NM_000278.5(PAX2):c.909A>C (p.Pro303=)
|
rs1800898
|
0.40586
|
NM_000278.5(PAX2):c.798C>T (p.Asn266=)
|
rs1800897
|
0.12916
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
NM_000278.5(PAX2):c.932C>T (p.Ala311Val)
|
rs78738655
|
0.00126
|
NM_000492.4(CFTR):c.3717+45G>A
|
rs145743767
|
0.00058
|
NM_000492.4(CFTR):c.1766+73T>G
|
rs397508299
|
0.00036
|
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn)
|
rs201759207
|
0.00029
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_000477.7(ALB):c.1669G>A (p.Val557Met)
|
rs78284052
|
0.00017
|
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)
|
rs149353983
|
0.00010
|
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter)
|
rs137853283
|
0.00009
|
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp)
|
rs397508814
|
0.00009
|
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)
|
rs199791061
|
0.00008
|
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys)
|
rs397508430
|
0.00008
|
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)
|
rs397508272
|
0.00006
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile)
|
rs397508636
|
0.00006
|
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg)
|
rs397508788
|
0.00006
|
NM_000492.4(CFTR):c.842T>C (p.Met281Thr)
|
rs397508802
|
0.00006
|
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys)
|
rs112162204
|
0.00006
|
NM_001145026.2(PTPRQ):c.715A>G (p.Arg239Gly)
|
rs281865414
|
0.00006
|
NM_020485.8(RHCE):c.307C>T (p.Pro103Ser)
|
rs676785
|
0.00006
|
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)
|
rs137853285
|
0.00005
|
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln)
|
rs759580799
|
0.00005
|
NM_000477.7(ALB):c.228_229del (p.Val78fs)
|
rs75152012
|
0.00005
|
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)
|
rs397508553
|
0.00005
|
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)
|
rs397508293
|
0.00004
|
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)
|
rs397508332
|
0.00004
|
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile)
|
rs397508397
|
0.00004
|
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu)
|
rs397508542
|
0.00004
|
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)
|
rs201958172
|
0.00004
|
NM_000492.4(CFTR):c.3964-28G>A
|
rs397508651
|
0.00004
|
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)
|
rs397508818
|
0.00004
|
NM_020485.8(RHCE):c.178C>A (p.Leu60Ile)
|
rs181860403
|
0.00004
|
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
|
rs73215912
|
0.00003
|
NM_000492.4(CFTR):c.1766G>C (p.Ser589Thr)
|
rs397508300
|
0.00003
|
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)
|
rs201124247
|
0.00003
|
NM_000492.4(CFTR):c.2476G>A (p.Glu826Lys)
|
rs397508381
|
0.00003
|
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)
|
rs397508463
|
0.00003
|
NM_000492.4(CFTR):c.3458T>A (p.Val1153Glu)
|
rs397508567
|
0.00003
|
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe)
|
rs145545286
|
0.00003
|
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)
|
rs397508670
|
0.00003
|
NM_000492.4(CFTR):c.561C>A (p.Asn187Lys)
|
rs397508754
|
0.00003
|
NM_000492.4(CFTR):c.653T>A (p.Leu218Ter)
|
rs397508777
|
0.00003
|
NM_000059.4(BRCA2):c.72A>T (p.Leu24Phe)
|
rs397507909
|
0.00002
|
NM_000477.7(ALB):c.1300C>T (p.Arg434Cys)
|
rs78575701
|
0.00002
|
NM_000477.7(ALB):c.412C>T (p.Arg138Ter)
|
rs77238412
|
0.00002
|
NM_000492.4(CFTR):c.1405A>G (p.Met469Val)
|
rs397508203
|
0.00002
|
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly)
|
rs397508270
|
0.00002
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)
|
rs367850319
|
0.00002
|
NM_000492.4(CFTR):c.627A>G (p.Ala209=)
|
rs397508773
|
0.00002
|
NM_000059.4(BRCA2):c.3264_3265insTT (p.Gln1089fs)
|
rs80359380
|
0.00001
|
NM_000059.4(BRCA2):c.5188A>T (p.Asn1730Tyr)
|
rs397507770
|
0.00001
|
NM_000059.4(BRCA2):c.6235del (p.Val2079fs)
|
rs397507835
|
0.00001
|
NM_000059.4(BRCA2):c.8414T>C (p.Leu2805Ser)
|
rs397507983
|
0.00001
|
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)
|
rs796052122
|
0.00001
|
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys)
|
rs397508147
|
0.00001
|
NM_000492.4(CFTR):c.1407G>T (p.Met469Ile)
|
rs143218779
|
0.00001
|
NM_000492.4(CFTR):c.1478A>G (p.Gln493Arg)
|
rs397508214
|
0.00001
|
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr)
|
rs397508220
|
0.00001
|
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr)
|
rs397508222
|
0.00001
|
NM_000492.4(CFTR):c.1585-9412A>G
|
rs397508229
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.1679+5A>G
|
rs397508264
|
0.00001
|
NM_000492.4(CFTR):c.1811C>G (p.Thr604Ser)
|
rs397508308
|
0.00001
|
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)
|
rs397508310
|
0.00001
|
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr)
|
rs201978662
|
0.00001
|
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)
|
rs397508375
|
0.00001
|
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly)
|
rs377447726
|
0.00001
|
NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys)
|
rs397508418
|
0.00001
|
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)
|
rs369521395
|
0.00001
|
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)
|
rs397508436
|
0.00001
|
NM_000492.4(CFTR):c.2846A>T (p.His949Leu)
|
rs397508444
|
0.00001
|
NM_000492.4(CFTR):c.2876C>T (p.Ala959Val)
|
rs397508448
|
0.00001
|
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)
|
rs141033578
|
0.00001
|
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu)
|
rs397508467
|
0.00001
|
NM_000492.4(CFTR):c.2981T>G (p.Phe994Cys)
|
rs397508469
|
0.00001
|
NM_000492.4(CFTR):c.302T>G (p.Leu101Ter)
|
rs397508484
|
0.00001
|
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)
|
rs397508488
|
0.00001
|
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)
|
rs397508498
|
0.00001
|
NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter)
|
rs397508500
|
0.00001
|
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys)
|
rs397508533
|
0.00001
|
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)
|
rs144781064
|
0.00001
|
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser)
|
rs397508606
|
0.00001
|
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)
|
rs397508609
|
0.00001
|
NM_000492.4(CFTR):c.3844T>C (p.Trp1282Arg)
|
rs397508616
|
0.00001
|
NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter)
|
rs397508643
|
0.00001
|
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)
|
rs397508699
|
0.00001
|
NM_000492.4(CFTR):c.4312C>T (p.Arg1438Trp)
|
rs397508711
|
0.00001
|
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr)
|
rs397508725
|
0.00001
|
NM_000492.4(CFTR):c.625G>T (p.Ala209Ser)
|
rs397508772
|
0.00001
|
NM_000492.4(CFTR):c.721G>A (p.Gly241Arg)
|
rs397508789
|
0.00001
|
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)
|
rs397508804
|
0.00001
|
NM_000492.4(CFTR):c.913T>G (p.Phe305Val)
|
rs201885470
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NM_024598.4(USB1):c.243G>A (p.Trp81Ter)
|
rs137853973
|
0.00001
|
HLA-B, HLA-B*5801
|
|
|
NC_000014.9:g.105854468A>C
|
rs267606871
|
|
NC_000014.9:g.105855107C>T
|
rs281865422
|
|
NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu)
|
rs267606632
|
|
NM_000020.3(ACVRL1):c.145G>C (p.Ala49Pro)
|
rs267606633
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)
|
rs137853287
|
|
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)
|
rs137853284
|
|
NM_000053.4(ATP7B):c.2337G>A (p.Trp779Ter)
|
rs137853282
|
|
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs)
|
rs137853281
|
|
NM_000059.4(BRCA2):c.-33T>C
|
rs397507566
|
|
NM_000059.4(BRCA2):c.10071del (p.Gly3358fs)
|
rs397507567
|
|
NM_000059.4(BRCA2):c.1082del (p.Asn361fs)
|
rs397507569
|
|
NM_000059.4(BRCA2):c.1176_1180del (p.Cys393fs)
|
rs397507574
|
|
NM_000059.4(BRCA2):c.1241T>A (p.Leu414Ter)
|
rs397507576
|
|
NM_000059.4(BRCA2):c.1310_1311del (p.Lys437fs)
|
rs397507578
|
|
NM_000059.4(BRCA2):c.1335_1338del (p.Leu446fs)
|
rs397507580
|
|
NM_000059.4(BRCA2):c.133G>T (p.Glu45Ter)
|
rs397507581
|
|
NM_000059.4(BRCA2):c.1389del (p.Val464fs)
|
rs397507584
|
|
NM_000059.4(BRCA2):c.1392_1393insT (p.Val465fs)
|
rs397507585
|
|
NM_000059.4(BRCA2):c.1423G>T (p.Glu475Ter)
|
rs397507587
|
|
NM_000059.4(BRCA2):c.1449_1451delinsTTAC (p.Val484fs)
|
rs397507589
|
|
NM_000059.4(BRCA2):c.1496A>G (p.Gln499Arg)
|
rs397507590
|
|
NM_000059.4(BRCA2):c.158A>G (p.Lys53Arg)
|
rs397507595
|
|
NM_000059.4(BRCA2):c.1596_1597del (p.Glu532fs)
|
rs80359292
|
|
NM_000059.4(BRCA2):c.1612_1613del (p.Ser538fs)
|
rs397507597
|
|
NM_000059.4(BRCA2):c.1646_1649del (p.Lys549fs)
|
rs397507599
|
|
NM_000059.4(BRCA2):c.172G>T (p.Glu58Ter)
|
rs397507603
|
|
NM_000059.4(BRCA2):c.1813_1814insC (p.Ile605fs)
|
rs80359308
|
|
NM_000059.4(BRCA2):c.1851dup (p.Ala618fs)
|
rs397507610
|
|
NM_000059.4(BRCA2):c.1855dup (p.Gln619fs)
|
rs397507611
|
|
NM_000059.4(BRCA2):c.1881del (p.Pro628fs)
|
rs397507612
|
|
NM_000059.4(BRCA2):c.1901del (p.Ala634fs)
|
rs397507614
|
|
NM_000059.4(BRCA2):c.226T>C (p.Ser76Pro)
|
rs397507622
|
|
NM_000059.4(BRCA2):c.2372C>A (p.Ser791Ter)
|
rs397507624
|
|
NM_000059.4(BRCA2):c.241T>C (p.Phe81Leu)
|
rs80358507
|
|
NM_000059.4(BRCA2):c.246dup (p.Glu83fs)
|
rs397507630
|
|
NM_000059.4(BRCA2):c.2596_2599del (p.Glu866fs)
|
rs397507633
|
|
NM_000059.4(BRCA2):c.2612delinsTTT (p.Ser871fs)
|
rs397507635
|
|
NM_000059.4(BRCA2):c.2637_2638del (p.Glu880fs)
|
rs397507636
|
|
NM_000059.4(BRCA2):c.2773dup (p.Ser925fs)
|
rs397507640
|
|
NM_000059.4(BRCA2):c.2774_2775del (p.Ser925fs)
|
rs397507641
|
|
NM_000059.4(BRCA2):c.2828_2831del (p.Ile943fs)
|
rs397507643
|
|
NM_000059.4(BRCA2):c.2950G>T (p.Glu984Ter)
|
rs397507648
|
|
NM_000059.4(BRCA2):c.2990T>A (p.Leu997Ter)
|
rs397507649
|
|
NM_000059.4(BRCA2):c.3014_3015dup (p.Gly1006fs)
|
rs397507650
|
|
NM_000059.4(BRCA2):c.316+4del
|
rs397507656
|
|
NM_000059.4(BRCA2):c.316+5G>C
|
rs81002840
|
|
NM_000059.4(BRCA2):c.3235del (p.Ser1079fs)
|
rs397507660
|
|
NM_000059.4(BRCA2):c.3296C>G (p.Ser1099Ter)
|
rs397507663
|
|
NM_000059.4(BRCA2):c.3366_3367del (p.Gln1124fs)
|
rs397507665
|
|
NM_000059.4(BRCA2):c.3449_3450insAG (p.Ile1151fs)
|
rs1555283246
|
|
NM_000059.4(BRCA2):c.3531_3534del (p.Asp1177fs)
|
rs397507673
|
|
NM_000059.4(BRCA2):c.3536G>A (p.Ser1179Asn)
|
rs397507674
|
|
NM_000059.4(BRCA2):c.3556_3565del (p.Val1186fs)
|
rs397507676
|
|
NM_000059.4(BRCA2):c.364del (p.Thr122fs)
|
rs397507680
|
|
NM_000059.4(BRCA2):c.3773_3774del (p.Ile1258fs)
|
rs397507685
|
|
NM_000059.4(BRCA2):c.3830del (p.Asn1277fs)
|
rs397507689
|
|
NM_000059.4(BRCA2):c.3863dup (p.Asn1288fs)
|
rs397507693
|
|
NM_000059.4(BRCA2):c.3895_3897del (p.Glu1299del)
|
rs397507696
|
|
NM_000059.4(BRCA2):c.3929del (p.Thr1310fs)
|
rs397507699
|
|
NM_000059.4(BRCA2):c.4097_4098insCATC (p.Lys1367fs)
|
rs397507704
|
|
NM_000059.4(BRCA2):c.4101dup (p.Leu1368fs)
|
rs397507705
|
|
NM_000059.4(BRCA2):c.4136dup (p.Ile1380fs)
|
rs397507708
|
|
NM_000059.4(BRCA2):c.4536_4539dup (p.Glu1514Ter)
|
rs397507724
|
|
NM_000059.4(BRCA2):c.4544del (p.Lys1515fs)
|
rs397507725
|
|
NM_000059.4(BRCA2):c.4566G>T (p.Leu1522Phe)
|
rs397507729
|
|
NM_000059.4(BRCA2):c.4593del (p.Val1532fs)
|
rs397507731
|
|
NM_000059.4(BRCA2):c.464_468del (p.Arg155fs)
|
rs397507735
|
|
NM_000059.4(BRCA2):c.466_467insT (p.Asp156fs)
|
rs397507736
|
|
NM_000059.4(BRCA2):c.4684C>T (p.Gln1562Ter)
|
rs397507737
|
|
NM_000059.4(BRCA2):c.4695_4698dup (p.Leu1567fs)
|
rs397507738
|
|
NM_000059.4(BRCA2):c.4731dup (p.Leu1578fs)
|
rs397507740
|
|
NM_000059.4(BRCA2):c.483T>G (p.Cys161Trp)
|
rs397507745
|
|
NM_000059.4(BRCA2):c.4848_4849del (p.Leu1616_Ser1617insTer)
|
rs397507746
|
|
NM_000059.4(BRCA2):c.488_489del (p.Ser163fs)
|
rs397507747
|
|
NM_000059.4(BRCA2):c.4917del (p.His1640fs)
|
rs397507749
|
|
NM_000059.4(BRCA2):c.4926_4935del (p.Asn1642fs)
|
rs397507750
|
|
NM_000059.4(BRCA2):c.4999dup (p.Ser1667fs)
|
rs397507754
|
|
NM_000059.4(BRCA2):c.5045del (p.Ser1682fs)
|
rs397507756
|
|
NM_000059.4(BRCA2):c.5115_5119del (p.Asn1706fs)
|
rs397507759
|
|
NM_000059.4(BRCA2):c.5131del (p.Tyr1710_Val1711insTer)
|
rs397507760
|
|
NM_000059.4(BRCA2):c.516+1dup
|
rs397507763
|
|
NM_000059.4(BRCA2):c.5164_5168dup (p.Ile1724fs)
|
rs397507765
|
|
NM_000059.4(BRCA2):c.5171del (p.Ile1724fs)
|
rs397507767
|
|
NM_000059.4(BRCA2):c.5250del (p.Tyr1751fs)
|
rs397507776
|
|
NM_000059.4(BRCA2):c.5291C>G (p.Ser1764Ter)
|
rs397507778
|
|
NM_000059.4(BRCA2):c.5389_5390del (p.Ala1797fs)
|
rs397507783
|
|
NM_000059.4(BRCA2):c.5433_5436del (p.Glu1811fs)
|
rs397507784
|
|
NM_000059.4(BRCA2):c.5580_5584del (p.Lys1860fs)
|
rs397507789
|
|
NM_000059.4(BRCA2):c.5650_5659del (p.Ile1884fs)
|
rs397507794
|
|
NM_000059.4(BRCA2):c.5683G>C (p.Glu1895Gln)
|
rs146351301
|
|
NM_000059.4(BRCA2):c.572A>G (p.Asp191Gly)
|
rs397507798
|
|
NM_000059.4(BRCA2):c.5774_5777del (p.Gln1925fs)
|
rs397507804
|
|
NM_000059.4(BRCA2):c.5799_5800del (p.Asn1933fs)
|
rs397507807
|
|
NM_000059.4(BRCA2):c.5829_5830del (p.Lys1944fs)
|
rs397507808
|
|
NM_000059.4(BRCA2):c.5835_5843dup (p.Cys1948Ter)
|
rs397507809
|
|
NM_000059.4(BRCA2):c.5851_5854dup (p.Leu1952Ter)
|
rs80359543
|
|
NM_000059.4(BRCA2):c.5944del (p.Ser1982fs)
|
rs796460349
|
|
NM_000059.4(BRCA2):c.5946_5950del (p.Ser1982fs)
|
rs397507813
|
|
NM_000059.4(BRCA2):c.595_599dup (p.Pro201fs)
|
rs397507816
|
|
NM_000059.4(BRCA2):c.5964_5965del (p.Ser1989fs)
|
rs397507817
|
|
NM_000059.4(BRCA2):c.6018T>A (p.Ser2006Arg)
|
rs397507821
|
|
NM_000059.4(BRCA2):c.602C>G (p.Pro201Arg)
|
rs397507822
|
|
NM_000059.4(BRCA2):c.6060_6063del (p.Glu2020fs)
|
rs397507825
|
|
NM_000059.4(BRCA2):c.617C>G (p.Ser206Cys)
|
rs397507832
|
|
NM_000059.4(BRCA2):c.6206del (p.Ile2068_Leu2069insTer)
|
rs397507834
|
|
NM_000059.4(BRCA2):c.6276del (p.His2093fs)
|
rs397507837
|
|
NM_000059.4(BRCA2):c.631+2T>C
|
rs81002899
|
|
NM_000059.4(BRCA2):c.632T>C (p.Val211Ala)
|
rs397507843
|
|
NM_000059.4(BRCA2):c.6384A>C (p.Lys2128Asn)
|
rs397507847
|
|
NM_000059.4(BRCA2):c.6390dup (p.Lys2131Ter)
|
rs397507848
|
|
NM_000059.4(BRCA2):c.6406_6407del (p.Leu2136fs)
|
rs397507850
|
|
NM_000059.4(BRCA2):c.6428del (p.Ser2142_Ser2143insTer)
|
rs397507854
|
|
NM_000059.4(BRCA2):c.6437_6440del (p.Asn2146fs)
|
rs397507855
|
|
NM_000059.4(BRCA2):c.6447_6448del (p.Lys2150fs)
|
rs397507857
|
|
NM_000059.4(BRCA2):c.6491_6495del (p.Gln2164fs)
|
rs397507863
|
|
NM_000059.4(BRCA2):c.6527del (p.Asn2176fs)
|
rs397507864
|
|
NM_000059.4(BRCA2):c.6589del (p.Thr2197fs)
|
rs397507868
|
|
NM_000059.4(BRCA2):c.6635_6636del (p.Cys2212fs)
|
rs397507872
|
|
NM_000059.4(BRCA2):c.664C>T (p.Pro222Ser)
|
rs397507873
|
|
NM_000059.4(BRCA2):c.6652dup (p.Asp2218fs)
|
rs397507874
|
|
NM_000059.4(BRCA2):c.6684del (p.Glu2229fs)
|
rs397507876
|
|
NM_000059.4(BRCA2):c.671A>T (p.Asp224Val)
|
rs397507878
|
|
NM_000059.4(BRCA2):c.68-9T>G
|
rs397507883
|
|
NM_000059.4(BRCA2):c.6800C>A (p.Ser2267Ter)
|
rs377698594
|
|
NM_000059.4(BRCA2):c.6996del (p.Cys2332fs)
|
rs397507889
|
|
NM_000059.4(BRCA2):c.7067_7068del (p.Phe2356fs)
|
rs397507894
|
|
NM_000059.4(BRCA2):c.7082_7100dup (p.Thr2367_Leu2368insPheValTer)
|
rs397507895
|
|
NM_000059.4(BRCA2):c.7166del (p.Arg2389fs)
|
rs397507898
|
|
NM_000059.4(BRCA2):c.7187dup (p.Leu2396fs)
|
rs397507901
|
|
NM_000059.4(BRCA2):c.71T>A (p.Leu24Ter)
|
rs397507902
|
|
NM_000059.4(BRCA2):c.7210_7216delinsTG (p.Lys2404fs)
|
rs397507904
|
|
NM_000059.4(BRCA2):c.7224_7227del (p.Pro2409fs)
|
rs397507905
|
|
NM_000059.4(BRCA2):c.7366C>G (p.Gln2456Glu)
|
rs397507912
|
|
NM_000059.4(BRCA2):c.7525_7526insT (p.Ser2509fs)
|
rs1555286270
|
|
NM_000059.4(BRCA2):c.7618-1G>C
|
rs397507389
|
|
NM_000059.4(BRCA2):c.7618-27T>A
|
rs397507925
|
|
NM_000059.4(BRCA2):c.7636_7645del (p.Ser2546fs)
|
rs397507927
|
|
NM_000059.4(BRCA2):c.7675_7676insAAAC (p.Ser2559Ter)
|
rs397507929
|
|
NM_000059.4(BRCA2):c.7680del (p.Gln2561fs)
|
rs80359673
|
|
NM_000059.4(BRCA2):c.775A>T (p.Arg259Ter)
|
rs397507937
|
|
NM_000059.4(BRCA2):c.7963del (p.Gln2655fs)
|
rs397507945
|
|
NM_000059.4(BRCA2):c.8056C>T (p.Leu2686Phe)
|
rs397507960
|
|
NM_000059.4(BRCA2):c.8162T>G (p.Leu2721Arg)
|
rs80359061
|
|
NM_000059.4(BRCA2):c.8175G>A (p.Trp2725Ter)
|
rs397507965
|
|
NM_000059.4(BRCA2):c.8191C>T (p.Gln2731Ter)
|
rs397507966
|
|
NM_000059.4(BRCA2):c.8228_8229insA (p.Arg2744fs)
|
rs397507970
|
|
NM_000059.4(BRCA2):c.8255TTC[1] (p.Leu2753del)
|
rs397507971
|
|
NM_000059.4(BRCA2):c.8317_8330del (p.Ser2773fs)
|
rs397507976
|
|
NM_000059.4(BRCA2):c.8331_8332del (p.Lys2777fs)
|
rs397507978
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8348dup (p.Arg2784fs)
|
rs397507980
|
|
NM_000059.4(BRCA2):c.8396G>C (p.Arg2799Thr)
|
rs397507982
|
|
NM_000059.4(BRCA2):c.8415_8416del (p.Leu2805fs)
|
rs397507402
|
|
NM_000059.4(BRCA2):c.8415dup (p.Ser2806fs)
|
rs397507985
|
|
NM_000059.4(BRCA2):c.8434GGA[1] (p.Gly2813del)
|
rs397507986
|
|
NM_000059.4(BRCA2):c.8528del (p.Asn2843fs)
|
rs397507989
|
|
NM_000059.4(BRCA2):c.8532_8533del (p.Glu2846fs)
|
rs397507990
|
|
NM_000059.4(BRCA2):c.8601dup (p.Lys2868Ter)
|
rs397507995
|
|
NM_000059.4(BRCA2):c.8632+2T>G
|
rs397507998
|
|
NM_000059.4(BRCA2):c.8642_8643insTT (p.Thr2881_Lys2882insTer)
|
rs397507999
|
|
NM_000059.4(BRCA2):c.8644A>T (p.Lys2882Ter)
|
rs397508000
|
|
NM_000059.4(BRCA2):c.8646_8649del (p.Lys2882fs)
|
rs397508001
|
|
NM_000059.4(BRCA2):c.8680C>T (p.Gln2894Ter)
|
rs397508002
|
|
NM_000059.4(BRCA2):c.8754+11A>C
|
rs397508005
|
|
NM_000059.4(BRCA2):c.8820_8823del (p.Gln2941fs)
|
rs397508011
|
|
NM_000059.4(BRCA2):c.8890dup (p.Arg2964fs)
|
rs397508017
|
|
NM_000059.4(BRCA2):c.8912dup (p.Leu2972fs)
|
rs80359731
|
|
NM_000059.4(BRCA2):c.8950del (p.Ser2984fs)
|
rs397508022
|
|
NM_000059.4(BRCA2):c.8953+5G>T
|
rs397508023
|
|
NM_000059.4(BRCA2):c.8956dup (p.Ile2986fs)
|
rs397508024
|
|
NM_000059.4(BRCA2):c.9007G>T (p.Gly3003Ter)
|
rs397508029
|
|
NM_000059.4(BRCA2):c.9018_9019insTCTA (p.Arg3007fs)
|
rs397508030
|
|
NM_000059.4(BRCA2):c.9094_9097del (p.Lys3032fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9100dup (p.Gln3034fs)
|
rs397508036
|
|
NM_000059.4(BRCA2):c.9117+2T>A
|
rs397508038
|
|
NM_000059.4(BRCA2):c.9262dup (p.Ala3088fs)
|
rs397508042
|
|
NM_000059.4(BRCA2):c.9291T>A (p.Cys3097Ter)
|
rs397508044
|
|
NM_000059.4(BRCA2):c.9324_9325insATTA (p.Leu3109fs)
|
rs397508046
|
|
NM_000059.4(BRCA2):c.9356_9357delinsG (p.Met3118_Leu3119insTer)
|
rs397508048
|
|
NM_000059.4(BRCA2):c.9498dup (p.Glu3167Ter)
|
rs397508055
|
|
NM_000059.4(BRCA2):c.9502-28A>G
|
rs397508059
|
|
NM_000059.4(BRCA2):c.9705_9706insG (p.Lys3236fs)
|
rs397508064
|
|
NM_000059.4(BRCA2):c.993_994dup (p.Ile332fs)
|
rs80359777
|
|
NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser)
|
rs80338782
|
|
NM_000094.4(COL7A1):c.5443G>A (p.Gly1815Arg)
|
rs121912841
|
|
NM_000125.4(ESR1):c.1125G>T (p.Gln375His)
|
rs397509428
|
|
NM_000171.4(GLRA1):c.593G>C (p.Trp198Ser)
|
rs202247813
|
|
NM_000218.3(KCNQ1):c.1018_1020del (p.Phe340del)
|
rs397508069
|
|
NM_000218.3(KCNQ1):c.1032+5G>A
|
rs397508071
|
|
NM_000218.3(KCNQ1):c.1066_1071del (p.Gln356_Gln357del)
|
rs397508073
|
|
NM_000218.3(KCNQ1):c.1067AGCAGA[1] (p.Lys358_Gln359del)
|
rs397508074
|
|
NM_000218.3(KCNQ1):c.1083_1088dup (p.Lys362_His363insGlnLys)
|
rs397508076
|
|
NM_000218.3(KCNQ1):c.1128+1G>T
|
rs397508078
|
|
NM_000218.3(KCNQ1):c.1149dup (p.Ala384fs)
|
rs397508079
|
|
NM_000218.3(KCNQ1):c.1174_1176dup (p.Trp392_Lys393insTrp)
|
rs397508080
|
|
NM_000218.3(KCNQ1):c.1189del (p.Arg397fs)
|
rs397508081
|
|
NM_000218.3(KCNQ1):c.1291dup (p.Val431fs)
|
rs397508085
|
|
NM_000218.3(KCNQ1):c.1293dup (p.Thr432fs)
|
rs397508086
|
|
NM_000218.3(KCNQ1):c.1345dup (p.Glu449fs)
|
rs397508089
|
|
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter)
|
rs397508091
|
|
NM_000218.3(KCNQ1):c.1514+1G>A
|
rs397508093
|
|
NM_000218.3(KCNQ1):c.151dup (p.Tyr51fs)
|
rs397508094
|
|
NM_000218.3(KCNQ1):c.1539del (p.Ile514fs)
|
rs397508095
|
|
NM_000218.3(KCNQ1):c.1686-1G>A
|
rs397508098
|
|
NM_000218.3(KCNQ1):c.1710del (p.Ser571fs)
|
rs397508099
|
|
NM_000218.3(KCNQ1):c.1725_1728del (p.Val576fs)
|
rs397508100
|
|
NM_000218.3(KCNQ1):c.1876_1893del (p.Gly626_Pro631del)
|
rs397508102
|
|
NM_000218.3(KCNQ1):c.202GCCGCGCCC[3] (p.68AAP[3])
|
rs397508107
|
|
NM_000218.3(KCNQ1):c.287del (p.Thr96fs)
|
rs397508108
|
|
NM_000218.3(KCNQ1):c.363dup (p.Cys122fs)
|
rs1554958119
|
|
NM_000218.3(KCNQ1):c.500_502del (p.Phe167_Gly168delinsTrp)
|
rs397508113
|
|
NM_000218.3(KCNQ1):c.504del (p.Thr169fs)
|
rs397508114
|
|
NM_000218.3(KCNQ1):c.577T>C (p.Phe193Leu)
|
rs397508119
|
|
NM_000218.3(KCNQ1):c.663_664dup (p.Phe222fs)
|
rs397508121
|
|
NM_000218.3(KCNQ1):c.743_744delinsTC (p.Trp248Phe)
|
rs397508123
|
|
NM_000218.3(KCNQ1):c.921_921+2del
|
rs397508132
|
|
NM_000218.3(KCNQ1):c.922-2A>C
|
rs397508133
|
|
NM_000264.5(PTCH1):c.1093C>T (p.Gln365Ter)
|
rs267606984
|
|
NM_000278.3(PAX2):c.44_46delCAG
|
|
|
NM_000278.5(PAX2):c.115_120del (p.Gln39_Arg40del)
|
rs74676646
|
|
NM_000278.5(PAX2):c.59del (p.Val20fs)
|
rs76803183
|
|
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter)
|
rs76492282
|
|
NM_000278.5(PAX2):c.68del (p.Leu23fs)
|
rs75999420
|
|
NM_000278.5(PAX2):c.706C>T (p.Gln236Ter)
|
rs75399846
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
NM_000278.5(PAX2):c.832del (p.Asp278fs)
|
rs78914041
|
|
NM_000307.5(POU3F4):c.896del (p.Lys299fs)
|
rs267606974
|
|
NM_000442.5(PECAM1):c.373G>C (p.Val125Leu)
|
rs281865545
|
|
NM_000477.7(ALB):c.1013A>G (p.Asp338Gly)
|
rs76242087
|
|
NM_000477.7(ALB):c.1013A>T (p.Asp338Val)
|
rs76242087
|
|
NM_000477.7(ALB):c.1195G>C (p.Asp399His)
|
rs77514449
|
|
NM_000477.7(ALB):c.1275C>A (p.Tyr425Ter)
|
rs281860283
|
|
NM_000477.7(ALB):c.1428+2T>C
|
rs78784172
|
|
NM_000477.7(ALB):c.1610del (p.Ile537fs)
|
rs77081291
|
|
NM_000477.7(ALB):c.166C>T (p.Gln56Ter)
|
rs75470261
|
|
NM_000477.7(ALB):c.1721A>C (p.Asp574Ala)
|
rs79738788
|
|
NM_000477.7(ALB):c.1750A>G (p.Lys584Glu)
|
rs76671808
|
|
NM_000477.7(ALB):c.1786-15T>A
|
rs78342924
|
|
NM_000477.7(ALB):c.1794dup (p.Leu599fs)
|
rs75000326
|
|
NM_000477.7(ALB):c.437T>A (p.Val146Glu)
|
rs77752336
|
|
NM_000477.7(ALB):c.597T>A (p.Ala199=)
|
rs281860282
|
|
NM_000477.7(ALB):c.714G>A (p.Trp238Ter)
|
rs76454301
|
|
NM_000477.7(ALB):c.802G>T (p.Glu268Ter)
|
rs78340021
|
|
NM_000486.6(AQP2):c.647C>T (p.Ser216Phe)
|
rs199422215
|
|
NM_000489.6(ATRX):c.6718C>T (p.Leu2240Phe)
|
rs199474698
|
|
NM_000492.3(CFTR):c.2909delG
|
rs397508458
|
|
NM_000492.3(CFTR):c.4_53+69del119ins299
|
|
|
NM_000492.4(CFTR):c.*80T>G
|
rs397508135
|
|
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)
|
rs397508137
|
|
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del)
|
rs397508141
|
|
NM_000492.4(CFTR):c.1012A>G (p.Thr338Ala)
|
rs397508142
|
|
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro)
|
rs397508146
|
|
NM_000492.4(CFTR):c.1059A>C (p.Gln353His)
|
rs1800087
|
|
NM_000492.4(CFTR):c.105dup (p.Asp36fs)
|
rs397508149
|
|
NM_000492.4(CFTR):c.1069del (p.Ala357fs)
|
rs397508151
|
|
NM_000492.4(CFTR):c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys)
|
rs397508152
|
|
NM_000492.4(CFTR):c.1081T>A (p.Trp361Arg)
|
rs397508154
|
|
NM_000492.4(CFTR):c.1086T>A (p.Tyr362Ter)
|
rs397508155
|
|
NM_000492.4(CFTR):c.1086T>G (p.Tyr362Ter)
|
rs397508155
|
|
NM_000492.4(CFTR):c.1094T>C (p.Leu365Pro)
|
rs76727851
|
|
NM_000492.4(CFTR):c.1106_1111dup (p.Asn369_Lys370dup)
|
rs397508156
|
|
NM_000492.4(CFTR):c.1116+1G>C
|
rs397508158
|
|
NM_000492.4(CFTR):c.1117-26_1117-25del
|
rs397508159
|
|
NM_000492.4(CFTR):c.112_113del (p.Tyr38fs)
|
rs397508162
|
|
NM_000492.4(CFTR):c.1148T>C (p.Leu383Ser)
|
rs397508166
|
|
NM_000492.4(CFTR):c.1152del (p.Glu384fs)
|
rs397508167
|
|
NM_000492.4(CFTR):c.1175T>C (p.Val392Ala)
|
rs397508170
|
|
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)
|
rs397508170
|
|
NM_000492.4(CFTR):c.1177del (p.Val392_Val393insTer)
|
rs397508171
|
|
NM_000492.4(CFTR):c.1196C>A (p.Ala399Asp)
|
rs146463120
|
|
NM_000492.4(CFTR):c.1209G>A (p.Glu403=)
|
rs397508177
|
|
NM_000492.4(CFTR):c.1209G>C (p.Glu403Asp)
|
rs397508177
|
|
NM_000492.4(CFTR):c.1210-1G>C
|
rs397508178
|
|
NM_000492.4(CFTR):c.1234del (p.Ala412fs)
|
rs397508181
|
|
NM_000492.4(CFTR):c.1235del (p.Ala412fs)
|
rs397508182
|
|
NM_000492.4(CFTR):c.131A>G (p.Asp44Gly)
|
rs1800074
|
|
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro)
|
rs397508188
|
|
NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer)
|
rs397508190
|
|
NM_000492.4(CFTR):c.1331T>G (p.Ile444Ser)
|
rs397508191
|
|
NM_000492.4(CFTR):c.1366G>T (p.Val456Phe)
|
rs397508195
|
|
NM_000492.4(CFTR):c.1393-18G>A
|
rs397508199
|
|
NM_000492.4(CFTR):c.1403T>C (p.Leu468Pro)
|
rs397508202
|
|
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs)
|
rs397508204
|
|
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)
|
rs79282516
|
|
NM_000492.4(CFTR):c.1446dup (p.Lys483Ter)
|
rs397508209
|
|
NM_000492.4(CFTR):c.1478A>C (p.Gln493Pro)
|
rs397508214
|
|
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter)
|
rs397508216
|
|
NM_000492.4(CFTR):c.1495C>G (p.Pro499Ala)
|
rs397508219
|
|
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala)
|
rs397508221
|
|
NM_000492.4(CFTR):c.1510G>C (p.Glu504Gln)
|
rs397508223
|
|
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu)
|
rs1800091
|
|
NM_000492.4(CFTR):c.1517T>G (p.Ile506Ser)
|
rs397508224
|
|
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)
|
rs397508225
|
|
NM_000492.4(CFTR):c.1584G>T (p.Glu528Asp)
|
rs1800095
|
|
NM_000492.4(CFTR):c.1585-2A>G
|
rs397508233
|
|
NM_000492.4(CFTR):c.1585-9T>A
|
rs397508234
|
|
NM_000492.4(CFTR):c.1588A>C (p.Ile530Leu)
|
rs397508237
|
|
NM_000492.4(CFTR):c.1597T>C (p.Phe533Leu)
|
rs397508238
|
|
NM_000492.4(CFTR):c.1606A>T (p.Lys536Ter)
|
rs148173473
|
|
NM_000492.4(CFTR):c.1611_1612del (p.Asp537fs)
|
rs397508239
|
|
NM_000492.4(CFTR):c.1631G>T (p.Gly544Val)
|
rs397508241
|
|
NM_000492.4(CFTR):c.164+1G>C
|
rs397508243
|
|
NM_000492.4(CFTR):c.164+1G>T
|
rs397508243
|
|
NM_000492.4(CFTR):c.164+2T>A
|
rs121908800
|
|
NM_000492.4(CFTR):c.164+2T>C
|
rs121908800
|
|
NM_000492.4(CFTR):c.164+4dup
|
rs397508244
|
|
NM_000492.4(CFTR):c.164+9A>T
|
rs397508245
|
|
NM_000492.4(CFTR):c.1648G>A (p.Gly550Arg)
|
rs397508247
|
|
NM_000492.4(CFTR):c.1652del (p.Gly551fs)
|
rs397508252
|
|
NM_000492.4(CFTR):c.1657C>G (p.Arg553Gly)
|
rs74597325
|
|
NM_000492.4(CFTR):c.1660_1661insA (p.Ala554fs)
|
rs397508254
|
|
NM_000492.4(CFTR):c.1663A>G (p.Arg555Gly)
|
rs397508255
|
|
NM_000492.4(CFTR):c.1670del (p.Ser557fs)
|
rs397508257
|
|
NM_000492.4(CFTR):c.1678A>G (p.Arg560Gly)
|
rs397508260
|
|
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)
|
rs397508267
|
|
NM_000492.4(CFTR):c.1687T>G (p.Tyr563Asp)
|
rs121909006
|
|
NM_000492.4(CFTR):c.168del (p.Glu56fs)
|
rs397508269
|
|
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly)
|
rs397508272
|
|
NM_000492.4(CFTR):c.1703del (p.Leu568fs)
|
rs397508274
|
|
NM_000492.4(CFTR):c.1704G>T (p.Leu568Phe)
|
rs397508275
|
|
NM_000492.4(CFTR):c.1705T>C (p.Tyr569His)
|
rs397508276
|
|
NM_000492.4(CFTR):c.1706A>G (p.Tyr569Cys)
|
rs397508277
|
|
NM_000492.4(CFTR):c.1707T>A (p.Tyr569Ter)
|
rs397508278
|
|
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)
|
rs397508280
|
|
NM_000492.4(CFTR):c.1714G>A (p.Asp572Asn)
|
rs397508282
|
|
NM_000492.4(CFTR):c.1714_1715del (p.Asp572fs)
|
rs397508281
|
|
NM_000492.4(CFTR):c.1720C>T (p.Pro574Ser)
|
rs397508283
|
|
NM_000492.4(CFTR):c.1726G>T (p.Gly576Ter)
|
rs397508284
|
|
NM_000492.4(CFTR):c.172G>A (p.Asp58Asn)
|
rs397508285
|
|
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe)
|
rs397508286
|
|
NM_000492.4(CFTR):c.1735G>T (p.Asp579Tyr)
|
rs397508287
|
|
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)
|
rs397508288
|
|
NM_000492.4(CFTR):c.1738del (p.Val580fs)
|
rs397508289
|
|
NM_000492.4(CFTR):c.173A>G (p.Asp58Gly)
|
rs397508291
|
|
NM_000492.4(CFTR):c.1742dup (p.Leu581fs)
|
rs397508290
|
|
NM_000492.4(CFTR):c.1745C>G (p.Thr582Arg)
|
rs397508293
|
|
NM_000492.4(CFTR):c.174_177del (p.Asp58fs)
|
rs397508295
|
|
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)
|
rs397508297
|
|
NM_000492.4(CFTR):c.1766+5G>A
|
rs121908796
|
|
NM_000492.4(CFTR):c.1766G>T (p.Ser589Ile)
|
rs397508300
|
|
NM_000492.4(CFTR):c.1786_1787del (p.Met595_Ala596insTer)
|
rs397508301
|
|
NM_000492.4(CFTR):c.178G>A (p.Glu60Lys)
|
rs77284892
|
|
NM_000492.4(CFTR):c.1798A>G (p.Arg600Gly)
|
rs397508305
|
|
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe)
|
rs397508306
|
|
NM_000492.4(CFTR):c.1802T>C (p.Ile601Thr)
|
rs397508307
|
|
NM_000492.4(CFTR):c.1807G>T (p.Val603Phe)
|
rs143036685
|
|
NM_000492.4(CFTR):c.1823A>G (p.Glu608Gly)
|
rs397508309
|
|
NM_000492.4(CFTR):c.1829T>C (p.Leu610Ser)
|
rs397508311
|
|
NM_000492.4(CFTR):c.1856T>C (p.Leu619Ser)
|
rs397508313
|
|
NM_000492.4(CFTR):c.1859A>C (p.His620Pro)
|
rs397508314
|
|
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)
|
rs397508315
|
|
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.1898T>C (p.Leu633Pro)
|
rs397508318
|
|
NM_000492.4(CFTR):c.1909C>T (p.Gln637Ter)
|
rs397508320
|
|
NM_000492.4(CFTR):c.1919_1920del (p.Asp639_Phe640insTer)
|
rs397508322
|
|
NM_000492.4(CFTR):c.1966G>T (p.Glu656Ter)
|
rs397508323
|
|
NM_000492.4(CFTR):c.1976del (p.Asn659fs)
|
rs121908809
|
|
NM_000492.4(CFTR):c.1981del (p.Ile661fs)
|
rs397508324
|
|
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter)
|
rs397508327
|
|
NM_000492.4(CFTR):c.2045dup (p.Gln685fs)
|
rs397508334
|
|
NM_000492.4(CFTR):c.2051_2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2074G>T (p.Glu692Ter)
|
rs397508337
|
|
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu)
|
rs397508338
|
|
NM_000492.4(CFTR):c.2087A>G (p.Lys696Arg)
|
rs397508340
|
|
NM_000492.4(CFTR):c.2156T>A (p.Leu719Ter)
|
rs397508345
|
|
NM_000492.4(CFTR):c.2188G>T (p.Glu730Ter)
|
rs397508349
|
|
NM_000492.4(CFTR):c.2203del (p.Arg735fs)
|
rs397508351
|
|
NM_000492.4(CFTR):c.2204G>A (p.Arg735Lys)
|
rs397508352
|
|
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu)
|
rs1800076
|
|
NM_000492.4(CFTR):c.2259C>G (p.Ser753Arg)
|
rs201888075
|
|
NM_000492.4(CFTR):c.2297G>T (p.Arg766Met)
|
rs397508363
|
|
NM_000492.4(CFTR):c.2327C>G (p.Ser776Ter)
|
rs397508365
|
|
NM_000492.4(CFTR):c.2346C>A (p.Asn782Lys)
|
rs397508369
|
|
NM_000492.4(CFTR):c.236G>A (p.Trp79Ter)
|
rs397508371
|
|
NM_000492.4(CFTR):c.2393dup (p.Gln799fs)
|
rs397508372
|
|
NM_000492.4(CFTR):c.2399C>G (p.Ala800Gly)
|
rs397508373
|
|
NM_000492.4(CFTR):c.2411A>T (p.Glu804Val)
|
rs397508374
|
|
NM_000492.4(CFTR):c.2440C>T (p.Gln814Ter)
|
rs397508377
|
|
NM_000492.4(CFTR):c.2464G>A (p.Glu822Lys)
|
rs397508378
|
|
NM_000492.4(CFTR):c.2472del (p.Asn825fs)
|
rs397508380
|
|
NM_000492.4(CFTR):c.2488A>T (p.Lys830Ter)
|
rs397508382
|
|
NM_000492.4(CFTR):c.2522C>G (p.Pro841Arg)
|
rs397508392
|
|
NM_000492.4(CFTR):c.254G>T (p.Gly85Val)
|
rs75961395
|
|
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
NM_000492.4(CFTR):c.2592_2593del (p.Ile864fs)
|
rs397508401
|
|
NM_000492.4(CFTR):c.2596T>C (p.Cys866Arg)
|
rs397508402
|
|
NM_000492.4(CFTR):c.259T>A (p.Phe87Ile)
|
rs397508403
|
|
NM_000492.4(CFTR):c.259T>C (p.Phe87Leu)
|
rs397508403
|
|
NM_000492.4(CFTR):c.2619+2T>A
|
rs397508407
|
|
NM_000492.4(CFTR):c.2619+3A>G
|
rs397508408
|
|
NM_000492.4(CFTR):c.2620-1G>T
|
rs397508410
|
|
NM_000492.4(CFTR):c.263T>A (p.Leu88Ter)
|
rs397508412
|
|
NM_000492.4(CFTR):c.263T>C (p.Leu88Ser)
|
rs397508412
|
|
NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter)
|
rs397508413
|
|
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg)
|
rs397508417
|
|
NM_000492.4(CFTR):c.269T>C (p.Leu90Ser)
|
rs397508421
|
|
NM_000492.4(CFTR):c.274-2A>G
|
rs397508426
|
|
NM_000492.4(CFTR):c.2750A>G (p.Tyr917Cys)
|
rs397508428
|
|
NM_000492.4(CFTR):c.2754T>G (p.Ile918Met)
|
rs397508429
|
|
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu)
|
rs373885282
|
|
NM_000492.4(CFTR):c.2776_2777del (p.Leu926fs)
|
rs397508433
|
|
NM_000492.4(CFTR):c.2777del (p.Leu926fs)
|
rs397508433
|
|
NM_000492.4(CFTR):c.2799A>T (p.Arg933Ser)
|
rs397508437
|
|
NM_000492.4(CFTR):c.2846A>G (p.His949Arg)
|
rs397508444
|
|
NM_000492.4(CFTR):c.2861A>C (p.His954Pro)
|
rs397508446
|
|
NM_000492.4(CFTR):c.287C>A (p.Ala96Glu)
|
rs397508449
|
|
NM_000492.4(CFTR):c.2916_2917delinsAT (p.Leu973Phe)
|
rs397508459
|
|
NM_000492.4(CFTR):c.2918T>C (p.Leu973Pro)
|
rs397508460
|
|
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro)
|
rs137975784
|
|
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val)
|
rs397508462
|
|
NM_000492.4(CFTR):c.293A>C (p.Gln98Pro)
|
rs397508464
|
|
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr)
|
rs397508468
|
|
NM_000492.4(CFTR):c.2989-3C>G
|
rs397508471
|
|
NM_000492.4(CFTR):c.2998_3019del (p.Ile1000fs)
|
rs397508474
|
|
NM_000492.4(CFTR):c.2998del (p.Ile1000fs)
|
rs397508475
|
|
NM_000492.4(CFTR):c.2T>A (p.Met1Lys)
|
rs397508476
|
|
NM_000492.4(CFTR):c.3007G>T (p.Gly1003Ter)
|
rs397508478
|
|
NM_000492.4(CFTR):c.3008G>A (p.Gly1003Glu)
|
rs55803548
|
|
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)
|
rs397508479
|
|
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)
|
rs397508480
|
|
NM_000492.4(CFTR):c.3021del (p.Val1008fs)
|
rs397508481
|
|
NM_000492.4(CFTR):c.3023T>A (p.Val1008Asp)
|
rs397508483
|
|
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)
|
rs193922516
|
|
NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs)
|
rs121908781
|
|
NM_000492.4(CFTR):c.303dup (p.Leu102fs)
|
rs397508486
|
|
NM_000492.4(CFTR):c.305T>C (p.Leu102Pro)
|
rs397508490
|
|
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser)
|
rs397508491
|
|
NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del)
|
rs1554392027
|
|
NM_000492.4(CFTR):c.3084G>T (p.Met1028Ile)
|
rs200553511
|
|
NM_000492.4(CFTR):c.3139+1G>T
|
rs397508503
|
|
NM_000492.4(CFTR):c.3139G>C (p.Gly1047Arg)
|
rs397508504
|
|
NM_000492.4(CFTR):c.3140-4A>G
|
rs397508507
|
|
NM_000492.4(CFTR):c.3176T>G (p.Leu1059Ter)
|
rs397508512
|
|
NM_000492.4(CFTR):c.3179A>C (p.Lys1060Thr)
|
rs397508513
|
|
NM_000492.4(CFTR):c.3189G>A (p.Trp1063Ter)
|
rs397508514
|
|
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)
|
rs121909036
|
|
NM_000492.4(CFTR):c.3196C>A (p.Arg1066Ser)
|
rs78194216
|
|
NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu)
|
rs121909019
|
|
NM_000492.4(CFTR):c.319_326del (p.Ile106_Ala107insTer)
|
rs397508516
|
|
NM_000492.4(CFTR):c.3209G>C (p.Arg1070Pro)
|
rs78769542
|
|
NM_000492.4(CFTR):c.3229_3230del (p.Leu1077fs)
|
rs397508518
|
|
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)
|
rs397508520
|
|
NM_000492.4(CFTR):c.3241G>C (p.Ala1081Pro)
|
rs397508521
|
|
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp)
|
rs397508523
|
|
NM_000492.4(CFTR):c.3263dup (p.Asn1088fs)
|
rs397508524
|
|
NM_000492.4(CFTR):c.3264del (p.Trp1089fs)
|
rs397508525
|
|
NM_000492.4(CFTR):c.3278T>C (p.Leu1093Pro)
|
rs397508527
|
|
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter)
|
rs397508528
|
|
NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA
|
rs1554392248
|
|
NM_000492.4(CFTR):c.328del (p.Asp110fs)
|
rs397508530
|
|
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)
|
rs397508531
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000492.4(CFTR):c.3314T>G (p.Met1105Arg)
|
rs397508539
|
|
NM_000492.4(CFTR):c.3315del (p.Met1105fs)
|
rs397508540
|
|
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala)
|
rs397508541
|
|
NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys)
|
rs146521846
|
|
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)
|
rs146521846
|
|
NM_000492.4(CFTR):c.3367+6A>G
|
rs397508545
|
|
NM_000492.4(CFTR):c.3367G>C (p.Gly1123Arg)
|
rs397508546
|
|
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del)
|
rs397508548
|
|
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala)
|
rs397508550
|
|
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg)
|
rs397508555
|
|
NM_000492.4(CFTR):c.3419T>A (p.Met1140Lys)
|
rs397508558
|
|
NM_000492.4(CFTR):c.3419_3421del (p.Met1140del)
|
rs397508557
|
|
NM_000492.4(CFTR):c.342GGA[1] (p.Glu116del)
|
rs397508563
|
|
NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter)
|
rs397508561
|
|
NM_000492.4(CFTR):c.3439G>A (p.Val1147Ile)
|
rs397508562
|
|
NM_000492.4(CFTR):c.3461A>G (p.Asp1154Gly)
|
rs397508569
|
|
NM_000492.4(CFTR):c.3469-2A>G
|
rs397508570
|
|
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)
|
rs397508571
|
|
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe)
|
rs397508573
|
|
NM_000492.4(CFTR):c.3481A>C (p.Ser1161Arg)
|
rs397508574
|
|
NM_000492.4(CFTR):c.3486_3487del (p.Val1163fs)
|
rs397508575
|
|
NM_000492.4(CFTR):c.3497T>G (p.Phe1166Cys)
|
rs397508577
|
|
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro)
|
rs78655421
|
|
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3529A>T (p.Lys1177Ter)
|
rs397508578
|
|
NM_000492.4(CFTR):c.3530del (p.Lys1177fs)
|
rs397508579
|
|
NM_000492.4(CFTR):c.3592del (p.His1197_Val1198insTer)
|
rs397508585
|
|
NM_000492.4(CFTR):c.3600A>G (p.Lys1200=)
|
rs397508586
|
|
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter)
|
rs397508588
|
|
NM_000492.4(CFTR):c.3618_3619del (p.Gly1208fs)
|
rs397508589
|
|
NM_000492.4(CFTR):c.364T>C (p.Tyr122His)
|
rs397508592
|
|
NM_000492.4(CFTR):c.3680T>C (p.Leu1227Ser)
|
rs397508593
|
|
NM_000492.4(CFTR):c.3718-24_3873+601del
|
rs1554395323
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
NM_000492.4(CFTR):c.3731G>T (p.Gly1244Val)
|
rs267606723
|
|
NM_000492.4(CFTR):c.3745G>A (p.Gly1249Arg)
|
rs397508602
|
|
NM_000492.4(CFTR):c.3754A>C (p.Thr1252Pro)
|
rs397508603
|
|
NM_000492.4(CFTR):c.3764C>T (p.Ser1255Leu)
|
rs76649725
|
|
NM_000492.4(CFTR):c.3777ACT[1] (p.Leu1261del)
|
rs397508610
|
|
NM_000492.4(CFTR):c.380T>G (p.Leu127Ter)
|
rs397508611
|
|
NM_000492.4(CFTR):c.3816_3817del (p.Ser1273fs)
|
rs397508612
|
|
NM_000492.4(CFTR):c.3822G>A (p.Trp1274Ter)
|
rs397508613
|
|
NM_000492.4(CFTR):c.3829del (p.Ser1276_Ile1277insTer)
|
rs397508614
|
|
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter)
|
rs397508615
|
|
NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly)
|
rs397508616
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
NM_000492.4(CFTR):c.3855del (p.Phe1286fs)
|
rs397508618
|
|
NM_000492.4(CFTR):c.3868C>T (p.Pro1290Ser)
|
rs397508619
|
|
NM_000492.4(CFTR):c.3871C>T (p.Gln1291Ter)
|
rs397508620
|
|
NM_000492.4(CFTR):c.3873+33A>G
|
rs397508622
|
|
NM_000492.4(CFTR):c.3874-1G>A
|
rs397508624
|
|
NM_000492.4(CFTR):c.387del (p.Leu130fs)
|
rs397508627
|
|
NM_000492.4(CFTR):c.3891dup (p.Gly1298fs)
|
rs397508633
|
|
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)
|
rs397508634
|
|
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)
|
rs397508635
|
|
NM_000492.4(CFTR):c.3908dup (p.Asn1303fs)
|
rs397508637
|
|
NM_000492.4(CFTR):c.3915T>A (p.Asp1305Glu)
|
rs397508640
|
|
NM_000492.4(CFTR):c.3918C>T (p.Pro1306=)
|
rs1800132
|
|
NM_000492.4(CFTR):c.3920A>G (p.Tyr1307Cys)
|
rs397508641
|
|
NM_000492.4(CFTR):c.3921T>A (p.Tyr1307Ter)
|
rs397508642
|
|
NM_000492.4(CFTR):c.393del (p.Phe131fs)
|
rs397508647
|
|
NM_000492.4(CFTR):c.3963+2T>A
|
rs397508650
|
|
NM_000492.4(CFTR):c.3964-3C>G
|
rs397508652
|
|
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro)
|
rs397508653
|
|
NM_000492.4(CFTR):c.3976del (p.Ser1326fs)
|
rs397508654
|
|
NM_000492.4(CFTR):c.3982_3984delinsTT (p.Ile1328fs)
|
rs397508655
|
|
NM_000492.4(CFTR):c.3985G>C (p.Glu1329Gln)
|
rs397508656
|
|
NM_000492.4(CFTR):c.3G>T (p.Met1Ile)
|
rs397508657
|
|
NM_000492.4(CFTR):c.4009T>G (p.Phe1337Val)
|
rs397508659
|
|
NM_000492.4(CFTR):c.4015C>T (p.Leu1339Phe)
|
rs397508660
|
|
NM_000492.4(CFTR):c.4025_4028dup (p.Cys1344fs)
|
rs397508661
|
|
NM_000492.4(CFTR):c.4040_4041del (p.Ser1347fs)
|
rs397508664
|
|
NM_000492.4(CFTR):c.4042del (p.His1348fs)
|
rs397508665
|
|
NM_000492.4(CFTR):c.4051A>G (p.Lys1351Glu)
|
rs397508666
|
|
NM_000492.4(CFTR):c.409_412del (p.Leu137fs)
|
rs397508671
|
|
NM_000492.4(CFTR):c.410T>A (p.Leu137His)
|
rs397508674
|
|
NM_000492.4(CFTR):c.4136+2T>G
|
rs1562928998
|
|
NM_000492.4(CFTR):c.4139del (p.Thr1380fs)
|
rs397508680
|
|
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)
|
rs397508686
|
|
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His)
|
rs397508682
|
|
NM_000492.4(CFTR):c.4143C>A (p.Tyr1381Ter)
|
rs397508683
|
|
NM_000492.4(CFTR):c.4163T>A (p.Leu1388Gln)
|
rs397508688
|
|
NM_000492.4(CFTR):c.416A>G (p.His139Arg)
|
rs76371115
|
|
NM_000492.4(CFTR):c.416A>T (p.His139Leu)
|
rs76371115
|
|
NM_000492.4(CFTR):c.4190T>A (p.Val1397Glu)
|
rs397508691
|
|
NM_000492.4(CFTR):c.4201G>A (p.Glu1401Lys)
|
rs397508696
|
|
NM_000492.4(CFTR):c.4201G>T (p.Glu1401Ter)
|
rs397508696
|
|
NM_000492.4(CFTR):c.4202A>G (p.Glu1401Gly)
|
rs397508697
|
|
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp)
|
rs397508700
|
|
NM_000492.4(CFTR):c.4241T>C (p.Leu1414Ser)
|
rs397508703
|
|
NM_000492.4(CFTR):c.4242+1G>A
|
rs372227120
|
|
NM_000492.4(CFTR):c.42del (p.Lys14fs)
|
rs397508710
|
|
NM_000492.4(CFTR):c.43del (p.Leu15fs)
|
rs397508715
|
|
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter)
|
rs397508716
|
|
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)
|
rs35516286
|
|
NM_000492.4(CFTR):c.445G>A (p.Gly149Arg)
|
rs397508718
|
|
NM_000492.4(CFTR):c.451C>T (p.Gln151Ter)
|
rs397508720
|
|
NM_000492.4(CFTR):c.454A>G (p.Met152Val)
|
rs397508721
|
|
NM_000492.4(CFTR):c.455T>G (p.Met152Arg)
|
rs397508722
|
|
NM_000492.4(CFTR):c.463G>C (p.Ala155Pro)
|
rs397508723
|
|
NM_000492.4(CFTR):c.481T>A (p.Tyr161Asn)
|
rs397508729
|
|
NM_000492.4(CFTR):c.481T>G (p.Tyr161Asp)
|
rs397508729
|
|
NM_000492.4(CFTR):c.482A>G (p.Tyr161Cys)
|
rs397508730
|
|
NM_000492.4(CFTR):c.489+2T>C
|
rs397508732
|
|
NM_000492.4(CFTR):c.489+2T>G
|
rs397508732
|
|
NM_000492.4(CFTR):c.489G>A (p.Lys163=)
|
rs397508733
|
|
NM_000492.4(CFTR):c.490-2A>G
|
rs397508735
|
|
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser)
|
rs397508736
|
|
NM_000492.4(CFTR):c.494del (p.Thr164_Leu165insTer)
|
rs397508737
|
|
NM_000492.4(CFTR):c.496A>G (p.Lys166Glu)
|
rs397508738
|
|
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)
|
rs397508740
|
|
NM_000492.4(CFTR):c.500T>G (p.Leu167Arg)
|
rs397508741
|
|
NM_000492.4(CFTR):c.50dup (p.Ser18fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.522_526del (p.Ile175fs)
|
rs397508743
|
|
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)
|
rs397508744
|
|
NM_000492.4(CFTR):c.54-1161_164+1603del
|
|
|
NM_000492.4(CFTR):c.54-13C>G
|
rs397508749
|
|
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile)
|
rs397508751
|
|
NM_000492.4(CFTR):c.550del (p.Leu184fs)
|
rs397508752
|
|
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys)
|
rs397508755
|
|
NM_000492.4(CFTR):c.574G>A (p.Asp192Asn)
|
rs397508756
|
|
NM_000492.4(CFTR):c.575A>G (p.Asp192Gly)
|
rs397508758
|
|
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)
|
rs397508759
|
|
NM_000492.4(CFTR):c.579+3A>T
|
rs397508761
|
|
NM_000492.4(CFTR):c.57G>T (p.Trp19Cys)
|
rs397508762
|
|
NM_000492.4(CFTR):c.596A>G (p.His199Arg)
|
rs397508764
|
|
NM_000492.4(CFTR):c.597T>G (p.His199Gln)
|
rs397508765
|
|
NM_000492.4(CFTR):c.606G>A (p.Trp202Ter)
|
rs397508768
|
|
NM_000492.4(CFTR):c.609C>G (p.Ile203Met)
|
rs1800081
|
|
NM_000492.4(CFTR):c.618G>T (p.Leu206Phe)
|
rs397508770
|
|
NM_000492.4(CFTR):c.642_643insT (p.Ile215fs)
|
rs397508774
|
|
NM_000492.4(CFTR):c.647G>A (p.Trp216Ter)
|
rs397508775
|
|
NM_000492.4(CFTR):c.673T>C (p.Cys225Arg)
|
rs397508780
|
|
NM_000492.4(CFTR):c.675T>A (p.Cys225Ter)
|
rs397508781
|
|
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu)
|
rs397508784
|
|
NM_000492.4(CFTR):c.714del (p.Gly239_Leu240insTer)
|
rs397508787
|
|
NM_000492.4(CFTR):c.731T>A (p.Met244Lys)
|
rs397508790
|
|
NM_000492.4(CFTR):c.741C>G (p.Tyr247Ter)
|
rs1800082
|
|
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr)
|
rs397508792
|
|
NM_000492.4(CFTR):c.773del (p.Arg258fs)
|
rs397508794
|
|
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)
|
rs397508796
|
|
NM_000492.4(CFTR):c.80G>A (p.Gly27Glu)
|
rs397508797
|
|
NM_000492.4(CFTR):c.80del (p.Gly27fs)
|
rs397508798
|
|
NM_000492.4(CFTR):c.829T>A (p.Trp277Arg)
|
rs397508800
|
|
NM_000492.4(CFTR):c.833AAG[1] (p.Glu279del)
|
rs397508801
|
|
NM_000492.4(CFTR):c.870-1113_870-1110del
|
rs397508809
|
|
NM_000492.4(CFTR):c.870-3T>G
|
rs397508810
|
|
NM_000492.4(CFTR):c.874G>A (p.Glu292Lys)
|
rs397508811
|
|
NM_000492.4(CFTR):c.877C>A (p.Leu293Met)
|
rs397508812
|
|
NM_000492.4(CFTR):c.881_882del (p.Lys294fs)
|
rs397508813
|
|
NM_000492.4(CFTR):c.88C>T (p.Gln30Ter)
|
rs397508815
|
|
NM_000492.4(CFTR):c.920G>A (p.Ser307Asn)
|
rs397508817
|
|
NM_000492.4(CFTR):c.940G>C (p.Gly314Arg)
|
rs397508819
|
|
NM_000492.4(CFTR):c.980del (p.Leu327fs)
|
rs397508823
|
|
NM_000518.5(HBB):c.435G>T (p.Lys145Asn)
|
rs35020585
|
|
NM_000552.5(VWF):c.221-977_532+7059del
|
|
|
NM_001110792.2(MECP2):c.1152_1237del (p.His384fs)
|
rs1557135314
|
|
NM_001110792.2(MECP2):c.789dup (p.Gly264fs)
|
rs61749751
|
|
NM_001145026.2(PTPRQ):c.837T>A (p.Tyr279Ter)
|
rs183258549
|
|
NM_001298.3(CNGA3):c.827A>G (p.Asn276Ser)
|
rs199474697
|
|
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)
|
rs387906738
|
|
NM_001407648.1(BRCA1):c.548-2429del
|
rs397509289
|
|
NM_002474.3(MYH11):c.3791T>C (p.Leu1264Pro)
|
rs201831933
|
|
NM_003466.4(PAX8):c.165T>G (p.His55Gln)
|
rs121908742
|
|
NM_003476.5(CSRP3):c.160_164delinsAGGGG (p.Ser54_Glu55delinsArgGly)
|
rs281865416
|
|
NM_004530.6(MMP2):c.1217G>A (p.Gly406Asp)
|
rs121908741
|
|
NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg)
|
rs137853969
|
|
NM_005609.4(PYGM):c.1A>C (p.Met1Leu)
|
rs267606993
|
|
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg)
|
rs60261494
|
|
NM_007294.3(BRCA1):c.2995C>A (p.Leu999Ile)
|
rs80356848
|
|
NM_007294.4(BRCA1):c.1040del (p.Leu347fs)
|
rs397508828
|
|
NM_007294.4(BRCA1):c.1063A>T (p.Lys355Ter)
|
rs397508829
|
|
NM_007294.4(BRCA1):c.1076C>T (p.Pro359Leu)
|
rs397508831
|
|
NM_007294.4(BRCA1):c.1080_1081insA (p.Ser361fs)
|
rs397508832
|
|
NM_007294.4(BRCA1):c.1099dup (p.Thr367fs)
|
rs397508835
|
|
NM_007294.4(BRCA1):c.1100dup (p.Thr367_Glu368insTer)
|
rs397508836
|
|
NM_007294.4(BRCA1):c.1112del (p.Pro371fs)
|
rs397508837
|
|
NM_007294.4(BRCA1):c.1122_1123del (p.Leu375fs)
|
rs397508839
|
|
NM_007294.4(BRCA1):c.1158_1159del (p.Ser387fs)
|
rs397508842
|
|
NM_007294.4(BRCA1):c.1159dup (p.Ser387fs)
|
rs397508842
|
|
NM_007294.4(BRCA1):c.1175_1178del (p.Leu392fs)
|
rs397508844
|
|
NM_007294.4(BRCA1):c.1193C>A (p.Ser398Ter)
|
rs80357068
|
|
NM_007294.4(BRCA1):c.1217del (p.Asn406fs)
|
rs397508846
|
|
NM_007294.4(BRCA1):c.122del (p.His41fs)
|
rs397508847
|
|
NM_007294.4(BRCA1):c.1262A>G (p.Glu421Gly)
|
rs397508849
|
|
NM_007294.4(BRCA1):c.1265_1266dup (p.Ser423fs)
|
rs397508850
|
|
NM_007294.4(BRCA1):c.1279G>T (p.Glu427Ter)
|
rs397508851
|
|
NM_007294.4(BRCA1):c.1293_1295delinsGA (p.Leu432fs)
|
rs397508852
|
|
NM_007294.4(BRCA1):c.130T>C (p.Cys44Arg)
|
rs80357327
|
|
NM_007294.4(BRCA1):c.130T>G (p.Cys44Gly)
|
rs80357327
|
|
NM_007294.4(BRCA1):c.1319dup (p.Leu440fs)
|
rs80357683
|
|
NM_007294.4(BRCA1):c.1339dup (p.Val447fs)
|
rs397508855
|
|
NM_007294.4(BRCA1):c.135-6T>G
|
rs397508859
|
|
NM_007294.4(BRCA1):c.1363_1364insGA (p.Asn455fs)
|
rs397508860
|
|
NM_007294.4(BRCA1):c.1380del (p.Phe461fs)
|
rs397508863
|
|
NM_007294.4(BRCA1):c.1393T>G (p.Tyr465Asp)
|
rs397508869
|
|
NM_007294.4(BRCA1):c.1458T>A (p.Phe486Leu)
|
rs80357400
|
|
NM_007294.4(BRCA1):c.1499_1508dup (p.Lys503_Arg504insTer)
|
rs397508873
|
|
NM_007294.4(BRCA1):c.1504_1518del (p.Leu502_Arg506del)
|
rs397508875
|
|
NM_007294.4(BRCA1):c.1506_1510del (p.Leu502_Lys503insTer)
|
rs397508876
|
|
NM_007294.4(BRCA1):c.1517_1521del (p.Arg506fs)
|
rs397508879
|
|
NM_007294.4(BRCA1):c.1519A>T (p.Arg507Ter)
|
rs397508880
|
|
NM_007294.4(BRCA1):c.1544A>G (p.Glu515Gly)
|
rs397508881
|
|
NM_007294.4(BRCA1):c.1565_1566insC (p.Leu523fs)
|
rs397508884
|
|
NM_007294.4(BRCA1):c.1570del (p.Ala524fs)
|
rs397508886
|
|
NM_007294.4(BRCA1):c.1595_1601del (p.Ile532fs)
|
rs397508888
|
|
NM_007294.4(BRCA1):c.160del (p.Gln54fs)
|
rs397508890
|
|
NM_007294.4(BRCA1):c.1631A>C (p.Gln544Pro)
|
rs397508892
|
|
NM_007294.4(BRCA1):c.1655G>T (p.Gly552Val)
|
rs397508893
|
|
NM_007294.4(BRCA1):c.1660G>T (p.Glu554Ter)
|
rs397508894
|
|
NM_007294.4(BRCA1):c.1669A>G (p.Thr557Ala)
|
rs397508895
|
|
NM_007294.4(BRCA1):c.167A>G (p.Lys56Arg)
|
rs397508897
|
|
NM_007294.4(BRCA1):c.168A>T (p.Lys56Asn)
|
rs397508898
|
|
NM_007294.4(BRCA1):c.1690A>C (p.Asn564His)
|
rs397507191
|
|
NM_007294.4(BRCA1):c.1700del (p.Asn567fs)
|
rs80357784
|
|
NM_007294.4(BRCA1):c.1716dup (p.Ser573fs)
|
rs397508900
|
|
NM_007294.4(BRCA1):c.1741A>T (p.Lys581Ter)
|
rs397508905
|
|
NM_007294.4(BRCA1):c.1744A>G (p.Thr582Ala)
|
rs397508906
|
|
NM_007294.4(BRCA1):c.178_179del (p.Gln60fs)
|
rs397508907
|
|
NM_007294.4(BRCA1):c.1817del (p.Pro606fs)
|
rs397508910
|
|
NM_007294.4(BRCA1):c.1846dup (p.Ser616fs)
|
rs397508914
|
|
NM_007294.4(BRCA1):c.188T>C (p.Leu63Ser)
|
rs80357086
|
|
NM_007294.4(BRCA1):c.190_193del (p.Cys64fs)
|
rs397508917
|
|
NM_007294.4(BRCA1):c.1932T>G (p.Cys644Trp)
|
rs397508918
|
|
NM_007294.4(BRCA1):c.1960A>G (p.Lys654Glu)
|
rs80357355
|
|
NM_007294.4(BRCA1):c.1963dup (p.Tyr655fs)
|
rs397508924
|
|
NM_007294.4(BRCA1):c.1967A>G (p.Asn656Ser)
|
rs397508925
|
|
NM_007294.4(BRCA1):c.2012_2013dup (p.Lys672fs)
|
rs397508928
|
|
NM_007294.4(BRCA1):c.2021del (p.Pro674fs)
|
rs397508930
|
|
NM_007294.4(BRCA1):c.2028_2029del (p.Gly677fs)
|
rs397508931
|
|
NM_007294.4(BRCA1):c.2048del (p.Lys683fs)
|
rs397508933
|
|
NM_007294.4(BRCA1):c.2075_2076del (p.His692fs)
|
rs397508936
|
|
NM_007294.4(BRCA1):c.2086del (p.Thr696fs)
|
rs397508937
|
|
NM_007294.4(BRCA1):c.211dup (p.Arg71fs)
|
rs397508938
|
|
NM_007294.4(BRCA1):c.2166del (p.Asn723fs)
|
rs397508943
|
|
NM_007294.4(BRCA1):c.2174del (p.Ser725fs)
|
rs397508944
|
|
NM_007294.4(BRCA1):c.2196del (p.Glu733fs)
|
rs397508948
|
|
NM_007294.4(BRCA1):c.2211_2212del (p.Thr737_Val738insTer)
|
rs397508950
|
|
NM_007294.4(BRCA1):c.2308del (p.Ser770fs)
|
rs397508956
|
|
NM_007294.4(BRCA1):c.230C>G (p.Thr77Arg)
|
rs80357209
|
|
NM_007294.4(BRCA1):c.230delinsGTCAACTTGTT (p.Thr77fs)
|
rs397508957
|
|
NM_007294.4(BRCA1):c.2310_2311insC (p.Val772fs)
|
rs1555589947
|
|
NM_007294.4(BRCA1):c.2325_2326insA (p.Asp776fs)
|
rs397508959
|
|
NM_007294.4(BRCA1):c.2389del (p.Glu797fs)
|
rs397508965
|
|
NM_007294.4(BRCA1):c.2413T>C (p.Cys805Arg)
|
rs397508966
|
|
NM_007294.4(BRCA1):c.2440_2441insA (p.Leu814fs)
|
rs397508969
|
|
NM_007294.4(BRCA1):c.2486_2487del (p.Gly828_Phe829insTer)
|
rs80357658
|
|
NM_007294.4(BRCA1):c.2551del (p.Glu851fs)
|
rs397508977
|
|
NM_007294.4(BRCA1):c.2556del (p.Asp853fs)
|
rs397508978
|
|
NM_007294.4(BRCA1):c.2556dup (p.Asp853Ter)
|
rs397508978
|
|
NM_007294.4(BRCA1):c.2564_2565insTTGAT (p.Gln855delinsHisTer)
|
rs397508982
|
|
NM_007294.4(BRCA1):c.2600A>G (p.Gln867Arg)
|
rs397508985
|
|
NM_007294.4(BRCA1):c.2603C>A (p.Ser868Ter)
|
rs80356925
|
|
NM_007294.4(BRCA1):c.2659_2660insA (p.Ala887fs)
|
rs397508991
|
|
NM_007294.4(BRCA1):c.2665dup (p.Ser889fs)
|
rs397508992
|
|
NM_007294.4(BRCA1):c.2671del (p.Ser891fs)
|
rs397508993
|
|
NM_007294.4(BRCA1):c.2675T>C (p.Leu892Ser)
|
rs397508994
|
|
NM_007294.4(BRCA1):c.2679_2680del (p.Lys894fs)
|
rs397508995
|
|
NM_007294.4(BRCA1):c.2689_2690insA (p.Pro897fs)
|
rs397508999
|
|
NM_007294.4(BRCA1):c.2728C>T (p.Gln910Ter)
|
rs397509004
|
|
NM_007294.4(BRCA1):c.273T>G (p.Cys91Trp)
|
rs397509006
|
|
NM_007294.4(BRCA1):c.2745dup (p.Asn916Ter)
|
rs397509008
|
|
NM_007294.4(BRCA1):c.2798_2799del (p.Gly933fs)
|
rs397509011
|
|
NM_007294.4(BRCA1):c.2812_2813del (p.Pro938fs)
|
rs730882056
|
|
NM_007294.4(BRCA1):c.2844_2853del (p.Gly949fs)
|
rs397509017
|
|
NM_007294.4(BRCA1):c.2848dup (p.Ser950fs)
|
rs397509018
|
|
NM_007294.4(BRCA1):c.2870dup (p.Phe958fs)
|
rs397509020
|
|
NM_007294.4(BRCA1):c.2872_2876del (p.Phe958fs)
|
rs397509021
|
|
NM_007294.4(BRCA1):c.2879G>A (p.Gly960Asp)
|
rs397509022
|
|
NM_007294.4(BRCA1):c.2921dup (p.Leu974fs)
|
rs80357611
|
|
NM_007294.4(BRCA1):c.2929_2930dup (p.Tyr978fs)
|
rs397509025
|
|
NM_007294.4(BRCA1):c.2967del (p.Phe989fs)
|
rs397509028
|
|
NM_007294.4(BRCA1):c.3072C>G (p.Ser1024Arg)
|
rs397509033
|
|
NM_007294.4(BRCA1):c.3074C>T (p.Thr1025Ile)
|
rs397509034
|
|
NM_007294.4(BRCA1):c.3125_3134del (p.Ser1042fs)
|
rs397509036
|
|
NM_007294.4(BRCA1):c.3140T>C (p.Val1047Ala)
|
rs397509037
|
|
NM_007294.4(BRCA1):c.3152C>G (p.Thr1051Ser)
|
rs397509039
|
|
NM_007294.4(BRCA1):c.3157del (p.Glu1053fs)
|
rs397509041
|
|
NM_007294.4(BRCA1):c.3157dup (p.Glu1053fs)
|
rs397509042
|
|
NM_007294.4(BRCA1):c.3164del (p.Gly1055fs)
|
rs397509043
|
|
NM_007294.4(BRCA1):c.3169_3172del (p.Ser1057fs)
|
rs397509045
|
|
NM_007294.4(BRCA1):c.3183del (p.Ile1061fs)
|
rs397509046
|
|
NM_007294.4(BRCA1):c.3211dup (p.Glu1071fs)
|
rs397509047
|
|
NM_007294.4(BRCA1):c.3228A>T (p.Arg1076Ser)
|
rs397509048
|
|
NM_007294.4(BRCA1):c.3289del (p.Ser1097fs)
|
rs80357686
|
|
NM_007294.4(BRCA1):c.329A>C (p.Lys110Thr)
|
rs397509053
|
|
NM_007294.4(BRCA1):c.3359_3363del (p.Val1120fs)
|
rs397509060
|
|
NM_007294.4(BRCA1):c.340T>C (p.Ser114Pro)
|
rs397509062
|
|
NM_007294.4(BRCA1):c.3413del (p.Gly1138fs)
|
rs397509063
|
|
NM_007294.4(BRCA1):c.3416del (p.Ser1139fs)
|
rs397509064
|
|
NM_007294.4(BRCA1):c.3420dup (p.His1141fs)
|
rs397509065
|
|
NM_007294.4(BRCA1):c.3450del (p.Asp1151fs)
|
rs397509068
|
|
NM_007294.4(BRCA1):c.3450dup (p.Asp1151Ter)
|
rs397509069
|
|
NM_007294.4(BRCA1):c.3468del (p.Asp1156fs)
|
rs397509070
|
|
NM_007294.4(BRCA1):c.346G>A (p.Glu116Lys)
|
rs397509071
|
|
NM_007294.4(BRCA1):c.3479_3488del (p.Lys1160fs)
|
rs397509073
|
|
NM_007294.4(BRCA1):c.3481del (p.Glu1161fs)
|
rs397509074
|
|
NM_007294.4(BRCA1):c.3491G>T (p.Ser1164Ile)
|
rs397509075
|
|
NM_007294.4(BRCA1):c.3505_3509del (p.Asn1168_Asp1169insTer)
|
rs397509078
|
|
NM_007294.4(BRCA1):c.3540_3541del (p.Val1181fs)
|
rs397509080
|
|
NM_007294.4(BRCA1):c.3549_3550del (p.Gly1184fs)
|
rs730882057
|
|
NM_007294.4(BRCA1):c.3575_3576insAA (p.Phe1193fs)
|
rs397509082
|
|
NM_007294.4(BRCA1):c.3613G>C (p.Gly1205Arg)
|
rs80357294
|
|
NM_007294.4(BRCA1):c.3621_3626delinsAA (p.Leu1209fs)
|
rs397509087
|
|
NM_007294.4(BRCA1):c.3626dup (p.Leu1209fs)
|
rs80357571
|
|
NM_007294.4(BRCA1):c.3647T>G (p.Leu1216Ter)
|
rs397509091
|
|
NM_007294.4(BRCA1):c.3649dup (p.Ser1217fs)
|
rs1555587345
|
|
NM_007294.4(BRCA1):c.3715del (p.Ser1239fs)
|
rs397509096
|
|
NM_007294.4(BRCA1):c.3716dup (p.Gln1240fs)
|
rs397509097
|
|
NM_007294.4(BRCA1):c.3722C>G (p.Ser1241Cys)
|
rs80357143
|
|
NM_007294.4(BRCA1):c.3758C>A (p.Ser1253Tyr)
|
rs397509100
|
|
NM_007294.4(BRCA1):c.3771_3778del (p.Glu1257fs)
|
rs397509104
|
|
NM_007294.4(BRCA1):c.3772G>T (p.Glu1258Ter)
|
rs397509105
|
|
NM_007294.4(BRCA1):c.3782T>G (p.Leu1261Ter)
|
rs397507219
|
|
NM_007294.4(BRCA1):c.3822_3823insT (p.Ile1275fs)
|
rs397509111
|
|
NM_007294.4(BRCA1):c.3829G>C (p.Ala1277Pro)
|
rs397509112
|
|
NM_007294.4(BRCA1):c.3871_3872insC (p.Cys1291fs)
|
rs397509114
|
|
NM_007294.4(BRCA1):c.3876del (p.Ala1293fs)
|
rs397509115
|
|
NM_007294.4(BRCA1):c.3880_3883del (p.Ser1294fs)
|
rs397509116
|
|
NM_007294.4(BRCA1):c.38_39delinsGGG (p.Asn13fs)
|
rs1567823382
|
|
NM_007294.4(BRCA1):c.3927_3930del (p.Asn1309fs)
|
rs397509120
|
|
NM_007294.4(BRCA1):c.3982dup (p.Ser1328fs)
|
rs397509124
|
|
NM_007294.4(BRCA1):c.3999del (p.Gly1334fs)
|
rs397509125
|
|
NM_007294.4(BRCA1):c.4029TGA[1] (p.Asp1344del)
|
rs397509129
|
|
NM_007294.4(BRCA1):c.4072G>A (p.Glu1358Lys)
|
rs397509136
|
|
NM_007294.4(BRCA1):c.4094del (p.Asn1364_Leu1365insTer)
|
rs397509138
|
|
NM_007294.4(BRCA1):c.4116T>A (p.Cys1372Ter)
|
rs397509140
|
|
NM_007294.4(BRCA1):c.4167del (p.Ser1389fs)
|
rs397509145
|
|
NM_007294.4(BRCA1):c.4172T>C (p.Ile1391Thr)
|
rs397509146
|
|
NM_007294.4(BRCA1):c.4183_4185delCAG (p.Gln1396del)
|
rs397509147
|
|
NM_007294.4(BRCA1):c.4186-1G>A
|
rs397509150
|
|
NM_007294.4(BRCA1):c.4237G>T (p.Glu1413Ter)
|
rs397509153
|
|
NM_007294.4(BRCA1):c.4242_4243insT (p.Glu1415Ter)
|
rs397509155
|
|
NM_007294.4(BRCA1):c.4253T>G (p.Leu1418Ter)
|
rs397509157
|
|
NM_007294.4(BRCA1):c.4282_4283del (p.Ser1428fs)
|
rs397509159
|
|
NM_007294.4(BRCA1):c.4307_4308del (p.Ser1436fs)
|
rs397509161
|
|
NM_007294.4(BRCA1):c.4343G>C (p.Ser1448Thr)
|
rs80357354
|
|
NM_007294.4(BRCA1):c.4357+6T>G
|
rs80358143
|
|
NM_007294.4(BRCA1):c.437_440del (p.Ser146fs)
|
rs397509168
|
|
NM_007294.4(BRCA1):c.4391dup (p.Ile1465fs)
|
rs80357916
|
|
NM_007294.4(BRCA1):c.4396del (p.Ser1466fs)
|
rs397509170
|
|
NM_007294.4(BRCA1):c.4447del (p.Ser1483fs)
|
rs397509177
|
|
NM_007294.4(BRCA1):c.4452_4455del (p.Thr1485fs)
|
rs397509178
|
|
NM_007294.4(BRCA1):c.4471C>G (p.Pro1491Ala)
|
rs111034213
|
|
NM_007294.4(BRCA1):c.4534_4535del (p.Ser1512fs)
|
rs397509183
|
|
NM_007294.4(BRCA1):c.457_458del (p.Ser153fs)
|
rs397509185
|
|
NM_007294.4(BRCA1):c.463C>T (p.Gln155Ter)
|
rs80357180
|
|
NM_007294.4(BRCA1):c.470_477del (p.Ser157fs)
|
rs397509190
|
|
NM_007294.4(BRCA1):c.472A>T (p.Asn158Tyr)
|
rs397509192
|
|
NM_007294.4(BRCA1):c.4743A>C (p.Glu1581Asp)
|
rs397509194
|
|
NM_007294.4(BRCA1):c.4764del (p.Arg1589fs)
|
rs397509196
|
|
NM_007294.4(BRCA1):c.4777A>T (p.Ile1593Leu)
|
rs397509197
|
|
NM_007294.4(BRCA1):c.4836dup (p.Ser1613fs)
|
rs397509198
|
|
NM_007294.4(BRCA1):c.488del (p.Arg163fs)
|
rs397509202
|
|
NM_007294.4(BRCA1):c.4910del (p.Pro1637fs)
|
rs397509204
|
|
NM_007294.4(BRCA1):c.4986+5G>T
|
rs397509211
|
|
NM_007294.4(BRCA1):c.4996T>C (p.Tyr1666His)
|
rs397509215
|
|
NM_007294.4(BRCA1):c.5058T>A (p.His1686Gln)
|
rs397509218
|
|
NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5075-1G>T
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5075-4G>A
|
rs397509220
|
|
NM_007294.4(BRCA1):c.5075_5078del (p.Asp1692fs)
|
rs397509223
|
|
NM_007294.4(BRCA1):c.5077_5080delinsTTCATTCTGC (p.Ala1693_Glu1694delinsPheIleLeuGln)
|
rs397509224
|
|
NM_007294.4(BRCA1):c.5087T>A (p.Val1696Glu)
|
rs397509226
|
|
NM_007294.4(BRCA1):c.5152+4A>G
|
rs397509232
|
|
NM_007294.4(BRCA1):c.5153-1G>T
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5179_5192del (p.Lys1727fs)
|
rs397509234
|
|
NM_007294.4(BRCA1):c.5182del (p.Met1728fs)
|
rs34570933
|
|
NM_007294.4(BRCA1):c.5194-2A>C
|
rs80358069
|
|
NM_007294.4(BRCA1):c.5201T>C (p.Phe1734Ser)
|
rs397509237
|
|
NM_007294.4(BRCA1):c.5203G>A (p.Glu1735Lys)
|
rs397509238
|
|
NM_007294.4(BRCA1):c.5207del (p.Val1736fs)
|
rs397509239
|
|
NM_007294.4(BRCA1):c.5231del (p.Arg1744fs)
|
rs397509241
|
|
NM_007294.4(BRCA1):c.5241A>C (p.Gln1747His)
|
rs397509242
|
|
NM_007294.4(BRCA1):c.5242G>A (p.Gly1748Ser)
|
rs397507245
|
|
NM_007294.4(BRCA1):c.5245C>G (p.Pro1749Ala)
|
rs397509244
|
|
NM_007294.4(BRCA1):c.5258G>A (p.Arg1753Lys)
|
rs397509246
|
|
NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr)
|
rs397509246
|
|
NM_007294.4(BRCA1):c.5270_5276del (p.Asp1757fs)
|
rs397509248
|
|
NM_007294.4(BRCA1):c.5277+1G>C
|
rs80358150
|
|
NM_007294.4(BRCA1):c.5277+21T>G
|
rs397509249
|
|
NM_007294.4(BRCA1):c.5277+3A>C
|
rs397509250
|
|
NM_007294.4(BRCA1):c.5277+4A>T
|
rs397509251
|
|
NM_007294.4(BRCA1):c.5277+5A>T
|
rs397509252
|
|
NM_007294.4(BRCA1):c.5278-2A>T
|
rs397509253
|
|
NM_007294.4(BRCA1):c.5278-6_5278-4del
|
rs397509254
|
|
NM_007294.4(BRCA1):c.5293G>T (p.Glu1765Ter)
|
rs397509256
|
|
NM_007294.4(BRCA1):c.5323_5324del (p.Met1775fs)
|
rs397509262
|
|
NM_007294.4(BRCA1):c.5332+1del
|
rs397509263
|
|
NM_007294.4(BRCA1):c.5332G>C (p.Asp1778His)
|
rs80357112
|
|
NM_007294.4(BRCA1):c.5332G>T (p.Asp1778Tyr)
|
rs80357112
|
|
NM_007294.4(BRCA1):c.5333-6T>G
|
rs397509266
|
|
NM_007294.4(BRCA1):c.5355G>T (p.Gln1785His)
|
rs397509269
|
|
NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys)
|
rs397509271
|
|
NM_007294.4(BRCA1):c.5369_5385del (p.Ser1790fs)
|
rs397509272
|
|
NM_007294.4(BRCA1):c.536del (p.Tyr179fs)
|
rs397509273
|
|
NM_007294.4(BRCA1):c.5377A>T (p.Lys1793Ter)
|
rs397509274
|
|
NM_007294.4(BRCA1):c.5382G>T (p.Glu1794Asp)
|
rs397509275
|
|
NM_007294.4(BRCA1):c.5414A>C (p.His1805Pro)
|
rs397509281
|
|
NM_007294.4(BRCA1):c.5467+5G>C
|
rs397509287
|
|
NM_007294.4(BRCA1):c.5467+8G>T
|
rs80358062
|
|
NM_007294.4(BRCA1):c.5497_5506del (p.Val1833fs)
|
rs273902775
|
|
NM_007294.4(BRCA1):c.5532_5533insG (p.Tyr1845fs)
|
rs397509293
|
|
NM_007294.4(BRCA1):c.5559C>G (p.Tyr1853Ter)
|
rs80357336
|
|
NM_007294.4(BRCA1):c.557C>T (p.Ser186Phe)
|
rs55688530
|
|
NM_007294.4(BRCA1):c.594-2A>G
|
rs80358033
|
|
NM_007294.4(BRCA1):c.624_625insAGGGATGAAATCAGGAGCCA (p.Pro209fs)
|
rs397509302
|
|
NM_007294.4(BRCA1):c.62dup (p.Glu23fs)
|
rs397509303
|
|
NM_007294.4(BRCA1):c.64_65del (p.Leu22fs)
|
rs397509304
|
|
NM_007294.4(BRCA1):c.668A>G (p.Lys223Arg)
|
rs397509306
|
|
NM_007294.4(BRCA1):c.66_67insC (p.Glu23fs)
|
rs1555600909
|
|
NM_007294.4(BRCA1):c.677_678insC (p.Cys226_Glu227insTer)
|
rs397509307
|
|
NM_007294.4(BRCA1):c.72_73del (p.Pro25fs)
|
rs397509311
|
|
NM_007294.4(BRCA1):c.73C>A (p.Pro25Thr)
|
rs397509313
|
|
NM_007294.4(BRCA1):c.742dup (p.Thr248fs)
|
rs397509314
|
|
NM_007294.4(BRCA1):c.75_80dup (p.Cys27_Leu28insIleCys)
|
rs397509315
|
|
NM_007294.4(BRCA1):c.768_769insA (p.His257fs)
|
rs397509316
|
|
NM_007294.4(BRCA1):c.768_769insAG (p.His257fs)
|
rs1555593156
|
|
NM_007294.4(BRCA1):c.787G>T (p.Gly263Cys)
|
rs397509318
|
|
NM_007294.4(BRCA1):c.788G>C (p.Gly263Ala)
|
rs397509319
|
|
NM_007294.4(BRCA1):c.788G>T (p.Gly263Val)
|
rs397509319
|
|
NM_007294.4(BRCA1):c.790A>T (p.Ser264Cys)
|
rs397509321
|
|
NM_007294.4(BRCA1):c.791G>A (p.Ser264Asn)
|
rs397509322
|
|
NM_007294.4(BRCA1):c.80+6_80+9del
|
rs397509325
|
|
NM_007294.4(BRCA1):c.81-6T>A
|
rs80358179
|
|
NM_007294.4(BRCA1):c.814_824dup (p.Thr276fs)
|
rs1555593031
|
|
NM_007294.4(BRCA1):c.827_828insT (p.Asn277fs)
|
rs397509329
|
|
NM_007294.4(BRCA1):c.8T>G (p.Leu3Ter)
|
rs397509332
|
|
NM_007294.4(BRCA1):c.903_904insC (p.Ala302fs)
|
rs397509333
|
|
NM_007294.4(BRCA1):c.909del (p.Glu303fs)
|
rs397509334
|
|
NM_007294.4(BRCA1):c.961del (p.Trp321fs)
|
rs397509340
|
|
NM_007294.4(BRCA1):c.985_986del (p.Cys328_Asn329insTer)
|
rs397509341
|
|
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter)
|
rs199474695
|
|
NM_014363.6(SACS):c.5263_5264del (p.Lys1755fs)
|
rs199474696
|
|
NM_017866.6(TMEM70):c.494G>A (p.Gly165Asp)
|
rs121908743
|
|
NM_032581.4(HYCC1):c.414+1G>C
|
rs72549406
|
|
NM_033360.4(KRAS):c.347A>G (p.Asn116Ser)
|
rs202247812
|
|
NM_139276.3(STAT3):c.1140-2A>C
|
rs137854908
|
|