NM_017849.4(TMEM127):c.268G>A (p.Val90Met)
|
rs121908823
|
0.00264
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn)
|
rs121908819
|
0.00073
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_004168.4(SDHA):c.1A>G (p.Met1Val)
|
rs1061517
|
0.00013
|
NM_004366.6(CLCN2):c.898+1G>A
|
rs141074059
|
0.00009
|
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp)
|
rs121908824
|
0.00006
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)
|
rs570278423
|
0.00004
|
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)
|
rs139881415
|
0.00004
|
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)
|
rs121908820
|
0.00004
|
NM_017849.4(TMEM127):c.245-1G>C
|
rs121908821
|
0.00004
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
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_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)
|
rs201330912
|
0.00002
|
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)
|
rs11554273
|
0.00001
|
NM_000516.7(GNAS):c.602G>A (p.Arg201His)
|
rs121913495
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)
|
rs1057519996
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu)
|
rs761102084
|
0.00001
|
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser)
|
rs1085307471
|
0.00001
|
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)
|
rs772551056
|
0.00001
|
NM_003000.3(SDHB):c.143A>T (p.Asp48Val)
|
rs202101384
|
0.00001
|
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)
|
rs200245469
|
0.00001
|
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)
|
rs138996609
|
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_003002.4(SDHD):c.53-1G>T
|
rs1291507545
|
0.00001
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
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.1663+1G>T
|
rs766667009
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs)
|
rs750865703
|
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.778G>A (p.Gly260Arg)
|
rs940845256
|
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_005896.4(IDH1):c.394C>T (p.Arg132Cys)
|
rs121913499
|
0.00001
|
NM_005896.4(IDH1):c.395G>A (p.Arg132His)
|
rs121913500
|
0.00001
|
NM_012433.4(SF3B1):c.1873C>G (p.Arg625Gly)
|
rs775623976
|
0.00001
|
NM_017841.4(SDHAF2):c.260+3A>G
|
rs1445986287
|
0.00001
|
NM_017841.4(SDHAF2):c.37-1G>C
|
rs761956866
|
0.00001
|
NM_017841.4(SDHAF2):c.371-2A>G
|
rs375280597
|
0.00001
|
NM_017849.4(TMEM127):c.158G>C (p.Trp53Ser)
|
rs121908818
|
0.00001
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
NC_000001.10:g.(?_161310384)_(161310445_?)dup
|
|
|
NC_000001.10:g.(?_161326457)_(161326640_?)dup
|
|
|
NC_000001.10:g.(?_17349093)_(17350579_?)del
|
|
|
NC_000001.10:g.(?_17349097)_(17359646_?)dup
|
|
|
NC_000001.10:g.(?_17354234)_(17359650_?)dup
|
|
|
NC_000001.10:g.(?_17359545)_(17359650_?)dup
|
|
|
NC_000001.10:g.(?_17371256)_(17371383_?)dup
|
|
|
NC_000001.11:g.(?_161340584)_(161340665_?)dup
|
|
|
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu)
|
rs121913495
|
|
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)
|
rs121912662
|
|
NM_000546.6(TP53):c.1140del (p.His380fs)
|
rs1555524108
|
|
NM_000546.6(TP53):c.245_260del (p.Pro82fs)
|
|
|
NM_000546.6(TP53):c.373A>C (p.Thr125Pro)
|
rs1057520003
|
|
NM_000546.6(TP53):c.374C>A (p.Thr125Lys)
|
rs786201057
|
|
NM_000546.6(TP53):c.374C>G (p.Thr125Arg)
|
rs786201057
|
|
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
|
rs730881999
|
|
NM_000546.6(TP53):c.388C>G (p.Leu130Val)
|
rs863224683
|
|
NM_000546.6(TP53):c.394A>C (p.Lys132Gln)
|
rs747342068
|
|
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)
|
rs747342068
|
|
NM_000546.6(TP53):c.395A>C (p.Lys132Thr)
|
rs1057519996
|
|
NM_000546.6(TP53):c.395A>T (p.Lys132Met)
|
rs1057519996
|
|
NM_000546.6(TP53):c.396G>C (p.Lys132Asn)
|
rs866775781
|
|
NM_000546.6(TP53):c.403T>A (p.Cys135Ser)
|
rs1057519975
|
|
NM_000546.6(TP53):c.403T>C (p.Cys135Arg)
|
rs1057519975
|
|
NM_000546.6(TP53):c.403T>G (p.Cys135Gly)
|
rs1057519975
|
|
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)
|
rs587781991
|
|
NM_000546.6(TP53):c.404G>T (p.Cys135Phe)
|
rs587781991
|
|
NM_000546.6(TP53):c.405C>G (p.Cys135Trp)
|
rs1057519976
|
|
NM_000546.6(TP53):c.427G>A (p.Val143Met)
|
rs587782620
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>G (p.Pro151Ala)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
NM_000546.6(TP53):c.452C>A (p.Pro151His)
|
rs1057520000
|
|
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)
|
rs1057520000
|
|
NM_000546.6(TP53):c.470T>C (p.Val157Ala)
|
rs1131691023
|
|
NM_000546.6(TP53):c.476C>T (p.Ala159Val)
|
rs1555526131
|
|
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)
|
rs193920817
|
|
NM_000546.6(TP53):c.487T>C (p.Tyr163His)
|
rs786203436
|
|
NM_000546.6(TP53):c.517G>A (p.Val173Met)
|
rs876660754
|
|
NM_000546.6(TP53):c.517G>T (p.Val173Leu)
|
rs876660754
|
|
NM_000546.6(TP53):c.518T>A (p.Val173Glu)
|
rs1057519747
|
|
NM_000546.6(TP53):c.518T>C (p.Val173Ala)
|
rs1057519747
|
|
NM_000546.6(TP53):c.518T>G (p.Val173Gly)
|
rs1057519747
|
|
NM_000546.6(TP53):c.533A>C (p.His178Pro)
|
rs1555526004
|
|
NM_000546.6(TP53):c.535C>G (p.His179Asp)
|
rs587780070
|
|
NM_000546.6(TP53):c.536A>T (p.His179Leu)
|
rs1057519991
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.637C>G (p.Arg213Gly)
|
rs397516436
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
NM_000546.6(TP53):c.638G>C (p.Arg213Pro)
|
rs587778720
|
|
NM_000546.6(TP53):c.638G>T (p.Arg213Leu)
|
rs587778720
|
|
NM_000546.6(TP53):c.644G>A (p.Ser215Asn)
|
rs587782177
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
NM_000546.6(TP53):c.658T>C (p.Tyr220His)
|
rs530941076
|
|
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn)
|
rs864622237
|
|
NM_000546.6(TP53):c.700T>C (p.Tyr234His)
|
rs864622237
|
|
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)
|
rs864622237
|
|
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser)
|
rs587780073
|
|
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
|
rs587780073
|
|
NM_000546.6(TP53):c.711G>T (p.Met237Ile)
|
rs587782664
|
|
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)
|
rs876660807
|
|
NM_000546.6(TP53):c.717C>G (p.Asn239Lys)
|
rs1057522275
|
|
NM_000546.6(TP53):c.717del (p.Asn239fs)
|
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.722_728del (p.Ser241fs)
|
|
|
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)
|
rs11540652
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000546.6(TP53):c.809T>G (p.Phe270Cys)
|
rs1057519986
|
|
NM_000546.6(TP53):c.817C>A (p.Arg273Ser)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>C (p.Arg273Pro)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.823T>C (p.Cys275Arg)
|
rs1057519983
|
|
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)
|
rs863224451
|
|
NM_000546.6(TP53):c.824G>T (p.Cys275Phe)
|
rs863224451
|
|
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)
|
rs763098116
|
|
NM_000546.6(TP53):c.842A>C (p.Asp281Ala)
|
rs587781525
|
|
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)
|
rs864321643
|
|
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)
|
rs397516440
|
|
NM_000551.4(VHL):c.479A>T (p.Glu160Val)
|
rs864321641
|
|
NM_000551.4(VHL):c.509T>C (p.Val170Ala)
|
rs864321642
|
|
NM_000551.4(VHL):c.548C>G (p.Ser183Trp)
|
rs5030823
|
|
NM_000551.4(VHL):c.588dup (p.Asp197fs)
|
rs864321640
|
|
NM_001123385.2(BCOR):c.398_399insAC (p.Ala134fs)
|
rs1555919960
|
|
NM_001123385.2(BCOR):c.4063G>T (p.Glu1355Ter)
|
rs780712297
|
|
NM_001123385.2(BCOR):c.4787_4802del (p.Gly1596fs)
|
rs1555913337
|
|
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly)
|
rs867384286
|
|
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys)
|
rs867384286
|
|
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu)
|
rs1057519895
|
|
NM_001370259.2(MEN1):c.1009G>C (p.Ala337Pro)
|
rs2071312
|
|
NM_001370259.2(MEN1):c.1013dup (p.Gln339fs)
|
rs386134245
|
|
NM_001370259.2(MEN1):c.1024G>C (p.Ala342Pro)
|
rs776561706
|
|
NM_001370259.2(MEN1):c.1049+2T>C
|
rs1555164946
|
|
NM_001370259.2(MEN1):c.1049A>T (p.Asp350Val)
|
|
|
NM_001370259.2(MEN1):c.1063del (p.Arg355fs)
|
rs386134246
|
|
NM_001370259.2(MEN1):c.1102del (p.Ala368fs)
|
rs2136110242
|
|
NM_001370259.2(MEN1):c.1117C>T (p.Pro373Ser)
|
rs794728627
|
|
NM_001370259.2(MEN1):c.113C>A (p.Ser38Tyr)
|
|
|
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)
|
rs794728616
|
|
NM_001370259.2(MEN1):c.1174dup (p.Glu392fs)
|
rs386134247
|
|
NM_001370259.2(MEN1):c.1185+1G>A
|
rs1941661315
|
|
NM_001370259.2(MEN1):c.1230del (p.Phe410fs)
|
|
|
NM_001370259.2(MEN1):c.1231G>C (p.Ala411Pro)
|
|
|
NM_001370259.2(MEN1):c.1232C>T (p.Ala411Val)
|
|
|
NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs)
|
rs1114167542
|
|
NM_001370259.2(MEN1):c.1256G>T (p.Gly419Val)
|
rs1941615895
|
|
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)
|
rs386134249
|
|
NM_001370259.2(MEN1):c.1267T>C (p.Trp423Arg)
|
rs1555164270
|
|
NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg)
|
rs1114167528
|
|
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)
|
rs104894259
|
|
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg)
|
rs104894259
|
|
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)
|
rs398124435
|
|
NM_001370259.2(MEN1):c.1311dup (p.Thr438fs)
|
rs1555164184
|
|
NM_001370259.2(MEN1):c.1328C>A (p.Ser443Tyr)
|
rs1060499981
|
|
NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser)
|
rs1941604532
|
|
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His)
|
rs1592636161
|
|
NM_001370259.2(MEN1):c.1354C>G (p.Arg452Gly)
|
|
|
NM_001370259.2(MEN1):c.1355G>C (p.Arg452Pro)
|
rs775922507
|
|
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)
|
rs778670301
|
|
NM_001370259.2(MEN1):c.1364T>A (p.Val455Glu)
|
rs878855189
|
|
NM_001370259.2(MEN1):c.137A>C (p.His46Pro)
|
rs2136192730
|
|
NM_001370259.2(MEN1):c.137A>G (p.His46Arg)
|
|
|
NM_001370259.2(MEN1):c.137A>T (p.His46Leu)
|
|
|
NM_001370259.2(MEN1):c.1397_1410del (p.Glu466fs)
|
|
|
NM_001370259.2(MEN1):c.1471G>T (p.Glu491Ter)
|
|
|
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs)
|
rs761695866
|
|
NM_001370259.2(MEN1):c.154C>G (p.Arg52Gly)
|
rs1555166664
|
|
NM_001370259.2(MEN1):c.1564dup (p.Val522fs)
|
rs1941522995
|
|
NM_001370259.2(MEN1):c.1663A>G (p.Ser555Gly)
|
|
|
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)
|
rs863224527
|
|
NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs)
|
rs1114167510
|
|
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del)
|
rs794728661
|
|
NM_001370259.2(MEN1):c.1673T>C (p.Met558Thr)
|
|
|
NM_001370259.2(MEN1):c.1732C>T (p.Gln578Ter)
|
|
|
NM_001370259.2(MEN1):c.1739del (p.Thr580fs)
|
rs864622617
|
|
NM_001370259.2(MEN1):c.1756C>T (p.Gln586Ter)
|
|
|
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)
|
rs1555166567
|
|
NM_001370259.2(MEN1):c.252dup (p.Ile85fs)
|
rs386134253
|
|
NM_001370259.2(MEN1):c.274del (p.Arg92fs)
|
rs2136186754
|
|
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
|
|
|
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
|
|
|
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)
|
rs786204242
|
|
NM_001370259.2(MEN1):c.416A>C (p.His139Pro)
|
|
|
NM_001370259.2(MEN1):c.416A>G (p.His139Arg)
|
rs1114167515
|
|
NM_001370259.2(MEN1):c.417C>A (p.His139Gln)
|
rs386134254
|
|
NM_001370259.2(MEN1):c.417C>G (p.His139Gln)
|
rs386134254
|
|
NM_001370259.2(MEN1):c.428T>G (p.Leu143Arg)
|
|
|
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val)
|
rs1114167543
|
|
NM_001370259.2(MEN1):c.445+1G>A
|
|
|
NM_001370259.2(MEN1):c.445+1G>T
|
|
|
NM_001370259.2(MEN1):c.458A>C (p.Asp153Ala)
|
rs1565648789
|
|
NM_001370259.2(MEN1):c.465_466insAATT (p.Gly156fs)
|
rs386134255
|
|
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys)
|
rs1085307471
|
|
NM_001370259.2(MEN1):c.491C>T (p.Ala164Val)
|
rs1565648547
|
|
NM_001370259.2(MEN1):c.494G>A (p.Cys165Tyr)
|
rs1057521111
|
|
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro)
|
rs386134256
|
|
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro)
|
rs376872829
|
|
NM_001370259.2(MEN1):c.643G>A (p.Val215Met)
|
rs794728621
|
|
NM_001370259.2(MEN1):c.649_654+2del
|
rs386134258
|
|
NM_001370259.2(MEN1):c.64C>A (p.Leu22Met)
|
|
|
NM_001370259.2(MEN1):c.654+3A>G
|
rs1064793168
|
|
NM_001370259.2(MEN1):c.655-15_658del
|
rs1592649598
|
|
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)
|
rs104894256
|
|
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg)
|
rs1592649108
|
|
NM_001370259.2(MEN1):c.725C>T (p.Ala242Val)
|
rs2136141530
|
|
NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.762_768dup (p.Leu257fs)
|
rs1555165488
|
|
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys)
|
rs104894268
|
|
NM_001370259.2(MEN1):c.763G>C (p.Glu255Gln)
|
rs104894268
|
|
NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe)
|
rs878855198
|
|
NM_001370259.2(MEN1):c.767T>C (p.Leu256Pro)
|
|
|
NM_001370259.2(MEN1):c.783+2del
|
|
|
NM_001370259.2(MEN1):c.784-1G>A
|
rs1555165377
|
|
NM_001370259.2(MEN1):c.784-1G>C
|
rs1555165377
|
|
NM_001370259.2(MEN1):c.784-2A>T
|
|
|
NM_001370259.2(MEN1):c.784-9G>A
|
rs794728625
|
|
NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro)
|
rs1592647281
|
|
NM_001370259.2(MEN1):c.818T>G (p.Leu273Arg)
|
|
|
NM_001370259.2(MEN1):c.825-1_825del
|
rs2136130282
|
|
NM_001370259.2(MEN1):c.830C>A (p.Pro277His)
|
rs1060499973
|
|
NM_001370259.2(MEN1):c.912G>T (p.Lys304Asn)
|
rs1592646211
|
|
NM_001370259.2(MEN1):c.955dup (p.Tyr319fs)
|
rs386134261
|
|
NM_001370259.2(MEN1):c.958C>A (p.Pro320Thr)
|
|
|
NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu)
|
rs1114167469
|
|
NM_001370259.2(MEN1):c.970_984del (p.Leu324_His328del)
|
rs1941723156
|
|
NM_001370259.2(MEN1):c.970del (p.Leu324fs)
|
rs1114167508
|
|
NM_001370259.2(MEN1):c.97G>C (p.Asp33His)
|
|
|
NM_001370259.2(MEN1):c.97G>T (p.Asp33Tyr)
|
|
|
NM_001370259.2(MEN1):c.983A>C (p.His328Pro)
|
|
|
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)
|
rs121913399
|
|
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)
|
rs121913412
|
|
NM_001904.4(CTNNB1):c.122C>A (p.Thr41Asn)
|
rs121913413
|
|
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile)
|
rs121913413
|
|
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro)
|
rs121913407
|
|
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.134C>G (p.Ser45Cys)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)
|
rs121913409
|
|
NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg)
|
rs1057519902
|
|
NM_002382.5(MAX):c.55C>T (p.Gln19Ter)
|
rs2139963878
|
|
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)
|
rs121913254
|
|
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)
|
rs11554290
|
|
NM_002524.5(NRAS):c.183A>T (p.Gln61His)
|
rs121913255
|
|
NM_003000.2(SDHB):c.201-?_765+?dup
|
|
|
NM_003000.3(SDHB):c.120G>C (p.Lys40Asn)
|
rs1570958090
|
|
NM_003000.3(SDHB):c.127G>C (p.Ala43Pro)
|
|
|
NM_003000.3(SDHB):c.131_139del (p.Ile44_Trp47delinsArg)
|
rs864321639
|
|
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)
|
rs772551056
|
|
NM_003000.3(SDHB):c.200+5G>T
|
rs1553178726
|
|
NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr)
|
rs587782904
|
|
NM_003000.3(SDHB):c.206G>T (p.Gly69Val)
|
rs2101529108
|
|
NM_003000.3(SDHB):c.221A>G (p.Asp74Gly)
|
|
|
NM_003000.3(SDHB):c.227T>G (p.Leu76Ter)
|
rs864321638
|
|
NM_003000.3(SDHB):c.251A>C (p.Asp84Ala)
|
rs864321637
|
|
NM_003000.3(SDHB):c.258_260dup (p.Thr86_Leu87insPhe)
|
rs2101528919
|
|
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)
|
rs727504457
|
|
NM_003000.3(SDHB):c.269G>T (p.Arg90Leu)
|
rs570278423
|
|
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg)
|
rs727503415
|
|
NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)
|
|
|
NM_003000.3(SDHB):c.286G>T (p.Gly96Cys)
|
rs587782243
|
|
NM_003000.3(SDHB):c.287-10_295del
|
|
|
NM_003000.3(SDHB):c.289A>T (p.Ile97Phe)
|
rs1553177769
|
|
NM_003000.3(SDHB):c.293G>A (p.Cys98Tyr)
|
rs1553177768
|
|
NM_003000.3(SDHB):c.296G>A (p.Gly99Asp)
|
rs878854576
|
|
NM_003000.3(SDHB):c.338G>C (p.Cys113Ser)
|
rs864321636
|
|
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr)
|
rs786203529
|
|
NM_003000.3(SDHB):c.424-79_424-2del
|
|
|
NM_003000.3(SDHB):c.540+1G>A
|
rs1553177667
|
|
NM_003000.3(SDHB):c.540_540+13del
|
rs1553177666
|
|
NM_003000.3(SDHB):c.566G>A (p.Cys189Tyr)
|
|
|
NM_003000.3(SDHB):c.567T>G (p.Cys189Trp)
|
rs2101516550
|
|
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr)
|
rs2077978456
|
|
NM_003000.3(SDHB):c.586T>C (p.Cys196Arg)
|
rs2101516484
|
|
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.598dup (p.Trp200fs)
|
rs2101516417
|
|
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)
|
rs397516836
|
|
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)
|
rs876658461
|
|
NM_003000.3(SDHB):c.641A>G (p.Gln214Arg)
|
rs781590955
|
|
NM_003000.3(SDHB):c.642_642+6del
|
rs876660368
|
|
NM_003000.3(SDHB):c.650G>T (p.Arg217Leu)
|
rs747518441
|
|
NM_003000.3(SDHB):c.72+2T>G
|
|
|
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)
|
rs786203251
|
|
NM_003000.3(SDHB):c.729C>G (p.Cys243Trp)
|
rs2101513669
|
|
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>C
|
|
|
NM_003000.3(SDHB):c.73-2A>T
|
rs1474282888
|
|
NM_003000.3(SDHB):c.756_765+4del
|
rs1553177267
|
|
NM_003000.3(SDHB):c.774_778del (p.Asn258fs)
|
|
|
NM_003000.3(SDHB):c.780dup (p.Lys261fs)
|
rs1557738304
|
|
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs)
|
rs1553176976
|
|
NM_003000.3(SDHB):c.785_786insG (p.Ile263fs)
|
rs1553176979
|
|
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr)
|
rs1553262444
|
|
NM_003001.5(SDHC):c.171_179+15del
|
rs1671156558
|
|
NM_003001.5(SDHC):c.179+1G>C
|
rs1057517818
|
|
NM_003001.5(SDHC):c.179+1G>T
|
rs1057517818
|
|
NM_003001.5(SDHC):c.179+2T>A
|
|
|
NM_003001.5(SDHC):c.180-2A>G
|
rs1363265634
|
|
NM_003001.5(SDHC):c.20+1G>A
|
|
|
NM_003001.5(SDHC):c.20+1G>T
|
rs1249046874
|
|
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp)
|
rs786205147
|
|
NM_003001.5(SDHC):c.2T>G (p.Met1Arg)
|
rs1670517782
|
|
NM_003001.5(SDHC):c.379C>A (p.His127Asn)
|
rs1485675090
|
|
NM_003001.5(SDHC):c.379C>G (p.His127Asp)
|
rs1485675090
|
|
NM_003001.5(SDHC):c.405+1del
|
rs1558182956
|
|
NM_003001.5(SDHC):c.406-1G>A
|
|
|
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs)
|
rs1672548902
|
|
NM_003001.5(SDHC):c.77+1G>A
|
rs1558164647
|
|
NM_003001.5(SDHC):c.77+1G>C
|
|
|
NM_003001.5(SDHC):c.78-1G>T
|
rs786202200
|
|
NM_003001.5(SDHC):c.78-2A>G
|
|
|
NM_003002.4(SDHD):c.117del (p.Ile40fs)
|
|
|
NM_003002.4(SDHD):c.128G>A (p.Trp43Ter)
|
rs2135267337
|
|
NM_003002.4(SDHD):c.147dup (p.His50fs)
|
rs876659130
|
|
NM_003002.4(SDHD):c.148C>G (p.His50Asp)
|
rs779249550
|
|
NM_003002.4(SDHD):c.18_21del (p.Leu7fs)
|
rs1555186662
|
|
NM_003002.4(SDHD):c.197_198delinsAA (p.Trp66Ter)
|
|
|
NM_003002.4(SDHD):c.217dup (p.Ser73fs)
|
rs2135269358
|
|
NM_003002.4(SDHD):c.275A>T (p.Asp92Val)
|
rs786205436
|
|
NM_003002.4(SDHD):c.298del (p.Thr100fs)
|
rs1555187067
|
|
NM_003002.4(SDHD):c.304C>A (p.His102Asn)
|
rs786202403
|
|
NM_003002.4(SDHD):c.304C>T (p.His102Tyr)
|
rs786202403
|
|
NM_003002.4(SDHD):c.305A>C (p.His102Pro)
|
rs104894302
|
|
NM_003002.4(SDHD):c.315-1G>A
|
rs1555187566
|
|
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)
|
rs876658477
|
|
NM_003002.4(SDHD):c.340T>C (p.Tyr114His)
|
rs876659276
|
|
NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)
|
rs878854594
|
|
NM_003002.4(SDHD):c.386del (p.Leu129fs)
|
rs864321644
|
|
NM_003002.4(SDHD):c.394del (p.Ser132fs)
|
rs1060503773
|
|
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)
|
rs786203932
|
|
NM_003002.4(SDHD):c.413G>A (p.Gly138Glu)
|
rs1401695686
|
|
NM_003002.4(SDHD):c.413G>T (p.Gly138Val)
|
rs1401695686
|
|
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)
|
rs80338847
|
|
NM_003002.4(SDHD):c.424_427del (p.Phe142fs)
|
rs2135277706
|
|
NM_003002.4(SDHD):c.443del (p.Gly148fs)
|
rs587776646
|
|
NM_003002.4(SDHD):c.44_52+24del
|
rs1865621296
|
|
NM_003002.4(SDHD):c.52+1_52+2delinsAA
|
|
|
NM_003002.4(SDHD):c.52+2T>G
|
rs587776644
|
|
NM_003002.4(SDHD):c.53-1_53delinsTT
|
rs1566691921
|
|
NM_003002.4(SDHD):c.53-2A>C
|
|
|
NM_004168.4(SDHA):c.1015T>C (p.Ser339Pro)
|
rs1553999041
|
|
NM_004168.4(SDHA):c.1064+1G>T
|
rs1579402807
|
|
NM_004168.4(SDHA):c.1064+2T>A
|
rs1553999072
|
|
NM_004168.4(SDHA):c.1064+2T>C
|
|
|
NM_004168.4(SDHA):c.1064+2T>G
|
rs1553999072
|
|
NM_004168.4(SDHA):c.1065-2A>G
|
|
|
NM_004168.4(SDHA):c.1260+1G>A
|
rs1735710012
|
|
NM_004168.4(SDHA):c.1260+2T>A
|
rs1735710103
|
|
NM_004168.4(SDHA):c.1261-1G>A
|
rs1735779936
|
|
NM_004168.4(SDHA):c.1261-2A>G
|
rs1579409293
|
|
NM_004168.4(SDHA):c.1304T>G (p.Leu435Arg)
|
rs1579409500
|
|
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu)
|
rs1296066077
|
|
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys)
|
rs1553999752
|
|
NM_004168.4(SDHA):c.1432+1G>A
|
|
|
NM_004168.4(SDHA):c.1432+1G>C
|
rs878854628
|
|
NM_004168.4(SDHA):c.1432+1G>T
|
rs878854628
|
|
NM_004168.4(SDHA):c.1432+2T>G
|
|
|
NM_004168.4(SDHA):c.1433-2A>G
|
|
|
NM_004168.4(SDHA):c.150+1G>C
|
rs1057523165
|
|
NM_004168.4(SDHA):c.150_150+1delinsTA
|
rs2126539987
|
|
NM_004168.4(SDHA):c.151-1G>C
|
rs1458851277
|
|
NM_004168.4(SDHA):c.151-2A>G
|
|
|
NM_004168.4(SDHA):c.1551+1G>A
|
rs759806010
|
|
NM_004168.4(SDHA):c.1552-1G>C
|
|
|
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val)
|
rs137852767
|
|
NM_004168.4(SDHA):c.1579del (p.Arg527fs)
|
rs1579437839
|
|
NM_004168.4(SDHA):c.1663+1G>A
|
rs766667009
|
|
NM_004168.4(SDHA):c.1664-16_1666del
|
|
|
NM_004168.4(SDHA):c.1664-1G>A
|
|
|
NM_004168.4(SDHA):c.1664-2A>G
|
rs2126633124
|
|
NM_004168.4(SDHA):c.1765C>G (p.Arg589Gly)
|
rs387906780
|
|
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln)
|
rs763766162
|
|
NM_004168.4(SDHA):c.1769del (p.Gly590fs)
|
rs1554001958
|
|
NM_004168.4(SDHA):c.1773_1774dup (p.His592fs)
|
rs1561010948
|
|
NM_004168.4(SDHA):c.1794+1G>A
|
rs876659595
|
|
NM_004168.4(SDHA):c.1795-1G>T
|
rs778516878
|
|
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter)
|
rs1579445179
|
|
NM_004168.4(SDHA):c.1909-1G>A
|
rs1159597886
|
|
NM_004168.4(SDHA):c.1A>T (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.210dup (p.Gly71fs)
|
rs1553997340
|
|
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg)
|
rs1553997377
|
|
NM_004168.4(SDHA):c.2T>C (p.Met1Thr)
|
rs750380279
|
|
NM_004168.4(SDHA):c.2T>G (p.Met1Arg)
|
rs750380279
|
|
NM_004168.4(SDHA):c.312+1G>A
|
rs2126543441
|
|
NM_004168.4(SDHA):c.456+1G>A
|
rs1579384604
|
|
NM_004168.4(SDHA):c.456+1G>T
|
rs1579384604
|
|
NM_004168.4(SDHA):c.457-1G>A
|
|
|
NM_004168.4(SDHA):c.484del (p.Arg162fs)
|
rs1734988578
|
|
NM_004168.4(SDHA):c.621+1G>A
|
rs1735002961
|
|
NM_004168.4(SDHA):c.622-1G>A
|
rs1285132774
|
|
NM_004168.4(SDHA):c.63+1G>C
|
|
|
NM_004168.4(SDHA):c.63+2del
|
rs1579369969
|
|
NM_004168.4(SDHA):c.64-2A>C
|
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
NM_004168.4(SDHA):c.757_758del (p.Val253fs)
|
rs1553998254
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
NM_004168.4(SDHA):c.769_770+77del
|
|
|
NM_004168.4(SDHA):c.771-1G>C
|
rs1735353141
|
|
NM_004168.4(SDHA):c.778G>C (p.Gly260Arg)
|
rs940845256
|
|
NM_004168.4(SDHA):c.895+1del
|
rs2126568833
|
|
NM_004168.4(SDHA):c.895+2T>C
|
|
|
NM_004168.4(SDHA):c.896-2A>G
|
|
|
NM_004168.4(SDHA):c.896-2del
|
|
|
NM_004168.4(SDHA):c.944dup (p.Gly316fs)
|
rs1579402180
|
|
NM_004168.4:c.(1260_1261)_(1432_1433)del
|
|
|
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1780G>C (p.Asp594His)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)
|
rs121913338
|
|
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs)
|
rs756385625
|
|
NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His)
|
rs1057519884
|
|
NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu)
|
rs1057519884
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)
|
rs121913499
|
|
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly)
|
rs121913499
|
|
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu)
|
rs121913500
|
|
NM_006218.4(PIK3CA):c.1033A>C (p.Asn345His)
|
rs1057519939
|
|
NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr)
|
rs1057519938
|
|
NM_006218.4(PIK3CA):c.1034A>T (p.Asn345Ile)
|
rs1057519938
|
|
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)
|
rs121913284
|
|
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)
|
rs121913272
|
|
NM_006218.4(PIK3CA):c.1258T>G (p.Cys420Gly)
|
rs121913272
|
|
NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val)
|
rs1057519936
|
|
NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu)
|
rs1057519936
|
|
NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr)
|
rs1057519937
|
|
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)
|
rs121913283
|
|
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)
|
rs121913281
|
|
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln)
|
rs1057519932
|
|
NM_012433.4(SF3B1):c.1873C>T (p.Arg625Cys)
|
rs775623976
|
|
NM_012433.4(SF3B1):c.1874G>A (p.Arg625His)
|
rs1057519961
|
|
NM_017617.5(NOTCH1):c.2825G>A (p.Cys942Tyr)
|
rs1554728658
|
|
NM_017617.5(NOTCH1):c.4045_4052del (p.Ala1349fs)
|
rs1554728034
|
|
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs)
|
rs1336819076
|
|
NM_017841.4(SDHAF2):c.28del (p.Ser10fs)
|
rs1861838658
|
|
NM_017841.4(SDHAF2):c.301C>T (p.Gln101Ter)
|
|
|
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)
|
rs753554501
|
|
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs)
|
rs1456129845
|
|
NM_017841.4(SDHAF2):c.42_45del (p.Ala15fs)
|
rs1862009020
|
|
NM_017841.4(SDHAF2):c.9_19del (p.Ser4fs)
|
|
|
NM_017849.4(TMEM127):c.-18C>T
|
rs121908813
|
|
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs)
|
rs121908816
|
|
NM_017849.4(TMEM127):c.149dup (p.Pro51fs)
|
rs121908817
|
|
NM_017849.4(TMEM127):c.185C>A (p.Ser62Ter)
|
|
|
NM_017849.4(TMEM127):c.208del (p.Asp70fs)
|
|
|
NM_017849.4(TMEM127):c.230del (p.Pro77fs)
|
|
|
NM_017849.4(TMEM127):c.245-1G>T
|
rs121908821
|
|
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs)
|
rs121908822
|
|
NM_017849.4(TMEM127):c.2T>C (p.Met1Thr)
|
|
|
NM_017849.4(TMEM127):c.3G>T (p.Met1Ile)
|
rs121908814
|
|
NM_017849.4(TMEM127):c.409+1G>T
|
rs121908825
|
|
NM_017849.4(TMEM127):c.410-2A>C
|
rs121908826
|
|
NM_017849.4(TMEM127):c.418T>C (p.Cys140Arg)
|
rs121908827
|
|
NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr)
|
rs121908828
|
|
NM_017849.4(TMEM127):c.447G>A (p.Trp149Ter)
|
rs121908829
|
|
NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter)
|
rs121908830
|
|
NM_017849.4(TMEM127):c.627_640dup (p.Met214fs)
|
rs121908831
|
|
NM_017849.4(TMEM127):c.76C>T (p.Gln26Ter)
|
rs121908815
|
|
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)
|
rs76262710
|
|
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)
|
rs79781594
|
|
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)
|
rs77503355
|
|
NM_020975.6(RET):c.1888T>C (p.Cys630Arg)
|
rs377767404
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
NM_020975.6(RET):c.1902C>G (p.Cys634Trp)
|
rs77709286
|
|
NM_020975.6(RET):c.1947G>A (p.Ser649=)
|
rs377767412
|
|
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)
|
rs146646971
|
|
NM_020975.6(RET):c.2304G>C (p.Glu768Asp)
|
rs78014899
|
|
NM_020975.6(RET):c.2410G>C (p.Val804Leu)
|
rs79658334
|
|
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe)
|
rs377767429
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_024529.5(CDC73):c.70G>T (p.Glu24Ter)
|
|
|
NM_152641.4(ARID2):c.2989C>T (p.Gln997Ter)
|
rs1555155110
|
|