|
|
|
|
NM_004064.5(CDKN1B):c.18_23delinsT (p.Ser7fs)
|
|
|
|
NM_004064.5(CDKN1B):c.18del (p.Ser7fs)
|
|
|
|
NM_004064.5(CDKN1B):c.21_24del (p.Asn8fs)
|
|
|
|
NM_004064.5(CDKN1B):c.225dup (p.Trp76fs)
|
|
|
|
NM_004064.5(CDKN1B):c.476-18A>G
|
|
|
|
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp)
|
rs1577059692
|
|
|
NM_004070.4(CLCNKA):c.1985G>T (p.Gly662Val)
|
rs1557458426
|
|
|
NM_004082.5(DCTN1):c.211G>A (p.Gly71Arg)
|
rs72466485
|
|
|
NM_004082.5(DCTN1):c.279G>C (p.Gln93His)
|
|
|
|
NM_004086.3(COCH):c.1412T>G (p.Val471Gly)
|
|
|
|
NM_004086.3(COCH):c.152C>A (p.Pro51Gln)
|
|
|
|
NM_004086.3(COCH):c.1547C>A (p.Pro516Gln)
|
|
|
|
NM_004086.3(COCH):c.1547C>G (p.Pro516Arg)
|
|
|
|
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe)
|
rs121908932
|
|
|
NM_004086.3(COCH):c.340C>G (p.Leu114Val)
|
|
|
|
NM_004100.5(EYA4):c.1122G>A (p.Trp374Ter)
|
|
|
|
NM_004100.5(EYA4):c.1173T>A (p.Tyr391Ter)
|
|
|
|
NM_004100.5(EYA4):c.1173T>G (p.Tyr391Ter)
|
|
|
|
NM_004100.5(EYA4):c.1200dup (p.Met401fs)
|
|
|
|
NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter)
|
rs1562505728
|
|
|
NM_004100.5(EYA4):c.1468G>T (p.Glu490Ter)
|
rs1305000119
|
|
|
NM_004100.5(EYA4):c.1486A>T (p.Lys496Ter)
|
|
|
|
NM_004100.5(EYA4):c.1519A>T (p.Lys507Ter)
|
|
|
|
NM_004100.5(EYA4):c.1745_1748del (p.Glu582fs)
|
|
|
|
NM_004100.5(EYA4):c.310_314del (p.Asn104fs)
|
|
|
|
NM_004100.5(EYA4):c.472C>T (p.Gln158Ter)
|
rs1794473050
|
|
|
NM_004100.5(EYA4):c.725-2A>G
|
|
|
|
NM_004100.5(EYA4):c.838C>T (p.Gln280Ter)
|
|
|
|
NM_004100.5(EYA4):c.905del (p.Gly302fs)
|
|
|
|
NM_004115.4(FGF14):c.194-1G>C
|
|
|
|
NM_004115.4(FGF14):c.408+1G>A
|
|
|
|
NM_004184.4(WARS1):c.700A>G (p.Ile234Val)
|
|
|
|
NM_004247.4(EFTUD2):c.1137G>C (p.Lys379Asn)
|
|
|
|
NM_004247.4(EFTUD2):c.1286-2A>G
|
rs2145474253
|
|
|
NM_004247.4(EFTUD2):c.1286-2del
|
|
|
|
NM_004247.4(EFTUD2):c.1292_1293del (p.Val431fs)
|
|
|
|
NM_004247.4(EFTUD2):c.1332del (p.Ala445fs)
|
|
|
|
NM_004247.4(EFTUD2):c.1542C>A (p.Tyr514Ter)
|
rs749855263
|
|
|
NM_004247.4(EFTUD2):c.1607+3A>G
|
rs2145469964
|
|
|
NM_004247.4(EFTUD2):c.1649T>A (p.Val550Asp)
|
rs2145461096
|
|
|
NM_004247.4(EFTUD2):c.1742del (p.Lys581fs)
|
rs1597795170
|
|
|
NM_004247.4(EFTUD2):c.1946C>G (p.Ser649Ter)
|
rs2145455322
|
|
|
NM_004247.4(EFTUD2):c.2023_2026dup (p.Ala676fs)
|
|
|
|
NM_004247.4(EFTUD2):c.2033C>T (p.Thr678Met)
|
rs781402078
|
|
|
NM_004247.4(EFTUD2):c.2045+2T>G
|
rs863224868
|
|
|
NM_004247.4(EFTUD2):c.2126G>A (p.Trp709Ter)
|
|
|
|
NM_004247.4(EFTUD2):c.2133-2A>G
|
|
|
|
NM_004247.4(EFTUD2):c.2166C>A (p.Tyr722Ter)
|
rs1240441464
|
|
|
NM_004247.4(EFTUD2):c.2309T>C (p.Phe770Ser)
|
|
|
|
NM_004247.4(EFTUD2):c.2335C>T (p.Leu779Phe)
|
rs1597789186
|
|
|
NM_004247.4(EFTUD2):c.2551del (p.Ala851fs)
|
rs1555564126
|
|
|
NM_004247.4(EFTUD2):c.2562-2A>G
|
|
|
|
NM_004247.4(EFTUD2):c.2562-2_2562-1del
|
rs2050474390
|
|
|
NM_004247.4(EFTUD2):c.2815dup (p.Arg939fs)
|
|
|
|
NM_004247.4(EFTUD2):c.334dup (p.Thr112fs)
|
|
|
|
NM_004247.4(EFTUD2):c.351-2A>G
|
|
|
|
NM_004247.4(EFTUD2):c.426+1dup
|
|
|
|
NM_004247.4(EFTUD2):c.446T>A (p.Leu149Ter)
|
|
|
|
NM_004247.4(EFTUD2):c.568_569del (p.Leu190fs)
|
|
|
|
NM_004247.4(EFTUD2):c.670G>A (p.Gly224Arg)
|
|
|
|
NM_004247.4(EFTUD2):c.702+2T>C
|
|
|
|
NM_004247.4(EFTUD2):c.719_720del (p.Glu240fs)
|
|
|
|
NM_004247.4(EFTUD2):c.766_767del (p.Cys256fs)
|
|
|
|
NM_004247.4(EFTUD2):c.793del (p.Leu265fs)
|
|
|
|
NM_004247.4(EFTUD2):c.828C>A (p.Tyr276Ter)
|
|
|
|
NM_004247.4(EFTUD2):c.870-1G>T
|
rs2145503914
|
|
|
NM_004247.4(EFTUD2):c.870-5_870-4del
|
rs2145503920
|
|
|
NM_004247.4:c.(350+1_351-1)_(492+1_493-1)del
|
|
|
|
NM_004287.5(GOSR2):c.1A>C (p.Met1Leu)
|
|
|
|
NM_004321.8(KIF1A):c.935C>A (p.Thr312Asn)
|
rs779049732
|
|
|
NM_004329.3(BMPR1A):c.115_116insA (p.Ser39fs)
|
rs587783038
|
|
|
NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter)
|
rs1131691181
|
|
|
NM_004329.3(BMPR1A):c.1533del (p.Arg511fs)
|
rs1843700160
|
|
|
NM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter)
|
rs1564714834
|
|
|
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)
|
rs397507475
|
|
|
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)
|
rs397516895
|
|
|
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)
|
rs180177042
|
|
|
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)
|
rs727502904
|
|
|
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)
|
rs397507466
|
|
|
NM_004360.5(CDH1):c.1145del (p.Gly382fs)
|
rs1555515863
|
|
|
NM_004360.5(CDH1):c.1198G>A (p.Asp400Asn)
|
rs1960893142
|
|
|
NM_004360.5(CDH1):c.1320G>T (p.Lys440Asn)
|
rs1555515925
|
|
|
NM_004360.5(CDH1):c.1371_1373del (p.Asn458del)
|
rs2152134773
|
|
|
NM_004360.5(CDH1):c.321C>G (p.Tyr107Ter)
|
rs765929630
|
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
|
NM_004380.3(CREBBP):c.1094A>C (p.His365Pro)
|
|
|
|
NM_004380.3(CREBBP):c.1301A>T (p.Lys434Ile)
|
|
|
|
NM_004380.3(CREBBP):c.1511_1517del (p.Val504fs)
|
|
|
|
NM_004380.3(CREBBP):c.1574-2A>G
|
rs2141248421
|
|
|
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp)
|
rs1354934373
|
|
|
NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro)
|
rs2053254528
|
|
|
NM_004380.3(CREBBP):c.1824-1G>C
|
|
|
|
NM_004380.3(CREBBP):c.189del (p.Ala64fs)
|
|
|
|
NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro)
|
rs2141237064
|
|
|
NM_004380.3(CREBBP):c.2031del (p.Ile678fs)
|
rs1555483716
|
|
|
NM_004380.3(CREBBP):c.2111del (p.Pro704fs)
|
|
|
|
NM_004380.3(CREBBP):c.2113+1G>C
|
|
|
|
NM_004380.3(CREBBP):c.2283+1G>T
|
|
|
|
NM_004380.3(CREBBP):c.2464-1G>A
|
rs2052993075
|
|
|
NM_004380.3(CREBBP):c.2689C>T (p.Gln897Ter)
|
|
|
|
NM_004380.3(CREBBP):c.3248_3250+4del
|
|
|
|
NM_004380.3(CREBBP):c.3270dup (p.Arg1091fs)
|
|
|
|
NM_004380.3(CREBBP):c.3370-2A>G
|
rs866703165
|
|
|
NM_004380.3(CREBBP):c.3374_3377dup (p.Phe1126fs)
|
|
|
|
NM_004380.3(CREBBP):c.3418del (p.Arg1140fs)
|
rs2151383848
|
|
|
NM_004380.3(CREBBP):c.3490G>C (p.Ala1164Pro)
|
rs797045492
|
|
|
NM_004380.3(CREBBP):c.3495_3575del (p.Trp1165_Val1192delinsCys)
|
rs1596853925
|
|
|
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys)
|
rs587783481
|
|
|
NM_004380.3(CREBBP):c.3504_3527del (p.Asn1168_Tyr1175del)
|
|
|
|
NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg)
|
|
|
|
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)
|
rs28937315
|
|
|
NM_004380.3(CREBBP):c.3535A>G (p.Ser1179Gly)
|
rs1596854023
|
|
|
NM_004380.3(CREBBP):c.3623dup (p.Gln1209fs)
|
rs2052611239
|
|
|
NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys)
|
rs1057518844
|
|
|
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)
|
rs1596839714
|
|
|
NM_004380.3(CREBBP):c.3779+1G>C
|
rs587783483
|
|
|
NM_004380.3(CREBBP):c.37A>G (p.Lys13Glu)
|
rs587783484
|
|
|
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)
|
rs267606752
|
|
|
NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln)
|
rs267606752
|
|
|
NM_004380.3(CREBBP):c.3836+5G>A
|
|
|
|
NM_004380.3(CREBBP):c.3914+3G>T
|
rs587783485
|
|
|
NM_004380.3(CREBBP):c.3940A>T (p.Lys1314Ter)
|
rs2151354104
|
|
|
NM_004380.3(CREBBP):c.3982+3A>T
|
rs1596823180
|
|
|
NM_004380.3(CREBBP):c.3983-1G>C
|
rs2151341377
|
|
|
NM_004380.3(CREBBP):c.4022G>C (p.Arg1341Pro)
|
rs587783488
|
|
|
NM_004380.3(CREBBP):c.4040G>C (p.Arg1347Pro)
|
rs1596813665
|
|
|
NM_004380.3(CREBBP):c.4067_4071del (p.Glu1356fs)
|
|
|
|
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro)
|
rs121434626
|
|
|
NM_004380.3(CREBBP):c.4134-1G>T
|
rs886041048
|
|
|
NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe)
|
rs149877180
|
|
|
NM_004380.3(CREBBP):c.4175G>T (p.Arg1392Leu)
|
rs1596812290
|
|
|
NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr)
|
rs2052153254
|
|
|
NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser)
|
rs587783492
|
|
|
NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe)
|
rs200616542
|
|
|
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg)
|
rs145988918
|
|
|
NM_004380.3(CREBBP):c.4281-11C>G
|
rs587783493
|
|
|
NM_004380.3(CREBBP):c.4281-2A>T
|
|
|
|
NM_004380.3(CREBBP):c.4281G>T (p.Arg1427Ser)
|
rs797045494
|
|
|
NM_004380.3(CREBBP):c.4283G>C (p.Arg1428Pro)
|
rs778448390
|
|
|
NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His)
|
rs1596810435
|
|
|
NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr)
|
rs1596810419
|
|
|
NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu)
|
rs928061320
|
|
|
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
|
rs398124146
|
|
|
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His)
|
rs1057519884
|
|
|
NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly)
|
rs587783494
|
|
|
NM_004380.3(CREBBP):c.4395-2A>C
|
rs2151330226
|
|
|
NM_004380.3(CREBBP):c.4417G>A (p.Ala1473Thr)
|
rs1596805927
|
|
|
NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del)
|
rs1555473122
|
|
|
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)
|
rs886041286
|
|
|
NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys)
|
rs587783496
|
|
|
NM_004380.3(CREBBP):c.4459C>T (p.His1487Tyr)
|
rs1057519207
|
|
|
NM_004380.3(CREBBP):c.4460A>G (p.His1487Arg)
|
rs1596805792
|
|
|
NM_004380.3(CREBBP):c.4471C>A (p.Gln1491Lys)
|
|
|
|
NM_004380.3(CREBBP):c.4508A>T (p.Tyr1503Phe)
|
|
|
|
NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu)
|
rs1596804126
|
|
|
NM_004380.3(CREBBP):c.4615T>A (p.Tyr1539Asn)
|
|
|
|
NM_004380.3(CREBBP):c.4719_4728+614del
|
|
|
|
NM_004380.3(CREBBP):c.4812del (p.Asn1604fs)
|
|
|
|
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)
|
rs1555471931
|
|
|
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His)
|
rs1596791996
|
|
|
NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu)
|
rs1596791996
|
|
|
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
|
rs587783502
|
|
|
NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro)
|
rs587783503
|
|
|
NM_004380.3(CREBBP):c.5059T>C (p.Ser1687Pro)
|
rs61731407
|
|
|
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe)
|
rs2151316542
|
|
|
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg)
|
rs2051906390
|
|
|
NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser)
|
rs2051863859
|
|
|
NM_004380.3(CREBBP):c.5197T>G (p.Tyr1733Asp)
|
|
|
|
NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val)
|
rs869312714
|
|
|
NM_004380.3(CREBBP):c.5336T>C (p.Leu1779Pro)
|
rs1064796457
|
|
|
NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val)
|
rs2051858361
|
|
|
NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His)
|
rs988251457
|
|
|
NM_004380.3(CREBBP):c.5412C>A (p.His1804Gln)
|
rs797045496
|
|
|
NM_004380.3(CREBBP):c.5482_5484del (p.Tyr1828del)
|
rs1596787459
|
|
|
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln)
|
rs1131691326
|
|
|
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)
|
rs797045037
|
|
|
NM_004380.3(CREBBP):c.5615T>C (p.Met1872Thr)
|
rs879255381
|
|
|
NM_004380.3(CREBBP):c.5694_5703del (p.Ser1898fs)
|
rs1555471323
|
|
|
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter)
|
rs587783505
|
|
|
NM_004380.3(CREBBP):c.5830dup (p.Ala1944fs)
|
rs1567262786
|
|
|
NM_004380.3(CREBBP):c.5836_5837del (p.Pro1946fs)
|
|
|
|
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)
|
rs587783507
|
|
|
NM_004380.3(CREBBP):c.5961_5981delinsGCAT (p.Met1988fs)
|
rs2151306905
|
|
|
NM_004380.3(CREBBP):c.6046_6049del (p.Met2016fs)
|
|
|
|
NM_004380.3(CREBBP):c.6111del (p.Arg2037fs)
|
|
|
|
NM_004380.3(CREBBP):c.6130_6171del (p.Ala2044_Gln2057del)
|
rs587783511
|
|
|
NM_004380.3(CREBBP):c.6169C>T (p.Gln2057Ter)
|
|
|
|
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter)
|
rs886041518
|
|
|
NM_004380.3(CREBBP):c.6250C>T (p.Gln2084Ter)
|
rs2051825168
|
|
|
NM_004380.3(CREBBP):c.6275C>G (p.Ser2092Ter)
|
rs1555471077
|
|
|
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter)
|
rs199821421
|
|
|
NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter)
|
rs2151304304
|
|
|
NM_004380.3(CREBBP):c.7261_*247delinsC (p.Ser2421_Ter2443delinsXaa)
|
rs1555470631
|
|
|
NM_004380.3(CREBBP):c.85+1G>A
|
rs1597099388
|
|
|
NM_004380.3(CREBBP):c.859_860inv (p.Pro287Gly)
|
|
|
|
NM_004415.4(DSP):c.4473_4495dup (p.Cys1499fs)
|
|
|
|
NM_004423.4(DVL3):c.1473C>G (p.Tyr491Ter)
|
rs2109022762
|
|
|
NM_004423.4(DVL3):c.1617del (p.Gln539fs)
|
rs1553811652
|
|
|
NM_004423.4(DVL3):c.1715-1G>A
|
rs869025217
|
|
|
NM_004423.4(DVL3):c.1715-1G>C
|
rs869025217
|
|
|
NM_004423.4(DVL3):c.1715-2del
|
rs2109023862
|
|
|
NM_004423.4(DVL3):c.292del (p.Glu98fs)
|
|
|
|
NM_004465.2(FGF10):c.1A>G (p.Met1Val)
|
rs1554040396
|
|
|
NM_004465.2(FGF10):c.232del (p.Arg78fs)
|
rs1554040364
|
|
|
NM_004465.2(FGF10):c.256del (p.Thr86fs)
|
rs1554040361
|
|
|
NM_004465.2(FGF10):c.356del (p.Gly119fs)
|
rs1554035763
|
|
|
NM_004465.2(FGF10):c.374C>A (p.Ala125Asp)
|
|
|
|
NM_004465.2(FGF10):c.401T>A (p.Met134Lys)
|
rs1554035757
|
|
|
NM_004465.2(FGF10):c.550G>A (p.Gly184Arg)
|
rs1554035469
|
|
|
NM_004526.4(MCM2):c.388C>T (p.Arg130Cys)
|
rs770528099
|
|
|
NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro)
|
rs1554701914
|
|
|
NM_004612.4(TGFBR1):c.1198G>A (p.Asp400Asn)
|
rs2118827924
|
|
|
NM_004612.4(TGFBR1):c.1421G>A (p.Cys474Tyr)
|
rs1827899415
|
|
|
NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly)
|
rs730880223
|
|
|
NM_004612.4(TGFBR1):c.1446G>C (p.Arg482Ser)
|
|
|
|
NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser)
|
rs1588598651
|
|
|
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)
|
rs111426349
|
|
|
NM_004612.4(TGFBR1):c.1468A>G (p.Lys490Glu)
|
|
|
|
NM_004612.4(TGFBR1):c.487del (p.Asp163fs)
|
rs1827276619
|
|
|
NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp)
|
rs1564161224
|
|
|
NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe)
|
rs863223807
|
|
|
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val)
|
rs1564161322
|
|
|
NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser)
|
rs727503470
|
|
|
NM_004612.4(TGFBR1):c.640G>C (p.Gly214Arg)
|
rs727503470
|
|
|
NM_004612.4(TGFBR1):c.650G>A (p.Gly217Glu)
|
|
|
|
NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp)
|
rs1564161544
|
|
|
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)
|
rs111854391
|
|
|
NM_004612.4(TGFBR1):c.735G>C (p.Glu245Asp)
|
rs1588585506
|
|
|
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val)
|
rs886038919
|
|
|
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys)
|
rs1588585570
|
|
|
NM_004612.4(TGFBR1):c.791CAG[1] (p.Ala265del)
|
rs1827496704
|
|
|
NM_004612.4(TGFBR1):c.797A>G (p.Asp266Gly)
|
rs863223819
|
|
|
NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro)
|
rs1827646767
|
|
|
NM_004612.4(TGFBR1):c.829T>A (p.Trp277Arg)
|
rs1827647083
|
|
|
NM_004612.4(TGFBR1):c.860C>T (p.Ser287Phe)
|
rs863223832
|
|
|
NM_004612.4(TGFBR1):c.943C>T (p.His315Tyr)
|
rs2118780524
|
|
|
NM_004612.4(TGFBR1):c.973+1G>A
|
rs863223818
|
|
|
NM_004700.4(KCNQ4):c.1107T>A (p.Tyr369Ter)
|
|
|
|
NM_004700.4(KCNQ4):c.1438C>T (p.Gln480Ter)
|
rs1648636515
|
|
|
NM_004700.4(KCNQ4):c.1668C>G (p.Tyr556Ter)
|
|
|
|
NM_004700.4(KCNQ4):c.364C>T (p.Gln122Ter)
|
|
|
|
NM_004700.4(KCNQ4):c.721G>C (p.Ala241Pro)
|
|
|
|
NM_004700.4(KCNQ4):c.733G>A (p.Gly245Arg)
|
|
|
|
NM_004700.4(KCNQ4):c.826T>C (p.Trp276Arg)
|
rs2148319465
|
|
|
NM_004700.4(KCNQ4):c.857A>C (p.Tyr286Ser)
|
rs876657841
|
|
|
NM_004700.4(KCNQ4):c.859G>A (p.Gly287Ser)
|
rs137853969
|
|
|
NM_004700.4(KCNQ4):c.872C>T (p.Pro291Leu)
|
rs797044970
|
|
|
NM_004700.4(KCNQ4):c.882G>A (p.Trp294Ter)
|
|
|
|
NM_004839.4(HOMER2):c.1023_1029del (p.Asp342fs)
|
|
|
|
NM_004839.4(HOMER2):c.1031A>G (p.Ter344Trp)
|
|
|
|
NM_004859.4(CLTC):c.111del (p.Phe37fs)
|
rs2143496899
|
|
|
NM_004859.4(CLTC):c.1745C>T (p.Thr582Met)
|
|
|
|
NM_004859.4(CLTC):c.1752_1755del (p.Leu585fs)
|
|
|
|
NM_004859.4(CLTC):c.1824T>G (p.Tyr608Ter)
|
|
|
|
NM_004859.4(CLTC):c.2096_2099del (p.Ile699fs)
|
|
|
|
NM_004859.4(CLTC):c.250+3A>G
|
|
|
|
NM_004859.4(CLTC):c.2562-1G>C
|
|
|
|
NM_004859.4(CLTC):c.2562-2A>G
|
|
|
|
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
|
|
|
|
NM_004859.4(CLTC):c.3239C>A (p.Ser1080Ter)
|
rs2143591718
|
|
|
NM_004859.4(CLTC):c.346_347del (p.Leu116fs)
|
|
|
|
NM_004859.4(CLTC):c.3493C>T (p.Arg1165Ter)
|
|
|
|
NM_004859.4(CLTC):c.3611del (p.Arg1204fs)
|
|
|
|
NM_004859.4(CLTC):c.3647TGT[1] (p.Leu1217del)
|
|
|
|
NM_004859.4(CLTC):c.3805G>C (p.Ala1269Pro)
|
|
|
|
NM_004859.4(CLTC):c.3905_3911del (p.Met1302fs)
|
|
|
|
NM_004859.4(CLTC):c.397G>T (p.Glu133Ter)
|
|
|
|
NM_004859.4(CLTC):c.4098del (p.Asp1366fs)
|
|
|
|
NM_004859.4(CLTC):c.4324-8T>G
|
|
|
|
NM_004859.4(CLTC):c.4411_4413del (p.Phe1471del)
|
|
|
|
NM_004859.4(CLTC):c.4436_4439dup (p.Arg1481fs)
|
|
|
|
NM_004859.4(CLTC):c.4602_4603dup (p.Lys1535fs)
|
|
|
|
NM_004859.4(CLTC):c.4722C>G (p.Tyr1574Ter)
|
rs367867382
|
|
|
NM_004973.4(JARID2):c.12_13del (p.Arg5fs)
|
rs2127277880
|
|
|
NM_004985.5(KRAS):c.461A>G (p.Asp154Gly)
|
rs2141481712
|
|
|
NM_004999.4(MYO6):c.1381+1G>T
|
|
|
|
NM_004999.4(MYO6):c.188-1G>T
|
|
|
|
NM_004999.4(MYO6):c.2078-2A>G
|
rs1777874560
|
|
|
NM_004999.4(MYO6):c.2437C>T (p.Arg813Ter)
|
|
|
|
NM_004999.4(MYO6):c.2442_2445dup (p.Ala816Ter)
|
|
|
|
NM_004999.4(MYO6):c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT (p.Thr880_Ala883delinsArgAsnTer)
|
|
|
|
NM_004999.4(MYO6):c.2677G>T (p.Glu893Ter)
|
|
|
|
NM_004999.4(MYO6):c.2751dup (p.Gln918fs)
|
rs551348450
|
|
|
NM_004999.4(MYO6):c.3216_3219dup (p.Lys1074Ter)
|
|
|
|
NM_005121.3(MED13):c.1036dup (p.Val346fs)
|
rs2143672313
|
|
|
NM_005121.3(MED13):c.1968-1G>A
|
rs2080338119
|
|
|
NM_005121.3(MED13):c.2503C>T (p.Pro835Ser)
|
|
|
|
NM_005121.3(MED13):c.3644G>T (p.Gly1215Val)
|
|
|
|
NM_005121.3(MED13):c.3786_3787insAA (p.Pro1263fs)
|
|
|
|
NM_005121.3(MED13):c.3902C>G (p.Pro1301Arg)
|
rs2143410400
|
|
|
NM_005121.3(MED13):c.413_414dup (p.Ile139fs)
|
|
|
|
NM_005121.3(MED13):c.4225C>T (p.Arg1409Ter)
|
|
|
|
NM_005121.3(MED13):c.4802C>A (p.Ser1601Ter)
|
|
|
|
NM_005121.3(MED13):c.5541C>A (p.Cys1847Ter)
|
|
|
|
NM_005121.3(MED13):c.5885T>G (p.Val1962Gly)
|
|
|
|
NM_005219.5(DIAPH1):c.1044+1G>A
|
|
|
|
NM_005219.5(DIAPH1):c.1280+2T>G
|
rs2154596416
|
|
|
NM_005219.5(DIAPH1):c.144+2T>G
|
|
|
|
NM_005219.5(DIAPH1):c.2676+2T>G
|
|
|
|
NM_005219.5(DIAPH1):c.2945T>G (p.Leu982Arg)
|
rs1596339533
|
|
|
NM_005219.5(DIAPH1):c.402+2T>C
|
rs2154596613
|
|
|
NM_005219.5(DIAPH1):c.533+1G>T
|
|
|
|
NM_005219.5(DIAPH1):c.621-2A>G
|
rs2099896905
|
|
|
NM_005343.4(HRAS):c.171_185dup (p.Asp57_Gln61dup)
|
rs2133990973
|
|
|
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr)
|
rs727503093
|
|
|
NM_005343.4(HRAS):c.175_176delinsCT (p.Ala59Leu)
|
rs727504747
|
|
|
NM_005343.4(HRAS):c.178G>A (p.Gly60Ser)
|
rs1589792804
|
|
|
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)
|
rs121913233
|
|
|
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg)
|
rs104894229
|
|
|
NM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu)
|
rs727503094
|
|
|
NM_005343.4(HRAS):c.37G>A (p.Gly13Ser)
|
rs104894228
|
|
|
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)
|
rs104894228
|
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
|
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)
|
rs104894226
|
|
|
NM_005343.4(HRAS):c.437C>T (p.Ala146Val)
|
rs121917759
|
|
|
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys)
|
rs121917757
|
|
|
NM_005359.6(SMAD4):c.1060_1066delinsT (p.Val354_Pro356delinsSer)
|
|
|
|
NM_005359.6(SMAD4):c.1148T>G (p.Ile383Arg)
|
rs377767355
|
|
|
NM_005359.6(SMAD4):c.1271dup (p.Asp424fs)
|
rs1555686616
|
|
|
NM_005359.6(SMAD4):c.1392del (p.Val465fs)
|
rs1910480814
|
|
|
NM_005359.6(SMAD4):c.1515del (p.Phe505fs)
|
rs864622252
|
|
|
NM_005359.6(SMAD4):c.1523G>A (p.Gly508Asp)
|
rs1555687572
|
|
|
NM_005359.6(SMAD4):c.1541del (p.Pro514fs)
|
|
|
|
NM_005359.6(SMAD4):c.502G>T (p.Gly168Ter)
|
rs1909795990
|
|
|
NM_005359.6(SMAD4):c.50_51del (p.Leu17fs)
|
|
|
|
NM_005359.6(SMAD4):c.787+2T>C
|
rs1909895611
|
|
|
NM_005359.6(SMAD4):c.875del (p.Pro292fs)
|
|
|
|
NM_005378.6(MYCN):c.1037del (p.Pro346fs)
|
|
|
|
NM_005378.6(MYCN):c.1171C>A (p.Arg391Ser)
|
rs1662856733
|
|
|
NM_005378.6(MYCN):c.1178G>A (p.Arg393His)
|
rs104893646
|
|
|
NM_005378.6(MYCN):c.1181G>A (p.Arg394His)
|
rs104893648
|
|
|
NM_005378.6(MYCN):c.1181G>T (p.Arg394Leu)
|
rs104893648
|
|
|
NM_005378.6(MYCN):c.1211T>G (p.Leu404Arg)
|
|
|
|
NM_005378.6(MYCN):c.1274_1283del (p.Lys425fs)
|
|
|
|
NM_005378.6(MYCN):c.134del (p.Pro45fs)
|
|
|
|
NM_005378.6(MYCN):c.134dup (p.Glu47fs)
|
rs780080562
|
|
|
NM_005378.6(MYCN):c.152del (p.Lys51fs)
|
rs2103323892
|
|
|
NM_005378.6(MYCN):c.403C>T (p.Gln135Ter)
|
|
|
|
NM_005378.6(MYCN):c.407_489del (p.His136fs)
|
|
|
|
NM_005378.6(MYCN):c.621dup (p.Ala208fs)
|
|
|
|
NM_005378.6(MYCN):c.633_634dup (p.Ala212fs)
|
|
|
|
NM_005378.6(MYCN):c.727C>T (p.Gln243Ter)
|
|
|
|
NM_005378.6(MYCN):c.796G>T (p.Glu266Ter)
|
rs2103330255
|
|
|
NM_005378.6(MYCN):c.845_846del (p.Val282fs)
|
rs1572220856
|
|
|
NM_005378.6(MYCN):c.91G>A (p.Asp31Asn)
|
|
|
|
NM_005422.4(TECTA):c.102del (p.Asn34fs)
|
rs2135050168
|
|
|
NM_005422.4(TECTA):c.1247_1248del (p.Gly416fs)
|
rs773573968
|
|
|
NM_005422.4(TECTA):c.1301G>T (p.Gly434Val)
|
|
|
|
NM_005422.4(TECTA):c.1774G>A (p.Val592Met)
|
rs1565522273
|
|
|
NM_005422.4(TECTA):c.2736C>A (p.Cys912Ter)
|
rs368050948
|
|
|
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser)
|
rs121909059
|
|
|
NM_005422.4(TECTA):c.5510G>A (p.Cys1837Tyr)
|
rs1947056659
|
|
|
NM_005422.4(TECTA):c.5539T>C (p.Ser1847Pro)
|
rs1947057220
|
|
|
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys)
|
rs121909063
|
|
|
NM_005422.4(TECTA):c.568A>C (p.Thr190Pro)
|
|
|
|
NM_005422.4(TECTA):c.569C>T (p.Thr190Met)
|
|
|
|
NM_005422.4(TECTA):c.6162+5G>A
|
rs1565541888
|
|
|
NM_005422.4(TECTA):c.840_841insT (p.Val281fs)
|
rs1565519673
|
|
|
NM_005450.6(NOG):c.104C>G (p.Pro35Arg)
|
rs104894611
|
|
|
NM_005450.6(NOG):c.509del (p.Pro170fs)
|
|
|
|
NM_005450.6(NOG):c.553T>C (p.Ser185Pro)
|
|
|
|
NM_005450.6(NOG):c.554C>G (p.Ser185Cys)
|
rs2145567535
|
|
|
NM_005450.6(NOG):c.599T>C (p.Leu200Pro)
|
rs1567745111
|
|
|
NM_005450.6(NOG):c.611G>A (p.Arg204Gln)
|
rs104894610
|
|
|
NM_005573.4(LMNB1):c.814-1G>T
|
|
|
|
NM_005591.4(MRE11):c.1531_1532del (p.Asn511fs)
|
rs757691558
|
|
|
NM_005612.5(REST):c.1244G>C (p.Cys415Ser)
|
rs2109573013
|
|
|
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys)
|
rs2149946003
|
|
|
NM_005654.6(NR2F1):c.1065C>G (p.Tyr355Ter)
|
rs763566932
|
|
|
NM_005654.6(NR2F1):c.1096C>T (p.Arg366Cys)
|
|
|
|
NM_005654.6(NR2F1):c.1097G>A (p.Arg366His)
|
rs1753373048
|
|
|
NM_005654.6(NR2F1):c.1115T>C (p.Leu372Pro)
|
rs1554075105
|
|
|
NM_005654.6(NR2F1):c.1181T>G (p.Val394Gly)
|
rs2149946121
|
|
|
NM_005654.6(NR2F1):c.1205_1206del (p.Leu402fs)
|
|
|
|
NM_005654.6(NR2F1):c.208_211del (p.Lys70fs)
|
rs2149941524
|
|
|
NM_005654.6(NR2F1):c.244C>T (p.Gln82Ter)
|
rs2149941551
|
|
|
NM_005654.6(NR2F1):c.256T>C (p.Cys86Arg)
|
rs1753210329
|
|
|
NM_005654.6(NR2F1):c.265T>G (p.Cys89Gly)
|
|
|
|
NM_005654.6(NR2F1):c.266G>A (p.Cys89Tyr)
|
|
|
|
NM_005654.6(NR2F1):c.289C>G (p.His97Asp)
|
rs1287146448
|
|
|
NM_005654.6(NR2F1):c.289C>T (p.His97Tyr)
|
rs1287146448
|
|
|
NM_005654.6(NR2F1):c.310G>A (p.Glu104Lys)
|
rs2149941603
|
|
|
NM_005654.6(NR2F1):c.311A>T (p.Glu104Val)
|
|
|
|
NM_005654.6(NR2F1):c.313G>A (p.Gly105Ser)
|
rs1554074677
|
|
|
NM_005654.6(NR2F1):c.314G>C (p.Gly105Ala)
|
|
|
|
NM_005654.6(NR2F1):c.327C>A (p.Phe109Leu)
|
rs1753211889
|
|
|
NM_005654.6(NR2F1):c.331A>G (p.Lys111Glu)
|
rs2149941611
|
|
|
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys)
|
rs587777277
|
|
|
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg)
|
rs587777275
|
|
|
NM_005654.6(NR2F1):c.340G>C (p.Val114Leu)
|
|
|
|
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro)
|
rs587777274
|
|
|
NM_005654.6(NR2F1):c.382T>C (p.Cys128Arg)
|
rs863224903
|
|
|
NM_005654.6(NR2F1):c.421T>G (p.Cys141Gly)
|
|
|
|
NM_005654.6(NR2F1):c.425G>A (p.Arg142His)
|
rs1554074684
|
|
|
NM_005654.6(NR2F1):c.452T>C (p.Met151Thr)
|
|
|
|
NM_005654.6(NR2F1):c.453G>A (p.Met151Ile)
|
|
|
|
NM_005654.6(NR2F1):c.453G>C (p.Met151Ile)
|
rs1580358677
|
|
|
NM_005654.6(NR2F1):c.463+1G>A
|
rs1753213365
|
|
|
NM_005654.6(NR2F1):c.497C>T (p.Pro166Leu)
|
rs1753260850
|
|
|
NM_005654.6(NR2F1):c.729_730delinsCT (p.Gln244Ter)
|
rs1554074850
|
|
|
NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro)
|
rs587777276
|
|
|
NM_005654.6(NR2F1):c.90_99del (p.Arg31fs)
|
rs1580358347
|
|
|
NM_005654.6(NR2F1):c.986_990del (p.Thr329fs)
|
rs1753268855
|
|
|
NM_005732.4(RAD50):c.1635dup (p.Ala546fs)
|
rs1750698269
|
|
|
NM_005859.5(PURA):c.-12_25del (p.Met1fs)
|
rs1763033823
|
|
|
NM_005859.5(PURA):c.15del (p.Asp5fs)
|
rs2126748515
|
|
|
NM_005859.5(PURA):c.190A>T (p.Lys64Ter)
|
|
|
|
NM_005859.5(PURA):c.197T>C (p.Val66Ala)
|
|
|
|
NM_005859.5(PURA):c.1A>G (p.Met1Val)
|
rs793888530
|
|
|
NM_005859.5(PURA):c.215G>C (p.Arg72Pro)
|
|
|
|
NM_005859.5(PURA):c.227A>C (p.Asp76Ala)
|
|
|
|
NM_005859.5(PURA):c.227A>T (p.Asp76Val)
|
|
|
|
NM_005859.5(PURA):c.259A>G (p.Lys87Glu)
|
|
|
|
NM_005859.5(PURA):c.272T>G (p.Val91Gly)
|
|
|
|
NM_005859.5(PURA):c.273_328del (p.Gly92fs)
|
|
|
|
NM_005859.5(PURA):c.298_315del (p.Leu100_Ser105del)
|
rs1763043820
|
|
|
NM_005859.5(PURA):c.299T>C (p.Leu100Pro)
|
rs587782995
|
|
|
NM_005859.5(PURA):c.305T>C (p.Leu102Pro)
|
rs793888531
|
|
|
NM_005859.5(PURA):c.309_314del (p.Met104_Ser105del)
|
|
|
|
NM_005859.5(PURA):c.383_386dup (p.Pro130fs)
|
rs2126748986
|
|
|
NM_005859.5(PURA):c.407_420dup (p.Ala142fs)
|
rs1561793219
|
|
|
NM_005859.5(PURA):c.430A>G (p.Lys144Glu)
|
rs1581036396
|
|
|
NM_005859.5(PURA):c.449_456del (p.Arg150fs)
|
rs1581036405
|
|
|
NM_005859.5(PURA):c.452_473del (p.Glu151fs)
|
|
|
|
NM_005859.5(PURA):c.45_60dup (p.Leu21fs)
|
rs1581036015
|
|
|
NM_005859.5(PURA):c.469A>G (p.Met157Val)
|
rs2126749113
|
|
|
NM_005859.5(PURA):c.493G>A (p.Gly165Ser)
|
rs1561793272
|
|
|
NM_005859.5(PURA):c.496C>T (p.Arg166Cys)
|
rs1554129096
|
|
|
NM_005859.5(PURA):c.4_7dup (p.Asp3fs)
|
|
|
|
NM_005859.5(PURA):c.503T>C (p.Leu168Pro)
|
rs1581036449
|
|
|
NM_005859.5(PURA):c.50C>A (p.Ser17Ter)
|
rs1346561117
|
|
|
NM_005859.5(PURA):c.50del (p.Ser17fs)
|
rs1554129008
|
|
|
NM_005859.5(PURA):c.511C>G (p.Arg171Gly)
|
rs1554129100
|
|
|
NM_005859.5(PURA):c.540_544dup (p.Ser182fs)
|
|
|
|
NM_005859.5(PURA):c.563T>C (p.Ile188Thr)
|
rs793888527
|
|
|
NM_005859.5(PURA):c.563_578del (p.Ile188fs)
|
rs2126749241
|
|
|
NM_005859.5(PURA):c.565G>C (p.Ala189Pro)
|
rs1581036496
|
|
|
NM_005859.5(PURA):c.577C>T (p.Gln193Ter)
|
|
|
|
NM_005859.5(PURA):c.580G>T (p.Gly194Trp)
|
|
|
|
NM_005859.5(PURA):c.586_588del (p.Ile196del)
|
|
|
|
NM_005859.5(PURA):c.596G>C (p.Arg199Pro)
|
rs587783001
|
|
|
NM_005859.5(PURA):c.605T>C (p.Leu202Pro)
|
rs1561793336
|
|
|
NM_005859.5(PURA):c.614T>C (p.Leu205Pro)
|
rs1581036537
|
|
|
NM_005859.5(PURA):c.657del (p.Glu220fs)
|
|
|
|
NM_005859.5(PURA):c.66del (p.His23fs)
|
rs1581036051
|
|
|
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)
|
rs786204835
|
|
|
NM_005859.5(PURA):c.692T>G (p.Phe231Cys)
|
rs1554129113
|
|
|
NM_005859.5(PURA):c.710C>T (p.Ser237Phe)
|
rs886039899
|
|
|
NM_005859.5(PURA):c.779C>G (p.Pro260Arg)
|
rs1064795567
|
|
|
NM_005859.5(PURA):c.791G>C (p.Trp264Ser)
|
|
|
|
NM_005859.5(PURA):c.824C>A (p.Ser275Ter)
|
rs2126749442
|
|
|
NM_005861.4(STUB1):c.170C>T (p.Pro57Leu)
|
rs2151504167
|
|
|
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser)
|
rs690016544
|
|
|
NM_005861.4(STUB1):c.3G>T (p.Met1Ile)
|
|
|
|
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)
|
rs779647632
|
|
|
NM_005861.4(STUB1):c.525-1G>A
|
rs2151505158
|
|
|
NM_005861.4(STUB1):c.646dup (p.Ser216fs)
|
rs1555475283
|
|
|
NM_005861.4(STUB1):c.721C>T (p.Arg241Trp)
|
rs760424025
|
|
|
NM_005861.4(STUB1):c.760C>G (p.Arg254Gly)
|
rs770730338
|
|
|
NM_005861.4(STUB1):c.784C>T (p.Gln262Ter)
|
|
|
|
NM_005861.4(STUB1):c.807dup (p.Val270fs)
|
rs2151507049
|
|
|
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln)
|
rs1376334317
|
|
|
NM_005862.3(STAG1):c.1129C>T (p.Arg377Cys)
|
rs1559824939
|
|
|
NM_005862.3(STAG1):c.1433A>T (p.His478Leu)
|
|
|
|
NM_005862.3(STAG1):c.1716dup (p.Ile573fs)
|
|
|
|
NM_005862.3(STAG1):c.1962dup (p.Asp655Ter)
|
|
|
|
NM_005862.3(STAG1):c.2009_2012del (p.Asn670fs)
|
rs1559791842
|
|
|
NM_005862.3(STAG1):c.2557dup (p.Glu853fs)
|
rs1560062082
|
|
|
NM_005862.3(STAG1):c.3241C>T (p.Arg1081Ter)
|
|
|
|
NM_005862.3(STAG1):c.3261del (p.Lys1087fs)
|
rs1553789166
|
|
|
NM_005862.3(STAG1):c.3691C>T (p.Arg1231Ter)
|
|
|
|
NM_005862.3(STAG1):c.418C>T (p.Arg140Ter)
|
|
|
|
NM_005862.3(STAG1):c.513del (p.Gln170_Trp171insTer)
|
rs2107905668
|
|
|
NM_005862.3(STAG1):c.625G>C (p.Gly209Arg)
|
rs2107905472
|
|
|
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly)
|
rs1553738686
|
|
|
NM_005901.6(SMAD2):c.1059T>G (p.Ser353Arg)
|
|
|
|
NM_005901.6(SMAD2):c.237-2A>G
|
|
|
|
NM_005901.6(SMAD2):c.507_508del (p.Arg169fs)
|
|
|
|
NM_005901.6(SMAD2):c.908C>G (p.Thr303Arg)
|
rs2144300077
|
|
|
NM_005902.4(SMAD3):c.1094A>T (p.Gln365Leu)
|
rs1595962708
|
|
|
NM_005902.4(SMAD3):c.1157G>C (p.Arg386Thr)
|
rs1567005489
|
|
|
NM_005902.4(SMAD3):c.1243G>C (p.Gly415Arg)
|
rs886038961
|
|
|
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn)
|
rs1555414503
|
|
|
NM_005902.4(SMAD3):c.1268G>C (p.Ser423Thr)
|
|
|
|
NM_005902.4(SMAD3):c.1A>T (p.Met1Leu)
|
rs1555405092
|
|
|
NM_005902.4(SMAD3):c.200T>G (p.Ile67Ser)
|
|
|
|
NM_005902.4(SMAD3):c.206+1G>C
|
rs770098673
|
|
|
NM_005902.4(SMAD3):c.269G>A (p.Arg90His)
|
rs886038803
|
|
|
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln)
|
rs863223765
|
|
|
NM_005902.4(SMAD3):c.2T>C (p.Met1Thr)
|
|
|
|
NM_005902.4(SMAD3):c.303_304insTC (p.Glu102fs)
|
|
|
|
NM_005902.4(SMAD3):c.304G>T (p.Glu102Ter)
|
rs1962537574
|
|
|
NM_005902.4(SMAD3):c.334_335delinsCT (p.Ala112Leu)
|
rs1595941823
|
|
|
NM_005902.4(SMAD3):c.364G>A (p.Val122Met)
|
rs587782977
|
|
|
NM_005902.4(SMAD3):c.3G>A (p.Met1Ile)
|
rs2140188685
|
|
|
NM_005902.4(SMAD3):c.435_436del (p.Glu145fs)
|
|
|
|
NM_005902.4(SMAD3):c.445_455del (p.Glu149fs)
|
rs2140294805
|
|
|
NM_005902.4(SMAD3):c.532+1G>C
|
rs2140295070
|
|
|
NM_005902.4(SMAD3):c.608-4_611del
|
|
|
|
NM_005902.4(SMAD3):c.677A>C (p.Tyr226Ser)
|
|
|
|
NM_005902.4(SMAD3):c.67C>T (p.Gln23Ter)
|
|
|
|
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys)
|
rs387906853
|
|
|
NM_005902.4(SMAD3):c.770_771del (p.Val257fs)
|
|
|
|
NM_005902.4(SMAD3):c.785del (p.Asp262fs)
|
|
|
|
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu)
|
rs387906855
|
|
|
NM_005902.4(SMAD3):c.789del (p.Ser264fs)
|
rs1963050712
|
|
|
NM_005902.4(SMAD3):c.808_812delinsAGA (p.Cys270fs)
|
rs2140314299
|
|
|
NM_005902.4(SMAD3):c.814G>C (p.Gly272Arg)
|
rs1057524127
|
|
|
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp)
|
rs387906850
|
|
|
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)
|
rs730880214
|
|
|
NM_005902.4(SMAD3):c.871+2T>C
|
rs863223761
|
|
|
NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg)
|
rs730880215
|
|
|
NM_005902.4(SMAD3):c.916G>T (p.Glu306Ter)
|
|
|
|
NM_005902.4(SMAD3):c.946C>T (p.Gln316Ter)
|
rs1595960447
|
|
|
NM_005902.4(SMAD3):c.991G>T (p.Val331Phe)
|
rs1320208623
|
|
|
NM_005909.5(MAP1B):c.2995C>T (p.Arg999Ter)
|
|
|
|
NM_005982.4(SIX1):c.316G>T (p.Val106Leu)
|
rs2140241235
|
|
|
NM_005982.4(SIX1):c.329G>T (p.Arg110Leu)
|
rs1064794308
|
|
|
NM_005982.4(SIX1):c.353C>T (p.Pro118Leu)
|
|
|
|
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)
|
rs797044960
|
|
|
NM_005982.4(SIX1):c.385T>C (p.Tyr129His)
|
|
|
|
NM_005982.4(SIX1):c.397_399del (p.Glu133del)
|
rs80356460
|
|
|
NM_005982.4(SIX1):c.460A>T (p.Lys154Ter)
|
rs1060499595
|
|
|
NM_005982.4(SIX1):c.500A>G (p.Gln167Arg)
|
|
|
|
NM_006005.3(WFS1):c.1228del (p.Leu410fs)
|
|
|
|
NM_006005.3(WFS1):c.1500_1501insAGCGTCCCGTGCCTGTCGGCCACCTGGTCGTCCTCAAT (p.Val501fs)
|
|
|
|
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del)
|
rs781262017
|
|
|
NM_006005.3(WFS1):c.1538_1539dup (p.Leu514fs)
|
|
|
|
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del)
|
rs777904670
|
|
|
NM_006005.3(WFS1):c.1544_1545insA (p.Phe515fs)
|
|
|
|
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer)
|
rs1560419631
|
|
|
NM_006005.3(WFS1):c.1628T>G (p.Leu543Arg)
|
|
|
|
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1])
|
rs797046113
|
|
|
NM_006005.3(WFS1):c.1699_1704del (p.565LF[1])
|
|
|
|
NM_006005.3(WFS1):c.1846dup (p.Ala616fs)
|
|
|
|
NM_006005.3(WFS1):c.1990_1991del (p.Leu664fs)
|
|
|
|
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)
|
rs387906930
|
|
|
NM_006005.3(WFS1):c.2069G>A (p.Cys690Tyr)
|
|
|
|
NM_006005.3(WFS1):c.2070_2079del (p.Cys690fs)
|
|
|
|
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val)
|
rs28937891
|
|
|
NM_006005.3(WFS1):c.2141A>G (p.Asn714Ser)
|
|
|
|
NM_006005.3(WFS1):c.2314_2315insT (p.Arg772fs)
|
|
|
|
NM_006005.3(WFS1):c.2321dup (p.Phe775fs)
|
|
|
|
NM_006005.3(WFS1):c.2336T>G (p.Val779Gly)
|
|
|
|
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn)
|
rs1553879004
|
|
|
NM_006005.3(WFS1):c.2411T>C (p.Leu804Pro)
|
rs1131691778
|
|
|
NM_006005.3(WFS1):c.2455_2502del (p.Gln819_Gly834del)
|
|
|
|
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)
|
rs104893883
|
|
|
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)
|
rs74315205
|
|
|
NM_006005.3(WFS1):c.2605_2616dup (p.His872_Gly873insSerThrValHis)
|
|
|
|
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs)
|
rs1560422383
|
|
|
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter)
|
rs764993824
|
|
|
NM_006005.3(WFS1):c.559C>T (p.Leu187Phe)
|
|
|
|
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del)
|
rs752461187
|
|
|
NM_006005.3(WFS1):c.578dup (p.Gln194fs)
|
rs779272128
|
|
|
NM_006005.3(WFS1):c.643C>T (p.Gln215Ter)
|
|
|
|
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer)
|
rs863224264
|
|
|
NM_006005.3(WFS1):c.9dup (p.Asn4fs)
|
rs2109107823
|
|
|
NM_006015.6(ARID1A):c.1920+3_1920+6del
|
rs2124792810
|
|
|
NM_006015.6(ARID1A):c.1920+5G>A
|
rs1064796564
|
|
|
NM_006015.6(ARID1A):c.3033G>T (p.Leu1011Phe)
|
rs1553152590
|
|
|
NM_006015.6(ARID1A):c.3044G>T (p.Gly1015Val)
|
|
|
|
NM_006015.6(ARID1A):c.3067T>C (p.Trp1023Arg)
|
rs1557612048
|
|
|
NM_006015.6(ARID1A):c.3067T>G (p.Trp1023Gly)
|
|
|
|
NM_006015.6(ARID1A):c.3146T>G (p.Leu1049Arg)
|
rs2124087389
|
|
|
NM_006015.6(ARID1A):c.3148G>T (p.Asp1050Tyr)
|
rs1570609440
|
|
|
NM_006015.6(ARID1A):c.3169T>C (p.Ser1057Pro)
|
rs2124087634
|
|
|
NM_006015.6(ARID1A):c.3198+2T>A
|
|
|
|
NM_006015.6(ARID1A):c.3198+2dup
|
|
|
|
NM_006015.6(ARID1A):c.3199-15G>A
|
|
|
|
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu)
|
rs1030084592
|
|
|
NM_006015.6(ARID1A):c.3287A>G (p.Tyr1096Cys)
|
|
|
|
NM_006015.6(ARID1A):c.3898_3899del (p.Met1300fs)
|
|
|
|
NM_006015.6(ARID1A):c.4049del (p.Ser1350fs)
|
rs2124114899
|
|
|
NM_006015.6(ARID1A):c.4102-1G>C
|
rs2081113293
|
|
|
NM_006015.6(ARID1A):c.4839_4867del (p.Met1613fs)
|
|
|
|
NM_006015.6(ARID1A):c.4860dup (p.Pro1621fs)
|
rs1553153291
|
|
|
NM_006015.6(ARID1A):c.5121_5124del (p.Gln1708fs)
|
|
|
|
NM_006015.6(ARID1A):c.5138T>C (p.Leu1713Pro)
|
rs797045264
|
|
|
NM_006015.6(ARID1A):c.5903_5904del (p.Cys1968fs)
|
|
|
|
NM_006015.6(ARID1A):c.595C>T (p.Gln199Ter)
|
rs2124742621
|
|
|
NM_006015.6(ARID1A):c.5963T>C (p.Ile1988Thr)
|
rs2081174839
|
|
|
NM_006015.6(ARID1A):c.5965C>G (p.Arg1989Gly)
|
|
|
|
NM_006015.6(ARID1A):c.6099GGA[2] (p.Glu2036del)
|
rs2081176133
|
|
|
NM_006015.6(ARID1A):c.6196A>T (p.Asn2066Tyr)
|
rs1570622663
|
|
|
NM_006015.6(ARID1A):c.6200T>C (p.Ile2067Thr)
|
|
|
|
NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys)
|
rs869312956
|
|
|
NM_006015.6(ARID1A):c.6490C>T (p.Arg2164Trp)
|
rs2124149645
|
|
|
NM_006015.6(ARID1A):c.6518A>T (p.Asn2173Ile)
|
rs1553153783
|
|
|
NM_006015.6(ARID1A):c.88C>T (p.Gln30Ter)
|
|
|
|
NM_006016.6(CD164):c.574C>T (p.Arg192Ter)
|
rs876661402
|
|
|
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)
|
rs137853006
|
|
|
NM_006017.3(PROM1):c.1709dup (p.Tyr570Ter)
|
|
|
|
NM_006017.3(PROM1):c.1975_1978del (p.Asn659fs)
|
|
|
|
NM_006017.3(PROM1):c.1984-1G>A
|
|
|
|
NM_006017.3(PROM1):c.2366del (p.Asp789fs)
|
|
|
|
NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr)
|
rs57837128
|
|
|
NM_006121.4(KRT1):c.1453C>T (p.Leu485Phe)
|
rs1555171247
|
|
|
NM_006121.4(KRT1):c.532T>C (p.Ser178Pro)
|
rs1941559064
|
|
|
NM_006121.4(KRT1):c.563A>G (p.Asn188Ser)
|
rs58928370
|
|
|
NM_006121.4(KRT1):c.563A>T (p.Asn188Ile)
|
rs58928370
|
|
|
NM_006121.4(KRT1):c.564C>G (p.Asn188Lys)
|
rs59429455
|
|
|
NM_006133.3(DAGLA):c.2437_2446del (p.Leu813fs)
|
|
|
|
NM_006147.4(IRF6):c.1060+1G>A
|
rs781506407
|
|
|
NM_006147.4(IRF6):c.1060+2T>C
|
|
|
|
NM_006147.4(IRF6):c.1121G>A (p.Cys374Tyr)
|
rs2077857680
|
|
|
NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys)
|
rs769068305
|
|
|
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln)
|
rs121434229
|
|
|
NM_006147.4(IRF6):c.169T>C (p.Phe57Leu)
|
rs2077939791
|
|
|
NM_006147.4(IRF6):c.175G>T (p.Ala59Ser)
|
|
|
|
NM_006147.4(IRF6):c.232A>G (p.Lys78Glu)
|
rs1553248271
|
|
|
NM_006147.4(IRF6):c.269G>C (p.Ser90Thr)
|
rs2102542857
|
|
|
NM_006147.4(IRF6):c.292G>C (p.Asp98His)
|
rs1571983348
|
|
|
NM_006147.4(IRF6):c.329T>C (p.Ile110Thr)
|
|
|
|
NM_006147.4(IRF6):c.509-1G>A
|
|
|
|
NM_006147.4(IRF6):c.760G>A (p.Gly254Arg)
|
|
|
|
NM_006147.4(IRF6):c.827T>C (p.Phe276Ser)
|
|
|
|
NM_006147.4(IRF6):c.859C>T (p.Gln287Ter)
|
rs886039391
|
|
|
NM_006147.4(IRF6):c.889G>A (p.Val297Ile)
|
rs779827384
|
|
|
NM_006147.4(IRF6):c.911T>C (p.Leu304Pro)
|
rs1064793154
|
|
|
NM_006147.4(IRF6):c.928G>C (p.Ala310Pro)
|
|
|
|
NM_006147.4(IRF6):c.950G>A (p.Cys317Tyr)
|
rs1571979607
|
|
|
NM_006147.4(IRF6):c.961G>A (p.Val321Met)
|
rs2102536882
|
|
|
NM_006208.3(ENPP1):c.124del (p.Asp42fs)
|
|
|
|
NM_006208.3(ENPP1):c.1366C>T (p.Arg456Ter)
|
rs1258544339
|
|
|
NM_006208.3(ENPP1):c.1709A>G (p.Tyr570Cys)
|
|
|
|
NM_006208.3(ENPP1):c.2312-1G>A
|
|
|
|
NM_006208.3(ENPP1):c.2479_2482dup (p.Pro828fs)
|
|
|
|
NM_006208.3(ENPP1):c.2596G>A (p.Glu866Lys)
|
|
|
|
NM_006208.3(ENPP1):c.2631G>A (p.Trp877Ter)
|
|
|
|
NM_006208.3(ENPP1):c.2T>G (p.Met1Arg)
|
|
|
|
NM_006208.3(ENPP1):c.313+1G>A
|
|
|
|
NM_006208.3(ENPP1):c.6del (p.Glu2fs)
|
|
|
|
NM_006208.3(ENPP1):c.769_770del (p.Phe257fs)
|
|
|
|
NM_006218.4(PIK3CA):c.2597T>G (p.Leu866Trp)
|
rs1576947658
|
|
|
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)
|
rs587776932
|
|
|
NM_006218.4(PIK3CA):c.2908G>A (p.Glu970Lys)
|
rs2108425281
|
|
|
NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu)
|
rs863225060
|
|
|
NM_006218.4(PIK3CA):c.3145G>T (p.Gly1049Cys)
|
rs121913277
|
|
|
NM_006245.4(PPP2R5D):c.391T>G (p.Phe131Val)
|
|
|
|
NM_006245.4(PPP2R5D):c.570_605del (p.Gly191_Thr202del)
|
|
|
|
NM_006245.4(PPP2R5D):c.589G>A (p.Glu197Lys)
|
rs863225081
|
|
|
NM_006245.4(PPP2R5D):c.590A>G (p.Glu197Gly)
|
rs1339608272
|
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
|
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)
|
rs863225079
|
|
|
NM_006245.4(PPP2R5D):c.599_602delinsGGCA (p.Glu200_Pro201delinsGlyHis)
|
rs1762135444
|
|
|
NM_006245.4(PPP2R5D):c.608T>C (p.Leu203Pro)
|
|
|
|
NM_006245.4(PPP2R5D):c.621G>C (p.Trp207Cys)
|
rs2150278805
|
|
|
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)
|
rs1762136390
|
|
|
NM_006245.4(PPP2R5D):c.649T>C (p.Phe217Leu)
|
|
|
|
NM_006245.4(PPP2R5D):c.748G>A (p.Glu250Lys)
|
rs1762178779
|
|
|
NM_006245.4(PPP2R5D):c.751G>A (p.Asp251Asn)
|
rs1762178916
|
|
|
NM_006245.4(PPP2R5D):c.751G>C (p.Asp251His)
|
rs1762178916
|
|
|
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr)
|
rs1762178916
|
|
|
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val)
|
rs1064794719
|
|
|
NM_006363.6(SEC23B):c.1109+1G>C
|
|
|
|
NM_006363.6(SEC23B):c.1233_1233+1dup
|
|
|
|
NM_006363.6(SEC23B):c.1314+1G>A
|
|
|
|
NM_006363.6(SEC23B):c.1314_1314+10del
|
|
|
|
NM_006363.6(SEC23B):c.1404+5G>A
|
rs1555789463
|
|
|
NM_006363.6(SEC23B):c.1511+2_1511+5del
|
|
|
|
NM_006363.6(SEC23B):c.1512-2A>T
|
|
|
|
NM_006363.6(SEC23B):c.1589G>A (p.Arg530Gln)
|
|
|
|
NM_006363.6(SEC23B):c.1616_1617del (p.Glu539fs)
|
|
|
|
NM_006363.6(SEC23B):c.1905+1G>A
|
|
|
|
NM_006363.6(SEC23B):c.2074_2077dup (p.Asp693delinsGlyTer)
|
|
|
|
NM_006363.6(SEC23B):c.221+1G>A
|
|
|
|
NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)
|
|
|
|
NM_006363.6(SEC23B):c.2262del (p.Phe754fs)
|
|
|
|
NM_006363.6(SEC23B):c.279+1G>A
|
|
|
|
NM_006363.6(SEC23B):c.366+1G>A
|
|
|
|
NM_006363.6(SEC23B):c.367-1G>T
|
|
|
|
NM_006363.6(SEC23B):c.454C>T (p.Gln152Ter)
|
|
|
|
NM_006363.6(SEC23B):c.664C>T (p.Gln222Ter)
|
|
|
|
NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter)
|
|
|
|
NM_006363.6(SEC23B):c.937C>T (p.Arg313Cys)
|
|
|
|
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser)
|
rs143417821
|
|
|
NM_006363.6(SEC23B):c.994-1G>T
|
|
|
|
NM_006383.4(CIB2):c.297C>G (p.Cys99Trp)
|
rs370965183
|
|
|
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)
|
rs13306758
|
|
|
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)
|
rs80359818
|
|
|
NM_006516.4(SLC2A1):c.680-12C>A
|
|
|
|
NM_006565.4(CTCF):c.-3_2delinsTC (p.Met1del)
|
rs2142822830
|
|
|
NM_006565.4(CTCF):c.1006G>C (p.Glu336Gln)
|
rs2142839453
|
|
|
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln)
|
rs1567610917
|
|
|
NM_006565.4(CTCF):c.1025G>A (p.Arg342His)
|
rs1002125753
|
|
|
NM_006565.4(CTCF):c.1079G>T (p.Ser360Ile)
|
rs1597718106
|
|
|
NM_006565.4(CTCF):c.1118A>C (p.His373Pro)
|
rs2142847343
|
|
|
NM_006565.4(CTCF):c.1119T>A (p.His373Gln)
|
rs2142847350
|
|
|
NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu)
|
rs2142847512
|
|
|
NM_006565.4(CTCF):c.1169A>G (p.Asp390Gly)
|
|
|
|
NM_006565.4(CTCF):c.1226G>A (p.Cys409Tyr)
|
rs2142849459
|
|
|
NM_006565.4(CTCF):c.1342C>T (p.Arg448Ter)
|
|
|
|
NM_006565.4(CTCF):c.1365C>G (p.His455Gln)
|
rs1597725291
|
|
|
NM_006565.4(CTCF):c.1376A>C (p.Gln459Pro)
|
|
|
|
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp)
|
rs879255516
|
|
|
NM_006565.4(CTCF):c.1960C>T (p.Arg654Ter)
|
rs2142887156
|
|
|
NM_006565.4(CTCF):c.293T>G (p.Leu98Ter)
|
|
|
|
NM_006565.4(CTCF):c.298del (p.Val100fs)
|
|
|
|
NM_006565.4(CTCF):c.442dup (p.Ala148fs)
|
|
|
|
NM_006565.4(CTCF):c.721_722del (p.Asn241fs)
|
|
|
|
NM_006565.4(CTCF):c.782-1G>A
|
|
|
|
NM_006565.4(CTCF):c.782-1G>C
|
rs2142827936
|
|
|
NM_006565.4(CTCF):c.782-1G>T
|
rs2142827936
|
|
|
NM_006565.4(CTCF):c.782-2A>G
|
rs1555534189
|
|
|
NM_006565.4(CTCF):c.848G>A (p.Arg283His)
|
rs1567609067
|
|
|
NM_006565.4(CTCF):c.867_868dup (p.Asp290fs)
|
|
|
|
NM_006565.4(CTCF):c.881A>C (p.His294Pro)
|
rs2052068772
|
|
|
NM_006565.4(CTCF):c.958C>G (p.Arg320Gly)
|
rs1161257134
|
|
|
NM_006565.4(CTCF):c.979T>A (p.Cys327Ser)
|
rs2052136913
|
|
|
NM_006734.4(HIVEP2):c.117del (p.Phe39fs)
|
|
|
|
NM_006734.4(HIVEP2):c.1189G>T (p.Asp397Tyr)
|
rs869312847
|
|
|
NM_006734.4(HIVEP2):c.1762C>T (p.Arg588Cys)
|
|
|
|
NM_006734.4(HIVEP2):c.2367del (p.Gly791fs)
|
|
|
|
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter)
|
rs869312841
|
|
|
NM_006734.4(HIVEP2):c.2925del (p.His975fs)
|
|
|
|
NM_006734.4(HIVEP2):c.3490C>T (p.Gln1164Ter)
|
|
|
|
NM_006734.4(HIVEP2):c.3678dup (p.Gln1227fs)
|
|
|
|
NM_006734.4(HIVEP2):c.4655del (p.Pro1552fs)
|
|
|
|
NM_006734.4(HIVEP2):c.5188-1del
|
|
|
|
NM_006734.4(HIVEP2):c.5620+1GT[2]
|
rs1775234925
|
|
|
NM_006734.4(HIVEP2):c.5935C>T (p.Arg1979Ter)
|
rs1554275163
|
|
|
NM_006734.4(HIVEP2):c.6564del (p.Asp2189fs)
|
|
|
|
NM_006734.4(HIVEP2):c.6964C>T (p.Gln2322Ter)
|
rs1554274371
|
|
|
NM_006757.4(TNNT3):c.187C>A (p.Arg63Ser)
|
rs199474721
|
|
|
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys)
|
rs199474721
|
|
|
NM_006757.4(TNNT3):c.188G>A (p.Arg63His)
|
rs121434638
|
|
|
NM_006766.5(KAT6A):c.1039_1040del (p.Thr347fs)
|
|
|
|
NM_006766.5(KAT6A):c.152T>C (p.Leu51Ser)
|
|
|
|
NM_006766.5(KAT6A):c.1907_1908del (p.Lys636fs)
|
|
|
|
NM_006766.5(KAT6A):c.2218del (p.Arg740fs)
|
rs1587723169
|
|
|
NM_006766.5(KAT6A):c.2378del (p.Glu793fs)
|
|
|
|
NM_006766.5(KAT6A):c.2734C>T (p.Gln912Ter)
|
|
|
|
NM_006766.5(KAT6A):c.2842C>T (p.Arg948Ter)
|
rs1211232252
|
|
|
NM_006766.5(KAT6A):c.3055C>T (p.Arg1019Ter)
|
rs1554680902
|
|
|
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter)
|
rs886042000
|
|
|
NM_006766.5(KAT6A):c.3596del (p.Gly1199fs)
|
rs1554680188
|
|
|
NM_006766.5(KAT6A):c.3721del (p.Glu1241fs)
|
|
|
|
NM_006766.5(KAT6A):c.3887dup (p.Glu1297fs)
|
|
|
|
NM_006766.5(KAT6A):c.3921_3922del (p.Glu1307fs)
|
rs2150856658
|
|
|
NM_006766.5(KAT6A):c.4070del (p.Gln1357fs)
|
rs1821721248
|
|
|
NM_006766.5(KAT6A):c.4229_4230del (p.Lys1410fs)
|
|
|
|
NM_006766.5(KAT6A):c.4297C>T (p.Gln1433Ter)
|
|
|
|
NM_006766.5(KAT6A):c.4348_4349del (p.Leu1450fs)
|
|
|
|
NM_006766.5(KAT6A):c.4352del (p.Ala1451fs)
|
|
|
|
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser)
|
rs1064794000
|
|
|
NM_006766.5(KAT6A):c.4664G>A (p.Ser1555Asn)
|
rs1821677301
|
|
|
NM_006766.5(KAT6A):c.4666A>T (p.Ile1556Phe)
|
rs1821677152
|
|
|
NM_006766.5(KAT6A):c.4667T>C (p.Ile1556Thr)
|
|
|
|
NM_006766.5(KAT6A):c.4688_4689del (p.Asn1562_Tyr1563insTer)
|
rs1554679726
|
|
|
NM_006766.5(KAT6A):c.4861C>T (p.Gln1621Ter)
|
rs2150855722
|
|
|
NM_006766.5(KAT6A):c.50T>C (p.Ile17Thr)
|
|
|
|
NM_006766.5(KAT6A):c.5123del (p.Asn1708fs)
|
rs2150855326
|
|
|
NM_006766.5(KAT6A):c.5161_5165del (p.Pro1721fs)
|
|
|
|
NM_006766.5(KAT6A):c.5235dup (p.Gln1746fs)
|
|
|
|
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter)
|
rs1395351821
|
|
|
NM_006766.5(KAT6A):c.772C>T (p.Gln258Ter)
|
|
|
|
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter)
|
rs1554688879
|
|
|
NM_006767.4(LZTR1):c.1005_1012del (p.Glu336fs)
|
rs753474547
|
|
|
NM_006767.4(LZTR1):c.1033G>T (p.Glu345Ter)
|
rs761956867
|
|
|
NM_006767.4(LZTR1):c.104C>A (p.Ser35Ter)
|
|
|
|
NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter)
|
rs751308379
|
|
|
NM_006767.4(LZTR1):c.1113del (p.Thr372fs)
|
|
|
|
NM_006767.4(LZTR1):c.1149+1G>A
|
rs767191322
|
|
|
NM_006767.4(LZTR1):c.1214del (p.Gly405fs)
|
|
|
|
NM_006767.4(LZTR1):c.1245_1246del (p.Glu415fs)
|
|
|
|
NM_006767.4(LZTR1):c.1272C>G (p.Tyr424Ter)
|
|
|
|
NM_006767.4(LZTR1):c.1353+1G>A
|
|
|
|
NM_006767.4(LZTR1):c.1353+1G>T
|
|
|
|
NM_006767.4(LZTR1):c.1360G>T (p.Glu454Ter)
|
|
|
|
NM_006767.4(LZTR1):c.1365C>A (p.Cys455Ter)
|
|
|
|
NM_006767.4(LZTR1):c.1373dup (p.His459fs)
|
rs1924703709
|
|
|
NM_006767.4(LZTR1):c.1426del (p.Gln476fs)
|
|
|
|
NM_006767.4(LZTR1):c.1449+2T>G
|
|
|
|
NM_006767.4(LZTR1):c.1462G>T (p.Glu488Ter)
|
|
|
|
NM_006767.4(LZTR1):c.1510dup (p.Ala504fs)
|
|
|
|
NM_006767.4(LZTR1):c.1556_1560dup (p.Phe521fs)
|
rs1924721014
|
|
|
NM_006767.4(LZTR1):c.1615+2T>C
|
|
|
|
NM_006767.4(LZTR1):c.1616-1G>A
|
|
|
|
NM_006767.4(LZTR1):c.1616-2A>G
|
rs1328046881
|
|
|
NM_006767.4(LZTR1):c.1616-2_1616-1delinsCC
|
|
|
|
NM_006767.4(LZTR1):c.1702C>T (p.Gln568Ter)
|
|
|
|
NM_006767.4(LZTR1):c.1753_1754del (p.Ser585fs)
|
|
|
|
NM_006767.4(LZTR1):c.1777C>T (p.Gln593Ter)
|
|
|
|
NM_006767.4(LZTR1):c.1799del (p.Asn600fs)
|
|
|
|
NM_006767.4(LZTR1):c.1802del (p.Phe601fs)
|
|
|
|
NM_006767.4(LZTR1):c.1842del (p.Met614fs)
|
|
|
|
NM_006767.4(LZTR1):c.184del (p.Glu62fs)
|
|
|
|
NM_006767.4(LZTR1):c.1863_1897del (p.Ser622fs)
|
|
|
|
NM_006767.4(LZTR1):c.1876_1883dup (p.Ile628fs)
|
|
|
|
NM_006767.4(LZTR1):c.18_30del (p.Ser6fs)
|
|
|
|
NM_006767.4(LZTR1):c.1900C>T (p.Gln634Ter)
|
|
|
|
NM_006767.4(LZTR1):c.1942+2T>C
|
|
|
|
NM_006767.4(LZTR1):c.1942G>T (p.Gly648Cys)
|
rs1417500183
|
|
|
NM_006767.4(LZTR1):c.1957C>T (p.Gln653Ter)
|
rs760312637
|
|
|
NM_006767.4(LZTR1):c.200+1G>C
|
|
|
|
NM_006767.4(LZTR1):c.200+1dup
|
|
|
|
NM_006767.4(LZTR1):c.200+2T>C
|
|
|
|
NM_006767.4(LZTR1):c.201-1G>A
|
|
|
|
NM_006767.4(LZTR1):c.2011_2012del (p.Leu671fs)
|
|
|
|
NM_006767.4(LZTR1):c.2050_2062delinsGGCCCCCA (p.Ile684fs)
|
|
|
|
NM_006767.4(LZTR1):c.2069+1G>A
|
|
|
|
NM_006767.4(LZTR1):c.2070del (p.Tyr691fs)
|
|
|
|
NM_006767.4(LZTR1):c.2073C>G (p.Tyr691Ter)
|
|
|
|
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln)
|
rs370638947
|
|
|
NM_006767.4(LZTR1):c.212del (p.His71fs)
|
|
|
|
NM_006767.4(LZTR1):c.2134G>T (p.Glu712Ter)
|
rs1409419929
|
|
|
NM_006767.4(LZTR1):c.2152C>T (p.Gln718Ter)
|
rs767482247
|
|
|
NM_006767.4(LZTR1):c.2189del (p.Gly730fs)
|
|
|
|
NM_006767.4(LZTR1):c.2239_2242del (p.Tyr747fs)
|
|
|
|
NM_006767.4(LZTR1):c.2244C>G (p.Tyr748Ter)
|
rs1682503990
|
|
|
NM_006767.4(LZTR1):c.263+3G>C
|
|
|
|
NM_006767.4(LZTR1):c.264-1G>A
|
|
|
|
NM_006767.4(LZTR1):c.320+1G>A
|
rs943939913
|
|
|
NM_006767.4(LZTR1):c.320+1G>C
|
rs943939913
|
|
|
NM_006767.4(LZTR1):c.352del (p.Arg118fs)
|
rs1486960809
|
|
|
NM_006767.4(LZTR1):c.361C>G (p.His121Asp)
|
rs1569154492
|
|
|
NM_006767.4(LZTR1):c.370GTC[1] (p.Val125del)
|
rs755783378
|
|
|
NM_006767.4(LZTR1):c.372_385del (p.Val125fs)
|
rs1924439391
|
|
|
NM_006767.4(LZTR1):c.394delinsAA (p.Val132fs)
|
|
|
|
NM_006767.4(LZTR1):c.400+1G>C
|
rs1555927561
|
|
|
NM_006767.4(LZTR1):c.400+2T>G
|
|
|
|
NM_006767.4(LZTR1):c.400G>C (p.Gly134Arg)
|
rs1440693988
|
|
|
NM_006767.4(LZTR1):c.401-1G>C
|
rs747225246
|
|
|
NM_006767.4(LZTR1):c.401-2A>C
|
|
|
|
NM_006767.4(LZTR1):c.421del (p.Tyr141fs)
|
|
|
|
NM_006767.4(LZTR1):c.423T>G (p.Tyr141Ter)
|
|
|
|
NM_006767.4(LZTR1):c.46del (p.Leu16fs)
|
rs35574094
|
|
|
NM_006767.4(LZTR1):c.516del (p.Val173fs)
|
|
|
|
NM_006767.4(LZTR1):c.537_538del (p.Ala180fs)
|
|
|
|
NM_006767.4(LZTR1):c.637del (p.Thr213fs)
|
|
|
|
NM_006767.4(LZTR1):c.649G>T (p.Glu217Ter)
|
rs1302923931
|
|
|
NM_006767.4(LZTR1):c.651+1G>A
|
|
|
|
NM_006767.4(LZTR1):c.665del (p.Gly222fs)
|
|
|
|
NM_006767.4(LZTR1):c.671_672insG (p.Ile224fs)
|
|
|
|
NM_006767.4(LZTR1):c.677dup (p.Ser227fs)
|
rs777054968
|
|
|
NM_006767.4(LZTR1):c.684C>A (p.Cys228Ter)
|
|
|
|
NM_006767.4(LZTR1):c.708C>A (p.Cys236Ter)
|
rs2147964053
|
|
|
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
|
rs869320686
|
|
|
NM_006767.4(LZTR1):c.774del (p.Phe258fs)
|
rs780267761
|
|
|
NM_006767.4(LZTR1):c.791+1G>T
|
|
|
|
NM_006767.4(LZTR1):c.800_801del (p.Arg267fs)
|
|
|
|
NM_006767.4(LZTR1):c.855C>A (p.Tyr285Ter)
|
|
|
|
NM_006767.4(LZTR1):c.890_891del (p.Tyr297fs)
|
rs767445373
|
|
|
NM_006767.4(LZTR1):c.978_985del (p.Ser327fs)
|
|
|
|
NM_006767.4(LZTR1):c.994-1G>A
|
|
|
|
NM_006767.4(LZTR1):c.994-1G>T
|
rs758238174
|
|
|
NM_006767.4(LZTR1):c.994-2A>T
|
|
|
|
NM_006772.2(SYNGAP1):c.1532_1534del
|
rs1760930568
|
|
|
NM_006772.3(SYNGAP1):c.1205T>G (p.Leu402Arg)
|
rs1554121265
|
|
|
NM_006772.3(SYNGAP1):c.1249_1252dup (p.Lys418delinsIleTer)
|
rs1760904978
|
|
|
NM_006772.3(SYNGAP1):c.1255G>T (p.Glu419Ter)
|
rs2151170014
|
|
|
NM_006772.3(SYNGAP1):c.1269T>A (p.Tyr423Ter)
|
rs1561785045
|
|
|
NM_006772.3(SYNGAP1):c.1292T>C (p.Leu431Pro)
|
rs1581987885
|
|
|
NM_006772.3(SYNGAP1):c.1312del (p.Ala438fs)
|
rs2151170227
|
|
|
NM_006772.3(SYNGAP1):c.1352T>C (p.Leu451Pro)
|
|
|
|
NM_006772.3(SYNGAP1):c.1393_1395dup (p.Leu465_Ser466insLeu)
|
|
|
|
NM_006772.3(SYNGAP1):c.1394T>C (p.Leu465Pro)
|
rs2151170996
|
|
|
NM_006772.3(SYNGAP1):c.1403T>A (p.Met468Lys)
|
rs763770519
|
|
|
NM_006772.3(SYNGAP1):c.1481T>G (p.Ile494Arg)
|
rs2151171287
|
|
|
NM_006772.3(SYNGAP1):c.1513T>C (p.Tyr505His)
|
|
|
|
NM_006772.3(SYNGAP1):c.1517T>C (p.Leu506Pro)
|
rs1760918521
|
|
|
NM_006772.3(SYNGAP1):c.1532-1G>A
|
rs1760930644
|
|
|
NM_006772.3(SYNGAP1):c.1532-1G>C
|
rs1760930644
|
|
|
NM_006772.3(SYNGAP1):c.1556A>C (p.Glu519Ala)
|
rs1760931697
|
|
|
NM_006772.3(SYNGAP1):c.1583delinsTG (p.Pro528fs)
|
rs2151172438
|
|
|
NM_006772.3(SYNGAP1):c.1631G>C (p.Arg544Pro)
|
rs1480178032
|
|
|
NM_006772.3(SYNGAP1):c.1652T>C (p.Leu551Pro)
|
rs1554121453
|
|
|
NM_006772.3(SYNGAP1):c.1676+1G>A
|
rs2151172748
|
|
|
NM_006772.3(SYNGAP1):c.1677-2A>G
|
rs2151180361
|
|
|
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu)
|
rs397514670
|
|
|
NM_006772.3(SYNGAP1):c.1706T>C (p.Phe569Ser)
|
|
|
|
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)
|
rs1064795331
|
|
|
NM_006772.3(SYNGAP1):c.1802C>A (p.Ala601Glu)
|
rs1761012352
|
|
|
NM_006772.3(SYNGAP1):c.189+1G>A
|
|
|
|
NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro)
|
rs1761021165
|
|
|
NM_006772.3(SYNGAP1):c.1913+1G>A
|
rs2151181124
|
|
|
NM_006772.3(SYNGAP1):c.1913+1G>C
|
|
|
|
NM_006772.3(SYNGAP1):c.1913+2_1913+5del
|
rs2151181120
|
|
|
NM_006772.3(SYNGAP1):c.1914-1G>A
|
|
|
|
NM_006772.3(SYNGAP1):c.1925A>C (p.Lys642Thr)
|
rs1485749468
|
|
|
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)
|
rs1060503383
|
|
|
NM_006772.3(SYNGAP1):c.2071A>C (p.Thr691Pro)
|
rs1581992998
|
|
|
NM_006772.3(SYNGAP1):c.2087T>C (p.Leu696Pro)
|
rs2151182679
|
|
|
NM_006772.3(SYNGAP1):c.2104_2115+14del
|
rs1064792984
|
|
|
NM_006772.3(SYNGAP1):c.2115G>A (p.Lys705=)
|
rs1057518786
|
|
|
NM_006772.3(SYNGAP1):c.2143C>T (p.Pro715Ser)
|
|
|
|
NM_006772.3(SYNGAP1):c.2250dup (p.Pro751fs)
|
rs1761049027
|
|
|
NM_006772.3(SYNGAP1):c.2294+1G>A
|
rs1554121970
|
|
|
NM_006772.3(SYNGAP1):c.2294+1G>C
|
|
|
|
NM_006772.3(SYNGAP1):c.2337-1G>A
|
|
|
|
NM_006772.3(SYNGAP1):c.2621_2625dup (p.Ser876fs)
|
rs1761096151
|
|
|
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter)
|
rs1554122244
|
|
|
NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter)
|
rs1554122249
|
|
|
NM_006772.3(SYNGAP1):c.2852A>G (p.His951Arg)
|
rs1761103512
|
|
|
NM_006772.3(SYNGAP1):c.2982del (p.Lys994fs)
|
|
|
|
NM_006772.3(SYNGAP1):c.3025G>T (p.Glu1009Ter)
|
|
|
|
NM_006772.3(SYNGAP1):c.3138dup (p.Ser1047fs)
|
|
|
|
NM_006772.3(SYNGAP1):c.3151G>T (p.Gly1051Cys)
|
rs1761113561
|
|
|
NM_006772.3(SYNGAP1):c.3196C>T (p.Pro1066Ser)
|
rs2151190466
|
|
|
NM_006772.3(SYNGAP1):c.3200del (p.Pro1067fs)
|
rs1057518796
|
|
|
NM_006772.3(SYNGAP1):c.3238G>A (p.Ala1080Thr)
|
rs1200128322
|
|
|
NM_006772.3(SYNGAP1):c.3322_3323del (p.Ser1108fs)
|
rs1581997098
|
|
|
NM_006772.3(SYNGAP1):c.3379G>C (p.Gly1127Arg)
|
|
|
|
NM_006772.3(SYNGAP1):c.3406C>T (p.Gln1136Ter)
|
rs1554122400
|
|
|
NM_006772.3(SYNGAP1):c.3494C>T (p.Ser1165Leu)
|
rs875989808
|
|
|
NM_006772.3(SYNGAP1):c.34_35del (p.Ser12fs)
|
rs1554304254
|
|
|
NM_006772.3(SYNGAP1):c.3534C>A (p.Tyr1178Ter)
|
rs2151193128
|
|
|
NM_006772.3(SYNGAP1):c.3583-6G>A
|
rs869312674
|
|
|
NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe)
|
rs1761209473
|
|
|
NM_006772.3(SYNGAP1):c.3711T>A (p.Tyr1237Ter)
|
|
|
|
NM_006772.3(SYNGAP1):c.3722_3723del (p.Leu1241fs)
|
rs1554122735
|
|
|
NM_006772.3(SYNGAP1):c.3795-1G>C
|
rs1761241410
|
|
|
NM_006772.3(SYNGAP1):c.387G>A (p.Ser129=)
|
rs767126748
|
|
|
NM_006772.3(SYNGAP1):c.388-3C>G
|
rs1448169616
|
|
|
NM_006772.3(SYNGAP1):c.458C>A (p.Thr153Asn)
|
rs998489108
|
|
|
NM_006772.3(SYNGAP1):c.484C>T (p.Arg162Cys)
|
rs1554120589
|
|
|
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter)
|
rs1057518352
|
|
|
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln)
|
rs1057519546
|
|
|
NM_006772.3(SYNGAP1):c.629_632dup (p.Ser211fs)
|
|
|
|
NM_006772.3(SYNGAP1):c.662A>T (p.Glu221Val)
|
|
|
|
NM_006772.3(SYNGAP1):c.663+1G>T
|
rs1064797322
|
|
|
NM_006772.3(SYNGAP1):c.67+1G>T
|
|
|
|
NM_006772.3(SYNGAP1):c.692_693dup (p.Ala232fs)
|
|
|
|
NM_006772.3(SYNGAP1):c.703T>C (p.Ser235Pro)
|
rs2151161955
|
|
|
NM_006772.3(SYNGAP1):c.725G>A (p.Trp242Ter)
|
rs1554120974
|
|
|
NM_006772.3(SYNGAP1):c.743G>C (p.Arg248Pro)
|
rs1400108198
|
|
|
NM_006772.3(SYNGAP1):c.767A>G (p.Asn256Ser)
|
|
|
|
NM_006772.3(SYNGAP1):c.844T>C (p.Cys282Arg)
|
rs1581987022
|
|
|
NM_006772.3(SYNGAP1):c.847del (p.Glu283fs)
|
rs2151168593
|
|
|
NM_006772.3(SYNGAP1):c.859G>C (p.Asp287His)
|
rs2151168637
|
|
|
NM_006772.3(SYNGAP1):c.878G>C (p.Arg293Pro)
|
rs1561784553
|
|
|
NM_006772.3(SYNGAP1):c.881_886delinsTCACCG (p.Thr294_Ser296delinsIleThrAla)
|
|
|
|
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys)
|
rs1554121206
|
|
|
NM_006772.3(SYNGAP1):c.930G>C (p.Glu310Asp)
|
rs1760890843
|
|
|
NM_006772.3(SYNGAP1):c.968T>G (p.Leu323Arg)
|
rs1760891950
|
|
|
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe)
|
rs121908461
|
|
|
NM_006790.3(MYOT):c.145_149del (p.Glu49fs)
|
|
|
|
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe)
|
rs121908457
|
|
|
NM_006790.3(MYOT):c.634C>T (p.Gln212Ter)
|
|
|
|
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg)
|
rs1598832568
|
|
|
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)
|
rs727502823
|
|
|
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)
|
rs151344513
|
|
|
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)
|
rs151344514
|
|
|
NM_006796.3(AFG3L2):c.2012G>A (p.Gly671Glu)
|
rs151344518
|
|
|
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr)
|
rs797045221
|
|
|
NM_006796.3(AFG3L2):c.2067_2068del (p.Tyr689_Ser690delinsTer)
|
rs765987297
|
|
|
NM_006796.3(AFG3L2):c.2073_2096dup (p.Glu691_Asp698dup)
|
|
|
|
NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp)
|
rs1567948262
|
|
|
NM_006852.6(TLK2):c.1121+1G>A
|
rs2146617330
|
|
|
NM_006852.6(TLK2):c.1147C>T (p.Gln383Ter)
|
|
|
|
NM_006852.6(TLK2):c.1412A>G (p.His471Arg)
|
rs1567974030
|
|
|
NM_006852.6(TLK2):c.1480C>T (p.Arg494Trp)
|
|
|
|
NM_006852.6(TLK2):c.1487A>G (p.His496Arg)
|
rs1567995650
|
|
|
NM_006852.6(TLK2):c.1550+1G>A
|
rs2147105351
|
|
|
NM_006852.6(TLK2):c.1579G>A (p.Gly527Arg)
|
rs2147165095
|
|
|
NM_006852.6(TLK2):c.1586A>G (p.Asp529Gly)
|
rs2082811958
|
|
|
NM_006852.6(TLK2):c.1589T>C (p.Leu530Pro)
|
|
|
|
NM_006852.6(TLK2):c.1637G>A (p.Arg546Gln)
|
rs2147165727
|
|
|
NM_006852.6(TLK2):c.1783T>C (p.Ser595Pro)
|
|
|
|
NM_006852.6(TLK2):c.1819G>A (p.Asp607Asn)
|
rs1568006217
|
|
|
NM_006852.6(TLK2):c.1973C>G (p.Pro658Arg)
|
rs1568018905
|
|
|
NM_006852.6(TLK2):c.31C>T (p.Arg11Ter)
|
rs2144333874
|
|
|
NM_006852.6(TLK2):c.585C>A (p.Cys195Ter)
|
rs2146204977
|
|
|
NM_006852.6(TLK2):c.625C>T (p.Gln209Ter)
|
|
|
|
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp)
|
rs1555639254
|
|
|
NM_006852.6(TLK2):c.944G>T (p.Gly315Val)
|
|
|
|
NM_006852.6(TLK2):c.968+1G>A
|
rs1598620094
|
|
|
NM_006908.5(RAC1):c.129T>A (p.Asn43Lys)
|
|
|
|
NM_006908.5(RAC1):c.168G>C (p.Trp56Cys)
|
rs1783105049
|
|
|
NM_006908.5(RAC1):c.190T>C (p.Tyr64His)
|
|
|
|
NM_006908.5(RAC1):c.191A>G (p.Tyr64Cys)
|
rs2115201389
|
|
|
NM_006908.5(RAC1):c.198A>T (p.Arg66Ser)
|
rs1783105291
|
|
|
NM_006908.5(RAC1):c.212C>T (p.Ser71Phe)
|
rs2115201430
|
|
|
NM_006941.4(SOX10):c.-85+1G>A
|
|
|
|
NM_006941.4(SOX10):c.106_107del (p.Gly36fs)
|
|
|
|
NM_006941.4(SOX10):c.1086dup (p.Pro363fs)
|
|
|
|
NM_006941.4(SOX10):c.1089_1092del (p.Gln364fs)
|
|
|
|
NM_006941.4(SOX10):c.1090_1091insCGAGACCGCGGGGCCCC (p.Gln364fs)
|
|
|
|
NM_006941.4(SOX10):c.1091del (p.Gln364fs)
|
rs1555937398
|
|
|
NM_006941.4(SOX10):c.1095dup (p.Pro366fs)
|
rs1555937395
|
|
|
NM_006941.4(SOX10):c.1107del (p.His368_Tyr369insTer)
|
rs1555937390
|
|
|
NM_006941.4(SOX10):c.1127C>G (p.Ser376Ter)
|
rs483353058
|
|
|
NM_006941.4(SOX10):c.1162_1163insCC (p.Tyr388fs)
|
|
|
|
NM_006941.4(SOX10):c.1195del (p.Gln399fs)
|
|
|
|
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs)
|
rs1601878540
|
|
|
NM_006941.4(SOX10):c.1400A>T (p.Ter467Leu)
|
rs2145760379
|
|
|
NM_006941.4(SOX10):c.1400_*10del (p.Ter467Xaa)
|
rs397515368
|
|
|
NM_006941.4(SOX10):c.141del (p.Pro48fs)
|
rs1064796049
|
|
|
NM_006941.4(SOX10):c.215T>C (p.Ile72Thr)
|
|
|
|
NM_006941.4(SOX10):c.255G>A (p.Trp85Ter)
|
|
|
|
NM_006941.4(SOX10):c.255_274dup (p.Val92fs)
|
rs1555939476
|
|
|
NM_006941.4(SOX10):c.271_275del (p.Pro91fs)
|
rs483353057
|
|
|
NM_006941.4(SOX10):c.298_300delinsGG (p.Ser100fs)
|
rs1555939460
|
|
|
NM_006941.4(SOX10):c.301A>T (p.Lys101Ter)
|
rs1555939459
|
|
|
NM_006941.4(SOX10):c.316C>G (p.Arg106Gly)
|
rs1057518656
|
|
|
NM_006941.4(SOX10):c.322A>G (p.Met108Val)
|
|
|
|
NM_006941.4(SOX10):c.335T>C (p.Met112Thr)
|
rs1932463844
|
|
|
NM_006941.4(SOX10):c.335T>G (p.Met112Arg)
|
rs1932463844
|
|
|
NM_006941.4(SOX10):c.336G>T (p.Met112Ile)
|
rs2145777042
|
|
|
NM_006941.4(SOX10):c.341G>C (p.Trp114Ser)
|
|
|
|
NM_006941.4(SOX10):c.352G>C (p.Ala118Pro)
|
|
|
|
NM_006941.4(SOX10):c.356_357del (p.Arg119fs)
|
|
|
|
NM_006941.4(SOX10):c.364C>G (p.Leu122Val)
|
rs1555939426
|
|
|
NM_006941.4(SOX10):c.378C>A (p.Tyr126Ter)
|
rs2145776981
|
|
|
NM_006941.4(SOX10):c.380dup (p.His128fs)
|
rs1555939421
|
|
|
NM_006941.4(SOX10):c.386T>C (p.Leu129Pro)
|
rs1932462410
|
|
|
NM_006941.4(SOX10):c.392A>C (p.Asn131Thr)
|
|
|
|
NM_006941.4(SOX10):c.392A>G (p.Asn131Ser)
|
|
|
|
NM_006941.4(SOX10):c.400C>T (p.Leu134Phe)
|
|
|
|
NM_006941.4(SOX10):c.403A>C (p.Ser135Arg)
|
rs1555939415
|
|
|
NM_006941.4(SOX10):c.403A>G (p.Ser135Gly)
|
rs1555939415
|
|
|
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn)
|
rs74315515
|
|
|
NM_006941.4(SOX10):c.412C>G (p.Leu138Val)
|
|
|
|
NM_006941.4(SOX10):c.413T>C (p.Leu138Pro)
|
|
|
|
NM_006941.4(SOX10):c.415G>C (p.Gly139Arg)
|
|
|
|
NM_006941.4(SOX10):c.422T>C (p.Leu141Pro)
|
rs2145776911
|
|
|
NM_006941.4(SOX10):c.426G>C (p.Trp142Cys)
|
rs1555939403
|
|
|
NM_006941.4(SOX10):c.428+2T>C
|
rs1601886662
|
|
|
NM_006941.4(SOX10):c.430del (p.Leu144fs)
|
rs1555938422
|
|
|
NM_006941.4(SOX10):c.44_62del (p.Val15fs)
|
rs1555939564
|
|
|
NM_006941.4(SOX10):c.452G>C (p.Arg151Pro)
|
rs1373797370
|
|
|
NM_006941.4(SOX10):c.469G>A (p.Ala157Thr)
|
|
|
|
NM_006941.4(SOX10):c.481C>T (p.Arg161Cys)
|
rs2145768544
|
|
|
NM_006941.4(SOX10):c.512A>C (p.Tyr171Ser)
|
|
|
|
NM_006941.4(SOX10):c.586G>T (p.Glu196Ter)
|
rs763210407
|
|
|
NM_006941.4(SOX10):c.610C>T (p.Gln204Ter)
|
rs2145768136
|
|
|
NM_006941.4(SOX10):c.698-3C>G
|
|
|
|
NM_006941.4(SOX10):c.850G>T (p.Glu284Ter)
|
rs2145761680
|
|
|
NM_006941.4(SOX10):c.934dup (p.Ser312fs)
|
rs1555937463
|
|
|
NM_006941.4(SOX10):c.953dup (p.Tyr318Ter)
|
|
|
|
NM_006941.4(SOX10):c.96_160del (p.Pro33fs)
|
|
|
|
NM_006941.4(SOX10):c.979del (p.Ala327fs)
|
rs1932141204
|
|
|
NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro)
|
rs541484241
|
|
|
NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del)
|
rs1590955348
|
|
|
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)
|
rs1554986345
|
|
|
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp)
|
rs1941669517
|
|
|
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)
|
rs1554986337
|
|
|
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro)
|
rs1554984881
|
|
|
NM_006946.4(SPTBN2):c.1896_1904del (p.Arg634_Arg636del)
|
|
|
|
NM_006946.4(SPTBN2):c.193A>C (p.Lys65Gln)
|
rs2135526204
|
|
|
NM_006946.4(SPTBN2):c.4358A>T (p.Asp1453Val)
|
rs1940772032
|
|
|
NM_006946.4(SPTBN2):c.470T>C (p.Ile157Thr)
|
rs875989881
|
|
|
NM_006946.4(SPTBN2):c.5974C>T (p.Gln1992Ter)
|
rs2135319250
|
|
|
NM_006946.4(SPTBN2):c.6230C>T (p.Ala2077Val)
|
|
|
|
NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile)
|
rs1941829953
|
|
|
NM_007078.3(LDB3):c.245+1G>A
|
|
|
|
NM_007078.3(LDB3):c.321+1G>A
|
|
|
|
NM_007078.3(LDB3):c.690-2A>G
|
rs1060501315
|
|
|
NM_007078.3(LDB3):c.93+1G>T
|
rs727505066
|
|
|
NM_007118.4(TRIO):c.1665_1666delinsTT (p.Trp555_Gln556delinsCysTer)
|
rs2152305937
|
|
|
NM_007118.4(TRIO):c.1863C>G (p.Tyr621Ter)
|
rs140745100
|
|
|
NM_007118.4(TRIO):c.1993C>T (p.Gln665Ter)
|
|
|
|
NM_007118.4(TRIO):c.2296del (p.Glu766fs)
|
|
|
|
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter)
|
rs1554062562
|
|
|
NM_007118.4(TRIO):c.2570dup (p.Asn857fs)
|
rs2152340697
|
|
|
NM_007118.4(TRIO):c.2638_2641dup (p.Leu881fs)
|
|
|
|
NM_007118.4(TRIO):c.2754+2T>C
|
|
|
|
NM_007118.4(TRIO):c.298C>T (p.Arg100Ter)
|
|
|
|
NM_007118.4(TRIO):c.3224C>T (p.Thr1075Ile)
|
rs1745368018
|
|
|
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
|
|
|
|
NM_007118.4(TRIO):c.3570+3G>A
|
rs2152354197
|
|
|
NM_007118.4(TRIO):c.3571C>T (p.Gln1191Ter)
|
|
|
|
NM_007118.4(TRIO):c.3657dup (p.Cys1220fs)
|
rs1554068529
|
|
|
NM_007118.4(TRIO):c.3766-2A>C
|
|
|
|
NM_007118.4(TRIO):c.4085A>G (p.Tyr1362Cys)
|
|
|
|
NM_007118.4(TRIO):c.4103A>G (p.Asp1368Gly)
|
rs2152363791
|
|
|
NM_007118.4(TRIO):c.4276G>T (p.Val1426Phe)
|
rs1579522661
|
|
|
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln)
|
rs879255626
|
|
|
NM_007118.4(TRIO):c.4300C>T (p.Leu1434Phe)
|
rs1747352673
|
|
|
NM_007118.4(TRIO):c.4309A>G (p.Lys1437Glu)
|
|
|
|
NM_007118.4(TRIO):c.4343G>A (p.Gly1448Glu)
|
|
|
|
NM_007118.4(TRIO):c.4382C>G (p.Pro1461Arg)
|
rs1747667518
|
|
|
NM_007118.4(TRIO):c.4387C>T (p.Arg1463Ter)
|
rs748670822
|
|
|
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser)
|
rs1747669042
|
|
|
NM_007118.4(TRIO):c.4495del (p.Thr1499fs)
|
rs2152373759
|
|
|
NM_007118.4(TRIO):c.4649dup (p.Asp1551fs)
|
|
|
|
NM_007118.4(TRIO):c.4716G>A (p.Lys1572=)
|
|
|
|
NM_007118.4(TRIO):c.4860-2A>G
|
rs1579564431
|
|
|
NM_007118.4(TRIO):c.5345_5355dup (p.Ser1786fs)
|
|
|
|
NM_007118.4(TRIO):c.5482G>T (p.Glu1828Ter)
|
|
|
|
NM_007118.4(TRIO):c.5497-1G>C
|
|
|
|
NM_007118.4(TRIO):c.5619G>A (p.Met1873Ile)
|
|
|
|
NM_007118.4(TRIO):c.5680T>A (p.Leu1894Ile)
|
rs2126522675
|
|
|
NM_007118.4(TRIO):c.5689del (p.Arg1897fs)
|
|
|
|
NM_007118.4(TRIO):c.5763+1G>T
|
|
|
|
NM_007118.4(TRIO):c.5822_5823insAG (p.Phe1942fs)
|
|
|
|
NM_007118.4(TRIO):c.5912+3A>G
|
|
|
|
NM_007118.4(TRIO):c.6083_6084insT (p.Phe2029fs)
|
|
|
|
NM_007118.4(TRIO):c.6153+1G>A
|
rs1755124330
|
|
|
NM_007118.4(TRIO):c.651_652del (p.Arg217fs)
|
rs1736840999
|
|
|
NM_007118.4(TRIO):c.6554_6557del (p.Glu2185fs)
|
rs2126611738
|
|
|
NM_007118.4(TRIO):c.6560_6561del (p.Arg2187fs)
|
|
|
|
NM_007118.4(TRIO):c.7003del (p.Arg2335fs)
|
|
|
|
NM_007118.4(TRIO):c.704del (p.Glu235fs)
|
rs2152284932
|
|
|
NM_007118.4(TRIO):c.7050del (p.Val2351fs)
|
|
|
|
NM_007118.4(TRIO):c.7317_7345del (p.Ser2440fs)
|
|
|
|
NM_007118.4(TRIO):c.7566_7573dup (p.Arg2525fs)
|
|
|
|
NM_007118.4(TRIO):c.757dup (p.Ala253fs)
|
|
|
|
NM_007118.4(TRIO):c.850C>T (p.Gln284Ter)
|
|
|
|
NM_007126.5(VCP):c.409C>T (p.Pro137Ser)
|
rs866101707
|
|
|
NM_007194.4(CHEK2):c.1006del (p.Gln336fs)
|
|
|
|
NM_007194.4(CHEK2):c.1008+2T>G
|
rs1555915295
|
|
|
NM_007194.4(CHEK2):c.1009-118_1009-87delinsC
|
|
|
|
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter)
|
rs1231012263
|
|
|
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr)
|
rs864622537
|
|
|
NM_007194.4(CHEK2):c.1096-1G>C
|
rs1060502716
|
|
|
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys)
|
rs200928781
|
|
|
NM_007194.4(CHEK2):c.1189del (p.Val397fs)
|
|
|
|
NM_007194.4(CHEK2):c.1238_1246delinsAGGAG (p.Leu413_Ile416delinsTer)
|
rs1555913645
|
|
|
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer)
|
rs765664259
|
|
|
NM_007194.4(CHEK2):c.1259+1G>A
|
rs121908707
|
|
|
NM_007194.4(CHEK2):c.1455dup (p.Leu486fs)
|
rs1601715865
|
|
|
NM_007194.4(CHEK2):c.1461+1del
|
|
|
|
NM_007194.4(CHEK2):c.1461+5G>T
|
rs769841229
|
|
|
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn)
|
rs767043399
|
|
|
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs)
|
rs757016287
|
|
|
NM_007194.4(CHEK2):c.1518del (p.Ala507fs)
|
|
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
|
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)
|
rs1349961118
|
|
|
NM_007194.4(CHEK2):c.31dup (p.Gln11fs)
|
rs1555932913
|
|
|
NM_007194.4(CHEK2):c.320-1G>T
|
rs864622613
|
|
|
NM_007194.4(CHEK2):c.346G>A (p.Gly116Arg)
|
|
|
|
NM_007194.4(CHEK2):c.415T>C (p.Tyr139His)
|
rs730881703
|
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
|
NM_007194.4(CHEK2):c.593-2A>C
|
|
|
|
NM_007194.4(CHEK2):c.683+1G>A
|
rs786203650
|
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
|
NM_007194.4(CHEK2):c.688G>C (p.Ala230Pro)
|
rs748636216
|
|
|
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)
|
rs786201896
|
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
|
NM_007194.4(CHEK2):c.844C>G (p.His282Asp)
|
|
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
|
NM_007194.4(CHEK2):c.860del (p.Lys287fs)
|
rs886039731
|
|
|
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)
|
rs876659519
|
|
|
NM_007194.4(CHEK2):c.89_90insAG (p.Ser31fs)
|
rs2146152668
|
|
|
NM_007194.4(CHEK2):c.908+1G>C
|
rs587781699
|
|
|
NM_007194.4(CHEK2):c.908+1G>T
|
rs587781699
|
|
|
NM_007194.4(CHEK2):c.908+2T>C
|
rs1601752066
|
|
|
NM_007214.5(SEC63):c.1124A>C (p.Gln375Pro)
|
rs1787041288
|
|
|
NM_007214.5(SEC63):c.1124A>G (p.Gln375Arg)
|
rs1787041288
|
|
|
NM_007214.5(SEC63):c.1188_1191dup (p.Val398fs)
|
rs1787039042
|
|
|
NM_007214.5(SEC63):c.125_126del
|
|
|
|
NM_007214.5(SEC63):c.1326dup (p.Pro443fs)
|
|
|
|
NM_007214.5(SEC63):c.1440+1G>A
|
|
|
|
NM_007214.5(SEC63):c.1500+1G>A
|
|
|
|
NM_007214.5(SEC63):c.1586dup (p.Lys530fs)
|
rs758487924
|
|
|
NM_007214.5(SEC63):c.1605dup (p.Pro536fs)
|
rs752868449
|
|
|
NM_007214.5(SEC63):c.1629G>C (p.Gln543His)
|
rs2114426916
|
|
|
NM_007214.5(SEC63):c.1786_1787del (p.Asp596fs)
|
|
|
|
NM_007214.5(SEC63):c.1864C>T (p.Arg622Ter)
|
rs2114403750
|
|
|
NM_007214.5(SEC63):c.1895C>A (p.Ser632Ter)
|
rs768615942
|
|
|
NM_007214.5(SEC63):c.1936-2A>T
|
|
|
|
NM_007214.5(SEC63):c.1942C>T (p.Gln648Ter)
|
rs773300876
|
|
|
NM_007214.5(SEC63):c.292dup (p.Arg98fs)
|
|
|
|
NM_007214.5(SEC63):c.304G>T (p.Glu102Ter)
|
|
|
|
NM_007214.5(SEC63):c.359T>C (p.Ile120Thr)
|
rs2114476499
|
|
|
NM_007214.5(SEC63):c.502G>C (p.Asp168His)
|
rs2114461992
|
|
|
NM_007214.5(SEC63):c.506_514+3del
|
|
|
|
NM_007214.5(SEC63):c.599_600del (p.Phe200fs)
|
|
|
|
NM_007214.5(SEC63):c.622G>C (p.Val208Leu)
|
rs2114458613
|
|
|
NM_007214.5(SEC63):c.625-2A>G
|
|
|
|
NM_007214.5(SEC63):c.646A>G (p.Ile216Val)
|
rs2114454091
|
|
|
NM_007214.5(SEC63):c.962-2A>G
|
|
|
|
NM_007215.4(POLG2):c.1110+2T>A
|
|
|
|
NM_007215.4(POLG2):c.416del (p.Leu139fs)
|
|
|
|
NM_007289.4(MME):c.1095-2A>C
|
rs2108312675
|
|
|
NM_007289.4(MME):c.1715C>A (p.Ser572Ter)
|
|
|
|
NM_007294.3(BRCA1):c.135-?_441+?dup
|
|
|
|
NM_007294.3(BRCA1):c.4358-?_5074+?del
|
|
|
|
NM_007294.3(BRCA1):c.442-?_547+?(2)
|
|
|
|
NM_007294.3(BRCA1):c.5075-?_5277+?dup203
|
|
|
|
NM_007294.3(BRCA1):c.5278-?_5406+?dup129
|
|
|
|
NM_007294.3(BRCA1):c.5543_5545delAGGins43 (p.?)
|
|
|
|
NM_007294.3(BRCA1):c.81-?_134+?del
|
|
|
|
NM_007294.3(BRCA1):c.[-1A>G;3G>A]
|
|
|
|
NM_007294.4(BRCA1):c.1015A>T (p.Lys339Ter)
|
rs55842957
|
|
|
NM_007294.4(BRCA1):c.1044T>A (p.Cys348Ter)
|
rs886037985
|
|
|
NM_007294.4(BRCA1):c.104T>C (p.Val35Ala)
|
rs1235706456
|
|
|
NM_007294.4(BRCA1):c.1091_1092del (p.Pro364fs)
|
rs1555592526
|
|
|
NM_007294.4(BRCA1):c.109A>G (p.Thr37Ala)
|
rs2055253295
|
|
|
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)
|
rs80356880
|
|
|
NM_007294.4(BRCA1):c.1119_1120insCTGA (p.Thr374fs)
|
rs2154475092
|
|
|
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly)
|
rs80357164
|
|
|
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe)
|
rs80357498
|
|
|
NM_007294.4(BRCA1):c.1194dup (p.His399fs)
|
rs1555592264
|
|
|
NM_007294.4(BRCA1):c.121C>G (p.His41Asp)
|
rs1060502353
|
|
|
NM_007294.4(BRCA1):c.121C>T (p.His41Tyr)
|
rs1060502353
|
|
|
NM_007294.4(BRCA1):c.121dup (p.His41fs)
|
rs1555599226
|
|
|
NM_007294.4(BRCA1):c.122A>T (p.His41Leu)
|
rs80357276
|
|
|
NM_007294.4(BRCA1):c.122_134delinsT (p.His41_Lys45delinsLeu)
|
rs1555599205
|
|
|
NM_007294.4(BRCA1):c.1292del (p.Leu431fs)
|
rs80357528
|
|
|
NM_007294.4(BRCA1):c.1293_1295delinsGA (p.Leu432fs)
|
rs397508852
|
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
|
NM_007294.4(BRCA1):c.131_132del (p.Phe43_Cys44insTer)
|
rs1597911705
|
|
|
NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp)
|
rs876658362
|
|
|
NM_007294.4(BRCA1):c.134+1G>C
|
rs80358043
|
|
|
NM_007294.4(BRCA1):c.134+2T>G
|
rs80358131
|
|
|
NM_007294.4(BRCA1):c.134+3A>T
|
rs80358064
|
|
|
NM_007294.4(BRCA1):c.134+5G>A
|
rs80358038
|
|
|
NM_007294.4(BRCA1):c.134+5G>C
|
rs80358038
|
|
|
NM_007294.4(BRCA1):c.134+5G>T
|
rs80358038
|
|
|
NM_007294.4(BRCA1):c.1356del (p.Glu453fs)
|
rs80357939
|
|
|
NM_007294.4(BRCA1):c.1363_1364insT (p.Asn455fs)
|
rs1555591850
|
|
|
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs)
|
rs80357770
|
|
|
NM_007294.4(BRCA1):c.139T>G (p.Cys47Gly)
|
rs80357370
|
|
|
NM_007294.4(BRCA1):c.139dup (p.Cys47fs)
|
rs80357734
|
|
|
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr)
|
rs80357150
|
|
|
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)
|
rs80357150
|
|
|
NM_007294.4(BRCA1):c.142A>G (p.Met48Val)
|
rs879255477
|
|
|
NM_007294.4(BRCA1):c.1468_1513dup (p.Lys505delinsThrThrAspAsnThrArgAlaSerProHisLysTer)
|
rs2154441580
|
|
|
NM_007294.4(BRCA1):c.1485del (p.Glu495fs)
|
rs1555591703
|
|
|
NM_007294.4(BRCA1):c.1505_1509del (p.Leu502fs)
|
rs876659139
|
|
|
NM_007294.4(BRCA1):c.1604del (p.Gly535fs)
|
rs2154434302
|
|
|
NM_007294.4(BRCA1):c.166_169del (p.Lys56fs)
|
rs2154555258
|
|
|
NM_007294.4(BRCA1):c.1670_1673del (p.Thr557fs)
|
rs1555591390
|
|
|
NM_007294.4(BRCA1):c.1670_1674del (p.Thr557fs)
|
rs2053902770
|
|
|
NM_007294.4(BRCA1):c.1687del (p.Gln563fs)
|
|
|
|
NM_007294.4(BRCA1):c.1728_1731del (p.Lys576fs)
|
rs2154427544
|
|
|
NM_007294.4(BRCA1):c.1745del (p.Thr582fs)
|
rs1597874447
|
|
|
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg)
|
rs28897672
|
|
|
NM_007294.4(BRCA1):c.1825_1829del (p.Asn609fs)
|
rs1555591170
|
|
|
NM_007294.4(BRCA1):c.182_183del (p.Cys61fs)
|
rs397508912
|
|
|
NM_007294.4(BRCA1):c.190T>A (p.Cys64Ser)
|
rs80357064
|
|
|
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
|
rs55851803
|
|
|
NM_007294.4(BRCA1):c.1923dup (p.Asp642Ter)
|
rs878854935
|
|
|
NM_007294.4(BRCA1):c.1929_1930delinsA (p.Ser643fs)
|
rs886039982
|
|
|
NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp)
|
rs587781632
|
|
|
NM_007294.4(BRCA1):c.1967_1985del (p.Asn656fs)
|
|
|
|
NM_007294.4(BRCA1):c.1978del (p.Val660fs)
|
rs886039988
|
|
|
NM_007294.4(BRCA1):c.1A>G (p.Met1Val)
|
rs80357287
|
|
|
NM_007294.4(BRCA1):c.2028_2029del (p.Gly677fs)
|
rs397508931
|
|
|
NM_007294.4(BRCA1):c.203T>G (p.Ile68Arg)
|
rs80357116
|
|
|
NM_007294.4(BRCA1):c.2043_2044insTT (p.Asn682fs)
|
|
|
|
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter)
|
rs863224510
|
|
|
NM_007294.4(BRCA1):c.2061_2064del (p.Thr688fs)
|
rs1597872420
|
|
|
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)
|
rs80357298
|
|
|
NM_007294.4(BRCA1):c.212+3A>T
|
rs80358083
|
|
|
NM_007294.4(BRCA1):c.212G>T (p.Arg71Met)
|
rs80356913
|
|
|
NM_007294.4(BRCA1):c.213-15A>G
|
rs886040903
|
|
|
NM_007294.4(BRCA1):c.213-5T>A
|
rs886038196
|
|
|
NM_007294.4(BRCA1):c.2131A>T (p.Lys711Ter)
|
|
|
|
NM_007294.4(BRCA1):c.2133del (p.Lys711fs)
|
|
|
|
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs)
|
rs273898681
|
|
|
NM_007294.4(BRCA1):c.2235dup (p.Asp746fs)
|
rs2053797991
|
|
|
NM_007294.4(BRCA1):c.2263del (p.Glu755fs)
|
rs80357960
|
|
|
NM_007294.4(BRCA1):c.2295del (p.Ser766fs)
|
rs1567796243
|
|
|
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs)
|
rs431825390
|
|
|
NM_007294.4(BRCA1):c.2346del (p.Ser782fs)
|
rs2053777106
|
|
|
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)
|
rs886040027
|
|
|
NM_007294.4(BRCA1):c.2351C>A (p.Ser784Ter)
|
rs55914168
|
|
|
NM_007294.4(BRCA1):c.2405dup (p.Ser803fs)
|
|
|
|
NM_007294.4(BRCA1):c.2429dup (p.Asn810fs)
|
rs397508967
|
|
|
NM_007294.4(BRCA1):c.2569_2570del (p.Leu857fs)
|
|
|
|
NM_007294.4(BRCA1):c.2620_2621del (p.Asn874fs)
|
rs587781423
|
|
|
NM_007294.4(BRCA1):c.2624del (p.Pro875fs)
|
rs2154368003
|
|
|
NM_007294.4(BRCA1):c.2626G>T (p.Gly876Ter)
|
|
|
|
NM_007294.4(BRCA1):c.2630del (p.Asn877fs)
|
rs886038002
|
|
|
NM_007294.4(BRCA1):c.2632_2653del (p.Ala878fs)
|
|
|
|
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)
|
rs80357596
|
|
|
NM_007294.4(BRCA1):c.2693_2694dup (p.Val899fs)
|
rs80357549
|
|
|
NM_007294.4(BRCA1):c.2728del (p.Gln910fs)
|
rs397509005
|
|
|
NM_007294.4(BRCA1):c.2748del (p.Asn916fs)
|
rs398122667
|
|
|
NM_007294.4(BRCA1):c.2764_2767del (p.Thr922fs)
|
rs80357822
|
|
|
NM_007294.4(BRCA1):c.2806_2807del (p.Lys935_Asp936insTer)
|
rs886038004
|
|
|
NM_007294.4(BRCA1):c.2817del (p.Asp940fs)
|
|
|
|
NM_007294.4(BRCA1):c.2844_2845del (p.Gly949fs)
|
|
|
|
NM_007294.4(BRCA1):c.2861dup (p.Ser955fs)
|
rs886040079
|
|
|
NM_007294.4(BRCA1):c.286G>A (p.Asp96Asn)
|
rs80357110
|
|
|
NM_007294.4(BRCA1):c.286G>C (p.Asp96His)
|
rs80357110
|
|
|
NM_007294.4(BRCA1):c.287A>C (p.Asp96Ala)
|
rs864622444
|
|
|
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)
|
rs864622444
|
|
|
NM_007294.4(BRCA1):c.287A>T (p.Asp96Val)
|
rs864622444
|
|
|
NM_007294.4(BRCA1):c.288_292delinsAACCTGT (p.Asp96fs)
|
rs483353091
|
|
|
NM_007294.4(BRCA1):c.2912_2913del (p.His971fs)
|
rs878854940
|
|
|
NM_007294.4(BRCA1):c.2915del (p.Gly972fs)
|
rs80357573
|
|
|
NM_007294.4(BRCA1):c.2930del (p.Pro977fs)
|
|
|
|
NM_007294.4(BRCA1):c.2959A>T (p.Lys987Ter)
|
rs878854941
|
|
|
NM_007294.4(BRCA1):c.2960_2964del (p.Lys987fs)
|
rs1555588625
|
|
|
NM_007294.4(BRCA1):c.2990_3971dup (p.Met1324delinsIleSerAlaArgGlyLysLeuTer)
|
rs2053492284
|
|
|
NM_007294.4(BRCA1):c.2T>C (p.Met1Thr)
|
rs80357111
|
|
|
NM_007294.4(BRCA1):c.3001G>T (p.Glu1001Ter)
|
rs886038007
|
|
|
NM_007294.4(BRCA1):c.301+1G>A
|
rs587782173
|
|
|
NM_007294.4(BRCA1):c.301+1G>C
|
rs587782173
|
|
|
NM_007294.4(BRCA1):c.301+3A>C
|
|
|
|
NM_007294.4(BRCA1):c.302-3C>G
|
rs80358051
|
|
|
NM_007294.4(BRCA1):c.3138_3141del (p.Gly1048fs)
|
rs1064794177
|
|
|
NM_007294.4(BRCA1):c.315T>G (p.Tyr105Ter)
|
rs2054639807
|
|
|
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)
|
rs80357635
|
|
|
NM_007294.4(BRCA1):c.3253_3254insAA (p.Arg1085fs)
|
|
|
|
NM_007294.4(BRCA1):c.3255_3256del (p.Arg1085fs)
|
rs2053618983
|
|
|
NM_007294.4(BRCA1):c.3273dup (p.Glu1092Ter)
|
|
|
|
NM_007294.4(BRCA1):c.3285del (p.Lys1095fs)
|
rs397509051
|
|
|
NM_007294.4(BRCA1):c.3289dup (p.Ser1097fs)
|
rs80357686
|
|
|
NM_007294.4(BRCA1):c.3301dup (p.Ser1101fs)
|
|
|
|
NM_007294.4(BRCA1):c.3343G>T (p.Glu1115Ter)
|
|
|
|
NM_007294.4(BRCA1):c.3351dup (p.Gln1118fs)
|
rs80357785
|
|
|
NM_007294.4(BRCA1):c.3359_3360insG (p.Val1120_Asn1121insTer)
|
rs2154323689
|
|
|
NM_007294.4(BRCA1):c.346del (p.Glu116fs)
|
rs762635795
|
|
|
NM_007294.4(BRCA1):c.3475dup (p.Ile1159fs)
|
rs1555587638
|
|
|
NM_007294.4(BRCA1):c.3569del (p.Pro1190fs)
|
rs1555587497
|
|
|
NM_007294.4(BRCA1):c.3629dup (p.Ser1211fs)
|
rs886040154
|
|
|
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)
|
rs80356923
|
|
|
NM_007294.4(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer)
|
rs797044631
|
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
|
NM_007294.4(BRCA1):c.3761_3764del (p.Lys1254fs)
|
rs2053528623
|
|
|
NM_007294.4(BRCA1):c.379del (p.Ser127fs)
|
rs1555596373
|
|
|
NM_007294.4(BRCA1):c.3837del (p.Ser1280fs)
|
|
|
|
NM_007294.4(BRCA1):c.3838del (p.Ser1280fs)
|
|
|
|
NM_007294.4(BRCA1):c.3853del (p.Ser1286fs)
|
rs397507222
|
|
|
NM_007294.4(BRCA1):c.3859del (p.Glu1287fs)
|
|
|
|
NM_007294.4(BRCA1):c.3865del (p.Thr1289fs)
|
rs2053509532
|
|
|
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter)
|
rs80357038
|
|
|
NM_007294.4(BRCA1):c.38_39delinsGGG (p.Asn13fs)
|
rs1567823382
|
|
|
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs)
|
rs80357678
|
|
|
NM_007294.4(BRCA1):c.3964A>T (p.Lys1322Ter)
|
rs80357343
|
|
|
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile)
|
rs80357475
|
|
|
NM_007294.4(BRCA1):c.4008dup (p.Asp1337Ter)
|
rs2053486046
|
|
|
NM_007294.4(BRCA1):c.4012A>T (p.Lys1338Ter)
|
|
|
|
NM_007294.4(BRCA1):c.403A>T (p.Lys135Ter)
|
rs879255485
|
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
|
NM_007294.4(BRCA1):c.4096+3A>G
|
rs80358015
|
|
|
NM_007294.4(BRCA1):c.4097-20_4134del
|
rs2053440925
|
|
|
NM_007294.4(BRCA1):c.4106_4110delinsATC (p.Ala1369fs)
|
|
|
|
NM_007294.4(BRCA1):c.4116_4117insTT (p.Glu1373fs)
|
rs398122682
|
|
|
NM_007294.4(BRCA1):c.412_441+58del
|
|
|
|
NM_007294.4(BRCA1):c.4146C>A (p.Cys1382Ter)
|
rs1057517574
|
|
|
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)
|
rs80357572
|
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
|
NM_007294.4(BRCA1):c.4185+1G>C
|
rs80358076
|
|
|
NM_007294.4(BRCA1):c.4185+1G>T
|
rs80358076
|
|
|
NM_007294.4(BRCA1):c.4185+2_4185+21del
|
rs2154249606
|
|
|
NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His)
|
rs80356857
|
|
|
NM_007294.4(BRCA1):c.4185_4185+1del
|
|
|
|
NM_007294.4(BRCA1):c.4192del (p.Asp1398fs)
|
|
|
|
NM_007294.4(BRCA1):c.4211del (p.Leu1404fs)
|
rs1555584251
|
|
|
NM_007294.4(BRCA1):c.4224G>C (p.Gln1408His)
|
rs1597848407
|
|
|
NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr)
|
rs273900729
|
|
|
NM_007294.4(BRCA1):c.4243G>T (p.Glu1415Ter)
|
rs1057519558
|
|
|
NM_007294.4(BRCA1):c.4285dup (p.Tyr1429fs)
|
rs1555584118
|
|
|
NM_007294.4(BRCA1):c.4321del (p.Asp1441fs)
|
rs80357748
|
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
|
NM_007294.4(BRCA1):c.4356del (p.Ala1453fs)
|
rs1567782959
|
|
|
NM_007294.4(BRCA1):c.4356dup (p.Ala1453fs)
|
rs1567782959
|
|
|
NM_007294.4(BRCA1):c.4358-2A>G
|
rs1555582723
|
|
|
NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs)
|
rs786204267
|
|
|
NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs)
|
rs397509170
|
|
|
NM_007294.4(BRCA1):c.4399del (p.Gln1467fs)
|
|
|
|
NM_007294.4(BRCA1):c.441+1G>C
|
|
|
|
NM_007294.4(BRCA1):c.442-22_442-13del
|
rs879254224
|
|
|
NM_007294.4(BRCA1):c.442-7T>A
|
rs886040909
|
|
|
NM_007294.4(BRCA1):c.442C>T (p.Gln148Ter)
|
rs876659614
|
|
|
NM_007294.4(BRCA1):c.4447_4450dup (p.Ser1484Ter)
|
rs2154062615
|
|
|
NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter)
|
rs138608489
|
|
|
NM_007294.4(BRCA1):c.4484+1G>A
|
rs80358063
|
|
|
NM_007294.4(BRCA1):c.4484+1del
|
rs397509181
|
|
|
NM_007294.4(BRCA1):c.4484+5G>A
|
rs886040910
|
|
|
NM_007294.4(BRCA1):c.4484+5G>C
|
rs886040910
|
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
|
NM_007294.4(BRCA1):c.4485-2A>C
|
rs80358054
|
|
|
NM_007294.4(BRCA1):c.4485-2A>T
|
rs80358054
|
|
|
NM_007294.4(BRCA1):c.4509dup (p.Leu1504fs)
|
|
|
|
NM_007294.4(BRCA1):c.4511T>G (p.Leu1504Ter)
|
|
|
|
NM_007294.4(BRCA1):c.4533_4534insT (p.Ser1512Ter)
|
|
|
|
NM_007294.4(BRCA1):c.4534del (p.Ser1512fs)
|
rs1567778176
|
|
|
NM_007294.4(BRCA1):c.4568del (p.Pro1523fs)
|
rs1567778075
|
|
|
NM_007294.4(BRCA1):c.4623_4632del (p.Glu1541fs)
|
rs1567777811
|
|
|
NM_007294.4(BRCA1):c.4643del (p.Thr1548fs)
|
rs2153993720
|
|
|
NM_007294.4(BRCA1):c.4645_4646dup (p.Thr1550fs)
|
rs2153992821
|
|
|
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs)
|
rs80357561
|
|
|
NM_007294.4(BRCA1):c.4658del (p.Leu1553fs)
|
rs2052588740
|
|
|
NM_007294.4(BRCA1):c.4675+1G>C
|
rs80358044
|
|
|
NM_007294.4(BRCA1):c.4675+2T>G
|
rs879255293
|
|
|
NM_007294.4(BRCA1):c.4675+3A>G
|
rs80358082
|
|
|
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln)
|
rs80356988
|
|
|
NM_007294.4(BRCA1):c.4676-1G>A
|
rs80358008
|
|
|
NM_007294.4(BRCA1):c.4676-1G>C
|
rs80358008
|
|
|
NM_007294.4(BRCA1):c.4676-2A>C
|
rs80358096
|
|
|
NM_007294.4(BRCA1):c.4676-2A>G
|
rs80358096
|
|
|
NM_007294.4(BRCA1):c.4781del (p.Pro1594fs)
|
rs2052409873
|
|
|
NM_007294.4(BRCA1):c.4810del (p.Gln1604fs)
|
rs1555580900
|
|
|
NM_007294.4(BRCA1):c.4821del (p.Ala1608fs)
|
rs2153836342
|
|
|
NM_007294.4(BRCA1):c.4834_4835del (p.Gln1612fs)
|
rs1555580840
|
|
|
NM_007294.4(BRCA1):c.4837_4838delinsGCC (p.Ser1613fs)
|
rs730880287
|
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
|
NM_007294.4(BRCA1):c.4870_4871insA (p.Gly1624fs)
|
rs2052392843
|
|
|
NM_007294.4(BRCA1):c.4888G>T (p.Glu1630Ter)
|
rs1173155015
|
|
|
NM_007294.4(BRCA1):c.4957G>T (p.Val1653Leu)
|
rs80357261
|
|
|
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro)
|
rs1057518639
|
|
|
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)
|
rs80357390
|
|
|
NM_007294.4(BRCA1):c.4986+3G>C
|
rs80358023
|
|
|
NM_007294.4(BRCA1):c.4986+4A>T
|
rs80358087
|
|
|
NM_007294.4(BRCA1):c.4986+5G>A
|
rs397509211
|
|
|
NM_007294.4(BRCA1):c.4986+5G>C
|
rs397509211
|
|
|
NM_007294.4(BRCA1):c.4986+6T>G
|
rs80358086
|
|
|
NM_007294.4(BRCA1):c.4987-16T>G
|
|
|
|
NM_007294.4(BRCA1):c.4987-1G>A
|
rs730881495
|
|
|
NM_007294.4(BRCA1):c.4987-3C>G
|
rs397509213
|
|
|
NM_007294.4(BRCA1):c.4987-5T>C
|
rs397509214
|
|
|
NM_007294.4(BRCA1):c.4988T>G (p.Met1663Arg)
|
rs80357205
|
|
|
NM_007294.4(BRCA1):c.5003T>C (p.Phe1668Ser)
|
rs1567772408
|
|
|
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
|
rs80358343
|
|
|
NM_007294.4(BRCA1):c.503_505delinsT (p.Lys168fs)
|
|
|
|
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs)
|
rs879255283
|
|
|
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala)
|
rs80356890
|
|
|
NM_007294.4(BRCA1):c.5054_5057dup (p.Val1687fs)
|
rs879254050
|
|
|
NM_007294.4(BRCA1):c.5056C>G (p.His1686Asp)
|
rs1555579648
|
|
|
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr)
|
rs1555579648
|
|
|
NM_007294.4(BRCA1):c.5057A>C (p.His1686Pro)
|
rs730882166
|
|
|
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)
|
rs730882166
|
|
|
NM_007294.4(BRCA1):c.5060T>G (p.Val1687Gly)
|
rs1555579627
|
|
|
NM_007294.4(BRCA1):c.5062G>T (p.Val1688Phe)
|
rs2052159968
|
|
|
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)
|
rs80357061
|
|
|
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys)
|
rs80357034
|
|
|
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)
|
rs80357034
|
|
|
NM_007294.4(BRCA1):c.5073A>T (p.Thr1691=)
|
rs80356853
|
|
|
NM_007294.4(BRCA1):c.5074+1G>T
|
rs80358053
|
|
|
NM_007294.4(BRCA1):c.5074+1del
|
rs1597825560
|
|
|
NM_007294.4(BRCA1):c.5074+2T>C
|
rs80358089
|
|
|
NM_007294.4(BRCA1):c.5074+3A>G
|
rs80358181
|
|
|
NM_007294.4(BRCA1):c.5074+3A>T
|
rs80358181
|
|
|
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)
|
rs80187739
|
|
|
NM_007294.4(BRCA1):c.5075-1G>A
|
rs1800747
|
|
|
NM_007294.4(BRCA1):c.5075-3C>G
|
rs398122690
|
|
|
NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala)
|
rs397509222
|
|
|
NM_007294.4(BRCA1):c.5076T>A (p.Asp1692Glu)
|
rs2051937547
|
|
|
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del)
|
rs80358345
|
|
|
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)
|
rs80356993
|
|
|
NM_007294.4(BRCA1):c.5089T>G (p.Cys1697Gly)
|
rs80356993
|
|
|
NM_007294.4(BRCA1):c.5089_5092del (p.Cys1697fs)
|
rs80357710
|
|
|
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr)
|
rs397507241
|
|
|
NM_007294.4(BRCA1):c.5090G>T (p.Cys1697Phe)
|
rs397507241
|
|
|
NM_007294.4(BRCA1):c.5091T>G (p.Cys1697Trp)
|
rs1597820426
|
|
|
NM_007294.4(BRCA1):c.5092G>T (p.Glu1698Ter)
|
rs2051929740
|
|
|
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro)
|
rs41293459
|
|
|
NM_007294.4(BRCA1):c.5096G>T (p.Arg1699Leu)
|
rs41293459
|
|
|
NM_007294.4(BRCA1):c.5098A>G (p.Thr1700Ala)
|
rs397509227
|
|
|
NM_007294.4(BRCA1):c.5105A>T (p.Lys1702Ile)
|
rs2051924695
|
|
|
NM_007294.4(BRCA1):c.5107T>C (p.Tyr1703His)
|
rs863224763
|
|
|
NM_007294.4(BRCA1):c.5107T>G (p.Tyr1703Asp)
|
rs863224763
|
|
|
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys)
|
rs876660071
|
|
|
NM_007294.4(BRCA1):c.5111T>A (p.Phe1704Tyr)
|
rs1555578598
|
|
|
NM_007294.4(BRCA1):c.5111T>C (p.Phe1704Ser)
|
rs1555578598
|
|
|
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)
|
rs80356860
|
|
|
NM_007294.4(BRCA1):c.5117G>T (p.Gly1706Val)
|
rs80356860
|
|
|
NM_007294.4(BRCA1):c.5131A>G (p.Lys1711Glu)
|
rs886040272
|
|
|
NM_007294.4(BRCA1):c.5133del (p.Lys1711fs)
|
rs730880288
|
|
|
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)
|
rs80357132
|
|
|
NM_007294.4(BRCA1):c.5140G>T (p.Val1714Phe)
|
rs1567769244
|
|
|
NM_007294.4(BRCA1):c.5141T>C (p.Val1714Ala)
|
rs80357243
|
|
|
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly)
|
rs80357243
|
|
|
NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys)
|
rs80357222
|
|
|
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)
|
rs45444999
|
|
|
NM_007294.4(BRCA1):c.5145C>A (p.Ser1715Arg)
|
rs80357094
|
|
|
NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg)
|
rs80357094
|
|
|
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs)
|
rs80357720
|
|
|
NM_007294.4(BRCA1):c.5152+2dup
|
rs397509231
|
|
|
NM_007294.4(BRCA1):c.5152+5G>A
|
rs80358165
|
|
|
NM_007294.4(BRCA1):c.5152+5G>C
|
rs80358165
|
|
|
NM_007294.4(BRCA1):c.5152+5G>T
|
rs80358165
|
|
|
NM_007294.4(BRCA1):c.5152+6T>A
|
rs80358074
|
|
|
NM_007294.4(BRCA1):c.5152+6T>C
|
rs80358074
|
|
|
NM_007294.4(BRCA1):c.5152+6T>G
|
rs80358074
|
|
|
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly)
|
rs1567769155
|
|
|
NM_007294.4(BRCA1):c.5153-1G>C
|
rs80358137
|
|
|
NM_007294.4(BRCA1):c.5153G>C (p.Trp1718Ser)
|
rs41293461
|
|
|
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)
|
rs80357239
|
|
|
NM_007294.4(BRCA1):c.5156del (p.Val1719fs)
|
rs1057517590
|
|
|
NM_007294.4(BRCA1):c.5161del (p.Gln1721fs)
|
rs2051868691
|
|
|
NM_007294.4(BRCA1):c.5162A>C (p.Gln1721Pro)
|
rs2051867806
|
|
|
NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro)
|
rs483353100
|
|
|
NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr)
|
rs80357104
|
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
|
NM_007294.4(BRCA1):c.5186del (p.Leu1729fs)
|
rs398122692
|
|
|
NM_007294.4(BRCA1):c.5191G>T (p.Glu1731Ter)
|
rs397507244
|
|
|
NM_007294.4(BRCA1):c.5194-12G>A
|
rs80358079
|
|
|
NM_007294.4(BRCA1):c.5200T>A (p.Phe1734Ile)
|
rs80356957
|
|
|
NM_007294.4(BRCA1):c.5202T>G (p.Phe1734Leu)
|
rs869320780
|
|
|
NM_007294.4(BRCA1):c.5206G>T (p.Val1736Phe)
|
rs377595653
|
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
|
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly)
|
rs45553935
|
|
|
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)
|
rs80356937
|
|
|
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu)
|
rs80357450
|
|
|
NM_007294.4(BRCA1):c.5215G>A (p.Asp1739Asn)
|
rs80357283
|
|
|
NM_007294.4(BRCA1):c.5215G>T (p.Asp1739Tyr)
|
rs80357283
|
|
|
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)
|
rs80357227
|
|
|
NM_007294.4(BRCA1):c.5216A>T (p.Asp1739Val)
|
rs80357227
|
|
|
NM_007294.4(BRCA1):c.5219_5224del (p.Val1740_Asn1742delinsAsp)
|
rs1555576941
|
|
|
NM_007294.4(BRCA1):c.5227G>A (p.Gly1743Arg)
|
rs2051517323
|
|
|
NM_007294.4(BRCA1):c.5228G>A (p.Gly1743Glu)
|
rs1346819781
|
|
|
NM_007294.4(BRCA1):c.5232_5238delinsGTCCAAAGCGAG (p.Asn1745fs)
|
rs483353071
|
|
|
NM_007294.4(BRCA1):c.5236C>G (p.His1746Asp)
|
rs80357146
|
|
|
NM_007294.4(BRCA1):c.5240A>C (p.Gln1747Pro)
|
rs2051510661
|
|
|
NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg)
|
rs397507245
|
|
|
NM_007294.4(BRCA1):c.5242G>T (p.Gly1748Cys)
|
rs397507245
|
|
|
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)
|
rs397509243
|
|
|
NM_007294.4(BRCA1):c.5251C>G (p.Arg1751Gly)
|
rs80357123
|
|
|
NM_007294.4(BRCA1):c.5252G>C (p.Arg1751Pro)
|
rs80357442
|
|
|
NM_007294.4(BRCA1):c.5254G>C (p.Ala1752Pro)
|
rs80357074
|
|
|
NM_007294.4(BRCA1):c.5257A>G (p.Arg1753Gly)
|
rs1597810544
|
|
|
NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr)
|
rs397509246
|
|
|
NM_007294.4(BRCA1):c.5259A>T (p.Arg1753Ser)
|
rs771577266
|
|
|
NM_007294.4(BRCA1):c.5278-2A>C
|
rs397509253
|
|
|
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser)
|
rs80356905
|
|
|
NM_007294.4(BRCA1):c.5282T>G (p.Phe1761Cys)
|
rs80356905
|
|
|
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro)
|
rs80357281
|
|
|
NM_007294.4(BRCA1):c.5297T>C (p.Ile1766Thr)
|
rs80357463
|
|
|
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser)
|
rs80357463
|
|
|
NM_007294.4(BRCA1):c.5300G>T (p.Cys1767Phe)
|
rs1597804426
|
|
|
NM_007294.4(BRCA1):c.5302del (p.Cys1768fs)
|
rs886040289
|
|
|
NM_007294.4(BRCA1):c.5306dup (p.Tyr1769Ter)
|
rs2153070428
|
|
|
NM_007294.4(BRCA1):c.5307T>G (p.Tyr1769Ter)
|
rs397509258
|
|
|
NM_007294.4(BRCA1):c.5307_5308insCACCAACATGCCCTTCACCT (p.Gly1770fs)
|
rs2153069688
|
|
|
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val)
|
rs863224765
|
|
|
NM_007294.4(BRCA1):c.5310_5311del (p.Pro1771fs)
|
rs587781825
|
|
|
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys)
|
rs41293463
|
|
|
NM_007294.4(BRCA1):c.5324T>C (p.Met1775Thr)
|
rs41293463
|
|
|
NM_007294.4(BRCA1):c.5327_5328dup (p.Thr1777fs)
|
|
|
|
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn)
|
rs80357112
|
|
|
NM_007294.4(BRCA1):c.5333-1G>A
|
rs80358126
|
|
|
NM_007294.4(BRCA1):c.5333-2A>T
|
rs397509264
|
|
|
NM_007294.4(BRCA1):c.5333-3T>G
|
rs397509265
|
|
|
NM_007294.4(BRCA1):c.5333-6T>G
|
rs397509266
|
|
|
NM_007294.4(BRCA1):c.5339T>A (p.Leu1780Gln)
|
rs80357474
|
|
|
NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg)
|
rs80357474
|
|
|
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)
|
rs398122697
|
|
|
NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr)
|
rs1597801649
|
|
|
NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys)
|
rs397509271
|
|
|
NM_007294.4(BRCA1):c.5363G>C (p.Gly1788Ala)
|
rs80357069
|
|
|
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr)
|
rs80357078
|
|
|
NM_007294.4(BRCA1):c.5366C>A (p.Ala1789Asp)
|
rs2051085308
|
|
|
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys)
|
rs80356929
|
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
|
|
NM_007294.4(BRCA1):c.53T>G (p.Met18Arg)
|
rs80356929
|
|
|
NM_007294.4(BRCA1):c.5406+1_5406+3del
|
rs397509277
|
|
|
NM_007294.4(BRCA1):c.5406+2T>G
|
rs2051071309
|
|
|
NM_007294.4(BRCA1):c.5406+4_5406+7del
|
rs1555575073
|
|
|
NM_007294.4(BRCA1):c.5406+5G>C
|
rs80358073
|
|
|
NM_007294.4(BRCA1):c.5407-2A>G
|
rs80358002
|
|
|
NM_007294.4(BRCA1):c.5407-9G>A
|
rs551078372
|
|
|
NM_007294.4(BRCA1):c.5425G>T (p.Val1809Phe)
|
rs28897698
|
|
|
NM_007294.4(BRCA1):c.5426T>C (p.Val1809Ala)
|
rs80357216
|
|
|
NM_007294.4(BRCA1):c.5427dup (p.Val1810fs)
|
rs1555574739
|
|
|
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)
|
rs397509283
|
|
|
NM_007294.4(BRCA1):c.5432A>C (p.Gln1811Pro)
|
rs80357040
|
|
|
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg)
|
rs80357040
|
|
|
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala)
|
rs1800751
|
|
|
NM_007294.4(BRCA1):c.5440dup (p.Ala1814fs)
|
rs1057517637
|
|
|
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly)
|
rs80357477
|
|
|
NM_007294.4(BRCA1):c.5467+2T>G
|
rs80358009
|
|
|
NM_007294.4(BRCA1):c.5467+5G>T
|
rs397509287
|
|
|
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr)
|
rs80357212
|
|
|
NM_007294.4(BRCA1):c.5468-1_5468delinsTT
|
rs1597797251
|
|
|
NM_007294.4(BRCA1):c.5468-2A>G
|
rs398122699
|
|
|
NM_007294.4(BRCA1):c.547+1G>A
|
rs80358030
|
|
|
NM_007294.4(BRCA1):c.547+1G>C
|
rs80358030
|
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
|
NM_007294.4(BRCA1):c.5497G>T (p.Val1833Leu)
|
|
|
|
NM_007294.4(BRCA1):c.5498T>G (p.Val1833Gly)
|
|
|
|
NM_007294.4(BRCA1):c.5502_5503del (p.Glu1836fs)
|
|
|
|
NM_007294.4(BRCA1):c.5502_5503dup (p.Arg1835fs)
|
rs397509291
|
|
|
NM_007294.4(BRCA1):c.5503C>G (p.Arg1835Gly)
|
rs41293465
|
|
|
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)
|
rs80356959
|
|
|
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)
|
rs80356959
|
|
|
NM_007294.4(BRCA1):c.5510_5511delinsCT (p.Trp1837Ser)
|
rs2152547868
|
|
|
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys)
|
rs80356914
|
|
|
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu)
|
rs80357107
|
|
|
NM_007294.4(BRCA1):c.5513T>G (p.Val1838Gly)
|
rs80357107
|
|
|
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser)
|
rs398122702
|
|
|
NM_007294.4(BRCA1):c.5517_5518insC (p.Asp1840fs)
|
rs1597796956
|
|
|
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg)
|
rs80357299
|
|
|
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn)
|
rs80357368
|
|
|
NM_007294.4(BRCA1):c.5522G>C (p.Ser1841Thr)
|
rs80357368
|
|
|
NM_007294.4(BRCA1):c.5522G>T (p.Ser1841Ile)
|
rs80357368
|
|
|
NM_007294.4(BRCA1):c.5525T>A (p.Val1842Glu)
|
rs1555574400
|
|
|
NM_007294.4(BRCA1):c.5527G>C (p.Ala1843Pro)
|
rs80357019
|
|
|
NM_007294.4(BRCA1):c.5534_5539delinsCCAGTGCCAGGACAGCAGG (p.Tyr1845fs)
|
rs483353102
|
|
|
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter)
|
rs80356873
|
|
|
NM_007294.4(BRCA1):c.5541C>A (p.Cys1847Ter)
|
rs397509295
|
|
|
NM_007294.4(BRCA1):c.5551_5552insT (p.Asp1851fs)
|
|
|
|
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs)
|
rs886040305
|
|
|
NM_007294.4(BRCA1):c.5557T>A (p.Tyr1853Asn)
|
rs2050860958
|
|
|
NM_007294.4(BRCA1):c.5557T>C (p.Tyr1853His)
|
rs2050860958
|
|
|
NM_007294.4(BRCA1):c.5557_5569del (p.Tyr1853fs)
|
rs2050856829
|
|
|
NM_007294.4(BRCA1):c.5557del (p.Tyr1853fs)
|
|
|
|
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys)
|
rs80357258
|
|
|
NM_007294.4(BRCA1):c.5558_5561dup (p.Ile1855fs)
|
rs2050859456
|
|
|
NM_007294.4(BRCA1):c.5563delinsGGATCC (p.Ile1855fs)
|
rs483353103
|
|
|
NM_007294.4(BRCA1):c.5564_5566delinsAA (p.Ile1855fs)
|
|
|
|
NM_007294.4(BRCA1):c.5569del (p.Gln1857fs)
|
rs886039675
|
|
|
NM_007294.4(BRCA1):c.5578del (p.His1860fs)
|
rs397507254
|
|
|
NM_007294.4(BRCA1):c.5578dup (p.His1860fs)
|
rs397507254
|
|
|
NM_007294.4(BRCA1):c.593+1G>A
|
rs1567804153
|
|
|
NM_007294.4(BRCA1):c.593+4del
|
rs1555594036
|
|
|
NM_007294.4(BRCA1):c.626del (p.Pro209fs)
|
rs886040920
|
|
|
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)
|
rs80357438
|
|
|
NM_007294.4(BRCA1):c.664A>T (p.Lys222Ter)
|
|
|
|
NM_007294.4(BRCA1):c.670+1G>A
|
|
|
|
NM_007294.4(BRCA1):c.670+295_844del
|
rs2154490085
|
|
|
NM_007294.4(BRCA1):c.670G>A (p.Ala224Thr)
|
rs431825419
|
|
|
NM_007294.4(BRCA1):c.671-1G>A
|
rs80358020
|
|
|
NM_007294.4(BRCA1):c.671-1G>C
|
rs80358020
|
|
|
NM_007294.4(BRCA1):c.671-215_901del
|
rs1555592870
|
|
|
NM_007294.4(BRCA1):c.671-2A>C
|
rs80358108
|
|
|
NM_007294.4(BRCA1):c.671-2A>G
|
rs80358108
|
|
|
NM_007294.4(BRCA1):c.672del (p.Ala225fs)
|
rs2154500888
|
|
|
NM_007294.4(BRCA1):c.67_72del (p.Glu23_Cys24del)
|
|
|
|
NM_007294.4(BRCA1):c.685del (p.Ser229fs)
|
rs80357824
|
|
|
NM_007294.4(BRCA1):c.701_702del (p.Thr234fs)
|
|
|
|
NM_007294.4(BRCA1):c.70T>A (p.Cys24Ser)
|
rs80357410
|
|
|
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg)
|
rs80357410
|
|
|
NM_007294.4(BRCA1):c.70T>G (p.Cys24Gly)
|
rs80357410
|
|
|
NM_007294.4(BRCA1):c.715del (p.His239fs)
|
rs879255294
|
|
|
NM_007294.4(BRCA1):c.71G>A (p.Cys24Tyr)
|
rs80357198
|
|
|
NM_007294.4(BRCA1):c.71G>C (p.Cys24Ser)
|
rs80357198
|
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
|
NM_007294.4(BRCA1):c.80+5G>A
|
rs80358045
|
|
|
NM_007294.4(BRCA1):c.80G>A (p.Cys27Tyr)
|
rs1064793052
|
|
|
NM_007294.4(BRCA1):c.80G>C (p.Cys27Ser)
|
rs1064793052
|
|
|
NM_007294.4(BRCA1):c.80G>T (p.Cys27Phe)
|
rs1064793052
|
|
|
NM_007294.4(BRCA1):c.83del (p.Leu28fs)
|
rs1555599281
|
|
|
NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter)
|
rs730881468
|
|
|
NM_007294.4(BRCA1):c.915dup (p.Asn306Ter)
|
rs2154485546
|
|
|
NM_007294.4(BRCA1):c.933del (p.Gly312fs)
|
rs1135401839
|
|
|
NM_007294.4(BRCA1):c.942_956delinsCTTACTTC (p.Arg315fs)
|
rs1555592766
|
|
|
NM_007294.4(BRCA1):c.959del (p.Arg320fs)
|
|
|
|
NM_007317.3(KIF22):c.1399G>A (p.Glu467Lys)
|
rs1596854441
|
|
|
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu)
|
rs193922921
|
|
|
NM_007317.3(KIF22):c.752T>C (p.Leu251Pro)
|
rs2142373200
|
|
|
NM_007327.4(GRIN1):c.1113+2T>C
|
|
|
|
NM_007327.4(GRIN1):c.1340-1del
|
|
|
|
NM_007327.4(GRIN1):c.1447A>C (p.Lys483Gln)
|
|
|
|
NM_007327.4(GRIN1):c.1467+2T>G
|
|
|
|
NM_007327.4(GRIN1):c.1592A>G (p.Lys531Arg)
|
|
|
|
NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln)
|
rs1554770044
|
|
|
NM_007327.4(GRIN1):c.1645A>C (p.Ser549Arg)
|
rs1554770046
|
|
|
NM_007327.4(GRIN1):c.1664T>C (p.Met555Thr)
|
rs2131297403
|
|
|
NM_007327.4(GRIN1):c.1667A>G (p.Gln556Arg)
|
rs1833594325
|
|
|
NM_007327.4(GRIN1):c.1847A>G (p.Asn616Ser)
|
rs1564363665
|
|
|
NM_007327.4(GRIN1):c.1850C>T (p.Ser617Phe)
|
rs2131298649
|
|
|
NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg)
|
rs1833614590
|
|
|
NM_007327.4(GRIN1):c.1858G>A (p.Gly620Arg)
|
rs797045047
|
|
|
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg)
|
rs797045047
|
|
|
NM_007327.4(GRIN1):c.1898G>T (p.Gly633Val)
|
|
|
|
NM_007327.4(GRIN1):c.1904T>C (p.Val635Ala)
|
|
|
|
NM_007327.4(GRIN1):c.1913G>C (p.Gly638Ala)
|
rs1393555703
|
|
|
NM_007327.4(GRIN1):c.1918G>C (p.Ala640Pro)
|
|
|
|
NM_007327.4(GRIN1):c.1921A>G (p.Met641Val)
|
rs2131299136
|
|
|
NM_007327.4(GRIN1):c.1921A>T (p.Met641Leu)
|
rs2131299136
|
|
|
NM_007327.4(GRIN1):c.1922T>C (p.Met641Thr)
|
rs1588732344
|
|
|
NM_007327.4(GRIN1):c.1931T>C (p.Val644Ala)
|
|
|
|
NM_007327.4(GRIN1):c.1939T>C (p.Tyr647His)
|
rs1833621750
|
|
|
NM_007327.4(GRIN1):c.1976G>A (p.Arg659Gln)
|
rs2131299400
|
|
|
NM_007327.4(GRIN1):c.2013+2T>G
|
|
|
|
NM_007327.4(GRIN1):c.2171+1G>A
|
|
|
|
NM_007327.4(GRIN1):c.2231G>A (p.Cys744Tyr)
|
rs1554770444
|
|
|
NM_007327.4(GRIN1):c.2377G>T (p.Val793Phe)
|
|
|
|
NM_007327.4(GRIN1):c.2380C>G (p.Arg794Gly)
|
rs1423513108
|
|
|
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln)
|
rs781053477
|
|
|
NM_007327.4(GRIN1):c.2381G>C (p.Arg794Pro)
|
|
|
|
NM_007327.4(GRIN1):c.2417C>A (p.Ala806Glu)
|
rs1554770589
|
|
|
NM_007327.4(GRIN1):c.2417C>T (p.Ala806Val)
|
rs1554770589
|
|
|
NM_007327.4(GRIN1):c.2420C>T (p.Thr807Ile)
|
rs1554770590
|
|
|
NM_007327.4(GRIN1):c.2444-2A>G
|
rs1833698471
|
|
|
NM_007327.4(GRIN1):c.2444-2_2448del
|
|
|
|
NM_007327.4(GRIN1):c.2444G>A (p.Gly815Glu)
|
rs1833698535
|
|
|
NM_007327.4(GRIN1):c.2446G>T (p.Val816Phe)
|
|
|
|
NM_007327.4(GRIN1):c.2452A>C (p.Met818Leu)
|
rs1554770628
|
|
|
NM_007327.4(GRIN1):c.2453T>G (p.Met818Arg)
|
|
|
|
NM_007327.4(GRIN1):c.2500G>C (p.Glu834Gln)
|
rs1588735834
|
|
|
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys)
|
rs1554770667
|
|
|
NM_007327.4(GRIN1):c.2815T>G (p.Ter939Gly)
|
|
|
|
NM_007327.4(GRIN1):c.352G>A (p.Val118Met)
|
rs1588686286
|
|
|
NM_007327.4(GRIN1):c.421G>A (p.Val141Met)
|
rs1293947350
|
|
|
NM_007327.4(GRIN1):c.448G>A (p.Val150Met)
|
rs1187375556
|
|
|
NM_007327.4(GRIN1):c.514G>A (p.Glu172Lys)
|
|
|
|
NM_007327.4(GRIN1):c.679G>C (p.Asp227His)
|
|
|
|
NM_007327.4(GRIN1):c.969-1G>C
|
|
|
|
NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys)
|
rs1565548029
|
|
|
NM_012086.5(GTF3C3):c.1390+3A>G
|
|
|
|
NM_012470.4(TNPO3):c.1423dup (p.Thr475fs)
|
|
|
|
NM_012470.4(TNPO3):c.2430+1G>A
|
|
|
|
NM_012470.4(TNPO3):c.2767del (p.Arg923fs)
|
rs1563083759
|
|
|
NM_013275.6(ANKRD11):c.1009C>T (p.Gln337Ter)
|
rs2151766442
|
|
|
NM_013275.6(ANKRD11):c.1018dup (p.Thr340fs)
|
rs2151766359
|
|
|
NM_013275.6(ANKRD11):c.1063C>T (p.Gln355Ter)
|
|
|
|
NM_013275.6(ANKRD11):c.1119del (p.Glu374fs)
|
|
|
|
NM_013275.6(ANKRD11):c.1518_1536del (p.Leu507fs)
|
|
|
|
NM_013275.6(ANKRD11):c.1708_1711del (p.Thr571fs)
|
rs2151763094
|
|
|
NM_013275.6(ANKRD11):c.1763C>A (p.Ser588Ter)
|
|
|
|
NM_013275.6(ANKRD11):c.1861A>T (p.Lys621Ter)
|
rs2151762320
|
|
|
NM_013275.6(ANKRD11):c.1974_1977dup (p.Glu660fs)
|
|
|
|
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter)
|
rs749201074
|
|
|
NM_013275.6(ANKRD11):c.2006A>C (p.Asp669Ala)
|
rs1597462279
|
|
|
NM_013275.6(ANKRD11):c.2063dup (p.His689fs)
|
|
|
|
NM_013275.6(ANKRD11):c.2089G>T (p.Glu697Ter)
|
rs2151761457
|
|
|
NM_013275.6(ANKRD11):c.2092_2096del (p.Glu698fs)
|
rs2034502951
|
|
|
NM_013275.6(ANKRD11):c.211_226+1del
|
|
|
|
NM_013275.6(ANKRD11):c.2161dup (p.Ile721fs)
|
|
|
|
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)
|
rs886039734
|
|
|
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter)
|
rs886041791
|
|
|
NM_013275.6(ANKRD11):c.226G>A (p.Glu76Lys)
|
rs1555535454
|
|
|
NM_013275.6(ANKRD11):c.2297_2300del (p.Lys766fs)
|
rs2034487965
|
|
|
NM_013275.6(ANKRD11):c.2321C>G (p.Ser774Ter)
|
|
|
|
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter)
|
rs1597461100
|
|
|
NM_013275.6(ANKRD11):c.2405_2406del (p.Leu802fs)
|
|
|
|
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs)
|
rs886039902
|
|
|
NM_013275.6(ANKRD11):c.2499_2502del (p.Ser834fs)
|
|
|
|
NM_013275.6(ANKRD11):c.2609_2612dup (p.Asp871fs)
|
rs1597459998
|
|
|
NM_013275.6(ANKRD11):c.2615_2616del (p.Ser872fs)
|
rs2034464204
|
|
|
NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs)
|
rs2034464059
|
|
|
NM_013275.6(ANKRD11):c.2647del (p.Glu883fs)
|
rs2151758908
|
|
|
NM_013275.6(ANKRD11):c.277_283dup (p.Gly95fs)
|
|
|
|
NM_013275.6(ANKRD11):c.2853_2856del (p.Lys952fs)
|
rs2151757918
|
|
|
NM_013275.6(ANKRD11):c.2863del (p.Leu955fs)
|
|
|
|
NM_013275.6(ANKRD11):c.291del (p.Phe98fs)
|
|
|
|
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter)
|
rs752918694
|
|
|
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter)
|
rs1064793539
|
|
|
NM_013275.6(ANKRD11):c.316C>T (p.Arg106Ter)
|
|
|
|
NM_013275.6(ANKRD11):c.3201dup (p.Asp1068fs)
|
|
|
|
NM_013275.6(ANKRD11):c.3228_3232del (p.Arg1076fs)
|
|
|
|
NM_013275.6(ANKRD11):c.3268del (p.Ala1090fs)
|
|
|
|
NM_013275.6(ANKRD11):c.3382_3383del (p.Asp1128fs)
|
|
|
|
NM_013275.6(ANKRD11):c.3547_3548del (p.Asp1183fs)
|
|
|
|
NM_013275.6(ANKRD11):c.3597_3598del (p.Lys1200fs)
|
|
|
|
NM_013275.6(ANKRD11):c.3651dup (p.Lys1218fs)
|
|
|
|
NM_013275.6(ANKRD11):c.3706C>T (p.Gln1236Ter)
|
rs1555528356
|
|
|
NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs)
|
rs2151753260
|
|
|
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter)
|
rs2034353033
|
|
|
NM_013275.6(ANKRD11):c.4140_4141del (p.Tyr1380_Lys1381delinsTer)
|
|
|
|
NM_013275.6(ANKRD11):c.4288A>T (p.Lys1430Ter)
|
rs1555527929
|
|
|
NM_013275.6(ANKRD11):c.4306_4307del (p.Glu1436fs)
|
|
|
|
NM_013275.6(ANKRD11):c.4333_4336del (p.Leu1445fs)
|
|
|
|
NM_013275.6(ANKRD11):c.4381_4382del (p.Lys1461fs)
|
rs2034308476
|
|
|
NM_013275.6(ANKRD11):c.4396_4397del (p.Arg1466fs)
|
rs2151750068
|
|
|
NM_013275.6(ANKRD11):c.4634del (p.Pro1545fs)
|
|
|
|
NM_013275.6(ANKRD11):c.496G>T (p.Glu166Ter)
|
|
|
|
NM_013275.6(ANKRD11):c.4997dup (p.Asn1666fs)
|
|
|
|
NM_013275.6(ANKRD11):c.5053del (p.His1684_Met1685insTer)
|
rs1555527341
|
|
|
NM_013275.6(ANKRD11):c.5089C>T (p.Gln1697Ter)
|
|
|
|
NM_013275.6(ANKRD11):c.5146G>T (p.Glu1716Ter)
|
|
|
|
NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter)
|
rs2151745705
|
|
|
NM_013275.6(ANKRD11):c.5558dup (p.Asp1854fs)
|
|
|
|
NM_013275.6(ANKRD11):c.5686_5697delinsACCAGCA (p.Ala1896fs)
|
|
|
|
NM_013275.6(ANKRD11):c.5865del (p.Glu1955fs)
|
rs2034142706
|
|
|
NM_013275.6(ANKRD11):c.5974A>C (p.Lys1992Gln)
|
rs763207005
|
|
|
NM_013275.6(ANKRD11):c.6101del (p.Leu2034fs)
|
|
|
|
NM_013275.6(ANKRD11):c.6168C>G (p.Tyr2056Ter)
|
|
|
|
NM_013275.6(ANKRD11):c.6253_6254insACAC (p.Cys2085fs)
|
|
|
|
NM_013275.6(ANKRD11):c.626G>A (p.Cys209Tyr)
|
|
|
|
NM_013275.6(ANKRD11):c.6295G>T (p.Glu2099Ter)
|
|
|
|
NM_013275.6(ANKRD11):c.637del (p.Tyr213fs)
|
|
|
|
NM_013275.6(ANKRD11):c.6469del (p.Glu2157fs)
|
rs2034054366
|
|
|
NM_013275.6(ANKRD11):c.6685G>T (p.Glu2229Ter)
|
|
|
|
NM_013275.6(ANKRD11):c.6739_6740insCC (p.Glu2247fs)
|
|
|
|
NM_013275.6(ANKRD11):c.6766C>T (p.Gln2256Ter)
|
rs1168428802
|
|
|
NM_013275.6(ANKRD11):c.6836_6837del (p.Val2279fs)
|
rs1555525296
|
|
|
NM_013275.6(ANKRD11):c.6982C>T (p.Arg2328Ter)
|
|
|
|
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)
|
rs1555525088
|
|
|
NM_013275.6(ANKRD11):c.6983del (p.Arg2328fs)
|
|
|
|
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter)
|
rs2151730563
|
|
|
NM_013275.6(ANKRD11):c.7180C>T (p.Gln2394Ter)
|
rs863225296
|
|
|
NM_013275.6(ANKRD11):c.7225G>T (p.Glu2409Ter)
|
|
|
|
NM_013275.6(ANKRD11):c.7234C>T (p.Gln2412Ter)
|
rs886042019
|
|
|
NM_013275.6(ANKRD11):c.7267A>T (p.Lys2423Ter)
|
|
|
|
NM_013275.6(ANKRD11):c.7354C>G (p.Arg2452Gly)
|
rs1064795497
|
|
|
NM_013275.6(ANKRD11):c.7355G>C (p.Arg2452Pro)
|
rs781584370
|
|
|
NM_013275.6(ANKRD11):c.7407C>G (p.Tyr2469Ter)
|
rs370673579
|
|
|
NM_013275.6(ANKRD11):c.744G>C (p.Lys248Asn)
|
rs2151783410
|
|
|
NM_013275.6(ANKRD11):c.745-2A>G
|
|
|
|
NM_013275.6(ANKRD11):c.7523A>T (p.Gln2508Leu)
|
rs2151703297
|
|
|
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)
|
rs2033536147
|
|
|
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln)
|
rs2033535934
|
|
|
NM_013275.6(ANKRD11):c.7535G>C (p.Arg2512Pro)
|
|
|
|
NM_013275.6(ANKRD11):c.7544T>C (p.Leu2515Pro)
|
rs2151703162
|
|
|
NM_013275.6(ANKRD11):c.7564G>A (p.Glu2522Lys)
|
rs2033533123
|
|
|
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp)
|
rs2151701893
|
|
|
NM_013275.6(ANKRD11):c.7607G>A (p.Arg2536Gln)
|
rs2033511172
|
|
|
NM_013275.6(ANKRD11):c.7660G>A (p.Ala2554Thr)
|
|
|
|
NM_013275.6(ANKRD11):c.7663T>C (p.Cys2555Arg)
|
|
|
|
NM_013275.6(ANKRD11):c.7684G>A (p.Glu2562Lys)
|
rs2151701503
|
|
|
NM_013275.6(ANKRD11):c.7714-1G>C
|
rs2151676035
|
|
|
NM_013275.6(ANKRD11):c.7736G>A (p.Arg2579His)
|
|
|
|
NM_013275.6(ANKRD11):c.7751C>A (p.Ala2584Asp)
|
rs1555521799
|
|
|
NM_013275.6(ANKRD11):c.7765T>C (p.Ser2589Pro)
|
rs2151675756
|
|
|
NM_013275.6(ANKRD11):c.7789A>T (p.Lys2597Ter)
|
rs2033085976
|
|
|
NM_013275.6(ANKRD11):c.7806+2T>C
|
|
|
|
NM_013275.6(ANKRD11):c.7806G>C (p.Lys2602Asn)
|
|
|
|
NM_013275.6(ANKRD11):c.7822C>T (p.Arg2608Trp)
|
rs1597389370
|
|
|
NM_013275.6(ANKRD11):c.7944C>A (p.Tyr2648Ter)
|
rs972669347
|
|
|
NM_013275.6(ANKRD11):c.893-2A>G
|
rs2151766883
|
|
|
NM_013275.6(ANKRD11):c.977del (p.Gly326fs)
|
rs1555529979
|
|
|
NM_013275.6:c.(?_-462)_(-145+1_-144-1)del
|
|
|
|
NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu)
|
rs755804651
|
|
|
NM_013336.4(SEC61A1):c.706C>T (p.Arg236Cys)
|
rs2107647591
|
|
|
NM_013338.5(ALG5):c.115C>T (p.Arg39Ter)
|
|
|
|
NM_013338.5(ALG5):c.239-2A>G
|
|
|
|
NM_013338.5(ALG5):c.672G>A (p.Trp224Ter)
|
|
|
|
NM_013447.4(ADGRE2):c.1276C>T (p.Gln426Ter)
|
|
|
|
NM_014112.5(TRPS1):c.1043G>T (p.Cys348Phe)
|
rs1554596418
|
|
|
NM_014112.5(TRPS1):c.1464_1474del (p.Ser489fs)
|
rs1817986949
|
|
|
NM_014112.5(TRPS1):c.1817C>T (p.Ser606Phe)
|
rs1817974591
|
|
|
NM_014112.5(TRPS1):c.1919_2096+2929del
|
|
|
|
NM_014112.5(TRPS1):c.2096+1G>A
|
|
|
|
NM_014112.5(TRPS1):c.2097-2A>C
|
|
|
|
NM_014112.5(TRPS1):c.2700+1G>C
|
|
|
|
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser)
|
rs1554617580
|
|
|
NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro)
|
rs1554617573
|
|
|
NM_014112.5(TRPS1):c.2798G>A (p.Cys933Tyr)
|
rs1812971156
|
|
|
NM_014112.5(TRPS1):c.2890A>G (p.Lys964Glu)
|
rs2129751692
|
|
|
NM_014112.5(TRPS1):c.3062del (p.Gly1021fs)
|
rs1812876043
|
|
|
NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr)
|
rs1586249260
|
|
|
NM_014112.5(TRPS1):c.3737A>T (p.His1246Leu)
|
|
|
|
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter)
|
rs2130531352
|
|
|
NM_014112.5(TRPS1):c.782_785dup (p.Leu263fs)
|
|
|
|
NM_014112.5(TRPS1):c.94C>T (p.Gln32Ter)
|
rs1818358114
|
|
|
NM_014112.5(TRPS1):c.967-1G>T
|
rs2130494791
|
|
|
NM_014225.6(PPP2R1A):c.1493G>T (p.Arg498Leu)
|
|
|
|
NM_014225.6(PPP2R1A):c.275C>T (p.Pro92Leu)
|
rs950558629
|
|
|
NM_014225.6(PPP2R1A):c.352G>A (p.Glu118Lys)
|
rs2089667956
|
|
|
NM_014225.6(PPP2R1A):c.400C>T (p.Arg134Trp)
|
|
|
|
NM_014225.6(PPP2R1A):c.430C>T (p.Arg144Cys)
|
rs2122329969
|
|
|
NM_014225.6(PPP2R1A):c.532A>G (p.Thr178Ala)
|
|
|
|
NM_014225.6(PPP2R1A):c.536C>A (p.Pro179His)
|
rs786205228
|
|
|
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp)
|
rs786205227
|
|
|
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp)
|
rs1057519946
|
|
|
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)
|
rs1057519947
|
|
|
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu)
|
rs1555791268
|
|
|
NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His)
|
rs863225094
|
|
|
NM_014225.6(PPP2R1A):c.96C>G (p.Ile32Met)
|
|
|
|
NM_014231.5(VAMP1):c.152dup (p.Asn51fs)
|
|
|
|
NM_014231.5(VAMP1):c.340del (p.Ile114fs)
|
rs746220436
|
|
|
NM_014365.3(HSPB8):c.413A>C (p.Asn138Thr)
|
rs1565929080
|
|
|
NM_014365.3(HSPB8):c.562del (p.Gln188fs)
|
rs1954727678
|
|
|
NM_014567.5(BCAR1):c.12+2T>C
|
rs1597262107
|
|
|
NM_014687.4(RUBCN):c.1553dup (p.Glu519fs)
|
|
|
|
NM_014727.3(KMT2B):c.286_287del (p.Gly96fs)
|
|
|
|
NM_014727.3(KMT2B):c.4202G>A (p.Trp1401Ter)
|
|
|
|
NM_014795.4(ZEB2):c.-69-2A>C
|
|
|
|
NM_014795.4(ZEB2):c.1168del (p.Ile390fs)
|
rs1553961747
|
|
|
NM_014795.4(ZEB2):c.1683_1689dup (p.Asp564fs)
|
rs1703278635
|
|
|
NM_014795.4(ZEB2):c.1884del (p.Phe628fs)
|
rs786204811
|
|
|
NM_014795.4(ZEB2):c.2180del (p.Leu727fs)
|
rs786204810
|
|
|
NM_014795.4(ZEB2):c.2273_2274del (p.Leu758fs)
|
|
|
|
NM_014795.4(ZEB2):c.2384del (p.Asn795fs)
|
rs2149876640
|
|
|
NM_014795.4(ZEB2):c.247dup (p.Glu83fs)
|
rs1553964145
|
|
|
NM_014795.4(ZEB2):c.2865C>G (p.Tyr955Ter)
|
rs2149876315
|
|
|
NM_014795.4(ZEB2):c.2866C>T (p.Gln956Ter)
|
|
|
|
NM_014795.4(ZEB2):c.2890G>T (p.Glu964Ter)
|
|
|
|
NM_014795.4(ZEB2):c.2932G>T (p.Asp978Tyr)
|
rs863224942
|
|
|
NM_014795.4(ZEB2):c.2973del (p.Lys992fs)
|
rs1703231315
|
|
|
NM_014795.4(ZEB2):c.3023T>G (p.Phe1008Cys)
|
rs1553961332
|
|
|
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter)
|
rs886041989
|
|
|
NM_014795.4(ZEB2):c.3067+2T>G
|
|
|
|
NM_014795.4(ZEB2):c.3095del (p.Cys1032fs)
|
rs1060500653
|
|
|
NM_014795.4(ZEB2):c.3118C>T (p.His1040Tyr)
|
rs1553960788
|
|
|
NM_014795.4(ZEB2):c.3119ACC[3] (p.His1041_Leu1042insHis)
|
|
|
|
NM_014795.4(ZEB2):c.3122A>G (p.His1041Arg)
|
rs1573708153
|
|
|
NM_014795.4(ZEB2):c.3133C>T (p.His1045Tyr)
|
rs1703135134
|
|
|
NM_014795.4(ZEB2):c.3146A>G (p.His1049Arg)
|
rs1114167349
|
|
|
NM_014795.4(ZEB2):c.3160C>G (p.Pro1054Ala)
|
|
|
|
NM_014795.4(ZEB2):c.3164A>G (p.Tyr1055Cys)
|
rs1135402759
|
|
|
NM_014795.4(ZEB2):c.3200C>A (p.Ser1067Ter)
|
rs1423851170
|
|
|
NM_014795.4(ZEB2):c.3208_3213del (p.Tyr1070_Ser1071del)
|
|
|
|
NM_014795.4(ZEB2):c.3214C>T (p.Gln1072Ter)
|
rs1703133912
|
|
|
NM_014795.4(ZEB2):c.3227dup (p.His1076fs)
|
|
|
|
NM_014795.4(ZEB2):c.329del (p.Pro110fs)
|
|
|
|
NM_014795.4(ZEB2):c.332-3C>G
|
|
|
|
NM_014795.4(ZEB2):c.441C>G (p.Tyr147Ter)
|
|
|
|
NM_014795.4(ZEB2):c.564del (p.Pro189fs)
|
|
|
|
NM_014795.4(ZEB2):c.639C>A (p.Cys213Ter)
|
rs1451961075
|
|
|
NM_014795.4(ZEB2):c.66del (p.Asn24fs)
|
rs2149935119
|
|
|
NM_014795.4(ZEB2):c.73+2T>C
|
rs398124282
|
|
|
NM_014795.4(ZEB2):c.808-632A>T
|
|
|
|
NM_014795.4(ZEB2):c.851G>A (p.Cys284Tyr)
|
rs1703306516
|
|
|
NM_014795.4(ZEB2):c.876dup (p.Tyr293fs)
|
rs2149877962
|
|
|
NM_014795.4(ZEB2):c.899A>G (p.His300Arg)
|
rs1573718595
|
|
|
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)
|
rs587784571
|
|
|
NM_014795.4(ZEB2):c.916+1G>T
|
rs2149877941
|
|
|
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp)
|
rs1703292916
|
|
|
NM_014795.4(ZEB2):c.950_951del (p.Lys317fs)
|
|
|
|
NM_014798.3(PLEKHM1):c.94C>T (p.Gln32Ter)
|
|
|
|
NM_014991.6(WDFY3):c.1670T>C (p.Leu557Pro)
|
rs1753844425
|
|
|
NM_014991.6(WDFY3):c.2785C>T (p.Arg929Ter)
|
|
|
|
NM_014991.6(WDFY3):c.290C>G (p.Ser97Ter)
|
|
|
|
NM_014991.6(WDFY3):c.5114_5115del (p.Lys1705fs)
|
rs2149390162
|
|
|
NM_014991.6(WDFY3):c.5825C>T (p.Ser1942Leu)
|
|
|
|
NM_014991.6(WDFY3):c.7156C>T (p.Arg2386Ter)
|
|
|
|
NM_014991.6(WDFY3):c.7304dup (p.Tyr2435Ter)
|
|
|
|
NM_014991.6(WDFY3):c.8287C>T (p.Arg2763Ter)
|
rs750764507
|
|
|
NM_014991.6(WDFY3):c.8693del (p.Leu2898fs)
|
|
|
|
NM_014991.6(WDFY3):c.8901+1G>A
|
|
|
|
NM_014991.6(WDFY3):c.9156G>A (p.Trp3052Ter)
|
|
|
|
NM_014991.6(WDFY3):c.9496C>T (p.Arg3166Ter)
|
rs866536893
|
|
|
NM_014991.6(WDFY3):c.957-2A>G
|
rs1754957238
|
|
|
NM_015015.3(KDM4B):c.1198_1222del (p.Ala399_Leu400insTer)
|
|
|
|
NM_015015.3(KDM4B):c.1217del (p.Gly406fs)
|
|
|
|
NM_015015.3(KDM4B):c.1316-1G>A
|
|
|
|
NM_015015.3(KDM4B):c.2343dup (p.Gly782fs)
|
|
|
|
NM_015015.3(KDM4B):c.2440_2441+1del
|
rs1231991589
|
|
|
NM_015015.3(KDM4B):c.2441+1G>A
|
rs746714213
|
|
|
NM_015015.3(KDM4B):c.2550+2T>C
|
|
|
|
NM_015015.3(KDM4B):c.2661_2677del (p.Val888fs)
|
|
|
|
NM_015015.3(KDM4B):c.288C>T (p.Gly96=)
|
rs1395918076
|
|
|
NM_015015.3(KDM4B):c.2935G>T (p.Glu979Ter)
|
|
|
|
NM_015015.3(KDM4B):c.994_998del (p.Leu332fs)
|
|
|
|
NM_015021.3(ZNF292):c.2038_2041del (p.Glu680fs)
|
|
|
|
NM_015021.3(ZNF292):c.2404C>T (p.Gln802Ter)
|
|
|
|
NM_015021.3(ZNF292):c.3319C>T (p.Arg1107Ter)
|
rs2127862686
|
|
|
NM_015021.3(ZNF292):c.3460_3463del (p.Val1154fs)
|
rs1775264625
|
|
|
NM_015021.3(ZNF292):c.3491C>G (p.Ser1164Ter)
|
|
|
|
NM_015021.3(ZNF292):c.3862dup (p.Ser1288fs)
|
rs2127864363
|
|
|
NM_015021.3(ZNF292):c.3914_3917del (p.Thr1305fs)
|
|
|
|
NM_015021.3(ZNF292):c.4189C>T (p.Arg1397Ter)
|
|
|
|
NM_015021.3(ZNF292):c.4196_4197insAA (p.Tyr1399Ter)
|
|
|
|
NM_015021.3(ZNF292):c.467_468del (p.Gln156fs)
|
|
|
|
NM_015021.3(ZNF292):c.4862del (p.Asn1621fs)
|
rs2127867444
|
|
|
NM_015021.3(ZNF292):c.4973_4974del (p.Ile1658fs)
|
|
|
|
NM_015021.3(ZNF292):c.5367_5370del (p.Asn1790fs)
|
|
|
|
NM_015021.3(ZNF292):c.5650C>T (p.Gln1884Ter)
|
|
|
|
NM_015021.3(ZNF292):c.5906_5909del (p.Gln1969fs)
|
rs2127870787
|
|
|
NM_015021.3(ZNF292):c.5998_6008del (p.Ser2000fs)
|
rs2127871067
|
|
|
NM_015021.3(ZNF292):c.6015dup (p.Lys2006fs)
|
rs2127871142
|
|
|
NM_015021.3(ZNF292):c.6145del (p.Ser2049fs)
|
|
|
|
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs)
|
rs1301328139
|
|
|
NM_015021.3(ZNF292):c.61G>C (p.Glu21Gln)
|
|
|
|
NM_015021.3(ZNF292):c.6489_6490del (p.Glu2164fs)
|
|
|
|
NM_015021.3(ZNF292):c.814G>A (p.Ala272Thr)
|
|
|
|
NM_015021.3(ZNF292):c.870C>A (p.Tyr290Ter)
|
rs867732475
|
|
|
NM_015100.4(POGZ):c.1135C>T (p.Arg379Ter)
|
rs1657533128
|
|
|
NM_015100.4(POGZ):c.1215_1216dup (p.Lys406fs)
|
|
|
|
NM_015100.4(POGZ):c.1417T>C (p.Tyr473His)
|
|
|
|
NM_015100.4(POGZ):c.1524-3C>G
|
rs367963956
|
|
|
NM_015100.4(POGZ):c.1607dup (p.Tyr536Ter)
|
|
|
|
NM_015100.4(POGZ):c.1679-3C>G
|
rs376091120
|
|
|
NM_015100.4(POGZ):c.1727T>C (p.Leu576Pro)
|
rs1057519392
|
|
|
NM_015100.4(POGZ):c.1748A>G (p.His583Arg)
|
rs1131692270
|
|
|
NM_015100.4(POGZ):c.1863C>A (p.Cys621Ter)
|
|
|
|
NM_015100.4(POGZ):c.1A>G (p.Met1Val)
|
rs2102371063
|
|
|
NM_015100.4(POGZ):c.2324_2325insTT (p.Arg777fs)
|
rs2102164714
|
|
|
NM_015100.4(POGZ):c.2433-1G>C
|
|
|
|
NM_015100.4(POGZ):c.2508del (p.Phe836fs)
|
|
|
|
NM_015100.4(POGZ):c.2520_2521del (p.His840fs)
|
rs886042027
|
|
|
NM_015100.4(POGZ):c.2545+1del
|
rs1571332089
|
|
|
NM_015100.4(POGZ):c.2545+2del
|
rs2102155019
|
|
|
NM_015100.4(POGZ):c.2569A>G (p.Arg857Gly)
|
rs2102152736
|
|
|
NM_015100.4(POGZ):c.2590C>T (p.Arg864Ter)
|
rs756659230
|
|
|
NM_015100.4(POGZ):c.2604del (p.Asn869fs)
|
rs1553213126
|
|
|
NM_015100.4(POGZ):c.2729C>G (p.Ser910Ter)
|
|
|
|
NM_015100.4(POGZ):c.2729del (p.Ser910fs)
|
|
|
|
NM_015100.4(POGZ):c.2771dup (p.Gln925fs)
|
|
|
|
NM_015100.4(POGZ):c.2836del (p.Asp946fs)
|
rs1571326296
|
|
|
NM_015100.4(POGZ):c.2849dup (p.Val951fs)
|
rs1653560615
|
|
|
NM_015100.4(POGZ):c.2914C>T (p.Gln972Ter)
|
rs1557866540
|
|
|
NM_015100.4(POGZ):c.2942_2945dup (p.Phe983fs)
|
|
|
|
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter)
|
rs1553212545
|
|
|
NM_015100.4(POGZ):c.3041del (p.Gln1014fs)
|
rs796052217
|
|
|
NM_015100.4(POGZ):c.3046del (p.Glu1016fs)
|
|
|
|
NM_015100.4(POGZ):c.3124C>T (p.Gln1042Ter)
|
|
|
|
NM_015100.4(POGZ):c.3179_3180del (p.Ser1060fs)
|
rs1653497680
|
|
|
NM_015100.4(POGZ):c.3206_3207del (p.Ser1068_Tyr1069insTer)
|
rs1553212374
|
|
|
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter)
|
rs879255404
|
|
|
NM_015100.4(POGZ):c.3351del (p.Leu1117fs)
|
|
|
|
NM_015100.4(POGZ):c.3361_3362del (p.Met1121fs)
|
rs2102145038
|
|
|
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter)
|
rs773311942
|
|
|
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)
|
rs869320764
|
|
|
NM_015100.4(POGZ):c.3801C>A (p.Cys1267Ter)
|
|
|
|
NM_015100.4(POGZ):c.3843_3846del (p.Lys1281fs)
|
|
|
|
NM_015100.4(POGZ):c.62del (p.Ile21fs)
|
rs1660633733
|
|
|
NM_015100.4(POGZ):c.64del (p.Ser22fs)
|
rs2102370816
|
|
|
NM_015100.4(POGZ):c.692del (p.Ile231fs)
|
rs1658105150
|
|
|
NM_015100.4(POGZ):c.7del (p.Asp3fs)
|
|
|
|
NM_015125.5(CIC):c.3617del (p.Gln1206fs)
|
rs2147320674
|
|
|
NM_015205.3(ATP11A):c.3044_3045del (p.Thr1015fs)
|
|
|
|
NM_015215.4(CAMTA1):c.1521_1528del (p.Met507fs)
|
|
|
|
NM_015215.4(CAMTA1):c.2235C>A (p.Tyr745Ter)
|
|
|
|
NM_015215.4(CAMTA1):c.2452G>T (p.Glu818Ter)
|
|
|
|
NM_015215.4(CAMTA1):c.2460C>A (p.Cys820Ter)
|
|
|
|
NM_015215.4(CAMTA1):c.2685G>A (p.Trp895Ter)
|
rs2149221667
|
|
|
NM_015215.4(CAMTA1):c.2863C>T (p.Arg955Trp)
|
rs1135401818
|
|
|
NM_015215.4(CAMTA1):c.3230A>G (p.Tyr1077Cys)
|
rs863224853
|
|
|
NM_015215.4(CAMTA1):c.4231C>T (p.Arg1411Ter)
|
rs886041635
|
|
|
NM_015215.4(CAMTA1):c.4363C>T (p.Gln1455Ter)
|
|
|
|
NM_015215.4(CAMTA1):c.4371-2A>C
|
|
|
|
NM_015215.4(CAMTA1):c.438+1G>A
|
|
|
|
NM_015215.4(CAMTA1):c.4418G>A (p.Ser1473Asn)
|
rs776553769
|
|
|
NM_015215.4(CAMTA1):c.4618-1G>A
|
|
|
|
NM_015215.4(CAMTA1):c.4674C>G (p.Tyr1558Ter)
|
rs2096866859
|
|
|
NM_015215.4(CAMTA1):c.4690-2A>G
|
|
|
|
NM_015215.4(CAMTA1):c.4744C>T (p.Arg1582Ter)
|
rs2150160606
|
|
|
NM_015215.4(CAMTA1):c.4759C>T (p.Gln1587Ter)
|
rs2150160765
|
|
|
NM_015215.4(CAMTA1):c.4780C>T (p.Arg1594Ter)
|
rs1553280067
|
|
|
NM_015215.4(CAMTA1):c.800del (p.Ser267fs)
|
rs1553238311
|
|
|
NM_015215.4(CAMTA1):c.838_839del (p.Ser280fs)
|
|
|
|
NM_015335.5(MED13L):c.1218dup (p.Ser407Ter)
|
rs2137404791
|
|
|
NM_015335.5(MED13L):c.1338_1341dup (p.Gly448fs)
|
rs1555248025
|
|
|
NM_015335.5(MED13L):c.2013-1G>T
|
|
|
|
NM_015335.5(MED13L):c.2032_2035del (p.Lys678fs)
|
|
|
|
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter)
|
rs1592940794
|
|
|
NM_015335.5(MED13L):c.2239-11T>G
|
rs2137373566
|
|
|
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly)
|
rs1555246154
|
|
|
NM_015335.5(MED13L):c.2593T>C (p.Phe865Leu)
|
|
|
|
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu)
|
rs1555246145
|
|
|
NM_015335.5(MED13L):c.2600C>T (p.Thr867Ile)
|
rs1555246143
|
|
|
NM_015335.5(MED13L):c.2606C>T (p.Pro869Leu)
|
|
|
|
NM_015335.5(MED13L):c.2996+1G>A
|
rs1878413465
|
|
|
NM_015335.5(MED13L):c.3034del (p.Tyr1012fs)
|
|
|
|
NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs)
|
rs1878068615
|
|
|
NM_015335.5(MED13L):c.3346_3347dup (p.Asp1117fs)
|
rs2137306954
|
|
|
NM_015335.5(MED13L):c.3380del (p.Asn1127fs)
|
rs2137306817
|
|
|
NM_015335.5(MED13L):c.338G>T (p.Gly113Val)
|
|
|
|
NM_015335.5(MED13L):c.3396C>A (p.Cys1132Ter)
|
|
|
|
NM_015335.5(MED13L):c.347A>G (p.Tyr116Cys)
|
|
|
|
NM_015335.5(MED13L):c.3482C>T (p.Thr1161Ile)
|
rs1592923871
|
|
|
NM_015335.5(MED13L):c.3627_3630del (p.Pro1210fs)
|
|
|
|
NM_015335.5(MED13L):c.3942_3943del (p.Ile1315fs)
|
rs1555244212
|
|
|
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys)
|
rs2137290227
|
|
|
NM_015335.5(MED13L):c.4136C>T (p.Pro1379Leu)
|
|
|
|
NM_015335.5(MED13L):c.4353del (p.Gln1452fs)
|
rs2137278830
|
|
|
NM_015335.5(MED13L):c.4456C>T (p.Gln1486Ter)
|
rs1555243580
|
|
|
NM_015335.5(MED13L):c.4792C>T (p.Gln1598Ter)
|
rs2137274539
|
|
|
NM_015335.5(MED13L):c.5039A>G (p.Tyr1680Cys)
|
|
|
|
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs)
|
rs1877279397
|
|
|
NM_015335.5(MED13L):c.5364+1G>T
|
|
|
|
NM_015335.5(MED13L):c.5461C>T (p.Gln1821Ter)
|
|
|
|
NM_015335.5(MED13L):c.5586del (p.Asn1862fs)
|
|
|
|
NM_015335.5(MED13L):c.5588+1G>A
|
rs1135401810
|
|
|
NM_015335.5(MED13L):c.5626_5633del (p.Leu1876fs)
|
rs1876855942
|
|
|
NM_015335.5(MED13L):c.5695G>A (p.Gly1899Arg)
|
rs2137241977
|
|
|
NM_015335.5(MED13L):c.5722G>C (p.Glu1908Gln)
|
|
|
|
NM_015335.5(MED13L):c.5965C>T (p.Gln1989Ter)
|
rs1555241166
|
|
|
NM_015335.5(MED13L):c.6488C>T (p.Ser2163Leu)
|
rs1565981137
|
|
|
NM_015335.5(MED13L):c.6501-2del
|
|
|
|
NM_015335.5(MED13L):c.6556C>T (p.Gln2186Ter)
|
rs1555239555
|
|
|
NM_015335.5(MED13L):c.745A>T (p.Lys249Ter)
|
rs1879951118
|
|
|
NM_015335.5(MED13L):c.758del (p.Glu252_Ser253insTer)
|
|
|
|
NM_015335.5(MED13L):c.82dup (p.Thr28fs)
|
rs1870221353
|
|
|
NM_015335.5(MED13L):c.889_890del (p.Ser297fs)
|
|
|
|
NM_015338.6(ASXL1):c.1281dup (p.Gln428fs)
|
rs886042532
|
|
|
NM_015338.6(ASXL1):c.1567A>T (p.Lys523Ter)
|
rs2123267182
|
|
|
NM_015338.6(ASXL1):c.1621dup (p.Arg541fs)
|
|
|
|
NM_015338.6(ASXL1):c.1751dup (p.Val585fs)
|
rs748946310
|
|
|
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs)
|
rs766433101
|
|
|
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)
|
rs750318549
|
|
|
NM_015338.6(ASXL1):c.2324del (p.Arg774_Leu775insTer)
|
rs765327792
|
|
|
NM_015338.6(ASXL1):c.2558del (p.Pro853fs)
|
|
|
|
NM_015338.6(ASXL1):c.3125dup (p.Leu1043fs)
|
|
|
|
NM_015338.6(ASXL1):c.3637del (p.Leu1213fs)
|
rs1569337176
|
|
|
NM_015338.6(ASXL1):c.3677_3678del (p.Leu1226fs)
|
|
|
|
NM_015338.6(ASXL1):c.3747_3748del (p.Met1249fs)
|
|
|
|
NM_015338.6(ASXL1):c.3769del (p.Ala1257fs)
|
rs1600592990
|
|
|
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs)
|
rs1555912897
|
|
|
NM_015338.6(ASXL1):c.658C>T (p.Gln220Ter)
|
rs2011469981
|
|
|
NM_015338.6(ASXL1):c.69del (p.Tyr24fs)
|
rs2048205050
|
|
|
NM_015378.4(VPS13D):c.12416C>T (p.Ala4139Val)
|
rs868354311
|
|
|
NM_015386.3(COG4):c.1002+1G>T
|
|
|
|
NM_015386.3(COG4):c.1290C>A (p.Tyr430Ter)
|
|
|
|
NM_015386.3(COG4):c.2006C>T (p.Ala669Val)
|
|
|
|
NM_015386.3(COG4):c.433G>T (p.Gly145Ter)
|
|
|
|
NM_015386.3(COG4):c.73G>T (p.Gly25Ter)
|
rs1249789100
|
|
|
NM_015404.4(WHRN):c.2388_2389del (p.Asn796fs)
|
rs1564113368
|
|
|
NM_015506.2(MMACHC):c.[271dupA];[482G>A]
|
|
|
|
NM_015559.3(SETBP1):c.1414_1417del (p.Glu472fs)
|
|
|
|
NM_015559.3(SETBP1):c.1677_1686dup (p.Pro563fs)
|
rs2071336349
|
|
|
NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter)
|
rs1568235086
|
|
|
NM_015559.3(SETBP1):c.1955_1956dup (p.Gly653fs)
|
|
|
|
NM_015559.3(SETBP1):c.2338del (p.Ser780fs)
|
|
|
|
NM_015559.3(SETBP1):c.239G>A (p.Trp80Ter)
|
|
|
|
NM_015559.3(SETBP1):c.2425C>T (p.Gln809Ter)
|
rs1599368323
|
|
|
NM_015559.3(SETBP1):c.2561C>A (p.Ser854Tyr)
|
rs2071362354
|
|
|
NM_015559.3(SETBP1):c.2561C>T (p.Ser854Phe)
|
rs2071362354
|
|
|
NM_015559.3(SETBP1):c.2563C>A (p.Pro855Thr)
|
rs2145105580
|
|
|
NM_015559.3(SETBP1):c.2564C>T (p.Pro855Leu)
|
|
|
|
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys)
|
rs1178702025
|
|
|
NM_015559.3(SETBP1):c.2601C>A (p.Ser867Arg)
|
|
|
|
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His)
|
rs267607042
|
|
|
NM_015559.3(SETBP1):c.265C>T (p.Gln89Ter)
|
rs1568097623
|
|
|
NM_015559.3(SETBP1):c.2879T>G (p.Leu960Arg)
|
rs2145108363
|
|
|
NM_015559.3(SETBP1):c.2982C>G (p.Tyr994Ter)
|
rs2071377438
|
|
|
NM_015559.3(SETBP1):c.2984C>T (p.Pro995Leu)
|
|
|
|
NM_015559.3(SETBP1):c.3725G>A (p.Trp1242Ter)
|
|
|
|
NM_015559.3(SETBP1):c.3802G>T (p.Gly1268Trp)
|
|
|
|
NM_015559.3(SETBP1):c.3909T>A (p.Tyr1303Ter)
|
|
|
|
NM_015559.3(SETBP1):c.4273A>T (p.Lys1425Ter)
|
rs2145592791
|
|
|
NM_015559.3(SETBP1):c.4328C>G (p.Ser1443Ter)
|
|
|
|
NM_015559.3(SETBP1):c.4790_*9del (p.Ter1597TrpextTer?)
|
rs2073929830
|
|
|
NM_015570.4(AUTS2):c.1018C>T (p.Gln340Ter)
|
rs2129556993
|
|
|
NM_015570.4(AUTS2):c.1214+1G>T
|
|
|
|
NM_015570.4(AUTS2):c.1486dup (p.Gln496fs)
|
rs869312878
|
|
|
NM_015570.4(AUTS2):c.1557C>A (p.Tyr519Ter)
|
|
|
|
NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro)
|
rs1563183469
|
|
|
NM_015570.4(AUTS2):c.1603C>T (p.His535Tyr)
|
rs1563183492
|
|
|
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])
|
rs1789934246
|
|
|
NM_015570.4(AUTS2):c.1604A>C (p.His535Pro)
|
rs1585653240
|
|
|
NM_015570.4(AUTS2):c.1606C>T (p.Gln536Ter)
|
|
|
|
NM_015570.4(AUTS2):c.1611C>A (p.His537Gln)
|
rs1383001370
|
|
|
NM_015570.4(AUTS2):c.1647dup (p.Ile550fs)
|
|
|
|
NM_015570.4(AUTS2):c.1775del (p.Pro592fs)
|
|
|
|
NM_015570.4(AUTS2):c.2005-1G>C
|
|
|
|
NM_015570.4(AUTS2):c.205del (p.Arg69fs)
|
|
|
|
NM_015570.4(AUTS2):c.2224+1G>T
|
|
|
|
NM_015570.4(AUTS2):c.2481_2484dup (p.Asp829Ter)
|
|
|
|
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)
|
rs1562957809
|
|
|
NM_015570.4(AUTS2):c.454C>T (p.Arg152Ter)
|
|
|
|
NM_015570.4(AUTS2):c.478C>T (p.Gln160Ter)
|
rs2129540473
|
|
|
NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter)
|
rs1585645384
|
|
|
NM_015570.4(AUTS2):c.901C>T (p.Gln301Ter)
|
rs1585645641
|
|
|
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter)
|
rs1554480537
|
|
|
NM_015713.5(RRM2B):c.121C>T (p.Arg41Trp)
|
rs515726181
|
|
|
NM_015713.5(RRM2B):c.122G>C (p.Arg41Pro)
|
rs200273673
|
|
|
NM_015713.5(RRM2B):c.168T>A (p.Tyr56Ter)
|
|
|
|
NM_015713.5(RRM2B):c.40C>T (p.Gln14Ter)
|
|
|
|
NM_015713.5(RRM2B):c.455+1G>A
|
rs2132555188
|
|
|
NM_015713.5(RRM2B):c.520C>T (p.Arg174Ter)
|
rs863224191
|
|
|
NM_015972.4(POLR1D):c.60dup (p.Gly21fs)
|
|
|
|
NM_015972.4(POLR1D):c.89_117del (p.Val30fs)
|
|
|
|
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)
|
|
|
|
NM_015981.4(CAMK2A):c.329C>T (p.Ala110Val)
|
rs779607303
|
|
|
NM_015981.4(CAMK2A):c.415G>C (p.Glu139Gln)
|
|
|
|
NM_015981.4(CAMK2A):c.49G>A (p.Glu17Lys)
|
|
|
|
NM_015981.4(CAMK2A):c.524G>C (p.Gly175Ala)
|
rs2150280830
|
|
|
NM_015981.4(CAMK2A):c.59G>A (p.Gly20Asp)
|
rs2150315525
|
|
|
NM_015981.4(CAMK2A):c.704C>T (p.Pro235Leu)
|
rs864309606
|
|
|
NM_015981.4(CAMK2A):c.755T>C (p.Leu252Pro)
|
|
|
|
NM_015981.4(CAMK2A):c.775C>T (p.Arg259Cys)
|
|
|
|
NM_015981.4(CAMK2A):c.785_790del (p.Ala262_Ala263del)
|
rs2150279502
|
|
|
NM_015981.4(CAMK2A):c.82C>T (p.Arg28Ter)
|
|
|
|
NM_015981.4(CAMK2A):c.884C>A (p.Ala295Asp)
|
|
|
|
NM_016169.4(SUFU):c.1022dup (p.Ser342fs)
|
rs2135889249
|
|
|
NM_016169.4(SUFU):c.1023-2A>T
|
rs1060501105
|
|
|
NM_016169.4(SUFU):c.1157+1G>A
|
|
|
|
NM_016169.4(SUFU):c.1296+1635C>A
|
rs975490066
|
|
|
NM_016169.4(SUFU):c.1365+1G>A
|
rs2063794106
|
|
|
NM_016169.4(SUFU):c.1365+2T>G
|
|
|
|
NM_016169.4(SUFU):c.182+1G>A
|
rs2135598885
|
|
|
NM_016169.4(SUFU):c.182+3A>C
|
rs1589970228
|
|
|
NM_016169.4(SUFU):c.183-1G>A
|
rs1554841447
|
|
|
NM_016169.4(SUFU):c.183-1G>T
|
|
|
|
NM_016169.4(SUFU):c.183-2A>C
|
rs2135619894
|
|
|
NM_016169.4(SUFU):c.183-4_247del
|
|
|
|
NM_016169.4(SUFU):c.317+1G>A
|
rs2135621012
|
|
|
NM_016169.4(SUFU):c.318-1G>C
|
rs2135742927
|
|
|
NM_016169.4(SUFU):c.597+1G>C
|
rs1590062006
|
|
|
NM_016169.4(SUFU):c.683+1G>A
|
rs2135870923
|
|
|
NM_016169.4(SUFU):c.684-2A>G
|
rs1590063305
|
|
|
NM_016169.4(SUFU):c.911-1G>T
|
|
|
|
NM_016169.4(SUFU):c.911-2A>C
|
|
|
|
NM_016169.4(SUFU):c.946_952del (p.Leu316fs)
|
|
|
|
NM_016204.4(GDF2):c.1267G>A (p.Val423Met)
|
rs1358534877
|
|
|
NM_016204.4(GDF2):c.203G>T (p.Arg68Leu)
|
rs200330818
|
|
|
NM_016239.4(MYO15A):c.2456C>A (p.Ser819Ter)
|
rs767378045
|
|
|
NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter)
|
rs779077039
|
|
|
NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter)
|
rs1209665716
|
|
|
NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter)
|
rs1567641234
|
|
|
NM_016239.4(MYO15A):c.8224+3A>G
|
rs1057519605
|
|
|
NM_016239.4(MYO15A):c.9303+5G>A
|
rs1555547215
|
|
|
NM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg)
|
rs1553849919
|
|
|
NM_016306.6(DNAJB11):c.230T>C (p.Leu77Pro)
|
rs1553850185
|
|
|
NM_016306.6(DNAJB11):c.266dup (p.Tyr89Ter)
|
|
|
|
NM_016306.6(DNAJB11):c.324-1G>T
|
|
|
|
NM_016306.6(DNAJB11):c.544_550del (p.Pro182fs)
|
|
|
|
NM_016306.6(DNAJB11):c.635_636del (p.Ile212fs)
|
|
|
|
NM_016306.6(DNAJB11):c.763_767del (p.Arg254_Gly255insTer)
|
|
|
|
NM_016333.4(SRRM2):c.1181dup (p.Ser395fs)
|
|
|
|
NM_016333.4(SRRM2):c.1534C>T (p.Gln512Ter)
|
|
|
|
NM_016333.4(SRRM2):c.1585C>T (p.Gln529Ter)
|
|
|
|
NM_016333.4(SRRM2):c.205C>T (p.Arg69Ter)
|
|
|
|
NM_016929.5(CLIC5):c.644G>A (p.Trp215Ter)
|
rs1043716893
|
|
|
NM_017635.5(KMT5B):c.2347C>T (p.Arg783Ter)
|
|
|
|
NM_017635.5(KMT5B):c.2422_2425del (p.Leu808fs)
|
rs2153039957
|
|
|
NM_017635.5(KMT5B):c.431_432del (p.Arg143_Phe144insTer)
|
rs1856229182
|
|
|
NM_017635.5(KMT5B):c.485G>A (p.Trp162Ter)
|
|
|
|
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter)
|
rs114727354
|
|
|
NM_017635.5(KMT5B):c.634dup (p.Ile212fs)
|
|
|
|
NM_017635.5(KMT5B):c.712GAG[1] (p.Glu239del)
|
|
|
|
NM_017635.5(KMT5B):c.787C>T (p.Leu263Phe)
|
rs2153052371
|
|
|
NM_017635.5(KMT5B):c.840+1_840+5del
|
rs2153052061
|
|
|
NM_017635.5(KMT5B):c.904G>A (p.Glu302Lys)
|
|
|
|
NM_017635.5(KMT5B):c.914G>A (p.Cys305Tyr)
|
|
|
|
NM_017635.5(KMT5B):c.972C>G (p.Cys324Trp)
|
|
|
|
NM_017644.3(KLHL24):c.1161G>A (p.Trp387Ter)
|
|
|
|
NM_017644.3(KLHL24):c.661C>T (p.Leu221Phe)
|
|
|
|
NM_018026.4(PACS1):c.298C>T (p.Gln100Ter)
|
|
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
|
NM_018489.3(ASH1L):c.1907C>G (p.Ser636Ter)
|
rs1198775988
|
|
|
NM_018489.3(ASH1L):c.1948del (p.Gly651fs)
|
|
|
|
NM_018489.3(ASH1L):c.2126dup (p.Leu709fs)
|
rs2148727707
|
|
|
NM_018489.3(ASH1L):c.2134dup (p.Arg712fs)
|
rs1558150870
|
|
|
NM_018489.3(ASH1L):c.3222_3223dup (p.Gln1075fs)
|
|
|
|
NM_018489.3(ASH1L):c.326G>A (p.Arg109Gln)
|
|
|
|
NM_018489.3(ASH1L):c.3838C>T (p.Arg1280Ter)
|
rs1553265154
|
|
|
NM_018489.3(ASH1L):c.3976dup (p.Ser1326fs)
|
rs2148721714
|
|
|
NM_018489.3(ASH1L):c.4065_4072del (p.Met1356fs)
|
rs2148721365
|
|
|
NM_018489.3(ASH1L):c.4289G>T (p.Gly1430Val)
|
|
|
|
NM_018489.3(ASH1L):c.4584T>G (p.Tyr1528Ter)
|
|
|
|
NM_018489.3(ASH1L):c.4651_4654del (p.Asn1551fs)
|
rs1553264873
|
|
|
NM_018489.3(ASH1L):c.4739C>G (p.Ser1580Ter)
|
|
|
|
NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs)
|
rs1665684529
|
|
|
NM_018489.3(ASH1L):c.5575C>T (p.Gln1859Ter)
|
|
|
|
NM_018489.3(ASH1L):c.6019C>T (p.Arg2007Ter)
|
|
|
|
NM_018489.3(ASH1L):c.6129dup (p.Asp2044Ter)
|
rs2148443341
|
|
|
NM_018489.3(ASH1L):c.7804G>T (p.Val2602Leu)
|
|
|
|
NM_018489.3(ASH1L):c.7957C>T (p.Arg2653Ter)
|
|
|
|
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)
|
rs121434591
|
|
|
NM_018896.5(CACNA1G):c.2549C>T (p.Ala850Val)
|
|
|
|
NM_018896.5(CACNA1G):c.2810C>T (p.Ser937Leu)
|
rs1250995341
|
|
|
NM_018896.5(CACNA1G):c.3787T>G (p.Ser1263Ala)
|
|
|
|
NM_018896.5(CACNA1G):c.3792G>T (p.Arg1264Ser)
|
rs200024646
|
|
|
NM_018896.5(CACNA1G):c.3835G>A (p.Asp1279Asn)
|
rs2145795264
|
|
|
NM_018896.5(CACNA1G):c.4180C>T (p.Arg1394Trp)
|
|
|
|
NM_018896.5(CACNA1G):c.4591A>T (p.Met1531Leu)
|
|
|
|
NM_018896.5(CACNA1G):c.4592T>C (p.Met1531Thr)
|
|
|
|
NM_018896.5(CACNA1G):c.4593G>A (p.Met1531Ile)
|
|
|
|
NM_018896.5(CACNA1G):c.4594T>C (p.Phe1532Leu)
|
rs2145968180
|
|
|
NM_018896.5(CACNA1G):c.4931A>T (p.Lys1644Met)
|
|
|
|
NM_018896.5(CACNA1G):c.5543C>G (p.Ala1848Gly)
|
|
|
|
NM_018896.5(CACNA1G):c.5960_5961delinsAC (p.Thr1987Asn)
|
rs2146373286
|
|
|
NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro)
|
rs2039524843
|
|
|
NM_018896.5(CACNA1G):c.6394C>T (p.Arg2132Cys)
|
|
|
|
NM_019014.6(POLR1B):c.490G>T (p.Glu164Ter)
|
|
|
|
NM_019842.4(KCNQ5):c.1040G>C (p.Gly347Ala)
|
rs1775232605
|
|
|
NM_019842.4(KCNQ5):c.1076G>A (p.Arg359His)
|
|
|
|
NM_019842.4(KCNQ5):c.1291A>T (p.Arg431Trp)
|
rs1776322078
|
|
|
NM_019842.4(KCNQ5):c.1408C>T (p.Arg470Ter)
|
|
|
|
NM_019842.4(KCNQ5):c.1667G>C (p.Gly556Ala)
|
|
|
|
NM_019842.4(KCNQ5):c.273del (p.Lys92fs)
|
|
|
|
NM_019842.4(KCNQ5):c.532C>T (p.Arg178Ter)
|
rs1554201137
|
|
|
NM_019842.4(KCNQ5):c.545C>T (p.Ala182Val)
|
|
|
|
NM_019842.4(KCNQ5):c.875A>G (p.Asn292Ser)
|
|
|
|
NM_020436.5(SALL4):c.131-2A>G
|
rs2122967143
|
|
|
NM_020436.5(SALL4):c.1975_1988del (p.Leu658_Pro659insTer)
|
|
|
|
NM_020436.5(SALL4):c.2573_2577delinsG (p.Leu858fs)
|
|
|
|
NM_020436.5(SALL4):c.3058del (p.Gln1020fs)
|
|
|
|
NM_020436.5(SALL4):c.383del (p.Gly128fs)
|
rs2122966358
|
|
|
NM_020638.3(FGF23):c.162G>C (p.Gln54His)
|
rs193922701
|
|
|
NM_020638.3(FGF23):c.211+1G>A
|
|
|
|
NM_020638.3(FGF23):c.515_529del (p.Pro172_Arg176del)
|
|
|
|
NM_020699.4(GATAD2B):c.1077_1089del (p.Gln359fs)
|
|
|
|
NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs)
|
rs1674480467
|
|
|
NM_020699.4(GATAD2B):c.1200dup (p.Val401fs)
|
|
|
|
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln)
|
rs1057521041
|
|
|
NM_020699.4(GATAD2B):c.1405del (p.Leu469fs)
|
|
|
|
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter)
|
rs761820222
|
|
|
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter)
|
rs1674313030
|
|
|
NM_020699.4(GATAD2B):c.1441C>T (p.Gln481Ter)
|
|
|
|
NM_020699.4(GATAD2B):c.1446G>T (p.Gln482His)
|
rs1674312870
|
|
|
NM_020699.4(GATAD2B):c.1537C>T (p.Gln513Ter)
|
rs1553187362
|
|
|
NM_020699.4(GATAD2B):c.155del (p.Lys52fs)
|
|
|
|
NM_020699.4(GATAD2B):c.1780T>C (p.Ter594Gln)
|
rs1674245097
|
|
|
NM_020699.4(GATAD2B):c.343G>T (p.Glu115Ter)
|
|
|
|
NM_020699.4(GATAD2B):c.387del (p.Asp130fs)
|
rs756062872
|
|
|
NM_020699.4(GATAD2B):c.392dup (p.Asn131fs)
|
|
|
|
NM_020699.4(GATAD2B):c.420del (p.Arg141fs)
|
|
|
|
NM_020699.4(GATAD2B):c.597+1G>A
|
rs1570929867
|
|
|
NM_020699.4(GATAD2B):c.598-1G>A
|
rs1674549557
|
|
|
NM_020699.4(GATAD2B):c.614del (p.Asn205fs)
|
|
|
|
NM_020699.4(GATAD2B):c.676C>T (p.Pro226Ser)
|
|
|
|
NM_020699.4(GATAD2B):c.91C>T (p.Arg31Ter)
|
rs1570938113
|
|
|
NM_020699.4(GATAD2B):c.980_981del (p.Gly327fs)
|
rs797045594
|
|
|
NM_020738.4(KIDINS220):c.3991G>T (p.Glu1331Ter)
|
rs1664428695
|
|
|
NM_020738.4(KIDINS220):c.4138C>T (p.Gln1380Ter)
|
rs1553305080
|
|
|
NM_020738.4(KIDINS220):c.4213_4216dup (p.Ile1406fs)
|
|
|
|
NM_020738.4(KIDINS220):c.4388C>A (p.Ser1463Ter)
|
rs2147945457
|
|
|
NM_020738.4(KIDINS220):c.4417dup (p.Leu1473fs)
|
rs34141362
|
|
|
NM_020738.4(KIDINS220):c.856C>T (p.Arg286Ter)
|
|
|
|
NM_020738.4(KIDINS220):c.876T>G (p.Tyr292Ter)
|
|
|
|
NM_020937.4(FANCM):c.2201_2202dup (p.Glu735fs)
|
rs762570903
|
|
|
NM_020937.4(FANCM):c.2525_2528del (p.Gln842fs)
|
rs752136594
|
|
|
NM_020975.6(RET):c.1893_1898del (p.Asp631_Leu633delinsGlu)
|
rs121913307
|
|
|
NM_020975.6(RET):c.1947G>A (p.Ser649=)
|
rs377767412
|
|
|
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)
|
rs146646971
|
|
|
NM_020975.6(RET):c.1998delinsTTCT (p.Lys666delinsAsnSer)
|
rs377767440
|
|
|
NM_020975.6(RET):c.2304G>T (p.Glu768Asp)
|
rs78014899
|
|
|
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)
|
rs75030001
|
|
|
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe)
|
rs377767429
|
|
|
NM_020975.6(RET):c.2672C>T (p.Ser891Leu)
|
|
|
|
NM_020975.6(RET):c.2711C>T (p.Ser904Phe)
|
rs267607011
|
|
|
NM_020975.6(RET):c.2752A>G (p.Met918Val)
|
rs377767442
|
|
|
NM_020975.6(RET):c.2914A>G (p.Arg972Gly)
|
rs76534745
|
|
|
NM_020975.6(RET):c.3222dup (p.Val1075fs)
|
rs1838374810
|
|
|
NM_021008.4(DEAF1):c.34_35dup (p.Leu13fs)
|
rs1590028691
|
|
|
NM_021008.4(DEAF1):c.613G>C (p.Val205Leu)
|
rs893284652
|
|
|
NM_021008.4(DEAF1):c.620G>A (p.Cys207Tyr)
|
|
|
|
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser)
|
rs1057519565
|
|
|
NM_021008.4(DEAF1):c.664G>A (p.Gly222Ser)
|
|
|
|
NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp)
|
rs587777408
|
|
|
NM_021008.4(DEAF1):c.682A>T (p.Ile228Phe)
|
rs2133402700
|
|
|
NM_021008.4(DEAF1):c.700T>A (p.Trp234Arg)
|
rs1057524157
|
|
|
NM_021008.4(DEAF1):c.737G>C (p.Arg246Thr)
|
rs1554944271
|
|
|
NM_021008.4(DEAF1):c.748A>G (p.Lys250Glu)
|
rs2133402368
|
|
|
NM_021008.4(DEAF1):c.761G>C (p.Arg254Thr)
|
|
|
|
NM_021008.4(DEAF1):c.782G>C (p.Arg261Pro)
|
|
|
|
NM_021008.4(DEAF1):c.842G>C (p.Cys281Ser)
|
rs1860524875
|
|
|
NM_021008.4(DEAF1):c.880G>C (p.Val294Leu)
|
rs1590008294
|
|
|
NM_021008.4(DEAF1):c.910AAG[1] (p.Lys305del)
|
rs1554943158
|
|
|
NM_021008.4(DEAF1):c.926del (p.Leu309fs)
|
rs1417226023
|
|
|
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)
|
rs77975504
|
|
|
NM_021625.5(TRPV4):c.2012T>C (p.Leu671Pro)
|
|
|
|
NM_021625.5(TRPV4):c.856G>A (p.Glu286Lys)
|
|
|
|
NM_021629.4(GNB4):c.158G>A (p.Gly53Asp)
|
rs387907340
|
|
|
NM_021629.4(GNB4):c.169A>G (p.Lys57Glu)
|
rs1714910248
|
|
|
NM_021629.4(GNB4):c.227A>G (p.Asp76Gly)
|
rs1714805406
|
|
|
NM_021629.4(GNB4):c.659A>G (p.Gln220Arg)
|
rs199615251
|
|
|
NM_021815.5(SLC5A7):c.1503_1506del (p.Phe502fs)
|
|
|
|
NM_021815.5(SLC5A7):c.320G>A (p.Arg107His)
|
|
|
|
NM_021815.5(SLC5A7):c.742-2A>G
|
|
|
|
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)
|
rs28937887
|
|
|
NM_021830.5(TWNK):c.1003C>A (p.Pro335Thr)
|
rs1554887028
|
|
|
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)
|
rs758026634
|
|
|
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr)
|
rs111033573
|
|
|
NM_021830.5(TWNK):c.1111C>T (p.Arg371Trp)
|
|
|
|
NM_021830.5(TWNK):c.1399C>T (p.Gln467Ter)
|
|
|
|
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter)
|
rs111033574
|
|
|
NM_021830.5(TWNK):c.1433T>G (p.Phe478Cys)
|
rs2133939892
|
|
|
NM_021830.5(TWNK):c.649C>T (p.Arg217Ter)
|
rs1382829987
|
|
|
NM_021830.5(TWNK):c.718C>T (p.Arg240Ter)
|
|
|
|
NM_021830.5(TWNK):c.827C>T (p.Thr276Met)
|
|
|
|
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter)
|
rs397517323
|
|
|
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter)
|
rs121908350
|
|
|
NM_022124.6(CDH23):c.5149T>C (p.Cys1717Arg)
|
rs552998089
|
|
|
NM_022124.6(CDH23):c.6049+1G>A
|
rs111033247
|
|
|
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala)
|
rs762226905
|
|
|
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn)
|
rs121908348
|
|
|
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro)
|
rs762118583
|
|
|
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
|
|
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del)
|
rs774559018
|
|
|
NM_022124.6(CDH23):c.8351_8352insCGAT (p.Leu2785fs)
|
rs1564805114
|
|
|
NM_022336.4(EDAR):c.1087_1088insGA (p.Thr363fs)
|
|
|
|
NM_022336.4(EDAR):c.1135G>A (p.Glu379Lys)
|
|
|
|
NM_022336.4(EDAR):c.1181G>A (p.Gly394Asp)
|
|
|
|
NM_022336.4(EDAR):c.1205G>A (p.Ser402Asn)
|
|
|
|
NM_022336.4(EDAR):c.1208C>G (p.Thr403Arg)
|
|
|
|
NM_022336.4(EDAR):c.1213G>A (p.Gly405Ser)
|
|
|
|
NM_022336.4(EDAR):c.1213G>C (p.Gly405Arg)
|
rs1696610650
|
|
|
NM_022336.4(EDAR):c.1258C>T (p.Arg420Trp)
|
|
|
|
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)
|
rs121908453
|
|
|
NM_022336.4(EDAR):c.1271T>G (p.Val424Gly)
|
|
|
|
NM_022336.4(EDAR):c.1273G>T (p.Glu425Ter)
|
|
|
|
NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter)
|
rs886041005
|
|
|
NM_022336.4(EDAR):c.1293A>G (p.Ile431Met)
|
rs1696608635
|
|
|
NM_022336.4(EDAR):c.287T>C (p.Phe96Ser)
|
rs1697319420
|
|
|
NM_022336.4(EDAR):c.985A>T (p.Ile329Phe)
|
rs1553444917
|
|
|
NM_022336.4(EDAR):c.986T>G (p.Ile329Ser)
|
rs1696805635
|
|
|
NM_022489.4(INF2):c.1735+1G>A
|
rs2140670271
|
|
|
NM_022489.4(INF2):c.218G>A (p.Gly73Asp)
|
|
|
|
NM_022489.4(INF2):c.226CTG[2] (p.Leu78del)
|
rs1889499325
|
|
|
NM_022489.4(INF2):c.286del (p.Leu96fs)
|
|
|
|
NM_022489.4(INF2):c.311G>A (p.Cys104Tyr)
|
rs387907035
|
|
|
NM_022489.4(INF2):c.397G>A (p.Asp133Asn)
|
rs774135330
|
|
|
NM_022489.4(INF2):c.470G>A (p.Gly157Asp)
|
rs2140647207
|
|
|
NM_022489.4(INF2):c.485T>C (p.Leu162Pro)
|
rs2140647298
|
|
|
NM_022489.4(INF2):c.605A>G (p.Asn202Ser)
|
rs2140648522
|
|
|
NM_022489.4(INF2):c.641G>T (p.Arg214Leu)
|
|
|
|
NM_022489.4(INF2):c.652C>T (p.Arg218Trp)
|
rs267606878
|
|
|
NM_022489.4(INF2):c.658G>A (p.Glu220Lys)
|
rs530391015
|
|
|
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr)
|
rs1554162301
|
|
|
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met)
|
rs1554162016
|
|
|
NM_022841.7(RFX7):c.2459_2462del (p.Val820fs)
|
|
|
|
NM_023067.4(FOXL2):c.169T>A (p.Tyr57Asn)
|
rs1559922647
|
|
|
NM_023067.4(FOXL2):c.173C>G (p.Ser58Trp)
|
rs1057516142
|
|
|
NM_023067.4(FOXL2):c.175T>G (p.Tyr59Asp)
|
rs1559922634
|
|
|
NM_023067.4(FOXL2):c.178_192dup (p.Val60_Ala64dup)
|
rs863225452
|
|
|
NM_023067.4(FOXL2):c.187A>C (p.Ile63Leu)
|
rs1057516144
|
|
|
NM_023067.4(FOXL2):c.188T>A (p.Ile63Asn)
|
rs1315073489
|
|
|
NM_023067.4(FOXL2):c.193A>G (p.Met65Val)
|
rs1559922621
|
|
|
NM_023067.4(FOXL2):c.214G>T (p.Glu72Ter)
|
|
|
|
NM_023067.4(FOXL2):c.230T>C (p.Leu77Pro)
|
rs1559922577
|
|
|
NM_023067.4(FOXL2):c.262T>A (p.Phe88Ile)
|
rs1559922558
|
|
|
NM_023067.4(FOXL2):c.266C>A (p.Pro89Gln)
|
rs1226344391
|
|
|
NM_023067.4(FOXL2):c.266C>G (p.Pro89Arg)
|
rs1226344391
|
|
|
NM_023067.4(FOXL2):c.292T>C (p.Trp98Arg)
|
rs1057516149
|
|
|
NM_023067.4(FOXL2):c.298A>G (p.Asn100Asp)
|
rs1559922528
|
|
|
NM_023067.4(FOXL2):c.303C>G (p.Ser101Arg)
|
rs1057516151
|
|
|
NM_023067.4(FOXL2):c.310C>T (p.His104Tyr)
|
|
|
|
NM_023067.4(FOXL2):c.311A>G (p.His104Arg)
|
rs1057516153
|
|
|
NM_023067.4(FOXL2):c.313_315del (p.Asn105del)
|
rs1057516154
|
|
|
NM_023067.4(FOXL2):c.316C>T (p.Leu106Phe)
|
rs1057516156
|
|
|
NM_023067.4(FOXL2):c.319A>G (p.Ser107Gly)
|
rs1057516157
|
|
|
NM_023067.4(FOXL2):c.335T>G (p.Phe112Cys)
|
|
|
|
NM_023067.4(FOXL2):c.335TCA[1] (p.Ile113del)
|
rs1559922498
|
|
|
NM_023067.4(FOXL2):c.340A>G (p.Lys114Glu)
|
rs1057516159
|
|
|
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro)
|
rs1057516160
|
|
|
NM_023067.4(FOXL2):c.594del (p.Phe199fs)
|
|
|
|
NM_023067.4(FOXL2):c.622C>T (p.Gln208Ter)
|
|
|
|
NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe)
|
rs797044527
|
|
|
NM_023067.4(FOXL2):c.695_696insTGCAGCCGCAGCGGCTGCAGCAGCTGCGGCTGC (p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
|
|
|
|
NM_023067.4(FOXL2):c.775_778del (p.Thr259fs)
|
rs2107743541
|
|
|
NM_023067.4(FOXL2):c.841C>A (p.Pro281Thr)
|
|
|
|
NM_023067.4(FOXL2):c.927del (p.Pro310fs)
|
|
|
|
NM_023067.4(FOXL2):c.9del (p.Ser4fs)
|
|
|
|
NM_024079.5(ALG8):c.1057del (p.Trp353fs)
|
|
|
|
NM_024079.5(ALG8):c.1114dup (p.Ser372fs)
|
|
|
|
NM_024079.5(ALG8):c.1131del (p.Trp378fs)
|
|
|
|
NM_024079.5(ALG8):c.1179-7_1179-2del
|
|
|
|
NM_024079.5(ALG8):c.1184_1187delinsGTT (p.Leu395fs)
|
|
|
|
NM_024079.5(ALG8):c.1218del (p.Phe406_Leu407insTer)
|
|
|
|
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter)
|
rs200888240
|
|
|
NM_024079.5(ALG8):c.1276+1G>A
|
|
|
|
NM_024079.5(ALG8):c.1354G>T (p.Glu452Ter)
|
|
|
|
NM_024079.5(ALG8):c.136dup (p.Ile46fs)
|
|
|
|
NM_024079.5(ALG8):c.161dup (p.Trp55fs)
|
|
|
|
NM_024079.5(ALG8):c.219G>A (p.Trp73Ter)
|
|
|
|
NM_024079.5(ALG8):c.272del (p.Asn91fs)
|
|
|
|
NM_024079.5(ALG8):c.309dup (p.Leu104fs)
|
|
|
|
NM_024079.5(ALG8):c.460G>A (p.Gly154Arg)
|
|
|
|
NM_024079.5(ALG8):c.544C>T (p.Gln182Ter)
|
|
|
|
NM_024079.5(ALG8):c.643C>T (p.Arg215Ter)
|
|
|
|
NM_024079.5(ALG8):c.674-2A>G
|
|
|
|
NM_024079.5(ALG8):c.710_719dup (p.Leu241fs)
|
rs2136903056
|
|
|
NM_024079.5(ALG8):c.740T>G (p.Leu247Ter)
|
|
|
|
NM_024079.5(ALG8):c.761dup (p.Pro255fs)
|
rs968741434
|
|
|
NM_024079.5(ALG8):c.802del (p.Arg268fs)
|
rs2136899636
|
|
|
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp)
|
rs121908294
|
|
|
NM_024079.5(ALG8):c.824del (p.Gly275fs)
|
|
|
|
NM_024079.5(ALG8):c.828_829del (p.Cys277fs)
|
|
|
|
NM_024079.5(ALG8):c.867C>G (p.Tyr289Ter)
|
|
|
|
NM_024079.5(ALG8):c.96-1G>A
|
|
|
|
NM_024334.3(TMEM43):c.201dup (p.Leu68fs)
|
|
|
|
NM_024408.4(NOTCH2):c.2569dup (p.Tyr857fs)
|
|
|
|
NM_024408.4(NOTCH2):c.2626G>T (p.Glu876Ter)
|
|
|
|
NM_024408.4(NOTCH2):c.2653dup (p.His885fs)
|
rs2101114577
|
|
|
NM_024408.4(NOTCH2):c.2855_2858del (p.Glu952fs)
|
|
|
|
NM_024408.4(NOTCH2):c.337C>T (p.Arg113Ter)
|
|
|
|
NM_024408.4(NOTCH2):c.3508G>T (p.Gly1170Ter)
|
rs2101098803
|
|
|
NM_024408.4(NOTCH2):c.416-2A>G
|
|
|
|
NM_024408.4(NOTCH2):c.5781+1G>T
|
|
|
|
NM_024408.4(NOTCH2):c.6139del (p.Arg2047fs)
|
|
|
|
NM_024408.4(NOTCH2):c.6193_6194dup (p.Asn2066fs)
|
rs2101144806
|
|
|
NM_024408.4(NOTCH2):c.6274del (p.Leu2092fs)
|
|
|
|
NM_024408.4(NOTCH2):c.6450del (p.Val2151fs)
|
rs2101144082
|
|
|
NM_024408.4(NOTCH2):c.6586C>T (p.Gln2196Ter)
|
rs2101143618
|
|
|
NM_024408.4(NOTCH2):c.6640del (p.Ala2214fs)
|
|
|
|
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter)
|
rs1553193507
|
|
|
NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs)
|
rs771237928
|
|
|
NM_024408.4(NOTCH2):c.6912dup (p.Val2305fs)
|
rs2101142622
|
|
|
NM_024408.4(NOTCH2):c.6919_6920del (p.Phe2307fs)
|
rs1570654979
|
|
|
NM_024408.4(NOTCH2):c.7065dup (p.Ala2356fs)
|
|
|
|
NM_024408.4(NOTCH2):c.905dup (p.Cys302fs)
|
|
|
|
NM_024426.6(WT1):c.1016+1G>A
|
rs2133032244
|
|
|
NM_024426.6(WT1):c.1016+2T>G
|
rs1852674417
|
|
|
NM_024426.6(WT1):c.1114-1G>T
|
rs1851976798
|
|
|
NM_024426.6(WT1):c.1297T>G (p.Cys433Gly)
|
rs121907905
|
|
|
NM_024426.6(WT1):c.1348C>T (p.His450Tyr)
|
rs28942089
|
|
|
NM_024426.6(WT1):c.1354+2T>C
|
|
|
|
NM_024426.6(WT1):c.1354+4_1354+11del
|
rs1590332435
|
|
|
NM_024426.6(WT1):c.1384C>T (p.Gln462Ter)
|
|
|
|
NM_024426.6(WT1):c.1405G>T (p.Asp469Tyr)
|
rs28941778
|
|
|
NM_024426.6(WT1):c.1406A>G (p.Asp469Gly)
|
rs121907902
|
|
|
NM_024426.6(WT1):c.1421A>C (p.His474Pro)
|
rs1564969626
|
|
|
NM_024426.6(WT1):c.1433A>G (p.His478Arg)
|
|
|
|
NM_024426.6(WT1):c.1448-1G>A
|
|
|
|
NM_024426.6(WT1):c.1498C>T (p.Arg500Trp)
|
|
|
|
NM_024426.6(WT1):c.1498del (p.Arg500fs)
|
|
|
|
NM_024426.6(WT1):c.512G>T (p.Gly171Val)
|
rs1554946480
|
|
|
NM_024426.6(WT1):c.523G>T (p.Gly175Cys)
|
rs1590409377
|
|
|
NM_024426.6(WT1):c.888-2A>G
|
|
|
|
NM_024426.6(WT1):c.911C>T (p.Ser304Phe)
|
rs267602852
|
|
|
NM_024426.6(WT1):c.965+2T>C
|
|
|
|
NM_024529.5(CDC73):c.70G>T (p.Glu24Ter)
|
|
|
|
NM_024577.4(SH3TC2):c.1177+5G>A
|
rs1561765688
|
|
|
NM_024665.7(TBL1XR1):c.1000T>C (p.Cys334Arg)
|
rs1576994101
|
|
|
NM_024665.7(TBL1XR1):c.1018_1021del (p.Arg340fs)
|
rs1715100386
|
|
|
NM_024665.7(TBL1XR1):c.1043A>G (p.His348Arg)
|
rs1576994053
|
|
|
NM_024665.7(TBL1XR1):c.1048-1G>A
|
rs1576993734
|
|
|
NM_024665.7(TBL1XR1):c.1100G>T (p.Cys367Phe)
|
rs1576993654
|
|
|
NM_024665.7(TBL1XR1):c.1182_1183dup (p.Tyr395fs)
|
rs2108414363
|
|
|
NM_024665.7(TBL1XR1):c.1184A>G (p.Tyr395Cys)
|
rs1576982808
|
|
|
NM_024665.7(TBL1XR1):c.1336T>C (p.Tyr446His)
|
rs1553808301
|
|
|
NM_024665.7(TBL1XR1):c.1336T>G (p.Tyr446Asp)
|
rs1553808301
|
|
|
NM_024665.7(TBL1XR1):c.1378G>A (p.Gly460Ser)
|
rs2108407721
|
|
|
NM_024665.7(TBL1XR1):c.1379G>T (p.Gly460Val)
|
|
|
|
NM_024665.7(TBL1XR1):c.1385T>C (p.Phe462Ser)
|
|
|
|
NM_024665.7(TBL1XR1):c.1387G>A (p.Asp463Asn)
|
rs1560098548
|
|
|
NM_024665.7(TBL1XR1):c.1453G>A (p.Gly485Arg)
|
rs2108378323
|
|
|
NM_024665.7(TBL1XR1):c.172_173del (p.Gln58fs)
|
rs2108503904
|
|
|
NM_024665.7(TBL1XR1):c.187G>A (p.Glu63Lys)
|
rs2108503870
|
|
|
NM_024665.7(TBL1XR1):c.204+2del
|
rs2108503840
|
|
|
NM_024665.7(TBL1XR1):c.205-7A>G
|
rs1717116134
|
|
|
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter)
|
rs1577029680
|
|
|
NM_024665.7(TBL1XR1):c.514G>C (p.Val172Leu)
|
rs1716920045
|
|
|
NM_024665.7(TBL1XR1):c.524G>A (p.Cys175Tyr)
|
|
|
|
NM_024665.7(TBL1XR1):c.59-1G>A
|
rs2108504144
|
|
|
NM_024665.7(TBL1XR1):c.679G>A (p.Asp227Asn)
|
rs2108490656
|
|
|
NM_024665.7(TBL1XR1):c.689C>T (p.Ser230Phe)
|
rs1553815393
|
|
|
NM_024665.7(TBL1XR1):c.703-2A>G
|
rs1577018466
|
|
|
NM_024665.7(TBL1XR1):c.710G>A (p.Gly237Asp)
|
rs1716484744
|
|
|
NM_024665.7(TBL1XR1):c.728G>A (p.Gly243Asp)
|
rs2108480284
|
|
|
NM_024665.7(TBL1XR1):c.734A>G (p.Tyr245Cys)
|
rs878854401
|
|
|
NM_024665.7(TBL1XR1):c.809T>G (p.Phe270Cys)
|
|
|
|
NM_024665.7(TBL1XR1):c.853G>A (p.Gly285Arg)
|
|
|
|
NM_024665.7(TBL1XR1):c.864+1G>A
|
|
|
|
NM_024665.7(TBL1XR1):c.922T>C (p.Ser308Pro)
|
|
|
|
NM_024665.7(TBL1XR1):c.937G>A (p.Asp313Asn)
|
|
|
|
NM_024665.7(TBL1XR1):c.970T>G (p.Ser324Ala)
|
rs2108437312
|
|
|
NM_024665.7(TBL1XR1):c.973_975dup (p.Cys325dup)
|
rs1715105181
|
|
|
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr)
|
rs1553810255
|
|
|
NM_024665.7(TBL1XR1):c.977G>A (p.Ser326Asn)
|
|
|
|
NM_024665.7(TBL1XR1):c.977G>T (p.Ser326Ile)
|
rs1135401760
|
|
|
NM_024675.4(PALB2):c.1039_1042delinsAAAAAA (p.Glu347fs)
|
rs1567221761
|
|
|
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)
|
rs375699023
|
|
|
NM_024675.4(PALB2):c.1384G>T (p.Glu462Ter)
|
rs1597096243
|
|
|
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)
|
rs786203714
|
|
|
NM_024675.4(PALB2):c.1451T>G (p.Leu484Ter)
|
rs786203714
|
|
|
NM_024675.4(PALB2):c.18G>T (p.Gly6=)
|
rs587782462
|
|
|
NM_024675.4(PALB2):c.211+1G>T
|
rs1555462026
|
|
|
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)
|
rs1555460445
|
|
|
NM_024675.4(PALB2):c.2405del (p.Cys802fs)
|
rs1966856604
|
|
|
NM_024675.4(PALB2):c.2479del (p.Thr827fs)
|
rs1597088811
|
|
|
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)
|
rs750650768
|
|
|
NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer)
|
rs767633741
|
|
|
NM_024675.4(PALB2):c.2748+1G>T
|
rs753153576
|
|
|
NM_024675.4(PALB2):c.2996+2T>C
|
rs1966797789
|
|
|
NM_024675.4(PALB2):c.3201+5G>T
|
rs1597073208
|
|
|
NM_024675.4(PALB2):c.3314_3315del (p.Val1105fs)
|
rs2142271759
|
|
|
NM_024675.4(PALB2):c.3351-2A>T
|
|
|
|
NM_024675.4(PALB2):c.47A>C (p.Lys16Thr)
|
|
|
|
NM_024675.4(PALB2):c.601dup (p.Ser201fs)
|
rs886041220
|
|
|
NM_024675.4(PALB2):c.801_802dup (p.Lys268fs)
|
rs1555461618
|
|
|
NM_024675.4(PALB2):c.820dup (p.Thr274fs)
|
rs1555461611
|
|
|
NM_024675.4(PALB2):c.829_832del (p.His276_Asp277insTer)
|
rs1555461602
|
|
|
NM_024675.4(PALB2):c.922_923delinsATAG (p.Ala308fs)
|
|
|
|
NM_024818.6(UBA5):c.542G>A (p.Cys181Tyr)
|
|
|
|
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter)
|
rs374052333
|
|
|
NM_024818.6(UBA5):c.799C>T (p.Gln267Ter)
|
rs762779162
|
|
|
NM_024915.4(GRHL2):c.1099-1G>A
|
|
|
|
NM_024915.4(GRHL2):c.1318C>T (p.Gln440Ter)
|
|
|
|
NM_024915.4(GRHL2):c.1698+1G>A
|
|
|
|
NM_025136.4(OPA3):c.142+5G>C
|
rs1250409781
|
|
|
NM_025136.4(OPA3):c.152G>A (p.Trp51Ter)
|
|
|
|
NM_025136.4(OPA3):c.1A>G (p.Met1Val)
|
rs1230629432
|
|
|
NM_025136.4(OPA3):c.235C>G (p.Leu79Val)
|
rs886037828
|
|
|
NM_025136.4(OPA3):c.244G>T (p.Glu82Ter)
|
|
|
|
NM_025136.4(OPA3):c.308_312del (p.Arg103fs)
|
|
|
|
NM_031475.3(ESPN):c.2496del (p.Gly831_Tyr832insTer)
|
rs754472294
|
|
|
NM_031889.3(ENAM):c.588+1dup
|
rs752102959
|
|
|
NM_031889.3(ENAM):c.92T>G (p.Leu31Arg)
|
rs1060499539
|
|
|
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter)
|
rs1555607749
|
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
|
NM_032043.3(BRIP1):c.1629-3_1634del
|
|
|
|
NM_032043.3(BRIP1):c.2339_2340del (p.Ile780fs)
|
|
|
|
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter)
|
rs2144384208
|
|
|
NM_032043.3(BRIP1):c.241del (p.Glu81fs)
|
rs1292988272
|
|
|
NM_032043.3(BRIP1):c.2905+1G>C
|
|
|
|
NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs)
|
rs771028677
|
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
|
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs)
|
rs1342519012
|
|
|
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)
|
rs748598593
|
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
|
|
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs)
|
rs1426528935
|
|
|
NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)
|
|
|
|
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter)
|
rs786203521
|
|
|
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter)
|
rs1603346983
|
|
|
NM_032043.3(BRIP1):c.918+2T>C
|
rs1603346587
|
|
|
NM_032436.4(CHAMP1):c.1440G>A (p.Trp480Ter)
|
|
|
|
NM_032436.4(CHAMP1):c.1903_1906del (p.Glu635fs)
|
|
|
|
NM_032436.4(CHAMP1):c.2004_2005del (p.Asn669fs)
|
|
|
|
NM_032436.4(CHAMP1):c.2027dup (p.Glu677fs)
|
|
|
|
NM_032436.4(CHAMP1):c.343C>T (p.Gln115Ter)
|
|
|
|
NM_032436.4(CHAMP1):c.575_576del (p.Pro192fs)
|
|
|
|
NM_032436.4(CHAMP1):c.661dup (p.Thr221fs)
|
rs1594129609
|
|
|
NM_032436.4(CHAMP1):c.824_828del (p.Thr274_Ser275insTer)
|
rs2139419505
|
|
|
NM_032531.4(KIRREL3):c.2019G>A (p.Met673Ile)
|
rs1057519593
|
|
|
NM_033109.5(PNPT1):c.162-2A>C
|
|
|
|
NM_033109.5(PNPT1):c.2014-3C>G
|
rs748445058
|
|
|
NM_033337.3(CAV3):c.299T>A (p.Ile100Asn)
|
rs1708139265
|
|
|
NM_033380.3(COL4A5):c.2396G>A (p.Gly799Asp)
|
rs2147849728
|
|
|
NM_052918.5(SORCS1):c.3371+167C>T
|
rs1844748933
|
|
|
NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs)
|
rs1380822792
|
|
|
NM_057175.5(NAA15):c.1021del (p.Ile341fs)
|
|
|
|
NM_057175.5(NAA15):c.1118T>A (p.Leu373Ter)
|
rs2110948948
|
|
|
NM_057175.5(NAA15):c.1257+1G>A
|
rs1747996495
|
|
|
NM_057175.5(NAA15):c.134A>G (p.His45Arg)
|
rs2110895965
|
|
|
NM_057175.5(NAA15):c.139_139+1dup
|
|
|
|
NM_057175.5(NAA15):c.1485T>G (p.Tyr495Ter)
|
|
|
|
NM_057175.5(NAA15):c.1549G>C (p.Glu517Gln)
|
|
|
|
NM_057175.5(NAA15):c.1645C>T (p.Arg549Ter)
|
rs1179904078
|
|
|
NM_057175.5(NAA15):c.1772del (p.Glu591fs)
|
rs2110977229
|
|
|
NM_057175.5(NAA15):c.2126A>C (p.His709Pro)
|
|
|
|
NM_057175.5(NAA15):c.219G>T (p.Leu73Phe)
|
|
|
|
NM_057175.5(NAA15):c.231dup (p.Lys78fs)
|
rs757423402
|
|
|
NM_057175.5(NAA15):c.2341A>T (p.Lys781Ter)
|
|
|
|
NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter)
|
rs1270628305
|
|
|
NM_057175.5(NAA15):c.245-2A>C
|
|
|
|
NM_057175.5(NAA15):c.266T>C (p.Leu89Pro)
|
rs1560965164
|
|
|
NM_057175.5(NAA15):c.327G>A (p.Trp109Ter)
|
rs2110911054
|
|
|
NM_057175.5(NAA15):c.395dup (p.Tyr133fs)
|
|
|
|
NM_057175.5(NAA15):c.403-1G>A
|
rs2110915238
|
|
|
NM_057175.5(NAA15):c.55-2A>C
|
|
|
|
NM_057175.5(NAA15):c.631G>T (p.Glu211Ter)
|
|
|
|
NM_057175.5(NAA15):c.655C>T (p.Gln219Ter)
|
|
|
|
NM_057175.5(NAA15):c.691+1G>A
|
rs1579109565
|
|
|
NM_057175.5(NAA15):c.74A>C (p.Gln25Pro)
|
|
|
|
NM_057175.5(NAA15):c.779del (p.Tyr260fs)
|
rs2110930242
|
|
|
NM_057175.5(NAA15):c.839_840del (p.Ile279_Tyr280insTer)
|
|
|
|
NM_057175.5(NAA15):c.962del (p.Gly321fs)
|
|
|
|
NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter)
|
rs1555605103
|
|
|
NM_058216.3(RAD51C):c.1026+1G>C
|
rs1567817516
|
|
|
NM_058216.3(RAD51C):c.1026+5_1026+7del
|
rs587781410
|
|
|
NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter)
|
rs1598449660
|
|
|
NM_058216.3(RAD51C):c.145+1G>A
|
rs757128712
|
|
|
NM_058216.3(RAD51C):c.145+1G>C
|
|
|
|
NM_058216.3(RAD51C):c.145+1G>T
|
rs757128712
|
|
|
NM_058216.3(RAD51C):c.145+2T>C
|
|
|
|
NM_058216.3(RAD51C):c.145+2T>G
|
rs1057517641
|
|
|
NM_058216.3(RAD51C):c.145+2_145+3insTT
|
rs1567783294
|
|
|
NM_058216.3(RAD51C):c.145+2_145+7delinsCTAAG
|
rs878855177
|
|
|
NM_058216.3(RAD51C):c.145+3A>C
|
|
|
|
NM_058216.3(RAD51C):c.146-2A>G
|
rs1555593457
|
|
|
NM_058216.3(RAD51C):c.146-4_146-2del
|
rs1555593450
|
|
|
NM_058216.3(RAD51C):c.168del (p.Ala57fs)
|
rs2143717943
|
|
|
NM_058216.3(RAD51C):c.222A>G (p.Arg74=)
|
rs2047945471
|
|
|
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs)
|
rs1598455598
|
|
|
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter)
|
rs1555593616
|
|
|
NM_058216.3(RAD51C):c.305C>T (p.Thr102Ile)
|
rs755106004
|
|
|
NM_058216.3(RAD51C):c.323A>G (p.Asp108Gly)
|
rs1555593745
|
|
|
NM_058216.3(RAD51C):c.341G>T (p.Gly114Val)
|
rs1555593767
|
|
|
NM_058216.3(RAD51C):c.374G>T (p.Gly125Val)
|
rs267606998
|
|
|
NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs)
|
rs2047958236
|
|
|
NM_058216.3(RAD51C):c.388G>A (p.Gly130Arg)
|
rs773293999
|
|
|
NM_058216.3(RAD51C):c.388G>C (p.Gly130Arg)
|
|
|
|
NM_058216.3(RAD51C):c.389G>A (p.Gly130Glu)
|
|
|
|
NM_058216.3(RAD51C):c.389G>C (p.Gly130Ala)
|
rs2047958982
|
|
|
NM_058216.3(RAD51C):c.392A>T (p.Lys131Ile)
|
rs762761380
|
|
|
NM_058216.3(RAD51C):c.394A>C (p.Thr132Pro)
|
rs2047959481
|
|
|
NM_058216.3(RAD51C):c.395C>G (p.Thr132Arg)
|
rs730881930
|
|
|
NM_058216.3(RAD51C):c.397C>A (p.Gln133Lys)
|
rs387907159
|
|
|
NM_058216.3(RAD51C):c.399dup (p.Leu134fs)
|
|
|
|
NM_058216.3(RAD51C):c.403T>C (p.Cys135Arg)
|
rs878855178
|
|
|
NM_058216.3(RAD51C):c.404+1G>A
|
rs1555593939
|
|
|
NM_058216.3(RAD51C):c.404+1G>C
|
rs1555593939
|
|
|
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)
|
rs767796996
|
|
|
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser)
|
rs767796996
|
|
|
NM_058216.3(RAD51C):c.404G>T (p.Cys135Phe)
|
rs767796996
|
|
|
NM_058216.3(RAD51C):c.405-1G>A
|
rs587782036
|
|
|
NM_058216.3(RAD51C):c.405-1G>C
|
rs587782036
|
|
|
NM_058216.3(RAD51C):c.405-1G>T
|
|
|
|
NM_058216.3(RAD51C):c.405-6T>A
|
rs1064793245
|
|
|
NM_058216.3(RAD51C):c.405T>G (p.Cys135Trp)
|
|
|
|
NM_058216.3(RAD51C):c.446GAG[1] (p.Gly150del)
|
rs2048024043
|
|
|
NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs)
|
rs1598460178
|
|
|
NM_058216.3(RAD51C):c.448G>A (p.Gly150Arg)
|
rs553112850
|
|
|
NM_058216.3(RAD51C):c.449G>A (p.Gly150Glu)
|
rs730881934
|
|
|
NM_058216.3(RAD51C):c.449G>T (p.Gly150Val)
|
|
|
|
NM_058216.3(RAD51C):c.467T>A (p.Val156Asp)
|
rs1435180142
|
|
|
NM_058216.3(RAD51C):c.472dup (p.Ile158fs)
|
rs2143746162
|
|
|
NM_058216.3(RAD51C):c.485G>A (p.Gly162Glu)
|
rs35151472
|
|
|
NM_058216.3(RAD51C):c.491T>C (p.Phe164Ser)
|
rs1060502589
|
|
|
NM_058216.3(RAD51C):c.502A>G (p.Arg168Gly)
|
rs587781490
|
|
|
NM_058216.3(RAD51C):c.504A>C (p.Arg168Ser)
|
|
|
|
NM_058216.3(RAD51C):c.519dup (p.Thr174fs)
|
rs1598460710
|
|
|
NM_058216.3(RAD51C):c.532C>T (p.Gln178Ter)
|
rs1555594861
|
|
|
NM_058216.3(RAD51C):c.535del (p.His179fs)
|
rs1555594864
|
|
|
NM_058216.3(RAD51C):c.561dup (p.Lys188fs)
|
|
|
|
NM_058216.3(RAD51C):c.570_571+16del
|
|
|
|
NM_058216.3(RAD51C):c.571+1G>T
|
rs746870368
|
|
|
NM_058216.3(RAD51C):c.571+1del
|
rs1327086366
|
|
|
NM_058216.3(RAD51C):c.571G>T (p.Glu191Ter)
|
|
|
|
NM_058216.3(RAD51C):c.572-1854_705+2812del
|
|
|
|
NM_058216.3(RAD51C):c.572-1G>C
|
rs1413872299
|
|
|
NM_058216.3(RAD51C):c.572-1G>T
|
rs1413872299
|
|
|
NM_058216.3(RAD51C):c.589G>T (p.Glu197Ter)
|
rs1555597094
|
|
|
NM_058216.3(RAD51C):c.612del (p.Leu205fs)
|
rs2143797889
|
|
|
NM_058216.3(RAD51C):c.615_618del (p.Ser206fs)
|
|
|
|
NM_058216.3(RAD51C):c.674TTC[1] (p.Leu226del)
|
rs1555597217
|
|
|
NM_058216.3(RAD51C):c.677T>C (p.Leu226Pro)
|
rs1225858240
|
|
|
NM_058216.3(RAD51C):c.704_705+21del
|
|
|
|
NM_058216.3(RAD51C):c.705+1G>A
|
rs876658644
|
|
|
NM_058216.3(RAD51C):c.705+1G>T
|
rs876658644
|
|
|
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn)
|
rs755849719
|
|
|
NM_058216.3(RAD51C):c.706-1G>A
|
rs1555599090
|
|
|
NM_058216.3(RAD51C):c.706-1G>C
|
|
|
|
NM_058216.3(RAD51C):c.706-1G>T
|
rs1555599090
|
|
|
NM_058216.3(RAD51C):c.706-2A>C
|
rs587780259
|
|
|
NM_058216.3(RAD51C):c.708_837+2del
|
|
|
|
NM_058216.3(RAD51C):c.710G>C (p.Arg237Pro)
|
rs370393672
|
|
|
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn)
|
rs876659188
|
|
|
NM_058216.3(RAD51C):c.732del (p.Ile244fs)
|
rs1060502601
|
|
|
NM_058216.3(RAD51C):c.801del (p.Gln267fs)
|
rs2143853790
|
|
|
NM_058216.3(RAD51C):c.80T>C (p.Leu27Pro)
|
rs587781309
|
|
|
NM_058216.3(RAD51C):c.829A>T (p.Arg277Ter)
|
|
|
|
NM_058216.3(RAD51C):c.82dup (p.Val28fs)
|
rs2143677258
|
|
|
NM_058216.3(RAD51C):c.835G>C (p.Ala279Pro)
|
rs587782507
|
|
|
NM_058216.3(RAD51C):c.837+1G>C
|
rs760235677
|
|
|
NM_058216.3(RAD51C):c.837+1G>T
|
rs760235677
|
|
|
NM_058216.3(RAD51C):c.837+1_837+13del
|
|
|
|
NM_058216.3(RAD51C):c.837+1del
|
rs1555599288
|
|
|
NM_058216.3(RAD51C):c.837+4_837+7del
|
rs727503760
|
|
|
NM_058216.3(RAD51C):c.837+5G>T
|
rs1567799952
|
|
|
NM_058216.3(RAD51C):c.838-1G>C
|
|
|
|
NM_058216.3(RAD51C):c.838-2A>G
|
rs748589398
|
|
|
NM_058216.3(RAD51C):c.838-2A>T
|
rs748589398
|
|
|
NM_058216.3(RAD51C):c.851_854dup (p.Met286fs)
|
rs1060502605
|
|
|
NM_058216.3(RAD51C):c.860del (p.Thr287fs)
|
rs2143930383
|
|
|
NM_058216.3(RAD51C):c.904+1G>A
|
rs1555602159
|
|
|
NM_058216.3(RAD51C):c.904+1G>T
|
rs1555602159
|
|
|
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg)
|
rs1555602158
|
|
|
NM_058216.3(RAD51C):c.905-2A>G
|
rs779582317
|
|
|
NM_058216.3(RAD51C):c.905-3_906del
|
rs730881941
|
|
|
NM_058216.3(RAD51C):c.905_908dup (p.Ser304fs)
|
|
|
|
NM_058216.3(RAD51C):c.929_939del (p.Thr310fs)
|
|
|
|
NM_058216.3(RAD51C):c.934C>G (p.Arg312Gly)
|
rs730881932
|
|
|
NM_058216.3(RAD51C):c.942_948del (p.Phe315fs)
|
|
|
|
NM_058216.3(RAD51C):c.952del (p.Asp318fs)
|
|
|
|
NM_058216.3(RAD51C):c.959del (p.Lys320fs)
|
|
|
|
NM_058216.3(RAD51C):c.964del (p.Arg322fs)
|
rs1555603056
|
|
|
NM_058216.3(RAD51C):c.965+1G>A
|
rs730881933
|
|
|
NM_058216.3(RAD51C):c.965+1del
|
|
|
|
NM_058216.3(RAD51C):c.965+5G>A
|
rs774586107
|
|
|
NM_058216.3(RAD51C):c.965+5G>C
|
|
|
|
NM_058216.3(RAD51C):c.966delG
|
rs2144044105
|
|
|
NM_058216.3(RAD51C):c.974delinsAA (p.Thr325fs)
|
|
|
|
NM_058216.3:c.(705+1_706-1)_(1131+1_?)del
|
|
|
|
NM_058216.3:c.-20_705+5del
|
|
|
|
NM_058216.3:c.1_571del
|
|
|
|
NM_058216.3:c.905_966del
|
|
|
|
NM_058246.4(DNAJB6):c.149C>T (p.Ala50Val)
|
rs575604496
|
|
|
NM_058246.4(DNAJB6):c.236G>A (p.Gly79Asp)
|
rs575938861
|
|
|
NM_058246.4(DNAJB6):c.265T>C (p.Phe89Leu)
|
rs387907150
|
|
|
NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val)
|
rs869320701
|
|
|
NM_080680.3(COL11A2):c.1218dup (p.Ala407fs)
|
|
|
|
NM_080680.3(COL11A2):c.129_132dup (p.Asp45delinsProTer)
|
|
|
|
NM_080680.3(COL11A2):c.2062G>A (p.Gly688Arg)
|
|
|
|
NM_080680.3(COL11A2):c.2087_2090del (p.Glu696fs)
|
rs1583335192
|
|
|
NM_080680.3(COL11A2):c.2215G>A (p.Gly739Ser)
|
|
|
|
NM_080680.3(COL11A2):c.2567G>A (p.Gly856Glu)
|
|
|
|
NM_080680.3(COL11A2):c.2589dup (p.Ser864fs)
|
|
|
|
NM_080680.3(COL11A2):c.2734_2736+14del
|
|
|
|
NM_080680.3(COL11A2):c.3142G>A (p.Gly1048Ser)
|
rs1057524643
|
|
|
NM_080680.3(COL11A2):c.3295G>C (p.Gly1099Arg)
|
|
|
|
NM_080680.3(COL11A2):c.3329dup (p.Gly1111fs)
|
|
|
|
NM_080680.3(COL11A2):c.3582+2_3582+3del
|
|
|
|
NM_080680.3(COL11A2):c.3746G>A (p.Gly1249Glu)
|
|
|
|
NM_080680.3(COL11A2):c.3827G>C (p.Gly1276Ala)
|
|
|
|
NM_080680.3(COL11A2):c.3852+1G>T
|
|
|
|
NM_080680.3(COL11A2):c.4081A>T (p.Lys1361Ter)
|
|
|
|
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter)
|
rs121912950
|
|
|
NM_080680.3(COL11A2):c.4142G>A (p.Gly1381Glu)
|
|
|
|
NM_080680.3(COL11A2):c.4798C>T (p.Arg1600Ter)
|
|
|
|
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)
|
rs121908375
|
|
|
NM_130837.3(OPA1):c.1035+5G>A
|
rs754576717
|
|
|
NM_130837.3(OPA1):c.1036-16_1111del
|
|
|
|
NM_130837.3(OPA1):c.1051G>C (p.Asp351His)
|
rs1577228080
|
|
|
NM_130837.3(OPA1):c.1102_1103delinsGA (p.Ile368Glu)
|
|
|
|
NM_130837.3(OPA1):c.1118C>G (p.Ser373Cys)
|
rs2109015193
|
|
|
NM_130837.3(OPA1):c.1149+1G>T
|
|
|
|
NM_130837.3(OPA1):c.1149+1_1149+5del
|
|
|
|
NM_130837.3(OPA1):c.114_115insG (p.Ser39fs)
|
|
|
|
NM_130837.3(OPA1):c.1230+5G>A
|
rs1057519244
|
|
|
NM_130837.3(OPA1):c.1241_1245del (p.Leu414fs)
|
|
|
|
NM_130837.3(OPA1):c.1291A>G (p.Thr431Ala)
|
|
|
|
NM_130837.3(OPA1):c.1309dup (p.Ile437fs)
|
|
|
|
NM_130837.3(OPA1):c.1348G>A (p.Val450Met)
|
|
|
|
NM_130837.3(OPA1):c.1454A>T (p.Asn485Ile)
|
rs1577243012
|
|
|
NM_130837.3(OPA1):c.1459A>G (p.Ile487Val)
|
rs387906899
|
|
|
NM_130837.3(OPA1):c.1478A>G (p.Asp493Gly)
|
|
|
|
NM_130837.3(OPA1):c.1511del (p.Thr504fs)
|
rs794729196
|
|
|
NM_130837.3(OPA1):c.164dup (p.Leu55fs)
|
rs1728771454
|
|
|
NM_130837.3(OPA1):c.1720G>A (p.Glu574Lys)
|
rs2109058910
|
|
|
NM_130837.3(OPA1):c.1728_1734del (p.Glu576fs)
|
rs2109058985
|
|
|
NM_130837.3(OPA1):c.1852C>T (p.Gln618Ter)
|
|
|
|
NM_130837.3(OPA1):c.1890_1891del (p.Glu630fs)
|
rs1711513680
|
|
|
NM_130837.3(OPA1):c.1935+1G>C
|
rs1711518217
|
|
|
NM_130837.3(OPA1):c.2142del (p.Gln714fs)
|
rs2109139435
|
|
|
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter)
|
rs863224906
|
|
|
NM_130837.3(OPA1):c.2661+1G>C
|
|
|
|
NM_130837.3(OPA1):c.2778+1G>A
|
|
|
|
NM_130837.3(OPA1):c.2779-9A>G
|
rs1716524583
|
|
|
NM_130837.3(OPA1):c.2806del (p.Trp936fs)
|
|
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
|
NM_130837.3(OPA1):c.2983+6T>A
|
rs1577335678
|
|
|
NM_130837.3(OPA1):c.2987A>C (p.Lys996Thr)
|
rs1721758840
|
|
|
NM_130837.3(OPA1):c.3G>A (p.Met1Ile)
|
rs1724946838
|
|
|
NM_130837.3(OPA1):c.880G>T (p.Glu294Ter)
|
|
|
|
NM_130837.3(OPA1):c.885C>G (p.Asn295Lys)
|
rs750185470
|
|
|
NM_130837.3(OPA1):c.970T>C (p.Ser324Pro)
|
rs2109011385
|
|
|
NM_133378.4(TTN):c.[38532C>A];[52301A>G]
|
|
|
|
NM_133510.4(RAD51B):c.84G>A (p.Gln28=)
|
rs764896402
|
|
|
NM_138459.5(NUS1):c.220_244del (p.Gly74fs)
|
|
|
|
NM_138459.5(NUS1):c.26G>A (p.Trp9Ter)
|
rs2114674308
|
|
|
NM_138459.5(NUS1):c.415+2_415+3insCGTAGGT
|
|
|
|
NM_138459.5(NUS1):c.439A>T (p.Arg147Ter)
|
|
|
|
NM_138459.5(NUS1):c.640A>T (p.Lys214Ter)
|
|
|
|
NM_138459.5(NUS1):c.677dup (p.Leu226fs)
|
|
|
|
NM_138459.5(NUS1):c.692-2A>G
|
rs2114693876
|
|
|
NM_138459.5(NUS1):c.792-2A>G
|
|
|
|
NM_138459.5(NUS1):c.861T>A (p.Cys287Ter)
|
|
|
|
NM_138576.4(BCL11B):c.1206del (p.Phe403fs)
|
|
|
|
NM_138576.4(BCL11B):c.1535_1536del (p.Ala512fs)
|
|
|
|
NM_138576.4(BCL11B):c.1582del (p.His528fs)
|
rs2139757991
|
|
|
NM_138576.4(BCL11B):c.1707del (p.Gly570fs)
|
|
|
|
NM_138576.4(BCL11B):c.1742del (p.Gly581fs)
|
rs1886447945
|
|
|
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys)
|
rs888230251
|
|
|
NM_138576.4(BCL11B):c.2439_2452dup (p.His818fs)
|
rs2139753087
|
|
|
NM_138576.4(BCL11B):c.2448_2461del (p.Ser817fs)
|
rs2139753037
|
|
|
NM_138576.4(BCL11B):c.2474dup (p.Cys826fs)
|
|
|
|
NM_138576.4(BCL11B):c.2507G>A (p.Ser836Asn)
|
rs2139752892
|
|
|
NM_138576.4(BCL11B):c.2513A>G (p.Lys838Arg)
|
|
|
|
NM_138576.4(BCL11B):c.785G>A (p.Arg262Gln)
|
rs1886516216
|
|
|
NM_138576.4(BCL11B):c.908del (p.Pro303fs)
|
|
|
|
NM_138691.3(TMC1):c.1094G>A (p.Arg365Lys)
|
|
|
|
NM_138691.3(TMC1):c.1143C>G (p.Tyr381Ter)
|
rs757327146
|
|
|
NM_138691.3(TMC1):c.115A>T (p.Arg39Ter)
|
|
|
|
NM_138691.3(TMC1):c.1166G>A (p.Arg389Gln)
|
|
|
|
NM_138691.3(TMC1):c.1209G>A (p.Trp403Ter)
|
rs773851192
|
|
|
NM_138691.3(TMC1):c.1224+2T>C
|
rs1564555240
|
|
|
NM_138691.3(TMC1):c.1259G>A (p.Cys420Tyr)
|
rs1564556995
|
|
|
NM_138691.3(TMC1):c.1299C>G (p.Tyr433Ter)
|
|
|
|
NM_138691.3(TMC1):c.1363T>C (p.Tyr455His)
|
rs1828278868
|
|
|
NM_138691.3(TMC1):c.1405-2A>T
|
|
|
|
NM_138691.3(TMC1):c.150del (p.Asn50fs)
|
rs2132189585
|
|
|
NM_138691.3(TMC1):c.1543T>C (p.Cys515Arg)
|
rs121908076
|
|
|
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn)
|
rs121908072
|
|
|
NM_138691.3(TMC1):c.1728C>G (p.Asn576Lys)
|
rs761261855
|
|
|
NM_138691.3(TMC1):c.1753_1754insA (p.Gly585fs)
|
rs1828785763
|
|
|
NM_138691.3(TMC1):c.1788C>A (p.Ser596Arg)
|
rs1290684098
|
|
|
NM_138691.3(TMC1):c.2030T>C (p.Ile677Thr)
|
|
|
|
NM_138691.3(TMC1):c.2035G>A (p.Glu679Lys)
|
rs1828965654
|
|
|
NM_138691.3(TMC1):c.2050G>A (p.Asp684Asn)
|
rs563322370
|
|
|
NM_138691.3(TMC1):c.2050G>C (p.Asp684His)
|
|
|
|
NM_138691.3(TMC1):c.596A>T (p.Asn199Ile)
|
rs756960425
|
|
|
NM_138691.3(TMC1):c.643-2A>G
|
|
|
|
NM_138691.3(TMC1):c.945G>A (p.Trp315Ter)
|
rs1564554255
|
|
|
NM_138694.4(PKHD1):c.10727G>T (p.Trp3576Leu)
|
rs2150413999
|
|
|
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)
|
rs786204696
|
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
|
NM_138694.4(PKHD1):c.4346G>T (p.Gly1449Val)
|
rs2128144126
|
|
|
NM_138694.4(PKHD1):c.7529C>A (p.Ser2510Tyr)
|
rs1775373904
|
|
|
NM_138694.4(PKHD1):c.820dup (p.Arg274fs)
|
rs1582064844
|
|
|
NM_138694.4(PKHD1):c.880+1G>C
|
rs1582064292
|
|
|
NM_138694.4(PKHD1):c.9208C>T (p.Gln3070Ter)
|
rs1582441455
|
|
|
NM_139242.4(MTFMT):c.1022del (p.Thr341fs)
|
|
|
|
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp)
|
rs193922716
|
|
|
NM_139276.3(STAT3):c.1165A>G (p.Thr389Ala)
|
rs2081905517
|
|
|
NM_139276.3(STAT3):c.1182G>A (p.Met394Ile)
|
rs2144773624
|
|
|
NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys)
|
rs193922717
|
|
|
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg)
|
rs869312888
|
|
|
NM_139276.3(STAT3):c.1262G>A (p.Gly421Glu)
|
|
|
|
NM_139276.3(STAT3):c.1552C>T (p.Arg518Ter)
|
|
|
|
NM_139276.3(STAT3):c.1699A>G (p.Asn567Asp)
|
rs2144697778
|
|
|
NM_139276.3(STAT3):c.1772A>T (p.Lys591Met)
|
rs193922719
|
|
|
NM_139276.3(STAT3):c.1780G>A (p.Glu594Lys)
|
rs193922720
|
|
|
NM_139276.3(STAT3):c.1842_1849delinsTGAAA (p.Lys615_Gly617delinsGluArg)
|
|
|
|
NM_139276.3(STAT3):c.1859C>T (p.Thr620Ile)
|
rs1567708034
|
|
|
NM_139276.3(STAT3):c.1861T>G (p.Phe621Val)
|
|
|
|
NM_139276.3(STAT3):c.1909G>T (p.Val637Leu)
|
|
|
|
NM_139276.3(STAT3):c.1916C>T (p.Pro639Leu)
|
|
|
|
NM_139276.3(STAT3):c.1924A>G (p.Lys642Glu)
|
rs2144683205
|
|
|
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys)
|
rs193922721
|
|
|
NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn)
|
rs1555563717
|
|
|
NM_139276.3(STAT3):c.1979T>G (p.Met660Arg)
|
|
|
|
NM_139276.3(STAT3):c.2114A>G (p.Tyr705Cys)
|
|
|
|
NM_139276.3(STAT3):c.2123C>G (p.Thr708Ser)
|
rs2144622906
|
|
|
NM_139276.3(STAT3):c.2125A>G (p.Lys709Glu)
|
rs1555562364
|
|
|
NM_139276.3(STAT3):c.2131A>G (p.Ile711Val)
|
rs1131691937
|
|
|
NM_139276.3(STAT3):c.2132T>G (p.Ile711Ser)
|
rs1598381121
|
|
|
NM_139276.3(STAT3):c.2134T>C (p.Cys712Arg)
|
rs193922722
|
|
|
NM_139276.3(STAT3):c.2141C>A (p.Thr714Lys)
|
|
|
|
NM_139276.3(STAT3):c.832C>T (p.Arg278Cys)
|
rs1555566945
|
|
|
NM_139276.3(STAT3):c.861G>T (p.Leu287Phe)
|
rs2144832509
|
|
|
NM_139276.3(STAT3):c.870A>T (p.Lys290Asn)
|
rs1598415635
|
|
|
NM_139276.3(STAT3):c.986T>G (p.Met329Arg)
|
rs1555566820
|
|
|
NM_139276.3(STAT3):c.994C>T (p.His332Tyr)
|
rs2144827923
|
|
|
NM_139319.3(SLC17A8):c.634C>A (p.Pro212Thr)
|
rs1952754017
|
|
|
NM_139319.3(SLC17A8):c.903+1_903+6del
|
|
|
|
NM_144997.7(FLCN):c.1059del (p.Arg353fs)
|
|
|
|
NM_144997.7(FLCN):c.1063-2A>G
|
rs2144871276
|
|
|
NM_144997.7(FLCN):c.1140_1153del (p.Asp380fs)
|
|
|
|
NM_144997.7(FLCN):c.1176+1G>C
|
rs1555607929
|
|
|
NM_144997.7(FLCN):c.1176+2T>A
|
rs2046947920
|
|
|
NM_144997.7(FLCN):c.1176G>A (p.Arg392=)
|
|
|
|
NM_144997.7(FLCN):c.1177-5_1177-3del
|
rs767671406
|
|
|
NM_144997.7(FLCN):c.127G>T (p.Glu43Ter)
|
rs1555611494
|
|
|
NM_144997.7(FLCN):c.1300+2T>G
|
rs1064793766
|
|
|
NM_144997.7(FLCN):c.1301-1G>C
|
rs2046884079
|
|
|
NM_144997.7(FLCN):c.1301-2A>G
|
rs1555607296
|
|
|
NM_144997.7(FLCN):c.1301-2del
|
|
|
|
NM_144997.7(FLCN):c.1301-7_1304del
|
rs878854340
|
|
|
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs)
|
rs1131690841
|
|
|
NM_144997.7(FLCN):c.1389C>A (p.Tyr463Ter)
|
rs137852929
|
|
|
NM_144997.7(FLCN):c.1432+1G>A
|
rs755959303
|
|
|
NM_144997.7(FLCN):c.1433-1_1433delinsTC
|
|
|
|
NM_144997.7(FLCN):c.1433-2A>C
|
rs398124528
|
|
|
NM_144997.7(FLCN):c.1525GAG[1] (p.Glu510del)
|
rs879255681
|
|
|
NM_144997.7(FLCN):c.1538+2T>C
|
rs2144831005
|
|
|
NM_144997.7(FLCN):c.1539-1_1540del
|
|
|
|
NM_144997.7(FLCN):c.1539-2A>G
|
rs878855214
|
|
|
NM_144997.7(FLCN):c.1549del (p.Val517fs)
|
rs1597574368
|
|
|
NM_144997.7(FLCN):c.1616dup (p.Ala541fs)
|
rs2144810362
|
|
|
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)
|
rs1131690833
|
|
|
NM_144997.7(FLCN):c.189del (p.Ala64fs)
|
rs876660611
|
|
|
NM_144997.7(FLCN):c.249+1G>A
|
|
|
|
NM_144997.7(FLCN):c.249+1G>T
|
rs1060502369
|
|
|
NM_144997.7(FLCN):c.249+2del
|
|
|
|
NM_144997.7(FLCN):c.250-1G>A
|
rs786202081
|
|
|
NM_144997.7(FLCN):c.250-2A>G
|
rs398124533
|
|
|
NM_144997.7(FLCN):c.250-94_258delinsATTGCTGCAGGGCACCCGGGATATA
|
|
|
|
NM_144997.7(FLCN):c.256_269del (p.Ser87fs)
|
rs2145014205
|
|
|
NM_144997.7(FLCN):c.379dup (p.Arg127fs)
|
rs2145010446
|
|
|
NM_144997.7(FLCN):c.396+1G>A
|
rs2145009900
|
|
|
NM_144997.7(FLCN):c.446del (p.Gly149fs)
|
rs727504645
|
|
|
NM_144997.7(FLCN):c.44dup (p.Arg17fs)
|
rs1131690839
|
|
|
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del)
|
rs786203218
|
|
|
NM_144997.7(FLCN):c.553T>C (p.Ser185Pro)
|
rs876657646
|
|
|
NM_144997.7(FLCN):c.59_60delinsAA (p.Phe20Ter)
|
|
|
|
NM_144997.7(FLCN):c.619-2A>C
|
|
|
|
NM_144997.7(FLCN):c.762_763delinsTT (p.His255Tyr)
|
|
|
|
NM_144997.7(FLCN):c.763C>T (p.His255Tyr)
|
rs879255664
|
|
|
NM_144997.7(FLCN):c.871+1G>T
|
|
|
|
NM_144997.7(FLCN):c.871+2T>C
|
|
|
|
NM_144997.7(FLCN):c.872-1G>T
|
rs1567813248
|
|
|
NM_144997.7(FLCN):c.931_932dup (p.Val312fs)
|
|
|
|
NM_144997.7(FLCN):c.970C>T (p.Gln324Ter)
|
rs2144896021
|
|
|
NM_145861.4(EDARADD):c.359A>C (p.Asp120Ala)
|
rs2103042605
|
|
|
NM_145861.4(EDARADD):c.367G>A (p.Asp123Asn)
|
rs879255629
|
|
|
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys)
|
rs74315309
|
|
|
NM_145861.4(EDARADD):c.61+1G>C
|
|
|
|
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)
|
rs782175860
|
|
|
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr)
|
rs1135401822
|
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
|
NM_152296.5(ATP1A3):c.2516T>C (p.Leu839Pro)
|
|
|
|
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala)
|
rs1599705281
|
|
|
NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg)
|
rs2145946065
|
|
|
NM_152296.5(ATP1A3):c.265G>T (p.Gly89Cys)
|
|
|
|
NM_152296.5(ATP1A3):c.2780G>A (p.Cys927Tyr)
|
rs606231444
|
|
|
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)
|
rs398122887
|
|
|
NM_152296.5(ATP1A3):c.460A>G (p.Met154Val)
|
rs1135401821
|
|
|
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser)
|
rs864309572
|
|
|
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp)
|
rs863224847
|
|
|
NM_152594.3(SPRED1):c.32+2T>C
|
|
|
|
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter)
|
rs796052242
|
|
|
NM_152641.4(ARID2):c.109dup (p.Ile37fs)
|
rs2137959601
|
|
|
NM_152641.4(ARID2):c.1284_1288del (p.Met428fs)
|
rs2138132620
|
|
|
NM_152641.4(ARID2):c.1716-2A>G
|
rs113548014
|
|
|
NM_152641.4(ARID2):c.1746_1747del (p.Arg582fs)
|
|
|
|
NM_152641.4(ARID2):c.2659C>T (p.Gln887Ter)
|
|
|
|
NM_152641.4(ARID2):c.2828T>G (p.Ile943Ser)
|
rs2138166428
|
|
|
NM_152641.4(ARID2):c.2982del (p.Gln995fs)
|
|
|
|
NM_152641.4(ARID2):c.3037C>T (p.Gln1013Ter)
|
rs2138168418
|
|
|
NM_152641.4(ARID2):c.3601_3608del (p.Ile1201fs)
|
|
|
|
NM_152641.4(ARID2):c.3643C>T (p.Gln1215Ter)
|
|
|
|
NM_152641.4(ARID2):c.3927_3928del (p.Gly1310fs)
|
rs1592121202
|
|
|
NM_152641.4(ARID2):c.400dup (p.Gln134fs)
|
rs2138082983
|
|
|
NM_152641.4(ARID2):c.4126_4142del (p.Ile1376fs)
|
|
|
|
NM_152641.4(ARID2):c.4186C>T (p.Gln1396Ter)
|
|
|
|
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter)
|
rs772995852
|
|
|
NM_152641.4(ARID2):c.4942_4943del (p.Gln1648fs)
|
rs2138231889
|
|
|
NM_152641.4(ARID2):c.5147+1G>A
|
|
|
|
NM_152641.4(ARID2):c.542_552del (p.Thr181fs)
|
|
|
|
NM_152641.4(ARID2):c.791G>A (p.Trp264Ter)
|
|
|
|
NM_152641.4(ARID2):c.820C>T (p.Arg274Ter)
|
rs1943228378
|
|
|
NM_152641.4(ARID2):c.890C>T (p.Ser297Phe)
|
|
|
|
NM_152641.4(ARID2):c.988_1008del (p.Leu330_Gly336del)
|
|
|
|
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys)
|
rs1562789302
|
|
|
NM_153002.3(GPR156):c.1863dup (p.His622fs)
|
|
|
|
NM_153002.3(GPR156):c.600G>A (p.Thr200=)
|
|
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
|
NM_170682.4(P2RX2):c.121dup (p.Leu41fs)
|
|
|
|
NM_170707.4(LMNA):c.1068_1075dup (p.Tyr359fs)
|
|
|
|
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)
|
rs58436778
|
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
|
NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro)
|
rs1553265999
|
|
|
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)
|
rs57629361
|
|
|
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val)
|
rs60580541
|
|
|
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs)
|
rs2102898301
|
|
|
NM_170707.4(LMNA):c.168C>G (p.Asn56Lys)
|
rs2102817952
|
|
|
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)
|
rs918645468
|
|
|
NM_170707.4(LMNA):c.1961dup (p.Thr655fs)
|
rs863225024
|
|
|
NM_170707.4(LMNA):c.265C>T (p.Arg89Cys)
|
rs267607559
|
|
|
NM_170707.4(LMNA):c.305T>C (p.Leu102Pro)
|
rs1553262007
|
|
|
NM_170707.4(LMNA):c.409C>G (p.Leu137Val)
|
rs747998566
|
|
|
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)
|
rs199474724
|
|
|
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)
|
rs57207746
|
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
|
NM_170707.4(LMNA):c.822del (p.Arg275fs)
|
rs2102883169
|
|
|
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)
|
rs886043109
|
|
|
NM_173477.5(USH1G):c.812del (p.Pro271fs)
|
rs1567939793
|
|
|
NM_173500.4(TTBK2):c.1675del (p.Gln559fs)
|
rs2140757755
|
|
|
NM_173500.4(TTBK2):c.239T>A (p.Phe80Tyr)
|
rs778218227
|
|
|
NM_173500.4(TTBK2):c.322C>T (p.Gln108Ter)
|
rs2140986045
|
|
|
NM_173500.4(TTBK2):c.3466C>T (p.Arg1156Ter)
|
rs770444240
|
|
|
NM_176795.5(HRAS):c.488_497del (p.Leu163fs)
|
rs764755556
|
|
|
NM_177398.4(LMX1A):c.331del (p.Gln111fs)
|
rs2102637875
|
|
|
NM_177398.4(LMX1A):c.596G>A (p.Arg199Lys)
|
|
|
|
NM_177398.4(LMX1A):c.937C>T (p.Arg313Ter)
|
|
|
|
NM_178170.3(NEK8):c.1068G>A (p.Trp356Ter)
|
|
|
|
NM_178170.3(NEK8):c.1224_1227del
|
|
|
|
NM_178170.3(NEK8):c.1495C>T (p.Arg499Ter)
|
|
|
|
NM_178170.3(NEK8):c.1910G>A (p.Trp637Ter)
|
|
|
|
NM_178170.3(NEK8):c.763C>T (p.Gln255Ter)
|
|
|
|
NM_178170.3(NEK8):c.995_996del (p.Thr332fs)
|
|
|
|
NM_178335.3(CCDC50):c.802C>T (p.Gln268Ter)
|
|
|
|
NM_181458.4(PAX3):c.-84A>G
|
|
|
|
NM_181458.4(PAX3):c.1015_1019del (p.Val339fs)
|
|
|
|
NM_181458.4(PAX3):c.1021C>T (p.Gln341Ter)
|
rs1553572740
|
|
|
NM_181458.4(PAX3):c.1065C>A (p.Cys355Ter)
|
|
|
|
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg)
|
rs773327091
|
|
|
NM_181458.4(PAX3):c.1277C>A (p.Ser426Ter)
|
rs369886550
|
|
|
NM_181458.4(PAX3):c.136dup (p.Ile46fs)
|
rs1553594009
|
|
|
NM_181458.4(PAX3):c.1372_1375dup (p.Ser459fs)
|
rs1553568831
|
|
|
NM_181458.4(PAX3):c.142G>C (p.Gly48Arg)
|
rs1419548558
|
|
|
NM_181458.4(PAX3):c.142G>T (p.Gly48Cys)
|
rs1419548558
|
|
|
NM_181458.4(PAX3):c.149_160del (p.Pro50_Asn53del)
|
rs1553593965
|
|
|
NM_181458.4(PAX3):c.166C>T (p.Arg56Cys)
|
rs1279989885
|
|
|
NM_181458.4(PAX3):c.167G>T (p.Arg56Leu)
|
rs267606931
|
|
|
NM_181458.4(PAX3):c.173_175del (p.Lys58del)
|
|
|
|
NM_181458.4(PAX3):c.178G>T (p.Val60Leu)
|
|
|
|
NM_181458.4(PAX3):c.185T>C (p.Met62Thr)
|
|
|
|
NM_181458.4(PAX3):c.196G>C (p.Gly66Arg)
|
|
|
|
NM_181458.4(PAX3):c.202C>T (p.Arg68Trp)
|
rs2106203892
|
|
|
NM_181458.4(PAX3):c.210C>A (p.Cys70Ter)
|
rs1356246522
|
|
|
NM_181458.4(PAX3):c.214A>G (p.Ile72Val)
|
|
|
|
NM_181458.4(PAX3):c.214A>T (p.Ile72Phe)
|
|
|
|
NM_181458.4(PAX3):c.232G>T (p.Val78Leu)
|
rs1553593917
|
|
|
NM_181458.4(PAX3):c.239A>G (p.His80Arg)
|
rs1574771535
|
|
|
NM_181458.4(PAX3):c.240C>A (p.His80Gln)
|
|
|
|
NM_181458.4(PAX3):c.246C>A (p.Cys82Ter)
|
rs777297575
|
|
|
NM_181458.4(PAX3):c.246C>G (p.Cys82Trp)
|
rs777297575
|
|
|
NM_181458.4(PAX3):c.256A>T (p.Ile86Phe)
|
rs1559320299
|
|
|
NM_181458.4(PAX3):c.265A>G (p.Arg89Gly)
|
|
|
|
NM_181458.4(PAX3):c.269A>G (p.Tyr90Cys)
|
rs1553593874
|
|
|
NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter)
|
rs1695336858
|
|
|
NM_181458.4(PAX3):c.281G>T (p.Gly94Val)
|
rs2106203654
|
|
|
NM_181458.4(PAX3):c.357G>T (p.Glu119Asp)
|
|
|
|
NM_181458.4(PAX3):c.433C>T (p.Arg145Ter)
|
|
|
|
NM_181458.4(PAX3):c.452-1G>A
|
|
|
|
NM_181458.4(PAX3):c.452-2A>C
|
|
|
|
NM_181458.4(PAX3):c.452-9C>A
|
rs1379006499
|
|
|
NM_181458.4(PAX3):c.464del (p.Ser155fs)
|
rs1553592766
|
|
|
NM_181458.4(PAX3):c.482_484delinsTA (p.Lys161fs)
|
rs1553592757
|
|
|
NM_181458.4(PAX3):c.524dup (p.Glu176fs)
|
rs1553592713
|
|
|
NM_181458.4(PAX3):c.526del (p.Glu176fs)
|
|
|
|
NM_181458.4(PAX3):c.530_531insCT (p.Ala177_Glu178insTer)
|
rs1553592703
|
|
|
NM_181458.4(PAX3):c.602C>A (p.Ser201Ter)
|
|
|
|
NM_181458.4(PAX3):c.643_646del (p.Leu215fs)
|
|
|
|
NM_181458.4(PAX3):c.688C>A (p.Gln230Lys)
|
|
|
|
NM_181458.4(PAX3):c.692T>C (p.Leu231Pro)
|
rs1553575191
|
|
|
NM_181458.4(PAX3):c.727_739del (p.Tyr243fs)
|
rs1553575179
|
|
|
NM_181458.4(PAX3):c.755T>C (p.Leu252Pro)
|
rs1692619812
|
|
|
NM_181458.4(PAX3):c.768del (p.Lys257fs)
|
rs2106095025
|
|
|
NM_181458.4(PAX3):c.790C>T (p.Gln264Ter)
|
rs1553575159
|
|
|
NM_181458.4(PAX3):c.791A>C (p.Gln264Pro)
|
rs1553575157
|
|
|
NM_181458.4(PAX3):c.792G>C (p.Gln264His)
|
|
|
|
NM_181458.4(PAX3):c.797_798inv (p.Trp266Ser)
|
|
|
|
NM_181458.4(PAX3):c.804C>A (p.Ser268Arg)
|
|
|
|
NM_181458.4(PAX3):c.809G>A (p.Arg270His)
|
|
|
|
NM_181458.4(PAX3):c.809G>C (p.Arg270Pro)
|
rs2106074603
|
|
|
NM_181458.4(PAX3):c.86-1G>C
|
|
|
|
NM_181458.4(PAX3):c.86-2A>C
|
|
|
|
NM_181458.4(PAX3):c.86-2A>G
|
rs1553594069
|
|
|
NM_181458.4(PAX3):c.921del (p.Ser308fs)
|
rs1553572946
|
|
|
NM_181486.4(TBX5):c.1126C>T (p.Gln376Ter)
|
rs863223778
|
|
|
NM_181486.4(TBX5):c.1203G>A (p.Trp401Ter)
|
rs377649723
|
|
|
NM_181486.4(TBX5):c.148-2A>G
|
rs1565942511
|
|
|
NM_181486.4(TBX5):c.192G>A (p.Trp64Ter)
|
rs1555226581
|
|
|
NM_181486.4(TBX5):c.242+1G>A
|
rs2136421421
|
|
|
NM_181486.4(TBX5):c.242+4A>G
|
rs886044059
|
|
|
NM_181486.4(TBX5):c.242+5G>A
|
rs1555226575
|
|
|
NM_181486.4(TBX5):c.253C>T (p.Pro85Ser)
|
rs1565941579
|
|
|
NM_181486.4(TBX5):c.261C>G (p.Tyr87Ter)
|
|
|
|
NM_181486.4(TBX5):c.362G>T (p.Trp121Leu)
|
|
|
|
NM_181486.4(TBX5):c.394C>A (p.Pro132Thr)
|
|
|
|
NM_181486.4(TBX5):c.510+1G>T
|
rs1565940841
|
|
|
NM_181486.4(TBX5):c.510+5G>A
|
rs1555226301
|
|
|
NM_181486.4(TBX5):c.510+5G>C
|
rs1555226301
|
|
|
NM_181486.4(TBX5):c.664-2A>G
|
rs1565935458
|
|
|
NM_181486.4(TBX5):c.664-342G>T
|
|
|
|
NM_181486.4(TBX5):c.668C>T (p.Thr223Met)
|
rs1555225344
|
|
|
NM_181486.4(TBX5):c.677A>G (p.Lys226Arg)
|
rs1565935426
|
|
|
NM_181486.4(TBX5):c.704G>A (p.Gly235Glu)
|
rs1870765797
|
|
|
NM_181486.4(TBX5):c.755+2T>C
|
rs1565935314
|
|
|
NM_181486.4(TBX5):c.755G>C (p.Ser252Thr)
|
rs863223776
|
|
|
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer)
|
rs779841884
|
|
|
NM_182548.4(LHFPL5):c.526C>T (p.Arg176Cys)
|
|
|
|
NM_182760.4(SUMF1):c.1046G>C (p.Arg349Pro)
|
|
|
|
NM_182914.3(SYNE2):c.13156C>T (p.Gln4386Ter)
|
|
|
|
NM_182914.3(SYNE2):c.14503dup (p.Ser4835fs)
|
|
|
|
NM_182914.3(SYNE2):c.15533_15537del (p.Lys5178fs)
|
|
|
|
NM_182914.3(SYNE2):c.7681A>T (p.Lys2561Ter)
|
|
|
|
NM_182914.3(SYNE2):c.990_990+4del
|
|
|
|
NM_182961.4(SYNE1):c.10145+1G>A
|
rs1563391747
|
|
|
NM_182961.4(SYNE1):c.10608+1G>C
|
rs1590998146
|
|
|
NM_182961.4(SYNE1):c.10862T>C (p.Val3621Ala)
|
|
|
|
NM_182961.4(SYNE1):c.12079-2A>T
|
rs2154019221
|
|
|
NM_182961.4(SYNE1):c.12351+2T>C
|
rs2154000325
|
|
|
NM_182961.4(SYNE1):c.15438+2T>C
|
|
|
|
NM_182961.4(SYNE1):c.15837_15917+69del
|
rs2153937126
|
|
|
NM_182961.4(SYNE1):c.16237-2A>G
|
rs2153903647
|
|
|
NM_182961.4(SYNE1):c.16896+1G>T
|
|
|
|
NM_182961.4(SYNE1):c.18208-1G>A
|
rs2153725036
|
|
|
NM_182961.4(SYNE1):c.18382-1G>A
|
rs762660111
|
|
|
NM_182961.4(SYNE1):c.19260+1G>C
|
|
|
|
NM_182961.4(SYNE1):c.19260+1G>T
|
|
|
|
NM_182961.4(SYNE1):c.19260+2T>C
|
rs1588855714
|
|
|
NM_182961.4(SYNE1):c.19672C>T (p.Gln6558Ter)
|
rs2086610889
|
|
|
NM_182961.4(SYNE1):c.22044+1G>A
|
rs1372915935
|
|
|
NM_182961.4(SYNE1):c.22590-1G>A
|
rs2153409815
|
|
|
NM_182961.4(SYNE1):c.22824+2T>A
|
|
|
|
NM_182961.4(SYNE1):c.23146-1G>A
|
|
|
|
NM_182961.4(SYNE1):c.23301+1G>A
|
|
|
|
NM_182961.4(SYNE1):c.23628-1G>A
|
|
|
|
NM_182961.4(SYNE1):c.23790+1G>A
|
rs2153025020
|
|
|
NM_182961.4(SYNE1):c.2394+1G>A
|
|
|
|
NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)
|
|
|
|
NM_182961.4(SYNE1):c.25119+1G>A
|
rs1164612098
|
|
|
NM_182961.4(SYNE1):c.2568+1G>A
|
rs2154261629
|
|
|
NM_182961.4(SYNE1):c.2624del (p.Gly875fs)
|
|
|
|
NM_182961.4(SYNE1):c.3175A>T (p.Lys1059Ter)
|
|
|
|
NM_182961.4(SYNE1):c.67+2T>A
|
rs762743107
|
|
|
NM_182961.4(SYNE1):c.7642C>T (p.Gln2548Ter)
|
|
|
|
NM_182961.4(SYNE1):c.888+2T>C
|
|
|
|
NM_182961.4(SYNE1):c.9009+1G>A
|
|
|
|
NM_194248.3(OTOF):c.1550T>C (p.Leu517Pro)
|
rs1558490542
|
|
|
NM_194248.3(OTOF):c.1904T>A (p.Val635Asp)
|
rs1558488902
|
|
|
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)
|
rs80356590
|
|
|
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del)
|
rs1423777622
|
|
|
NM_194248.3(OTOF):c.3376dup (p.Ile1126fs)
|
rs1558480402
|
|
|
NM_194248.3(OTOF):c.4541A>G (p.Asp1514Gly)
|
rs2148028248
|
|
|
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter)
|
rs143939430
|
|
|
NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val)
|
rs1558464965
|
|
|
NM_198253.3(TERT):c.-124C>T
|
rs1242535815
|
|
|
NM_198253.3(TERT):c.1573+2T>A
|
|
|
|
NM_198253.3(TERT):c.1574-1G>A
|
rs1750106866
|
|
|
NM_198253.3(TERT):c.1574-1G>C
|
|
|
|
NM_198253.3(TERT):c.1769+2T>C
|
|
|
|
NM_198253.3(TERT):c.1951-2A>C
|
|
|
|
NM_198253.3(TERT):c.1990G>C (p.Val664Leu)
|
rs797046042
|
|
|
NM_198253.3(TERT):c.2053G>A (p.Asp685Asn)
|
rs1579575848
|
|
|
NM_198253.3(TERT):c.2105C>G (p.Pro702Arg)
|
|
|
|
NM_198253.3(TERT):c.2130+1G>A
|
|
|
|
NM_198253.3(TERT):c.2130+1G>C
|
|
|
|
NM_198253.3(TERT):c.2130+2T>G
|
|
|
|
NM_198253.3(TERT):c.2131-2A>G
|
|
|
|
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr)
|
rs387907249
|
|
|
NM_198253.3(TERT):c.219+1G>A
|
rs199422309
|
|
|
NM_198253.3(TERT):c.219+2T>A
|
|
|
|
NM_198253.3(TERT):c.2286+1G>A
|
rs1749780301
|
|
|
NM_198253.3(TERT):c.2286+1G>T
|
|
|
|
NM_198253.3(TERT):c.2329G>A (p.Val777Met)
|
rs1554040129
|
|
|
NM_198253.3(TERT):c.2382+1G>C
|
rs1749089374
|
|
|
NM_198253.3(TERT):c.2382+1G>T
|
|
|
|
NM_198253.3(TERT):c.2382+235_2453del
|
|
|
|
NM_198253.3(TERT):c.2591T>C (p.Leu864Pro)
|
rs1561194110
|
|
|
NM_198253.3(TERT):c.2594G>T (p.Arg865Leu)
|
|
|
|
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr)
|
rs1748613571
|
|
|
NM_198253.3(TERT):c.2654+1G>C
|
|
|
|
NM_198253.3(TERT):c.2912G>A (p.Arg971His)
|
rs1748153358
|
|
|
NM_198253.3(TERT):c.2935C>T (p.Arg979Trp)
|
rs199422305
|
|
|
NM_198253.3(TERT):c.2936G>A (p.Arg979Gln)
|
rs765566930
|
|
|
NM_198253.3(TERT):c.293C>A (p.Ala98Asp)
|
|
|
|
NM_198253.3(TERT):c.2947C>T (p.His983Tyr)
|
rs1554038803
|
|
|
NM_198253.3(TERT):c.2970+1G>A
|
|
|
|
NM_198253.3(TERT):c.2970+2T>G
|
rs2126584187
|
|
|
NM_198253.3(TERT):c.3026C>T (p.Ala1009Val)
|
rs866575708
|
|
|
NM_198253.3(TERT):c.3032+1G>C
|
|
|
|
NM_198253.3(TERT):c.3118G>A (p.Ala1040Thr)
|
rs770144114
|
|
|
NM_198253.3(TERT):c.3157+1G>T
|
rs2126562296
|
|
|
NM_198253.3(TERT):c.3158-2A>C
|
|
|
|
NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser)
|
rs938938578
|
|
|
NM_198253.3(TERT):c.329G>C (p.Gly110Ala)
|
rs1751262771
|
|
|
NM_198253.3(TERT):c.329G>T (p.Gly110Val)
|
|
|
|
NM_198253.3(TERT):c.336dup (p.Glu113fs)
|
rs1060502990
|
|
|
NM_198253.3(TERT):c.359G>C (p.Arg120Pro)
|
rs1554043083
|
|
|
NM_198253.3(TERT):c.902G>T (p.Arg301Leu)
|
rs1268051204
|
|
|
NM_198334.3(GANAB):c.12_38+2del
|
|
|
|
NM_198334.3(GANAB):c.1364_1370del (p.Arg455fs)
|
|
|
|
NM_198334.3(GANAB):c.1429T>C (p.Tyr477His)
|
|
|
|
NM_198334.3(GANAB):c.1561_1565delinsGGGG (p.Trp521fs)
|
|
|
|
NM_198334.3(GANAB):c.1738-1G>A
|
|
|
|
NM_198334.3(GANAB):c.174_175del (p.Pro59fs)
|
|
|
|
NM_198334.3(GANAB):c.1786C>T (p.Arg596Cys)
|
rs1565093675
|
|
|
NM_198334.3(GANAB):c.1940A>G (p.Asp647Gly)
|
rs1565092566
|
|
|
NM_198334.3(GANAB):c.199_200del (p.Leu67fs)
|
|
|
|
NM_198334.3(GANAB):c.2092C>T (p.Arg698Ter)
|
|
|
|
NM_198334.3(GANAB):c.2330_2331delinsG (p.Tyr777fs)
|
|
|
|
NM_198334.3(GANAB):c.2336_2339del (p.Ile779fs)
|
|
|
|
NM_198334.3(GANAB):c.2434C>T (p.Arg812Ter)
|
|
|
|
NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp)
|
rs879255643
|
|
|
NM_198334.3(GANAB):c.2496_2502del (p.Ser835fs)
|
|
|
|
NM_198334.3(GANAB):c.2590C>T (p.Arg864Ter)
|
rs1210158408
|
|
|
NM_198334.3(GANAB):c.274C>T (p.Gln92Ter)
|
|
|
|
NM_198334.3(GANAB):c.283C>T (p.Gln95Ter)
|
|
|
|
NM_198334.3(GANAB):c.328C>T (p.Arg110Ter)
|
|
|
|
NM_198334.3(GANAB):c.334C>T (p.Arg112Ter)
|
|
|
|
NM_198334.3(GANAB):c.38G>A (p.Arg13Gln)
|
rs1565116806
|
|
|
NM_198334.3(GANAB):c.490C>T (p.Arg164Ter)
|
rs754785664
|
|
|
NM_198334.3(GANAB):c.516_517delinsAT (p.Arg173Ter)
|
|
|
|
NM_198334.3(GANAB):c.517C>T (p.Arg173Ter)
|
|
|
|
NM_198334.3(GANAB):c.560+444A>C
|
rs1943838983
|
|
|
NM_198334.3(GANAB):c.644_645del (p.Gln215fs)
|
|
|
|
NM_198334.3(GANAB):c.677G>A (p.Trp226Ter)
|
|
|
|
NM_198334.3(GANAB):c.842dup (p.Asn281fs)
|
|
|
|
NM_198880.3(QRICH1):c.1147del (p.Leu383fs)
|
|
|
|
NM_198880.3(QRICH1):c.1180C>G (p.His394Asp)
|
rs2106903855
|
|
|
NM_198880.3(QRICH1):c.1234del (p.Thr412fs)
|
|
|
|
NM_198880.3(QRICH1):c.1453T>G (p.Trp485Gly)
|
|
|
|
NM_198880.3(QRICH1):c.1579G>A (p.Gly527Arg)
|
rs2106863254
|
|
|
NM_198880.3(QRICH1):c.1649A>G (p.Tyr550Cys)
|
rs2106862882
|
|
|
NM_198880.3(QRICH1):c.1655del (p.Phe552fs)
|
rs2106862871
|
|
|
NM_198880.3(QRICH1):c.1720T>G (p.Tyr574Asp)
|
rs2106855069
|
|
|
NM_198880.3(QRICH1):c.1786+1G>A
|
rs2106854800
|
|
|
NM_198880.3(QRICH1):c.1807G>T (p.Val603Leu)
|
rs2093252866
|
|
|
NM_198880.3(QRICH1):c.1884C>G (p.Phe628Leu)
|
rs2106813640
|
|
|
NM_198880.3(QRICH1):c.2159G>A (p.Arg720Gln)
|
|
|
|
NM_198880.3(QRICH1):c.2207G>A (p.Ser736Asn)
|
rs2093229974
|
|
|
NM_198880.3(QRICH1):c.2280_2281del (p.Ile760fs)
|
|
|
|
NM_198880.3(QRICH1):c.292C>T (p.Gln98Ter)
|
|
|
|
NM_198880.3(QRICH1):c.625C>T (p.Gln209Ter)
|
|
|
|
NM_198880.3(QRICH1):c.68C>T (p.Pro23Leu)
|
rs2106983539
|
|
|
NM_198880.3(QRICH1):c.756G>T (p.Met252Ile)
|
rs2106905658
|
|
|
NM_198880.3(QRICH1):c.851C>T (p.Pro284Leu)
|
rs2093408453
|
|
|
NM_198880.3(QRICH1):c.914dup (p.Gly306fs)
|
rs2106905056
|
|
|
NM_198880.3(QRICH1):c.961del (p.Asp321fs)
|
rs2106904870
|
|
|
NM_198880.3:c.309+9376_1339-2808dup
|
|
|
|
NM_198994.2(TGM6):c.425_435del11
|
rs1222726216
|
|
|
NM_198994.3(TGM6):c.110C>A (p.Ser37Ter)
|
|
|
|
NM_198994.3(TGM6):c.850+1G>A
|
|
|
|
NM_199280.4(TOGARAM2):c.1543C>T (p.Gln515Ter)
|
|
|
|
NM_203290.4(POLR1C):c.232C>T (p.Arg78Ter)
|
rs1793021342
|
|
|
NM_203290.4(POLR1C):c.243_246del (p.Ala82fs)
|
|
|
|
NM_203290.4(POLR1C):c.247G>T (p.Glu83Ter)
|
|
|
|
NM_203290.4(POLR1C):c.250-8_253delinsA
|
|
|
|
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile)
|
rs1554131502
|
|
|
NM_203290.4(POLR1C):c.383-2A>G
|
|
|
|
NM_203290.4(POLR1C):c.420dup (p.Arg141fs)
|
|
|
|
NM_203290.4(POLR1C):c.525del (p.Thr174_Trp175insTer)
|
rs780663139
|
|
|
NM_203290.4(POLR1C):c.53del (p.Glu18fs)
|
|
|
|
NM_203290.4(POLR1C):c.595A>T (p.Ile199Phe)
|
|
|
|
NM_203290.4(POLR1C):c.696_712del (p.Ser232fs)
|
|
|
|
NM_203290.4(POLR1C):c.699C>A (p.Tyr233Ter)
|
|
|
|
NM_203290.4(POLR1C):c.70-2A>G
|
|
|
|
NM_203290.4(POLR1C):c.763_776del (p.Arg255fs)
|
|
|
|
NM_203290.4(POLR1C):c.793C>T (p.Gln265Ter)
|
rs2127691140
|
|
|
NM_203290.4(POLR1C):c.796del (p.Glu266fs)
|
|
|
|
NM_203290.4(POLR1C):c.880AAG[1] (p.Lys295del)
|
rs875989826
|
|
|
NM_203290.4(POLR1C):c.901C>T (p.Arg301Trp)
|
|
|
|
NM_203290.4(POLR1C):c.922+1G>C
|
|
|
|
NM_203290.4(POLR1C):c.943del (p.Val315fs)
|
|
|
|
NM_205768.3(ZBTB18):c.1147del (p.Leu383fs)
|
rs1698428309
|
|
|
NM_205768.3(ZBTB18):c.1207del (p.Arg403fs)
|
rs2148557361
|
|
|
NM_205768.3(ZBTB18):c.1210G>A (p.Glu404Lys)
|
rs2148557375
|
|
|
NM_205768.3(ZBTB18):c.1283T>G (p.Phe428Cys)
|
rs1572531730
|
|
|
NM_205768.3(ZBTB18):c.1301T>C (p.Leu434Pro)
|
rs1553270599
|
|
|
NM_205768.3(ZBTB18):c.1306C>T (p.Arg436Cys)
|
rs1698434969
|
|
|
NM_205768.3(ZBTB18):c.1307G>A (p.Arg436His)
|
rs1572531765
|
|
|
NM_205768.3(ZBTB18):c.1309C>T (p.His437Tyr)
|
|
|
|
NM_205768.3(ZBTB18):c.1355G>A (p.Cys452Tyr)
|
rs1572531830
|
|
|
NM_205768.3(ZBTB18):c.1378C>T (p.His460Tyr)
|
rs1698437148
|
|
|
NM_205768.3(ZBTB18):c.1391G>C (p.Arg464Pro)
|
rs1558149913
|
|
|
NM_205768.3(ZBTB18):c.1391G>T (p.Arg464Leu)
|
rs1558149913
|
|
|
NM_205768.3(ZBTB18):c.1403T>C (p.Val468Ala)
|
rs2148557671
|
|
|
NM_205768.3(ZBTB18):c.1411C>T (p.Arg471Cys)
|
|
|
|
NM_205768.3(ZBTB18):c.1423C>G (p.His475Asp)
|
|
|
|
NM_205768.3(ZBTB18):c.142C>G (p.Arg48Gly)
|
rs1135401770
|
|
|
NM_205768.3(ZBTB18):c.1454C>T (p.Thr485Met)
|
|
|
|
NM_205768.3(ZBTB18):c.1465G>T (p.Asp489Tyr)
|
rs1572532005
|
|
|
NM_205768.3(ZBTB18):c.1473C>G (p.Tyr491Ter)
|
rs376898131
|
|
|
NM_205768.3(ZBTB18):c.1478A>G (p.His493Arg)
|
|
|
|
NM_205768.3(ZBTB18):c.1493A>C (p.His498Pro)
|
rs1553270640
|
|
|
NM_205768.3(ZBTB18):c.160T>C (p.Cys54Arg)
|
rs869312689
|
|
|
NM_205768.3(ZBTB18):c.204_205del (p.Asp70fs)
|
|
|
|
NM_205768.3(ZBTB18):c.244_246dup (p.Pro82_Ala83insPro)
|
|
|
|
NM_205768.3(ZBTB18):c.306del (p.Ile103fs)
|
|
|
|
NM_205768.3(ZBTB18):c.686_687del (p.Glu229fs)
|
|
|
|
NM_205768.3(ZBTB18):c.764_765dup (p.Ser256fs)
|
|
|
|
NM_205768.3(ZBTB18):c.922G>T (p.Glu308Ter)
|
rs763141634
|
|
|
NM_206933.4(USH2A):c.10724G>T (p.Cys3575Phe)
|
|
|
|
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)
|
rs767797828
|
|
|
NM_206933.4(USH2A):c.7120+1475A>G
|
|
|
|
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe)
|
rs773779627
|
|
|
NM_207034.3(EDN3):c.334C>A (p.His112Asn)
|
rs977075341
|
|
|
NP_009225.1(BRCA1):p.Trp1837Arg
|
|
|
|
NR_002717.2:n.894CTA[(3)]CTG[(317_330)]
|
|
|
|
Single allele
|
|
|