NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu)
|
rs4792311
|
0.27559
|
NM_001142616.3(EHBP1):c.1185+30064G>A
|
rs721048
|
0.13334
|
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)
|
rs5030739
|
0.02886
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_017449.5(EPHB2):c.835G>T (p.Ala279Ser)
|
rs35882952
|
0.00424
|
NM_021133.4(RNASEL):c.793G>T (p.Glu265Ter)
|
rs74315364
|
0.00334
|
NM_017449.5(EPHB2):c.2032G>A (p.Asp678Asn)
|
rs28936395
|
0.00287
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val)
|
rs119484087
|
0.00156
|
NM_000044.6(AR):c.2180G>T (p.Arg727Leu)
|
rs137852593
|
0.00141
|
NM_000044.6(AR):c.2395C>G (p.Gln799Glu)
|
rs137852591
|
0.00137
|
NM_016218.6(POLK):c.85G>A (p.Glu29Lys)
|
rs148960463
|
0.00137
|
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)
|
rs119484086
|
0.00064
|
NM_000044.6(AR):c.1792A>G (p.Ser598Gly)
|
rs142280455
|
0.00038
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_021133.4(RNASEL):c.3G>A (p.Met1Ile)
|
rs74315365
|
0.00021
|
NM_018127.7(ELAC2):c.1924G>A (p.Val642Met)
|
rs149561185
|
0.00020
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000044.6(AR):c.1644G>T (p.Leu548Phe)
|
rs139524801
|
0.00018
|
NM_000044.6(AR):c.208C>T (p.Gln70Ter)
|
rs1281274698
|
0.00017
|
NM_000044.6(AR):c.1301C>T (p.Ser434Phe)
|
rs748457992
|
0.00011
|
NM_000044.6(AR):c.1195T>C (p.Trp399Arg)
|
rs774645775
|
0.00010
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00006
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
NM_000044.6(AR):c.1063G>C (p.Glu355Gln)
|
rs367604031
|
0.00004
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_000044.6(AR):c.1208C>T (p.Ala403Val)
|
rs772490323
|
0.00003
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
NM_000044.6(AR):c.1651G>C (p.Asp551His)
|
rs777461721
|
0.00002
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
0.00002
|
NM_003921.5(BCL10):c.488C>T (p.Thr163Met)
|
rs370432633
|
0.00002
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
NM_000044.6(AR):c.1175C>G (p.Pro392Arg)
|
rs773996740
|
0.00001
|
NM_000044.6(AR):c.2184C>G (p.Asn728Lys)
|
rs768869912
|
0.00001
|
NM_000044.6(AR):c.2191G>A (p.Val731Met)
|
rs137852571
|
0.00001
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
NM_000059.4(BRCA2):c.3450dup (p.Ile1151fs)
|
rs397507668
|
0.00001
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
0.00001
|
NM_000059.4(BRCA2):c.4472_4475del (p.Leu1491fs)
|
rs80359452
|
0.00001
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)
|
rs80359541
|
0.00001
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
rs80358814
|
0.00001
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)
|
rs80359705
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)
|
rs121913105
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)
|
rs121913293
|
0.00001
|
NM_000546.6(TP53):c.375G>A (p.Thr125=)
|
rs55863639
|
0.00001
|
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)
|
rs587780784
|
0.00001
|
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter)
|
rs756250205
|
0.00001
|
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_016218.6(POLK):c.1284G>A (p.Ala428=)
|
rs770984846
|
0.00001
|
NM_018127.6(ELAC2):c.1641dup (p.His548Alafs)
|
rs387906327
|
0.00001
|
NM_000044.6(AR):c.154_220del (p.Ala52fs)
|
|
|
NM_000044.6(AR):c.161TGC[5] (p.Leu57dup)
|
rs752055010
|
|
NM_000044.6(AR):c.2599G>A (p.Val867Met)
|
rs137852564
|
|
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs)
|
rs1555116381
|
|
NM_000051.4(ATM):c.6820dup (p.Ala2274fs)
|
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
rs80358391
|
|
NM_000059.4(BRCA2):c.1366G>T (p.Glu456Ter)
|
rs778142232
|
|
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)
|
rs80358427
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter)
|
rs80358456
|
|
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)
|
rs80359302
|
|
NM_000059.4(BRCA2):c.1762delinsTTT (p.Asn588fs)
|
|
|
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)
|
rs276174813
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
NM_000059.4(BRCA2):c.2059_2063del (p.Leu686_Asp687insTer)
|
rs587782780
|
|
NM_000059.4(BRCA2):c.2150del (p.Cys717fs)
|
rs397507618
|
|
NM_000059.4(BRCA2):c.2214T>A (p.Cys738Ter)
|
rs398122742
|
|
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)
|
rs80358494
|
|
NM_000059.4(BRCA2):c.2259del (p.Gln754fs)
|
rs397507621
|
|
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)
|
rs80359328
|
|
NM_000059.4(BRCA2):c.2905C>T (p.Gln969Ter)
|
rs886038080
|
|
NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter)
|
rs397507296
|
|
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs)
|
rs80359365
|
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
rs80358557
|
|
NM_000059.4(BRCA2):c.3160_3163del (p.Asp1054fs)
|
rs80359371
|
|
NM_000059.4(BRCA2):c.3189_3192del (p.Ser1064fs)
|
rs80359374
|
|
NM_000059.4(BRCA2):c.3195_3198del (p.Asn1066fs)
|
rs80359375
|
|
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter)
|
rs80358573
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)
|
rs80359391
|
|
NM_000059.4(BRCA2):c.3631G>T (p.Glu1211Ter)
|
rs886040486
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)
|
rs397515636
|
|
NM_000059.4(BRCA2):c.4022C>G (p.Ser1341Ter)
|
|
|
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs)
|
rs397507323
|
|
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)
|
rs80359429
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs)
|
rs80359444
|
|
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs)
|
rs397507720
|
|
NM_000059.4(BRCA2):c.470_474del (p.Lys157fs)
|
rs80359463
|
|
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs)
|
rs2137510225
|
|
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)
|
rs786203494
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer)
|
rs80359484
|
|
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer)
|
rs80359496
|
|
NM_000059.4(BRCA2):c.5217_5224del
|
rs80359497
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)
|
rs80359503
|
|
NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter)
|
rs80358757
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs)
|
rs80359516
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs)
|
rs80359526
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.574_575del (p.Met192fs)
|
rs80359533
|
|
NM_000059.4(BRCA2):c.5789del (p.Leu1930fs)
|
rs397507806
|
|
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter)
|
rs80358807
|
|
NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs)
|
rs80359538
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
NM_000059.4(BRCA2):c.5823del (p.Val1942fs)
|
rs80359540
|
|
NM_000059.4(BRCA2):c.5959C>T (p.Gln1987Ter)
|
rs80358828
|
|
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs)
|
rs80359554
|
|
NM_000059.4(BRCA2):c.610dup (p.Leu204fs)
|
rs80359560
|
|
NM_000059.4(BRCA2):c.613_614del (p.Ser205fs)
|
rs1566219362
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
NM_000059.4(BRCA2):c.643del (p.Glu215fs)
|
rs2137458206
|
|
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs)
|
rs80359593
|
|
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs)
|
rs80359596
|
|
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs)
|
rs80359596
|
|
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs)
|
rs397507373
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)
|
rs80359605
|
|
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer)
|
rs80359607
|
|
NM_000059.4(BRCA2):c.6611del (p.Pro2204fs)
|
rs1135401915
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
NM_000059.4(BRCA2):c.6744dup (p.Ala2249fs)
|
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.729_732del (p.Asn243fs)
|
rs80359645
|
|
NM_000059.4(BRCA2):c.7409dup (p.Thr2471fs)
|
rs397507915
|
|
NM_000059.4(BRCA2):c.7617+2T>G
|
rs81002843
|
|
NM_000059.4(BRCA2):c.7618-1G>A
|
rs397507389
|
|
NM_000059.4(BRCA2):c.778_779del (p.Glu260fs)
|
rs80359677
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly)
|
rs41293513
|
|
NM_000059.4(BRCA2):c.8174_8185delinsTT (p.Trp2725fs)
|
rs730881615
|
|
NM_000059.4(BRCA2):c.8331+1G>A
|
rs81002837
|
|
NM_000059.4(BRCA2):c.8332-1G>A
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs)
|
rs276174907
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8528del (p.Asn2843fs)
|
rs397507989
|
|
NM_000059.4(BRCA2):c.8579del (p.Lys2860fs)
|
rs80359719
|
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
rs397507409
|
|
NM_000059.4(BRCA2):c.8755-1G>C
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs)
|
rs80359734
|
|
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs)
|
rs276174918
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)
|
rs397508045
|
|
NM_000059.4(BRCA2):c.9403del
|
rs80359760
|
|
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys)
|
rs121913479
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)
|
rs78311289
|
|
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met)
|
rs121913105
|
|
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn)
|
rs28928868
|
|
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg)
|
rs121913101
|
|
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu)
|
rs397515514
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)
|
rs121913483
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000222.3(KIT):c.2446G>C (p.Asp816His)
|
rs121913506
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.176C>G (p.Ser59Ter)
|
rs1060500116
|
|
NM_000314.8(PTEN):c.209+1G>A
|
rs1554897280
|
|
NM_000314.8(PTEN):c.253+2T>A
|
rs1224040268
|
|
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)
|
rs1339631701
|
|
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys)
|
rs370795352
|
|
NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter)
|
rs587782187
|
|
NM_000314.8(PTEN):c.634+2T>C
|
rs727504114
|
|
NM_000314.8(PTEN):c.634+5G>A
|
rs138336847
|
|
NM_000314.8(PTEN):c.654C>A (p.Cys218Ter)
|
rs1554825165
|
|
NM_000314.8(PTEN):c.741dup (p.Pro248fs)
|
rs587782341
|
|
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)
|
rs863224909
|
|
NM_000455.5(STK11):c.388dup (p.Glu130fs)
|
|
|
NM_000455.5(STK11):c.488G>A (p.Gly163Asp)
|
rs137853078
|
|
NM_000455.5(STK11):c.812del (p.Ser271fs)
|
rs2145427067
|
|
NM_003921.5(BCL10):c.172C>G (p.Arg58Gly)
|
rs121918314
|
|
NM_003921.5(BCL10):c.172C>T (p.Arg58Ter)
|
rs121918314
|
|
NM_003921.5(BCL10):c.499dup (p.Ser167fs)
|
rs387906350
|
|
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter)
|
rs587782798
|
|
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs)
|
rs886039612
|
|
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)
|
rs587781276
|
|
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)
|
rs876658932
|
|
NM_004360.5(CDH1):c.382del (p.His128fs)
|
rs1555514492
|
|
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys)
|
rs28933406
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)
|
rs587781705
|
|
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)
|
rs200917541
|
|
NM_007194.4(CHEK2):c.444+2T>C
|
rs560596101
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007194.4(CHEK2):c.593-1G>T
|
rs786203229
|
|
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)
|
rs121908702
|
|
NM_007194.4(CHEK2):c.902del (p.Leu301fs)
|
rs748005072
|
|
NM_007294.4(BRCA1):c.4339C>T (p.Gln1447Ter)
|
rs80357067
|
|
NM_016218.6(POLK):c.*66T>C
|
rs786205688
|
|
NM_016218.6(POLK):c.1256A>G (p.Glu419Gly)
|
rs111584802
|
|
NM_016218.6(POLK):c.1289A>G (p.Glu430Gly)
|
rs1554062741
|
|
NM_016218.6(POLK):c.1324C>T (p.Leu442Phe)
|
rs1554062789
|
|
NM_016218.6(POLK):c.1341G>A (p.Gln447=)
|
rs1554062804
|
|
NM_016218.6(POLK):c.1345G>A (p.Glu449Lys)
|
rs1304454699
|
|
NM_016218.6(POLK):c.1381A>G (p.Lys461Glu)
|
rs1554063600
|
|
NM_016218.6(POLK):c.1460T>C (p.Ile487Thr)
|
rs1554063656
|
|
NM_016218.6(POLK):c.1582A>T (p.Ser528Cys)
|
rs139591993
|
|
NM_016218.6(POLK):c.1652A>T (p.Asp551Val)
|
rs1554064175
|
|
NM_016218.6(POLK):c.1692G>A (p.Lys564=)
|
rs781194178
|
|
NM_016218.6(POLK):c.1741G>A (p.Asp581Asn)
|
rs863225457
|
|
NM_016218.6(POLK):c.2033C>T (p.Ser678Phe)
|
rs863225455
|
|
NM_016218.6(POLK):c.2192T>A (p.Leu731His)
|
rs863225456
|
|
NM_016218.6(POLK):c.2598T>G (p.Asp866Glu)
|
rs1554064740
|
|
NM_016218.6(POLK):c.410C>T (p.Ser137Phe)
|
rs863225454
|
|
NM_016218.6(POLK):c.461G>A (p.Gly154Glu)
|
rs749804502
|
|
NM_016218.6(POLK):c.464T>C (p.Phe155Ser)
|
rs1554059550
|
|
NM_016218.6(POLK):c.512T>C (p.Phe171Ser)
|
rs1554059573
|
|
NM_017449.5(EPHB2):c.2164C>T (p.Gln722Ter)
|
rs121912582
|
|
NM_018127.7(ELAC2):c.225C>G (p.Tyr75Ter)
|
rs766731755
|
|
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu)
|
rs397515465
|
|
NM_130439.3(MXI1):c.552+2T>C
|
rs387906417
|
|
NM_130439.3(MXI1):c.623del (p.Lys208fs)
|
|
|
NM_130439.3(MXI1):c.656A>C (p.Glu219Ala)
|
rs137852603
|
|