NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
0.00016
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_002528.7(NTHL1):c.526-1G>A
|
rs779757251
|
0.00008
|
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs)
|
rs587781442
|
0.00007
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)
|
rs199907548
|
0.00006
|
NM_000136.3(FANCC):c.843+5G>A
|
rs369082921
|
0.00006
|
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met)
|
rs121434569
|
0.00006
|
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter)
|
rs143153871
|
0.00006
|
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)
|
rs730881645
|
0.00006
|
NM_032043.3(BRIP1):c.918+1G>A
|
rs587781655
|
0.00006
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys)
|
rs145029382
|
0.00004
|
NM_000136.3(FANCC):c.521+1G>A
|
rs145394391
|
0.00004
|
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)
|
rs745361721
|
0.00004
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
0.00004
|
NM_001048174.2(MUTYH):c.421-2A>C
|
rs786203161
|
0.00004
|
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)
|
rs372673338
|
0.00004
|
NM_002439.5(MSH3):c.1341-1G>T
|
rs61754780
|
0.00004
|
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)
|
rs753029097
|
0.00004
|
NM_004168.4(SDHA):c.1663+3G>C
|
rs751904543
|
0.00004
|
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)
|
rs139881415
|
0.00004
|
NM_005732.4(RAD50):c.3G>A (p.Met1Ile)
|
rs377260382
|
0.00004
|
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
0.00003
|
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro)
|
rs80359066
|
0.00003
|
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly)
|
rs372670098
|
0.00003
|
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)
|
rs759263820
|
0.00003
|
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter)
|
rs879253880
|
0.00003
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_001048174.2(MUTYH):c.638G>A (p.Arg213Gln)
|
rs1060501346
|
0.00003
|
NM_002439.5(MSH3):c.1764-1G>A
|
rs367544716
|
0.00003
|
NM_002439.5(MSH3):c.2436-1G>A
|
rs200639359
|
0.00003
|
NM_002485.5(NBN):c.897-2A>T
|
rs864622090
|
0.00003
|
NM_003000.3(SDHB):c.650G>A (p.Arg217His)
|
rs747518441
|
0.00003
|
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys)
|
rs898854295
|
0.00003
|
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg)
|
rs771111180
|
0.00003
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter)
|
rs886039439
|
0.00003
|
NM_032043.3(BRIP1):c.2492+2dup
|
rs587780240
|
0.00003
|
NM_000051.4(ATM):c.2466+1552G>C
|
rs963653732
|
0.00002
|
NM_000051.4(ATM):c.3994-2A>G
|
rs587782276
|
0.00002
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
NM_002485.5(NBN):c.37+1G>A
|
rs574673404
|
0.00002
|
NM_002878.4(RAD51D):c.576+1G>A
|
rs781161543
|
0.00002
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)
|
rs750621215
|
0.00002
|
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu)
|
rs201372601
|
0.00002
|
NM_005591.4(MRE11):c.1867+2T>C
|
rs745677716
|
0.00002
|
NM_005591.4(MRE11):c.402+1G>A
|
rs929767929
|
0.00002
|
NM_005591.4(MRE11):c.545-1G>A
|
rs1451215042
|
0.00002
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)
|
rs267606997
|
0.00002
|
NM_000038.6(APC):c.3083G>T (p.Ser1028Ile)
|
rs1114167617
|
0.00001
|
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter)
|
rs587779813
|
0.00001
|
NM_000051.4(ATM):c.1695A>G (p.Glu565=)
|
rs780932013
|
0.00001
|
NM_000051.4(ATM):c.186-1G>A
|
rs1259911051
|
0.00001
|
NM_000051.4(ATM):c.2376+3A>T
|
rs758083563
|
0.00001
|
NM_000051.4(ATM):c.2838+4A>G
|
rs876659907
|
0.00001
|
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr)
|
rs876660628
|
0.00001
|
NM_000051.4(ATM):c.3078-17A>G
|
rs2081636353
|
0.00001
|
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)
|
rs730881389
|
0.00001
|
NM_000051.4(ATM):c.3994-159A>G
|
rs864622543
|
0.00001
|
NM_000051.4(ATM):c.496+3A>G
|
rs876658311
|
0.00001
|
NM_000051.4(ATM):c.5005+1G>T
|
rs1057517427
|
0.00001
|
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro)
|
rs747800057
|
0.00001
|
NM_000051.4(ATM):c.5763-1056G>A
|
rs1325461375
|
0.00001
|
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)
|
rs730881394
|
0.00001
|
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys)
|
rs876658415
|
0.00001
|
NM_000051.4(ATM):c.6095+1G>A
|
rs587781584
|
0.00001
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000051.4(ATM):c.6573-2A>G
|
rs751168951
|
0.00001
|
NM_000051.4(ATM):c.6807G>A (p.Gln2269=)
|
rs587780638
|
0.00001
|
NM_000051.4(ATM):c.72+1G>A
|
rs786204088
|
0.00001
|
NM_000051.4(ATM):c.7307+3_7307+4insGTTC
|
rs587782288
|
0.00001
|
NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu)
|
rs1324075885
|
0.00001
|
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg)
|
rs587782692
|
0.00001
|
NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro)
|
rs769142993
|
0.00001
|
NM_000051.4(ATM):c.7914G>T (p.Trp2638Cys)
|
rs758843096
|
0.00001
|
NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn)
|
rs730881384
|
0.00001
|
NM_000051.4(ATM):c.8010G>A (p.Lys2670=)
|
rs1013244700
|
0.00001
|
NM_000051.4(ATM):c.8045C>G (p.Thr2682Ser)
|
rs1175177178
|
0.00001
|
NM_000051.4(ATM):c.8105T>G (p.Ile2702Arg)
|
rs876659735
|
0.00001
|
NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu)
|
rs938431501
|
0.00001
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
NM_000051.4(ATM):c.967A>G (p.Ile323Val)
|
rs587781511
|
0.00001
|
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg)
|
rs747281324
|
0.00001
|
NM_000057.4(BLM):c.2075-1G>A
|
rs1231598990
|
0.00001
|
NM_000057.4(BLM):c.2824-2A>T
|
rs745538883
|
0.00001
|
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg)
|
rs746218707
|
0.00001
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter)
|
rs876661261
|
0.00001
|
NM_000059.4(BRCA2):c.7961T>C (p.Leu2654Pro)
|
rs80359023
|
0.00001
|
NM_000059.4(BRCA2):c.7970A>C (p.Lys2657Thr)
|
rs1555286874
|
0.00001
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
NM_000059.4(BRCA2):c.9648+1G>C
|
rs730881573
|
0.00001
|
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp)
|
rs749714198
|
0.00001
|
NM_000136.3(FANCC):c.166-2A>G
|
rs587777945
|
0.00001
|
NM_000136.3(FANCC):c.166-4_166-1dup
|
rs746016938
|
0.00001
|
NM_000136.3(FANCC):c.522-1G>C
|
rs1014112491
|
0.00001
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
NM_000143.4(FH):c.1204C>T (p.His402Tyr)
|
rs760360724
|
0.00001
|
NM_000143.4(FH):c.151C>T (p.Arg51Trp)
|
rs778678782
|
0.00001
|
NM_000143.4(FH):c.194A>G (p.Asp65Gly)
|
rs145116688
|
0.00001
|
NM_000143.4(FH):c.222A>T (p.Arg74Ser)
|
rs146739519
|
0.00001
|
NM_000143.4(FH):c.431G>A (p.Gly144Glu)
|
rs1057521425
|
0.00001
|
NM_000143.4(FH):c.583A>G (p.Met195Val)
|
rs1553341364
|
0.00001
|
NM_000143.4(FH):c.908T>C (p.Leu303Ser)
|
rs201502246
|
0.00001
|
NM_000143.4(FH):c.914T>C (p.Phe305Ser)
|
rs1439046582
|
0.00001
|
NM_000143.4(FH):c.923C>G (p.Ala308Gly)
|
rs1057524385
|
0.00001
|
NM_000179.3(MSH6):c.261-1G>C
|
rs863225402
|
0.00001
|
NM_000179.3(MSH6):c.2926C>T (p.Arg976Cys)
|
rs587782386
|
0.00001
|
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His)
|
rs779617676
|
0.00001
|
NM_000179.3(MSH6):c.3447A>C (p.Leu1149Phe)
|
rs876660151
|
0.00001
|
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val)
|
rs182024561
|
0.00001
|
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser)
|
rs587779285
|
0.00001
|
NM_000179.3(MSH6):c.3801+1G>T
|
rs876660943
|
0.00001
|
NM_000179.3(MSH6):c.4053_4081dup (p.*1361Leuext*3)
|
rs2104583584
|
0.00001
|
NM_000179.3(MSH6):c.628-2A>G
|
rs1114167725
|
0.00001
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
NM_000251.3(MSH2):c.2458+2T>C
|
rs1278858560
|
0.00001
|
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp)
|
rs587779162
|
0.00001
|
NM_000314.8(PTEN):c.518G>A (p.Arg173His)
|
rs121913294
|
0.00001
|
NM_000314.8(PTEN):c.77C>T (p.Thr26Ile)
|
rs786204853
|
0.00001
|
NM_000535.7(PMS2):c.1144+1G>A
|
rs373885654
|
0.00001
|
NM_000535.7(PMS2):c.164-1G>A
|
rs763308607
|
0.00001
|
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)
|
rs730881915
|
0.00001
|
NM_000535.7(PMS2):c.23+1G>T
|
rs587782074
|
0.00001
|
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)
|
rs188006077
|
0.00001
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
0.00001
|
NM_000535.7(PMS2):c.706-2A>G
|
rs745487791
|
0.00001
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.541C>T (p.Arg181Cys)
|
rs587782596
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000551.4(VHL):c.242C>T (p.Pro81Leu)
|
rs193922608
|
0.00001
|
NM_000551.4(VHL):c.492G>C (p.Gln164His)
|
rs1352275281
|
0.00001
|
NM_000791.4(DHFR):c.-476C>G
|
rs1196929384
|
0.00001
|
NM_001048174.2(MUTYH):c.-6-2A>G
|
rs1383826978
|
0.00001
|
NM_001048174.2(MUTYH):c.1390A>T (p.Lys464Ter)
|
rs863224502
|
0.00001
|
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs)
|
rs587780086
|
0.00001
|
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg)
|
rs558707786
|
0.00001
|
NM_001048174.2(MUTYH):c.242G>C (p.Arg81Pro)
|
rs761763725
|
0.00001
|
NM_001048174.2(MUTYH):c.264+10C>T
|
rs369242529
|
0.00001
|
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)
|
rs777184451
|
0.00001
|
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met)
|
rs776487884
|
0.00001
|
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu)
|
rs768553551
|
0.00001
|
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)
|
rs769237459
|
0.00001
|
NM_001048174.2(MUTYH):c.992C>T (p.Pro331Leu)
|
rs1060501323
|
0.00001
|
NM_001127511.3(APC):c.-192A>G
|
rs879253784
|
0.00001
|
NM_001128425.2(MUTYH):c.36+1G>A
|
rs1553136984
|
0.00001
|
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp)
|
rs863224810
|
0.00001
|
NM_002439.5(MSH3):c.1341-2A>G
|
rs750876165
|
0.00001
|
NM_002439.5(MSH3):c.136C>T (p.Gln46Ter)
|
rs779180469
|
0.00001
|
NM_002439.5(MSH3):c.238-2A>G
|
rs1749285874
|
0.00001
|
NM_002439.5(MSH3):c.358+2T>G
|
rs1450314617
|
0.00001
|
NM_002439.5(MSH3):c.76C>T (p.Arg26Ter)
|
rs770190473
|
0.00001
|
NM_002439.5(MSH3):c.909G>C (p.Lys303Asn)
|
rs757164724
|
0.00001
|
NM_002485.5(NBN):c.2070+2del
|
rs1057517075
|
0.00001
|
NM_002485.5(NBN):c.2184+1G>T
|
rs756363734
|
0.00001
|
NM_002485.5(NBN):c.2234+2T>G
|
rs142301194
|
0.00001
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
NM_002485.5(NBN):c.7A>T (p.Lys3Ter)
|
rs779098734
|
0.00001
|
NM_002528.7(NTHL1):c.795del (p.Glu265fs)
|
rs1173366565
|
0.00001
|
NM_002878.4(RAD51D):c.739-1G>A
|
rs1555567202
|
0.00001
|
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp)
|
rs778952116
|
0.00001
|
NM_003000.3(SDHB):c.540G>A (p.Leu180=)
|
rs528442805
|
0.00001
|
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys)
|
rs1131691058
|
0.00001
|
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)
|
rs587778661
|
0.00001
|
NM_003001.5(SDHC):c.78-1G>A
|
rs786202200
|
0.00001
|
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys)
|
rs202198133
|
0.00001
|
NM_004168.4(SDHA):c.1220A>G (p.His407Arg)
|
rs374087393
|
0.00001
|
NM_004168.4(SDHA):c.150+1G>A
|
rs1057523165
|
0.00001
|
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)
|
rs9809219
|
0.00001
|
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)
|
rs752360961
|
0.00001
|
NM_004168.4(SDHA):c.1795-3C>G
|
rs544544409
|
0.00001
|
NM_004168.4(SDHA):c.1909-2A>G
|
rs747939816
|
0.00001
|
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp)
|
rs553257776
|
0.00001
|
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile)
|
rs587781720
|
0.00001
|
NM_004168.4(SDHA):c.923C>T (p.Thr308Met)
|
rs1457666982
|
0.00001
|
NM_004360.5(CDH1):c.1566-1G>C
|
rs113583899
|
0.00001
|
NM_004655.4(AXIN2):c.1201-2A>G
|
rs775783026
|
0.00001
|
NM_005431.2(XRCC2):c.39+1G>A
|
rs560785131
|
0.00001
|
NM_005431.2(XRCC2):c.39+2T>A
|
rs758499439
|
0.00001
|
NM_005431.2(XRCC2):c.49C>T (p.Arg17Ter)
|
rs750903875
|
0.00001
|
NM_005591.4(MRE11):c.1225+2T>C
|
rs145058858
|
0.00001
|
NM_005591.4(MRE11):c.1326+2T>G
|
rs1475506136
|
0.00001
|
NM_005591.4(MRE11):c.2070+2T>A
|
rs786202801
|
0.00001
|
NM_005591.4(MRE11):c.315-2A>G
|
rs876659145
|
0.00001
|
NM_005732.4(RAD50):c.1052-2A>C
|
rs876660957
|
0.00001
|
NM_005732.4(RAD50):c.129+2T>A
|
rs748086984
|
0.00001
|
NM_005732.4(RAD50):c.130-1G>T
|
rs876658784
|
0.00001
|
NM_005732.4(RAD50):c.1794-1G>A
|
rs587781742
|
0.00001
|
NM_005732.4(RAD50):c.213+1G>T
|
rs765484171
|
0.00001
|
NM_005732.4(RAD50):c.3164+1G>T
|
rs786203805
|
0.00001
|
NM_005732.4(RAD50):c.3939A>T (p.Ter1313Tyr)
|
rs121912629
|
0.00001
|
NM_005732.4(RAD50):c.552-1G>A
|
rs1236278956
|
0.00001
|
NM_005732.4(RAD50):c.756+2T>C
|
rs764122619
|
0.00001
|
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn)
|
rs28909980
|
0.00001
|
NM_007194.4(CHEK2):c.1462-1G>A
|
rs1060502698
|
0.00001
|
NM_007194.4(CHEK2):c.319+1G>A
|
rs765080766
|
0.00001
|
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr)
|
rs1060502688
|
0.00001
|
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)
|
rs72552322
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007194.4(CHEK2):c.792+2T>C
|
rs545982789
|
0.00001
|
NM_007194.4(CHEK2):c.846+1G>C
|
rs864622149
|
0.00001
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
NM_007294.4(BRCA1):c.4097-2A>G
|
rs80358019
|
0.00001
|
NM_007294.4(BRCA1):c.4185+4105C>T
|
rs1597853155
|
0.00001
|
NM_007294.4(BRCA1):c.5407-25T>A
|
rs758780152
|
0.00001
|
NM_015450.3(POT1):c.1506-1G>A
|
rs1418539002
|
0.00001
|
NM_015450.3(POT1):c.233T>C (p.Ile78Thr)
|
rs947005337
|
0.00001
|
NM_017841.4(SDHAF2):c.347G>A (p.Trp116Ter)
|
rs876658350
|
0.00001
|
NM_017841.4(SDHAF2):c.37-1G>C
|
rs761956866
|
0.00001
|
NM_017841.4(SDHAF2):c.37-2A>G
|
rs1344681005
|
0.00001
|
NM_017841.4(SDHAF2):c.371-2A>G
|
rs375280597
|
0.00001
|
NM_024675.4(PALB2):c.108+1G>A
|
rs1060499814
|
0.00001
|
NM_024675.4(PALB2):c.2748+2dup
|
rs1370694908
|
0.00001
|
NM_024675.4(PALB2):c.3113+5G>C
|
rs876659463
|
0.00001
|
NM_024675.4(PALB2):c.3201+1G>T
|
rs587776423
|
0.00001
|
NM_024675.4(PALB2):c.3350+4A>C
|
rs180177136
|
0.00001
|
NM_024675.4(PALB2):c.3350+5G>A
|
rs587782566
|
0.00001
|
NM_032043.3(BRIP1):c.1794+1G>A
|
rs766516963
|
0.00001
|
NM_032043.3(BRIP1):c.1794+1G>C
|
rs766516963
|
0.00001
|
NM_032043.3(BRIP1):c.2379+1G>A
|
rs1555590286
|
0.00001
|
NM_032043.3(BRIP1):c.2905+3A>G
|
rs1555573247
|
0.00001
|
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter)
|
rs1420431000
|
0.00001
|
NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs)
|
rs777367075
|
0.00001
|
NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter)
|
rs759292615
|
0.00001
|
NM_058216.3(RAD51C):c.404+2T>C
|
rs730881931
|
0.00001
|
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)
|
rs267606999
|
0.00001
|
NM_058216.3(RAD51C):c.572-2A>G
|
rs145310733
|
0.00001
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
NM_058216.3(RAD51C):c.905-2A>C
|
rs779582317
|
0.00001
|
NM_058216.3(RAD51C):c.905-2del
|
rs876658652
|
0.00001
|
NM_144997.7(FLCN):c.1433-2A>G
|
rs398124528
|
0.00001
|
NC_000009.12:g.95482199_95482204del
|
|
|
NM_000038.6(APC):c.1312+1G>T
|
rs863225310
|
|
NM_000038.6(APC):c.135+1G>C
|
|
|
NM_000038.6(APC):c.135+1G>T
|
rs750508765
|
|
NM_000038.6(APC):c.136-1G>A
|
rs1554069481
|
|
NM_000038.6(APC):c.1409-3T>G
|
rs1554081629
|
|
NM_000038.6(APC):c.1549-8A>G
|
|
|
NM_000038.6(APC):c.1626+2T>G
|
rs876658858
|
|
NM_000038.6(APC):c.1627-3C>A
|
|
|
NM_000038.6(APC):c.1743+1G>T
|
rs761458613
|
|
NM_000038.6(APC):c.1743+2T>A
|
|
|
NM_000038.6(APC):c.1743+2T>C
|
|
|
NM_000038.6(APC):c.1743G>C (p.Lys581Asn)
|
rs1114167592
|
|
NM_000038.6(APC):c.1743G>T (p.Lys581Asn)
|
|
|
NM_000038.6(APC):c.1902T>G (p.Ser634Arg)
|
rs876659460
|
|
NM_000038.6(APC):c.1959-2A>C
|
|
|
NM_000038.6(APC):c.1959-2A>G
|
rs876658214
|
|
NM_000038.6(APC):c.1987C>T (p.Gln663Ter)
|
rs730881240
|
|
NM_000038.6(APC):c.220+3A>G
|
rs1554069573
|
|
NM_000038.6(APC):c.221-1G>A
|
rs863225327
|
|
NM_000038.6(APC):c.2877_2898del (p.Asn961fs)
|
|
|
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr)
|
rs1114167603
|
|
NM_000038.6(APC):c.3077A>G (p.Asn1026Ser)
|
rs1114167603
|
|
NM_000038.6(APC):c.3443_3444del (p.Tyr1147_Ser1148insTer)
|
rs1765424969
|
|
NM_000038.6(APC):c.3472A>T (p.Arg1158Ter)
|
rs587779790
|
|
NM_000038.6(APC):c.386A>T (p.Glu129Val)
|
rs759662717
|
|
NM_000038.6(APC):c.4139C>T (p.Thr1380Ile)
|
rs876660713
|
|
NM_000038.6(APC):c.422+2T>C
|
rs879254169
|
|
NM_000038.6(APC):c.423-3958C>T
|
|
|
NM_000038.6(APC):c.423-3_423-2del
|
rs863225354
|
|
NM_000038.6(APC):c.423-8A>G
|
rs2149614206
|
|
NM_000038.6(APC):c.4373_4380del (p.Pro1458fs)
|
|
|
NM_000038.6(APC):c.4732T>C (p.Cys1578Arg)
|
rs138367627
|
|
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly)
|
rs138367627
|
|
NM_000038.6(APC):c.4735A>T (p.Ile1579Phe)
|
rs587781935
|
|
NM_000038.6(APC):c.4778dup (p.Pro1594fs)
|
|
|
NM_000038.6(APC):c.5155G>T (p.Glu1719Ter)
|
|
|
NM_000038.6(APC):c.531+3A>C
|
rs1114167550
|
|
NM_000038.6(APC):c.531+5G>A
|
rs587779798
|
|
NM_000038.6(APC):c.532-934A>T
|
|
|
NM_000038.6(APC):c.6102del (p.Glu2035fs)
|
rs2149957064
|
|
NM_000038.6(APC):c.6281del (p.Pro2094fs)
|
rs876660816
|
|
NM_000038.6(APC):c.645+2T>G
|
rs786202351
|
|
NM_000038.6(APC):c.6567del (p.Gly2190fs)
|
|
|
NM_000038.6(APC):c.6760A>T (p.Lys2254Ter)
|
rs2149972499
|
|
NM_000038.6(APC):c.6919dup (p.Ser2307fs)
|
|
|
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter)
|
rs79630786
|
|
NM_000038.6(APC):c.7570A>T (p.Lys2524Ter)
|
|
|
NM_000038.6(APC):c.7612A>T (p.Arg2538Ter)
|
|
|
NM_000038.6(APC):c.7664C>A (p.Ser2555Ter)
|
|
|
NM_000038.6(APC):c.7692dup (p.Arg2565fs)
|
rs1554088600
|
|
NM_000038.6(APC):c.7803_7807del (p.Ser2601fs)
|
rs1580686729
|
|
NM_000038.6(APC):c.7928dup (p.Ile2644fs)
|
|
|
NM_000038.6(APC):c.7935T>A (p.Tyr2645Ter)
|
|
|
NM_000038.6(APC):c.7964_7965del (p.Glu2655fs)
|
rs2149997043
|
|
NM_000038.6(APC):c.8099_8102del (p.Asn2700fs)
|
rs1580690024
|
|
NM_000038.6(APC):c.8310_8311del (p.His2770fs)
|
rs1561622234
|
|
NM_000038.6(APC):c.8332dup (p.Ala2778fs)
|
|
|
NM_000038.6(APC):c.835-17A>G
|
rs1580511131
|
|
NM_000038.6(APC):c.835-8A>G
|
rs1064793022
|
|
NM_000038.6(APC):c.8425dup (p.Val2809fs)
|
rs1580693467
|
|
NM_000038.6(APC):c.8430dup (p.Asn2811Ter)
|
|
|
NM_000038.6(APC):c.8435del (p.Asn2812fs)
|
rs1766745307
|
|
NM_000038.6(APC):c.8446C>T (p.Arg2816Ter)
|
|
|
NM_000038.6(APC):c.933+2T>G
|
rs1057517559
|
|
NM_000038.6(APC):c.933G>A (p.Lys311=)
|
|
|
NM_000038.6(APC):c.933G>C (p.Lys311Asn)
|
rs1762431806
|
|
NM_000051.3:c.2839-3insALU
|
|
|
NM_000051.3:c.3167_3168insALU
|
|
|
NM_000051.3:c.435_436insALU
|
|
|
NM_000051.3:c.4479_4480insL1
|
|
|
NM_000051.3:c.5770_5771insALU
|
|
|
NM_000051.3:c.5889_5890insALU
|
|
|
NM_000051.3:c.7374_7375insAlu
|
|
|
NM_000051.4(ATM):c.1065+1G>C
|
rs201089102
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
NM_000051.4(ATM):c.1066-1G>A
|
rs876660038
|
|
NM_000051.4(ATM):c.1066-2A>T
|
rs1555069514
|
|
NM_000051.4(ATM):c.1066-3_1072del
|
rs1591517089
|
|
NM_000051.4(ATM):c.1236-1G>C
|
rs1408719214
|
|
NM_000051.4(ATM):c.1236-2del
|
rs1565381646
|
|
NM_000051.4(ATM):c.1514T>C (p.Phe505Ser)
|
rs1555071109
|
|
NM_000051.4(ATM):c.1547T>C (p.Leu516Ser)
|
rs786202195
|
|
NM_000051.4(ATM):c.1607+1del
|
|
|
NM_000051.4(ATM):c.1608-1G>A
|
rs1565385010
|
|
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser)
|
rs786203230
|
|
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr)
|
rs876660661
|
|
NM_000051.4(ATM):c.1783_1802+91del
|
rs1555072063
|
|
NM_000051.4(ATM):c.1803-1G>A
|
|
|
NM_000051.4(ATM):c.1803-2A>G
|
rs1057517358
|
|
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)
|
rs786203783
|
|
NM_000051.4(ATM):c.1847_1849del (p.Thr616del)
|
|
|
NM_000051.4(ATM):c.185+1G>A
|
rs112805604
|
|
NM_000051.4(ATM):c.185+1del
|
rs2078826294
|
|
NM_000051.4(ATM):c.186-1G>T
|
|
|
NM_000051.4(ATM):c.186-1del
|
|
|
NM_000051.4(ATM):c.1899-1G>T
|
rs1555073065
|
|
NM_000051.4(ATM):c.1899-20A>C
|
|
|
NM_000051.4(ATM):c.2124+1G>A
|
rs1555073553
|
|
NM_000051.4(ATM):c.2124+1G>T
|
rs1555073553
|
|
NM_000051.4(ATM):c.2125-2A>G
|
|
|
NM_000051.4(ATM):c.2125-910T>G
|
|
|
NM_000051.4(ATM):c.2149C>A (p.Arg717=)
|
rs147515380
|
|
NM_000051.4(ATM):c.2250+2T>C
|
rs1555075037
|
|
NM_000051.4(ATM):c.2251-1G>A
|
rs876659710
|
|
NM_000051.4(ATM):c.2251-1G>C
|
rs876659710
|
|
NM_000051.4(ATM):c.2251-2A>C
|
|
|
NM_000051.4(ATM):c.2251-4A>G
|
rs786202935
|
|
NM_000051.4(ATM):c.2376+1G>C
|
rs730881347
|
|
NM_000051.4(ATM):c.2376+2dup
|
|
|
NM_000051.4(ATM):c.2376G>A (p.Lys792=)
|
rs754267376
|
|
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg)
|
rs775644968
|
|
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg)
|
rs864622412
|
|
NM_000051.4(ATM):c.2466+1G>A
|
rs914092098
|
|
NM_000051.4(ATM):c.2466+5G>A
|
rs1064795969
|
|
NM_000051.4(ATM):c.2466+5G>C
|
rs1064795969
|
|
NM_000051.4(ATM):c.2467-2A>T
|
rs1555082050
|
|
NM_000051.4(ATM):c.2638+1G>T
|
rs2135509713
|
|
NM_000051.4(ATM):c.2638+1del
|
rs1131691153
|
|
NM_000051.4(ATM):c.2638+2T>C
|
rs587779826
|
|
NM_000051.4(ATM):c.2639-7_2639-2del
|
|
|
NM_000051.4(ATM):c.2838+1G>T
|
rs1555083469
|
|
NM_000051.4(ATM):c.2839-2A>G
|
rs1060501703
|
|
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA
|
rs786202148
|
|
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)
|
rs786203054
|
|
NM_000051.4(ATM):c.2922-1G>T
|
rs1555084931
|
|
NM_000051.4(ATM):c.2929T>C (p.Cys977Arg)
|
rs2135551484
|
|
NM_000051.4(ATM):c.3065T>G (p.Ile1022Ser)
|
rs1591604769
|
|
NM_000051.4(ATM):c.3077+1G>A
|
rs192810283
|
|
NM_000051.4(ATM):c.3077+1G>T
|
rs192810283
|
|
NM_000051.4(ATM):c.3078-2A>G
|
|
|
NM_000051.4(ATM):c.3078-5T>C
|
rs1565427457
|
|
NM_000051.4(ATM):c.3092A>T (p.Glu1031Val)
|
rs758708495
|
|
NM_000051.4(ATM):c.3093G>T (p.Glu1031Asp)
|
|
|
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)
|
rs568461905
|
|
NM_000051.4(ATM):c.3154-1G>T
|
rs1555085973
|
|
NM_000051.4(ATM):c.3248A>G (p.His1083Arg)
|
rs2081667850
|
|
NM_000051.4(ATM):c.3284+1G>A
|
rs864622129
|
|
NM_000051.4(ATM):c.3284+1G>C
|
rs864622129
|
|
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys)
|
rs587781815
|
|
NM_000051.4(ATM):c.331+2800A>G
|
|
|
NM_000051.4(ATM):c.331+2_331+7del
|
|
|
NM_000051.4(ATM):c.332-1G>C
|
|
|
NM_000051.4(ATM):c.3402+1G>A
|
rs1565439606
|
|
NM_000051.4(ATM):c.3402+2T>C
|
rs876659430
|
|
NM_000051.4(ATM):c.3402+3A>C
|
rs786203688
|
|
NM_000051.4(ATM):c.3403-1G>A
|
rs1555091120
|
|
NM_000051.4(ATM):c.3576+1G>A
|
rs876660621
|
|
NM_000051.4(ATM):c.3576+1G>T
|
rs876660621
|
|
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn)
|
rs587776551
|
|
NM_000051.4(ATM):c.3576_3576+7del
|
|
|
NM_000051.4(ATM):c.3577-1G>A
|
|
|
NM_000051.4(ATM):c.3577-1G>T
|
|
|
NM_000051.4(ATM):c.3577-201_3604delinsATCAAGAAAAGTTGAATGAATGTT
|
|
|
NM_000051.4(ATM):c.3577-2A>G
|
rs887358871
|
|
NM_000051.4(ATM):c.3677A>G (p.Asp1226Gly)
|
rs1555092445
|
|
NM_000051.4(ATM):c.3746+1G>T
|
rs2082309297
|
|
NM_000051.4(ATM):c.3747-1G>A
|
rs730881364
|
|
NM_000051.4(ATM):c.3747-1G>C
|
rs730881364
|
|
NM_000051.4(ATM):c.3878A>G (p.Asn1293Ser)
|
rs2082382534
|
|
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser)
|
rs864622654
|
|
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)
|
|
|
NM_000051.4(ATM):c.3993+2T>A
|
|
|
NM_000051.4(ATM):c.3993G>C (p.Gln1331His)
|
rs863224566
|
|
NM_000051.4(ATM):c.3994-160T>C
|
rs2082548304
|
|
NM_000051.4(ATM):c.3994-1G>T
|
rs1057516238
|
|
NM_000051.4(ATM):c.4109+1G>A
|
rs879254034
|
|
NM_000051.4(ATM):c.4109+1G>T
|
rs879254034
|
|
NM_000051.4(ATM):c.4109+5G>A
|
rs2082568277
|
|
NM_000051.4(ATM):c.4110-1G>C
|
rs1060501692
|
|
NM_000051.4(ATM):c.4236+1G>T
|
rs876660674
|
|
NM_000051.4(ATM):c.434T>G (p.Leu145Arg)
|
rs1555059346
|
|
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)
|
rs730881391
|
|
NM_000051.4(ATM):c.4435_4436+10del
|
|
|
NM_000051.4(ATM):c.4436+2T>C
|
rs1555097898
|
|
NM_000051.4(ATM):c.4436G>A (p.Arg1479Lys)
|
rs2135767002
|
|
NM_000051.4(ATM):c.4611+1del
|
rs1565461824
|
|
NM_000051.4(ATM):c.4612-3_4616del
|
rs773012957
|
|
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu)
|
rs1034235291
|
|
NM_000051.4(ATM):c.4612_4621del (p.Val1538fs)
|
|
|
NM_000051.4(ATM):c.4888G>A (p.Asp1630Asn)
|
rs1555101921
|
|
NM_000051.4(ATM):c.4889A>G (p.Asp1630Gly)
|
rs1565466579
|
|
NM_000051.4(ATM):c.4905_4909+16del
|
|
|
NM_000051.4(ATM):c.4909+1G>T
|
rs756987454
|
|
NM_000051.4(ATM):c.496+1G>A
|
rs876658500
|
|
NM_000051.4(ATM):c.496+286A>G
|
|
|
NM_000051.4(ATM):c.496+334A>G
|
|
|
NM_000051.4(ATM):c.497-1142dup
|
|
|
NM_000051.4(ATM):c.497-1G>T
|
rs778624615
|
|
NM_000051.4(ATM):c.5177+2T>C
|
|
|
NM_000051.4(ATM):c.5178-1G>A
|
rs1555105579
|
|
NM_000051.4(ATM):c.5178-1G>T
|
rs1555105579
|
|
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu)
|
rs373789346
|
|
NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg)
|
rs1060501571
|
|
NM_000051.4(ATM):c.5309C>T (p.Ser1770Leu)
|
|
|
NM_000051.4(ATM):c.5319+1G>A
|
rs876660175
|
|
NM_000051.4(ATM):c.5319+1G>T
|
rs876660175
|
|
NM_000051.4(ATM):c.5435_5437del (p.Ala1812_Phe1813delinsVal)
|
|
|
NM_000051.4(ATM):c.5496+1G>A
|
rs879254180
|
|
NM_000051.4(ATM):c.5496+2T>G
|
rs1591713093
|
|
NM_000051.4(ATM):c.5496+2_5496+5del
|
rs1565479572
|
|
NM_000051.4(ATM):c.5496+645T>G
|
|
|
NM_000051.4(ATM):c.5497-1G>A
|
rs876660245
|
|
NM_000051.4(ATM):c.5674+1G>T
|
rs1565482453
|
|
NM_000051.4(ATM):c.5675-3C>G
|
rs876658545
|
|
NM_000051.4(ATM):c.5762+1G>A
|
rs869312756
|
|
NM_000051.4(ATM):c.5762G>A (p.Arg1921Lys)
|
|
|
NM_000051.4(ATM):c.5763-18_5772del
|
|
|
NM_000051.4(ATM):c.5763-2A>G
|
rs876659489
|
|
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile)
|
rs587781963
|
|
NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly)
|
rs1555110484
|
|
NM_000051.4(ATM):c.5918+1G>A
|
rs1591746871
|
|
NM_000051.4(ATM):c.5918+1G>T
|
rs1591746871
|
|
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys)
|
rs1555110591
|
|
NM_000051.4(ATM):c.5919-2A>G
|
rs746623393
|
|
NM_000051.4(ATM):c.59C>G (p.Ala20Gly)
|
rs2078809726
|
|
NM_000051.4(ATM):c.6006+1G>A
|
rs786202016
|
|
NM_000051.4(ATM):c.6006+1G>C
|
rs786202016
|
|
NM_000051.4(ATM):c.6006G>A (p.Gln2002=)
|
rs1591759073
|
|
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)
|
rs587781302
|
|
NM_000051.4(ATM):c.6095+2T>C
|
rs1057516525
|
|
NM_000051.4(ATM):c.6095+4A>G
|
rs1555113632
|
|
NM_000051.4(ATM):c.6096-1G>C
|
rs1591778339
|
|
NM_000051.4(ATM):c.6096-2A>G
|
rs1057520704
|
|
NM_000051.4(ATM):c.6096-9_6096-5del
|
rs879254095
|
|
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)
|
rs864622251
|
|
NM_000051.4(ATM):c.6198+3A>G
|
rs786202092
|
|
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser)
|
rs1555114558
|
|
NM_000051.4(ATM):c.6238T>G (p.Tyr2080Asp)
|
rs1064795467
|
|
NM_000051.4(ATM):c.6348-1G>A
|
rs1057517302
|
|
NM_000051.4(ATM):c.6348-1G>C
|
rs1057517302
|
|
NM_000051.4(ATM):c.6348-2A>C
|
|
|
NM_000051.4(ATM):c.6451A>C (p.Arg2151=)
|
|
|
NM_000051.4(ATM):c.6572+1G>A
|
rs587779856
|
|
NM_000051.4(ATM):c.6573-12C>A
|
rs1057521666
|
|
NM_000051.4(ATM):c.6573-1G>A
|
rs1591128291
|
|
NM_000051.4(ATM):c.6573-1G>C
|
rs1591128291
|
|
NM_000051.4(ATM):c.6573-1G>T
|
|
|
NM_000051.4(ATM):c.661A>T (p.Arg221Ter)
|
|
|
NM_000051.4(ATM):c.662+1G>A
|
rs1060501690
|
|
NM_000051.4(ATM):c.663-2A>G
|
rs886041931
|
|
NM_000051.4(ATM):c.663-3_663-2del
|
|
|
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer)
|
rs1591129041
|
|
NM_000051.4(ATM):c.6807+1_6807+7del
|
|
|
NM_000051.4(ATM):c.6890A>C (p.Gln2297Pro)
|
rs1565520560
|
|
NM_000051.4(ATM):c.6975+1G>A
|
rs1565521129
|
|
NM_000051.4(ATM):c.6975+1G>T
|
rs1565521129
|
|
NM_000051.4(ATM):c.6975+2T>C
|
rs879254199
|
|
NM_000051.4(ATM):c.6976-10_6989del
|
rs587779859
|
|
NM_000051.4(ATM):c.6976-11_6976-8delinsATA
|
|
|
NM_000051.4(ATM):c.6976-1G>T
|
rs1591141963
|
|
NM_000051.4(ATM):c.6976-2A>C
|
rs587782403
|
|
NM_000051.4(ATM):c.6976-2A>G
|
rs587782403
|
|
NM_000051.4(ATM):c.7089+1G>A
|
rs777741666
|
|
NM_000051.4(ATM):c.7089+2T>G
|
rs1057516235
|
|
NM_000051.4(ATM):c.7089G>C (p.Lys2363Asn)
|
|
|
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)
|
rs587779861
|
|
NM_000051.4(ATM):c.72+1del
|
|
|
NM_000051.4(ATM):c.7219T>C (p.Ser2407Pro)
|
rs1565526951
|
|
NM_000051.4(ATM):c.73-1G>A
|
rs1555054043
|
|
NM_000051.4(ATM):c.73-3C>G
|
rs1555054039
|
|
NM_000051.4(ATM):c.7307+2_7307+4delinsCC
|
|
|
NM_000051.4(ATM):c.7307+4A>G
|
rs730881316
|
|
NM_000051.4(ATM):c.7308-1G>C
|
rs1555122941
|
|
NM_000051.4(ATM):c.7308-2A>C
|
rs1555122938
|
|
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro)
|
rs1555123032
|
|
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)
|
rs876659365
|
|
NM_000051.4(ATM):c.7515+1G>C
|
|
|
NM_000051.4(ATM):c.7516-1G>A
|
|
|
NM_000051.4(ATM):c.7516-1G>C
|
|
|
NM_000051.4(ATM):c.7516-2A>G
|
|
|
NM_000051.4(ATM):c.7629+1G>A
|
rs1565532703
|
|
NM_000051.4(ATM):c.7629+1G>T
|
|
|
NM_000051.4(ATM):c.7630-12_7630-11del
|
|
|
NM_000051.4(ATM):c.7630-1G>A
|
rs2086285148
|
|
NM_000051.4(ATM):c.7630-2A>G
|
rs587779866
|
|
NM_000051.4(ATM):c.7630-3C>G
|
rs587782448
|
|
NM_000051.4(ATM):c.7788+1G>C
|
rs1565534524
|
|
NM_000051.4(ATM):c.7788+1G>T
|
rs1565534524
|
|
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp)
|
rs587780639
|
|
NM_000051.4(ATM):c.7789-1G>A
|
rs1591177953
|
|
NM_000051.4(ATM):c.7789-29_7789-16del
|
|
|
NM_000051.4(ATM):c.7789-4A>G
|
rs2086401774
|
|
NM_000051.4(ATM):c.7789G>T (p.Asp2597Tyr)
|
rs1555125212
|
|
NM_000051.4(ATM):c.7926A>T (p.Arg2642Ser)
|
|
|
NM_000051.4(ATM):c.7927+1G>A
|
rs1555125532
|
|
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del)
|
rs876660743
|
|
NM_000051.4(ATM):c.8010+1del
|
rs876659350
|
|
NM_000051.4(ATM):c.8010G>C (p.Lys2670Asn)
|
|
|
NM_000051.4(ATM):c.8011-1G>C
|
rs1555127017
|
|
NM_000051.4(ATM):c.8011-21_8015del
|
|
|
NM_000051.4(ATM):c.8096C>T (p.Pro2699Leu)
|
rs879254209
|
|
NM_000051.4(ATM):c.8122G>C (p.Asp2708His)
|
rs587782719
|
|
NM_000051.4(ATM):c.8122G>T (p.Asp2708Tyr)
|
rs587782719
|
|
NM_000051.4(ATM):c.8146G>T (p.Val2716Phe)
|
rs730881385
|
|
NM_000051.4(ATM):c.8148_8151+2del
|
rs1565541335
|
|
NM_000051.4(ATM):c.8151+1G>C
|
rs1591192583
|
|
NM_000051.4(ATM):c.8151G>A (p.Lys2717=)
|
rs1591192550
|
|
NM_000051.4(ATM):c.8152-18T>G
|
rs1591197705
|
|
NM_000051.4(ATM):c.8152-1G>A
|
rs1398616877
|
|
NM_000051.4(ATM):c.8161G>A (p.Asp2721Asn)
|
rs876659066
|
|
NM_000051.4(ATM):c.8248_8268del (p.Leu2750_Lys2756del)
|
rs771146489
|
|
NM_000051.4(ATM):c.8268+1G>A
|
rs876658957
|
|
NM_000051.4(ATM):c.8268+1G>T
|
rs876658957
|
|
NM_000051.4(ATM):c.8268G>A (p.Lys2756=)
|
rs1555128642
|
|
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)
|
rs1555128642
|
|
NM_000051.4(ATM):c.8269-14A>G
|
|
|
NM_000051.4(ATM):c.8269-2A>G
|
|
|
NM_000051.4(ATM):c.8416_8418+5del
|
rs1591249480
|
|
NM_000051.4(ATM):c.8418+2T>C
|
rs1060501713
|
|
NM_000051.4(ATM):c.8418G>A (p.Met2806Ile)
|
rs762744146
|
|
NM_000051.4(ATM):c.8418G>T (p.Met2806Ile)
|
rs762744146
|
|
NM_000051.4(ATM):c.8419-1G>A
|
|
|
NM_000051.4(ATM):c.8419-1G>C
|
rs1555137920
|
|
NM_000051.4(ATM):c.8495G>C (p.Arg2832Pro)
|
rs529296539
|
|
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu)
|
rs529296539
|
|
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg)
|
rs780905851
|
|
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle)
|
rs587781353
|
|
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del)
|
rs786203976
|
|
NM_000051.4(ATM):c.8584+16A>G
|
rs1322889530
|
|
NM_000051.4(ATM):c.8584+1G>A
|
rs876658182
|
|
NM_000051.4(ATM):c.8585-1G>A
|
rs876660066
|
|
NM_000051.4(ATM):c.8585-2A>G
|
rs1060501700
|
|
NM_000051.4(ATM):c.8671+1G>A
|
|
|
NM_000051.4(ATM):c.8671+2T>G
|
rs1057516229
|
|
NM_000051.4(ATM):c.8672-1G>A
|
rs876660088
|
|
NM_000051.4(ATM):c.8672-1G>T
|
rs876660088
|
|
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly)
|
rs786202826
|
|
NM_000051.4(ATM):c.8732_8752del (p.Thr2911_Gly2917del)
|
|
|
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr)
|
rs756899044
|
|
NM_000051.4(ATM):c.8786_8786+3del
|
rs1060501569
|
|
NM_000051.4(ATM):c.8842_8850+3824del
|
|
|
NM_000051.4(ATM):c.8850+1G>A
|
rs1555143620
|
|
NM_000051.4(ATM):c.8850+1G>T
|
|
|
NM_000051.4(ATM):c.8850+2T>C
|
rs1555143623
|
|
NM_000051.4(ATM):c.8851-2A>G
|
rs886039647
|
|
NM_000051.4(ATM):c.8851-2A>T
|
|
|
NM_000051.4(ATM):c.8947_8951dup (p.Asn2985fs)
|
rs2091211325
|
|
NM_000051.4(ATM):c.902-1G>A
|
rs1064793518
|
|
NM_000051.4(ATM):c.9022C>A (p.Arg3008Ser)
|
rs587782292
|
|
NM_000051.4(ATM):c.9039dup (p.Gln3014fs)
|
rs879253972
|
|
NM_000051.4(ATM):c.9054del (p.Gly3019fs)
|
|
|
NM_000051.4(ATM):c.9071del (p.Thr3024fs)
|
|
|
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter)
|
rs1591387978
|
|
NM_000051.4(ATM):c.9170G>C (p.Ter3057Ser)
|
rs2091262802
|
|
NM_000057.2(BLM):c.-4-4929_82del
|
|
|
NM_000057.2:c.741_742insALU
|
|
|
NM_000057.4(BLM):c.2193+1G>A
|
rs865866188
|
|
NM_000057.4(BLM):c.2193+1G>T
|
rs865866188
|
|
NM_000057.4(BLM):c.2193+1_2193+9del
|
rs1060500652
|
|
NM_000057.4(BLM):c.2308-2A>G
|
rs1248548542
|
|
NM_000057.4(BLM):c.2555+1G>A
|
|
|
NM_000057.4(BLM):c.2555+1G>C
|
|
|
NM_000057.4(BLM):c.2556-2A>G
|
rs1596250255
|
|
NM_000057.4(BLM):c.2556G>T (p.Val852=)
|
rs1896650229
|
|
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)
|
rs758311406
|
|
NM_000057.4(BLM):c.2T>C (p.Met1Thr)
|
rs1057516593
|
|
NM_000057.4(BLM):c.3163T>G (p.Cys1055Gly)
|
|
|
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)
|
rs367543029
|
|
NM_000057.4(BLM):c.799+1G>T
|
rs1895641581
|
|
NM_000057.4(BLM):c.83C>G (p.Ser28Ter)
|
rs2151145090
|
|
NM_000057.4(BLM):c.98+1G>A
|
rs750293380
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
NM_000057.4(BLM):c.99-1G>A
|
|
|
NM_000057.4(BLM):c.99-8_112del
|
rs2151146678
|
|
NM_000059.3:c.2829_2830insALU
|
|
|
NM_000059.3:c.3390_3391insALU
|
|
|
NM_000059.3:c.3834_3835insALU
|
|
|
NM_000059.3:c.4993_4994insALU
|
|
|
NM_000059.3:c.5990_5991insL1
|
|
|
NM_000059.3:c.7649_7650insALU
|
|
|
NM_000059.3:c.8814_8815insALU
|
|
|
NM_000059.3:c.8933_8934insALU
|
|
|
NM_000059.3:c.9327_9328insALU
|
|
|
NM_000059.3:c.9451_9452insALU
|
|
|
NM_000059.4(BRCA2):c.-39-1_-39del
|
rs758732038
|
|
NM_000059.4(BRCA2):c.-39-2A>G
|
rs1555280053
|
|
NM_000059.4(BRCA2):c.-40+1G>A
|
rs2072249096
|
|
NM_000059.4(BRCA2):c.-40+2T>C
|
rs1593879845
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
NM_000059.4(BRCA2):c.1909+2T>A
|
rs876658577
|
|
NM_000059.4(BRCA2):c.1910-1_1914del
|
rs1593895760
|
|
NM_000059.4(BRCA2):c.316+1G>T
|
rs397507303
|
|
NM_000059.4(BRCA2):c.316+1del
|
|
|
NM_000059.4(BRCA2):c.426-2A>G
|
rs398122779
|
|
NM_000059.4(BRCA2):c.475+2T>C
|
rs1555280966
|
|
NM_000059.4(BRCA2):c.475+4del
|
rs276174848
|
|
NM_000059.4(BRCA2):c.476-1G>A
|
rs397507340
|
|
NM_000059.4(BRCA2):c.516+1G>T
|
rs397507762
|
|
NM_000059.4(BRCA2):c.516+4A>G
|
rs2137450725
|
|
NM_000059.4(BRCA2):c.516G>A (p.Lys172=)
|
rs80359790
|
|
NM_000059.4(BRCA2):c.516G>T (p.Lys172Asn)
|
rs80359790
|
|
NM_000059.4(BRCA2):c.517-1G>C
|
|
|
NM_000059.4(BRCA2):c.517-2A>G
|
rs81002858
|
|
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg)
|
rs397507768
|
|
NM_000059.4(BRCA2):c.517G>T (p.Gly173Cys)
|
rs397507768
|
|
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)
|
rs397507359
|
|
NM_000059.4(BRCA2):c.631+1G>C
|
rs81002897
|
|
NM_000059.4(BRCA2):c.631+3A>G
|
rs397507840
|
|
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)
|
rs80358871
|
|
NM_000059.4(BRCA2):c.632-1G>A
|
rs81002820
|
|
NM_000059.4(BRCA2):c.67+2T>G
|
rs81002885
|
|
NM_000059.4(BRCA2):c.67+3A>C
|
|
|
NM_000059.4(BRCA2):c.67+3A>G
|
rs1593880835
|
|
NM_000059.4(BRCA2):c.681+2dup
|
rs587781486
|
|
NM_000059.4(BRCA2):c.681+4A>G
|
rs397507884
|
|
NM_000059.4(BRCA2):c.682-1G>C
|
rs81002831
|
|
NM_000059.4(BRCA2):c.682-3C>G
|
|
|
NM_000059.4(BRCA2):c.6841+2T>G
|
rs1593909960
|
|
NM_000059.4(BRCA2):c.6938-1G>A
|
rs886040936
|
|
NM_000059.4(BRCA2):c.6938-2A>G
|
rs81002863
|
|
NM_000059.4(BRCA2):c.7007+5G>A
|
rs81002816
|
|
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7008-1G>A
|
rs786204280
|
|
NM_000059.4(BRCA2):c.7435+2T>C
|
rs1434072252
|
|
NM_000059.4(BRCA2):c.7436-1G>A
|
|
|
NM_000059.4(BRCA2):c.7436-2_7437del
|
rs876659229
|
|
NM_000059.4(BRCA2):c.7510_7617+184del
|
|
|
NM_000059.4(BRCA2):c.7618-10T>G
|
rs864622573
|
|
NM_000059.4(BRCA2):c.7618-187G>T
|
|
|
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys)
|
rs587782715
|
|
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)
|
rs398122591
|
|
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del)
|
rs80359682
|
|
NM_000059.4(BRCA2):c.7795G>A (p.Glu2599Lys)
|
rs41293509
|
|
NM_000059.4(BRCA2):c.7796A>G (p.Glu2599Gly)
|
rs780715340
|
|
NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys)
|
rs786202344
|
|
NM_000059.4(BRCA2):c.7804_7805+9del
|
|
|
NM_000059.4(BRCA2):c.7806-1G>C
|
rs81002860
|
|
NM_000059.4(BRCA2):c.7806-2A>C
|
rs81002836
|
|
NM_000059.4(BRCA2):c.7819A>C (p.Thr2607Pro)
|
rs80359008
|
|
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp)
|
rs80359009
|
|
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val)
|
rs80359009
|
|
NM_000059.4(BRCA2):c.7855T>C (p.Trp2619Arg)
|
rs1593923998
|
|
NM_000059.4(BRCA2):c.7867C>T (p.His2623Tyr)
|
rs1566244783
|
|
NM_000059.4(BRCA2):c.7874G>T (p.Arg2625Ile)
|
rs864622552
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
NM_000059.4(BRCA2):c.7880T>A (p.Ile2627Asn)
|
rs876658736
|
|
NM_000059.4(BRCA2):c.793+1G>C
|
rs81002846
|
|
NM_000059.4(BRCA2):c.793+1G>T
|
rs81002846
|
|
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)
|
rs80359022
|
|
NM_000059.4(BRCA2):c.7967T>A (p.Leu2656Gln)
|
rs886037817
|
|
NM_000059.4(BRCA2):c.7976+5G>T
|
rs786201180
|
|
NM_000059.4(BRCA2):c.7977-1G>A
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7977-1G>T
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7977-4_7977-3del
|
rs876659992
|
|
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp)
|
rs80359029
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8059G>T (p.Val2687Phe)
|
rs80359044
|
|
NM_000059.4(BRCA2):c.8059_8064del (p.Val2687_Leu2688del)
|
rs1593924996
|
|
NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His)
|
rs80359061
|
|
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile)
|
rs80359062
|
|
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn)
|
rs41293511
|
|
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu)
|
rs1060502432
|
|
NM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val)
|
rs80359063
|
|
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del)
|
rs80359698
|
|
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser)
|
rs56371528
|
|
NM_000059.4(BRCA2):c.8243G>T (p.Gly2748Val)
|
rs80359071
|
|
NM_000059.4(BRCA2):c.8252T>G (p.Ile2751Ser)
|
rs1555287065
|
|
NM_000059.4(BRCA2):c.8331+1G>A
|
rs81002837
|
|
NM_000059.4(BRCA2):c.8331+1G>T
|
rs81002837
|
|
NM_000059.4(BRCA2):c.8331+2T>C
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8331+2T>G
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8332-2A>G
|
rs587782774
|
|
NM_000059.4(BRCA2):c.8332-3384A>T
|
|
|
NM_000059.4(BRCA2):c.8332-3C>G
|
rs587782093
|
|
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile)
|
rs1434821822
|
|
NM_000059.4(BRCA2):c.8351G>T (p.Arg2784Leu)
|
rs80359076
|
|
NM_000059.4(BRCA2):c.8362T>C (p.Trp2788Arg)
|
rs80359079
|
|
NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser)
|
rs80359080
|
|
NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro)
|
rs28897751
|
|
NM_000059.4(BRCA2):c.8375T>G (p.Leu2792Arg)
|
rs28897751
|
|
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu)
|
rs80359083
|
|
NM_000059.4(BRCA2):c.8384_8395del (p.Phe2795_Arg2799delinsTer)
|
rs587781689
|
|
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)
|
rs80359100
|
|
NM_000059.4(BRCA2):c.8486_8487+7delinsCCTATG
|
|
|
NM_000059.4(BRCA2):c.8488-1G>T
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8488-1_8496delinsCT
|
rs1555287731
|
|
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys)
|
rs398122710
|
|
NM_000059.4(BRCA2):c.8633-1G>A
|
rs398122711
|
|
NM_000059.4(BRCA2):c.8633-24_8634del
|
rs886040945
|
|
NM_000059.4(BRCA2):c.8633-27_8633-9del
|
|
|
NM_000059.4(BRCA2):c.8633-2A>G
|
rs81002886
|
|
NM_000059.4(BRCA2):c.8633-33_8726delinsCAGACCCAGCTT
|
|
|
NM_000059.4(BRCA2):c.8754+1G>T
|
rs397508006
|
|
NM_000059.4(BRCA2):c.8754+1del
|
rs1593935041
|
|
NM_000059.4(BRCA2):c.8754+3G>C
|
rs397508007
|
|
NM_000059.4(BRCA2):c.8754+4A>T
|
rs81002893
|
|
NM_000059.4(BRCA2):c.8754+5G>A
|
rs81002813
|
|
NM_000059.4(BRCA2):c.8754+5G>C
|
rs81002813
|
|
NM_000059.4(BRCA2):c.8755-1G>C
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8755-2A>G
|
rs1566252482
|
|
NM_000059.4(BRCA2):c.8755-3_8755-2delinsGG
|
|
|
NM_000059.4(BRCA2):c.8755-6_8755-2del
|
|
|
NM_000059.4(BRCA2):c.8755-9T>A
|
rs397507413
|
|
NM_000059.4(BRCA2):c.8953+1G>A
|
rs81002882
|
|
NM_000059.4(BRCA2):c.8953+1del
|
rs730881617
|
|
NM_000059.4(BRCA2):c.8954-2_8959del
|
rs1566252995
|
|
NM_000059.4(BRCA2):c.8954-3C>G
|
rs81002844
|
|
NM_000059.4(BRCA2):c.8954-5A>G
|
rs886040949
|
|
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del)
|
rs80359736
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000059.4(BRCA2):c.9005A>G (p.Glu3002Gly)
|
rs1555288459
|
|
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp)
|
rs397507416
|
|
NM_000059.4(BRCA2):c.9052A>G (p.Ser3018Gly)
|
rs431825373
|
|
NM_000059.4(BRCA2):c.9116_9117+4del
|
|
|
NM_000059.4(BRCA2):c.9117+1del
|
rs869320801
|
|
NM_000059.4(BRCA2):c.9117+3A>G
|
rs1555288517
|
|
NM_000059.4(BRCA2):c.9118-2A>T
|
rs81002862
|
|
NM_000059.4(BRCA2):c.9155G>T (p.Arg3052Leu)
|
rs80359171
|
|
NM_000059.4(BRCA2):c.9217G>T (p.Asp3073Tyr)
|
rs876658262
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
NM_000059.4(BRCA2):c.9254_9256+11del
|
rs1555288584
|
|
NM_000059.4(BRCA2):c.9256+1G>C
|
rs81002883
|
|
NM_000059.4(BRCA2):c.9256+2T>A
|
|
|
NM_000059.4(BRCA2):c.9257-1G>A
|
rs81002889
|
|
NM_000059.4(BRCA2):c.9257-1G>T
|
|
|
NM_000059.4(BRCA2):c.9257-2A>G
|
rs886040954
|
|
NM_000059.4(BRCA2):c.9364G>C (p.Ala3122Pro)
|
rs587782313
|
|
NM_000059.4(BRCA2):c.9373C>T (p.Leu3125Phe)
|
rs1555289566
|
|
NM_000059.4(BRCA2):c.9501+1G>A
|
rs397508058
|
|
NM_000059.4(BRCA2):c.9501+1G>T
|
rs397508058
|
|
NM_000059.4(BRCA2):c.9502-1G>A
|
|
|
NM_000059.4(BRCA2):c.9502-2A>C
|
rs81002868
|
|
NM_000059.4(BRCA2):c.9502-8_9502-3delinsAA
|
|
|
NM_000059.4(BRCA2):c.9502-8_9504dup
|
|
|
NM_000059.4(BRCA2):c.9649-12T>G
|
|
|
NM_000059.4(BRCA2):c.9649-1G>C
|
rs1555289898
|
|
NM_000059.4(BRCA2):c.9895C>T (p.Gln3299Ter)
|
rs1555289997
|
|
NM_000077.5(CDKN2A):c.-21C>T
|
rs762129503
|
|
NM_000077.5(CDKN2A):c.113C>G (p.Pro38Arg)
|
|
|
NM_000077.5(CDKN2A):c.143C>G (p.Pro48Arg)
|
rs763804037
|
|
NM_000077.5(CDKN2A):c.143C>T (p.Pro48Leu)
|
|
|
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser)
|
rs199907548
|
|
NM_000077.5(CDKN2A):c.149A>C (p.Gln50Pro)
|
rs587778189
|
|
NM_000077.5(CDKN2A):c.150+2T>G
|
|
|
NM_000077.5(CDKN2A):c.151-1G>T
|
rs730881677
|
|
NM_000077.5(CDKN2A):c.151-2A>G
|
rs1554654224
|
|
NM_000077.5(CDKN2A):c.154ATG[2] (p.Met54del)
|
rs2131096613
|
|
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile)
|
rs104894095
|
|
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)
|
rs104894099
|
|
NM_000077.5(CDKN2A):c.179C>A (p.Ala60Glu)
|
rs36204594
|
|
NM_000077.5(CDKN2A):c.183GCT[5] (p.Leu65dup)
|
rs2131096063
|
|
NM_000077.5(CDKN2A):c.199G>C (p.Gly67Arg)
|
rs758389471
|
|
NM_000077.5(CDKN2A):c.202G>C (p.Ala68Pro)
|
rs1819719137
|
|
NM_000077.5(CDKN2A):c.202_203delinsTT (p.Ala68Leu)
|
rs876658534
|
|
NM_000077.5(CDKN2A):c.203C>T (p.Ala68Val)
|
rs1060501260
|
|
NM_000077.5(CDKN2A):c.212A>G (p.Asn71Ser)
|
rs559848002
|
|
NM_000077.5(CDKN2A):c.213C>A (p.Asn71Lys)
|
|
|
NM_000077.5(CDKN2A):c.250G>A (p.Asp84Asn)
|
rs11552822
|
|
NM_000077.5(CDKN2A):c.251A>C (p.Asp84Ala)
|
rs587782792
|
|
NM_000077.5(CDKN2A):c.260G>C (p.Arg87Pro)
|
rs878853647
|
|
NM_000077.5(CDKN2A):c.266G>A (p.Gly89Asp)
|
rs137854599
|
|
NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro)
|
rs754806883
|
|
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn)
|
rs121913381
|
|
NM_000077.5(CDKN2A):c.322G>T (p.Asp108Tyr)
|
rs121913381
|
|
NM_000077.5(CDKN2A):c.334C>G (p.Arg112Gly)
|
rs876660436
|
|
NM_000077.5(CDKN2A):c.340_355del (p.Pro114fs)
|
rs1554653956
|
|
NM_000077.5(CDKN2A):c.341C>G (p.Pro114Arg)
|
|
|
NM_000077.5(CDKN2A):c.353C>T (p.Ala118Val)
|
rs1060501270
|
|
NM_000077.5(CDKN2A):c.379G>C (p.Ala127Pro)
|
rs6413464
|
|
NM_000077.5(CDKN2A):c.457+1_457+10del
|
rs1587330284
|
|
NM_000077.5(CDKN2A):c.47T>C (p.Leu16Pro)
|
rs864622263
|
|
NM_000077.5(CDKN2A):c.52_57dup (p.Thr18_Ala19dup)
|
rs1563892769
|
|
NM_000077.5(CDKN2A):c.58G>C (p.Ala20Pro)
|
rs760065045
|
|
NM_000077.5(CDKN2A):c.67G>A (p.Gly23Ser)
|
rs1131691186
|
|
NM_000077.5(CDKN2A):c.67G>C (p.Gly23Arg)
|
rs1131691186
|
|
NM_000077.5(CDKN2A):c.67G>T (p.Gly23Cys)
|
rs1131691186
|
|
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp)
|
rs1064794292
|
|
NM_000077.5(CDKN2A):c.95T>C (p.Leu32Pro)
|
rs878853650
|
|
NM_000136.3(FANCC):c.1534-1G>T
|
rs1364238660
|
|
NM_000136.3(FANCC):c.251-2A>C
|
rs1057517219
|
|
NM_000136.3(FANCC):c.346-1G>A
|
rs1484503633
|
|
NM_000136.3(FANCC):c.521+1G>T
|
|
|
NM_000136.3(FANCC):c.686+1G>C
|
rs1057517125
|
|
NM_000136.3(FANCC):c.687-1G>A
|
rs1588134748
|
|
NM_000136.3(FANCC):c.996+1G>A
|
rs370510954
|
|
NM_000136.3(FANCC):c.996+1_996+2insGA
|
rs1825770738
|
|
NM_000136.3(FANCC):c.997-1G>A
|
rs1588070986
|
|
NM_000143.4(FH):c.1000A>C (p.Ser334Arg)
|
rs587782216
|
|
NM_000143.4(FH):c.1007T>G (p.Met336Arg)
|
rs863223972
|
|
NM_000143.4(FH):c.1016C>A (p.Ala339Glu)
|
rs1659852423
|
|
NM_000143.4(FH):c.1084G>A (p.Glu362Lys)
|
rs121913119
|
|
NM_000143.4(FH):c.1084G>C (p.Glu362Gln)
|
rs121913119
|
|
NM_000143.4(FH):c.1094G>A (p.Ser365Asn)
|
rs1131691238
|
|
NM_000143.4(FH):c.1108+2T>A
|
|
|
NM_000143.4(FH):c.1112A>G (p.Lys371Arg)
|
rs863224005
|
|
NM_000143.4(FH):c.1120C>A (p.Pro374Thr)
|
rs876660446
|
|
NM_000143.4(FH):c.1129T>C (p.Cys377Arg)
|
rs398123161
|
|
NM_000143.4(FH):c.1153_1155dup (p.Ala385_Gln386insAla)
|
|
|
NM_000143.4(FH):c.1157A>G (p.Gln386Arg)
|
rs750447792
|
|
NM_000143.4(FH):c.1165G>A (p.Gly389Arg)
|
|
|
NM_000143.4(FH):c.1192G>A (p.Gly398Ser)
|
|
|
NM_000143.4(FH):c.1202G>A (p.Gly401Glu)
|
rs1573879289
|
|
NM_000143.4(FH):c.1205A>G (p.His402Arg)
|
rs886039366
|
|
NM_000143.4(FH):c.1236+2T>C
|
|
|
NM_000143.4(FH):c.1237-1G>T
|
rs1573878149
|
|
NM_000143.4(FH):c.1256C>T (p.Ser419Leu)
|
rs1131691244
|
|
NM_000143.4(FH):c.1268T>G (p.Leu423Arg)
|
rs863224009
|
|
NM_000143.4(FH):c.1283_1294del (p.Val428_Thr431del)
|
|
|
NM_000143.4(FH):c.132+5G>A
|
rs1060499627
|
|
NM_000143.4(FH):c.1390+1G>T
|
rs886039367
|
|
NM_000143.4(FH):c.1390+2T>C
|
rs1558396285
|
|
NM_000143.4(FH):c.1391G>T (p.Gly464Val)
|
rs1131691250
|
|
NM_000143.4(FH):c.1519_1521del (p.Leu507del)
|
|
|
NM_000143.4(FH):c.1520T>C (p.Leu507Pro)
|
rs1425094515
|
|
NM_000143.4(FH):c.152G>A (p.Arg51Gln)
|
rs976734433
|
|
NM_000143.4(FH):c.214A>C (p.Thr72Pro)
|
rs886039362
|
|
NM_000143.4(FH):c.275TTA[1] (p.Ile93del)
|
rs1573886490
|
|
NM_000143.4(FH):c.284C>A (p.Ala95Asp)
|
|
|
NM_000143.4(FH):c.349G>C (p.Ala117Pro)
|
rs886039363
|
|
NM_000143.4(FH):c.378+2T>C
|
rs1131691241
|
|
NM_000143.4(FH):c.378G>C (p.Glu126Asp)
|
rs1573886367
|
|
NM_000143.4(FH):c.379-1G>C
|
rs1553341623
|
|
NM_000143.4(FH):c.404A>G (p.His135Arg)
|
rs786202833
|
|
NM_000143.4(FH):c.431G>T (p.Gly144Val)
|
rs1057521425
|
|
NM_000143.4(FH):c.437G>A (p.Gly146Glu)
|
rs11545654
|
|
NM_000143.4(FH):c.439A>G (p.Thr147Ala)
|
rs863223983
|
|
NM_000143.4(FH):c.450T>A (p.Asn150Lys)
|
rs1131691242
|
|
NM_000143.4(FH):c.470T>G (p.Ile157Ser)
|
rs2147921876
|
|
NM_000143.4(FH):c.478A>G (p.Arg160Gly)
|
rs878853694
|
|
NM_000143.4(FH):c.482C>A (p.Ala161Glu)
|
|
|
NM_000143.4(FH):c.524T>G (p.Val175Gly)
|
|
|
NM_000143.4(FH):c.555+5G>A
|
|
|
NM_000143.4(FH):c.556-2A>T
|
rs750273092
|
|
NM_000143.4(FH):c.557G>A (p.Ser186Asn)
|
rs587782618
|
|
NM_000143.4(FH):c.560C>T (p.Ser187Leu)
|
rs398123166
|
|
NM_000143.4(FH):c.562A>G (p.Asn188Asp)
|
|
|
NM_000143.4(FH):c.566A>T (p.Asp189Val)
|
rs1064793125
|
|
NM_000143.4(FH):c.575C>T (p.Pro192Leu)
|
rs1573883342
|
|
NM_000143.4(FH):c.584T>C (p.Met195Thr)
|
rs863223965
|
|
NM_000143.4(FH):c.591TGC[2] (p.Ala200del)
|
rs786202907
|
|
NM_000143.4(FH):c.653T>G (p.Leu218Arg)
|
rs1553341345
|
|
NM_000143.4(FH):c.738+1G>A
|
rs1659988368
|
|
NM_000143.4(FH):c.738+2T>C
|
rs1060500901
|
|
NM_000143.4(FH):c.738G>C (p.Gln246His)
|
rs2147919372
|
|
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup)
|
rs863223984
|
|
NM_000143.4(FH):c.816_836del (p.Ala273_Val279del)
|
rs863223985
|
|
NM_000143.4(FH):c.827G>A (p.Gly276Asp)
|
rs2147917609
|
|
NM_000143.4(FH):c.827G>T (p.Gly276Val)
|
|
|
NM_000143.4(FH):c.839G>A (p.Gly280Asp)
|
rs863223969
|
|
NM_000143.4(FH):c.842C>G (p.Thr281Arg)
|
|
|
NM_000143.4(FH):c.905-1G>C
|
rs797044973
|
|
NM_000143.4(FH):c.934T>C (p.Phe312Leu)
|
rs863224000
|
|
NM_000143.4(FH):c.950C>T (p.Ala317Val)
|
rs2147916281
|
|
NM_000143.4(FH):c.955G>T (p.Asp319Tyr)
|
|
|
NM_000143.4(FH):c.956A>T (p.Asp319Val)
|
|
|
NM_000143.4(FH):c.965T>A (p.Val322Asp)
|
|
|
NM_000143.4(FH):c.965T>G (p.Val322Gly)
|
rs863224003
|
|
NM_000143.4(FH):c.977G>A (p.Gly326Glu)
|
rs1553341037
|
|
NM_000143.4(FH):c.988A>C (p.Thr330Pro)
|
rs776313200
|
|
NM_000143.4(FH):c.998G>A (p.Cys333Tyr)
|
rs1553341032
|
|
NM_000179.2(MSH6):c.-127_196dup323
|
|
|
NM_000179.2:c.1826_1827insALU
|
|
|
NM_000179.2:c.3311_3312insSVA
|
|
|
NM_000179.2:c.3510_3511insALU
|
|
|
NM_000179.3(MSH6):c.1100A>G (p.His367Arg)
|
rs1553412495
|
|
NM_000179.3(MSH6):c.1147AGG[2] (p.Arg385del)
|
rs267608043
|
|
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)
|
rs750528093
|
|
NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu)
|
rs863224614
|
|
NM_000179.3(MSH6):c.1450G>A (p.Glu484Lys)
|
rs587782706
|
|
NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg)
|
rs587779778
|
|
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)
|
rs587779220
|
|
NM_000179.3(MSH6):c.2054G>A (p.Gly685Asp)
|
|
|
NM_000179.3(MSH6):c.2295C>G (p.Cys765Trp)
|
rs63750985
|
|
NM_000179.3(MSH6):c.2333T>C (p.Leu778Pro)
|
|
|
NM_000179.3(MSH6):c.2341C>T (p.Pro781Ser)
|
rs587779235
|
|
NM_000179.3(MSH6):c.2375T>C (p.Leu792Pro)
|
rs587779236
|
|
NM_000179.3(MSH6):c.2392_2394del (p.Leu798del)
|
|
|
NM_000179.3(MSH6):c.2393T>C (p.Leu798Pro)
|
|
|
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter)
|
rs746306598
|
|
NM_000179.3(MSH6):c.2559G>C (p.Lys853Asn)
|
rs765873566
|
|
NM_000179.3(MSH6):c.2559G>T (p.Lys853Asn)
|
|
|
NM_000179.3(MSH6):c.2591G>A (p.Gly864Glu)
|
rs587781306
|
|
NM_000179.3(MSH6):c.260+1G>C
|
rs1553408467
|
|
NM_000179.3(MSH6):c.260+2T>G
|
|
|
NM_000179.3(MSH6):c.260+2_260+3delinsAG
|
rs1064794075
|
|
NM_000179.3(MSH6):c.260G>C (p.Ser87Thr)
|
rs1114167734
|
|
NM_000179.3(MSH6):c.261-2del
|
|
|
NM_000179.3(MSH6):c.2873A>G (p.Gln958Arg)
|
rs876660185
|
|
NM_000179.3(MSH6):c.2874_2885del (p.Gln958_Ile962delinsHis)
|
rs1572729044
|
|
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys)
|
rs63749919
|
|
NM_000179.3(MSH6):c.2927G>A (p.Arg976His)
|
rs63751113
|
|
NM_000179.3(MSH6):c.3023C>T (p.Thr1008Ile)
|
rs1558667779
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
NM_000179.3(MSH6):c.3172+1G>C
|
rs587779255
|
|
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His)
|
rs863225404
|
|
NM_000179.3(MSH6):c.3172G>T (p.Asp1058Tyr)
|
|
|
NM_000179.3(MSH6):c.3173-10_3173-6del
|
rs781520783
|
|
NM_000179.3(MSH6):c.3173-1G>A
|
rs397515875
|
|
NM_000179.3(MSH6):c.3173-1_3173del
|
rs587779256
|
|
NM_000179.3(MSH6):c.3173-1del
|
|
|
NM_000179.3(MSH6):c.3173-2A>C
|
rs1553331242
|
|
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)
|
rs1060502901
|
|
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly)
|
rs63750617
|
|
NM_000179.3(MSH6):c.3356_3358delinsGAT (p.Glu1119_Glu1120delinsGlyTer)
|
rs1114167695
|
|
NM_000179.3(MSH6):c.3400G>C (p.Gly1134Arg)
|
rs1114167697
|
|
NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser)
|
rs63751063
|
|
NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp)
|
rs1316409501
|
|
NM_000179.3(MSH6):c.3416G>T (p.Gly1139Val)
|
rs1316409501
|
|
NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg)
|
rs864622607
|
|
NM_000179.3(MSH6):c.3438+2T>C
|
rs1033749344
|
|
NM_000179.3(MSH6):c.3438G>C (p.Gln1146His)
|
rs1114167759
|
|
NM_000179.3(MSH6):c.3438G>T (p.Gln1146His)
|
|
|
NM_000179.3(MSH6):c.3452C>A (p.Ala1151Asp)
|
rs587782625
|
|
NM_000179.3(MSH6):c.3461C>A (p.Ala1154Asp)
|
rs786202842
|
|
NM_000179.3(MSH6):c.3464A>G (p.Gln1155Arg)
|
rs1572738445
|
|
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser)
|
rs587779264
|
|
NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del)
|
rs63751427
|
|
NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp)
|
rs587779935
|
|
NM_000179.3(MSH6):c.3556+2T>C
|
rs1669882321
|
|
NM_000179.3(MSH6):c.3556+3_3556+13del
|
rs587779269
|
|
NM_000179.3(MSH6):c.3556+3_3556+6del
|
|
|
NM_000179.3(MSH6):c.3556+4_3556+8del
|
rs1572739119
|
|
NM_000179.3(MSH6):c.3557-1G>A
|
|
|
NM_000179.3(MSH6):c.3557-1G>T
|
rs1114167723
|
|
NM_000179.3(MSH6):c.3557-2A>C
|
|
|
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)
|
rs63751328
|
|
NM_000179.3(MSH6):c.3632T>G (p.Leu1211Arg)
|
|
|
NM_000179.3(MSH6):c.3646+1G>T
|
rs1553332772
|
|
NM_000179.3(MSH6):c.3646+1del
|
|
|
NM_000179.3(MSH6):c.3646+2T>C
|
rs1553332776
|
|
NM_000179.3(MSH6):c.3646+2T>G
|
|
|
NM_000179.3(MSH6):c.3646G>A (p.Gly1216Arg)
|
rs1114167690
|
|
NM_000179.3(MSH6):c.3647-2A>C
|
rs267608111
|
|
NM_000179.3(MSH6):c.3656C>T (p.Thr1219Ile)
|
rs63750949
|
|
NM_000179.3(MSH6):c.3683_3691del (p.Ala1228_Ala1230del)
|
rs2104538620
|
|
NM_000179.3(MSH6):c.3691GTT[1] (p.Val1232del)
|
rs587779284
|
|
NM_000179.3(MSH6):c.36dup (p.Lys13fs)
|
rs2103932294
|
|
NM_000179.3(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup)
|
rs63750523
|
|
NM_000179.3(MSH6):c.3706G>C (p.Ala1236Pro)
|
rs1553333039
|
|
NM_000179.3(MSH6):c.3722G>A (p.Cys1241Tyr)
|
rs1021631442
|
|
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del)
|
rs876658650
|
|
NM_000179.3(MSH6):c.3791_3801+25del
|
|
|
NM_000179.3(MSH6):c.3801+1G>A
|
|
|
NM_000179.3(MSH6):c.3801+1del
|
rs1553333185
|
|
NM_000179.3(MSH6):c.3801+2T>C
|
rs1558392617
|
|
NM_000179.3(MSH6):c.3802-7_3802-4del
|
rs876661171
|
|
NM_000179.3(MSH6):c.3851_3871del (p.Thr1284_Ile1290del)
|
rs1572746651
|
|
NM_000179.3(MSH6):c.3889_3891delinsGG (p.Ser1297fs)
|
|
|
NM_000179.3(MSH6):c.3916_3920dup (p.Asn1307fs)
|
rs1670120965
|
|
NM_000179.3(MSH6):c.3920_3927dup (p.Glu1310fs)
|
rs587779295
|
|
NM_000179.3(MSH6):c.3927_3938dup (p.Glu1310_Ile1313dup)
|
rs1670125444
|
|
NM_000179.3(MSH6):c.3929_3938del (p.Glu1310fs)
|
|
|
NM_000179.3(MSH6):c.3939dup (p.Gln1314fs)
|
rs1553333633
|
|
NM_000179.3(MSH6):c.3946G>C (p.Gly1316Arg)
|
rs773675555
|
|
NM_000179.3(MSH6):c.3947G>A (p.Gly1316Glu)
|
rs876661174
|
|
NM_000179.3(MSH6):c.3948_3953delinsCC (p.His1317fs)
|
|
|
NM_000179.3(MSH6):c.3956_3974del (p.Lys1319fs)
|
rs1558394336
|
|
NM_000179.3(MSH6):c.3957_3958dup (p.Ala1320fs)
|
|
|
NM_000179.3(MSH6):c.3957dup (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.4000_4001+20del
|
|
|
NM_000179.3(MSH6):c.4001+1G>C
|
rs1114167729
|
|
NM_000179.3(MSH6):c.4001+1G>T
|
|
|
NM_000179.3(MSH6):c.4001+1_4001+25del
|
|
|
NM_000179.3(MSH6):c.4001+2T>A
|
rs267608131
|
|
NM_000179.3(MSH6):c.4002-1G>A
|
rs1302369946
|
|
NM_000179.3(MSH6):c.4004_4007dup (p.Cys1337fs)
|
rs876658497
|
|
NM_000179.3(MSH6):c.4005_4008dup (p.Cys1337fs)
|
rs1670208407
|
|
NM_000179.3(MSH6):c.457+1G>T
|
rs2104112957
|
|
NM_000179.3(MSH6):c.457+2dup
|
rs876661224
|
|
NM_000179.3(MSH6):c.457G>C (p.Gly153Arg)
|
rs1060502885
|
|
NM_000179.3(MSH6):c.457G>T (p.Gly153Cys)
|
rs1060502885
|
|
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys)
|
rs121913246
|
|
NM_000245.4(MET):c.3749T>C (p.Met1250Thr)
|
rs121913245
|
|
NM_000249.3(MLH1):c.2104_2105delAG
|
rs63751651
|
|
NM_000249.3:c.(1667+1_1668-1)_(1731+1_1732-1)dup
|
|
|
NM_000249.3:c.(545+1_546-1)_(1558+1_1559-1)dup
|
|
|
NM_000249.4(MLH1):c.1024_1038+1del
|
rs1553648201
|
|
NM_000249.4(MLH1):c.1038+2T>A
|
|
|
NM_000249.4(MLH1):c.1038+2T>C
|
|
|
NM_000249.4(MLH1):c.1039-2A>T
|
rs267607815
|
|
NM_000249.4(MLH1):c.1039-3C>G
|
rs730881737
|
|
NM_000249.4(MLH1):c.109G>C (p.Glu37Gln)
|
rs63751012
|
|
NM_000249.4(MLH1):c.114C>G (p.Asn38Lys)
|
rs267607706
|
|
NM_000249.4(MLH1):c.115T>C (p.Cys39Arg)
|
rs587778890
|
|
NM_000249.4(MLH1):c.116+1G>A
|
rs267607709
|
|
NM_000249.4(MLH1):c.116+1G>T
|
rs267607709
|
|
NM_000249.4(MLH1):c.116+2T>A
|
|
|
NM_000249.4(MLH1):c.116+96C>T
|
|
|
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr)
|
rs63751701
|
|
NM_000249.4(MLH1):c.116_116+2del
|
|
|
NM_000249.4(MLH1):c.117-11T>A
|
rs267607711
|
|
NM_000249.4(MLH1):c.117-1G>C
|
|
|
NM_000249.4(MLH1):c.117-2A>C
|
|
|
NM_000249.4(MLH1):c.117-3C>G
|
|
|
NM_000249.4(MLH1):c.1178T>C (p.Leu393Pro)
|
rs786203413
|
|
NM_000249.4(MLH1):c.117T>G (p.Cys39Trp)
|
rs1305605404
|
|
NM_000249.4(MLH1):c.121G>T (p.Asp41Tyr)
|
|
|
NM_000249.4(MLH1):c.131C>A (p.Ser44Tyr)
|
rs63751109
|
|
NM_000249.4(MLH1):c.131_132delinsTT (p.Ser44Phe)
|
rs2125710774
|
|
NM_000249.4(MLH1):c.1409+2T>C
|
rs587778911
|
|
NM_000249.4(MLH1):c.1410-2A>G
|
rs746536721
|
|
NM_000249.4(MLH1):c.1558+1G>C
|
|
|
NM_000249.4(MLH1):c.1558+2T>A
|
rs267607831
|
|
NM_000249.4(MLH1):c.1558+2T>C
|
rs267607831
|
|
NM_000249.4(MLH1):c.1558_1558+1delinsAA
|
rs1575554246
|
|
NM_000249.4(MLH1):c.1559-1G>A
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-1G>C
|
rs267607837
|
|
NM_000249.4(MLH1):c.1588_1590del (p.Phe530del)
|
rs587778930
|
|
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp)
|
rs267607843
|
|
NM_000249.4(MLH1):c.1625A>C (p.Gln542Pro)
|
rs63750511
|
|
NM_000249.4(MLH1):c.1649T>G (p.Leu550Arg)
|
|
|
NM_000249.4(MLH1):c.1652A>C (p.Asn551Thr)
|
rs63750271
|
|
NM_000249.4(MLH1):c.1667+1del
|
rs1553658246
|
|
NM_000249.4(MLH1):c.1667+2T>C
|
rs878853780
|
|
NM_000249.4(MLH1):c.1668-2del
|
|
|
NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro)
|
rs63750059
|
|
NM_000249.4(MLH1):c.1691T>G (p.Leu564Arg)
|
|
|
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val)
|
rs1559578814
|
|
NM_000249.4(MLH1):c.170_181del (p.Lys57_Gln60del)
|
rs1575395286
|
|
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser)
|
rs587781796
|
|
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro)
|
rs63751608
|
|
NM_000249.4(MLH1):c.1731+1_1731+3delinsT
|
|
|
NM_000249.4(MLH1):c.1731+2T>C
|
rs267607856
|
|
NM_000249.4(MLH1):c.1731+2dup
|
|
|
NM_000249.4(MLH1):c.1731+5G>C
|
|
|
NM_000249.4(MLH1):c.1731G>T (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1732-9_1747delinsCC
|
|
|
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe)
|
rs63751713
|
|
NM_000249.4(MLH1):c.1745T>G (p.Leu582Arg)
|
|
|
NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro)
|
rs267607865
|
|
NM_000249.4(MLH1):c.1757C>A (p.Ala586Asp)
|
rs63750587
|
|
NM_000249.4(MLH1):c.1823C>A (p.Ala608Asp)
|
rs267607864
|
|
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del)
|
rs63750486
|
|
NM_000249.4(MLH1):c.1843_1845del (p.Leu615del)
|
|
|
NM_000249.4(MLH1):c.1855G>C (p.Ala619Pro)
|
rs267607866
|
|
NM_000249.4(MLH1):c.185A>C (p.Gln62Pro)
|
rs2081171469
|
|
NM_000249.4(MLH1):c.1865T>C (p.Leu622Pro)
|
rs63750693
|
|
NM_000249.4(MLH1):c.1865T>G (p.Leu622Arg)
|
|
|
NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser)
|
rs587778952
|
|
NM_000249.4(MLH1):c.187G>C (p.Asp63His)
|
rs63750850
|
|
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly)
|
rs1064795693
|
|
NM_000249.4(MLH1):c.1896+2T>C
|
rs267607869
|
|
NM_000249.4(MLH1):c.1896G>C (p.Glu632Asp)
|
|
|
NM_000249.4(MLH1):c.1896G>T (p.Glu632Asp)
|
|
|
NM_000249.4(MLH1):c.1897-14_1897-1del
|
|
|
NM_000249.4(MLH1):c.1897-15_1901del
|
|
|
NM_000249.4(MLH1):c.1906_1907delinsGG (p.Leu636Gly)
|
|
|
NM_000249.4(MLH1):c.1907T>C (p.Leu636Pro)
|
rs63750825
|
|
NM_000249.4(MLH1):c.1918C>A (p.Pro640Thr)
|
rs63749792
|
|
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu)
|
rs267607875
|
|
NM_000249.4(MLH1):c.1936T>G (p.Tyr646Asp)
|
|
|
NM_000249.4(MLH1):c.1937A>C (p.Tyr646Ser)
|
rs35045067
|
|
NM_000249.4(MLH1):c.193G>T (p.Gly65Cys)
|
|
|
NM_000249.4(MLH1):c.1942C>A (p.Pro648Thr)
|
|
|
NM_000249.4(MLH1):c.1943C>A (p.Pro648His)
|
|
|
NM_000249.4(MLH1):c.1943C>G (p.Pro648Arg)
|
rs63750610
|
|
NM_000249.4(MLH1):c.194G>A (p.Gly65Asp)
|
rs63751465
|
|
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro)
|
rs587778964
|
|
NM_000249.4(MLH1):c.1989+2T>C
|
rs1553664119
|
|
NM_000249.4(MLH1):c.1989+3dup
|
|
|
NM_000249.4(MLH1):c.1989G>A (p.Glu663=)
|
rs63751662
|
|
NM_000249.4(MLH1):c.1989G>C (p.Glu663Asp)
|
rs63751662
|
|
NM_000249.4(MLH1):c.1989_1989+8del
|
rs1575628928
|
|
NM_000249.4(MLH1):c.1990-11_1990-2delinsTT
|
|
|
NM_000249.4(MLH1):c.1990-2A>T
|
|
|
NM_000249.4(MLH1):c.1990-3C>G
|
rs267607882
|
|
NM_000249.4(MLH1):c.1995_1996delinsG (p.Asn665fs)
|
|
|
NM_000249.4(MLH1):c.2019del (p.Phe673fs)
|
|
|
NM_000249.4(MLH1):c.2024del (p.Ser675fs)
|
|
|
NM_000249.4(MLH1):c.2027T>G (p.Leu676Arg)
|
rs63750242
|
|
NM_000249.4(MLH1):c.2028_2032delinsT (p.Ser677fs)
|
|
|
NM_000249.4(MLH1):c.2032_2049del (p.Lys678_Phe683del)
|
|
|
NM_000249.4(MLH1):c.2037del (p.Glu679fs)
|
|
|
NM_000249.4(MLH1):c.203T>G (p.Ile68Ser)
|
rs63750281
|
|
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val)
|
rs63750864
|
|
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)
|
rs587778972
|
|
NM_000249.4(MLH1):c.2048_2050del (p.Phe683del)
|
rs1553664506
|
|
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe)
|
rs1064796101
|
|
NM_000249.4(MLH1):c.207+3A>C
|
|
|
NM_000249.4(MLH1):c.207+5G>A
|
rs587781518
|
|
NM_000249.4(MLH1):c.207+5G>C
|
rs587781518
|
|
NM_000249.4(MLH1):c.2072del (p.Ile691fs)
|
|
|
NM_000249.4(MLH1):c.2096del (p.Gly699fs)
|
|
|
NM_000249.4(MLH1):c.2103+2T>A
|
|
|
NM_000249.4(MLH1):c.2103+2T>C
|
|
|
NM_000249.4(MLH1):c.2103+2T>G
|
|
|
NM_000249.4(MLH1):c.2104-1G>A
|
rs587778978
|
|
NM_000249.4(MLH1):c.2104-1G>C
|
|
|
NM_000249.4(MLH1):c.2104-7_2147del
|
|
|
NM_000249.4(MLH1):c.2141_2142dup (p.Thr715fs)
|
|
|
NM_000249.4(MLH1):c.2156_2172del (p.Ile719fs)
|
|
|
NM_000249.4(MLH1):c.2158_2161del (p.Val720fs)
|
|
|
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly)
|
rs587778985
|
|
NM_000249.4(MLH1):c.2162del (p.Tyr721fs)
|
rs786202767
|
|
NM_000249.4(MLH1):c.2172del (p.Leu724fs)
|
|
|
NM_000249.4(MLH1):c.2178del (p.His727fs)
|
|
|
NM_000249.4(MLH1):c.218T>C (p.Leu73Pro)
|
rs397514684
|
|
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg)
|
rs397514684
|
|
NM_000249.4(MLH1):c.2219del (p.Ile740fs)
|
rs1575640960
|
|
NM_000249.4(MLH1):c.2221del (p.Leu741fs)
|
|
|
NM_000249.4(MLH1):c.2240_2241insGT (p.Asp748fs)
|
|
|
NM_000249.4(MLH1):c.2244_2249delinsG (p.Asp748fs)
|
|
|
NM_000249.4(MLH1):c.2248_2249del (p.Tyr750fs)
|
rs786202326
|
|
NM_000249.4(MLH1):c.2250_2251del (p.Tyr750_Lys751delinsTer)
|
|
|
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2253del (p.Val752fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2255_2268delinsA (p.Val752fs)
|
|
|
NM_000249.4(MLH1):c.2263_2264del (p.Arg755fs)
|
rs1559597322
|
|
NM_000249.4(MLH1):c.2269T>C (p.Ter757Gln)
|
|
|
NM_000249.4(MLH1):c.2271A>C (p.Ter757Tyr)
|
rs267607908
|
|
NM_000249.4(MLH1):c.2271A>T (p.Ter757Tyr)
|
|
|
NM_000249.4(MLH1):c.242CTA[1] (p.Thr82del)
|
rs786202328
|
|
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)
|
rs63750641
|
|
NM_000249.4(MLH1):c.27G>A (p.Arg9=)
|
rs759680369
|
|
NM_000249.4(MLH1):c.292G>A (p.Gly98Ser)
|
rs267607725
|
|
NM_000249.4(MLH1):c.292G>C (p.Gly98Arg)
|
rs267607725
|
|
NM_000249.4(MLH1):c.296T>C (p.Phe99Ser)
|
|
|
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser)
|
rs267607726
|
|
NM_000249.4(MLH1):c.301G>C (p.Gly101Arg)
|
rs267607726
|
|
NM_000249.4(MLH1):c.301G>T (p.Gly101Cys)
|
|
|
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp)
|
rs267607727
|
|
NM_000249.4(MLH1):c.302G>T (p.Gly101Val)
|
rs267607727
|
|
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)
|
rs63750453
|
|
NM_000249.4(MLH1):c.305A>C (p.Glu102Ala)
|
rs1553640334
|
|
NM_000249.4(MLH1):c.306+2T>G
|
rs1553640340
|
|
NM_000249.4(MLH1):c.307-1G>A
|
|
|
NM_000249.4(MLH1):c.307-1G>C
|
rs267607736
|
|
NM_000249.4(MLH1):c.320T>A (p.Ile107Lys)
|
rs63750507
|
|
NM_000249.4(MLH1):c.332C>A (p.Ala111Asp)
|
|
|
NM_000249.4(MLH1):c.344T>A (p.Ile115Asn)
|
rs764120517
|
|
NM_000249.4(MLH1):c.350C>A (p.Thr117Lys)
|
|
|
NM_000249.4(MLH1):c.380+1del
|
|
|
NM_000249.4(MLH1):c.380+2T>C
|
rs267607742
|
|
NM_000249.4(MLH1):c.380G>C (p.Arg127Thr)
|
rs63751595
|
|
NM_000249.4(MLH1):c.380G>T (p.Arg127Ile)
|
rs63751595
|
|
NM_000249.4(MLH1):c.380_380+1insTAT
|
|
|
NM_000249.4(MLH1):c.439G>C (p.Gly147Arg)
|
rs267607747
|
|
NM_000249.4(MLH1):c.440G>A (p.Gly147Glu)
|
rs1060500702
|
|
NM_000249.4(MLH1):c.453+1G>A
|
rs267607750
|
|
NM_000249.4(MLH1):c.453+1G>C
|
rs267607750
|
|
NM_000249.4(MLH1):c.453+1G>T
|
rs267607750
|
|
NM_000249.4(MLH1):c.453+2T>A
|
|
|
NM_000249.4(MLH1):c.453+2dup
|
|
|
NM_000249.4(MLH1):c.454-10_455delinsGAACA
|
|
|
NM_000249.4(MLH1):c.454-3_454delinsT
|
|
|
NM_000249.4(MLH1):c.454-7T>A
|
|
|
NM_000249.4(MLH1):c.455T>G (p.Val152Gly)
|
rs1559523949
|
|
NM_000249.4(MLH1):c.485_523del (p.Arg162_Gly174del)
|
|
|
NM_000249.4(MLH1):c.538_545+27delinsTG
|
|
|
NM_000249.4(MLH1):c.543C>T (p.Gly181=)
|
rs1481129490
|
|
NM_000249.4(MLH1):c.545+1G>C
|
|
|
NM_000249.4(MLH1):c.545+1_545+6del
|
|
|
NM_000249.4(MLH1):c.546-1G>A
|
rs587779022
|
|
NM_000249.4(MLH1):c.546-1G>C
|
rs587779022
|
|
NM_000249.4(MLH1):c.546-1G>T
|
|
|
NM_000249.4(MLH1):c.554T>G (p.Val185Gly)
|
rs63750515
|
|
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe)
|
rs63750648
|
|
NM_000249.4(MLH1):c.581T>G (p.Val194Gly)
|
rs876658962
|
|
NM_000249.4(MLH1):c.588+1del
|
rs267607773
|
|
NM_000249.4(MLH1):c.588+2T>C
|
|
|
NM_000249.4(MLH1):c.588+5G>C
|
rs267607768
|
|
NM_000249.4(MLH1):c.588+5G>T
|
rs267607768
|
|
NM_000249.4(MLH1):c.589-2A>T
|
|
|
NM_000249.4(MLH1):c.62C>T (p.Ala21Val)
|
rs63750706
|
|
NM_000249.4(MLH1):c.678-18_685del
|
|
|
NM_000249.4(MLH1):c.69A>C (p.Glu23Asp)
|
|
|
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp)
|
rs63750555
|
|
NM_000249.4(MLH1):c.71_75del (p.Val24fs)
|
rs1553637293
|
|
NM_000249.4(MLH1):c.730G>C (p.Gly244Arg)
|
|
|
NM_000249.4(MLH1):c.731G>T (p.Gly244Val)
|
rs63750303
|
|
NM_000249.4(MLH1):c.739T>C (p.Ser247Pro)
|
rs63750948
|
|
NM_000249.4(MLH1):c.760A>T (p.Lys254Ter)
|
|
|
NM_000249.4(MLH1):c.770_790+82delinsA
|
|
|
NM_000249.4(MLH1):c.783C>T (p.Phe261=)
|
rs768119795
|
|
NM_000249.4(MLH1):c.789_790+4del
|
|
|
NM_000249.4(MLH1):c.790+1_790+2delinsTA
|
|
|
NM_000249.4(MLH1):c.790+3A>C
|
|
|
NM_000249.4(MLH1):c.790+3A>T
|
rs267607792
|
|
NM_000249.4(MLH1):c.790+4A>C
|
rs267607786
|
|
NM_000249.4(MLH1):c.790+4A>G
|
rs267607786
|
|
NM_000249.4(MLH1):c.790+4del
|
|
|
NM_000249.4(MLH1):c.791-1G>A
|
rs267607795
|
|
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro)
|
rs63751448
|
|
NM_000249.4(MLH1):c.875T>C (p.Leu292Pro)
|
rs63750517
|
|
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg)
|
rs63751598
|
|
NM_000249.4(MLH1):c.884+1G>T
|
|
|
NM_000249.4(MLH1):c.884G>T (p.Ser295Ile)
|
rs63750144
|
|
NM_000249.4(MLH1):c.885-1G>A
|
rs1553647894
|
|
NM_000249.4(MLH1):c.885-25_1014delinsCA
|
|
|
NM_000249.4(MLH1):c.885-2A>G
|
rs267607805
|
|
NM_000249.4(MLH1):c.95T>A (p.Ile32Asn)
|
rs1575377175
|
|
NM_000249.4(MLH1):c.974_1000del (p.Arg325_Lys333del)
|
|
|
NM_000249.4(MLH1):c.977T>A (p.Val326Glu)
|
rs63751049
|
|
NM_000249.4(MLH1):c.988_990del (p.Ile330del)
|
rs63751197
|
|
NM_000251.1(MSH2):c.-68-1376_95del1539
|
|
|
NM_000251.1:c.(366+1_367-1)_(1076+1_1077-1)dup
|
|
|
NM_000251.1:c.1442_1443insALU
|
|
|
NM_000251.1:c.212-15_212-14insALU
|
|
|
NM_000251.3(MSH2):c.1003A>C (p.Thr335Pro)
|
|
|
NM_000251.3(MSH2):c.1003A>G (p.Thr335Ala)
|
|
|
NM_000251.3(MSH2):c.1013_1014delinsAT (p.Gly338Asp)
|
|
|
NM_000251.3(MSH2):c.1033_1034insTAT (p.Gln344_Trp345insLeu)
|
rs587782374
|
|
NM_000251.3(MSH2):c.1044_1045delinsCT (p.Gln348_Pro349delinsHisSer)
|
|
|
NM_000251.3(MSH2):c.1046C>A (p.Pro349His)
|
|
|
NM_000251.3(MSH2):c.1067T>A (p.Ile356Lys)
|
rs753075410
|
|
NM_000251.3(MSH2):c.1075A>G (p.Arg359Gly)
|
|
|
NM_000251.3(MSH2):c.1076+1G>C
|
rs267607940
|
|
NM_000251.3(MSH2):c.1076+2T>C
|
|
|
NM_000251.3(MSH2):c.1076G>T (p.Arg359Ile)
|
rs63751604
|
|
NM_000251.3(MSH2):c.108_159del (p.Phe37fs)
|
|
|
NM_000251.3(MSH2):c.1103_1138del (p.Glu368_Leu380delinsVal)
|
|
|
NM_000251.3(MSH2):c.1227_1238del (p.Gly410_Gln413del)
|
rs1573485191
|
|
NM_000251.3(MSH2):c.1241T>C (p.Leu414Pro)
|
rs587779078
|
|
NM_000251.3(MSH2):c.1270_1276+7del
|
|
|
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg)
|
rs879254234
|
|
NM_000251.3(MSH2):c.1277-14C>G
|
rs267607951
|
|
NM_000251.3(MSH2):c.1277-1G>C
|
rs267607948
|
|
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del)
|
rs587779082
|
|
NM_000251.3(MSH2):c.1319T>G (p.Leu440Arg)
|
rs587779084
|
|
NM_000251.3(MSH2):c.1355A>T (p.Glu452Val)
|
rs1553361274
|
|
NM_000251.3(MSH2):c.1361T>A (p.Ile454Lys)
|
|
|
NM_000251.3(MSH2):c.1380_1386+11del
|
|
|
NM_000251.3(MSH2):c.1386+1G>C
|
rs267607957
|
|
NM_000251.3(MSH2):c.1386+2T>G
|
|
|
NM_000251.3(MSH2):c.1387-1G>A
|
rs267607956
|
|
NM_000251.3(MSH2):c.1387-2012C>T
|
|
|
NM_000251.3(MSH2):c.1427_1510+38delinsATTTGATCCTAATC
|
|
|
NM_000251.3(MSH2):c.1433T>G (p.Leu478Arg)
|
|
|
NM_000251.3(MSH2):c.1498G>C (p.Ala500Pro)
|
rs1666733944
|
|
NM_000251.3(MSH2):c.1510+1G>A
|
rs1114167852
|
|
NM_000251.3(MSH2):c.1511-1G>T
|
rs267607964
|
|
NM_000251.3(MSH2):c.1511-2A>C
|
rs267607962
|
|
NM_000251.3(MSH2):c.1568T>C (p.Phe523Ser)
|
rs587782587
|
|
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)
|
rs63751207
|
|
NM_000251.3(MSH2):c.1659_1661+8del
|
|
|
NM_000251.3(MSH2):c.1660A>C (p.Ser554Arg)
|
rs63751656
|
|
NM_000251.3(MSH2):c.1660A>G (p.Ser554Gly)
|
rs63751656
|
|
NM_000251.3(MSH2):c.1660_1661+3del
|
|
|
NM_000251.3(MSH2):c.1661+2T>C
|
rs1553366680
|
|
NM_000251.3(MSH2):c.1661+5G>C
|
rs267607972
|
|
NM_000251.3(MSH2):c.1661G>T (p.Ser554Ile)
|
|
|
NM_000251.3(MSH2):c.1662-1G>T
|
|
|
NM_000251.3(MSH2):c.1662-2A>G
|
rs267607971
|
|
NM_000251.3(MSH2):c.1667T>C (p.Leu556Ser)
|
rs587779101
|
|
NM_000251.3(MSH2):c.1721A>C (p.Gln574Pro)
|
rs1667078647
|
|
NM_000251.3(MSH2):c.1759+1G>T
|
rs587779108
|
|
NM_000251.3(MSH2):c.1759+2T>C
|
rs267607976
|
|
NM_000251.3(MSH2):c.1759G>A (p.Gly587Ser)
|
rs63751140
|
|
NM_000251.3(MSH2):c.1760-2A>G
|
rs1573566175
|
|
NM_000251.3(MSH2):c.1799C>A (p.Ala600Asp)
|
|
|
NM_000251.3(MSH2):c.1799C>T (p.Ala600Val)
|
rs63751236
|
|
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro)
|
rs1553368561
|
|
NM_000251.3(MSH2):c.1807G>T (p.Asp603Tyr)
|
|
|
NM_000251.3(MSH2):c.1808A>C (p.Asp603Ala)
|
rs267607985
|
|
NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly)
|
rs267607985
|
|
NM_000251.3(MSH2):c.1812TGT[1] (p.Val606del)
|
rs267607978
|
|
NM_000251.3(MSH2):c.1829A>C (p.His610Pro)
|
|
|
NM_000251.3(MSH2):c.182_211+1delinsC
|
|
|
NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr)
|
rs63750280
|
|
NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1871T>G (p.Ile624Ser)
|
rs1114167870
|
|
NM_000251.3(MSH2):c.1890A>T (p.Gly630=)
|
|
|
NM_000251.3(MSH2):c.1998_2005+11del
|
|
|
NM_000251.3(MSH2):c.2005+1G>T
|
rs267607986
|
|
NM_000251.3(MSH2):c.2005+2dup
|
rs541623924
|
|
NM_000251.3(MSH2):c.2005+3_2005+14del
|
rs587779125
|
|
NM_000251.3(MSH2):c.2006-1_2012del
|
|
|
NM_000251.3(MSH2):c.2006-3T>G
|
rs1553368975
|
|
NM_000251.3(MSH2):c.2006-7_2022del
|
rs2104367794
|
|
NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp)
|
rs63751640
|
|
NM_000251.3(MSH2):c.2006_2007delinsTT (p.Gly669Val)
|
|
|
NM_000251.3(MSH2):c.2011A>T (p.Asn671Tyr)
|
rs63751232
|
|
NM_000251.3(MSH2):c.2012A>T (p.Asn671Ile)
|
|
|
NM_000251.3(MSH2):c.2019_2021del (p.Gly674del)
|
|
|
NM_000251.3(MSH2):c.2020G>A (p.Gly674Ser)
|
rs63750234
|
|
NM_000251.3(MSH2):c.2021G>T (p.Gly674Val)
|
|
|
NM_000251.3(MSH2):c.2023A>G (p.Lys675Glu)
|
rs1060501990
|
|
NM_000251.3(MSH2):c.2026T>C (p.Ser676Pro)
|
rs63751089
|
|
NM_000251.3(MSH2):c.203_211+9delinsTGCCCGCG
|
|
|
NM_000251.3(MSH2):c.2042A>C (p.Gln681Pro)
|
rs1667302018
|
|
NM_000251.3(MSH2):c.2060T>G (p.Leu687Arg)
|
|
|
NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro)
|
rs914610419
|
|
NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp)
|
rs1060502020
|
|
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu)
|
rs63751432
|
|
NM_000251.3(MSH2):c.2079T>G (p.Cys693Trp)
|
|
|
NM_000251.3(MSH2):c.207_211+42del
|
rs1553348901
|
|
NM_000251.3(MSH2):c.2080T>A (p.Phe694Ile)
|
rs63751409
|
|
NM_000251.3(MSH2):c.2083G>A (p.Val695Met)
|
rs772491283
|
|
NM_000251.3(MSH2):c.2091T>G (p.Cys697Trp)
|
|
|
NM_000251.3(MSH2):c.2099C>A (p.Ala700Glu)
|
rs876658251
|
|
NM_000251.3(MSH2):c.2105T>A (p.Val702Glu)
|
rs587779137
|
|
NM_000251.3(MSH2):c.211+1G>A
|
|
|
NM_000251.3(MSH2):c.212-2A>G
|
rs267607917
|
|
NM_000251.3(MSH2):c.2132G>C (p.Arg711Pro)
|
rs138465383
|
|
NM_000251.3(MSH2):c.2210+1G>T
|
rs267608002
|
|
NM_000251.3(MSH2):c.2210_2210+1delinsTA
|
rs1114167890
|
|
NM_000251.3(MSH2):c.2211-10T>A
|
rs267608006
|
|
NM_000251.3(MSH2):c.2211-1G>A
|
rs267607979
|
|
NM_000251.3(MSH2):c.2211-1G>C
|
rs267607979
|
|
NM_000251.3(MSH2):c.2211-2A>G
|
rs267608001
|
|
NM_000251.3(MSH2):c.2211-3_2211-2delinsG
|
|
|
NM_000251.3(MSH2):c.2232AAT[1] (p.Ile747del)
|
rs267607690
|
|
NM_000251.3(MSH2):c.2242G>C (p.Asp748His)
|
rs267608007
|
|
NM_000251.3(MSH2):c.2242G>T (p.Asp748Tyr)
|
rs267608007
|
|
NM_000251.3(MSH2):c.2245G>A (p.Glu749Lys)
|
rs63751477
|
|
NM_000251.3(MSH2):c.2281G>A (p.Gly761Arg)
|
rs1060502038
|
|
NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg)
|
rs1060502038
|
|
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val)
|
rs775464903
|
|
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)
|
rs1558521929
|
|
NM_000251.3(MSH2):c.2399T>C (p.Leu800Pro)
|
|
|
NM_000251.3(MSH2):c.2402A>C (p.His801Pro)
|
rs1114167875
|
|
NM_000251.3(MSH2):c.2458+1G>C
|
|
|
NM_000251.3(MSH2):c.2458+976A>G
|
rs2104420229
|
|
NM_000251.3(MSH2):c.2458+985A>G
|
|
|
NM_000251.3(MSH2):c.2459-11A>G
|
|
|
NM_000251.3(MSH2):c.2459-12A>G
|
rs267608012
|
|
NM_000251.3(MSH2):c.2459-1G>C
|
rs1060501991
|
|
NM_000251.3(MSH2):c.2459-2A>T
|
|
|
NM_000251.3(MSH2):c.2459-5_2460del
|
|
|
NM_000251.3(MSH2):c.2459-954A>G
|
rs2104421991
|
|
NM_000251.3(MSH2):c.2520_2524delinsGCTAAAC (p.Ile841fs)
|
|
|
NM_000251.3(MSH2):c.2635-12C>G
|
rs1436357692
|
|
NM_000251.3(MSH2):c.2635-1G>T
|
rs267608020
|
|
NM_000251.3(MSH2):c.2635-24A>G
|
rs1667575488
|
|
NM_000251.3(MSH2):c.2635-2A>C
|
rs1114167818
|
|
NM_000251.3(MSH2):c.2635-2A>T
|
rs1114167818
|
|
NM_000251.3(MSH2):c.2641G>T (p.Glu881Ter)
|
|
|
NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter)
|
rs1230083633
|
|
NM_000251.3(MSH2):c.2740del (p.Glu914fs)
|
rs1573582750
|
|
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del)
|
rs587779157
|
|
NM_000251.3(MSH2):c.366+1G>T
|
rs267607924
|
|
NM_000251.3(MSH2):c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
|
|
|
NM_000251.3(MSH2):c.366+1dup
|
|
|
NM_000251.3(MSH2):c.366+2T>C
|
rs1558457533
|
|
NM_000251.3(MSH2):c.366+2T>G
|
|
|
NM_000251.3(MSH2):c.366+2_366+5delinsCA
|
|
|
NM_000251.3(MSH2):c.367-1G>A
|
rs267607925
|
|
NM_000251.3(MSH2):c.445G>C (p.Gly149Arg)
|
|
|
NM_000251.3(MSH2):c.488T>A (p.Val163Asp)
|
rs63750214
|
|
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)
|
rs63750070
|
|
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro)
|
rs63751291
|
|
NM_000251.3(MSH2):c.560T>A (p.Leu187His)
|
|
|
NM_000251.3(MSH2):c.569T>C (p.Leu190Pro)
|
rs1114167878
|
|
NM_000251.3(MSH2):c.572T>G (p.Leu191Arg)
|
|
|
NM_000251.3(MSH2):c.592G>A (p.Glu198Lys)
|
rs587779166
|
|
NM_000251.3(MSH2):c.593A>C (p.Glu198Ala)
|
|
|
NM_000251.3(MSH2):c.596G>A (p.Cys199Tyr)
|
rs63751136
|
|
NM_000251.3(MSH2):c.597T>G (p.Cys199Trp)
|
rs1573441776
|
|
NM_000251.3(MSH2):c.599T>A (p.Val200Asp)
|
rs587779167
|
|
NM_000251.3(MSH2):c.645+2T>C
|
rs876658996
|
|
NM_000251.3(MSH2):c.645+2dup
|
|
|
NM_000251.3(MSH2):c.646-19_661del
|
|
|
NM_000251.3(MSH2):c.646-2A>C
|
rs587779169
|
|
NM_000251.3(MSH2):c.646-2A>T
|
rs587779169
|
|
NM_000251.3(MSH2):c.646-3_654del
|
rs267607929
|
|
NM_000251.3(MSH2):c.646-6_727del
|
|
|
NM_000251.3(MSH2):c.792+1G>C
|
rs267607934
|
|
NM_000251.3(MSH2):c.792+2T>A
|
|
|
NM_000251.3(MSH2):c.792+2T>C
|
rs587782408
|
|
NM_000251.3(MSH2):c.793-1G>C
|
|
|
NM_000251.3(MSH2):c.793-1G>T
|
|
|
NM_000251.3(MSH2):c.793-2A>G
|
rs267607933
|
|
NM_000251.3(MSH2):c.806C>T (p.Ser269Leu)
|
rs63750058
|
|
NM_000251.3(MSH2):c.942+3A>C
|
rs193922376
|
|
NM_000251.3(MSH2):c.942+3A>G
|
rs193922376
|
|
NM_000251.3(MSH2):c.942+3_942+4delinsGT
|
|
|
NM_000251.3(MSH2):c.942G>T (p.Gln314His)
|
rs587779197
|
|
NM_000251.3(MSH2):c.943-10_943-2del
|
|
|
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe)
|
rs63750828
|
|
NM_000264.5(PTCH1):c.1068-1G>T
|
rs1085307752
|
|
NM_000264.5(PTCH1):c.1216-1G>A
|
rs1564051834
|
|
NM_000264.5(PTCH1):c.1348-1G>T
|
|
|
NM_000264.5(PTCH1):c.1462T>C (p.Cys488Arg)
|
rs1131690999
|
|
NM_000264.5(PTCH1):c.1503+2T>A
|
|
|
NM_000264.5(PTCH1):c.1511C>T (p.Pro504Leu)
|
|
|
NM_000264.5(PTCH1):c.201+1G>A
|
rs1131690967
|
|
NM_000264.5(PTCH1):c.2438_2446dup (p.Pro813_Ile815dup)
|
rs1588568813
|
|
NM_000264.5(PTCH1):c.2465T>C (p.Leu822Pro)
|
|
|
NM_000264.5(PTCH1):c.271G>C (p.Gly91Arg)
|
|
|
NM_000264.5(PTCH1):c.2789_2796delinsG (p.Asp930fs)
|
|
|
NM_000264.5(PTCH1):c.3168+3G>C
|
|
|
NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg)
|
rs1588528637
|
|
NM_000264.5(PTCH1):c.3398_3400del (p.Thr1133_Leu1134delinsMet)
|
|
|
NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro)
|
rs1131690989
|
|
NM_000264.5(PTCH1):c.3440T>C (p.Phe1147Ser)
|
rs1131690990
|
|
NM_000264.5(PTCH1):c.3450-11T>A
|
|
|
NM_000264.5(PTCH1):c.3499G>A (p.Gly1167Arg)
|
rs1131690985
|
|
NM_000264.5(PTCH1):c.385T>C (p.Trp129Arg)
|
rs2118873547
|
|
NM_000264.5(PTCH1):c.584G>C (p.Arg195Thr)
|
rs1554702009
|
|
NM_000264.5(PTCH1):c.945+5G>A
|
rs1588609575
|
|
NM_000268.4(NF2):c.12_22delinsTTCA (p.Ile5fs)
|
|
|
NM_000268.4(NF2):c.1447-1G>T
|
|
|
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro)
|
rs1556002568
|
|
NM_000268.4(NF2):c.240+1G>C
|
rs587776562
|
|
NM_000268.4(NF2):c.240G>A (p.Lys80=)
|
rs1555986950
|
|
NM_000268.4(NF2):c.363+2T>C
|
rs2146873271
|
|
NM_000268.4(NF2):c.448-1G>T
|
|
|
NM_000268.4(NF2):c.599+1G>T
|
rs1555993352
|
|
NM_000268.4(NF2):c.810+1G>A
|
rs794728682
|
|
NM_000314.4:c.(164+1_165-1)_(634+1_635-1)dup
|
|
|
NM_000314.4:c.545_546insALU
|
|
|
NM_000314.8(PTEN):c.1000_1003dup (p.Arg335fs)
|
|
|
NM_000314.8(PTEN):c.1004_1008del (p.Arg335fs)
|
|
|
NM_000314.8(PTEN):c.1026+1del
|
rs398123313
|
|
NM_000314.8(PTEN):c.1027-1852A>G
|
|
|
NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro)
|
rs1554826024
|
|
NM_000314.8(PTEN):c.103A>G (p.Met35Val)
|
rs876659443
|
|
NM_000314.8(PTEN):c.104T>C (p.Met35Thr)
|
rs121909225
|
|
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg)
|
rs786204854
|
|
NM_000314.8(PTEN):c.1103del (p.Asp368fs)
|
|
|
NM_000314.8(PTEN):c.1127_1128insAT (p.His376fs)
|
rs1554826052
|
|
NM_000314.8(PTEN):c.1137T>G (p.Tyr379Ter)
|
rs1295420243
|
|
NM_000314.8(PTEN):c.1211G>C (p.Ter404Ser)
|
|
|
NM_000314.8(PTEN):c.1212A>T (p.Ter404Cys)
|
rs876660879
|
|
NM_000314.8(PTEN):c.157GTA[1] (p.Val54del)
|
rs1554893831
|
|
NM_000314.8(PTEN):c.165-1G>C
|
rs786203847
|
|
NM_000314.8(PTEN):c.170T>C (p.Leu57Ser)
|
|
|
NM_000314.8(PTEN):c.182A>G (p.His61Arg)
|
rs398123316
|
|
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)
|
rs398123317
|
|
NM_000314.8(PTEN):c.203A>C (p.Tyr68Ser)
|
rs876660634
|
|
NM_000314.8(PTEN):c.209+2047A>G
|
|
|
NM_000314.8(PTEN):c.209+2T>G
|
rs878853937
|
|
NM_000314.8(PTEN):c.209+4A>G
|
rs2132232446
|
|
NM_000314.8(PTEN):c.210-12C>G
|
|
|
NM_000314.8(PTEN):c.210-1G>C
|
rs1114167621
|
|
NM_000314.8(PTEN):c.210-1G>T
|
rs1114167621
|
|
NM_000314.8(PTEN):c.210-2A>C
|
rs1564828914
|
|
NM_000314.8(PTEN):c.210-2A>G
|
rs1564828914
|
|
NM_000314.8(PTEN):c.253+5_253+13del
|
|
|
NM_000314.8(PTEN):c.275A>C (p.Asp92Ala)
|
rs1114167623
|
|
NM_000314.8(PTEN):c.275A>G (p.Asp92Gly)
|
rs1114167623
|
|
NM_000314.8(PTEN):c.275A>T (p.Asp92Val)
|
|
|
NM_000314.8(PTEN):c.277C>T (p.His93Tyr)
|
rs786204927
|
|
NM_000314.8(PTEN):c.278A>G (p.His93Arg)
|
rs121909238
|
|
NM_000314.8(PTEN):c.283C>A (p.Pro95Thr)
|
rs1114167630
|
|
NM_000314.8(PTEN):c.283C>G (p.Pro95Ala)
|
|
|
NM_000314.8(PTEN):c.287C>T (p.Pro96Leu)
|
rs1554898074
|
|
NM_000314.8(PTEN):c.293T>G (p.Leu98Arg)
|
rs781647403
|
|
NM_000314.8(PTEN):c.302T>A (p.Ile101Asn)
|
rs1339631701
|
|
NM_000314.8(PTEN):c.313T>G (p.Cys105Gly)
|
|
|
NM_000314.8(PTEN):c.320A>G (p.Asp107Gly)
|
rs786204858
|
|
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro)
|
rs1064793243
|
|
NM_000314.8(PTEN):c.334C>G (p.Leu112Val)
|
rs2132242699
|
|
NM_000314.8(PTEN):c.335T>A (p.Leu112Gln)
|
|
|
NM_000314.8(PTEN):c.353A>C (p.His118Pro)
|
|
|
NM_000314.8(PTEN):c.355G>C (p.Val119Leu)
|
rs139767111
|
|
NM_000314.8(PTEN):c.355G>T (p.Val119Phe)
|
rs139767111
|
|
NM_000314.8(PTEN):c.359C>A (p.Ala120Glu)
|
rs1114167647
|
|
NM_000314.8(PTEN):c.367C>G (p.His123Asp)
|
rs786204931
|
|
NM_000314.8(PTEN):c.370T>A (p.Cys124Ser)
|
rs121909223
|
|
NM_000314.8(PTEN):c.370T>G (p.Cys124Gly)
|
rs121909223
|
|
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr)
|
rs876660535
|
|
NM_000314.8(PTEN):c.371G>C (p.Cys124Ser)
|
|
|
NM_000314.8(PTEN):c.377C>T (p.Ala126Val)
|
rs1114167656
|
|
NM_000314.8(PTEN):c.379G>A (p.Gly127Arg)
|
rs587781255
|
|
NM_000314.8(PTEN):c.380G>A (p.Gly127Glu)
|
rs398123322
|
|
NM_000314.8(PTEN):c.382A>G (p.Lys128Glu)
|
rs1554898138
|
|
NM_000314.8(PTEN):c.384G>C (p.Lys128Asn)
|
rs1114167645
|
|
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro)
|
rs121909229
|
|
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)
|
rs121909241
|
|
NM_000314.8(PTEN):c.395G>T (p.Gly132Val)
|
rs121909241
|
|
NM_000314.8(PTEN):c.39_41del (p.Arg15del)
|
rs1114167625
|
|
NM_000314.8(PTEN):c.402G>T (p.Met134Ile)
|
rs1114167676
|
|
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys)
|
rs370795352
|
|
NM_000314.8(PTEN):c.405A>G (p.Ile135Met)
|
|
|
NM_000314.8(PTEN):c.408T>G (p.Cys136Trp)
|
rs869312776
|
|
NM_000314.8(PTEN):c.422A>C (p.His141Pro)
|
rs863224666
|
|
NM_000314.8(PTEN):c.45A>C (p.Arg15Ser)
|
rs1064794096
|
|
NM_000314.8(PTEN):c.463T>A (p.Tyr155Asn)
|
rs398123325
|
|
NM_000314.8(PTEN):c.46T>C (p.Tyr16His)
|
rs1064796078
|
|
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly)
|
rs786202688
|
|
NM_000314.8(PTEN):c.476G>T (p.Arg159Met)
|
rs1114167673
|
|
NM_000314.8(PTEN):c.492+1G>A
|
rs1554898242
|
|
NM_000314.8(PTEN):c.492+1G>T
|
rs1554898242
|
|
NM_000314.8(PTEN):c.493-2A>C
|
rs587781784
|
|
NM_000314.8(PTEN):c.493-2A>T
|
rs587781784
|
|
NM_000314.8(PTEN):c.493G>A (p.Gly165Arg)
|
rs587782603
|
|
NM_000314.8(PTEN):c.497T>A (p.Val166Glu)
|
rs1554900515
|
|
NM_000314.8(PTEN):c.511C>G (p.Gln171Glu)
|
rs786204864
|
|
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)
|
rs786204865
|
|
NM_000314.8(PTEN):c.518G>C (p.Arg173Pro)
|
rs121913294
|
|
NM_000314.8(PTEN):c.518G>T (p.Arg173Leu)
|
rs121913294
|
|
NM_000314.8(PTEN):c.529T>G (p.Tyr177Asp)
|
rs1860418425
|
|
NM_000314.8(PTEN):c.530A>G (p.Tyr177Cys)
|
rs1564837839
|
|
NM_000314.8(PTEN):c.584T>C (p.Phe195Ser)
|
|
|
NM_000314.8(PTEN):c.598T>G (p.Phe200Val)
|
rs587782473
|
|
NM_000314.8(PTEN):c.634+2_634+3insC
|
rs1554900673
|
|
NM_000314.8(PTEN):c.634+3_634+6del
|
rs1589659775
|
|
NM_000314.8(PTEN):c.634+5G>C
|
rs138336847
|
|
NM_000314.8(PTEN):c.635-1G>T
|
rs876661024
|
|
NM_000314.8(PTEN):c.635-3C>G
|
rs1085308056
|
|
NM_000314.8(PTEN):c.69_74del (p.22DL[1])
|
|
|
NM_000314.8(PTEN):c.70G>A (p.Asp24Asn)
|
rs786201995
|
|
NM_000314.8(PTEN):c.711_722del (p.Lys237_Phe241delinsAsn)
|
|
|
NM_000314.8(PTEN):c.723T>G (p.Phe241Leu)
|
rs17849090
|
|
NM_000314.8(PTEN):c.738_743del (p.Leu247_Pro248del)
|
rs1114167666
|
|
NM_000314.8(PTEN):c.752G>T (p.Gly251Val)
|
rs1554825226
|
|
NM_000314.8(PTEN):c.752_753delinsTG (p.Gly251Val)
|
rs1114167664
|
|
NM_000314.8(PTEN):c.755A>T (p.Asp252Val)
|
rs121909239
|
|
NM_000314.8(PTEN):c.761A>C (p.Lys254Thr)
|
rs1114167633
|
|
NM_000314.8(PTEN):c.764T>A (p.Val255Glu)
|
rs1564566998
|
|
NM_000314.8(PTEN):c.80-2A>C
|
rs2132187034
|
|
NM_000314.8(PTEN):c.80-5_82del
|
rs1589617114
|
|
NM_000314.8(PTEN):c.802-1G>A
|
rs1257124719
|
|
NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys)
|
rs886041877
|
|
NM_000314.8(PTEN):c.815A>C (p.His272Pro)
|
rs1114167648
|
|
NM_000314.8(PTEN):c.830C>G (p.Thr277Arg)
|
rs398123329
|
|
NM_000314.8(PTEN):c.929A>G (p.Asp310Gly)
|
rs1564568473
|
|
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del)
|
rs1554893765
|
|
NM_000314.8(PTEN):c.959T>C (p.Leu320Ser)
|
rs1114167667
|
|
NM_000321.3(RB1):c.1049+1G>A
|
rs587776782
|
|
NM_000321.3(RB1):c.1049+1G>T
|
rs587776782
|
|
NM_000321.3(RB1):c.138-1G>A
|
rs1593414337
|
|
NM_000321.3(RB1):c.1389+4A>C
|
rs1131690879
|
|
NM_000321.3(RB1):c.1421+1G>C
|
rs1131690886
|
|
NM_000321.3(RB1):c.1421G>T (p.Ser474Ile)
|
rs1555286575
|
|
NM_000321.3(RB1):c.1466G>A (p.Cys489Tyr)
|
rs1131690877
|
|
NM_000321.3(RB1):c.1498+1G>A
|
rs1131690909
|
|
NM_000321.3(RB1):c.1498+2T>G
|
rs1948523741
|
|
NM_000321.3(RB1):c.1696-2A>G
|
rs1593529868
|
|
NM_000321.3(RB1):c.2107-1G>A
|
rs587778860
|
|
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg)
|
rs137853296
|
|
NM_000321.3(RB1):c.2143A>T (p.Lys715Ter)
|
|
|
NM_000321.3(RB1):c.2325+1G>C
|
rs1131690882
|
|
NM_000321.3(RB1):c.2489G>A (p.Arg830Lys)
|
|
|
NM_000321.3(RB1):c.2490-28T>G
|
|
|
NM_000321.3(RB1):c.2520+5G>A
|
rs1131690881
|
|
NM_000321.3(RB1):c.380G>A (p.Ser127Asn)
|
rs1131690843
|
|
NM_000321.3(RB1):c.380G>C (p.Ser127Thr)
|
rs1131690843
|
|
NM_000321.3(RB1):c.539+1G>A
|
rs1566187856
|
|
NM_000321.3(RB1):c.607+2dup
|
rs1131690895
|
|
NM_000321.3(RB1):c.857A>G (p.Asp286Gly)
|
rs1131690864
|
|
NM_000321.3(RB1):c.861+2T>C
|
|
|
NM_000368.5(TSC1):c.1029+3A>G
|
rs1554817334
|
|
NM_000368.5(TSC1):c.1263+37C>T
|
|
|
NM_000368.5(TSC1):c.1997+2T>G
|
rs2131806725
|
|
NM_000368.5(TSC1):c.210+1G>C
|
|
|
NM_000368.5(TSC1):c.2626-2A>C
|
rs118203717
|
|
NM_000368.5(TSC1):c.2813+1G>C
|
|
|
NM_000368.5(TSC1):c.35_69del (p.Ala12fs)
|
|
|
NM_000368.5(TSC1):c.363G>T (p.Lys121Asn)
|
rs118203370
|
|
NM_000368.5(TSC1):c.508G>A (p.Gly170Ser)
|
|
|
NM_000368.5(TSC1):c.659T>A (p.Val220Asp)
|
|
|
NM_000368.5(TSC1):c.737+1G>T
|
rs118203438
|
|
NM_000368.5(TSC1):c.737+2T>C
|
rs1564497308
|
|
NM_000368.5(TSC1):c.913+2T>C
|
|
|
NM_000368.5(TSC1):c.913G>A (p.Gly305Arg)
|
rs118203468
|
|
NM_000455.5(STK11):c.151_162del (p.Met51_Leu54del)
|
rs1131690916
|
|
NM_000455.5(STK11):c.155_157del (p.Gly52del)
|
rs1131690917
|
|
NM_000455.5(STK11):c.159_170del (p.Asp53_Gly56del)
|
rs1131690953
|
|
NM_000455.5(STK11):c.200T>C (p.Leu67Pro)
|
rs137853077
|
|
NM_000455.5(STK11):c.290+2T>A
|
|
|
NM_000455.5(STK11):c.290+2_290+4del
|
rs1568690546
|
|
NM_000455.5(STK11):c.375-7_375-6del
|
rs2080765043
|
|
NM_000455.5(STK11):c.460C>G (p.His154Asp)
|
rs878853988
|
|
NM_000455.5(STK11):c.464+1G>C
|
|
|
NM_000455.5(STK11):c.465-21_465del
|
|
|
NM_000455.5(STK11):c.465-2A>C
|
rs1131690931
|
|
NM_000455.5(STK11):c.487G>C (p.Gly163Arg)
|
rs730881972
|
|
NM_000455.5(STK11):c.536C>A (p.Pro179Gln)
|
|
|
NM_000455.5(STK11):c.541_543delinsGAA (p.Asn181Glu)
|
rs1568707668
|
|
NM_000455.5(STK11):c.582C>A (p.Asp194Glu)
|
rs786202134
|
|
NM_000455.5(STK11):c.586G>C (p.Gly196Arg)
|
|
|
NM_000455.5(STK11):c.597+1G>T
|
rs886039554
|
|
NM_000455.5(STK11):c.709G>C (p.Asp237His)
|
rs878853247
|
|
NM_000455.5(STK11):c.711C>A (p.Asp237Glu)
|
rs1057520379
|
|
NM_000455.5(STK11):c.719C>G (p.Ser240Trp)
|
rs730881976
|
|
NM_000455.5(STK11):c.725G>A (p.Gly242Glu)
|
rs1568708382
|
|
NM_000455.5(STK11):c.734+2T>C
|
rs1131690941
|
|
NM_000455.5(STK11):c.734_734+2dup
|
|
|
NM_000455.5(STK11):c.737ACA[1] (p.Asn247del)
|
|
|
NM_000455.5(STK11):c.854T>C (p.Leu285Pro)
|
rs1555738724
|
|
NM_000455.5(STK11):c.863-2A>G
|
rs1131690944
|
|
NM_000455.5(STK11):c.890_907del (p.Arg297_Gln302del)
|
rs1131690935
|
|
NM_000455.5(STK11):c.914A>C (p.Gln305Pro)
|
|
|
NM_000455.5(STK11):c.920+2_920+31del
|
|
|
NM_000465.2:c.1764_1765insALU
|
|
|
NM_000465.2:c.1776_1777insL1
|
|
|
NM_000465.4(BARD1):c.1306_1314+7del
|
rs1694934695
|
|
NM_000465.4(BARD1):c.1314+1G>A
|
rs753785671
|
|
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
|
|
|
NM_000465.4(BARD1):c.1395+1dup
|
rs1553619688
|
|
NM_000465.4(BARD1):c.1396-1G>A
|
rs2106077292
|
|
NM_000465.4(BARD1):c.1568+1G>T
|
|
|
NM_000465.4(BARD1):c.1568+2T>C
|
rs1553619196
|
|
NM_000465.4(BARD1):c.1568+2dup
|
|
|
NM_000465.4(BARD1):c.1569-1G>A
|
rs1574756672
|
|
NM_000465.4(BARD1):c.1569-2A>G
|
rs1693509336
|
|
NM_000465.4(BARD1):c.158+1G>C
|
rs1553628351
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
NM_000465.4(BARD1):c.1676_1677+2del
|
|
|
NM_000465.4(BARD1):c.1677+1G>A
|
|
|
NM_000465.4(BARD1):c.1677+2T>A
|
|
|
NM_000465.4(BARD1):c.1678-1_1678del
|
rs1553615184
|
|
NM_000465.4(BARD1):c.1678-2A>G
|
rs1693089850
|
|
NM_000465.4(BARD1):c.1678-3C>G
|
rs1693089932
|
|
NM_000465.4(BARD1):c.1810+1G>A
|
rs876659894
|
|
NM_000465.4(BARD1):c.1810+2T>G
|
rs1234033325
|
|
NM_000465.4(BARD1):c.1903+1G>A
|
rs876660237
|
|
NM_000465.4(BARD1):c.1903+1G>T
|
rs876660237
|
|
NM_000465.4(BARD1):c.1903+2T>A
|
rs1574737047
|
|
NM_000465.4(BARD1):c.1904-2A>T
|
rs864622239
|
|
NM_000465.4(BARD1):c.1904-2del
|
rs876659560
|
|
NM_000465.4(BARD1):c.1934_2001+52del
|
rs1574706516
|
|
NM_000465.4(BARD1):c.1961del (p.Pro654fs)
|
|
|
NM_000465.4(BARD1):c.2001+1G>C
|
rs768490891
|
|
NM_000465.4(BARD1):c.2001+2T>C
|
|
|
NM_000465.4(BARD1):c.2002-15_2003del
|
|
|
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter)
|
rs1328046615
|
|
NM_000465.4(BARD1):c.2038_2042del (p.Trp680fs)
|
rs1553612222
|
|
NM_000465.4(BARD1):c.2065dup (p.Asp689fs)
|
|
|
NM_000465.4(BARD1):c.2099dup (p.Gln701fs)
|
|
|
NM_000465.4(BARD1):c.2101C>T (p.Gln701Ter)
|
rs587782348
|
|
NM_000465.4(BARD1):c.2116A>T (p.Lys706Ter)
|
|
|
NM_000465.4(BARD1):c.2129_2132del (p.Asp710fs)
|
rs1692216921
|
|
NM_000465.4(BARD1):c.2144dup (p.Thr716fs)
|
rs1574703115
|
|
NM_000465.4(BARD1):c.215+1G>A
|
rs2106145519
|
|
NM_000465.4(BARD1):c.215+2T>C
|
rs1559441760
|
|
NM_000465.4(BARD1):c.215+5_215+8del
|
rs876658777
|
|
NM_000465.4(BARD1):c.216-1G>A
|
rs876658905
|
|
NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter)
|
|
|
NM_000465.4(BARD1):c.2188C>T (p.Gln730Ter)
|
|
|
NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter)
|
rs2105986813
|
|
NM_000465.4(BARD1):c.2215dup (p.Tyr739fs)
|
|
|
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter)
|
rs1259296823
|
|
NM_000465.4(BARD1):c.2261_2262del (p.Lys754fs)
|
rs1574702099
|
|
NM_000465.4(BARD1):c.2267G>A (p.Trp756Ter)
|
rs1358155595
|
|
NM_000465.4(BARD1):c.2268G>A (p.Trp756Ter)
|
rs786202118
|
|
NM_000465.4(BARD1):c.2291_2294del (p.Ile764fs)
|
|
|
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)
|
rs750413473
|
|
NM_000465.4(BARD1):c.2301_2303delinsACATC (p.Met768fs)
|
|
|
NM_000465.4(BARD1):c.364+1G>A
|
rs2106134408
|
|
NM_000465.4(BARD1):c.365-1G>T
|
rs1559426428
|
|
NM_000535.5:c.1274_1275insALU
|
|
|
NM_000535.5:c.804-64_804-63insSVA
|
|
|
NM_000535.7(PMS2):c.1144+1G>C
|
rs373885654
|
|
NM_000535.7(PMS2):c.1144+1del
|
rs2128746842
|
|
NM_000535.7(PMS2):c.1145-2A>G
|
rs1325835006
|
|
NM_000535.7(PMS2):c.125TAG[1] (p.Val43del)
|
rs1064794820
|
|
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)
|
rs121434629
|
|
NM_000535.7(PMS2):c.163+2T>A
|
|
|
NM_000535.7(PMS2):c.163+2T>C
|
rs587779329
|
|
NM_000535.7(PMS2):c.163+2dup
|
|
|
NM_000535.7(PMS2):c.19_23+26delinsCC
|
|
|
NM_000535.7(PMS2):c.2006+1G>A
|
rs1554297040
|
|
NM_000535.7(PMS2):c.2006_2006+4del
|
rs771928911
|
|
NM_000535.7(PMS2):c.2007-1G>A
|
rs267608170
|
|
NM_000535.7(PMS2):c.2007-1G>C
|
|
|
NM_000535.7(PMS2):c.2007-4_2007-2delinsACG
|
|
|
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)
|
rs587781317
|
|
NM_000535.7(PMS2):c.209A>T (p.Asp70Val)
|
|
|
NM_000535.7(PMS2):c.2101C>T (p.His701Tyr)
|
rs763866879
|
|
NM_000535.7(PMS2):c.2102A>G (p.His701Arg)
|
rs1583298873
|
|
NM_000535.7(PMS2):c.2174+1G>T
|
|
|
NM_000535.7(PMS2):c.2174+2del
|
|
|
NM_000535.7(PMS2):c.2175-1G>A
|
|
|
NM_000535.7(PMS2):c.2175-2A>G
|
|
|
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg)
|
rs1554304979
|
|
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg)
|
rs1554304979
|
|
NM_000535.7(PMS2):c.2275+1G>C
|
rs1554294393
|
|
NM_000535.7(PMS2):c.2275+2T>C
|
rs1562604682
|
|
NM_000535.7(PMS2):c.23+1G>C
|
rs587782074
|
|
NM_000535.7(PMS2):c.23+2T>A
|
|
|
NM_000535.7(PMS2):c.24-2A>G
|
rs1583419860
|
|
NM_000535.7(PMS2):c.2438_2442del (p.Arg813fs)
|
|
|
NM_000535.7(PMS2):c.2445+1G>A
|
rs876661113
|
|
NM_000535.7(PMS2):c.2446-1G>T
|
rs774583397
|
|
NM_000535.7(PMS2):c.2446-2A>G
|
rs886039709
|
|
NM_000535.7(PMS2):c.250+1G>C
|
|
|
NM_000535.7(PMS2):c.250+2T>G
|
|
|
NM_000535.7(PMS2):c.251-11CT[2]
|
|
|
NM_000535.7(PMS2):c.2531C>A (p.Pro844His)
|
rs587782787
|
|
NM_000535.7(PMS2):c.2534A>G (p.His845Arg)
|
rs1554292741
|
|
NM_000535.7(PMS2):c.2534A>T (p.His845Leu)
|
rs1554292741
|
|
NM_000535.7(PMS2):c.2555del (p.His852fs)
|
|
|
NM_000535.7(PMS2):c.2556_2557del (p.Ile853fs)
|
|
|
NM_000535.7(PMS2):c.353+2T>C
|
rs111466480
|
|
NM_000535.7(PMS2):c.537+1G>A
|
rs863224450
|
|
NM_000535.7(PMS2):c.538-1G>A
|
rs988423880
|
|
NM_000535.7(PMS2):c.705+1G>C
|
rs267608147
|
|
NM_000535.7(PMS2):c.705+1G>T
|
rs267608147
|
|
NM_000535.7(PMS2):c.705+1del
|
|
|
NM_000535.7(PMS2):c.705+2T>C
|
rs1784783734
|
|
NM_000535.7(PMS2):c.706-1G>A
|
rs1202370194
|
|
NM_000535.7(PMS2):c.706-1G>C
|
|
|
NM_000535.7(PMS2):c.706-1G>T
|
|
|
NM_000535.7(PMS2):c.706-2A>C
|
rs745487791
|
|
NM_000535.7(PMS2):c.798_803+15delinsGTAGTTCT
|
|
|
NM_000535.7(PMS2):c.803+1G>T
|
rs1562669585
|
|
NM_000535.7(PMS2):c.803+5G>A
|
rs939641251
|
|
NM_000535.7(PMS2):c.804-10T>G
|
rs267608151
|
|
NM_000535.7(PMS2):c.804-1G>A
|
rs1562664845
|
|
NM_000535.7(PMS2):c.804-1G>C
|
|
|
NM_000535.7(PMS2):c.811G>C (p.Gly271Arg)
|
|
|
NM_000535.7(PMS2):c.812G>A (p.Gly271Asp)
|
rs1583364867
|
|
NM_000535.7(PMS2):c.815del (p.Phe272fs)
|
|
|
NM_000535.7(PMS2):c.899_903+5delinsTAACAC
|
|
|
NM_000535.7(PMS2):c.902dup (p.Val302fs)
|
rs1784291698
|
|
NM_000535.7(PMS2):c.903+1G>A
|
rs1554300689
|
|
NM_000535.7(PMS2):c.903+1G>T
|
rs1554300689
|
|
NM_000535.7(PMS2):c.903+2T>A
|
|
|
NM_000535.7(PMS2):c.903+2T>C
|
rs878854059
|
|
NM_000535.7(PMS2):c.904-1G>T
|
|
|
NM_000535.7(PMS2):c.904-2A>C
|
rs587781339
|
|
NM_000535.7(PMS2):c.988+1G>T
|
rs757110564
|
|
NM_000535.7(PMS2):c.988+1del
|
rs876660075
|
|
NM_000535.7(PMS2):c.988+2T>C
|
|
|
NM_000546.6(TP53):c.-29+1G>C
|
rs2151082372
|
|
NM_000546.6(TP53):c.1000G>T (p.Gly334Trp)
|
rs730882028
|
|
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro)
|
rs121912664
|
|
NM_000546.6(TP53):c.1010G>T (p.Arg337Leu)
|
rs121912664
|
|
NM_000546.6(TP53):c.1021_1022delinsAG (p.Phe341Ser)
|
|
|
NM_000546.6(TP53):c.1039G>A (p.Ala347Thr)
|
rs1597349147
|
|
NM_000546.6(TP53):c.1101-1G>A
|
rs876658982
|
|
NM_000546.6(TP53):c.1101-2A>G
|
rs587781664
|
|
NM_000546.6(TP53):c.283_375+21del
|
rs1555526462
|
|
NM_000546.6(TP53):c.313G>A (p.Gly105Ser)
|
rs1060501195
|
|
NM_000546.6(TP53):c.313G>C (p.Gly105Arg)
|
rs1060501195
|
|
NM_000546.6(TP53):c.328_339del (p.Arg110_Phe113del)
|
rs587782490
|
|
NM_000546.6(TP53):c.329G>T (p.Arg110Leu)
|
rs11540654
|
|
NM_000546.6(TP53):c.374C>A (p.Thr125Lys)
|
rs786201057
|
|
NM_000546.6(TP53):c.375+1G>A
|
rs1567555445
|
|
NM_000546.6(TP53):c.375+1G>T
|
rs1567555445
|
|
NM_000546.6(TP53):c.375+2T>A
|
rs1555526469
|
|
NM_000546.6(TP53):c.375+2T>G
|
rs1555526469
|
|
NM_000546.6(TP53):c.376-2A>G
|
rs786202799
|
|
NM_000546.6(TP53):c.376-2A>T
|
rs786202799
|
|
NM_000546.6(TP53):c.376-2_377dup
|
|
|
NM_000546.6(TP53):c.376T>C (p.Tyr126His)
|
|
|
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
|
rs730881999
|
|
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)
|
rs747342068
|
|
NM_000546.6(TP53):c.401T>G (p.Phe134Cys)
|
rs780442292
|
|
NM_000546.6(TP53):c.402T>A (p.Phe134Leu)
|
rs1555526278
|
|
NM_000546.6(TP53):c.405C>G (p.Cys135Trp)
|
rs1057519976
|
|
NM_000546.6(TP53):c.413C>T (p.Ala138Val)
|
rs750600586
|
|
NM_000546.6(TP53):c.421T>C (p.Cys141Arg)
|
rs1057519978
|
|
NM_000546.6(TP53):c.423C>G (p.Cys141Trp)
|
rs1057519977
|
|
NM_000546.6(TP53):c.434T>C (p.Leu145Pro)
|
rs587782197
|
|
NM_000546.6(TP53):c.451_452delinsTT (p.Pro151Phe)
|
rs1597370899
|
|
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)
|
rs1057520000
|
|
NM_000546.6(TP53):c.455C>G (p.Pro152Arg)
|
rs587782705
|
|
NM_000546.6(TP53):c.466C>G (p.Arg156Gly)
|
rs563378859
|
|
NM_000546.6(TP53):c.470T>C (p.Val157Ala)
|
rs1131691023
|
|
NM_000546.6(TP53):c.473_474delinsTT (p.Arg158Leu)
|
rs1567553501
|
|
NM_000546.6(TP53):c.485T>A (p.Ile162Asn)
|
rs587780069
|
|
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn)
|
rs786203436
|
|
NM_000546.6(TP53):c.487T>G (p.Tyr163Asp)
|
rs786203436
|
|
NM_000546.6(TP53):c.509_520del (p.Thr170_Val173del)
|
rs2151030744
|
|
NM_000546.6(TP53):c.515T>A (p.Val172Asp)
|
rs1131691021
|
|
NM_000546.6(TP53):c.518T>C (p.Val173Ala)
|
rs1057519747
|
|
NM_000546.6(TP53):c.532C>G (p.His178Asp)
|
rs1064795203
|
|
NM_000546.6(TP53):c.534C>A (p.His178Gln)
|
rs1555526001
|
|
NM_000546.6(TP53):c.534C>G (p.His178Gln)
|
rs1555526001
|
|
NM_000546.6(TP53):c.535C>A (p.His179Asn)
|
rs587780070
|
|
NM_000546.6(TP53):c.535C>G (p.His179Asp)
|
rs587780070
|
|
NM_000546.6(TP53):c.536A>C (p.His179Pro)
|
rs1057519991
|
|
NM_000546.6(TP53):c.536A>T (p.His179Leu)
|
rs1057519991
|
|
NM_000546.6(TP53):c.541_559+1del
|
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.559+2_559+3delinsGT
|
rs1597369390
|
|
NM_000546.6(TP53):c.559G>C (p.Gly187Arg)
|
rs776167460
|
|
NM_000546.6(TP53):c.569C>G (p.Pro190Arg)
|
rs876660825
|
|
NM_000546.6(TP53):c.569C>T (p.Pro190Leu)
|
rs876660825
|
|
NM_000546.6(TP53):c.569CTC[1] (p.Pro191del)
|
rs1555525902
|
|
NM_000546.6(TP53):c.579T>A (p.His193Gln)
|
rs1597368777
|
|
NM_000546.6(TP53):c.613T>C (p.Tyr205His)
|
rs1057520008
|
|
NM_000546.6(TP53):c.637C>G (p.Arg213Gly)
|
rs397516436
|
|
NM_000546.6(TP53):c.644G>A (p.Ser215Asn)
|
rs587782177
|
|
NM_000546.6(TP53):c.653T>A (p.Val218Glu)
|
|
|
NM_000546.6(TP53):c.655C>T (p.Pro219Ser)
|
rs879253894
|
|
NM_000546.6(TP53):c.657_665del (p.Tyr220_Pro222del)
|
rs876658144
|
|
NM_000546.6(TP53):c.672+1G>A
|
rs863224499
|
|
NM_000546.6(TP53):c.673-1G>C
|
rs878854073
|
|
NM_000546.6(TP53):c.673-2A>T
|
rs1555525585
|
|
NM_000546.6(TP53):c.695T>C (p.Ile232Thr)
|
rs587781589
|
|
NM_000546.6(TP53):c.698ACTACA[1] (p.Asn235_Tyr236del)
|
rs794727846
|
|
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser)
|
rs587780073
|
|
NM_000546.6(TP53):c.709A>G (p.Met237Val)
|
rs730882004
|
|
NM_000546.6(TP53):c.711G>T (p.Met237Ile)
|
rs587782664
|
|
NM_000546.6(TP53):c.714T>G (p.Cys238Trp)
|
rs193920789
|
|
NM_000546.6(TP53):c.716A>G (p.Asn239Ser)
|
rs1057519999
|
|
NM_000546.6(TP53):c.716_736del (p.Asn239_Gly245del)
|
rs876659260
|
|
NM_000546.6(TP53):c.717C>G (p.Asn239Lys)
|
rs1057522275
|
|
NM_000546.6(TP53):c.718A>C (p.Ser240Arg)
|
rs1567549584
|
|
NM_000546.6(TP53):c.724T>A (p.Cys242Ser)
|
rs1057519982
|
|
NM_000546.6(TP53):c.728T>C (p.Met243Thr)
|
rs730882006
|
|
NM_000546.6(TP53):c.736A>C (p.Met246Leu)
|
rs483352695
|
|
NM_000546.6(TP53):c.737T>A (p.Met246Lys)
|
rs587780074
|
|
NM_000546.6(TP53):c.737T>C (p.Met246Thr)
|
rs587780074
|
|
NM_000546.6(TP53):c.738G>A (p.Met246Ile)
|
rs1019340046
|
|
NM_000546.6(TP53):c.738G>C (p.Met246Ile)
|
|
|
NM_000546.6(TP53):c.743G>C (p.Arg248Pro)
|
rs11540652
|
|
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)
|
rs11540652
|
|
NM_000546.6(TP53):c.75-2A>G
|
rs1131691020
|
|
NM_000546.6(TP53):c.751A>C (p.Ile251Leu)
|
rs730882007
|
|
NM_000546.6(TP53):c.754_762del (p.Leu252_Ile254del)
|
rs2073243450
|
|
NM_000546.6(TP53):c.761TCA[1] (p.Ile255del)
|
rs1064794309
|
|
NM_000546.6(TP53):c.763A>T (p.Ile255Phe)
|
rs1057519995
|
|
NM_000546.6(TP53):c.770T>C (p.Leu257Pro)
|
rs28934577
|
|
NM_000546.6(TP53):c.770T>G (p.Leu257Arg)
|
rs28934577
|
|
NM_000546.6(TP53):c.781_782+8del
|
|
|
NM_000546.6(TP53):c.782+2T>A
|
|
|
NM_000546.6(TP53):c.782+2T>G
|
rs876659076
|
|
NM_000546.6(TP53):c.783-2A>T
|
rs1060501207
|
|
NM_000546.6(TP53):c.783-4_792del
|
|
|
NM_000546.6(TP53):c.794T>A (p.Leu265Gln)
|
rs879253942
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000546.6(TP53):c.814G>T (p.Val272Leu)
|
rs121912657
|
|
NM_000546.6(TP53):c.821T>C (p.Val274Ala)
|
rs1057520006
|
|
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)
|
rs863224451
|
|
NM_000546.6(TP53):c.825T>G (p.Cys275Trp)
|
rs1555525279
|
|
NM_000546.6(TP53):c.829T>C (p.Cys277Arg)
|
rs1064795369
|
|
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)
|
rs763098116
|
|
NM_000546.6(TP53):c.830G>T (p.Cys277Phe)
|
rs763098116
|
|
NM_000546.6(TP53):c.832C>G (p.Pro278Ala)
|
rs17849781
|
|
NM_000546.6(TP53):c.838_846del (p.Asp281_Arg283del)
|
rs1555525215
|
|
NM_000546.6(TP53):c.838_848delinsCA (p.Arg280_Arg283delinsHis)
|
rs587781564
|
|
NM_000546.6(TP53):c.842A>T (p.Asp281Val)
|
rs587781525
|
|
NM_000546.6(TP53):c.843C>A (p.Asp281Glu)
|
rs1057519984
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000546.6(TP53):c.848G>C (p.Arg283Pro)
|
rs371409680
|
|
NM_000546.6(TP53):c.850A>C (p.Thr284Pro)
|
|
|
NM_000546.6(TP53):c.917_919+10del
|
rs1555525040
|
|
NM_000546.6(TP53):c.919+1G>C
|
rs1131691039
|
|
NM_000546.6(TP53):c.920-2A>G
|
rs397516439
|
|
NM_000546.6(TP53):c.920-2A>T
|
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
NM_000546.6(TP53):c.96+2T>G
|
|
|
NM_000546.6(TP53):c.96+2dup
|
rs1131691015
|
|
NM_000546.6(TP53):c.987_993+2delinsTA
|
|
|
NM_000546.6(TP53):c.993+1G>A
|
rs11575997
|
|
NM_000546.6(TP53):c.993+1G>C
|
rs11575997
|
|
NM_000546.6(TP53):c.993+2T>G
|
rs1597359053
|
|
NM_000546.6(TP53):c.993G>A (p.Gln331=)
|
rs11575996
|
|
NM_000546.6(TP53):c.995T>A (p.Ile332Asn)
|
|
|
NM_000548.5(TSC2):c.1172T>A (p.Val391Glu)
|
|
|
NM_000548.5(TSC2):c.1477C>G (p.Leu493Val)
|
rs45517177
|
|
NM_000548.5(TSC2):c.1717-1G>C
|
|
|
NM_000548.5(TSC2):c.1717-3C>A
|
|
|
NM_000548.5(TSC2):c.1724T>G (p.Leu575Arg)
|
|
|
NM_000548.5(TSC2):c.1871A>C (p.Asp624Ala)
|
rs2151296839
|
|
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp)
|
rs1057520642
|
|
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr)
|
rs45486196
|
|
NM_000548.5(TSC2):c.2113G>A (p.Val705Met)
|
rs397515241
|
|
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)
|
rs137854155
|
|
NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro)
|
rs397514919
|
|
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn)
|
rs1555510754
|
|
NM_000548.5(TSC2):c.3814+2T>G
|
|
|
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)
|
rs45517360
|
|
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro)
|
rs45517362
|
|
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg)
|
rs45517369
|
|
NM_000548.5(TSC2):c.4898_4915del (p.His1633_Lys1638del)
|
|
|
NM_000548.5(TSC2):c.4919A>G (p.His1640Arg)
|
rs794727602
|
|
NM_000548.5(TSC2):c.5017G>T (p.Val1673Phe)
|
rs45490993
|
|
NM_000548.5(TSC2):c.5045T>C (p.Leu1682Pro)
|
|
|
NM_000548.5(TSC2):c.5068+2T>C
|
rs397515152
|
|
NM_000548.5(TSC2):c.5069-3_5069-2del
|
rs1114167460
|
|
NM_000548.5(TSC2):c.5123T>C (p.Leu1708Pro)
|
rs397515274
|
|
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)
|
rs45507199
|
|
NM_000548.5(TSC2):c.599+2T>C
|
|
|
NM_000548.5(TSC2):c.707T>C (p.Leu236Pro)
|
rs1596278377
|
|
NM_000548.5(TSC2):c.775-2A>G
|
|
|
NM_000548.5(TSC2):c.839T>C (p.Met280Thr)
|
|
|
NM_000548.5(TSC2):c.848+2T>A
|
|
|
NM_000551.4(VHL):c.188T>G (p.Leu63Arg)
|
|
|
NM_000551.4(VHL):c.208G>A (p.Glu70Lys)
|
rs5030802
|
|
NM_000551.4(VHL):c.214T>C (p.Ser72Pro)
|
rs869025618
|
|
NM_000551.4(VHL):c.226T>A (p.Phe76Ile)
|
rs1559425911
|
|
NM_000551.4(VHL):c.226T>C (p.Phe76Leu)
|
|
|
NM_000551.4(VHL):c.232A>T (p.Asn78Tyr)
|
rs869025621
|
|
NM_000551.4(VHL):c.236G>C (p.Arg79Pro)
|
|
|
NM_000551.4(VHL):c.238A>G (p.Ser80Gly)
|
rs786202787
|
|
NM_000551.4(VHL):c.250G>A (p.Val84Met)
|
rs5030827
|
|
NM_000551.4(VHL):c.251T>A (p.Val84Glu)
|
|
|
NM_000551.4(VHL):c.263_265dup (p.Trp88_Leu89insArg)
|
rs1131690960
|
|
NM_000551.4(VHL):c.264G>T (p.Trp88Cys)
|
rs869025622
|
|
NM_000551.4(VHL):c.266T>C (p.Leu89Pro)
|
rs5030807
|
|
NM_000551.4(VHL):c.269A>T (p.Asn90Ile)
|
rs143985153
|
|
NM_000551.4(VHL):c.277G>C (p.Gly93Arg)
|
rs5030808
|
|
NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val)
|
rs1559426072
|
|
NM_000551.4(VHL):c.287A>C (p.Gln96Pro)
|
rs1559426089
|
|
NM_000551.4(VHL):c.291_296del (p.Tyr98_Pro99del)
|
rs1575922271
|
|
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)
|
rs864321643
|
|
NM_000551.4(VHL):c.302T>A (p.Leu101Gln)
|
|
|
NM_000551.4(VHL):c.302T>C (p.Leu101Pro)
|
rs1553619456
|
|
NM_000551.4(VHL):c.302T>G (p.Leu101Arg)
|
|
|
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)
|
rs397516440
|
|
NM_000551.4(VHL):c.326T>A (p.Ile109Asn)
|
rs398123482
|
|
NM_000551.4(VHL):c.335_340+5del
|
rs869025632
|
|
NM_000551.4(VHL):c.341-3T>G
|
rs1131690965
|
|
NM_000551.4(VHL):c.344A>C (p.His115Pro)
|
rs5030812
|
|
NM_000551.4(VHL):c.357C>A (p.Phe119Leu)
|
|
|
NM_000551.4(VHL):c.365C>T (p.Ala122Val)
|
rs1696261924
|
|
NM_000551.4(VHL):c.395A>C (p.Gln132Pro)
|
rs1347416980
|
|
NM_000551.4(VHL):c.397A>C (p.Thr133Pro)
|
rs1131690961
|
|
NM_000551.4(VHL):c.402_428del (p.Glu134_Val142del)
|
|
|
NM_000551.4(VHL):c.460C>T (p.Pro154Ser)
|
rs1553619993
|
|
NM_000551.4(VHL):c.463+3A>C
|
rs1131690954
|
|
NM_000551.4(VHL):c.463G>T (p.Val155Leu)
|
rs869025659
|
|
NM_000551.4(VHL):c.475A>G (p.Lys159Glu)
|
rs1575932011
|
|
NM_000551.4(VHL):c.483_500dup (p.Cys162_Arg167dup)
|
rs1553620312
|
|
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr)
|
rs397516444
|
|
NM_000551.4(VHL):c.487C>T (p.Leu163Phe)
|
rs1553620318
|
|
NM_000551.4(VHL):c.488T>C (p.Leu163Pro)
|
rs28940297
|
|
NM_000551.4(VHL):c.492G>T (p.Gln164His)
|
rs1352275281
|
|
NM_000551.4(VHL):c.497T>C (p.Val166Ala)
|
rs397516445
|
|
NM_000551.4(VHL):c.506T>C (p.Leu169Pro)
|
rs1131690962
|
|
NM_000551.4(VHL):c.506del (p.Leu169fs)
|
|
|
NM_000551.4(VHL):c.509T>A (p.Val170Asp)
|
rs864321642
|
|
NM_000551.4(VHL):c.575C>T (p.Pro192Leu)
|
rs902694906
|
|
NM_000551.4(VHL):c.581T>G (p.Val194Gly)
|
rs1131690963
|
|
NM_000551.4(VHL):c.588del (p.Asp197fs)
|
|
|
NM_000551.4(VHL):c.593T>C (p.Leu198Pro)
|
rs869025667
|
|
NM_000551.4(VHL):c.607_608del (p.Gln203fs)
|
|
|
NM_001042492.3(NF1):c.1063-13G>A
|
rs1131691066
|
|
NM_001042492.3(NF1):c.1070T>G (p.Leu357Arg)
|
rs137854563
|
|
NM_001042492.3(NF1):c.1186-1G>T
|
rs876660782
|
|
NM_001042492.3(NF1):c.1528-1G>A
|
rs876660595
|
|
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn)
|
rs1555613206
|
|
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)
|
rs1131691095
|
|
NM_001042492.3(NF1):c.2252-1G>C
|
rs587781577
|
|
NM_001042492.3(NF1):c.2252-2A>G
|
rs1131691105
|
|
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg)
|
rs199474762
|
|
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg)
|
rs876658853
|
|
NM_001042492.3(NF1):c.2509T>A (p.Trp837Arg)
|
rs587781747
|
|
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe)
|
rs199474785
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
NM_001042492.3(NF1):c.3502G>C (p.Gly1168Arg)
|
rs878853883
|
|
NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro)
|
rs786204157
|
|
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His)
|
rs876660206
|
|
NM_001042492.3(NF1):c.4725-1G>A
|
rs1555619391
|
|
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)
|
rs1131691103
|
|
NM_001042492.3(NF1):c.60+2del
|
rs1131691101
|
|
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg)
|
rs1060500342
|
|
NM_001042492.3(NF1):c.6705-3C>G
|
rs1131691079
|
|
NM_001042492.3(NF1):c.6919_6921del (p.Lys2307del)
|
rs587782819
|
|
NM_001042492.3(NF1):c.889-1G>T
|
rs587781517
|
|
NM_001048174.2(MUTYH):c.1102+1G>T
|
rs587781337
|
|
NM_001048174.2(MUTYH):c.1240-1G>T
|
rs876660837
|
|
NM_001048174.2(MUTYH):c.1257_1258del (p.Ile421fs)
|
rs876659414
|
|
NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter)
|
rs876660774
|
|
NM_001048174.2(MUTYH):c.1392_1392+6del
|
rs864621967
|
|
NM_001048174.2(MUTYH):c.1393-1G>A
|
rs1057517459
|
|
NM_001048174.2(MUTYH):c.1393-2_1393-1del
|
rs1570346782
|
|
NM_001048174.2(MUTYH):c.1430del (p.Cys477fs)
|
|
|
NM_001048174.2(MUTYH):c.1434+1G>T
|
rs876659420
|
|
NM_001048174.2(MUTYH):c.1434+2del
|
rs2149102703
|
|
NM_001048174.2(MUTYH):c.1434+4A>G
|
rs876658323
|
|
NM_001048174.2(MUTYH):c.1450del (p.Gln484fs)
|
|
|
NM_001048174.2(MUTYH):c.1561del (p.Gln521fs)
|
|
|
NM_001048174.2(MUTYH):c.1A>G (p.Met1Val)
|
rs1570467133
|
|
NM_001048174.2(MUTYH):c.248T>C (p.Leu83Pro)
|
rs1557485553
|
|
NM_001048174.2(MUTYH):c.264+1G>T
|
rs1553130042
|
|
NM_001048174.2(MUTYH):c.265-2A>G
|
|
|
NM_001048174.2(MUTYH):c.299A>G (p.Tyr100Cys)
|
rs876660615
|
|
NM_001048174.2(MUTYH):c.304+2T>C
|
|
|
NM_001048174.2(MUTYH):c.305-2A>G
|
rs863224452
|
|
NM_001048174.2(MUTYH):c.317A>T (p.Glu106Val)
|
rs864622450
|
|
NM_001048174.2(MUTYH):c.323T>C (p.Met108Thr)
|
|
|
NM_001048174.2(MUTYH):c.378+1del
|
|
|
NM_001048174.2(MUTYH):c.378+2T>G
|
rs1553129521
|
|
NM_001048174.2(MUTYH):c.378G>A (p.Gln126=)
|
rs1645260006
|
|
NM_001048174.2(MUTYH):c.379-1G>A
|
rs1057520660
|
|
NM_001048174.2(MUTYH):c.379-1G>T
|
|
|
NM_001048174.2(MUTYH):c.40A>T (p.Lys14Ter)
|
|
|
NM_001048174.2(MUTYH):c.420G>A (p.Glu140=)
|
rs876658641
|
|
NM_001048174.2(MUTYH):c.461G>C (p.Arg154Pro)
|
rs143353451
|
|
NM_001048174.2(MUTYH):c.479_492+1del
|
rs766553845
|
|
NM_001048174.2(MUTYH):c.492+1del
|
rs1553128712
|
|
NM_001048174.2(MUTYH):c.493-2A>G
|
rs1553128663
|
|
NM_001048174.2(MUTYH):c.493-3C>G
|
|
|
NM_001048174.2(MUTYH):c.605A>G (p.Gln202Arg)
|
rs1645128943
|
|
NM_001048174.2(MUTYH):c.606+1G>T
|
rs878854193
|
|
NM_001048174.2(MUTYH):c.606G>C (p.Gln202His)
|
rs199989617
|
|
NM_001048174.2(MUTYH):c.622G>A (p.Asp208Asn)
|
rs1570409700
|
|
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)
|
rs1057517765
|
|
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
|
rs587780749
|
|
NM_001048174.2(MUTYH):c.655C>G (p.Arg219Gly)
|
rs587782885
|
|
NM_001048174.2(MUTYH):c.740_745dup (p.Gly248_Asp249insAlaGly)
|
|
|
NM_001048174.2(MUTYH):c.763A>G (p.Met255Val)
|
rs876659676
|
|
NM_001048174.2(MUTYH):c.914-1G>A
|
|
|
NM_001127511.3(APC):c.-191T>G
|
|
|
NM_001127511.3(APC):c.-192_-191delinsTAGCAAGGG
|
rs1580995904
|
|
NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter)
|
rs1064795596
|
|
NM_001128425.2(MUTYH):c.36+2T>C
|
|
|
NM_001128425.2(MUTYH):c.933_933+1del
|
rs1553127514
|
|
NM_001258271.2(MLH1):c.1896+834del
|
|
|
NM_001370259.2(MEN1):c.1013T>C (p.Leu338Pro)
|
rs1114167480
|
|
NM_001370259.2(MEN1):c.1049+1G>C
|
rs1114167489
|
|
NM_001370259.2(MEN1):c.1051T>A (p.Tyr351Asn)
|
|
|
NM_001370259.2(MEN1):c.1064G>A (p.Arg355Gln)
|
rs1114167474
|
|
NM_001370259.2(MEN1):c.108_122del (p.Leu37_Leu41del)
|
rs1555166695
|
|
NM_001370259.2(MEN1):c.1102G>A (p.Ala368Thr)
|
rs1114167473
|
|
NM_001370259.2(MEN1):c.1102G>C (p.Ala368Pro)
|
rs1114167473
|
|
NM_001370259.2(MEN1):c.1127T>C (p.Leu376Pro)
|
rs1114167471
|
|
NM_001370259.2(MEN1):c.112T>C (p.Ser38Pro)
|
|
|
NM_001370259.2(MEN1):c.124G>C (p.Gly42Arg)
|
|
|
NM_001370259.2(MEN1):c.1258A>T (p.Ile420Phe)
|
rs1114167526
|
|
NM_001370259.2(MEN1):c.1259T>G (p.Ile420Ser)
|
rs1114167539
|
|
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)
|
rs386134249
|
|
NM_001370259.2(MEN1):c.1267T>C (p.Trp423Arg)
|
rs1555164270
|
|
NM_001370259.2(MEN1):c.1279A>C (p.Ser427Arg)
|
rs1555164245
|
|
NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg)
|
rs1114167528
|
|
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His)
|
rs1592636161
|
|
NM_001370259.2(MEN1):c.1351-2A>C
|
rs1060499986
|
|
NM_001370259.2(MEN1):c.1355G>T (p.Arg452Leu)
|
|
|
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)
|
rs778670301
|
|
NM_001370259.2(MEN1):c.143T>C (p.Leu48Pro)
|
rs1592660057
|
|
NM_001370259.2(MEN1):c.1539del (p.Arg516fs)
|
rs1592631908
|
|
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)
|
rs863224527
|
|
NM_001370259.2(MEN1):c.1669A>G (p.Lys557Glu)
|
rs1114167517
|
|
NM_001370259.2(MEN1):c.1682T>G (p.Met561Arg)
|
|
|
NM_001370259.2(MEN1):c.1708_1728del (p.Ile570_Lys576del)
|
rs1555163115
|
|
NM_001370259.2(MEN1):c.1710del (p.Asn571fs)
|
|
|
NM_001370259.2(MEN1):c.1725del (p.Lys576fs)
|
rs1555163124
|
|
NM_001370259.2(MEN1):c.1730T>C (p.Leu577Pro)
|
rs794728634
|
|
NM_001370259.2(MEN1):c.249_266del (p.Ser84_Leu89del)
|
|
|
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
|
|
|
NM_001370259.2(MEN1):c.431T>G (p.Phe144Cys)
|
|
|
NM_001370259.2(MEN1):c.473C>A (p.Ala158Asp)
|
rs794728617
|
|
NM_001370259.2(MEN1):c.514G>T (p.Asp172Tyr)
|
rs1114167494
|
|
NM_001370259.2(MEN1):c.515A>T (p.Asp172Val)
|
rs794728618
|
|
NM_001370259.2(MEN1):c.530T>G (p.Leu177Arg)
|
|
|
NM_001370259.2(MEN1):c.541C>G (p.His181Asp)
|
|
|
NM_001370259.2(MEN1):c.542A>G (p.His181Arg)
|
rs1941861451
|
|
NM_001370259.2(MEN1):c.654G>T (p.Arg218=)
|
|
|
NM_001370259.2(MEN1):c.658T>C (p.Trp220Arg)
|
rs1085307971
|
|
NM_001370259.2(MEN1):c.662T>C (p.Leu221Pro)
|
rs2136143369
|
|
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg)
|
rs1592649108
|
|
NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr)
|
rs794728624
|
|
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.776T>C (p.Leu259Pro)
|
rs2136139920
|
|
NM_001370259.2(MEN1):c.788T>C (p.Leu263Pro)
|
rs1114167502
|
|
NM_001370259.2(MEN1):c.824+1G>C
|
rs1060499976
|
|
NM_001370259.2(MEN1):c.825-1G>A
|
rs1114167505
|
|
NM_001370259.2(MEN1):c.830C>A (p.Pro277His)
|
rs1060499973
|
|
NM_001370259.2(MEN1):c.841G>A (p.Gly281Arg)
|
rs1114167493
|
|
NM_001370259.2(MEN1):c.851C>T (p.Ala284Val)
|
|
|
NM_001370259.2(MEN1):c.912G>A (p.Lys304=)
|
rs1592646211
|
|
NM_001370259.2(MEN1):c.913-1G>A
|
rs1057518572
|
|
NM_001370259.2(MEN1):c.913-2A>G
|
rs1114167498
|
|
NM_001370259.2(MEN1):c.922T>C (p.Ser308Pro)
|
rs1064793169
|
|
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr)
|
rs2136120898
|
|
NM_001370259.2(MEN1):c.950A>G (p.His317Arg)
|
rs1114167495
|
|
NM_001370259.2(MEN1):c.95C>G (p.Pro32Arg)
|
|
|
NM_002382.5(MAX):c.171+2T>A
|
rs786203009
|
|
NM_002382.5(MAX):c.212T>A (p.Ile71Asn)
|
rs876659610
|
|
NM_002382.5(MAX):c.348del (p.Ser117fs)
|
|
|
NM_002439.5(MSH3):c.127G>A (p.Ala43Thr)
|
rs1351260483
|
|
NM_002439.5(MSH3):c.14del (p.Lys5fs)
|
rs1749186228
|
|
NM_002439.5(MSH3):c.1568+1G>C
|
|
|
NM_002439.5(MSH3):c.1654-1G>C
|
|
|
NM_002439.5(MSH3):c.1764-2A>C
|
|
|
NM_002439.5(MSH3):c.1896+1G>A
|
rs1330593620
|
|
NM_002439.5(MSH3):c.1896+2T>C
|
rs1580027713
|
|
NM_002439.5(MSH3):c.1897-1G>A
|
rs1744149615
|
|
NM_002439.5(MSH3):c.2084+1G>A
|
rs2112884587
|
|
NM_002439.5(MSH3):c.2084+1G>C
|
|
|
NM_002439.5(MSH3):c.2253+3_2253+7del
|
rs1488467945
|
|
NM_002439.5(MSH3):c.2254-1G>A
|
|
|
NM_002439.5(MSH3):c.2319-2A>G
|
rs1197719947
|
|
NM_002439.5(MSH3):c.237+1G>A
|
|
|
NM_002439.5(MSH3):c.2435+2T>C
|
rs1580045730
|
|
NM_002439.5(MSH3):c.2655+1G>A
|
rs1580053768
|
|
NM_002439.5(MSH3):c.2813+1G>A
|
rs2112054627
|
|
NM_002439.5(MSH3):c.2814-95_2871del
|
|
|
NM_002439.5(MSH3):c.2988_3000+893del
|
rs1580091639
|
|
NM_002439.5(MSH3):c.3001-2A>G
|
rs886037878
|
|
NM_002439.5(MSH3):c.358+1G>A
|
rs2112801912
|
|
NM_002439.5(MSH3):c.47C>G (p.Ser16Ter)
|
|
|
NM_002439.5(MSH3):c.579+1G>A
|
rs2112809006
|
|
NM_002439.5(MSH3):c.57del (p.Arg20fs)
|
|
|
NM_002485.4:c.113_114insALU
|
|
|
NM_002485.5(NBN):c.1124+1G>C
|
rs1057517209
|
|
NM_002485.5(NBN):c.115C>T (p.Gln39Ter)
|
rs377730553
|
|
NM_002485.5(NBN):c.1397+1_1397+9del
|
rs2129716262
|
|
NM_002485.5(NBN):c.1397+1_1397+9delinsACA
|
rs876659666
|
|
NM_002485.5(NBN):c.171+1G>A
|
rs931715719
|
|
NM_002485.5(NBN):c.171+2T>G
|
|
|
NM_002485.5(NBN):c.172-1_176del
|
|
|
NM_002485.5(NBN):c.172-2A>G
|
|
|
NM_002485.5(NBN):c.1845+1G>A
|
rs2129695663
|
|
NM_002485.5(NBN):c.1845+1G>C
|
|
|
NM_002485.5(NBN):c.2070+1G>A
|
rs1554556454
|
|
NM_002485.5(NBN):c.2070+2T>G
|
rs786203223
|
|
NM_002485.5(NBN):c.2071-1G>A
|
rs786201965
|
|
NM_002485.5(NBN):c.2071-1G>C
|
rs786201965
|
|
NM_002485.5(NBN):c.2184+1G>A
|
rs756363734
|
|
NM_002485.5(NBN):c.2185-1G>A
|
rs1057517262
|
|
NM_002485.5(NBN):c.2185-1G>T
|
|
|
NM_002485.5(NBN):c.2226_2234+4del
|
rs1563497529
|
|
NM_002485.5(NBN):c.2234+1G>T
|
rs1586024147
|
|
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)
|
rs751570713
|
|
NM_002485.5(NBN):c.2238del (p.Arg745_Tyr746insTer)
|
|
|
NM_002485.5(NBN):c.2T>C (p.Met1Thr)
|
rs746422391
|
|
NM_002485.5(NBN):c.320+1G>A
|
rs1364533250
|
|
NM_002485.5(NBN):c.321-2A>G
|
rs587777931
|
|
NM_002485.5(NBN):c.35_37+10del
|
rs781710700
|
|
NM_002485.5(NBN):c.37+2dup
|
rs876658183
|
|
NM_002485.5(NBN):c.38-2A>G
|
rs771475965
|
|
NM_002485.5(NBN):c.480+2T>G
|
|
|
NM_002485.5(NBN):c.481-1G>A
|
|
|
NM_002485.5(NBN):c.481-2A>G
|
rs751567476
|
|
NM_002485.5(NBN):c.4del (p.Trp2fs)
|
rs1275657359
|
|
NM_002485.5(NBN):c.584+1G>A
|
rs1811862598
|
|
NM_002485.5(NBN):c.584+2T>C
|
rs1586101154
|
|
NM_002485.5(NBN):c.585-1_585delinsC
|
rs786203662
|
|
NM_002485.5(NBN):c.585-2A>G
|
rs772005832
|
|
NM_002485.5(NBN):c.702+1G>A
|
rs1057517104
|
|
NM_002485.5(NBN):c.702+1G>C
|
rs1057517104
|
|
NM_002485.5(NBN):c.741_742dup (p.Glu248fs)
|
rs864309670
|
|
NM_002485.5(NBN):c.897-1G>A
|
rs1586076299
|
|
NM_002485.5(NBN):c.93del (p.Cys31fs)
|
|
|
NM_002485.5(NBN):c.994+1G>T
|
rs1554562083
|
|
NM_002485.5(NBN):c.994+1del
|
|
|
NM_002485.5(NBN):c.994+2T>C
|
rs1586075690
|
|
NM_002485.5(NBN):c.994G>A (p.Gly332Arg)
|
rs1437392838
|
|
NM_002485.5(NBN):c.995-23_998inv
|
|
|
NM_002485.5(NBN):c.995-2A>G
|
rs876659521
|
|
NM_002485.5(NBN):c.9del (p.Lys3fs)
|
|
|
NM_002528.7(NTHL1):c.116-1G>A
|
rs1411394625
|
|
NM_002528.7(NTHL1):c.354+1G>A
|
rs1377633383
|
|
NM_002528.7(NTHL1):c.42_43del (p.Leu15fs)
|
|
|
NM_002528.7(NTHL1):c.525+2T>G
|
rs2150942179
|
|
NM_002528.7(NTHL1):c.545dup (p.Gln183fs)
|
|
|
NM_002528.7(NTHL1):c.709dup (p.Ile237fs)
|
rs2150938411
|
|
NM_002528.7(NTHL1):c.792-1G>A
|
|
|
NM_002528.7(NTHL1):c.792-2A>G
|
rs2150937989
|
|
NM_002528.7(NTHL1):c.883C>T (p.Gln295Ter)
|
|
|
NM_002734.5(PRKAR1A):c.502+1G>A
|
rs1555813578
|
|
NM_002734.5(PRKAR1A):c.932_933del (p.Glu311fs)
|
|
|
NM_002734.5(PRKAR1A):c.973+1G>C
|
|
|
NM_002734.5(PRKAR1A):c.974_981delinsCAAA (p.Gly325fs)
|
|
|
NM_002878.4(RAD51D):c.134_144+15del
|
|
|
NM_002878.4(RAD51D):c.141C>A (p.Tyr47Ter)
|
rs771077929
|
|
NM_002878.4(RAD51D):c.144+1dup
|
|
|
NM_002878.4(RAD51D):c.211_263+3141del
|
|
|
NM_002878.4(RAD51D):c.264-2A>C
|
rs1555568514
|
|
NM_002878.4(RAD51D):c.264-2A>G
|
rs1555568514
|
|
NM_002878.4(RAD51D):c.2T>A (p.Met1Lys)
|
rs1064794619
|
|
NM_002878.4(RAD51D):c.2del (p.Met1fs)
|
|
|
NM_002878.4(RAD51D):c.335G>C (p.Gly112Ala)
|
rs587782848
|
|
NM_002878.4(RAD51D):c.346-1G>C
|
rs1555568386
|
|
NM_002878.4(RAD51D):c.486_532del (p.Glu162fs)
|
rs1597861744
|
|
NM_002878.4(RAD51D):c.54del (p.Gln18fs)
|
|
|
NM_002878.4(RAD51D):c.577-2A>G
|
rs1555567649
|
|
NM_002878.4(RAD51D):c.5del (p.Gly2fs)
|
|
|
NM_002878.4(RAD51D):c.608delinsGA (p.Val203fs)
|
rs1597858862
|
|
NM_002878.4(RAD51D):c.620C>G (p.Ser207Trp)
|
rs370228071
|
|
NM_002878.4(RAD51D):c.623dup (p.Thr209fs)
|
rs1555567610
|
|
NM_002878.4(RAD51D):c.641dup (p.Leu215fs)
|
rs1409088398
|
|
NM_002878.4(RAD51D):c.667+1G>T
|
rs1597858666
|
|
NM_002878.4(RAD51D):c.668-2A>C
|
rs1567726325
|
|
NM_002878.4(RAD51D):c.738+1G>A
|
rs1567726124
|
|
NM_002878.4(RAD51D):c.738G>A (p.Val246=)
|
rs1210620444
|
|
NM_002878.4(RAD51D):c.739-2A>T
|
rs1597856297
|
|
NM_002878.4(RAD51D):c.752del (p.Ile251fs)
|
rs1597856236
|
|
NM_002878.4(RAD51D):c.774dup (p.Arg259fs)
|
rs1555567170
|
|
NM_002878.4(RAD51D):c.801del (p.Trp268fs)
|
rs2142411904
|
|
NM_002878.4(RAD51D):c.808_857del (p.Phe270fs)
|
|
|
NM_002878.4(RAD51D):c.82+1G>A
|
rs786202788
|
|
NM_002878.4(RAD51D):c.82+2T>G
|
rs1597878498
|
|
NM_002878.4(RAD51D):c.898del (p.Arg300fs)
|
rs786202251
|
|
NM_002878.4(RAD51D):c.901C>T (p.Gln301Ter)
|
rs1060502959
|
|
NM_002878.4(RAD51D):c.904-2A>C
|
|
|
NM_002878.4(RAD51D):c.904-2A>T
|
rs1403784434
|
|
NM_003000.2:c.251_252insALU
|
|
|
NM_003000.2:c.256_257insALU
|
|
|
NM_003000.3(SDHB):c.127G>C (p.Ala43Pro)
|
|
|
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)
|
rs772551056
|
|
NM_003000.3(SDHB):c.194T>A (p.Leu65His)
|
rs876659329
|
|
NM_003000.3(SDHB):c.200+3G>C
|
rs876659330
|
|
NM_003000.3(SDHB):c.200+5G>C
|
rs1553178726
|
|
NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr)
|
rs587782904
|
|
NM_003000.3(SDHB):c.221A>T (p.Asp74Val)
|
rs876658713
|
|
NM_003000.3(SDHB):c.238A>G (p.Lys80Glu)
|
rs1131691051
|
|
NM_003000.3(SDHB):c.278G>T (p.Cys93Phe)
|
rs1131691054
|
|
NM_003000.3(SDHB):c.287-3C>G
|
rs1553177772
|
|
NM_003000.3(SDHB):c.289A>T (p.Ile97Phe)
|
rs1553177769
|
|
NM_003000.3(SDHB):c.296G>A (p.Gly99Asp)
|
rs878854576
|
|
NM_003000.3(SDHB):c.331C>G (p.Leu111Val)
|
rs2078005090
|
|
NM_003000.3(SDHB):c.332T>C (p.Leu111Pro)
|
rs1570948631
|
|
NM_003000.3(SDHB):c.386C>G (p.Pro129Arg)
|
rs587781735
|
|
NM_003000.3(SDHB):c.395A>C (p.His132Pro)
|
rs74315372
|
|
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr)
|
rs786203529
|
|
NM_003000.3(SDHB):c.415C>T (p.Leu139Phe)
|
rs397516834
|
|
NM_003000.3(SDHB):c.419T>A (p.Val140Asp)
|
|
|
NM_003000.3(SDHB):c.539T>C (p.Leu180Pro)
|
|
|
NM_003000.3(SDHB):c.566G>T (p.Cys189Phe)
|
rs876658540
|
|
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr)
|
rs2077978456
|
|
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser)
|
rs2077978300
|
|
NM_003000.3(SDHB):c.598T>C (p.Trp200Arg)
|
rs1557739966
|
|
NM_003000.3(SDHB):c.622G>A (p.Gly208Arg)
|
|
|
NM_003000.3(SDHB):c.623G>A (p.Gly208Glu)
|
|
|
NM_003000.3(SDHB):c.634C>G (p.Leu212Val)
|
rs1228560456
|
|
NM_003000.3(SDHB):c.634C>T (p.Leu212Phe)
|
rs1228560456
|
|
NM_003000.3(SDHB):c.641A>G (p.Gln214Arg)
|
rs781590955
|
|
NM_003000.3(SDHB):c.642+1G>C
|
rs1131691052
|
|
NM_003000.3(SDHB):c.642G>T (p.Gln214His)
|
rs1278834014
|
|
NM_003000.3(SDHB):c.643-1G>A
|
rs1553177292
|
|
NM_003000.3(SDHB):c.653G>C (p.Trp218Ser)
|
rs1553177290
|
|
NM_003000.3(SDHB):c.65_72+16del
|
|
|
NM_003000.3(SDHB):c.688C>G (p.Arg230Gly)
|
|
|
NM_003000.3(SDHB):c.728G>T (p.Cys243Phe)
|
rs1570944788
|
|
NM_003000.3(SDHB):c.73-1G>A
|
rs1131691055
|
|
NM_003000.3(SDHB):c.73-1G>T
|
rs1131691055
|
|
NM_003000.3(SDHB):c.73-2A>G
|
|
|
NM_003000.3(SDHB):c.746G>T (p.Cys249Phe)
|
|
|
NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr)
|
rs786201085
|
|
NM_003000.3(SDHB):c.761C>T (p.Pro254Leu)
|
rs948484408
|
|
NM_003000.3(SDHB):c.780dup (p.Lys261fs)
|
rs1557738304
|
|
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs)
|
rs1553176976
|
|
NM_003000.3(SDHB):c.789del (p.Ile263fs)
|
rs2077946198
|
|
NM_003000.3(SDHB):c.801del (p.Lys268_Met269insTer)
|
|
|
NM_003000.3(SDHB):c.806del (p.Met269fs)
|
|
|
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr)
|
rs1553262444
|
|
NM_003001.5(SDHC):c.160C>T (p.Pro54Ser)
|
|
|
NM_003001.5(SDHC):c.179+1G>C
|
rs1057517818
|
|
NM_003001.5(SDHC):c.180-2A>G
|
rs1363265634
|
|
NM_003001.5(SDHC):c.202T>C (p.Ser68Pro)
|
rs2102336180
|
|
NM_003001.5(SDHC):c.21-2A>G
|
rs1131691062
|
|
NM_003001.5(SDHC):c.223G>C (p.Gly75Arg)
|
rs867966048
|
|
NM_003001.5(SDHC):c.241+1G>A
|
rs748440817
|
|
NM_003001.5(SDHC):c.241+1G>T
|
|
|
NM_003001.5(SDHC):c.242-2A>G
|
|
|
NM_003001.5(SDHC):c.452C>A (p.Ser151Tyr)
|
rs1571899020
|
|
NM_003001.5(SDHC):c.452_455delinsATGA (p.Ser151_Gly152delinsTyrGlu)
|
|
|
NM_003001.5(SDHC):c.455G>A (p.Gly152Glu)
|
rs1060501386
|
|
NM_003001.5(SDHC):c.497T>G (p.Leu166Arg)
|
rs1571899223
|
|
NM_003001.5(SDHC):c.77+1G>A
|
rs1558164647
|
|
NM_003001.5(SDHC):c.78-1G>T
|
rs786202200
|
|
NM_003002.4(SDHD):c.148C>G (p.His50Asp)
|
rs779249550
|
|
NM_003002.4(SDHD):c.209G>C (p.Arg70Thr)
|
rs755047928
|
|
NM_003002.4(SDHD):c.209G>T (p.Arg70Met)
|
rs755047928
|
|
NM_003002.4(SDHD):c.213_215del (p.Val72del)
|
rs1555186992
|
|
NM_003002.4(SDHD):c.275A>T (p.Asp92Val)
|
rs786205436
|
|
NM_003002.4(SDHD):c.278_280del (p.Tyr93del)
|
rs121908983
|
|
NM_003002.4(SDHD):c.278_280dup (p.Tyr93dup)
|
rs121908983
|
|
NM_003002.4(SDHD):c.305A>G (p.His102Arg)
|
rs104894302
|
|
NM_003002.4(SDHD):c.317G>A (p.Gly106Asp)
|
rs1555187574
|
|
NM_003002.4(SDHD):c.317G>T (p.Gly106Val)
|
rs1555187574
|
|
NM_003002.4(SDHD):c.320T>C (p.Leu107Pro)
|
|
|
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)
|
rs876658477
|
|
NM_003002.4(SDHD):c.326_327del (p.Gln109fs)
|
rs1592786159
|
|
NM_003002.4(SDHD):c.340T>A (p.Tyr114Asn)
|
rs876659276
|
|
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)
|
rs786203932
|
|
NM_003002.4(SDHD):c.430_435del (p.Tyr144_His145del)
|
|
|
NM_003002.4(SDHD):c.443_444delinsTT (p.Gly148Val)
|
rs1555187635
|
|
NM_003002.4(SDHD):c.53-7_53-3del
|
rs1865650219
|
|
NM_003072.5(SMARCA4):c.102_114dup (p.Ala39fs)
|
|
|
NM_003072.5(SMARCA4):c.222+1G>T
|
|
|
NM_003072.5(SMARCA4):c.2275-1G>C
|
|
|
NM_003072.5(SMARCA4):c.2438+1G>C
|
|
|
NM_003072.5(SMARCA4):c.2438+1G>T
|
rs1555774786
|
|
NM_003072.5(SMARCA4):c.2441C>T (p.Thr814Met)
|
rs2089620653
|
|
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val)
|
rs2146416371
|
|
NM_003072.5(SMARCA4):c.2859+1G>C
|
rs797044856
|
|
NM_003072.5(SMARCA4):c.3546+1G>A
|
rs2146603666
|
|
NM_003072.5(SMARCA4):c.355+1G>A
|
|
|
NM_003072.5(SMARCA4):c.355+2T>G
|
rs1599942345
|
|
NM_003072.5(SMARCA4):c.3774+2T>A
|
rs1475054297
|
|
NM_003072.5(SMARCA4):c.3951+2T>C
|
rs1555785056
|
|
NM_003072.5(SMARCA4):c.4243C>T (p.Arg1415Ter)
|
rs878854224
|
|
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu)
|
rs779769475
|
|
NM_003073.5(SMARCB1):c.41C>A (p.Pro14His)
|
|
|
NM_003073.5(SMARCB1):c.934_981del (p.Ala312_Ala327del)
|
rs1601433521
|
|
NM_003073.5(SMARCB1):c.986+2T>G
|
|
|
NM_003079.5(SMARCE1):c.238-2A>G
|
|
|
NM_003079.5(SMARCE1):c.816+1del
|
|
|
NM_003079.5(SMARCE1):c.959del (p.Pro320fs)
|
|
|
NM_003924.4(PHOX2B):c.208dup (p.Leu70fs)
|
|
|
NM_003924.4(PHOX2B):c.295C>T (p.Arg99Trp)
|
|
|
NM_003924.4(PHOX2B):c.299G>T (p.Arg100Leu)
|
rs104893855
|
|
NM_003924.4(PHOX2B):c.429+1G>A
|
|
|
NM_003924.4(PHOX2B):c.429+1G>T
|
|
|
NM_003924.4(PHOX2B):c.42C>A (p.Tyr14Ter)
|
|
|
NM_003924.4(PHOX2B):c.774_776GGC[3]AGCGGCAGCGGAGGC[1] (p.Ala260_Gly261insAlaAlaAlaAlaGluAlaAla)
|
|
|
NM_003977.4(AIP):c.811C>T (p.Arg271Trp)
|
rs267606579
|
|
NM_003977.4(AIP):c.919dup (p.Arg307fs)
|
rs267606589
|
|
NM_004064.5(CDKN1B):c.21dup (p.Asn8Ter)
|
rs2136355372
|
|
NM_004168.4(SDHA):c.1001_1064+5dup
|
|
|
NM_004168.4(SDHA):c.1064+1G>T
|
rs1579402807
|
|
NM_004168.4(SDHA):c.1064+2T>A
|
rs1553999072
|
|
NM_004168.4(SDHA):c.1261-2A>G
|
rs1579409293
|
|
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu)
|
rs1296066077
|
|
NM_004168.4(SDHA):c.1351C>A (p.Arg451Ser)
|
rs1553999752
|
|
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys)
|
rs1553999752
|
|
NM_004168.4(SDHA):c.1432+1_1432+2delinsAG
|
rs1579410180
|
|
NM_004168.4(SDHA):c.151-1G>C
|
rs1458851277
|
|
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val)
|
rs137852767
|
|
NM_004168.4(SDHA):c.1664-2A>G
|
rs2126633124
|
|
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln)
|
rs763766162
|
|
NM_004168.4(SDHA):c.1794+1G>A
|
rs876659595
|
|
NM_004168.4(SDHA):c.1795-1G>T
|
rs778516878
|
|
NM_004168.4(SDHA):c.1832del (p.Gln611fs)
|
rs1554002451
|
|
NM_004168.4(SDHA):c.1848del (p.Lys616fs)
|
|
|
NM_004168.4(SDHA):c.1879del (p.Leu627fs)
|
|
|
NM_004168.4(SDHA):c.1909-1G>A
|
rs1159597886
|
|
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg)
|
rs1553997377
|
|
NM_004168.4(SDHA):c.308_309inv (p.Ala103Val)
|
|
|
NM_004168.4(SDHA):c.313-1G>A
|
|
|
NM_004168.4(SDHA):c.313-2A>C
|
|
|
NM_004168.4(SDHA):c.456+1G>A
|
rs1579384604
|
|
NM_004168.4(SDHA):c.456+1G>T
|
rs1579384604
|
|
NM_004168.4(SDHA):c.622-2A>T
|
|
|
NM_004168.4(SDHA):c.63+1G>A
|
|
|
NM_004168.4(SDHA):c.63+2del
|
rs1579369969
|
|
NM_004168.4(SDHA):c.64-2A>G
|
rs762456298
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
NM_004168.4(SDHA):c.940G>A (p.Glu314Lys)
|
rs1337704280
|
|
NM_004329.3(BMPR1A):c.1013C>A (p.Ala338Asp)
|
rs199476086
|
|
NM_004329.3(BMPR1A):c.1021G>T (p.Gly341Cys)
|
rs1554891077
|
|
NM_004329.3(BMPR1A):c.1036C>G (p.His346Asp)
|
|
|
NM_004329.3(BMPR1A):c.1037A>G (p.His346Arg)
|
rs587782536
|
|
NM_004329.3(BMPR1A):c.1166+731A>G
|
|
|
NM_004329.3(BMPR1A):c.1167-1G>A
|
rs1589292553
|
|
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr)
|
rs199476089
|
|
NM_004329.3(BMPR1A):c.1409T>G (p.Met470Arg)
|
|
|
NM_004329.3(BMPR1A):c.1438C>G (p.Arg480Gly)
|
|
|
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp)
|
rs876658515
|
|
NM_004329.3(BMPR1A):c.1473+1G>A
|
rs1589293533
|
|
NM_004329.3(BMPR1A):c.1473+1G>T
|
|
|
NM_004329.3(BMPR1A):c.1474-2A>G
|
rs587781407
|
|
NM_004329.3(BMPR1A):c.1508G>A (p.Cys503Tyr)
|
rs869312790
|
|
NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile)
|
rs1064793490
|
|
NM_004329.3(BMPR1A):c.245G>T (p.Cys82Phe)
|
rs1554888310
|
|
NM_004329.3(BMPR1A):c.295G>C (p.Gly99Arg)
|
|
|
NM_004329.3(BMPR1A):c.299G>A (p.Cys100Tyr)
|
|
|
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys)
|
rs587782494
|
|
NM_004329.3(BMPR1A):c.431-3C>G
|
rs876659613
|
|
NM_004329.3(BMPR1A):c.531-1G>T
|
rs1589288524
|
|
NM_004329.3(BMPR1A):c.676-1G>C
|
rs1554890734
|
|
NM_004329.3(BMPR1A):c.67G>A (p.Gly23Arg)
|
rs1131691171
|
|
NM_004329.3(BMPR1A):c.869-9A>G
|
rs2133588734
|
|
NM_004360.5(CDH1):c.1009-1G>C
|
rs1597894632
|
|
NM_004360.5(CDH1):c.1137+2T>C
|
rs786202817
|
|
NM_004360.5(CDH1):c.1553_1565+39del
|
rs1555516191
|
|
NM_004360.5(CDH1):c.1565+1del
|
rs1064795267
|
|
NM_004360.5(CDH1):c.1565+5G>A
|
rs786201861
|
|
NM_004360.5(CDH1):c.1566-2A>G
|
rs1555516520
|
|
NM_004360.5(CDH1):c.1613A>T (p.Asp538Val)
|
rs863224726
|
|
NM_004360.5(CDH1):c.1703C>G (p.Thr568Arg)
|
rs786202712
|
|
NM_004360.5(CDH1):c.1711+1G>C
|
rs886041161
|
|
NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser)
|
rs786202290
|
|
NM_004360.5(CDH1):c.1936+2T>C
|
|
|
NM_004360.5(CDH1):c.1936+5G>A
|
rs1567512631
|
|
NM_004360.5(CDH1):c.2165-2A>G
|
rs1596970624
|
|
NM_004360.5(CDH1):c.2196G>C (p.Arg732=)
|
|
|
NM_004360.5(CDH1):c.2272G>A (p.Glu758Lys)
|
rs786202785
|
|
NM_004360.5(CDH1):c.2295+1G>A
|
|
|
NM_004360.5(CDH1):c.2295+1G>C
|
rs1596971108
|
|
NM_004360.5(CDH1):c.2295G>A (p.Gln765=)
|
rs1961383748
|
|
NM_004360.5(CDH1):c.2296-3A>G
|
rs113067020
|
|
NM_004360.5(CDH1):c.2416G>T (p.Glu806Ter)
|
|
|
NM_004360.5(CDH1):c.2436del (p.Asp812fs)
|
|
|
NM_004360.5(CDH1):c.2439+5_2439+8del
|
rs587782810
|
|
NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter)
|
rs1555518211
|
|
NM_004360.5(CDH1):c.2474dup (p.Pro826fs)
|
rs1555518221
|
|
NM_004360.5(CDH1):c.2480dup (p.Tyr827Ter)
|
rs1596976243
|
|
NM_004360.5(CDH1):c.2490dup (p.Leu831fs)
|
rs1131690822
|
|
NM_004360.5(CDH1):c.2506G>T (p.Glu836Ter)
|
rs1555518239
|
|
NM_004360.5(CDH1):c.48G>C (p.Gln16His)
|
rs749591910
|
|
NM_004360.5(CDH1):c.532-1G>C
|
rs771085839
|
|
NM_004360.5(CDH1):c.635G>T (p.Gly212Val)
|
rs1555515276
|
|
NM_004360.5(CDH1):c.687+2T>C
|
rs1555515297
|
|
NM_004360.5(CDH1):c.831A>G (p.Pro277=)
|
|
|
NM_004360.5(CDH1):c.833-9C>G
|
rs878854698
|
|
NM_004360.5(CDH1):c.944A>G (p.Asn315Ser)
|
|
|
NM_004655.4(AXIN2):c.1059+1G>C
|
|
|
NM_004655.4(AXIN2):c.1712+1G>T
|
|
|
NM_004655.4(AXIN2):c.1713-1G>A
|
rs1309148182
|
|
NM_004655.4(AXIN2):c.2205_2206dup (p.Pro736fs)
|
|
|
NM_004655.4(AXIN2):c.2309del (p.Phe770fs)
|
rs1299440644
|
|
NM_004656.4(BAP1):c.1117-1G>A
|
|
|
NM_004656.4(BAP1):c.118C>T (p.Gln40Ter)
|
rs1553646284
|
|
NM_004656.4(BAP1):c.1251-1G>A
|
rs1578221396
|
|
NM_004656.4(BAP1):c.1251-2A>G
|
rs2153226773
|
|
NM_004656.4(BAP1):c.1708C>G (p.Leu570Val)
|
|
|
NM_004656.4(BAP1):c.1730-2A>G
|
rs2153226523
|
|
NM_004656.4(BAP1):c.1A>T (p.Met1Leu)
|
|
|
NM_004656.4(BAP1):c.2056+1G>C
|
rs1578218644
|
|
NM_004656.4(BAP1):c.2057-2A>G
|
rs587776878
|
|
NM_004656.4(BAP1):c.249_255+15delinsAGACC
|
|
|
NM_004656.4(BAP1):c.38-1G>A
|
rs1553646367
|
|
NM_004656.4(BAP1):c.3G>C (p.Met1Ile)
|
|
|
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp)
|
rs910211860
|
|
NM_004656.4(BAP1):c.553G>A (p.Gly185Arg)
|
rs2153227788
|
|
NM_004656.4(BAP1):c.580+1G>T
|
rs1553645785
|
|
NM_004656.4(BAP1):c.581-1G>T
|
rs1553645729
|
|
NM_004656.4(BAP1):c.59_67+1del
|
|
|
NM_004656.4(BAP1):c.606G>C (p.Trp202Cys)
|
|
|
NM_004656.4(BAP1):c.606G>T (p.Trp202Cys)
|
rs868339867
|
|
NM_004656.4(BAP1):c.659+1G>T
|
|
|
NM_004656.4(BAP1):c.659+1del
|
rs1064795667
|
|
NM_004656.4(BAP1):c.659+3A>C
|
rs878854741
|
|
NM_004656.4(BAP1):c.660-2A>G
|
rs1559589809
|
|
NM_004656.4(BAP1):c.68-2_68-1insTTCCTTTCCTTGACACCTTAAC
|
rs1064792988
|
|
NM_004656.4(BAP1):c.745_783+57delinsTGG
|
|
|
NM_005359.6(SMAD4):c.1308+1G>T
|
rs587781618
|
|
NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly)
|
rs281875324
|
|
NM_005431.2(XRCC2):c.109dup (p.Ser37fs)
|
rs1213272601
|
|
NM_005431.2(XRCC2):c.122-1G>T
|
rs201836415
|
|
NM_005431.2(XRCC2):c.166_167del (p.Glu56fs)
|
|
|
NM_005431.2(XRCC2):c.175del (p.Tyr59fs)
|
|
|
NM_005431.2(XRCC2):c.240_243del (p.Phe80fs)
|
|
|
NM_005431.2(XRCC2):c.2T>C (p.Met1Thr)
|
rs1064793295
|
|
NM_005431.2(XRCC2):c.350del (p.Leu117fs)
|
rs764640893
|
|
NM_005431.2(XRCC2):c.350dup (p.Leu117fs)
|
rs764640893
|
|
NM_005431.2(XRCC2):c.377T>A (p.Leu126Ter)
|
rs1064794088
|
|
NM_005431.2(XRCC2):c.377T>G (p.Leu126Ter)
|
|
|
NM_005431.2(XRCC2):c.395C>A (p.Ser132Ter)
|
|
|
NM_005431.2(XRCC2):c.488dup (p.Glu164fs)
|
|
|
NM_005431.2(XRCC2):c.490_491del (p.Glu164fs)
|
rs1590129487
|
|
NM_005431.2(XRCC2):c.609del (p.Ser204fs)
|
|
|
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer)
|
rs746142129
|
|
NM_005431.2(XRCC2):c.96del (p.Phe32fs)
|
rs730882048
|
|
NM_005591.3:c.14_15insALU
|
|
|
NM_005591.4(MRE11):c.1018-1G>A
|
rs1555012083
|
|
NM_005591.4(MRE11):c.1098+2T>C
|
rs876659343
|
|
NM_005591.4(MRE11):c.1225+1G>A
|
rs876658665
|
|
NM_005591.4(MRE11):c.1225_1225+1delinsCA
|
rs2134999194
|
|
NM_005591.4(MRE11):c.1226-2A>C
|
rs1555009945
|
|
NM_005591.4(MRE11):c.1327-1G>C
|
|
|
NM_005591.4(MRE11):c.1327-2A>G
|
rs878854776
|
|
NM_005591.4(MRE11):c.154-1G>A
|
rs1555017290
|
|
NM_005591.4(MRE11):c.1564-1G>A
|
|
|
NM_005591.4(MRE11):c.1783+1G>A
|
|
|
NM_005591.4(MRE11):c.1784-2A>G
|
rs201572020
|
|
NM_005591.4(MRE11):c.1868-2A>C
|
rs1555002450
|
|
NM_005591.4(MRE11):c.1926+2T>C
|
rs1555002390
|
|
NM_005591.4(MRE11):c.1926+2_1926+5del
|
rs1555002387
|
|
NM_005591.4(MRE11):c.1927-1G>T
|
rs1295485913
|
|
NM_005591.4(MRE11):c.1927-2A>G
|
rs587781822
|
|
NM_005591.4(MRE11):c.1994+1G>C
|
|
|
NM_005591.4(MRE11):c.1995-2A>G
|
rs1591634006
|
|
NM_005591.4(MRE11):c.21-1G>A
|
|
|
NM_005591.4(MRE11):c.21-6_26del
|
rs587780138
|
|
NM_005591.4(MRE11):c.314+2T>C
|
rs1591718826
|
|
NM_005591.4(MRE11):c.3G>T (p.Met1Ile)
|
rs1555018818
|
|
NM_005591.4(MRE11):c.402+2_402+3delinsGGG
|
rs1555015413
|
|
NM_005591.4(MRE11):c.402G>C (p.Gly134=)
|
rs587782669
|
|
NM_005591.4(MRE11):c.403-2A>G
|
|
|
NM_005591.4(MRE11):c.403-2A>T
|
rs2135086294
|
|
NM_005591.4(MRE11):c.47T>G (p.Leu16Ter)
|
|
|
NM_005591.4(MRE11):c.56del (p.Thr19fs)
|
|
|
NM_005591.4(MRE11):c.660-1G>A
|
rs876658917
|
|
NM_005591.4(MRE11):c.845+2T>A
|
rs587781381
|
|
NM_005591.4(MRE11):c.846-1G>T
|
|
|
NM_005591.4(MRE11):c.846-2A>C
|
rs1591693112
|
|
NM_005732.3:c.2291_2292insALU
|
|
|
NM_005732.4(RAD50):c.1245+1G>A
|
rs1561639636
|
|
NM_005732.4(RAD50):c.12_13delinsTT (p.Glu5Ter)
|
|
|
NM_005732.4(RAD50):c.1636-2A>G
|
rs1554098466
|
|
NM_005732.4(RAD50):c.1794-1G>T
|
rs587781742
|
|
NM_005732.4(RAD50):c.1969+1G>A
|
rs587782078
|
|
NM_005732.4(RAD50):c.1970-2A>G
|
rs876660728
|
|
NM_005732.4(RAD50):c.1A>G (p.Met1Val)
|
rs876658212
|
|
NM_005732.4(RAD50):c.2524+1G>T
|
rs1581001575
|
|
NM_005732.4(RAD50):c.2525-1G>T
|
rs1015686770
|
|
NM_005732.4(RAD50):c.263_365+47delinsCAAAAAGAC
|
rs1580985027
|
|
NM_005732.4(RAD50):c.2718+1_2718+5del
|
rs876659158
|
|
NM_005732.4(RAD50):c.2829+5G>C
|
rs1446519890
|
|
NM_005732.4(RAD50):c.2830-2A>C
|
rs1554099356
|
|
NM_005732.4(RAD50):c.2922+1G>A
|
rs1581004749
|
|
NM_005732.4(RAD50):c.3164+1G>A
|
rs786203805
|
|
NM_005732.4(RAD50):c.3164+1G>C
|
rs786203805
|
|
NM_005732.4(RAD50):c.3164+2T>C
|
|
|
NM_005732.4(RAD50):c.3389+1G>A
|
rs762648843
|
|
NM_005732.4(RAD50):c.3389+1G>C
|
rs762648843
|
|
NM_005732.4(RAD50):c.3390-1G>A
|
|
|
NM_005732.4(RAD50):c.3475+1G>A
|
|
|
NM_005732.4(RAD50):c.3475+2T>C
|
rs761168506
|
|
NM_005732.4(RAD50):c.3476-10_3480del
|
rs587782866
|
|
NM_005732.4(RAD50):c.3612_3618+5del
|
rs995265408
|
|
NM_005732.4(RAD50):c.3618+1G>A
|
rs587781925
|
|
NM_005732.4(RAD50):c.3619-2A>G
|
|
|
NM_005732.4(RAD50):c.366-2A>G
|
rs1554097755
|
|
NM_005732.4(RAD50):c.3722_3745delinsGCGTA (p.Asn1241fs)
|
|
|
NM_005732.4(RAD50):c.3753-1G>A
|
rs1554101314
|
|
NM_005732.4(RAD50):c.551+2T>A
|
rs1580987375
|
|
NM_005732.4(RAD50):c.551+2T>C
|
rs1580987375
|
|
NM_005732.4(RAD50):c.552-1G>T
|
|
|
NM_005732.4(RAD50):c.756+2T>G
|
rs764122619
|
|
NM_005732.4(RAD50):c.756_756+2delinsTG
|
rs1554097840
|
|
NM_005732.4(RAD50):c.886-1G>C
|
rs1580992079
|
|
NM_005732.4(RAD50):c.886-4_890delinsCAAATAAA
|
rs1554098191
|
|
NM_006361.6(HOXB13):c.853del (p.Ter285LysextTer?)
|
rs77179853
|
|
NM_007194.3:c.(319+1_320-1)_(846+1_847-1)dup
|
|
|
NM_007194.3:c.(846+1_847-1)_(908+1_909-1)dup
|
|
|
NM_007194.3:c.966_967insSVA
|
|
|
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+2dup
|
|
|
NM_007194.4(CHEK2):c.1096-1G>A
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1096-1G>C
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1096-3_1098del
|
rs876659838
|
|
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys)
|
rs200928781
|
|
NM_007194.4(CHEK2):c.1259+1G>A
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1259+1G>C
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1375+1G>C
|
rs759706360
|
|
NM_007194.4(CHEK2):c.1375+1_1375+2del
|
rs876660801
|
|
NM_007194.4(CHEK2):c.1376-1G>A
|
rs876659287
|
|
NM_007194.4(CHEK2):c.1376-1G>C
|
rs876659287
|
|
NM_007194.4(CHEK2):c.1376-21_1382del
|
|
|
NM_007194.4(CHEK2):c.1376-27C>G
|
|
|
NM_007194.4(CHEK2):c.1376-2A>C
|
|
|
NM_007194.4(CHEK2):c.1376-2A>G
|
rs2145786737
|
|
NM_007194.4(CHEK2):c.1408_1461+209del
|
|
|
NM_007194.4(CHEK2):c.1461+1G>A
|
rs886039629
|
|
NM_007194.4(CHEK2):c.1461+1G>T
|
rs886039629
|
|
NM_007194.4(CHEK2):c.1461+2T>C
|
rs779844113
|
|
NM_007194.4(CHEK2):c.1462-10_1472del
|
|
|
NM_007194.4(CHEK2):c.1462-2A>G
|
rs587782575
|
|
NM_007194.4(CHEK2):c.1476del (p.Arg493fs)
|
|
|
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs)
|
rs1555912044
|
|
NM_007194.4(CHEK2):c.1492del (p.Leu498fs)
|
rs2052245881
|
|
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter)
|
rs587782489
|
|
NM_007194.4(CHEK2):c.1542+3A>G
|
rs1060502722
|
|
NM_007194.4(CHEK2):c.1543-11_1543-2del
|
rs2145739661
|
|
NM_007194.4(CHEK2):c.1543-2A>C
|
rs1160973224
|
|
NM_007194.4(CHEK2):c.1546del (p.Ser516fs)
|
rs1555911636
|
|
NM_007194.4(CHEK2):c.1547del (p.Ser516fs)
|
rs1555911635
|
|
NM_007194.4(CHEK2):c.1558_1559insC (p.Lys520fs)
|
rs876658646
|
|
NM_007194.4(CHEK2):c.319+1G>T
|
rs765080766
|
|
NM_007194.4(CHEK2):c.319+1del
|
|
|
NM_007194.4(CHEK2):c.320-10_375del
|
|
|
NM_007194.4(CHEK2):c.320-1801_592+317dup
|
|
|
NM_007194.4(CHEK2):c.320-1843_592+340dup
|
|
|
NM_007194.4(CHEK2):c.320-1G>C
|
rs864622613
|
|
NM_007194.4(CHEK2):c.320-1G>T
|
rs864622613
|
|
NM_007194.4(CHEK2):c.320-2048_593-1211dup
|
|
|
NM_007194.4(CHEK2):c.401A>G (p.Asp134Gly)
|
rs1404473412
|
|
NM_007194.4(CHEK2):c.444+1G>T
|
rs121908698
|
|
NM_007194.4(CHEK2):c.444+1del
|
rs1064793780
|
|
NM_007194.4(CHEK2):c.444+2T>C
|
rs560596101
|
|
NM_007194.4(CHEK2):c.445-1G>A
|
rs587782830
|
|
NM_007194.4(CHEK2):c.445-1G>C
|
rs587782830
|
|
NM_007194.4(CHEK2):c.445-8_446del
|
rs2146062270
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007194.4(CHEK2):c.592+1G>C
|
rs1601822722
|
|
NM_007194.4(CHEK2):c.592+2T>C
|
rs1601822717
|
|
NM_007194.4(CHEK2):c.592+2T>G
|
|
|
NM_007194.4(CHEK2):c.592G>A (p.Val198Ile)
|
rs1555926708
|
|
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.683+2T>A
|
rs781021132
|
|
NM_007194.4(CHEK2):c.684-1G>A
|
rs1298667185
|
|
NM_007194.4(CHEK2):c.684-1G>T
|
rs1298667185
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
NM_007194.4(CHEK2):c.684-3_684-2del
|
|
|
NM_007194.4(CHEK2):c.792+1G>A
|
rs1555921011
|
|
NM_007194.4(CHEK2):c.793-1G>T
|
rs730881687
|
|
NM_007194.4(CHEK2):c.846+1G>A
|
rs864622149
|
|
NM_007194.4(CHEK2):c.846+1G>T
|
rs864622149
|
|
NM_007194.4(CHEK2):c.846+1_846+2del
|
|
|
NM_007194.4(CHEK2):c.846+2T>C
|
rs1601777275
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007194.4(CHEK2):c.847-14_847-2del
|
rs1293617484
|
|
NM_007194.4(CHEK2):c.847-14_847-2delinsGG
|
rs1555917041
|
|
NM_007194.4(CHEK2):c.847-1G>A
|
rs878854926
|
|
NM_007194.4(CHEK2):c.847-2A>G
|
rs1601753141
|
|
NM_007194.4(CHEK2):c.908+1G>A
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+1G>T
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+1_908+8delinsTT
|
rs1569127917
|
|
NM_007194.4(CHEK2):c.908+2T>G
|
|
|
NM_007194.4(CHEK2):c.908+3A>T
|
rs1601752050
|
|
NM_007194.4(CHEK2):c.908+5G>A
|
rs1064796016
|
|
NM_007194.4(CHEK2):c.909-1G>A
|
rs886039721
|
|
NM_007194.4(CHEK2):c.909-2A>G
|
rs1555915589
|
|
NM_007294.3(BRCA1):c.5193+3_5193+15del
|
rs273901752
|
|
NM_007294.3(BRCA1):c.5408delG
|
|
|
NM_007294.3:c.(134+1_135-1)_(593+1_594-1)dup
|
|
|
NM_007294.3:c.(4986+1_4987-1)_(5074+1_5075-1)dup
|
|
|
NM_007294.3:c.1569_1570insSVA
|
|
|
NM_007294.3:c.2692_2693insALU
|
|
|
NM_007294.4(BRCA1):c.100C>T (p.Pro34Ser)
|
rs1064793357
|
|
NM_007294.4(BRCA1):c.101C>G (p.Pro34Arg)
|
rs786203319
|
|
NM_007294.4(BRCA1):c.101C>T (p.Pro34Leu)
|
rs786203319
|
|
NM_007294.4(BRCA1):c.121C>A (p.His41Asn)
|
rs1060502353
|
|
NM_007294.4(BRCA1):c.121C>T (p.His41Tyr)
|
rs1060502353
|
|
NM_007294.4(BRCA1):c.132C>T (p.Cys44=)
|
rs876658362
|
|
NM_007294.4(BRCA1):c.134+1G>T
|
rs80358043
|
|
NM_007294.4(BRCA1):c.134+3_134+6del
|
rs397508858
|
|
NM_007294.4(BRCA1):c.208_212+22del
|
rs1555597152
|
|
NM_007294.4(BRCA1):c.211A>T (p.Arg71Trp)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.212+1del
|
rs786203526
|
|
NM_007294.4(BRCA1):c.212+2T>C
|
rs80358026
|
|
NM_007294.4(BRCA1):c.212G>T (p.Arg71Met)
|
rs80356913
|
|
NM_007294.4(BRCA1):c.213-7A>G
|
rs2054700180
|
|
NM_007294.4(BRCA1):c.231G>T (p.Thr77=)
|
rs80356847
|
|
NM_007294.4(BRCA1):c.247G>T (p.Val83Phe)
|
rs1060502343
|
|
NM_007294.4(BRCA1):c.284T>C (p.Leu95Pro)
|
rs2054675041
|
|
NM_007294.4(BRCA1):c.286G>C (p.Asp96His)
|
rs80357110
|
|
NM_007294.4(BRCA1):c.302-1G>A
|
rs80358116
|
|
NM_007294.4(BRCA1):c.302-1G>C
|
rs80358116
|
|
NM_007294.4(BRCA1):c.302-1G>T
|
rs80358116
|
|
NM_007294.4(BRCA1):c.302-2A>C
|
rs80358011
|
|
NM_007294.4(BRCA1):c.302-2A>G
|
rs80358011
|
|
NM_007294.4(BRCA1):c.32T>G (p.Val11Gly)
|
rs80357017
|
|
NM_007294.4(BRCA1):c.4097-1G>A
|
rs80358070
|
|
NM_007294.4(BRCA1):c.4097-20_4134del
|
rs2053440925
|
|
NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His)
|
rs80356857
|
|
NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr)
|
rs273900729
|
|
NM_007294.4(BRCA1):c.441+1G>A
|
rs397509172
|
|
NM_007294.4(BRCA1):c.441+1G>C
|
|
|
NM_007294.4(BRCA1):c.441+2T>A
|
rs397509173
|
|
NM_007294.4(BRCA1):c.441+2T>C
|
rs397509173
|
|
NM_007294.4(BRCA1):c.4676-1G>A
|
rs80358008
|
|
NM_007294.4(BRCA1):c.4676-1G>C
|
rs80358008
|
|
NM_007294.4(BRCA1):c.4676-2A>G
|
rs80358096
|
|
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)
|
rs80357390
|
|
NM_007294.4(BRCA1):c.4970T>C (p.Leu1657Pro)
|
rs1597830263
|
|
NM_007294.4(BRCA1):c.4986+4A>T
|
rs80358087
|
|
NM_007294.4(BRCA1):c.4986+6T>G
|
rs80358086
|
|
NM_007294.4(BRCA1):c.4987-1G>C
|
rs730881495
|
|
NM_007294.4(BRCA1):c.4987-2A>C
|
rs397509212
|
|
NM_007294.4(BRCA1):c.4987-2A>G
|
rs397509212
|
|
NM_007294.4(BRCA1):c.4987-3C>A
|
rs397509213
|
|
NM_007294.4(BRCA1):c.4987-5T>A
|
rs397509214
|
|
NM_007294.4(BRCA1):c.4987-6T>A
|
rs2052193063
|
|
NM_007294.4(BRCA1):c.4987-7A>G
|
rs1025136518
|
|
NM_007294.4(BRCA1):c.5003T>C (p.Phe1668Ser)
|
rs1567772408
|
|
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
|
rs80358343
|
|
NM_007294.4(BRCA1):c.5054_5074+3del
|
|
|
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)
|
rs730882166
|
|
NM_007294.4(BRCA1):c.5066T>A (p.Met1689Lys)
|
rs80357061
|
|
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5074+3A>G
|
rs80358181
|
|
NM_007294.4(BRCA1):c.5074+3A>T
|
rs80358181
|
|
NM_007294.4(BRCA1):c.5075-1G>T
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5075-8T>G
|
rs397509221
|
|
NM_007294.4(BRCA1):c.5075A>T (p.Asp1692Val)
|
rs397509222
|
|
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del)
|
rs80358345
|
|
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)
|
rs80356993
|
|
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr)
|
rs397507241
|
|
NM_007294.4(BRCA1):c.5099C>T (p.Thr1700Ile)
|
rs2051927197
|
|
NM_007294.4(BRCA1):c.5104A>C (p.Lys1702Gln)
|
rs2051925024
|
|
NM_007294.4(BRCA1):c.5105A>T (p.Lys1702Ile)
|
rs2051924695
|
|
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys)
|
rs876660071
|
|
NM_007294.4(BRCA1):c.5114T>C (p.Leu1705Pro)
|
rs397507242
|
|
NM_007294.4(BRCA1):c.5116G>A (p.Gly1706Arg)
|
rs886040864
|
|
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)
|
rs80356860
|
|
NM_007294.4(BRCA1):c.5137G>T (p.Val1713Leu)
|
rs1064793309
|
|
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)
|
rs80357132
|
|
NM_007294.4(BRCA1):c.5140G>T (p.Val1714Phe)
|
rs1567769244
|
|
NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys)
|
rs80357222
|
|
NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg)
|
rs80357094
|
|
NM_007294.4(BRCA1):c.5152+4A>G
|
rs397509232
|
|
NM_007294.4(BRCA1):c.5152+5G>T
|
rs80358165
|
|
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly)
|
rs1567769155
|
|
NM_007294.4(BRCA1):c.5153-16_5156delinsAATA
|
rs587781526
|
|
NM_007294.4(BRCA1):c.5153-2A>G
|
rs786202545
|
|
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)
|
rs80357239
|
|
NM_007294.4(BRCA1):c.5156T>G (p.Val1719Gly)
|
rs1247437511
|
|
NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro)
|
rs483353100
|
|
NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5194-2A>C
|
rs80358069
|
|
NM_007294.4(BRCA1):c.5202T>G (p.Phe1734Leu)
|
rs869320780
|
|
NM_007294.4(BRCA1):c.5210GAG[1] (p.Gly1738del)
|
rs80358347
|
|
NM_007294.4(BRCA1):c.5215G>C (p.Asp1739His)
|
rs80357283
|
|
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)
|
rs80357227
|
|
NM_007294.4(BRCA1):c.5217T>G (p.Asp1739Glu)
|
rs80357340
|
|
NM_007294.4(BRCA1):c.5236C>G (p.His1746Asp)
|
rs80357146
|
|
NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg)
|
rs397507245
|
|
NM_007294.4(BRCA1):c.5242G>T (p.Gly1748Cys)
|
rs397507245
|
|
NM_007294.4(BRCA1):c.5252G>C (p.Arg1751Pro)
|
rs80357442
|
|
NM_007294.4(BRCA1):c.5254G>A (p.Ala1752Thr)
|
rs80357074
|
|
NM_007294.4(BRCA1):c.5277+1_5277+6del
|
rs1060502356
|
|
NM_007294.4(BRCA1):c.5277+2T>G
|
rs2051494815
|
|
NM_007294.4(BRCA1):c.5278-2A>G
|
rs397509253
|
|
NM_007294.4(BRCA1):c.5278-2A>T
|
rs397509253
|
|
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser)
|
rs80356905
|
|
NM_007294.4(BRCA1):c.5288G>T (p.Gly1763Val)
|
rs80357007
|
|
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro)
|
rs80357281
|
|
NM_007294.4(BRCA1):c.5323A>G (p.Met1775Val)
|
rs2051198464
|
|
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys)
|
rs41293463
|
|
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn)
|
rs80357112
|
|
NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg)
|
rs80357474
|
|
NM_007294.4(BRCA1):c.5352dup (p.Gln1785fs)
|
rs80357744
|
|
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)
|
rs398122697
|
|
NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys)
|
rs397509271
|
|
NM_007294.4(BRCA1):c.5366C>T (p.Ala1789Val)
|
rs2051085308
|
|
NM_007294.4(BRCA1):c.536_547+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
|
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.5406+5G>A
|
rs80358073
|
|
NM_007294.4(BRCA1):c.5406del (p.Gly1803fs)
|
|
|
NM_007294.4(BRCA1):c.5407-1G>C
|
rs80358029
|
|
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala)
|
rs80357149
|
|
NM_007294.4(BRCA1):c.5426T>A (p.Val1809Asp)
|
rs80357216
|
|
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg)
|
rs80357040
|
|
NM_007294.4(BRCA1):c.5467G>C (p.Ala1823Pro)
|
rs80357212
|
|
NM_007294.4(BRCA1):c.5468-2A>G
|
rs398122699
|
|
NM_007294.4(BRCA1):c.5468-2A>T
|
rs398122699
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
NM_007294.4(BRCA1):c.5503dup (p.Arg1835fs)
|
rs397509291
|
|
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)
|
rs80356959
|
|
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)
|
rs80356959
|
|
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys)
|
rs80356914
|
|
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu)
|
rs80357107
|
|
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser)
|
rs398122702
|
|
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn)
|
rs80357368
|
|
NM_007294.4(BRCA1):c.5522G>C (p.Ser1841Thr)
|
rs80357368
|
|
NM_007294.4(BRCA1):c.5527G>C (p.Ala1843Pro)
|
rs80357019
|
|
NM_007294.4(BRCA1):c.5528C>A (p.Ala1843Glu)
|
rs730881447
|
|
NM_007294.4(BRCA1):c.5545G>T (p.Glu1849Ter)
|
rs2050864747
|
|
NM_007294.4(BRCA1):c.5558A>C (p.Tyr1853Ser)
|
rs80357258
|
|
NM_007294.4(BRCA1):c.5561T>C (p.Leu1854Pro)
|
rs80356996
|
|
NM_007294.4(BRCA1):c.5569del (p.Gln1857fs)
|
rs886039675
|
|
NM_007294.4(BRCA1):c.56A>C (p.Gln19Pro)
|
rs2055725680
|
|
NM_007294.4(BRCA1):c.594_597delTGTG
|
rs797045175
|
|
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)
|
rs80357438
|
|
NM_007294.4(BRCA1):c.671-1G>C
|
rs80358020
|
|
NM_007294.4(BRCA1):c.671-1G>T
|
rs80358020
|
|
NM_007294.4(BRCA1):c.671-2A>G
|
rs80358108
|
|
NM_007294.4(BRCA1):c.74C>T (p.Pro25Leu)
|
rs876660096
|
|
NM_007294.4(BRCA1):c.779A>G (p.Lys260Arg)
|
rs2054049431
|
|
NM_007294.4(BRCA1):c.80G>A (p.Cys27Tyr)
|
rs1064793052
|
|
NM_007294.4(BRCA1):c.80G>T (p.Cys27Phe)
|
rs1064793052
|
|
NM_007294.4(BRCA1):c.81-2A>G
|
rs397509326
|
|
NM_007294.4(BRCA1):c.81-6T>A
|
rs80358179
|
|
NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro)
|
rs80357266
|
|
NM_015450.3(POT1):c.10-2A>C
|
rs1554434788
|
|
NM_015450.3(POT1):c.108T>G (p.Tyr36Ter)
|
|
|
NM_015450.3(POT1):c.1163+1G>A
|
rs1562981766
|
|
NM_015450.3(POT1):c.124+1G>A
|
|
|
NM_015450.3(POT1):c.125-2A>G
|
rs1562997292
|
|
NM_015450.3(POT1):c.126T>G (p.Asp42Glu)
|
rs1554429221
|
|
NM_015450.3(POT1):c.1369+1G>A
|
|
|
NM_015450.3(POT1):c.1369+1G>T
|
|
|
NM_015450.3(POT1):c.1792+1G>A
|
rs1562972354
|
|
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs)
|
rs758673417
|
|
NM_015450.3(POT1):c.1A>G (p.Met1Val)
|
rs1584510207
|
|
NM_015450.3(POT1):c.255+1G>A
|
rs1584777699
|
|
NM_015450.3(POT1):c.255+1G>T
|
rs1584777699
|
|
NM_015450.3(POT1):c.266A>G (p.Tyr89Cys)
|
rs587777472
|
|
NM_015450.3(POT1):c.2dup (p.Met1fs)
|
|
|
NM_015450.3(POT1):c.33_34dup (p.Thr12fs)
|
|
|
NM_015450.3(POT1):c.347C>T (p.Pro116Leu)
|
rs1554426966
|
|
NM_015450.3(POT1):c.349C>T (p.Arg117Cys)
|
rs780936436
|
|
NM_015450.3(POT1):c.79G>C (p.Gly27Arg)
|
rs1584791977
|
|
NM_015450.3(POT1):c.818G>A (p.Arg273Gln)
|
rs587777476
|
|
NM_015450.3(POT1):c.9+1G>A
|
|
|
NM_016169.4(SUFU):c.597+1G>A
|
rs1590062006
|
|
NM_016169.4(SUFU):c.683+5G>A
|
|
|
NM_016169.4(SUFU):c.739_756+12del
|
|
|
NM_016169.4(SUFU):c.911-8C>A
|
|
|
NM_017841.4(SDHAF2):c.233G>A (p.Gly78Glu)
|
rs1590764905
|
|
NM_017841.4(SDHAF2):c.260+1G>A
|
rs749527870
|
|
NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter)
|
rs750979204
|
|
NM_017841.4(SDHAF2):c.357C>G (p.Tyr119Ter)
|
|
|
NM_017849.3:c.498_499insALU
|
|
|
NM_017849.4(TMEM127):c.245-2del
|
|
|
NM_017849.4(TMEM127):c.2T>G (p.Met1Arg)
|
rs1684398953
|
|
NM_017849.4(TMEM127):c.409+1_409+8del
|
|
|
NM_017849.4(TMEM127):c.410-2A>G
|
rs121908826
|
|
NM_017849.4(TMEM127):c.541dup (p.Ala181fs)
|
|
|
NM_017849.4(TMEM127):c.570del (p.Thr191fs)
|
rs1215337884
|
|
NM_017849.4(TMEM127):c.613del (p.Glu205fs)
|
rs1684144086
|
|
NM_020975.6(RET):c.1664T>G (p.Phe555Cys)
|
|
|
NM_020975.6(RET):c.1760-2_1760-1del
|
|
|
NM_020975.6(RET):c.1817A>G (p.Tyr606Cys)
|
rs377767395
|
|
NM_020975.6(RET):c.1888T>A (p.Cys630Ser)
|
|
|
NM_020975.6(RET):c.1947G>A (p.Ser649=)
|
rs377767412
|
|
NM_020975.6(RET):c.2617C>T (p.Arg873Trp)
|
|
|
NM_020975.6(RET):c.2752A>G (p.Met918Val)
|
rs377767442
|
|
NM_024529.5(CDC73):c.1030+1G>A
|
|
|
NM_024529.5(CDC73):c.1067-2A>G
|
|
|
NM_024529.5(CDC73):c.131+1G>A
|
rs587776558
|
|
NM_024529.5(CDC73):c.238-1G>T
|
|
|
NM_024675.3:c.1246_1247insALU
|
|
|
NM_024675.3:c.2098_2099insALU
|
|
|
NM_024675.3:c.2099_2100insALU
|
|
|
NM_024675.3:c.2455_2456insALU
|
|
|
NM_024675.3:c.2913_2914insALU
|
|
|
NM_024675.3:c.3180_3181insALU
|
|
|
NM_024675.4(PALB2):c.108+1_108+2insC
|
rs1597101776
|
|
NM_024675.4(PALB2):c.108+2_108+12delinsCGGC
|
rs1597101736
|
|
NM_024675.4(PALB2):c.109-12T>A
|
rs774949203
|
|
NM_024675.4(PALB2):c.109-2A>C
|
rs730881897
|
|
NM_024675.4(PALB2):c.109-2A>G
|
rs730881897
|
|
NM_024675.4(PALB2):c.1684+1G>A
|
rs1555461148
|
|
NM_024675.4(PALB2):c.1684+1G>T
|
rs1555461148
|
|
NM_024675.4(PALB2):c.1685-1G>C
|
rs1057520645
|
|
NM_024675.4(PALB2):c.1685-2A>C
|
rs754660432
|
|
NM_024675.4(PALB2):c.1685-2A>G
|
rs754660432
|
|
NM_024675.4(PALB2):c.18G>T (p.Gly6=)
|
rs587782462
|
|
NM_024675.4(PALB2):c.1A>C (p.Met1Leu)
|
|
|
NM_024675.4(PALB2):c.1A>G (p.Met1Val)
|
rs879254144
|
|
NM_024675.4(PALB2):c.211+1G>A
|
rs1555462026
|
|
NM_024675.4(PALB2):c.2514+1G>C
|
rs886039729
|
|
NM_024675.4(PALB2):c.2514+1G>T
|
|
|
NM_024675.4(PALB2):c.2515-1G>A
|
rs587776417
|
|
NM_024675.4(PALB2):c.2515-1G>C
|
rs587776417
|
|
NM_024675.4(PALB2):c.2586+1_2586+2delinsTA
|
|
|
NM_024675.4(PALB2):c.2587-1G>C
|
rs761214886
|
|
NM_024675.4(PALB2):c.2587-2A>C
|
rs1060502787
|
|
NM_024675.4(PALB2):c.2748+1G>A
|
rs753153576
|
|
NM_024675.4(PALB2):c.2748+1G>T
|
rs753153576
|
|
NM_024675.4(PALB2):c.2748+2T>C
|
rs1060499821
|
|
NM_024675.4(PALB2):c.2749-2A>C
|
rs1555459747
|
|
NM_024675.4(PALB2):c.2749-2A>G
|
rs1555459747
|
|
NM_024675.4(PALB2):c.2834+1G>A
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+1G>C
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+1G>T
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+2T>C
|
rs864622481
|
|
NM_024675.4(PALB2):c.2835-1G>A
|
rs515726099
|
|
NM_024675.4(PALB2):c.2835-1G>C
|
rs515726099
|
|
NM_024675.4(PALB2):c.2996+1G>T
|
rs886039626
|
|
NM_024675.4(PALB2):c.2996+5G>T
|
rs879254193
|
|
NM_024675.4(PALB2):c.2997-1G>A
|
rs754465466
|
|
NM_024675.4(PALB2):c.2T>C (p.Met1Thr)
|
rs756519825
|
|
NM_024675.4(PALB2):c.2T>G (p.Met1Arg)
|
|
|
NM_024675.4(PALB2):c.3113+1G>A
|
rs1597079557
|
|
NM_024675.4(PALB2):c.3113+1G>C
|
|
|
NM_024675.4(PALB2):c.3113+5G>A
|
rs876659463
|
|
NM_024675.4(PALB2):c.3114-1G>A
|
rs886039619
|
|
NM_024675.4(PALB2):c.3114-554_3166del
|
|
|
NM_024675.4(PALB2):c.31del (p.Cys11fs)
|
|
|
NM_024675.4(PALB2):c.3201+1G>C
|
rs587776423
|
|
NM_024675.4(PALB2):c.3201+1del
|
|
|
NM_024675.4(PALB2):c.3201+3A>C
|
rs876660215
|
|
NM_024675.4(PALB2):c.3202-1G>A
|
rs515726111
|
|
NM_024675.4(PALB2):c.3202-1G>C
|
rs515726111
|
|
NM_024675.4(PALB2):c.3202-2A>C
|
rs1060499827
|
|
NM_024675.4(PALB2):c.3240del (p.Glu1081fs)
|
|
|
NM_024675.4(PALB2):c.3290_3292delinsAT (p.Pro1097fs)
|
|
|
NM_024675.4(PALB2):c.3324C>A (p.Tyr1108Ter)
|
rs1218512317
|
|
NM_024675.4(PALB2):c.3350+2C>G
|
rs1555458171
|
|
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)
|
rs876659859
|
|
NM_024675.4(PALB2):c.3350_3350+1delinsC
|
|
|
NM_024675.4(PALB2):c.3351-1G>C
|
rs1597062406
|
|
NM_024675.4(PALB2):c.3351-2A>G
|
rs1060502764
|
|
NM_024675.4(PALB2):c.3351-2A>T
|
|
|
NM_024675.4(PALB2):c.3448_3450delinsTT (p.Leu1150fs)
|
|
|
NM_024675.4(PALB2):c.3483del (p.Phe1161fs)
|
rs2142252781
|
|
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter)
|
rs773829275
|
|
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)
|
rs587776428
|
|
NM_024675.4(PALB2):c.3G>A (p.Met1Ile)
|
rs1057517585
|
|
NM_024675.4(PALB2):c.48+1G>A
|
rs515726118
|
|
NM_024675.4(PALB2):c.48+1G>C
|
rs515726118
|
|
NM_024675.4(PALB2):c.48+1del
|
rs1060499829
|
|
NM_024675.4(PALB2):c.48+2T>G
|
rs876659679
|
|
NM_024675.4(PALB2):c.48G>A (p.Lys16=)
|
rs587776405
|
|
NM_024675.4(PALB2):c.49-1G>A
|
rs1440838364
|
|
NM_024675.4(PALB2):c.49-2A>T
|
rs786203245
|
|
NM_024675.4(PALB2):c.9_48+118del
|
|
|
NM_032043.2:c.(627+1_628-1)_(1473+1_1474-1)dup
|
|
|
NM_032043.2:c.577_578insALU
|
|
|
NM_032043.3(BRIP1):c.1140+3del
|
rs2145331108
|
|
NM_032043.3(BRIP1):c.1140+6T>C
|
|
|
NM_032043.3(BRIP1):c.1141-2A>G
|
|
|
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp)
|
rs1603342316
|
|
NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)
|
|
|
NM_032043.3(BRIP1):c.128T>A (p.Leu43Ter)
|
|
|
NM_032043.3(BRIP1):c.1340+1G>A
|
rs1555607022
|
|
NM_032043.3(BRIP1):c.1340+2_1340+5del
|
rs2077945546
|
|
NM_032043.3(BRIP1):c.1341-3C>G
|
rs864622597
|
|
NM_032043.3(BRIP1):c.1473+1G>A
|
rs748274524
|
|
NM_032043.3(BRIP1):c.1474-1G>A
|
rs1555603638
|
|
NM_032043.3(BRIP1):c.1474-2A>G
|
rs1603337052
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
NM_032043.3(BRIP1):c.1629-1G>T
|
rs1060501757
|
|
NM_032043.3(BRIP1):c.1629-2A>G
|
|
|
NM_032043.3(BRIP1):c.1794+2T>A
|
|
|
NM_032043.3(BRIP1):c.1795-1G>A
|
rs1368457771
|
|
NM_032043.3(BRIP1):c.1936-1G>A
|
rs1555601204
|
|
NM_032043.3(BRIP1):c.1936-2A>G
|
rs878855143
|
|
NM_032043.3(BRIP1):c.2097+1G>C
|
rs786202941
|
|
NM_032043.3(BRIP1):c.2098-1G>T
|
|
|
NM_032043.3(BRIP1):c.2098-3_2098-1delinsAA
|
|
|
NM_032043.3(BRIP1):c.2258-1G>A
|
rs1064793887
|
|
NM_032043.3(BRIP1):c.2370_2379+20del
|
rs2144674380
|
|
NM_032043.3(BRIP1):c.2379+1G>T
|
rs1555590286
|
|
NM_032043.3(BRIP1):c.2492+1G>A
|
|
|
NM_032043.3(BRIP1):c.2492+1del
|
rs1603293314
|
|
NM_032043.3(BRIP1):c.2492_2492+5del
|
rs1603293306
|
|
NM_032043.3(BRIP1):c.2493-1G>A
|
rs786203451
|
|
NM_032043.3(BRIP1):c.2493-1G>C
|
rs786203451
|
|
NM_032043.3(BRIP1):c.2575+1G>C
|
|
|
NM_032043.3(BRIP1):c.2575+1G>T
|
rs1567737536
|
|
NM_032043.3(BRIP1):c.2575+2dup
|
rs1555574711
|
|
NM_032043.3(BRIP1):c.2576-2A>G
|
rs869312763
|
|
NM_032043.3(BRIP1):c.2859del (p.Asn955fs)
|
|
|
NM_032043.3(BRIP1):c.2905+1G>A
|
rs876660203
|
|
NM_032043.3(BRIP1):c.2905+1G>C
|
|
|
NM_032043.3(BRIP1):c.2905+1G>T
|
rs876660203
|
|
NM_032043.3(BRIP1):c.2905+2T>C
|
rs1603276502
|
|
NM_032043.3(BRIP1):c.2905+3A>T
|
|
|
NM_032043.3(BRIP1):c.2986C>T (p.Gln996Ter)
|
|
|
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs)
|
rs1342519012
|
|
NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter)
|
rs1603275526
|
|
NM_032043.3(BRIP1):c.3173_3179delinsCTC (p.Leu1058fs)
|
rs1555572799
|
|
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)
|
rs748598593
|
|
NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter)
|
rs777213170
|
|
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer)
|
rs1603275367
|
|
NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter)
|
rs786202927
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
|
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs)
|
rs771654971
|
|
NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter)
|
rs1060501774
|
|
NM_032043.3(BRIP1):c.3358_3359del (p.Asp1120fs)
|
rs1603275179
|
|
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs)
|
rs1426528935
|
|
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)
|
rs778664039
|
|
NM_032043.3(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer)
|
rs876660100
|
|
NM_032043.3(BRIP1):c.3440dup (p.Asn1147fs)
|
rs753683450
|
|
NM_032043.3(BRIP1):c.379+1del
|
|
|
NM_032043.3(BRIP1):c.507+1G>T
|
rs2145761239
|
|
NM_032043.3(BRIP1):c.507G>A (p.Gln169=)
|
rs876660937
|
|
NM_032043.3(BRIP1):c.507G>C (p.Gln169His)
|
|
|
NM_032043.3(BRIP1):c.507G>T (p.Gln169His)
|
rs876660937
|
|
NM_032043.3(BRIP1):c.508-1G>C
|
rs864622277
|
|
NM_032043.3(BRIP1):c.508-1G>T
|
rs864622277
|
|
NM_032043.3(BRIP1):c.508-2A>G
|
rs876659707
|
|
NM_032043.3(BRIP1):c.508-2A>T
|
rs876659707
|
|
NM_032043.3(BRIP1):c.627+1G>A
|
rs587780833
|
|
NM_032043.3(BRIP1):c.627+1G>T
|
rs587780833
|
|
NM_032043.3(BRIP1):c.628-3C>G
|
|
|
NM_032043.3(BRIP1):c.628-5_629del
|
rs1555609402
|
|
NM_032043.3(BRIP1):c.727A>G (p.Ile243Val)
|
|
|
NM_032043.3(BRIP1):c.72del (p.Gln25fs)
|
|
|
NM_032043.3(BRIP1):c.918+2T>C
|
rs1603346587
|
|
NM_032043.3(BRIP1):c.93+1G>A
|
rs587782047
|
|
NM_032043.3(BRIP1):c.93+1G>T
|
rs587782047
|
|
NM_032043.3(BRIP1):c.93+2del
|
|
|
NM_032043.3(BRIP1):c.93+2dup
|
rs786202125
|
|
NM_032043.3(BRIP1):c.93+4_93+7del
|
rs1224034842
|
|
NM_032043.3(BRIP1):c.93+5G>A
|
rs730881629
|
|
NM_032043.3(BRIP1):c.93+5G>C
|
rs730881629
|
|
NM_032043.3(BRIP1):c.94-2A>G
|
|
|
NM_058195.4(CDKN2A):c.193+1del
|
rs1820525500
|
|
NM_058195.4(CDKN2A):c.193+2T>C
|
rs2131147945
|
|
NM_058195.4(CDKN2A):c.193+5G>A
|
rs587782083
|
|
NM_058216.1:c.371_372insALU
|
|
|
NM_058216.3(RAD51C):c.1004_1005delinsAA (p.Cys335Ter)
|
rs1598535096
|
|
NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter)
|
rs1555605103
|
|
NM_058216.3(RAD51C):c.1026+5_1026+7del
|
rs587781410
|
|
NM_058216.3(RAD51C):c.126dup (p.Pro43fs)
|
|
|
NM_058216.3(RAD51C):c.145+1G>A
|
rs757128712
|
|
NM_058216.3(RAD51C):c.145+2T>G
|
rs1057517641
|
|
NM_058216.3(RAD51C):c.146-1G>T
|
rs1555593458
|
|
NM_058216.3(RAD51C):c.146-2A>G
|
rs1555593457
|
|
NM_058216.3(RAD51C):c.146-4_146-2del
|
rs1555593450
|
|
NM_058216.3(RAD51C):c.404+1G>A
|
rs1555593939
|
|
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)
|
rs767796996
|
|
NM_058216.3(RAD51C):c.405-1G>C
|
rs587782036
|
|
NM_058216.3(RAD51C):c.50del (p.Phe17fs)
|
rs1555591851
|
|
NM_058216.3(RAD51C):c.570_571+16del
|
|
|
NM_058216.3(RAD51C):c.571+1del
|
rs1327086366
|
|
NM_058216.3(RAD51C):c.571G>T (p.Glu191Ter)
|
|
|
NM_058216.3(RAD51C):c.572-1G>C
|
rs1413872299
|
|
NM_058216.3(RAD51C):c.572-3C>G
|
rs1567794089
|
|
NM_058216.3(RAD51C):c.705+1G>A
|
rs876658644
|
|
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn)
|
rs755849719
|
|
NM_058216.3(RAD51C):c.706-1G>T
|
rs1555599090
|
|
NM_058216.3(RAD51C):c.706-2A>C
|
rs587780259
|
|
NM_058216.3(RAD51C):c.837+1G>C
|
rs760235677
|
|
NM_058216.3(RAD51C):c.837+1G>T
|
rs760235677
|
|
NM_058216.3(RAD51C):c.837+1del
|
rs1555599288
|
|
NM_058216.3(RAD51C):c.837+2T>C
|
rs1567799943
|
|
NM_058216.3(RAD51C):c.837+4_837+7del
|
rs727503760
|
|
NM_058216.3(RAD51C):c.838-2A>G
|
rs748589398
|
|
NM_058216.3(RAD51C):c.904+1G>A
|
rs1555602159
|
|
NM_058216.3(RAD51C):c.904+1G>T
|
rs1555602159
|
|
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg)
|
rs1555602158
|
|
NM_058216.3(RAD51C):c.905-3_906del
|
rs730881941
|
|
NM_058216.3(RAD51C):c.917dup (p.His307fs)
|
|
|
NM_058216.3(RAD51C):c.965+1G>A
|
rs730881933
|
|
NM_058216.3(RAD51C):c.965+5G>A
|
rs774586107
|
|
NM_058216.3(RAD51C):c.97_98del (p.Gln33fs)
|
rs587780840
|
|
NM_058216.3(RAD51C):c.981C>G (p.Tyr327Ter)
|
|
|
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter)
|
rs1555605074
|
|
NM_144997.7(FLCN):c.1176+1G>A
|
|
|
NM_144997.7(FLCN):c.1176+1G>C
|
rs1555607929
|
|
NM_144997.7(FLCN):c.1176+1G>T
|
rs1555607929
|
|
NM_144997.7(FLCN):c.1300+5G>C
|
rs746264578
|
|
NM_144997.7(FLCN):c.1301-1G>A
|
|
|
NM_144997.7(FLCN):c.1301-2A>C
|
|
|
NM_144997.7(FLCN):c.1301-2A>G
|
rs1555607296
|
|
NM_144997.7(FLCN):c.1432+1G>T
|
|
|
NM_144997.7(FLCN):c.1498del (p.Val500fs)
|
rs1597578776
|
|
NM_144997.7(FLCN):c.1615dup (p.Leu539fs)
|
|
|
NM_144997.7(FLCN):c.1616dup (p.Ala541fs)
|
rs2144810362
|
|
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)
|
rs1131690833
|
|
NM_144997.7(FLCN):c.1_18delinsTGTTGCAG (p.Met1fs)
|
|
|
NM_144997.7(FLCN):c.397-1G>T
|
rs2144983515
|
|
NM_144997.7(FLCN):c.397-2A>G
|
|
|
NM_144997.7(FLCN):c.761T>C (p.Leu254Pro)
|
|
|
NM_144997.7(FLCN):c.767CCT[1] (p.Ser257del)
|
|
|
NM_144997.7(FLCN):c.780-2A>G
|
rs1555609514
|
|
NM_144997.7(FLCN):c.871+132G>T
|
|
|
NM_144997.7(FLCN):c.91C>T (p.Gln31Ter)
|
rs1597618162
|
|
NM_177438.3(DICER1):c.1376+1G>A
|
rs886037670
|
|
NM_177438.3(DICER1):c.1753-9A>G
|
rs1595407392
|
|
NM_177438.3(DICER1):c.2041-2A>G
|
rs1131691204
|
|
NM_177438.3(DICER1):c.2041-5_2041-2del
|
rs1595394092
|
|
NM_177438.3(DICER1):c.2041-7_2041-2delinsAT
|
|
|
NM_177438.3(DICER1):c.2256+5G>T
|
|
|
NM_177438.3(DICER1):c.2257-7A>G
|
rs1891665514
|
|
NM_177438.3(DICER1):c.2436+1G>T
|
rs1595381795
|
|
NM_177438.3(DICER1):c.2436+1dup
|
|
|
NM_177438.3(DICER1):c.2650+1G>A
|
rs886037691
|
|
NM_177438.3(DICER1):c.2988-2A>G
|
rs1595372950
|
|
NM_177438.3(DICER1):c.4050+1G>A
|
rs875989783
|
|
NM_177438.3(DICER1):c.4051-1G>A
|
rs1595354013
|
|
NM_177438.3(DICER1):c.5123G>A (p.Gly1708Glu)
|
rs886037724
|
|
NM_177438.3(DICER1):c.5364+1G>A
|
rs1131691227
|
|
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu)
|
rs1060503625
|
|
NM_177438.3(DICER1):c.5465A>G (p.Asp1822Gly)
|
rs886037729
|
|
PALB2:c.2515-1G>T
|
rs587776417
|
|
Single allele
|
|
|