ClinVar Miner

List of variants reported as likely pathogenic for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1391
Download table as spreadsheet
HGVS dbSNP
NC_000005.10:g.(?_132575771)_(132580072_?)del
NC_000005.10:g.(?_132637105)_(132640815_?)dup
NC_000005.10:g.(?_132637109)_(132640811_?)dup
NM_000038.5(APC):c.1312+3A>C rs863225311
NM_000038.5(APC):c.1312+3A>G rs863225311
NM_000038.5(APC):c.135+1G>T rs750508765
NM_000038.5(APC):c.135+2T>C rs1554067164
NM_000038.5(APC):c.136-1G>A rs1554069481
NM_000038.5(APC):c.1409-2A>T rs1064794163
NM_000038.5(APC):c.1409-3T>G rs1554081629
NM_000038.5(APC):c.1626+2T>G rs876658858
NM_000038.5(APC):c.1743+1G>T rs761458613
NM_000038.5(APC):c.1743G>C (p.Lys581Asn) rs1114167592
NM_000038.5(APC):c.1902T>G (p.Ser634Arg) rs876659460
NM_000038.5(APC):c.1958G>A (p.Arg653Lys) rs1060503318
NM_000038.5(APC):c.1959-2A>G rs876658214
NM_000038.5(APC):c.220+2T>A rs587781809
NM_000038.5(APC):c.221-1G>A rs863225327
NM_000038.5(APC):c.221-1G>C rs863225327
NM_000038.5(APC):c.221-2A>G rs786201291
NM_000038.5(APC):c.3077A>C (p.Asn1026Thr) rs1114167603
NM_000038.5(APC):c.3083G>A (p.Ser1028Asn) rs1114167617
NM_000038.5(APC):c.3084T>A (p.Ser1028Arg) rs876660265
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.422+2T>G rs879254169
NM_000038.5(APC):c.423-3T>A rs587782293
NM_000038.5(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.5(APC):c.531+2T>A rs863225365
NM_000038.5(APC):c.531+3A>C rs1114167550
NM_000038.5(APC):c.531+5G>C rs587779798
NM_000038.5(APC):c.6281delC (p.Pro2094Leufs) rs876660816
NM_000038.5(APC):c.645+2T>G rs786202351
NM_000038.5(APC):c.7692dup (p.Arg2565Glufs) rs1554088600
NM_000038.5(APC):c.834G>A (p.Gln278=) rs1060503261
NM_000038.5(APC):c.8514C>A (p.Tyr2838Ter) rs876660375
NM_000038.5(APC):c.8514C>G (p.Tyr2838Ter) rs876660375
NM_000038.5(APC):c.933+2T>C rs1057517559
NM_000051.3(ATM):c.-30-1G>T rs869312754
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.1065+1G>T rs201089102
NM_000051.3(ATM):c.1066-1G>A rs876660038
NM_000051.3(ATM):c.1066-2A>T rs1555069514
NM_000051.3(ATM):c.1236-2A>G rs80159221
NM_000051.3(ATM):c.1547T>C (p.Leu516Ser) rs786202195
NM_000051.3(ATM):c.1783_1802+91del rs1555072063
NM_000051.3(ATM):c.186-1G>A rs1259911051
NM_000051.3(ATM):c.1899-1G>A rs1555073065
NM_000051.3(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.3(ATM):c.2250+2T>C rs1555075037
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2251-1G>C rs876659710
NM_000051.3(ATM):c.2376+1G>A rs730881347
NM_000051.3(ATM):c.2376+1G>C rs730881347
NM_000051.3(ATM):c.2377-2A>G rs1057516553
NM_000051.3(ATM):c.2467-2A>C rs1555082050
NM_000051.3(ATM):c.2467-2A>G
NM_000051.3(ATM):c.2638+1delG rs1131691153
NM_000051.3(ATM):c.2638+2T>C rs587779826
NM_000051.3(ATM):c.2639-384A>G rs1131691154
NM_000051.3(ATM):c.2838+1G>T rs1555083469
NM_000051.3(ATM):c.2839-2A>G rs1060501703
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.3(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.3(ATM):c.2921+1G>C rs587781558
NM_000051.3(ATM):c.2921+1G>T rs587781558
NM_000051.3(ATM):c.2922-1G>T rs1555084931
NM_000051.3(ATM):c.3078-1G>A rs750663117
NM_000051.3(ATM):c.3284+1G>A rs864622129
NM_000051.3(ATM):c.3284G>A (p.Arg1095Lys) rs587781815
NM_000051.3(ATM):c.331+1G>A rs1555055356
NM_000051.3(ATM):c.332-1G>A rs747855862
NM_000051.3(ATM):c.3402+1G>C
NM_000051.3(ATM):c.3402+2T>C rs876659430
NM_000051.3(ATM):c.3403-1G>A rs1555091120
NM_000051.3(ATM):c.3576+1G>A rs876660621
NM_000051.3(ATM):c.3576+1G>T rs876660621
NM_000051.3(ATM):c.3576G>T (p.Lys1192Asn) rs587776551
NM_000051.3(ATM):c.3577-1G>C rs1057517226
NM_000051.3(ATM):c.3712_3716delTTATT (p.Leu1238Lysfs) rs786201675
NM_000051.3(ATM):c.3747-1G>C rs730881364
NM_000051.3(ATM):c.3848T>C (p.Leu1283Pro) rs730881389
NM_000051.3(ATM):c.3993+1G>A rs200196781
NM_000051.3(ATM):c.3994-1G>T rs1057516238
NM_000051.3(ATM):c.3994-2A>C rs587782276
NM_000051.3(ATM):c.3994-2A>G rs587782276
NM_000051.3(ATM):c.4236+1G>T rs876660674
NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.3(ATM):c.4397_4398delGAinsCG (p.Arg1466Pro) rs886038217
NM_000051.3(ATM):c.4436+2T>C rs1555097898
NM_000051.3(ATM):c.4611+1delG
NM_000051.3(ATM):c.4612-3_4616delTAGGTATT
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.4776+1G>T rs771117943
NM_000051.3(ATM):c.4776+2T>A rs587781927
NM_000051.3(ATM):c.4776+2_4776+13delTAATAAAAATTT rs762838462
NM_000051.3(ATM):c.4910-2A>T rs1555103156
NM_000051.3(ATM):c.496+1G>A rs876658500
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.5177+5G>A rs759373136
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.5319+1G>A rs876660175
NM_000051.3(ATM):c.5319+2T>C rs1555105842
NM_000051.3(ATM):c.5497-1G>A rs876660245
NM_000051.3(ATM):c.5497-2A>G rs786203796
NM_000051.3(ATM):c.5674+1G>T
NM_000051.3(ATM):c.5762+1G>A rs869312756
NM_000051.3(ATM):c.5762+1G>T rs869312756
NM_000051.3(ATM):c.5763-2A>C rs876659489
NM_000051.3(ATM):c.5763-2A>G rs876659489
NM_000051.3(ATM):c.5858C>T (p.Thr1953Ile) rs587781963
NM_000051.3(ATM):c.5919-2A>G rs746623393
NM_000051.3(ATM):c.6006+1G>A rs786202016
NM_000051.3(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.3(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415
NM_000051.3(ATM):c.6095+1G>A rs587781584
NM_000051.3(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.3(ATM):c.6572+1G>A rs587779856
NM_000051.3(ATM):c.6976-2A>C rs587782403
NM_000051.3(ATM):c.6976-2A>G rs587782403
NM_000051.3(ATM):c.7013T>C (p.Leu2338Pro) rs1555120997
NM_000051.3(ATM):c.7089+1G>A rs777741666
NM_000051.3(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.3(ATM):c.72+1G>A rs786204088
NM_000051.3(ATM):c.73-1G>A rs1555054043
NM_000051.3(ATM):c.73-3C>G rs1555054039
NM_000051.3(ATM):c.7308-1G>C rs1555122941
NM_000051.3(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.3(ATM):c.7570G>C (p.Ala2524Pro) rs769142993
NM_000051.3(ATM):c.7629+2T>C rs786203059
NM_000051.3(ATM):c.7630-2A>G rs587779866
NM_000051.3(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.3(ATM):c.7789-3T>G rs864622185
NM_000051.3(ATM):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.3(ATM):c.7928-1G>A rs1555126163
NM_000051.3(ATM):c.7928-2A>G rs864622610
NM_000051.3(ATM):c.7989_7991delTGT (p.Val2664del) rs876660743
NM_000051.3(ATM):c.8010+1delG rs876659350
NM_000051.3(ATM):c.8011-1G>C rs1555127017
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8146G>T (p.Val2716Phe) rs730881385
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000051.3(ATM):c.8152-1G>A rs1398616877
NM_000051.3(ATM):c.8152-2A>G rs777602049
NM_000051.3(ATM):c.8268+1G>T rs876658957
NM_000051.3(ATM):c.8269-1G>C
NM_000051.3(ATM):c.8418+2T>C rs1060501713
NM_000051.3(ATM):c.8419-1G>C rs1555137920
NM_000051.3(ATM):c.8425C>T (p.Gln2809Ter)
NM_000051.3(ATM):c.8495G>C (p.Arg2832Pro) rs529296539
NM_000051.3(ATM):c.8546G>C (p.Arg2849Pro) rs587782202
NM_000051.3(ATM):c.8565T>G (p.Ser2855Arg) rs780905851
NM_000051.3(ATM):c.8565_8566delTGinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.3(ATM):c.8584+1G>A rs876658182
NM_000051.3(ATM):c.8584+2T>C rs730881326
NM_000051.3(ATM):c.8585-1G>A rs876660066
NM_000051.3(ATM):c.8672-1G>T rs876660088
NM_000051.3(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.3(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.3(ATM):c.8737G>T (p.Asp2913Tyr) rs756899044
NM_000051.3(ATM):c.875C>T (p.Pro292Leu) rs747727055
NM_000051.3(ATM):c.8850+1G>A rs1555143620
NM_000051.3(ATM):c.8850+2T>C rs1555143623
NM_000051.3(ATM):c.8988-1G>A rs730881386
NM_000051.3(ATM):c.8988-2A>G rs786202087
NM_000051.3(ATM):c.901+2T>C
NM_000051.3(ATM):c.9023G>A (p.Arg3008His) rs587781894
NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter) rs121434219
NM_000051.3:c.6082delC
NM_000057.3(BLM):c.3558+1G>T rs148969222
NM_000059.3(BRCA2):c.1909+1G>A rs587781629
NM_000059.3(BRCA2):c.1909+2T>A rs876658577
NM_000059.3(BRCA2):c.1910-1G>T
NM_000059.3(BRCA2):c.316+1G>A rs397507303
NM_000059.3(BRCA2):c.316+1G>T rs397507303
NM_000059.3(BRCA2):c.425+1G>A rs587782590
NM_000059.3(BRCA2):c.425G>A (p.Ser142Asn) rs397507713
NM_000059.3(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.3(BRCA2):c.475+1G>T rs81002797
NM_000059.3(BRCA2):c.475+4delT rs276174848
NM_000059.3(BRCA2):c.475G>A (p.Val159Met) rs80358702
NM_000059.3(BRCA2):c.476-1G>A rs397507340
NM_000059.3(BRCA2):c.476-4_476-1delCCAGinsT rs587782880
NM_000059.3(BRCA2):c.517-2A>G rs81002858
NM_000059.3(BRCA2):c.6100delCinsTA (p.Arg2034Terfs)
NM_000059.3(BRCA2):c.631G>C (p.Val211Leu) rs80358871
NM_000059.3(BRCA2):c.632-1G>T rs81002820
NM_000059.3(BRCA2):c.632-2A>C rs397507842
NM_000059.3(BRCA2):c.6421_6424dup (p.Ser2142Trpfs)
NM_000059.3(BRCA2):c.68-1G>A rs1060502376
NM_000059.3(BRCA2):c.68-2A>G rs769152395
NM_000059.3(BRCA2):c.681+2dupT rs587781486
NM_000059.3(BRCA2):c.682-1G>C rs81002831
NM_000059.3(BRCA2):c.6938-2A>G rs81002863
NM_000059.3(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.3(BRCA2):c.7008-1G>A rs786204280
NM_000059.3(BRCA2):c.7008-2A>T rs81002823
NM_000059.3(BRCA2):c.7435+2T>C rs1434072252
NM_000059.3(BRCA2):c.7436-2_7437delAGAT rs876659229
NM_000059.3(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.3(BRCA2):c.7618-2A>G rs886040940
NM_000059.3(BRCA2):c.7805+1G>A rs81002809
NM_000059.3(BRCA2):c.7806-2A>G rs81002836
NM_000059.3(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000059.3(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.3(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.3(BRCA2):c.793+1G>A rs81002846
NM_000059.3(BRCA2):c.793+1G>C rs81002846
NM_000059.3(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.3(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.3(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.3(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.3(BRCA2):c.7976+2C>G rs886040943
NM_000059.3(BRCA2):c.7976+5G>A rs786201180
NM_000059.3(BRCA2):c.7976+5G>T rs786201180
NM_000059.3(BRCA2):c.7977-1G>T rs81002874
NM_000059.3(BRCA2):c.7978T>G (p.Tyr2660Asp) rs80359029
NM_000059.3(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.3(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.3(BRCA2):c.8057T>C (p.Leu2686Pro) rs28897746
NM_000059.3(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045
NM_000059.3(BRCA2):c.8165C>A (p.Thr2722Lys) rs80359062
NM_000059.3(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.3(BRCA2):c.8167G>A (p.Asp2723Asn) rs41293511
NM_000059.3(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.3(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.3(BRCA2):c.8169T>A (p.Asp2723Glu) rs1060502432
NM_000059.3(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064
NM_000059.3(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.3(BRCA2):c.8331+1G>A rs81002837
NM_000059.3(BRCA2):c.8331+2T>C rs398122602
NM_000059.3(BRCA2):c.8331+2T>G rs398122602
NM_000059.3(BRCA2):c.8332-2A>G rs587782774
NM_000059.3(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075
NM_000059.3(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.3(BRCA2):c.8487+3A>G rs81002806
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.8488-1_8496del10insCT rs1555287731
NM_000059.3(BRCA2):c.8632+1G>A rs397507997
NM_000059.3(BRCA2):c.8633-24_8634del rs886040945
NM_000059.3(BRCA2):c.8754+1G>T rs397508006
NM_000059.3(BRCA2):c.8754+3G>C rs397508007
NM_000059.3(BRCA2):c.8754+4A>T rs81002893
NM_000059.3(BRCA2):c.8754+5G>A rs81002813
NM_000059.3(BRCA2):c.8754G>A (p.Glu2918=) rs80359803
NM_000059.3(BRCA2):c.8755-1G>A rs81002812
NM_000059.3(BRCA2):c.8755-1G>C rs81002812
NM_000059.3(BRCA2):c.8948_8953+5delATTCAGGTAAG rs276174915
NM_000059.3(BRCA2):c.8953+1G>A rs81002882
NM_000059.3(BRCA2):c.8954-5A>G rs886040949
NM_000059.3(BRCA2):c.8975_9100del126 (p.Pro2992_Thr3033del) rs80359736
NM_000059.3(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.3(BRCA2):c.9082G>C (p.Ala3028Pro) rs80359161
NM_000059.3(BRCA2):c.9117+1delG rs869320801
NM_000059.3(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.3(BRCA2):c.9227G>T (p.Gly3076Val) rs80359187
NM_000059.3(BRCA2):c.9256+2T>C rs1555288591
NM_000059.3(BRCA2):c.9257-1G>A rs81002889
NM_000059.3(BRCA2):c.9257-2A>G rs886040954
NM_000059.3(BRCA2):c.9502-2A>C rs81002868
NM_000059.3(BRCA2):c.9561T>A (p.Asn3187Lys) rs587782612
NM_000059.3(BRCA2):c.9649-1G>C rs1555289898
NM_000059.3(BRCA2):c.9748dup (p.Ser3250Phefs) rs886040850
NM_000059.3(BRCA2):c.9850_9866del (p.Ser3284Cysfs)
NM_000059.3:c.8808delG
NM_000077.4(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548
NM_000077.4(CDKN2A):c.149A>C (p.Gln50Pro) rs587778189
NM_000077.4(CDKN2A):c.151-2A>G rs1554654224
NM_000077.4(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.4(CDKN2A):c.179C>A (p.Ala60Glu) rs36204594
NM_000077.4(CDKN2A):c.202_203delGCinsTT (p.Ala68Leu) rs876658534
NM_000077.4(CDKN2A):c.203C>T (p.Ala68Val) rs1060501260
NM_000077.4(CDKN2A):c.206A>G (p.Glu69Gly) rs372670098
NM_000077.4(CDKN2A):c.212A>G (p.Asn71Ser) rs559848002
NM_000077.4(CDKN2A):c.212delA (p.Asn71Thrfs) rs876658220
NM_000077.4(CDKN2A):c.249C>A (p.His83Gln) rs34968276
NM_000077.4(CDKN2A):c.251A>C (p.Asp84Ala) rs587782792
NM_000077.4(CDKN2A):c.259C>T (p.Arg87Trp) rs749714198
NM_000077.4(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.4(CDKN2A):c.296G>C (p.Arg99Pro) rs754806883
NM_000077.4(CDKN2A):c.322G>T (p.Asp108Tyr) rs121913381
NM_000077.4(CDKN2A):c.334C>G (p.Arg112Gly) rs876660436
NM_000077.4(CDKN2A):c.341C>T (p.Pro114Leu) rs121913386
NM_000077.4(CDKN2A):c.67G>A (p.Gly23Ser) rs1131691186
NM_000077.4(CDKN2A):c.67G>T (p.Gly23Cys) rs1131691186
NM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097
NM_000077.4(CDKN2A):c.95T>C (p.Leu32Pro) rs878853650
NM_000136.2(FANCC):c.996+1G>T rs370510954
NM_000143.3(FH):c.1000A>C (p.Ser334Arg) rs587782216
NM_000143.3(FH):c.1007T>G (p.Met336Arg) rs863223972
NM_000143.3(FH):c.1020T>A (p.Asn340Lys) rs398123159
NM_000143.3(FH):c.1023T>G (p.Asp341Glu) rs863223973
NM_000143.3(FH):c.1093A>G (p.Ser365Gly) rs863223966
NM_000143.3(FH):c.1094G>A (p.Ser365Asn) rs1131691238
NM_000143.3(FH):c.1120C>A (p.Pro374Thr) rs876660446
NM_000143.3(FH):c.1144A>G (p.Met382Val) rs886039365
NM_000143.3(FH):c.1157A>G (p.Gln386Arg) rs750447792
NM_000143.3(FH):c.1255T>C (p.Ser419Pro) rs200004220
NM_000143.3(FH):c.1256C>T (p.Ser419Leu) rs1131691244
NM_000143.3(FH):c.1301G>A (p.Cys434Tyr) rs398123164
NM_000143.3(FH):c.132G>A (p.Met44Ile) rs863223982
NM_000143.3(FH):c.1339A>T (p.Lys447Ter) rs863223977
NM_000143.3(FH):c.1391-2A>T rs863224008
NM_000143.3(FH):c.1431_1433dupAAA (p.Lys477_Asn478insLys) rs367543046
NM_000143.3(FH):c.1439C>G (p.Ser480Ter) rs1131691245
NM_000143.3(FH):c.1500G>A (p.Trp500Ter) rs886039368
NM_000143.3(FH):c.378+2T>C rs1131691241
NM_000143.3(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.3(FH):c.539A>G (p.His180Arg) rs863224015
NM_000143.3(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.3(FH):c.557G>A (p.Ser186Asn) rs587782618
NM_000143.3(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.3(FH):c.578_583delCAGCAA (p.Thr193_Ala194del) rs1060499635
NM_000143.3(FH):c.597_599delTGC (p.Ala200del) rs786202907
NM_000143.3(FH):c.786_806del21 (p.Lys263_Ile269del) rs786202220
NM_000143.3(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.3(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.3(FH):c.905-1G>C rs797044973
NM_000143.3(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.3(FH):c.947C>A (p.Ala316Asp) rs863224002
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.2(MSH6):c.1304T>C (p.Leu435Pro) rs63751405
NM_000179.2(MSH6):c.1346T>C (p.Leu449Pro) rs63750741
NM_000179.2(MSH6):c.1513dup (p.Tyr505Leufs) rs1553412912
NM_000179.2(MSH6):c.1621A>C (p.Ser541Arg) rs587779778
NM_000179.2(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.2(MSH6):c.2302_2304delCCT (p.Pro768del) rs63750647
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.260+1G>C rs1553408467
NM_000179.2(MSH6):c.260+2_260+3delTAinsAG rs1064794075
NM_000179.2(MSH6):c.260G>C (p.Ser87Thr) rs1114167734
NM_000179.2(MSH6):c.261-1G>C rs863225402
NM_000179.2(MSH6):c.2665C>T (p.Gln889Ter)
NM_000179.2(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.2(MSH6):c.2926C>T (p.Arg976Cys) rs587782386
NM_000179.2(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.2(MSH6):c.3172+1G>T rs587779255
NM_000179.2(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.2(MSH6):c.3173-1G>A rs397515875
NM_000179.2(MSH6):c.3173-1_3173delGA rs587779256
NM_000179.2(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.2(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3356_3358delAAGinsGAT (p.Glu1119_Glu1120delinsGlyTer) rs1114167695
NM_000179.2(MSH6):c.3400G>C (p.Gly1134Arg) rs1114167697
NM_000179.2(MSH6):c.3416G>T (p.Gly1139Val) rs1316409501
NM_000179.2(MSH6):c.3417C>T (p.Gly1139=) rs876660283
NM_000179.2(MSH6):c.3439-1G>T rs587779263
NM_000179.2(MSH6):c.3439-2A>G rs267608098
NM_000179.2(MSH6):c.3439-2A>T rs267608098
NM_000179.2(MSH6):c.3452C>A (p.Ala1151Asp) rs587782625
NM_000179.2(MSH6):c.3485_3487delCTG (p.Ala1162del) rs63751427
NM_000179.2(MSH6):c.3556+1delG rs1064793489
NM_000179.2(MSH6):c.3557-1G>C rs1114167723
NM_000179.2(MSH6):c.3577G>A (p.Glu1193Lys) rs63751328
NM_000179.2(MSH6):c.3601C>G (p.Leu1201Val) rs182024561
NM_000179.2(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.2(MSH6):c.3646+2T>C rs1553332776
NM_000179.2(MSH6):c.3656C>T (p.Thr1219Ile) rs63750949
NM_000179.2(MSH6):c.3701_3706dup (p.Leu1235_Ala1236insGluLeu) rs63750523
NM_000179.2(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285
NM_000179.2(MSH6):c.3724_3726delCGT (p.Arg1242del) rs63749942
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.2(MSH6):c.3798_3801+9delTATGGTATGTGCA rs1553333168
NM_000179.2(MSH6):c.3801+1G>T rs876660943
NM_000179.2(MSH6):c.3802-7_3802-4delTCTT rs876661171
NM_000179.2(MSH6):c.3935_3954dup (p.Lys1319Leufs) rs1553333644
NM_000179.2(MSH6):c.3996_3999dup (p.Arg1334Ilefs) rs1553333753
NM_000179.2(MSH6):c.3999dupT (p.Arg1334Serfs) rs863225418
NM_000179.2(MSH6):c.4001+1G>C rs1114167729
NM_000179.2(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.2(MSH6):c.4001G>C (p.Arg1334Pro) rs267608122
NM_000179.2(MSH6):c.4002-1G>A rs1302369946
NM_000179.2(MSH6):c.4002-2A>G rs878853745
NM_000179.2(MSH6):c.4004_4007dupAAGT (p.Cys1337Serfs) rs876658497
NM_000179.2(MSH6):c.628-2A>G rs1114167725
NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) rs386134249
NM_000248.3(MITF):c.952G>A (p.Glu318Lys) rs149617956
NM_000249.3(MLH1):c.109G>C (p.Glu37Gln) rs63751012
NM_000249.3(MLH1):c.116+5G>A rs267607710
NM_000249.3(MLH1):c.117T>G (p.Cys39Trp) rs1305605404
NM_000249.3(MLH1):c.122A>T (p.Asp41Val) rs63751094
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1588_1590delTTC (p.Phe530del) rs587778930
NM_000249.3(MLH1):c.1649T>C (p.Leu550Pro) rs63750193
NM_000249.3(MLH1):c.1667+1delG rs1553658246
NM_000249.3(MLH1):c.1667G>C (p.Ser556Thr) rs63751596
NM_000249.3(MLH1):c.1668-2A>C
NM_000249.3(MLH1):c.1835_1837delTTG (p.Val612del) rs63750486
NM_000249.3(MLH1):c.1855G>C (p.Ala619Pro) rs267607866
NM_000249.3(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.3(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.3(MLH1):c.1943C>G (p.Pro648Arg) rs63750610
NM_000249.3(MLH1):c.194G>A (p.Gly65Asp) rs63751465
NM_000249.3(MLH1):c.1989+2T>C rs1553664119
NM_000249.3(MLH1):c.1990-1G>C
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.1A>C (p.Met1Leu) rs587778967
NM_000249.3(MLH1):c.2041G>C (p.Ala681Pro) rs63750217
NM_000249.3(MLH1):c.2048_2050delTCT (p.Phe683del) rs1553664506
NM_000249.3(MLH1):c.208-3C>G rs267607720
NM_000249.3(MLH1):c.2103+3A>G rs587778976
NM_000249.3(MLH1):c.2162delA (p.Tyr721Leufs) rs786202767
NM_000249.3(MLH1):c.218T>G (p.Leu73Arg) rs397514684
NM_000249.3(MLH1):c.2236dup (p.Leu746Profs) rs1553665977
NM_000249.3(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.3(MLH1):c.2248_2249delTA (p.Tyr750Glnfs) rs786202326
NM_000249.3(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.3(MLH1):c.245_247delCTA (p.Thr82del) rs786202328
NM_000249.3(MLH1):c.302G>A (p.Gly101Asp) rs267607727
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.305A>C (p.Glu102Ala) rs1553640334
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.3(MLH1):c.380G>A (p.Arg127Lys) rs63751595
NM_000249.3(MLH1):c.380G>T (p.Arg127Ile) rs63751595
NM_000249.3(MLH1):c.454-13A>G rs267607749
NM_000249.3(MLH1):c.454-2A>G rs267607753
NM_000249.3(MLH1):c.492A>C (p.Lys164Asn) rs765014361
NM_000249.3(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.3(MLH1):c.677+3A>T rs267607780
NM_000249.3(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.3(MLH1):c.678-2A>G rs587779035
NM_000249.3(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.3(MLH1):c.790+1G>T rs267607789
NM_000249.3(MLH1):c.790+4A>C rs267607786
NM_000249.3(MLH1):c.791-2A>G rs267607794
NM_000249.3(MLH1):c.791-2A>T rs267607794
NM_000249.3(MLH1):c.791-5T>G rs267607788
NM_000249.3(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.3(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.3(MLH1):c.884+1G>A rs1553646764
NM_000249.3(MLH1):c.885-2A>G rs267607805
NM_000251.2(MSH2):c.1012G>C (p.Gly338Arg) rs63751004
NM_000251.2(MSH2):c.1046C>T (p.Pro349Leu) rs587779067
NM_000251.2(MSH2):c.1076G>C (p.Arg359Thr) rs63751604
NM_000251.2(MSH2):c.1077-1G>C rs267607944
NM_000251.2(MSH2):c.1276+1G>A rs267607950
NM_000251.2(MSH2):c.1316_1318delCTC (p.Pro439del) rs587779082
NM_000251.2(MSH2):c.1319T>C (p.Leu440Pro) rs587779084
NM_000251.2(MSH2):c.1355A>T (p.Glu452Val) rs1553361274
NM_000251.2(MSH2):c.1510+1G>A rs1114167852
NM_000251.2(MSH2):c.1510+2_1510+50del
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1661+5G>C rs267607972
NM_000251.2(MSH2):c.1759+1G>A rs587779108
NM_000251.2(MSH2):c.1759G>A (p.Gly587Ser) rs63751140
NM_000251.2(MSH2):c.1759G>T (p.Gly587Cys) rs63751140
NM_000251.2(MSH2):c.1760-1G>A rs587779110
NM_000251.2(MSH2):c.1807G>A (p.Asp603Asn) rs63750657
NM_000251.2(MSH2):c.1815_1817delTGT (p.Val606del) rs267607978
NM_000251.2(MSH2):c.1861C>G (p.Arg621Gly) rs63750508
NM_000251.2(MSH2):c.1862G>T (p.Arg621Leu) rs759263820
NM_000251.2(MSH2):c.1865C>G (p.Pro622Arg) rs28929483
NM_000251.2(MSH2):c.1871T>G (p.Ile624Ser) rs1114167870
NM_000251.2(MSH2):c.1979A>G (p.Asp660Gly) rs1085308057
NM_000251.2(MSH2):c.2005+3_2005+14del12 rs587779125
NM_000251.2(MSH2):c.2005G>T (p.Gly669Cys) rs63751668
NM_000251.2(MSH2):c.2006-2A>G rs267607991
NM_000251.2(MSH2):c.2006-3T>G rs1553368975
NM_000251.2(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000251.2(MSH2):c.2074G>A (p.Gly692Arg) rs63750232
NM_000251.2(MSH2):c.2074G>C (p.Gly692Arg) rs63750232
NM_000251.2(MSH2):c.2074G>T (p.Gly692Trp) rs63750232
NM_000251.2(MSH2):c.2081T>C (p.Phe694Ser) rs1114167857
NM_000251.2(MSH2):c.2087C>T (p.Pro696Leu) rs267607994
NM_000251.2(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000251.2(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.2(MSH2):c.2210_2210+1delGGinsTA rs1114167890
NM_000251.2(MSH2):c.2211-10T>A rs267608006
NM_000251.2(MSH2):c.2245G>A (p.Glu749Lys) rs63751477
NM_000251.2(MSH2):c.2251G>A (p.Gly751Arg) rs63751119
NM_000251.2(MSH2):c.2320A>G (p.Ile774Val) rs775464903
NM_000251.2(MSH2):c.2458+1G>A rs267608010
NM_000251.2(MSH2):c.2458+1G>T rs267608010
NM_000251.2(MSH2):c.2459-6_2459-2delTTATA rs1114167841
NM_000251.2(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.2(MSH2):c.2635-1G>A rs267608020
NM_000251.2(MSH2):c.2635-2A>C rs1114167818
NM_000251.2(MSH2):c.2635-2A>T rs1114167818
NM_000251.2(MSH2):c.301_306delGAAGTT (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.367-1G>A rs267607925
NM_000251.2(MSH2):c.488T>A (p.Val163Asp) rs63750214
NM_000251.2(MSH2):c.491G>A (p.Gly164Glu) rs786204082
NM_000251.2(MSH2):c.560T>C (p.Leu187Pro) rs63751444
NM_000251.2(MSH2):c.646-3T>G rs267607930
NM_000251.2(MSH2):c.792+2T>C rs587782408
NM_000251.2(MSH2):c.793-1G>A rs863225397
NM_000251.2(MSH2):c.929T>C (p.Leu310Pro) rs63750640
NM_000251.2(MSH2):c.942+1G>T rs587779193
NM_000251.2(MSH2):c.997T>C (p.Cys333Arg) rs63750468
NM_000264.4(PTCH1):c.1068-1G>T rs1085307752
NM_000264.4(PTCH1):c.1462T>C (p.Cys488Arg) rs1131690999
NM_000264.4(PTCH1):c.201+1G>A rs1131690967
NM_000264.4(PTCH1):c.297C>T (p.Gly99=) rs772407797
NM_000264.4(PTCH1):c.3404T>C (p.Leu1135Pro) rs1131690989
NM_000264.4(PTCH1):c.3440T>C (p.Phe1147Ser) rs1131690990
NM_000264.4(PTCH1):c.3499G>A (p.Gly1167Arg) rs1131690985
NM_000267.3(NF1):c.1062G>A (p.Lys354=) rs1131691118
NM_000267.3(NF1):c.1393-1G>T rs1131691131
NM_000267.3(NF1):c.1528-1G>T rs876660595
NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_000267.3(NF1):c.1733T>C (p.Leu578Pro) rs199474774
NM_000267.3(NF1):c.2002-2A>C rs1555613741
NM_000267.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_000267.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_000267.3(NF1):c.3044T>C (p.Leu1015Pro) rs1131691112
NM_000267.3(NF1):c.3315-2A>G rs1555614914
NM_000267.3(NF1):c.3502G>C (p.Gly1168Arg) rs878853883
NM_000267.3(NF1):c.4111-2A>G rs1555618489
NM_000267.3(NF1):c.4269G>C (p.Lys1423Asn) rs199474750
NM_000267.3(NF1):c.4276C>A (p.Gln1426Lys) rs1135402857
NM_000267.3(NF1):c.4307A>G (p.Lys1436Arg) rs1555618656
NM_000267.3(NF1):c.479G>A (p.Arg160Lys) rs199474752
NM_000267.3(NF1):c.4867G>T (p.Asp1623Tyr) rs1131691123
NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) rs771529172
NM_000267.3(NF1):c.5681T>C (p.Leu1894Pro) rs1555533875
NM_000267.3(NF1):c.6642-3C>A rs1131691079
NM_000314.4(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.4(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.4(PTEN):c.402G>T (p.Met134Ile) rs1114167676
NM_000314.4(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.4(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.6(PTEN):c.1026+1G>A rs786201041
NM_000314.6(PTEN):c.1026+1G>C rs786201041
NM_000314.6(PTEN):c.1034T>C (p.Leu345Pro) rs1554826024
NM_000314.6(PTEN):c.104T>C (p.Met35Thr) rs121909225
NM_000314.6(PTEN):c.1127_1128insAT (p.His376Glnfs) rs1554826052
NM_000314.6(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.6(PTEN):c.144C>G (p.Asn48Lys) rs762518389
NM_000314.6(PTEN):c.160_162delGTA (p.Val54del) rs1554893831
NM_000314.6(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.6(PTEN):c.203A>C (p.Tyr68Ser) rs876660634
NM_000314.6(PTEN):c.209+1G>T rs1554897280
NM_000314.6(PTEN):c.210-1G>C rs1114167621
NM_000314.6(PTEN):c.210-1G>T rs1114167621
NM_000314.6(PTEN):c.275A>C (p.Asp92Ala) rs1114167623
NM_000314.6(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.6(PTEN):c.355G>C (p.Val119Leu) rs139767111
NM_000314.6(PTEN):c.355G>T (p.Val119Phe) rs139767111
NM_000314.6(PTEN):c.359C>A (p.Ala120Glu) rs1114167647
NM_000314.6(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.6(PTEN):c.370T>G (p.Cys124Gly) rs121909223
NM_000314.6(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.6(PTEN):c.377C>T (p.Ala126Val) rs1114167656
NM_000314.6(PTEN):c.380G>A (p.Gly127Glu) rs398123322
NM_000314.6(PTEN):c.384G>C (p.Lys128Asn) rs1114167645
NM_000314.6(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.6(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.6(PTEN):c.39_41delAAG (p.Arg15del) rs1114167625
NM_000314.6(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.6(PTEN):c.45A>C (p.Arg15Ser) rs1064794096
NM_000314.6(PTEN):c.46T>C (p.Tyr16His) rs1064796078
NM_000314.6(PTEN):c.476G>T (p.Arg159Met) rs1114167673
NM_000314.6(PTEN):c.493-2A>T rs587781784
NM_000314.6(PTEN):c.497T>A (p.Val166Glu) rs1554900515
NM_000314.6(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.6(PTEN):c.518G>C (p.Arg173Pro) rs121913294
NM_000314.6(PTEN):c.598T>G (p.Phe200Val) rs587782473
NM_000314.6(PTEN):c.635-3C>G rs1085308056
NM_000314.6(PTEN):c.70G>A (p.Asp24Asn) rs786201995
NM_000314.6(PTEN):c.738_743delGTTACC (p.Leu247_Pro248del) rs1114167666
NM_000314.6(PTEN):c.752_753delGTinsTG (p.Gly251Val) rs1114167664
NM_000314.6(PTEN):c.761A>C (p.Lys254Thr) rs1114167633
NM_000314.6(PTEN):c.802-2A>G rs587782455
NM_000314.6(PTEN):c.815A>C (p.His272Pro) rs1114167648
NM_000314.6(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.6(PTEN):c.865A>G (p.Lys289Glu) rs562015640
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.7(PTEN):c.518G>T (p.Arg173Leu) rs121913294
NM_000314.7(PTEN):c.520T>A (p.Tyr174Asn) rs587782316
NM_000321.2(RB1):c.1049+1G>A rs587776782
NM_000321.2(RB1):c.1389+4A>C rs1131690879
NM_000321.2(RB1):c.1400_1403dup (p.Ser469Ilefs) rs1555286570
NM_000321.2(RB1):c.1411C>T (p.Gln471Ter) rs1354030520
NM_000321.2(RB1):c.1419delT (p.Phe473Leufs) rs1555286573
NM_000321.2(RB1):c.1421+12_1421+32delACTTTTAGTAAAAAATTTTTT rs587781256
NM_000321.2(RB1):c.1421+1G>C rs1131690886
NM_000321.2(RB1):c.1421G>T (p.Ser474Ile) rs1555286575
NM_000321.2(RB1):c.1466G>A (p.Cys489Tyr) rs1131690877
NM_000321.2(RB1):c.1498+1G>A rs1131690909
NM_000321.2(RB1):c.2094G>C (p.Arg698Ser) rs1131690891
NM_000321.2(RB1):c.2107-1G>A rs587778860
NM_000321.2(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.2(RB1):c.2325+1G>C rs1131690882
NM_000321.2(RB1):c.2520+5G>A rs1131690881
NM_000321.2(RB1):c.380G>A (p.Ser127Asn) rs1131690843
NM_000321.2(RB1):c.380G>C (p.Ser127Thr) rs1131690843
NM_000321.2(RB1):c.500+1G>T rs1131690880
NM_000321.2(RB1):c.607+2dup rs1131690895
NM_000321.2(RB1):c.857A>G (p.Asp286Gly) rs1131690864
NM_000368.4(TSC1):c.2208+2T>A rs1064794132
NM_000455.4(STK11):c.151_162del12 (p.Met51_Leu54del) rs1131690916
NM_000455.4(STK11):c.155_157delGGG (p.Gly52del) rs1131690917
NM_000455.4(STK11):c.159_170delCCTGCTGGGGGA (p.Asp53_Gly56del) rs1131690953
NM_000455.4(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.4(STK11):c.465-2A>C rs1131690931
NM_000455.4(STK11):c.487G>C (p.Gly163Arg) rs730881972
NM_000455.4(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.4(STK11):c.582C>A (p.Asp194Glu) rs786202134
NM_000455.4(STK11):c.597+1G>T rs886039554
NM_000455.4(STK11):c.709G>C (p.Asp237His) rs878853247
NM_000455.4(STK11):c.719C>G (p.Ser240Trp) rs730881976
NM_000455.4(STK11):c.734+2T>C rs1131690941
NM_000455.4(STK11):c.863-2A>G rs1131690944
NM_000455.4(STK11):c.890_907del18 (p.Arg297_Gln302del) rs1131690935
NM_000455.4:c.982_983del
NM_000465.3(BARD1):c.1314+1G>A rs753785671
NM_000465.3(BARD1):c.1395+1dupG rs1553619688
NM_000465.3(BARD1):c.1568+2T>C rs1553619196
NM_000465.3(BARD1):c.159-1G>T rs879254139
NM_000465.3(BARD1):c.1678-1_1678delGA rs1553615184
NM_000465.3(BARD1):c.1810+1G>A rs876659894
NM_000465.3(BARD1):c.1810+2T>G rs1234033325
NM_000465.3(BARD1):c.1903+1G>T rs876660237
NM_000465.3(BARD1):c.1904-2delA rs876659560
NM_000465.3(BARD1):c.1932_1933delAT (p.Cys645Terfs) rs587782504
NM_000465.3(BARD1):c.2001+1G>C rs768490891
NM_000465.3(BARD1):c.2002-1G>C rs762601855
NM_000465.3(BARD1):c.2002-2A>T rs876658260
NM_000465.3(BARD1):c.2300_2301delTG (p.Val767Aspfs) rs750413473
NM_000465.4(BARD1):c.2014_2015dup (p.Asp673Leufs)
NM_000465.4(BARD1):c.216-1G>A rs876658905
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg)
NM_000535.5(PMS2):c.164-1G>C rs763308607
NM_000535.5(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.5(PMS2):c.2249G>A (p.Gly750Asp) rs587779337
NM_000535.5(PMS2):c.2275+1G>A rs1554294393
NM_000535.5(PMS2):c.23+1G>T rs587782074
NM_000535.5(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.5(PMS2):c.825A>G (p.Gln275=) rs876659736
NM_000535.6(PMS2):c.123_131delGTTAGTAGA (p.Leu42_Glu44del) rs863224676
NM_000535.6(PMS2):c.1414A>T (p.Lys472Ter)
NM_000535.6(PMS2):c.164-1G>A rs763308607
NM_000535.6(PMS2):c.2007-2A>C rs587782336
NM_000535.6(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.6(PMS2):c.220G>C (p.Gly74Arg) rs1554304979
NM_000535.6(PMS2):c.2445+1G>A rs876661113
NM_000535.6(PMS2):c.2446-1G>T rs774583397
NM_000535.6(PMS2):c.2534A>T (p.His845Leu) rs1554292741
NM_000535.6(PMS2):c.319C>T (p.Arg107Trp) rs188006077
NM_000535.6(PMS2):c.538-1G>C rs988423880
NM_000535.6(PMS2):c.706-2A>C rs745487791
NM_000535.6(PMS2):c.903+1G>T rs1554300689
NM_000535.6(PMS2):c.903G>A (p.Lys301=) rs267608153
NM_000535.6(PMS2):c.904-2A>C rs587781339
NM_000535.6(PMS2):c.988+1delG rs876660075
NM_000535.7(PMS2):c.163+1G>A rs1064795705
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_000535.7(PMS2):c.538-2A>G rs758304323
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000546.5(TP53):c.1000G>T (p.Gly334Trp) rs730882028
NM_000546.5(TP53):c.1010G>T (p.Arg337Leu) rs121912664
NM_000546.5(TP53):c.1025G>C (p.Arg342Pro) rs375338359
NM_000546.5(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.5(TP53):c.1101-1G>A rs876658982
NM_000546.5(TP53):c.313G>A (p.Gly105Ser) rs1060501195
NM_000546.5(TP53):c.313G>C (p.Gly105Arg) rs1060501195
NM_000546.5(TP53):c.314G>A (p.Gly105Asp) rs587781504
NM_000546.5(TP53):c.328_339del (p.Arg110_Phe113del) rs587782490
NM_000546.5(TP53):c.329G>C (p.Arg110Pro) rs11540654
NM_000546.5(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.5(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.375+2T>G rs1555526469
NM_000546.5(TP53):c.375G>C (p.Thr125=) rs55863639
NM_000546.5(TP53):c.376-1G>A rs868137297
NM_000546.5(TP53):c.376-2A>G rs786202799
NM_000546.5(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.5(TP53):c.392A>T (p.Asn131Ile) rs1131691037
NM_000546.5(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.5(TP53):c.401T>G (p.Phe134Cys) rs780442292
NM_000546.5(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.5(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.5(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.5(TP53):c.434T>A (p.Leu145Gln) rs587782197
NM_000546.5(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.5(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.5(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_000546.5(TP53):c.467G>A (p.Arg156His) rs371524413
NM_000546.5(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.5(TP53):c.470T>A (p.Val157Asp) rs1131691023
NM_000546.5(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.5(TP53):c.472C>T (p.Arg158Cys) rs587780068
NM_000546.5(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000546.5(TP53):c.487T>G (p.Tyr163Asp) rs786203436
NM_000546.5(TP53):c.503A>G (p.His168Arg) rs867114783
NM_000546.5(TP53):c.514G>T (p.Val172Phe) rs1131691043
NM_000546.5(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.5(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.5(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.5(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.5(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_000546.5(TP53):c.524G>T (p.Arg175Leu) rs28934578
NM_000546.5(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.5(TP53):c.530C>G (p.Pro177Arg) rs751477326
NM_000546.5(TP53):c.532C>G (p.His178Asp) rs1064795203
NM_000546.5(TP53):c.533A>C (p.His178Pro) rs1555526004
NM_000546.5(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.5(TP53):c.537T>A (p.His179Gln) rs876660821
NM_000546.5(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.5(TP53):c.541C>T (p.Arg181Cys) rs587782596
NM_000546.5(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.5(TP53):c.559+1G>A rs1131691042
NM_000546.5(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.5(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.5(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.5(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.5(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.5(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.5(TP53):c.657_665del (p.Tyr220_Pro222del) rs876658144
NM_000546.5(TP53):c.658T>A (p.Tyr220Asn) rs530941076
NM_000546.5(TP53):c.672+1G>T
NM_000546.5(TP53):c.672G>A (p.Glu224=) rs267605076
NM_000546.5(TP53):c.695T>C (p.Ile232Thr) rs587781589
NM_000546.5(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_000546.5(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.5(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_000546.5(TP53):c.716_736del (p.Asn239_Gly245del) rs876659260
NM_000546.5(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.5(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.5(TP53):c.728T>C (p.Met243Thr) rs730882006
NM_000546.5(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.5(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.5(TP53):c.736A>C (p.Met246Leu) rs483352695
NM_000546.5(TP53):c.737T>A (p.Met246Lys) rs587780074
NM_000546.5(TP53):c.737T>C (p.Met246Thr) rs587780074
NM_000546.5(TP53):c.738G>A (p.Met246Ile) rs1019340046
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.5(TP53):c.75-2A>G rs1131691020
NM_000546.5(TP53):c.751A>C (p.Ile251Leu) rs730882007
NM_000546.5(TP53):c.766A>G (p.Thr256Ala) rs587781433
NM_000546.5(TP53):c.770T>G (p.Leu257Arg) rs28934577
NM_000546.5(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.5(TP53):c.782+2T>G rs876659076
NM_000546.5(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.5(TP53):c.800G>C (p.Arg267Pro) rs587780075
NM_000546.5(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_000546.5(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_000546.5(TP53):c.825T>G (p.Cys275Trp) rs1555525279
NM_000546.5(TP53):c.827C>A (p.Ala276Asp) rs786202082
NM_000546.5(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.5(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.5(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.5(TP53):c.838_848delAGAGACCGGCGinsCA (p.Arg280_Arg283delinsHis) rs587781564
NM_000546.5(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.5(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.5(TP53):c.848G>A (p.Arg283His) rs371409680
NM_000546.5(TP53):c.853G>A (p.Glu285Lys) rs112431538
NM_000546.5(TP53):c.919+1G>C rs1131691039
NM_000546.5(TP53):c.920-2A>G rs397516439
NM_000546.5(TP53):c.96+1G>T rs1131691003
NM_000546.5(TP53):c.96+2dup rs1131691015
NM_000546.5(TP53):c.993G>A (p.Gln331=) rs11575996
NM_000546.5(TP53):c.994-2A>G rs867389695
NM_000548.4(TSC2):c.1600-2A>G rs1114167466
NM_000548.4(TSC2):c.2087G>A (p.Cys696Tyr) rs45486196
NM_000548.4(TSC2):c.3182T>C (p.Leu1061Pro) rs397514919
NM_000548.4(TSC2):c.5069-3_5069-2delCA rs1114167460
NM_000551.3(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.3(VHL):c.214T>C (p.Ser72Pro) rs869025618
NM_000551.3(VHL):c.232A>T (p.Asn78Tyr) rs869025621
NM_000551.3(VHL):c.238A>G (p.Ser80Gly) rs786202787
NM_000551.3(VHL):c.242C>T (p.Pro81Leu) rs193922608
NM_000551.3(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.3(VHL):c.263_265dup (p.Trp88_Leu89insArg) rs1131690960
NM_000551.3(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.3(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.3(VHL):c.341-3T>G rs1131690965
NM_000551.3(VHL):c.397A>C (p.Thr133Pro) rs1131690961
NM_000551.3(VHL):c.452T>C (p.Ile151Thr) rs869025655
NM_000551.3(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.3(VHL):c.483_500dup (p.Arg167_Ser168insCysLeuGlnValValArg) rs1553620312
NM_000551.3(VHL):c.487C>T (p.Leu163Phe) rs1553620318
NM_000551.3(VHL):c.506T>C (p.Leu169Pro) rs1131690962
NM_000551.3(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.3(VHL):c.533T>C (p.Leu178Pro) rs5030822
NM_000551.3(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000551.3(VHL):c.581T>G (p.Val194Gly) rs1131690963
NM_001042492.2(NF1):c.1063-13G>A rs1131691066
NM_001042492.2(NF1):c.1070T>G (p.Leu357Arg) rs137854563
NM_001042492.2(NF1):c.1186-1G>T rs876660782
NM_001042492.2(NF1):c.1528-1G>A rs876660595
NM_001042492.2(NF1):c.2252-1G>C rs587781577
NM_001042492.2(NF1):c.2252-2A>G rs1131691105
NM_001042492.2(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001042492.2(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_001042492.2(NF1):c.2509T>A (p.Trp837Arg) rs587781747
NM_001042492.2(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_001042492.2(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.2(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.2(NF1):c.3587T>G (p.Leu1196Arg) rs199474741
NM_001042492.2(NF1):c.3871-2A>G rs1131691077
NM_001042492.2(NF1):c.4340A>C (p.Gln1447Pro) rs786204157
NM_001042492.2(NF1):c.4725-1G>A rs1555619391
NM_001042492.2(NF1):c.5854T>C (p.Trp1952Arg) rs199474791
NM_001042492.2(NF1):c.60+2delT rs1131691101
NM_001042492.2(NF1):c.6705-3C>G rs1131691079
NM_001042492.2(NF1):c.6919_6921delAAG (p.Lys2307del) rs587782819
NM_001042492.2(NF1):c.889-1G>T rs587781517
NM_001128425.1(MUTYH):c.1186+1G>A rs587781337
NM_001128425.1(MUTYH):c.1186+1G>T rs587781337
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128425.1(MUTYH):c.1324-1G>T rs876660837
NM_001128425.1(MUTYH):c.1341_1342delTC (p.Ile449Glnfs) rs876659414
NM_001128425.1(MUTYH):c.1476_1476+6delGGCACTA rs864621967
NM_001128425.1(MUTYH):c.1477G>T (p.Val493Phe) rs587782228
NM_001128425.1(MUTYH):c.1501C>T (p.Gln501Ter)
NM_001128425.1(MUTYH):c.1518+1G>T rs876659420
NM_001128425.1(MUTYH):c.325C>T (p.Arg109Trp) rs765123255
NM_001128425.1(MUTYH):c.348+1G>T rs1553130042
NM_001128425.1(MUTYH):c.36+1G>A rs1553136984
NM_001128425.1(MUTYH):c.389-1G>A rs372267274
NM_001128425.1(MUTYH):c.389-1G>C rs372267274
NM_001128425.1(MUTYH):c.401A>T (p.Glu134Val) rs864622450
NM_001128425.1(MUTYH):c.453_458dupATGGAT (p.Trp152_Met153insIleTrp) rs876660190
NM_001128425.1(MUTYH):c.462+2T>G rs1553129521
NM_001128425.1(MUTYH):c.504+19_504+31delTAGGGGAAATAGG rs781222233
NM_001128425.1(MUTYH):c.504+2T>C rs587782730
NM_001128425.1(MUTYH):c.505-2A>C rs786203161
NM_001128425.1(MUTYH):c.548G>A (p.Gly183Asp) rs587781864
NM_001128425.1(MUTYH):c.576+1delG rs1553128712
NM_001128425.1(MUTYH):c.577-2A>G rs1553128663
NM_001128425.1(MUTYH):c.690G>A (p.Gln230=) rs199989617
NM_001128425.1(MUTYH):c.721C>T (p.Arg241Trp) rs34126013
NM_001128425.1(MUTYH):c.722G>A (p.Arg241Gln) rs1060501346
NM_001128425.1(MUTYH):c.734G>A (p.Arg245His) rs140342925
NM_001128425.1(MUTYH):c.736G>T (p.Val246Phe) rs587780749
NM_001128425.1(MUTYH):c.820C>T (p.Arg274Trp) rs769237459
NM_001128425.1(MUTYH):c.847A>G (p.Met283Val) rs876659676
NM_001128425.1(MUTYH):c.857G>A (p.Gly286Glu) rs730881833
NM_001128425.1(MUTYH):c.884C>T (p.Pro295Leu) rs374950566
NM_001128425.1(MUTYH):c.933_933+1delAG rs1553127514
NM_001128425.1(MUTYH):c.934-2A>G rs77542170
NM_001195132.1(CDKN2A):c.9_32dup (p.Pro11_Ser12insAlaAlaGlySerSerMetGluPro) rs587780668
NM_001903.4(CTNNA1):c.195_198delTGAA (p.Glu66Lysfs) rs869312766
NM_002382.4(MAX):c.171+2T>A rs786203009
NM_002382.4(MAX):c.212T>A (p.Ile71Asn) rs876659610
NM_002485.4(NBN):c.1124+1G>C rs1057517209
NM_002485.4(NBN):c.1125-2A>G rs1554559373
NM_002485.4(NBN):c.1397+1_1397+9delGTCTGTTTTinsACA rs876659666
NM_002485.4(NBN):c.163_171+3del12 rs1057516772
NM_002485.4(NBN):c.1846-1G>A rs61753717
NM_002485.4(NBN):c.2070+2T>G rs786203223
NM_002485.4(NBN):c.2071-1G>A rs786201965
NM_002485.4(NBN):c.2071-1G>C rs786201965
NM_002485.4(NBN):c.2184+1G>A rs756363734
NM_002485.4(NBN):c.2184+1G>T rs756363734
NM_002485.4(NBN):c.2234+2T>G rs142301194
NM_002485.4(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002485.4(NBN):c.320+1G>A rs1364533250
NM_002485.4(NBN):c.320+2T>G
NM_002485.4(NBN):c.37+1G>A rs574673404
NM_002485.4(NBN):c.37+2dupT rs876658183
NM_002485.4(NBN):c.481-2A>T rs751567476
NM_002485.4(NBN):c.7A>T (p.Lys3Ter) rs779098734
NM_002485.4(NBN):c.896+1G>A
NM_002485.4(NBN):c.896+1G>T
NM_002485.4(NBN):c.897-2A>T rs864622090
NM_002485.4(NBN):c.994+1G>T rs1554562083
NM_002485.4(NBN):c.995-2A>G rs876659521
NM_002878.3(RAD51D):c.1A>T (p.Met1Leu) rs561425038
NM_002878.3(RAD51D):c.263+1G>A rs1555570242
NM_002878.3(RAD51D):c.264-2A>C rs1555568514
NM_002878.3(RAD51D):c.335G>C (p.Gly112Ala) rs587782848
NM_002878.3(RAD51D):c.345+2T>C rs876659394
NM_002878.3(RAD51D):c.346-1G>C rs1555568386
NM_002878.3(RAD51D):c.473_480+1delAGGAACAGG rs786202819
NM_002878.3(RAD51D):c.577-2A>G rs1555567649
NM_002878.3(RAD51D):c.620C>G (p.Ser207Trp) rs370228071
NM_002878.3(RAD51D):c.620C>T (p.Ser207Leu) rs370228071
NM_002878.3(RAD51D):c.623dup (p.Thr209Hisfs) rs1555567610
NM_002878.3(RAD51D):c.641dup (p.Leu215Thrfs) rs1409088398
NM_002878.3(RAD51D):c.738G>A (p.Val246=) rs1210620444
NM_002878.3(RAD51D):c.739-1G>A rs1555567202
NM_002878.3(RAD51D):c.772_778delGGGAGGC (p.Gly258Serfs) rs1064795045
NM_002878.3(RAD51D):c.803G>A (p.Trp268Ter) rs750219200
NM_002878.3(RAD51D):c.82+1G>A rs786202788
NM_002878.3(RAD51D):c.82+1G>T rs786202788
NM_002878.3(RAD51D):c.898C>T (p.Arg300Ter) rs750621215
NM_002878.3(RAD51D):c.898delC (p.Arg300Aspfs) rs786202251
NM_002878.3(RAD51D):c.904-2A>T rs1403784434
NM_002907.3(RECQL):c.493_497del (p.Ser165Terfs)
NM_002907.3(RECQL):c.676_677delCAinsGATGTAGCATGTA (p.Gln226Aspfs)
NM_003000.2(SDHB):c.137G>T (p.Arg46Leu) rs772551056
NM_003000.2(SDHB):c.194T>A (p.Leu65His) rs876659329
NM_003000.2(SDHB):c.200+3G>C rs876659330
NM_003000.2(SDHB):c.203G>A (p.Cys68Tyr) rs587782904
NM_003000.2(SDHB):c.238A>G (p.Lys80Glu) rs1131691051
NM_003000.2(SDHB):c.269G>A (p.Arg90Gln) rs570278423
NM_003000.2(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.2(SDHB):c.278G>T (p.Cys93Phe) rs1131691054
NM_003000.2(SDHB):c.286+1G>A rs786201063
NM_003000.2(SDHB):c.286G>A (p.Gly96Ser) rs587782243
NM_003000.2(SDHB):c.287G>A (p.Gly96Asp) rs778952116
NM_003000.2(SDHB):c.296G>A (p.Gly99Asp) rs878854576
NM_003000.2(SDHB):c.415C>T (p.Leu139Phe) rs397516834
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003000.2(SDHB):c.566G>T (p.Cys189Phe) rs876658540
NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.2(SDHB):c.634C>T (p.Leu212Phe) rs1228560456
NM_003000.2(SDHB):c.642+1G>C rs1131691052
NM_003000.2(SDHB):c.642G>T (p.Gln214His) rs1278834014
NM_003000.2(SDHB):c.643-1G>A rs1553177292
NM_003000.2(SDHB):c.649C>T (p.Arg217Cys) rs200245469
NM_003000.2(SDHB):c.653G>C (p.Trp218Ser) rs1553177290
NM_003000.2(SDHB):c.689G>T (p.Arg230Leu) rs587782604
NM_003000.2(SDHB):c.73-1G>A rs1131691055
NM_003000.2(SDHB):c.758G>A (p.Cys253Tyr) rs786201085
NM_003001.3(SDHC):c.148C>T (p.Arg50Cys) rs587778661
NM_003001.3(SDHC):c.179+1G>C rs1057517818
NM_003001.3(SDHC):c.21-2A>G rs1131691062
NM_003001.3(SDHC):c.223G>C (p.Gly75Arg) rs867966048
NM_003001.3(SDHC):c.224G>A (p.Gly75Asp) rs786205147
NM_003001.3(SDHC):c.377A>G (p.Tyr126Cys) rs898854295
NM_003001.3(SDHC):c.380A>G (p.His127Arg) rs786203457
NM_003001.3(SDHC):c.78-1G>A rs786202200
NM_003002.2(SDHD):c.412G>A (p.Gly138Arg) rs786203932
NM_003002.3(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.3(SDHD):c.209G>T (p.Arg70Met) rs755047928
NM_003002.3(SDHD):c.213_215delTGT (p.Val72del) rs1555186992
NM_003002.3(SDHD):c.275A>T (p.Asp92Val) rs786205436
NM_003002.3(SDHD):c.304C>A (p.His102Asn) rs786202403
NM_003002.3(SDHD):c.305A>T (p.His102Leu) rs104894302
NM_003002.3(SDHD):c.314+1G>T rs1555187083
NM_003002.3(SDHD):c.317G>T (p.Gly106Val) rs1555187574
NM_003002.3(SDHD):c.340T>A (p.Tyr114Asn) rs876659276
NM_003002.3(SDHD):c.443_444delGCinsTT (p.Gly148Val) rs1555187635
NM_004168.3(SDHA):c.1064+2T>A rs1553999072
NM_004168.3(SDHA):c.1340A>G (p.His447Arg) rs779151375
NM_004168.3(SDHA):c.150+1G>A rs1057523165
NM_004168.3(SDHA):c.151-1G>C rs1458851277
NM_004168.3(SDHA):c.1660C>T (p.Arg554Trp) rs9809219
NM_004168.3(SDHA):c.1753C>T (p.Arg585Trp) rs200397144
NM_004168.3(SDHA):c.1794+1G>A rs876659595
NM_004168.3(SDHA):c.1909-1G>A rs1159597886
NM_004168.3(SDHA):c.1909-2A>G rs747939816
NM_004168.3(SDHA):c.1A>G (p.Met1Val) rs1061517
NM_004168.3(SDHA):c.818C>T (p.Thr273Ile) rs587781720
NM_004329.2(BMPR1A):c.1013C>A (p.Ala338Asp) rs199476086
NM_004329.2(BMPR1A):c.1021G>T (p.Gly341Cys) rs1554891077
NM_004329.2(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.2(BMPR1A):c.1474-2A>G rs587781407
NM_004329.2(BMPR1A):c.170C>G (p.Pro57Arg) rs1057517610
NM_004329.2(BMPR1A):c.1A>G (p.Met1Val) rs786203157
NM_004329.2(BMPR1A):c.245G>T (p.Cys82Phe) rs1554888310
NM_004329.2(BMPR1A):c.355C>T (p.Arg119Cys) rs587782494
NM_004329.2(BMPR1A):c.370T>C (p.Cys124Arg) rs199476087
NM_004329.2(BMPR1A):c.371G>A (p.Cys124Tyr) rs587782388
NM_004329.2(BMPR1A):c.676-1G>A rs1554890734
NM_004329.2(BMPR1A):c.67G>A (p.Gly23Arg) rs1131691171
NM_004329.2(BMPR1A):c.68-1G>A rs1131691174
NM_004329.2(BMPR1A):c.68-1G>C rs1131691174
NM_004360.3(CDH1):c.1057G>A (p.Glu353Lys) rs876661091
NM_004360.4(CDH1):c.1137+2T>C rs786202817
NM_004360.4(CDH1):c.1553_1565+39del52 rs1555516191
NM_004360.4(CDH1):c.1565+2_1565+3insTT rs1555516200
NM_004360.4(CDH1):c.1566-1G>C rs113583899
NM_004360.4(CDH1):c.1703C>G (p.Thr568Arg) rs786202712
NM_004360.4(CDH1):c.1711+1G>A rs886041161
NM_004360.4(CDH1):c.1711G>A (p.Gly571Ser) rs786202290
NM_004360.4(CDH1):c.2272G>A (p.Glu758Lys) rs786202785
NM_004360.4(CDH1):c.2440-2A>G rs1555518210
NM_004360.4(CDH1):c.2446A>T (p.Lys816Ter) rs1555518211
NM_004360.4(CDH1):c.2474dup (p.Pro826Alafs) rs1555518221
NM_004360.4(CDH1):c.2490dup (p.Leu831Alafs) rs1131690822
NM_004360.4(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg) rs746481984
NM_004360.5(CDH1):c.2165-1G>T
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln) rs1060501244
NM_004360.5(CDH1):c.2296-1G>A rs1057517542
NM_004360.5(CDH1):c.2296-2A>G rs876660393
NM_004360.5(CDH1):c.2506G>T (p.Glu836Ter) rs1555518239
NM_004360.5(CDH1):c.531+1G>T
NM_004656.3(BAP1):c.255+1G>A rs1060503750
NM_004656.3(BAP1):c.38-1G>A rs1553646367
NM_004656.3(BAP1):c.659+3A>C rs878854741
NM_004656.3(BAP1):c.783+2T>C rs774730309
NM_004656.4(BAP1):c.784-2A>T
NM_005359.5(SMAD4):c.1088G>A (p.Cys363Tyr) rs876660556
NM_005359.5(SMAD4):c.1308+1G>T rs587781618
NM_005359.5(SMAD4):c.787+1G>A
NM_005359.5(SMAD4):c.905-1G>A rs1555686070
NM_005359.5(SMAD4):c.989A>G (p.Glu330Gly) rs281875324
NM_005431.1(XRCC2):c.190C>T (p.Arg64Ter) rs151110146
NM_005591.3(MRE11):c.1018-1G>A rs1555012083
NM_005591.3(MRE11):c.1098+2T>C rs876659343
NM_005591.3(MRE11):c.1225+1G>A rs876658665
NM_005591.3(MRE11):c.1226-2A>C rs1555009945
NM_005591.3(MRE11):c.1327-2A>G rs878854776
NM_005591.3(MRE11):c.154-1G>A rs1555017290
NM_005591.3(MRE11):c.1784-2A>G rs201572020
NM_005591.3(MRE11):c.1867+2T>C rs745677716
NM_005591.3(MRE11):c.1868-2A>C rs1555002450
NM_005591.3(MRE11):c.1926+2T>C rs1555002390
NM_005591.3(MRE11):c.1926+2_1926+5delTAAG rs1555002387
NM_005591.3(MRE11):c.1927-1G>T rs1295485913
NM_005591.3(MRE11):c.1927-2A>G rs587781822
NM_005591.3(MRE11):c.1960_1979dup20 (p.Lys661Thrfs) rs587781442
NM_005591.3(MRE11):c.2070+2T>A rs786202801
NM_005591.3(MRE11):c.21-6_26delATATAGTGATGA rs587780138
NM_005591.3(MRE11):c.315-2A>G rs876659145
NM_005591.3(MRE11):c.3G>T (p.Met1Ile) rs1555018818
NM_005591.3(MRE11):c.402+2_402+3delTAinsGGG rs1555015413
NM_005591.3(MRE11):c.545-1G>A rs1451215042
NM_005591.3(MRE11):c.660-1G>A rs876658917
NM_005732.3(RAD50):c.1052-2A>C rs876660957
NM_005732.3(RAD50):c.1245+2C>G rs776276760
NM_005732.3(RAD50):c.129+1G>T rs1339714611
NM_005732.3(RAD50):c.129+2T>A rs748086984
NM_005732.3(RAD50):c.130-1G>A
NM_005732.3(RAD50):c.130-1G>T rs876658784
NM_005732.3(RAD50):c.130-2A>G
NM_005732.3(RAD50):c.1631_1635+1delACAAAG rs1235022794
NM_005732.3(RAD50):c.1636-2A>G rs1554098466
NM_005732.3(RAD50):c.1794-1G>A rs587781742
NM_005732.3(RAD50):c.1794-1G>T rs587781742
NM_005732.3(RAD50):c.1969+1G>A rs587782078
NM_005732.3(RAD50):c.1970-1G>A rs1554098662
NM_005732.3(RAD50):c.1970-2A>G rs876660728
NM_005732.3(RAD50):c.1A>G (p.Met1Val) rs876658212
NM_005732.3(RAD50):c.213+1G>T rs765484171
NM_005732.3(RAD50):c.2718+1_2718+5delGTAAG rs876659158
NM_005732.3(RAD50):c.2829+5G>C rs1446519890
NM_005732.3(RAD50):c.2830-2A>C rs1554099356
NM_005732.3(RAD50):c.3037-2A>G rs1554099774
NM_005732.3(RAD50):c.3164+1G>A rs786203805
NM_005732.3(RAD50):c.3164+1G>C rs786203805
NM_005732.3(RAD50):c.3164+1G>T rs786203805
NM_005732.3(RAD50):c.3389+1G>A rs762648843
NM_005732.3(RAD50):c.3475+2T>C rs761168506
NM_005732.3(RAD50):c.3476-10_3480del15 rs587782866
NM_005732.3(RAD50):c.3476-1G>C
NM_005732.3(RAD50):c.3476-?_3618+?dup
NM_005732.3(RAD50):c.3612_3618+5delACAAAAGGCAGG rs995265408
NM_005732.3(RAD50):c.3618+1G>A rs587781925
NM_005732.3(RAD50):c.3639delT (p.Arg1214Alafs) rs1554101172
NM_005732.3(RAD50):c.366-2A>G rs1554097755
NM_005732.3(RAD50):c.3715C>T (p.Arg1239Ter) rs876658770
NM_005732.3(RAD50):c.3753-1G>A rs1554101314
NM_005732.3(RAD50):c.3770C>A (p.Ser1257Ter) rs1060501933
NM_005732.3(RAD50):c.3779delG (p.Arg1260Leufs) rs786202259
NM_005732.3(RAD50):c.3G>A (p.Met1Ile) rs377260382
NM_005732.3(RAD50):c.552-1G>A rs1236278956
NM_005732.3(RAD50):c.552-2A>C rs1060501970
NM_005732.3(RAD50):c.756+2T>C rs764122619
NM_005732.3(RAD50):c.756_756+2delGGTinsTG rs1554097840
NM_005732.3(RAD50):c.757-1G>C rs1554098156
NM_005732.3(RAD50):c.886-4_890delACAGGTTTTinsCAAATAAA rs1554098191
NM_006361.5(HOXB13):c.251G>A (p.Gly84Glu) rs138213197
NM_007194.3(CHEK2):c.1096-3_1098delTAGATT rs876659838
NM_007194.3(CHEK2):c.1375+1_1375+2delGT rs876660801
NM_007194.3(CHEK2):c.1501delG (p.Glu501Argfs) rs1131691045
NM_007194.3(CHEK2):c.1558_1559insC (p.Lys520Thrfs) rs876658646
NM_007194.3(CHEK2):c.1567delC (p.Arg523Valfs) rs587782684
NM_007194.3(CHEK2):c.846+4_846+7delAGTA rs764884641
NM_007194.3(CHEK2):c.847-14_847-2delCCCCCTCTTCTTA rs1293617484
NM_007194.4(CHEK2):c.1008+1G>A rs1555915298
NM_007194.4(CHEK2):c.1008+1G>T rs1555915298
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.1009-2A>G rs766158073
NM_007194.4(CHEK2):c.1095+1G>A rs768172525
NM_007194.4(CHEK2):c.1095+1G>T rs768172525
NM_007194.4(CHEK2):c.1096-1G>A rs1060502716
NM_007194.4(CHEK2):c.1096-1G>C rs1060502716
NM_007194.4(CHEK2):c.1164del (p.Thr389Profs)
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985
NM_007194.4(CHEK2):c.1259+1G>C rs121908707
NM_007194.4(CHEK2):c.1260-1G>A rs786201906
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1375+2T>A rs1483241325
NM_007194.4(CHEK2):c.1376-1G>A rs876659287
NM_007194.4(CHEK2):c.1376-1G>C rs876659287
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1461+1G>T rs886039629
NM_007194.4(CHEK2):c.1462-1G>A rs1060502698
NM_007194.4(CHEK2):c.1462-2A>G rs587782575
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.319+1G>A rs765080766
NM_007194.4(CHEK2):c.319+2T>A rs587782401
NM_007194.4(CHEK2):c.320-1G>T
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.445-1G>A
NM_007194.4(CHEK2):c.445-1G>C rs587782830
NM_007194.4(CHEK2):c.445-2A>G
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.593-1G>A rs786203229
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.683+1G>A rs786203650
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.684-1G>A rs1298667185
NM_007194.4(CHEK2):c.792+1G>A rs1555921011
NM_007194.4(CHEK2):c.792+2T>C rs545982789
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.793-2A>G rs1555920257
NM_007194.4(CHEK2):c.846+1G>A rs864622149
NM_007194.4(CHEK2):c.846+1G>C rs864622149
NM_007194.4(CHEK2):c.908+1G>A rs587781699
NM_007194.4(CHEK2):c.909-1G>A rs886039721
NM_007194.4(CHEK2):c.909-2A>G rs1555915589
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192
NM_007294.3(BRCA1):c.*1271T>C rs1555574034
NM_007294.3(BRCA1):c.110C>G (p.Thr37Arg) rs80356880
NM_007294.3(BRCA1):c.115T>A (p.Cys39Ser) rs80357164
NM_007294.3(BRCA1):c.116G>T (p.Cys39Phe) rs80357498
NM_007294.3(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.3(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.3(BRCA1):c.131G>A (p.Cys44Tyr) rs80357446
NM_007294.3(BRCA1):c.134+2T>C rs80358131
NM_007294.3(BRCA1):c.135-1G>A rs80358158
NM_007294.3(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150
NM_007294.3(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.3(BRCA1):c.212+1delG rs786203526
NM_007294.3(BRCA1):c.212G>T (p.Arg71Met) rs80356913
NM_007294.3(BRCA1):c.301+1G>A rs587782173
NM_007294.3(BRCA1):c.301+1G>C rs587782173
NM_007294.3(BRCA1):c.301+1G>T rs587782173
NM_007294.3(BRCA1):c.302-1G>T rs80358116
NM_007294.3(BRCA1):c.302-2A>G rs80358011
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4185+2_4185+22del21insA rs273900724
NM_007294.3(BRCA1):c.4185G>C (p.Gln1395His) rs80356857
NM_007294.3(BRCA1):c.4357+1G>C rs80358027
NM_007294.3(BRCA1):c.4357+2T>G rs80358152
NM_007294.3(BRCA1):c.441+1G>A rs397509172
NM_007294.3(BRCA1):c.441+2T>A rs397509173
NM_007294.3(BRCA1):c.441+2T>C rs397509173
NM_007294.3(BRCA1):c.441G>C (p.Leu147Phe) rs748876625
NM_007294.3(BRCA1):c.4485-1G>A rs80358189
NM_007294.3(BRCA1):c.4485-2A>G rs80358054
NM_007294.3(BRCA1):c.4675+3A>T rs80358082
NM_007294.3(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.3(BRCA1):c.4676-1G>A rs80358008
NM_007294.3(BRCA1):c.4676-1G>C rs80358008
NM_007294.3(BRCA1):c.4676-2A>G rs80358096
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.3(BRCA1):c.4986+3G>C rs80358023
NM_007294.3(BRCA1):c.4986+4A>T rs80358087
NM_007294.3(BRCA1):c.4986+6T>G rs80358086
NM_007294.3(BRCA1):c.4987-1G>C rs730881495
NM_007294.3(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.3(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.3(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.3(BRCA1):c.5074+2T>C rs80358089
NM_007294.3(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.3(BRCA1):c.5075-1G>A rs1800747
NM_007294.3(BRCA1):c.5075-2del rs886040913
NM_007294.3(BRCA1):c.5078_5080delCTG (p.Ala1693del) rs80358345
NM_007294.3(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.3(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.3(BRCA1):c.5141T>G (p.Val1714Gly) rs80357243
NM_007294.3(BRCA1):c.5143A>T (p.Ser1715Cys) rs80357222
NM_007294.3(BRCA1):c.5152+2T>C rs886040914
NM_007294.3(BRCA1):c.5153-16_5156del20insAATA rs587781526
NM_007294.3(BRCA1):c.5153-2A>G rs786202545
NM_007294.3(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.3(BRCA1):c.5164T>C (p.Ser1722Pro) rs483353100
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.3(BRCA1):c.5194-12G>A rs80358079
NM_007294.3(BRCA1):c.5194-2A>C rs80358069
NM_007294.3(BRCA1):c.5194-2A>G rs80358069
NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.3(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.3(BRCA1):c.5252G>C (p.Arg1751Pro) rs80357442
NM_007294.3(BRCA1):c.5254G>C (p.Ala1752Pro) rs80357074
NM_007294.3(BRCA1):c.5277G>T (p.Lys1759Asn) rs80356854
NM_007294.3(BRCA1):c.5278-2A>T rs397509253
NM_007294.3(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
NM_007294.3(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.3(BRCA1):c.5332+1G>T rs80358041
NM_007294.3(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.3(BRCA1):c.5333-2A>T rs397509264
NM_007294.3(BRCA1):c.5362G>T (p.Gly1788Cys) rs397509271
NM_007294.3(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
NM_007294.3(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.3(BRCA1):c.5406+5G>C rs80358073
NM_007294.3(BRCA1):c.5406+5G>T rs80358073
NM_007294.3(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.3(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.3(BRCA1):c.5467+2T>C rs80358009
NM_007294.3(BRCA1):c.547+1G>A rs80358030
NM_007294.3(BRCA1):c.547+1G>T rs80358030
NM_007294.3(BRCA1):c.547+2T>A rs80358047
NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.3(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.3(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.3(BRCA1):c.5527G>C (p.Ala1843Pro) rs80357019
NM_007294.3(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.3(BRCA1):c.5578dupC (p.His1860Profs) rs397507254
NM_007294.3(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.3(BRCA1):c.671-1G>T rs80358020
NM_007294.3(BRCA1):c.671-2A>C rs80358108
NM_007294.3(BRCA1):c.80+1G>C rs80358010
NM_007294.3(BRCA1):c.80+5G>A rs80358045
NM_007294.3(BRCA1):c.80+5G>T rs80358045
NM_007294.3(BRCA1):c.81-1G>A rs80358018
NM_007294.3(BRCA1):c.81-2A>G rs397509326
NM_007294.3(BRCA1):c.81-5_81-1delinsACCTTGA rs1555599292
NM_017841.2(SDHAF2):c.347G>A (p.Trp116Ter) rs876658350
NM_017841.2(SDHAF2):c.371-2A>G rs375280597
NM_017849.3(TMEM127):c.570delC (p.Thr191Argfs) rs1215337884
NM_020975.4(RET):c.2410G>A (p.Val804Met) rs79658334
NM_024675.3(PALB2):c.108+1G>A rs1060499814
NM_024675.3(PALB2):c.109-2A>G rs730881897
NM_024675.3(PALB2):c.1192delG (p.Val398Cysfs) rs1555461407
NM_024675.3(PALB2):c.1684+1G>A rs1555461148
NM_024675.3(PALB2):c.1684+1G>T rs1555461148
NM_024675.3(PALB2):c.1685-1G>A
NM_024675.3(PALB2):c.1685-2A>G rs754660432
NM_024675.3(PALB2):c.211+1G>A rs1555462026
NM_024675.3(PALB2):c.2116_2129delACTCCTTTAAATACinsG (p.Thr706Glyfs)
NM_024675.3(PALB2):c.212-2A>G rs730881879
NM_024675.3(PALB2):c.2192T>G (p.Leu731Ter)
NM_024675.3(PALB2):c.2218C>T (p.Gln740Ter) rs1555460445
NM_024675.3(PALB2):c.2515-1G>C rs587776417
NM_024675.3(PALB2):c.2559C>T (p.Gly853=) rs180177115
NM_024675.3(PALB2):c.2587-1G>C
NM_024675.3(PALB2):c.2748+1G>A rs753153576
NM_024675.3(PALB2):c.2748+1G>T rs753153576
NM_024675.3(PALB2):c.2748+2T>C rs1060499821
NM_024675.3(PALB2):c.2749-1G>T rs1060502804
NM_024675.3(PALB2):c.2749-2A>C rs1555459747
NM_024675.3(PALB2):c.2834+1G>C rs587776419
NM_024675.3(PALB2):c.2834+1G>T rs587776419
NM_024675.3(PALB2):c.2835-1G>A rs515726099
NM_024675.3(PALB2):c.2835-1G>C rs515726099
NM_024675.3(PALB2):c.2997-2A>C rs1555459421
NM_024675.3(PALB2):c.3113+5G>C rs876659463
NM_024675.3(PALB2):c.3114-1G>A rs886039619
NM_024675.3(PALB2):c.3164dup (p.Tyr1055Terfs)
NM_024675.3(PALB2):c.3201+1G>C rs587776423
NM_024675.3(PALB2):c.3201+1G>T rs587776423
NM_024675.3(PALB2):c.3202-2A>C rs1060499827
NM_024675.3(PALB2):c.3271C>T (p.Gln1091Ter) rs864622138
NM_024675.3(PALB2):c.3350+2C>G rs1555458171
NM_024675.3(PALB2):c.3350+4A>G rs180177136
NM_024675.3(PALB2):c.3350+5G>A rs587782566
NM_024675.3(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_024675.3(PALB2):c.3507_3508delTC (p.His1170Phefs) rs587776428
NM_024675.3(PALB2):c.48+1G>A rs515726118
NM_024675.3(PALB2):c.48+1G>C rs515726118
NM_024675.3(PALB2):c.48+1delG rs1060499829
NM_024675.3(PALB2):c.48+2T>G rs876659679
NM_024675.3(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.3(PALB2):c.49-1G>A
NM_024675.3(PALB2):c.49-2A>T rs786203245
NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097
NM_032043.2(BRIP1):c.1140+1G>A rs1555607628
NM_032043.2(BRIP1):c.1340+1G>A rs1555607022
NM_032043.2(BRIP1):c.1473+1G>A rs748274524
NM_032043.2(BRIP1):c.1474-1G>A rs1555603638
NM_032043.2(BRIP1):c.1475del (p.Gly492Aspfs) rs869312762
NM_032043.2(BRIP1):c.14G>A (p.Trp5Ter) rs1555618738
NM_032043.2(BRIP1):c.1936-1G>A rs1555601204
NM_032043.2(BRIP1):c.205+1delG rs1057517648
NM_032043.2(BRIP1):c.206-1G>T rs1555617934
NM_032043.2(BRIP1):c.206-2A>G rs786203700
NM_032043.2(BRIP1):c.2097+1G>C rs786202941
NM_032043.2(BRIP1):c.2379+1G>A rs1555590286
NM_032043.2(BRIP1):c.2380-1G>A
NM_032043.2(BRIP1):c.2492+1G>C
NM_032043.2(BRIP1):c.2492+2dupT rs587780240
NM_032043.2(BRIP1):c.2493-1G>C rs786203451
NM_032043.2(BRIP1):c.2575+2dup rs1555574711
NM_032043.2(BRIP1):c.2576-2A>G rs869312763
NM_032043.2(BRIP1):c.2905+1G>A rs876660203
NM_032043.2(BRIP1):c.2947delA (p.Ile983Leufs) rs774684620
NM_032043.2(BRIP1):c.3173_3179delTGACAGTinsCTC (p.Leu1058Profs) rs1555572799
NM_032043.2(BRIP1):c.3196delT (p.Ser1066Hisfs) rs730881645
NM_032043.2(BRIP1):c.3232A>T (p.Lys1078Ter) rs786202927
NM_032043.2(BRIP1):c.3260dupA (p.Asn1087Lysfs) rs771654971
NM_032043.2(BRIP1):c.3390_3393delCTAT (p.Tyr1131Leufs) rs778664039
NM_032043.2(BRIP1):c.3411_3420del10 (p.Tyr1137Terfs) rs876660100
NM_032043.2(BRIP1):c.3440dup (p.Asn1147Lysfs) rs753683450
NM_032043.2(BRIP1):c.3525dupT (p.Ile1176Tyrfs) rs777367075
NM_032043.2(BRIP1):c.379+1G>A
NM_032043.2(BRIP1):c.380-2A>G
NM_032043.2(BRIP1):c.507G>A (p.Gln169=) rs876660937
NM_032043.2(BRIP1):c.508-1G>C rs864622277
NM_032043.2(BRIP1):c.508-2A>T rs876659707
NM_032043.2(BRIP1):c.627+1G>A rs587780833
NM_032043.2(BRIP1):c.628-5_629delTACAGCC rs1555609402
NM_032043.2(BRIP1):c.751C>T (p.Arg251Cys) rs752309409
NM_032043.2(BRIP1):c.918+1G>A rs587781655
NM_032043.2(BRIP1):c.93+1G>T rs587782047
NM_032043.2:c.2999_3002delTTAG
NM_058216.1(RAD51C):c.571+1delG rs1327086366
NM_058216.1(RAD51C):c.706-1G>T rs1555599090
NM_058216.2(RAD51C):c.1005C>A (p.Cys335Ter) rs759292615
NM_058216.2(RAD51C):c.1018C>T (p.Gln340Ter) rs1555605103
NM_058216.2(RAD51C):c.1026+5_1026+7delGTA rs587781410
NM_058216.2(RAD51C):c.145+1G>A rs757128712
NM_058216.2(RAD51C):c.146-2A>G rs1555593457
NM_058216.2(RAD51C):c.146-4_146-2delTCA rs1555593450
NM_058216.2(RAD51C):c.404+2T>C rs730881931
NM_058216.2(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.2(RAD51C):c.404G>C (p.Cys135Ser) rs767796996
NM_058216.2(RAD51C):c.405-1G>C rs587782036
NM_058216.2(RAD51C):c.414G>C (p.Leu138Phe) rs267606999
NM_058216.2(RAD51C):c.572-1G>C rs1413872299
NM_058216.2(RAD51C):c.572-2A>G rs145310733
NM_058216.2(RAD51C):c.705+1G>A rs876658644
NM_058216.2(RAD51C):c.773G>A (p.Arg258His) rs267606997
NM_058216.2(RAD51C):c.837+1delG rs1555599288
NM_058216.2(RAD51C):c.838-2A>G rs748589398
NM_058216.2(RAD51C):c.904+1G>T rs1555602159
NM_058216.2(RAD51C):c.904+5G>T rs587782702
NM_058216.2(RAD51C):c.905-2A>C rs779582317
NM_058216.2(RAD51C):c.905-2_905-1delAG rs587781995
NM_058216.2(RAD51C):c.905-2delA rs876658652
NM_058216.2(RAD51C):c.905-3_906delCAGGG rs730881941
NM_058216.2(RAD51C):c.934C>T (p.Arg312Trp) rs730881932
NM_058216.2(RAD51C):c.964delA (p.Arg322Glyfs) rs1555603056
NM_058216.2(RAD51C):c.965+5G>A rs774586107
NM_058216.2(RAD51C):c.994C>T (p.Gln332Ter) rs1555605074
NM_058216.3(RAD51C):c.706-2A>C
NM_058216.3(RAD51C):c.837+2T>C
NM_058216.3(RAD51C):c.904+1G>A
NM_130799.2(MEN1):c.1013T>C (p.Leu338Pro) rs1114167480
NM_130799.2(MEN1):c.1049+1G>C rs1114167489
NM_130799.2(MEN1):c.1064G>A (p.Arg355Gln) rs1114167474
NM_130799.2(MEN1):c.1102G>A (p.Ala368Thr) rs1114167473
NM_130799.2(MEN1):c.1102G>C (p.Ala368Pro) rs1114167473
NM_130799.2(MEN1):c.1127T>C (p.Leu376Pro) rs1114167471
NM_130799.2(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_130799.2(MEN1):c.1258A>T (p.Ile420Phe) rs1114167526
NM_130799.2(MEN1):c.1281T>A (p.Ser427Arg) rs1114167528
NM_130799.2(MEN1):c.133G>A (p.Glu45Lys) rs1114167491
NM_130799.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_130799.2(MEN1):c.1669A>G (p.Lys557Glu) rs1114167517
NM_130799.2(MEN1):c.1708_1728del21 (p.Ile570_Lys576del) rs1555163115
NM_130799.2(MEN1):c.1725delC (p.Lys576Serfs) rs1555163124
NM_130799.2(MEN1):c.1730T>C (p.Leu577Pro) rs794728634
NM_130799.2(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_130799.2(MEN1):c.446-2A>G rs886042035
NM_130799.2(MEN1):c.514G>T (p.Asp172Tyr) rs1114167494
NM_130799.2(MEN1):c.515A>T (p.Asp172Val) rs794728618
NM_130799.2(MEN1):c.526G>C (p.Ala176Pro) rs376872829
NM_130799.2(MEN1):c.668T>C (p.Leu223Pro) rs886039415
NM_130799.2(MEN1):c.703G>A (p.Glu235Lys) rs1114167488
NM_130799.2(MEN1):c.722G>A (p.Cys241Tyr) rs794728624
NM_130799.2(MEN1):c.788T>C (p.Leu263Pro) rs1114167502
NM_130799.2(MEN1):c.824+1G>C rs1060499976
NM_130799.2(MEN1):c.825-1G>A rs1114167505
NM_130799.2(MEN1):c.830C>A (p.Pro277His) rs1060499973
NM_130799.2(MEN1):c.841G>A (p.Gly281Arg) rs1114167493
NM_130799.2(MEN1):c.913-2A>G rs1114167498
NM_130799.2(MEN1):c.922T>C (p.Ser308Pro) rs1064793169
NM_130799.2(MEN1):c.950A>G (p.His317Arg) rs1114167495
NM_133509.3(RAD51B):c.84G>A (p.Gln28=) rs764896402
NM_144997.5(FLCN):c.1433-2A>G rs398124528
NM_144997.5(FLCN):c.1584delC (p.Glu530Argfs) rs1131690827
NM_144997.6(FLCN):c.1176+1G>T rs1555607929
NM_177438.2(DICER1):c.2041-2A>G rs1131691204
NM_177438.2(DICER1):c.4050+1G>A rs875989783
NM_177438.2(DICER1):c.5364+1G>A rs1131691227

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.