ClinVar Miner

List of variants reported as not provided by ClinVar Staff, National Center for Biotechnology Information (NCBI)

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 993
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HGVS dbSNP gnomAD frequency
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

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