|
NM_004360.5(CDH1):c.48+181G>C
|
rs3743675
|
0.80468
|
|
NM_004360.5(CDH1):c.48+6C>T
|
rs3743674
|
0.80384
|
|
NM_004360.5(CDH1):c.2076T>C (p.Ala692=)
|
rs1801552
|
0.70379
|
|
NC_000010.11:g.46046326=
|
rs10993994
|
0.45944
|
|
NM_018127.7(ELAC2):c.1305-8T>C
|
rs3760316
|
0.32355
|
|
NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln)
|
rs486907
|
0.28062
|
|
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu)
|
rs4792311
|
0.27559
|
|
NM_018127.7(ELAC2):c.297-11T>C
|
rs58809197
|
0.27292
|
|
NM_018127.7(ELAC2):c.1218+15C>T
|
rs55825263
|
0.26965
|
|
NM_018127.7(ELAC2):c.1304+17A>T
|
rs55674356
|
0.26960
|
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
|
NM_001142616.3(EHBP1):c.1185+30064G>A
|
rs721048
|
0.13334
|
|
NM_006361.6(HOXB13):c.513T>C (p.Ser171=)
|
rs9900627
|
0.11073
|
|
NM_004360.5(CDH1):c.1937-13T>C
|
rs2276330
|
0.09635
|
|
NM_018127.7(ELAC2):c.1893A>G (p.Thr631=)
|
rs17552022
|
0.08581
|
|
NM_018127.7(ELAC2):c.491-14T>C
|
rs74556312
|
0.08556
|
|
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)
|
rs17233497
|
0.05303
|
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
|
NM_004360.5(CDH1):c.531+10G>C
|
rs33963999
|
0.03907
|
|
NM_004360.5(CDH1):c.2253C>T (p.Asn751=)
|
rs33964119
|
0.03869
|
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
|
NM_018127.7(ELAC2):c.798-20G>T
|
rs77528900
|
0.03735
|
|
NM_000059.4(BRCA2):c.2229T>C (p.His743=)
|
rs1801499
|
0.03698
|
|
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)
|
rs766173
|
0.03693
|
|
NM_001290208.3(ZNF717):c.1228C>G (p.Leu410Val)
|
rs193921040
|
0.03372
|
|
NM_004360.5(CDH1):c.48+5C>G
|
rs77312180
|
0.03370
|
|
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)
|
rs5030739
|
0.02886
|
|
NC_000008.11:g.127325028_127325029dup
|
rs201361304
|
0.02419
|
|
NM_018127.7(ELAC2):c.2130C>T (p.Ser710=)
|
rs7217826
|
0.02093
|
|
NM_004360.5(CDH1):c.1896C>T (p.His632=)
|
rs33969373
|
0.02054
|
|
NM_004360.5(CDH1):c.2634C>T (p.Gly878=)
|
rs2229044
|
0.01638
|
|
NM_018127.7(ELAC2):c.1389C>T (p.Tyr463=)
|
rs77972324
|
0.01451
|
|
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)
|
rs33935154
|
0.01412
|
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
|
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)
|
rs9590940
|
0.01220
|
|
NM_017449.5(EPHB2):c.*187A>T
|
rs76826147
|
0.01125
|
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
|
NM_004360.5(CDH1):c.933C>G (p.Leu311=)
|
rs35539711
|
0.00974
|
|
NM_004360.5(CDH1):c.-71C>G
|
rs34033771
|
0.00927
|
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
|
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)
|
rs45574331
|
0.00792
|
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
|
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
|
NM_018127.7(ELAC2):c.1479G>C (p.Pro493=)
|
rs140335642
|
0.00771
|
|
NM_006361.6(HOXB13):c.330C>A (p.Pro110=)
|
rs33993186
|
0.00691
|
|
NM_138715.3(MSR1):c.520G>T (p.Asp174Tyr)
|
rs72552387
|
0.00667
|
|
NM_018127.7(ELAC2):c.368-4T>A
|
rs139778647
|
0.00657
|
|
NC_000008.11:g.127193633G>T
|
rs1428102803
|
0.00491
|
|
NM_001098794.2(FHIP1B):c.2542C>T (p.Arg848Cys)
|
rs117940741
|
0.00490
|
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
|
NR_109833.1(PRNCR1):n.11999A>G
|
rs183373024
|
0.00457
|
|
NM_000059.4(BRCA2):c.7008-62A>G
|
rs76584943
|
0.00439
|
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
|
NM_017449.5(EPHB2):c.835G>T (p.Ala279Ser)
|
rs35882952
|
0.00424
|
|
NC_000008.11:g.126929548G>A
|
rs182352457
|
0.00421
|
|
NC_000008.11:g.127196124A>G
|
rs138042437
|
0.00408
|
|
NC_000008.11:g.127179427T>A
|
rs188140481
|
0.00399
|
|
NM_004360.5(CDH1):c.-84G>A
|
rs374268061
|
0.00369
|
|
NC_000008.11:g.127467731T>C
|
rs78311688
|
0.00362
|
|
NM_004360.5(CDH1):c.2439+22C>T
|
rs34751606
|
0.00346
|
|
NM_021133.4(RNASEL):c.793G>T (p.Glu265Ter)
|
rs74315364
|
0.00334
|
|
NM_004360.5(CDH1):c.833-16C>G
|
rs33984587
|
0.00332
|
|
NM_001013836.2(MAD1L1):c.175C>T (p.Arg59Cys)
|
rs121908982
|
0.00314
|
|
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)
|
rs35187787
|
0.00311
|
|
NM_017449.5(EPHB2):c.2032G>A (p.Asp678Asn)
|
rs28936395
|
0.00287
|
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
|
NM_004360.5(CDH1):c.1680G>C (p.Thr560=)
|
rs35741240
|
0.00261
|
|
NM_004360.5(CDH1):c.324A>G (p.Arg108=)
|
rs116542018
|
0.00255
|
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
|
NM_004360.5(CDH1):c.345G>A (p.Thr115=)
|
rs1801023
|
0.00236
|
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
|
NM_018127.7(ELAC2):c.174G>A (p.Val58=)
|
rs2286334
|
0.00196
|
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
|
NM_004360.5(CDH1):c.2292C>T (p.Asp764=)
|
rs61747636
|
0.00159
|
|
NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val)
|
rs119484087
|
0.00156
|
|
NM_006361.6(HOXB13):c.735G>A (p.Lys245=)
|
rs138675188
|
0.00147
|
|
NM_004360.5(CDH1):c.2440-6C>G
|
rs139757930
|
0.00145
|
|
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_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
|
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val)
|
rs56321129
|
0.00095
|
|
NM_001395159.1(UNC79):c.4394C>T (p.Thr1465Met)
|
rs34816083
|
0.00084
|
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
|
NM_000314.8(PTEN):c.-666G>A
|
rs553371022
|
0.00069
|
|
NM_007194.4(CHEK2):c.-6G>A
|
rs376995740
|
0.00065
|
|
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)
|
rs119484086
|
0.00064
|
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
|
NM_001126049.2(KLLN):c.-792C>T
|
rs587779982
|
0.00044
|
|
NM_004360.5(CDH1):c.1138-3C>T
|
rs36103202
|
0.00042
|
|
NM_004360.5(CDH1):c.1239C>T (p.Tyr413=)
|
rs36074916
|
0.00041
|
|
NM_024704.5(KIF16B):c.1979G>A (p.Arg660His)
|
rs138901840
|
0.00040
|
|
NM_001290268.2(RIPOR3):c.67G>A (p.Val23Met)
|
rs141033220
|
0.00039
|
|
NM_000044.6(AR):c.173A>T (p.Gln58Leu)
|
rs200185441
|
0.00038
|
|
NM_000044.6(AR):c.1792A>G (p.Ser598Gly)
|
rs142280455
|
0.00038
|
|
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
|
NM_018127.7(ELAC2):c.2376G>A (p.Ala792=)
|
rs180717697
|
0.00034
|
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00031
|
|
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
|
NM_004360.5(CDH1):c.303C>T (p.Tyr101=)
|
rs150789339
|
0.00027
|
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
|
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=)
|
rs369047997
|
0.00025
|
|
NM_000044.6(AR):c.528C>A (p.Ser176Arg)
|
rs777131133
|
0.00024
|
|
NM_018127.7(ELAC2):c.1186A>G (p.Ile396Val)
|
rs149544601
|
0.00024
|
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
|
NM_006361.6(HOXB13):c.567C>T (p.Asn189=)
|
rs143945091
|
0.00022
|
|
NM_006361.6(HOXB13):c.602-9G>A
|
rs148901331
|
0.00022
|
|
NM_031485.4(GRWD1):c.593G>A (p.Arg198Gln)
|
rs147327994
|
0.00022
|
|
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys)
|
rs200310662
|
0.00021
|
|
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_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
|
NM_000044.6(AR):c.1153G>T (p.Ala385Ser)
|
rs200067740
|
0.00018
|
|
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_018127.7(ELAC2):c.520G>A (p.Glu174Lys)
|
rs374954001
|
0.00017
|
|
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
|
NM_001793.6(CDH3):c.235G>A (p.Glu79Lys)
|
rs193921054
|
0.00015
|
|
NM_005392.4(PHF2):c.2563G>A (p.Asp855Asn)
|
rs193921057
|
0.00015
|
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
|
NM_017551.3(GRID1):c.884C>T (p.Thr295Met)
|
rs143353694
|
0.00014
|
|
NM_000314.8(PTEN):c.-860A>G
|
rs876661029
|
0.00013
|
|
NM_000314.8(PTEN):c.-910T>C
|
rs550385924
|
0.00013
|
|
NM_019842.4(KCNQ5):c.2110G>A (p.Ala704Thr)
|
rs148543637
|
0.00013
|
|
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile)
|
rs370864592
|
0.00012
|
|
NM_000044.6(AR):c.1301C>T (p.Ser434Phe)
|
rs748457992
|
0.00011
|
|
NM_000314.8(PTEN):c.-1206G>A
|
rs961642255
|
0.00011
|
|
NM_000314.8(PTEN):c.-835C>T
|
rs587779994
|
0.00011
|
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
|
NM_001004416.3(UMODL1):c.3655G>A (p.Val1219Ile)
|
rs539189509
|
0.00011
|
|
NM_001242898.2(PPP6R2):c.2350C>T (p.Arg784Trp)
|
rs193920858
|
0.00011
|
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
|
NM_022829.6(SLC13A3):c.1637G>A (p.Arg546Gln)
|
rs188700676
|
0.00011
|
|
NM_033360.4(KRAS):c.90C>T (p.Asp30=)
|
rs113623140
|
0.00011
|
|
NM_152501.5(PYHIN1):c.602G>A (p.Arg201His)
|
rs193920831
|
0.00011
|
|
NM_152635.3(OIT3):c.1598C>T (p.Thr533Met)
|
rs145480078
|
0.00011
|
|
NM_000044.6(AR):c.1195T>C (p.Trp399Arg)
|
rs774645775
|
0.00010
|
|
NM_002470.4(MYH3):c.118G>A (p.Val40Met)
|
rs148637119
|
0.00010
|
|
NM_021133.4(RNASEL):c.1260C>T (p.Phe420=)
|
rs540408368
|
0.00010
|
|
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=)
|
rs41293491
|
0.00009
|
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
|
NM_002847.5(PTPRN2):c.2339T>C (p.Leu780Pro)
|
rs193920806
|
0.00009
|
|
NM_005560.6(LAMA5):c.2479C>T (p.Arg827Cys)
|
rs193920947
|
0.00009
|
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
|
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)
|
rs587780189
|
0.00009
|
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
|
NM_001012967.3(DDX60L):c.1633C>T (p.Arg545Trp)
|
rs201155959
|
0.00008
|
|
NM_006361.6(HOXB13):c.832G>T (p.Val278Leu)
|
rs200997384
|
0.00008
|
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
|
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met)
|
rs558321010
|
0.00008
|
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
|
NM_001007228.2(SPOP):c.353-11C>T
|
rs778981076
|
0.00007
|
|
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val)
|
rs375130261
|
0.00007
|
|
NM_018127.7(ELAC2):c.2245C>T (p.His749Tyr)
|
rs762471494
|
0.00007
|
|
NM_000044.6(AR):c.188A>T (p.Gln63Leu)
|
rs62636527
|
0.00006
|
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
|
NM_001010903.5(BNIP5):c.1447C>T (p.Arg483Trp)
|
rs193920980
|
0.00006
|
|
NM_001040105.2(MUC17):c.8950G>A (p.Glu2984Lys)
|
rs193920784
|
0.00006
|
|
NM_001291867.2(NHS):c.2204G>A (p.Arg735His)
|
rs193921046
|
0.00006
|
|
NM_001351264.2(MTNAP1):c.973C>T (p.Arg325Trp)
|
rs776418014
|
0.00006
|
|
NM_004360.5(CDH1):c.48+15_48+16del
|
rs730881655
|
0.00006
|
|
NM_004385.5(VCAN):c.8053G>A (p.Val2685Ile)
|
rs59948995
|
0.00006
|
|
NM_006361.6(HOXB13):c.140A>G (p.Asn47Ser)
|
rs748333323
|
0.00006
|
|
NM_006774.5(INMT):c.625C>T (p.Arg209Cys)
|
rs193920790
|
0.00006
|
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
|
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys)
|
rs138040612
|
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_007194.4(CHEK2):c.937G>A (p.Val313Met)
|
rs752302543
|
0.00006
|
|
NM_018127.7(ELAC2):c.1871T>C (p.Leu624Ser)
|
rs1217149676
|
0.00006
|
|
NM_024704.5(KIF16B):c.1588G>A (p.Val530Met)
|
rs193920855
|
0.00006
|
|
NM_052918.5(SORCS1):c.3371+126C>T
|
rs193920991
|
0.00006
|
|
NM_078471.4(MYO18A):c.40G>A (p.Gly14Arg)
|
rs755153578
|
0.00006
|
|
NM_138778.5(DPH7):c.932A>G (p.Asn311Ser)
|
rs193920785
|
0.00006
|
|
NM_003243.5(TGFBR3):c.2519C>T (p.Thr840Met)
|
rs193920827
|
0.00005
|
|
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_000314.6(PTEN):c.-943C>T
|
rs587779999
|
0.00004
|
|
NM_000314.8(PTEN):c.-121A>G
|
rs886047395
|
0.00004
|
|
NM_000696.4(ALDH9A1):c.265T>C (p.Trp89Arg)
|
rs140581841
|
0.00004
|
|
NM_001126049.2(KLLN):c.-806A>C
|
rs587782761
|
0.00004
|
|
NM_001358235.2(DCHS2):c.4375G>A (p.Gly1459Arg)
|
rs193920995
|
0.00004
|
|
NM_002337.4(LRPAP1):c.347A>G (p.Asn116Ser)
|
rs34897511
|
0.00004
|
|
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)
|
rs587781312
|
0.00004
|
|
NM_004360.5(CDH1):c.377C>T (p.Pro126Leu)
|
rs746703615
|
0.00004
|
|
NM_004360.5(CDH1):c.84C>T (p.Cys28=)
|
rs587780789
|
0.00004
|
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
|
NM_007194.4(CHEK2):c.400G>C (p.Asp134His)
|
rs372874441
|
0.00004
|
|
NM_007194.4(CHEK2):c.847-10C>G
|
rs745745105
|
0.00004
|
|
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala)
|
rs374395284
|
0.00004
|
|
NM_015062.5(PPRC1):c.904A>G (p.Ile302Val)
|
rs193920990
|
0.00004
|
|
NM_018127.7(ELAC2):c.2457G>A (p.Gln819=)
|
rs773456696
|
0.00004
|
|
NM_018303.6(EXOC2):c.1241G>A (p.Arg414His)
|
rs145867129
|
0.00004
|
|
NM_018310.4(BRF2):c.277G>A (p.Ala93Thr)
|
rs142395337
|
0.00004
|
|
NM_020731.4(AHRR):c.1472G>A (p.Arg491Gln)
|
rs769781351
|
0.00004
|
|
NM_021008.4(DEAF1):c.1526G>A (p.Arg509Gln)
|
rs193920740
|
0.00004
|
|
NM_022481.6(ARAP3):c.2806C>T (p.Arg936Trp)
|
rs145752053
|
0.00004
|
|
NM_024045.2(DDX50):c.122C>T (p.Ser41Leu)
|
rs374203626
|
0.00004
|
|
NM_024870.4(PREX2):c.1444-4G>A
|
rs193920825
|
0.00004
|
|
NM_025113.5(RUBCNL):c.1141C>T (p.Arg381Ter)
|
rs193920942
|
0.00004
|
|
NM_178543.5(ENPP7):c.68C>T (p.Pro23Leu)
|
rs193920826
|
0.00004
|
|
NM_000044.6(AR):c.1208C>T (p.Ala403Val)
|
rs772490323
|
0.00003
|
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00003
|
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
|
NM_001089.3(ABCA3):c.2086G>A (p.Asp696Asn)
|
rs193920904
|
0.00003
|
|
NM_001126049.2(KLLN):c.-845C>T
|
rs587782068
|
0.00003
|
|
NM_001134658.3(SLC35G1):c.427G>A (p.Ala143Thr)
|
rs144043787
|
0.00003
|
|
NM_001612.6(ACRV1):c.623C>T (p.Thr208Ile)
|
rs193921098
|
0.00003
|
|
NM_002829.4(PTPN3):c.632C>T (p.Ala211Val)
|
rs193920798
|
0.00003
|
|
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg)
|
rs587778176
|
0.00003
|
|
NM_004360.5(CDH1):c.1371G>A (p.Thr457=)
|
rs370368644
|
0.00003
|
|
NM_004360.5(CDH1):c.759C>T (p.Thr253=)
|
rs372934565
|
0.00003
|
|
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)
|
rs587780167
|
0.00003
|
|
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)
|
rs587780171
|
0.00003
|
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
|
NM_007194.4(CHEK2):c.953G>A (p.Arg318His)
|
rs143611747
|
0.00003
|
|
NM_012397.4(SERPINB13):c.893C>T (p.Ala298Val)
|
rs864622008
|
0.00003
|
|
NM_014708.6(KNTC1):c.6626C>T (p.Ser2209Leu)
|
rs772156434
|
0.00003
|
|
NM_021186.5(ZP4):c.214G>A (p.Asp72Asn)
|
rs193920872
|
0.00003
|
|
NM_080746.3(RPL10L):c.94C>T (p.Arg32Cys)
|
rs193920822
|
0.00003
|
|
NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr)
|
rs142346881
|
0.00003
|
|
NM_152792.4(ASPRV1):c.-158C>T
|
rs184561703
|
0.00003
|
|
NM_207361.6(FREM2):c.3497G>A (p.Arg1166His)
|
rs193921142
|
0.00003
|
|
NM_000044.6(AR):c.1651G>C (p.Asp551His)
|
rs777461721
|
0.00002
|
|
NM_000044.6(AR):c.1885+3718A>G
|
rs889696386
|
0.00002
|
|
NM_000044.6(AR):c.7G>A (p.Val3Met)
|
rs778912582
|
0.00002
|
|
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)
|
rs28897709
|
0.00002
|
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
|
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe)
|
rs750671399
|
0.00002
|
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
|
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr)
|
rs587781760
|
0.00002
|
|
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe)
|
rs876660249
|
0.00002
|
|
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=)
|
rs1057522378
|
0.00002
|
|
NM_000059.4(BRCA2):c.8331+3A>C
|
rs876659382
|
0.00002
|
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
0.00002
|
|
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)
|
rs72656307
|
0.00002
|
|
NM_000314.8(PTEN):c.-765G>A
|
rs587776674
|
0.00002
|
|
NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp)
|
rs193921082
|
0.00002
|
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
|
NM_000845.3(GRM8):c.2554C>T (p.Arg852Cys)
|
rs139289550
|
0.00002
|
|
NM_001024845.3(SLC6A9):c.577G>A (p.Glu193Lys)
|
rs193921002
|
0.00002
|
|
NM_001033578.3(SGK3):c.782A>G (p.His261Arg)
|
rs193920898
|
0.00002
|
|
NM_001039372.4(HEPACAM2):c.80-41G>A
|
rs193921119
|
0.00002
|
|
NM_001323032.3(SV2B):c.1537C>T (p.Arg513Trp)
|
rs193920952
|
0.00002
|
|
NM_001346516.2(LCOR):c.2564G>A (p.Arg855His)
|
rs746615879
|
0.00002
|
|
NM_002253.4(KDR):c.2360G>A (p.Arg787Gln)
|
rs193921127
|
0.00002
|
|
NM_002332.3(LRP1):c.2309G>A (p.Arg770Gln)
|
rs769851229
|
0.00002
|
|
NM_002485.5(NBN):c.1925A>G (p.Lys642Arg)
|
rs587781547
|
0.00002
|
|
NM_003041.4(SLC5A2):c.395G>A (p.Arg132His)
|
rs193920818
|
0.00002
|
|
NM_003739.6(AKR1C3):c.27G>T (p.Lys9Asn)
|
rs193920842
|
0.00002
|
|
NM_004360.5(CDH1):c.2371C>T (p.Leu791Phe)
|
rs786202598
|
0.00002
|
|
NM_004360.5(CDH1):c.2595G>C (p.Trp865Cys)
|
rs778019174
|
0.00002
|
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
|
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)
|
rs371657037
|
0.00002
|
|
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys)
|
rs149991239
|
0.00002
|
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
|
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)
|
rs587782347
|
0.00002
|
|
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)
|
rs587780194
|
0.00002
|
|
NM_012295.4(CABIN1):c.3907G>A (p.Glu1303Lys)
|
rs193920999
|
0.00002
|
|
NM_014289.4(CAPN6):c.1757G>A (p.Arg586Gln)
|
rs193921059
|
0.00002
|
|
NM_173728.4(ARHGEF15):c.1897C>T (p.Arg633Trp)
|
rs193921031
|
0.00002
|
|
NM_178468.6(FAM83C):c.863G>A (p.Arg288His)
|
rs193920940
|
0.00002
|
|
NM_181808.4(POLN):c.2267G>A (p.Arg756Gln)
|
rs193920976
|
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.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
|
NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=)
|
rs779075029
|
0.00001
|
|
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=)
|
rs786201237
|
0.00001
|
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
|
NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter)
|
rs397507634
|
0.00001
|
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
rs397507295
|
0.00001
|
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
0.00001
|
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
rs80358679
|
0.00001
|
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
|
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr)
|
rs377639990
|
0.00001
|
|
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=)
|
rs762458631
|
0.00001
|
|
NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln)
|
rs41293467
|
0.00001
|
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
|
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)
|
rs80358767
|
0.00001
|
|
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val)
|
rs397507360
|
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.5962G>A (p.Val1988Ile)
|
rs28897739
|
0.00001
|
|
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=)
|
rs750651726
|
0.00001
|
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
rs431825344
|
0.00001
|
|
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile)
|
rs786203098
|
0.00001
|
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
|
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly)
|
rs80358966
|
0.00001
|
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
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.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
|
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr)
|
rs80359077
|
0.00001
|
|
NM_000059.4(BRCA2):c.8518A>G (p.Ile2840Val)
|
rs80359103
|
0.00001
|
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
|
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)
|
rs876658365
|
0.00001
|
|
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe)
|
rs200598289
|
0.00001
|
|
NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs)
|
rs63751327
|
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_000546.6(TP53):c.523C>T (p.Arg175Cys)
|
rs138729528
|
0.00001
|
|
NM_000546.6(TP53):c.578A>C (p.His193Pro)
|
rs786201838
|
0.00001
|
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
|
NM_000546.6(TP53):c.716A>C (p.Asn239Thr)
|
rs1057519999
|
0.00001
|
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
|
NM_001001966.2(OR14A16):c.341C>T (p.Thr114Met)
|
rs193920961
|
0.00001
|
|
NM_001004459.2(OR1S2):c.463A>G (p.Ile155Val)
|
rs193921006
|
0.00001
|
|
NM_001005270.4(OR4C12):c.74C>T (p.Thr25Met)
|
rs193920780
|
0.00001
|
|
NM_001007228.2(SPOP):c.342C>G (p.Thr114=)
|
rs758435270
|
0.00001
|
|
NM_001007228.2(SPOP):c.353-17T>G
|
rs1378635756
|
0.00001
|
|
NM_001007228.2(SPOP):c.353-32C>T
|
rs772247872
|
0.00001
|
|
NM_001007228.2(SPOP):c.384C>T (p.Gly128=)
|
rs1464021387
|
0.00001
|
|
NM_001007525.5(NWD1):c.3668A>G (p.Asn1223Ser)
|
rs193920843
|
0.00001
|
|
NM_001007561.3(IRGQ):c.1795G>A (p.Gly599Ser)
|
rs193920821
|
0.00001
|
|
NM_001025231.3(KPRP):c.743G>A (p.Arg248His)
|
rs193921023
|
0.00001
|
|
NM_001029884.3(PLEKHG1):c.2293C>T (p.Arg765Trp)
|
rs193920959
|
0.00001
|
|
NM_001038.6(SCNN1A):c.1129A>G (p.Ile377Val)
|
rs193920773
|
0.00001
|
|
NM_001085377.2(MCC):c.800G>A (p.Arg267His)
|
rs760873189
|
0.00001
|
|
NM_001127392.3(MYRF):c.1256C>T (p.Thr419Met)
|
rs193921094
|
0.00001
|
|
NM_001191057.4(PDE1C):c.335G>A (p.Arg112Gln)
|
rs193921048
|
0.00001
|
|
NM_001198950.3(MYO16):c.3494T>G (p.Leu1165Trp)
|
rs193921058
|
0.00001
|
|
NM_001282426.2(PIK3CG):c.1414C>T (p.Arg472Cys)
|
rs864622026
|
0.00001
|
|
NM_001371727.1(GABRB2):c.577C>T (p.Arg193Cys)
|
rs193920932
|
0.00001
|
|
NM_001379270.1(CNGA1):c.1421G>A (p.Arg474His)
|
rs759487836
|
0.00001
|
|
NM_001906.6(CTRB1):c.633C>T (p.Gly211=)
|
rs193920783
|
0.00001
|
|
NM_002839.4(PTPRD):c.5692C>T (p.Arg1898Cys)
|
rs150063446
|
0.00001
|
|
NM_003052.5(SLC34A1):c.13G>A (p.Gly5Arg)
|
rs193920767
|
0.00001
|
|
NM_003488.4(AKAP1):c.239A>G (p.Lys80Arg)
|
rs148312142
|
0.00001
|
|
NM_003722.5(TP63):c.677G>A (p.Arg226His)
|
rs193921145
|
0.00001
|
|
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)
|
rs587780784
|
0.00001
|
|
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile)
|
rs556110297
|
0.00001
|
|
NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser)
|
rs773441320
|
0.00001
|
|
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met)
|
rs587778170
|
0.00001
|
|
NM_004360.5(CDH1):c.1773C>T (p.Asn591=)
|
rs373719554
|
0.00001
|
|
NM_004360.5(CDH1):c.1843A>G (p.Ile615Val)
|
rs1003012321
|
0.00001
|
|
NM_004360.5(CDH1):c.2046G>A (p.Glu682=)
|
rs753209043
|
0.00001
|
|
NM_004360.5(CDH1):c.2358C>T (p.Asp786=)
|
rs760701558
|
0.00001
|
|
NM_004360.5(CDH1):c.2398C>T (p.Arg800Cys)
|
rs587782162
|
0.00001
|
|
NM_004360.5(CDH1):c.2543T>C (p.Leu848Pro)
|
rs767315263
|
0.00001
|
|
NM_004360.5(CDH1):c.2602C>A (p.Arg868Ser)
|
rs864622630
|
0.00001
|
|
NM_004360.5(CDH1):c.604G>A (p.Val202Ile)
|
rs546716073
|
0.00001
|
|
NM_004360.5(CDH1):c.631A>G (p.Thr211Ala)
|
rs587781766
|
0.00001
|
|
NM_004665.6(VNN2):c.450C>A (p.Asp150Glu)
|
rs864622023
|
0.00001
|
|
NM_004962.5(GDF10):c.1217C>T (p.Ala406Val)
|
rs140410142
|
0.00001
|
|
NM_005441.3(CHAF1B):c.862A>G (p.Thr288Ala)
|
rs193921141
|
0.00001
|
|
NM_005732.4(RAD50):c.1513A>G (p.Ile505Val)
|
rs193921012
|
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_006260.5(DNAJC3):c.580C>T (p.Arg194Ter)
|
rs727502865
|
0.00001
|
|
NM_006361.6(HOXB13):c.*114C>A
|
rs1597932155
|
0.00001
|
|
NM_006361.6(HOXB13):c.167C>T (p.Ser56Leu)
|
rs1597934937
|
0.00001
|
|
NM_006361.6(HOXB13):c.246C>T (p.Tyr82=)
|
rs1597934677
|
0.00001
|
|
NM_006361.6(HOXB13):c.94C>T (p.Pro32Ser)
|
rs1597935135
|
0.00001
|
|
NM_007046.4(EMILIN1):c.197G>A (p.Arg66Gln)
|
rs753987568
|
0.00001
|
|
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser)
|
rs730881705
|
0.00001
|
|
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
|
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu)
|
rs121908703
|
0.00001
|
|
NM_007194.4(CHEK2):c.1096-6T>G
|
rs1180195480
|
0.00001
|
|
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu)
|
rs730881690
|
0.00001
|
|
NM_007194.4(CHEK2):c.1376-13A>G
|
rs1064793330
|
0.00001
|
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
|
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter)
|
rs756250205
|
0.00001
|
|
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)
|
rs17882942
|
0.00001
|
|
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe)
|
rs730881695
|
0.00001
|
|
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
|
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln)
|
rs587781667
|
0.00001
|
|
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu)
|
rs781678896
|
0.00001
|
|
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val)
|
rs587780185
|
0.00001
|
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
|
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp)
|
rs587780190
|
0.00001
|
|
NM_014649.3(SAFB2):c.1367C>T (p.Ser456Leu)
|
rs193920906
|
0.00001
|
|
NM_014766.5(SCRN1):c.1223C>T (p.Thr408Met)
|
rs193920979
|
0.00001
|
|
NM_014766.5(SCRN1):c.178G>A (p.Asp60Asn)
|
rs864622024
|
0.00001
|
|
NM_015419.4(MXRA5):c.5788G>A (p.Ala1930Thr)
|
rs193920874
|
0.00001
|
|
NM_015525.4(IBTK):c.3506A>T (p.Asn1169Ile)
|
rs193921029
|
0.00001
|
|
NM_016179.4(TRPC4):c.523C>T (p.Arg175Cys)
|
rs193920981
|
0.00001
|
|
NM_016218.6(POLK):c.1284G>A (p.Ala428=)
|
rs770984846
|
0.00001
|
|
NM_016247.4(IMPG2):c.1265C>T (p.Pro422Leu)
|
rs193920760
|
0.00001
|
|
NM_016281.4(TAOK3):c.512T>C (p.Met171Thr)
|
rs864622030
|
0.00001
|
|
NM_018127.6(ELAC2):c.1641dup (p.His548Alafs)
|
rs387906327
|
0.00001
|
|
NM_020856.4(TSHZ3):c.1181C>T (p.Ser394Leu)
|
rs193921027
|
0.00001
|
|
NM_022163.4(MRPL46):c.289C>T (p.Arg97Ter)
|
rs193920884
|
0.00001
|
|
NM_022785.4(EFCAB6):c.314C>T (p.Pro105Leu)
|
rs193920984
|
0.00001
|
|
NM_024012.4(HTR5A):c.79G>C (p.Asp27His)
|
rs193920930
|
0.00001
|
|
NM_030782.5(CLPTM1L):c.749G>A (p.Arg250His)
|
rs193920801
|
0.00001
|
|
NM_030904.2(OR2T1):c.-18G>A
|
rs193920936
|
0.00001
|
|
NM_031272.5(TEX14):c.3172-1908C>T
|
rs193920796
|
0.00001
|
|
NM_032383.5(HPS3):c.1509+6C>G
|
rs193920800
|
0.00001
|
|
NM_033004.4(NLRP1):c.2818C>T (p.Arg940Ter)
|
rs193920788
|
0.00001
|
|
NM_033427.3(CTTNBP2):c.3823G>A (p.Glu1275Lys)
|
rs750789291
|
0.00001
|
|
NM_054106.1(OR5AC2):c.730G>A (p.Gly244Ser)
|
rs193920759
|
0.00001
|
|
NM_133473.4(ZNF431):c.1021G>A (p.Glu341Lys)
|
rs193921015
|
0.00001
|
|
NM_144685.5(HIPK4):c.1279G>A (p.Asp427Asn)
|
rs193920880
|
0.00001
|
|
NM_153021.5(PLB1):c.3195+7C>A
|
rs193921064
|
0.00001
|
|
NM_176889.4(TAS2R20):c.254C>G (p.Ser85Cys)
|
rs193920802
|
0.00001
|
|
NM_182932.3(SLC8A3):c.1690G>A (p.Val564Ile)
|
rs76086886
|
0.00001
|
|
NC_000008.11:g.127273164ATAA[1]
|
rs201885483
|
|
|
NM_000044.6(AR):c.1025C>T (p.Pro342Leu)
|
rs138454018
|
|
|
NM_000044.6(AR):c.1370GCG[19] (p.Gly472_Gly473dup)
|
rs746853821
|
|
|
NM_000044.6(AR):c.154_220del (p.Ala52fs)
|
|
|
|
NM_000044.6(AR):c.161TGC[5] (p.Leu57dup)
|
rs752055010
|
|
|
NM_000044.6(AR):c.171GCA[14] (p.Gln72_Gln80del)
|
rs3032358
|
|
|
NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del)
|
rs3032358
|
|
|
NM_000044.6(AR):c.171GCA[22] (p.Gln80del)
|
rs3032358
|
|
|
NM_000044.6(AR):c.171GCA[32] (p.Gln72_Gln80dup)
|
rs3032358
|
|
|
NM_000044.6(AR):c.171GCA[35] (p.Gln69_Gln80dup)
|
rs3032358
|
|
|
NM_000044.6(AR):c.171GCA[36] (p.Gln68_Gln80dup)
|
rs3032358
|
|
|
NM_000044.6(AR):c.2105T>A (p.Leu702His)
|
rs864622007
|
|
|
NM_000044.6(AR):c.2599G>A (p.Val867Met)
|
rs137852564
|
|
|
NM_000044.6(AR):c.2629T>C (p.Phe877Leu)
|
rs1057519864
|
|
|
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)
|
rs886039637
|
|
|
NM_000051.4(ATM):c.4236+1G>T
|
rs876660674
|
|
|
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter)
|
rs1555103301
|
|
|
NM_000051.4(ATM):c.5339T>G (p.Phe1780Cys)
|
rs2083497990
|
|
|
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_000051.4(ATM):c.8623A>C (p.Asn2875His)
|
rs1057519869
|
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
|
NM_000059.4(BRCA2):c.-39-1_-39del
|
rs758732038
|
|
|
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)
|
rs587782016
|
|
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
rs80358391
|
|
|
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)
|
rs431825280
|
|
|
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)
|
rs547590567
|
|
|
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)
|
rs398122725
|
|
|
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)
|
rs80358427
|
|
|
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)
|
rs431825282
|
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
|
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)
|
rs1249900164
|
|
|
NM_000059.4(BRCA2):c.15del (p.Glu7fs)
|
rs1064795072
|
|
|
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)
|
rs80359302
|
|
|
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)
|
rs276174813
|
|
|
NM_000059.4(BRCA2):c.1889del (p.Thr630fs)
|
rs80359315
|
|
|
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)
|
rs1555282154
|
|
|
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.2224C>T (p.Gln742Ter)
|
rs80358494
|
|
|
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)
|
rs397507282
|
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
|
NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val)
|
rs1555282574
|
|
|
NM_000059.4(BRCA2):c.2279del (p.Leu760fs)
|
rs886038071
|
|
|
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)
|
rs80359328
|
|
|
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)
|
rs876661089
|
|
|
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)
|
rs80358512
|
|
|
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)
|
rs80358526
|
|
|
NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter)
|
rs397507296
|
|
|
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs)
|
rs80359365
|
|
|
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val)
|
rs1566227648
|
|
|
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.3222dup (p.Ser1075Ter)
|
|
|
|
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter)
|
rs80358573
|
|
|
NM_000059.4(BRCA2):c.3631G>T (p.Glu1211Ter)
|
rs886040486
|
|
|
NM_000059.4(BRCA2):c.3722_3723insA (p.Phe1241fs)
|
|
|
|
NM_000059.4(BRCA2):c.3723T>G (p.Phe1241Leu)
|
rs587782723
|
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
|
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile)
|
rs876658938
|
|
|
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.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.4310G>C (p.Ser1437Thr)
|
rs1403318277
|
|
|
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile)
|
rs1555283763
|
|
|
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)
|
rs397507336
|
|
|
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs)
|
rs2137510225
|
|
|
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)
|
rs876659201
|
|
|
NM_000059.4(BRCA2):c.4851dup (p.Asp1618Ter)
|
|
|
|
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)
|
rs786203494
|
|
|
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=)
|
rs370591460
|
|
|
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_5224del
|
rs80359497
|
|
|
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del)
|
rs397507349
|
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
|
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)
|
rs80359503
|
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
|
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=)
|
rs80359793
|
|
|
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.5747A>G (p.His1916Arg)
|
rs431825334
|
|
|
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.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.5986G>T (p.Ala1996Ser)
|
rs80358833
|
|
|
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=)
|
rs786201328
|
|
|
NM_000059.4(BRCA2):c.610dup (p.Leu204fs)
|
rs80359560
|
|
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
rs80358854
|
|
|
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.6530T>C (p.Ile2177Thr)
|
rs1060502462
|
|
|
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.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
|
NM_000059.4(BRCA2):c.6787delinsTT (p.Val2263fs)
|
|
|
|
NM_000059.4(BRCA2):c.68-7dup
|
rs276174878
|
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
|
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys)
|
rs587782174
|
|
|
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr)
|
rs80358907
|
|
|
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.7163C>T (p.Thr2388Ile)
|
rs1555286026
|
|
|
NM_000059.4(BRCA2):c.7409dup (p.Thr2471fs)
|
rs397507915
|
|
|
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)
|
rs876659222
|
|
|
NM_000059.4(BRCA2):c.7617+2T>G
|
rs81002843
|
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
|
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys)
|
rs764761862
|
|
|
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg)
|
rs876660874
|
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
|
NM_000059.4(BRCA2):c.7903G>T (p.Glu2635Ter)
|
|
|
|
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met)
|
rs1466452770
|
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
|
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)
|
rs80359800
|
|
|
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)
|
rs143999963
|
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
|
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile)
|
rs80359062
|
|
|
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.8482A>G (p.Ile2828Val)
|
rs80359098
|
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
|
NM_000059.4(BRCA2):c.8672C>G (p.Thr2891Arg)
|
rs1401510742
|
|
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
rs397507409
|
|
|
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn)
|
rs397507414
|
|
|
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)
|
rs397508010
|
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
|
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs)
|
rs80359734
|
|
|
NM_000059.4(BRCA2):c.9010_9013del (p.Lys3004fs)
|
|
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
|
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr)
|
rs587781493
|
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
|
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs)
|
rs276174918
|
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
|
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)
|
rs80359195
|
|
|
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp)
|
rs1555289516
|
|
|
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_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter)
|
rs80359230
|
|
|
NM_000077.5(CDKN2A):c.239G>A (p.Arg80Gln)
|
rs1057519883
|
|
|
NM_000093.5(COL5A1):c.3055C>G (p.Pro1019Ala)
|
rs193920927
|
|
|
NM_000110.4(DPYD):c.1340-3C>G
|
rs193920862
|
|
|
NM_000130.5(F5):c.2127G>A (p.Met709Ile)
|
rs193920869
|
|
|
NM_000176.3(NR3C1):c.1244G>T (p.Gly415Val)
|
rs193921137
|
|
|
NM_000179.3(MSH6):c.1510A>C (p.Lys504Gln)
|
rs1553412902
|
|
|
NM_000181.4(GUSB):c.1253T>G (p.Phe418Cys)
|
rs193920810
|
|
|
NM_000226.4(KRT9):c.1141G>T (p.Glu381Ter)
|
rs193920878
|
|
|
NM_000283.4(PDE6B):c.1401+8_1401+9insA
|
rs193920816
|
|
|
NM_000314.4(PTEN):c.-1154G>A
|
rs786203674
|
|
|
NM_000314.4(PTEN):c.-1246C>G
|
rs1554889801
|
|
|
NM_000314.6(PTEN):c.-868G>C
|
rs587782133
|
|
|
NM_000314.8(PTEN):c.-752G>A
|
rs1256922808
|
|
|
NM_000314.8(PTEN):c.-752GGC[4]
|
rs933847861
|
|
|
NM_000314.8(PTEN):c.-822G>T
|
rs587779993
|
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
|
NM_000314.8(PTEN):c.1189C>T (p.His397Tyr)
|
rs1589669413
|
|
|
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)
|
rs398123317
|
|
|
NM_000314.8(PTEN):c.209+1G>A
|
rs1554897280
|
|
|
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro)
|
rs121909226
|
|
|
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr)
|
rs1554897856
|
|
|
NM_000314.8(PTEN):c.253+2T>A
|
rs1224040268
|
|
|
NM_000314.8(PTEN):c.254-13_254-12del
|
|
|
|
NM_000314.8(PTEN):c.254-16dup
|
|
|
|
NM_000314.8(PTEN):c.254-22T>A
|
|
|
|
NM_000314.8(PTEN):c.254-23C>A
|
|
|
|
NM_000314.8(PTEN):c.254-5dup
|
|
|
|
NM_000314.8(PTEN):c.254-7A>T
|
|
|
|
NM_000314.8(PTEN):c.254-8del
|
|
|
|
NM_000314.8(PTEN):c.255del (p.Ala86fs)
|
|
|
|
NM_000314.8(PTEN):c.260A>T (p.Gln87Leu)
|
|
|
|
NM_000314.8(PTEN):c.270del (p.Phe90fs)
|
rs1114167678
|
|
|
NM_000314.8(PTEN):c.285del (p.Pro96fs)
|
|
|
|
NM_000314.8(PTEN):c.291G>A (p.Gln97=)
|
rs1564829889
|
|
|
NM_000314.8(PTEN):c.298C>A (p.Leu100Ile)
|
|
|
|
NM_000314.8(PTEN):c.306del (p.Lys102fs)
|
rs587782641
|
|
|
NM_000314.8(PTEN):c.306dup (p.Pro103fs)
|
|
|
|
NM_000314.8(PTEN):c.315T>A (p.Cys105Ter)
|
|
|
|
NM_000314.8(PTEN):c.315T>C (p.Cys105=)
|
|
|
|
NM_000314.8(PTEN):c.315T>G (p.Cys105Trp)
|
|
|
|
NM_000314.8(PTEN):c.318_319insT (p.Asp107Ter)
|
|
|
|
NM_000314.8(PTEN):c.318_320delinsCTT (p.Glu106_Asp107delinsAspPhe)
|
|
|
|
NM_000314.8(PTEN):c.318dup (p.Asp107fs)
|
|
|
|
NM_000314.8(PTEN):c.319G>C (p.Asp107His)
|
|
|
|
NM_000314.8(PTEN):c.319_320insT (p.Asp107fs)
|
|
|
|
NM_000314.8(PTEN):c.322C>T (p.Leu108Phe)
|
|
|
|
NM_000314.8(PTEN):c.323_326delinsCC (p.Leu108fs)
|
|
|
|
NM_000314.8(PTEN):c.326A>C (p.Asp109Ala)
|
|
|
|
NM_000314.8(PTEN):c.331del (p.Trp111fs)
|
|
|
|
NM_000314.8(PTEN):c.333dup (p.Leu112fs)
|
|
|
|
NM_000314.8(PTEN):c.334C>A (p.Leu112Ile)
|
|
|
|
NM_000314.8(PTEN):c.334C>G (p.Leu112Val)
|
rs2132242699
|
|
|
NM_000314.8(PTEN):c.334del (p.Trp111_Leu112insTer)
|
|
|
|
NM_000314.8(PTEN):c.338del (p.Ser113fs)
|
|
|
|
NM_000314.8(PTEN):c.339T>A (p.Ser113Arg)
|
|
|
|
NM_000314.8(PTEN):c.339T>G (p.Ser113Arg)
|
|
|
|
NM_000314.8(PTEN):c.342A>C (p.Glu114Asp)
|
|
|
|
NM_000314.8(PTEN):c.343del (p.Asp115fs)
|
|
|
|
NM_000314.8(PTEN):c.344del (p.Asp115fs)
|
|
|
|
NM_000314.8(PTEN):c.345T>A (p.Asp115Glu)
|
rs2132242798
|
|
|
NM_000314.8(PTEN):c.350del (p.Asn117fs)
|
|
|
|
NM_000314.8(PTEN):c.353A>T (p.His118Leu)
|
|
|
|
NM_000314.8(PTEN):c.356_357insC (p.Ala120fs)
|
|
|
|
NM_000314.8(PTEN):c.357dup (p.Ala120fs)
|
|
|
|
NM_000314.8(PTEN):c.360_361insC (p.Ala121fs)
|
|
|
|
NM_000314.8(PTEN):c.361G>A (p.Ala121Thr)
|
|
|
|
NM_000314.8(PTEN):c.361G>C (p.Ala121Pro)
|
|
|
|
NM_000314.8(PTEN):c.361del (p.Ala121fs)
|
|
|
|
NM_000314.8(PTEN):c.364A>C (p.Ile122Leu)
|
|
|
|
NM_000314.8(PTEN):c.365T>A (p.Ile122Asn)
|
|
|
|
NM_000314.8(PTEN):c.366dup (p.His123fs)
|
|
|
|
NM_000314.8(PTEN):c.367dup (p.His123fs)
|
|
|
|
NM_000314.8(PTEN):c.368A>C (p.His123Pro)
|
|
|
|
NM_000314.8(PTEN):c.368del (p.His123fs)
|
|
|
|
NM_000314.8(PTEN):c.372T>G (p.Cys124Trp)
|
|
|
|
NM_000314.8(PTEN):c.372del (p.His123_Cys124insTer)
|
|
|
|
NM_000314.8(PTEN):c.375del (p.Ala126fs)
|
|
|
|
NM_000314.8(PTEN):c.376del (p.Ala126fs)
|
|
|
|
NM_000314.8(PTEN):c.380G>C (p.Gly127Ala)
|
|
|
|
NM_000314.8(PTEN):c.383del (p.Lys128fs)
|
|
|
|
NM_000314.8(PTEN):c.383dup (p.Arg130fs)
|
|
|
|
NM_000314.8(PTEN):c.387_427del (p.Arg130fs)
|
|
|
|
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly)
|
rs121909224
|
|
|
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
|
rs121909229
|
|
|
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro)
|
rs121909229
|
|
|
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)
|
rs121909229
|
|
|
NM_000314.8(PTEN):c.390_391delinsGG (p.Thr131Ala)
|
|
|
|
NM_000314.8(PTEN):c.391dup (p.Thr131fs)
|
|
|
|
NM_000314.8(PTEN):c.393_394delinsAA (p.Gly132Ser)
|
|
|
|
NM_000314.8(PTEN):c.395G>C (p.Gly132Ala)
|
|
|
|
NM_000314.8(PTEN):c.396del (p.Gly132_Val133insTer)
|
|
|
|
NM_000314.8(PTEN):c.398_399del (p.Val133fs)
|
|
|
|
NM_000314.8(PTEN):c.398del (p.Val133fs)
|
|
|
|
NM_000314.8(PTEN):c.400del (p.Val133_Met134insTer)
|
|
|
|
NM_000314.8(PTEN):c.401_402delinsA (p.Met134fs)
|
|
|
|
NM_000314.8(PTEN):c.403dup (p.Ile135fs)
|
|
|
|
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys)
|
rs370795352
|
|
|
NM_000314.8(PTEN):c.404dup (p.Cys136fs)
|
|
|
|
NM_000314.8(PTEN):c.406del (p.Cys136fs)
|
|
|
|
NM_000314.8(PTEN):c.407del (p.Cys136fs)
|
|
|
|
NM_000314.8(PTEN):c.409dup (p.Ala137fs)
|
|
|
|
NM_000314.8(PTEN):c.419T>C (p.Leu140Ser)
|
|
|
|
NM_000314.8(PTEN):c.422del (p.His141fs)
|
|
|
|
NM_000314.8(PTEN):c.424dup (p.Arg142fs)
|
|
|
|
NM_000314.8(PTEN):c.427_428insA (p.Gly143fs)
|
|
|
|
NM_000314.8(PTEN):c.427_428insCCAATGCTGCAACGAATGTCATCTTATTAAACC (p.Gly143delinsAlaAsnAlaAlaThrAsnValIleLeuLeuAsnArg)
|
|
|
|
NM_000314.8(PTEN):c.428_429delinsAA (p.Gly143Glu)
|
|
|
|
NM_000314.8(PTEN):c.428_430delinsC (p.Gly143fs)
|
|
|
|
NM_000314.8(PTEN):c.428del (p.Gly143fs)
|
rs2132243612
|
|
|
NM_000314.8(PTEN):c.429C>A (p.Gly143=)
|
|
|
|
NM_000314.8(PTEN):c.429del (p.Lys144fs)
|
|
|
|
NM_000314.8(PTEN):c.430_431delinsC (p.Lys144fs)
|
|
|
|
NM_000314.8(PTEN):c.431A>C (p.Lys144Thr)
|
|
|
|
NM_000314.8(PTEN):c.431A>G (p.Lys144Arg)
|
|
|
|
NM_000314.8(PTEN):c.432A>C (p.Lys144Asn)
|
|
|
|
NM_000314.8(PTEN):c.432A>T (p.Lys144Asn)
|
|
|
|
NM_000314.8(PTEN):c.432_433insGA (p.Phe145fs)
|
|
|
|
NM_000314.8(PTEN):c.432_435delinsGAGG (p.Phe145Arg)
|
|
|
|
NM_000314.8(PTEN):c.432dup (p.Phe145fs)
|
|
|
|
NM_000314.8(PTEN):c.433T>A (p.Phe145Ile)
|
|
|
|
NM_000314.8(PTEN):c.433T>G (p.Phe145Val)
|
|
|
|
NM_000314.8(PTEN):c.433_436delinsGGG (p.Phe145fs)
|
|
|
|
NM_000314.8(PTEN):c.433_437delinsAGGG (p.Phe145fs)
|
|
|
|
NM_000314.8(PTEN):c.435_436inv (p.Phe145_Leu146delinsLeuIle)
|
|
|
|
NM_000314.8(PTEN):c.435delinsCA (p.Leu146fs)
|
|
|
|
NM_000314.8(PTEN):c.437_438del (p.Phe145_Leu146insTer)
|
|
|
|
NM_000314.8(PTEN):c.438A>G (p.Leu146=)
|
|
|
|
NM_000314.8(PTEN):c.438_439delinsGG (p.Lys147Glu)
|
|
|
|
NM_000314.8(PTEN):c.439_440insG (p.Lys147fs)
|
|
|
|
NM_000314.8(PTEN):c.440del (p.Lys147fs)
|
rs2132243722
|
|
|
NM_000314.8(PTEN):c.442_443insAGC (p.Ala148delinsGluPro)
|
|
|
|
NM_000314.8(PTEN):c.442del (p.Ala148fs)
|
|
|
|
NM_000314.8(PTEN):c.443del (p.Ala148fs)
|
|
|
|
NM_000314.8(PTEN):c.445del (p.Gln149fs)
|
|
|
|
NM_000314.8(PTEN):c.448G>A (p.Glu150Lys)
|
|
|
|
NM_000314.8(PTEN):c.448del (p.Glu150fs)
|
|
|
|
NM_000314.8(PTEN):c.454C>G (p.Leu152Val)
|
|
|
|
NM_000314.8(PTEN):c.454del (p.Ala151_Leu152insTer)
|
|
|
|
NM_000314.8(PTEN):c.456del (p.Asp153fs)
|
|
|
|
NM_000314.8(PTEN):c.457del (p.Asp153fs)
|
|
|
|
NM_000314.8(PTEN):c.459T>A (p.Asp153Glu)
|
|
|
|
NM_000314.8(PTEN):c.461_462insTC (p.Tyr155fs)
|
|
|
|
NM_000314.8(PTEN):c.461del (p.Phe154fs)
|
|
|
|
NM_000314.8(PTEN):c.462C>A (p.Phe154Leu)
|
|
|
|
NM_000314.8(PTEN):c.462C>T (p.Phe154=)
|
rs1859982800
|
|
|
NM_000314.8(PTEN):c.462dup (p.Tyr155fs)
|
|
|
|
NM_000314.8(PTEN):c.463del (p.Tyr155fs)
|
rs2132243942
|
|
|
NM_000314.8(PTEN):c.465dup (p.Gly156fs)
|
|
|
|
NM_000314.8(PTEN):c.469_470del (p.Glu157fs)
|
|
|
|
NM_000314.8(PTEN):c.469_470insT (p.Glu157fs)
|
|
|
|
NM_000314.8(PTEN):c.471del (p.Glu157_Val158insTer)
|
|
|
|
NM_000314.8(PTEN):c.472_474delinsAGG (p.Val158Arg)
|
|
|
|
NM_000314.8(PTEN):c.473T>C (p.Val158Ala)
|
|
|
|
NM_000314.8(PTEN):c.473del (p.Val158fs)
|
|
|
|
NM_000314.8(PTEN):c.475del (p.Arg159fs)
|
|
|
|
NM_000314.8(PTEN):c.476G>A (p.Arg159Lys)
|
rs1114167673
|
|
|
NM_000314.8(PTEN):c.478_479delinsGA (p.Thr160Asp)
|
|
|
|
NM_000314.8(PTEN):c.480C>A (p.Thr160=)
|
|
|
|
NM_000314.8(PTEN):c.481A>C (p.Arg161=)
|
|
|
|
NM_000314.8(PTEN):c.481A>G (p.Arg161Gly)
|
|
|
|
NM_000314.8(PTEN):c.488A>G (p.Lys163Arg)
|
rs786202753
|
|
|
NM_000314.8(PTEN):c.491A>G (p.Lys164Arg)
|
|
|
|
NM_000314.8(PTEN):c.492+23del
|
|
|
|
NM_000314.8(PTEN):c.492+28T>C
|
|
|
|
NM_000314.8(PTEN):c.492+34T>C
|
|
|
|
NM_000314.8(PTEN):c.492+5del
|
|
|
|
NM_000314.8(PTEN):c.492+7del
|
|
|
|
NM_000314.8(PTEN):c.493-1856_493-1854delinsTGG
|
|
|
|
NM_000314.8(PTEN):c.493-3148_493-1857del
|
|
|
|
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)
|
rs786204865
|
|
|
NM_000314.8(PTEN):c.593T>C (p.Met198Thr)
|
rs1554900635
|
|
|
NM_000314.8(PTEN):c.634+5G>A
|
rs138336847
|
|
|
NM_000314.8(PTEN):c.654C>A (p.Cys218Ter)
|
rs1554825165
|
|
|
NM_000314.8(PTEN):c.698G>A (p.Arg233Gln)
|
rs770025422
|
|
|
NM_000314.8(PTEN):c.741dup (p.Pro248fs)
|
rs587782341
|
|
|
NM_000314.8(PTEN):c.764T>G (p.Val255Gly)
|
|
|
|
NM_000314.8(PTEN):c.802-3dup
|
rs34003473
|
|
|
NM_000314.8(PTEN):c.802-4_802-3dup
|
rs34003473
|
|
|
NM_000314.8(PTEN):c.823del (p.Trp274_Val275insTer)
|
rs1860617439
|
|
|
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)
|
rs863224909
|
|
|
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys)
|
rs1554825528
|
|
|
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn)
|
rs587780007
|
|
|
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys)
|
rs1064794436
|
|
|
NM_000322.5(PRPH2):c.997G>A (p.Glu333Lys)
|
rs193921105
|
|
|
NM_000325.6(PITX2):c.580G>A (p.Ala194Thr)
|
rs193920830
|
|
|
NM_000346.4(SOX9):c.61G>A (p.Ala21Thr)
|
rs193920972
|
|
|
NM_000435.3(NOTCH3):c.146G>T (p.Cys49Phe)
|
rs193921045
|
|
|
NM_000503.6(EYA1):c.1107G>T (p.Leu369Phe)
|
rs193920835
|
|
|
NM_000506.5(F2):c.734del (p.Leu245fs)
|
rs193920779
|
|
|
NM_000546.6(TP53):c.376-11T>C
|
|
|
|
NM_000546.6(TP53):c.376-11del
|
|
|
|
NM_000546.6(TP53):c.376-12del
|
|
|
|
NM_000546.6(TP53):c.376-12dup
|
|
|
|
NM_000546.6(TP53):c.376-13C>T
|
rs2073407612
|
|
|
NM_000546.6(TP53):c.376-2A>C
|
rs786202799
|
|
|
NM_000546.6(TP53):c.376-2del
|
|
|
|
NM_000546.6(TP53):c.376-36dup
|
|
|
|
NM_000546.6(TP53):c.376-3del
|
|
|
|
NM_000546.6(TP53):c.376-3delinsAG
|
|
|
|
NM_000546.6(TP53):c.376-48T>A
|
|
|
|
NM_000546.6(TP53):c.376-4A>C
|
|
|
|
NM_000546.6(TP53):c.376-4_376-3delinsTA
|
|
|
|
NM_000546.6(TP53):c.376-6C>G
|
|
|
|
NM_000546.6(TP53):c.376-6_376-5insG
|
|
|
|
NM_000546.6(TP53):c.376-6del
|
|
|
|
NM_000546.6(TP53):c.376-8del
|
|
|
|
NM_000546.6(TP53):c.376-8dup
|
|
|
|
NM_000546.6(TP53):c.376-9T>C
|
|
|
|
NM_000546.6(TP53):c.376_377delinsCT (p.Tyr126Leu)
|
|
|
|
NM_000546.6(TP53):c.376delinsAG (p.Tyr126fs)
|
|
|
|
NM_000546.6(TP53):c.376delinsGG (p.Tyr126fs)
|
|
|
|
NM_000546.6(TP53):c.377dup (p.Tyr126Ter)
|
|
|
|
NM_000546.6(TP53):c.378C>A (p.Tyr126Ter)
|
rs1567554500
|
|
|
NM_000546.6(TP53):c.379dup (p.Ser127fs)
|
|
|
|
NM_000546.6(TP53):c.382C>T (p.Pro128Ser)
|
|
|
|
NM_000546.6(TP53):c.383del (p.Pro128fs)
|
rs1597371666
|
|
|
NM_000546.6(TP53):c.383dup (p.Ala129fs)
|
|
|
|
NM_000546.6(TP53):c.386_387insA (p.Leu130fs)
|
|
|
|
NM_000546.6(TP53):c.387C>T (p.Ala129=)
|
|
|
|
NM_000546.6(TP53):c.388_390delinsGAT (p.Leu130Asp)
|
|
|
|
NM_000546.6(TP53):c.388del (p.Leu130fs)
|
rs2151033977
|
|
|
NM_000546.6(TP53):c.388dup (p.Leu130fs)
|
|
|
|
NM_000546.6(TP53):c.390C>G (p.Leu130=)
|
|
|
|
NM_000546.6(TP53):c.392del (p.Asn131fs)
|
|
|
|
NM_000546.6(TP53):c.393del (p.Asn131fs)
|
rs1567554408
|
|
|
NM_000546.6(TP53):c.395del (p.Lys132fs)
|
|
|
|
NM_000546.6(TP53):c.396_397insT (p.Met133fs)
|
|
|
|
NM_000546.6(TP53):c.398T>G (p.Met133Arg)
|
|
|
|
NM_000546.6(TP53):c.401_402delinsCTG (p.Phe134fs)
|
|
|
|
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.409dup (p.Leu137fs)
|
|
|
|
NM_000546.6(TP53):c.413C>G (p.Ala138Gly)
|
rs750600586
|
|
|
NM_000546.6(TP53):c.413_414insG (p.Lys139fs)
|
|
|
|
NM_000546.6(TP53):c.413delinsTG (p.Ala138fs)
|
|
|
|
NM_000546.6(TP53):c.415_416delinsG (p.Lys139fs)
|
|
|
|
NM_000546.6(TP53):c.417_418insT (p.Thr140fs)
|
|
|
|
NM_000546.6(TP53):c.421T>A (p.Cys141Ser)
|
rs1057519978
|
|
|
NM_000546.6(TP53):c.421T>C (p.Cys141Arg)
|
rs1057519978
|
|
|
NM_000546.6(TP53):c.421T>G (p.Cys141Gly)
|
rs1057519978
|
|
|
NM_000546.6(TP53):c.421del (p.Cys141fs)
|
|
|
|
NM_000546.6(TP53):c.421dup (p.Cys141fs)
|
|
|
|
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)
|
rs587781288
|
|
|
NM_000546.6(TP53):c.422G>T (p.Cys141Phe)
|
rs587781288
|
|
|
NM_000546.6(TP53):c.422_423insT (p.Val143fs)
|
|
|
|
NM_000546.6(TP53):c.422dup (p.Cys141fs)
|
rs2073394466
|
|
|
NM_000546.6(TP53):c.423C>G (p.Cys141Trp)
|
rs1057519977
|
|
|
NM_000546.6(TP53):c.424_425del (p.Pro142fs)
|
|
|
|
NM_000546.6(TP53):c.427G>C (p.Val143Leu)
|
|
|
|
NM_000546.6(TP53):c.427_428insC (p.Val143fs)
|
|
|
|
NM_000546.6(TP53):c.428T>A (p.Val143Glu)
|
|
|
|
NM_000546.6(TP53):c.428del (p.Val143fs)
|
|
|
|
NM_000546.6(TP53):c.428dup (p.Gln144fs)
|
|
|
|
NM_000546.6(TP53):c.431A>G (p.Gln144Arg)
|
|
|
|
NM_000546.6(TP53):c.431del (p.Gln144fs)
|
|
|
|
NM_000546.6(TP53):c.432_433delinsCA (p.Gln144_Leu145delinsHisMet)
|
|
|
|
NM_000546.6(TP53):c.432del (p.Gln144fs)
|
|
|
|
NM_000546.6(TP53):c.433del (p.Leu145fs)
|
|
|
|
NM_000546.6(TP53):c.435_436delinsAAG (p.Trp146fs)
|
|
|
|
NM_000546.6(TP53):c.441T>G (p.Val147=)
|
|
|
|
NM_000546.6(TP53):c.443A>T (p.Asp148Val)
|
|
|
|
NM_000546.6(TP53):c.453C>A (p.Pro151=)
|
|
|
|
NM_000546.6(TP53):c.454C>A (p.Pro152Thr)
|
|
|
|
NM_000546.6(TP53):c.457C>G (p.Pro153Ala)
|
|
|
|
NM_000546.6(TP53):c.457_458insATGTCGCCACGCGGTCCGAC (p.Pro153fs)
|
|
|
|
NM_000546.6(TP53):c.460_462delinsAT (p.Gly154fs)
|
|
|
|
NM_000546.6(TP53):c.461_462delinsAT (p.Gly154Asp)
|
|
|
|
NM_000546.6(TP53):c.461_462delinsCAT (p.Gly154fs)
|
|
|
|
NM_000546.6(TP53):c.461_463delinsCAT (p.Gly154_Thr155delinsAlaSer)
|
|
|
|
NM_000546.6(TP53):c.461delinsAT (p.Gly154fs)
|
|
|
|
NM_000546.6(TP53):c.463del (p.Thr155fs)
|
|
|
|
NM_000546.6(TP53):c.476C>A (p.Ala159Asp)
|
rs1555526131
|
|
|
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)
|
rs193920817
|
|
|
NM_000546.6(TP53):c.490A>C (p.Lys164Gln)
|
|
|
|
NM_000546.6(TP53):c.491del (p.Lys164fs)
|
|
|
|
NM_000546.6(TP53):c.492_493delinsTT (p.Lys164_Gln165delinsAsnTer)
|
|
|
|
NM_000546.6(TP53):c.493delinsAA (p.Gln165fs)
|
|
|
|
NM_000546.6(TP53):c.495_499delinsCCCTA (p.Gln165_Gln167delinsHisProLys)
|
|
|
|
NM_000546.6(TP53):c.496T>G (p.Ser166Ala)
|
|
|
|
NM_000546.6(TP53):c.496_497insG (p.Ser166fs)
|
|
|
|
NM_000546.6(TP53):c.496_497insGC (p.Ser166fs)
|
|
|
|
NM_000546.6(TP53):c.498del (p.Gln167fs)
|
|
|
|
NM_000546.6(TP53):c.499_500del (p.Gln167fs)
|
|
|
|
NM_000546.6(TP53):c.502C>A (p.His168Asn)
|
|
|
|
NM_000546.6(TP53):c.503dup (p.His168fs)
|
|
|
|
NM_000546.6(TP53):c.511_512insC (p.Glu171fs)
|
|
|
|
NM_000546.6(TP53):c.516del (p.Val172_Val173insTer)
|
|
|
|
NM_000546.6(TP53):c.522del (p.Arg174fs)
|
|
|
|
NM_000546.6(TP53):c.522dup (p.Arg175fs)
|
|
|
|
NM_000546.6(TP53):c.523C>G (p.Arg175Gly)
|
rs138729528
|
|
|
NM_000546.6(TP53):c.526T>A (p.Cys176Ser)
|
rs967461896
|
|
|
NM_000546.6(TP53):c.526T>C (p.Cys176Arg)
|
rs967461896
|
|
|
NM_000546.6(TP53):c.526T>G (p.Cys176Gly)
|
rs967461896
|
|
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
rs786202962
|
|
|
NM_000546.6(TP53):c.527G>T (p.Cys176Phe)
|
rs786202962
|
|
|
NM_000546.6(TP53):c.528C>G (p.Cys176Trp)
|
rs1057519980
|
|
|
NM_000546.6(TP53):c.531C>A (p.Pro177=)
|
|
|
|
NM_000546.6(TP53):c.531CCA[1] (p.His179del)
|
|
|
|
NM_000546.6(TP53):c.532dup (p.His178fs)
|
|
|
|
NM_000546.6(TP53):c.533dup (p.His178fs)
|
|
|
|
NM_000546.6(TP53):c.539dup (p.Arg181fs)
|
|
|
|
NM_000546.6(TP53):c.545del (p.Cys182fs)
|
rs1567552584
|
|
|
NM_000546.6(TP53):c.546del (p.Ser183fs)
|
|
|
|
NM_000546.6(TP53):c.548_549insT (p.Asp184fs)
|
|
|
|
NM_000546.6(TP53):c.548dup (p.Asp184fs)
|
|
|
|
NM_000546.6(TP53):c.550G>C (p.Asp184His)
|
|
|
|
NM_000546.6(TP53):c.550_551insC (p.Asp184fs)
|
|
|
|
NM_000546.6(TP53):c.550del (p.Asp184fs)
|
|
|
|
NM_000546.6(TP53):c.550dup (p.Asp184fs)
|
|
|
|
NM_000546.6(TP53):c.554del (p.Ser185fs)
|
|
|
|
NM_000546.6(TP53):c.554dup (p.Ser185fs)
|
|
|
|
NM_000546.6(TP53):c.555dup (p.Asp186fs)
|
|
|
|
NM_000546.6(TP53):c.559+11G>T
|
|
|
|
NM_000546.6(TP53):c.559+35G>A
|
|
|
|
NM_000546.6(TP53):c.559+5del
|
|
|
|
NM_000546.6(TP53):c.577C>A (p.His193Asn)
|
rs876658468
|
|
|
NM_000546.6(TP53):c.577C>G (p.His193Asp)
|
rs876658468
|
|
|
NM_000546.6(TP53):c.577C>T (p.His193Tyr)
|
rs876658468
|
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
|
NM_000546.6(TP53):c.578A>T (p.His193Leu)
|
rs786201838
|
|
|
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.658T>A (p.Tyr220Asn)
|
rs530941076
|
|
|
NM_000546.6(TP53):c.658T>C (p.Tyr220His)
|
rs530941076
|
|
|
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp)
|
rs530941076
|
|
|
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser)
|
rs121912666
|
|
|
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.706T>A (p.Tyr236Asn)
|
rs587782289
|
|
|
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp)
|
rs587782289
|
|
|
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys)
|
rs730882026
|
|
|
NM_000546.6(TP53):c.714T>G (p.Cys238Trp)
|
rs193920789
|
|
|
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)
|
rs876660807
|
|
|
NM_000546.6(TP53):c.716A>G (p.Asn239Ser)
|
rs1057519999
|
|
|
NM_000546.6(TP53):c.733G>C (p.Gly245Arg)
|
rs28934575
|
|
|
NM_000546.6(TP53):c.733G>T (p.Gly245Cys)
|
rs28934575
|
|
|
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
|
rs121912656
|
|
|
NM_000546.6(TP53):c.734G>C (p.Gly245Ala)
|
rs121912656
|
|
|
NM_000546.6(TP53):c.734G>T (p.Gly245Val)
|
rs121912656
|
|
|
NM_000546.6(TP53):c.742C>G (p.Arg248Gly)
|
rs121912651
|
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
|
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.745A>G (p.Arg249Gly)
|
rs587782082
|
|
|
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)
|
rs587782082
|
|
|
NM_000546.6(TP53):c.746G>A (p.Arg249Lys)
|
rs587782329
|
|
|
NM_000546.6(TP53):c.746G>C (p.Arg249Thr)
|
rs587782329
|
|
|
NM_000546.6(TP53):c.746G>T (p.Arg249Met)
|
rs587782329
|
|
|
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)
|
rs193920774
|
|
|
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.820G>C (p.Val274Leu)
|
rs1057520005
|
|
|
NM_000546.6(TP53):c.820G>T (p.Val274Phe)
|
rs1057520005
|
|
|
NM_000546.6(TP53):c.821T>A (p.Val274Asp)
|
rs1057520006
|
|
|
NM_000546.6(TP53):c.821T>C (p.Val274Ala)
|
rs1057520006
|
|
|
NM_000546.6(TP53):c.821T>G (p.Val274Gly)
|
rs1057520006
|
|
|
NM_000546.6(TP53):c.839G>T (p.Arg280Ile)
|
rs121912660
|
|
|
NM_000546.6(TP53):c.844C>G (p.Arg282Gly)
|
rs28934574
|
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
|
NM_000554.6(CRX):c.107C>A (p.Pro36His)
|
rs193920917
|
|
|
NM_000701.8(ATP1A1):c.464C>T (p.Ser155Leu)
|
rs193920762
|
|
|
NM_000868.4(HTR2C):c.502C>T (p.Arg168Trp)
|
rs193920954
|
|
|
NM_000876.4(IGF2R):c.3670+2T>C
|
rs193920850
|
|
|
NM_000888.5(ITGB6):c.1460G>A (p.Gly487Glu)
|
rs193920975
|
|
|
NM_000921.5(PDE3A):c.2832G>C (p.Met944Ile)
|
rs567843370
|
|
|
NM_001004434.3(SLC30A2):c.655G>A (p.Ala219Thr)
|
rs864622019
|
|
|
NM_001004470.3(ST8SIA6):c.344G>T (p.Trp115Leu)
|
rs193920832
|
|
|
NM_001004699.3(OR2Z1):c.878G>T (p.Arg293Met)
|
rs193921073
|
|
|
NM_001004738.2(OR5L1):c.494G>T (p.Arg165Met)
|
rs193921144
|
|
|
NM_001005202.2(OR8K3):c.700C>A (p.Gln234Lys)
|
rs193920753
|
|
|
NM_001005279.3(OR6K2):c.947G>T (p.Arg316Ile)
|
rs193920807
|
|
|
NM_001007228.2(SPOP):c.201-10_201-9insA
|
rs2072169964
|
|
|
NM_001007228.2(SPOP):c.201-1G>C
|
rs2072169727
|
|
|
NM_001007228.2(SPOP):c.201-2A>G
|
rs2072169772
|
|
|
NM_001007228.2(SPOP):c.206_207insTC (p.Leu69fs)
|
rs2072169642
|
|
|
NM_001007228.2(SPOP):c.209G>C (p.Arg70Pro)
|
rs2072169466
|
|
|
NM_001007228.2(SPOP):c.210A>T (p.Arg70=)
|
rs2072169385
|
|
|
NM_001007228.2(SPOP):c.215A>C (p.Asn72Thr)
|
rs2072169299
|
|
|
NM_001007228.2(SPOP):c.227T>C (p.Leu76Ser)
|
rs2072169063
|
|
|
NM_001007228.2(SPOP):c.229G>A (p.Asp77Asn)
|
rs2072168946
|
|
|
NM_001007228.2(SPOP):c.229G>T (p.Asp77Tyr)
|
rs2072168946
|
|
|
NM_001007228.2(SPOP):c.230delinsGC (p.Asp77fs)
|
rs2072168867
|
|
|
NM_001007228.2(SPOP):c.231del (p.Asp77fs)
|
rs2072168797
|
|
|
NM_001007228.2(SPOP):c.236A>G (p.Glu79Gly)
|
rs2072168635
|
|
|
NM_001007228.2(SPOP):c.236A>T (p.Glu79Val)
|
rs2072168635
|
|
|
NM_001007228.2(SPOP):c.238del (p.Ser80fs)
|
rs2072168565
|
|
|
NM_001007228.2(SPOP):c.244G>C (p.Asp82His)
|
rs2072168475
|
|
|
NM_001007228.2(SPOP):c.245del (p.Asp82fs)
|
rs2072168401
|
|
|
NM_001007228.2(SPOP):c.246T>A (p.Asp82Glu)
|
rs2072168323
|
|
|
NM_001007228.2(SPOP):c.247del (p.Tyr83fs)
|
rs2072168249
|
|
|
NM_001007228.2(SPOP):c.250C>T (p.Leu84=)
|
rs780244378
|
|
|
NM_001007228.2(SPOP):c.251delinsGG (p.Leu84fs)
|
rs2072167947
|
|
|
NM_001007228.2(SPOP):c.252del (p.Ser85fs)
|
rs2072167867
|
|
|
NM_001007228.2(SPOP):c.254del (p.Ser85fs)
|
rs2072167784
|
|
|
NM_001007228.2(SPOP):c.254dup (p.Leu86fs)
|
rs2072167703
|
|
|
NM_001007228.2(SPOP):c.255A>T (p.Ser85=)
|
rs2072167477
|
|
|
NM_001007228.2(SPOP):c.255del (p.Leu86fs)
|
rs2072167625
|
|
|
NM_001007228.2(SPOP):c.255dup (p.Leu86fs)
|
rs2072167548
|
|
|
NM_001007228.2(SPOP):c.258T>C (p.Leu86=)
|
rs2072167401
|
|
|
NM_001007228.2(SPOP):c.259T>A (p.Tyr87Asn)
|
rs1057519972
|
|
|
NM_001007228.2(SPOP):c.259T>G (p.Tyr87Asp)
|
rs1057519972
|
|
|
NM_001007228.2(SPOP):c.259dup (p.Tyr87fs)
|
rs2072167329
|
|
|
NM_001007228.2(SPOP):c.260A>C (p.Tyr87Ser)
|
rs1057519971
|
|
|
NM_001007228.2(SPOP):c.260A>G (p.Tyr87Cys)
|
rs1057519971
|
|
|
NM_001007228.2(SPOP):c.260del (p.Tyr87fs)
|
rs2072167144
|
|
|
NM_001007228.2(SPOP):c.260dup (p.Tyr87Ter)
|
rs2072167062
|
|
|
NM_001007228.2(SPOP):c.263T>A (p.Leu88Gln)
|
rs2072166806
|
|
|
NM_001007228.2(SPOP):c.266T>G (p.Leu89Ter)
|
rs2072166478
|
|
|
NM_001007228.2(SPOP):c.266del (p.Leu89fs)
|
rs2072166564
|
|
|
NM_001007228.2(SPOP):c.267A>G (p.Leu89=)
|
rs2072166425
|
|
|
NM_001007228.2(SPOP):c.269del (p.Leu90fs)
|
rs2072166335
|
|
|
NM_001007228.2(SPOP):c.272dup (p.Ser92fs)
|
rs2072166246
|
|
|
NM_001007228.2(SPOP):c.273C>T (p.Val91=)
|
rs2072166000
|
|
|
NM_001007228.2(SPOP):c.273del (p.Ser92fs)
|
rs2072166130
|
|
|
NM_001007228.2(SPOP):c.274del (p.Ser92fs)
|
rs2072165869
|
|
|
NM_001007228.2(SPOP):c.276dup (p.Cys93fs)
|
rs2072165716
|
|
|
NM_001007228.2(SPOP):c.278del (p.Cys93fs)
|
rs2072165503
|
|
|
NM_001007228.2(SPOP):c.280C>T (p.Pro94Ser)
|
rs2072165416
|
|
|
NM_001007228.2(SPOP):c.281del (p.Pro94fs)
|
rs2072165338
|
|
|
NM_001007228.2(SPOP):c.282_283insC (p.Lys95fs)
|
rs2072165251
|
|
|
NM_001007228.2(SPOP):c.284del (p.Lys95fs)
|
rs2072165184
|
|
|
NM_001007228.2(SPOP):c.285dup (p.Ser96fs)
|
rs2072165101
|
|
|
NM_001007228.2(SPOP):c.287del (p.Ser96fs)
|
rs2072165021
|
|
|
NM_001007228.2(SPOP):c.288del (p.Ser96fs)
|
rs2072164911
|
|
|
NM_001007228.2(SPOP):c.289G>A (p.Glu97Lys)
|
rs2072164846
|
|
|
NM_001007228.2(SPOP):c.291A>G (p.Glu97=)
|
rs2072164774
|
|
|
NM_001007228.2(SPOP):c.293T>A (p.Val98Asp)
|
rs2072164630
|
|
|
NM_001007228.2(SPOP):c.295C>T (p.Arg99Trp)
|
rs866898949
|
|
|
NM_001007228.2(SPOP):c.297_298insA (p.Ala100fs)
|
rs2072164479
|
|
|
NM_001007228.2(SPOP):c.304T>G (p.Phe102Val)
|
rs1057519964
|
|
|
NM_001007228.2(SPOP):c.305T>G (p.Phe102Cys)
|
rs193920894
|
|
|
NM_001007228.2(SPOP):c.306C>G (p.Phe102Leu)
|
rs1057519965
|
|
|
NM_001007228.2(SPOP):c.308A>C (p.Lys103Thr)
|
rs2072164119
|
|
|
NM_001007228.2(SPOP):c.309del (p.Lys103fs)
|
rs2072164040
|
|
|
NM_001007228.2(SPOP):c.315del (p.Ile106fs)
|
rs2072163963
|
|
|
NM_001007228.2(SPOP):c.316del (p.Ile106fs)
|
rs2072163812
|
|
|
NM_001007228.2(SPOP):c.317T>C (p.Ile106Thr)
|
rs2072163730
|
|
|
NM_001007228.2(SPOP):c.321dup (p.Asn108fs)
|
rs2072163565
|
|
|
NM_001007228.2(SPOP):c.325G>T (p.Ala109Ser)
|
rs2072163482
|
|
|
NM_001007228.2(SPOP):c.327C>T (p.Ala109=)
|
rs2072163398
|
|
|
NM_001007228.2(SPOP):c.334G>A (p.Glu112Lys)
|
rs2072163247
|
|
|
NM_001007228.2(SPOP):c.337G>A (p.Glu113Lys)
|
rs2072163144
|
|
|
NM_001007228.2(SPOP):c.337G>C (p.Glu113Gln)
|
rs2072163144
|
|
|
NM_001007228.2(SPOP):c.343A>T (p.Lys115Ter)
|
rs2072162929
|
|
|
NM_001007228.2(SPOP):c.346G>A (p.Ala116Thr)
|
rs2072162818
|
|
|
NM_001007228.2(SPOP):c.346G>C (p.Ala116Pro)
|
rs2072162818
|
|
|
NM_001007228.2(SPOP):c.353-17T>A
|
rs1378635756
|
|
|
NM_001007228.2(SPOP):c.353-19T>G
|
rs2072158937
|
|
|
NM_001007228.2(SPOP):c.353-1G>A
|
rs2072157936
|
|
|
NM_001007228.2(SPOP):c.353-1G>T
|
rs2072157936
|
|
|
NM_001007228.2(SPOP):c.353-1del
|
rs2072157986
|
|
|
NM_001007228.2(SPOP):c.353-21C>A
|
rs2072159085
|
|
|
NM_001007228.2(SPOP):c.353-21C>G
|
rs2072159085
|
|
|
NM_001007228.2(SPOP):c.353-38C>G
|
rs575257727
|
|
|
NM_001007228.2(SPOP):c.353-39G>T
|
rs2072159591
|
|
|
NM_001007228.2(SPOP):c.353-48C>A
|
rs2072159923
|
|
|
NM_001007228.2(SPOP):c.353-51G>T
|
rs572136913
|
|
|
NM_001007228.2(SPOP):c.353-7A>C
|
rs2072158257
|
|
|
NM_001007228.2(SPOP):c.354G>A (p.Glu118=)
|
rs2072157795
|
|
|
NM_001007228.2(SPOP):c.354del (p.Ser119fs)
|
rs2072157870
|
|
|
NM_001007228.2(SPOP):c.355del (p.Ser119fs)
|
rs2072157721
|
|
|
NM_001007228.2(SPOP):c.355dup (p.Ser119fs)
|
rs2072157644
|
|
|
NM_001007228.2(SPOP):c.358del (p.Gln120fs)
|
rs2072157582
|
|
|
NM_001007228.2(SPOP):c.360del (p.Gln120fs)
|
rs2072157510
|
|
|
NM_001007228.2(SPOP):c.361C>T (p.Arg121Trp)
|
rs2072157444
|
|
|
NM_001007228.2(SPOP):c.365C>A (p.Ala122Glu)
|
rs2072157304
|
|
|
NM_001007228.2(SPOP):c.366A>C (p.Ala122=)
|
rs910219777
|
|
|
NM_001007228.2(SPOP):c.373T>C (p.Phe125Leu)
|
rs2072157028
|
|
|
NM_001007228.2(SPOP):c.375T>A (p.Phe125Leu)
|
rs2072156953
|
|
|
NM_001007228.2(SPOP):c.377T>G (p.Val126Gly)
|
rs2072156869
|
|
|
NM_001007228.2(SPOP):c.381A>G (p.Gln127=)
|
rs2072156652
|
|
|
NM_001007228.2(SPOP):c.384C>A (p.Gly128=)
|
rs1464021387
|
|
|
NM_001007228.2(SPOP):c.384C>G (p.Gly128=)
|
rs1464021387
|
|
|
NM_001007228.2(SPOP):c.384del (p.Asp130fs)
|
rs2072156505
|
|
|
NM_001007228.2(SPOP):c.386A>C (p.Lys129Thr)
|
rs2072156282
|
|
|
NM_001007228.2(SPOP):c.388G>A (p.Asp130Asn)
|
rs2072156166
|
|
|
NM_001007228.2(SPOP):c.388G>T (p.Asp130Tyr)
|
rs2072156166
|
|
|
NM_001007228.2(SPOP):c.391T>A (p.Trp131Arg)
|
rs1057519968
|
|
|
NM_001007228.2(SPOP):c.391T>G (p.Trp131Gly)
|
rs1057519968
|
|
|
NM_001007228.2(SPOP):c.392G>C (p.Trp131Ser)
|
rs1057519969
|
|
|
NM_001007228.2(SPOP):c.393G>T (p.Trp131Cys)
|
rs1057519970
|
|
|
NM_001007228.2(SPOP):c.397T>A (p.Phe133Ile)
|
rs1057519966
|
|
|
NM_001007228.2(SPOP):c.397T>C (p.Phe133Leu)
|
rs1057519966
|
|
|
NM_001007228.2(SPOP):c.397T>G (p.Phe133Val)
|
rs1057519966
|
|
|
NM_001007228.2(SPOP):c.398T>C (p.Phe133Ser)
|
rs1057519967
|
|
|
NM_001007228.2(SPOP):c.398T>G (p.Phe133Cys)
|
rs1057519967
|
|
|
NM_001007228.2(SPOP):c.399C>G (p.Phe133Leu)
|
rs193921065
|
|
|
NM_001007228.2(SPOP):c.399del (p.Phe133fs)
|
rs2072155403
|
|
|
NM_001007228.2(SPOP):c.400A>C (p.Lys134Gln)
|
rs2072155256
|
|
|
NM_001007228.2(SPOP):c.401A>G (p.Lys134Arg)
|
rs2072155115
|
|
|
NM_001007228.2(SPOP):c.401del (p.Lys134fs)
|
rs2072155189
|
|
|
NM_001007228.2(SPOP):c.402dup (p.Lys135fs)
|
rs2072155041
|
|
|
NM_001007228.2(SPOP):c.408C>A (p.Phe136Leu)
|
rs755810590
|
|
|
NM_001007228.2(SPOP):c.413G>A (p.Arg138His)
|
rs2072154717
|
|
|
NM_001007228.2(SPOP):c.414T>G (p.Arg138=)
|
rs888419251
|
|
|
NM_001007228.2(SPOP):c.416G>A (p.Arg139Lys)
|
rs2072154471
|
|
|
NM_001007228.2(SPOP):c.416del (p.Arg139fs)
|
rs2072154541
|
|
|
NM_001007228.2(SPOP):c.418del (p.Asp140fs)
|
rs2072154321
|
|
|
NM_001007228.2(SPOP):c.419A>C (p.Asp140Ala)
|
rs2072154226
|
|
|
NM_001007228.2(SPOP):c.420T>G (p.Asp140Glu)
|
rs2072154143
|
|
|
NM_001007228.2(SPOP):c.424C>T (p.Leu142Phe)
|
rs2072153959
|
|
|
NM_001007228.2(SPOP):c.427T>A (p.Leu143Met)
|
rs2072153847
|
|
|
NM_001007228.2(SPOP):c.428T>G (p.Leu143Trp)
|
rs1369267775
|
|
|
NM_001007228.2(SPOP):c.429_430del (p.Leu143_Asp144insTer)
|
rs2072153562
|
|
|
NM_001007228.2(SPOP):c.429_430insT (p.Asp144Ter)
|
rs2072153652
|
|
|
NM_001007228.2(SPOP):c.453T>G (p.Pro151=)
|
rs2072152852
|
|
|
NM_001007228.2(SPOP):c.453del (p.Asp152fs)
|
rs2072152923
|
|
|
NM_001007228.2(SPOP):c.454G>A (p.Asp152Asn)
|
rs2072152764
|
|
|
NM_001007228.2(SPOP):c.456T>A (p.Asp152Glu)
|
rs2072152576
|
|
|
NM_001007228.2(SPOP):c.456T>G (p.Asp152Glu)
|
rs2072152576
|
|
|
NM_001007228.2(SPOP):c.456del (p.Asp152fs)
|
rs2072152689
|
|
|
NM_001007228.2(SPOP):c.457del (p.Asp153fs)
|
rs2072152498
|
|
|
NM_001007228.2(SPOP):c.463C>T (p.Leu155Phe)
|
rs2072152422
|
|
|
NM_001007228.2(SPOP):c.464T>A (p.Leu155His)
|
rs2072152352
|
|
|
NM_001007228.2(SPOP):c.466A>C (p.Thr156Pro)
|
rs2072152226
|
|
|
NM_001007228.2(SPOP):c.466A>G (p.Thr156Ala)
|
rs2072152226
|
|
|
NM_001007228.2(SPOP):c.466A>T (p.Thr156Ser)
|
rs2072152226
|
|
|
NM_001007228.2(SPOP):c.469C>T (p.Leu157Phe)
|
rs2072152068
|
|
|
NM_001007228.2(SPOP):c.469del (p.Leu157fs)
|
rs2072152148
|
|
|
NM_001007228.2(SPOP):c.470T>C (p.Leu157Pro)
|
rs2072151912
|
|
|
NM_001007228.2(SPOP):c.470del (p.Leu157fs)
|
rs2072151984
|
|
|
NM_001007228.2(SPOP):c.472T>A (p.Phe158Ile)
|
rs2072151724
|
|
|
NM_001007228.2(SPOP):c.472T>C (p.Phe158Leu)
|
rs2072151724
|
|
|
NM_001007228.2(SPOP):c.473T>A (p.Phe158Tyr)
|
rs2072151628
|
|
|
NM_001007228.2(SPOP):c.473T>G (p.Phe158Cys)
|
rs2072151628
|
|
|
NM_001007228.2(SPOP):c.474C>A (p.Phe158Leu)
|
rs368288966
|
|
|
NM_001007228.2(SPOP):c.474C>G (p.Phe158Leu)
|
rs368288966
|
|
|
NM_001007228.2(SPOP):c.474del (p.Cys159fs)
|
rs2072151553
|
|
|
NM_001007228.2(SPOP):c.475del (p.Cys159fs)
|
rs2072151354
|
|
|
NM_001007228.2(SPOP):c.478G>A (p.Glu160Lys)
|
rs2072151207
|
|
|
NM_001007228.2(SPOP):c.480+1059A>G
|
rs1783574197
|
|
|
NM_001007228.2(SPOP):c.480+1065A>G
|
rs1305745002
|
|
|
NM_001007228.2(SPOP):c.480+1071G>T
|
rs1597921035
|
|
|
NM_001007228.2(SPOP):c.480+17T>G
|
rs2072150446
|
|
|
NM_001007228.2(SPOP):c.480+28G>C
|
rs2072150119
|
|
|
NM_001007228.2(SPOP):c.480+38G>A
|
rs2072149581
|
|
|
NM_001007228.2(SPOP):c.480+39A>T
|
rs2072149513
|
|
|
NM_001007228.2(SPOP):c.480+51T>G
|
rs2072149162
|
|
|
NM_001007228.2(SPOP):c.480+5G>T
|
rs2072151063
|
|
|
NM_001008938.4(CKAP5):c.721A>G (p.Lys241Glu)
|
rs193921076
|
|
|
NM_001008949.3(ITPRIPL1):c.1315G>A (p.Ala439Thr)
|
rs193921120
|
|
|
NM_001009925.2(TMEM230):c.152T>C (p.Val51Ala)
|
rs193920937
|
|
|
NM_001012302.3(ANO9):c.2046C>G (p.Asp682Glu)
|
rs193920739
|
|
|
NM_001018072.2(ABTB3):c.148A>G (p.Ser50Gly)
|
rs200629571
|
|
|
NM_001025231.3(KPRP):c.825T>A (p.Phe275Leu)
|
rs193920890
|
|
|
NM_001029864.2(KIAA1755):c.3089G>T (p.Gly1030Val)
|
rs193920749
|
|
|
NM_001032221.6(STXBP1):c.587A>G (p.Lys196Arg)
|
rs193921042
|
|
|
NM_001034954.3(SORBS1):c.3140G>C (p.Arg1047Pro)
|
rs193920900
|
|
|
NM_001039840.4(CHIC1):c.331C>T (p.Pro111Ser)
|
rs864622038
|
|
|
NM_001041.4(SI):c.2094C>A (p.Phe698Leu)
|
rs193921060
|
|
|
NM_001063.4(TF):c.1069G>T (p.Glu357Ter)
|
rs193921099
|
|
|
NM_001080.3(ALDH5A1):c.1608G>C (p.Ter536Tyr)
|
rs193920892
|
|
|
NM_001102564.3(IFT43):c.21G>T (p.Leu7Phe)
|
rs193921095
|
|
|
NM_001127173.3(CADM3):c.382G>C (p.Gly128Arg)
|
rs193920866
|
|
|
NM_001127255.2(NLRP7):c.1137G>C (p.Lys379Asn)
|
rs10418277
|
|
|
NM_001127258.3(HHIPL1):c.1471G>C (p.Gly491Arg)
|
rs193920989
|
|
|
NM_001128840.3(CACNA1D):c.3483del (p.Glu1162fs)
|
rs193920795
|
|
|
NM_001130021.3(ATP6V0A1):c.1023+1G>T
|
rs193920983
|
|
|
NM_001136049.3(LMLN):c.1093G>T (p.Gly365Cys)
|
rs193920933
|
|
|
NM_001142565.3(CPSF7):c.523+2dup
|
rs193920985
|
|
|
NM_001143688.3(DIS3L):c.3089G>A (p.Gly1030Glu)
|
rs193920782
|
|
|
NM_001143938.3(ZNF534):c.13C>A (p.Gln5Lys)
|
rs193921143
|
|
|
NM_001144068.2(ZNF772):c.10_11insGGC (p.Ala4delinsGlyPro)
|
rs193920834
|
|
|
NM_001146312.3(MYOCD):c.2678del (p.Lys893fs)
|
rs193920964
|
|
|
NM_001167856.3(SBNO1):c.132+4A>C
|
rs193920847
|
|
|
NM_001168221.2(C2CD6):c.5255T>C (p.Leu1752Ser)
|
rs193920769
|
|
|
NM_001184785.2(PARD3):c.572G>T (p.Cys191Phe)
|
rs193920777
|
|
|
NM_001184785.2(PARD3):c.573C>G (p.Cys191Trp)
|
rs193920776
|
|
|
NM_001184785.2(PARD3):c.684G>A (p.Met228Ile)
|
rs193921017
|
|
|
NM_001191061.2(SLC25A22):c.178G>T (p.Glu60Ter)
|
rs193920962
|
|
|
NM_001199823.3(NEDD8-MDP1):c.451C>G (p.Leu151Val)
|
rs193921062
|
|
|
NM_001206927.2(DNAH8):c.3333+7A>G
|
rs193921092
|
|
|
NM_001214909.2(ZNF48):c.1624C>T (p.Pro542Ser)
|
rs193921000
|
|
|
NM_001243.5(TNFRSF8):c.271G>T (p.Asp91Tyr)
|
rs193921033
|
|
|
NM_001243787.2(SMUG1):c.285+5A>T
|
rs193921126
|
|
|
NM_001245.7(SIGLEC6):c.883G>T (p.Ala295Ser)
|
rs370040093
|
|
|
NM_001248.4(ENTPD3):c.812T>A (p.Phe271Tyr)
|
rs193921050
|
|
|
NM_001251845.2(TRPC1):c.970C>T (p.Gln324Ter)
|
rs193920786
|
|
|
NM_001253697.2(ERBIN):c.3878A>T (p.Tyr1293Phe)
|
rs193921009
|
|
|
NM_001256732.3(SSBP2):c.743A>T (p.Tyr248Phe)
|
rs193920757
|
|
|
NM_001256864.2(DNAJC6):c.454C>T (p.Arg152Ter)
|
rs864622011
|
|
|
NM_001271.4(CHD2):c.2T>C (p.Met1Thr)
|
rs193920953
|
|
|
NM_001276277.3(PPIP5K2):c.2063-1_2065del
|
rs864622022
|
|
|
NM_001281956.2(CSMD2):c.7808G>T (p.Arg2603Leu)
|
rs193921034
|
|
|
NM_001286201.2(RERGL):c.412C>A (p.Gln138Lys)
|
rs193920908
|
|
|
NM_001286574.2(ARMC12):c.601G>T (p.Asp201Tyr)
|
rs193921111
|
|
|
NM_001288990.3(TSNAXIP1):c.1756G>A (p.Ala586Thr)
|
rs193921053
|
|
|
NM_001291415.2(KDM6A):c.4190del (p.Thr1397fs)
|
rs193921028
|
|
|
NM_001291415.2(KDM6A):c.453dup (p.Ala152fs)
|
rs193920970
|
|
|
NM_001318891.2(ZNF184):c.113C>A (p.Thr38Asn)
|
rs193921063
|
|
|
NM_001321645.3(ZNF224):c.1354G>A (p.Gly452Arg)
|
rs193921003
|
|
|
NM_001324445.2(ADAT1):c.674C>G (p.Pro225Arg)
|
rs193920811
|
|
|
NM_001330288.2(SMARCC2):c.3670A>C (p.Thr1224Pro)
|
rs864622039
|
|
|
NM_001346252.4(USP28):c.571C>T (p.Leu191Phe)
|
rs193920846
|
|
|
NM_001346311.2(ATG13):c.1576-1G>C
|
rs193920809
|
|
|
NM_001347886.2(DNAH3):c.6130C>A (p.His2044Asn)
|
rs193921090
|
|
|
NM_001347969.2(ENOX1):c.759_765del (p.Ser254fs)
|
rs193920792
|
|
|
NM_001347995.2(ENTREP1):c.1163-5del
|
rs193921010
|
|
|
NM_001348323.3(TRIP12):c.850C>A (p.Pro284Thr)
|
rs193921087
|
|
|
NM_001352913.2(PPP2R5C):c.880C>G (p.Leu294Val)
|
rs193920829
|
|
|
NM_001353214.3(DYM):c.1779C>G (p.Ile593Met)
|
rs193921113
|
|
|
NM_001366145.2(TRPM3):c.2815G>A (p.Gly939Arg)
|
rs193921019
|
|
|
NM_001366157.1(WDR49):c.2465C>A (p.Ser822Ter)
|
rs193921101
|
|
|
NM_001372.4(DNAH9):c.3184A>G (p.Ile1062Val)
|
rs193920997
|
|
|
NM_001375524.1(TRRAP):c.8474A>G (p.Gln2825Arg)
|
rs193920828
|
|
|
NM_001377142.1(PLCB4):c.408C>A (p.Phe136Leu)
|
rs193921109
|
|
|
NM_001377265.1(MAPT):c.100G>T (p.Asp34Tyr)
|
rs193920968
|
|
|
NM_001377265.1(MAPT):c.1059G>C (p.Glu353Asp)
|
rs193920969
|
|
|
NM_001377265.1(MAPT):c.69G>C (p.Arg23Ser)
|
rs193920967
|
|
|
NM_001378789.1(CERS3):c.609+7G>T
|
rs193921020
|
|
|
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)
|
rs121434592
|
|
|
NM_001384657.1(ARHGAP20):c.464T>C (p.Val155Ala)
|
rs193920992
|
|
|
NM_001385562.1(ARPP21):c.1355G>T (p.Gly452Val)
|
rs193920911
|
|
|
NM_001388308.1(KIF12):c.1698-4C>A
|
rs193920925
|
|
|
NM_001391906.1(EIF4G3):c.2710G>T (p.Asp904Tyr)
|
rs193921047
|
|
|
NM_001393499.1(BICRAL):c.1778A>G (p.Lys593Arg)
|
rs193921035
|
|
|
NM_001394062.1(MACF1):c.1508G>C (p.Arg503Thr)
|
rs193920913
|
|
|
NM_001496.4(GFRA3):c.1135C>A (p.Pro379Thr)
|
rs193921100
|
|
|
NM_001530.4(HIF1A):c.700G>A (p.Glu234Lys)
|
rs193920781
|
|
|
NM_001684.5(ATP2B4):c.999C>A (p.Asp333Glu)
|
rs193920934
|
|
|
NM_001735.3(C5):c.3286A>G (p.Asn1096Asp)
|
rs193920993
|
|
|
NM_001767.5(CD2):c.974G>C (p.Gly325Ala)
|
rs864622018
|
|
|
NM_001819.3(CHGB):c.1308A>C (p.Glu436Asp)
|
rs193921088
|
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
|
NM_001904.4(CTNNB1):c.109T>C (p.Ser37Pro)
|
rs121913228
|
|
|
NM_001904.4(CTNNB1):c.109T>G (p.Ser37Ala)
|
rs121913228
|
|
|
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr)
|
rs121913403
|
|
|
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys)
|
rs121913403
|
|
|
NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe)
|
rs121913403
|
|
|
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_001904.4(CTNNB1):c.94G>A (p.Asp32Asn)
|
rs28931588
|
|
|
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His)
|
rs28931588
|
|
|
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)
|
rs28931588
|
|
|
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala)
|
rs121913396
|
|
|
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly)
|
rs121913396
|
|
|
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val)
|
rs121913396
|
|
|
NM_001904.4(CTNNB1):c.97T>A (p.Ser33Thr)
|
rs1057519886
|
|
|
NM_001904.4(CTNNB1):c.97T>C (p.Ser33Pro)
|
rs1057519886
|
|
|
NM_001904.4(CTNNB1):c.97T>G (p.Ser33Ala)
|
rs1057519886
|
|
|
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)
|
rs121913400
|
|
|
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys)
|
rs121913400
|
|
|
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe)
|
rs121913400
|
|
|
NM_001910.4(CTSE):c.319G>A (p.Val107Met)
|
rs193920960
|
|
|
NM_001931.5(DLAT):c.1339T>C (p.Tyr447His)
|
rs193921135
|
|
|
NM_001982.4(ERBB3):c.2802G>C (p.Gln934His)
|
rs193920754
|
|
|
NM_001999.4(FBN2):c.6177A>C (p.Glu2059Asp)
|
rs193920763
|
|
|
NM_002029.4(FPR1):c.772C>T (p.Gln258Ter)
|
rs193920896
|
|
|
NM_002126.5(HLF):c.436dup (p.Ser146fs)
|
rs193920793
|
|
|
NM_002236.5(KCNF1):c.248C>T (p.Pro83Leu)
|
rs193920977
|
|
|
NM_002249.6(KCNN3):c.1448+1G>T
|
rs193920929
|
|
|
NM_002336.3(LRP6):c.3241C>G (p.Pro1081Ala)
|
rs193920743
|
|
|
NM_002472.3(MYH8):c.2339G>T (p.Arg780Ile)
|
rs193920854
|
|
|
NM_002485.5(NBN):c.244A>G (p.Lys82Glu)
|
rs193921030
|
|
|
NM_002524.5(NRAS):c.164T>C (p.Ile55Thr)
|
|
|
|
NM_002524.5(NRAS):c.180A>G (p.Gly60=)
|
|
|
|
NM_002612.4(PDK4):c.59T>G (p.Val20Gly)
|
rs864622014
|
|
|
NM_002715.4(PPP2CA):c.922_924del (p.Phe308del)
|
rs864622012
|
|
|
NM_002742.3(PRKD1):c.1993G>A (p.Asp665Asn)
|
rs193921103
|
|
|
NM_002755.4(MAP2K1):c.170A>C (p.Lys57Thr)
|
rs1057519909
|
|
|
NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn)
|
rs869025608
|
|
|
NM_002802.3(PSMC1):c.279+8G>A
|
rs193920988
|
|
|
NM_002872.5(RAC2):c.225+1G>A
|
rs193920791
|
|
|
NM_002940.3(ABCE1):c.708T>G (p.Asp236Glu)
|
rs193920849
|
|
|
NM_002960.2(S100A3):c.25G>T (p.Val9Leu)
|
rs193921084
|
|
|
NM_002974.4(SERPINB4):c.476T>A (p.Ile159Asn)
|
rs193921093
|
|
|
NM_003235.5(TG):c.3886T>A (p.Phe1296Ile)
|
rs193920926
|
|
|
NM_003325.4(HIRA):c.820G>A (p.Val274Met)
|
rs193920856
|
|
|
NM_003367.4(USF2):c.497G>A (p.Arg166Gln)
|
rs193920819
|
|
|
NM_003369.4(UVRAG):c.500A>G (p.Glu167Gly)
|
rs864622029
|
|
|
NM_003376.6(VEGFA):c.318del (p.Pro107fs)
|
|
|
|
NM_003376.6(VEGFA):c.324del (p.Gln108fs)
|
|
|
|
NM_003376.6(VEGFA):c.327del (p.Trp109fs)
|
|
|
|
NM_003376.6(VEGFA):c.330del (p.Leu111fs)
|
|
|
|
NM_003376.6(VEGFA):c.346C>G (p.Pro116Ala)
|
|
|
|
NM_003376.6(VEGFA):c.350del (p.Gly117fs)
|
|
|
|
NM_003376.6(VEGFA):c.367del (p.Ala123fs)
|
|
|
|
NM_003376.6(VEGFA):c.403G>C (p.Ala135Pro)
|
|
|
|
NM_003376.6(VEGFA):c.491del (p.Ser164fs)
|
|
|
|
NM_003376.6(VEGFA):c.506C>A (p.Ala169Glu)
|
|
|
|
NM_003400.4(XPO1):c.1711G>A (p.Glu571Lys)
|
rs1057520009
|
|
|
NM_003400.4(XPO1):c.1712A>C (p.Glu571Ala)
|
rs1057520010
|
|
|
NM_003400.4(XPO1):c.1712A>T (p.Glu571Val)
|
rs1057520010
|
|
|
NM_003437.5(ZNF136):c.883T>G (p.Leu295Val)
|
rs193921014
|
|
|
NM_003439.4(ZKSCAN1):c.1454G>A (p.Gly485Glu)
|
rs193920886
|
|
|
NM_003664.5(AP3B1):c.1526G>A (p.Arg509Gln)
|
rs193920974
|
|
|
NM_003716.4(CADPS):c.484G>A (p.Ala162Thr)
|
rs193921128
|
|
|
NM_004054.4(C3AR1):c.1148T>C (p.Val383Ala)
|
rs193921139
|
|
|
NM_004138.4(KRT33A):c.215A>G (p.Glu72Gly)
|
rs193921001
|
|
|
NM_004208.4(AIFM1):c.497C>T (p.Pro166Leu)
|
rs193920813
|
|
|
NM_004317.4(GET3):c.224C>G (p.Pro75Arg)
|
rs864622036
|
|
|
NM_004333.6(BRAF):c.1315-15A>T
|
|
|
|
NM_004333.6(BRAF):c.1315-35T>A
|
|
|
|
NM_004333.6(BRAF):c.1321C>T (p.Leu441Phe)
|
|
|
|
NM_004333.6(BRAF):c.1323T>G (p.Leu441=)
|
|
|
|
NM_004333.6(BRAF):c.1326T>G (p.Gly442=)
|
|
|
|
NM_004333.6(BRAF):c.1333G>T (p.Asp445Tyr)
|
|
|
|
NM_004333.6(BRAF):c.1335C>T (p.Asp445=)
|
|
|
|
NM_004333.6(BRAF):c.1337C>A (p.Ser446Ter)
|
|
|
|
NM_004333.6(BRAF):c.1338G>T (p.Ser446=)
|
|
|
|
NM_004333.6(BRAF):c.1339A>T (p.Ser447Cys)
|
|
|
|
NM_004333.6(BRAF):c.1342_1343insT (p.Asp448fs)
|
|
|
|
NM_004333.6(BRAF):c.1348_1349insC (p.Trp450fs)
|
|
|
|
NM_004333.6(BRAF):c.1351dup (p.Glu451fs)
|
|
|
|
NM_004333.6(BRAF):c.1353_1354insC (p.Ile452fs)
|
|
|
|
NM_004333.6(BRAF):c.1358C>T (p.Pro453Leu)
|
|
|
|
NM_004333.6(BRAF):c.1365del (p.Gln456fs)
|
|
|
|
NM_004333.6(BRAF):c.1367A>T (p.Gln456Leu)
|
|
|
|
NM_004333.6(BRAF):c.1368dup (p.Ile457fs)
|
|
|
|
NM_004333.6(BRAF):c.1371del (p.Thr458fs)
|
|
|
|
NM_004333.6(BRAF):c.1372A>C (p.Thr458Pro)
|
|
|
|
NM_004333.6(BRAF):c.1373del (p.Thr458fs)
|
|
|
|
NM_004333.6(BRAF):c.1375_1376insC (p.Val459fs)
|
|
|
|
NM_004333.6(BRAF):c.1375dup (p.Val459fs)
|
|
|
|
NM_004333.6(BRAF):c.1376T>G (p.Val459Gly)
|
|
|
|
NM_004333.6(BRAF):c.1377_1378insT (p.Gly460fs)
|
|
|
|
NM_004333.6(BRAF):c.1379G>A (p.Gly460Glu)
|
|
|
|
NM_004333.6(BRAF):c.1379del (p.Gly460fs)
|
|
|
|
NM_004333.6(BRAF):c.1388T>C (p.Ile463Thr)
|
|
|
|
NM_004333.6(BRAF):c.1389T>C (p.Ile463=)
|
|
|
|
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg)
|
rs121913349
|
|
|
NM_004333.6(BRAF):c.1395del (p.Gly466fs)
|
|
|
|
NM_004333.6(BRAF):c.1404T>G (p.Phe468Leu)
|
|
|
|
NM_004333.6(BRAF):c.1404_1405del (p.Phe468fs)
|
|
|
|
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg)
|
rs121913357
|
|
|
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)
|
rs121913355
|
|
|
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)
|
rs121913355
|
|
|
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val)
|
rs121913355
|
|
|
NM_004333.6(BRAF):c.1408A>G (p.Thr470Ala)
|
|
|
|
NM_004333.6(BRAF):c.1413C>T (p.Val471=)
|
|
|
|
NM_004333.6(BRAF):c.1415A>C (p.Tyr472Ser)
|
|
|
|
NM_004333.6(BRAF):c.1415A>G (p.Tyr472Cys)
|
rs1057519719
|
|
|
NM_004333.6(BRAF):c.1416_1417insT (p.Lys473Ter)
|
|
|
|
NM_004333.6(BRAF):c.1426T>G (p.Trp476Gly)
|
|
|
|
NM_004333.6(BRAF):c.1428_1429insA (p.His477fs)
|
|
|
|
NM_004333.6(BRAF):c.1430A>C (p.His477Pro)
|
|
|
|
NM_004333.6(BRAF):c.1432+102C>A
|
|
|
|
NM_004333.6(BRAF):c.1432+114A>G
|
|
|
|
NM_004333.6(BRAF):c.1432+120A>T
|
|
|
|
NM_004333.6(BRAF):c.1432+128C>T
|
|
|
|
NM_004333.6(BRAF):c.1432+136C>T
|
|
|
|
NM_004333.6(BRAF):c.1432+141A>C
|
|
|
|
NM_004333.6(BRAF):c.1432+142A>C
|
|
|
|
NM_004333.6(BRAF):c.1432+144G>A
|
|
|
|
NM_004333.6(BRAF):c.1432+157A>G
|
|
|
|
NM_004333.6(BRAF):c.1432+15T>A
|
|
|
|
NM_004333.6(BRAF):c.1432+176G>C
|
|
|
|
NM_004333.6(BRAF):c.1432+181C>T
|
|
|
|
NM_004333.6(BRAF):c.1432+18del
|
|
|
|
NM_004333.6(BRAF):c.1432+201A>T
|
|
|
|
NM_004333.6(BRAF):c.1432+20A>C
|
|
|
|
NM_004333.6(BRAF):c.1432+20A>G
|
|
|
|
NM_004333.6(BRAF):c.1432+20A>T
|
|
|
|
NM_004333.6(BRAF):c.1432+22A>T
|
|
|
|
NM_004333.6(BRAF):c.1432+230G>A
|
|
|
|
NM_004333.6(BRAF):c.1432+234T>A
|
|
|
|
NM_004333.6(BRAF):c.1432+237T>C
|
|
|
|
NM_004333.6(BRAF):c.1432+246A>G
|
|
|
|
NM_004333.6(BRAF):c.1432+276T>G
|
|
|
|
NM_004333.6(BRAF):c.1432+282C>T
|
|
|
|
NM_004333.6(BRAF):c.1432+296T>A
|
|
|
|
NM_004333.6(BRAF):c.1432+296T>C
|
|
|
|
NM_004333.6(BRAF):c.1432+298T>G
|
|
|
|
NM_004333.6(BRAF):c.1432+304G>T
|
|
|
|
NM_004333.6(BRAF):c.1432+306A>G
|
|
|
|
NM_004333.6(BRAF):c.1432+308T>A
|
|
|
|
NM_004333.6(BRAF):c.1432+33T>C
|
|
|
|
NM_004333.6(BRAF):c.1432+34C>G
|
|
|
|
NM_004333.6(BRAF):c.1432+34C>T
|
|
|
|
NM_004333.6(BRAF):c.1432+35A>G
|
|
|
|
NM_004333.6(BRAF):c.1432+38A>C
|
|
|
|
NM_004333.6(BRAF):c.1432+3A>T
|
|
|
|
NM_004333.6(BRAF):c.1432+41G>A
|
|
|
|
NM_004333.6(BRAF):c.1432+43A>T
|
|
|
|
NM_004333.6(BRAF):c.1432+46T>C
|
|
|
|
NM_004333.6(BRAF):c.1432+52A>T
|
|
|
|
NM_004333.6(BRAF):c.1432+65T>G
|
|
|
|
NM_004333.6(BRAF):c.1432+67T>C
|
|
|
|
NM_004333.6(BRAF):c.1432+8T>C
|
|
|
|
NM_004333.6(BRAF):c.1432+95C>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10145T>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10150C>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10155T>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10157C>G
|
|
|
|
NM_004333.6(BRAF):c.1695-10193A>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10204C>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10229T>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10233C>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10273A>G
|
|
|
|
NM_004333.6(BRAF):c.1695-10278G>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10286G>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10293G>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10295A>G
|
|
|
|
NM_004333.6(BRAF):c.1695-10306G>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10335A>G
|
|
|
|
NM_004333.6(BRAF):c.1695-10342T>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10345G>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10356G>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10377G>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10389T>C
|
|
|
|
NM_004333.6(BRAF):c.1695-10396G>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10408A>G
|
|
|
|
NM_004333.6(BRAF):c.1695-10455A>G
|
|
|
|
NM_004333.6(BRAF):c.1695-10462T>G
|
|
|
|
NM_004333.6(BRAF):c.1695-10468C>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10472del
|
|
|
|
NM_004333.6(BRAF):c.1742-10T>A
|
|
|
|
NM_004333.6(BRAF):c.1742-13T>G
|
|
|
|
NM_004333.6(BRAF):c.1742-15C>A
|
|
|
|
NM_004333.6(BRAF):c.1742-16del
|
|
|
|
NM_004333.6(BRAF):c.1742-1delinsTT
|
|
|
|
NM_004333.6(BRAF):c.1768dup (p.Val590fs)
|
|
|
|
NM_004333.6(BRAF):c.1769_1770insTTAGA (p.Val590_Lys591insTer)
|
|
|
|
NM_004333.6(BRAF):c.1771A>G (p.Lys591Glu)
|
|
|
|
NM_004333.6(BRAF):c.1776A>T (p.Ile592=)
|
|
|
|
NM_004333.6(BRAF):c.1778_1779insATG (p.Gly593_Asp594insCys)
|
|
|
|
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)
|
rs397516896
|
|
|
NM_004333.6(BRAF):c.1782_1783insATT (p.Asp594_Phe595insIle)
|
|
|
|
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)
|
rs794729219
|
|
|
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln)
|
rs121913366
|
|
|
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg)
|
rs121913366
|
|
|
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)
|
rs121913364
|
|
|
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr)
|
rs397507484
|
|
|
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn)
|
rs121913365
|
|
|
NM_004333.6(BRAF):c.1860+21del
|
|
|
|
NM_004333.6(BRAF):c.1860+38del
|
|
|
|
NM_004360.5(CDH1):c.1015C>G (p.Pro339Ala)
|
rs1555515709
|
|
|
NM_004360.5(CDH1):c.1020G>T (p.Thr340=)
|
rs61747632
|
|
|
NM_004360.5(CDH1):c.1107C>A (p.Asn369Lys)
|
|
|
|
NM_004360.5(CDH1):c.1145del (p.Gly382fs)
|
rs1555515863
|
|
|
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter)
|
rs587782798
|
|
|
NM_004360.5(CDH1):c.1234G>A (p.Val412Ile)
|
rs587782189
|
|
|
NM_004360.5(CDH1):c.1308G>A (p.Leu436=)
|
rs557551011
|
|
|
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs)
|
rs886039612
|
|
|
NM_004360.5(CDH1):c.1492G>A (p.Asp498Asn)
|
rs2152135021
|
|
|
NM_004360.5(CDH1):c.1680G>A (p.Thr560=)
|
rs35741240
|
|
|
NM_004360.5(CDH1):c.1741C>T (p.Leu581Phe)
|
rs1567512154
|
|
|
NM_004360.5(CDH1):c.1774G>T (p.Ala592Ser)
|
rs35187787
|
|
|
NM_004360.5(CDH1):c.1937-4C>T
|
rs1057523153
|
|
|
NM_004360.5(CDH1):c.202T>G (p.Tyr68Asp)
|
rs1060501218
|
|
|
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.2435A>G (p.Asp812Gly)
|
rs878854684
|
|
|
NM_004360.5(CDH1):c.2493C>T (p.Leu831=)
|
rs779267700
|
|
|
NM_004360.5(CDH1):c.2640G>A (p.Glu880=)
|
rs864622218
|
|
|
NM_004360.5(CDH1):c.382del (p.His128fs)
|
rs1555514492
|
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
|
NM_004385.5(VCAN):c.4616C>A (p.Pro1539His)
|
rs193920883
|
|
|
NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln)
|
rs1057519862
|
|
|
NM_004448.4(ERBB2):c.2706G>C (p.Gln902His)
|
rs193920750
|
|
|
NM_004519.4(KCNQ3):c.1346A>T (p.Asn449Ile)
|
rs193920887
|
|
|
NM_004569.5(PIGH):c.471C>G (p.Phe157Leu)
|
rs193920948
|
|
|
NM_004711.5(SYNGR1):c.483+1398C>T
|
rs193920982
|
|
|
NM_004713.6(NEMF):c.2431_2432del (p.Gln811fs)
|
rs864622015
|
|
|
NM_004774.4(MED1):c.632T>G (p.Leu211Arg)
|
rs193921049
|
|
|
NM_004853.3(STX8):c.434A>C (p.Gln145Pro)
|
rs193920742
|
|
|
NM_004946.3(DOCK2):c.3352G>T (p.Glu1118Ter)
|
rs864622013
|
|
|
NM_004984.4(KIF5A):c.2492C>T (p.Ser831Phe)
|
rs193920755
|
|
|
NM_004985.5(KRAS):c.-10C>G
|
|
|
|
NM_004985.5(KRAS):c.-11-10T>G
|
|
|
|
NM_004985.5(KRAS):c.-11-12T>A
|
|
|
|
NM_004985.5(KRAS):c.-11-12T>G
|
|
|
|
NM_004985.5(KRAS):c.-11-1G>C
|
|
|
|
NM_004985.5(KRAS):c.-11-21T>G
|
|
|
|
NM_004985.5(KRAS):c.-11-2A>C
|
|
|
|
NM_004985.5(KRAS):c.-11-2A>T
|
|
|
|
NM_004985.5(KRAS):c.-11-36C>T
|
|
|
|
NM_004985.5(KRAS):c.-11-4T>A
|
|
|
|
NM_004985.5(KRAS):c.-11-51del
|
|
|
|
NM_004985.5(KRAS):c.-11-7T>A
|
|
|
|
NM_004985.5(KRAS):c.-11-8A>C
|
|
|
|
NM_004985.5(KRAS):c.-11-8_-11-7insC
|
|
|
|
NM_004985.5(KRAS):c.-11G>A
|
|
|
|
NM_004985.5(KRAS):c.-6C>T
|
|
|
|
NM_004985.5(KRAS):c.107T>A (p.Ile36Lys)
|
|
|
|
NM_004985.5(KRAS):c.108delinsCC (p.Glu37fs)
|
|
|
|
NM_004985.5(KRAS):c.109G>T (p.Glu37Ter)
|
|
|
|
NM_004985.5(KRAS):c.109_110insC (p.Glu37fs)
|
|
|
|
NM_004985.5(KRAS):c.10T>A (p.Tyr4Asn)
|
|
|
|
NM_004985.5(KRAS):c.111+11T>C
|
|
|
|
NM_004985.5(KRAS):c.111+14del
|
|
|
|
NM_004985.5(KRAS):c.111+16A>G
|
|
|
|
NM_004985.5(KRAS):c.111+1G>C
|
|
|
|
NM_004985.5(KRAS):c.111+24A>G
|
|
|
|
NM_004985.5(KRAS):c.111+25T>C
|
|
|
|
NM_004985.5(KRAS):c.111+28C>T
|
|
|
|
NM_004985.5(KRAS):c.111+30G>T
|
|
|
|
NM_004985.5(KRAS):c.111+50T>A
|
|
|
|
NM_004985.5(KRAS):c.111+53A>G
|
|
|
|
NM_004985.5(KRAS):c.111+6T>C
|
|
|
|
NM_004985.5(KRAS):c.111+8T>C
|
|
|
|
NM_004985.5(KRAS):c.11A>T (p.Tyr4Phe)
|
|
|
|
NM_004985.5(KRAS):c.12T>A (p.Tyr4Ter)
|
|
|
|
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)
|
rs193929331
|
|
|
NM_004985.5(KRAS):c.13A>T (p.Lys5Ter)
|
|
|
|
NM_004985.5(KRAS):c.16C>T (p.Leu6Phe)
|
|
|
|
NM_004985.5(KRAS):c.1del (p.Met1*)
|
|
|
|
NM_004985.5(KRAS):c.21_22insT (p.Val8fs)
|
|
|
|
NM_004985.5(KRAS):c.24dup (p.Val9fs)
|
|
|
|
NM_004985.5(KRAS):c.27T>A (p.Val9=)
|
|
|
|
NM_004985.5(KRAS):c.27T>G (p.Val9=)
|
|
|
|
NM_004985.5(KRAS):c.27_28insCTC (p.Val9_Gly10insLeu)
|
|
|
|
NM_004985.5(KRAS):c.29_30insT (p.Ala11fs)
|
|
|
|
NM_004985.5(KRAS):c.29_31del (p.Gly10del)
|
|
|
|
NM_004985.5(KRAS):c.30A>G (p.Gly10=)
|
rs2135806293
|
|
|
NM_004985.5(KRAS):c.31G>T (p.Ala11Ser)
|
|
|
|
NM_004985.5(KRAS):c.33T>A (p.Ala11=)
|
|
|
|
NM_004985.5(KRAS):c.39C>T (p.Gly13=)
|
rs397517040
|
|
|
NM_004985.5(KRAS):c.42A>T (p.Val14=)
|
|
|
|
NM_004985.5(KRAS):c.43G>T (p.Gly15Cys)
|
|
|
|
NM_004985.5(KRAS):c.4del (p.Thr2fs)
|
|
|
|
NM_004985.5(KRAS):c.50G>T (p.Ser17Ile)
|
|
|
|
NM_004985.5(KRAS):c.5C>G (p.Thr2Ser)
|
|
|
|
NM_004985.5(KRAS):c.62T>A (p.Ile21Lys)
|
|
|
|
NM_004985.5(KRAS):c.65A>C (p.Gln22Pro)
|
|
|
|
NM_004985.5(KRAS):c.6T>G (p.Thr2=)
|
|
|
|
NM_004985.5(KRAS):c.74A>T (p.Gln25Leu)
|
|
|
|
NM_004985.5(KRAS):c.75G>A (p.Gln25=)
|
|
|
|
NM_004985.5(KRAS):c.77A>C (p.Asn26Thr)
|
|
|
|
NM_004985.5(KRAS):c.80A>G (p.His27Arg)
|
|
|
|
NM_004985.5(KRAS):c.80A>T (p.His27Leu)
|
|
|
|
NM_004985.5(KRAS):c.84T>A (p.Phe28Leu)
|
|
|
|
NM_004985.5(KRAS):c.84del (p.Phe28fs)
|
|
|
|
NM_004985.5(KRAS):c.90C>A (p.Asp30Glu)
|
|
|
|
NM_004985.5(KRAS):c.91G>T (p.Glu31Ter)
|
|
|
|
NM_004985.5(KRAS):c.95A>C (p.Tyr32Ser)
|
|
|
|
NM_004985.5(KRAS):c.99T>C (p.Asp33=)
|
|
|
|
NM_004985.5(KRAS):c.9dup (p.Tyr4fs)
|
|
|
|
NM_005015.5(OXA1L):c.1018A>G (p.Thr340Ala)
|
rs193921091
|
|
|
NM_005120.3(MED12):c.3670C>G (p.Leu1224Val)
|
rs1057519912
|
|
|
NM_005120.3(MED12):c.3670C>T (p.Leu1224Phe)
|
rs1057519912
|
|
|
NM_005225.3(E2F1):c.497G>A (p.Arg166His)
|
rs864622017
|
|
|
NM_005228.5(EGFR):c.2203G>A (p.Gly735Ser)
|
rs121913430
|
|
|
NM_005269.3(GLI1):c.530G>A (p.Cys177Tyr)
|
rs193921005
|
|
|
NM_005343.4(HRAS):c.144_145insC (p.Glu49fs)
|
|
|
|
NM_005343.4(HRAS):c.146del (p.Glu49fs)
|
|
|
|
NM_005343.4(HRAS):c.149delinsGA (p.Thr50fs)
|
|
|
|
NM_005343.4(HRAS):c.170A>C (p.Asp57Ala)
|
|
|
|
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu)
|
rs121913233
|
|
|
NM_005343.4(HRAS):c.183G>T (p.Gln61His)
|
rs121913496
|
|
|
NM_005343.4(HRAS):c.199A>T (p.Met67Leu)
|
|
|
|
NM_005343.4(HRAS):c.243G>T (p.Val81=)
|
|
|
|
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_005353.3(ITGAD):c.2836A>C (p.Lys946Gln)
|
rs193921125
|
|
|
NM_005359.6(SMAD4):c.1156G>A (p.Gly386Ser)
|
rs1057519962
|
|
|
NM_005359.6(SMAD4):c.1156G>T (p.Gly386Cys)
|
rs1057519962
|
|
|
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp)
|
rs121912580
|
|
|
NM_005359.6(SMAD4):c.1157G>C (p.Gly386Ala)
|
rs121912580
|
|
|
NM_005359.6(SMAD4):c.1157G>T (p.Gly386Val)
|
rs121912580
|
|
|
NM_005379.4(MYO1A):c.2887G>A (p.Val963Met)
|
rs193921066
|
|
|
NM_005398.7(PPP1R3C):c.458A>G (p.Gln153Arg)
|
rs193920921
|
|
|
NM_005414.5(SKIL):c.942A>T (p.Arg314Ser)
|
rs193920870
|
|
|
NM_005444.3(CNOT9):c.259T>C (p.Ser87Pro)
|
rs1057519956
|
|
|
NM_005444.3(CNOT9):c.260C>G (p.Ser87Cys)
|
rs1057519957
|
|
|
NM_005491.5(MAMLD1):c.*33G>T
|
rs193920839
|
|
|
NM_005618.4(DLL1):c.1711C>A (p.Leu571Met)
|
rs193920766
|
|
|
NM_005656.4(TMPRSS2):c.1222_1223del (p.Gln408fs)
|
rs193920966
|
|
|
NM_005683.4(GPR55):c.941C>T (p.Thr314Ile)
|
rs193920808
|
|
|
NM_005723.4(TSPAN5):c.268C>A (p.Leu90Ile)
|
rs193921080
|
|
|
NM_005762.3(TRIM28):c.2193+3G>T
|
rs193921106
|
|
|
NM_005802.5(TOPORS):c.2808A>C (p.Gln936His)
|
rs193920910
|
|
|
NM_005845.5(ABCC4):c.1645G>T (p.Val549Leu)
|
rs193921134
|
|
|
NM_005845.5(ABCC4):c.2672G>T (p.Arg891Leu)
|
rs781305510
|
|
|
NM_005884.5(PAK4):c.1504G>C (p.Gly502Arg)
|
rs193920877
|
|
|
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_005957.5(MTHFR):c.1739del (p.Phe580fs)
|
rs193921032
|
|
|
NM_005961.3(MUC6):c.4382C>T (p.Thr1461Ile)
|
rs148581741
|
|
|
NM_006086.4(TUBB3):c.1288G>C (p.Ala430Pro)
|
rs864622009
|
|
|
NM_006121.4(KRT1):c.757G>T (p.Asp253Tyr)
|
rs193921116
|
|
|
NM_006157.5(NELL1):c.1666G>T (p.Gly556Ter)
|
rs193920875
|
|
|
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.1624G>A (p.Glu542Lys)
|
rs121913273
|
|
|
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln)
|
rs121913273
|
|
|
NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala)
|
rs1057519927
|
|
|
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly)
|
rs1057519927
|
|
|
NM_006218.4(PIK3CA):c.1625A>T (p.Glu542Val)
|
rs1057519927
|
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
|
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)
|
rs104886003
|
|
|
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)
|
rs121913274
|
|
|
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)
|
rs121913274
|
|
|
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)
|
rs121913275
|
|
|
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)
|
rs121913286
|
|
|
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)
|
rs121913286
|
|
|
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro)
|
rs397517201
|
|
|
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg)
|
rs397517201
|
|
|
NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu)
|
rs397517201
|
|
|
NM_006218.4(PIK3CA):c.1638G>T (p.Gln546His)
|
rs1057519940
|
|
|
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)
|
rs121913287
|
|
|
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_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)
|
rs587777790
|
|
|
NM_006361.6(HOXB13):c.*103_*104del
|
rs1597932178
|
|
|
NM_006361.6(HOXB13):c.*105_*108del
|
rs1597932175
|
|
|
NM_006361.6(HOXB13):c.*108A>G
|
rs1597932173
|
|
|
NM_006361.6(HOXB13):c.*10T>C
|
rs1597932346
|
|
|
NM_006361.6(HOXB13):c.*110A>G
|
rs1597932167
|
|
|
NM_006361.6(HOXB13):c.*110A>T
|
rs1597932167
|
|
|
NM_006361.6(HOXB13):c.*115dup
|
rs1597932149
|
|
|
NM_006361.6(HOXB13):c.*118dup
|
rs1597932140
|
|
|
NM_006361.6(HOXB13):c.*119T>A
|
rs1597932135
|
|
|
NM_006361.6(HOXB13):c.*120_*121insG
|
rs1597932127
|
|
|
NM_006361.6(HOXB13):c.*121_*122insG
|
rs1597932120
|
|
|
NM_006361.6(HOXB13):c.*126dup
|
rs1597932115
|
|
|
NM_006361.6(HOXB13):c.*129dup
|
rs1597932111
|
|
|
NM_006361.6(HOXB13):c.*130C>A
|
rs1597932106
|
|
|
NM_006361.6(HOXB13):c.*131T>A
|
rs1597932102
|
|
|
NM_006361.6(HOXB13):c.*131T>C
|
rs1597932102
|
|
|
NM_006361.6(HOXB13):c.*131del
|
rs1597932103
|
|
|
NM_006361.6(HOXB13):c.*132G>A
|
rs1597932101
|
|
|
NM_006361.6(HOXB13):c.*132G>C
|
rs1597932101
|
|
|
NM_006361.6(HOXB13):c.*135T>G
|
rs1597932098
|
|
|
NM_006361.6(HOXB13):c.*136G>C
|
rs1597932093
|
|
|
NM_006361.6(HOXB13):c.*137C>A
|
rs1597932088
|
|
|
NM_006361.6(HOXB13):c.*137C>T
|
rs1597932088
|
|
|
NM_006361.6(HOXB13):c.*138T>G
|
rs925368689
|
|
|
NM_006361.6(HOXB13):c.*138del
|
rs1597932081
|
|
|
NM_006361.6(HOXB13):c.*140G>C
|
rs1597932075
|
|
|
NM_006361.6(HOXB13):c.*140G>T
|
rs1597932075
|
|
|
NM_006361.6(HOXB13):c.*142C>A
|
rs1597932068
|
|
|
NM_006361.6(HOXB13):c.*143del
|
rs1597932064
|
|
|
NM_006361.6(HOXB13):c.*146T>C
|
rs1597932057
|
|
|
NM_006361.6(HOXB13):c.*146T>G
|
rs1597932057
|
|
|
NM_006361.6(HOXB13):c.*146del
|
rs1597932061
|
|
|
NM_006361.6(HOXB13):c.*148C>A
|
rs900423192
|
|
|
NM_006361.6(HOXB13):c.*149_*150insG
|
rs1597932046
|
|
|
NM_006361.6(HOXB13):c.*149del
|
rs1597932049
|
|
|
NM_006361.6(HOXB13):c.*151_*152insC
|
rs1597932044
|
|
|
NM_006361.6(HOXB13):c.*152G>C
|
rs1597932040
|
|
|
NM_006361.6(HOXB13):c.*153G>A
|
rs1597932026
|
|
|
NM_006361.6(HOXB13):c.*153del
|
rs1597932037
|
|
|
NM_006361.6(HOXB13):c.*155dup
|
rs1597932022
|
|
|
NM_006361.6(HOXB13):c.*15T>C
|
rs776879752
|
|
|
NM_006361.6(HOXB13):c.*160dup
|
rs1597932009
|
|
|
NM_006361.6(HOXB13):c.*19dup
|
rs1597932317
|
|
|
NM_006361.6(HOXB13):c.*1G>A
|
rs1285912914
|
|
|
NM_006361.6(HOXB13):c.*1G>T
|
rs1285912914
|
|
|
NM_006361.6(HOXB13):c.*22G>T
|
rs1597932306
|
|
|
NM_006361.6(HOXB13):c.*22dup
|
rs1597932309
|
|
|
NM_006361.6(HOXB13):c.*25dup
|
rs1597932299
|
|
|
NM_006361.6(HOXB13):c.*27G>A
|
rs1597932295
|
|
|
NM_006361.6(HOXB13):c.*27G>C
|
rs1597932295
|
|
|
NM_006361.6(HOXB13):c.*28dup
|
rs1597932286
|
|
|
NM_006361.6(HOXB13):c.*29G>C
|
rs1333372673
|
|
|
NM_006361.6(HOXB13):c.*33G>A
|
rs1597932273
|
|
|
NM_006361.6(HOXB13):c.*35_*36insAAGG
|
rs1597932271
|
|
|
NM_006361.6(HOXB13):c.*45T>C
|
rs1597932254
|
|
|
NM_006361.6(HOXB13):c.*45T>G
|
rs1597932254
|
|
|
NM_006361.6(HOXB13):c.*78G>C
|
rs1597932221
|
|
|
NM_006361.6(HOXB13):c.*80G>C
|
rs1597932216
|
|
|
NM_006361.6(HOXB13):c.*86G>A
|
rs1597932213
|
|
|
NM_006361.6(HOXB13):c.*88del
|
rs1597932209
|
|
|
NM_006361.6(HOXB13):c.*90C>G
|
rs1597932206
|
|
|
NM_006361.6(HOXB13):c.*90C>T
|
rs1597932206
|
|
|
NM_006361.6(HOXB13):c.*93del
|
rs1597932197
|
|
|
NM_006361.6(HOXB13):c.*95G>T
|
rs1597932192
|
|
|
NM_006361.6(HOXB13):c.-11C>G
|
rs1362939023
|
|
|
NM_006361.6(HOXB13):c.-14C>A
|
rs1356729486
|
|
|
NM_006361.6(HOXB13):c.-14del
|
rs1597935500
|
|
|
NM_006361.6(HOXB13):c.-16_-15insA
|
rs1597935505
|
|
|
NM_006361.6(HOXB13):c.-19T>G
|
rs1597935507
|
|
|
NM_006361.6(HOXB13):c.-21_-20insT
|
rs1597935513
|
|
|
NM_006361.6(HOXB13):c.-21del
|
rs1597935516
|
|
|
NM_006361.6(HOXB13):c.-22T>A
|
rs1597935518
|
|
|
NM_006361.6(HOXB13):c.-23C>G
|
rs1597935521
|
|
|
NM_006361.6(HOXB13):c.-23del
|
rs1597935524
|
|
|
NM_006361.6(HOXB13):c.-24C>G
|
rs1597935528
|
|
|
NM_006361.6(HOXB13):c.-26C>G
|
rs1597935535
|
|
|
NM_006361.6(HOXB13):c.-28del
|
rs1597935537
|
|
|
NM_006361.6(HOXB13):c.-2C>G
|
rs1597935461
|
|
|
NM_006361.6(HOXB13):c.-2C>T
|
rs1597935461
|
|
|
NM_006361.6(HOXB13):c.-30C>G
|
rs1298255334
|
|
|
NM_006361.6(HOXB13):c.-34C>A
|
rs1597935558
|
|
|
NM_006361.6(HOXB13):c.-34del
|
rs1597935562
|
|
|
NM_006361.6(HOXB13):c.-36C>A
|
rs1165325120
|
|
|
NM_006361.6(HOXB13):c.-38T>C
|
rs1597935570
|
|
|
NM_006361.6(HOXB13):c.-38del
|
rs1597935576
|
|
|
NM_006361.6(HOXB13):c.-41G>C
|
rs61748976
|
|
|
NM_006361.6(HOXB13):c.-41dup
|
rs1597935588
|
|
|
NM_006361.6(HOXB13):c.-43T>A
|
rs1597935596
|
|
|
NM_006361.6(HOXB13):c.-44C>A
|
rs1597935598
|
|
|
NM_006361.6(HOXB13):c.-44C>G
|
rs1597935598
|
|
|
NM_006361.6(HOXB13):c.-44C>T
|
rs1597935598
|
|
|
NM_006361.6(HOXB13):c.-44del
|
rs1597935602
|
|
|
NM_006361.6(HOXB13):c.-48C>A
|
rs1440227956
|
|
|
NM_006361.6(HOXB13):c.-48C>G
|
rs1440227956
|
|
|
NM_006361.6(HOXB13):c.-4del
|
rs1597935464
|
|
|
NM_006361.6(HOXB13):c.-50T>C
|
rs1597935621
|
|
|
NM_006361.6(HOXB13):c.-50dup
|
rs1597935622
|
|
|
NM_006361.6(HOXB13):c.-51G>A
|
rs755645189
|
|
|
NM_006361.6(HOXB13):c.-51del
|
rs1597935628
|
|
|
NM_006361.6(HOXB13):c.-54T>A
|
rs1597935640
|
|
|
NM_006361.6(HOXB13):c.-54dup
|
rs1597935641
|
|
|
NM_006361.6(HOXB13):c.-55C>G
|
rs1597935647
|
|
|
NM_006361.6(HOXB13):c.-55_-54insA
|
rs1597935644
|
|
|
NM_006361.6(HOXB13):c.-56dup
|
rs1597935650
|
|
|
NM_006361.6(HOXB13):c.-57del
|
rs1597935652
|
|
|
NM_006361.6(HOXB13):c.-58G>T
|
rs1597935656
|
|
|
NM_006361.6(HOXB13):c.-5G>A
|
rs1567701739
|
|
|
NM_006361.6(HOXB13):c.-60del
|
rs1597935666
|
|
|
NM_006361.6(HOXB13):c.-61A>T
|
rs1597935668
|
|
|
NM_006361.6(HOXB13):c.-64G>A
|
rs1597935678
|
|
|
NM_006361.6(HOXB13):c.-65G>C
|
rs1597935680
|
|
|
NM_006361.6(HOXB13):c.-66G>A
|
rs1597935686
|
|
|
NM_006361.6(HOXB13):c.-67G>C
|
rs1597935689
|
|
|
NM_006361.6(HOXB13):c.-68dup
|
rs1597935697
|
|
|
NM_006361.6(HOXB13):c.-69G>A
|
rs1597935698
|
|
|
NM_006361.6(HOXB13):c.-69G>T
|
rs1597935698
|
|
|
NM_006361.6(HOXB13):c.-69del
|
rs1597935702
|
|
|
NM_006361.6(HOXB13):c.-6G>C
|
rs375857762
|
|
|
NM_006361.6(HOXB13):c.-6_-5insT
|
rs1597935469
|
|
|
NM_006361.6(HOXB13):c.-71G>T
|
rs1597935705
|
|
|
NM_006361.6(HOXB13):c.-72T>G
|
rs1597935707
|
|
|
NM_006361.6(HOXB13):c.-72del
|
rs1597935712
|
|
|
NM_006361.6(HOXB13):c.-76G>C
|
rs200066609
|
|
|
NM_006361.6(HOXB13):c.-76_-75insA
|
rs1597935718
|
|
|
NM_006361.6(HOXB13):c.-7C>A
|
rs762994956
|
|
|
NM_006361.6(HOXB13):c.-81C>A
|
rs535584715
|
|
|
NM_006361.6(HOXB13):c.-83T>A
|
rs1597935727
|
|
|
NM_006361.6(HOXB13):c.-84A>T
|
rs1597935730
|
|
|
NM_006361.6(HOXB13):c.-8_-7insG
|
rs1597935482
|
|
|
NM_006361.6(HOXB13):c.-8dup
|
rs1597935484
|
|
|
NM_006361.6(HOXB13):c.-90dup
|
rs1597935740
|
|
|
NM_006361.6(HOXB13):c.-96A>C
|
rs1597935749
|
|
|
NM_006361.6(HOXB13):c.-99T>C
|
rs924383562
|
|
|
NM_006361.6(HOXB13):c.-9del
|
rs1597935488
|
|
|
NM_006361.6(HOXB13):c.100A>T (p.Thr34Ser)
|
rs1418039435
|
|
|
NM_006361.6(HOXB13):c.101C>A (p.Thr34Asn)
|
rs1597935112
|
|
|
NM_006361.6(HOXB13):c.101C>T (p.Thr34Ile)
|
rs1597935112
|
|
|
NM_006361.6(HOXB13):c.102C>A (p.Thr34=)
|
rs1597935105
|
|
|
NM_006361.6(HOXB13):c.102del (p.Ser35fs)
|
rs1597935108
|
|
|
NM_006361.6(HOXB13):c.105C>A (p.Ser35Arg)
|
rs1175466694
|
|
|
NM_006361.6(HOXB13):c.106del (p.His36fs)
|
rs1597935100
|
|
|
NM_006361.6(HOXB13):c.107A>C (p.His36Pro)
|
rs1597935095
|
|
|
NM_006361.6(HOXB13):c.109C>A (p.Pro37Thr)
|
rs1597935093
|
|
|
NM_006361.6(HOXB13):c.109_110insA (p.Pro37fs)
|
rs1597935091
|
|
|
NM_006361.6(HOXB13):c.10_11insC (p.Gly4fs)
|
rs1597935406
|
|
|
NM_006361.6(HOXB13):c.110dup (p.Ala38fs)
|
rs1597935087
|
|
|
NM_006361.6(HOXB13):c.111A>T (p.Pro37=)
|
rs1597935083
|
|
|
NM_006361.6(HOXB13):c.113C>T (p.Ala38Val)
|
rs587780160
|
|
|
NM_006361.6(HOXB13):c.116C>G (p.Ala39Gly)
|
rs773491778
|
|
|
NM_006361.6(HOXB13):c.116C>T (p.Ala39Val)
|
rs773491778
|
|
|
NM_006361.6(HOXB13):c.117G>C (p.Ala39=)
|
rs1597935062
|
|
|
NM_006361.6(HOXB13):c.117dup (p.Pro40fs)
|
rs1597935065
|
|
|
NM_006361.6(HOXB13):c.119C>G (p.Pro40Arg)
|
rs1597935060
|
|
|
NM_006361.6(HOXB13):c.119C>T (p.Pro40Leu)
|
rs1597935060
|
|
|
NM_006361.6(HOXB13):c.11dup (p.Asn5fs)
|
rs1597935405
|
|
|
NM_006361.6(HOXB13):c.122C>A (p.Thr41Lys)
|
rs199799743
|
|
|
NM_006361.6(HOXB13):c.124C>A (p.Leu42Met)
|
rs1597935049
|
|
|
NM_006361.6(HOXB13):c.124C>G (p.Leu42Val)
|
rs1597935049
|
|
|
NM_006361.6(HOXB13):c.124delinsGA (p.Leu42fs)
|
rs1597935052
|
|
|
NM_006361.6(HOXB13):c.125del (p.Leu42fs)
|
rs1597935048
|
|
|
NM_006361.6(HOXB13):c.131C>G (p.Pro44Arg)
|
rs866159706
|
|
|
NM_006361.6(HOXB13):c.131dup (p.Ala45fs)
|
rs1597935046
|
|
|
NM_006361.6(HOXB13):c.132T>C (p.Pro44=)
|
rs1597935042
|
|
|
NM_006361.6(HOXB13):c.133G>C (p.Ala45Pro)
|
rs1185233318
|
|
|
NM_006361.6(HOXB13):c.134C>G (p.Ala45Gly)
|
rs1597935038
|
|
|
NM_006361.6(HOXB13):c.136G>T (p.Val46Phe)
|
rs1597935034
|
|
|
NM_006361.6(HOXB13):c.138C>T (p.Val46=)
|
rs1597935033
|
|
|
NM_006361.6(HOXB13):c.13A>G (p.Asn5Asp)
|
rs1404578364
|
|
|
NM_006361.6(HOXB13):c.141C>A (p.Asn47Lys)
|
rs774872614
|
|
|
NM_006361.6(HOXB13):c.141delinsAA (p.Asn47fs)
|
rs1597935028
|
|
|
NM_006361.6(HOXB13):c.145G>T (p.Ala49Ser)
|
rs11551892
|
|
|
NM_006361.6(HOXB13):c.146C>A (p.Ala49Asp)
|
rs1597935024
|
|
|
NM_006361.6(HOXB13):c.146C>G (p.Ala49Gly)
|
rs1597935024
|
|
|
NM_006361.6(HOXB13):c.146C>T (p.Ala49Val)
|
rs1597935024
|
|
|
NM_006361.6(HOXB13):c.148C>G (p.Pro50Ala)
|
rs1597935020
|
|
|
NM_006361.6(HOXB13):c.14A>T (p.Asn5Ile)
|
rs1597935385
|
|
|
NM_006361.6(HOXB13):c.14_15insG (p.Asn5fs)
|
rs1597935379
|
|
|
NM_006361.6(HOXB13):c.150dup (p.Asp52fs)
|
rs1597935013
|
|
|
NM_006361.6(HOXB13):c.151T>C (p.Leu51=)
|
rs1597935011
|
|
|
NM_006361.6(HOXB13):c.152T>G (p.Leu51Trp)
|
rs1597935007
|
|
|
NM_006361.6(HOXB13):c.152del (p.Leu51fs)
|
rs1597935010
|
|
|
NM_006361.6(HOXB13):c.154G>T (p.Asp52Tyr)
|
rs1597935002
|
|
|
NM_006361.6(HOXB13):c.155A>G (p.Asp52Gly)
|
rs1597934995
|
|
|
NM_006361.6(HOXB13):c.155A>T (p.Asp52Val)
|
rs1597934995
|
|
|
NM_006361.6(HOXB13):c.157C>T (p.Leu53=)
|
rs1597934989
|
|
|
NM_006361.6(HOXB13):c.157del (p.Leu53fs)
|
rs1597934991
|
|
|
NM_006361.6(HOXB13):c.158dup (p.Pro54fs)
|
rs1597934987
|
|
|
NM_006361.6(HOXB13):c.159G>C (p.Leu53=)
|
rs1265294177
|
|
|
NM_006361.6(HOXB13):c.159del (p.Pro54fs)
|
rs1597934983
|
|
|
NM_006361.6(HOXB13):c.15T>A (p.Asn5Lys)
|
rs1597935376
|
|
|
NM_006361.6(HOXB13):c.15T>G (p.Asn5Lys)
|
rs1597935376
|
|
|
NM_006361.6(HOXB13):c.160C>A (p.Pro54Thr)
|
rs769074510
|
|
|
NM_006361.6(HOXB13):c.161del (p.Pro54fs)
|
rs1597934972
|
|
|
NM_006361.6(HOXB13):c.162A>C (p.Pro54=)
|
rs1597934963
|
|
|
NM_006361.6(HOXB13):c.162A>G (p.Pro54=)
|
rs1597934963
|
|
|
NM_006361.6(HOXB13):c.162del (p.Gly55fs)
|
rs1597934966
|
|
|
NM_006361.6(HOXB13):c.163G>C (p.Gly55Arg)
|
rs1484636342
|
|
|
NM_006361.6(HOXB13):c.165C>G (p.Gly55=)
|
rs1597934949
|
|
|
NM_006361.6(HOXB13):c.165C>T (p.Gly55=)
|
rs1597934949
|
|
|
NM_006361.6(HOXB13):c.166T>C (p.Ser56Pro)
|
rs1597934943
|
|
|
NM_006361.6(HOXB13):c.166del (p.Ser56fs)
|
rs1597934944
|
|
|
NM_006361.6(HOXB13):c.167C>G (p.Ser56Trp)
|
rs1597934937
|
|
|
NM_006361.6(HOXB13):c.167dup (p.Ala57fs)
|
rs1597934938
|
|
|
NM_006361.6(HOXB13):c.168G>T (p.Ser56=)
|
rs1325861190
|
|
|
NM_006361.6(HOXB13):c.169G>C (p.Ala57Pro)
|
rs745306184
|
|
|
NM_006361.6(HOXB13):c.169del (p.Ala57fs)
|
rs1597934932
|
|
|
NM_006361.6(HOXB13):c.170C>G (p.Ala57Gly)
|
rs1597934926
|
|
|
NM_006361.6(HOXB13):c.170C>T (p.Ala57Val)
|
rs1597934926
|
|
|
NM_006361.6(HOXB13):c.170_171insT (p.Glu58fs)
|
rs1597934922
|
|
|
NM_006361.6(HOXB13):c.171G>T (p.Ala57=)
|
rs780859632
|
|
|
NM_006361.6(HOXB13):c.172dup (p.Glu58fs)
|
rs1597934916
|
|
|
NM_006361.6(HOXB13):c.173A>G (p.Glu58Gly)
|
rs1597934915
|
|
|
NM_006361.6(HOXB13):c.174G>A (p.Glu58=)
|
rs1597934910
|
|
|
NM_006361.6(HOXB13):c.174dup (p.Pro59fs)
|
rs1597934913
|
|
|
NM_006361.6(HOXB13):c.175C>G (p.Pro59Ala)
|
rs1597934900
|
|
|
NM_006361.6(HOXB13):c.175_176insG (p.Pro59fs)
|
rs1597934896
|
|
|
NM_006361.6(HOXB13):c.175delinsGG (p.Pro59fs)
|
rs1597934906
|
|
|
NM_006361.6(HOXB13):c.176C>G (p.Pro59Arg)
|
rs770620686
|
|
|
NM_006361.6(HOXB13):c.176del (p.Pro59fs)
|
rs1597934894
|
|
|
NM_006361.6(HOXB13):c.177dup (p.Pro60fs)
|
rs1597934885
|
|
|
NM_006361.6(HOXB13):c.178C>T (p.Pro60Ser)
|
rs1597934879
|
|
|
NM_006361.6(HOXB13):c.179del (p.Pro60fs)
|
rs1597934877
|
|
|
NM_006361.6(HOXB13):c.179dup (p.Gln62fs)
|
rs1597934877
|
|
|
NM_006361.6(HOXB13):c.17A>G (p.Tyr6Cys)
|
rs771173385
|
|
|
NM_006361.6(HOXB13):c.180A>C (p.Pro60=)
|
rs1597934873
|
|
|
NM_006361.6(HOXB13):c.184C>A (p.Gln62Lys)
|
rs1597934862
|
|
|
NM_006361.6(HOXB13):c.185A>T (p.Gln62Leu)
|
rs1597934856
|
|
|
NM_006361.6(HOXB13):c.186A>T (p.Gln62His)
|
rs1597934852
|
|
|
NM_006361.6(HOXB13):c.186dup (p.Cys63fs)
|
rs1597934854
|
|
|
NM_006361.6(HOXB13):c.187T>A (p.Cys63Ser)
|
rs758166293
|
|
|
NM_006361.6(HOXB13):c.188G>C (p.Cys63Ser)
|
rs199813155
|
|
|
NM_006361.6(HOXB13):c.188G>T (p.Cys63Phe)
|
rs199813155
|
|
|
NM_006361.6(HOXB13):c.189C>A (p.Cys63Ter)
|
rs1597934839
|
|
|
NM_006361.6(HOXB13):c.18T>G (p.Tyr6Ter)
|
rs1337454597
|
|
|
NM_006361.6(HOXB13):c.191A>C (p.His64Pro)
|
rs1194735492
|
|
|
NM_006361.6(HOXB13):c.194C>A (p.Pro65Gln)
|
rs1597934831
|
|
|
NM_006361.6(HOXB13):c.194dup (p.Cys66fs)
|
rs1597934833
|
|
|
NM_006361.6(HOXB13):c.195A>C (p.Pro65=)
|
rs1597934828
|
|
|
NM_006361.6(HOXB13):c.195_196insC (p.Cys66fs)
|
rs1597934827
|
|
|
NM_006361.6(HOXB13):c.197del (p.Cys66fs)
|
rs1597934825
|
|
|
NM_006361.6(HOXB13):c.19G>C (p.Ala7Pro)
|
rs1597935367
|
|
|
NM_006361.6(HOXB13):c.19G>T (p.Ala7Ser)
|
rs1597935367
|
|
|
NM_006361.6(HOXB13):c.1del (p.Met1fs)
|
rs1597935455
|
|
|
NM_006361.6(HOXB13):c.200del (p.Pro67fs)
|
rs1597934819
|
|
|
NM_006361.6(HOXB13):c.201T>C (p.Pro67=)
|
rs1597934812
|
|
|
NM_006361.6(HOXB13):c.201del (p.Val69fs)
|
rs1597934816
|
|
|
NM_006361.6(HOXB13):c.205dup (p.Val69fs)
|
rs1597934803
|
|
|
NM_006361.6(HOXB13):c.206T>G (p.Val69Gly)
|
rs1597934796
|
|
|
NM_006361.6(HOXB13):c.207G>C (p.Val69=)
|
rs1597934795
|
|
|
NM_006361.6(HOXB13):c.207G>T (p.Val69=)
|
rs1597934795
|
|
|
NM_006361.6(HOXB13):c.20C>G (p.Ala7Gly)
|
rs1597935362
|
|
|
NM_006361.6(HOXB13):c.210C>A (p.Pro70=)
|
rs768670673
|
|
|
NM_006361.6(HOXB13):c.212A>C (p.Gln71Pro)
|
rs1597934778
|
|
|
NM_006361.6(HOXB13):c.212A>G (p.Gln71Arg)
|
rs1597934778
|
|
|
NM_006361.6(HOXB13):c.215G>A (p.Gly72Glu)
|
rs774579054
|
|
|
NM_006361.6(HOXB13):c.216G>T (p.Gly72=)
|
rs769145488
|
|
|
NM_006361.6(HOXB13):c.216dup (p.Thr73fs)
|
rs1597934769
|
|
|
NM_006361.6(HOXB13):c.217A>G (p.Thr73Ala)
|
rs1597934763
|
|
|
NM_006361.6(HOXB13):c.217_218insGTTCCCAGGCT (p.Thr73fs)
|
rs1597934760
|
|
|
NM_006361.6(HOXB13):c.218C>A (p.Thr73Lys)
|
rs763353615
|
|
|
NM_006361.6(HOXB13):c.218C>G (p.Thr73Arg)
|
rs763353615
|
|
|
NM_006361.6(HOXB13):c.219G>T (p.Thr73=)
|
rs776203446
|
|
|
NM_006361.6(HOXB13):c.219_230del (p.Ser74_Pro77del)
|
rs1597934723
|
|
|
NM_006361.6(HOXB13):c.21C>T (p.Ala7=)
|
rs1597935358
|
|
|
NM_006361.6(HOXB13):c.220T>G (p.Ser74Ala)
|
rs1597934748
|
|
|
NM_006361.6(HOXB13):c.220del (p.Ser74fs)
|
rs1597934752
|
|
|
NM_006361.6(HOXB13):c.220dup (p.Ser74fs)
|
rs1597934751
|
|
|
NM_006361.6(HOXB13):c.221C>T (p.Ser74Phe)
|
rs1597934744
|
|
|
NM_006361.6(HOXB13):c.224dup (p.Ala76fs)
|
rs1597934741
|
|
|
NM_006361.6(HOXB13):c.226G>C (p.Ala76Pro)
|
rs1390422355
|
|
|
NM_006361.6(HOXB13):c.227C>G (p.Ala76Gly)
|
rs1597934737
|
|
|
NM_006361.6(HOXB13):c.227C>T (p.Ala76Val)
|
rs1597934737
|
|
|
NM_006361.6(HOXB13):c.228dup (p.Pro77fs)
|
rs1597934733
|
|
|
NM_006361.6(HOXB13):c.229C>T (p.Pro77Ser)
|
rs1597934728
|
|
|
NM_006361.6(HOXB13):c.230_231del (p.Pro77fs)
|
rs1597934719
|
|
|
NM_006361.6(HOXB13):c.231dup (p.Val78fs)
|
rs1597934719
|
|
|
NM_006361.6(HOXB13):c.232G>C (p.Val78Leu)
|
rs746542615
|
|
|
NM_006361.6(HOXB13):c.234G>T (p.Val78=)
|
rs924383022
|
|
|
NM_006361.6(HOXB13):c.234del (p.Pro79fs)
|
rs1597934711
|
|
|
NM_006361.6(HOXB13):c.236del (p.Pro79fs)
|
rs1597934706
|
|
|
NM_006361.6(HOXB13):c.236dup (p.Tyr80fs)
|
rs1597934706
|
|
|
NM_006361.6(HOXB13):c.238T>A (p.Tyr80Asn)
|
rs1597934698
|
|
|
NM_006361.6(HOXB13):c.239A>T (p.Tyr80Phe)
|
rs772962401
|
|
|
NM_006361.6(HOXB13):c.241G>T (p.Gly81Cys)
|
rs1597934690
|
|
|
NM_006361.6(HOXB13):c.242G>T (p.Gly81Val)
|
rs1597934688
|
|
|
NM_006361.6(HOXB13):c.244T>A (p.Tyr82Asn)
|
rs1597934684
|
|
|
NM_006361.6(HOXB13):c.244T>G (p.Tyr82Asp)
|
rs1597934684
|
|
|
NM_006361.6(HOXB13):c.248T>C (p.Phe83Ser)
|
rs1597934674
|
|
|
NM_006361.6(HOXB13):c.249del (p.Phe83fs)
|
rs1597934671
|
|
|
NM_006361.6(HOXB13):c.24del (p.Leu9fs)
|
rs1597935352
|
|
|
NM_006361.6(HOXB13):c.251del (p.Gly84fs)
|
rs1597934667
|
|
|
NM_006361.6(HOXB13):c.255C>G (p.Gly85=)
|
rs1597934651
|
|
|
NM_006361.6(HOXB13):c.255del (p.Tyr87fs)
|
rs1597934654
|
|
|
NM_006361.6(HOXB13):c.258dup (p.Tyr87fs)
|
rs1597934646
|
|
|
NM_006361.6(HOXB13):c.259T>A (p.Tyr87Asn)
|
rs1597934636
|
|
|
NM_006361.6(HOXB13):c.259T>G (p.Tyr87Asp)
|
rs1597934636
|
|
|
NM_006361.6(HOXB13):c.259delinsAA (p.Tyr87fs)
|
rs1597934637
|
|
|
NM_006361.6(HOXB13):c.260A>T (p.Tyr87Phe)
|
rs1597934631
|
|
|
NM_006361.6(HOXB13):c.261C>A (p.Tyr87Ter)
|
rs1197613952
|
|
|
NM_006361.6(HOXB13):c.261del (p.Tyr88fs)
|
rs1597934628
|
|
|
NM_006361.6(HOXB13):c.262T>A (p.Tyr88Asn)
|
rs1597934622
|
|
|
NM_006361.6(HOXB13):c.264C>A (p.Tyr88Ter)
|
rs1597934612
|
|
|
NM_006361.6(HOXB13):c.264del (p.Ser89fs)
|
rs1597934617
|
|
|
NM_006361.6(HOXB13):c.267C>T (p.Ser89=)
|
rs1597934607
|
|
|
NM_006361.6(HOXB13):c.26T>C (p.Leu9Ser)
|
rs1597935342
|
|
|
NM_006361.6(HOXB13):c.26T>G (p.Leu9Trp)
|
rs1597935342
|
|
|
NM_006361.6(HOXB13):c.271C>G (p.Arg91Gly)
|
rs749195398
|
|
|
NM_006361.6(HOXB13):c.271C>T (p.Arg91Ter)
|
rs749195398
|
|
|
NM_006361.6(HOXB13):c.27G>C (p.Leu9Phe)
|
rs1597935337
|
|
|
NM_006361.6(HOXB13):c.280C>G (p.Arg94Gly)
|
rs1597934593
|
|
|
NM_006361.6(HOXB13):c.280del (p.Arg94fs)
|
rs1597934594
|
|
|
NM_006361.6(HOXB13):c.280dup (p.Arg94fs)
|
rs1597934594
|
|
|
NM_006361.6(HOXB13):c.283dup (p.Ser95fs)
|
rs1597934583
|
|
|
NM_006361.6(HOXB13):c.285C>G (p.Ser95Arg)
|
rs750529308
|
|
|
NM_006361.6(HOXB13):c.287C>G (p.Ser96Trp)
|
rs1237713613
|
|
|
NM_006361.6(HOXB13):c.289C>G (p.Leu97Val)
|
rs757433384
|
|
|
NM_006361.6(HOXB13):c.289C>T (p.Leu97=)
|
rs757433384
|
|
|
NM_006361.6(HOXB13):c.289del (p.Ser96_Leu97insTer)
|
rs1597934574
|
|
|
NM_006361.6(HOXB13):c.28G>C (p.Asp10His)
|
rs1597935328
|
|
|
NM_006361.6(HOXB13):c.28G>T (p.Asp10Tyr)
|
rs1597935328
|
|
|
NM_006361.6(HOXB13):c.28dup (p.Asp10fs)
|
rs1597935334
|
|
|
NM_006361.6(HOXB13):c.291G>T (p.Leu97=)
|
rs1597934567
|
|
|
NM_006361.6(HOXB13):c.294dup (p.Pro99fs)
|
rs1597934565
|
|
|
NM_006361.6(HOXB13):c.297C>T (p.Pro99=)
|
rs1597934560
|
|
|
NM_006361.6(HOXB13):c.301G>A (p.Ala101Thr)
|
rs1597934558
|
|
|
NM_006361.6(HOXB13):c.307del (p.Ala103fs)
|
rs1597934544
|
|
|
NM_006361.6(HOXB13):c.30T>G (p.Asp10Glu)
|
rs1597935325
|
|
|
NM_006361.6(HOXB13):c.316del (p.Leu106fs)
|
rs1597934520
|
|
|
NM_006361.6(HOXB13):c.326A>C (p.Tyr109Ser)
|
rs1597934502
|
|
|
NM_006361.6(HOXB13):c.327C>A (p.Tyr109Ter)
|
rs749101324
|
|
|
NM_006361.6(HOXB13):c.331G>T (p.Ala111Ser)
|
rs745889927
|
|
|
NM_006361.6(HOXB13):c.334G>A (p.Glu112Lys)
|
rs1597934467
|
|
|
NM_006361.6(HOXB13):c.336G>A (p.Glu112=)
|
rs1597934464
|
|
|
NM_006361.6(HOXB13):c.337dup (p.Thr113fs)
|
rs1597934462
|
|
|
NM_006361.6(HOXB13):c.338C>A (p.Thr113Asn)
|
rs1597934458
|
|
|
NM_006361.6(HOXB13):c.344_345insA (p.Ala116fs)
|
rs1597934438
|
|
|
NM_006361.6(HOXB13):c.344del (p.Thr115fs)
|
rs1597934448
|
|
|
NM_006361.6(HOXB13):c.347C>G (p.Ala116Gly)
|
rs1597934421
|
|
|
NM_006361.6(HOXB13):c.355G>A (p.Glu119Lys)
|
rs1597934381
|
|
|
NM_006361.6(HOXB13):c.358delinsAA (p.Tyr120fs)
|
rs1597934365
|
|
|
NM_006361.6(HOXB13):c.35C>A (p.Ala12Asp)
|
rs1597935311
|
|
|
NM_006361.6(HOXB13):c.35C>G (p.Ala12Gly)
|
rs1597935311
|
|
|
NM_006361.6(HOXB13):c.35_36insT (p.Lys13fs)
|
rs1597935307
|
|
|
NM_006361.6(HOXB13):c.361C>A (p.Pro121Thr)
|
rs766909225
|
|
|
NM_006361.6(HOXB13):c.363C>A (p.Pro121=)
|
rs1597934347
|
|
|
NM_006361.6(HOXB13):c.365G>A (p.Ser122Asn)
|
rs1010890339
|
|
|
NM_006361.6(HOXB13):c.366C>T (p.Ser122=)
|
rs8556
|
|
|
NM_006361.6(HOXB13):c.367del (p.Arg123fs)
|
rs1597934329
|
|
|
NM_006361.6(HOXB13):c.368G>C (p.Arg123Pro)
|
rs201428095
|
|
|
NM_006361.6(HOXB13):c.36C>A (p.Ala12=)
|
rs1597935303
|
|
|
NM_006361.6(HOXB13):c.372C>G (p.Pro124=)
|
rs1597934319
|
|
|
NM_006361.6(HOXB13):c.372dup (p.Thr125fs)
|
rs1597934321
|
|
|
NM_006361.6(HOXB13):c.378G>C (p.Glu126Asp)
|
rs1597934313
|
|
|
NM_006361.6(HOXB13):c.37A>T (p.Lys13Ter)
|
rs1597935301
|
|
|
NM_006361.6(HOXB13):c.381dup (p.Ala128fs)
|
rs1597934310
|
|
|
NM_006361.6(HOXB13):c.382del (p.Ala128fs)
|
rs1597934308
|
|
|
NM_006361.6(HOXB13):c.384C>G (p.Ala128=)
|
rs1445231138
|
|
|
NM_006361.6(HOXB13):c.389A>G (p.Tyr130Cys)
|
rs1597934297
|
|
|
NM_006361.6(HOXB13):c.38A>T (p.Lys13Met)
|
rs1597935299
|
|
|
NM_006361.6(HOXB13):c.391C>G (p.Pro131Ala)
|
rs1597934292
|
|
|
NM_006361.6(HOXB13):c.392dup (p.Tyr133fs)
|
rs1597934290
|
|
|
NM_006361.6(HOXB13):c.39G>C (p.Lys13Asn)
|
rs1555558715
|
|
|
NM_006361.6(HOXB13):c.39G>T (p.Lys13Asn)
|
rs1555558715
|
|
|
NM_006361.6(HOXB13):c.405A>C (p.Gly135=)
|
rs1597934273
|
|
|
NM_006361.6(HOXB13):c.406dup (p.Thr136fs)
|
rs1597934271
|
|
|
NM_006361.6(HOXB13):c.40G>T (p.Asp14Tyr)
|
rs1597935289
|
|
|
NM_006361.6(HOXB13):c.40del (p.Asp14fs)
|
rs1597935290
|
|
|
NM_006361.6(HOXB13):c.416C>A (p.Pro139His)
|
rs1597934253
|
|
|
NM_006361.6(HOXB13):c.416dup (p.Met140fs)
|
rs1597934256
|
|
|
NM_006361.6(HOXB13):c.421dup (p.Ala141fs)
|
rs1597934242
|
|
|
NM_006361.6(HOXB13):c.422C>G (p.Ala141Gly)
|
rs556045007
|
|
|
NM_006361.6(HOXB13):c.424A>C (p.Ser142Arg)
|
rs1597934239
|
|
|
NM_006361.6(HOXB13):c.427T>A (p.Tyr143Asn)
|
rs1597934233
|
|
|
NM_006361.6(HOXB13):c.430del (p.Leu144fs)
|
rs1597934229
|
|
|
NM_006361.6(HOXB13):c.433dup (p.Asp145fs)
|
rs1597934223
|
|
|
NM_006361.6(HOXB13):c.434A>G (p.Asp145Gly)
|
rs1597934220
|
|
|
NM_006361.6(HOXB13):c.436dup (p.Val146fs)
|
rs1597934215
|
|
|
NM_006361.6(HOXB13):c.440C>T (p.Ser147Phe)
|
rs1597934208
|
|
|
NM_006361.6(HOXB13):c.440del (p.Ser147fs)
|
rs1597934211
|
|
|
NM_006361.6(HOXB13):c.442del (p.Val148fs)
|
rs1597934205
|
|
|
NM_006361.6(HOXB13):c.443del (p.Val148fs)
|
rs1597934202
|
|
|
NM_006361.6(HOXB13):c.446T>A (p.Val149Glu)
|
rs1597934193
|
|
|
NM_006361.6(HOXB13):c.450G>C (p.Gln150His)
|
rs1597934182
|
|
|
NM_006361.6(HOXB13):c.450dup (p.Thr151fs)
|
rs1597934184
|
|
|
NM_006361.6(HOXB13):c.452C>T (p.Thr151Ile)
|
rs1555558604
|
|
|
NM_006361.6(HOXB13):c.455del (p.Leu152fs)
|
rs1597934171
|
|
|
NM_006361.6(HOXB13):c.456G>T (p.Leu152=)
|
rs755437330
|
|
|
NM_006361.6(HOXB13):c.459T>G (p.Gly153=)
|
rs1597934161
|
|
|
NM_006361.6(HOXB13):c.45C>G (p.Ile15Met)
|
rs1597935282
|
|
|
NM_006361.6(HOXB13):c.45C>T (p.Ile15=)
|
rs1597935282
|
|
|
NM_006361.6(HOXB13):c.462T>A (p.Ala154=)
|
rs1597934156
|
|
|
NM_006361.6(HOXB13):c.464C>T (p.Pro155Leu)
|
rs1597934146
|
|
|
NM_006361.6(HOXB13):c.464dup (p.Gly156fs)
|
rs1597934154
|
|
|
NM_006361.6(HOXB13):c.465del (p.Gly156fs)
|
rs1597934142
|
|
|
NM_006361.6(HOXB13):c.466G>C (p.Gly156Arg)
|
rs1597934133
|
|
|
NM_006361.6(HOXB13):c.467dup (p.Glu157fs)
|
rs1597934126
|
|
|
NM_006361.6(HOXB13):c.468A>C (p.Gly156=)
|
rs902238751
|
|
|
NM_006361.6(HOXB13):c.471A>C (p.Glu157Asp)
|
rs1597934111
|
|
|
NM_006361.6(HOXB13):c.472C>T (p.Pro158Ser)
|
rs1597934105
|
|
|
NM_006361.6(HOXB13):c.474dup (p.Arg159fs)
|
rs1597934100
|
|
|
NM_006361.6(HOXB13):c.475C>G (p.Arg159Gly)
|
rs1460756423
|
|
|
NM_006361.6(HOXB13):c.476G>T (p.Arg159Leu)
|
rs1241042961
|
|
|
NM_006361.6(HOXB13):c.476del (p.Arg159fs)
|
rs1597934090
|
|
|
NM_006361.6(HOXB13):c.479A>C (p.His160Pro)
|
rs1597934083
|
|
|
NM_006361.6(HOXB13):c.480T>A (p.His160Gln)
|
rs1597934077
|
|
|
NM_006361.6(HOXB13):c.482dup (p.Asp161fs)
|
rs1597934070
|
|
|
NM_006361.6(HOXB13):c.485C>A (p.Ser162Tyr)
|
rs751081605
|
|
|
NM_006361.6(HOXB13):c.487C>A (p.Leu163Met)
|
rs1597934044
|
|
|
NM_006361.6(HOXB13):c.487C>G (p.Leu163Val)
|
rs1597934044
|
|
|
NM_006361.6(HOXB13):c.489G>T (p.Leu163=)
|
rs199561305
|
|
|
NM_006361.6(HOXB13):c.48A>T (p.Glu16Asp)
|
rs1597935280
|
|
|
NM_006361.6(HOXB13):c.490T>G (p.Leu164Val)
|
rs555788633
|
|
|
NM_006361.6(HOXB13):c.493C>G (p.Pro165Ala)
|
rs1597934017
|
|
|
NM_006361.6(HOXB13):c.493C>T (p.Pro165Ser)
|
rs1597934017
|
|
|
NM_006361.6(HOXB13):c.494C>G (p.Pro165Arg)
|
rs1597934013
|
|
|
NM_006361.6(HOXB13):c.495T>G (p.Pro165=)
|
rs1597934010
|
|
|
NM_006361.6(HOXB13):c.496del (p.Val166fs)
|
rs1597934003
|
|
|
NM_006361.6(HOXB13):c.497T>A (p.Val166Glu)
|
rs1597934000
|
|
|
NM_006361.6(HOXB13):c.498G>C (p.Val166=)
|
rs775189167
|
|
|
NM_006361.6(HOXB13):c.499del (p.Asp167fs)
|
rs1597933997
|
|
|
NM_006361.6(HOXB13):c.49delinsAC (p.Gly17fs)
|
rs1597935279
|
|
|
NM_006361.6(HOXB13):c.4del (p.Glu2fs)
|
rs1597935447
|
|
|
NM_006361.6(HOXB13):c.502A>C (p.Ser168Arg)
|
rs1436475959
|
|
|
NM_006361.6(HOXB13):c.504T>G (p.Ser168Arg)
|
rs1597933977
|
|
|
NM_006361.6(HOXB13):c.505T>A (p.Tyr169Asn)
|
rs1597933974
|
|
|
NM_006361.6(HOXB13):c.506A>T (p.Tyr169Phe)
|
rs1597933968
|
|
|
NM_006361.6(HOXB13):c.508C>A (p.Gln170Lys)
|
rs1335165337
|
|
|
NM_006361.6(HOXB13):c.508del (p.Gln170fs)
|
rs1597933959
|
|
|
NM_006361.6(HOXB13):c.509_510insC (p.Gln170fs)
|
rs1597933947
|
|
|
NM_006361.6(HOXB13):c.514dup (p.Trp172fs)
|
rs1597933934
|
|
|
NM_006361.6(HOXB13):c.515G>C (p.Trp172Ser)
|
rs1597933929
|
|
|
NM_006361.6(HOXB13):c.515G>T (p.Trp172Leu)
|
rs1597933929
|
|
|
NM_006361.6(HOXB13):c.516G>C (p.Trp172Cys)
|
rs1597933923
|
|
|
NM_006361.6(HOXB13):c.516G>T (p.Trp172Cys)
|
rs1597933923
|
|
|
NM_006361.6(HOXB13):c.519T>C (p.Ala173=)
|
rs1597933919
|
|
|
NM_006361.6(HOXB13):c.521T>G (p.Leu174Arg)
|
rs1597933914
|
|
|
NM_006361.6(HOXB13):c.522_523insT (p.Ala175fs)
|
rs1597933910
|
|
|
NM_006361.6(HOXB13):c.526G>C (p.Gly176Arg)
|
rs747003841
|
|
|
NM_006361.6(HOXB13):c.528T>A (p.Gly176=)
|
rs1597933899
|
|
|
NM_006361.6(HOXB13):c.528T>G (p.Gly176=)
|
rs1597933899
|
|
|
NM_006361.6(HOXB13):c.529G>C (p.Gly177Arg)
|
rs1597933897
|
|
|
NM_006361.6(HOXB13):c.530_531insA (p.Trp178fs)
|
rs1597933890
|
|
|
NM_006361.6(HOXB13):c.531C>A (p.Gly177=)
|
rs1597933886
|
|
|
NM_006361.6(HOXB13):c.532del (p.Trp178fs)
|
rs1597933885
|
|
|
NM_006361.6(HOXB13):c.538dup (p.Ser180fs)
|
rs1597933880
|
|
|
NM_006361.6(HOXB13):c.539G>A (p.Ser180Asn)
|
rs1597933876
|
|
|
NM_006361.6(HOXB13):c.539G>T (p.Ser180Ile)
|
rs1597933876
|
|
|
NM_006361.6(HOXB13):c.53T>C (p.Leu18Ser)
|
rs1597935271
|
|
|
NM_006361.6(HOXB13):c.541C>T (p.Gln181Ter)
|
rs1597933874
|
|
|
NM_006361.6(HOXB13):c.542A>T (p.Gln181Leu)
|
rs570681642
|
|
|
NM_006361.6(HOXB13):c.543G>A (p.Gln181=)
|
rs1597933867
|
|
|
NM_006361.6(HOXB13):c.543G>T (p.Gln181His)
|
rs1597933867
|
|
|
NM_006361.6(HOXB13):c.544A>G (p.Met182Val)
|
rs1597933862
|
|
|
NM_006361.6(HOXB13):c.546G>T (p.Met182Ile)
|
rs748353425
|
|
|
NM_006361.6(HOXB13):c.547dup (p.Cys183fs)
|
rs1597933851
|
|
|
NM_006361.6(HOXB13):c.548G>C (p.Cys183Ser)
|
rs1597933846
|
|
|
NM_006361.6(HOXB13):c.549_550insG (p.Cys184fs)
|
rs1597933843
|
|
|
NM_006361.6(HOXB13):c.54del (p.Leu18fs)
|
rs1597935268
|
|
|
NM_006361.6(HOXB13):c.552C>A (p.Cys184Ter)
|
rs1597933837
|
|
|
NM_006361.6(HOXB13):c.553del (p.Gln185fs)
|
rs1597933831
|
|
|
NM_006361.6(HOXB13):c.554A>T (p.Gln185Leu)
|
rs1597933824
|
|
|
NM_006361.6(HOXB13):c.555G>A (p.Gln185=)
|
rs1597933822
|
|
|
NM_006361.6(HOXB13):c.556G>A (p.Gly186Arg)
|
rs1597933819
|
|
|
NM_006361.6(HOXB13):c.558A>G (p.Gly186=)
|
rs1597933806
|
|
|
NM_006361.6(HOXB13):c.558dup (p.Glu187fs)
|
rs1597933809
|
|
|
NM_006361.6(HOXB13):c.559_560insT (p.Glu187fs)
|
rs1597933803
|
|
|
NM_006361.6(HOXB13):c.55C>T (p.Leu19=)
|
rs1597935257
|
|
|
NM_006361.6(HOXB13):c.55del (p.Leu19fs)
|
rs1597935259
|
|
|
NM_006361.6(HOXB13):c.561A>T (p.Glu187Asp)
|
rs1597933795
|
|
|
NM_006361.6(HOXB13):c.564G>T (p.Gln188His)
|
rs1597933787
|
|
|
NM_006361.6(HOXB13):c.566dup (p.Asn189fs)
|
rs1597933784
|
|
|
NM_006361.6(HOXB13):c.567C>G (p.Asn189Lys)
|
rs143945091
|
|
|
NM_006361.6(HOXB13):c.569C>A (p.Pro190Gln)
|
rs1399523986
|
|
|
NM_006361.6(HOXB13):c.56T>C (p.Leu19Pro)
|
rs1597935255
|
|
|
NM_006361.6(HOXB13):c.56del (p.Leu19fs)
|
rs1597935256
|
|
|
NM_006361.6(HOXB13):c.570A>G (p.Pro190=)
|
rs754258114
|
|
|
NM_006361.6(HOXB13):c.573A>C (p.Pro191=)
|
rs1597933773
|
|
|
NM_006361.6(HOXB13):c.574G>C (p.Gly192Arg)
|
rs1274753809
|
|
|
NM_006361.6(HOXB13):c.575del (p.Gly192fs)
|
rs1597933767
|
|
|
NM_006361.6(HOXB13):c.578C>G (p.Pro193Arg)
|
rs1597933762
|
|
|
NM_006361.6(HOXB13):c.578C>T (p.Pro193Leu)
|
rs1597933762
|
|
|
NM_006361.6(HOXB13):c.57G>C (p.Leu19=)
|
rs1027470378
|
|
|
NM_006361.6(HOXB13):c.580T>C (p.Phe194Leu)
|
rs780355420
|
|
|
NM_006361.6(HOXB13):c.582_583insG (p.Trp195fs)
|
rs1597933756
|
|
|
NM_006361.6(HOXB13):c.583del (p.Trp195fs)
|
rs1597933754
|
|
|
NM_006361.6(HOXB13):c.584G>A (p.Trp195Ter)
|
rs1597933751
|
|
|
NM_006361.6(HOXB13):c.584G>C (p.Trp195Ser)
|
rs1597933751
|
|
|
NM_006361.6(HOXB13):c.585del (p.Phe194_Trp195insTer)
|
rs1597933747
|
|
|
NM_006361.6(HOXB13):c.586A>G (p.Lys196Glu)
|
rs1597933740
|
|
|
NM_006361.6(HOXB13):c.587A>C (p.Lys196Thr)
|
rs1597933731
|
|
|
NM_006361.6(HOXB13):c.587del (p.Lys196fs)
|
rs771483373
|
|
|
NM_006361.6(HOXB13):c.588G>A (p.Lys196=)
|
rs1597933728
|
|
|
NM_006361.6(HOXB13):c.588G>C (p.Lys196Asn)
|
rs1597933728
|
|
|
NM_006361.6(HOXB13):c.588G>T (p.Lys196Asn)
|
rs1597933728
|
|
|
NM_006361.6(HOXB13):c.589G>T (p.Ala197Ser)
|
rs756654236
|
|
|
NM_006361.6(HOXB13):c.589del (p.Ala197fs)
|
rs1597933725
|
|
|
NM_006361.6(HOXB13):c.58G>A (p.Gly20Arg)
|
rs1597935251
|
|
|
NM_006361.6(HOXB13):c.591A>G (p.Ala197=)
|
rs1597933713
|
|
|
NM_006361.6(HOXB13):c.594A>C (p.Ala198=)
|
rs1597933706
|
|
|
NM_006361.6(HOXB13):c.594del (p.Phe199fs)
|
rs1597933709
|
|
|
NM_006361.6(HOXB13):c.595T>C (p.Phe199Leu)
|
rs1597933703
|
|
|
NM_006361.6(HOXB13):c.597T>C (p.Phe199=)
|
rs1597933698
|
|
|
NM_006361.6(HOXB13):c.597dup (p.Ala200fs)
|
rs1597933702
|
|
|
NM_006361.6(HOXB13):c.598G>C (p.Ala200Pro)
|
rs750945370
|
|
|
NM_006361.6(HOXB13):c.599C>A (p.Ala200Glu)
|
rs1440293968
|
|
|
NM_006361.6(HOXB13):c.59del (p.Gly20fs)
|
rs1597935244
|
|
|
NM_006361.6(HOXB13):c.5A>C (p.Glu2Ala)
|
rs1597935440
|
|
|
NM_006361.6(HOXB13):c.5A>G (p.Glu2Gly)
|
rs1597935440
|
|
|
NM_006361.6(HOXB13):c.600dup (p.Asp201fs)
|
rs1597933685
|
|
|
NM_006361.6(HOXB13):c.601+18G>A
|
rs1597933657
|
|
|
NM_006361.6(HOXB13):c.601+19G>A
|
rs1597933655
|
|
|
NM_006361.6(HOXB13):c.601+19G>T
|
rs1597933655
|
|
|
NM_006361.6(HOXB13):c.601+23C>G
|
rs759189142
|
|
|
NM_006361.6(HOXB13):c.601+25T>G
|
rs1597933649
|
|
|
NM_006361.6(HOXB13):c.601+30T>A
|
rs1597933640
|
|
|
NM_006361.6(HOXB13):c.601+32T>A
|
rs1597933639
|
|
|
NM_006361.6(HOXB13):c.601+37C>T
|
rs1597933636
|
|
|
NM_006361.6(HOXB13):c.601+38T>G
|
rs1597933634
|
|
|
NM_006361.6(HOXB13):c.601+3A>C
|
rs1597933666
|
|
|
NM_006361.6(HOXB13):c.601+3A>T
|
rs1597933666
|
|
|
NM_006361.6(HOXB13):c.601+41G>T
|
rs1597933627
|
|
|
NM_006361.6(HOXB13):c.601+48G>C
|
rs1222228340
|
|
|
NM_006361.6(HOXB13):c.601+4C>G
|
rs1597933664
|
|
|
NM_006361.6(HOXB13):c.601+55A>G
|
rs1597933612
|
|
|
NM_006361.6(HOXB13):c.601+57G>A
|
rs1597933608
|
|
|
NM_006361.6(HOXB13):c.601+58G>T
|
rs143547955
|
|
|
NM_006361.6(HOXB13):c.601+5C>G
|
rs1597933663
|
|
|
NM_006361.6(HOXB13):c.601+62T>A
|
rs1597933604
|
|
|
NM_006361.6(HOXB13):c.601+64C>A
|
rs1597933603
|
|
|
NM_006361.6(HOXB13):c.601+66C>T
|
rs1597933599
|
|
|
NM_006361.6(HOXB13):c.601+69G>A
|
rs1597933598
|
|
|
NM_006361.6(HOXB13):c.601+72G>A
|
rs1597933590
|
|
|
NM_006361.6(HOXB13):c.601+75G>T
|
rs1597933582
|
|
|
NM_006361.6(HOXB13):c.601+81G>C
|
rs1597933581
|
|
|
NM_006361.6(HOXB13):c.601+85G>C
|
rs1597933579
|
|
|
NM_006361.6(HOXB13):c.601G>T (p.Asp201Tyr)
|
rs1597933678
|
|
|
NM_006361.6(HOXB13):c.601delinsTT (p.Asp201fs)
|
rs1597933681
|
|
|
NM_006361.6(HOXB13):c.602-103G>T
|
rs1597933244
|
|
|
NM_006361.6(HOXB13):c.602-103dup
|
rs1597933246
|
|
|
NM_006361.6(HOXB13):c.602-104T>G
|
rs1597933248
|
|
|
NM_006361.6(HOXB13):c.602-104dup
|
rs1597933251
|
|
|
NM_006361.6(HOXB13):c.602-105C>T
|
rs1597933255
|
|
|
NM_006361.6(HOXB13):c.602-108G>A
|
rs1597933258
|
|
|
NM_006361.6(HOXB13):c.602-110dup
|
rs1597933260
|
|
|
NM_006361.6(HOXB13):c.602-113A>G
|
rs1597933261
|
|
|
NM_006361.6(HOXB13):c.602-114T>A
|
rs1597933263
|
|
|
NM_006361.6(HOXB13):c.602-114T>G
|
rs1597933263
|
|
|
NM_006361.6(HOXB13):c.602-115G>T
|
rs1597933266
|
|
|
NM_006361.6(HOXB13):c.602-115dup
|
rs1597933269
|
|
|
NM_006361.6(HOXB13):c.602-120C>G
|
rs1597933270
|
|
|
NM_006361.6(HOXB13):c.602-12C>A
|
rs1597933106
|
|
|
NM_006361.6(HOXB13):c.602-16C>T
|
rs1597933108
|
|
|
NM_006361.6(HOXB13):c.602-30C>T
|
rs774673264
|
|
|
NM_006361.6(HOXB13):c.602-31C>G
|
rs1597933116
|
|
|
NM_006361.6(HOXB13):c.602-37A>C
|
rs1597933120
|
|
|
NM_006361.6(HOXB13):c.602-3C>A
|
rs1597933077
|
|
|
NM_006361.6(HOXB13):c.602-40C>A
|
rs1597933123
|
|
|
NM_006361.6(HOXB13):c.602-40C>T
|
rs1597933123
|
|
|
NM_006361.6(HOXB13):c.602-42A>T
|
rs1597933131
|
|
|
NM_006361.6(HOXB13):c.602-43T>A
|
rs1597933134
|
|
|
NM_006361.6(HOXB13):c.602-47T>G
|
rs1597933137
|
|
|
NM_006361.6(HOXB13):c.602-51T>G
|
rs1597933159
|
|
|
NM_006361.6(HOXB13):c.602-51delinsCC
|
rs1597933160
|
|
|
NM_006361.6(HOXB13):c.602-52A>C
|
rs1597933162
|
|
|
NM_006361.6(HOXB13):c.602-55T>C
|
rs1597933163
|
|
|
NM_006361.6(HOXB13):c.602-55T>G
|
rs1597933163
|
|
|
NM_006361.6(HOXB13):c.602-61T>A
|
rs1597933169
|
|
|
NM_006361.6(HOXB13):c.602-61T>G
|
rs1597933169
|
|
|
NM_006361.6(HOXB13):c.602-62delinsAA
|
rs1597933172
|
|
|
NM_006361.6(HOXB13):c.602-64G>C
|
rs746927039
|
|
|
NM_006361.6(HOXB13):c.602-66dup
|
rs1597933182
|
|
|
NM_006361.6(HOXB13):c.602-69G>C
|
rs556583174
|
|
|
NM_006361.6(HOXB13):c.602-71T>C
|
rs1597933186
|
|
|
NM_006361.6(HOXB13):c.602-71_602-70insC
|
rs1597933185
|
|
|
NM_006361.6(HOXB13):c.602-72_602-71insA
|
rs1597933188
|
|
|
NM_006361.6(HOXB13):c.602-75G>A
|
rs1597933195
|
|
|
NM_006361.6(HOXB13):c.602-79C>G
|
rs1597933200
|
|
|
NM_006361.6(HOXB13):c.602-79C>T
|
rs1597933200
|
|
|
NM_006361.6(HOXB13):c.602-80dup
|
rs1597933203
|
|
|
NM_006361.6(HOXB13):c.602-81_602-80insC
|
rs1597933206
|
|
|
NM_006361.6(HOXB13):c.602-82T>G
|
rs1597933213
|
|
|
NM_006361.6(HOXB13):c.602-84C>A
|
rs1024986667
|
|
|
NM_006361.6(HOXB13):c.602-86G>A
|
rs1597933215
|
|
|
NM_006361.6(HOXB13):c.602-87T>A
|
rs1597933217
|
|
|
NM_006361.6(HOXB13):c.602-89G>A
|
rs1597933220
|
|
|
NM_006361.6(HOXB13):c.602-90A>T
|
rs1597933225
|
|
|
NM_006361.6(HOXB13):c.602-91G>A
|
rs1597933229
|
|
|
NM_006361.6(HOXB13):c.602-94dup
|
rs1597933230
|
|
|
NM_006361.6(HOXB13):c.602-95C>G
|
rs1280633931
|
|
|
NM_006361.6(HOXB13):c.602-97A>C
|
rs1597933239
|
|
|
NM_006361.6(HOXB13):c.603C>A (p.Asp201Glu)
|
rs1597933068
|
|
|
NM_006361.6(HOXB13):c.603C>T (p.Asp201=)
|
rs1597933068
|
|
|
NM_006361.6(HOXB13):c.603del (p.Ser202fs)
|
rs1597933069
|
|
|
NM_006361.6(HOXB13):c.604dup (p.Ser202fs)
|
rs1597933066
|
|
|
NM_006361.6(HOXB13):c.609C>G (p.Ser203Arg)
|
rs1343659361
|
|
|
NM_006361.6(HOXB13):c.609del (p.Ser203fs)
|
rs1597933057
|
|
|
NM_006361.6(HOXB13):c.60A>G (p.Gly20=)
|
rs1597935240
|
|
|
NM_006361.6(HOXB13):c.612dup (p.Gln205fs)
|
rs1597933040
|
|
|
NM_006361.6(HOXB13):c.613C>G (p.Gln205Glu)
|
rs1387241173
|
|
|
NM_006361.6(HOXB13):c.614A>T (p.Gln205Leu)
|
rs761530565
|
|
|
NM_006361.6(HOXB13):c.614dup (p.His206fs)
|
rs1597933031
|
|
|
NM_006361.6(HOXB13):c.615G>T (p.Gln205His)
|
rs766169510
|
|
|
NM_006361.6(HOXB13):c.615_616insGC (p.His206fs)
|
rs1597933018
|
|
|
NM_006361.6(HOXB13):c.617A>C (p.His206Pro)
|
rs1597933012
|
|
|
NM_006361.6(HOXB13):c.617A>T (p.His206Leu)
|
rs1597933012
|
|
|
NM_006361.6(HOXB13):c.619C>T (p.Pro207Ser)
|
rs1597933009
|
|
|
NM_006361.6(HOXB13):c.61del (p.Ala21fs)
|
rs1597935236
|
|
|
NM_006361.6(HOXB13):c.61dup (p.Ala21fs)
|
rs1597935235
|
|
|
NM_006361.6(HOXB13):c.623C>T (p.Pro208Leu)
|
rs1597932994
|
|
|
NM_006361.6(HOXB13):c.623del (p.Pro208fs)
|
rs1597932995
|
|
|
NM_006361.6(HOXB13):c.625G>A (p.Asp209Asn)
|
rs1597932987
|
|
|
NM_006361.6(HOXB13):c.626A>C (p.Asp209Ala)
|
rs1597932982
|
|
|
NM_006361.6(HOXB13):c.627C>G (p.Asp209Glu)
|
rs1175181412
|
|
|
NM_006361.6(HOXB13):c.62C>G (p.Ala21Gly)
|
rs772484566
|
|
|
NM_006361.6(HOXB13):c.62del (p.Ala21fs)
|
rs1597935233
|
|
|
NM_006361.6(HOXB13):c.630C>G (p.Ala210=)
|
rs1597932970
|
|
|
NM_006361.6(HOXB13):c.630C>T (p.Ala210=)
|
rs1597932970
|
|
|
NM_006361.6(HOXB13):c.631dup (p.Cys211fs)
|
rs1597932968
|
|
|
NM_006361.6(HOXB13):c.634G>C (p.Ala212Pro)
|
rs145059285
|
|
|
NM_006361.6(HOXB13):c.639T>C (p.Phe213=)
|
rs1597932949
|
|
|
NM_006361.6(HOXB13):c.640C>A (p.Arg214Ser)
|
rs1187061907
|
|
|
NM_006361.6(HOXB13):c.640del (p.Arg214fs)
|
rs1597932942
|
|
|
NM_006361.6(HOXB13):c.641G>C (p.Arg214Pro)
|
rs1466480316
|
|
|
NM_006361.6(HOXB13):c.643del (p.Arg215fs)
|
rs1597932928
|
|
|
NM_006361.6(HOXB13):c.646G>C (p.Gly216Arg)
|
rs375917549
|
|
|
NM_006361.6(HOXB13):c.647dup (p.Arg217fs)
|
rs1597932913
|
|
|
NM_006361.6(HOXB13):c.650G>C (p.Arg217Pro)
|
rs749518336
|
|
|
NM_006361.6(HOXB13):c.651C>A (p.Arg217=)
|
rs1597932901
|
|
|
NM_006361.6(HOXB13):c.654G>A (p.Lys218=)
|
rs1597932894
|
|
|
NM_006361.6(HOXB13):c.654del (p.Lys219fs)
|
rs1597932897
|
|
|
NM_006361.6(HOXB13):c.657A>C (p.Lys219Asn)
|
rs1597932892
|
|
|
NM_006361.6(HOXB13):c.657dup (p.Arg220fs)
|
rs1597932893
|
|
|
NM_006361.6(HOXB13):c.658del (p.Arg220fs)
|
rs1597932885
|
|
|
NM_006361.6(HOXB13):c.660dup (p.Ile221fs)
|
rs1597932876
|
|
|
NM_006361.6(HOXB13):c.665del (p.Pro222fs)
|
rs1597932866
|
|
|
NM_006361.6(HOXB13):c.666dup (p.Tyr223fs)
|
rs1597932860
|
|
|
NM_006361.6(HOXB13):c.667T>G (p.Tyr223Asp)
|
rs1365586165
|
|
|
NM_006361.6(HOXB13):c.66A>C (p.Gly22=)
|
rs1597935219
|
|
|
NM_006361.6(HOXB13):c.66A>G (p.Gly22=)
|
rs1597935219
|
|
|
NM_006361.6(HOXB13):c.671G>C (p.Ser224Thr)
|
rs1597932847
|
|
|
NM_006361.6(HOXB13):c.671G>T (p.Ser224Ile)
|
rs1597932847
|
|
|
NM_006361.6(HOXB13):c.678del (p.Gln227fs)
|
rs1597932836
|
|
|
NM_006361.6(HOXB13):c.67G>C (p.Gly23Arg)
|
rs769323553
|
|
|
NM_006361.6(HOXB13):c.67_68insC (p.Gly23fs)
|
rs1597935217
|
|
|
NM_006361.6(HOXB13):c.688G>A (p.Glu230Lys)
|
rs1302905544
|
|
|
NM_006361.6(HOXB13):c.68G>C (p.Gly23Ala)
|
rs745392080
|
|
|
NM_006361.6(HOXB13):c.695A>G (p.Glu232Gly)
|
rs1597932808
|
|
|
NM_006361.6(HOXB13):c.696G>C (p.Glu232Asp)
|
rs1597932804
|
|
|
NM_006361.6(HOXB13):c.696del (p.Glu232fs)
|
rs1597932805
|
|
|
NM_006361.6(HOXB13):c.69G>A (p.Gly23=)
|
rs1597935212
|
|
|
NM_006361.6(HOXB13):c.6_7insA (p.Pro3fs)
|
rs1597935423
|
|
|
NM_006361.6(HOXB13):c.701dup (p.Tyr235fs)
|
rs1597932794
|
|
|
NM_006361.6(HOXB13):c.704A>T (p.Tyr235Phe)
|
rs1597932789
|
|
|
NM_006361.6(HOXB13):c.705del (p.Glu234_Tyr235insTer)
|
rs1597932786
|
|
|
NM_006361.6(HOXB13):c.706del (p.Ala236fs)
|
rs1597932784
|
|
|
NM_006361.6(HOXB13):c.707C>G (p.Ala236Gly)
|
rs754487444
|
|
|
NM_006361.6(HOXB13):c.708G>C (p.Ala236=)
|
rs555201890
|
|
|
NM_006361.6(HOXB13):c.70G>C (p.Gly24Arg)
|
rs780947625
|
|
|
NM_006361.6(HOXB13):c.710C>T (p.Ala237Val)
|
rs1597932777
|
|
|
NM_006361.6(HOXB13):c.711dup (p.Asn238Ter)
|
rs1597932775
|
|
|
NM_006361.6(HOXB13):c.712A>T (p.Asn238Tyr)
|
rs1597932772
|
|
|
NM_006361.6(HOXB13):c.716del (p.Lys239fs)
|
rs1597932766
|
|
|
NM_006361.6(HOXB13):c.717del (p.Lys239fs)
|
rs1597932763
|
|
|
NM_006361.6(HOXB13):c.720C>T (p.Phe240=)
|
rs1597932759
|
|
|
NM_006361.6(HOXB13):c.724A>C (p.Thr242Pro)
|
rs1597932755
|
|
|
NM_006361.6(HOXB13):c.725C>A (p.Thr242Asn)
|
rs1254153147
|
|
|
NM_006361.6(HOXB13):c.726C>T (p.Thr242=)
|
rs1597932743
|
|
|
NM_006361.6(HOXB13):c.727A>C (p.Lys243Gln)
|
rs1597932741
|
|
|
NM_006361.6(HOXB13):c.727A>T (p.Lys243Ter)
|
rs1597932741
|
|
|
NM_006361.6(HOXB13):c.729_735del (p.Asp244fs)
|
rs1597932727
|
|
|
NM_006361.6(HOXB13):c.730dup (p.Asp244fs)
|
rs1597932737
|
|
|
NM_006361.6(HOXB13):c.731A>G (p.Asp244Gly)
|
rs1597932732
|
|
|
NM_006361.6(HOXB13):c.734del (p.Lys245fs)
|
rs1597932729
|
|
|
NM_006361.6(HOXB13):c.736dup (p.Arg246fs)
|
rs1597932718
|
|
|
NM_006361.6(HOXB13):c.73C>T (p.Arg25Trp)
|
rs1597935204
|
|
|
NM_006361.6(HOXB13):c.740G>C (p.Arg247Pro)
|
rs767502912
|
|
|
NM_006361.6(HOXB13):c.740del (p.Arg247fs)
|
rs1597932706
|
|
|
NM_006361.6(HOXB13):c.742A>C (p.Lys248Gln)
|
rs1243575757
|
|
|
NM_006361.6(HOXB13):c.743A>T (p.Lys248Met)
|
rs1597932694
|
|
|
NM_006361.6(HOXB13):c.744G>T (p.Lys248Asn)
|
rs1597932691
|
|
|
NM_006361.6(HOXB13):c.746T>A (p.Ile249Asn)
|
rs1597932688
|
|
|
NM_006361.6(HOXB13):c.747C>T (p.Ile249=)
|
rs761824576
|
|
|
NM_006361.6(HOXB13):c.749C>G (p.Ser250Trp)
|
rs751610575
|
|
|
NM_006361.6(HOXB13):c.750G>C (p.Ser250=)
|
rs764201750
|
|
|
NM_006361.6(HOXB13):c.751del (p.Ala251fs)
|
rs1597932670
|
|
|
NM_006361.6(HOXB13):c.753A>C (p.Ala251=)
|
rs762991673
|
|
|
NM_006361.6(HOXB13):c.753del (p.Ala252fs)
|
rs1597932666
|
|
|
NM_006361.6(HOXB13):c.757A>T (p.Thr253Ser)
|
rs775731553
|
|
|
NM_006361.6(HOXB13):c.757_758del (p.Thr253fs)
|
rs1597932641
|
|
|
NM_006361.6(HOXB13):c.757del (p.Thr253fs)
|
rs1597932656
|
|
|
NM_006361.6(HOXB13):c.760A>C (p.Ser254Arg)
|
rs1597932626
|
|
|
NM_006361.6(HOXB13):c.760del (p.Ser254fs)
|
rs1597932635
|
|
|
NM_006361.6(HOXB13):c.760delinsCC (p.Ser254fs)
|
rs1597932629
|
|
|
NM_006361.6(HOXB13):c.762C>T (p.Ser254=)
|
rs1597932620
|
|
|
NM_006361.6(HOXB13):c.763dup (p.Leu255fs)
|
rs1597932616
|
|
|
NM_006361.6(HOXB13):c.765C>T (p.Leu255=)
|
rs1597932610
|
|
|
NM_006361.6(HOXB13):c.767C>G (p.Ser256Trp)
|
rs1555558453
|
|
|
NM_006361.6(HOXB13):c.768G>C (p.Ser256=)
|
rs917899187
|
|
|
NM_006361.6(HOXB13):c.769dup (p.Glu257fs)
|
rs770443137
|
|
|
NM_006361.6(HOXB13):c.76A>G (p.Asn26Asp)
|
rs1597935195
|
|
|
NM_006361.6(HOXB13):c.770A>G (p.Glu257Gly)
|
rs1597932595
|
|
|
NM_006361.6(HOXB13):c.771G>A (p.Glu257=)
|
rs1597932591
|
|
|
NM_006361.6(HOXB13):c.772del (p.Arg258fs)
|
rs1597932585
|
|
|
NM_006361.6(HOXB13):c.774C>G (p.Arg258=)
|
rs771352907
|
|
|
NM_006361.6(HOXB13):c.776A>C (p.Gln259Pro)
|
rs1597932564
|
|
|
NM_006361.6(HOXB13):c.776del (p.Gln259fs)
|
rs1597932567
|
|
|
NM_006361.6(HOXB13):c.77A>C (p.Asn26Thr)
|
rs1597935191
|
|
|
NM_006361.6(HOXB13):c.784A>C (p.Ile262Leu)
|
rs1207429780
|
|
|
NM_006361.6(HOXB13):c.784del (p.Ile262fs)
|
rs1597932545
|
|
|
NM_006361.6(HOXB13):c.789dup (p.Phe264fs)
|
rs1597932539
|
|
|
NM_006361.6(HOXB13):c.78T>A (p.Asn26Lys)
|
rs1597935187
|
|
|
NM_006361.6(HOXB13):c.790T>G (p.Phe264Val)
|
rs1597932533
|
|
|
NM_006361.6(HOXB13):c.795G>T (p.Gln265His)
|
rs1291038862
|
|
|
NM_006361.6(HOXB13):c.795del (p.Asn266fs)
|
rs1597932525
|
|
|
NM_006361.6(HOXB13):c.796A>C (p.Asn266His)
|
rs1597932521
|
|
|
NM_006361.6(HOXB13):c.797A>C (p.Asn266Thr)
|
rs1597932515
|
|
|
NM_006361.6(HOXB13):c.799dup (p.Arg267fs)
|
rs1597932507
|
|
|
NM_006361.6(HOXB13):c.79C>A (p.Leu27Met)
|
rs1597935186
|
|
|
NM_006361.6(HOXB13):c.79C>G (p.Leu27Val)
|
rs1597935186
|
|
|
NM_006361.6(HOXB13):c.7C>G (p.Pro3Ala)
|
rs546307661
|
|
|
NM_006361.6(HOXB13):c.800G>C (p.Arg267Pro)
|
rs1403127755
|
|
|
NM_006361.6(HOXB13):c.800del (p.Arg267fs)
|
rs1597932495
|
|
|
NM_006361.6(HOXB13):c.802dup (p.Arg268fs)
|
rs1597932489
|
|
|
NM_006361.6(HOXB13):c.805G>T (p.Val269Phe)
|
rs1597932479
|
|
|
NM_006361.6(HOXB13):c.807C>G (p.Val269=)
|
rs1289659465
|
|
|
NM_006361.6(HOXB13):c.807del (p.Glu271fs)
|
rs1597932473
|
|
|
NM_006361.6(HOXB13):c.811G>A (p.Glu271Lys)
|
rs1597932467
|
|
|
NM_006361.6(HOXB13):c.811del (p.Glu271fs)
|
rs1597932468
|
|
|
NM_006361.6(HOXB13):c.812dup (p.Lys272fs)
|
rs1597932465
|
|
|
NM_006361.6(HOXB13):c.813G>A (p.Glu271=)
|
rs1597932461
|
|
|
NM_006361.6(HOXB13):c.813G>T (p.Glu271Asp)
|
rs1597932461
|
|
|
NM_006361.6(HOXB13):c.815del (p.Lys272fs)
|
rs1597932456
|
|
|
NM_006361.6(HOXB13):c.816G>A (p.Lys272=)
|
rs1597932452
|
|
|
NM_006361.6(HOXB13):c.816G>T (p.Lys272Asn)
|
rs1597932452
|
|
|
NM_006361.6(HOXB13):c.81G>T (p.Leu27=)
|
rs1319038051
|
|
|
NM_006361.6(HOXB13):c.81_86del (p.Val28_Ala29del)
|
rs1597935163
|
|
|
NM_006361.6(HOXB13):c.821T>G (p.Val274Gly)
|
rs1597932443
|
|
|
NM_006361.6(HOXB13):c.822del (p.Leu275fs)
|
rs1597932441
|
|
|
NM_006361.6(HOXB13):c.829A>C (p.Lys277Gln)
|
rs1597932430
|
|
|
NM_006361.6(HOXB13):c.82G>T (p.Val28Phe)
|
rs1597935171
|
|
|
NM_006361.6(HOXB13):c.82del (p.Val28fs)
|
rs1597935175
|
|
|
NM_006361.6(HOXB13):c.830del (p.Lys277fs)
|
rs1597932429
|
|
|
NM_006361.6(HOXB13):c.832del (p.Lys277_Val278insTer)
|
rs1597932428
|
|
|
NM_006361.6(HOXB13):c.833del (p.Val278fs)
|
rs1597932416
|
|
|
NM_006361.6(HOXB13):c.837G>A (p.Lys279=)
|
rs1597932409
|
|
|
NM_006361.6(HOXB13):c.840C>A (p.Asn280Lys)
|
rs1597932404
|
|
|
NM_006361.6(HOXB13):c.842del (p.Ser281fs)
|
rs1597932400
|
|
|
NM_006361.6(HOXB13):c.844G>C (p.Ala282Pro)
|
rs752722523
|
|
|
NM_006361.6(HOXB13):c.846del (p.Thr283fs)
|
rs1597932390
|
|
|
NM_006361.6(HOXB13):c.84del (p.Ala29fs)
|
rs1597935169
|
|
|
NM_006361.6(HOXB13):c.851dup (p.Ter285LeuextTer?)
|
rs1597932381
|
|
|
NM_006361.6(HOXB13):c.852T>C (p.Pro284=)
|
rs1597932380
|
|
|
NM_006361.6(HOXB13):c.853_854insTA (p.Ter285LeuextTer?)
|
|
|
|
NM_006361.6(HOXB13):c.85G>C (p.Ala29Pro)
|
rs756970136
|
|
|
NM_006361.6(HOXB13):c.86C>A (p.Ala29Asp)
|
rs1223082509
|
|
|
NM_006361.6(HOXB13):c.88C>T (p.His30Tyr)
|
rs1597935153
|
|
|
NM_006361.6(HOXB13):c.88del (p.His30fs)
|
rs1597935158
|
|
|
NM_006361.6(HOXB13):c.91T>C (p.Ser31Pro)
|
rs1597935143
|
|
|
NM_006361.6(HOXB13):c.95del (p.Pro32fs)
|
rs1597935131
|
|
|
NM_006361.6(HOXB13):c.97C>G (p.Leu33Val)
|
rs79344505
|
|
|
NM_006361.6(HOXB13):c.97del (p.Pro32_Leu33insTer)
|
rs1597935122
|
|
|
NM_006361.6(HOXB13):c.9C>G (p.Pro3=)
|
rs1597935416
|
|
|
NM_006361.6(HOXB13):c.9_10insT (p.Gly4fs)
|
rs1597935413
|
|
|
NM_006412.4(AGPAT2):c.248del (p.Pro83fs)
|
rs193920848
|
|
|
NM_006517.5(SLC16A2):c.1451G>T (p.Gly484Val)
|
rs193920756
|
|
|
NM_006587.4(CORIN):c.1400C>G (p.Pro467Arg)
|
rs193921036
|
|
|
NM_006639.4(CYSLTR1):c.68del (p.Asn23fs)
|
rs193920986
|
|
|
NM_006790.3(MYOT):c.686G>T (p.Ser229Ile)
|
rs193920888
|
|
|
NM_006833.5(COPS6):c.631A>C (p.Ser211Arg)
|
rs193921011
|
|
|
NM_007002.4(ADRM1):c.653C>A (p.Pro218Gln)
|
rs193921052
|
|
|
NM_007039.4(PTPN21):c.94A>C (p.Asn32His)
|
rs193920899
|
|
|
NM_007067.5(KAT7):c.1687C>T (p.Gln563Ter)
|
rs193921114
|
|
|
NM_007112.5(THBS3):c.1440G>T (p.Gln480His)
|
rs193920931
|
|
|
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys)
|
rs876658337
|
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
|
NM_007194.4(CHEK2):c.1375+3A>G
|
rs876659868
|
|
|
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)
|
rs587782489
|
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
|
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)
|
rs587781705
|
|
|
NM_007194.4(CHEK2):c.319+3965C>T
|
rs766676371
|
|
|
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.684-2A>G
|
rs2053419665
|
|
|
NM_007194.4(CHEK2):c.686G>A (p.Gly229Asp)
|
rs778212685
|
|
|
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)
|
rs121908702
|
|
|
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val)
|
rs779457035
|
|
|
NM_007194.4(CHEK2):c.749TCA[1] (p.Ile251del)
|
rs1601783129
|
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
|
NM_007194.4(CHEK2):c.796C>A (p.Pro266Thr)
|
rs1601777776
|
|
|
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu)
|
rs876661053
|
|
|
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro)
|
rs750984976
|
|
|
NM_007203.5(PALM2AKAP2):c.625G>T (p.Glu209Ter)
|
rs193920924
|
|
|
NM_007294.4(BRCA1):c.4339C>T (p.Gln1447Ter)
|
rs80357067
|
|
|
NM_007327.4(GRIN1):c.350C>T (p.Pro117Leu)
|
rs193920837
|
|
|
NM_012090.4(MACF1):c.6753-2_6754delAGAG
|
rs193920778
|
|
|
NM_012120.3(CD2AP):c.560C>T (p.Pro187Leu)
|
rs864622037
|
|
|
NM_012161.4(FBXL5):c.1654del (p.Cys552fs)
|
rs864622020
|
|
|
NM_012301.4(MAGI2):c.1340A>T (p.Asp447Val)
|
rs193920987
|
|
|
NM_012424.6(RPS6KC1):c.3163T>C (p.Phe1055Leu)
|
rs193921071
|
|
|
NM_012426.5(SF3B3):c.1501G>T (p.Gly501Trp)
|
rs193921118
|
|
|
NM_013289.4(KIR3DL1):c.809G>A (p.Arg270His)
|
rs193921077
|
|
|
NM_013340.4(PCDHB1):c.1655T>C (p.Val552Ala)
|
rs193920928
|
|
|
NM_013341.5(OLA1):c.787T>G (p.Phe263Val)
|
rs193920787
|
|
|
NM_013373.4(ZDHHC8):c.1022C>A (p.Ala341Asp)
|
rs193920775
|
|
|
NM_014225.6(PPP2R1A):c.547C>G (p.Arg183Gly)
|
rs1057519946
|
|
|
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp)
|
rs1057519946
|
|
|
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)
|
rs1057519947
|
|
|
NM_014236.4(GNPAT):c.1935G>C (p.Lys645Asn)
|
rs193920851
|
|
|
NM_014243.3(ADAMTS3):c.64G>T (p.Gly22Ter)
|
rs193921131
|
|
|
NM_014258.4(SYCP2):c.2365-8T>C
|
rs193921008
|
|
|
NM_014320.3(HEBP2):c.125A>G (p.His42Arg)
|
rs193920889
|
|
|
NM_014364.5(GAPDHS):c.1129G>A (p.Asp377Asn)
|
rs193920833
|
|
|
NM_014458.4(KLHL20):c.257del (p.Leu86fs)
|
rs193920902
|
|
|
NM_014475.4(DHDH):c.611A>T (p.His204Leu)
|
rs757900117
|
|
|
NM_014639.4(SKIC3):c.140G>C (p.Gly47Ala)
|
rs193920885
|
|
|
NM_014680.5(BLTP2):c.3387G>A (p.Trp1129Ter)
|
rs193920746
|
|
|
NM_014683.4(ULK2):c.514G>T (p.Ala172Ser)
|
rs193921089
|
|
|
NM_014738.6(TMEM94):c.953A>G (p.Gln318Arg)
|
rs193921068
|
|
|
NM_014757.5(MAML1):c.1163G>T (p.Gly388Val)
|
rs193920768
|
|
|
NM_014777.4(URB2):c.1372C>G (p.Gln458Glu)
|
rs193921013
|
|
|
NM_014853.3(SGSM2):c.1696G>A (p.Val566Met)
|
rs864622032
|
|
|
NM_014916.4(LMTK2):c.651_652del (p.Cys217_Asp218delinsTer)
|
rs864622025
|
|
|
NM_014982.3(PCNX1):c.3049G>T (p.Ala1017Ser)
|
rs193920949
|
|
|
NM_014991.6(WDFY3):c.10260-7C>G
|
rs193920758
|
|
|
NM_014991.6(WDFY3):c.2630C>A (p.Ala877Asp)
|
rs193920805
|
|
|
NM_014991.6(WDFY3):c.8444G>T (p.Gly2815Val)
|
rs1578183451
|
|
|
NM_015057.5(MYCBP2):c.7770G>A (p.Met2590Ile)
|
rs193920951
|
|
|
NM_015178.3(RHOBTB2):c.392C>G (p.Pro131Arg)
|
rs193920745
|
|
|
NM_015208.5(ANKRD12):c.2593G>T (p.Asp865Tyr)
|
rs864622035
|
|
|
NM_015330.6(SPECC1L):c.464G>T (p.Arg155Leu)
|
rs193920978
|
|
|
NM_015373.4(CBY1):c.346C>G (p.Leu116Val)
|
rs193920893
|
|
|
NM_015459.5(ATL3):c.1200G>T (p.Lys400Asn)
|
rs864622016
|
|
|
NM_015691.5(WWC3):c.2464C>A (p.Leu822Met)
|
rs193921110
|
|
|
NM_015868.3(KIR2DL3):c.71-4C>T
|
rs193921051
|
|
|
NM_015938.5(NMD3):c.503C>T (p.Thr168Ile)
|
rs193920996
|
|
|
NM_016112.3(PKD2L1):c.70G>A (p.Ala24Thr)
|
rs193920845
|
|
|
NM_016120.4(RLIM):c.260del (p.Asp87fs)
|
rs193920920
|
|
|
NM_016162.4(ING4):c.326C>A (p.Ala109Asp)
|
rs193921122
|
|
|
NM_016169.4(SUFU):c.875G>A (p.Cys292Tyr)
|
rs193921097
|
|
|
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_016339.6(RAPGEFL1):c.851A>G (p.Gln284Arg)
|
rs864622033
|
|
|
NM_016382.4(CD244):c.971G>A (p.Arg324Lys)
|
rs193921024
|
|
|
NM_016427.3(ELOA2):c.367T>C (p.Ser123Pro)
|
rs193920804
|
|
|
NM_017449.5(EPHB2):c.2164C>T (p.Gln722Ter)
|
rs121912582
|
|
|
NM_017631.6(DDX60):c.1913A>G (p.Gln638Arg)
|
rs864622021
|
|
|
NM_017632.4(CDKN2AIP):c.914T>G (p.Leu305Arg)
|
rs193921061
|
|
|
NM_017712.4(PGPEP1):c.434G>A (p.Gly145Asp)
|
rs193921074
|
|
|
NM_017864.4(INTS8):c.166del (p.Glu56fs)
|
rs193920861
|
|
|
NM_018071.5(ARHGEF40):c.1177C>G (p.Arg393Gly)
|
rs753872972
|
|
|
NM_018078.4(LARP1B):c.1324G>T (p.Asp442Tyr)
|
rs193920764
|
|
|
NM_018090.5(NECAP2):c.462G>T (p.Glu154Asp)
|
rs193921123
|
|
|
NM_018092.5(NETO2):c.1532G>C (p.Arg511Thr)
|
rs193920943
|
|
|
NM_018127.7(ELAC2):c.1305-8delinsCTCTC
|
rs1064794813
|
|
|
NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys)
|
rs9895963
|
|
|
NM_018127.7(ELAC2):c.155C>T (p.Ser52Phe)
|
rs9895963
|
|
|
NM_018127.7(ELAC2):c.1560A>G (p.Thr520=)
|
rs11545302
|
|
|
NM_018127.7(ELAC2):c.1698+1G>C
|
rs1085307065
|
|
|
NM_018127.7(ELAC2):c.1780C>G (p.Gln594Glu)
|
rs1435693717
|
|
|
NM_018127.7(ELAC2):c.1865A>G (p.Glu622Gly)
|
rs119484087
|
|
|
NM_018127.7(ELAC2):c.1908+1G>A
|
rs1014558424
|
|
|
NM_018127.7(ELAC2):c.225C>A (p.Tyr75Ter)
|
|
|
|
NM_018127.7(ELAC2):c.225C>G (p.Tyr75Ter)
|
rs766731755
|
|
|
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu)
|
rs397515465
|
|
|
NM_018189.4(DPPA4):c.907T>C (p.Trp303Arg)
|
rs193920923
|
|
|
NM_018358.3(ABCF3):c.1327C>T (p.Arg443Trp)
|
rs143852274
|
|
|
NM_018389.5(SLC35C1):c.556G>A (p.Asp186Asn)
|
rs193920915
|
|
|
NM_018433.6(KDM3A):c.2685+6TGTT[2]
|
rs193921056
|
|
|
NM_018448.5(CAND1):c.737G>A (p.Gly246Asp)
|
rs193921038
|
|
|
NM_018557.3(LRP1B):c.10187G>C (p.Cys3396Ser)
|
rs193920865
|
|
|
NM_018557.3(LRP1B):c.6648G>T (p.Glu2216Asp)
|
rs193921022
|
|
|
NM_018714.3(COG1):c.1348C>T (p.Gln450Ter)
|
rs193921130
|
|
|
NM_018714.3(COG1):c.2125G>A (p.Val709Ile)
|
rs193920973
|
|
|
NM_018715.4(RCC2):c.782G>C (p.Cys261Ser)
|
rs864622010
|
|
|
NM_018901.4(PCDHA10):c.1166C>T (p.Thr389Met)
|
rs193920994
|
|
|
NM_018945.4(PDE7B):c.742C>T (p.Arg248Ter)
|
rs193920799
|
|
|
NM_019030.4(DHX29):c.875A>T (p.Glu292Val)
|
rs193920824
|
|
|
NM_020062.4(SLC2A4RG):c.1060C>A (p.Arg354Ser)
|
rs193920971
|
|
|
NM_020190.5(OLFML3):c.402C>G (p.Asp134Glu)
|
rs193920761
|
|
|
NM_020361.5(CPA6):c.1217G>C (p.Gly406Ala)
|
rs193921039
|
|
|
NM_020382.7(KMT5A):c.290-3C>A
|
rs193920812
|
|
|
NM_020529.3(NFKBIA):c.560T>C (p.Leu187Pro)
|
rs2138831226
|
|
|
NM_020653.4(ZNF287):c.1093G>C (p.Glu365Gln)
|
rs193920744
|
|
|
NM_020657.4(ZNF304):c.1400T>A (p.Ile467Lys)
|
rs193920881
|
|
|
NM_020693.4(DSCAML1):c.2141A>G (p.Asp714Gly)
|
rs193920955
|
|
|
NM_020786.4(PDP2):c.890A>G (p.Asn297Ser)
|
rs193921129
|
|
|
NM_020904.3(PLEKHA4):c.20_28del (p.Arg7_Ser9del)
|
rs193920946
|
|
|
NM_020981.4(B3GALT1):c.543del (p.Phe181fs)
|
rs193920868
|
|
|
NM_021115.5(SEZ6L):c.1515-5G>A
|
rs193920909
|
|
|
NM_021115.5(SEZ6L):c.778G>T (p.Glu260Ter)
|
rs193920876
|
|
|
NM_021133.4(RNASEL):c.1033dup (p.Ala345fs)
|
|
|
|
NM_021133.4(RNASEL):c.1127_1129del (p.Glu376del)
|
|
|
|
NM_021133.4(RNASEL):c.1208G>C (p.Arg403Pro)
|
rs141194514
|
|
|
NM_021133.4(RNASEL):c.1219del (p.Cys407fs)
|
rs2102370333
|
|
|
NM_021133.4(RNASEL):c.1222C>T (p.Leu408=)
|
rs2102370326
|
|
|
NM_021133.4(RNASEL):c.1222del (p.Leu408fs)
|
rs2102370328
|
|
|
NM_021133.4(RNASEL):c.1230C>A (p.Ser410Arg)
|
rs989361325
|
|
|
NM_021133.4(RNASEL):c.1234del (p.Arg412fs)
|
rs2102370300
|
|
|
NM_021133.4(RNASEL):c.1237G>A (p.Glu413Lys)
|
rs2102370287
|
|
|
NM_021133.4(RNASEL):c.1239G>A (p.Glu413=)
|
rs1186074827
|
|
|
NM_021133.4(RNASEL):c.1243A>G (p.Ser415Gly)
|
rs2102370272
|
|
|
NM_021133.4(RNASEL):c.1248del (p.Leu417fs)
|
rs2102370267
|
|
|
NM_021133.4(RNASEL):c.1250del (p.Leu417fs)
|
rs2102370262
|
|
|
NM_021133.4(RNASEL):c.1250dup (p.Leu417fs)
|
rs2102370262
|
|
|
NM_021133.4(RNASEL):c.1252_1253insA (p.Val418fs)
|
rs2102370252
|
|
|
NM_021133.4(RNASEL):c.1253dup (p.Thr419fs)
|
rs2102370247
|
|
|
NM_021133.4(RNASEL):c.1256C>A (p.Thr419Lys)
|
rs2102370237
|
|
|
NM_021133.4(RNASEL):c.1256del (p.Thr419fs)
|
rs2102370243
|
|
|
NM_021133.4(RNASEL):c.1257A>T (p.Thr419=)
|
rs2102370230
|
|
|
NM_021133.4(RNASEL):c.1257del (p.Phe420fs)
|
rs2102370233
|
|
|
NM_021133.4(RNASEL):c.1259dup (p.Tyr421fs)
|
rs2102370225
|
|
|
NM_021133.4(RNASEL):c.1263T>C (p.Tyr421=)
|
rs2102370209
|
|
|
NM_021133.4(RNASEL):c.1264G>T (p.Gly422Trp)
|
rs2102370198
|
|
|
NM_021133.4(RNASEL):c.1266dup (p.Ser423fs)
|
rs2102370197
|
|
|
NM_021133.4(RNASEL):c.1268del (p.Ser423fs)
|
rs2102370194
|
|
|
NM_021133.4(RNASEL):c.1270G>C (p.Glu424Gln)
|
rs1053454537
|
|
|
NM_021133.4(RNASEL):c.1273dup (p.Ser425fs)
|
rs2102370187
|
|
|
NM_021133.4(RNASEL):c.1279del (p.Arg427fs)
|
rs2102370169
|
|
|
NM_021133.4(RNASEL):c.1285dup (p.His429fs)
|
rs2102370147
|
|
|
NM_021133.4(RNASEL):c.1286del (p.His429fs)
|
rs2102370138
|
|
|
NM_021133.4(RNASEL):c.1287_1288insA (p.Leu430fs)
|
rs2102370108
|
|
|
NM_021133.4(RNASEL):c.1289T>A (p.Leu430Ter)
|
rs2102370104
|
|
|
NM_021133.4(RNASEL):c.1289T>C (p.Leu430Ser)
|
rs2102370104
|
|
|
NM_021133.4(RNASEL):c.1293dup (p.Val432fs)
|
rs2102370096
|
|
|
NM_021133.4(RNASEL):c.1300del (p.Val434fs)
|
rs2102370082
|
|
|
NM_021133.4(RNASEL):c.1303A>C (p.Thr435Pro)
|
rs2102370075
|
|
|
NM_021133.4(RNASEL):c.1305C>T (p.Thr435=)
|
rs2102370068
|
|
|
NM_021133.4(RNASEL):c.1311del (p.Cys437fs)
|
rs2102370054
|
|
|
NM_021133.4(RNASEL):c.1311dup (p.Glu438Ter)
|
rs2102370050
|
|
|
NM_021133.4(RNASEL):c.1322del (p.Leu441fs)
|
rs2102370008
|
|
|
NM_021133.4(RNASEL):c.1343dup (p.His448fs)
|
rs2102369976
|
|
|
NM_021133.4(RNASEL):c.1351del (p.Glu451fs)
|
rs2102369965
|
|
|
NM_021133.4(RNASEL):c.1358del (p.Val453fs)
|
rs2102369958
|
|
|
NM_021133.4(RNASEL):c.1360del (p.Glu454fs)
|
rs2102369955
|
|
|
NM_021133.4(RNASEL):c.1364dup (p.Asn455fs)
|
rs2102369947
|
|
|
NM_021133.4(RNASEL):c.1368G>T (p.Glu456Asp)
|
rs2102369941
|
|
|
NM_021133.4(RNASEL):c.1369del (p.Glu457fs)
|
rs2102369939
|
|
|
NM_021133.4(RNASEL):c.1380del (p.Phe460fs)
|
rs2102369911
|
|
|
NM_021133.4(RNASEL):c.1385del (p.Arg462fs)
|
rs2102369892
|
|
|
NM_021133.4(RNASEL):c.1388A>G (p.Asn463Ser)
|
rs2102369881
|
|
|
NM_021133.4(RNASEL):c.1393C>A (p.Leu465Met)
|
rs2102369874
|
|
|
NM_021133.4(RNASEL):c.1395del (p.Ser466fs)
|
rs2102369871
|
|
|
NM_021133.4(RNASEL):c.1399_1400insA (p.Ser467fs)
|
rs2102369865
|
|
|
NM_021133.4(RNASEL):c.1400dup (p.Ile468fs)
|
rs2102369862
|
|
|
NM_021133.4(RNASEL):c.1403del (p.Ile468fs)
|
rs2102369853
|
|
|
NM_021133.4(RNASEL):c.1405T>A (p.Phe469Ile)
|
rs1196436666
|
|
|
NM_021133.4(RNASEL):c.1407T>A (p.Phe469Leu)
|
rs1364210034
|
|
|
NM_021133.4(RNASEL):c.1407del (p.Phe469fs)
|
rs2102369842
|
|
|
NM_021133.4(RNASEL):c.1409A>C (p.Lys470Thr)
|
rs2102369835
|
|
|
NM_021133.4(RNASEL):c.1411del (p.Ala471fs)
|
rs2102369827
|
|
|
NM_021133.4(RNASEL):c.1412C>T (p.Ala471Val)
|
rs2102369822
|
|
|
NM_021133.4(RNASEL):c.1413del (p.Val472fs)
|
rs2102369818
|
|
|
NM_021133.4(RNASEL):c.1414_1415del (p.Val472fs)
|
rs2102369813
|
|
|
NM_021133.4(RNASEL):c.1416T>C (p.Val472=)
|
rs2102369809
|
|
|
NM_021133.4(RNASEL):c.1418A>C (p.Gln473Pro)
|
rs1661571994
|
|
|
NM_021133.4(RNASEL):c.1422A>T (p.Glu474Asp)
|
rs2102369798
|
|
|
NM_021133.4(RNASEL):c.1429T>A (p.Leu477Met)
|
rs2102369789
|
|
|
NM_021133.4(RNASEL):c.1430del (p.Leu477fs)
|
rs2102369783
|
|
|
NM_021133.4(RNASEL):c.1481-1G>T
|
|
|
|
NM_021133.4(RNASEL):c.1591G>A (p.Val531Met)
|
|
|
|
NM_021133.4(RNASEL):c.2039+1del
|
|
|
|
NM_021133.4(RNASEL):c.526G>A (p.Ala176Thr)
|
|
|
|
NM_021163.4(RBAK):c.1602A>T (p.Lys534Asn)
|
rs193921102
|
|
|
NM_021229.4(NTN4):c.823C>T (p.His275Tyr)
|
rs193920922
|
|
|
NM_021616.6(TRIM34):c.-5G>A
|
rs193920907
|
|
|
NM_021815.5(SLC5A7):c.1175C>T (p.Ala392Val)
|
rs193921021
|
|
|
NM_021819.3(LMAN1L):c.1338G>T (p.Lys446Asn)
|
rs193921107
|
|
|
NM_021955.5(GNGT1):c.96+1G>A
|
rs193921133
|
|
|
NM_022045.5(MTBP):c.2380A>G (p.Ile794Val)
|
rs193921136
|
|
|
NM_022080.3(NAPB):c.786+2T>C
|
rs193921124
|
|
|
NM_022119.4(PRSS22):c.806G>A (p.Arg269His)
|
rs193920873
|
|
|
NM_022168.4(IFIH1):c.816A>C (p.Glu272Asp)
|
rs193920867
|
|
|
NM_022169.5(ABCG4):c.237G>T (p.Arg79Ser)
|
rs193920956
|
|
|
NM_022470.4(ZMAT3):c.182G>A (p.Cys61Tyr)
|
rs193920814
|
|
|
NM_022769.5(CRTC3):c.1387C>A (p.Arg463Ser)
|
rs193921108
|
|
|
NM_022828.5(YTHDC2):c.2617C>A (p.Pro873Thr)
|
rs193921121
|
|
|
NM_023015.5(INTS3):c.1700T>C (p.Ile567Thr)
|
rs193920901
|
|
|
NM_023078.6(PYCR3):c.16C>T (p.Pro6Ser)
|
rs193920765
|
|
|
NM_024111.6(CHAC1):c.279G>A (p.Trp93Ter)
|
rs193920914
|
|
|
NM_024603.4(BEND5):c.1210A>G (p.Ile404Val)
|
rs193921115
|
|
|
NM_024691.4(ZNF419):c.73G>T (p.Gly25Cys)
|
rs193920918
|
|
|
NM_024940.8(DOCK5):c.5125G>T (p.Ala1709Ser)
|
rs864622027
|
|
|
NM_025145.7(CFAP43):c.2051A>G (p.His684Arg)
|
rs193921081
|
|
|
NM_030569.7(ITIH5):c.2545G>T (p.Asp849Tyr)
|
rs193920741
|
|
|
NM_030780.5(SLC25A32):c.548A>G (p.Tyr183Cys)
|
rs864622028
|
|
|
NM_030933.4(SHCBP1L):c.881C>A (p.Thr294Lys)
|
rs193921086
|
|
|
NM_031490.5(LONP2):c.471G>T (p.Leu157Phe)
|
rs193920895
|
|
|
NM_031935.3(HMCN1):c.16792C>T (p.Arg5598Ter)
|
rs193921043
|
|
|
NM_032236.8(USP48):c.1243A>G (p.Met415Val)
|
rs193921025
|
|
|
NM_032511.4(FAXC):c.892C>G (p.Gln298Glu)
|
rs193921041
|
|
|
NM_032932.6(RAB11FIP4):c.1901A>T (p.Glu634Val)
|
rs193921026
|
|
|
NM_033116.6(NEK9):c.1756dup (p.Thr586fs)
|
rs193920844
|
|
|
NM_033255.5(EPSTI1):c.350C>T (p.Thr117Ile)
|
rs864622031
|
|
|
NM_033257.4(DGCR6L):c.608C>T (p.Pro203Leu)
|
rs193920891
|
|
|
NM_033360.4(KRAS):c.-11delG
|
|
|
|
NM_033439.4(IL33):c.712G>A (p.Val238Met)
|
rs193920852
|
|
|
NM_052909.5(PLEKHG4B):c.2311C>T (p.Arg771Trp)
|
rs193920840
|
|
|
NM_053025.4(MYLK):c.1148C>T (p.Pro383Leu)
|
rs193921083
|
|
|
NM_058192.3(RPUSD1):c.521A>G (p.His174Arg)
|
rs193920771
|
|
|
NM_080817.5(GPR82):c.482G>T (p.Gly161Val)
|
rs193921104
|
|
|
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
|
|
|
NM_138391.6(TMEM183A):c.708+1G>A
|
rs193920903
|
|
|
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter)
|
rs41341748
|
|
|
NM_138982.4(MAPK10):c.1271G>A (p.Ser424Asn)
|
rs193921096
|
|
|
NM_144587.5(BTBD16):c.82C>T (p.Pro28Ser)
|
rs193920863
|
|
|
NM_145263.4(SPATA18):c.991G>A (p.Val331Ile)
|
rs193921037
|
|
|
NM_147164.3(CNTFR):c.700G>C (p.Asp234His)
|
rs193920748
|
|
|
NM_152453.4(TMCO5A):c.645G>C (p.Lys215Asn)
|
rs193920912
|
|
|
NM_152476.3(ZNF560):c.1096C>A (p.His366Asn)
|
rs193920939
|
|
|
NM_152744.4(SDK1):c.5214+8C>T
|
rs193920905
|
|
|
NM_152753.4(SCUBE3):c.2462C>T (p.Pro821Leu)
|
rs193920941
|
|
|
NM_152868.3(KCNJ4):c.586C>T (p.Arg196Cys)
|
rs193920820
|
|
|
NM_152890.7(COL24A1):c.2341C>T (p.Gln781Ter)
|
rs774125436
|
|
|
NM_153267.5(MAMDC2):c.58G>A (p.Asp20Asn)
|
rs193920950
|
|
|
NM_153442.4(GPR26):c.71C>T (p.Ala24Val)
|
rs193920957
|
|
|
NM_153703.5(PODN):c.1060G>T (p.Ala354Ser)
|
rs193920794
|
|
|
NM_153766.3(KCNJ1):c.1094A>T (p.Asn365Ile)
|
rs193920958
|
|
|
NM_170692.4(RASAL2):c.3820G>T (p.Glu1274Ter)
|
rs193921085
|
|
|
NM_173079.5(RUNDC1):c.866G>C (p.Gly289Ala)
|
rs864622034
|
|
|
NM_173517.6(VKORC1L1):c.493G>T (p.Glu165Ter)
|
rs193921078
|
|
|
NM_173531.4(ZNF100):c.407del (p.Gly136fs)
|
rs193921016
|
|
|
NM_173536.4(GABRG1):c.32C>T (p.Pro11Leu)
|
rs193920916
|
|
|
NM_173550.4(CCDC171):c.2404C>T (p.Arg802Trp)
|
rs193920965
|
|
|
NM_173558.4(FGD2):c.882+3A>C
|
rs193921018
|
|
|
NM_173632.4(ZNF776):c.574A>C (p.Asn192His)
|
rs193921007
|
|
|
NM_175709.5(CBX7):c.227C>G (p.Pro76Arg)
|
rs193920857
|
|
|
NM_178150.3(FBH1):c.2107C>T (p.Arg703Trp)
|
rs193921138
|
|
|
NM_178556.5(TRIML1):c.1188A>T (p.Lys396Asn)
|
rs193920871
|
|
|
NM_181523.3(PIK3R1):c.1939C>A (p.Leu647Ile)
|
rs193921079
|
|
|
NM_181785.4(SLC46A3):c.1189G>A (p.Val397Ile)
|
rs193920747
|
|
|
NM_181877.4(ZSCAN2):c.1255C>A (p.Gln419Lys)
|
rs193921069
|
|
|
NM_182947.4(ARHGEF25):c.657-7C>A
|
rs193921117
|
|
|
NM_183377.2(ASIC2):c.1129C>A (p.His377Asn)
|
rs193921140
|
|
|
NM_194302.4(CFAP65):c.542+58del
|
rs193920770
|
|
|
NM_198215.4(FAM13C):c.1427T>A (p.Leu476His)
|
rs193920897
|
|
|
NM_198512.3(DGAT2L6):c.769C>A (p.Leu257Met)
|
rs193921067
|
|
|
NM_199191.3(BABAM2):c.626A>G (p.Asp209Gly)
|
rs193920803
|
|
|
NM_199340.5(LRRC37A3):c.3859del (p.Ala1287fs)
|
rs193920919
|
|
|
NM_206933.4(USH2A):c.5837G>T (p.Arg1946Leu)
|
rs193921072
|
|
|
NM_207117.4(SLC25A47):c.56C>T (p.Pro19Leu)
|
rs193920797
|
|
|
NM_213589.3(RAPH1):c.1123G>T (p.Glu375Ter)
|
rs193920935
|
|