|
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln)
|
rs150712805
|
0.00119
|
|
NM_001271938.2(MEGF8):c.7774G>A (p.Val2592Met)
|
rs148860986
|
0.00105
|
|
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His)
|
rs138225703
|
0.00086
|
|
NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp)
|
rs141383715
|
0.00084
|
|
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)
|
rs147523071
|
0.00071
|
|
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)
|
rs142906652
|
0.00071
|
|
NM_005236.3(ERCC4):c.532G>T (p.Val178Leu)
|
rs149927607
|
0.00070
|
|
NM_001278689.2(EOGT):c.1575T>G (p.Asp525Glu)
|
rs140481649
|
0.00067
|
|
NM_001271938.2(MEGF8):c.919G>A (p.Val307Met)
|
rs201180083
|
0.00063
|
|
NM_021922.3(FANCE):c.229C>A (p.Pro77Thr)
|
rs587778335
|
0.00061
|
|
NM_020937.4(FANCM):c.5141C>T (p.Ala1714Val)
|
rs139383231
|
0.00058
|
|
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)
|
rs61760160
|
0.00056
|
|
NM_001271938.2(MEGF8):c.7048G>A (p.Val2350Met)
|
rs73033442
|
0.00055
|
|
NM_147127.5(EVC2):c.2060G>A (p.Arg687His)
|
rs144420242
|
0.00054
|
|
NM_020937.4(FANCM):c.2173A>G (p.Thr725Ala)
|
rs146325649
|
0.00053
|
|
NM_020937.4(FANCM):c.2297A>G (p.Glu766Gly)
|
rs139946652
|
0.00053
|
|
NM_013352.4(DSE):c.2687T>G (p.Leu896Arg)
|
rs149649831
|
0.00052
|
|
NM_020436.5(SALL4):c.541G>A (p.Val181Met)
|
rs139382539
|
0.00052
|
|
NM_020937.4(FANCM):c.5020A>G (p.Ser1674Gly)
|
rs140499872
|
0.00052
|
|
NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly)
|
rs61744917
|
0.00051
|
|
NM_004629.2(FANCG):c.478G>A (p.Ala160Thr)
|
rs140534765
|
0.00051
|
|
NM_022725.4(FANCF):c.385C>G (p.Leu129Val)
|
rs61753271
|
0.00051
|
|
NM_014918.5(CHSY1):c.698G>A (p.Arg233Gln)
|
rs146924321
|
0.00049
|
|
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met)
|
rs144008013
|
0.00049
|
|
NM_001018115.3(FANCD2):c.1920A>C (p.Gln640His)
|
rs140452766
|
0.00048
|
|
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser)
|
rs145057187
|
0.00048
|
|
NM_032444.4(SLX4):c.2249C>T (p.Thr750Met)
|
rs145353518
|
0.00046
|
|
NM_147127.5(EVC2):c.1505T>G (p.Leu502Arg)
|
rs145909403
|
0.00046
|
|
NM_002334.4(LRP4):c.5182A>G (p.Ile1728Val)
|
rs148865136
|
0.00045
|
|
NM_022725.4(FANCF):c.633G>T (p.Gln211His)
|
rs146975768
|
0.00045
|
|
NM_032444.4(SLX4):c.1584C>G (p.Ser528Arg)
|
rs139865448
|
0.00045
|
|
NM_020937.4(FANCM):c.2996C>T (p.Pro999Leu)
|
rs148304968
|
0.00044
|
|
NM_032444.4(SLX4):c.4658A>T (p.Asn1553Ile)
|
rs150460384
|
0.00044
|
|
NM_001113378.2(FANCI):c.2326A>G (p.Met776Val)
|
rs150544323
|
0.00043
|
|
NM_032444.4(SLX4):c.4099G>A (p.Ala1367Thr)
|
rs17136464
|
0.00043
|
|
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys)
|
rs201733876
|
0.00042
|
|
NM_002334.4(LRP4):c.3407G>A (p.Arg1136Gln)
|
rs61736853
|
0.00042
|
|
NM_002334.4(LRP4):c.4699A>T (p.Arg1567Trp)
|
rs199747378
|
0.00041
|
|
NM_002334.4(LRP4):c.5558G>A (p.Ser1853Asn)
|
rs139535571
|
0.00041
|
|
NM_020937.4(FANCM):c.874C>G (p.Pro292Ala)
|
rs142747831
|
0.00041
|
|
NM_022725.4(FANCF):c.728G>A (p.Gly243Glu)
|
rs150216454
|
0.00041
|
|
NM_000474.4(TWIST1):c.277A>G (p.Ser93Gly)
|
rs925811677
|
0.00039
|
|
NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg)
|
rs151116615
|
0.00039
|
|
NM_022725.4(FANCF):c.637C>T (p.Pro213Ser)
|
rs201382399
|
0.00039
|
|
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser)
|
rs56394801
|
0.00038
|
|
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu)
|
rs138663330
|
0.00038
|
|
NM_002334.4(LRP4):c.4936C>T (p.Arg1646Trp)
|
rs141213903
|
0.00038
|
|
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys)
|
rs144614070
|
0.00038
|
|
NM_173660.5(DOK7):c.577A>G (p.Ser193Gly)
|
rs139133047
|
0.00038
|
|
NM_002334.4(LRP4):c.1832G>A (p.Arg611His)
|
rs140282454
|
0.00036
|
|
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp)
|
rs201926295
|
0.00036
|
|
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu)
|
rs147492092
|
0.00036
|
|
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly)
|
rs145137472
|
0.00036
|
|
NM_032444.4(SLX4):c.3671A>T (p.Glu1224Val)
|
rs566584111
|
0.00036
|
|
NM_153717.3(EVC):c.1321G>A (p.Val441Ile)
|
rs202150959
|
0.00036
|
|
NM_173660.5(DOK7):c.1225C>T (p.Arg409Cys)
|
rs199606134
|
0.00036
|
|
NM_000751.3(CHRND):c.1066C>T (p.Pro356Ser)
|
rs147050939
|
0.00035
|
|
NM_147127.5(EVC2):c.2591G>A (p.Arg864Lys)
|
rs369531662
|
0.00035
|
|
NM_006265.3(RAD21):c.1352T>G (p.Leu451Arg)
|
rs144953114
|
0.00034
|
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
|
NM_022725.4(FANCF):c.91G>A (p.Val31Met)
|
rs11556562
|
0.00034
|
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
|
NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser)
|
rs138484365
|
0.00034
|
|
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val)
|
rs141591400
|
0.00033
|
|
NM_000751.3(CHRND):c.619+4C>A
|
rs367936158
|
0.00032
|
|
NM_001999.4(FBN2):c.7012+6C>T
|
rs749376421
|
0.00032
|
|
NM_005445.4(SMC3):c.3259G>A (p.Val1087Ile)
|
rs147743879
|
0.00032
|
|
NM_020937.4(FANCM):c.269C>T (p.Pro90Leu)
|
rs142904668
|
0.00032
|
|
NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg)
|
rs45524646
|
0.00032
|
|
NM_001113378.2(FANCI):c.406G>A (p.Ala136Thr)
|
rs139181400
|
0.00031
|
|
NM_001271938.2(MEGF8):c.4264G>A (p.Val1422Met)
|
rs141221243
|
0.00031
|
|
NM_001278689.2(EOGT):c.50G>A (p.Ser17Asn)
|
rs139168099
|
0.00031
|
|
NM_001346754.2(PIGW):c.106A>G (p.Arg36Gly)
|
rs142067039
|
0.00031
|
|
NM_004629.2(FANCG):c.794C>T (p.Ala265Val)
|
rs764992007
|
0.00031
|
|
NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr)
|
rs144647122
|
0.00031
|
|
NM_000751.3(CHRND):c.1067C>T (p.Pro356Leu)
|
rs200671975
|
0.00030
|
|
NM_020436.5(SALL4):c.3103G>A (p.Gly1035Ser)
|
rs76648342
|
0.00030
|
|
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln)
|
rs143558209
|
0.00030
|
|
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu)
|
rs61751578
|
0.00029
|
|
NM_001271938.2(MEGF8):c.1024G>A (p.Val342Met)
|
rs372990477
|
0.00029
|
|
NM_001271938.2(MEGF8):c.5018A>G (p.Tyr1673Cys)
|
rs143215498
|
0.00029
|
|
NM_020937.4(FANCM):c.1597C>T (p.Arg533Cys)
|
rs146151355
|
0.00029
|
|
NM_032043.3(BRIP1):c.173G>A (p.Cys58Tyr)
|
rs749920386
|
0.00029
|
|
NM_032444.4(SLX4):c.2210G>A (p.Arg737His)
|
rs146901714
|
0.00029
|
|
NM_032634.4(PIGO):c.2197C>T (p.Arg733Trp)
|
rs748093757
|
0.00029
|
|
NM_173660.5(DOK7):c.1425G>T (p.Trp475Cys)
|
rs777626370
|
0.00029
|
|
NM_021922.3(FANCE):c.31G>A (p.Ala11Thr)
|
rs753304968
|
0.00028
|
|
NM_147127.5(EVC2):c.2416G>A (p.Val806Met)
|
rs138128087
|
0.00028
|
|
NM_014918.5(CHSY1):c.1328A>G (p.Tyr443Cys)
|
rs75034086
|
0.00027
|
|
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys)
|
rs200360968
|
0.00027
|
|
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)
|
rs367610893
|
0.00027
|
|
NM_000079.4(CHRNA1):c.1247C>T (p.Ala416Val)
|
rs367751078
|
0.00026
|
|
NM_001018115.3(FANCD2):c.1015G>A (p.Gly339Ser)
|
rs144332316
|
0.00026
|
|
NM_014918.5(CHSY1):c.479A>T (p.Tyr160Phe)
|
rs778545156
|
0.00026
|
|
NM_020937.4(FANCM):c.163G>A (p.Asp55Asn)
|
rs148017562
|
0.00026
|
|
NM_020937.4(FANCM):c.3235A>T (p.Ser1079Cys)
|
rs146065064
|
0.00026
|
|
NM_021922.3(FANCE):c.206G>A (p.Arg69Gln)
|
rs758238449
|
0.00026
|
|
NM_173660.5(DOK7):c.32T>C (p.Val11Ala)
|
rs375168516
|
0.00026
|
|
NM_000751.3(CHRND):c.805T>C (p.Tyr269His)
|
rs141627135
|
0.00025
|
|
NM_001271938.2(MEGF8):c.3428C>T (p.Ser1143Leu)
|
rs368693886
|
0.00025
|
|
NM_002334.4(LRP4):c.505G>A (p.Gly169Ser)
|
rs201585639
|
0.00025
|
|
NM_020937.4(FANCM):c.1249G>C (p.Glu417Gln)
|
rs141729590
|
0.00025
|
|
NM_021922.3(FANCE):c.53C>T (p.Pro18Leu)
|
rs991748781
|
0.00025
|
|
NM_032444.4(SLX4):c.5212G>T (p.Gly1738Trp)
|
rs556217576
|
0.00025
|
|
NM_032634.4(PIGO):c.2705C>G (p.Thr902Ser)
|
rs372802683
|
0.00025
|
|
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)
|
rs185057307
|
0.00025
|
|
NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met)
|
rs372574627
|
0.00024
|
|
NM_001271938.2(MEGF8):c.262G>A (p.Val88Met)
|
rs372955721
|
0.00024
|
|
NM_001374353.1(GLI2):c.392G>A (p.Arg131His)
|
rs149180414
|
0.00024
|
|
NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg)
|
rs139006210
|
0.00024
|
|
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys)
|
rs148933357
|
0.00024
|
|
NM_013352.4(DSE):c.35T>A (p.Phe12Tyr)
|
rs142885560
|
0.00024
|
|
NM_020937.4(FANCM):c.4106A>T (p.Asn1369Ile)
|
rs148154311
|
0.00024
|
|
NM_022725.4(FANCF):c.153T>A (p.His51Gln)
|
rs142247452
|
0.00024
|
|
NM_022725.4(FANCF):c.573C>G (p.Ser191Arg)
|
rs146219377
|
0.00024
|
|
NM_032444.4(SLX4):c.1394C>T (p.Pro465Leu)
|
rs372128800
|
0.00024
|
|
NM_032634.4(PIGO):c.794G>A (p.Arg265His)
|
rs200924324
|
0.00024
|
|
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr)
|
rs149537641
|
0.00024
|
|
NM_153717.3(EVC):c.2519C>T (p.Thr840Met)
|
rs143464806
|
0.00024
|
|
NM_005592.4(MUSK):c.1099C>T (p.Arg367Trp)
|
rs201014623
|
0.00023
|
|
NM_020436.5(SALL4):c.2260G>A (p.Val754Met)
|
rs199607966
|
0.00023
|
|
NM_004629.2(FANCG):c.1453C>T (p.Arg485Trp)
|
rs201884798
|
0.00022
|
|
NM_022725.4(FANCF):c.647G>C (p.Arg216Pro)
|
rs192534185
|
0.00022
|
|
NM_147127.5(EVC2):c.3218T>C (p.Val1073Ala)
|
rs149527560
|
0.00022
|
|
NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met)
|
rs375566943
|
0.00022
|
|
NM_013352.4(DSE):c.2129C>T (p.Ala710Val)
|
rs533772643
|
0.00021
|
|
NM_013352.4(DSE):c.2761A>G (p.Thr921Ala)
|
rs143226402
|
0.00021
|
|
NM_014918.5(CHSY1):c.2335G>A (p.Glu779Lys)
|
rs370264590
|
0.00021
|
|
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del)
|
rs587778559
|
0.00021
|
|
NM_021922.3(FANCE):c.65T>C (p.Leu22Pro)
|
rs950301098
|
0.00021
|
|
NM_147127.5(EVC2):c.2668G>A (p.Val890Met)
|
rs371698182
|
0.00021
|
|
NM_000079.4(CHRNA1):c.805G>C (p.Val269Leu)
|
rs137852803
|
0.00020
|
|
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu)
|
rs147873714
|
0.00020
|
|
NM_001113378.2(FANCI):c.1699-3C>G
|
rs372441627
|
0.00020
|
|
NM_001346754.2(PIGW):c.1241T>C (p.Ile414Thr)
|
rs201893415
|
0.00020
|
|
NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu)
|
rs145422541
|
0.00020
|
|
NM_003334.4(UBA1):c.1049G>A (p.Arg350His)
|
rs5906354
|
0.00020
|
|
NM_006147.4(IRF6):c.1060G>A (p.Asp354Asn)
|
rs200808685
|
0.00020
|
|
NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe)
|
rs139536545
|
0.00020
|
|
NM_020937.4(FANCM):c.504G>C (p.Met168Ile)
|
rs376316183
|
0.00020
|
|
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu)
|
rs139547269
|
0.00020
|
|
NM_032634.4(PIGO):c.3103C>T (p.Arg1035Cys)
|
rs376829041
|
0.00020
|
|
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)
|
rs143152201
|
0.00019
|
|
NM_001018115.3(FANCD2):c.122T>C (p.Val41Ala)
|
rs139025231
|
0.00019
|
|
NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile)
|
rs199726965
|
0.00019
|
|
NM_001113378.2(FANCI):c.2041A>C (p.Thr681Pro)
|
rs554876309
|
0.00019
|
|
NM_001113378.2(FANCI):c.3419C>T (p.Thr1140Ile)
|
rs142969866
|
0.00019
|
|
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr)
|
rs112387610
|
0.00019
|
|
NM_001271938.2(MEGF8):c.4011G>A (p.Thr1337=)
|
rs149716961
|
0.00019
|
|
NM_001271938.2(MEGF8):c.6765C>T (p.Cys2255=)
|
rs145630132
|
0.00019
|
|
NM_002334.4(LRP4):c.539A>G (p.Glu180Gly)
|
rs201957426
|
0.00019
|
|
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp)
|
rs200649435
|
0.00019
|
|
NM_012243.3(SLC35A3):c.599C>G (p.Thr200Arg)
|
rs759966591
|
0.00019
|
|
NM_021922.3(FANCE):c.1591T>A (p.Leu531Met)
|
rs147390386
|
0.00019
|
|
NM_032444.4(SLX4):c.1499C>T (p.Thr500Met)
|
rs377440877
|
0.00019
|
|
NM_032444.4(SLX4):c.1829A>G (p.Gln610Arg)
|
rs544935776
|
0.00019
|
|
NM_032444.4(SLX4):c.5264C>T (p.Ala1755Val)
|
rs372921011
|
0.00019
|
|
NM_130468.4(CHST14):c.20C>A (p.Thr7Asn)
|
rs766643057
|
0.00019
|
|
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln)
|
rs149629686
|
0.00019
|
|
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro)
|
rs148407223
|
0.00019
|
|
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr)
|
rs140357734
|
0.00018
|
|
NM_003334.4(UBA1):c.2878G>T (p.Val960Leu)
|
rs186224021
|
0.00018
|
|
NM_018062.4(FANCL):c.142C>G (p.Leu48Val)
|
rs148516173
|
0.00018
|
|
NM_018062.4(FANCL):c.580A>G (p.Ile194Val)
|
rs542006141
|
0.00018
|
|
NM_032444.4(SLX4):c.4580C>T (p.Pro1527Leu)
|
rs149362820
|
0.00018
|
|
NM_002334.4(LRP4):c.2992C>T (p.Arg998Cys)
|
rs61749460
|
0.00017
|
|
NM_003289.4(TPM2):c.536C>T (p.Ser179Leu)
|
rs150120234
|
0.00017
|
|
NM_003334.4(UBA1):c.904A>G (p.Ser302Gly)
|
rs200541240
|
0.00017
|
|
NM_014918.5(CHSY1):c.1600A>T (p.Ile534Leu)
|
rs141305214
|
0.00017
|
|
NM_014918.5(CHSY1):c.1772G>A (p.Arg591His)
|
rs148790468
|
0.00017
|
|
NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe)
|
rs138274490
|
0.00017
|
|
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val)
|
rs146436929
|
0.00017
|
|
NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe)
|
rs952309844
|
0.00017
|
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
|
NM_032444.4(SLX4):c.537G>T (p.Glu179Asp)
|
rs758789462
|
0.00017
|
|
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys)
|
rs140804406
|
0.00017
|
|
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)
|
rs143026267
|
0.00017
|
|
NM_147127.5(EVC2):c.1003C>T (p.Arg335Trp)
|
rs148884226
|
0.00017
|
|
NM_173660.5(DOK7):c.1090C>T (p.Arg364Trp)
|
rs577156980
|
0.00017
|
|
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu)
|
rs372534421
|
0.00016
|
|
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val)
|
rs145129959
|
0.00016
|
|
NM_001018115.3(FANCD2):c.2555C>G (p.Pro852Arg)
|
rs375827113
|
0.00016
|
|
NM_001018115.3(FANCD2):c.2801C>G (p.Ser934Cys)
|
rs200971205
|
0.00016
|
|
NM_001113378.2(FANCI):c.1264G>A (p.Gly422Arg)
|
rs146040966
|
0.00016
|
|
NM_001113378.2(FANCI):c.1657C>A (p.Leu553Met)
|
rs374363189
|
0.00016
|
|
NM_001113378.2(FANCI):c.2543A>G (p.Gln848Arg)
|
rs555904350
|
0.00016
|
|
NM_001271938.2(MEGF8):c.1877G>A (p.Arg626Gln)
|
rs773886995
|
0.00016
|
|
NM_001271938.2(MEGF8):c.3461C>T (p.Pro1154Leu)
|
rs562936594
|
0.00016
|
|
NM_001271938.2(MEGF8):c.6934A>G (p.Ile2312Val)
|
rs142042363
|
0.00016
|
|
NM_001346754.2(PIGW):c.1478T>C (p.Val493Ala)
|
rs144246473
|
0.00016
|
|
NM_001374353.1(GLI2):c.2191G>A (p.Gly731Arg)
|
rs146944207
|
0.00016
|
|
NM_001374353.1(GLI2):c.221A>G (p.His74Arg)
|
rs377700501
|
0.00016
|
|
NM_002334.4(LRP4):c.695G>A (p.Arg232His)
|
rs370407081
|
0.00016
|
|
NM_016277.5(RAB23):c.346A>G (p.Thr116Ala)
|
rs138803099
|
0.00016
|
|
NM_020937.4(FANCM):c.2003-3T>C
|
rs777799598
|
0.00016
|
|
NM_020937.4(FANCM):c.2518G>A (p.Val840Ile)
|
rs374402732
|
0.00016
|
|
NM_021922.3(FANCE):c.1069C>T (p.Leu357Phe)
|
rs185230199
|
0.00016
|
|
NM_032444.4(SLX4):c.3758C>T (p.Thr1253Ile)
|
rs202148391
|
0.00016
|
|
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys)
|
rs142040192
|
0.00016
|
|
NM_032444.4(SLX4):c.4033C>T (p.Arg1345Cys)
|
rs200310925
|
0.00016
|
|
NM_032444.4(SLX4):c.4649G>A (p.Arg1550Gln)
|
rs369852048
|
0.00016
|
|
NM_032444.4(SLX4):c.653G>C (p.Arg218Thr)
|
rs756079504
|
0.00016
|
|
NM_032634.4(PIGO):c.1132C>T (p.Leu378Phe)
|
rs746870615
|
0.00016
|
|
NM_133433.4(NIPBL):c.1210C>T (p.Pro404Ser)
|
rs560785308
|
0.00016
|
|
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr)
|
rs201201603
|
0.00016
|
|
NM_000135.4(FANCA):c.79+10C>T
|
rs573174362
|
0.00015
|
|
NM_001018115.3(FANCD2):c.808T>G (p.Leu270Val)
|
rs138587722
|
0.00015
|
|
NM_001271938.2(MEGF8):c.351+4A>G
|
rs753271808
|
0.00015
|
|
NM_001374353.1(GLI2):c.4094G>A (p.Arg1365His)
|
rs200080112
|
0.00015
|
|
NM_014918.5(CHSY1):c.209T>G (p.Leu70Arg)
|
rs745978128
|
0.00015
|
|
NM_020937.4(FANCM):c.3992C>T (p.Pro1331Leu)
|
rs149348098
|
0.00015
|
|
NM_020937.4(FANCM):c.5284C>A (p.Pro1762Thr)
|
rs376197752
|
0.00015
|
|
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu)
|
rs138618354
|
0.00015
|
|
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr)
|
rs147054690
|
0.00015
|
|
NM_000079.4(CHRNA1):c.547G>A (p.Asp183Asn)
|
rs145421881
|
0.00014
|
|
NM_000751.3(CHRND):c.89G>A (p.Arg30Gln)
|
rs142992853
|
0.00014
|
|
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr)
|
rs146496253
|
0.00014
|
|
NM_001271938.2(MEGF8):c.3451G>A (p.Ala1151Thr)
|
rs373631162
|
0.00014
|
|
NM_001271938.2(MEGF8):c.6335G>A (p.Arg2112Gln)
|
rs139601509
|
0.00014
|
|
NM_001374353.1(GLI2):c.4392C>G (p.Asp1464Glu)
|
rs201051196
|
0.00014
|
|
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met)
|
rs202219940
|
0.00014
|
|
NM_002334.4(LRP4):c.1700C>T (p.Thr567Ile)
|
rs143885233
|
0.00014
|
|
NM_002334.4(LRP4):c.4594G>C (p.Val1532Leu)
|
rs147609642
|
0.00014
|
|
NM_002334.4(LRP4):c.605G>A (p.Arg202His)
|
rs149056824
|
0.00014
|
|
NM_004380.3(CREBBP):c.3611A>T (p.Tyr1204Phe)
|
rs200346970
|
0.00014
|
|
NM_005592.4(MUSK):c.680C>A (p.Ser227Tyr)
|
rs374657556
|
0.00014
|
|
NM_014918.5(CHSY1):c.730C>T (p.Arg244Trp)
|
rs74040399
|
0.00014
|
|
NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys)
|
rs202171930
|
0.00014
|
|
NM_020937.4(FANCM):c.291C>G (p.His97Gln)
|
rs369609574
|
0.00014
|
|
NM_020937.4(FANCM):c.4959G>A (p.Met1653Ile)
|
rs143152888
|
0.00014
|
|
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys)
|
rs371020401
|
0.00014
|
|
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg)
|
rs200482627
|
0.00014
|
|
NM_032444.4(SLX4):c.4868C>T (p.Ala1623Val)
|
rs200178217
|
0.00014
|
|
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp)
|
rs141597706
|
0.00014
|
|
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)
|
rs149331537
|
0.00014
|
|
NM_153717.3(EVC):c.1777G>A (p.Val593Met)
|
rs150535483
|
0.00014
|
|
NM_000079.4(CHRNA1):c.1333G>A (p.Val445Met)
|
rs372104868
|
0.00013
|
|
NM_000751.3(CHRND):c.305G>A (p.Arg102His)
|
rs147919651
|
0.00013
|
|
NM_001018115.3(FANCD2):c.2976+6T>C
|
rs201875004
|
0.00013
|
|
NM_001113378.2(FANCI):c.3677C>T (p.Thr1226Met)
|
rs367665900
|
0.00013
|
|
NM_001374353.1(GLI2):c.4147G>T (p.Gly1383Cys)
|
rs143914758
|
0.00013
|
|
NM_002334.4(LRP4):c.1769G>A (p.Arg590His)
|
rs149435615
|
0.00013
|
|
NM_004629.2(FANCG):c.1367A>T (p.His456Leu)
|
rs148808709
|
0.00013
|
|
NM_005236.3(ERCC4):c.1633G>A (p.Gly545Arg)
|
rs773007457
|
0.00013
|
|
NM_005445.4(SMC3):c.2062G>C (p.Glu688Gln)
|
rs201162818
|
0.00013
|
|
NM_016277.5(RAB23):c.25G>A (p.Ala9Thr)
|
rs150655349
|
0.00013
|
|
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg)
|
rs201662530
|
0.00013
|
|
NM_020937.4(FANCM):c.2473A>C (p.Ser825Arg)
|
rs547223696
|
0.00013
|
|
NM_020937.4(FANCM):c.4187C>T (p.Pro1396Leu)
|
rs762637141
|
0.00013
|
|
NM_020937.4(FANCM):c.5440G>A (p.Glu1814Lys)
|
rs139074680
|
0.00013
|
|
NM_021922.3(FANCE):c.653A>G (p.Lys218Arg)
|
rs148638909
|
0.00013
|
|
NM_032634.4(PIGO):c.1309G>A (p.Ala437Thr)
|
rs371896003
|
0.00013
|
|
NM_032634.4(PIGO):c.1891T>G (p.Cys631Gly)
|
rs371800398
|
0.00013
|
|
NM_032634.4(PIGO):c.2188C>G (p.Pro730Ala)
|
rs747418653
|
0.00013
|
|
NM_032634.4(PIGO):c.253C>A (p.Pro85Thr)
|
rs745754359
|
0.00013
|
|
NM_032634.4(PIGO):c.676G>A (p.Val226Met)
|
rs767554501
|
0.00013
|
|
NM_130468.4(CHST14):c.398A>C (p.Gln133Pro)
|
rs866817984
|
0.00013
|
|
NM_130468.4(CHST14):c.796T>C (p.Tyr266His)
|
rs377155775
|
0.00013
|
|
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly)
|
rs370721640
|
0.00013
|
|
NM_153717.3(EVC):c.2449+4C>T
|
rs753679138
|
0.00013
|
|
NM_173660.5(DOK7):c.1346C>T (p.Thr449Met)
|
rs373864257
|
0.00013
|
|
NM_173660.5(DOK7):c.596T>G (p.Ile199Ser)
|
rs148650015
|
0.00013
|
|
NM_173660.5(DOK7):c.752C>T (p.Ala251Val)
|
rs376251309
|
0.00013
|
|
NM_000079.4(CHRNA1):c.320G>A (p.Arg107His)
|
rs376844505
|
0.00012
|
|
NM_000751.3(CHRND):c.626G>A (p.Gly209Glu)
|
rs754652646
|
0.00012
|
|
NM_001113378.2(FANCI):c.3473G>T (p.Cys1158Phe)
|
rs199502679
|
0.00012
|
|
NM_003334.4(UBA1):c.2842T>G (p.Tyr948Asp)
|
rs781929195
|
0.00012
|
|
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr)
|
rs375860375
|
0.00012
|
|
NM_020937.4(FANCM):c.4933C>T (p.Arg1645Cys)
|
rs186197572
|
0.00012
|
|
NM_020937.4(FANCM):c.538A>G (p.Ile180Val)
|
rs151248588
|
0.00012
|
|
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe)
|
rs201017015
|
0.00012
|
|
NM_020937.4(FANCM):c.934G>A (p.Ala312Thr)
|
rs189856413
|
0.00012
|
|
NM_021922.3(FANCE):c.926C>T (p.Pro309Leu)
|
rs151020666
|
0.00012
|
|
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His)
|
rs200894063
|
0.00012
|
|
NM_032444.4(SLX4):c.2620G>A (p.Gly874Ser)
|
rs113420526
|
0.00012
|
|
NM_032444.4(SLX4):c.398C>T (p.Pro133Leu)
|
rs373586019
|
0.00012
|
|
NM_032444.4(SLX4):c.4445G>A (p.Cys1482Tyr)
|
rs148856258
|
0.00012
|
|
NM_058216.3(RAD51C):c.200A>G (p.Glu67Gly)
|
rs375451955
|
0.00012
|
|
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp)
|
rs137852928
|
0.00012
|
|
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp)
|
rs587778309
|
0.00011
|
|
NM_000135.4(FANCA):c.2842G>C (p.Asp948His)
|
rs778254482
|
0.00011
|
|
NM_001018115.3(FANCD2):c.2765A>G (p.His922Arg)
|
rs1039845680
|
0.00011
|
|
NM_001271938.2(MEGF8):c.278C>G (p.Ser93Cys)
|
rs200910137
|
0.00011
|
|
NM_001271938.2(MEGF8):c.4733G>A (p.Arg1578His)
|
rs759275421
|
0.00011
|
|
NM_001271938.2(MEGF8):c.7742C>T (p.Thr2581Met)
|
rs760894129
|
0.00011
|
|
NM_001278689.2(EOGT):c.305T>C (p.Met102Thr)
|
rs201325214
|
0.00011
|
|
NM_001374353.1(GLI2):c.3434A>G (p.Lys1145Arg)
|
rs190017682
|
0.00011
|
|
NM_002334.4(LRP4):c.4274G>A (p.Arg1425Gln)
|
rs143444937
|
0.00011
|
|
NM_002334.4(LRP4):c.472G>A (p.Gly158Arg)
|
rs193247849
|
0.00011
|
|
NM_002334.4(LRP4):c.788G>A (p.Arg263His)
|
rs149906323
|
0.00011
|
|
NM_005236.3(ERCC4):c.1268A>G (p.Tyr423Cys)
|
rs143924094
|
0.00011
|
|
NM_005592.4(MUSK):c.1516A>G (p.Ile506Val)
|
rs191581729
|
0.00011
|
|
NM_013352.4(DSE):c.2168G>A (p.Arg723Gln)
|
rs371043332
|
0.00011
|
|
NM_013352.4(DSE):c.2842T>C (p.Trp948Arg)
|
rs146336077
|
0.00011
|
|
NM_014918.5(CHSY1):c.787G>T (p.Ala263Ser)
|
rs752265345
|
0.00011
|
|
NM_014918.5(CHSY1):c.973T>A (p.Ser325Thr)
|
rs765848875
|
0.00011
|
|
NM_017617.5(NOTCH1):c.2359A>G (p.Asn787Asp)
|
rs199672693
|
0.00011
|
|
NM_018062.4(FANCL):c.1088G>A (p.Ser363Asn)
|
rs544425912
|
0.00011
|
|
NM_018062.4(FANCL):c.706A>G (p.Ile236Val)
|
rs762904548
|
0.00011
|
|
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln)
|
rs146609069
|
0.00011
|
|
NM_020937.4(FANCM):c.6096A>G (p.Ile2032Met)
|
rs139343255
|
0.00011
|
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
|
NM_032444.4(SLX4):c.2053G>A (p.Val685Ile)
|
rs371002922
|
0.00011
|
|
NM_032444.4(SLX4):c.2335G>A (p.Val779Met)
|
rs768126392
|
0.00011
|
|
NM_032444.4(SLX4):c.2437G>A (p.Glu813Lys)
|
rs770020510
|
0.00011
|
|
NM_032444.4(SLX4):c.4903A>G (p.Lys1635Glu)
|
rs140417509
|
0.00011
|
|
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser)
|
rs368028754
|
0.00011
|
|
NM_147127.5(EVC2):c.1822C>T (p.Arg608Cys)
|
rs371876802
|
0.00011
|
|
NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln)
|
rs145786485
|
0.00011
|
|
NM_147127.5(EVC2):c.809C>T (p.Ser270Leu)
|
rs369153874
|
0.00011
|
|
NM_153717.3(EVC):c.2341G>A (p.Val781Met)
|
rs370514515
|
0.00011
|
|
NM_153717.3(EVC):c.299A>G (p.Asp100Gly)
|
rs1282571678
|
0.00011
|
|
NM_173660.5(DOK7):c.931A>G (p.Met311Val)
|
rs752949999
|
0.00011
|
|
NM_173660.5(DOK7):c.971C>T (p.Pro324Leu)
|
rs546889092
|
0.00011
|
|
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile)
|
rs376888740
|
0.00010
|
|
NM_000135.4(FANCA):c.2669G>A (p.Ser890Asn)
|
rs1055448646
|
0.00010
|
|
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys)
|
rs140687953
|
0.00010
|
|
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met)
|
rs779261511
|
0.00010
|
|
NM_000136.3(FANCC):c.896+6C>T
|
rs199525333
|
0.00010
|
|
NM_000751.3(CHRND):c.128G>A (p.Arg43Gln)
|
rs759448201
|
0.00010
|
|
NM_001113378.2(FANCI):c.1810A>G (p.Met604Val)
|
rs141879625
|
0.00010
|
|
NM_001113378.2(FANCI):c.2071G>A (p.Glu691Lys)
|
rs144419129
|
0.00010
|
|
NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly)
|
rs112932178
|
0.00010
|
|
NM_001271938.2(MEGF8):c.8367C>T (p.Gly2789=)
|
rs764014679
|
0.00010
|
|
NM_001278689.2(EOGT):c.1129C>T (p.Arg377Trp)
|
rs377612780
|
0.00010
|
|
NM_001278689.2(EOGT):c.176C>G (p.Thr59Ser)
|
rs139295083
|
0.00010
|
|
NM_002334.4(LRP4):c.1432C>T (p.Arg478Cys)
|
rs146660159
|
0.00010
|
|
NM_002334.4(LRP4):c.3980G>A (p.Arg1327Gln)
|
rs146372809
|
0.00010
|
|
NM_003334.4(UBA1):c.1033C>T (p.Arg345Trp)
|
rs139130383
|
0.00010
|
|
NM_004629.2(FANCG):c.1454G>A (p.Arg485Gln)
|
rs77152961
|
0.00010
|
|
NM_005592.4(MUSK):c.1061C>T (p.Thr354Met)
|
rs200064775
|
0.00010
|
|
NM_005592.4(MUSK):c.979G>A (p.Ala327Thr)
|
rs776201930
|
0.00010
|
|
NM_018062.4(FANCL):c.246C>G (p.Ser82Arg)
|
rs374675609
|
0.00010
|
|
NM_018062.4(FANCL):c.649G>C (p.Glu217Gln)
|
rs142110072
|
0.00010
|
|
NM_020937.4(FANCM):c.1849C>G (p.Gln617Glu)
|
rs138201476
|
0.00010
|
|
NM_021922.3(FANCE):c.59C>T (p.Ala20Val)
|
rs927154227
|
0.00010
|
|
NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter)
|
rs201285915
|
0.00010
|
|
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys)
|
rs767195580
|
0.00010
|
|
NM_032444.4(SLX4):c.3648G>T (p.Gln1216His)
|
rs139544666
|
0.00010
|
|
NM_032444.4(SLX4):c.4333C>T (p.Arg1445Trp)
|
rs777967898
|
0.00010
|
|
NM_032634.4(PIGO):c.394A>G (p.Met132Val)
|
rs772678647
|
0.00010
|
|
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)
|
rs28363307
|
0.00010
|
|
NM_130468.4(CHST14):c.1036G>C (p.Ala346Pro)
|
rs762133798
|
0.00010
|
|
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg)
|
rs201555920
|
0.00010
|
|
NM_153717.3(EVC):c.1102G>A (p.Ala368Thr)
|
rs145645536
|
0.00010
|
|
NM_153717.3(EVC):c.677C>T (p.Thr226Met)
|
rs201583621
|
0.00010
|
|
NM_173660.5(DOK7):c.1354C>T (p.Arg452Trp)
|
rs375116985
|
0.00010
|
|
NM_000135.4(FANCA):c.1771C>G (p.Arg591Gly)
|
rs753980264
|
0.00009
|
|
NM_000135.4(FANCA):c.2276C>T (p.Pro759Leu)
|
rs373147908
|
0.00009
|
|
NM_000136.3(FANCC):c.1589T>C (p.Leu530Ser)
|
rs766809608
|
0.00009
|
|
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln)
|
rs370346767
|
0.00009
|
|
NM_000136.3(FANCC):c.745A>G (p.Ser249Gly)
|
rs539583288
|
0.00009
|
|
NM_001018115.3(FANCD2):c.2348G>A (p.Cys783Tyr)
|
rs763986919
|
0.00009
|
|
NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro)
|
rs150075366
|
0.00009
|
|
NM_001113378.2(FANCI):c.1900T>A (p.Phe634Ile)
|
rs140965103
|
0.00009
|
|
NM_001113378.2(FANCI):c.3466G>C (p.Gly1156Arg)
|
rs200026076
|
0.00009
|
|
NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile)
|
rs377165815
|
0.00009
|
|
NM_001271938.2(MEGF8):c.2644G>A (p.Gly882Arg)
|
rs147068787
|
0.00009
|
|
NM_001271938.2(MEGF8):c.3760C>T (p.Arg1254Trp)
|
rs200195292
|
0.00009
|
|
NM_001346754.2(PIGW):c.491C>T (p.Thr164Ile)
|
rs543242274
|
0.00009
|
|
NM_001346754.2(PIGW):c.874A>G (p.Ser292Gly)
|
rs148837720
|
0.00009
|
|
NM_002334.4(LRP4):c.1153C>T (p.Arg385Trp)
|
rs200623154
|
0.00009
|
|
NM_002334.4(LRP4):c.2980G>A (p.Val994Ile)
|
rs370091369
|
0.00009
|
|
NM_002334.4(LRP4):c.3073G>C (p.Gly1025Arg)
|
rs141565454
|
0.00009
|
|
NM_002334.4(LRP4):c.5489G>A (p.Arg1830Gln)
|
rs146864522
|
0.00009
|
|
NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly)
|
rs377204138
|
0.00009
|
|
NM_002334.4(LRP4):c.70G>A (p.Glu24Lys)
|
rs200465829
|
0.00009
|
|
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val)
|
rs369459749
|
0.00009
|
|
NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys)
|
rs367565995
|
0.00009
|
|
NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe)
|
rs147458778
|
0.00009
|
|
NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu)
|
rs368830992
|
0.00009
|
|
NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp)
|
rs370896187
|
0.00009
|
|
NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly)
|
rs146764714
|
0.00009
|
|
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr)
|
rs141101671
|
0.00009
|
|
NM_005592.4(MUSK):c.2520C>A (p.Ser840Arg)
|
rs768074747
|
0.00009
|
|
NM_006265.3(RAD21):c.1479G>C (p.Gln493His)
|
rs759030507
|
0.00009
|
|
NM_006265.3(RAD21):c.1711C>T (p.Leu571Phe)
|
rs139935751
|
0.00009
|
|
NM_013352.4(DSE):c.2005A>G (p.Ile669Val)
|
rs145999978
|
0.00009
|
|
NM_013352.4(DSE):c.2663C>G (p.Thr888Ser)
|
rs376771433
|
0.00009
|
|
NM_013352.4(DSE):c.359T>C (p.Ile120Thr)
|
rs147451395
|
0.00009
|
|
NM_014918.5(CHSY1):c.539G>A (p.Arg180His)
|
rs770812991
|
0.00009
|
|
NM_017617.5(NOTCH1):c.2352C>T (p.Ser784=)
|
rs774701000
|
0.00009
|
|
NM_020937.4(FANCM):c.3616C>G (p.Gln1206Glu)
|
rs377167890
|
0.00009
|
|
NM_020937.4(FANCM):c.3829A>G (p.Asn1277Asp)
|
rs946862124
|
0.00009
|
|
NM_020937.4(FANCM):c.4523C>G (p.Ala1508Gly)
|
rs561723791
|
0.00009
|
|
NM_020937.4(FANCM):c.4986G>T (p.Lys1662Asn)
|
rs151273573
|
0.00009
|
|
NM_020937.4(FANCM):c.547A>C (p.Ser183Arg)
|
rs368937236
|
0.00009
|
|
NM_020937.4(FANCM):c.775A>G (p.Ile259Val)
|
rs150256536
|
0.00009
|
|
NM_020937.4(FANCM):c.869T>C (p.Ile290Thr)
|
rs377303950
|
0.00009
|
|
NM_022725.4(FANCF):c.860A>G (p.Tyr287Cys)
|
rs750623273
|
0.00009
|
|
NM_022725.4(FANCF):c.911G>C (p.Trp304Ser)
|
rs372140217
|
0.00009
|
|
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His)
|
rs369356672
|
0.00009
|
|
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu)
|
rs201054877
|
0.00009
|
|
NM_032043.3(BRIP1):c.1721C>T (p.Pro574Leu)
|
rs377302300
|
0.00009
|
|
NM_032444.4(SLX4):c.1223G>A (p.Arg408Gln)
|
rs377135500
|
0.00009
|
|
NM_032444.4(SLX4):c.2006G>A (p.Arg669His)
|
rs200807331
|
0.00009
|
|
NM_032444.4(SLX4):c.3911T>G (p.Val1304Gly)
|
rs146837290
|
0.00009
|
|
NM_032444.4(SLX4):c.4409C>T (p.Pro1470Leu)
|
rs72778139
|
0.00009
|
|
NM_032634.4(PIGO):c.2287G>T (p.Val763Leu)
|
rs146576650
|
0.00009
|
|
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)
|
rs587780256
|
0.00009
|
|
NM_130468.4(CHST14):c.32C>T (p.Ala11Val)
|
rs1030815676
|
0.00009
|
|
NM_153717.3(EVC):c.1744C>G (p.Leu582Val)
|
rs367863826
|
0.00009
|
|
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp)
|
rs200479973
|
0.00009
|
|
NM_153717.3(EVC):c.2392G>A (p.Gly798Arg)
|
rs142738089
|
0.00009
|
|
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu)
|
rs780968816
|
0.00009
|
|
NM_153717.3(EVC):c.899A>C (p.Glu300Ala)
|
rs149529742
|
0.00009
|
|
NM_173660.5(DOK7):c.1403G>A (p.Gly468Asp)
|
rs767909551
|
0.00009
|
|
NM_173660.5(DOK7):c.1503C>A (p.Asn501Lys)
|
rs750262940
|
0.00009
|
|
NM_173660.5(DOK7):c.838C>T (p.Arg280Trp)
|
rs139573161
|
0.00009
|
|
NM_173660.5(DOK7):c.932T>C (p.Met311Thr)
|
rs763124567
|
0.00009
|
|
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp)
|
rs373986283
|
0.00008
|
|
NM_000135.4(FANCA):c.679C>G (p.His227Asp)
|
rs142580507
|
0.00008
|
|
NM_000751.3(CHRND):c.1531G>A (p.Val511Met)
|
rs759384601
|
0.00008
|
|
NM_001018115.3(FANCD2):c.2480A>C (p.Glu827Ala)
|
rs145099733
|
0.00008
|
|
NM_001018115.3(FANCD2):c.4281+37G>A
|
rs376442380
|
0.00008
|
|
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys)
|
rs368711186
|
0.00008
|
|
NM_001346754.2(PIGW):c.1438G>A (p.Val480Ile)
|
rs758231021
|
0.00008
|
|
NM_001374353.1(GLI2):c.2666C>T (p.Pro889Leu)
|
rs759061834
|
0.00008
|
|
NM_002334.4(LRP4):c.2476G>A (p.Val826Ile)
|
rs142660660
|
0.00008
|
|
NM_002334.4(LRP4):c.3940G>A (p.Gly1314Ser)
|
rs371961330
|
0.00008
|
|
NM_002334.4(LRP4):c.4183G>A (p.Val1395Met)
|
rs774275092
|
0.00008
|
|
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val)
|
rs761575154
|
0.00008
|
|
NM_005055.5(RAPSN):c.775C>T (p.Arg259Cys)
|
rs150207592
|
0.00008
|
|
NM_005592.4(MUSK):c.1942G>A (p.Gly648Arg)
|
rs201291910
|
0.00008
|
|
NM_005592.4(MUSK):c.2287G>A (p.Ala763Thr)
|
rs199507468
|
0.00008
|
|
NM_018062.4(FANCL):c.238C>G (p.Leu80Val)
|
rs563513081
|
0.00008
|
|
NM_020436.5(SALL4):c.950C>T (p.Pro317Leu)
|
rs149863527
|
0.00008
|
|
NM_020937.4(FANCM):c.1309+5G>T
|
rs370363591
|
0.00008
|
|
NM_020937.4(FANCM):c.4352A>G (p.His1451Arg)
|
rs572890751
|
0.00008
|
|
NM_020937.4(FANCM):c.4367G>A (p.Arg1456His)
|
rs749332566
|
0.00008
|
|
NM_020937.4(FANCM):c.5177C>T (p.Pro1726Leu)
|
rs750384175
|
0.00008
|
|
NM_021922.3(FANCE):c.1424A>G (p.Lys475Arg)
|
rs200083899
|
0.00008
|
|
NM_022725.4(FANCF):c.970A>G (p.Lys324Glu)
|
rs200416138
|
0.00008
|
|
NM_032444.4(SLX4):c.4403G>A (p.Arg1468His)
|
rs574214196
|
0.00008
|
|
NM_032444.4(SLX4):c.4682C>T (p.Thr1561Met)
|
rs543847606
|
0.00008
|
|
NM_032634.4(PIGO):c.2024C>T (p.Ala675Val)
|
rs567641477
|
0.00008
|
|
NM_147127.5(EVC2):c.1456C>T (p.Arg486Cys)
|
rs780919705
|
0.00008
|
|
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu)
|
rs145758016
|
0.00008
|
|
NM_147127.5(EVC2):c.690C>G (p.Ser230Arg)
|
rs200743695
|
0.00008
|
|
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln)
|
rs752020764
|
0.00008
|
|
NM_173660.5(DOK7):c.1084G>A (p.Val362Met)
|
rs760157322
|
0.00008
|
|
NM_173660.5(DOK7):c.1230C>A (p.Ser410Arg)
|
rs200593935
|
0.00008
|
|
NM_173660.5(DOK7):c.1373C>A (p.Ala458Asp)
|
rs778440478
|
0.00008
|
|
NM_173660.5(DOK7):c.1388A>G (p.Glu463Gly)
|
rs769974159
|
0.00008
|
|
NM_173660.5(DOK7):c.214G>A (p.Glu72Lys)
|
rs770653049
|
0.00008
|
|
NM_173660.5(DOK7):c.688C>T (p.Arg230Cys)
|
rs202077864
|
0.00008
|
|
NM_000135.4(FANCA):c.1006+4G>C
|
rs201771215
|
0.00007
|
|
NM_000135.4(FANCA):c.3196G>C (p.Ala1066Pro)
|
rs556235245
|
0.00007
|
|
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys)
|
rs140992397
|
0.00007
|
|
NM_000136.3(FANCC):c.345+6A>T
|
rs368595927
|
0.00007
|
|
NM_000136.3(FANCC):c.889A>T (p.Met297Leu)
|
rs730881719
|
0.00007
|
|
NM_000751.3(CHRND):c.1126C>T (p.Arg376Trp)
|
rs368819172
|
0.00007
|
|
NM_000751.3(CHRND):c.892C>T (p.Arg298Cys)
|
rs377455260
|
0.00007
|
|
NM_001018115.3(FANCD2):c.1757C>T (p.Ala586Val)
|
rs377490218
|
0.00007
|
|
NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg)
|
rs139072231
|
0.00007
|
|
NM_001113378.2(FANCI):c.3481A>G (p.Thr1161Ala)
|
rs767847271
|
0.00007
|
|
NM_001113378.2(FANCI):c.754G>A (p.Glu252Lys)
|
rs776911782
|
0.00007
|
|
NM_001113378.2(FANCI):c.793C>T (p.Arg265Cys)
|
rs753511061
|
0.00007
|
|
NM_001271938.2(MEGF8):c.5371G>T (p.Ala1791Ser)
|
rs370106282
|
0.00007
|
|
NM_001271938.2(MEGF8):c.7076A>G (p.Tyr2359Cys)
|
rs143643113
|
0.00007
|
|
NM_001374353.1(GLI2):c.1178C>T (p.Thr393Met)
|
rs571690193
|
0.00007
|
|
NM_001374353.1(GLI2):c.4413G>T (p.Leu1471Phe)
|
rs146403211
|
0.00007
|
|
NM_001374353.1(GLI2):c.538A>C (p.Met180Leu)
|
rs565813552
|
0.00007
|
|
NM_002334.4(LRP4):c.1288C>T (p.Arg430Trp)
|
rs140528156
|
0.00007
|
|
NM_002334.4(LRP4):c.3277+5G>T
|
rs374900441
|
0.00007
|
|
NM_002334.4(LRP4):c.5054G>A (p.Arg1685Gln)
|
rs138238230
|
0.00007
|
|
NM_004629.2(FANCG):c.421C>T (p.Arg141Cys)
|
rs201153812
|
0.00007
|
|
NM_005236.3(ERCC4):c.1684G>A (p.Asp562Asn)
|
rs55736359
|
0.00007
|
|
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His)
|
rs760922582
|
0.00007
|
|
NM_005236.3(ERCC4):c.1871G>A (p.Arg624Gln)
|
rs180919656
|
0.00007
|
|
NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys)
|
rs374978891
|
0.00007
|
|
NM_005236.3(ERCC4):c.2288C>T (p.Pro763Leu)
|
rs761087753
|
0.00007
|
|
NM_013352.4(DSE):c.1222G>A (p.Ala408Thr)
|
rs150311697
|
0.00007
|
|
NM_020937.4(FANCM):c.122C>T (p.Pro41Leu)
|
rs548726090
|
0.00007
|
|
NM_020937.4(FANCM):c.1366G>A (p.Val456Ile)
|
rs779075398
|
0.00007
|
|
NM_020937.4(FANCM):c.140A>G (p.Glu47Gly)
|
rs756402229
|
0.00007
|
|
NM_020937.4(FANCM):c.1636G>A (p.Gly546Ser)
|
rs768676143
|
0.00007
|
|
NM_020937.4(FANCM):c.1742G>A (p.Arg581His)
|
rs748083548
|
0.00007
|
|
NM_020937.4(FANCM):c.1760T>C (p.Ile587Thr)
|
rs147805461
|
0.00007
|
|
NM_020937.4(FANCM):c.2716A>T (p.Ile906Phe)
|
rs773837264
|
0.00007
|
|
NM_020937.4(FANCM):c.3371C>T (p.Pro1124Leu)
|
rs148605513
|
0.00007
|
|
NM_020937.4(FANCM):c.3469G>A (p.Glu1157Lys)
|
rs374461604
|
0.00007
|
|
NM_020937.4(FANCM):c.3998A>C (p.Gln1333Pro)
|
rs143681767
|
0.00007
|
|
NM_020937.4(FANCM):c.5579G>A (p.Arg1860His)
|
rs776506025
|
0.00007
|
|
NM_020937.4(FANCM):c.5951A>T (p.Tyr1984Phe)
|
rs202101508
|
0.00007
|
|
NM_021922.3(FANCE):c.311C>G (p.Ala104Gly)
|
rs773580818
|
0.00007
|
|
NM_021922.3(FANCE):c.598C>T (p.Arg200Cys)
|
rs763151358
|
0.00007
|
|
NM_022725.4(FANCF):c.617C>T (p.Ala206Val)
|
rs756213451
|
0.00007
|
|
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys)
|
rs781310679
|
0.00007
|
|
NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu)
|
rs377620009
|
0.00007
|
|
NM_032043.3(BRIP1):c.2873T>A (p.Leu958Gln)
|
rs145859791
|
0.00007
|
|
NM_032444.4(SLX4):c.1232G>A (p.Arg411Gln)
|
rs201009985
|
0.00007
|
|
NM_032444.4(SLX4):c.1385A>G (p.Lys462Arg)
|
rs112133511
|
0.00007
|
|
NM_032444.4(SLX4):c.2005C>T (p.Arg669Cys)
|
rs375524355
|
0.00007
|
|
NM_032444.4(SLX4):c.2484G>C (p.Glu828Asp)
|
rs199656607
|
0.00007
|
|
NM_032444.4(SLX4):c.3775G>A (p.Ala1259Thr)
|
rs370663234
|
0.00007
|
|
NM_032444.4(SLX4):c.4393C>T (p.Arg1465Cys)
|
rs765485426
|
0.00007
|
|
NM_032444.4(SLX4):c.5208C>T (p.Gly1736=)
|
rs569225834
|
0.00007
|
|
NM_032444.4(SLX4):c.679G>A (p.Ala227Thr)
|
rs147872182
|
0.00007
|
|
NM_032634.4(PIGO):c.257A>G (p.Gln86Arg)
|
rs112670103
|
0.00007
|
|
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu)
|
rs150734953
|
0.00007
|
|
NM_058216.3(RAD51C):c.769C>G (p.Leu257Val)
|
rs750551012
|
0.00007
|
|
NM_133433.4(NIPBL):c.1981T>C (p.Cys661Arg)
|
rs746789978
|
0.00007
|
|
NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser)
|
rs190086412
|
0.00007
|
|
NM_133433.4(NIPBL):c.6954+3A>G
|
rs769439754
|
0.00007
|
|
NM_147127.5(EVC2):c.1470+3A>T
|
rs370769794
|
0.00007
|
|
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn)
|
rs180747811
|
0.00007
|
|
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly)
|
rs540660500
|
0.00007
|
|
NM_173660.5(DOK7):c.1457C>T (p.Pro486Leu)
|
rs200015934
|
0.00007
|
|
NM_000079.4(CHRNA1):c.1199A>G (p.Lys400Arg)
|
rs137916282
|
0.00006
|
|
NM_000079.4(CHRNA1):c.280G>T (p.Gly94Cys)
|
rs199470444
|
0.00006
|
|
NM_000079.4(CHRNA1):c.955C>T (p.His319Tyr)
|
rs150110639
|
0.00006
|
|
NM_000135.4(FANCA):c.1018G>A (p.Val340Ile)
|
rs774948790
|
0.00006
|
|
NM_000135.4(FANCA):c.1226-4C>G
|
rs934483477
|
0.00006
|
|
NM_000135.4(FANCA):c.1312G>A (p.Ala438Thr)
|
rs752587443
|
0.00006
|
|
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys)
|
rs776603588
|
0.00006
|
|
NM_000135.4(FANCA):c.3349-3C>T
|
rs373861415
|
0.00006
|
|
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys)
|
rs587778321
|
0.00006
|
|
NM_000135.4(FANCA):c.46G>C (p.Gly16Arg)
|
rs943773590
|
0.00006
|
|
NM_000135.4(FANCA):c.661A>G (p.Met221Val)
|
rs150924963
|
0.00006
|
|
NM_000135.4(FANCA):c.812A>C (p.Gln271Pro)
|
rs762721928
|
0.00006
|
|
NM_000136.3(FANCC):c.1607T>C (p.Leu536Pro)
|
rs587779903
|
0.00006
|
|
NM_000136.3(FANCC):c.733C>T (p.Arg245Trp)
|
rs571548182
|
0.00006
|
|
NM_000136.3(FANCC):c.767A>G (p.His256Arg)
|
rs730881716
|
0.00006
|
|
NM_000136.3(FANCC):c.843+5G>A
|
rs369082921
|
0.00006
|
|
NM_000136.3(FANCC):c.974C>T (p.Ala325Val)
|
rs367618818
|
0.00006
|
|
NM_000474.4(TWIST1):c.152G>T (p.Gly51Val)
|
rs1305059157
|
0.00006
|
|
NM_000751.3(CHRND):c.255C>A (p.Asp85Glu)
|
rs146905561
|
0.00006
|
|
NM_000751.3(CHRND):c.697C>T (p.Arg233Cys)
|
rs144063384
|
0.00006
|
|
NM_000751.3(CHRND):c.80G>A (p.Arg27Gln)
|
rs143002322
|
0.00006
|
|
NM_001018115.3(FANCD2):c.1085A>G (p.Glu362Gly)
|
rs951763949
|
0.00006
|
|
NM_001018115.3(FANCD2):c.1601A>G (p.Tyr534Cys)
|
rs143701205
|
0.00006
|
|
NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr)
|
rs760428640
|
0.00006
|
|
NM_001018115.3(FANCD2):c.2859+13C>G
|
rs376913349
|
0.00006
|
|
NM_001018115.3(FANCD2):c.3290G>A (p.Arg1097Gln)
|
rs755748094
|
0.00006
|
|
NM_001018115.3(FANCD2):c.356G>A (p.Arg119His)
|
rs566769898
|
0.00006
|
|
NM_001018115.3(FANCD2):c.796G>A (p.Val266Met)
|
rs530125285
|
0.00006
|
|
NM_001113378.2(FANCI):c.1112+3A>G
|
rs367970067
|
0.00006
|
|
NM_001113378.2(FANCI):c.1250A>G (p.His417Arg)
|
rs377227097
|
0.00006
|
|
NM_001113378.2(FANCI):c.1972A>T (p.Ile658Phe)
|
rs745308624
|
0.00006
|
|
NM_001113378.2(FANCI):c.206A>G (p.Tyr69Cys)
|
rs1414995711
|
0.00006
|
|
NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val)
|
rs377308647
|
0.00006
|
|
NM_001113378.2(FANCI):c.2434A>G (p.Ser812Gly)
|
rs768500794
|
0.00006
|
|
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser)
|
rs933284199
|
0.00006
|
|
NM_001113378.2(FANCI):c.2833G>C (p.Glu945Gln)
|
rs142322239
|
0.00006
|
|
NM_001113378.2(FANCI):c.288+3A>G
|
rs538283826
|
0.00006
|
|
NM_001113378.2(FANCI):c.3255T>G (p.Cys1085Trp)
|
rs755403672
|
0.00006
|
|
NM_001113378.2(FANCI):c.713G>A (p.Ser238Asn)
|
rs779604966
|
0.00006
|
|
NM_001271938.2(MEGF8):c.1391-3C>T
|
rs377586547
|
0.00006
|
|
NM_001271938.2(MEGF8):c.2342G>A (p.Arg781Gln)
|
rs146355445
|
0.00006
|
|
NM_001271938.2(MEGF8):c.3658C>T (p.Arg1220Cys)
|
rs762398666
|
0.00006
|
|
NM_001271938.2(MEGF8):c.4714G>A (p.Ala1572Thr)
|
rs777483950
|
0.00006
|
|
NM_001271938.2(MEGF8):c.5353C>T (p.Arg1785Trp)
|
rs772299336
|
0.00006
|
|
NM_001271938.2(MEGF8):c.5812C>T (p.His1938Tyr)
|
rs757924699
|
0.00006
|
|
NM_001271938.2(MEGF8):c.6500C>T (p.Pro2167Leu)
|
rs372350131
|
0.00006
|
|
NM_001271938.2(MEGF8):c.8122C>A (p.Pro2708Thr)
|
rs373293709
|
0.00006
|
|
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter)
|
rs147622852
|
0.00006
|
|
NM_001346754.2(PIGW):c.883C>T (p.Arg295Trp)
|
rs367592728
|
0.00006
|
|
NM_001374353.1(GLI2):c.1990G>A (p.Val664Met)
|
rs551617843
|
0.00006
|
|
NM_001374353.1(GLI2):c.671C>T (p.Thr224Met)
|
rs370333257
|
0.00006
|
|
NM_001999.4(FBN2):c.1181G>A (p.Arg394His)
|
rs150790914
|
0.00006
|
|
NM_001999.4(FBN2):c.4951A>G (p.Ile1651Val)
|
rs765442038
|
0.00006
|
|
NM_001999.4(FBN2):c.5422+6T>G
|
rs1000499022
|
0.00006
|
|
NM_001999.4(FBN2):c.5800+5G>A
|
rs375487064
|
0.00006
|
|
NM_002334.4(LRP4):c.1055G>A (p.Arg352Gln)
|
rs773234882
|
0.00006
|
|
NM_002334.4(LRP4):c.1369C>T (p.Arg457Cys)
|
rs148856658
|
0.00006
|
|
NM_002334.4(LRP4):c.5309G>A (p.Arg1770Gln)
|
rs150211735
|
0.00006
|
|
NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln)
|
rs770309253
|
0.00006
|
|
NM_002334.4(LRP4):c.5626G>A (p.Val1876Ile)
|
rs761403316
|
0.00006
|
|
NM_002334.4(LRP4):c.676+4A>G
|
rs759630167
|
0.00006
|
|
NM_002334.4(LRP4):c.826C>T (p.Arg276Cys)
|
rs557300271
|
0.00006
|
|
NM_002968.3(SALL1):c.1715C>T (p.Thr572Met)
|
rs373471563
|
0.00006
|
|
NM_002968.3(SALL1):c.3938G>A (p.Arg1313His)
|
rs529030284
|
0.00006
|
|
NM_004629.2(FANCG):c.1297C>T (p.Arg433Trp)
|
rs183777537
|
0.00006
|
|
NM_004629.2(FANCG):c.1801C>T (p.Arg601Cys)
|
rs368098479
|
0.00006
|
|
NM_004629.2(FANCG):c.464G>A (p.Arg155His)
|
rs201099560
|
0.00006
|
|
NM_004629.2(FANCG):c.724C>T (p.Arg242Trp)
|
rs574511407
|
0.00006
|
|
NM_004629.2(FANCG):c.766C>T (p.His256Tyr)
|
rs753955326
|
0.00006
|
|
NM_004629.2(FANCG):c.968T>C (p.Ile323Thr)
|
rs752346718
|
0.00006
|
|
NM_005105.5(RBM8A):c.68-3C>T
|
rs782317879
|
0.00006
|
|
NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe)
|
rs552142099
|
0.00006
|
|
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser)
|
rs765454246
|
0.00006
|
|
NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys)
|
rs376688194
|
0.00006
|
|
NM_005236.3(ERCC4):c.257G>A (p.Arg86His)
|
rs187435008
|
0.00006
|
|
NM_005236.3(ERCC4):c.2603A>C (p.His868Pro)
|
rs368064765
|
0.00006
|
|
NM_005236.3(ERCC4):c.260G>A (p.Arg87His)
|
rs371487368
|
0.00006
|
|
NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile)
|
rs140726146
|
0.00006
|
|
NM_005592.4(MUSK):c.929A>C (p.Gln310Pro)
|
rs201804790
|
0.00006
|
|
NM_013352.4(DSE):c.208C>T (p.Arg70Cys)
|
rs375337613
|
0.00006
|
|
NM_013352.4(DSE):c.2752A>G (p.Met918Val)
|
rs780791978
|
0.00006
|
|
NM_016277.5(RAB23):c.90C>G (p.Cys30Trp)
|
rs776515230
|
0.00006
|
|
NM_017617.5(NOTCH1):c.274G>C (p.Gly92Arg)
|
rs1397413424
|
0.00006
|
|
NM_018062.4(FANCL):c.288G>T (p.Lys96Asn)
|
rs770368316
|
0.00006
|
|
NM_018062.4(FANCL):c.335C>T (p.Ser112Leu)
|
rs756590256
|
0.00006
|
|
NM_018062.4(FANCL):c.4G>T (p.Ala2Ser)
|
rs144057264
|
0.00006
|
|
NM_018062.4(FANCL):c.661C>T (p.Arg221Trp)
|
rs772025061
|
0.00006
|
|
NM_020937.4(FANCM):c.1193G>A (p.Arg398Gln)
|
rs530233908
|
0.00006
|
|
NM_020937.4(FANCM):c.1222G>C (p.Asp408His)
|
rs199929558
|
0.00006
|
|
NM_020937.4(FANCM):c.179C>A (p.Ala60Glu)
|
rs200717151
|
0.00006
|
|
NM_020937.4(FANCM):c.187G>A (p.Glu63Lys)
|
rs768419961
|
0.00006
|
|
NM_020937.4(FANCM):c.2452A>G (p.Ile818Val)
|
rs199948045
|
0.00006
|
|
NM_020937.4(FANCM):c.3499A>G (p.Ile1167Val)
|
rs573485502
|
0.00006
|
|
NM_020937.4(FANCM):c.3731A>G (p.Glu1244Gly)
|
rs746030136
|
0.00006
|
|
NM_020937.4(FANCM):c.3794A>G (p.Glu1265Gly)
|
rs763808637
|
0.00006
|
|
NM_020937.4(FANCM):c.3868A>G (p.Thr1290Ala)
|
rs774044128
|
0.00006
|
|
NM_020937.4(FANCM):c.4708C>T (p.Arg1570Cys)
|
rs139376041
|
0.00006
|
|
NM_020937.4(FANCM):c.4934G>A (p.Arg1645His)
|
rs377502779
|
0.00006
|
|
NM_020937.4(FANCM):c.5770A>T (p.Thr1924Ser)
|
rs747103379
|
0.00006
|
|
NM_020937.4(FANCM):c.6041T>C (p.Val2014Ala)
|
rs374376462
|
0.00006
|
|
NM_020937.4(FANCM):c.6143T>C (p.Ile2048Thr)
|
rs150447576
|
0.00006
|
|
NM_021922.3(FANCE):c.145G>A (p.Ala49Thr)
|
rs1225225979
|
0.00006
|
|
NM_021922.3(FANCE):c.1588G>A (p.Ala530Thr)
|
rs377415237
|
0.00006
|
|
NM_021922.3(FANCE):c.17C>T (p.Ala6Val)
|
rs1019486578
|
0.00006
|
|
NM_021922.3(FANCE):c.316C>T (p.Arg106Trp)
|
rs759034838
|
0.00006
|
|
NM_021922.3(FANCE):c.524G>A (p.Gly175Asp)
|
rs765538271
|
0.00006
|
|
NM_021922.3(FANCE):c.559G>A (p.Glu187Lys)
|
rs142746353
|
0.00006
|
|
NM_022725.4(FANCF):c.404G>T (p.Arg135Leu)
|
rs759515146
|
0.00006
|
|
NM_022725.4(FANCF):c.887G>T (p.Gly296Val)
|
rs571674814
|
0.00006
|
|
NM_023110.3(FGFR1):c.2292+3A>G
|
rs747737281
|
0.00006
|
|
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu)
|
rs147755155
|
0.00006
|
|
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)
|
rs587780235
|
0.00006
|
|
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser)
|
rs587780251
|
0.00006
|
|
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)
|
rs201047375
|
0.00006
|
|
NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr)
|
rs754242563
|
0.00006
|
|
NM_032444.4(SLX4):c.1010C>T (p.Pro337Leu)
|
rs200363140
|
0.00006
|
|
NM_032444.4(SLX4):c.1160T>A (p.Phe387Tyr)
|
rs767298613
|
0.00006
|
|
NM_032444.4(SLX4):c.1243G>A (p.Glu415Lys)
|
rs146021821
|
0.00006
|
|
NM_032444.4(SLX4):c.1307C>T (p.Ala436Val)
|
rs773539191
|
0.00006
|
|
NM_032444.4(SLX4):c.1442G>A (p.Arg481Gln)
|
rs145194745
|
0.00006
|
|
NM_032444.4(SLX4):c.1455C>A (p.Asp485Glu)
|
rs150053867
|
0.00006
|
|
NM_032444.4(SLX4):c.1702G>A (p.Val568Met)
|
rs371825444
|
0.00006
|
|
NM_032444.4(SLX4):c.1904C>T (p.Ala635Val)
|
rs746717279
|
0.00006
|
|
NM_032444.4(SLX4):c.2381A>T (p.Asp794Val)
|
rs201622632
|
0.00006
|
|
NM_032444.4(SLX4):c.258A>G (p.Ile86Met)
|
rs112205823
|
0.00006
|
|
NM_032444.4(SLX4):c.2749G>A (p.Ala917Thr)
|
rs148428054
|
0.00006
|
|
NM_032444.4(SLX4):c.2753C>T (p.Thr918Ile)
|
rs781323142
|
0.00006
|
|
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg)
|
rs546628836
|
0.00006
|
|
NM_032444.4(SLX4):c.3068C>A (p.Ala1023Asp)
|
rs769271628
|
0.00006
|
|
NM_032444.4(SLX4):c.3101G>A (p.Arg1034His)
|
rs150453226
|
0.00006
|
|
NM_032444.4(SLX4):c.4146C>A (p.Ser1382Arg)
|
rs926938694
|
0.00006
|
|
NM_032444.4(SLX4):c.5072A>G (p.Asn1691Ser)
|
rs551385115
|
0.00006
|
|
NM_032444.4(SLX4):c.5188T>C (p.Ser1730Pro)
|
rs199838670
|
0.00006
|
|
NM_032444.4(SLX4):c.5441G>A (p.Arg1814His)
|
rs201036767
|
0.00006
|
|
NM_032444.4(SLX4):c.5477G>A (p.Arg1826Gln)
|
rs373558741
|
0.00006
|
|
NM_032444.4(SLX4):c.996G>T (p.Gln332His)
|
rs377201471
|
0.00006
|
|
NM_032634.4(PIGO):c.158G>A (p.Gly53Glu)
|
rs750495026
|
0.00006
|
|
NM_032634.4(PIGO):c.1864C>A (p.Leu622Met)
|
rs149262338
|
0.00006
|
|
NM_032634.4(PIGO):c.2506A>G (p.Met836Val)
|
rs752108320
|
0.00006
|
|
NM_032634.4(PIGO):c.2908C>T (p.Arg970Trp)
|
rs748546962
|
0.00006
|
|
NM_032634.4(PIGO):c.581T>G (p.Phe194Cys)
|
rs61755365
|
0.00006
|
|
NM_058216.3(RAD51C):c.1108C>T (p.Arg370Ter)
|
rs756744016
|
0.00006
|
|
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly)
|
rs587781383
|
0.00006
|
|
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)
|
rs201523760
|
0.00006
|
|
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)
|
rs587780255
|
0.00006
|
|
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu)
|
rs573992101
|
0.00006
|
|
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala)
|
rs185745349
|
0.00006
|
|
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys)
|
rs377461598
|
0.00006
|
|
NM_147127.5(EVC2):c.2248G>A (p.Glu750Lys)
|
rs144270330
|
0.00006
|
|
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys)
|
rs375693723
|
0.00006
|
|
NM_147127.5(EVC2):c.2267A>C (p.Asn756Thr)
|
rs146837459
|
0.00006
|
|
NM_147127.5(EVC2):c.878C>T (p.Pro293Leu)
|
rs138882677
|
0.00006
|
|
NM_153717.3(EVC):c.1807G>A (p.Val603Met)
|
rs886042994
|
0.00006
|
|
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val)
|
rs371846002
|
0.00006
|
|
NM_173660.5(DOK7):c.1393A>G (p.Thr465Ala)
|
rs765625554
|
0.00006
|
|
NM_173660.5(DOK7):c.1435G>A (p.Gly479Ser)
|
rs140519765
|
0.00006
|
|
NM_173660.5(DOK7):c.1483T>G (p.Cys495Gly)
|
rs775074100
|
0.00006
|
|
NM_173660.5(DOK7):c.155G>A (p.Arg52Gln)
|
rs201953114
|
0.00006
|
|
NM_173660.5(DOK7):c.229A>G (p.Thr77Ala)
|
rs759395609
|
0.00006
|
|
NM_173660.5(DOK7):c.327C>T (p.Gly109=)
|
rs377367035
|
0.00006
|
|
NM_173660.5(DOK7):c.922G>A (p.Gly308Arg)
|
rs759691572
|
0.00006
|
|
NM_173660.5(DOK7):c.973C>T (p.Arg325Trp)
|
rs376280466
|
0.00006
|
|
NM_173660.5(DOK7):c.974G>A (p.Arg325Gln)
|
rs750929473
|
0.00006
|
|
NM_000079.4(CHRNA1):c.112G>A (p.Val38Met)
|
rs569049580
|
0.00005
|
|
NM_000079.4(CHRNA1):c.575A>G (p.Glu192Gly)
|
rs746009147
|
0.00005
|
|
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg)
|
rs141422170
|
0.00005
|
|
NM_000136.3(FANCC):c.1241C>T (p.Ser414Leu)
|
rs200719554
|
0.00005
|
|
NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys)
|
rs730881723
|
0.00005
|
|
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met)
|
rs149917017
|
0.00005
|
|
NM_000136.3(FANCC):c.1603C>T (p.Arg535Cys)
|
rs185822330
|
0.00005
|
|
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)
|
rs587779905
|
0.00005
|
|
NM_000136.3(FANCC):c.800A>G (p.Asn267Ser)
|
rs200854639
|
0.00005
|
|
NM_000751.3(CHRND):c.260G>A (p.Arg87Gln)
|
rs201264983
|
0.00005
|
|
NM_000751.3(CHRND):c.442C>T (p.Arg148Cys)
|
rs199984639
|
0.00005
|
|
NM_001018113.3(FANCB):c.2146A>T (p.Ile716Phe)
|
rs373141774
|
0.00005
|
|
NM_001018113.3(FANCB):c.2267T>C (p.Ile756Thr)
|
rs756392097
|
0.00005
|
|
NM_001018115.3(FANCD2):c.1373A>G (p.Tyr458Cys)
|
rs535519170
|
0.00005
|
|
NM_001018115.3(FANCD2):c.2068G>A (p.Asp690Asn)
|
rs534038231
|
0.00005
|
|
NM_001018115.3(FANCD2):c.836C>T (p.Pro279Leu)
|
rs752880854
|
0.00005
|
|
NM_001018115.3(FANCD2):c.943C>T (p.Arg315Trp)
|
rs778865461
|
0.00005
|
|
NM_001113378.2(FANCI):c.1564C>T (p.Arg522Trp)
|
rs371568506
|
0.00005
|
|
NM_001113378.2(FANCI):c.1727A>G (p.Asn576Ser)
|
rs573652425
|
0.00005
|
|
NM_001113378.2(FANCI):c.1891-3C>T
|
rs371578898
|
0.00005
|
|
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys)
|
rs544848412
|
0.00005
|
|
NM_001113378.2(FANCI):c.839A>G (p.Lys280Arg)
|
rs772035961
|
0.00005
|
|
NM_001271938.2(MEGF8):c.3841C>T (p.Arg1281Trp)
|
rs371283114
|
0.00005
|
|
NM_001271938.2(MEGF8):c.4028C>T (p.Ala1343Val)
|
rs746330794
|
0.00005
|
|
NM_001271938.2(MEGF8):c.4516C>T (p.Arg1506Cys)
|
rs142361779
|
0.00005
|
|
NM_001271938.2(MEGF8):c.5257C>T (p.Arg1753Trp)
|
rs139859934
|
0.00005
|
|
NM_001271938.2(MEGF8):c.7589C>T (p.Pro2530Leu)
|
rs769598183
|
0.00005
|
|
NM_001271938.2(MEGF8):c.8492G>A (p.Arg2831Gln)
|
rs766621187
|
0.00005
|
|
NM_001346754.2(PIGW):c.886G>T (p.Val296Phe)
|
rs143449294
|
0.00005
|
|
NM_001374353.1(GLI2):c.1367G>A (p.Arg456His)
|
rs150170739
|
0.00005
|
|
NM_001374353.1(GLI2):c.3371A>T (p.Asn1124Ile)
|
rs761857488
|
0.00005
|
|
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met)
|
rs762139261
|
0.00005
|
|
NM_002334.4(LRP4):c.1285G>A (p.Asp429Asn)
|
rs770279192
|
0.00005
|
|
NM_002334.4(LRP4):c.299C>T (p.Ser100Leu)
|
rs762837686
|
0.00005
|
|
NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu)
|
rs146362081
|
0.00005
|
|
NM_002334.4(LRP4):c.5653C>T (p.Arg1885Ter)
|
rs147138337
|
0.00005
|
|
NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met)
|
rs372637156
|
0.00005
|
|
NM_004629.2(FANCG):c.55A>G (p.Lys19Glu)
|
rs186641344
|
0.00005
|
|
NM_004629.2(FANCG):c.704C>T (p.Ala235Val)
|
rs574975594
|
0.00005
|
|
NM_004629.2(FANCG):c.769C>T (p.Arg257Cys)
|
rs759314410
|
0.00005
|
|
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met)
|
rs570140663
|
0.00005
|
|
NM_005055.5(RAPSN):c.202G>A (p.Val68Ile)
|
rs200892332
|
0.00005
|
|
NM_005055.5(RAPSN):c.215C>T (p.Thr72Met)
|
rs770633491
|
0.00005
|
|
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg)
|
rs150756111
|
0.00005
|
|
NM_005055.5(RAPSN):c.690+4G>A
|
rs201803329
|
0.00005
|
|
NM_005055.5(RAPSN):c.949G>A (p.Glu317Lys)
|
rs772054419
|
0.00005
|
|
NM_005236.3(ERCC4):c.1001C>T (p.Ser334Leu)
|
rs750883282
|
0.00005
|
|
NM_005236.3(ERCC4):c.1193G>A (p.Ser398Asn)
|
rs1238124123
|
0.00005
|
|
NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys)
|
rs150291286
|
0.00005
|
|
NM_005236.3(ERCC4):c.2125G>A (p.Val709Met)
|
rs373906926
|
0.00005
|
|
NM_005236.3(ERCC4):c.2546A>T (p.Gln849Leu)
|
rs750999717
|
0.00005
|
|
NM_005592.4(MUSK):c.17A>G (p.Asn6Ser)
|
rs747203404
|
0.00005
|
|
NM_005592.4(MUSK):c.1847C>T (p.Ser616Leu)
|
rs181652070
|
0.00005
|
|
NM_012243.3(SLC35A3):c.409G>A (p.Gly137Ser)
|
rs764989689
|
0.00005
|
|
NM_013352.4(DSE):c.2429G>A (p.Arg810Gln)
|
rs367959320
|
0.00005
|
|
NM_018062.4(FANCL):c.343A>G (p.Ile115Val)
|
rs149414332
|
0.00005
|
|
NM_020937.4(FANCM):c.1091G>C (p.Cys364Ser)
|
rs1257244524
|
0.00005
|
|
NM_020937.4(FANCM):c.1328T>G (p.Phe443Cys)
|
rs549724218
|
0.00005
|
|
NM_020937.4(FANCM):c.1550C>T (p.Thr517Met)
|
rs149473953
|
0.00005
|
|
NM_020937.4(FANCM):c.2426T>G (p.Phe809Cys)
|
rs565347397
|
0.00005
|
|
NM_020937.4(FANCM):c.317A>G (p.Asn106Ser)
|
rs550700790
|
0.00005
|
|
NM_020937.4(FANCM):c.3509C>T (p.Thr1170Met)
|
rs151218879
|
0.00005
|
|
NM_020937.4(FANCM):c.4936G>C (p.Ala1646Pro)
|
rs751104662
|
0.00005
|
|
NM_021922.3(FANCE):c.298T>A (p.Ser100Thr)
|
rs768911543
|
0.00005
|
|
NM_021922.3(FANCE):c.397C>T (p.Leu133Phe)
|
rs759124595
|
0.00005
|
|
NM_021922.3(FANCE):c.656G>T (p.Arg219Ile)
|
rs551170184
|
0.00005
|
|
NM_021922.3(FANCE):c.856-3C>T
|
rs749111562
|
0.00005
|
|
NM_023110.3(FGFR1):c.2351G>A (p.Arg784Gln)
|
rs746602135
|
0.00005
|
|
NM_032043.3(BRIP1):c.1688A>G (p.Asp563Gly)
|
rs577768294
|
0.00005
|
|
NM_032043.3(BRIP1):c.2863A>C (p.Asn955His)
|
rs587782244
|
0.00005
|
|
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met)
|
rs587781666
|
0.00005
|
|
NM_032444.4(SLX4):c.1379G>A (p.Arg460His)
|
rs369994733
|
0.00005
|
|
NM_032444.4(SLX4):c.145G>A (p.Glu49Lys)
|
rs139757085
|
0.00005
|
|
NM_032444.4(SLX4):c.1640C>T (p.Thr547Met)
|
rs755156257
|
0.00005
|
|
NM_032444.4(SLX4):c.1945G>A (p.Gly649Ser)
|
rs780269002
|
0.00005
|
|
NM_032444.4(SLX4):c.1990C>A (p.Pro664Thr)
|
rs759223029
|
0.00005
|
|
NM_032444.4(SLX4):c.2259C>G (p.His753Gln)
|
rs374294258
|
0.00005
|
|
NM_032444.4(SLX4):c.2612C>T (p.Ala871Val)
|
rs138259798
|
0.00005
|
|
NM_032444.4(SLX4):c.2869A>T (p.Ser957Cys)
|
rs776932605
|
0.00005
|
|
NM_032444.4(SLX4):c.3019C>A (p.Gln1007Lys)
|
rs138798067
|
0.00005
|
|
NM_032444.4(SLX4):c.3061C>T (p.Arg1021Cys)
|
rs138344471
|
0.00005
|
|
NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys)
|
rs140529288
|
0.00005
|
|
NM_032444.4(SLX4):c.3184C>T (p.Arg1062Cys)
|
rs569194362
|
0.00005
|
|
NM_032444.4(SLX4):c.3409A>G (p.Arg1137Gly)
|
rs761238767
|
0.00005
|
|
NM_032444.4(SLX4):c.3701C>T (p.Ala1234Val)
|
rs186036075
|
0.00005
|
|
NM_032444.4(SLX4):c.3841G>A (p.Gly1281Arg)
|
rs754996241
|
0.00005
|
|
NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala)
|
rs151144102
|
0.00005
|
|
NM_032444.4(SLX4):c.4567G>C (p.Glu1523Gln)
|
rs148542931
|
0.00005
|
|
NM_032444.4(SLX4):c.461G>A (p.Arg154Gln)
|
rs778404827
|
0.00005
|
|
NM_032444.4(SLX4):c.4712C>T (p.Thr1571Met)
|
rs765601038
|
0.00005
|
|
NM_032444.4(SLX4):c.4750C>T (p.Arg1584Cys)
|
rs560866356
|
0.00005
|
|
NM_032444.4(SLX4):c.4856C>T (p.Pro1619Leu)
|
rs771200478
|
0.00005
|
|
NM_032444.4(SLX4):c.528A>T (p.Lys176Asn)
|
rs778569160
|
0.00005
|
|
NM_032444.4(SLX4):c.5371C>T (p.Arg1791Cys)
|
rs371875095
|
0.00005
|
|
NM_032444.4(SLX4):c.5383C>T (p.Arg1795Cys)
|
rs762619200
|
0.00005
|
|
NM_032444.4(SLX4):c.5476C>T (p.Arg1826Trp)
|
rs199736788
|
0.00005
|
|
NM_032444.4(SLX4):c.668G>A (p.Arg223His)
|
rs762475814
|
0.00005
|
|
NM_032634.4(PIGO):c.1288C>G (p.Gln430Glu)
|
rs375108991
|
0.00005
|
|
NM_032634.4(PIGO):c.2191C>T (p.Arg731Cys)
|
rs148341577
|
0.00005
|
|
NM_032634.4(PIGO):c.2617C>G (p.Leu873Val)
|
rs542956681
|
0.00005
|
|
NM_032634.4(PIGO):c.268G>A (p.Val90Met)
|
rs142276590
|
0.00005
|
|
NM_058216.3(RAD51C):c.331C>T (p.Leu111Phe)
|
rs1402638488
|
0.00005
|
|
NM_133433.4(NIPBL):c.2137A>G (p.Thr713Ala)
|
rs773534683
|
0.00005
|
|
NM_133433.4(NIPBL):c.3851A>G (p.Asn1284Ser)
|
rs143152112
|
0.00005
|
|
NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp)
|
rs760871098
|
0.00005
|
|
NM_147127.5(EVC2):c.3644G>A (p.Arg1215His)
|
rs139577475
|
0.00005
|
|
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln)
|
rs767013073
|
0.00005
|
|
NM_173660.5(DOK7):c.1219A>G (p.Thr407Ala)
|
rs377326004
|
0.00005
|
|
NM_173660.5(DOK7):c.314G>A (p.Arg105His)
|
rs776352781
|
0.00005
|
|
NM_173660.5(DOK7):c.54+8C>T
|
rs577687998
|
0.00005
|
|
NM_173660.5(DOK7):c.829G>A (p.Ala277Thr)
|
rs759117081
|
0.00005
|
|
NM_173660.5(DOK7):c.968G>A (p.Arg323His)
|
rs763188032
|
0.00005
|
|
NM_000079.4(CHRNA1):c.137G>A (p.Arg46His)
|
rs149851833
|
0.00004
|
|
NM_000079.4(CHRNA1):c.76C>T (p.Arg26Cys)
|
rs536229089
|
0.00004
|
|
NM_000079.4(CHRNA1):c.77G>A (p.Arg26His)
|
rs777813669
|
0.00004
|
|
NM_000135.4(FANCA):c.1359+5G>C
|
rs183569738
|
0.00004
|
|
NM_000135.4(FANCA):c.1424C>T (p.Thr475Met)
|
rs761957732
|
0.00004
|
|
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys)
|
rs201323171
|
0.00004
|
|
NM_000135.4(FANCA):c.1716-3C>T
|
rs760855591
|
0.00004
|
|
NM_000135.4(FANCA):c.1799G>A (p.Arg600His)
|
rs775917892
|
0.00004
|
|
NM_000135.4(FANCA):c.189+5G>A
|
rs373907502
|
0.00004
|
|
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp)
|
rs768520283
|
0.00004
|
|
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp)
|
rs763187355
|
0.00004
|
|
NM_000135.4(FANCA):c.2291G>A (p.Arg764Gln)
|
rs377442601
|
0.00004
|
|
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr)
|
rs142869950
|
0.00004
|
|
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu)
|
rs587778315
|
0.00004
|
|
NM_000135.4(FANCA):c.3226C>G (p.Leu1076Val)
|
rs368921238
|
0.00004
|
|
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)
|
rs374537936
|
0.00004
|
|
NM_000135.4(FANCA):c.3997T>C (p.Phe1333Leu)
|
rs576079738
|
0.00004
|
|
NM_000135.4(FANCA):c.445T>G (p.Leu149Val)
|
rs372814783
|
0.00004
|
|
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val)
|
rs730881725
|
0.00004
|
|
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser)
|
rs201379302
|
0.00004
|
|
NM_000136.3(FANCC):c.1561G>A (p.Glu521Lys)
|
rs752855423
|
0.00004
|
|
NM_000136.3(FANCC):c.1604G>A (p.Arg535His)
|
rs587779902
|
0.00004
|
|
NM_000136.3(FANCC):c.202G>C (p.Gly68Arg)
|
rs777111154
|
0.00004
|
|
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly)
|
rs147479204
|
0.00004
|
|
NM_000136.3(FANCC):c.491A>C (p.Asn164Thr)
|
rs950623649
|
0.00004
|
|
NM_000136.3(FANCC):c.626G>A (p.Arg209His)
|
rs587778327
|
0.00004
|
|
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile)
|
rs778966663
|
0.00004
|
|
NM_000136.3(FANCC):c.9A>T (p.Gln3His)
|
rs769585639
|
0.00004
|
|
NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys)
|
rs145955590
|
0.00004
|
|
NM_000751.3(CHRND):c.1319A>T (p.Asp440Val)
|
rs373747090
|
0.00004
|
|
NM_000751.3(CHRND):c.1442T>C (p.Met481Thr)
|
rs777430398
|
0.00004
|
|
NM_000751.3(CHRND):c.160G>A (p.Val54Ile)
|
rs369869476
|
0.00004
|
|
NM_000751.3(CHRND):c.226A>G (p.Asn76Asp)
|
rs200755491
|
0.00004
|
|
NM_000751.3(CHRND):c.988G>A (p.Val330Met)
|
rs773972915
|
0.00004
|
|
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly)
|
rs866138487
|
0.00004
|
|
NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys)
|
rs765378218
|
0.00004
|
|
NM_001018115.3(FANCD2):c.1306C>A (p.Leu436Met)
|
rs373898927
|
0.00004
|
|
NM_001018115.3(FANCD2):c.1718T>C (p.Ile573Thr)
|
rs774801047
|
0.00004
|
|
NM_001018115.3(FANCD2):c.1802A>G (p.Asn601Ser)
|
rs955122662
|
0.00004
|
|
NM_001018115.3(FANCD2):c.1810G>A (p.Asp604Asn)
|
rs145170666
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2309A>G (p.Lys770Arg)
|
rs533245636
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2422A>G (p.Met808Val)
|
rs375415579
|
0.00004
|
|
NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr)
|
rs767659342
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2741C>T (p.Thr914Ile)
|
rs764903036
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2744C>T (p.Ser915Leu)
|
rs181274599
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2984G>A (p.Gly995Glu)
|
rs1479681259
|
0.00004
|
|
NM_001018115.3(FANCD2):c.3334A>G (p.Ser1112Gly)
|
rs139929432
|
0.00004
|
|
NM_001018115.3(FANCD2):c.3343G>A (p.Val1115Ile)
|
rs200800132
|
0.00004
|
|
NM_001018115.3(FANCD2):c.3896G>A (p.Arg1299His)
|
rs781701459
|
0.00004
|
|
NM_001018115.3(FANCD2):c.4052C>T (p.Thr1351Met)
|
rs775898191
|
0.00004
|
|
NM_001018115.3(FANCD2):c.4281+107T>C
|
rs767893462
|
0.00004
|
|
NM_001018115.3(FANCD2):c.595C>G (p.Leu199Val)
|
rs756336462
|
0.00004
|
|
NM_001018115.3(FANCD2):c.776T>C (p.Leu259Pro)
|
rs748724233
|
0.00004
|
|
NM_001113378.2(FANCI):c.1735G>A (p.Ala579Thr)
|
rs147963936
|
0.00004
|
|
NM_001113378.2(FANCI):c.1739A>G (p.Asn580Ser)
|
rs866290050
|
0.00004
|
|
NM_001113378.2(FANCI):c.1765G>A (p.Asp589Asn)
|
rs374176569
|
0.00004
|
|
NM_001113378.2(FANCI):c.179C>G (p.Ala60Gly)
|
rs757018470
|
0.00004
|
|
NM_001113378.2(FANCI):c.1904A>G (p.Tyr635Cys)
|
rs764435343
|
0.00004
|
|
NM_001113378.2(FANCI):c.2146A>G (p.Ser716Gly)
|
rs376641420
|
0.00004
|
|
NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly)
|
rs752114490
|
0.00004
|
|
NM_001113378.2(FANCI):c.2419A>G (p.Met807Val)
|
rs750348956
|
0.00004
|
|
NM_001113378.2(FANCI):c.2960C>T (p.Thr987Met)
|
rs138432305
|
0.00004
|
|
NM_001113378.2(FANCI):c.2992C>T (p.Pro998Ser)
|
rs182154506
|
0.00004
|
|
NM_001113378.2(FANCI):c.304G>A (p.Gly102Arg)
|
rs1207482417
|
0.00004
|
|
NM_001113378.2(FANCI):c.3056G>A (p.Arg1019Gln)
|
rs772401747
|
0.00004
|
|
NM_001113378.2(FANCI):c.3734G>T (p.Arg1245Leu)
|
rs771758909
|
0.00004
|
|
NM_001113378.2(FANCI):c.3832C>T (p.His1278Tyr)
|
rs776134519
|
0.00004
|
|
NM_001113378.2(FANCI):c.550G>C (p.Val184Leu)
|
rs571745030
|
0.00004
|
|
NM_001113378.2(FANCI):c.772A>G (p.Thr258Ala)
|
rs773039171
|
0.00004
|
|
NM_001113378.2(FANCI):c.89C>T (p.Thr30Ile)
|
rs199713555
|
0.00004
|
|
NM_001271938.2(MEGF8):c.2653G>A (p.Gly885Arg)
|
rs746031284
|
0.00004
|
|
NM_001271938.2(MEGF8):c.4856C>T (p.Ala1619Val)
|
rs913420234
|
0.00004
|
|
NM_001271938.2(MEGF8):c.6497G>A (p.Arg2166His)
|
rs370984978
|
0.00004
|
|
NM_001271938.2(MEGF8):c.6752C>T (p.Thr2251Met)
|
rs370225382
|
0.00004
|
|
NM_001271938.2(MEGF8):c.7420C>T (p.Arg2474Cys)
|
rs753671779
|
0.00004
|
|
NM_001271938.2(MEGF8):c.8284G>A (p.Gly2762Arg)
|
rs770472361
|
0.00004
|
|
NM_001271938.2(MEGF8):c.8522C>G (p.Thr2841Ser)
|
rs914088074
|
0.00004
|
|
NM_001271938.2(MEGF8):c.853G>A (p.Val285Met)
|
rs376248434
|
0.00004
|
|
NM_001346754.2(PIGW):c.281T>A (p.Leu94Ter)
|
rs770634248
|
0.00004
|
|
NM_001346754.2(PIGW):c.292T>C (p.Tyr98His)
|
rs144724068
|
0.00004
|
|
NM_001346754.2(PIGW):c.764T>C (p.Ile255Thr)
|
rs199762429
|
0.00004
|
|
NM_001374353.1(GLI2):c.118G>A (p.Ala40Thr)
|
rs776675838
|
0.00004
|
|
NM_001374353.1(GLI2):c.1317+6C>G
|
rs200971419
|
0.00004
|
|
NM_001374353.1(GLI2):c.2267G>A (p.Gly756Asp)
|
rs886054812
|
0.00004
|
|
NM_001374353.1(GLI2):c.320C>T (p.Pro107Leu)
|
rs374562179
|
0.00004
|
|
NM_001374353.1(GLI2):c.4510C>G (p.His1504Asp)
|
rs199843410
|
0.00004
|
|
NM_001374353.1(GLI2):c.4592G>A (p.Arg1531Gln)
|
rs371304728
|
0.00004
|
|
NM_001374353.1(GLI2):c.811G>A (p.Gly271Ser)
|
rs144406619
|
0.00004
|
|
NM_001374353.1(GLI2):c.8C>T (p.Thr3Met)
|
rs770918439
|
0.00004
|
|
NM_001999.4(FBN2):c.2722G>A (p.Glu908Lys)
|
rs1204772554
|
0.00004
|
|
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=)
|
rs532983875
|
0.00004
|
|
NM_001999.4(FBN2):c.3602T>C (p.Ile1201Thr)
|
rs755127278
|
0.00004
|
|
NM_001999.4(FBN2):c.4259G>A (p.Ser1420Asn)
|
rs751406554
|
0.00004
|
|
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp)
|
rs773305589
|
0.00004
|
|
NM_001999.4(FBN2):c.6556C>G (p.Gln2186Glu)
|
rs1415043313
|
0.00004
|
|
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys)
|
rs200158069
|
0.00004
|
|
NM_002334.4(LRP4):c.1054C>T (p.Arg352Trp)
|
rs148456240
|
0.00004
|
|
NM_002334.4(LRP4):c.1087G>A (p.Gly363Ser)
|
rs765602909
|
0.00004
|
|
NM_002334.4(LRP4):c.1309+6G>T
|
rs532952316
|
0.00004
|
|
NM_002334.4(LRP4):c.1481G>A (p.Arg494His)
|
rs777801967
|
0.00004
|
|
NM_002334.4(LRP4):c.2080C>T (p.Arg694Cys)
|
rs1323412236
|
0.00004
|
|
NM_002334.4(LRP4):c.2610C>T (p.Gly870=)
|
rs751431064
|
0.00004
|
|
NM_002334.4(LRP4):c.2738G>A (p.Gly913Glu)
|
rs376848284
|
0.00004
|
|
NM_002334.4(LRP4):c.2837C>G (p.Pro946Arg)
|
rs368880157
|
0.00004
|
|
NM_002334.4(LRP4):c.3035G>T (p.Gly1012Val)
|
rs748636802
|
0.00004
|
|
NM_002334.4(LRP4):c.3367C>A (p.Leu1123Ile)
|
rs763514608
|
0.00004
|
|
NM_002334.4(LRP4):c.3388G>A (p.Ala1130Thr)
|
rs142904009
|
0.00004
|
|
NM_002334.4(LRP4):c.3581G>A (p.Arg1194Gln)
|
rs369916883
|
0.00004
|
|
NM_002334.4(LRP4):c.5374T>C (p.Tyr1792His)
|
rs146542222
|
0.00004
|
|
NM_002334.4(LRP4):c.5540C>T (p.Thr1847Met)
|
rs375391856
|
0.00004
|
|
NM_002334.4(LRP4):c.761C>T (p.Ala254Val)
|
rs767281769
|
0.00004
|
|
NM_002968.3(SALL1):c.2947G>C (p.Glu983Gln)
|
rs762072595
|
0.00004
|
|
NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met)
|
rs776104367
|
0.00004
|
|
NM_003334.4(UBA1):c.1150C>T (p.Arg384Trp)
|
rs148642741
|
0.00004
|
|
NM_003334.4(UBA1):c.1765G>A (p.Val589Ile)
|
rs782106589
|
0.00004
|
|
NM_003334.4(UBA1):c.370G>A (p.Gly124Ser)
|
rs149161653
|
0.00004
|
|
NM_004380.3(CREBBP):c.2112A>G (p.Pro704=)
|
rs398124142
|
0.00004
|
|
NM_004629.2(FANCG):c.1510A>C (p.Lys504Gln)
|
rs1304316655
|
0.00004
|
|
NM_004629.2(FANCG):c.293G>A (p.Arg98Gln)
|
rs372854981
|
0.00004
|
|
NM_004629.2(FANCG):c.422G>A (p.Arg141His)
|
rs775719850
|
0.00004
|
|
NM_004629.2(FANCG):c.880G>A (p.Gly294Arg)
|
rs886063897
|
0.00004
|
|
NM_004629.2(FANCG):c.992C>G (p.Pro331Arg)
|
rs765722724
|
0.00004
|
|
NM_005055.5(RAPSN):c.1090G>A (p.Gly364Ser)
|
rs372865599
|
0.00004
|
|
NM_005055.5(RAPSN):c.1126C>T (p.Arg376Trp)
|
rs145507075
|
0.00004
|
|
NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp)
|
rs201725858
|
0.00004
|
|
NM_005055.5(RAPSN):c.661C>T (p.Arg221Cys)
|
rs769989407
|
0.00004
|
|
NM_005055.5(RAPSN):c.667G>A (p.Gly223Ser)
|
rs138863694
|
0.00004
|
|
NM_005055.5(RAPSN):c.814G>A (p.Ala272Thr)
|
rs771749514
|
0.00004
|
|
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)
|
rs104894293
|
0.00004
|
|
NM_005055.5(RAPSN):c.889G>A (p.Val297Met)
|
rs369570812
|
0.00004
|
|
NM_005236.3(ERCC4):c.1648C>T (p.Pro550Ser)
|
rs139197943
|
0.00004
|
|
NM_005236.3(ERCC4):c.1746C>G (p.Asp582Glu)
|
rs775278986
|
0.00004
|
|
NM_005236.3(ERCC4):c.2009G>A (p.Arg670Gln)
|
rs56129764
|
0.00004
|
|
NM_005236.3(ERCC4):c.2016C>T (p.Ala672=)
|
rs775414253
|
0.00004
|
|
NM_005236.3(ERCC4):c.2156C>A (p.Thr719Asn)
|
rs779096061
|
0.00004
|
|
NM_005236.3(ERCC4):c.2219G>A (p.Arg740His)
|
rs758565772
|
0.00004
|
|
NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly)
|
rs746576915
|
0.00004
|
|
NM_005236.3(ERCC4):c.37G>A (p.Ala13Thr)
|
rs374243778
|
0.00004
|
|
NM_005236.3(ERCC4):c.799C>T (p.Arg267Cys)
|
rs373570729
|
0.00004
|
|
NM_005236.3(ERCC4):c.8C>T (p.Ser3Leu)
|
rs148904556
|
0.00004
|
|
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr)
|
rs762052950
|
0.00004
|
|
NM_005592.4(MUSK):c.1100G>A (p.Arg367Gln)
|
rs1038479586
|
0.00004
|
|
NM_005592.4(MUSK):c.2539C>A (p.Pro847Thr)
|
rs760757288
|
0.00004
|
|
NM_005592.4(MUSK):c.647G>A (p.Arg216Gln)
|
rs188464904
|
0.00004
|
|
NM_005592.4(MUSK):c.916T>C (p.Trp306Arg)
|
rs1319203200
|
0.00004
|
|
NM_006265.3(RAD21):c.640C>G (p.Gln214Glu)
|
rs767342502
|
0.00004
|
|
NM_006265.3(RAD21):c.892C>G (p.Pro298Ala)
|
rs148308569
|
0.00004
|
|
NM_006306.4(SMC1A):c.3186C>G (p.Ile1062Met)
|
rs372307204
|
0.00004
|
|
NM_006306.4(SMC1A):c.458C>T (p.Ala153Val)
|
rs1171109209
|
0.00004
|
|
NM_012243.3(SLC35A3):c.748C>T (p.Leu250Phe)
|
rs137902416
|
0.00004
|
|
NM_013352.4(DSE):c.215C>T (p.Thr72Met)
|
rs201564300
|
0.00004
|
|
NM_013352.4(DSE):c.2242C>T (p.His748Tyr)
|
rs770096528
|
0.00004
|
|
NM_013352.4(DSE):c.2344G>T (p.Asp782Tyr)
|
rs140764351
|
0.00004
|
|
NM_013352.4(DSE):c.2729C>G (p.Ala910Gly)
|
rs377694163
|
0.00004
|
|
NM_013352.4(DSE):c.95T>C (p.Met32Thr)
|
rs140765634
|
0.00004
|
|
NM_014918.5(CHSY1):c.697C>T (p.Arg233Trp)
|
rs758494719
|
0.00004
|
|
NM_016277.5(RAB23):c.670A>T (p.Thr224Ser)
|
rs748638791
|
0.00004
|
|
NM_017617.5(NOTCH1):c.1904-3C>A
|
rs748118679
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2207+6C>T
|
rs545872006
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2353G>A (p.Gly785Ser)
|
rs764191723
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser)
|
rs1226514285
|
0.00004
|
|
NM_017617.5(NOTCH1):c.773T>C (p.Ile258Thr)
|
rs1217015143
|
0.00004
|
|
NM_018062.4(FANCL):c.1050G>T (p.Gln350His)
|
rs760542163
|
0.00004
|
|
NM_018062.4(FANCL):c.1052G>A (p.Ser351Asn)
|
rs145260146
|
0.00004
|
|
NM_018062.4(FANCL):c.208G>A (p.Val70Ile)
|
rs758754024
|
0.00004
|
|
NM_018062.4(FANCL):c.392C>T (p.Thr131Ile)
|
rs371154063
|
0.00004
|
|
NM_018062.4(FANCL):c.493T>G (p.Tyr165Asp)
|
rs201084086
|
0.00004
|
|
NM_018062.4(FANCL):c.622G>A (p.Asp208Asn)
|
rs199564543
|
0.00004
|
|
NM_020436.5(SALL4):c.202C>T (p.Arg68Trp)
|
rs202087308
|
0.00004
|
|
NM_020436.5(SALL4):c.203G>A (p.Arg68Gln)
|
rs773046204
|
0.00004
|
|
NM_020436.5(SALL4):c.3080T>G (p.Val1027Gly)
|
rs373111608
|
0.00004
|
|
NM_020937.4(FANCM):c.1192C>T (p.Arg398Trp)
|
rs752364451
|
0.00004
|
|
NM_020937.4(FANCM):c.1373T>C (p.Ile458Thr)
|
rs201596252
|
0.00004
|
|
NM_020937.4(FANCM):c.1528G>A (p.Gly510Ser)
|
rs146291619
|
0.00004
|
|
NM_020937.4(FANCM):c.1960C>T (p.Arg654Trp)
|
rs112784867
|
0.00004
|
|
NM_020937.4(FANCM):c.2017A>C (p.Ser673Arg)
|
rs756249141
|
0.00004
|
|
NM_020937.4(FANCM):c.2158C>T (p.Pro720Ser)
|
rs751262177
|
0.00004
|
|
NM_020937.4(FANCM):c.2311G>A (p.Glu771Lys)
|
rs760204880
|
0.00004
|
|
NM_020937.4(FANCM):c.232T>C (p.Ser78Pro)
|
rs995677452
|
0.00004
|
|
NM_020937.4(FANCM):c.3083A>T (p.His1028Leu)
|
rs774142261
|
0.00004
|
|
NM_020937.4(FANCM):c.3104C>A (p.Thr1035Asn)
|
rs1411559650
|
0.00004
|
|
NM_020937.4(FANCM):c.3147A>C (p.Leu1049Phe)
|
rs147299864
|
0.00004
|
|
NM_020937.4(FANCM):c.3433G>A (p.Asp1145Asn)
|
rs753249049
|
0.00004
|
|
NM_020937.4(FANCM):c.3473C>T (p.Ser1158Phe)
|
rs952413457
|
0.00004
|
|
NM_020937.4(FANCM):c.3827C>T (p.Ser1276Leu)
|
rs753876341
|
0.00004
|
|
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr)
|
rs771311008
|
0.00004
|
|
NM_020937.4(FANCM):c.4222+5G>A
|
rs201544504
|
0.00004
|
|
NM_020937.4(FANCM):c.4406A>G (p.Asp1469Gly)
|
rs368457419
|
0.00004
|
|
NM_020937.4(FANCM):c.4820G>A (p.Cys1607Tyr)
|
rs769869730
|
0.00004
|
|
NM_020937.4(FANCM):c.486A>C (p.Gln162His)
|
rs149517732
|
0.00004
|
|
NM_020937.4(FANCM):c.496G>A (p.Ala166Thr)
|
rs369365858
|
0.00004
|
|
NM_020937.4(FANCM):c.5117A>C (p.Asn1706Thr)
|
rs767619000
|
0.00004
|
|
NM_020937.4(FANCM):c.5545C>A (p.Pro1849Thr)
|
rs1359477676
|
0.00004
|
|
NM_020937.4(FANCM):c.685G>T (p.Val229Leu)
|
rs572322789
|
0.00004
|
|
NM_020937.4(FANCM):c.875C>T (p.Pro292Leu)
|
rs781381334
|
0.00004
|
|
NM_021922.3(FANCE):c.1027C>T (p.Arg343Trp)
|
rs567313440
|
0.00004
|
|
NM_021922.3(FANCE):c.133G>C (p.Gly45Arg)
|
rs996436646
|
0.00004
|
|
NM_021922.3(FANCE):c.869G>A (p.Arg290Lys)
|
rs747078723
|
0.00004
|
|
NM_021922.3(FANCE):c.952G>A (p.Glu318Lys)
|
rs754914337
|
0.00004
|
|
NM_021922.3(FANCE):c.960T>A (p.Ser320Arg)
|
rs201528578
|
0.00004
|
|
NM_021922.3(FANCE):c.983G>C (p.Cys328Ser)
|
rs372935921
|
0.00004
|
|
NM_022725.4(FANCF):c.1048C>T (p.Leu350Phe)
|
rs368170054
|
0.00004
|
|
NM_022725.4(FANCF):c.446A>G (p.Asn149Ser)
|
rs377309460
|
0.00004
|
|
NM_022725.4(FANCF):c.559A>G (p.Arg187Gly)
|
rs540547787
|
0.00004
|
|
NM_022725.4(FANCF):c.796C>T (p.Arg266Cys)
|
rs145666363
|
0.00004
|
|
NM_023110.3(FGFR1):c.1477G>A (p.Val493Met)
|
rs752601407
|
0.00004
|
|
NM_023110.3(FGFR1):c.566G>A (p.Arg189His)
|
rs778166317
|
0.00004
|
|
NM_023110.3(FGFR1):c.742G>A (p.Val248Met)
|
rs186746130
|
0.00004
|
|
NM_032043.3(BRIP1):c.1000G>A (p.Ala334Thr)
|
rs535414791
|
0.00004
|
|
NM_032043.3(BRIP1):c.1090A>T (p.Ile364Phe)
|
rs770306753
|
0.00004
|
|
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp)
|
rs369631413
|
0.00004
|
|
NM_032043.3(BRIP1):c.1220G>A (p.Ser407Asn)
|
rs759835916
|
0.00004
|
|
NM_032043.3(BRIP1):c.1655T>C (p.Ile552Thr)
|
rs369340666
|
0.00004
|
|
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile)
|
rs777741543
|
0.00004
|
|
NM_032043.3(BRIP1):c.2189G>A (p.Gly730Glu)
|
rs748616469
|
0.00004
|
|
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys)
|
rs146031731
|
0.00004
|
|
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp)
|
rs578022079
|
0.00004
|
|
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His)
|
rs367816363
|
0.00004
|
|
NM_032043.3(BRIP1):c.3224C>T (p.Ser1075Leu)
|
rs183928474
|
0.00004
|
|
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala)
|
rs372799558
|
0.00004
|
|
NM_032043.3(BRIP1):c.380A>G (p.Asp127Gly)
|
rs1170174893
|
0.00004
|
|
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala)
|
rs202072866
|
0.00004
|
|
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe)
|
rs533184563
|
0.00004
|
|
NM_032444.4(SLX4):c.1163+3A>G
|
rs765509115
|
0.00004
|
|
NM_032444.4(SLX4):c.1216G>C (p.Glu406Gln)
|
rs779596439
|
0.00004
|
|
NM_032444.4(SLX4):c.1271C>T (p.Ala424Val)
|
rs551823420
|
0.00004
|
|
NM_032444.4(SLX4):c.1583G>A (p.Ser528Asn)
|
rs752899329
|
0.00004
|
|
NM_032444.4(SLX4):c.1846G>A (p.Val616Met)
|
rs199863797
|
0.00004
|
|
NM_032444.4(SLX4):c.1873G>A (p.Ala625Thr)
|
rs200755122
|
0.00004
|
|
NM_032444.4(SLX4):c.1888G>A (p.Gly630Ser)
|
rs376620029
|
0.00004
|
|
NM_032444.4(SLX4):c.2023G>A (p.Gly675Arg)
|
rs767473953
|
0.00004
|
|
NM_032444.4(SLX4):c.2623G>A (p.Glu875Lys)
|
rs372976873
|
0.00004
|
|
NM_032444.4(SLX4):c.2864A>G (p.His955Arg)
|
rs143694260
|
0.00004
|
|
NM_032444.4(SLX4):c.3009G>C (p.Glu1003Asp)
|
rs142047326
|
0.00004
|
|
NM_032444.4(SLX4):c.3190G>A (p.Gly1064Arg)
|
rs142079276
|
0.00004
|
|
NM_032444.4(SLX4):c.3235C>T (p.Pro1079Ser)
|
rs373231418
|
0.00004
|
|
NM_032444.4(SLX4):c.3310C>T (p.Arg1104Trp)
|
rs752187463
|
0.00004
|
|
NM_032444.4(SLX4):c.3439G>A (p.Glu1147Lys)
|
rs974413437
|
0.00004
|
|
NM_032444.4(SLX4):c.3622C>G (p.Pro1208Ala)
|
rs752941190
|
0.00004
|
|
NM_032444.4(SLX4):c.3668C>T (p.Pro1223Leu)
|
rs376133540
|
0.00004
|
|
NM_032444.4(SLX4):c.3746G>A (p.Ser1249Asn)
|
rs372991604
|
0.00004
|
|
NM_032444.4(SLX4):c.3781C>T (p.Pro1261Ser)
|
rs141860134
|
0.00004
|
|
NM_032444.4(SLX4):c.3850G>A (p.Val1284Met)
|
rs373107728
|
0.00004
|
|
NM_032444.4(SLX4):c.3950C>T (p.Pro1317Leu)
|
rs375172024
|
0.00004
|
|
NM_032444.4(SLX4):c.4034G>A (p.Arg1345His)
|
rs757202686
|
0.00004
|
|
NM_032444.4(SLX4):c.4097G>A (p.Arg1366His)
|
rs375108717
|
0.00004
|
|
NM_032444.4(SLX4):c.4109G>A (p.Ser1370Asn)
|
rs747599109
|
0.00004
|
|
NM_032444.4(SLX4):c.4133C>T (p.Pro1378Leu)
|
rs371580654
|
0.00004
|
|
NM_032444.4(SLX4):c.4157A>G (p.Gln1386Arg)
|
rs774060802
|
0.00004
|
|
NM_032444.4(SLX4):c.4267A>G (p.Ile1423Val)
|
rs953994627
|
0.00004
|
|
NM_032444.4(SLX4):c.4268T>C (p.Ile1423Thr)
|
rs1056055996
|
0.00004
|
|
NM_032444.4(SLX4):c.4301C>T (p.Ser1434Leu)
|
rs776332160
|
0.00004
|
|
NM_032444.4(SLX4):c.4390A>G (p.Ser1464Gly)
|
rs750635051
|
0.00004
|
|
NM_032444.4(SLX4):c.4394G>A (p.Arg1465His)
|
rs757128699
|
0.00004
|
|
NM_032444.4(SLX4):c.4429C>T (p.Pro1477Ser)
|
rs912385590
|
0.00004
|
|
NM_032444.4(SLX4):c.4765C>T (p.Arg1589Cys)
|
rs181782315
|
0.00004
|
|
NM_032444.4(SLX4):c.4871C>T (p.Pro1624Leu)
|
rs751763192
|
0.00004
|
|
NM_032444.4(SLX4):c.4964G>A (p.Arg1655Lys)
|
rs149726415
|
0.00004
|
|
NM_032444.4(SLX4):c.499G>A (p.Glu167Lys)
|
rs151018140
|
0.00004
|
|
NM_032444.4(SLX4):c.5141T>G (p.Leu1714Trp)
|
rs569861974
|
0.00004
|
|
NM_032444.4(SLX4):c.5177C>T (p.Ala1726Val)
|
rs752633436
|
0.00004
|
|
NM_032444.4(SLX4):c.5291C>T (p.Pro1764Leu)
|
rs1031274414
|
0.00004
|
|
NM_032444.4(SLX4):c.5336G>A (p.Arg1779Gln)
|
rs780261532
|
0.00004
|
|
NM_032444.4(SLX4):c.5404G>A (p.Asp1802Asn)
|
rs760435859
|
0.00004
|
|
NM_032444.4(SLX4):c.734C>T (p.Pro245Leu)
|
rs199929086
|
0.00004
|
|
NM_032444.4(SLX4):c.800C>T (p.Ala267Val)
|
rs752160984
|
0.00004
|
|
NM_032444.4(SLX4):c.950+3G>T
|
rs748822509
|
0.00004
|
|
NM_032634.3(PIGO):c.3069+5G>A
|
rs368953604
|
0.00004
|
|
NM_032634.4(PIGO):c.1298G>A (p.Arg433Gln)
|
rs201911029
|
0.00004
|
|
NM_032634.4(PIGO):c.1456C>T (p.Pro486Ser)
|
rs766397462
|
0.00004
|
|
NM_032634.4(PIGO):c.1487C>T (p.Ala496Val)
|
rs763688561
|
0.00004
|
|
NM_032634.4(PIGO):c.1810C>T (p.Arg604Cys)
|
rs368997214
|
0.00004
|
|
NM_032634.4(PIGO):c.1841C>T (p.Pro614Leu)
|
rs749184960
|
0.00004
|
|
NM_032634.4(PIGO):c.1843C>T (p.Arg615Trp)
|
rs375787674
|
0.00004
|
|
NM_032634.4(PIGO):c.2053C>T (p.Arg685Cys)
|
rs138547909
|
0.00004
|
|
NM_032634.4(PIGO):c.2522C>T (p.Thr841Ile)
|
rs371089504
|
0.00004
|
|
NM_032634.4(PIGO):c.2807C>G (p.Ala936Gly)
|
rs375724131
|
0.00004
|
|
NM_032634.4(PIGO):c.2839C>T (p.His947Tyr)
|
rs769624406
|
0.00004
|
|
NM_032634.4(PIGO):c.2989C>T (p.Arg997Trp)
|
rs773926580
|
0.00004
|
|
NM_032634.4(PIGO):c.3002C>T (p.Ala1001Val)
|
rs149391665
|
0.00004
|
|
NM_032634.4(PIGO):c.3104G>A (p.Arg1035His)
|
rs763001837
|
0.00004
|
|
NM_032634.4(PIGO):c.3230G>C (p.Ser1077Thr)
|
rs150257961
|
0.00004
|
|
NM_032634.4(PIGO):c.325A>T (p.Arg109Trp)
|
rs144631345
|
0.00004
|
|
NM_032634.4(PIGO):c.339T>G (p.Ile113Met)
|
rs370330559
|
0.00004
|
|
NM_032634.4(PIGO):c.34T>C (p.Trp12Arg)
|
rs779967894
|
0.00004
|
|
NM_032634.4(PIGO):c.365G>A (p.Arg122Gln)
|
rs756043994
|
0.00004
|
|
NM_032634.4(PIGO):c.401G>A (p.Arg134His)
|
rs754686515
|
0.00004
|
|
NM_032634.4(PIGO):c.575A>G (p.Lys192Arg)
|
rs138004232
|
0.00004
|
|
NM_058216.3(RAD51C):c.34C>T (p.Arg12Trp)
|
rs28910276
|
0.00004
|
|
NM_058216.3(RAD51C):c.52C>T (p.Pro18Ser)
|
rs547142453
|
0.00004
|
|
NM_058216.3(RAD51C):c.635G>A (p.Arg212His)
|
rs200857129
|
0.00004
|
|
NM_058216.3(RAD51C):c.721G>A (p.Val241Met)
|
rs184033132
|
0.00004
|
|
NM_058216.3(RAD51C):c.883G>A (p.Ala295Thr)
|
rs746571208
|
0.00004
|
|
NM_058216.3(RAD51C):c.956G>A (p.Arg319Gln)
|
rs367846829
|
0.00004
|
|
NM_130468.4(CHST14):c.11G>C (p.Arg4Pro)
|
rs1352733612
|
0.00004
|
|
NM_130468.4(CHST14):c.283C>T (p.Leu95Phe)
|
rs755535418
|
0.00004
|
|
NM_130468.4(CHST14):c.400C>T (p.Arg134Trp)
|
rs368203130
|
0.00004
|
|
NM_130468.4(CHST14):c.869C>T (p.Ala290Val)
|
rs763074027
|
0.00004
|
|
NM_130468.4(CHST14):c.933G>C (p.Glu311Asp)
|
rs927457735
|
0.00004
|
|
NM_133433.4(NIPBL):c.1847G>A (p.Ser616Asn)
|
rs371073215
|
0.00004
|
|
NM_133433.4(NIPBL):c.2774A>G (p.Lys925Arg)
|
rs1198125549
|
0.00004
|
|
NM_133433.4(NIPBL):c.2926A>G (p.Met976Val)
|
rs749926228
|
0.00004
|
|
NM_133433.4(NIPBL):c.310C>G (p.Pro104Ala)
|
rs772009624
|
0.00004
|
|
NM_133433.4(NIPBL):c.5051C>A (p.Thr1684Lys)
|
rs774109272
|
0.00004
|
|
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys)
|
rs587784058
|
0.00004
|
|
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg)
|
rs369076839
|
0.00004
|
|
NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln)
|
rs573448772
|
0.00004
|
|
NM_147127.5(EVC2):c.3482C>T (p.Ser1161Leu)
|
rs145071652
|
0.00004
|
|
NM_147127.5(EVC2):c.983G>A (p.Gly328Glu)
|
rs370838180
|
0.00004
|
|
NM_147127.5(EVC2):c.986A>G (p.Asn329Ser)
|
rs368314615
|
0.00004
|
|
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn)
|
rs150923920
|
0.00004
|
|
NM_153717.3(EVC):c.1825C>T (p.Arg609Trp)
|
rs748220728
|
0.00004
|
|
NM_153717.3(EVC):c.455C>T (p.Pro152Leu)
|
rs371671127
|
0.00004
|
|
NM_153717.3(EVC):c.580C>T (p.Arg194Trp)
|
rs757990300
|
0.00004
|
|
NM_173660.5(DOK7):c.1138G>T (p.Ala380Ser)
|
rs760412846
|
0.00004
|
|
NM_173660.5(DOK7):c.1318G>A (p.Ala440Thr)
|
rs753026831
|
0.00004
|
|
NM_173660.5(DOK7):c.1384A>G (p.Ser462Gly)
|
rs771017173
|
0.00004
|
|
NM_173660.5(DOK7):c.308G>A (p.Arg103Gln)
|
rs377554325
|
0.00004
|
|
NM_173660.5(DOK7):c.541G>A (p.Val181Ile)
|
rs146076204
|
0.00004
|
|
NM_173660.5(DOK7):c.730C>T (p.Arg244Trp)
|
rs140544446
|
0.00004
|
|
NM_173660.5(DOK7):c.797C>T (p.Ser266Leu)
|
rs763936252
|
0.00004
|
|
NM_173660.5(DOK7):c.866C>T (p.Ser289Leu)
|
rs748566350
|
0.00004
|
|
NM_173660.5(DOK7):c.880A>G (p.Thr294Ala)
|
rs143821601
|
0.00004
|
|
NM_173660.5(DOK7):c.952C>A (p.Pro318Thr)
|
rs754476094
|
0.00004
|
|
NM_000079.4(CHRNA1):c.1088C>T (p.Thr363Ile)
|
rs146771663
|
0.00003
|
|
NM_000079.4(CHRNA1):c.1242T>G (p.Asn414Lys)
|
rs199545638
|
0.00003
|
|
NM_000079.4(CHRNA1):c.1A>G (p.Met1Val)
|
rs146464862
|
0.00003
|
|
NM_000079.4(CHRNA1):c.410C>T (p.Thr137Met)
|
rs780391418
|
0.00003
|
|
NM_000079.4(CHRNA1):c.488G>C (p.Ser163Thr)
|
rs375645058
|
0.00003
|
|
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val)
|
rs142620413
|
0.00003
|
|
NM_000135.4(FANCA):c.1048C>T (p.Arg350Trp)
|
rs150290184
|
0.00003
|
|
NM_000135.4(FANCA):c.1072C>G (p.Leu358Val)
|
rs748337423
|
0.00003
|
|
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg)
|
rs768676657
|
0.00003
|
|
NM_000135.4(FANCA):c.1543A>C (p.Lys515Gln)
|
rs1355805026
|
0.00003
|
|
NM_000135.4(FANCA):c.1574T>C (p.Ile525Thr)
|
rs752323052
|
0.00003
|
|
NM_000135.4(FANCA):c.1738G>A (p.Val580Met)
|
rs769158149
|
0.00003
|
|
NM_000135.4(FANCA):c.178C>T (p.Leu60Phe)
|
rs1060501885
|
0.00003
|
|
NM_000135.4(FANCA):c.1994C>G (p.Thr665Arg)
|
rs1481598103
|
0.00003
|
|
NM_000135.4(FANCA):c.2171C>T (p.Thr724Met)
|
rs777032467
|
0.00003
|
|
NM_000135.4(FANCA):c.2308C>T (p.Arg770Cys)
|
rs1354855145
|
0.00003
|
|
NM_000135.4(FANCA):c.2447C>T (p.Ala816Val)
|
rs756082739
|
0.00003
|
|
NM_000135.4(FANCA):c.2851C>A (p.Arg951=)
|
rs755546887
|
0.00003
|
|
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala)
|
rs587778317
|
0.00003
|
|
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln)
|
rs750421982
|
0.00003
|
|
NM_000135.4(FANCA):c.301C>G (p.Gln101Glu)
|
rs140412064
|
0.00003
|
|
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg)
|
rs142379991
|
0.00003
|
|
NM_000135.4(FANCA):c.3251G>A (p.Arg1084His)
|
rs752642945
|
0.00003
|
|
NM_000135.4(FANCA):c.3359G>C (p.Cys1120Ser)
|
rs370731587
|
0.00003
|
|
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His)
|
rs768851109
|
0.00003
|
|
NM_000135.4(FANCA):c.344G>A (p.Gly115Glu)
|
rs748263867
|
0.00003
|
|
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val)
|
rs750773229
|
0.00003
|
|
NM_000135.4(FANCA):c.385G>T (p.Ala129Ser)
|
rs374945563
|
0.00003
|
|
NM_000135.4(FANCA):c.4000G>A (p.Ala1334Thr)
|
rs925649874
|
0.00003
|
|
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile)
|
rs1254151716
|
0.00003
|
|
NM_000135.4(FANCA):c.81G>A (p.Ala27=)
|
rs150247726
|
0.00003
|
|
NM_000136.3(FANCC):c.1262C>G (p.Ala421Gly)
|
rs863224608
|
0.00003
|
|
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys)
|
rs374836770
|
0.00003
|
|
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser)
|
rs730881724
|
0.00003
|
|
NM_000136.3(FANCC):c.146A>G (p.Tyr49Cys)
|
rs761845692
|
0.00003
|
|
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys)
|
rs55939573
|
0.00003
|
|
NM_000136.3(FANCC):c.1643G>A (p.Arg548Gln)
|
rs730881729
|
0.00003
|
|
NM_000136.3(FANCC):c.191T>G (p.Phe64Cys)
|
rs375921240
|
0.00003
|
|
NM_000136.3(FANCC):c.338G>C (p.Trp113Ser)
|
rs1064793405
|
0.00003
|
|
NM_000136.3(FANCC):c.46A>T (p.Met16Leu)
|
rs1390412870
|
0.00003
|
|
NM_000136.3(FANCC):c.521G>A (p.Arg174Gln)
|
rs755283850
|
0.00003
|
|
NM_000136.3(FANCC):c.734G>A (p.Arg245Gln)
|
rs889715188
|
0.00003
|
|
NM_000136.3(FANCC):c.830A>T (p.Lys277Ile)
|
rs1349398241
|
0.00003
|
|
NM_000136.3(FANCC):c.902C>A (p.Ala301Glu)
|
rs553689536
|
0.00003
|
|
NM_000136.3(FANCC):c.990C>G (p.Ser330Arg)
|
rs374915316
|
0.00003
|
|
NM_000751.3(CHRND):c.1100A>G (p.Asp367Gly)
|
rs770099656
|
0.00003
|
|
NM_000751.3(CHRND):c.1220G>A (p.Arg407Gln)
|
rs563035306
|
0.00003
|
|
NM_000751.3(CHRND):c.1255C>T (p.Arg419Trp)
|
rs140455307
|
0.00003
|
|
NM_000751.3(CHRND):c.178C>A (p.Leu60Ile)
|
rs200743096
|
0.00003
|
|
NM_000751.3(CHRND):c.646C>T (p.Arg216Trp)
|
rs777271963
|
0.00003
|
|
NM_001018113.3(FANCB):c.1267T>C (p.Tyr423His)
|
rs776805534
|
0.00003
|
|
NM_001018113.3(FANCB):c.677T>C (p.Ile226Thr)
|
rs1275915380
|
0.00003
|
|
NM_001018113.3(FANCB):c.76C>G (p.Gln26Glu)
|
rs1316961996
|
0.00003
|
|
NM_001018115.3(FANCD2):c.1011C>A (p.Ser337Arg)
|
rs748171507
|
0.00003
|
|
NM_001018115.3(FANCD2):c.1234A>G (p.Ile412Val)
|
rs776482951
|
0.00003
|
|
NM_001018115.3(FANCD2):c.144T>A (p.Phe48Leu)
|
rs750534583
|
0.00003
|
|
NM_001018115.3(FANCD2):c.172A>G (p.Ile58Val)
|
rs766098612
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2012T>G (p.Val671Gly)
|
rs373337896
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2116C>G (p.Gln706Glu)
|
rs147532349
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2372A>G (p.Asn791Ser)
|
rs758718558
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2942C>T (p.Thr981Ile)
|
rs1468736218
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala)
|
rs200568638
|
0.00003
|
|
NM_001018115.3(FANCD2):c.3047T>A (p.Val1016Asp)
|
rs767860064
|
0.00003
|
|
NM_001018115.3(FANCD2):c.3209A>T (p.His1070Leu)
|
rs759516610
|
0.00003
|
|
NM_001018115.3(FANCD2):c.3419T>G (p.Val1140Gly)
|
rs781064333
|
0.00003
|
|
NM_001018115.3(FANCD2):c.3524G>A (p.Ser1175Asn)
|
rs151316403
|
0.00003
|
|
NM_001018115.3(FANCD2):c.3973C>A (p.Leu1325Met)
|
rs555539811
|
0.00003
|
|
NM_001018115.3(FANCD2):c.4214A>T (p.Gln1405Leu)
|
rs746871581
|
0.00003
|
|
NM_001018115.3(FANCD2):c.571-3C>T
|
rs191386799
|
0.00003
|
|
NM_001018115.3(FANCD2):c.817A>G (p.Ile273Val)
|
rs770985541
|
0.00003
|
|
NM_001018115.3(FANCD2):c.865G>A (p.Val289Ile)
|
rs371273577
|
0.00003
|
|
NM_001113378.2(FANCI):c.1102G>A (p.Val368Met)
|
rs1060501897
|
0.00003
|
|
NM_001113378.2(FANCI):c.1418T>G (p.Val473Gly)
|
rs200007225
|
0.00003
|
|
NM_001113378.2(FANCI):c.1743A>C (p.Glu581Asp)
|
rs779310267
|
0.00003
|
|
NM_001113378.2(FANCI):c.196C>T (p.Arg66Cys)
|
rs143105092
|
0.00003
|
|
NM_001113378.2(FANCI):c.2200A>G (p.Ser734Gly)
|
rs780147810
|
0.00003
|
|
NM_001113378.2(FANCI):c.2328G>A (p.Met776Ile)
|
rs781175970
|
0.00003
|
|
NM_001113378.2(FANCI):c.2504G>A (p.Ser835Asn)
|
rs778626493
|
0.00003
|
|
NM_001113378.2(FANCI):c.2519G>A (p.Arg840His)
|
rs777483611
|
0.00003
|
|
NM_001113378.2(FANCI):c.2627A>G (p.Asp876Gly)
|
rs545673916
|
0.00003
|
|
NM_001113378.2(FANCI):c.2781T>G (p.Ile927Met)
|
rs771106622
|
0.00003
|
|
NM_001113378.2(FANCI):c.284T>A (p.Leu95Gln)
|
rs201553891
|
0.00003
|
|
NM_001113378.2(FANCI):c.2936G>T (p.Ser979Ile)
|
rs769453869
|
0.00003
|
|
NM_001113378.2(FANCI):c.3053G>A (p.Ser1018Asn)
|
rs773696866
|
0.00003
|
|
NM_001113378.2(FANCI):c.3093G>C (p.Leu1031Phe)
|
rs546822799
|
0.00003
|
|
NM_001113378.2(FANCI):c.3116A>G (p.Tyr1039Cys)
|
rs138702591
|
0.00003
|
|
NM_001113378.2(FANCI):c.3186+3A>G
|
rs371788349
|
0.00003
|
|
NM_001113378.2(FANCI):c.3241G>A (p.Ala1081Thr)
|
rs375746069
|
0.00003
|
|
NM_001113378.2(FANCI):c.326C>G (p.Ala109Gly)
|
rs772968604
|
0.00003
|
|
NM_001113378.2(FANCI):c.3271C>G (p.Gln1091Glu)
|
rs578060150
|
0.00003
|
|
NM_001113378.2(FANCI):c.3812C>T (p.Ser1271Phe)
|
rs202066338
|
0.00003
|
|
NM_001113378.2(FANCI):c.3817-12A>G
|
rs545402956
|
0.00003
|
|
NM_001113378.2(FANCI):c.3835A>G (p.Met1279Val)
|
rs778056909
|
0.00003
|
|
NM_001113378.2(FANCI):c.3868A>G (p.Lys1290Glu)
|
rs374908061
|
0.00003
|
|
NM_001113378.2(FANCI):c.3886A>G (p.Met1296Val)
|
rs765052471
|
0.00003
|
|
NM_001113378.2(FANCI):c.3946G>A (p.Gly1316Arg)
|
rs369058619
|
0.00003
|
|
NM_001113378.2(FANCI):c.488C>A (p.Thr163Asn)
|
rs574154974
|
0.00003
|
|
NM_001113378.2(FANCI):c.601A>G (p.Met201Val)
|
rs774564150
|
0.00003
|
|
NM_001271938.2(MEGF8):c.1057C>T (p.Arg353Cys)
|
rs554274233
|
0.00003
|
|
NM_001271938.2(MEGF8):c.2632G>A (p.Gly878Arg)
|
rs754432292
|
0.00003
|
|
NM_001271938.2(MEGF8):c.326C>T (p.Pro109Leu)
|
rs768036287
|
0.00003
|
|
NM_001271938.2(MEGF8):c.5411C>T (p.Ser1804Leu)
|
rs757227265
|
0.00003
|
|
NM_001271938.2(MEGF8):c.5785C>T (p.Arg1929Trp)
|
rs529688057
|
0.00003
|
|
NM_001271938.2(MEGF8):c.5858G>A (p.Arg1953His)
|
rs771233244
|
0.00003
|
|
NM_001271938.2(MEGF8):c.7400G>A (p.Arg2467His)
|
rs757739507
|
0.00003
|
|
NM_001271938.2(MEGF8):c.8487G>A (p.Ala2829=)
|
rs773571688
|
0.00003
|
|
NM_001278689.2(EOGT):c.1114C>T (p.Arg372Trp)
|
rs186870285
|
0.00003
|
|
NM_001278689.2(EOGT):c.1355G>A (p.Arg452His)
|
rs193201126
|
0.00003
|
|
NM_001346754.2(PIGW):c.152C>T (p.Pro51Leu)
|
rs112443711
|
0.00003
|
|
NM_001346754.2(PIGW):c.431T>G (p.Ile144Ser)
|
rs754061279
|
0.00003
|
|
NM_001346754.2(PIGW):c.647G>A (p.Arg216Gln)
|
rs764219730
|
0.00003
|
|
NM_001374353.1(GLI2):c.1121G>A (p.Arg374His)
|
rs370220133
|
0.00003
|
|
NM_001374353.1(GLI2):c.2107C>T (p.Arg703Cys)
|
rs773976966
|
0.00003
|
|
NM_001374353.1(GLI2):c.2303A>T (p.Asn768Ile)
|
rs768131638
|
0.00003
|
|
NM_001374353.1(GLI2):c.2503G>A (p.Ala835Thr)
|
rs751028726
|
0.00003
|
|
NM_001374353.1(GLI2):c.677G>A (p.Arg226His)
|
rs766283583
|
0.00003
|
|
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys)
|
rs541842635
|
0.00003
|
|
NM_001999.4(FBN2):c.3670C>T (p.Gln1224Ter)
|
rs863223569
|
0.00003
|
|
NM_001999.4(FBN2):c.4495A>C (p.Asn1499His)
|
rs771260299
|
0.00003
|
|
NM_002334.4(LRP4):c.1048C>T (p.Arg350Trp)
|
rs368744612
|
0.00003
|
|
NM_002334.4(LRP4):c.1342A>G (p.Ile448Val)
|
rs761341366
|
0.00003
|
|
NM_002334.4(LRP4):c.1433G>A (p.Arg478His)
|
rs1349507715
|
0.00003
|
|
NM_002334.4(LRP4):c.1825G>A (p.Gly609Arg)
|
rs1389594811
|
0.00003
|
|
NM_002334.4(LRP4):c.1922C>T (p.Pro641Leu)
|
rs886048355
|
0.00003
|
|
NM_002334.4(LRP4):c.2639C>T (p.Ala880Val)
|
rs373683358
|
0.00003
|
|
NM_002334.4(LRP4):c.274G>A (p.Gly92Arg)
|
rs754071316
|
0.00003
|
|
NM_002334.4(LRP4):c.323G>A (p.Arg108Gln)
|
rs772332690
|
0.00003
|
|
NM_002334.4(LRP4):c.3344A>G (p.His1115Arg)
|
rs758144252
|
0.00003
|
|
NM_002334.4(LRP4):c.3428C>T (p.Thr1143Met)
|
rs751933622
|
0.00003
|
|
NM_002334.4(LRP4):c.3599C>T (p.Ser1200Leu)
|
rs749792822
|
0.00003
|
|
NM_002334.4(LRP4):c.448G>A (p.Asp150Asn)
|
rs200746048
|
0.00003
|
|
NM_002334.4(LRP4):c.4516C>T (p.Arg1506Trp)
|
rs766025454
|
0.00003
|
|
NM_002334.4(LRP4):c.4517G>A (p.Arg1506Gln)
|
rs142300637
|
0.00003
|
|
NM_002334.4(LRP4):c.4928C>T (p.Pro1643Leu)
|
rs767372563
|
0.00003
|
|
NM_002334.4(LRP4):c.5138C>T (p.Ala1713Val)
|
rs1035754612
|
0.00003
|
|
NM_002334.4(LRP4):c.825C>A (p.Phe275Leu)
|
rs772586265
|
0.00003
|
|
NM_002334.4(LRP4):c.842G>A (p.Arg281His)
|
rs146670859
|
0.00003
|
|
NM_002334.4(LRP4):c.968G>A (p.Arg323His)
|
rs745607286
|
0.00003
|
|
NM_002968.3(SALL1):c.3728A>G (p.Asn1243Ser)
|
rs535981732
|
0.00003
|
|
NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg)
|
rs376879952
|
0.00003
|
|
NM_002968.3(SALL1):c.3890T>G (p.Leu1297Arg)
|
rs767612617
|
0.00003
|
|
NM_002968.3(SALL1):c.412G>A (p.Gly138Ser)
|
rs756723612
|
0.00003
|
|
NM_003334.4(UBA1):c.1151G>A (p.Arg384Gln)
|
rs781909775
|
0.00003
|
|
NM_003334.4(UBA1):c.1226T>C (p.Val409Ala)
|
rs1556788859
|
0.00003
|
|
NM_003334.4(UBA1):c.2359G>A (p.Val787Met)
|
rs1204889932
|
0.00003
|
|
NM_003334.4(UBA1):c.2843A>G (p.Tyr948Cys)
|
rs1466232811
|
0.00003
|
|
NM_003334.4(UBA1):c.31C>T (p.Arg11Cys)
|
rs1556786387
|
0.00003
|
|
NM_003334.4(UBA1):c.436G>A (p.Ala146Thr)
|
rs781969406
|
0.00003
|
|
NM_003334.4(UBA1):c.733G>A (p.Gly245Arg)
|
rs781803482
|
0.00003
|
|
NM_004380.3(CREBBP):c.2141G>A (p.Arg714His)
|
rs141098117
|
0.00003
|
|
NM_004380.3(CREBBP):c.271G>A (p.Ala91Thr)
|
rs200673670
|
0.00003
|
|
NM_004380.3(CREBBP):c.3233C>T (p.Ser1078Leu)
|
rs942848385
|
0.00003
|
|
NM_004380.3(CREBBP):c.4213G>A (p.Val1405Met)
|
rs140133512
|
0.00003
|
|
NM_004380.3(CREBBP):c.6596A>T (p.Gln2199Leu)
|
rs765821935
|
0.00003
|
|
NM_004629.2(FANCG):c.1156C>G (p.Pro386Ala)
|
rs375757497
|
0.00003
|
|
NM_004629.2(FANCG):c.1298G>A (p.Arg433Gln)
|
rs748738986
|
0.00003
|
|
NM_004629.2(FANCG):c.1441G>C (p.Glu481Gln)
|
rs772460728
|
0.00003
|
|
NM_004629.2(FANCG):c.1459A>C (p.Thr487Pro)
|
rs1414696119
|
0.00003
|
|
NM_004629.2(FANCG):c.1718G>C (p.Arg573Thr)
|
rs200466062
|
0.00003
|
|
NM_004629.2(FANCG):c.1768C>G (p.Pro590Ala)
|
rs541868979
|
0.00003
|
|
NM_004629.2(FANCG):c.1805C>A (p.Pro602His)
|
rs370950631
|
0.00003
|
|
NM_004629.2(FANCG):c.181C>T (p.Pro61Ser)
|
rs931163229
|
0.00003
|
|
NM_004629.2(FANCG):c.380G>A (p.Arg127His)
|
rs780985218
|
0.00003
|
|
NM_004629.2(FANCG):c.398C>T (p.Pro133Leu)
|
rs1270561172
|
0.00003
|
|
NM_004629.2(FANCG):c.730G>A (p.Val244Met)
|
rs746248064
|
0.00003
|
|
NM_004629.2(FANCG):c.934G>A (p.Val312Ile)
|
rs530535955
|
0.00003
|
|
NM_005055.5(RAPSN):c.1180A>C (p.Asn394His)
|
rs762532220
|
0.00003
|
|
NM_005055.5(RAPSN):c.124C>T (p.Arg42Cys)
|
rs201197735
|
0.00003
|
|
NM_005055.5(RAPSN):c.196G>A (p.Ala66Thr)
|
rs145197671
|
0.00003
|
|
NM_005055.5(RAPSN):c.265C>G (p.Leu89Val)
|
rs543224303
|
0.00003
|
|
NM_005055.5(RAPSN):c.706G>A (p.Ala236Thr)
|
rs545915312
|
0.00003
|
|
NM_005055.5(RAPSN):c.725G>A (p.Arg242Gln)
|
rs780963721
|
0.00003
|
|
NM_005055.5(RAPSN):c.808G>A (p.Asp270Asn)
|
rs768011436
|
0.00003
|
|
NM_005055.5(RAPSN):c.822C>A (p.Ser274Arg)
|
rs778371396
|
0.00003
|
|
NM_005055.5(RAPSN):c.863C>T (p.Ala288Val)
|
rs760068830
|
0.00003
|
|
NM_005236.3(ERCC4):c.109C>T (p.Arg37Cys)
|
rs144602005
|
0.00003
|
|
NM_005236.3(ERCC4):c.1577C>T (p.Pro526Leu)
|
rs149056863
|
0.00003
|
|
NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser)
|
rs369471816
|
0.00003
|
|
NM_005236.3(ERCC4):c.2102G>A (p.Arg701His)
|
rs762543560
|
0.00003
|
|
NM_005236.3(ERCC4):c.2105G>A (p.Arg702Gln)
|
rs144058769
|
0.00003
|
|
NM_005236.3(ERCC4):c.2295G>T (p.Lys765Asn)
|
rs1567253853
|
0.00003
|
|
NM_005236.3(ERCC4):c.2477C>T (p.Ala826Val)
|
rs141790888
|
0.00003
|
|
NM_005236.3(ERCC4):c.2591G>A (p.Arg864His)
|
rs1211543560
|
0.00003
|
|
NM_005236.3(ERCC4):c.286A>C (p.Ser96Arg)
|
rs775257742
|
0.00003
|
|
NM_005236.3(ERCC4):c.346G>A (p.Val116Ile)
|
rs763811136
|
0.00003
|
|
NM_005236.3(ERCC4):c.377A>T (p.Asp126Val)
|
rs941012957
|
0.00003
|
|
NM_005236.3(ERCC4):c.425C>A (p.Ser142Tyr)
|
rs764093404
|
0.00003
|
|
NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe)
|
rs587778282
|
0.00003
|
|
NM_005236.3(ERCC4):c.809T>C (p.Leu270Pro)
|
rs1457864707
|
0.00003
|
|
NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala)
|
rs200596978
|
0.00003
|
|
NM_005236.3(ERCC4):c.989A>C (p.Asp330Ala)
|
rs777183693
|
0.00003
|
|
NM_005592.4(MUSK):c.1128C>A (p.Asn376Lys)
|
rs773285595
|
0.00003
|
|
NM_005592.4(MUSK):c.1385-3C>T
|
rs775863015
|
0.00003
|
|
NM_005592.4(MUSK):c.1583A>C (p.Lys528Thr)
|
rs776545636
|
0.00003
|
|
NM_005592.4(MUSK):c.2300G>A (p.Arg767His)
|
rs370079610
|
0.00003
|
|
NM_005592.4(MUSK):c.230T>C (p.Ile77Thr)
|
rs547322569
|
0.00003
|
|
NM_005592.4(MUSK):c.468G>C (p.Lys156Asn)
|
rs187347916
|
0.00003
|
|
NM_005592.4(MUSK):c.754-6T>A
|
rs762500701
|
0.00003
|
|
NM_006265.3(RAD21):c.1400C>T (p.Ala467Val)
|
rs1445148501
|
0.00003
|
|
NM_006265.3(RAD21):c.1757G>A (p.Arg586Gln)
|
rs780692465
|
0.00003
|
|
NM_006306.4(SMC1A):c.2600T>C (p.Met867Thr)
|
rs1034852654
|
0.00003
|
|
NM_012243.3(SLC35A3):c.278T>C (p.Ile93Thr)
|
rs775651587
|
0.00003
|
|
NM_014918.5(CHSY1):c.1198G>A (p.Ala400Thr)
|
rs573681382
|
0.00003
|
|
NM_014918.5(CHSY1):c.2293G>A (p.Gly765Arg)
|
rs1315448986
|
0.00003
|
|
NM_014918.5(CHSY1):c.253A>G (p.Asn85Asp)
|
rs762384442
|
0.00003
|
|
NM_017617.5(NOTCH1):c.1441+4C>T
|
rs764082065
|
0.00003
|
|
NM_017617.5(NOTCH1):c.1554G>A (p.Thr518=)
|
rs190721271
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3110A>C (p.Gln1037Pro)
|
rs1408874772
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3510+3G>A
|
rs372739350
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4013C>T (p.Ala1338Val)
|
rs1397249771
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5716G>A (p.Ala1906Thr)
|
rs779880917
|
0.00003
|
|
NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs)
|
rs763016003
|
0.00003
|
|
NM_018062.4(FANCL):c.1121A>G (p.Lys374Arg)
|
rs745544496
|
0.00003
|
|
NM_018062.4(FANCL):c.317C>T (p.Pro106Leu)
|
rs771772034
|
0.00003
|
|
NM_018062.4(FANCL):c.883C>T (p.Arg295Cys)
|
rs376528147
|
0.00003
|
|
NM_020436.5(SALL4):c.3097A>G (p.Thr1033Ala)
|
rs943513953
|
0.00003
|
|
NM_020937.4(FANCM):c.11G>A (p.Arg4Gln)
|
rs140744346
|
0.00003
|
|
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly)
|
rs148810507
|
0.00003
|
|
NM_020937.4(FANCM):c.1706G>A (p.Arg569His)
|
rs754308821
|
0.00003
|
|
NM_020937.4(FANCM):c.1756G>C (p.Val586Leu)
|
rs775663650
|
0.00003
|
|
NM_020937.4(FANCM):c.1880G>C (p.Arg627Pro)
|
rs777379515
|
0.00003
|
|
NM_020937.4(FANCM):c.2286G>A (p.Met762Ile)
|
rs768567945
|
0.00003
|
|
NM_020937.4(FANCM):c.2358A>C (p.Gln786His)
|
rs367741599
|
0.00003
|
|
NM_020937.4(FANCM):c.2497G>A (p.Asp833Asn)
|
rs752560995
|
0.00003
|
|
NM_020937.4(FANCM):c.2762G>A (p.Cys921Tyr)
|
rs752914487
|
0.00003
|
|
NM_020937.4(FANCM):c.3232C>T (p.Pro1078Ser)
|
rs189723011
|
0.00003
|
|
NM_020937.4(FANCM):c.3407T>C (p.Leu1136Ser)
|
rs770989272
|
0.00003
|
|
NM_020937.4(FANCM):c.3544C>T (p.Leu1182Phe)
|
rs1180319315
|
0.00003
|
|
NM_020937.4(FANCM):c.4220A>G (p.Glu1407Gly)
|
rs946759727
|
0.00003
|
|
NM_020937.4(FANCM):c.4318-3T>G
|
rs367696095
|
0.00003
|
|
NM_020937.4(FANCM):c.4433G>A (p.Cys1478Tyr)
|
rs553521590
|
0.00003
|
|
NM_020937.4(FANCM):c.4456G>A (p.Val1486Ile)
|
rs192438733
|
0.00003
|
|
NM_020937.4(FANCM):c.4606A>G (p.Asn1536Asp)
|
rs375640203
|
0.00003
|
|
NM_020937.4(FANCM):c.461G>C (p.Cys154Ser)
|
rs766755069
|
0.00003
|
|
NM_020937.4(FANCM):c.4872T>G (p.Cys1624Trp)
|
rs919256712
|
0.00003
|
|
NM_020937.4(FANCM):c.544T>A (p.Cys182Ser)
|
rs992613830
|
0.00003
|
|
NM_020937.4(FANCM):c.5603A>G (p.Gln1868Arg)
|
rs764031097
|
0.00003
|
|
NM_020937.4(FANCM):c.5683T>C (p.Cys1895Arg)
|
rs148945714
|
0.00003
|
|
NM_020937.4(FANCM):c.56C>T (p.Ser19Leu)
|
rs201383385
|
0.00003
|
|
NM_020937.4(FANCM):c.6139G>A (p.Asp2047Asn)
|
rs192079020
|
0.00003
|
|
NM_020937.4(FANCM):c.655G>A (p.Ala219Thr)
|
rs1300272683
|
0.00003
|
|
NM_020937.4(FANCM):c.68C>A (p.Pro23Gln)
|
rs377031191
|
0.00003
|
|
NM_020937.4(FANCM):c.808C>T (p.Arg270Cys)
|
rs751006401
|
0.00003
|
|
NM_020937.4(FANCM):c.950A>G (p.Gln317Arg)
|
rs375644492
|
0.00003
|
|
NM_021922.3(FANCE):c.1189C>A (p.Pro397Thr)
|
rs759782690
|
0.00003
|
|
NM_021922.3(FANCE):c.1196G>A (p.Cys399Tyr)
|
rs1365782479
|
0.00003
|
|
NM_021922.3(FANCE):c.1316G>T (p.Gly439Val)
|
rs776298967
|
0.00003
|
|
NM_021922.3(FANCE):c.1349C>T (p.Thr450Ile)
|
rs201970876
|
0.00003
|
|
NM_021922.3(FANCE):c.199C>A (p.Leu67Met)
|
rs1161408735
|
0.00003
|
|
NM_021922.3(FANCE):c.248+5G>A
|
rs1027705914
|
0.00003
|
|
NM_021922.3(FANCE):c.356A>C (p.Gln119Pro)
|
rs781123077
|
0.00003
|
|
NM_021922.3(FANCE):c.457G>A (p.Ala153Thr)
|
rs151276683
|
0.00003
|
|
NM_021922.3(FANCE):c.592G>A (p.Gly198Arg)
|
rs747727711
|
0.00003
|
|
NM_022725.4(FANCF):c.1012G>A (p.Asp338Asn)
|
rs149687560
|
0.00003
|
|
NM_022725.4(FANCF):c.101C>T (p.Ala34Val)
|
rs780228540
|
0.00003
|
|
NM_022725.4(FANCF):c.149G>C (p.Arg50Pro)
|
rs371420932
|
0.00003
|
|
NM_022725.4(FANCF):c.302G>C (p.Arg101Pro)
|
rs1423734778
|
0.00003
|
|
NM_022725.4(FANCF):c.364C>G (p.Arg122Gly)
|
rs759470099
|
0.00003
|
|
NM_022725.4(FANCF):c.37G>A (p.Glu13Lys)
|
rs766362210
|
0.00003
|
|
NM_022725.4(FANCF):c.67G>T (p.Val23Phe)
|
rs777143902
|
0.00003
|
|
NM_022725.4(FANCF):c.785T>C (p.Leu262Ser)
|
rs368067979
|
0.00003
|
|
NM_023110.3(FGFR1):c.1319G>A (p.Gly440Glu)
|
rs372654433
|
0.00003
|
|
NM_023110.3(FGFR1):c.1595T>C (p.Met532Thr)
|
rs777345476
|
0.00003
|
|
NM_023110.3(FGFR1):c.169C>A (p.Leu57Met)
|
rs1301127877
|
0.00003
|
|
NM_023110.3(FGFR1):c.181G>A (p.Val61Met)
|
rs762089291
|
0.00003
|
|
NM_032043.3(BRIP1):c.1153C>A (p.Leu385Met)
|
rs748001678
|
0.00003
|
|
NM_032043.3(BRIP1):c.1171A>G (p.Ile391Val)
|
rs863224798
|
0.00003
|
|
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val)
|
rs142744352
|
0.00003
|
|
NM_032043.3(BRIP1):c.1499A>G (p.Lys500Arg)
|
rs746329838
|
0.00003
|
|
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)
|
rs4988349
|
0.00003
|
|
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu)
|
rs375246789
|
0.00003
|
|
NM_032043.3(BRIP1):c.1660C>G (p.Gln554Glu)
|
rs777217004
|
0.00003
|
|
NM_032043.3(BRIP1):c.1736G>A (p.Arg579His)
|
rs768224857
|
0.00003
|
|
NM_032043.3(BRIP1):c.1798T>C (p.Phe600Leu)
|
rs745367580
|
0.00003
|
|
NM_032043.3(BRIP1):c.1972C>T (p.Arg658Trp)
|
rs786203170
|
0.00003
|
|
NM_032043.3(BRIP1):c.2047G>C (p.Val683Leu)
|
rs773347072
|
0.00003
|
|
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)
|
rs200960251
|
0.00003
|
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
|
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser)
|
rs587780239
|
0.00003
|
|
NM_032043.3(BRIP1):c.2567A>G (p.Tyr856Cys)
|
rs781556845
|
0.00003
|
|
NM_032043.3(BRIP1):c.2590G>A (p.Val864Ile)
|
rs149529390
|
0.00003
|
|
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr)
|
rs757668121
|
0.00003
|
|
NM_032043.3(BRIP1):c.2806G>A (p.Glu936Lys)
|
rs754280048
|
0.00003
|
|
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)
|
rs200239986
|
0.00003
|
|
NM_032043.3(BRIP1):c.2858C>T (p.Thr953Ile)
|
rs201672040
|
0.00003
|
|
NM_032043.3(BRIP1):c.347C>G (p.Ser116Cys)
|
rs748793974
|
0.00003
|
|
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)
|
rs761405340
|
0.00003
|
|
NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter)
|
rs542698396
|
0.00003
|
|
NM_032043.3(BRIP1):c.3730_3731del (p.Met1244fs)
|
rs730881646
|
0.00003
|
|
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)
|
rs587781860
|
0.00003
|
|
NM_032043.3(BRIP1):c.886G>C (p.Glu296Gln)
|
rs876660125
|
0.00003
|
|
NM_032043.3(BRIP1):c.887A>G (p.Glu296Gly)
|
rs878855158
|
0.00003
|
|
NM_032444.4(SLX4):c.1077G>T (p.Lys359Asn)
|
rs149470704
|
0.00003
|
|
NM_032444.4(SLX4):c.1115G>A (p.Arg372Gln)
|
rs372956623
|
0.00003
|
|
NM_032444.4(SLX4):c.1159T>G (p.Phe387Val)
|
rs373810042
|
0.00003
|
|
NM_032444.4(SLX4):c.1169G>T (p.Ser390Ile)
|
rs775559576
|
0.00003
|
|
NM_032444.4(SLX4):c.1193G>A (p.Arg398Gln)
|
rs200030312
|
0.00003
|
|
NM_032444.4(SLX4):c.1222C>T (p.Arg408Trp)
|
rs758029323
|
0.00003
|
|
NM_032444.4(SLX4):c.1231C>T (p.Arg411Trp)
|
rs761227900
|
0.00003
|
|
NM_032444.4(SLX4):c.1405C>G (p.Pro469Ala)
|
rs763833617
|
0.00003
|
|
NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser)
|
rs776189589
|
0.00003
|
|
NM_032444.4(SLX4):c.1520G>A (p.Arg507Lys)
|
rs762550449
|
0.00003
|
|
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val)
|
rs199683722
|
0.00003
|
|
NM_032444.4(SLX4):c.1573C>T (p.Arg525Cys)
|
rs143831403
|
0.00003
|
|
NM_032444.4(SLX4):c.1749G>T (p.Arg583Ser)
|
rs374644679
|
0.00003
|
|
NM_032444.4(SLX4):c.1756G>A (p.Ala586Thr)
|
rs764210911
|
0.00003
|
|
NM_032444.4(SLX4):c.1786G>A (p.Gly596Ser)
|
rs144454312
|
0.00003
|
|
NM_032444.4(SLX4):c.2065C>T (p.His689Tyr)
|
rs138124860
|
0.00003
|
|
NM_032444.4(SLX4):c.2125G>A (p.Val709Met)
|
rs151026877
|
0.00003
|
|
NM_032444.4(SLX4):c.2332G>C (p.Gly778Arg)
|
rs142722925
|
0.00003
|
|
NM_032444.4(SLX4):c.2449G>C (p.Glu817Gln)
|
rs143730668
|
0.00003
|
|
NM_032444.4(SLX4):c.244A>G (p.Asn82Asp)
|
rs202237877
|
0.00003
|
|
NM_032444.4(SLX4):c.2990C>T (p.Pro997Leu)
|
rs774243118
|
0.00003
|
|
NM_032444.4(SLX4):c.2998A>G (p.Ile1000Val)
|
rs772540192
|
0.00003
|
|
NM_032444.4(SLX4):c.3062G>C (p.Arg1021Pro)
|
rs200842643
|
0.00003
|
|
NM_032444.4(SLX4):c.3089C>T (p.Pro1030Leu)
|
rs774562724
|
0.00003
|
|
NM_032444.4(SLX4):c.3095C>T (p.Pro1032Leu)
|
rs200924744
|
0.00003
|
|
NM_032444.4(SLX4):c.3118C>T (p.Pro1040Ser)
|
rs201359490
|
0.00003
|
|
NM_032444.4(SLX4):c.3374A>G (p.Asp1125Gly)
|
rs186784513
|
0.00003
|
|
NM_032444.4(SLX4):c.349G>T (p.Ala117Ser)
|
rs775853263
|
0.00003
|
|
NM_032444.4(SLX4):c.3799C>T (p.Arg1267Cys)
|
rs201422743
|
0.00003
|
|
NM_032444.4(SLX4):c.4186G>A (p.Gly1396Arg)
|
rs376437029
|
0.00003
|
|
NM_032444.4(SLX4):c.4313T>C (p.Ile1438Thr)
|
rs779769996
|
0.00003
|
|
NM_032444.4(SLX4):c.433G>A (p.Ala145Thr)
|
rs780711582
|
0.00003
|
|
NM_032444.4(SLX4):c.4366C>T (p.Arg1456Cys)
|
rs760286353
|
0.00003
|
|
NM_032444.4(SLX4):c.4367G>A (p.Arg1456His)
|
rs774858804
|
0.00003
|
|
NM_032444.4(SLX4):c.4387G>A (p.Asp1463Asn)
|
rs779970904
|
0.00003
|
|
NM_032444.4(SLX4):c.4402C>T (p.Arg1468Cys)
|
rs760497928
|
0.00003
|
|
NM_032444.4(SLX4):c.4406C>T (p.Ser1469Phe)
|
rs759045352
|
0.00003
|
|
NM_032444.4(SLX4):c.4478C>T (p.Ser1493Leu)
|
rs565491187
|
0.00003
|
|
NM_032444.4(SLX4):c.4508C>T (p.Pro1503Leu)
|
rs370637700
|
0.00003
|
|
NM_032444.4(SLX4):c.4751G>A (p.Arg1584His)
|
rs199969428
|
0.00003
|
|
NM_032444.4(SLX4):c.4766G>A (p.Arg1589His)
|
rs746314060
|
0.00003
|
|
NM_032444.4(SLX4):c.485C>T (p.Thr162Met)
|
rs140876043
|
0.00003
|
|
NM_032444.4(SLX4):c.4873C>T (p.His1625Tyr)
|
rs145527531
|
0.00003
|
|
NM_032444.4(SLX4):c.4889C>A (p.Ala1630Asp)
|
rs886051977
|
0.00003
|
|
NM_032444.4(SLX4):c.5000A>G (p.His1667Arg)
|
rs139304111
|
0.00003
|
|
NM_032444.4(SLX4):c.5228C>T (p.Ser1743Leu)
|
rs144057906
|
0.00003
|
|
NM_032444.4(SLX4):c.5263G>T (p.Ala1755Ser)
|
rs780678810
|
0.00003
|
|
NM_032444.4(SLX4):c.5467C>T (p.Arg1823Trp)
|
rs771230395
|
0.00003
|
|
NM_032444.4(SLX4):c.553G>A (p.Asp185Asn)
|
rs201769293
|
0.00003
|
|
NM_032444.4(SLX4):c.709C>T (p.Arg237Trp)
|
rs199912910
|
0.00003
|
|
NM_032444.4(SLX4):c.752C>T (p.Ala251Val)
|
rs201117707
|
0.00003
|
|
NM_032444.4(SLX4):c.806C>T (p.Ala269Val)
|
rs750475726
|
0.00003
|
|
NM_032444.4(SLX4):c.922G>A (p.Val308Met)
|
rs775151113
|
0.00003
|
|
NM_032444.4(SLX4):c.929G>A (p.Arg310Gln)
|
rs759447034
|
0.00003
|
|
NM_032444.4(SLX4):c.97G>T (p.Asp33Tyr)
|
rs780117582
|
0.00003
|
|
NM_032634.4(PIGO):c.1013G>A (p.Gly338Glu)
|
rs749274989
|
0.00003
|
|
NM_032634.4(PIGO):c.1177C>T (p.Leu393Phe)
|
rs748782878
|
0.00003
|
|
NM_032634.4(PIGO):c.1187T>A (p.Leu396Gln)
|
rs146501297
|
0.00003
|
|
NM_032634.4(PIGO):c.1522C>G (p.Leu508Val)
|
rs1398099043
|
0.00003
|
|
NM_032634.4(PIGO):c.157G>A (p.Gly53Arg)
|
rs1361264867
|
0.00003
|
|
NM_032634.4(PIGO):c.1991G>A (p.Arg664Gln)
|
rs371923881
|
0.00003
|
|
NM_032634.4(PIGO):c.2092G>A (p.Glu698Lys)
|
rs571768342
|
0.00003
|
|
NM_032634.4(PIGO):c.2186C>T (p.Pro729Leu)
|
rs140561049
|
0.00003
|
|
NM_032634.4(PIGO):c.2267C>T (p.Ala756Val)
|
rs757452987
|
0.00003
|
|
NM_032634.4(PIGO):c.2431C>T (p.Arg811Trp)
|
rs140470862
|
0.00003
|
|
NM_032634.4(PIGO):c.2909G>A (p.Arg970Gln)
|
rs781623319
|
0.00003
|
|
NM_032634.4(PIGO):c.356G>A (p.Arg119Gln)
|
rs753918558
|
0.00003
|
|
NM_032634.4(PIGO):c.655+6C>T
|
rs901654668
|
0.00003
|
|
NM_032634.4(PIGO):c.662G>C (p.Ser221Thr)
|
rs754088095
|
0.00003
|
|
NM_058216.3(RAD51C):c.1006A>C (p.Thr336Pro)
|
rs772344354
|
0.00003
|
|
NM_058216.3(RAD51C):c.1090A>G (p.Ser364Gly)
|
rs587782565
|
0.00003
|
|
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)
|
rs587780253
|
0.00003
|
|
NM_058216.3(RAD51C):c.1118A>C (p.Glu373Ala)
|
rs758223998
|
0.00003
|
|
NM_058216.3(RAD51C):c.121G>C (p.Val41Leu)
|
rs879254131
|
0.00003
|
|
NM_058216.3(RAD51C):c.189T>G (p.Ile63Met)
|
rs730881923
|
0.00003
|
|
NM_058216.3(RAD51C):c.287C>G (p.Thr96Ser)
|
rs750381200
|
0.00003
|
|
NM_058216.3(RAD51C):c.451G>C (p.Val151Leu)
|
rs753912045
|
0.00003
|
|
NM_058216.3(RAD51C):c.77A>T (p.Lys26Met)
|
rs746026526
|
0.00003
|
|
NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg)
|
rs376403182
|
0.00003
|
|
NM_058216.3(RAD51C):c.970G>A (p.Ala324Thr)
|
rs777575172
|
0.00003
|
|
NM_130468.4(CHST14):c.239G>A (p.Gly80Asp)
|
rs371189136
|
0.00003
|
|
NM_130468.4(CHST14):c.743G>C (p.Gly248Ala)
|
rs778069410
|
0.00003
|
|
NM_130468.4(CHST14):c.77C>T (p.Pro26Leu)
|
rs1321331803
|
0.00003
|
|
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr)
|
rs201482152
|
0.00003
|
|
NM_133433.4(NIPBL):c.3493C>T (p.Leu1165Phe)
|
rs540365485
|
0.00003
|
|
NM_133433.4(NIPBL):c.4204G>C (p.Glu1402Gln)
|
rs61755039
|
0.00003
|
|
NM_133433.4(NIPBL):c.5018G>A (p.Arg1673His)
|
rs770286768
|
0.00003
|
|
NM_147127.5(EVC2):c.2363C>T (p.Ala788Val)
|
rs376048508
|
0.00003
|
|
NM_147127.5(EVC2):c.2551A>G (p.Met851Val)
|
rs373004013
|
0.00003
|
|
NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn)
|
rs746187559
|
0.00003
|
|
NM_147127.5(EVC2):c.3505C>T (p.His1169Tyr)
|
rs747562782
|
0.00003
|
|
NM_147127.5(EVC2):c.361G>C (p.Gly121Arg)
|
rs748417016
|
0.00003
|
|
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys)
|
rs773218631
|
0.00003
|
|
NM_147127.5(EVC2):c.902G>C (p.Gly301Ala)
|
rs142952894
|
0.00003
|
|
NM_153717.3(EVC):c.1574T>G (p.Phe525Cys)
|
rs771560788
|
0.00003
|
|
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu)
|
rs371682994
|
0.00003
|
|
NM_153717.3(EVC):c.461A>G (p.Glu154Gly)
|
rs1386247667
|
0.00003
|
|
NM_153717.3(EVC):c.625G>A (p.Val209Ile)
|
rs202026284
|
0.00003
|
|
NM_153717.3(EVC):c.920C>G (p.Ser307Cys)
|
rs372548610
|
0.00003
|
|
NM_173660.5(DOK7):c.1000A>G (p.Ser334Gly)
|
rs769643041
|
0.00003
|
|
NM_173660.5(DOK7):c.1141C>T (p.Pro381Ser)
|
rs574663125
|
0.00003
|
|
NM_173660.5(DOK7):c.1262C>A (p.Pro421His)
|
rs373261147
|
0.00003
|
|
NM_173660.5(DOK7):c.1294A>G (p.Arg432Gly)
|
rs1390831169
|
0.00003
|
|
NM_173660.5(DOK7):c.1451C>T (p.Pro484Leu)
|
rs1057518522
|
0.00003
|
|
NM_173660.5(DOK7):c.1477C>G (p.Pro493Ala)
|
rs748438470
|
0.00003
|
|
NM_173660.5(DOK7):c.1496A>G (p.Lys499Arg)
|
rs865879271
|
0.00003
|
|
NM_173660.5(DOK7):c.36G>T (p.Lys12Asn)
|
rs368106071
|
0.00003
|
|
NM_173660.5(DOK7):c.522G>C (p.Arg174Ser)
|
rs762376200
|
0.00003
|
|
NM_173660.5(DOK7):c.54+3C>T
|
rs1560200971
|
0.00003
|
|
NM_173660.5(DOK7):c.611C>A (p.Ser204Tyr)
|
rs1219693310
|
0.00003
|
|
NM_173660.5(DOK7):c.638G>A (p.Arg213Gln)
|
rs371408752
|
0.00003
|
|
NM_173660.5(DOK7):c.674C>T (p.Ser225Leu)
|
rs769699131
|
0.00003
|
|
NM_173660.5(DOK7):c.757A>G (p.Arg253Gly)
|
rs370967580
|
0.00003
|
|
NM_173660.5(DOK7):c.857A>G (p.Glu286Gly)
|
rs754105518
|
0.00003
|
|
NM_173660.5(DOK7):c.94G>A (p.Val32Met)
|
rs1417673287
|
0.00003
|
|
NM_173660.5(DOK7):c.983A>C (p.Gln328Pro)
|
rs752168445
|
0.00003
|
|
NM_173660.5(DOK7):c.994C>T (p.Arg332Cys)
|
rs200394790
|
0.00003
|
|
NM_000079.4(CHRNA1):c.1162A>C (p.Lys388Gln)
|
rs202090282
|
0.00002
|
|
NM_000079.4(CHRNA1):c.1171G>A (p.Glu391Lys)
|
rs762411124
|
0.00002
|
|
NM_000079.4(CHRNA1):c.145G>A (p.Val49Met)
|
rs1019158028
|
0.00002
|
|
NM_000079.4(CHRNA1):c.539C>T (p.Pro180Leu)
|
rs373561258
|
0.00002
|
|
NM_000079.4(CHRNA1):c.605G>A (p.Arg202Gln)
|
rs769337073
|
0.00002
|
|
NM_000079.4(CHRNA1):c.841G>A (p.Val281Met)
|
rs764265345
|
0.00002
|
|
NM_000079.4(CHRNA1):c.919G>A (p.Ala307Thr)
|
rs550013897
|
0.00002
|
|
NM_000079.4(CHRNA1):c.962G>A (p.Arg321His)
|
rs762938254
|
0.00002
|
|
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr)
|
rs752532498
|
0.00002
|
|
NM_000135.4(FANCA):c.1007-3C>T
|
rs557382436
|
0.00002
|
|
NM_000135.4(FANCA):c.1100G>A (p.Ser367Asn)
|
rs764286584
|
0.00002
|
|
NM_000135.4(FANCA):c.1114G>T (p.Val372Phe)
|
rs982286482
|
0.00002
|
|
NM_000135.4(FANCA):c.1219C>G (p.Leu407Val)
|
rs748005916
|
0.00002
|
|
NM_000135.4(FANCA):c.1231G>A (p.Val411Met)
|
rs924067529
|
0.00002
|
|
NM_000135.4(FANCA):c.1243A>G (p.Met415Val)
|
rs1438001164
|
0.00002
|
|
NM_000135.4(FANCA):c.1331C>T (p.Ala444Val)
|
rs144234991
|
0.00002
|
|
NM_000135.4(FANCA):c.1477A>G (p.Ile493Val)
|
rs762828757
|
0.00002
|
|
NM_000135.4(FANCA):c.1558G>C (p.Asp520His)
|
rs754123446
|
0.00002
|
|
NM_000135.4(FANCA):c.1566+6C>G
|
rs886939126
|
0.00002
|
|
NM_000135.4(FANCA):c.1676A>G (p.Glu559Gly)
|
rs753229112
|
0.00002
|
|
NM_000135.4(FANCA):c.1702G>A (p.Val568Ile)
|
rs778754162
|
0.00002
|
|
NM_000135.4(FANCA):c.1717A>G (p.Ile573Val)
|
rs775255736
|
0.00002
|
|
NM_000135.4(FANCA):c.1781C>A (p.Pro594His)
|
rs780295697
|
0.00002
|
|
NM_000135.4(FANCA):c.1822A>G (p.Lys608Glu)
|
rs938278864
|
0.00002
|
|
NM_000135.4(FANCA):c.189+4A>G
|
rs374822922
|
0.00002
|
|
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp)
|
rs201672093
|
0.00002
|
|
NM_000135.4(FANCA):c.2123C>T (p.Thr708Met)
|
rs775960094
|
0.00002
|
|
NM_000135.4(FANCA):c.2209G>A (p.Ala737Thr)
|
rs539161141
|
0.00002
|
|
NM_000135.4(FANCA):c.2222+8C>T
|
rs745775730
|
0.00002
|
|
NM_000135.4(FANCA):c.2413C>T (p.Pro805Ser)
|
rs1359572434
|
0.00002
|
|
NM_000135.4(FANCA):c.2504A>C (p.Lys835Thr)
|
rs749268120
|
0.00002
|
|
NM_000135.4(FANCA):c.2505-5T>G
|
rs768436599
|
0.00002
|
|
NM_000135.4(FANCA):c.2530T>C (p.Ser844Pro)
|
rs1017352035
|
0.00002
|
|
NM_000135.4(FANCA):c.2618T>G (p.Phe873Cys)
|
rs756314107
|
0.00002
|
|
NM_000135.4(FANCA):c.2689C>G (p.His897Asp)
|
rs766402927
|
0.00002
|
|
NM_000135.4(FANCA):c.2833G>A (p.Ala945Thr)
|
rs757996952
|
0.00002
|
|
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr)
|
rs965036018
|
0.00002
|
|
NM_000135.4(FANCA):c.2923G>A (p.Gly975Arg)
|
rs369565161
|
0.00002
|
|
NM_000135.4(FANCA):c.2967G>A (p.Met989Ile)
|
rs1178389035
|
0.00002
|
|
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn)
|
rs1060501883
|
0.00002
|
|
NM_000135.4(FANCA):c.2979A>G (p.Gln993=)
|
rs761577170
|
0.00002
|
|
NM_000135.4(FANCA):c.3115G>A (p.Gly1039Ser)
|
rs773260958
|
0.00002
|
|
NM_000135.4(FANCA):c.3179C>G (p.Thr1060Arg)
|
rs766358053
|
0.00002
|
|
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly)
|
rs369878171
|
0.00002
|
|
NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val)
|
rs1419279017
|
0.00002
|
|
NM_000135.4(FANCA):c.3260C>T (p.Ser1087Leu)
|
rs376089640
|
0.00002
|
|
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro)
|
rs977982480
|
0.00002
|
|
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu)
|
rs780078373
|
0.00002
|
|
NM_000135.4(FANCA):c.3605A>G (p.Glu1202Gly)
|
rs760330357
|
0.00002
|
|
NM_000135.4(FANCA):c.3611G>A (p.Arg1204Gln)
|
rs770622823
|
0.00002
|
|
NM_000135.4(FANCA):c.3688C>G (p.Leu1230Val)
|
rs576401459
|
0.00002
|
|
NM_000135.4(FANCA):c.3726C>G (p.Ile1242Met)
|
rs972127356
|
0.00002
|
|
NM_000135.4(FANCA):c.3764A>C (p.Glu1255Ala)
|
rs373998809
|
0.00002
|
|
NM_000135.4(FANCA):c.401C>T (p.Pro134Leu)
|
rs143570168
|
0.00002
|
|
NM_000135.4(FANCA):c.4040C>T (p.Ala1347Val)
|
rs766710139
|
0.00002
|
|
NM_000135.4(FANCA):c.4218A>T (p.Leu1406Phe)
|
rs752245802
|
0.00002
|
|
NM_000135.4(FANCA):c.4222C>A (p.Pro1408Thr)
|
rs767206558
|
0.00002
|
|
NM_000135.4(FANCA):c.4241G>A (p.Ser1414Asn)
|
rs772122405
|
0.00002
|
|
NM_000135.4(FANCA):c.559G>A (p.Val187Ile)
|
rs761538996
|
0.00002
|
|
NM_000135.4(FANCA):c.596+4G>A
|
rs780355864
|
0.00002
|
|
NM_000135.4(FANCA):c.620G>C (p.Gly207Ala)
|
rs1432895332
|
0.00002
|
|
NM_000135.4(FANCA):c.701T>C (p.Met234Thr)
|
rs145869646
|
0.00002
|
|
NM_000135.4(FANCA):c.88G>A (p.Val30Ile)
|
rs1160471115
|
0.00002
|
|
NM_000135.4(FANCA):c.910G>C (p.Gly304Arg)
|
rs775212719
|
0.00002
|
|
NM_000136.3(FANCC):c.1024C>G (p.Pro342Ala)
|
rs863224606
|
0.00002
|
|
NM_000136.3(FANCC):c.1144C>G (p.Gln382Glu)
|
rs778968824
|
0.00002
|
|
NM_000136.3(FANCC):c.1159T>C (p.Cys387Arg)
|
rs1064793837
|
0.00002
|
|
NM_000136.3(FANCC):c.1575T>G (p.Phe525Leu)
|
rs587779901
|
0.00002
|
|
NM_000136.3(FANCC):c.1672G>T (p.Val558Phe)
|
rs758866109
|
0.00002
|
|
NM_000136.3(FANCC):c.233C>A (p.Pro78His)
|
rs138722298
|
0.00002
|
|
NM_000136.3(FANCC):c.349G>A (p.Val117Ile)
|
rs781167993
|
0.00002
|
|
NM_000136.3(FANCC):c.383A>G (p.Asp128Gly)
|
rs555753798
|
0.00002
|
|
NM_000136.3(FANCC):c.473C>T (p.Ala158Val)
|
rs776429990
|
0.00002
|
|
NM_000136.3(FANCC):c.565C>G (p.Pro189Ala)
|
rs377620735
|
0.00002
|
|
NM_000136.3(FANCC):c.598G>C (p.Val200Leu)
|
rs772996041
|
0.00002
|
|
NM_000136.3(FANCC):c.620A>T (p.His207Leu)
|
rs202038890
|
0.00002
|
|
NM_000136.3(FANCC):c.652G>C (p.Glu218Gln)
|
rs752339229
|
0.00002
|
|
NM_000136.3(FANCC):c.770T>C (p.Leu257Pro)
|
rs1060502515
|
0.00002
|
|
NM_000136.3(FANCC):c.790A>G (p.Ser264Gly)
|
rs111657009
|
0.00002
|
|
NM_000136.3(FANCC):c.826A>G (p.Ile276Val)
|
rs377085045
|
0.00002
|
|
NM_000751.3(CHRND):c.1372G>A (p.Glu458Lys)
|
rs140982683
|
0.00002
|
|
NM_000751.3(CHRND):c.1411C>T (p.Arg471Cys)
|
rs533115724
|
0.00002
|
|
NM_000751.3(CHRND):c.1417dup (p.Cys473fs)
|
rs1468893310
|
0.00002
|
|
NM_000751.3(CHRND):c.1552T>G (p.Ter518Glu)
|
rs756238142
|
0.00002
|
|
NM_000751.3(CHRND):c.463G>A (p.Val155Ile)
|
rs767201456
|
0.00002
|
|
NM_000751.3(CHRND):c.698G>A (p.Arg233His)
|
rs146416320
|
0.00002
|
|
NM_000751.3(CHRND):c.928G>A (p.Gly310Ser)
|
rs771670415
|
0.00002
|
|
NM_001018113.3(FANCB):c.1159C>T (p.Arg387Cys)
|
rs145542355
|
0.00002
|
|
NM_001018113.3(FANCB):c.1251A>C (p.Lys417Asn)
|
rs1296333300
|
0.00002
|
|
NM_001018113.3(FANCB):c.1702C>T (p.His568Tyr)
|
rs763091316
|
0.00002
|
|
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)
|
rs943801800
|
0.00002
|
|
NM_001018113.3(FANCB):c.653A>C (p.Glu218Ala)
|
rs781051710
|
0.00002
|
|
NM_001018113.3(FANCB):c.679T>C (p.Tyr227His)
|
rs1398803909
|
0.00002
|
|
NM_001018115.3(FANCD2):c.1027A>G (p.Ile343Val)
|
rs993692917
|
0.00002
|
|
NM_001018115.3(FANCD2):c.1745C>T (p.Ala582Val)
|
rs768105189
|
0.00002
|
|
NM_001018115.3(FANCD2):c.1766+3A>G
|
rs758140679
|
0.00002
|
|
NM_001018115.3(FANCD2):c.245C>T (p.Thr82Ile)
|
rs1221930544
|
0.00002
|
|
NM_001018115.3(FANCD2):c.2986A>G (p.Ser996Gly)
|
rs745373058
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3106T>A (p.Cys1036Ser)
|
rs767901156
|
0.00002
|
|
NM_001018115.3(FANCD2):c.310A>G (p.Ile104Val)
|
rs774299094
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3127G>A (p.Gly1043Ser)
|
rs142238966
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3149T>A (p.Val1050Glu)
|
rs751027444
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3226A>G (p.Ser1076Gly)
|
rs1371349116
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3389G>A (p.Cys1130Tyr)
|
rs750409411
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3406A>G (p.Arg1136Gly)
|
rs369405673
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3421A>G (p.Ile1141Val)
|
rs752815037
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3493C>T (p.Arg1165Trp)
|
rs759348779
|
0.00002
|
|
NM_001018115.3(FANCD2):c.355C>T (p.Arg119Cys)
|
rs200335298
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3692T>C (p.Phe1231Ser)
|
rs762915519
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3734C>T (p.Thr1245Met)
|
rs764775864
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3808A>G (p.Met1270Val)
|
rs587778333
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3895C>T (p.Arg1299Cys)
|
rs555348798
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3959A>G (p.His1320Arg)
|
rs746501818
|
0.00002
|
|
NM_001018115.3(FANCD2):c.4175G>A (p.Arg1392Gln)
|
rs1334082637
|
0.00002
|
|
NM_001018115.3(FANCD2):c.605T>C (p.Ile202Thr)
|
rs751126921
|
0.00002
|
|
NM_001113378.2(FANCI):c.1513C>T (p.Pro505Ser)
|
rs774909787
|
0.00002
|
|
NM_001113378.2(FANCI):c.1741G>A (p.Glu581Lys)
|
rs768875486
|
0.00002
|
|
NM_001113378.2(FANCI):c.1742A>G (p.Glu581Gly)
|
rs1262508273
|
0.00002
|
|
NM_001113378.2(FANCI):c.17T>C (p.Leu6Ser)
|
rs369268726
|
0.00002
|
|
NM_001113378.2(FANCI):c.1801G>A (p.Val601Ile)
|
rs200007022
|
0.00002
|
|
NM_001113378.2(FANCI):c.1850C>G (p.Ser617Cys)
|
rs749295501
|
0.00002
|
|
NM_001113378.2(FANCI):c.197G>A (p.Arg66His)
|
rs779515039
|
0.00002
|
|
NM_001113378.2(FANCI):c.2026G>T (p.Ala676Ser)
|
rs756986642
|
0.00002
|
|
NM_001113378.2(FANCI):c.2096A>C (p.Tyr699Ser)
|
rs774148630
|
0.00002
|
|
NM_001113378.2(FANCI):c.2170-3T>C
|
rs757908899
|
0.00002
|
|
NM_001113378.2(FANCI):c.2266T>C (p.Tyr756His)
|
rs752028405
|
0.00002
|
|
NM_001113378.2(FANCI):c.2336A>G (p.Lys779Arg)
|
rs1323965441
|
0.00002
|
|
NM_001113378.2(FANCI):c.2768A>G (p.Tyr923Cys)
|
rs200907824
|
0.00002
|
|
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp)
|
rs562503186
|
0.00002
|
|
NM_001113378.2(FANCI):c.3016A>G (p.Met1006Val)
|
rs781108611
|
0.00002
|
|
NM_001113378.2(FANCI):c.3124C>G (p.Pro1042Ala)
|
rs752438879
|
0.00002
|
|
NM_001113378.2(FANCI):c.3188A>T (p.Asp1063Val)
|
rs142756279
|
0.00002
|
|
NM_001113378.2(FANCI):c.3309C>G (p.Ile1103Met)
|
rs922792253
|
0.00002
|
|
NM_001113378.2(FANCI):c.3816+6C>T
|
rs989969696
|
0.00002
|
|
NM_001113378.2(FANCI):c.644A>G (p.Tyr215Cys)
|
rs751222800
|
0.00002
|
|
NM_001113378.2(FANCI):c.665C>T (p.Ser222Phe)
|
rs1435589915
|
0.00002
|
|
NM_001113378.2(FANCI):c.875A>G (p.His292Arg)
|
rs764641724
|
0.00002
|
|
NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser)
|
rs769485443
|
0.00002
|
|
NM_001271938.2(MEGF8):c.1079C>T (p.Ser360Phe)
|
rs1064796651
|
0.00002
|
|
NM_001271938.2(MEGF8):c.1315C>T (p.Arg439Trp)
|
rs769862975
|
0.00002
|
|
NM_001271938.2(MEGF8):c.1496C>T (p.Pro499Leu)
|
rs993849381
|
0.00002
|
|
NM_001271938.2(MEGF8):c.3311G>A (p.Arg1104Gln)
|
rs1460568797
|
0.00002
|
|
NM_001271938.2(MEGF8):c.412C>T (p.Arg138Cys)
|
rs760894078
|
0.00002
|
|
NM_001271938.2(MEGF8):c.4492C>T (p.Arg1498Cys)
|
rs747096596
|
0.00002
|
|
NM_001271938.2(MEGF8):c.5752A>G (p.Met1918Val)
|
rs768713408
|
0.00002
|
|
NM_001271938.2(MEGF8):c.5809C>T (p.Arg1937Cys)
|
rs777955709
|
0.00002
|
|
NM_001271938.2(MEGF8):c.5868G>T (p.Trp1956Cys)
|
rs1205847294
|
0.00002
|
|
NM_001271938.2(MEGF8):c.7184C>T (p.Thr2395Met)
|
rs758007485
|
0.00002
|
|
NM_001271938.2(MEGF8):c.739+3G>A
|
rs772336647
|
0.00002
|
|
NM_001271938.2(MEGF8):c.7631G>A (p.Arg2544Gln)
|
rs754329335
|
0.00002
|
|
NM_001271938.2(MEGF8):c.7694G>A (p.Arg2565Gln)
|
rs764185083
|
0.00002
|
|
NM_001271938.2(MEGF8):c.7809G>T (p.Glu2603Asp)
|
rs768902189
|
0.00002
|
|
NM_001278689.2(EOGT):c.1387G>A (p.Val463Ile)
|
rs764559304
|
0.00002
|
|
NM_001278689.2(EOGT):c.1411C>T (p.Gln471Ter)
|
rs777402465
|
0.00002
|
|
NM_001278689.2(EOGT):c.334G>A (p.Glu112Lys)
|
rs200038187
|
0.00002
|
|
NM_001278689.2(EOGT):c.587C>T (p.Ser196Phe)
|
rs778686242
|
0.00002
|
|
NM_001346754.2(PIGW):c.1153C>T (p.Leu385Phe)
|
rs1289299909
|
0.00002
|
|
NM_001346754.2(PIGW):c.134_135del (p.Tyr45fs)
|
rs1279743396
|
0.00002
|
|
NM_001346754.2(PIGW):c.34A>G (p.Ser12Gly)
|
rs745967175
|
0.00002
|
|
NM_001346754.2(PIGW):c.398G>A (p.Arg133His)
|
rs997305566
|
0.00002
|
|
NM_001346754.2(PIGW):c.796C>T (p.Leu266Phe)
|
rs189401029
|
0.00002
|
|
NM_001346754.2(PIGW):c.919A>G (p.Ile307Val)
|
rs773988121
|
0.00002
|
|
NM_001346754.2(PIGW):c.994C>T (p.His332Tyr)
|
rs141448923
|
0.00002
|
|
NM_001374353.1(GLI2):c.176A>G (p.His59Arg)
|
rs777912029
|
0.00002
|
|
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys)
|
rs387907277
|
0.00002
|
|
NM_001374353.1(GLI2):c.2005A>T (p.Thr669Ser)
|
rs750174908
|
0.00002
|
|
NM_001374353.1(GLI2):c.2075T>C (p.Leu692Pro)
|
rs781438228
|
0.00002
|
|
NM_001374353.1(GLI2):c.451G>A (p.Ala151Thr)
|
rs781771721
|
0.00002
|
|
NM_001374353.1(GLI2):c.4610C>T (p.Pro1537Leu)
|
rs767802807
|
0.00002
|
|
NM_001374353.1(GLI2):c.515C>A (p.Thr172Asn)
|
rs200720726
|
0.00002
|
|
NM_001374353.1(GLI2):c.58C>G (p.Leu20Val)
|
rs754532059
|
0.00002
|
|
NM_001429.4(EP300):c.5914A>G (p.Met1972Val)
|
rs373725137
|
0.00002
|
|
NM_001999.4(FBN2):c.1058C>T (p.Thr353Ile)
|
rs1204127908
|
0.00002
|
|
NM_001999.4(FBN2):c.1093A>G (p.Met365Val)
|
rs1401325502
|
0.00002
|
|
NM_001999.4(FBN2):c.1238A>G (p.Tyr413Cys)
|
rs576123258
|
0.00002
|
|
NM_001999.4(FBN2):c.1365G>T (p.Gly455=)
|
rs794726987
|
0.00002
|
|
NM_001999.4(FBN2):c.1412T>C (p.Val471Ala)
|
rs928205576
|
0.00002
|
|
NM_001999.4(FBN2):c.1990A>T (p.Thr664Ser)
|
rs746408145
|
0.00002
|
|
NM_001999.4(FBN2):c.2620A>C (p.Asn874His)
|
rs1297639505
|
0.00002
|
|
NM_001999.4(FBN2):c.2811A>G (p.Leu937=)
|
rs1751336276
|
0.00002
|
|
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys)
|
rs758694112
|
0.00002
|
|
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser)
|
rs769474473
|
0.00002
|
|
NM_001999.4(FBN2):c.5551A>G (p.Ile1851Val)
|
rs779901706
|
0.00002
|
|
NM_001999.4(FBN2):c.6250C>T (p.Pro2084Ser)
|
rs868031420
|
0.00002
|
|
NM_001999.4(FBN2):c.7033A>G (p.Lys2345Glu)
|
rs1464960068
|
0.00002
|
|
NM_001999.4(FBN2):c.7496C>T (p.Pro2499Leu)
|
rs199583859
|
0.00002
|
|
NM_001999.4(FBN2):c.7511A>G (p.Tyr2504Cys)
|
rs764032053
|
0.00002
|
|
NM_001999.4(FBN2):c.7712-11T>A
|
rs776926809
|
0.00002
|
|
NM_001999.4(FBN2):c.7780A>G (p.Ser2594Gly)
|
rs1430209734
|
0.00002
|
|
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro)
|
rs201988564
|
0.00002
|
|
NM_001999.4(FBN2):c.8207G>A (p.Gly2736Glu)
|
rs149180427
|
0.00002
|
|
NM_001999.4(FBN2):c.8497C>T (p.Arg2833Cys)
|
rs863223592
|
0.00002
|
|
NM_002334.4(LRP4):c.1058C>T (p.Thr353Met)
|
rs769661653
|
0.00002
|
|
NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys)
|
rs143207358
|
0.00002
|
|
NM_002334.4(LRP4):c.1472G>A (p.Arg491Gln)
|
rs774924956
|
0.00002
|
|
NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys)
|
rs749530671
|
0.00002
|
|
NM_002334.4(LRP4):c.2747G>A (p.Arg916His)
|
rs752315031
|
0.00002
|
|
NM_002334.4(LRP4):c.2767G>A (p.Gly923Ser)
|
rs765716290
|
0.00002
|
|
NM_002334.4(LRP4):c.2861A>G (p.Tyr954Cys)
|
rs775608977
|
0.00002
|
|
NM_002334.4(LRP4):c.2863G>A (p.Gly955Arg)
|
rs772232191
|
0.00002
|
|
NM_002334.4(LRP4):c.290A>C (p.Glu97Ala)
|
rs766174802
|
0.00002
|
|
NM_002334.4(LRP4):c.3701G>A (p.Arg1234Gln)
|
rs754092006
|
0.00002
|
|
NM_002334.4(LRP4):c.3709G>T (p.Ala1237Ser)
|
rs748719669
|
0.00002
|
|
NM_002334.4(LRP4):c.3895A>G (p.Met1299Val)
|
rs764853604
|
0.00002
|
|
NM_002334.4(LRP4):c.4082G>A (p.Arg1361His)
|
rs779038341
|
0.00002
|
|
NM_002334.4(LRP4):c.4505A>C (p.Asp1502Ala)
|
rs200506943
|
0.00002
|
|
NM_002334.4(LRP4):c.4762C>T (p.Arg1588Trp)
|
rs546318025
|
0.00002
|
|
NM_002334.4(LRP4):c.5132A>G (p.Asn1711Ser)
|
rs774058346
|
0.00002
|
|
NM_002334.4(LRP4):c.5179G>A (p.Ala1727Thr)
|
rs914781633
|
0.00002
|
|
NM_002334.4(LRP4):c.5186G>C (p.Gly1729Ala)
|
rs367608390
|
0.00002
|
|
NM_002334.4(LRP4):c.5378A>C (p.Lys1793Thr)
|
rs778676466
|
0.00002
|
|
NM_002334.4(LRP4):c.5654G>A (p.Arg1885Gln)
|
rs779079160
|
0.00002
|
|
NM_002334.4(LRP4):c.5669A>G (p.Asp1890Gly)
|
rs749482785
|
0.00002
|
|
NM_002334.4(LRP4):c.967C>T (p.Arg323Cys)
|
rs772004553
|
0.00002
|
|
NM_002968.3(SALL1):c.2452T>G (p.Phe818Val)
|
rs1297554616
|
0.00002
|
|
NM_002968.3(SALL1):c.2461C>G (p.Leu821Val)
|
rs766208261
|
0.00002
|
|
NM_003334.4(UBA1):c.1013A>G (p.Gln338Arg)
|
rs550631811
|
0.00002
|
|
NM_003334.4(UBA1):c.1052A>G (p.Asn351Ser)
|
rs782429883
|
0.00002
|
|
NM_003334.4(UBA1):c.1115C>A (p.Ala372Glu)
|
rs782051479
|
0.00002
|
|
NM_003334.4(UBA1):c.1117G>A (p.Val373Met)
|
rs782354395
|
0.00002
|
|
NM_003334.4(UBA1):c.1171G>A (p.Ala391Thr)
|
rs917269296
|
0.00002
|
|
NM_003334.4(UBA1):c.1318A>C (p.Thr440Pro)
|
rs1028156593
|
0.00002
|
|
NM_003334.4(UBA1):c.1775G>A (p.Arg592Gln)
|
rs1215231057
|
0.00002
|
|
NM_003334.4(UBA1):c.2540T>C (p.Ile847Thr)
|
rs1556793806
|
0.00002
|
|
NM_003334.4(UBA1):c.3133G>A (p.Gly1045Ser)
|
rs782451807
|
0.00002
|
|
NM_003334.4(UBA1):c.3170T>G (p.Ile1057Ser)
|
rs1164940967
|
0.00002
|
|
NM_003334.4(UBA1):c.499A>G (p.Thr167Ala)
|
rs781828163
|
0.00002
|
|
NM_003334.4(UBA1):c.575G>A (p.Arg192Gln)
|
rs782068633
|
0.00002
|
|
NM_003334.4(UBA1):c.741T>G (p.Phe247Leu)
|
rs1556788006
|
0.00002
|
|
NM_003334.4(UBA1):c.781G>A (p.Gly261Arg)
|
rs199512751
|
0.00002
|
|
NM_003334.4(UBA1):c.863G>A (p.Arg288His)
|
rs782554153
|
0.00002
|
|
NM_003334.4(UBA1):c.878G>A (p.Ser293Asn)
|
rs1365209491
|
0.00002
|
|
NM_004380.3(CREBBP):c.1824C>G (p.Leu608=)
|
rs753242611
|
0.00002
|
|
NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val)
|
rs182347573
|
0.00002
|
|
NM_004629.2(FANCG):c.1292T>G (p.Met431Arg)
|
rs759285011
|
0.00002
|
|
NM_004629.2(FANCG):c.1346C>T (p.Pro449Leu)
|
rs757442131
|
0.00002
|
|
NM_004629.2(FANCG):c.1702A>G (p.Thr568Ala)
|
rs750212705
|
0.00002
|
|
NM_004629.2(FANCG):c.458C>G (p.Ala153Gly)
|
rs200074432
|
0.00002
|
|
NM_004629.2(FANCG):c.635C>T (p.Ala212Val)
|
rs375754266
|
0.00002
|
|
NM_004629.2(FANCG):c.944G>A (p.Ser315Asn)
|
rs745833004
|
0.00002
|
|
NM_005055.5(RAPSN):c.1115A>G (p.Glu372Gly)
|
rs768059942
|
0.00002
|
|
NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln)
|
rs1380619456
|
0.00002
|
|
NM_005055.5(RAPSN):c.360G>T (p.Gln120His)
|
rs780338213
|
0.00002
|
|
NM_005055.5(RAPSN):c.475G>A (p.Ala159Thr)
|
rs199506866
|
0.00002
|
|
NM_005055.5(RAPSN):c.574C>T (p.Leu192Phe)
|
rs376041895
|
0.00002
|
|
NM_005055.5(RAPSN):c.650G>A (p.Arg217His)
|
rs763058066
|
0.00002
|
|
NM_005236.3(ERCC4):c.1019G>A (p.Arg340Gln)
|
rs753728949
|
0.00002
|
|
NM_005236.3(ERCC4):c.1379A>T (p.Lys460Met)
|
rs761301503
|
0.00002
|
|
NM_005236.3(ERCC4):c.143T>A (p.Phe48Tyr)
|
rs779538282
|
0.00002
|
|
NM_005236.3(ERCC4):c.1654A>G (p.Thr552Ala)
|
rs773850619
|
0.00002
|
|
NM_005236.3(ERCC4):c.2087C>T (p.Pro696Leu)
|
rs752894496
|
0.00002
|
|
NM_005236.3(ERCC4):c.2266G>A (p.Val756Met)
|
rs201501958
|
0.00002
|
|
NM_005236.3(ERCC4):c.256C>T (p.Arg86Cys)
|
rs769932063
|
0.00002
|
|
NM_005236.3(ERCC4):c.700A>C (p.Asn234His)
|
rs368218302
|
0.00002
|
|
NM_005236.3(ERCC4):c.875G>A (p.Arg292Gln)
|
rs202243691
|
0.00002
|
|
NM_005445.4(SMC3):c.2427+6T>C
|
rs779451107
|
0.00002
|
|
NM_005445.4(SMC3):c.3106-18A>G
|
rs372748192
|
0.00002
|
|
NM_005592.4(MUSK):c.1014C>A (p.Asn338Lys)
|
rs373175897
|
0.00002
|
|
NM_005592.4(MUSK):c.1148G>T (p.Ser383Ile)
|
rs571312240
|
0.00002
|
|
NM_005592.4(MUSK):c.1230G>C (p.Trp410Cys)
|
rs751972431
|
0.00002
|
|
NM_005592.4(MUSK):c.1363T>G (p.Tyr455Asp)
|
rs369240171
|
0.00002
|
|
NM_005592.4(MUSK):c.1400C>T (p.Thr467Met)
|
rs777107917
|
0.00002
|
|
NM_005592.4(MUSK):c.1657A>G (p.Met553Val)
|
rs753213086
|
0.00002
|
|
NM_005592.4(MUSK):c.1798T>A (p.Tyr600Asn)
|
rs147562871
|
0.00002
|
|
NM_005592.4(MUSK):c.1799A>G (p.Tyr600Cys)
|
rs760793449
|
0.00002
|
|
NM_005592.4(MUSK):c.2014C>T (p.Pro672Ser)
|
rs779042240
|
0.00002
|
|
NM_005592.4(MUSK):c.2077G>C (p.Gly693Arg)
|
rs1216581384
|
0.00002
|
|
NM_005592.4(MUSK):c.2447G>A (p.Arg816Gln)
|
rs764486887
|
0.00002
|
|
NM_005592.4(MUSK):c.2506C>T (p.Arg836Cys)
|
rs769657813
|
0.00002
|
|
NM_005592.4(MUSK):c.2561G>A (p.Arg854Gln)
|
rs754275653
|
0.00002
|
|
NM_005592.4(MUSK):c.2572C>T (p.Arg858Cys)
|
rs200450921
|
0.00002
|
|
NM_005592.4(MUSK):c.373C>T (p.Arg125Cys)
|
rs371157090
|
0.00002
|
|
NM_005592.4(MUSK):c.667G>A (p.Val223Ile)
|
rs774463260
|
0.00002
|
|
NM_005592.4(MUSK):c.857A>G (p.Asn286Ser)
|
rs747154421
|
0.00002
|
|
NM_006265.3(RAD21):c.1364T>C (p.Val455Ala)
|
rs373625369
|
0.00002
|
|
NM_006265.3(RAD21):c.1576G>C (p.Glu526Gln)
|
rs373026310
|
0.00002
|
|
NM_006306.4(SMC1A):c.1254+4G>A
|
rs781824288
|
0.00002
|
|
NM_006306.4(SMC1A):c.1545+5G>A
|
rs113714434
|
0.00002
|
|
NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu)
|
rs376589639
|
0.00002
|
|
NM_006306.4(SMC1A):c.2792A>G (p.Gln931Arg)
|
rs782728089
|
0.00002
|
|
NM_012243.3(SLC35A3):c.347C>T (p.Thr116Met)
|
rs774263178
|
0.00002
|
|
NM_012243.3(SLC35A3):c.74G>A (p.Arg25His)
|
rs903783945
|
0.00002
|
|
NM_013352.4(DSE):c.121G>A (p.Asp41Asn)
|
rs754763310
|
0.00002
|
|
NM_014918.5(CHSY1):c.1972A>G (p.Ile658Val)
|
rs570222707
|
0.00002
|
|
NM_014918.5(CHSY1):c.685C>T (p.Arg229Trp)
|
rs757906025
|
0.00002
|
|
NM_014918.5(CHSY1):c.686G>A (p.Arg229Gln)
|
rs757665488
|
0.00002
|
|
NM_014918.5(CHSY1):c.988C>T (p.Arg330Cys)
|
rs768914522
|
0.00002
|
|
NM_017617.5(NOTCH1):c.148G>A (p.Gly50Arg)
|
rs776758626
|
0.00002
|
|
NM_017617.5(NOTCH1):c.152C>A (p.Ala51Asp)
|
rs771954465
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1693G>A (p.Val565Met)
|
rs750330670
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2014+6C>T
|
rs529806324
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3269C>G (p.Thr1090Ser)
|
rs761508282
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3900C>T (p.Thr1300=)
|
rs201791826
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5023A>G (p.Ile1675Val)
|
rs375408767
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5050C>A (p.Gln1684Lys)
|
rs1843029493
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5471G>A (p.Arg1824Gln)
|
rs765309913
|
0.00002
|
|
NM_017617.5(NOTCH1):c.708G>A (p.Thr236=)
|
rs774679591
|
0.00002
|
|
NM_018062.4(FANCL):c.1024C>G (p.Leu342Val)
|
rs140758986
|
0.00002
|
|
NM_018062.4(FANCL):c.428C>T (p.Ala143Val)
|
rs756000370
|
0.00002
|
|
NM_018062.4(FANCL):c.500T>C (p.Val167Ala)
|
rs1338440311
|
0.00002
|
|
NM_018062.4(FANCL):c.677G>A (p.Arg226His)
|
rs745526326
|
0.00002
|
|
NM_018062.4(FANCL):c.810C>A (p.Asn270Lys)
|
rs750050199
|
0.00002
|
|
NM_018486.3(HDAC8):c.198G>T (p.Glu66Asp)
|
rs373199509
|
0.00002
|
|
NM_020937.4(FANCM):c.1009G>C (p.Ala337Pro)
|
rs1210888568
|
0.00002
|
|
NM_020937.4(FANCM):c.1043A>G (p.Asn348Ser)
|
rs369752557
|
0.00002
|
|
NM_020937.4(FANCM):c.1046T>C (p.Ile349Thr)
|
rs150185654
|
0.00002
|
|
NM_020937.4(FANCM):c.1131G>A (p.Met377Ile)
|
rs760935075
|
0.00002
|
|
NM_020937.4(FANCM):c.1255A>G (p.Met419Val)
|
rs552281088
|
0.00002
|
|
NM_020937.4(FANCM):c.1270C>T (p.Arg424Cys)
|
rs537833024
|
0.00002
|
|
NM_020937.4(FANCM):c.1420C>T (p.Arg474Cys)
|
rs999205481
|
0.00002
|
|
NM_020937.4(FANCM):c.1490C>T (p.Ser497Leu)
|
rs1226481393
|
0.00002
|
|
NM_020937.4(FANCM):c.1565A>G (p.Gln522Arg)
|
rs371569048
|
0.00002
|
|
NM_020937.4(FANCM):c.1702A>G (p.Ile568Val)
|
rs558763945
|
0.00002
|
|
NM_020937.4(FANCM):c.1822A>G (p.Ile608Val)
|
rs761833981
|
0.00002
|
|
NM_020937.4(FANCM):c.184T>C (p.Tyr62His)
|
rs746609446
|
0.00002
|
|
NM_020937.4(FANCM):c.1892A>G (p.Asp631Gly)
|
rs753713103
|
0.00002
|
|
NM_020937.4(FANCM):c.1915A>G (p.Lys639Glu)
|
rs745669373
|
0.00002
|
|
NM_020937.4(FANCM):c.1973G>A (p.Arg658Gln)
|
rs763495035
|
0.00002
|
|
NM_020937.4(FANCM):c.2085G>C (p.Arg695Ser)
|
rs368303133
|
0.00002
|
|
NM_020937.4(FANCM):c.2306G>A (p.Arg769Lys)
|
rs548624235
|
0.00002
|
|
NM_020937.4(FANCM):c.242C>T (p.Ala81Val)
|
rs538464580
|
0.00002
|
|
NM_020937.4(FANCM):c.2543C>G (p.Thr848Ser)
|
rs889187666
|
0.00002
|
|
NM_020937.4(FANCM):c.2575A>G (p.Lys859Glu)
|
rs188528606
|
0.00002
|
|
NM_020937.4(FANCM):c.2596C>T (p.Leu866Phe)
|
rs367576875
|
0.00002
|
|
NM_020937.4(FANCM):c.2734A>G (p.Ile912Val)
|
rs45568842
|
0.00002
|
|
NM_020937.4(FANCM):c.2758C>T (p.Pro920Ser)
|
rs750238406
|
0.00002
|
|
NM_020937.4(FANCM):c.2815G>A (p.Gly939Arg)
|
rs1037864411
|
0.00002
|
|
NM_020937.4(FANCM):c.2878T>C (p.Phe960Leu)
|
rs761671822
|
0.00002
|
|
NM_020937.4(FANCM):c.2890G>A (p.Glu964Lys)
|
rs200017450
|
0.00002
|
|
NM_020937.4(FANCM):c.2903A>G (p.Tyr968Cys)
|
rs752962214
|
0.00002
|
|
NM_020937.4(FANCM):c.2920G>A (p.Asp974Asn)
|
rs753999208
|
0.00002
|
|
NM_020937.4(FANCM):c.2968G>A (p.Val990Ile)
|
rs772477865
|
0.00002
|
|
NM_020937.4(FANCM):c.3137A>G (p.Gln1046Arg)
|
rs910679351
|
0.00002
|
|
NM_020937.4(FANCM):c.3173A>G (p.Asn1058Ser)
|
rs747787931
|
0.00002
|
|
NM_020937.4(FANCM):c.3347A>G (p.His1116Arg)
|
rs778621580
|
0.00002
|
|
NM_020937.4(FANCM):c.3355G>C (p.Asp1119His)
|
rs370618524
|
0.00002
|
|
NM_020937.4(FANCM):c.3436G>A (p.Asp1146Asn)
|
rs142077813
|
0.00002
|
|
NM_020937.4(FANCM):c.352A>G (p.Thr118Ala)
|
rs1227473930
|
0.00002
|
|
NM_020937.4(FANCM):c.3610C>T (p.Arg1204Cys)
|
rs763796272
|
0.00002
|
|
NM_020937.4(FANCM):c.3869C>T (p.Thr1290Ile)
|
rs759166551
|
0.00002
|
|
NM_020937.4(FANCM):c.3935T>C (p.Leu1312Pro)
|
rs200028975
|
0.00002
|
|
NM_020937.4(FANCM):c.4004A>C (p.Lys1335Thr)
|
rs765026410
|
0.00002
|
|
NM_020937.4(FANCM):c.4271G>A (p.Arg1424Gln)
|
rs1393856350
|
0.00002
|
|
NM_020937.4(FANCM):c.4292A>G (p.Lys1431Arg)
|
rs752438783
|
0.00002
|
|
NM_020937.4(FANCM):c.4440A>G (p.Gln1480=)
|
rs567425336
|
0.00002
|
|
NM_020937.4(FANCM):c.4483A>G (p.Ile1495Val)
|
rs765860916
|
0.00002
|
|
NM_020937.4(FANCM):c.4622C>T (p.Ser1541Leu)
|
rs776313378
|
0.00002
|
|
NM_020937.4(FANCM):c.4775C>T (p.Ser1592Leu)
|
rs759778560
|
0.00002
|
|
NM_020937.4(FANCM):c.4784C>A (p.Pro1595His)
|
rs750818919
|
0.00002
|
|
NM_020937.4(FANCM):c.4949A>T (p.Lys1650Ile)
|
rs140993629
|
0.00002
|
|
NM_020937.4(FANCM):c.497C>A (p.Ala166Asp)
|
rs555879731
|
0.00002
|
|
NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val)
|
rs759068569
|
0.00002
|
|
NM_020937.4(FANCM):c.5174A>G (p.Asn1725Ser)
|
rs765200148
|
0.00002
|
|
NM_020937.4(FANCM):c.5399C>A (p.Pro1800Gln)
|
rs1449697144
|
0.00002
|
|
NM_020937.4(FANCM):c.5407G>A (p.Ala1803Thr)
|
rs749034471
|
0.00002
|
|
NM_020937.4(FANCM):c.5419A>G (p.Thr1807Ala)
|
rs369834971
|
0.00002
|
|
NM_020937.4(FANCM):c.5581A>G (p.Met1861Val)
|
rs763226965
|
0.00002
|
|
NM_020937.4(FANCM):c.5631G>C (p.Lys1877Asn)
|
rs761269508
|
0.00002
|
|
NM_020937.4(FANCM):c.5668A>G (p.Met1890Val)
|
rs1413874546
|
0.00002
|
|
NM_020937.4(FANCM):c.5708A>G (p.Glu1903Gly)
|
rs569435551
|
0.00002
|
|
NM_020937.4(FANCM):c.5753A>G (p.Tyr1918Cys)
|
rs746039296
|
0.00002
|
|
NM_020937.4(FANCM):c.5849T>C (p.Leu1950Ser)
|
rs559661870
|
0.00002
|
|
NM_020937.4(FANCM):c.5887A>G (p.Thr1963Ala)
|
rs757062269
|
0.00002
|
|
NM_020937.4(FANCM):c.601G>A (p.Gly201Arg)
|
rs139736490
|
0.00002
|
|
NM_020937.4(FANCM):c.6068A>G (p.Tyr2023Cys)
|
rs750156990
|
0.00002
|
|
NM_020937.4(FANCM):c.6099A>G (p.Gln2033=)
|
rs757734261
|
0.00002
|
|
NM_020937.4(FANCM):c.637A>G (p.Ile213Val)
|
rs754976437
|
0.00002
|
|
NM_020937.4(FANCM):c.88G>C (p.Glu30Gln)
|
rs373268822
|
0.00002
|
|
NM_020937.4(FANCM):c.919-8A>G
|
rs781119621
|
0.00002
|
|
NM_021922.3(FANCE):c.1383+3G>A
|
rs752468400
|
0.00002
|
|
NM_021922.3(FANCE):c.1489A>G (p.Met497Val)
|
rs781338655
|
0.00002
|
|
NM_021922.3(FANCE):c.520G>C (p.Gly174Arg)
|
rs767509954
|
0.00002
|
|
NM_021922.3(FANCE):c.661C>T (p.Arg221Trp)
|
rs771767241
|
0.00002
|
|
NM_021922.3(FANCE):c.851T>C (p.Ile284Thr)
|
rs370661452
|
0.00002
|
|
NM_021922.3(FANCE):c.855+6T>G
|
rs1185107943
|
0.00002
|
|
NM_021922.3(FANCE):c.8C>T (p.Thr3Ile)
|
rs1405929258
|
0.00002
|
|
NM_021922.3(FANCE):c.953_958del (p.Glu318_Ser320delinsGly)
|
rs1475613789
|
0.00002
|
|
NM_022725.4(FANCF):c.134A>G (p.His45Arg)
|
rs767088554
|
0.00002
|
|
NM_022725.4(FANCF):c.268G>A (p.Asp90Asn)
|
rs370200638
|
0.00002
|
|
NM_022725.4(FANCF):c.58A>G (p.Thr20Ala)
|
rs1328802237
|
0.00002
|
|
NM_022725.4(FANCF):c.701G>A (p.Ser234Asn)
|
rs373273222
|
0.00002
|
|
NM_022725.4(FANCF):c.772G>A (p.Gly258Arg)
|
rs754977013
|
0.00002
|
|
NM_022725.4(FANCF):c.986T>C (p.Leu329Pro)
|
rs766964364
|
0.00002
|
|
NM_023110.3(FGFR1):c.193A>C (p.Asn65His)
|
rs768919123
|
0.00002
|
|
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His)
|
rs374473310
|
0.00002
|
|
NM_023110.3(FGFR1):c.322G>A (p.Gly108Ser)
|
rs1419947824
|
0.00002
|
|
NM_023110.3(FGFR1):c.451G>A (p.Val151Ile)
|
rs762665767
|
0.00002
|
|
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu)
|
rs145434725
|
0.00002
|
|
NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp)
|
rs587780225
|
0.00002
|
|
NM_032043.3(BRIP1):c.1377A>C (p.Arg459Ser)
|
rs780310294
|
0.00002
|
|
NM_032043.3(BRIP1):c.151G>A (p.Gly51Arg)
|
rs1603367704
|
0.00002
|
|
NM_032043.3(BRIP1):c.1759C>G (p.His587Asp)
|
rs876660519
|
0.00002
|
|
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met)
|
rs28997572
|
0.00002
|
|
NM_032043.3(BRIP1):c.2129C>T (p.Ser710Phe)
|
rs768393936
|
0.00002
|
|
NM_032043.3(BRIP1):c.2554A>G (p.Asn852Asp)
|
rs745782331
|
0.00002
|
|
NM_032043.3(BRIP1):c.2606A>G (p.Gln869Arg)
|
rs1060501733
|
0.00002
|
|
NM_032043.3(BRIP1):c.3064G>A (p.Glu1022Lys)
|
rs587782808
|
0.00002
|
|
NM_032043.3(BRIP1):c.3188C>T (p.Ser1063Leu)
|
rs575998972
|
0.00002
|
|
NM_032043.3(BRIP1):c.3191T>C (p.Phe1064Ser)
|
rs916937983
|
0.00002
|
|
NM_032043.3(BRIP1):c.3296T>G (p.Leu1099Arg)
|
rs772709195
|
0.00002
|
|
NM_032043.3(BRIP1):c.332C>A (p.Pro111Gln)
|
rs201790351
|
0.00002
|
|
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln)
|
rs587780248
|
0.00002
|
|
NM_032043.3(BRIP1):c.3334G>T (p.Asp1112Tyr)
|
rs968860042
|
0.00002
|
|
NM_032043.3(BRIP1):c.3349T>G (p.Ser1117Ala)
|
rs779860140
|
0.00002
|
|
NM_032043.3(BRIP1):c.362C>G (p.Thr121Ser)
|
rs777630298
|
0.00002
|
|
NM_032043.3(BRIP1):c.3676A>C (p.Thr1226Pro)
|
rs781140410
|
0.00002
|
|
NM_032043.3(BRIP1):c.386C>T (p.Pro129Leu)
|
rs587780831
|
0.00002
|
|
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser)
|
rs730881623
|
0.00002
|
|
NM_032043.3(BRIP1):c.397A>T (p.Thr133Ser)
|
rs764256720
|
0.00002
|
|
NM_032043.3(BRIP1):c.518G>A (p.Arg173His)
|
rs761432927
|
0.00002
|
|
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu)
|
rs565458815
|
0.00002
|
|
NM_032043.3(BRIP1):c.638A>G (p.His213Arg)
|
rs376760085
|
0.00002
|
|
NM_032043.3(BRIP1):c.661A>G (p.Thr221Ala)
|
rs777618772
|
0.00002
|
|
NM_032043.3(BRIP1):c.662C>G (p.Thr221Ser)
|
rs373774920
|
0.00002
|
|
NM_032043.3(BRIP1):c.713C>T (p.Thr238Ile)
|
rs745955726
|
0.00002
|
|
NM_032043.3(BRIP1):c.791G>A (p.Arg264Gln)
|
rs758360637
|
0.00002
|
|
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met)
|
rs550031006
|
0.00002
|
|
NM_032043.3(BRIP1):c.820A>G (p.Thr274Ala)
|
rs62620988
|
0.00002
|
|
NM_032043.3(BRIP1):c.859G>A (p.Glu287Lys)
|
rs1309409845
|
0.00002
|
|
NM_032444.4(SLX4):c.1150C>A (p.Pro384Thr)
|
rs778504083
|
0.00002
|
|
NM_032444.4(SLX4):c.1163+5G>T
|
rs762454252
|
0.00002
|
|
NM_032444.4(SLX4):c.1192C>T (p.Arg398Trp)
|
rs138799572
|
0.00002
|
|
NM_032444.4(SLX4):c.1234A>G (p.Lys412Glu)
|
rs774436086
|
0.00002
|
|
NM_032444.4(SLX4):c.1255G>A (p.Glu419Lys)
|
rs941244697
|
0.00002
|
|
NM_032444.4(SLX4):c.1335T>G (p.Ser445Arg)
|
rs904007909
|
0.00002
|
|
NM_032444.4(SLX4):c.1574G>A (p.Arg525His)
|
rs756369289
|
0.00002
|
|
NM_032444.4(SLX4):c.166G>A (p.Ala56Thr)
|
rs746769352
|
0.00002
|
|
NM_032444.4(SLX4):c.1991C>T (p.Pro664Leu)
|
rs369805557
|
0.00002
|
|
NM_032444.4(SLX4):c.1994A>G (p.Asp665Gly)
|
rs748574820
|
0.00002
|
|
NM_032444.4(SLX4):c.2144C>T (p.Pro715Leu)
|
rs749399683
|
0.00002
|
|
NM_032444.4(SLX4):c.2157G>T (p.Gln719His)
|
rs768316000
|
0.00002
|
|
NM_032444.4(SLX4):c.217G>C (p.Glu73Gln)
|
rs139829211
|
0.00002
|
|
NM_032444.4(SLX4):c.2246G>A (p.Arg749His)
|
rs140109914
|
0.00002
|
|
NM_032444.4(SLX4):c.2528A>C (p.Gln843Pro)
|
rs762300440
|
0.00002
|
|
NM_032444.4(SLX4):c.2767A>T (p.Met923Leu)
|
rs573280243
|
0.00002
|
|
NM_032444.4(SLX4):c.2843C>T (p.Ala948Val)
|
rs781462011
|
0.00002
|
|
NM_032444.4(SLX4):c.2950G>A (p.Glu984Lys)
|
rs750906921
|
0.00002
|
|
NM_032444.4(SLX4):c.3127G>A (p.Gly1043Arg)
|
rs776060270
|
0.00002
|
|
NM_032444.4(SLX4):c.3137G>A (p.Arg1046His)
|
rs1008752654
|
0.00002
|
|
NM_032444.4(SLX4):c.3166C>A (p.Leu1056Met)
|
rs773890423
|
0.00002
|
|
NM_032444.4(SLX4):c.3316G>A (p.Val1106Met)
|
rs200057338
|
0.00002
|
|
NM_032444.4(SLX4):c.3583A>G (p.Ile1195Val)
|
rs370761463
|
0.00002
|
|
NM_032444.4(SLX4):c.3677G>A (p.Arg1226Gln)
|
rs748607152
|
0.00002
|
|
NM_032444.4(SLX4):c.3872C>T (p.Thr1291Met)
|
rs754761366
|
0.00002
|
|
NM_032444.4(SLX4):c.3913G>A (p.Ala1305Thr)
|
rs763524714
|
0.00002
|
|
NM_032444.4(SLX4):c.3962C>T (p.Pro1321Leu)
|
rs778781581
|
0.00002
|
|
NM_032444.4(SLX4):c.3977C>T (p.Thr1326Ile)
|
rs371394594
|
0.00002
|
|
NM_032444.4(SLX4):c.3982G>A (p.Val1328Ile)
|
rs1394177026
|
0.00002
|
|
NM_032444.4(SLX4):c.401C>T (p.Ala134Val)
|
rs759574554
|
0.00002
|
|
NM_032444.4(SLX4):c.4021A>G (p.Arg1341Gly)
|
rs747230215
|
0.00002
|
|
NM_032444.4(SLX4):c.4069C>A (p.Leu1357Met)
|
rs775694333
|
0.00002
|
|
NM_032444.4(SLX4):c.4144A>G (p.Ser1382Gly)
|
rs767790750
|
0.00002
|
|
NM_032444.4(SLX4):c.4155C>G (p.Asn1385Lys)
|
rs1308197455
|
0.00002
|
|
NM_032444.4(SLX4):c.4427C>G (p.Thr1476Ser)
|
rs372321470
|
0.00002
|
|
NM_032444.4(SLX4):c.4484C>T (p.Ala1495Val)
|
rs777033175
|
0.00002
|
|
NM_032444.4(SLX4):c.4685C>T (p.Pro1562Leu)
|
rs1423103812
|
0.00002
|
|
NM_032444.4(SLX4):c.4715C>T (p.Pro1572Leu)
|
rs182432298
|
0.00002
|
|
NM_032444.4(SLX4):c.4870C>G (p.Pro1624Ala)
|
rs759305861
|
0.00002
|
|
NM_032444.4(SLX4):c.5060C>G (p.Pro1687Arg)
|
rs765960272
|
0.00002
|
|
NM_032444.4(SLX4):c.5093C>A (p.Ala1698Asp)
|
rs967813945
|
0.00002
|
|
NM_032444.4(SLX4):c.5242C>T (p.Gln1748Ter)
|
rs776789371
|
0.00002
|
|
NM_032444.4(SLX4):c.5423T>G (p.Phe1808Cys)
|
rs371390105
|
0.00002
|
|
NM_032444.4(SLX4):c.700G>A (p.Glu234Lys)
|
rs149779179
|
0.00002
|
|
NM_032444.4(SLX4):c.760+4T>C
|
rs552926547
|
0.00002
|
|
NM_032444.4(SLX4):c.802G>A (p.Val268Met)
|
rs1060501798
|
0.00002
|
|
NM_032444.4(SLX4):c.853G>A (p.Asp285Asn)
|
rs749002564
|
0.00002
|
|
NM_032444.4(SLX4):c.901A>C (p.Lys301Gln)
|
rs571996250
|
0.00002
|
|
NM_032634.4(PIGO):c.1069C>T (p.His357Tyr)
|
rs141121202
|
0.00002
|
|
NM_032634.4(PIGO):c.1127G>A (p.Arg376Gln)
|
rs768552303
|
0.00002
|
|
NM_032634.4(PIGO):c.1459G>A (p.Val487Met)
|
rs762885128
|
0.00002
|
|
NM_032634.4(PIGO):c.1460T>C (p.Val487Ala)
|
rs750242299
|
0.00002
|
|
NM_032634.4(PIGO):c.1619C>A (p.Ala540Glu)
|
rs1488869656
|
0.00002
|
|
NM_032634.4(PIGO):c.1721C>G (p.Pro574Arg)
|
rs558371613
|
0.00002
|
|
NM_032634.4(PIGO):c.1723T>G (p.Phe575Val)
|
rs769087057
|
0.00002
|
|
NM_032634.4(PIGO):c.17T>C (p.Val6Ala)
|
rs767770355
|
0.00002
|
|
NM_032634.4(PIGO):c.1831A>G (p.Thr611Ala)
|
rs774281466
|
0.00002
|
|
NM_032634.4(PIGO):c.2066G>A (p.Arg689His)
|
rs771748735
|
0.00002
|
|
NM_032634.4(PIGO):c.236G>A (p.Arg79Gln)
|
rs759013444
|
0.00002
|
|
NM_032634.4(PIGO):c.2383T>C (p.Tyr795His)
|
rs760038249
|
0.00002
|
|
NM_032634.4(PIGO):c.3113T>G (p.Leu1038Arg)
|
rs761199326
|
0.00002
|
|
NM_032634.4(PIGO):c.3178G>A (p.Val1060Met)
|
rs551920425
|
0.00002
|
|
NM_032634.4(PIGO):c.599A>G (p.Asn200Ser)
|
rs755621448
|
0.00002
|
|
NM_032634.4(PIGO):c.646T>C (p.Tyr216His)
|
rs372754217
|
0.00002
|
|
NM_032634.4(PIGO):c.859G>A (p.Gly287Arg)
|
rs780295527
|
0.00002
|
|
NM_058216.3(RAD51C):c.106G>A (p.Glu36Lys)
|
rs773998134
|
0.00002
|
|
NM_058216.3(RAD51C):c.1117G>A (p.Glu373Lys)
|
rs1433497291
|
0.00002
|
|
NM_058216.3(RAD51C):c.354G>C (p.Met118Ile)
|
rs768238518
|
0.00002
|
|
NM_058216.3(RAD51C):c.397C>G (p.Gln133Glu)
|
rs387907159
|
0.00002
|
|
NM_058216.3(RAD51C):c.451G>A (p.Val151Met)
|
rs753912045
|
0.00002
|
|
NM_058216.3(RAD51C):c.481G>C (p.Glu161Gln)
|
rs768903850
|
0.00002
|
|
NM_058216.3(RAD51C):c.537C>A (p.His179Gln)
|
rs372385738
|
0.00002
|
|
NM_058216.3(RAD51C):c.704A>C (p.Lys235Thr)
|
rs748043225
|
0.00002
|
|
NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr)
|
rs539341386
|
0.00002
|
|
NM_058216.3(RAD51C):c.746G>A (p.Arg249His)
|
rs730881925
|
0.00002
|
|
NM_058216.3(RAD51C):c.778C>T (p.Arg260Trp)
|
rs374196453
|
0.00002
|
|
NM_058216.3(RAD51C):c.923C>G (p.Ala308Gly)
|
rs786203498
|
0.00002
|
|
NM_130468.4(CHST14):c.138G>C (p.Met46Ile)
|
rs1466102278
|
0.00002
|
|
NM_130468.4(CHST14):c.143C>T (p.Ala48Val)
|
rs780919131
|
0.00002
|
|
NM_130468.4(CHST14):c.173T>C (p.Leu58Pro)
|
rs749135787
|
0.00002
|
|
NM_130468.4(CHST14):c.196G>A (p.Ala66Thr)
|
rs1394541294
|
0.00002
|
|
NM_130468.4(CHST14):c.250C>A (p.Arg84Ser)
|
rs561964206
|
0.00002
|
|
NM_130468.4(CHST14):c.293G>A (p.Gly98Glu)
|
rs770839880
|
0.00002
|
|
NM_130468.4(CHST14):c.501G>C (p.Lys167Asn)
|
rs763410236
|
0.00002
|
|
NM_130468.4(CHST14):c.592G>A (p.Glu198Lys)
|
rs781430388
|
0.00002
|
|
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln)
|
rs556002453
|
0.00002
|
|
NM_133433.4(NIPBL):c.1228A>G (p.Ile410Val)
|
rs141010980
|
0.00002
|
|
NM_133433.4(NIPBL):c.1234C>T (p.Arg412Cys)
|
rs571300383
|
0.00002
|
|
NM_133433.4(NIPBL):c.2515A>G (p.Arg839Gly)
|
rs780665254
|
0.00002
|
|
NM_133433.4(NIPBL):c.3112T>A (p.Ser1038Thr)
|
rs747918239
|
0.00002
|
|
NM_133433.4(NIPBL):c.3362A>T (p.Asp1121Val)
|
rs1223302517
|
0.00002
|
|
NM_133433.4(NIPBL):c.5762A>G (p.Asn1921Ser)
|
rs587783983
|
0.00002
|
|
NM_133433.4(NIPBL):c.6988C>G (p.Pro2330Ala)
|
rs764147606
|
0.00002
|
|
NM_147127.5(EVC2):c.1092G>A (p.Met364Ile)
|
rs769447796
|
0.00002
|
|
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp)
|
rs368371226
|
0.00002
|
|
NM_147127.5(EVC2):c.1499G>A (p.Arg500Gln)
|
rs770644264
|
0.00002
|
|
NM_147127.5(EVC2):c.1567G>T (p.Ala523Ser)
|
rs200622704
|
0.00002
|
|
NM_147127.5(EVC2):c.2180G>A (p.Arg727His)
|
rs140363692
|
0.00002
|
|
NM_147127.5(EVC2):c.2681A>T (p.Gln894Leu)
|
rs556658594
|
0.00002
|
|
NM_147127.5(EVC2):c.2732G>A (p.Arg911Gln)
|
rs767317898
|
0.00002
|
|
NM_147127.5(EVC2):c.3055C>T (p.Arg1019Trp)
|
rs139610006
|
0.00002
|
|
NM_147127.5(EVC2):c.3827G>T (p.Arg1276Ile)
|
rs751725959
|
0.00002
|
|
NM_147127.5(EVC2):c.663G>T (p.Arg221Ser)
|
rs753207027
|
0.00002
|
|
NM_147127.5(EVC2):c.869C>T (p.Thr290Met)
|
rs149414427
|
0.00002
|
|
NM_153717.3(EVC):c.1303C>T (p.Arg435Cys)
|
rs756430334
|
0.00002
|
|
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu)
|
rs376440801
|
0.00002
|
|
NM_153717.3(EVC):c.187C>G (p.Gln63Glu)
|
rs371329240
|
0.00002
|
|
NM_153717.3(EVC):c.188A>G (p.Gln63Arg)
|
rs772017175
|
0.00002
|
|
NM_153717.3(EVC):c.2516G>A (p.Arg839Lys)
|
rs745451709
|
0.00002
|
|
NM_153717.3(EVC):c.2770C>T (p.Arg924Cys)
|
rs772327981
|
0.00002
|
|
NM_153717.3(EVC):c.409C>A (p.Pro137Thr)
|
rs752906200
|
0.00002
|
|
NM_153717.3(EVC):c.626T>C (p.Val209Ala)
|
rs1230866971
|
0.00002
|
|
NM_173660.5(DOK7):c.1169C>T (p.Pro390Leu)
|
rs1418197383
|
0.00002
|
|
NM_173660.5(DOK7):c.1180G>A (p.Glu394Lys)
|
rs751691265
|
0.00002
|
|
NM_173660.5(DOK7):c.1226G>A (p.Arg409His)
|
rs377528603
|
0.00002
|
|
NM_173660.5(DOK7):c.1244C>G (p.Pro415Arg)
|
rs142510199
|
0.00002
|
|
NM_173660.5(DOK7):c.1289C>T (p.Ala430Val)
|
rs745414274
|
0.00002
|
|
NM_173660.5(DOK7):c.1417G>A (p.Glu473Lys)
|
rs1359635065
|
0.00002
|
|
NM_173660.5(DOK7):c.1447G>T (p.Gly483Trp)
|
rs915179362
|
0.00002
|
|
NM_173660.5(DOK7):c.326G>A (p.Gly109Asp)
|
rs1319317420
|
0.00002
|
|
NM_173660.5(DOK7):c.557C>T (p.Ser186Leu)
|
rs772577244
|
0.00002
|
|
NM_173660.5(DOK7):c.623G>T (p.Gly208Val)
|
rs572714394
|
0.00002
|
|
NM_173660.5(DOK7):c.65G>A (p.Arg22Lys)
|
rs756962738
|
0.00002
|
|
NM_173660.5(DOK7):c.689G>A (p.Arg230His)
|
rs760941977
|
0.00002
|
|
NM_173660.5(DOK7):c.773-2_773-1del
|
rs770163440
|
0.00002
|
|
NM_173660.5(DOK7):c.847G>A (p.Ala283Thr)
|
rs139429423
|
0.00002
|
|
NM_173660.5(DOK7):c.86C>T (p.Pro29Leu)
|
rs1478257270
|
0.00002
|
|
NM_173660.5(DOK7):c.914A>G (p.Gln305Arg)
|
rs747816956
|
0.00002
|
|
NM_173660.5(DOK7):c.97G>T (p.Ala33Ser)
|
rs1425852835
|
0.00002
|
|
NM_000079.4(CHRNA1):c.1006T>G (p.Phe336Val)
|
rs755304714
|
0.00001
|
|
NM_000079.4(CHRNA1):c.102C>A (p.Asp34Glu)
|
rs377254749
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1045A>G (p.Met349Val)
|
rs760175390
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1097T>C (p.Ile366Thr)
|
rs942359952
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1182T>A (p.Ser394Arg)
|
rs776811077
|
0.00001
|
|
NM_000079.4(CHRNA1):c.118C>T (p.Arg40Trp)
|
rs774423842
|
0.00001
|
|
NM_000079.4(CHRNA1):c.119G>A (p.Arg40Gln)
|
rs1180739514
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1244C>T (p.Ala415Val)
|
rs200394375
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1245G>A (p.Ala415=)
|
rs372181669
|
0.00001
|
|
NM_000079.4(CHRNA1):c.124G>T (p.Val42Leu)
|
rs1376655390
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1264G>A (p.Val422Ile)
|
rs754320308
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1288C>T (p.Leu430Phe)
|
rs759664482
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1318A>G (p.Ile440Val)
|
rs1479795714
|
0.00001
|
|
NM_000079.4(CHRNA1):c.157G>A (p.Val53Met)
|
rs779877755
|
0.00001
|
|
NM_000079.4(CHRNA1):c.177G>C (p.Gln59His)
|
rs199899006
|
0.00001
|
|
NM_000079.4(CHRNA1):c.265C>G (p.Pro89Ala)
|
rs912456299
|
0.00001
|
|
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)
|
rs779169597
|
0.00001
|
|
NM_000079.4(CHRNA1):c.314T>C (p.Ile105Thr)
|
rs764809207
|
0.00001
|
|
NM_000079.4(CHRNA1):c.344+6C>A
|
rs1438960872
|
0.00001
|
|
NM_000079.4(CHRNA1):c.35T>C (p.Leu12Pro)
|
rs765824911
|
0.00001
|
|
NM_000079.4(CHRNA1):c.418C>T (p.Pro140Ser)
|
rs1235810008
|
0.00001
|
|
NM_000079.4(CHRNA1):c.439T>C (p.Tyr147His)
|
rs1224199250
|
0.00001
|
|
NM_000079.4(CHRNA1):c.449T>G (p.Ile150Ser)
|
rs1040313532
|
0.00001
|
|
NM_000079.4(CHRNA1):c.450C>G (p.Ile150Met)
|
rs200163630
|
0.00001
|
|
NM_000079.4(CHRNA1):c.454G>A (p.Val152Ile)
|
rs137852807
|
0.00001
|
|
NM_000079.4(CHRNA1):c.514G>A (p.Asp172Asn)
|
rs1232135247
|
0.00001
|
|
NM_000079.4(CHRNA1):c.526G>A (p.Val176Met)
|
rs137852799
|
0.00001
|
|
NM_000079.4(CHRNA1):c.580G>A (p.Gly194Arg)
|
rs201147926
|
0.00001
|
|
NM_000079.4(CHRNA1):c.594C>G (p.Ile198Met)
|
rs1054392349
|
0.00001
|
|
NM_000079.4(CHRNA1):c.685C>T (p.Arg229Cys)
|
rs745355427
|
0.00001
|
|
NM_000079.4(CHRNA1):c.706G>A (p.Val236Ile)
|
rs1332781017
|
0.00001
|
|
NM_000079.4(CHRNA1):c.749G>A (p.Gly250Asp)
|
rs1261346012
|
0.00001
|
|
NM_000079.4(CHRNA1):c.838A>G (p.Ile280Val)
|
rs1184577812
|
0.00001
|
|
NM_000079.4(CHRNA1):c.860C>T (p.Thr287Met)
|
rs370345788
|
0.00001
|
|
NM_000135.4(FANCA):c.1010C>G (p.Ser337Cys)
|
rs374835951
|
0.00001
|
|
NM_000135.4(FANCA):c.107A>G (p.Asn36Ser)
|
rs1210459454
|
0.00001
|
|
NM_000135.4(FANCA):c.109C>T (p.Pro37Ser)
|
rs780833865
|
0.00001
|
|
NM_000135.4(FANCA):c.1141A>G (p.Thr381Ala)
|
rs774319222
|
0.00001
|
|
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe)
|
rs751071791
|
0.00001
|
|
NM_000135.4(FANCA):c.1153C>T (p.His385Tyr)
|
rs757760966
|
0.00001
|
|
NM_000135.4(FANCA):c.1158G>T (p.Trp386Cys)
|
rs752864343
|
0.00001
|
|
NM_000135.4(FANCA):c.1211A>G (p.Gln404Arg)
|
rs769664248
|
0.00001
|
|
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr)
|
rs912838333
|
0.00001
|
|
NM_000135.4(FANCA):c.1247C>A (p.Ala416Asp)
|
rs750689577
|
0.00001
|
|
NM_000135.4(FANCA):c.1251G>T (p.Gln417His)
|
rs779068860
|
0.00001
|
|
NM_000135.4(FANCA):c.1265G>A (p.Cys422Tyr)
|
rs759128726
|
0.00001
|
|
NM_000135.4(FANCA):c.1279A>G (p.Met427Val)
|
rs368103890
|
0.00001
|
|
NM_000135.4(FANCA):c.1289C>T (p.Ala430Val)
|
rs772567344
|
0.00001
|
|
NM_000135.4(FANCA):c.1297G>A (p.Val433Ile)
|
rs753987812
|
0.00001
|
|
NM_000135.4(FANCA):c.133G>A (p.Glu45Lys)
|
rs142990858
|
0.00001
|
|
NM_000135.4(FANCA):c.1348G>A (p.Asp450Asn)
|
rs1262122499
|
0.00001
|
|
NM_000135.4(FANCA):c.136T>C (p.Ser46Pro)
|
rs2041098152
|
0.00001
|
|
NM_000135.4(FANCA):c.1398C>G (p.Ser466Arg)
|
rs565303230
|
0.00001
|
|
NM_000135.4(FANCA):c.1404G>C (p.Lys468Asn)
|
rs755713516
|
0.00001
|
|
NM_000135.4(FANCA):c.1460G>A (p.Arg487Gln)
|
rs377637236
|
0.00001
|
|
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys)
|
rs748907151
|
0.00001
|
|
NM_000135.4(FANCA):c.1471-3C>G
|
rs1291307989
|
0.00001
|
|
NM_000135.4(FANCA):c.1480C>T (p.Leu494Phe)
|
rs1060501886
|
0.00001
|
|
NM_000135.4(FANCA):c.1498C>T (p.Pro500Ser)
|
rs776371246
|
0.00001
|
|
NM_000135.4(FANCA):c.1513T>G (p.Ser505Ala)
|
rs1218121624
|
0.00001
|
|
NM_000135.4(FANCA):c.1558G>A (p.Asp520Asn)
|
rs754123446
|
0.00001
|
|
NM_000135.4(FANCA):c.158G>C (p.Ser53Thr)
|
rs761614742
|
0.00001
|
|
NM_000135.4(FANCA):c.160C>T (p.His54Tyr)
|
rs1383572316
|
0.00001
|
|
NM_000135.4(FANCA):c.1622C>A (p.Thr541Asn)
|
rs775853544
|
0.00001
|
|
NM_000135.4(FANCA):c.1654G>A (p.Glu552Lys)
|
rs1012809189
|
0.00001
|
|
NM_000135.4(FANCA):c.1667T>C (p.Met556Thr)
|
rs750091512
|
0.00001
|
|
NM_000135.4(FANCA):c.1690A>C (p.Ile564Leu)
|
rs1032990637
|
0.00001
|
|
NM_000135.4(FANCA):c.1798C>T (p.Arg600Cys)
|
rs765036744
|
0.00001
|
|
NM_000135.4(FANCA):c.1808T>C (p.Phe603Ser)
|
rs766939940
|
0.00001
|
|
NM_000135.4(FANCA):c.1827-3C>T
|
rs772236777
|
0.00001
|
|
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg)
|
rs777736014
|
0.00001
|
|
NM_000135.4(FANCA):c.1882G>A (p.Ala628Thr)
|
rs766422868
|
0.00001
|
|
NM_000135.4(FANCA):c.1901A>G (p.Asp634Gly)
|
rs151232042
|
0.00001
|
|
NM_000135.4(FANCA):c.1902T>G (p.Asp634Glu)
|
rs187300458
|
0.00001
|
|
NM_000135.4(FANCA):c.1906G>C (p.Ala636Pro)
|
rs1236146369
|
0.00001
|
|
NM_000135.4(FANCA):c.1930A>T (p.Asn644Tyr)
|
rs1293899212
|
0.00001
|
|
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe)
|
rs776682683
|
0.00001
|
|
NM_000135.4(FANCA):c.2018T>C (p.Ile673Thr)
|
rs1319264119
|
0.00001
|
|
NM_000135.4(FANCA):c.2066G>A (p.Gly689Asp)
|
rs769209218
|
0.00001
|
|
NM_000135.4(FANCA):c.209A>G (p.Lys70Arg)
|
rs55692229
|
0.00001
|
|
NM_000135.4(FANCA):c.2111T>A (p.Leu704His)
|
rs1239942003
|
0.00001
|
|
NM_000135.4(FANCA):c.2114G>A (p.Ser705Asn)
|
rs762616165
|
0.00001
|
|
NM_000135.4(FANCA):c.2141G>A (p.Arg714Gln)
|
rs1054636249
|
0.00001
|
|
NM_000135.4(FANCA):c.2146C>A (p.His716Asn)
|
rs754896727
|
0.00001
|
|
NM_000135.4(FANCA):c.2147A>G (p.His716Arg)
|
rs751474452
|
0.00001
|
|
NM_000135.4(FANCA):c.2149A>G (p.Met717Val)
|
rs766173155
|
0.00001
|
|
NM_000135.4(FANCA):c.2180G>A (p.Cys727Tyr)
|
rs1425954290
|
0.00001
|
|
NM_000135.4(FANCA):c.2182C>G (p.Gln728Glu)
|
rs780192381
|
0.00001
|
|
NM_000135.4(FANCA):c.2186A>G (p.Asn729Ser)
|
rs1440861257
|
0.00001
|
|
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly)
|
rs886052485
|
0.00001
|
|
NM_000135.4(FANCA):c.220C>G (p.Leu74Val)
|
rs770294560
|
0.00001
|
|
NM_000135.4(FANCA):c.2210C>T (p.Ala737Val)
|
rs199938598
|
0.00001
|
|
NM_000135.4(FANCA):c.2218G>A (p.Glu740Lys)
|
rs536086288
|
0.00001
|
|
NM_000135.4(FANCA):c.2239G>T (p.Ala747Ser)
|
rs931143821
|
0.00001
|
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
0.00001
|
|
NM_000135.4(FANCA):c.2305C>G (p.Leu769Val)
|
rs917707717
|
0.00001
|
|
NM_000135.4(FANCA):c.2333C>T (p.Ala778Val)
|
rs777163986
|
0.00001
|
|
NM_000135.4(FANCA):c.2336C>T (p.Pro779Leu)
|
rs1400044983
|
0.00001
|
|
NM_000135.4(FANCA):c.2407G>A (p.Val803Met)
|
rs769083458
|
0.00001
|
|
NM_000135.4(FANCA):c.2417C>T (p.Pro806Leu)
|
rs1352100383
|
0.00001
|
|
NM_000135.4(FANCA):c.2419G>A (p.Ala807Thr)
|
rs2039263876
|
0.00001
|
|
NM_000135.4(FANCA):c.2420C>T (p.Ala807Val)
|
rs144570744
|
0.00001
|
|
NM_000135.4(FANCA):c.2435T>G (p.Leu812Arg)
|
rs749326662
|
0.00001
|
|
NM_000135.4(FANCA):c.2437C>T (p.Pro813Ser)
|
rs2039263207
|
0.00001
|
|
NM_000135.4(FANCA):c.2450T>A (p.Leu817His)
|
rs1307805145
|
0.00001
|
|
NM_000135.4(FANCA):c.2456A>T (p.Asp819Val)
|
rs976586387
|
0.00001
|
|
NM_000135.4(FANCA):c.2459G>A (p.Ser820Asn)
|
rs1339411422
|
0.00001
|
|
NM_000135.4(FANCA):c.2467A>T (p.Thr823Ser)
|
rs1292223325
|
0.00001
|
|
NM_000135.4(FANCA):c.2474G>A (p.Arg825Lys)
|
rs751222471
|
0.00001
|
|
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr)
|
rs886052484
|
0.00001
|
|
NM_000135.4(FANCA):c.2573G>C (p.Ser858Thr)
|
rs1291169859
|
0.00001
|
|
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe)
|
rs980582362
|
0.00001
|
|
NM_000135.4(FANCA):c.2594T>G (p.Ile865Ser)
|
rs1331781220
|
0.00001
|
|
NM_000135.4(FANCA):c.260C>G (p.Ala87Gly)
|
rs758619078
|
0.00001
|
|
NM_000135.4(FANCA):c.2611C>G (p.Leu871Val)
|
rs779617838
|
0.00001
|
|
NM_000135.4(FANCA):c.2651C>G (p.Ser884Cys)
|
rs776492214
|
0.00001
|
|
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys)
|
rs587778316
|
0.00001
|
|
NM_000135.4(FANCA):c.2696C>T (p.Pro899Leu)
|
rs1424540726
|
0.00001
|
|
NM_000135.4(FANCA):c.2704G>C (p.Asp902His)
|
rs1009521389
|
0.00001
|
|
NM_000135.4(FANCA):c.2716G>A (p.Ala906Thr)
|
rs763769211
|
0.00001
|
|
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr)
|
rs748454613
|
0.00001
|
|
NM_000135.4(FANCA):c.2750G>A (p.Arg917Gln)
|
rs747220449
|
0.00001
|
|
NM_000135.4(FANCA):c.2800C>A (p.His934Asn)
|
rs774871582
|
0.00001
|
|
NM_000135.4(FANCA):c.2817T>G (p.Ile939Met)
|
rs769970040
|
0.00001
|
|
NM_000135.4(FANCA):c.2873C>T (p.Ala958Val)
|
rs1374262828
|
0.00001
|
|
NM_000135.4(FANCA):c.2879A>G (p.His960Arg)
|
rs1460469198
|
0.00001
|
|
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu)
|
rs779162871
|
0.00001
|
|
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val)
|
rs773070418
|
0.00001
|
|
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)
|
rs191943709
|
0.00001
|
|
NM_000135.4(FANCA):c.2947A>T (p.Ile983Phe)
|
rs375312389
|
0.00001
|
|
NM_000135.4(FANCA):c.294G>T (p.Leu98Phe)
|
rs751380220
|
0.00001
|
|
NM_000135.4(FANCA):c.2959G>A (p.Ala987Thr)
|
rs752735858
|
0.00001
|
|
NM_000135.4(FANCA):c.2974C>T (p.His992Tyr)
|
rs967438026
|
0.00001
|
|
NM_000135.4(FANCA):c.2975A>T (p.His992Leu)
|
rs184007986
|
0.00001
|
|
NM_000135.4(FANCA):c.3047A>G (p.Asp1016Gly)
|
rs1303235237
|
0.00001
|
|
NM_000135.4(FANCA):c.3065A>G (p.Gln1022Arg)
|
rs933911279
|
0.00001
|
|
NM_000135.4(FANCA):c.3077C>T (p.Ala1026Val)
|
rs545999415
|
0.00001
|
|
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr)
|
rs771174892
|
0.00001
|
|
NM_000135.4(FANCA):c.3125C>T (p.Pro1042Leu)
|
rs1173497525
|
0.00001
|
|
NM_000135.4(FANCA):c.3136C>T (p.His1046Tyr)
|
rs747913731
|
0.00001
|
|
NM_000135.4(FANCA):c.3173C>T (p.Ala1058Val)
|
rs370873098
|
0.00001
|
|
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala)
|
rs764893807
|
0.00001
|
|
NM_000135.4(FANCA):c.3189G>C (p.Trp1063Cys)
|
rs776391208
|
0.00001
|
|
NM_000135.4(FANCA):c.3215A>G (p.Gln1072Arg)
|
rs1013239803
|
0.00001
|
|
NM_000135.4(FANCA):c.3231G>A (p.Met1077Ile)
|
rs2038515231
|
0.00001
|
|
NM_000135.4(FANCA):c.3238C>T (p.Arg1080Trp)
|
rs760392231
|
0.00001
|
|
NM_000135.4(FANCA):c.3250C>T (p.Arg1084Cys)
|
rs764206631
|
0.00001
|
|
NM_000135.4(FANCA):c.3268C>T (p.Leu1090Phe)
|
rs1567603054
|
0.00001
|
|
NM_000135.4(FANCA):c.3367G>A (p.Gly1123Arg)
|
rs1437529209
|
0.00001
|
|
NM_000135.4(FANCA):c.3373G>A (p.Ala1125Thr)
|
rs1162813981
|
0.00001
|
|
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu)
|
rs1439817346
|
0.00001
|
|
NM_000135.4(FANCA):c.3389T>C (p.Ile1130Thr)
|
rs2038408218
|
0.00001
|
|
NM_000135.4(FANCA):c.338C>T (p.Ser113Leu)
|
rs149903404
|
0.00001
|
|
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg)
|
rs769824282
|
0.00001
|
|
NM_000135.4(FANCA):c.353C>T (p.Ala118Val)
|
rs1201642328
|
0.00001
|
|
NM_000135.4(FANCA):c.3623G>A (p.Ser1208Asn)
|
rs1351484293
|
0.00001
|
|
NM_000135.4(FANCA):c.3626+4C>T
|
rs772166806
|
0.00001
|
|
NM_000135.4(FANCA):c.3646G>A (p.Ala1216Thr)
|
rs1262639465
|
0.00001
|
|
NM_000135.4(FANCA):c.3658C>T (p.Pro1220Ser)
|
rs773150877
|
0.00001
|
|
NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr)
|
rs751899346
|
0.00001
|
|
NM_000135.4(FANCA):c.3750C>G (p.Asp1250Glu)
|
rs777313447
|
0.00001
|
|
NM_000135.4(FANCA):c.3754G>A (p.Glu1252Lys)
|
rs766875357
|
0.00001
|
|
NM_000135.4(FANCA):c.3754G>C (p.Glu1252Gln)
|
rs766875357
|
0.00001
|
|
NM_000135.4(FANCA):c.3809C>T (p.Ser1270Leu)
|
rs752800577
|
0.00001
|
|
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val)
|
rs759514393
|
0.00001
|
|
NM_000135.4(FANCA):c.3838G>A (p.Asp1280Asn)
|
rs914045767
|
0.00001
|
|
NM_000135.4(FANCA):c.3849G>T (p.Lys1283Asn)
|
rs749869884
|
0.00001
|
|
NM_000135.4(FANCA):c.3893G>C (p.Arg1298Thr)
|
rs1261384324
|
0.00001
|
|
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp)
|
rs200215131
|
0.00001
|
|
NM_000135.4(FANCA):c.3953T>G (p.Leu1318Arg)
|
rs1439125894
|
0.00001
|
|
NM_000135.4(FANCA):c.4019C>T (p.Ser1340Phe)
|
rs112734327
|
0.00001
|
|
NM_000135.4(FANCA):c.4051G>C (p.Glu1351Gln)
|
rs761934804
|
0.00001
|
|
NM_000135.4(FANCA):c.4098G>C (p.Gln1366His)
|
rs1041491550
|
0.00001
|
|
NM_000135.4(FANCA):c.4099C>G (p.Leu1367Val)
|
rs2062056417
|
0.00001
|
|
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=)
|
rs1060501882
|
0.00001
|
|
NM_000135.4(FANCA):c.4159A>G (p.Lys1387Glu)
|
rs1436768029
|
0.00001
|
|
NM_000135.4(FANCA):c.4167+2C>T
|
rs374765708
|
0.00001
|
|
NM_000135.4(FANCA):c.4186A>G (p.Ile1396Val)
|
rs1376923890
|
0.00001
|
|
NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met)
|
rs1441175300
|
0.00001
|
|
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His)
|
rs147406377
|
0.00001
|
|
NM_000135.4(FANCA):c.4298G>A (p.Ser1433Asn)
|
rs747310276
|
0.00001
|
|
NM_000135.4(FANCA):c.4337C>T (p.Ala1446Val)
|
rs2062029094
|
0.00001
|
|
NM_000135.4(FANCA):c.475A>G (p.Ser159Gly)
|
rs770716257
|
0.00001
|
|
NM_000135.4(FANCA):c.47G>A (p.Gly16Glu)
|
rs908258968
|
0.00001
|
|
NM_000135.4(FANCA):c.487C>T (p.Arg163Cys)
|
rs747651383
|
0.00001
|
|
NM_000135.4(FANCA):c.488G>A (p.Arg163His)
|
rs375648811
|
0.00001
|
|
NM_000135.4(FANCA):c.499T>C (p.Cys167Arg)
|
rs1449541412
|
0.00001
|
|
NM_000135.4(FANCA):c.549G>T (p.Trp183Cys)
|
rs758528624
|
0.00001
|
|
NM_000135.4(FANCA):c.55C>T (p.Arg19Trp)
|
rs1300733063
|
0.00001
|
|
NM_000135.4(FANCA):c.563A>G (p.Gln188Arg)
|
rs763736133
|
0.00001
|
|
NM_000135.4(FANCA):c.571G>T (p.Val191Leu)
|
rs1429483489
|
0.00001
|
|
NM_000135.4(FANCA):c.596+5C>T
|
rs758345423
|
0.00001
|
|
NM_000135.4(FANCA):c.660G>C (p.Gln220His)
|
rs1555571174
|
0.00001
|
|
NM_000135.4(FANCA):c.676C>G (p.Gln226Glu)
|
rs1598177148
|
0.00001
|
|
NM_000135.4(FANCA):c.700A>G (p.Met234Val)
|
rs1042676101
|
0.00001
|
|
NM_000135.4(FANCA):c.769G>A (p.Val257Met)
|
rs777311234
|
0.00001
|
|
NM_000135.4(FANCA):c.7G>C (p.Asp3His)
|
rs1246636933
|
0.00001
|
|
NM_000135.4(FANCA):c.838G>A (p.Ala280Thr)
|
rs1010833101
|
0.00001
|
|
NM_000135.4(FANCA):c.839C>T (p.Ala280Val)
|
rs767092317
|
0.00001
|
|
NM_000135.4(FANCA):c.876C>G (p.His292Gln)
|
rs527897404
|
0.00001
|
|
NM_000135.4(FANCA):c.882C>G (p.Ile294Met)
|
rs754520622
|
0.00001
|
|
NM_000135.4(FANCA):c.8A>C (p.Asp3Ala)
|
rs1183087111
|
0.00001
|
|
NM_000135.4(FANCA):c.908G>A (p.Ser303Asn)
|
rs1060501877
|
0.00001
|
|
NM_000135.4(FANCA):c.911G>C (p.Gly304Ala)
|
rs745451374
|
0.00001
|
|
NM_000135.4(FANCA):c.917C>T (p.Thr306Met)
|
rs370852532
|
0.00001
|
|
NM_000135.4(FANCA):c.92A>G (p.Lys31Arg)
|
rs2041101472
|
0.00001
|
|
NM_000135.4(FANCA):c.982C>G (p.Leu328Val)
|
rs779244841
|
0.00001
|
|
NM_000136.3(FANCC):c.-2A>G
|
rs773045474
|
0.00001
|
|
NM_000136.3(FANCC):c.-79+1G>A
|
rs1228886763
|
0.00001
|
|
NM_000136.3(FANCC):c.1001G>A (p.Arg334Gln)
|
rs377468919
|
0.00001
|
|
NM_000136.3(FANCC):c.1019A>G (p.Tyr340Cys)
|
rs746828156
|
0.00001
|
|
NM_000136.3(FANCC):c.1030A>G (p.Thr344Ala)
|
rs1228873579
|
0.00001
|
|
NM_000136.3(FANCC):c.104G>C (p.Cys35Ser)
|
rs143212932
|
0.00001
|
|
NM_000136.3(FANCC):c.1063G>C (p.Asp355His)
|
rs587778325
|
0.00001
|
|
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu)
|
rs759900071
|
0.00001
|
|
NM_000136.3(FANCC):c.1079C>T (p.Pro360Leu)
|
rs730881721
|
0.00001
|
|
NM_000136.3(FANCC):c.1082G>A (p.Arg361Gln)
|
rs761336987
|
0.00001
|
|
NM_000136.3(FANCC):c.1090T>C (p.Trp364Arg)
|
rs771694972
|
0.00001
|
|
NM_000136.3(FANCC):c.109C>G (p.His37Asp)
|
rs864622230
|
0.00001
|
|
NM_000136.3(FANCC):c.112G>A (p.Val38Met)
|
rs778951584
|
0.00001
|
|
NM_000136.3(FANCC):c.1146G>C (p.Gln382His)
|
rs770809637
|
0.00001
|
|
NM_000136.3(FANCC):c.1150C>T (p.His384Tyr)
|
rs1383057170
|
0.00001
|
|
NM_000136.3(FANCC):c.1151A>G (p.His384Arg)
|
rs577302082
|
0.00001
|
|
NM_000136.3(FANCC):c.1201G>A (p.Gly401Arg)
|
rs730881722
|
0.00001
|
|
NM_000136.3(FANCC):c.1252C>T (p.Pro418Ser)
|
rs1284061457
|
0.00001
|
|
NM_000136.3(FANCC):c.1291G>A (p.Gly431Ser)
|
rs1588047887
|
0.00001
|
|
NM_000136.3(FANCC):c.1297C>T (p.Arg433Cys)
|
rs369684405
|
0.00001
|
|
NM_000136.3(FANCC):c.1298G>A (p.Arg433His)
|
rs768676102
|
0.00001
|
|
NM_000136.3(FANCC):c.1310A>G (p.Gln437Arg)
|
rs912537449
|
0.00001
|
|
NM_000136.3(FANCC):c.1327A>G (p.Met443Val)
|
rs150941781
|
0.00001
|
|
NM_000136.3(FANCC):c.1351G>A (p.Gly451Ser)
|
rs141805918
|
0.00001
|
|
NM_000136.3(FANCC):c.1355A>G (p.His452Arg)
|
rs1224625808
|
0.00001
|
|
NM_000136.3(FANCC):c.1358T>A (p.Leu453His)
|
rs1490551416
|
0.00001
|
|
NM_000136.3(FANCC):c.1366A>G (p.Met456Val)
|
rs1554828443
|
0.00001
|
|
NM_000136.3(FANCC):c.1379G>A (p.Ser460Asn)
|
rs748938789
|
0.00001
|
|
NM_000136.3(FANCC):c.143T>C (p.Met48Thr)
|
rs1353498563
|
0.00001
|
|
NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser)
|
rs1415434775
|
0.00001
|
|
NM_000136.3(FANCC):c.1513G>A (p.Ala505Thr)
|
rs780179187
|
0.00001
|
|
NM_000136.3(FANCC):c.1562A>C (p.Glu521Ala)
|
rs781445050
|
0.00001
|
|
NM_000136.3(FANCC):c.1567A>G (p.Ile523Val)
|
rs1235875394
|
0.00001
|
|
NM_000136.3(FANCC):c.1568T>C (p.Ile523Thr)
|
rs1554827151
|
0.00001
|
|
NM_000136.3(FANCC):c.1570G>A (p.Gly524Ser)
|
rs755289392
|
0.00001
|
|
NM_000136.3(FANCC):c.160G>A (p.Glu54Lys)
|
rs1564794487
|
0.00001
|
|
NM_000136.3(FANCC):c.1622C>T (p.Pro541Leu)
|
rs1554827120
|
0.00001
|
|
NM_000136.3(FANCC):c.1633A>G (p.Lys545Glu)
|
rs1064793496
|
0.00001
|
|
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg)
|
rs571668582
|
0.00001
|
|
NM_000136.3(FANCC):c.166-4_166-1dup
|
rs746016938
|
0.00001
|
|
NM_000136.3(FANCC):c.1664G>A (p.Arg555Gln)
|
rs369636116
|
0.00001
|
|
NM_000136.3(FANCC):c.176C>T (p.Thr59Ile)
|
rs149566909
|
0.00001
|
|
NM_000136.3(FANCC):c.209T>A (p.Leu70Gln)
|
rs150174412
|
0.00001
|
|
NM_000136.3(FANCC):c.239T>C (p.Ile80Thr)
|
rs4647419
|
0.00001
|
|
NM_000136.3(FANCC):c.262A>C (p.Lys88Gln)
|
rs1060502519
|
0.00001
|
|
NM_000136.3(FANCC):c.271A>G (p.Ile91Val)
|
rs771619614
|
0.00001
|
|
NM_000136.3(FANCC):c.278G>A (p.Cys93Tyr)
|
rs774029807
|
0.00001
|
|
NM_000136.3(FANCC):c.290T>C (p.Leu97Pro)
|
rs1223097554
|
0.00001
|
|
NM_000136.3(FANCC):c.329T>C (p.Leu110Pro)
|
rs777731560
|
0.00001
|
|
NM_000136.3(FANCC):c.345G>A (p.Gln115=)
|
rs1031713372
|
0.00001
|
|
NM_000136.3(FANCC):c.347G>A (p.Gly116Asp)
|
rs1282106098
|
0.00001
|
|
NM_000136.3(FANCC):c.397C>T (p.Leu133Phe)
|
rs587779906
|
0.00001
|
|
NM_000136.3(FANCC):c.407A>C (p.Gln136Pro)
|
rs1180924540
|
0.00001
|
|
NM_000136.3(FANCC):c.436_438del (p.Tyr146del)
|
rs761347179
|
0.00001
|
|
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu)
|
rs730881711
|
0.00001
|
|
NM_000136.3(FANCC):c.46A>G (p.Met16Val)
|
rs1390412870
|
0.00001
|
|
NM_000136.3(FANCC):c.472G>C (p.Ala158Pro)
|
rs372338418
|
0.00001
|
|
NM_000136.3(FANCC):c.521+5G>C
|
rs1301899973
|
0.00001
|
|
NM_000136.3(FANCC):c.526G>C (p.Ala176Pro)
|
rs767389988
|
0.00001
|
|
NM_000136.3(FANCC):c.530C>T (p.Pro177Leu)
|
rs1208450171
|
0.00001
|
|
NM_000136.3(FANCC):c.532G>A (p.Glu178Lys)
|
rs554302947
|
0.00001
|
|
NM_000136.3(FANCC):c.536G>A (p.Arg179Gln)
|
rs538875706
|
0.00001
|
|
NM_000136.3(FANCC):c.542C>T (p.Ala181Val)
|
rs182879858
|
0.00001
|
|
NM_000136.3(FANCC):c.551C>T (p.Ser184Leu)
|
rs746367952
|
0.00001
|
|
NM_000136.3(FANCC):c.571A>C (p.Ile191Leu)
|
rs752429169
|
0.00001
|
|
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr)
|
rs767302089
|
0.00001
|
|
NM_000136.3(FANCC):c.625C>T (p.Arg209Cys)
|
rs373270404
|
0.00001
|
|
NM_000136.3(FANCC):c.635A>G (p.Gln212Arg)
|
rs1445499474
|
0.00001
|
|
NM_000136.3(FANCC):c.650C>T (p.Pro217Leu)
|
rs730881714
|
0.00001
|
|
NM_000136.3(FANCC):c.656T>A (p.Phe219Tyr)
|
rs1588181383
|
0.00001
|
|
NM_000136.3(FANCC):c.668T>C (p.Val223Ala)
|
rs751410815
|
0.00001
|
|
NM_000136.3(FANCC):c.679A>G (p.Ile227Val)
|
rs864622550
|
0.00001
|
|
NM_000136.3(FANCC):c.706A>G (p.Met236Val)
|
rs771319430
|
0.00001
|
|
NM_000136.3(FANCC):c.739C>T (p.Leu247Phe)
|
rs1554835099
|
0.00001
|
|
NM_000136.3(FANCC):c.76T>A (p.Ser26Thr)
|
rs1165230596
|
0.00001
|
|
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg)
|
rs730881717
|
0.00001
|
|
NM_000136.3(FANCC):c.802T>A (p.Cys268Ser)
|
rs730881718
|
0.00001
|
|
NM_000136.3(FANCC):c.823T>C (p.Phe275Leu)
|
rs745621828
|
0.00001
|
|
NM_000136.3(FANCC):c.835T>A (p.Ser279Thr)
|
rs757190154
|
0.00001
|
|
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu)
|
rs749230615
|
0.00001
|
|
NM_000136.3(FANCC):c.851C>T (p.Ala284Val)
|
rs201281511
|
0.00001
|
|
NM_000136.3(FANCC):c.871T>C (p.Phe291Leu)
|
rs769649289
|
0.00001
|
|
NM_000136.3(FANCC):c.875G>A (p.Arg292Gln)
|
rs747060782
|
0.00001
|
|
NM_000136.3(FANCC):c.897-3C>T
|
rs1057521714
|
0.00001
|
|
NM_000136.3(FANCC):c.897G>T (p.Arg299Ser)
|
rs759083348
|
0.00001
|
|
NM_000136.3(FANCC):c.8A>C (p.Gln3Pro)
|
rs1415268424
|
0.00001
|
|
NM_000136.3(FANCC):c.916G>A (p.Asp306Asn)
|
rs772992002
|
0.00001
|
|
NM_000136.3(FANCC):c.917A>T (p.Asp306Val)
|
rs1383010376
|
0.00001
|
|
NM_000136.3(FANCC):c.943A>G (p.Ile315Val)
|
rs587779910
|
0.00001
|
|
NM_000136.3(FANCC):c.956C>T (p.Thr319Met)
|
rs745910444
|
0.00001
|
|
NM_000136.3(FANCC):c.996+6T>C
|
rs200934877
|
0.00001
|
|
NM_000136.3(FANCC):c.998T>C (p.Leu333Pro)
|
rs864622191
|
0.00001
|
|
NM_000474.4(TWIST1):c.134G>A (p.Ser45Asn)
|
rs2522202
|
0.00001
|
|
NM_000474.4(TWIST1):c.250G>A (p.Gly84Ser)
|
rs1310233431
|
0.00001
|
|
NM_000474.4(TWIST1):c.316C>G (p.Leu106Val)
|
rs1230428800
|
0.00001
|
|
NM_000474.4(TWIST1):c.70C>G (p.Pro24Ala)
|
rs559821440
|
0.00001
|
|
NM_000751.3(CHRND):c.1084T>A (p.Ser362Thr)
|
rs778769803
|
0.00001
|
|
NM_000751.3(CHRND):c.1088G>A (p.Arg363His)
|
rs748108743
|
0.00001
|
|
NM_000751.3(CHRND):c.1199T>C (p.Met400Thr)
|
rs774443865
|
0.00001
|
|
NM_000751.3(CHRND):c.1200G>C (p.Met400Ile)
|
rs1691804529
|
0.00001
|
|
NM_000751.3(CHRND):c.1235G>A (p.Arg412Lys)
|
rs1011570439
|
0.00001
|
|
NM_000751.3(CHRND):c.1237C>T (p.Arg413Cys)
|
rs1242056715
|
0.00001
|
|
NM_000751.3(CHRND):c.1330T>C (p.Phe444Leu)
|
rs772140028
|
0.00001
|
|
NM_000751.3(CHRND):c.1334T>C (p.Ile445Thr)
|
rs573680102
|
0.00001
|
|
NM_000751.3(CHRND):c.136G>A (p.Ala46Thr)
|
rs1085307559
|
0.00001
|
|
NM_000751.3(CHRND):c.1462A>G (p.Ile488Val)
|
rs1317082231
|
0.00001
|
|
NM_000751.3(CHRND):c.1544G>A (p.Arg515His)
|
rs570911554
|
0.00001
|
|
NM_000751.3(CHRND):c.155T>A (p.Val52Glu)
|
rs1260266473
|
0.00001
|
|
NM_000751.3(CHRND):c.172C>T (p.Leu58Phe)
|
rs752410720
|
0.00001
|
|
NM_000751.3(CHRND):c.236T>A (p.Ile79Lys)
|
rs121909509
|
0.00001
|
|
NM_000751.3(CHRND):c.244G>A (p.Gly82Ser)
|
rs794727630
|
0.00001
|
|
NM_000751.3(CHRND):c.314C>T (p.Pro105Leu)
|
rs769160054
|
0.00001
|
|
NM_000751.3(CHRND):c.380A>G (p.Tyr127Cys)
|
rs1231032358
|
0.00001
|
|
NM_000751.3(CHRND):c.446C>T (p.Ser149Phe)
|
rs762904291
|
0.00001
|
|
NM_000751.3(CHRND):c.524C>T (p.Thr175Met)
|
rs752113659
|
0.00001
|
|
NM_000751.3(CHRND):c.571C>T (p.Arg191Cys)
|
rs778217557
|
0.00001
|
|
NM_000751.3(CHRND):c.647G>A (p.Arg216Gln)
|
rs746959201
|
0.00001
|
|
NM_000751.3(CHRND):c.662A>G (p.Asn221Ser)
|
rs774497252
|
0.00001
|
|
NM_000751.3(CHRND):c.723C>G (p.Ile241Met)
|
rs1416558563
|
0.00001
|
|
NM_000751.3(CHRND):c.823G>A (p.Gly275Ser)
|
rs373187583
|
0.00001
|
|
NM_000751.3(CHRND):c.88C>T (p.Arg30Trp)
|
rs1047325384
|
0.00001
|
|
NM_000751.3(CHRND):c.890A>G (p.Lys297Arg)
|
rs187055404
|
0.00001
|
|
NM_000751.3(CHRND):c.899C>A (p.Pro300His)
|
rs145981548
|
0.00001
|
|
NM_000751.3(CHRND):c.932+3G>A
|
rs772540464
|
0.00001
|
|
NM_000751.3(CHRND):c.957G>A (p.Leu319=)
|
rs1691699126
|
0.00001
|
|
NM_001018113.3(FANCB):c.1105A>G (p.Ser369Gly)
|
rs1422244944
|
0.00001
|
|
NM_001018113.3(FANCB):c.1120T>C (p.Cys374Arg)
|
rs781251036
|
0.00001
|
|
NM_001018113.3(FANCB):c.113C>T (p.Thr38Ile)
|
rs2092465105
|
0.00001
|
|
NM_001018113.3(FANCB):c.1160G>A (p.Arg387His)
|
rs757202355
|
0.00001
|
|
NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln)
|
rs753030842
|
0.00001
|
|
NM_001018113.3(FANCB):c.1318G>A (p.Ala440Thr)
|
rs1313938907
|
0.00001
|
|
NM_001018113.3(FANCB):c.1342C>A (p.Pro448Thr)
|
rs867778700
|
0.00001
|
|
NM_001018113.3(FANCB):c.1441C>T (p.Arg481Cys)
|
rs2092396737
|
0.00001
|
|
NM_001018113.3(FANCB):c.1582A>G (p.Ile528Val)
|
rs749342600
|
0.00001
|
|
NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser)
|
rs773313492
|
0.00001
|
|
NM_001018113.3(FANCB):c.1610C>T (p.Ala537Val)
|
rs752804063
|
0.00001
|
|
NM_001018113.3(FANCB):c.1670A>T (p.Asp557Val)
|
rs1336185048
|
0.00001
|
|
NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp)
|
rs773221142
|
0.00001
|
|
NM_001018113.3(FANCB):c.1736C>T (p.Thr579Ile)
|
rs771950360
|
0.00001
|
|
NM_001018113.3(FANCB):c.1763T>C (p.Leu588Ser)
|
rs1298952108
|
0.00001
|
|
NM_001018113.3(FANCB):c.1785C>G (p.Cys595Trp)
|
rs1317998053
|
0.00001
|
|
NM_001018113.3(FANCB):c.17C>A (p.Ala6Glu)
|
rs780032769
|
0.00001
|
|
NM_001018113.3(FANCB):c.1957G>A (p.Ala653Thr)
|
rs1220308530
|
0.00001
|
|
NM_001018113.3(FANCB):c.1972T>A (p.Ser658Thr)
|
rs1440633578
|
0.00001
|
|
NM_001018113.3(FANCB):c.2015T>C (p.Met672Thr)
|
rs377268147
|
0.00001
|
|
NM_001018113.3(FANCB):c.2019G>C (p.Lys673Asn)
|
rs1416043928
|
0.00001
|
|
NM_001018113.3(FANCB):c.2098T>C (p.Phe700Leu)
|
rs1232355920
|
0.00001
|
|
NM_001018113.3(FANCB):c.2117C>T (p.Thr706Ile)
|
rs1278850689
|
0.00001
|
|
NM_001018113.3(FANCB):c.2144G>T (p.Gly715Val)
|
rs1389308960
|
0.00001
|
|
NM_001018113.3(FANCB):c.2159A>G (p.Tyr720Cys)
|
rs758926056
|
0.00001
|
|
NM_001018113.3(FANCB):c.2173A>G (p.Thr725Ala)
|
rs765112491
|
0.00001
|
|
NM_001018113.3(FANCB):c.2218A>G (p.Ile740Val)
|
rs746453967
|
0.00001
|
|
NM_001018113.3(FANCB):c.2293A>G (p.Lys765Glu)
|
rs767721906
|
0.00001
|
|
NM_001018113.3(FANCB):c.2420A>C (p.Glu807Ala)
|
rs1020168794
|
0.00001
|
|
NM_001018113.3(FANCB):c.2438G>T (p.Arg813Ile)
|
rs995483698
|
0.00001
|
|
NM_001018113.3(FANCB):c.2521A>G (p.Lys841Glu)
|
rs767194178
|
0.00001
|
|
NM_001018113.3(FANCB):c.341G>A (p.Ser114Asn)
|
rs1254494594
|
0.00001
|
|
NM_001018113.3(FANCB):c.361C>T (p.Arg121Cys)
|
rs145928137
|
0.00001
|
|
NM_001018113.3(FANCB):c.440T>C (p.Val147Ala)
|
rs757074045
|
0.00001
|
|
NM_001018113.3(FANCB):c.521G>A (p.Gly174Glu)
|
rs1316359856
|
0.00001
|
|
NM_001018113.3(FANCB):c.526A>T (p.Ile176Phe)
|
rs1208436363
|
0.00001
|
|
NM_001018113.3(FANCB):c.587G>A (p.Cys196Tyr)
|
rs1366041068
|
0.00001
|
|
NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln)
|
rs747819351
|
0.00001
|
|
NM_001018113.3(FANCB):c.662A>G (p.Glu221Gly)
|
rs1265222877
|
0.00001
|
|
NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu)
|
rs374217132
|
0.00001
|
|
NM_001018113.3(FANCB):c.814A>G (p.Thr272Ala)
|
rs769701122
|
0.00001
|
|
NM_001018113.3(FANCB):c.898G>T (p.Val300Phe)
|
rs757610875
|
0.00001
|
|
NM_001018113.3(FANCB):c.910A>G (p.Ile304Val)
|
rs754238911
|
0.00001
|
|
NM_001018113.3(FANCB):c.923C>T (p.Ala308Val)
|
rs1242186487
|
0.00001
|
|
NM_001018113.3(FANCB):c.959C>A (p.Ala320Asp)
|
rs1246382467
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1132A>G (p.Lys378Glu)
|
rs1171804978
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1235T>C (p.Ile412Thr)
|
rs148255762
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1250T>C (p.Leu417Pro)
|
rs1369011648
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1310C>T (p.Ser437Leu)
|
rs1349417700
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1325T>G (p.Leu442Trp)
|
rs1400034764
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1343A>G (p.Gln448Arg)
|
rs777539464
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1366C>A (p.Leu456Ile)
|
rs780374375
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1400C>T (p.Thr467Met)
|
rs760246372
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1465G>A (p.Val489Ile)
|
rs761454597
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1516G>A (p.Ala506Thr)
|
rs767699213
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1519A>G (p.Met507Val)
|
rs376708399
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1589G>A (p.Arg530Gln)
|
rs1249790407
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1699G>A (p.Val567Ile)
|
rs773483393
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1835C>T (p.Ser612Phe)
|
rs760516842
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1864G>A (p.Glu622Lys)
|
rs375951862
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1895A>G (p.Tyr632Cys)
|
rs770231582
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1903T>C (p.Phe635Leu)
|
rs1179966779
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1912C>G (p.Leu638Val)
|
rs760324486
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1993G>A (p.Val665Ile)
|
rs774405864
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2170T>G (p.Leu724Val)
|
rs201243424
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2179C>T (p.Pro727Ser)
|
rs911843298
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2203C>T (p.Arg735Trp)
|
rs752621186
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln)
|
rs755975980
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2269+3A>G
|
rs1246708998
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2270A>G (p.Asp757Gly)
|
rs779060030
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2351C>T (p.Ser784Phe)
|
rs1398046806
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2366C>T (p.Thr789Ile)
|
rs1263342232
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2376G>C (p.Trp792Cys)
|
rs752013429
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2420A>T (p.Glu807Val)
|
rs1305213202
|
0.00001
|
|
NM_001018115.3(FANCD2):c.251G>A (p.Arg84Lys)
|
rs375506300
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2632A>C (p.Lys878Gln)
|
rs780018258
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2730G>T (p.Lys910Asn)
|
rs369241246
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2745_2747del (p.Leu918del)
|
rs1232274352
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2810A>G (p.His937Arg)
|
rs746389067
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2860-6T>A
|
rs772531991
|
0.00001
|
|
NM_001018115.3(FANCD2):c.289G>A (p.Val97Ile)
|
rs1480379325
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2926C>A (p.Leu976Met)
|
rs753809948
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2989C>T (p.Arg997Trp)
|
rs587778330
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2990G>A (p.Arg997Gln)
|
rs587778331
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3248A>G (p.Asn1083Ser)
|
rs1180577651
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3313C>G (p.Gln1105Glu)
|
rs1694168766
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3347A>G (p.His1116Arg)
|
rs548876750
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3400C>T (p.Leu1134Phe)
|
rs587778332
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3416T>C (p.Met1139Thr)
|
rs755205321
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3418G>A (p.Val1140Ile)
|
rs988476435
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3527A>G (p.Asn1176Ser)
|
rs764205355
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3607A>T (p.Ile1203Phe)
|
rs373757862
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3638A>G (p.Asn1213Ser)
|
rs771903324
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3639C>G (p.Asn1213Lys)
|
rs780098296
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3646A>G (p.Lys1216Glu)
|
rs367552677
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3710T>C (p.Val1237Ala)
|
rs767806932
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3751C>G (p.Pro1251Ala)
|
rs568515612
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3770C>T (p.Ser1257Leu)
|
rs374940277
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3772C>G (p.Gln1258Glu)
|
rs994778998
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3775C>A (p.Gln1259Lys)
|
rs1407465957
|
0.00001
|
|
NM_001018115.3(FANCD2):c.382G>T (p.Gly128Cys)
|
rs772201181
|
0.00001
|
|
NM_001018115.3(FANCD2):c.38A>G (p.Lys13Arg)
|
rs756078235
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4048G>A (p.Asp1350Asn)
|
rs772169028
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4133A>G (p.Asn1378Ser)
|
rs1452379242
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4137T>A (p.Asn1379Lys)
|
rs752376206
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4163A>G (p.Asn1388Ser)
|
rs745472884
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4189G>A (p.Glu1397Lys)
|
rs753272541
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4233G>C (p.Glu1411Asp)
|
rs61753270
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4281+121C>T
|
rs764865805
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4281+22_4281+29del
|
rs878855172
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4281+69G>A
|
rs754606069
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4281+71G>A
|
rs568997706
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4281+77C>T
|
rs748421381
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4281+91G>A
|
rs771414227
|
0.00001
|
|
NM_001018115.3(FANCD2):c.439-3T>C
|
rs771998947
|
0.00001
|
|
NM_001018115.3(FANCD2):c.461T>C (p.Phe154Ser)
|
rs200668378
|
0.00001
|
|
NM_001018115.3(FANCD2):c.521G>A (p.Arg174Gln)
|
rs41291203
|
0.00001
|
|
NM_001018115.3(FANCD2):c.586A>G (p.Ile196Val)
|
rs779216164
|
0.00001
|
|
NM_001018115.3(FANCD2):c.58G>A (p.Ala20Thr)
|
rs1338392055
|
0.00001
|
|
NM_001018115.3(FANCD2):c.65-3C>T
|
rs1461324891
|
0.00001
|
|
NM_001018115.3(FANCD2):c.704T>C (p.Leu235Pro)
|
rs760574880
|
0.00001
|
|
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)
|
rs778289599
|
0.00001
|
|
NM_001018115.3(FANCD2):c.805A>C (p.Lys269Gln)
|
rs747977469
|
0.00001
|
|
NM_001018115.3(FANCD2):c.812C>T (p.Ser271Leu)
|
rs766821340
|
0.00001
|
|
NM_001018115.3(FANCD2):c.908A>G (p.Glu303Gly)
|
rs367824549
|
0.00001
|
|
NM_001018115.3(FANCD2):c.976A>G (p.Lys326Glu)
|
rs183778817
|
0.00001
|
|
NM_001113378.2(FANCI):c.1039T>C (p.Ser347Pro)
|
rs1289791231
|
0.00001
|
|
NM_001113378.2(FANCI):c.1055A>G (p.Asn352Ser)
|
rs565007212
|
0.00001
|
|
NM_001113378.2(FANCI):c.1138C>G (p.Gln380Glu)
|
rs748470270
|
0.00001
|
|
NM_001113378.2(FANCI):c.1148T>C (p.Val383Ala)
|
rs1012254525
|
0.00001
|
|
NM_001113378.2(FANCI):c.1305G>A (p.Met435Ile)
|
rs1390853875
|
0.00001
|
|
NM_001113378.2(FANCI):c.13A>G (p.Ile5Val)
|
rs200186938
|
0.00001
|
|
NM_001113378.2(FANCI):c.1406A>G (p.Tyr469Cys)
|
rs756206080
|
0.00001
|
|
NM_001113378.2(FANCI):c.1411C>G (p.Pro471Ala)
|
rs1287849752
|
0.00001
|
|
NM_001113378.2(FANCI):c.1420C>A (p.Leu474Ile)
|
rs746777753
|
0.00001
|
|
NM_001113378.2(FANCI):c.1442T>G (p.Val481Gly)
|
rs775192850
|
0.00001
|
|
NM_001113378.2(FANCI):c.1477C>T (p.Leu493Phe)
|
rs2053603881
|
0.00001
|
|
NM_001113378.2(FANCI):c.1510C>A (p.Gln504Lys)
|
rs554471987
|
0.00001
|
|
NM_001113378.2(FANCI):c.1514C>T (p.Pro505Leu)
|
rs773105092
|
0.00001
|
|
NM_001113378.2(FANCI):c.1519C>T (p.Leu507Phe)
|
rs762294213
|
0.00001
|
|
NM_001113378.2(FANCI):c.1698+6G>T
|
rs762886638
|
0.00001
|
|
NM_001113378.2(FANCI):c.16T>G (p.Leu6Val)
|
rs748018574
|
0.00001
|
|
NM_001113378.2(FANCI):c.1787G>A (p.Ser596Asn)
|
rs754190768
|
0.00001
|
|
NM_001113378.2(FANCI):c.1805G>A (p.Arg602Gln)
|
rs201641791
|
0.00001
|
|
NM_001113378.2(FANCI):c.1821+5G>A
|
rs769718753
|
0.00001
|
|
NM_001113378.2(FANCI):c.1976C>T (p.Ser659Phe)
|
rs776139524
|
0.00001
|
|
NM_001113378.2(FANCI):c.1A>G (p.Met1Val)
|
rs781249928
|
0.00001
|
|
NM_001113378.2(FANCI):c.2017C>T (p.His673Tyr)
|
rs763866498
|
0.00001
|
|
NM_001113378.2(FANCI):c.2033A>G (p.Tyr678Cys)
|
rs916935359
|
0.00001
|
|
NM_001113378.2(FANCI):c.2051C>T (p.Pro684Leu)
|
rs779276973
|
0.00001
|
|
NM_001113378.2(FANCI):c.2057A>G (p.Gln686Arg)
|
rs772393046
|
0.00001
|
|
NM_001113378.2(FANCI):c.2063G>A (p.Gly688Glu)
|
rs778157971
|
0.00001
|
|
NM_001113378.2(FANCI):c.2098G>A (p.Glu700Lys)
|
rs199615501
|
0.00001
|
|
NM_001113378.2(FANCI):c.2114T>C (p.Ile705Thr)
|
rs760554629
|
0.00001
|
|
NM_001113378.2(FANCI):c.2131A>T (p.Asn711Tyr)
|
rs766073258
|
0.00001
|
|
NM_001113378.2(FANCI):c.2169+8C>G
|
rs534051118
|
0.00001
|
|
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe)
|
rs138808921
|
0.00001
|
|
NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile)
|
rs757610698
|
0.00001
|
|
NM_001113378.2(FANCI):c.2204T>C (p.Ile735Thr)
|
rs911033971
|
0.00001
|
|
NM_001113378.2(FANCI):c.2212A>G (p.Lys738Glu)
|
rs1423332049
|
0.00001
|
|
NM_001113378.2(FANCI):c.2224T>C (p.Cys742Arg)
|
rs770611634
|
0.00001
|
|
NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu)
|
rs754443451
|
0.00001
|
|
NM_001113378.2(FANCI):c.2341C>A (p.Leu781Ile)
|
rs560692029
|
0.00001
|
|
NM_001113378.2(FANCI):c.2350A>C (p.Ile784Leu)
|
rs1421332670
|
0.00001
|
|
NM_001113378.2(FANCI):c.2393A>G (p.Asn798Ser)
|
rs548409550
|
0.00001
|
|
NM_001113378.2(FANCI):c.2421G>A (p.Met807Ile)
|
rs1282555629
|
0.00001
|
|
NM_001113378.2(FANCI):c.243G>T (p.Leu81Phe)
|
rs765418977
|
0.00001
|
|
NM_001113378.2(FANCI):c.2481A>T (p.Glu827Asp)
|
rs879531765
|
0.00001
|
|
NM_001113378.2(FANCI):c.2544G>C (p.Gln848His)
|
rs777269384
|
0.00001
|
|
NM_001113378.2(FANCI):c.2572C>G (p.His858Asp)
|
rs1361710673
|
0.00001
|
|
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu)
|
rs199758631
|
0.00001
|
|
NM_001113378.2(FANCI):c.2602G>C (p.Glu868Gln)
|
rs1384613419
|
0.00001
|
|
NM_001113378.2(FANCI):c.2614C>G (p.Gln872Glu)
|
rs1368909419
|
0.00001
|
|
NM_001113378.2(FANCI):c.2617A>G (p.Asn873Asp)
|
rs764167093
|
0.00001
|
|
NM_001113378.2(FANCI):c.2623T>C (p.Cys875Arg)
|
rs1309949902
|
0.00001
|
|
NM_001113378.2(FANCI):c.2636+3A>G
|
rs2054202681
|
0.00001
|
|
NM_001113378.2(FANCI):c.2636+4A>G
|
rs1211300732
|
0.00001
|
|
NM_001113378.2(FANCI):c.2636G>A (p.Arg879Gln)
|
rs1488657979
|
0.00001
|
|
NM_001113378.2(FANCI):c.2649G>C (p.Trp883Cys)
|
rs776067081
|
0.00001
|
|
NM_001113378.2(FANCI):c.2684C>T (p.Ser895Leu)
|
rs762647324
|
0.00001
|
|
NM_001113378.2(FANCI):c.2687G>C (p.Gly896Ala)
|
rs751233975
|
0.00001
|
|
NM_001113378.2(FANCI):c.2753C>T (p.Ala918Val)
|
rs748546731
|
0.00001
|
|
NM_001113378.2(FANCI):c.2774C>T (p.Pro925Leu)
|
rs773438545
|
0.00001
|
|
NM_001113378.2(FANCI):c.2813A>G (p.Asp938Gly)
|
rs1060501898
|
0.00001
|
|
NM_001113378.2(FANCI):c.2820_2852del (p.Glu940_Val951delinsAsp)
|
rs1184165155
|
0.00001
|
|
NM_001113378.2(FANCI):c.2845G>A (p.Val949Ile)
|
rs767462150
|
0.00001
|
|
NM_001113378.2(FANCI):c.2879G>A (p.Arg960Gln)
|
rs151267266
|
0.00001
|
|
NM_001113378.2(FANCI):c.2879_2884dup (p.Gln961_Phe962insTrpGln)
|
rs776851666
|
0.00001
|
|
NM_001113378.2(FANCI):c.290C>T (p.Ala97Val)
|
rs1555442676
|
0.00001
|
|
NM_001113378.2(FANCI):c.2918A>G (p.Gln973Arg)
|
rs780663944
|
0.00001
|
|
NM_001113378.2(FANCI):c.292C>T (p.His98Tyr)
|
rs886051507
|
0.00001
|
|
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr)
|
rs1194951081
|
0.00001
|
|
NM_001113378.2(FANCI):c.3044A>G (p.Lys1015Arg)
|
rs150387641
|
0.00001
|
|
NM_001113378.2(FANCI):c.3133C>G (p.Leu1045Val)
|
rs1343059856
|
0.00001
|
|
NM_001113378.2(FANCI):c.3139C>T (p.Arg1047Cys)
|
rs1429500240
|
0.00001
|
|
NM_001113378.2(FANCI):c.3206C>G (p.Thr1069Arg)
|
rs763822728
|
0.00001
|
|
NM_001113378.2(FANCI):c.3247A>G (p.Thr1083Ala)
|
rs886051513
|
0.00001
|
|
NM_001113378.2(FANCI):c.329A>G (p.Asn110Ser)
|
rs368987143
|
0.00001
|
|
NM_001113378.2(FANCI):c.3327A>T (p.Gln1109His)
|
rs1388053700
|
0.00001
|
|
NM_001113378.2(FANCI):c.3377C>G (p.Pro1126Arg)
|
rs78234788
|
0.00001
|
|
NM_001113378.2(FANCI):c.3379A>G (p.Asn1127Asp)
|
rs878854179
|
0.00001
|
|
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val)
|
rs377630829
|
0.00001
|
|
NM_001113378.2(FANCI):c.3428C>T (p.Thr1143Ile)
|
rs772071601
|
0.00001
|
|
NM_001113378.2(FANCI):c.3435C>G (p.Phe1145Leu)
|
rs1344945720
|
0.00001
|
|
NM_001113378.2(FANCI):c.3439G>A (p.Glu1147Lys)
|
rs947003968
|
0.00001
|
|
NM_001113378.2(FANCI):c.3457C>G (p.Leu1153Val)
|
rs368451326
|
0.00001
|
|
NM_001113378.2(FANCI):c.3505A>G (p.Met1169Val)
|
rs757606290
|
0.00001
|
|
NM_001113378.2(FANCI):c.3505A>T (p.Met1169Leu)
|
rs757606290
|
0.00001
|
|
NM_001113378.2(FANCI):c.3515C>T (p.Thr1172Ile)
|
rs552222011
|
0.00001
|
|
NM_001113378.2(FANCI):c.3521C>G (p.Thr1174Arg)
|
rs757106031
|
0.00001
|
|
NM_001113378.2(FANCI):c.3562G>A (p.Gly1188Arg)
|
rs772739034
|
0.00001
|
|
NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val)
|
rs149763090
|
0.00001
|
|
NM_001113378.2(FANCI):c.3619C>G (p.Pro1207Ala)
|
rs759758760
|
0.00001
|
|
NM_001113378.2(FANCI):c.362T>C (p.Leu121Pro)
|
rs373184027
|
0.00001
|
|
NM_001113378.2(FANCI):c.3665G>A (p.Ser1222Asn)
|
rs746232111
|
0.00001
|
|
NM_001113378.2(FANCI):c.3671A>C (p.Asn1224Thr)
|
rs780218001
|
0.00001
|
|
NM_001113378.2(FANCI):c.3674A>G (p.Tyr1225Cys)
|
rs1351957141
|
0.00001
|
|
NM_001113378.2(FANCI):c.3709G>C (p.Ala1237Pro)
|
rs751025656
|
0.00001
|
|
NM_001113378.2(FANCI):c.3730C>A (p.Leu1244Ile)
|
rs1321885310
|
0.00001
|
|
NM_001113378.2(FANCI):c.3809A>G (p.Lys1270Arg)
|
rs749287934
|
0.00001
|
|
NM_001113378.2(FANCI):c.3816+4A>G
|
rs575207637
|
0.00001
|
|
NM_001113378.2(FANCI):c.3898G>A (p.Glu1300Lys)
|
rs780404413
|
0.00001
|
|
NM_001113378.2(FANCI):c.3900G>C (p.Glu1300Asp)
|
rs749756525
|
0.00001
|
|
NM_001113378.2(FANCI):c.3918T>G (p.Asn1306Lys)
|
rs561190476
|
0.00001
|
|
NM_001113378.2(FANCI):c.3924+3C>T
|
rs766430678
|
0.00001
|
|
NM_001113378.2(FANCI):c.3924G>C (p.Glu1308Asp)
|
rs760646851
|
0.00001
|
|
NM_001113378.2(FANCI):c.3925G>A (p.Gly1309Ser)
|
rs1357711884
|
0.00001
|
|
NM_001113378.2(FANCI):c.3931G>T (p.Ala1311Ser)
|
rs754573704
|
0.00001
|
|
NM_001113378.2(FANCI):c.394A>G (p.Ile132Val)
|
rs749540937
|
0.00001
|
|
NM_001113378.2(FANCI):c.3977G>T (p.Arg1326Met)
|
rs916916820
|
0.00001
|
|
NM_001113378.2(FANCI):c.400C>G (p.Leu134Val)
|
rs768553208
|
0.00001
|
|
NM_001113378.2(FANCI):c.416C>T (p.Thr139Met)
|
rs1161378135
|
0.00001
|
|
NM_001113378.2(FANCI):c.418A>G (p.Lys140Glu)
|
rs1410323660
|
0.00001
|
|
NM_001113378.2(FANCI):c.475C>G (p.Gln159Glu)
|
rs765463274
|
0.00001
|
|
NM_001113378.2(FANCI):c.497C>G (p.Ser166Cys)
|
rs745789593
|
0.00001
|
|
NM_001113378.2(FANCI):c.504-3C>T
|
rs1457153041
|
0.00001
|
|
NM_001113378.2(FANCI):c.538A>T (p.Met180Leu)
|
rs1233794193
|
0.00001
|
|
NM_001113378.2(FANCI):c.546-6C>T
|
rs754929965
|
0.00001
|
|
NM_001113378.2(FANCI):c.571G>A (p.Val191Met)
|
rs1296106146
|
0.00001
|
|
NM_001113378.2(FANCI):c.614T>G (p.Met205Arg)
|
rs750520404
|
0.00001
|
|
NM_001113378.2(FANCI):c.625G>C (p.Glu209Gln)
|
rs752707646
|
0.00001
|
|
NM_001113378.2(FANCI):c.716C>T (p.Ala239Val)
|
rs749779839
|
0.00001
|
|
NM_001113378.2(FANCI):c.794G>A (p.Arg265His)
|
rs375652309
|
0.00001
|
|
NM_001113378.2(FANCI):c.811A>G (p.Ile271Val)
|
rs778263817
|
0.00001
|
|
NM_001113378.2(FANCI):c.905A>G (p.Asn302Ser)
|
rs575416245
|
0.00001
|
|
NM_001113378.2(FANCI):c.918T>G (p.Ser306Arg)
|
rs745623288
|
0.00001
|
|
NM_001113378.2(FANCI):c.925A>G (p.Ser309Gly)
|
rs1184166680
|
0.00001
|
|
NM_001113378.2(FANCI):c.92A>G (p.Asn31Ser)
|
rs745341673
|
0.00001
|
|
NM_001113378.2(FANCI):c.955A>G (p.Ile319Val)
|
rs1451676691
|
0.00001
|
|
NM_001113378.2(FANCI):c.975+3A>G
|
rs773615217
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1228G>A
|
rs1206285832
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*883C>T
|
rs370080063
|
0.00001
|
|
NM_001271938.2(MEGF8):c.1819C>T (p.Arg607Cys)
|
rs747026334
|
0.00001
|
|
NM_001271938.2(MEGF8):c.1942C>T (p.Arg648Cys)
|
rs761382753
|
0.00001
|
|
NM_001271938.2(MEGF8):c.2390G>A (p.Arg797Gln)
|
rs368683081
|
0.00001
|
|
NM_001271938.2(MEGF8):c.2477G>A (p.Arg826Gln)
|
rs775071124
|
0.00001
|
|
NM_001271938.2(MEGF8):c.27G>C (p.Met9Ile)
|
rs1029623509
|
0.00001
|
|
NM_001271938.2(MEGF8):c.284G>A (p.Arg95Gln)
|
rs758585947
|
0.00001
|
|
NM_001271938.2(MEGF8):c.3004C>T (p.Arg1002Trp)
|
rs1374279391
|
0.00001
|
|
NM_001271938.2(MEGF8):c.334G>A (p.Glu112Lys)
|
rs763111888
|
0.00001
|
|
NM_001271938.2(MEGF8):c.3472C>A (p.Arg1158Ser)
|
rs977777127
|
0.00001
|
|
NM_001271938.2(MEGF8):c.3520C>T (p.Arg1174Trp)
|
rs892173452
|
0.00001
|
|
NM_001271938.2(MEGF8):c.3712G>A (p.Glu1238Lys)
|
rs377750684
|
0.00001
|
|
NM_001271938.2(MEGF8):c.4322G>A (p.Gly1441Asp)
|
rs1229026252
|
0.00001
|
|
NM_001271938.2(MEGF8):c.4517G>A (p.Arg1506His)
|
rs749669318
|
0.00001
|
|
NM_001271938.2(MEGF8):c.4640G>A (p.Arg1547Gln)
|
rs372798483
|
0.00001
|
|
NM_001271938.2(MEGF8):c.4732C>T (p.Arg1578Cys)
|
rs774288940
|
0.00001
|
|
NM_001271938.2(MEGF8):c.527C>G (p.Ala176Gly)
|
rs764246520
|
0.00001
|
|
NM_001271938.2(MEGF8):c.5422G>A (p.Glu1808Lys)
|
rs771890594
|
0.00001
|
|
NM_001271938.2(MEGF8):c.5434G>A (p.Asp1812Asn)
|
rs747286989
|
0.00001
|
|
NM_001271938.2(MEGF8):c.5765C>T (p.Pro1922Leu)
|
rs766493787
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6064A>G (p.Thr2022Ala)
|
rs779853780
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6310G>T (p.Ala2104Ser)
|
rs772768716
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6739C>T (p.Arg2247Cys)
|
rs1438199181
|
0.00001
|
|
NM_001271938.2(MEGF8):c.754A>G (p.Asn252Asp)
|
rs769584545
|
0.00001
|
|
NM_001271938.2(MEGF8):c.7592C>T (p.Ala2531Val)
|
rs773102301
|
0.00001
|
|
NM_001271938.2(MEGF8):c.7670G>A (p.Gly2557Glu)
|
rs749183655
|
0.00001
|
|
NM_001271938.2(MEGF8):c.772G>A (p.Val258Ile)
|
rs375853163
|
0.00001
|
|
NM_001271938.2(MEGF8):c.8097G>A (p.Lys2699=)
|
rs1461151357
|
0.00001
|
|
NM_001271938.2(MEGF8):c.8449G>A (p.Gly2817Ser)
|
rs779537526
|
0.00001
|
|
NM_001271938.2(MEGF8):c.8486C>T (p.Ala2829Val)
|
rs975858414
|
0.00001
|
|
NM_001271938.2(MEGF8):c.865G>A (p.Gly289Ser)
|
rs753588973
|
0.00001
|
|
NM_001271938.2(MEGF8):c.889G>A (p.Glu297Lys)
|
rs1298003744
|
0.00001
|
|
NM_001271938.2(MEGF8):c.899A>G (p.Asp300Gly)
|
rs535520607
|
0.00001
|
|
NM_001278689.2(EOGT):c.1153-3C>T
|
rs1465028816
|
0.00001
|
|
NM_001278689.2(EOGT):c.308G>T (p.Gly103Val)
|
rs778771949
|
0.00001
|
|
NM_001278689.2(EOGT):c.730G>T (p.Val244Phe)
|
rs1386656563
|
0.00001
|
|
NM_001346754.2(PIGW):c.1027C>G (p.Leu343Val)
|
rs761421862
|
0.00001
|
|
NM_001346754.2(PIGW):c.1066G>A (p.Val356Ile)
|
rs757289253
|
0.00001
|
|
NM_001346754.2(PIGW):c.1082T>A (p.Val361Glu)
|
rs551293655
|
0.00001
|
|
NM_001346754.2(PIGW):c.1096C>T (p.Arg366Ter)
|
rs747591955
|
0.00001
|
|
NM_001346754.2(PIGW):c.1123A>G (p.Ile375Val)
|
rs1267632826
|
0.00001
|
|
NM_001346754.2(PIGW):c.1136C>A (p.Ala379Asp)
|
rs1183657483
|
0.00001
|
|
NM_001346754.2(PIGW):c.1177A>G (p.Ile393Val)
|
rs546733529
|
0.00001
|
|
NM_001346754.2(PIGW):c.1210G>A (p.Gly404Arg)
|
rs200125663
|
0.00001
|
|
NM_001346754.2(PIGW):c.1282G>A (p.Val428Ile)
|
rs1198359147
|
0.00001
|
|
NM_001346754.2(PIGW):c.1306C>T (p.Pro436Ser)
|
rs752621297
|
0.00001
|
|
NM_001346754.2(PIGW):c.1376C>T (p.Thr459Ile)
|
rs749727512
|
0.00001
|
|
NM_001346754.2(PIGW):c.1396G>A (p.Val466Ile)
|
rs2074174413
|
0.00001
|
|
NM_001346754.2(PIGW):c.1448A>G (p.Tyr483Cys)
|
rs757082131
|
0.00001
|
|
NM_001346754.2(PIGW):c.1492G>A (p.Asp498Asn)
|
rs1427870747
|
0.00001
|
|
NM_001346754.2(PIGW):c.1507T>C (p.Phe503Leu)
|
rs1403836098
|
0.00001
|
|
NM_001346754.2(PIGW):c.155C>T (p.Thr52Ile)
|
rs1276450545
|
0.00001
|
|
NM_001346754.2(PIGW):c.295C>T (p.Arg99Ter)
|
rs745493713
|
0.00001
|
|
NM_001346754.2(PIGW):c.307T>C (p.Cys103Arg)
|
rs762575873
|
0.00001
|
|
NM_001346754.2(PIGW):c.313G>A (p.Ala105Thr)
|
rs752927440
|
0.00001
|
|
NM_001346754.2(PIGW):c.320T>G (p.Leu107Arg)
|
rs148520565
|
0.00001
|
|
NM_001346754.2(PIGW):c.397C>T (p.Arg133Cys)
|
rs1292555631
|
0.00001
|
|
NM_001346754.2(PIGW):c.424A>G (p.Ile142Val)
|
rs1156430576
|
0.00001
|
|
NM_001346754.2(PIGW):c.512dup (p.Gly172fs)
|
rs1255315606
|
0.00001
|
|
NM_001346754.2(PIGW):c.560G>A (p.Arg187Lys)
|
rs544953074
|
0.00001
|
|
NM_001346754.2(PIGW):c.599C>T (p.Thr200Ile)
|
rs753730055
|
0.00001
|
|
NM_001346754.2(PIGW):c.637G>A (p.Gly213Arg)
|
rs145283085
|
0.00001
|
|
NM_001346754.2(PIGW):c.656T>C (p.Ile219Thr)
|
rs1165869015
|
0.00001
|
|
NM_001346754.2(PIGW):c.727A>G (p.Ile243Val)
|
rs752393681
|
0.00001
|
|
NM_001346754.2(PIGW):c.799G>A (p.Gly267Ser)
|
rs765071059
|
0.00001
|
|
NM_001346754.2(PIGW):c.809T>C (p.Val270Ala)
|
rs1305809089
|
0.00001
|
|
NM_001346754.2(PIGW):c.824C>G (p.Ala275Gly)
|
rs560786982
|
0.00001
|
|
NM_001346754.2(PIGW):c.910G>A (p.Glu304Lys)
|
rs763678894
|
0.00001
|
|
NM_001346754.2(PIGW):c.951G>T (p.Met317Ile)
|
rs756600566
|
0.00001
|
|
NM_001346754.2(PIGW):c.978G>T (p.Met326Ile)
|
rs1367171449
|
0.00001
|
|
NM_001374353.1(GLI2):c.1253A>G (p.Tyr418Cys)
|
rs759585885
|
0.00001
|
|
NM_001374353.1(GLI2):c.1486G>T (p.Ala496Ser)
|
rs774591307
|
0.00001
|
|
NM_001374353.1(GLI2):c.1942A>G (p.Ser648Gly)
|
rs561810561
|
0.00001
|
|
NM_001374353.1(GLI2):c.244G>A (p.Gly82Ser)
|
rs531807595
|
0.00001
|
|
NM_001374353.1(GLI2):c.257C>T (p.Pro86Leu)
|
rs757479194
|
0.00001
|
|
NM_001374353.1(GLI2):c.2669G>A (p.Gly890Asp)
|
rs1479419735
|
0.00001
|
|
NM_001374353.1(GLI2):c.2690G>A (p.Arg897Gln)
|
rs886054813
|
0.00001
|
|
NM_001374353.1(GLI2):c.2783C>T (p.Thr928Ile)
|
rs1004685361
|
0.00001
|
|
NM_001374353.1(GLI2):c.2957A>C (p.Asp986Ala)
|
rs930268229
|
0.00001
|
|
NM_001374353.1(GLI2):c.3518G>T (p.Gly1173Val)
|
rs774621554
|
0.00001
|
|
NM_001374353.1(GLI2):c.3647A>G (p.Gln1216Arg)
|
rs377503122
|
0.00001
|
|
NM_001374353.1(GLI2):c.3842G>A (p.Arg1281His)
|
rs370407550
|
0.00001
|
|
NM_001374353.1(GLI2):c.4093C>T (p.Arg1365Cys)
|
rs761959609
|
0.00001
|
|
NM_001374353.1(GLI2):c.4122G>C (p.Gln1374His)
|
rs1489027653
|
0.00001
|
|
NM_001374353.1(GLI2):c.841C>A (p.Leu281Ile)
|
rs1558923649
|
0.00001
|
|
NM_001429.4(EP300):c.169A>G (p.Asn57Asp)
|
rs1186074560
|
0.00001
|
|
NM_001429.4(EP300):c.2078T>C (p.Met693Thr)
|
rs199636064
|
0.00001
|
|
NM_001429.4(EP300):c.302G>A (p.Gly101Asp)
|
rs879722959
|
0.00001
|
|
NM_001429.4(EP300):c.307G>A (p.Val103Ile)
|
rs1193355188
|
0.00001
|
|
NM_001429.4(EP300):c.359G>A (p.Ser120Asn)
|
rs1303897359
|
0.00001
|
|
NM_001429.4(EP300):c.3615C>G (p.Phe1205Leu)
|
rs587778255
|
0.00001
|
|
NM_001429.4(EP300):c.4339A>G (p.Ile1447Val)
|
rs1448116681
|
0.00001
|
|
NM_001429.4(EP300):c.5869C>T (p.Pro1957Ser)
|
rs1301322622
|
0.00001
|
|
NM_001429.4(EP300):c.5966T>G (p.Met1989Arg)
|
rs760421892
|
0.00001
|
|
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser)
|
rs779543207
|
0.00001
|
|
NM_001999.4(FBN2):c.1120C>T (p.Arg374Cys)
|
rs759013590
|
0.00001
|
|
NM_001999.4(FBN2):c.1240C>T (p.Arg414Cys)
|
rs1382726763
|
0.00001
|
|
NM_001999.4(FBN2):c.1286G>T (p.Ser429Ile)
|
rs749969520
|
0.00001
|
|
NM_001999.4(FBN2):c.1480A>T (p.Thr494Ser)
|
rs200850552
|
0.00001
|
|
NM_001999.4(FBN2):c.1502A>C (p.His501Pro)
|
rs773361111
|
0.00001
|
|
NM_001999.4(FBN2):c.1571G>T (p.Gly524Val)
|
rs753734866
|
0.00001
|
|
NM_001999.4(FBN2):c.1616G>A (p.Cys539Tyr)
|
rs1456682417
|
0.00001
|
|
NM_001999.4(FBN2):c.1724-7T>G
|
rs1490528227
|
0.00001
|
|
NM_001999.4(FBN2):c.1765G>A (p.Gly589Ser)
|
rs1057523294
|
0.00001
|
|
NM_001999.4(FBN2):c.1813G>A (p.Gly605Ser)
|
rs863223553
|
0.00001
|
|
NM_001999.4(FBN2):c.1903G>A (p.Glu635Lys)
|
rs138963610
|
0.00001
|
|
NM_001999.4(FBN2):c.2083C>T (p.Arg695Cys)
|
rs747447916
|
0.00001
|
|
NM_001999.4(FBN2):c.2294A>G (p.Asp765Gly)
|
rs1485036763
|
0.00001
|
|
NM_001999.4(FBN2):c.230G>T (p.Arg77Leu)
|
rs889066564
|
0.00001
|
|
NM_001999.4(FBN2):c.2489C>T (p.Pro830Leu)
|
rs547769591
|
0.00001
|
|
NM_001999.4(FBN2):c.2522A>G (p.Tyr841Cys)
|
rs762606715
|
0.00001
|
|
NM_001999.4(FBN2):c.2565A>C (p.Glu855Asp)
|
rs1751527556
|
0.00001
|
|
NM_001999.4(FBN2):c.257C>G (p.Pro86Arg)
|
rs749819006
|
0.00001
|
|
NM_001999.4(FBN2):c.2675A>G (p.Asp892Gly)
|
rs863223558
|
0.00001
|
|
NM_001999.4(FBN2):c.2716C>T (p.Arg906Cys)
|
rs763094104
|
0.00001
|
|
NM_001999.4(FBN2):c.2731A>G (p.Ile911Val)
|
rs368766120
|
0.00001
|
|
NM_001999.4(FBN2):c.2863+3G>A
|
rs762144935
|
0.00001
|
|
NM_001999.4(FBN2):c.29A>G (p.Gln10Arg)
|
rs547410742
|
0.00001
|
|
NM_001999.4(FBN2):c.3401C>T (p.Thr1134Ile)
|
rs863223602
|
0.00001
|
|
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys)
|
rs200060005
|
0.00001
|
|
NM_001999.4(FBN2):c.3514G>A (p.Gly1172Ser)
|
rs138303817
|
0.00001
|
|
NM_001999.4(FBN2):c.3559C>A (p.Leu1187Met)
|
rs375710546
|
0.00001
|
|
NM_001999.4(FBN2):c.3563G>A (p.Gly1188Glu)
|
rs748888503
|
0.00001
|
|
NM_001999.4(FBN2):c.3565C>T (p.His1189Tyr)
|
rs779690646
|
0.00001
|
|
NM_001999.4(FBN2):c.3577C>T (p.Pro1193Ser)
|
rs749905043
|
0.00001
|
|
NM_001999.4(FBN2):c.3581C>T (p.Ser1194Phe)
|
rs914081385
|
0.00001
|
|
NM_001999.4(FBN2):c.3583C>T (p.Arg1195Cys)
|
rs757232992
|
0.00001
|
|
NM_001999.4(FBN2):c.3660T>G (p.Ile1220Met)
|
rs558632824
|
0.00001
|
|
NM_001999.4(FBN2):c.3751G>A (p.Gly1251Arg)
|
rs1018550681
|
0.00001
|
|
NM_001999.4(FBN2):c.3925C>T (p.Leu1309Phe)
|
rs763595235
|
0.00001
|
|
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys)
|
rs762514246
|
0.00001
|
|
NM_001999.4(FBN2):c.3971T>C (p.Ile1324Thr)
|
rs150872093
|
0.00001
|
|
NM_001999.4(FBN2):c.4011G>A (p.Met1337Ile)
|
rs1231103337
|
0.00001
|
|
NM_001999.4(FBN2):c.4258A>G (p.Ser1420Gly)
|
rs1407868144
|
0.00001
|
|
NM_001999.4(FBN2):c.4352A>G (p.Asp1451Gly)
|
rs766483687
|
0.00001
|
|
NM_001999.4(FBN2):c.4402G>T (p.Val1468Phe)
|
rs199668238
|
0.00001
|
|
NM_001999.4(FBN2):c.4585A>G (p.Asn1529Asp)
|
rs1085307489
|
0.00001
|
|
NM_001999.4(FBN2):c.460A>G (p.Met154Val)
|
rs878854475
|
0.00001
|
|
NM_001999.4(FBN2):c.4708G>T (p.Gly1570Cys)
|
rs1554121027
|
0.00001
|
|
NM_001999.4(FBN2):c.472A>T (p.Thr158Ser)
|
rs886059904
|
0.00001
|
|
NM_001999.4(FBN2):c.4751G>T (p.Gly1584Val)
|
rs770269667
|
0.00001
|
|
NM_001999.4(FBN2):c.4808G>A (p.Arg1603His)
|
rs751661259
|
0.00001
|
|
NM_001999.4(FBN2):c.4864C>A (p.Pro1622Thr)
|
rs750116860
|
0.00001
|
|
NM_001999.4(FBN2):c.5015G>A (p.Ser1672Asn)
|
rs1018411631
|
0.00001
|
|
NM_001999.4(FBN2):c.5074+5G>A
|
rs374651068
|
0.00001
|
|
NM_001999.4(FBN2):c.5120C>T (p.Thr1707Ile)
|
rs572030603
|
0.00001
|
|
NM_001999.4(FBN2):c.5174A>T (p.Gln1725Leu)
|
rs1402545685
|
0.00001
|
|
NM_001999.4(FBN2):c.5201-3T>C
|
rs1057521162
|
0.00001
|
|
NM_001999.4(FBN2):c.5224C>T (p.Arg1742Ter)
|
rs1178371653
|
0.00001
|
|
NM_001999.4(FBN2):c.52T>A (p.Cys18Ser)
|
rs1033004512
|
0.00001
|
|
NM_001999.4(FBN2):c.5426T>C (p.Ile1809Thr)
|
rs766034866
|
0.00001
|
|
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys)
|
rs767932789
|
0.00001
|
|
NM_001999.4(FBN2):c.5701A>G (p.Asn1901Asp)
|
rs1010422106
|
0.00001
|
|
NM_001999.4(FBN2):c.5710A>C (p.Ser1904Arg)
|
rs1581202795
|
0.00001
|
|
NM_001999.4(FBN2):c.574G>A (p.Gly192Arg)
|
rs376398925
|
0.00001
|
|
NM_001999.4(FBN2):c.5801A>G (p.Asp1934Gly)
|
rs1554119542
|
0.00001
|
|
NM_001999.4(FBN2):c.5834A>G (p.Asn1945Ser)
|
rs863223578
|
0.00001
|
|
NM_001999.4(FBN2):c.5900A>G (p.His1967Arg)
|
rs1314671452
|
0.00001
|
|
NM_001999.4(FBN2):c.5921T>C (p.Ile1974Thr)
|
rs1060503501
|
0.00001
|
|
NM_001999.4(FBN2):c.5974A>G (p.Asn1992Asp)
|
rs1437992406
|
0.00001
|
|
NM_001999.4(FBN2):c.6002G>A (p.Cys2001Tyr)
|
rs878854476
|
0.00001
|
|
NM_001999.4(FBN2):c.6074G>A (p.Gly2025Asp)
|
rs547583705
|
0.00001
|
|
NM_001999.4(FBN2):c.6140A>G (p.Tyr2047Cys)
|
rs368453513
|
0.00001
|
|
NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu)
|
rs863223611
|
0.00001
|
|
NM_001999.4(FBN2):c.617A>T (p.Gln206Leu)
|
rs1207752455
|
0.00001
|
|
NM_001999.4(FBN2):c.6298C>T (p.Arg2100Cys)
|
rs1425263303
|
0.00001
|
|
NM_001999.4(FBN2):c.6445G>A (p.Val2149Ile)
|
rs1394667470
|
0.00001
|
|
NM_001999.4(FBN2):c.6512-3T>C
|
rs764271022
|
0.00001
|
|
NM_001999.4(FBN2):c.6609C>A (p.Asn2203Lys)
|
rs761101580
|
0.00001
|
|
NM_001999.4(FBN2):c.671T>C (p.Met224Thr)
|
rs886038798
|
0.00001
|
|
NM_001999.4(FBN2):c.6805A>G (p.Met2269Val)
|
rs943225631
|
0.00001
|
|
NM_001999.4(FBN2):c.681G>T (p.Gly227=)
|
rs772923075
|
0.00001
|
|
NM_001999.4(FBN2):c.6843T>G (p.Ile2281Met)
|
rs770011418
|
0.00001
|
|
NM_001999.4(FBN2):c.6919T>A (p.Ser2307Thr)
|
rs1208950525
|
0.00001
|
|
NM_001999.4(FBN2):c.6949G>A (p.Gly2317Ser)
|
rs863223613
|
0.00001
|
|
NM_001999.4(FBN2):c.6959T>C (p.Met2320Thr)
|
rs749681942
|
0.00001
|
|
NM_001999.4(FBN2):c.7256G>T (p.Gly2419Val)
|
rs762058983
|
0.00001
|
|
NM_001999.4(FBN2):c.7345+3A>G
|
rs776419198
|
0.00001
|
|
NM_001999.4(FBN2):c.7471+5C>T
|
rs369559870
|
0.00001
|
|
NM_001999.4(FBN2):c.7553C>T (p.Pro2518Leu)
|
rs776761421
|
0.00001
|
|
NM_001999.4(FBN2):c.7632G>T (p.Gln2544His)
|
rs1451291857
|
0.00001
|
|
NM_001999.4(FBN2):c.7654G>C (p.Gly2552Arg)
|
rs375790581
|
0.00001
|
|
NM_001999.4(FBN2):c.791G>A (p.Gly264Asp)
|
rs746046058
|
0.00001
|
|
NM_001999.4(FBN2):c.7960+5G>A
|
rs863223590
|
0.00001
|
|
NM_001999.4(FBN2):c.7987G>A (p.Ala2663Thr)
|
rs1245151549
|
0.00001
|
|
NM_001999.4(FBN2):c.798C>G (p.Ile266Met)
|
rs1754660877
|
0.00001
|
|
NM_001999.4(FBN2):c.8423A>G (p.Asn2808Ser)
|
rs772227931
|
0.00001
|
|
NM_001999.4(FBN2):c.8426T>C (p.Leu2809Pro)
|
rs863223591
|
0.00001
|
|
NM_001999.4(FBN2):c.8458G>A (p.Glu2820Lys)
|
rs752384882
|
0.00001
|
|
NM_001999.4(FBN2):c.8681A>C (p.Tyr2894Ser)
|
rs779659640
|
0.00001
|
|
NM_001999.4(FBN2):c.893C>G (p.Ser298Cys)
|
rs577855501
|
0.00001
|
|
NM_001999.4(FBN2):c.953-3T>A
|
rs1020574940
|
0.00001
|
|
NM_002334.4(LRP4):c.1001T>G (p.Val334Gly)
|
rs767110056
|
0.00001
|
|
NM_002334.4(LRP4):c.1063G>A (p.Glu355Lys)
|
rs1446754894
|
0.00001
|
|
NM_002334.4(LRP4):c.1154G>A (p.Arg385Gln)
|
rs772931812
|
0.00001
|
|
NM_002334.4(LRP4):c.1175C>T (p.Thr392Met)
|
rs776484311
|
0.00001
|
|
NM_002334.4(LRP4):c.1255T>G (p.Trp419Gly)
|
rs1032020389
|
0.00001
|
|
NM_002334.4(LRP4):c.1438G>C (p.Glu480Gln)
|
rs201502598
|
0.00001
|
|
NM_002334.4(LRP4):c.1510G>A (p.Glu504Lys)
|
rs760105990
|
0.00001
|
|
NM_002334.4(LRP4):c.1538C>G (p.Pro513Arg)
|
rs748357296
|
0.00001
|
|
NM_002334.4(LRP4):c.1633C>T (p.Arg545Trp)
|
rs371763360
|
0.00001
|
|
NM_002334.4(LRP4):c.1696G>A (p.Gly566Ser)
|
rs1941453950
|
0.00001
|
|
NM_002334.4(LRP4):c.1780G>A (p.Asp594Asn)
|
rs779387728
|
0.00001
|
|
NM_002334.4(LRP4):c.1829G>A (p.Arg610His)
|
rs17848218
|
0.00001
|
|
NM_002334.4(LRP4):c.1831C>T (p.Arg611Cys)
|
rs771793515
|
0.00001
|
|
NM_002334.4(LRP4):c.2009C>T (p.Thr670Met)
|
rs752512047
|
0.00001
|
|
NM_002334.4(LRP4):c.2129C>T (p.Thr710Met)
|
rs777222715
|
0.00001
|
|
NM_002334.4(LRP4):c.2216-3C>T
|
rs555994387
|
0.00001
|
|
NM_002334.4(LRP4):c.2243G>A (p.Arg748Gln)
|
rs545112106
|
0.00001
|
|
NM_002334.4(LRP4):c.2317C>T (p.Arg773Cys)
|
rs376444422
|
0.00001
|
|
NM_002334.4(LRP4):c.2374G>A (p.Val792Ile)
|
rs190872977
|
0.00001
|
|
NM_002334.4(LRP4):c.2570A>C (p.Asn857Thr)
|
rs754708237
|
0.00001
|
|
NM_002334.4(LRP4):c.2593G>A (p.Val865Met)
|
rs765202931
|
0.00001
|
|
NM_002334.4(LRP4):c.2609G>A (p.Gly870Asp)
|
rs776260999
|
0.00001
|
|
NM_002334.4(LRP4):c.2746C>T (p.Arg916Cys)
|
rs147259655
|
0.00001
|
|
NM_002334.4(LRP4):c.2917C>T (p.Arg973Trp)
|
rs368011278
|
0.00001
|
|
NM_002334.4(LRP4):c.2935C>T (p.Arg979Trp)
|
rs757565682
|
0.00001
|
|
NM_002334.4(LRP4):c.3067C>T (p.Pro1023Ser)
|
rs201695857
|
0.00001
|
|
NM_002334.4(LRP4):c.317C>T (p.Pro106Leu)
|
rs556889686
|
0.00001
|
|
NM_002334.4(LRP4):c.322C>T (p.Arg108Trp)
|
rs775191643
|
0.00001
|
|
NM_002334.4(LRP4):c.3331G>A (p.Asp1111Asn)
|
rs770071302
|
0.00001
|
|
NM_002334.4(LRP4):c.3473G>A (p.Arg1158Gln)
|
rs150306458
|
0.00001
|
|
NM_002334.4(LRP4):c.3537G>T (p.Gly1179=)
|
rs767837337
|
0.00001
|
|
NM_002334.4(LRP4):c.3555C>G (p.Asp1185Glu)
|
rs1189743163
|
0.00001
|
|
NM_002334.4(LRP4):c.3580C>T (p.Arg1194Trp)
|
rs746573834
|
0.00001
|
|
NM_002334.4(LRP4):c.3586G>A (p.Gly1196Arg)
|
rs745459741
|
0.00001
|
|
NM_002334.4(LRP4):c.3607G>A (p.Ala1203Thr)
|
rs752888601
|
0.00001
|
|
NM_002334.4(LRP4):c.3699+5G>C
|
rs745544336
|
0.00001
|
|
NM_002334.4(LRP4):c.3731A>G (p.Asn1244Ser)
|
rs376299085
|
0.00001
|
|
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His)
|
rs746136135
|
0.00001
|
|
NM_002334.4(LRP4):c.3839A>G (p.Lys1280Arg)
|
rs371205300
|
0.00001
|
|
NM_002334.4(LRP4):c.3865G>A (p.Val1289Met)
|
rs756641717
|
0.00001
|
|
NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser)
|
rs771126504
|
0.00001
|
|
NM_002334.4(LRP4):c.4043G>A (p.Cys1348Tyr)
|
rs1940969409
|
0.00001
|
|
NM_002334.4(LRP4):c.4109A>G (p.Asp1370Gly)
|
rs1565782159
|
0.00001
|
|
NM_002334.4(LRP4):c.4134T>A (p.His1378Gln)
|
rs763442262
|
0.00001
|
|
NM_002334.4(LRP4):c.4154A>G (p.Asn1385Ser)
|
rs768733310
|
0.00001
|
|
NM_002334.4(LRP4):c.4222G>A (p.Val1408Ile)
|
rs777975583
|
0.00001
|
|
NM_002334.4(LRP4):c.4250G>A (p.Ser1417Asn)
|
rs758719937
|
0.00001
|
|
NM_002334.4(LRP4):c.4270G>A (p.Gly1424Arg)
|
rs1026948492
|
0.00001
|
|
NM_002334.4(LRP4):c.429T>C (p.Cys143=)
|
rs1486932718
|
0.00001
|
|
NM_002334.4(LRP4):c.4369C>G (p.Leu1457Val)
|
rs571418643
|
0.00001
|
|
NM_002334.4(LRP4):c.4379C>T (p.Ser1460Phe)
|
rs61738061
|
0.00001
|
|
NM_002334.4(LRP4):c.4385G>A (p.Arg1462His)
|
rs777932389
|
0.00001
|
|
NM_002334.4(LRP4):c.4432G>C (p.Val1478Leu)
|
rs764880010
|
0.00001
|
|
NM_002334.4(LRP4):c.446C>T (p.Ser149Phe)
|
rs1239578585
|
0.00001
|
|
NM_002334.4(LRP4):c.4493G>A (p.Arg1498Gln)
|
rs764079526
|
0.00001
|
|
NM_002334.4(LRP4):c.4525C>T (p.Leu1509Phe)
|
rs1940914910
|
0.00001
|
|
NM_002334.4(LRP4):c.4544G>C (p.Gly1515Ala)
|
rs758635404
|
0.00001
|
|
NM_002334.4(LRP4):c.4579C>T (p.Arg1527Cys)
|
rs756059712
|
0.00001
|
|
NM_002334.4(LRP4):c.461G>A (p.Arg154His)
|
rs748199837
|
0.00001
|
|
NM_002334.4(LRP4):c.4634A>G (p.Asn1545Ser)
|
rs142352845
|
0.00001
|
|
NM_002334.4(LRP4):c.4741C>T (p.Arg1581Cys)
|
rs771144609
|
0.00001
|
|
NM_002334.4(LRP4):c.4763G>A (p.Arg1588Gln)
|
rs746746234
|
0.00001
|
|
NM_002334.4(LRP4):c.4829G>A (p.Arg1610Gln)
|
rs756543033
|
0.00001
|
|
NM_002334.4(LRP4):c.4943G>C (p.Cys1648Ser)
|
rs769497270
|
0.00001
|
|
NM_002334.4(LRP4):c.4981G>A (p.Ala1661Thr)
|
rs768284053
|
0.00001
|
|
NM_002334.4(LRP4):c.5071G>A (p.Glu1691Lys)
|
rs528376810
|
0.00001
|
|
NM_002334.4(LRP4):c.5101G>A (p.Asp1701Asn)
|
rs1241649761
|
0.00001
|
|
NM_002334.4(LRP4):c.5234T>C (p.Met1745Thr)
|
rs776705313
|
0.00001
|
|
NM_002334.4(LRP4):c.5362A>C (p.Asn1788His)
|
rs1208850907
|
0.00001
|
|
NM_002334.4(LRP4):c.541A>G (p.Asn181Asp)
|
rs1208569811
|
0.00001
|
|
NM_002334.4(LRP4):c.5428G>A (p.Val1810Ile)
|
rs779299308
|
0.00001
|
|
NM_002334.4(LRP4):c.547C>T (p.Pro183Ser)
|
rs765567296
|
0.00001
|
|
NM_002334.4(LRP4):c.5585C>T (p.Thr1862Met)
|
rs368840169
|
0.00001
|
|
NM_002334.4(LRP4):c.5618G>A (p.Cys1873Tyr)
|
rs1312872252
|
0.00001
|
|
NM_002334.4(LRP4):c.563C>T (p.Ala188Val)
|
rs772245536
|
0.00001
|
|
NM_002334.4(LRP4):c.65G>T (p.Ser22Ile)
|
rs777229906
|
0.00001
|
|
NM_002334.4(LRP4):c.688C>G (p.Pro230Ala)
|
rs773770584
|
0.00001
|
|
NM_002334.4(LRP4):c.746G>A (p.Arg249His)
|
rs780066978
|
0.00001
|
|
NM_002334.4(LRP4):c.806T>C (p.Met269Thr)
|
rs776417067
|
0.00001
|
|
NM_002334.4(LRP4):c.812C>T (p.Thr271Met)
|
rs768904639
|
0.00001
|
|
NM_002334.4(LRP4):c.851G>A (p.Arg284His)
|
rs369307795
|
0.00001
|
|
NM_002334.4(LRP4):c.963T>A (p.Asn321Lys)
|
rs1257559745
|
0.00001
|
|
NM_002334.4(LRP4):c.974T>C (p.Ile325Thr)
|
rs753709386
|
0.00001
|
|
NM_002968.3(SALL1):c.1892C>T (p.Thr631Ile)
|
rs768794489
|
0.00001
|
|
NM_002968.3(SALL1):c.2590G>A (p.Ala864Thr)
|
rs199626036
|
0.00001
|
|
NM_002968.3(SALL1):c.2957T>C (p.Leu986Ser)
|
rs764408117
|
0.00001
|
|
NM_002968.3(SALL1):c.3088A>G (p.Ile1030Val)
|
rs1238657472
|
0.00001
|
|
NM_002968.3(SALL1):c.3409A>G (p.Asn1137Asp)
|
rs1352323090
|
0.00001
|
|
NM_003289.4(TPM2):c.230A>G (p.Lys77Arg)
|
rs1486146333
|
0.00001
|
|
NM_003289.4(TPM2):c.248C>T (p.Ala83Val)
|
rs770922057
|
0.00001
|
|
NM_003289.4(TPM2):c.436A>G (p.Met146Val)
|
rs764320619
|
0.00001
|
|
NM_003289.4(TPM2):c.679C>G (p.Leu227Val)
|
rs779397499
|
0.00001
|
|
NM_003334.4(UBA1):c.1014G>C (p.Gln338His)
|
rs1157237217
|
0.00001
|
|
NM_003334.4(UBA1):c.1147A>T (p.Ile383Phe)
|
rs1341394275
|
0.00001
|
|
NM_003334.4(UBA1):c.1189A>G (p.Ile397Val)
|
rs1556788826
|
0.00001
|
|
NM_003334.4(UBA1):c.1629C>G (p.Ile543Met)
|
rs1556790800
|
0.00001
|
|
NM_003334.4(UBA1):c.1710C>T (p.Gly570=)
|
rs1556790843
|
0.00001
|
|
NM_003334.4(UBA1):c.1924G>C (p.Glu642Gln)
|
rs1318594436
|
0.00001
|
|
NM_003334.4(UBA1):c.2270A>G (p.Asn757Ser)
|
rs1556793160
|
0.00001
|
|
NM_003334.4(UBA1):c.2329G>A (p.Gly777Arg)
|
rs868922840
|
0.00001
|
|
NM_003334.4(UBA1):c.242G>A (p.Arg81Gln)
|
rs782097752
|
0.00001
|
|
NM_003334.4(UBA1):c.2474G>A (p.Arg825His)
|
rs781852793
|
0.00001
|
|
NM_003334.4(UBA1):c.2504G>A (p.Ser835Asn)
|
rs782586380
|
0.00001
|
|
NM_003334.4(UBA1):c.2567A>G (p.Asn856Ser)
|
rs374003677
|
0.00001
|
|
NM_003334.4(UBA1):c.2575A>G (p.Met859Val)
|
rs782649232
|
0.00001
|
|
NM_003334.4(UBA1):c.2584A>G (p.Ile862Val)
|
rs1351999233
|
0.00001
|
|
NM_003334.4(UBA1):c.2626C>G (p.Pro876Ala)
|
rs782749176
|
0.00001
|
|
NM_003334.4(UBA1):c.2754G>C (p.Gln918His)
|
rs782576505
|
0.00001
|
|
NM_003334.4(UBA1):c.2824G>A (p.Ala942Thr)
|
rs1556794067
|
0.00001
|
|
NM_003334.4(UBA1):c.2869C>T (p.Arg957Cys)
|
rs781997101
|
0.00001
|
|
NM_003334.4(UBA1):c.2893C>G (p.Pro965Ala)
|
rs1556794528
|
0.00001
|
|
NM_003334.4(UBA1):c.2933A>G (p.Tyr978Cys)
|
rs782527493
|
0.00001
|
|
NM_003334.4(UBA1):c.3127G>A (p.Glu1043Lys)
|
rs782810802
|
0.00001
|
|
NM_003334.4(UBA1):c.34G>T (p.Val12Leu)
|
rs982155788
|
0.00001
|
|
NM_003334.4(UBA1):c.521G>A (p.Arg174Gln)
|
rs1556787651
|
0.00001
|
|
NM_003334.4(UBA1):c.598T>G (p.Cys200Gly)
|
rs200692291
|
0.00001
|
|
NM_003334.4(UBA1):c.734G>A (p.Gly245Glu)
|
rs1409013948
|
0.00001
|
|
NM_003334.4(UBA1):c.97G>A (p.Val33Met)
|
rs1449173671
|
0.00001
|
|
NM_004380.3(CREBBP):c.105C>G (p.Asp35Glu)
|
rs372495787
|
0.00001
|
|
NM_004380.3(CREBBP):c.2695C>G (p.Pro899Ala)
|
rs1186080322
|
0.00001
|
|
NM_004380.3(CREBBP):c.3385G>A (p.Val1129Ile)
|
rs774047746
|
0.00001
|
|
NM_004380.3(CREBBP):c.4890+6C>T
|
rs1567265838
|
0.00001
|
|
NM_004380.3(CREBBP):c.5777G>A (p.Arg1926Gln)
|
rs1370704436
|
0.00001
|
|
NM_004380.3(CREBBP):c.5795C>T (p.Thr1932Met)
|
rs867074201
|
0.00001
|
|
NM_004380.3(CREBBP):c.5796G>A (p.Thr1932=)
|
rs755609198
|
0.00001
|
|
NM_004380.3(CREBBP):c.586A>G (p.Ser196Gly)
|
rs794727274
|
0.00001
|
|
NM_004380.3(CREBBP):c.6126G>T (p.Met2042Ile)
|
rs1052723403
|
0.00001
|
|
NM_004380.3(CREBBP):c.6746G>A (p.Arg2249His)
|
rs794727551
|
0.00001
|
|
NM_004380.3(CREBBP):c.6881G>A (p.Arg2294Gln)
|
rs1064793091
|
0.00001
|
|
NM_004380.3(CREBBP):c.6956A>T (p.His2319Leu)
|
rs587778215
|
0.00001
|
|
NM_004380.3(CREBBP):c.7178G>C (p.Ser2393Thr)
|
rs766962344
|
0.00001
|
|
NM_004629.2(FANCG):c.1077G>A (p.Arg359=)
|
rs901079231
|
0.00001
|
|
NM_004629.2(FANCG):c.1162C>G (p.Pro388Ala)
|
rs1356114266
|
0.00001
|
|
NM_004629.2(FANCG):c.1189T>C (p.Phe397Leu)
|
rs1060501868
|
0.00001
|
|
NM_004629.2(FANCG):c.1222G>A (p.Gly408Ser)
|
rs371171892
|
0.00001
|
|
NM_004629.2(FANCG):c.1252G>A (p.Glu418Lys)
|
rs886063896
|
0.00001
|
|
NM_004629.2(FANCG):c.1268G>A (p.Arg423His)
|
rs757276792
|
0.00001
|
|
NM_004629.2(FANCG):c.1298G>C (p.Arg433Pro)
|
rs748738986
|
0.00001
|
|
NM_004629.2(FANCG):c.1492A>C (p.Asn498His)
|
rs748364103
|
0.00001
|
|
NM_004629.2(FANCG):c.1519G>A (p.Ala507Thr)
|
rs373151602
|
0.00001
|
|
NM_004629.2(FANCG):c.1567G>C (p.Glu523Gln)
|
rs761993636
|
0.00001
|
|
NM_004629.2(FANCG):c.158T>G (p.Leu53Arg)
|
rs756388446
|
0.00001
|
|
NM_004629.2(FANCG):c.1595A>G (p.Lys532Arg)
|
rs1587139402
|
0.00001
|
|
NM_004629.2(FANCG):c.1615C>G (p.Leu539Val)
|
rs1486862292
|
0.00001
|
|
NM_004629.2(FANCG):c.1626G>C (p.Gln542His)
|
rs1060501867
|
0.00001
|
|
NM_004629.2(FANCG):c.1687C>T (p.Arg563Trp)
|
rs754258080
|
0.00001
|
|
NM_004629.2(FANCG):c.1688G>A (p.Arg563Gln)
|
rs1309056736
|
0.00001
|
|
NM_004629.2(FANCG):c.176G>A (p.Gly59Glu)
|
rs538555981
|
0.00001
|
|
NM_004629.2(FANCG):c.1814G>A (p.Arg605His)
|
rs751710424
|
0.00001
|
|
NM_004629.2(FANCG):c.338G>A (p.Arg113Lys)
|
rs778894219
|
0.00001
|
|
NM_004629.2(FANCG):c.463C>T (p.Arg155Cys)
|
rs200926249
|
0.00001
|
|
NM_004629.2(FANCG):c.500A>G (p.Asn167Ser)
|
rs749946550
|
0.00001
|
|
NM_004629.2(FANCG):c.634G>A (p.Ala212Thr)
|
rs775291829
|
0.00001
|
|
NM_004629.2(FANCG):c.646+5G>A
|
rs1453133047
|
0.00001
|
|
NM_004629.2(FANCG):c.682G>A (p.Ala228Thr)
|
rs765095688
|
0.00001
|
|
NM_004629.2(FANCG):c.73C>G (p.Arg25Gly)
|
rs752839554
|
0.00001
|
|
NM_004629.2(FANCG):c.8G>T (p.Arg3Leu)
|
rs770674344
|
0.00001
|
|
NM_004629.2(FANCG):c.905G>T (p.Ser302Ile)
|
rs61757386
|
0.00001
|
|
NM_004629.2(FANCG):c.924+3A>G
|
rs1338383222
|
0.00001
|
|
NM_004629.2(FANCG):c.933_938dup (p.Val312_Pro313dup)
|
rs1199832786
|
0.00001
|
|
NM_005055.5(RAPSN):c.1010G>A (p.Arg337His)
|
rs768445220
|
0.00001
|
|
NM_005055.5(RAPSN):c.1028G>A (p.Arg343Gln)
|
rs757902272
|
0.00001
|
|
NM_005055.5(RAPSN):c.1036C>T (p.Arg346Trp)
|
rs529117281
|
0.00001
|
|
NM_005055.5(RAPSN):c.1076C>T (p.Thr359Met)
|
rs768394140
|
0.00001
|
|
NM_005055.5(RAPSN):c.1081C>G (p.Leu361Val)
|
rs1231669536
|
0.00001
|
|
NM_005055.5(RAPSN):c.1102G>A (p.Glu368Lys)
|
rs756519962
|
0.00001
|
|
NM_005055.5(RAPSN):c.1113C>T (p.Gly371=)
|
rs150503333
|
0.00001
|
|
NM_005055.5(RAPSN):c.1181A>G (p.Asn394Ser)
|
rs370123138
|
0.00001
|
|
NM_005055.5(RAPSN):c.1207C>T (p.Arg403Cys)
|
rs1165174416
|
0.00001
|
|
NM_005055.5(RAPSN):c.1216T>A (p.Ser406Thr)
|
rs1486159580
|
0.00001
|
|
NM_005055.5(RAPSN):c.161C>T (p.Ser54Leu)
|
rs750772292
|
0.00001
|
|
NM_005055.5(RAPSN):c.220C>T (p.Arg74Trp)
|
rs778157857
|
0.00001
|
|
NM_005055.5(RAPSN):c.221G>A (p.Arg74Gln)
|
rs568433059
|
0.00001
|
|
NM_005055.5(RAPSN):c.22C>A (p.Gln8Lys)
|
rs11556408
|
0.00001
|
|
NM_005055.5(RAPSN):c.238G>A (p.Asp80Asn)
|
rs781724566
|
0.00001
|
|
NM_005055.5(RAPSN):c.310T>G (p.Ser104Ala)
|
rs770016019
|
0.00001
|
|
NM_005055.5(RAPSN):c.317G>A (p.Cys106Tyr)
|
rs1341207988
|
0.00001
|
|
NM_005055.5(RAPSN):c.328C>T (p.Leu110Phe)
|
rs1164228546
|
0.00001
|
|
NM_005055.5(RAPSN):c.33G>C (p.Glu11Asp)
|
rs1047615316
|
0.00001
|
|
NM_005055.5(RAPSN):c.40C>T (p.Leu14Phe)
|
rs1256816164
|
0.00001
|
|
NM_005055.5(RAPSN):c.43C>A (p.Gln15Lys)
|
rs1326936118
|
0.00001
|
|
NM_005055.5(RAPSN):c.451C>T (p.Arg151Cys)
|
rs148600999
|
0.00001
|
|
NM_005055.5(RAPSN):c.479T>C (p.Met160Thr)
|
rs780985479
|
0.00001
|
|
NM_005055.5(RAPSN):c.538G>A (p.Glu180Lys)
|
rs1452482859
|
0.00001
|
|
NM_005055.5(RAPSN):c.59A>T (p.Asn20Ile)
|
rs747627949
|
0.00001
|
|
NM_005055.5(RAPSN):c.613C>T (p.Arg205Trp)
|
rs756738642
|
0.00001
|
|
NM_005055.5(RAPSN):c.649C>T (p.Arg217Cys)
|
rs766845970
|
0.00001
|
|
NM_005055.5(RAPSN):c.662G>A (p.Arg221His)
|
rs1377574572
|
0.00001
|
|
NM_005055.5(RAPSN):c.690+14G>T
|
rs752360126
|
0.00001
|
|
NM_005055.5(RAPSN):c.725G>C (p.Arg242Pro)
|
rs780963721
|
0.00001
|
|
NM_005055.5(RAPSN):c.760G>A (p.Asp254Asn)
|
rs750888238
|
0.00001
|
|
NM_005055.5(RAPSN):c.769C>T (p.Arg257Trp)
|
rs753956536
|
0.00001
|
|
NM_005055.5(RAPSN):c.781G>A (p.Asp261Asn)
|
rs762865029
|
0.00001
|
|
NM_005055.5(RAPSN):c.82G>T (p.Val28Leu)
|
rs199984356
|
0.00001
|
|
NM_005055.5(RAPSN):c.912+6G>A
|
rs781362707
|
0.00001
|
|
NM_005236.3(ERCC4):c.1004T>C (p.Met335Thr)
|
rs1458037304
|
0.00001
|
|
NM_005236.3(ERCC4):c.1090A>G (p.Lys364Glu)
|
rs765535723
|
0.00001
|
|
NM_005236.3(ERCC4):c.1110A>T (p.Lys370Asn)
|
rs774643449
|
0.00001
|
|
NM_005236.3(ERCC4):c.1207G>C (p.Gly403Arg)
|
rs751348446
|
0.00001
|
|
NM_005236.3(ERCC4):c.1210C>T (p.Pro404Ser)
|
rs767454772
|
0.00001
|
|
NM_005236.3(ERCC4):c.1212A>G (p.Pro404=)
|
rs752193295
|
0.00001
|
|
NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg)
|
rs762147159
|
0.00001
|
|
NM_005236.3(ERCC4):c.122C>G (p.Ala41Gly)
|
rs751095195
|
0.00001
|
|
NM_005236.3(ERCC4):c.124G>A (p.Asp42Asn)
|
rs767138486
|
0.00001
|
|
NM_005236.3(ERCC4):c.125A>G (p.Asp42Gly)
|
rs752379459
|
0.00001
|
|
NM_005236.3(ERCC4):c.1265A>T (p.Asp422Val)
|
rs767408205
|
0.00001
|
|
NM_005236.3(ERCC4):c.1301G>A (p.Arg434Lys)
|
rs1473430382
|
0.00001
|
|
NM_005236.3(ERCC4):c.1304T>G (p.Leu435Arg)
|
rs1001540758
|
0.00001
|
|
NM_005236.3(ERCC4):c.1334A>C (p.Lys445Thr)
|
rs368559924
|
0.00001
|
|
NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser)
|
rs1298488189
|
0.00001
|
|
NM_005236.3(ERCC4):c.1364A>G (p.Lys455Arg)
|
rs759312308
|
0.00001
|
|
NM_005236.3(ERCC4):c.137A>G (p.Tyr46Cys)
|
rs757860762
|
0.00001
|
|
NM_005236.3(ERCC4):c.1544G>A (p.Arg515His)
|
rs766111215
|
0.00001
|
|
NM_005236.3(ERCC4):c.1575C>G (p.Cys525Trp)
|
rs779170299
|
0.00001
|
|
NM_005236.3(ERCC4):c.1655C>T (p.Thr552Ile)
|
rs549865610
|
0.00001
|
|
NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu)
|
rs751782722
|
0.00001
|
|
NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg)
|
rs749814308
|
0.00001
|
|
NM_005236.3(ERCC4):c.1975G>A (p.Gly659Ser)
|
rs753506602
|
0.00001
|
|
NM_005236.3(ERCC4):c.1976G>A (p.Gly659Asp)
|
rs756811179
|
0.00001
|
|
NM_005236.3(ERCC4):c.1979C>T (p.Thr660Ile)
|
rs779366136
|
0.00001
|
|
NM_005236.3(ERCC4):c.2017+3G>A
|
rs1596634140
|
0.00001
|
|
NM_005236.3(ERCC4):c.2101C>T (p.Arg701Cys)
|
rs772728961
|
0.00001
|
|
NM_005236.3(ERCC4):c.2176C>T (p.Arg726Cys)
|
rs777184889
|
0.00001
|
|
NM_005236.3(ERCC4):c.2200G>A (p.Gly734Ser)
|
rs753924297
|
0.00001
|
|
NM_005236.3(ERCC4):c.2260C>T (p.Arg754Cys)
|
rs535728795
|
0.00001
|
|
NM_005236.3(ERCC4):c.232A>T (p.Ile78Leu)
|
rs765712858
|
0.00001
|
|
NM_005236.3(ERCC4):c.2452C>G (p.Gln818Glu)
|
rs774635437
|
0.00001
|
|
NM_005236.3(ERCC4):c.2500G>T (p.Asp834Tyr)
|
rs138583819
|
0.00001
|
|
NM_005236.3(ERCC4):c.2534A>G (p.Asn845Ser)
|
rs377562755
|
0.00001
|
|
NM_005236.3(ERCC4):c.2588G>C (p.Cys863Ser)
|
rs749822053
|
0.00001
|
|
NM_005236.3(ERCC4):c.2590C>T (p.Arg864Cys)
|
rs587778284
|
0.00001
|
|
NM_005236.3(ERCC4):c.259C>T (p.Arg87Cys)
|
rs191886782
|
0.00001
|
|
NM_005236.3(ERCC4):c.2693A>G (p.Tyr898Cys)
|
rs2032564211
|
0.00001
|
|
NM_005236.3(ERCC4):c.2735G>A (p.Gly912Glu)
|
rs2020956
|
0.00001
|
|
NM_005236.3(ERCC4):c.326C>T (p.Ala109Val)
|
rs767586458
|
0.00001
|
|
NM_005236.3(ERCC4):c.32C>T (p.Ala11Val)
|
rs753596005
|
0.00001
|
|
NM_005236.3(ERCC4):c.376G>C (p.Asp126His)
|
rs1192940719
|
0.00001
|
|
NM_005236.3(ERCC4):c.41C>T (p.Pro14Leu)
|
rs754622238
|
0.00001
|
|
NM_005236.3(ERCC4):c.448C>T (p.Arg150Cys)
|
rs145402255
|
0.00001
|
|
NM_005236.3(ERCC4):c.541G>A (p.Val181Met)
|
rs750673145
|
0.00001
|
|
NM_005236.3(ERCC4):c.61C>G (p.Gln21Glu)
|
rs748499820
|
0.00001
|
|
NM_005236.3(ERCC4):c.737C>T (p.Ser246Leu)
|
rs370864937
|
0.00001
|
|
NM_005236.3(ERCC4):c.782C>T (p.Pro261Leu)
|
rs765111229
|
0.00001
|
|
NM_005236.3(ERCC4):c.794C>T (p.Thr265Ile)
|
rs1265753536
|
0.00001
|
|
NM_005236.3(ERCC4):c.798C>G (p.Ile266Met)
|
rs746106147
|
0.00001
|
|
NM_005236.3(ERCC4):c.830T>C (p.Leu277Pro)
|
rs2032156137
|
0.00001
|
|
NM_005236.3(ERCC4):c.947C>T (p.Thr316Met)
|
rs1340754747
|
0.00001
|
|
NM_005445.4(SMC3):c.2498A>G (p.Asn833Ser)
|
rs777828072
|
0.00001
|
|
NM_005592.4(MUSK):c.1063G>A (p.Ala355Thr)
|
rs758777519
|
0.00001
|
|
NM_005592.4(MUSK):c.1102C>T (p.Pro368Ser)
|
rs768323977
|
0.00001
|
|
NM_005592.4(MUSK):c.1119G>T (p.Leu373Phe)
|
rs747717789
|
0.00001
|
|
NM_005592.4(MUSK):c.1159G>T (p.Val387Leu)
|
rs770907001
|
0.00001
|
|
NM_005592.4(MUSK):c.1273G>A (p.Glu425Lys)
|
rs745722798
|
0.00001
|
|
NM_005592.4(MUSK):c.1279C>G (p.His427Asp)
|
rs751266636
|
0.00001
|
|
NM_005592.4(MUSK):c.1291G>A (p.Val431Met)
|
rs372013406
|
0.00001
|
|
NM_005592.4(MUSK):c.133G>C (p.Ala45Pro)
|
rs763800237
|
0.00001
|
|
NM_005592.4(MUSK):c.1360G>A (p.Asp454Asn)
|
rs202239254
|
0.00001
|
|
NM_005592.4(MUSK):c.1465T>C (p.Ser489Pro)
|
rs1161905783
|
0.00001
|
|
NM_005592.4(MUSK):c.1541C>T (p.Thr514Ile)
|
rs1467052958
|
0.00001
|
|
NM_005592.4(MUSK):c.1556G>A (p.Arg519Gln)
|
rs773818596
|
0.00001
|
|
NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg)
|
rs202126269
|
0.00001
|
|
NM_005592.4(MUSK):c.1754C>T (p.Ala585Val)
|
rs953823198
|
0.00001
|
|
NM_005592.4(MUSK):c.1813A>G (p.Met605Val)
|
rs758777089
|
0.00001
|
|
NM_005592.4(MUSK):c.1895A>T (p.Glu632Val)
|
rs769807910
|
0.00001
|
|
NM_005592.4(MUSK):c.1915G>A (p.Val639Met)
|
rs766810675
|
0.00001
|
|
NM_005592.4(MUSK):c.1925T>C (p.Leu642Ser)
|
rs751851038
|
0.00001
|
|
NM_005592.4(MUSK):c.1969T>C (p.Tyr657His)
|
rs760452360
|
0.00001
|
|
NM_005592.4(MUSK):c.2002C>T (p.Arg668Cys)
|
rs754730206
|
0.00001
|
|
NM_005592.4(MUSK):c.206+5G>A
|
rs767539226
|
0.00001
|
|
NM_005592.4(MUSK):c.2065G>T (p.Val689Phe)
|
rs1464125081
|
0.00001
|
|
NM_005592.4(MUSK):c.2140G>C (p.Ala714Pro)
|
rs1377981904
|
0.00001
|
|
NM_005592.4(MUSK):c.2156G>A (p.Arg719His)
|
rs545173798
|
0.00001
|
|
NM_005592.4(MUSK):c.220C>T (p.Arg74Trp)
|
rs1370203787
|
0.00001
|
|
NM_005592.4(MUSK):c.221G>A (p.Arg74Gln)
|
rs758118087
|
0.00001
|
|
NM_005592.4(MUSK):c.2222T>C (p.Ile741Thr)
|
rs752514384
|
0.00001
|
|
NM_005592.4(MUSK):c.2332C>T (p.Arg778Cys)
|
rs750833487
|
0.00001
|
|
NM_005592.4(MUSK):c.2333G>A (p.Arg778His)
|
rs751712655
|
0.00001
|
|
NM_005592.4(MUSK):c.233G>A (p.Arg78Gln)
|
rs776815006
|
0.00001
|
|
NM_005592.4(MUSK):c.2346G>T (p.Glu782Asp)
|
rs34614566
|
0.00001
|
|
NM_005592.4(MUSK):c.2408A>G (p.Tyr803Cys)
|
rs376837791
|
0.00001
|
|
NM_005592.4(MUSK):c.242G>C (p.Gly81Ala)
|
rs1644805907
|
0.00001
|
|
NM_005592.4(MUSK):c.2430G>C (p.Glu810Asp)
|
rs1455145377
|
0.00001
|
|
NM_005592.4(MUSK):c.2507G>A (p.Arg836His)
|
rs371689428
|
0.00001
|
|
NM_005592.4(MUSK):c.2579G>T (p.Cys860Phe)
|
rs748071334
|
0.00001
|
|
NM_005592.4(MUSK):c.2581G>A (p.Glu861Lys)
|
rs1588054854
|
0.00001
|
|
NM_005592.4(MUSK):c.2600T>C (p.Val867Ala)
|
rs779710805
|
0.00001
|
|
NM_005592.4(MUSK):c.2608T>C (p.Ter870Gln)
|
rs201134491
|
0.00001
|
|
NM_005592.4(MUSK):c.296G>T (p.Cys99Phe)
|
rs760781844
|
0.00001
|
|
NM_005592.4(MUSK):c.315G>A (p.Val105=)
|
rs751133130
|
0.00001
|
|
NM_005592.4(MUSK):c.359-2dup
|
rs1185775471
|
0.00001
|
|
NM_005592.4(MUSK):c.430A>G (p.Thr144Ala)
|
rs1210600769
|
0.00001
|
|
NM_005592.4(MUSK):c.43C>A (p.Leu15Met)
|
rs746254848
|
0.00001
|
|
NM_005592.4(MUSK):c.441T>A (p.Asn147Lys)
|
rs1476034971
|
0.00001
|
|
NM_005592.4(MUSK):c.467A>T (p.Lys156Met)
|
rs1048310820
|
0.00001
|
|
NM_005592.4(MUSK):c.486+6T>G
|
rs763532251
|
0.00001
|
|
NM_005592.4(MUSK):c.538G>A (p.Val180Ile)
|
rs1468498564
|
0.00001
|
|
NM_005592.4(MUSK):c.557G>C (p.Gly186Ala)
|
rs373304727
|
0.00001
|
|
NM_005592.4(MUSK):c.58G>A (p.Gly20Arg)
|
rs758427621
|
0.00001
|
|
NM_005592.4(MUSK):c.593C>T (p.Thr198Ile)
|
rs561525761
|
0.00001
|
|
NM_005592.4(MUSK):c.635C>T (p.Ala212Val)
|
rs756953369
|
0.00001
|
|
NM_005592.4(MUSK):c.697T>C (p.Cys233Arg)
|
rs376911820
|
0.00001
|
|
NM_005592.4(MUSK):c.701C>T (p.Thr234Ile)
|
rs1170201682
|
0.00001
|
|
NM_005592.4(MUSK):c.745G>A (p.Gly249Arg)
|
rs1372004765
|
0.00001
|
|
NM_005592.4(MUSK):c.788A>C (p.Asp263Ala)
|
rs1187474550
|
0.00001
|
|
NM_005592.4(MUSK):c.791G>A (p.Arg264Gln)
|
rs193019632
|
0.00001
|
|
NM_005592.4(MUSK):c.872A>G (p.Lys291Arg)
|
rs752641780
|
0.00001
|
|
NM_005592.4(MUSK):c.875T>G (p.Phe292Cys)
|
rs1416891382
|
0.00001
|
|
NM_006147.4(IRF6):c.921C>T (p.Ser307=)
|
rs750815592
|
0.00001
|
|
NM_006265.3(RAD21):c.1189G>A (p.Val397Ile)
|
rs371948457
|
0.00001
|
|
NM_006265.3(RAD21):c.1320C>T (p.Ile440=)
|
rs776397992
|
0.00001
|
|
NM_006265.3(RAD21):c.1446A>T (p.Gln482His)
|
rs756283022
|
0.00001
|
|
NM_006265.3(RAD21):c.1724G>C (p.Gly575Ala)
|
rs762827934
|
0.00001
|
|
NM_006265.3(RAD21):c.687A>C (p.Leu229Phe)
|
rs774987531
|
0.00001
|
|
NM_006265.3(RAD21):c.745T>C (p.Ser249Pro)
|
rs138762840
|
0.00001
|
|
NM_006306.4(SMC1A):c.1254+5G>A
|
rs1569358589
|
0.00001
|
|
NM_006306.4(SMC1A):c.1403G>A (p.Arg468Gln)
|
rs1556890153
|
0.00001
|
|
NM_006306.4(SMC1A):c.2738C>T (p.Thr913Ile)
|
rs1569355048
|
0.00001
|
|
NM_006306.4(SMC1A):c.2862+4A>C
|
rs1445281439
|
0.00001
|
|
NM_006306.4(SMC1A):c.2867G>T (p.Ser956Ile)
|
rs1556887779
|
0.00001
|
|
NM_006306.4(SMC1A):c.2908T>A (p.Ser970Thr)
|
rs1239033094
|
0.00001
|
|
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile)
|
rs782084021
|
0.00001
|
|
NM_006306.4(SMC1A):c.3611A>T (p.Tyr1204Phe)
|
rs781998306
|
0.00001
|
|
NM_006306.4(SMC1A):c.386A>G (p.Lys129Arg)
|
rs1223252947
|
0.00001
|
|
NM_006306.4(SMC1A):c.392G>A (p.Arg131His)
|
rs781903928
|
0.00001
|
|
NM_006306.4(SMC1A):c.494C>T (p.Ala165Val)
|
rs1556890833
|
0.00001
|
|
NM_006306.4(SMC1A):c.716A>G (p.Asn239Ser)
|
rs782172948
|
0.00001
|
|
NM_006306.4(SMC1A):c.763C>T (p.Arg255Cys)
|
rs782209409
|
0.00001
|
|
NM_006306.4(SMC1A):c.823C>T (p.Arg275Trp)
|
rs781812690
|
0.00001
|
|
NM_012243.3(SLC35A3):c.107G>A (p.Arg36His)
|
rs747574982
|
0.00001
|
|
NM_012243.3(SLC35A3):c.187+5G>A
|
rs1327580386
|
0.00001
|
|
NM_012243.3(SLC35A3):c.329C>G (p.Ala110Gly)
|
rs1157464372
|
0.00001
|
|
NM_012243.3(SLC35A3):c.405A>C (p.Lys135Asn)
|
rs754559092
|
0.00001
|
|
NM_012243.3(SLC35A3):c.40G>A (p.Val14Ile)
|
rs1392040093
|
0.00001
|
|
NM_012243.3(SLC35A3):c.44T>C (p.Phe15Ser)
|
rs951750313
|
0.00001
|
|
NM_012243.3(SLC35A3):c.452T>A (p.Val151Asp)
|
rs1415934934
|
0.00001
|
|
NM_013352.4(DSE):c.1192G>A (p.Gly398Ser)
|
rs775032838
|
0.00001
|
|
NM_013352.4(DSE):c.1225G>A (p.Glu409Lys)
|
rs767730463
|
0.00001
|
|
NM_013352.4(DSE):c.1273C>T (p.Arg425Cys)
|
rs746187739
|
0.00001
|
|
NM_013352.4(DSE):c.1609A>T (p.Ile537Phe)
|
rs1213902929
|
0.00001
|
|
NM_013352.4(DSE):c.1736C>T (p.Pro579Leu)
|
rs762084403
|
0.00001
|
|
NM_013352.4(DSE):c.17G>A (p.Arg6Gln)
|
rs758271302
|
0.00001
|
|
NM_013352.4(DSE):c.1909C>T (p.Arg637Trp)
|
rs763787753
|
0.00001
|
|
NM_013352.4(DSE):c.2054T>C (p.Val685Ala)
|
rs749911499
|
0.00001
|
|
NM_013352.4(DSE):c.2147G>A (p.Arg716His)
|
rs549153887
|
0.00001
|
|
NM_013352.4(DSE):c.2186G>A (p.Ser729Asn)
|
rs779169990
|
0.00001
|
|
NM_013352.4(DSE):c.2221A>G (p.Ile741Val)
|
rs780336360
|
0.00001
|
|
NM_013352.4(DSE):c.2326C>T (p.Arg776Cys)
|
rs752624508
|
0.00001
|
|
NM_013352.4(DSE):c.2386A>G (p.Ile796Val)
|
rs774012350
|
0.00001
|
|
NM_013352.4(DSE):c.404C>T (p.Ala135Val)
|
rs370430595
|
0.00001
|
|
NM_013352.4(DSE):c.495G>T (p.Leu165Phe)
|
rs1057524129
|
0.00001
|
|
NM_014918.5(CHSY1):c.1109G>A (p.Arg370Gln)
|
rs769801559
|
0.00001
|
|
NM_014918.5(CHSY1):c.1312C>T (p.Arg438Trp)
|
rs773396835
|
0.00001
|
|
NM_014918.5(CHSY1):c.1468G>T (p.Ala490Ser)
|
rs756263767
|
0.00001
|
|
NM_014918.5(CHSY1):c.1552C>G (p.Gln518Glu)
|
rs1274574182
|
0.00001
|
|
NM_014918.5(CHSY1):c.793G>A (p.Val265Met)
|
rs372381623
|
0.00001
|
|
NM_014918.5(CHSY1):c.965G>A (p.Arg322His)
|
rs140855609
|
0.00001
|
|
NM_014918.5(CHSY1):c.966C>T (p.Arg322=)
|
rs911382649
|
0.00001
|
|
NM_014918.5(CHSY1):c.989G>A (p.Arg330His)
|
rs749508854
|
0.00001
|
|
NM_016277.5(RAB23):c.244G>C (p.Ala82Pro)
|
rs766250966
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn)
|
rs757988142
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1636G>A (p.Gly546Arg)
|
rs764185451
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1669+5G>A
|
rs771590616
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1721C>T (p.Pro574Leu)
|
rs771263341
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1760T>A (p.Phe587Tyr)
|
rs771440130
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1778C>T (p.Pro593Leu)
|
rs886039014
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1903+6C>T
|
rs753388966
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1918A>G (p.Ile640Val)
|
rs1307313338
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2074A>G (p.Thr692Ala)
|
rs1385815860
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2128G>A (p.Asp710Asn)
|
rs950236535
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2207+5G>A
|
rs1214619547
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2510C>G (p.Pro837Arg)
|
rs777663026
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2564G>A (p.Cys855Tyr)
|
rs759862433
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2597G>C (p.Cys866Ser)
|
rs763469662
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2605G>A (p.Asp869Asn)
|
rs1420968156
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2614G>A (p.Glu872Lys)
|
rs762050048
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3040A>T (p.Thr1014Ser)
|
rs1181594680
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3095A>G (p.His1032Arg)
|
rs1397562033
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3211G>A (p.Gly1071Ser)
|
rs587778566
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3214G>A (p.Gly1072Ser)
|
rs780582836
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3244C>T (p.Arg1082Cys)
|
rs1386494518
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3442G>A (p.Glu1148Lys)
|
rs1060502239
|
0.00001
|
|
NM_017617.5(NOTCH1):c.347C>T (p.Thr116Ile)
|
rs1308100068
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3529G>A (p.Gly1177Arg)
|
rs754086177
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg)
|
rs775438678
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3644-7C>G
|
rs1243301340
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3733G>A (p.Val1245Met)
|
rs926643780
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3787C>T (p.Arg1263Cys)
|
rs1415111675
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3866A>G (p.Asn1289Ser)
|
rs1281437674
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3879C>T (p.Cys1293=)
|
rs777242726
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3901G>A (p.Gly1301Arg)
|
rs1227711223
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4010C>G (p.Pro1337Arg)
|
rs1043832212
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4024G>A (p.Gly1342Ser)
|
rs748933222
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4052C>T (p.Thr1351Ile)
|
rs1357611221
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4180G>A (p.Gly1394Ser)
|
rs1210347209
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4237C>A (p.Arg1413Ser)
|
rs1348438354
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4264G>A (p.Gly1422Arg)
|
rs1255471066
|
0.00001
|
|
NM_017617.5(NOTCH1):c.452A>G (p.Asn151Ser)
|
rs766362765
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4568G>A (p.Arg1523His)
|
rs367589813
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4588C>T (p.Pro1530Ser)
|
rs750808945
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4654G>A (p.Ala1552Thr)
|
rs1438164851
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4675C>T (p.Leu1559=)
|
rs370713185
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4865G>A (p.Arg1622His)
|
rs778271353
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu)
|
rs1243453790
|
0.00001
|
|
NM_017617.5(NOTCH1):c.499C>T (p.Pro167Ser)
|
rs1439038323
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5234T>C (p.Val1745Ala)
|
rs1843012616
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5284C>T (p.Arg1762Trp)
|
rs1356199208
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5350C>T (p.Arg1784Trp)
|
rs1843010487
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5384+6C>T
|
rs747363366
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro)
|
rs1085307869
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5629C>T (p.Arg1877Cys)
|
rs1446708596
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5804C>T (p.Ala1935Val)
|
rs374787627
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5836C>T (p.Arg1946Cys)
|
rs1440167765
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5987C>T (p.Thr1996Met)
|
rs773137647
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6025G>A (p.Gly2009Ser)
|
rs1842960316
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6067G>A (p.Ala2023Thr)
|
rs1181025067
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6082+6C>T
|
rs1842959338
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6119A>G (p.Asn2040Ser)
|
rs780257585
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6213G>A (p.Glu2071=)
|
rs761295801
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6293G>A (p.Arg2098His)
|
rs759998676
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6343G>A (p.Glu2115Lys)
|
rs777219891
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6392G>A (p.Gly2131Asp)
|
rs1842933513
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6595C>T (p.Pro2199Ser)
|
rs988164569
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6743A>C (p.Asn2248Thr)
|
rs1554826464
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6748G>T (p.Ala2250Ser)
|
rs1436539393
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6758C>T (p.Pro2253Leu)
|
rs1204397173
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6812C>T (p.Pro2271Leu)
|
rs1223321022
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6868A>G (p.Ser2290Gly)
|
rs1842924133
|
0.00001
|
|
NM_017617.5(NOTCH1):c.68G>C (p.Arg23Pro)
|
rs869025260
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser)
|
rs1325758824
|
0.00001
|
|
NM_017617.5(NOTCH1):c.712G>A (p.Asp238Asn)
|
rs550554578
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7172A>T (p.Gln2391Leu)
|
rs1169052272
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7188C>G (p.Asn2396Lys)
|
rs1842917968
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7238C>T (p.Pro2413Leu)
|
rs1842916834
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7273G>A (p.Ala2425Thr)
|
rs1364332299
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7417G>A (p.Val2473Ile)
|
rs1358523874
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7430C>T (p.Thr2477Ile)
|
rs1373474592
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7472C>A (p.Ser2491Tyr)
|
rs757165853
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp)
|
rs1365732147
|
0.00001
|
|
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met)
|
rs369721921
|
0.00001
|
|
NM_017617.5(NOTCH1):c.865+5G>A
|
rs1307085130
|
0.00001
|
|
NM_017617.5(NOTCH1):c.866-3C>T
|
rs950602055
|
0.00001
|
|
NM_018062.4(FANCL):c.1065A>G (p.Ile355Met)
|
rs147860433
|
0.00001
|
|
NM_018062.4(FANCL):c.1067T>G (p.Phe356Cys)
|
rs773869051
|
0.00001
|
|
NM_018062.4(FANCL):c.121G>T (p.Val41Leu)
|
rs763523035
|
0.00001
|
|
NM_018062.4(FANCL):c.155+4A>G
|
rs1264877990
|
0.00001
|
|
NM_018062.4(FANCL):c.173A>G (p.Gln58Arg)
|
rs1363031365
|
0.00001
|
|
NM_018062.4(FANCL):c.182C>G (p.Thr61Arg)
|
rs1315405264
|
0.00001
|
|
NM_018062.4(FANCL):c.197A>G (p.Tyr66Cys)
|
rs200306031
|
0.00001
|
|
NM_018062.4(FANCL):c.28C>G (p.Arg10Gly)
|
rs146690827
|
0.00001
|
|
NM_018062.4(FANCL):c.308C>A (p.Ala103Glu)
|
rs746623168
|
0.00001
|
|
NM_018062.4(FANCL):c.319C>T (p.Pro107Ser)
|
rs754028115
|
0.00001
|
|
NM_018062.4(FANCL):c.332A>G (p.Tyr111Cys)
|
rs757683704
|
0.00001
|
|
NM_018062.4(FANCL):c.344T>C (p.Ile115Thr)
|
rs1060501895
|
0.00001
|
|
NM_018062.4(FANCL):c.354A>G (p.Ile118Met)
|
rs1371125510
|
0.00001
|
|
NM_018062.4(FANCL):c.355G>A (p.Gly119Arg)
|
rs764393410
|
0.00001
|
|
NM_018062.4(FANCL):c.372T>A (p.Asp124Glu)
|
rs1032497636
|
0.00001
|
|
NM_018062.4(FANCL):c.386C>T (p.Ala129Val)
|
rs771495568
|
0.00001
|
|
NM_018062.4(FANCL):c.394T>C (p.Cys132Arg)
|
rs748298862
|
0.00001
|
|
NM_018062.4(FANCL):c.401G>T (p.Ser134Ile)
|
rs377429618
|
0.00001
|
|
NM_018062.4(FANCL):c.44T>C (p.Leu15Pro)
|
rs1694519859
|
0.00001
|
|
NM_018062.4(FANCL):c.472T>G (p.Tyr158Asp)
|
rs749411866
|
0.00001
|
|
NM_018062.4(FANCL):c.488C>G (p.Pro163Arg)
|
rs770063294
|
0.00001
|
|
NM_018062.4(FANCL):c.50C>G (p.Pro17Arg)
|
rs773768206
|
0.00001
|
|
NM_018062.4(FANCL):c.541-3C>T
|
rs759711454
|
0.00001
|
|
NM_018062.4(FANCL):c.554G>C (p.Ser185Thr)
|
rs560205327
|
0.00001
|
|
NM_018062.4(FANCL):c.598T>A (p.Phe200Ile)
|
rs199660431
|
0.00001
|
|
NM_018062.4(FANCL):c.611T>C (p.Met204Thr)
|
rs368900762
|
0.00001
|
|
NM_018062.4(FANCL):c.640C>T (p.Leu214Phe)
|
rs765926796
|
0.00001
|
|
NM_018062.4(FANCL):c.662G>A (p.Arg221Gln)
|
rs761742545
|
0.00001
|
|
NM_018062.4(FANCL):c.679A>G (p.Arg227Gly)
|
rs778068203
|
0.00001
|
|
NM_018062.4(FANCL):c.691+3A>G
|
rs1159902512
|
0.00001
|
|
NM_018062.4(FANCL):c.692G>A (p.Gly231Asp)
|
rs1558737546
|
0.00001
|
|
NM_018062.4(FANCL):c.742C>T (p.Leu248Phe)
|
rs1202806362
|
0.00001
|
|
NM_018062.4(FANCL):c.775+3A>T
|
rs975755966
|
0.00001
|
|
NM_018062.4(FANCL):c.860T>G (p.Val287Gly)
|
rs61757387
|
0.00001
|
|
NM_018062.4(FANCL):c.881C>T (p.Ala294Val)
|
rs756695293
|
0.00001
|
|
NM_018062.4(FANCL):c.884G>A (p.Arg295His)
|
rs375526911
|
0.00001
|
|
NM_018062.4(FANCL):c.96+3A>T
|
rs764782273
|
0.00001
|
|
NM_018486.3(HDAC8):c.835A>G (p.Met279Val)
|
rs1555993170
|
0.00001
|
|
NM_020436.5(SALL4):c.1496C>T (p.Thr499Met)
|
rs769115027
|
0.00001
|
|
NM_020436.5(SALL4):c.1880C>T (p.Ser627Leu)
|
rs746614693
|
0.00001
|
|
NM_020436.5(SALL4):c.536C>G (p.Thr179Ser)
|
rs201303046
|
0.00001
|
|
NM_020937.4(FANCM):c.1021T>C (p.Phe341Leu)
|
rs1282418362
|
0.00001
|
|
NM_020937.4(FANCM):c.1032C>A (p.Asn344Lys)
|
rs757823478
|
0.00001
|
|
NM_020937.4(FANCM):c.106G>A (p.Gly36Ser)
|
rs1416346759
|
0.00001
|
|
NM_020937.4(FANCM):c.1072G>A (p.Glu358Lys)
|
rs746643140
|
0.00001
|
|
NM_020937.4(FANCM):c.1115A>G (p.Glu372Gly)
|
rs762845761
|
0.00001
|
|
NM_020937.4(FANCM):c.1142C>T (p.Ser381Leu)
|
rs765686151
|
0.00001
|
|
NM_020937.4(FANCM):c.1178C>T (p.Thr393Ile)
|
rs1029198668
|
0.00001
|
|
NM_020937.4(FANCM):c.119C>G (p.Ala40Gly)
|
rs750184645
|
0.00001
|
|
NM_020937.4(FANCM):c.1264C>T (p.Arg422Cys)
|
rs150574630
|
0.00001
|
|
NM_020937.4(FANCM):c.1271G>A (p.Arg424His)
|
rs139726733
|
0.00001
|
|
NM_020937.4(FANCM):c.1301T>C (p.Ile434Thr)
|
rs763653491
|
0.00001
|
|
NM_020937.4(FANCM):c.1353G>T (p.Lys451Asn)
|
rs771239660
|
0.00001
|
|
NM_020937.4(FANCM):c.1393A>T (p.Asn465Tyr)
|
rs776166350
|
0.00001
|
|
NM_020937.4(FANCM):c.1394A>G (p.Asn465Ser)
|
rs747572587
|
0.00001
|
|
NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys)
|
rs543029493
|
0.00001
|
|
NM_020937.4(FANCM):c.1439T>C (p.Met480Thr)
|
rs776804525
|
0.00001
|
|
NM_020937.4(FANCM):c.1440G>C (p.Met480Ile)
|
rs893380700
|
0.00001
|
|
NM_020937.4(FANCM):c.1462A>G (p.Ser488Gly)
|
rs374988842
|
0.00001
|
|
NM_020937.4(FANCM):c.1493A>G (p.Gln498Arg)
|
rs541543025
|
0.00001
|
|
NM_020937.4(FANCM):c.1509T>G (p.Ile503Met)
|
rs764033368
|
0.00001
|
|
NM_020937.4(FANCM):c.1516A>G (p.Met506Val)
|
rs758763305
|
0.00001
|
|
NM_020937.4(FANCM):c.1566G>T (p.Gln522His)
|
rs763980494
|
0.00001
|
|
NM_020937.4(FANCM):c.1598G>A (p.Arg533His)
|
rs1183879113
|
0.00001
|
|
NM_020937.4(FANCM):c.1600G>A (p.Asp534Asn)
|
rs1392286222
|
0.00001
|
|
NM_020937.4(FANCM):c.1604G>A (p.Gly535Asp)
|
rs201076487
|
0.00001
|
|
NM_020937.4(FANCM):c.1616C>T (p.Thr539Met)
|
rs758046969
|
0.00001
|
|
NM_020937.4(FANCM):c.1654A>G (p.Ile552Val)
|
rs1416236626
|
0.00001
|
|
NM_020937.4(FANCM):c.1655T>C (p.Ile552Thr)
|
rs200240871
|
0.00001
|
|
NM_020937.4(FANCM):c.1703T>C (p.Ile568Thr)
|
rs764204806
|
0.00001
|
|
NM_020937.4(FANCM):c.1708C>T (p.Leu570Phe)
|
rs1473955115
|
0.00001
|
|
NM_020937.4(FANCM):c.1735C>T (p.Arg579Cys)
|
rs149698772
|
0.00001
|
|
NM_020937.4(FANCM):c.1753A>G (p.Ile585Val)
|
rs772284228
|
0.00001
|
|
NM_020937.4(FANCM):c.1765C>T (p.Leu589Phe)
|
rs764151493
|
0.00001
|
|
NM_020937.4(FANCM):c.1786C>T (p.Arg596Cys)
|
rs765671208
|
0.00001
|
|
NM_020937.4(FANCM):c.1805A>G (p.Gln602Arg)
|
rs1343909660
|
0.00001
|
|
NM_020937.4(FANCM):c.1846A>G (p.Arg616Gly)
|
rs763557682
|
0.00001
|
|
NM_020937.4(FANCM):c.1895G>A (p.Gly632Glu)
|
rs757274359
|
0.00001
|
|
NM_020937.4(FANCM):c.190G>T (p.Ala64Ser)
|
rs1015238529
|
0.00001
|
|
NM_020937.4(FANCM):c.1948G>A (p.Glu650Lys)
|
rs763357840
|
0.00001
|
|
NM_020937.4(FANCM):c.1949A>C (p.Glu650Ala)
|
rs771567101
|
0.00001
|
|
NM_020937.4(FANCM):c.1994A>G (p.Tyr665Cys)
|
rs148250143
|
0.00001
|
|
NM_020937.4(FANCM):c.2002+5A>G
|
rs1888042696
|
0.00001
|
|
NM_020937.4(FANCM):c.2005A>T (p.Met669Leu)
|
rs1888274673
|
0.00001
|
|
NM_020937.4(FANCM):c.201G>T (p.Gln67His)
|
rs761398438
|
0.00001
|
|
NM_020937.4(FANCM):c.2066A>G (p.Asn689Ser)
|
rs1317308859
|
0.00001
|
|
NM_020937.4(FANCM):c.2096A>G (p.Glu699Gly)
|
rs991105099
|
0.00001
|
|
NM_020937.4(FANCM):c.2177C>T (p.Thr726Ile)
|
rs1171394901
|
0.00001
|
|
NM_020937.4(FANCM):c.220G>A (p.Gly74Arg)
|
rs765227168
|
0.00001
|
|
NM_020937.4(FANCM):c.2215T>C (p.Trp739Arg)
|
rs1407263617
|
0.00001
|
|
NM_020937.4(FANCM):c.2236A>G (p.Thr746Ala)
|
rs764033302
|
0.00001
|
|
NM_020937.4(FANCM):c.2244A>G (p.Gln748=)
|
rs751605791
|
0.00001
|
|
NM_020937.4(FANCM):c.2261G>A (p.Arg754Gln)
|
rs529256568
|
0.00001
|
|
NM_020937.4(FANCM):c.2266C>T (p.Arg756Cys)
|
rs756870111
|
0.00001
|
|
NM_020937.4(FANCM):c.2275A>G (p.Ile759Val)
|
rs1431873616
|
0.00001
|
|
NM_020937.4(FANCM):c.2339A>C (p.Glu780Ala)
|
rs149856496
|
0.00001
|
|
NM_020937.4(FANCM):c.233C>A (p.Ser78Tyr)
|
rs753797551
|
0.00001
|
|
NM_020937.4(FANCM):c.235G>C (p.Ala79Pro)
|
rs1885491442
|
0.00001
|
|
NM_020937.4(FANCM):c.2361G>A (p.Met787Ile)
|
rs201921949
|
0.00001
|
|
NM_020937.4(FANCM):c.2385T>G (p.Ile795Met)
|
rs769468991
|
0.00001
|
|
NM_020937.4(FANCM):c.2389C>G (p.Pro797Ala)
|
rs144771929
|
0.00001
|
|
NM_020937.4(FANCM):c.2392A>G (p.Arg798Gly)
|
rs772286894
|
0.00001
|
|
NM_020937.4(FANCM):c.2423C>T (p.Thr808Ile)
|
rs200194850
|
0.00001
|
|
NM_020937.4(FANCM):c.2458A>G (p.Asn820Asp)
|
rs765507230
|
0.00001
|
|
NM_020937.4(FANCM):c.2485G>T (p.Val829Leu)
|
rs754426327
|
0.00001
|
|
NM_020937.4(FANCM):c.2602A>G (p.Lys868Glu)
|
rs770342366
|
0.00001
|
|
NM_020937.4(FANCM):c.2608A>G (p.Asn870Asp)
|
rs1453998176
|
0.00001
|
|
NM_020937.4(FANCM):c.2613T>G (p.Asn871Lys)
|
rs1453404140
|
0.00001
|
|
NM_020937.4(FANCM):c.2618G>T (p.Gly873Val)
|
rs766902093
|
0.00001
|
|
NM_020937.4(FANCM):c.2621T>C (p.Ile874Thr)
|
rs774139592
|
0.00001
|
|
NM_020937.4(FANCM):c.2635G>C (p.Asp879His)
|
rs375959944
|
0.00001
|
|
NM_020937.4(FANCM):c.2653A>G (p.Thr885Ala)
|
rs1182429346
|
0.00001
|
|
NM_020937.4(FANCM):c.2672A>C (p.Gln891Pro)
|
rs753820999
|
0.00001
|
|
NM_020937.4(FANCM):c.2692A>G (p.Lys898Glu)
|
rs747219710
|
0.00001
|
|
NM_020937.4(FANCM):c.2696G>A (p.Arg899Lys)
|
rs755241883
|
0.00001
|
|
NM_020937.4(FANCM):c.2714A>T (p.Glu905Val)
|
rs770155583
|
0.00001
|
|
NM_020937.4(FANCM):c.2725A>G (p.Thr909Ala)
|
rs1475086312
|
0.00001
|
|
NM_020937.4(FANCM):c.2750T>C (p.Ile917Thr)
|
rs753772148
|
0.00001
|
|
NM_020937.4(FANCM):c.2752A>G (p.Lys918Glu)
|
rs757244993
|
0.00001
|
|
NM_020937.4(FANCM):c.2755G>A (p.Glu919Lys)
|
rs184770388
|
0.00001
|
|
NM_020937.4(FANCM):c.2759C>T (p.Pro920Leu)
|
rs776256629
|
0.00001
|
|
NM_020937.4(FANCM):c.275G>A (p.Arg92Gln)
|
rs1885496616
|
0.00001
|
|
NM_020937.4(FANCM):c.2774C>T (p.Thr925Ile)
|
rs1227468338
|
0.00001
|
|
NM_020937.4(FANCM):c.2791A>G (p.Asn931Asp)
|
rs142798313
|
0.00001
|
|
NM_020937.4(FANCM):c.2807C>T (p.Ser936Leu)
|
rs1594798166
|
0.00001
|
|
NM_020937.4(FANCM):c.281A>G (p.Tyr94Cys)
|
rs1352722928
|
0.00001
|
|
NM_020937.4(FANCM):c.2834G>A (p.Gly945Asp)
|
rs1193165722
|
0.00001
|
|
NM_020937.4(FANCM):c.2843G>A (p.Ser948Asn)
|
rs1040437114
|
0.00001
|
|
NM_020937.4(FANCM):c.2849A>G (p.Asn950Ser)
|
rs775175323
|
0.00001
|
|
NM_020937.4(FANCM):c.2852A>G (p.Asp951Gly)
|
rs760309916
|
0.00001
|
|
NM_020937.4(FANCM):c.2871_2876del (p.Asn958_Leu959del)
|
rs1888628927
|
0.00001
|
|
NM_020937.4(FANCM):c.2881C>T (p.Leu961Phe)
|
rs1319257761
|
0.00001
|
|
NM_020937.4(FANCM):c.2922C>G (p.Asp974Glu)
|
rs1888633712
|
0.00001
|
|
NM_020937.4(FANCM):c.2962G>A (p.Ala988Thr)
|
rs1454000944
|
0.00001
|
|
NM_020937.4(FANCM):c.298C>G (p.Arg100Gly)
|
rs1438436722
|
0.00001
|
|
NM_020937.4(FANCM):c.298C>T (p.Arg100Trp)
|
rs1438436722
|
0.00001
|
|
NM_020937.4(FANCM):c.2999C>G (p.Pro1000Arg)
|
rs751314954
|
0.00001
|
|
NM_020937.4(FANCM):c.3023A>C (p.Glu1008Ala)
|
rs1420000591
|
0.00001
|
|
NM_020937.4(FANCM):c.3074G>A (p.Cys1025Tyr)
|
rs908243528
|
0.00001
|
|
NM_020937.4(FANCM):c.314G>T (p.Cys105Phe)
|
rs955997534
|
0.00001
|
|
NM_020937.4(FANCM):c.3175T>C (p.Tyr1059His)
|
rs755723099
|
0.00001
|
|
NM_020937.4(FANCM):c.3176A>T (p.Tyr1059Phe)
|
rs1888656410
|
0.00001
|
|
NM_020937.4(FANCM):c.3193T>G (p.Cys1065Gly)
|
rs201836469
|
0.00001
|
|
NM_020937.4(FANCM):c.3212A>G (p.Asn1071Ser)
|
rs1297760447
|
0.00001
|
|
NM_020937.4(FANCM):c.3293A>G (p.Asn1098Ser)
|
rs372995836
|
0.00001
|
|
NM_020937.4(FANCM):c.3295C>T (p.Arg1099Cys)
|
rs767815301
|
0.00001
|
|
NM_020937.4(FANCM):c.3308A>C (p.His1103Pro)
|
rs191339110
|
0.00001
|
|
NM_020937.4(FANCM):c.3332T>C (p.Val1111Ala)
|
rs376798467
|
0.00001
|
|
NM_020937.4(FANCM):c.3363T>G (p.Ser1121Arg)
|
rs746805378
|
0.00001
|
|
NM_020937.4(FANCM):c.3468C>G (p.Ser1156Arg)
|
rs756947100
|
0.00001
|
|
NM_020937.4(FANCM):c.3476T>C (p.Leu1159Ser)
|
rs1045206208
|
0.00001
|
|
NM_020937.4(FANCM):c.3550T>G (p.Leu1184Val)
|
rs1331676656
|
0.00001
|
|
NM_020937.4(FANCM):c.3573A>G (p.Gln1191=)
|
rs1307778741
|
0.00001
|
|
NM_020937.4(FANCM):c.3587G>A (p.Arg1196His)
|
rs751441742
|
0.00001
|
|
NM_020937.4(FANCM):c.3593C>G (p.Ala1198Gly)
|
rs754961557
|
0.00001
|
|
NM_020937.4(FANCM):c.3611G>A (p.Arg1204His)
|
rs867324948
|
0.00001
|
|
NM_020937.4(FANCM):c.364G>T (p.Ala122Ser)
|
rs1885507119
|
0.00001
|
|
NM_020937.4(FANCM):c.3658A>T (p.Ile1220Phe)
|
rs201839320
|
0.00001
|
|
NM_020937.4(FANCM):c.3667T>G (p.Cys1223Gly)
|
rs1888703962
|
0.00001
|
|
NM_020937.4(FANCM):c.3704G>T (p.Gly1235Val)
|
rs146490925
|
0.00001
|
|
NM_020937.4(FANCM):c.3763C>A (p.Pro1255Thr)
|
rs770651053
|
0.00001
|
|
NM_020937.4(FANCM):c.3854A>G (p.His1285Arg)
|
rs749696321
|
0.00001
|
|
NM_020937.4(FANCM):c.3887T>C (p.Ile1296Thr)
|
rs760563906
|
0.00001
|
|
NM_020937.4(FANCM):c.3889C>T (p.Pro1297Ser)
|
rs753821216
|
0.00001
|
|
NM_020937.4(FANCM):c.3898G>A (p.Glu1300Lys)
|
rs751795256
|
0.00001
|
|
NM_020937.4(FANCM):c.3971G>A (p.Gly1324Asp)
|
rs1888731038
|
0.00001
|
|
NM_020937.4(FANCM):c.4057A>G (p.Ile1353Val)
|
rs759767076
|
0.00001
|
|
NM_020937.4(FANCM):c.4076A>G (p.Lys1359Arg)
|
rs758862288
|
0.00001
|
|
NM_020937.4(FANCM):c.4098A>T (p.Glu1366Asp)
|
rs550675560
|
0.00001
|
|
NM_020937.4(FANCM):c.4105A>G (p.Asn1369Asp)
|
rs1248092760
|
0.00001
|
|
NM_020937.4(FANCM):c.4107C>A (p.Asn1369Lys)
|
rs113664919
|
0.00001
|
|
NM_020937.4(FANCM):c.410T>C (p.Val137Ala)
|
rs748823532
|
0.00001
|
|
NM_020937.4(FANCM):c.4126G>A (p.Ala1376Thr)
|
rs373590893
|
0.00001
|
|
NM_020937.4(FANCM):c.4189A>G (p.Met1397Val)
|
rs376581960
|
0.00001
|
|
NM_020937.4(FANCM):c.4193A>G (p.Tyr1398Cys)
|
rs534229547
|
0.00001
|
|
NM_020937.4(FANCM):c.4213T>G (p.Ser1405Ala)
|
rs1412826290
|
0.00001
|
|
NM_020937.4(FANCM):c.422C>T (p.Ala141Val)
|
rs774380823
|
0.00001
|
|
NM_020937.4(FANCM):c.424C>T (p.Pro142Ser)
|
rs771875070
|
0.00001
|
|
NM_020937.4(FANCM):c.4322A>C (p.Gln1441Pro)
|
rs768911217
|
0.00001
|
|
NM_020937.4(FANCM):c.4343C>T (p.Ser1448Phe)
|
rs774526380
|
0.00001
|
|
NM_020937.4(FANCM):c.4375C>G (p.Pro1459Ala)
|
rs1429932349
|
0.00001
|
|
NM_020937.4(FANCM):c.4429C>A (p.Pro1477Thr)
|
rs1373913163
|
0.00001
|
|
NM_020937.4(FANCM):c.4439A>G (p.Gln1480Arg)
|
rs772095334
|
0.00001
|
|
NM_020937.4(FANCM):c.4452C>G (p.Phe1484Leu)
|
rs143239291
|
0.00001
|
|
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)
|
rs183784665
|
0.00001
|
|
NM_020937.4(FANCM):c.4504A>G (p.Ser1502Gly)
|
rs779176062
|
0.00001
|
|
NM_020937.4(FANCM):c.4519G>A (p.Val1507Ile)
|
rs945620719
|
0.00001
|
|
NM_020937.4(FANCM):c.4565A>G (p.Asp1522Gly)
|
rs199514189
|
0.00001
|
|
NM_020937.4(FANCM):c.4574A>G (p.Tyr1525Cys)
|
rs748721088
|
0.00001
|
|
NM_020937.4(FANCM):c.4574A>T (p.Tyr1525Phe)
|
rs748721088
|
0.00001
|
|
NM_020937.4(FANCM):c.4672G>C (p.Asp1558His)
|
rs1251556461
|
0.00001
|
|
NM_020937.4(FANCM):c.4687G>C (p.Ala1563Pro)
|
rs377410891
|
0.00001
|
|
NM_020937.4(FANCM):c.4690A>G (p.Ile1564Val)
|
rs540558068
|
0.00001
|
|
NM_020937.4(FANCM):c.470T>A (p.Val157Glu)
|
rs1165497144
|
0.00001
|
|
NM_020937.4(FANCM):c.4717A>G (p.Met1573Val)
|
rs780976564
|
0.00001
|
|
NM_020937.4(FANCM):c.4727A>G (p.Asn1576Ser)
|
rs748182153
|
0.00001
|
|
NM_020937.4(FANCM):c.4762A>G (p.Ile1588Val)
|
rs910499638
|
0.00001
|
|
NM_020937.4(FANCM):c.4793A>G (p.Asp1598Gly)
|
rs1405769485
|
0.00001
|
|
NM_020937.4(FANCM):c.4798A>G (p.Thr1600Ala)
|
rs779658679
|
0.00001
|
|
NM_020937.4(FANCM):c.479T>A (p.Ile160Asn)
|
rs781618421
|
0.00001
|
|
NM_020937.4(FANCM):c.4820G>T (p.Cys1607Phe)
|
rs769869730
|
0.00001
|
|
NM_020937.4(FANCM):c.4847G>A (p.Gly1616Asp)
|
rs1232508556
|
0.00001
|
|
NM_020937.4(FANCM):c.4871G>T (p.Cys1624Phe)
|
rs1457271846
|
0.00001
|
|
NM_020937.4(FANCM):c.4913G>A (p.Ser1638Asn)
|
rs776797107
|
0.00001
|
|
NM_020937.4(FANCM):c.4928C>T (p.Thr1643Ile)
|
rs762187580
|
0.00001
|
|
NM_020937.4(FANCM):c.4946T>G (p.Leu1649Arg)
|
rs1472981713
|
0.00001
|
|
NM_020937.4(FANCM):c.4951G>A (p.Glu1651Lys)
|
rs752279370
|
0.00001
|
|
NM_020937.4(FANCM):c.5048A>G (p.Lys1683Arg)
|
rs763454366
|
0.00001
|
|
NM_020937.4(FANCM):c.5152G>A (p.Val1718Met)
|
rs371629950
|
0.00001
|
|
NM_020937.4(FANCM):c.5155C>T (p.Arg1719Cys)
|
rs1444402627
|
0.00001
|
|
NM_020937.4(FANCM):c.5156G>A (p.Arg1719His)
|
rs760421586
|
0.00001
|
|
NM_020937.4(FANCM):c.5204C>T (p.Ser1735Leu)
|
rs112745068
|
0.00001
|
|
NM_020937.4(FANCM):c.5228C>A (p.Ser1743Tyr)
|
rs768392812
|
0.00001
|
|
NM_020937.4(FANCM):c.5230G>A (p.Glu1744Lys)
|
rs776474104
|
0.00001
|
|
NM_020937.4(FANCM):c.5240A>G (p.Asp1747Gly)
|
rs764718852
|
0.00001
|
|
NM_020937.4(FANCM):c.5258A>G (p.His1753Arg)
|
rs371891604
|
0.00001
|
|
NM_020937.4(FANCM):c.5317A>G (p.Arg1773Gly)
|
rs1356723831
|
0.00001
|
|
NM_020937.4(FANCM):c.5337G>T (p.Gln1779His)
|
rs374822670
|
0.00001
|
|
NM_020937.4(FANCM):c.5342A>G (p.Asp1781Gly)
|
rs752053357
|
0.00001
|
|
NM_020937.4(FANCM):c.5359G>T (p.Asp1787Tyr)
|
rs1465506378
|
0.00001
|
|
NM_020937.4(FANCM):c.5397A>T (p.Arg1799Ser)
|
rs759165724
|
0.00001
|
|
NM_020937.4(FANCM):c.5413A>G (p.Thr1805Ala)
|
rs1195945183
|
0.00001
|
|
NM_020937.4(FANCM):c.5435C>T (p.Pro1812Leu)
|
rs200095329
|
0.00001
|
|
NM_020937.4(FANCM):c.5474A>G (p.His1825Arg)
|
rs751719012
|
0.00001
|
|
NM_020937.4(FANCM):c.5496A>C (p.Glu1832Asp)
|
rs374303319
|
0.00001
|
|
NM_020937.4(FANCM):c.5533G>A (p.Val1845Ile)
|
rs775021812
|
0.00001
|
|
NM_020937.4(FANCM):c.5578C>T (p.Arg1860Cys)
|
rs139996409
|
0.00001
|
|
NM_020937.4(FANCM):c.5618A>G (p.Asn1873Ser)
|
rs1890063869
|
0.00001
|
|
NM_020937.4(FANCM):c.565C>G (p.Leu189Val)
|
rs149010517
|
0.00001
|
|
NM_020937.4(FANCM):c.5681T>C (p.Ile1894Thr)
|
rs1308170151
|
0.00001
|
|
NM_020937.4(FANCM):c.5702A>G (p.Asp1901Gly)
|
rs1164461453
|
0.00001
|
|
NM_020937.4(FANCM):c.5736T>A (p.Phe1912Leu)
|
rs755903696
|
0.00001
|
|
NM_020937.4(FANCM):c.575A>T (p.Gln192Leu)
|
rs768031730
|
0.00001
|
|
NM_020937.4(FANCM):c.5782G>A (p.Ala1928Thr)
|
rs1890206013
|
0.00001
|
|
NM_020937.4(FANCM):c.5792G>A (p.Arg1931Gln)
|
rs773595869
|
0.00001
|
|
NM_020937.4(FANCM):c.5824G>A (p.Ala1942Thr)
|
rs759078220
|
0.00001
|
|
NM_020937.4(FANCM):c.5838G>C (p.Lys1946Asn)
|
rs1060501893
|
0.00001
|
|
NM_020937.4(FANCM):c.5855A>G (p.Glu1952Gly)
|
rs1594486115
|
0.00001
|
|
NM_020937.4(FANCM):c.5917C>T (p.Leu1973Phe)
|
rs1890214915
|
0.00001
|
|
NM_020937.4(FANCM):c.6020A>G (p.Glu2007Gly)
|
rs1350057442
|
0.00001
|
|
NM_020937.4(FANCM):c.6129A>T (p.Arg2043Ser)
|
rs772632630
|
0.00001
|
|
NM_020937.4(FANCM):c.635T>A (p.Val212Asp)
|
rs1277508701
|
0.00001
|
|
NM_020937.4(FANCM):c.650A>G (p.His217Arg)
|
rs532404406
|
0.00001
|
|
NM_020937.4(FANCM):c.673T>C (p.Tyr225His)
|
rs771120876
|
0.00001
|
|
NM_020937.4(FANCM):c.809G>A (p.Arg270His)
|
rs759079934
|
0.00001
|
|
NM_020937.4(FANCM):c.812C>G (p.Ser271Cys)
|
rs767396394
|
0.00001
|
|
NM_020937.4(FANCM):c.824C>T (p.Pro275Leu)
|
rs1436183493
|
0.00001
|
|
NM_020937.4(FANCM):c.868A>G (p.Ile290Val)
|
rs780426259
|
0.00001
|
|
NM_020937.4(FANCM):c.898A>G (p.Ile300Val)
|
rs749659002
|
0.00001
|
|
NM_020937.4(FANCM):c.925G>A (p.Glu309Lys)
|
rs778377621
|
0.00001
|
|
NM_020937.4(FANCM):c.938G>A (p.Arg313His)
|
rs767487612
|
0.00001
|
|
NM_020937.4(FANCM):c.946A>G (p.Ile316Val)
|
rs1401549421
|
0.00001
|
|
NM_020937.4(FANCM):c.963G>C (p.Leu321Phe)
|
rs761891998
|
0.00001
|
|
NM_020937.4(FANCM):c.980C>T (p.Pro327Leu)
|
rs879849364
|
0.00001
|
|
NM_020937.4(FANCM):c.985C>G (p.Leu329Val)
|
rs750311376
|
0.00001
|
|
NM_020937.4(FANCM):c.98A>G (p.Gln33Arg)
|
rs759911498
|
0.00001
|
|
NM_021922.3(FANCE):c.1034G>A (p.Cys345Tyr)
|
rs1007410805
|
0.00001
|
|
NM_021922.3(FANCE):c.104C>T (p.Ala35Val)
|
rs570498238
|
0.00001
|
|
NM_021922.3(FANCE):c.1112G>A (p.Arg371Gln)
|
rs1351881430
|
0.00001
|
|
NM_021922.3(FANCE):c.1130C>T (p.Ser377Phe)
|
rs1236565765
|
0.00001
|
|
NM_021922.3(FANCE):c.1142G>A (p.Arg381His)
|
rs374232967
|
0.00001
|
|
NM_021922.3(FANCE):c.128G>A (p.Gly43Asp)
|
rs1767154137
|
0.00001
|
|
NM_021922.3(FANCE):c.1290G>T (p.Glu430Asp)
|
rs886061331
|
0.00001
|
|
NM_021922.3(FANCE):c.1309A>G (p.Met437Val)
|
rs746770705
|
0.00001
|
|
NM_021922.3(FANCE):c.1331T>C (p.Leu444Pro)
|
rs745685973
|
0.00001
|
|
NM_021922.3(FANCE):c.1356G>C (p.Leu452Phe)
|
rs1488514330
|
0.00001
|
|
NM_021922.3(FANCE):c.136G>T (p.Val46Leu)
|
rs1366722396
|
0.00001
|
|
NM_021922.3(FANCE):c.1501C>G (p.Gln501Glu)
|
rs746321808
|
0.00001
|
|
NM_021922.3(FANCE):c.1510-1G>A
|
rs772678337
|
0.00001
|
|
NM_021922.3(FANCE):c.1517A>G (p.Glu506Gly)
|
rs766291860
|
0.00001
|
|
NM_021922.3(FANCE):c.1520C>T (p.Thr507Ile)
|
rs1413425638
|
0.00001
|
|
NM_021922.3(FANCE):c.1573A>G (p.Lys525Glu)
|
rs1256798501
|
0.00001
|
|
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln)
|
rs749697038
|
0.00001
|
|
NM_021922.3(FANCE):c.214C>T (p.Pro72Ser)
|
rs890865684
|
0.00001
|
|
NM_021922.3(FANCE):c.275G>A (p.Arg92Gln)
|
rs369035099
|
0.00001
|
|
NM_021922.3(FANCE):c.328C>T (p.Pro110Ser)
|
rs763968547
|
0.00001
|
|
NM_021922.3(FANCE):c.338G>C (p.Gly113Ala)
|
rs780304950
|
0.00001
|
|
NM_021922.3(FANCE):c.365A>T (p.Gln122Leu)
|
rs1554121253
|
0.00001
|
|
NM_021922.3(FANCE):c.400C>T (p.Arg134Cys)
|
rs181761362
|
0.00001
|
|
NM_021922.3(FANCE):c.401G>A (p.Arg134His)
|
rs774939689
|
0.00001
|
|
NM_021922.3(FANCE):c.436G>T (p.Val146Leu)
|
rs755204532
|
0.00001
|
|
NM_021922.3(FANCE):c.449T>C (p.Met150Thr)
|
rs752797466
|
0.00001
|
|
NM_021922.3(FANCE):c.502T>C (p.Cys168Arg)
|
rs370057221
|
0.00001
|
|
NM_021922.3(FANCE):c.533T>G (p.Leu178Trp)
|
rs764017469
|
0.00001
|
|
NM_021922.3(FANCE):c.535A>C (p.Lys179Gln)
|
rs751676807
|
0.00001
|
|
NM_021922.3(FANCE):c.599G>A (p.Arg200His)
|
rs150278839
|
0.00001
|
|
NM_021922.3(FANCE):c.652A>G (p.Lys218Glu)
|
rs370659315
|
0.00001
|
|
NM_021922.3(FANCE):c.662G>A (p.Arg221Gln)
|
rs777849670
|
0.00001
|
|
NM_021922.3(FANCE):c.685C>T (p.His229Tyr)
|
rs142737128
|
0.00001
|
|
NM_021922.3(FANCE):c.763C>A (p.Pro255Thr)
|
rs766901564
|
0.00001
|
|
NM_021922.3(FANCE):c.821T>C (p.Leu274Pro)
|
rs376591931
|
0.00001
|
|
NM_021922.3(FANCE):c.862C>T (p.Leu288Phe)
|
rs886061329
|
0.00001
|
|
NM_021922.3(FANCE):c.938T>C (p.Leu313Pro)
|
rs1767415225
|
0.00001
|
|
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp)
|
rs779336261
|
0.00001
|
|
NM_021922.3(FANCE):c.998T>C (p.Leu333Pro)
|
rs770592868
|
0.00001
|
|
NM_022725.4(FANCF):c.1056A>C (p.Leu352Phe)
|
rs754545069
|
0.00001
|
|
NM_022725.4(FANCF):c.1060C>T (p.Leu354Phe)
|
rs1858614394
|
0.00001
|
|
NM_022725.4(FANCF):c.1078A>G (p.Arg360Gly)
|
rs1357749824
|
0.00001
|
|
NM_022725.4(FANCF):c.1114A>G (p.Ser372Gly)
|
rs760590516
|
0.00001
|
|
NM_022725.4(FANCF):c.116G>A (p.Arg39His)
|
rs778953394
|
0.00001
|
|
NM_022725.4(FANCF):c.128A>C (p.His43Pro)
|
rs761221734
|
0.00001
|
|
NM_022725.4(FANCF):c.133C>T (p.His45Tyr)
|
rs753116878
|
0.00001
|
|
NM_022725.4(FANCF):c.14T>C (p.Leu5Pro)
|
rs1159900858
|
0.00001
|
|
NM_022725.4(FANCF):c.166A>G (p.Thr56Ala)
|
rs772736775
|
0.00001
|
|
NM_022725.4(FANCF):c.182G>T (p.Arg61Leu)
|
rs779046357
|
0.00001
|
|
NM_022725.4(FANCF):c.189C>G (p.His63Gln)
|
rs1014150752
|
0.00001
|
|
NM_022725.4(FANCF):c.19C>G (p.His7Asp)
|
rs749273752
|
0.00001
|
|
NM_022725.4(FANCF):c.232C>A (p.Pro78Thr)
|
rs554712164
|
0.00001
|
|
NM_022725.4(FANCF):c.233C>T (p.Pro78Leu)
|
rs928361745
|
0.00001
|
|
NM_022725.4(FANCF):c.251A>G (p.Gln84Arg)
|
rs756488831
|
0.00001
|
|
NM_022725.4(FANCF):c.332T>C (p.Leu111Pro)
|
rs373385251
|
0.00001
|
|
NM_022725.4(FANCF):c.338A>G (p.Gln113Arg)
|
rs757993614
|
0.00001
|
|
NM_022725.4(FANCF):c.356C>T (p.Pro119Leu)
|
rs760472320
|
0.00001
|
|
NM_022725.4(FANCF):c.380A>G (p.Glu127Gly)
|
rs1216924776
|
0.00001
|
|
NM_022725.4(FANCF):c.436C>G (p.Leu146Val)
|
rs779428484
|
0.00001
|
|
NM_022725.4(FANCF):c.466A>G (p.Asn156Asp)
|
rs370979205
|
0.00001
|
|
NM_022725.4(FANCF):c.469C>T (p.Leu157Phe)
|
rs1060501870
|
0.00001
|
|
NM_022725.4(FANCF):c.580G>A (p.Glu194Lys)
|
rs893075597
|
0.00001
|
|
NM_022725.4(FANCF):c.583C>A (p.Arg195Ser)
|
rs1231820160
|
0.00001
|
|
NM_022725.4(FANCF):c.680A>G (p.His227Arg)
|
rs1248152779
|
0.00001
|
|
NM_022725.4(FANCF):c.705A>C (p.Gln235His)
|
rs768107677
|
0.00001
|
|
NM_022725.4(FANCF):c.83C>G (p.Pro28Arg)
|
rs374063561
|
0.00001
|
|
NM_022725.4(FANCF):c.849A>C (p.Gln283His)
|
rs146848948
|
0.00001
|
|
NM_022725.4(FANCF):c.877A>G (p.Ile293Val)
|
rs780747014
|
0.00001
|
|
NM_022725.4(FANCF):c.907C>T (p.Pro303Ser)
|
rs199717587
|
0.00001
|
|
NM_022725.4(FANCF):c.936A>T (p.Gln312His)
|
rs371631248
|
0.00001
|
|
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile)
|
rs774768179
|
0.00001
|
|
NM_023110.3(FGFR1):c.1078G>A (p.Glu360Lys)
|
rs982371464
|
0.00001
|
|
NM_023110.3(FGFR1):c.1100C>T (p.Ala367Val)
|
rs1324436328
|
0.00001
|
|
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser)
|
rs377648976
|
0.00001
|
|
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys)
|
rs1085307493
|
0.00001
|
|
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp)
|
rs781608303
|
0.00001
|
|
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser)
|
rs397515444
|
0.00001
|
|
NM_023110.3(FGFR1):c.1492A>G (p.Ile498Val)
|
rs767419329
|
0.00001
|
|
NM_023110.3(FGFR1):c.1554G>A (p.Ser518=)
|
rs199499923
|
0.00001
|
|
NM_023110.3(FGFR1):c.1558G>A (p.Ala520Thr)
|
rs749758370
|
0.00001
|
|
NM_023110.3(FGFR1):c.160C>T (p.Arg54Cys)
|
rs778531708
|
0.00001
|
|
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys)
|
rs771720144
|
0.00001
|
|
NM_023110.3(FGFR1):c.1721A>G (p.Gln574Arg)
|
rs903239767
|
0.00001
|
|
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln)
|
rs200116660
|
0.00001
|
|
NM_023110.3(FGFR1):c.1774G>A (p.Glu592Lys)
|
rs755002934
|
0.00001
|
|
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg)
|
rs532741632
|
0.00001
|
|
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp)
|
rs1329256283
|
0.00001
|
|
NM_023110.3(FGFR1):c.2272G>A (p.Val758Met)
|
rs527606454
|
0.00001
|
|
NM_023110.3(FGFR1):c.2292+6G>T
|
rs905873179
|
0.00001
|
|
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp)
|
rs377149398
|
0.00001
|
|
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs)
|
rs767698667
|
0.00001
|
|
NM_023110.3(FGFR1):c.2447A>G (p.Asn816Ser)
|
rs1815142188
|
0.00001
|
|
NM_023110.3(FGFR1):c.2452G>A (p.Gly818Arg)
|
rs17182456
|
0.00001
|
|
NM_023110.3(FGFR1):c.274G>A (p.Val92Met)
|
rs755828990
|
0.00001
|
|
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile)
|
rs775020833
|
0.00001
|
|
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile)
|
rs747842199
|
0.00001
|
|
NM_023110.3(FGFR1):c.374C>T (p.Ser125Leu)
|
rs121913473
|
0.00001
|
|
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu)
|
rs750795714
|
0.00001
|
|
NM_023110.3(FGFR1):c.38T>C (p.Leu13Pro)
|
rs764533580
|
0.00001
|
|
NM_023110.3(FGFR1):c.448C>T (p.Pro150Ser)
|
rs746094709
|
0.00001
|
|
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg)
|
rs770139002
|
0.00001
|
|
NM_023110.3(FGFR1):c.621+4C>T
|
rs750639887
|
0.00001
|
|
NM_023110.3(FGFR1):c.646A>G (p.Ile216Val)
|
rs763771933
|
0.00001
|
|
NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu)
|
rs143341876
|
0.00001
|
|
NM_023110.3(FGFR1):c.81G>T (p.Leu27Phe)
|
rs1230569367
|
0.00001
|
|
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn)
|
rs751651299
|
0.00001
|
|
NM_023110.3(FGFR1):c.91+6G>T
|
rs886062921
|
0.00001
|
|
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)
|
rs755796609
|
0.00001
|
|
NM_032043.3(BRIP1):c.103G>A (p.Gly35Arg)
|
rs373104267
|
0.00001
|
|
NM_032043.3(BRIP1):c.1054T>C (p.Tyr352His)
|
rs730881632
|
0.00001
|
|
NM_032043.3(BRIP1):c.1055A>G (p.Tyr352Cys)
|
rs762417690
|
0.00001
|
|
NM_032043.3(BRIP1):c.1057T>C (p.Tyr353His)
|
rs1567831780
|
0.00001
|
|
NM_032043.3(BRIP1):c.1061C>T (p.Thr354Ile)
|
rs776939714
|
0.00001
|
|
NM_032043.3(BRIP1):c.1077A>G (p.Ile359Met)
|
rs730881634
|
0.00001
|
|
NM_032043.3(BRIP1):c.10A>G (p.Met4Val)
|
rs45512093
|
0.00001
|
|
NM_032043.3(BRIP1):c.1105T>C (p.Tyr369His)
|
rs587781325
|
0.00001
|
|
NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser)
|
rs777511615
|
0.00001
|
|
NM_032043.3(BRIP1):c.1114C>T (p.Leu372Phe)
|
rs786202637
|
0.00001
|
|
NM_032043.3(BRIP1):c.1184C>A (p.Ala395Asp)
|
rs778992385
|
0.00001
|
|
NM_032043.3(BRIP1):c.1187A>G (p.His396Arg)
|
rs996493095
|
0.00001
|
|
NM_032043.3(BRIP1):c.1192A>G (p.Ile398Val)
|
rs786203967
|
0.00001
|
|
NM_032043.3(BRIP1):c.1195G>A (p.Glu399Lys)
|
rs587782816
|
0.00001
|
|
NM_032043.3(BRIP1):c.1198G>T (p.Asp400Tyr)
|
rs764711572
|
0.00001
|
|
NM_032043.3(BRIP1):c.1202G>A (p.Cys401Tyr)
|
rs1340018456
|
0.00001
|
|
NM_032043.3(BRIP1):c.1208G>A (p.Arg403Gln)
|
rs786202780
|
0.00001
|
|
NM_032043.3(BRIP1):c.1216G>T (p.Ala406Ser)
|
rs1060501747
|
0.00001
|
|
NM_032043.3(BRIP1):c.1217C>T (p.Ala406Val)
|
rs767872861
|
0.00001
|
|
NM_032043.3(BRIP1):c.1247G>A (p.Arg416Gln)
|
rs772570870
|
0.00001
|
|
NM_032043.3(BRIP1):c.1256G>A (p.Arg419Gln)
|
rs748105919
|
0.00001
|
|
NM_032043.3(BRIP1):c.1268A>G (p.Asp423Gly)
|
rs746778889
|
0.00001
|
|
NM_032043.3(BRIP1):c.1283A>G (p.Asn428Ser)
|
rs779237423
|
0.00001
|
|
NM_032043.3(BRIP1):c.1286A>C (p.Asn429Thr)
|
rs587781463
|
0.00001
|
|
NM_032043.3(BRIP1):c.1297A>G (p.Lys433Glu)
|
rs2077947326
|
0.00001
|
|
NM_032043.3(BRIP1):c.1304A>G (p.His435Arg)
|
rs730881636
|
0.00001
|
|
NM_032043.3(BRIP1):c.1316G>A (p.Arg439Gln)
|
rs753214212
|
0.00001
|
|
NM_032043.3(BRIP1):c.1321G>A (p.Val441Met)
|
rs1060501782
|
0.00001
|
|
NM_032043.3(BRIP1):c.1322T>C (p.Val441Ala)
|
rs1458068665
|
0.00001
|
|
NM_032043.3(BRIP1):c.134A>G (p.Glu45Gly)
|
rs2078950725
|
0.00001
|
|
NM_032043.3(BRIP1):c.1357G>A (p.Ala453Thr)
|
rs587780227
|
0.00001
|
|
NM_032043.3(BRIP1):c.1361A>T (p.Glu454Val)
|
rs769918040
|
0.00001
|
|
NM_032043.3(BRIP1):c.1363T>A (p.Tyr455Asn)
|
rs587780826
|
0.00001
|
|
NM_032043.3(BRIP1):c.1369G>C (p.Val457Leu)
|
rs748221377
|
0.00001
|
|
NM_032043.3(BRIP1):c.1375A>G (p.Arg459Gly)
|
rs752052351
|
0.00001
|
|
NM_032043.3(BRIP1):c.143C>A (p.Thr48Lys)
|
rs755317452
|
0.00001
|
|
NM_032043.3(BRIP1):c.1441G>T (p.Gly481Cys)
|
rs587780229
|
0.00001
|
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
|
NM_032043.3(BRIP1):c.1467T>G (p.Ile489Met)
|
rs587780230
|
0.00001
|
|
NM_032043.3(BRIP1):c.1483T>C (p.Ser495Pro)
|
rs1555603617
|
0.00001
|
|
NM_032043.3(BRIP1):c.1532A>G (p.Glu511Gly)
|
rs1555603565
|
0.00001
|
|
NM_032043.3(BRIP1):c.1571A>G (p.Gln524Arg)
|
rs587781726
|
0.00001
|
|
NM_032043.3(BRIP1):c.1586G>A (p.Gly529Glu)
|
rs138784299
|
0.00001
|
|
NM_032043.3(BRIP1):c.1594A>G (p.Met532Val)
|
rs876658383
|
0.00001
|
|
NM_032043.3(BRIP1):c.1595T>C (p.Met532Thr)
|
rs1179705368
|
0.00001
|
|
NM_032043.3(BRIP1):c.1607A>G (p.Tyr536Cys)
|
rs1060501752
|
0.00001
|
|
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu)
|
rs754414731
|
0.00001
|
|
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met)
|
rs587782254
|
0.00001
|
|
NM_032043.3(BRIP1):c.1651G>A (p.Ala551Thr)
|
rs766302517
|
0.00001
|
|
NM_032043.3(BRIP1):c.1670C>T (p.Ser557Phe)
|
rs1375911072
|
0.00001
|
|
NM_032043.3(BRIP1):c.1672T>C (p.Trp558Arg)
|
rs767648925
|
0.00001
|
|
NM_032043.3(BRIP1):c.1684A>G (p.Ile562Val)
|
rs45533636
|
0.00001
|
|
NM_032043.3(BRIP1):c.1696G>A (p.Asp566Asn)
|
rs1289102059
|
0.00001
|
|
NM_032043.3(BRIP1):c.1704T>G (p.Asn568Lys)
|
rs763458922
|
0.00001
|
|
NM_032043.3(BRIP1):c.170T>G (p.Leu57Arg)
|
rs1435822764
|
0.00001
|
|
NM_032043.3(BRIP1):c.1717C>G (p.Leu573Val)
|
rs786202587
|
0.00001
|
|
NM_032043.3(BRIP1):c.1730A>T (p.Lys577Met)
|
rs1411869768
|
0.00001
|
|
NM_032043.3(BRIP1):c.1742G>A (p.Arg581Gln)
|
rs587778133
|
0.00001
|
|
NM_032043.3(BRIP1):c.1748A>G (p.Lys583Arg)
|
rs876658547
|
0.00001
|
|
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu)
|
rs756946068
|
0.00001
|
|
NM_032043.3(BRIP1):c.1771T>A (p.Phe591Ile)
|
rs876661057
|
0.00001
|
|
NM_032043.3(BRIP1):c.1800T>G (p.Phe600Leu)
|
rs375625993
|
0.00001
|
|
NM_032043.3(BRIP1):c.1801T>G (p.Ser601Ala)
|
rs1317946589
|
0.00001
|
|
NM_032043.3(BRIP1):c.1804G>T (p.Asp602Tyr)
|
rs770750488
|
0.00001
|
|
NM_032043.3(BRIP1):c.1838C>G (p.Thr613Arg)
|
rs864622345
|
0.00001
|
|
NM_032043.3(BRIP1):c.1873T>C (p.Ser625Pro)
|
rs935011040
|
0.00001
|
|
NM_032043.3(BRIP1):c.1903C>A (p.Leu635Met)
|
rs754280136
|
0.00001
|
|
NM_032043.3(BRIP1):c.1935G>C (p.Gln645His)
|
rs1254051324
|
0.00001
|
|
NM_032043.3(BRIP1):c.1942G>A (p.Val648Ile)
|
rs780475484
|
0.00001
|
|
NM_032043.3(BRIP1):c.1952T>C (p.Ile651Thr)
|
rs757305097
|
0.00001
|
|
NM_032043.3(BRIP1):c.1969G>C (p.Gly657Arg)
|
rs1051619247
|
0.00001
|
|
NM_032043.3(BRIP1):c.1981T>C (p.Cys661Arg)
|
rs876660402
|
0.00001
|
|
NM_032043.3(BRIP1):c.1984G>A (p.Ala662Thr)
|
rs571340013
|
0.00001
|
|
NM_032043.3(BRIP1):c.19G>C (p.Glu7Gln)
|
rs1246321339
|
0.00001
|
|
NM_032043.3(BRIP1):c.1A>G (p.Met1Val)
|
rs764585550
|
0.00001
|
|
NM_032043.3(BRIP1):c.2048T>G (p.Val683Gly)
|
rs1294492499
|
0.00001
|
|
NM_032043.3(BRIP1):c.2056A>G (p.Thr686Ala)
|
rs769820537
|
0.00001
|
|
NM_032043.3(BRIP1):c.205G>A (p.Gly69Arg)
|
rs372581879
|
0.00001
|
|
NM_032043.3(BRIP1):c.206-2A>G
|
rs786203700
|
0.00001
|
|
NM_032043.3(BRIP1):c.2069G>A (p.Gly690Glu)
|
rs878855144
|
0.00001
|
|
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu)
|
rs587782356
|
0.00001
|
|
NM_032043.3(BRIP1):c.2107A>C (p.Lys703Gln)
|
rs762590242
|
0.00001
|
|
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)
|
rs764803896
|
0.00001
|
|
NM_032043.3(BRIP1):c.2167G>A (p.Val723Ile)
|
rs145616741
|
0.00001
|
|
NM_032043.3(BRIP1):c.2179C>G (p.Pro727Ala)
|
rs769797684
|
0.00001
|
|
NM_032043.3(BRIP1):c.2203T>C (p.Phe735Leu)
|
rs1353526212
|
0.00001
|
|
NM_032043.3(BRIP1):c.2247A>T (p.Lys749Asn)
|
rs587782556
|
0.00001
|
|
NM_032043.3(BRIP1):c.2257+5C>T
|
rs1057523068
|
0.00001
|
|
NM_032043.3(BRIP1):c.2257+6_2257+7del
|
rs1255940179
|
0.00001
|
|
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly)
|
rs745578572
|
0.00001
|
|
NM_032043.3(BRIP1):c.226G>A (p.Val76Ile)
|
rs769573395
|
0.00001
|
|
NM_032043.3(BRIP1):c.2281T>G (p.Cys761Gly)
|
rs1422958547
|
0.00001
|
|
NM_032043.3(BRIP1):c.2284C>T (p.Arg762Cys)
|
rs587778136
|
0.00001
|
|
NM_032043.3(BRIP1):c.2330G>A (p.Arg777His)
|
rs747568830
|
0.00001
|
|
NM_032043.3(BRIP1):c.2338A>C (p.Ile780Leu)
|
rs776131401
|
0.00001
|
|
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val)
|
rs142806416
|
0.00001
|
|
NM_032043.3(BRIP1):c.2345T>C (p.Ile782Thr)
|
rs778758437
|
0.00001
|
|
NM_032043.3(BRIP1):c.2371G>T (p.Asp791Tyr)
|
rs1289778155
|
0.00001
|
|
NM_032043.3(BRIP1):c.2380-3T>A
|
rs587782542
|
0.00001
|
|
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)
|
rs730881622
|
0.00001
|
|
NM_032043.3(BRIP1):c.2393G>A (p.Arg798Gln)
|
rs375082407
|
0.00001
|
|
NM_032043.3(BRIP1):c.2402A>G (p.Asn801Ser)
|
rs1325317591
|
0.00001
|
|
NM_032043.3(BRIP1):c.2428C>G (p.Leu810Val)
|
rs587780238
|
0.00001
|
|
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)
|
rs45468199
|
0.00001
|
|
NM_032043.3(BRIP1):c.2464T>C (p.Tyr822His)
|
rs760887592
|
0.00001
|
|
NM_032043.3(BRIP1):c.2477A>G (p.Asn826Ser)
|
rs760127237
|
0.00001
|
|
NM_032043.3(BRIP1):c.2492+5G>A
|
rs763222019
|
0.00001
|
|
NM_032043.3(BRIP1):c.2535G>A (p.Val845=)
|
rs1555574772
|
0.00001
|
|
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu)
|
rs587781830
|
0.00001
|
|
NM_032043.3(BRIP1):c.2569A>G (p.Ile857Val)
|
rs28904918
|
0.00001
|
|
NM_032043.3(BRIP1):c.2571A>G (p.Ile857Met)
|
rs1427254734
|
0.00001
|
|
NM_032043.3(BRIP1):c.2575+4A>G
|
rs758858747
|
0.00001
|
|
NM_032043.3(BRIP1):c.2579T>C (p.Leu860Pro)
|
rs587780242
|
0.00001
|
|
NM_032043.3(BRIP1):c.2582C>G (p.Ser861Cys)
|
rs774415723
|
0.00001
|
|
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln)
|
rs781609846
|
0.00001
|
|
NM_032043.3(BRIP1):c.2617A>G (p.Thr873Ala)
|
rs758444508
|
0.00001
|
|
NM_032043.3(BRIP1):c.2623G>C (p.Glu875Gln)
|
rs876659099
|
0.00001
|
|
NM_032043.3(BRIP1):c.2648A>C (p.Glu883Ala)
|
rs1453990721
|
0.00001
|
|
NM_032043.3(BRIP1):c.2671G>C (p.Val891Leu)
|
rs754224663
|
0.00001
|
|
NM_032043.3(BRIP1):c.2686A>G (p.Ile896Val)
|
rs764406913
|
0.00001
|
|
NM_032043.3(BRIP1):c.269G>A (p.Cys90Tyr)
|
rs1221074399
|
0.00001
|
|
NM_032043.3(BRIP1):c.2705T>C (p.Ile902Thr)
|
rs1060501781
|
0.00001
|
|
NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met)
|
rs587780244
|
0.00001
|
|
NM_032043.3(BRIP1):c.2723C>T (p.Thr908Ile)
|
rs786201919
|
0.00001
|
|
NM_032043.3(BRIP1):c.2728G>A (p.Glu910Lys)
|
rs1007808618
|
0.00001
|
|
NM_032043.3(BRIP1):c.2776G>A (p.Ala926Thr)
|
rs1003917080
|
0.00001
|
|
NM_032043.3(BRIP1):c.2788T>C (p.Ser930Pro)
|
rs1384396768
|
0.00001
|
|
NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val)
|
rs863224801
|
0.00001
|
|
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser)
|
rs778916092
|
0.00001
|
|
NM_032043.3(BRIP1):c.2802T>G (p.Phe934Leu)
|
rs1259968679
|
0.00001
|
|
NM_032043.3(BRIP1):c.2816C>G (p.Ala939Gly)
|
rs756490117
|
0.00001
|
|
NM_032043.3(BRIP1):c.281A>G (p.Asp94Gly)
|
rs529201896
|
0.00001
|
|
NM_032043.3(BRIP1):c.2833G>C (p.Glu945Gln)
|
rs863224802
|
0.00001
|
|
NM_032043.3(BRIP1):c.2867C>T (p.Ser956Leu)
|
rs761639530
|
0.00001
|
|
NM_032043.3(BRIP1):c.2900A>G (p.Glu967Gly)
|
rs1176224216
|
0.00001
|
|
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu)
|
rs587782679
|
0.00001
|
|
NM_032043.3(BRIP1):c.2905+3A>G
|
rs1555573247
|
0.00001
|
|
NM_032043.3(BRIP1):c.2906-1G>A
|
rs773639563
|
0.00001
|
|
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile)
|
rs786203224
|
0.00001
|
|
NM_032043.3(BRIP1):c.2930C>T (p.Ala977Val)
|
rs770352467
|
0.00001
|
|
NM_032043.3(BRIP1):c.2935A>G (p.Lys979Glu)
|
rs730881627
|
0.00001
|
|
NM_032043.3(BRIP1):c.293A>G (p.Asn98Ser)
|
rs781121675
|
0.00001
|
|
NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn)
|
rs587781417
|
0.00001
|
|
NM_032043.3(BRIP1):c.2957C>G (p.Ser986Cys)
|
rs182087528
|
0.00001
|
|
NM_032043.3(BRIP1):c.2979C>G (p.Phe993Leu)
|
rs1060501756
|
0.00001
|
|
NM_032043.3(BRIP1):c.2995A>G (p.Arg999Gly)
|
rs2061323811
|
0.00001
|
|
NM_032043.3(BRIP1):c.29T>C (p.Ile10Thr)
|
rs786203418
|
0.00001
|
|
NM_032043.3(BRIP1):c.3037A>G (p.Thr1013Ala)
|
rs1278002478
|
0.00001
|
|
NM_032043.3(BRIP1):c.3038C>T (p.Thr1013Ile)
|
rs1372474933
|
0.00001
|
|
NM_032043.3(BRIP1):c.3043A>G (p.Lys1015Glu)
|
rs769692303
|
0.00001
|
|
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)
|
rs747907706
|
0.00001
|
|
NM_032043.3(BRIP1):c.3058A>G (p.Thr1020Ala)
|
rs1064793073
|
0.00001
|
|
NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg)
|
rs147119272
|
0.00001
|
|
NM_032043.3(BRIP1):c.3071G>T (p.Gly1024Val)
|
rs587781744
|
0.00001
|
|
NM_032043.3(BRIP1):c.3083A>T (p.Asn1028Ile)
|
rs1060501762
|
0.00001
|
|
NM_032043.3(BRIP1):c.3101C>T (p.Pro1034Leu)
|
rs1199923024
|
0.00001
|
|
NM_032043.3(BRIP1):c.3122T>C (p.Met1041Thr)
|
rs761225576
|
0.00001
|
|
NM_032043.3(BRIP1):c.3140T>C (p.Leu1047Ser)
|
rs786203344
|
0.00001
|
|
NM_032043.3(BRIP1):c.3154A>G (p.Lys1052Glu)
|
rs1285783476
|
0.00001
|
|
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile)
|
rs149016505
|
0.00001
|
|
NM_032043.3(BRIP1):c.3187T>C (p.Ser1063Pro)
|
rs2061317060
|
0.00001
|
|
NM_032043.3(BRIP1):c.3197C>T (p.Ser1066Leu)
|
rs1567728809
|
0.00001
|
|
NM_032043.3(BRIP1):c.3199T>A (p.Cys1067Ser)
|
rs878855153
|
0.00001
|
|
NM_032043.3(BRIP1):c.320A>G (p.His107Arg)
|
rs876659809
|
0.00001
|
|
NM_032043.3(BRIP1):c.3215C>T (p.Thr1072Ile)
|
rs786204068
|
0.00001
|
|
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr)
|
rs150813402
|
0.00001
|
|
NM_032043.3(BRIP1):c.3238G>A (p.Asp1080Asn)
|
rs786204230
|
0.00001
|
|
NM_032043.3(BRIP1):c.3260A>G (p.Asn1087Ser)
|
rs786202024
|
0.00001
|
|
NM_032043.3(BRIP1):c.3262C>T (p.His1088Tyr)
|
rs878855154
|
0.00001
|
|
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser)
|
rs587782734
|
0.00001
|
|
NM_032043.3(BRIP1):c.3272A>G (p.His1091Arg)
|
rs776129117
|
0.00001
|
|
NM_032043.3(BRIP1):c.3273T>G (p.His1091Gln)
|
rs1281827397
|
0.00001
|
|
NM_032043.3(BRIP1):c.3274C>T (p.Pro1092Ser)
|
rs768065626
|
0.00001
|
|
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)
|
rs587780830
|
0.00001
|
|
NM_032043.3(BRIP1):c.328_333dup (p.Tyr110_Pro111dup)
|
rs1423363607
|
0.00001
|
|
NM_032043.3(BRIP1):c.3290A>C (p.Glu1097Ala)
|
rs876658746
|
0.00001
|
|
NM_032043.3(BRIP1):c.3308T>A (p.Ile1103Asn)
|
rs781102464
|
0.00001
|
|
NM_032043.3(BRIP1):c.3326G>A (p.Ser1109Asn)
|
rs2061311430
|
0.00001
|
|
NM_032043.3(BRIP1):c.3388A>G (p.Ile1130Val)
|
rs786202549
|
0.00001
|
|
NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile)
|
rs778480809
|
0.00001
|
|
NM_032043.3(BRIP1):c.3441T>G (p.Asn1147Lys)
|
rs1603275034
|
0.00001
|
|
NM_032043.3(BRIP1):c.3448G>C (p.Ala1150Pro)
|
rs757363615
|
0.00001
|
|
NM_032043.3(BRIP1):c.3460A>G (p.Arg1154Gly)
|
rs769359514
|
0.00001
|
|
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)
|
rs45603843
|
0.00001
|
|
NM_032043.3(BRIP1):c.3492C>A (p.Cys1164Ter)
|
rs2061304701
|
0.00001
|
|
NM_032043.3(BRIP1):c.3493A>C (p.Ile1165Leu)
|
rs771889454
|
0.00001
|
|
NM_032043.3(BRIP1):c.3499G>A (p.Ala1167Thr)
|
rs1555572570
|
0.00001
|
|
NM_032043.3(BRIP1):c.3505G>T (p.Asp1169Tyr)
|
rs587782029
|
0.00001
|
|
NM_032043.3(BRIP1):c.3507C>A (p.Asp1169Glu)
|
rs375741316
|
0.00001
|
|
NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs)
|
rs777367075
|
0.00001
|
|
NM_032043.3(BRIP1):c.3529A>C (p.Lys1177Gln)
|
rs756313788
|
0.00001
|
|
NM_032043.3(BRIP1):c.3533A>T (p.Glu1178Val)
|
rs752850661
|
0.00001
|
|
NM_032043.3(BRIP1):c.3556A>G (p.Lys1186Glu)
|
rs766709841
|
0.00001
|
|
NM_032043.3(BRIP1):c.3578C>T (p.Thr1193Ile)
|
rs1368343911
|
0.00001
|
|
NM_032043.3(BRIP1):c.3605A>G (p.Glu1202Gly)
|
rs776010326
|
0.00001
|
|
NM_032043.3(BRIP1):c.361A>G (p.Thr121Ala)
|
rs1567874478
|
0.00001
|
|
NM_032043.3(BRIP1):c.3620A>T (p.Asp1207Val)
|
rs139539831
|
0.00001
|
|
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met)
|
rs1046992728
|
0.00001
|
|
NM_032043.3(BRIP1):c.3699C>A (p.Asn1233Lys)
|
rs1060501734
|
0.00001
|
|
NM_032043.3(BRIP1):c.3727G>T (p.Gly1243Cys)
|
rs587780250
|
0.00001
|
|
NM_032043.3(BRIP1):c.3739G>A (p.Gly1247Ser)
|
rs1196057129
|
0.00001
|
|
NM_032043.3(BRIP1):c.3743T>G (p.Phe1248Cys)
|
rs763579793
|
0.00001
|
|
NM_032043.3(BRIP1):c.379G>A (p.Asp127Asn)
|
rs1311206718
|
0.00001
|
|
NM_032043.3(BRIP1):c.448G>A (p.Glu150Lys)
|
rs762701532
|
0.00001
|
|
NM_032043.3(BRIP1):c.509T>G (p.Ile170Ser)
|
rs1265322103
|
0.00001
|
|
NM_032043.3(BRIP1):c.53C>T (p.Pro18Leu)
|
rs1415589484
|
0.00001
|
|
NM_032043.3(BRIP1):c.569G>A (p.Gly190Glu)
|
rs756269682
|
0.00001
|
|
NM_032043.3(BRIP1):c.56A>G (p.Tyr19Cys)
|
rs876660880
|
0.00001
|
|
NM_032043.3(BRIP1):c.627+5G>A
|
rs745727200
|
0.00001
|
|
NM_032043.3(BRIP1):c.641G>C (p.Cys214Ser)
|
rs779409059
|
0.00001
|
|
NM_032043.3(BRIP1):c.655T>C (p.Cys219Arg)
|
rs730881630
|
0.00001
|
|
NM_032043.3(BRIP1):c.668A>G (p.Gln223Arg)
|
rs786203708
|
0.00001
|
|
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu)
|
rs45459799
|
0.00001
|
|
NM_032043.3(BRIP1):c.68C>T (p.Pro23Leu)
|
rs1292425366
|
0.00001
|
|
NM_032043.3(BRIP1):c.712A>C (p.Thr238Pro)
|
rs1490001091
|
0.00001
|
|
NM_032043.3(BRIP1):c.721T>C (p.Ser241Pro)
|
rs771542690
|
0.00001
|
|
NM_032043.3(BRIP1):c.752G>A (p.Arg251His)
|
rs780834054
|
0.00001
|
|
NM_032043.3(BRIP1):c.773A>G (p.Gln258Arg)
|
rs1567838078
|
0.00001
|
|
NM_032043.3(BRIP1):c.774G>C (p.Gln258His)
|
rs1198536492
|
0.00001
|
|
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe)
|
rs1060501776
|
0.00001
|
|
NM_032043.3(BRIP1):c.799G>A (p.Ala267Thr)
|
rs865910081
|
0.00001
|
|
NM_032043.3(BRIP1):c.808G>T (p.Gly270Trp)
|
rs1401241698
|
0.00001
|
|
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val)
|
rs587781425
|
0.00001
|
|
NM_032043.3(BRIP1):c.845C>G (p.Thr282Ser)
|
rs45624635
|
0.00001
|
|
NM_032043.3(BRIP1):c.869G>A (p.Gly290Asp)
|
rs148556781
|
0.00001
|
|
NM_032043.3(BRIP1):c.878A>G (p.Asn293Ser)
|
rs746599076
|
0.00001
|
|
NM_032043.3(BRIP1):c.932A>G (p.Tyr311Cys)
|
rs587782731
|
0.00001
|
|
NM_032043.3(BRIP1):c.963T>A (p.Asp321Glu)
|
rs1555607779
|
0.00001
|
|
NM_032043.3(BRIP1):c.97C>T (p.Leu33Phe)
|
rs772319724
|
0.00001
|
|
NM_032043.3(BRIP1):c.991A>T (p.Met331Leu)
|
rs1380876424
|
0.00001
|
|
NM_032444.4(SLX4):c.1034C>A (p.Thr345Asn)
|
rs751770341
|
0.00001
|
|
NM_032444.4(SLX4):c.1054C>T (p.His352Tyr)
|
rs1247465227
|
0.00001
|
|
NM_032444.4(SLX4):c.1109C>T (p.Ala370Val)
|
rs189224493
|
0.00001
|
|
NM_032444.4(SLX4):c.111C>A (p.Ser37Arg)
|
rs188729744
|
0.00001
|
|
NM_032444.4(SLX4):c.112C>T (p.Leu38Phe)
|
rs141167501
|
0.00001
|
|
NM_032444.4(SLX4):c.1139G>A (p.Gly380Asp)
|
rs1052888437
|
0.00001
|
|
NM_032444.4(SLX4):c.1162A>T (p.Ser388Cys)
|
rs199774640
|
0.00001
|
|
NM_032444.4(SLX4):c.1163+5G>A
|
rs762454252
|
0.00001
|
|
NM_032444.4(SLX4):c.1178G>A (p.Ser393Asn)
|
rs112301713
|
0.00001
|
|
NM_032444.4(SLX4):c.1189A>G (p.Lys397Glu)
|
rs202204661
|
0.00001
|
|
NM_032444.4(SLX4):c.1285C>T (p.Arg429Trp)
|
rs532023958
|
0.00001
|
|
NM_032444.4(SLX4):c.1301C>T (p.Pro434Leu)
|
rs763337738
|
0.00001
|
|
NM_032444.4(SLX4):c.13G>A (p.Val5Met)
|
rs750091754
|
0.00001
|
|
NM_032444.4(SLX4):c.1429G>C (p.Glu477Gln)
|
rs748957904
|
0.00001
|
|
NM_032444.4(SLX4):c.1456C>T (p.Arg486Cys)
|
rs1483311055
|
0.00001
|
|
NM_032444.4(SLX4):c.1457G>A (p.Arg486His)
|
rs558236399
|
0.00001
|
|
NM_032444.4(SLX4):c.1462G>A (p.Ala488Thr)
|
rs2040677379
|
0.00001
|
|
NM_032444.4(SLX4):c.1490T>C (p.Leu497Ser)
|
rs200337039
|
0.00001
|
|
NM_032444.4(SLX4):c.1493C>T (p.Ser498Phe)
|
rs1326014010
|
0.00001
|
|
NM_032444.4(SLX4):c.1537T>C (p.Trp513Arg)
|
rs769495113
|
0.00001
|
|
NM_032444.4(SLX4):c.1555T>C (p.Cys519Arg)
|
rs746419738
|
0.00001
|
|
NM_032444.4(SLX4):c.1597G>C (p.Gly533Arg)
|
rs200437227
|
0.00001
|
|
NM_032444.4(SLX4):c.1603G>A (p.Ala535Thr)
|
rs776394340
|
0.00001
|
|
NM_032444.4(SLX4):c.1630G>A (p.Asp544Asn)
|
rs773395054
|
0.00001
|
|
NM_032444.4(SLX4):c.1639A>C (p.Thr547Pro)
|
rs781416857
|
0.00001
|
|
NM_032444.4(SLX4):c.1673G>A (p.Arg558Gln)
|
rs773558127
|
0.00001
|
|
NM_032444.4(SLX4):c.1691T>C (p.Met564Thr)
|
rs1315121473
|
0.00001
|
|
NM_032444.4(SLX4):c.1714G>A (p.Val572Met)
|
rs745678074
|
0.00001
|
|
NM_032444.4(SLX4):c.1715T>A (p.Val572Glu)
|
rs551757021
|
0.00001
|
|
NM_032444.4(SLX4):c.1739G>A (p.Ser580Asn)
|
rs755653940
|
0.00001
|
|
NM_032444.4(SLX4):c.1745G>A (p.Arg582Gln)
|
rs755044096
|
0.00001
|
|
NM_032444.4(SLX4):c.1753C>T (p.Pro585Ser)
|
rs2040658116
|
0.00001
|
|
NM_032444.4(SLX4):c.1765G>A (p.Gly589Ser)
|
rs553750741
|
0.00001
|
|
NM_032444.4(SLX4):c.1795G>T (p.Gly599Cys)
|
rs770845528
|
0.00001
|
|
NM_032444.4(SLX4):c.1805C>T (p.Pro602Leu)
|
rs956483964
|
0.00001
|
|
NM_032444.4(SLX4):c.1810G>A (p.Ala604Thr)
|
rs2040655815
|
0.00001
|
|
NM_032444.4(SLX4):c.1811C>G (p.Ala604Gly)
|
rs953252183
|
0.00001
|
|
NM_032444.4(SLX4):c.1841A>T (p.Asp614Val)
|
rs966027727
|
0.00001
|
|
NM_032444.4(SLX4):c.1856C>T (p.Ala619Val)
|
rs371325486
|
0.00001
|
|
NM_032444.4(SLX4):c.1910C>T (p.Ser637Leu)
|
rs200475686
|
0.00001
|
|
NM_032444.4(SLX4):c.1919C>A (p.Thr640Asn)
|
rs1340467468
|
0.00001
|
|
NM_032444.4(SLX4):c.1933G>A (p.Val645Met)
|
rs769084265
|
0.00001
|
|
NM_032444.4(SLX4):c.194A>G (p.His65Arg)
|
rs1003415542
|
0.00001
|
|
NM_032444.4(SLX4):c.1952C>T (p.Pro651Leu)
|
rs1490630727
|
0.00001
|
|
NM_032444.4(SLX4):c.1976C>T (p.Ser659Leu)
|
rs372150541
|
0.00001
|
|
NM_032444.4(SLX4):c.199A>G (p.Ile67Val)
|
rs751802145
|
0.00001
|
|
NM_032444.4(SLX4):c.2020C>T (p.Leu674Phe)
|
rs777279668
|
0.00001
|
|
NM_032444.4(SLX4):c.2021T>G (p.Leu674Arg)
|
rs889646690
|
0.00001
|
|
NM_032444.4(SLX4):c.2038G>C (p.Asp680His)
|
rs1041739465
|
0.00001
|
|
NM_032444.4(SLX4):c.2090C>T (p.Thr697Met)
|
rs554989399
|
0.00001
|
|
NM_032444.4(SLX4):c.2114C>T (p.Ala705Val)
|
rs1262656321
|
0.00001
|
|
NM_032444.4(SLX4):c.2132A>T (p.Tyr711Phe)
|
rs768477511
|
0.00001
|
|
NM_032444.4(SLX4):c.2153T>G (p.Ile718Ser)
|
rs770015489
|
0.00001
|
|
NM_032444.4(SLX4):c.2227G>A (p.Val743Met)
|
rs747832147
|
0.00001
|
|
NM_032444.4(SLX4):c.2236G>A (p.Glu746Lys)
|
rs758785487
|
0.00001
|
|
NM_032444.4(SLX4):c.2242G>A (p.Ala748Thr)
|
rs373178144
|
0.00001
|
|
NM_032444.4(SLX4):c.2245C>T (p.Arg749Cys)
|
rs753926402
|
0.00001
|
|
NM_032444.4(SLX4):c.2269A>G (p.Thr757Ala)
|
rs1567171612
|
0.00001
|
|
NM_032444.4(SLX4):c.2273C>T (p.Ala758Val)
|
rs747563780
|
0.00001
|
|
NM_032444.4(SLX4):c.2274G>A (p.Ala758=)
|
rs780854919
|
0.00001
|
|
NM_032444.4(SLX4):c.2334C>T (p.Gly778=)
|
rs1235572029
|
0.00001
|
|
NM_032444.4(SLX4):c.2360A>G (p.Glu787Gly)
|
rs1596522964
|
0.00001
|
|
NM_032444.4(SLX4):c.2389G>A (p.Gly797Ser)
|
rs373595621
|
0.00001
|
|
NM_032444.4(SLX4):c.2425G>A (p.Glu809Lys)
|
rs546657275
|
0.00001
|
|
NM_032444.4(SLX4):c.2432G>A (p.Arg811Lys)
|
rs778547872
|
0.00001
|
|
NM_032444.4(SLX4):c.2438A>G (p.Glu813Gly)
|
rs748712996
|
0.00001
|
|
NM_032444.4(SLX4):c.2464A>G (p.Met822Val)
|
rs779985555
|
0.00001
|
|
NM_032444.4(SLX4):c.247G>A (p.Gly83Ser)
|
rs200319106
|
0.00001
|
|
NM_032444.4(SLX4):c.2489C>T (p.Ala830Val)
|
rs757069261
|
0.00001
|
|
NM_032444.4(SLX4):c.2499G>T (p.Leu833Phe)
|
rs764020001
|
0.00001
|
|
NM_032444.4(SLX4):c.2513A>G (p.Asp838Gly)
|
rs1060501794
|
0.00001
|
|
NM_032444.4(SLX4):c.2518G>A (p.Glu840Lys)
|
rs759271070
|
0.00001
|
|
NM_032444.4(SLX4):c.2557G>C (p.Glu853Gln)
|
rs1465800756
|
0.00001
|
|
NM_032444.4(SLX4):c.2579C>T (p.Thr860Ile)
|
rs747515305
|
0.00001
|
|
NM_032444.4(SLX4):c.2606G>C (p.Arg869Thr)
|
rs779039237
|
0.00001
|
|
NM_032444.4(SLX4):c.2621G>A (p.Gly874Asp)
|
rs150402424
|
0.00001
|
|
NM_032444.4(SLX4):c.2629G>A (p.Ala877Thr)
|
rs761296000
|
0.00001
|
|
NM_032444.4(SLX4):c.2684A>G (p.Gln895Arg)
|
rs779708181
|
0.00001
|
|
NM_032444.4(SLX4):c.2776T>C (p.Cys926Arg)
|
rs201703364
|
0.00001
|
|
NM_032444.4(SLX4):c.2779G>A (p.Ala927Thr)
|
rs767916829
|
0.00001
|
|
NM_032444.4(SLX4):c.2828C>A (p.Ala943Asp)
|
rs745380963
|
0.00001
|
|
NM_032444.4(SLX4):c.2892C>G (p.Asp964Glu)
|
rs1311904834
|
0.00001
|
|
NM_032444.4(SLX4):c.2896C>G (p.Gln966Glu)
|
rs770456496
|
0.00001
|
|
NM_032444.4(SLX4):c.2902G>C (p.Glu968Gln)
|
rs777514343
|
0.00001
|
|
NM_032444.4(SLX4):c.2928C>G (p.His976Gln)
|
rs1054086781
|
0.00001
|
|
NM_032444.4(SLX4):c.3004A>G (p.Ser1002Gly)
|
rs1047744954
|
0.00001
|
|
NM_032444.4(SLX4):c.3041G>A (p.Arg1014Lys)
|
rs756448789
|
0.00001
|
|
NM_032444.4(SLX4):c.3122A>T (p.Gln1041Leu)
|
rs1384033342
|
0.00001
|
|
NM_032444.4(SLX4):c.3124G>C (p.Gly1042Arg)
|
rs750349545
|
0.00001
|
|
NM_032444.4(SLX4):c.3139G>A (p.Gly1047Arg)
|
rs561815282
|
0.00001
|
|
NM_032444.4(SLX4):c.3188G>A (p.Gly1063Asp)
|
rs750149671
|
0.00001
|
|
NM_032444.4(SLX4):c.3269C>T (p.Thr1090Met)
|
rs780143733
|
0.00001
|
|
NM_032444.4(SLX4):c.3307C>T (p.Arg1103Cys)
|
rs200708159
|
0.00001
|
|
NM_032444.4(SLX4):c.3308G>A (p.Arg1103His)
|
rs201618094
|
0.00001
|
|
NM_032444.4(SLX4):c.3370A>G (p.Ile1124Val)
|
rs766081510
|
0.00001
|
|
NM_032444.4(SLX4):c.3371T>C (p.Ile1124Thr)
|
rs2040567955
|
0.00001
|
|
NM_032444.4(SLX4):c.3410G>C (p.Arg1137Thr)
|
rs1391353238
|
0.00001
|
|
NM_032444.4(SLX4):c.3470C>T (p.Ser1157Leu)
|
rs769688259
|
0.00001
|
|
NM_032444.4(SLX4):c.3566G>A (p.Cys1189Tyr)
|
rs766648339
|
0.00001
|
|
NM_032444.4(SLX4):c.3578C>T (p.Ser1193Phe)
|
rs368695839
|
0.00001
|
|
NM_032444.4(SLX4):c.3605A>G (p.Glu1202Gly)
|
rs1414947508
|
0.00001
|
|
NM_032444.4(SLX4):c.3631G>A (p.Glu1211Lys)
|
rs202032197
|
0.00001
|
|
NM_032444.4(SLX4):c.3650A>G (p.Glu1217Gly)
|
rs761680381
|
0.00001
|
|
NM_032444.4(SLX4):c.3673A>G (p.Asn1225Asp)
|
rs878855161
|
0.00001
|
|
NM_032444.4(SLX4):c.3676_3678dup (p.Arg1226dup)
|
rs1567169873
|
0.00001
|
|
NM_032444.4(SLX4):c.3683C>A (p.Ser1228Tyr)
|
rs755523528
|
0.00001
|
|
NM_032444.4(SLX4):c.3706T>C (p.Trp1236Arg)
|
rs760493361
|
0.00001
|
|
NM_032444.4(SLX4):c.3721C>T (p.Arg1241Cys)
|
rs771835799
|
0.00001
|
|
NM_032444.4(SLX4):c.3739G>A (p.Glu1247Lys)
|
rs978074181
|
0.00001
|
|
NM_032444.4(SLX4):c.3761C>T (p.Ser1254Leu)
|
rs750580998
|
0.00001
|
|
NM_032444.4(SLX4):c.37T>C (p.Tyr13His)
|
rs2040817612
|
0.00001
|
|
NM_032444.4(SLX4):c.3800G>A (p.Arg1267His)
|
rs775711964
|
0.00001
|
|
NM_032444.4(SLX4):c.3806G>C (p.Cys1269Ser)
|
rs779426291
|
0.00001
|
|
NM_032444.4(SLX4):c.3835A>G (p.Arg1279Gly)
|
rs1252550783
|
0.00001
|
|
NM_032444.4(SLX4):c.3894C>G (p.Asn1298Lys)
|
rs1260811996
|
0.00001
|
|
NM_032444.4(SLX4):c.3907G>A (p.Glu1303Lys)
|
rs759828401
|
0.00001
|
|
NM_032444.4(SLX4):c.3926C>T (p.Ser1309Phe)
|
rs556682517
|
0.00001
|
|
NM_032444.4(SLX4):c.3931A>G (p.Ile1311Val)
|
rs1196234101
|
0.00001
|
|
NM_032444.4(SLX4):c.4019A>G (p.His1340Arg)
|
rs776760390
|
0.00001
|
|
NM_032444.4(SLX4):c.4030T>C (p.Ser1344Pro)
|
rs745595506
|
0.00001
|
|
NM_032444.4(SLX4):c.4055C>T (p.Pro1352Leu)
|
rs144720266
|
0.00001
|
|
NM_032444.4(SLX4):c.4066C>G (p.Pro1356Ala)
|
rs532756081
|
0.00001
|
|
NM_032444.4(SLX4):c.4078C>T (p.His1360Tyr)
|
rs1282208383
|
0.00001
|
|
NM_032444.4(SLX4):c.4079A>T (p.His1360Leu)
|
rs1060501793
|
0.00001
|
|
NM_032444.4(SLX4):c.4096C>T (p.Arg1366Cys)
|
rs368434737
|
0.00001
|
|
NM_032444.4(SLX4):c.4130C>T (p.Ser1377Leu)
|
rs770241338
|
0.00001
|
|
NM_032444.4(SLX4):c.4240C>G (p.Pro1414Ala)
|
rs2040548472
|
0.00001
|
|
NM_032444.4(SLX4):c.424G>C (p.Gly142Arg)
|
rs773117024
|
0.00001
|
|
NM_032444.4(SLX4):c.4334G>A (p.Arg1445Gln)
|
rs756660911
|
0.00001
|
|
NM_032444.4(SLX4):c.4339G>A (p.Gly1447Ser)
|
rs371090786
|
0.00001
|
|
NM_032444.4(SLX4):c.4397A>G (p.Asp1466Gly)
|
rs753668854
|
0.00001
|
|
NM_032444.4(SLX4):c.4415T>C (p.Leu1472Pro)
|
rs938457122
|
0.00001
|
|
NM_032444.4(SLX4):c.4483G>A (p.Ala1495Thr)
|
rs762565535
|
0.00001
|
|
NM_032444.4(SLX4):c.4496G>A (p.Gly1499Glu)
|
rs1231411840
|
0.00001
|
|
NM_032444.4(SLX4):c.4546G>A (p.Gly1516Arg)
|
rs775915651
|
0.00001
|
|
NM_032444.4(SLX4):c.4552G>A (p.Glu1518Lys)
|
rs760096901
|
0.00001
|
|
NM_032444.4(SLX4):c.4597G>A (p.Ala1533Thr)
|
rs200377191
|
0.00001
|
|
NM_032444.4(SLX4):c.4607C>T (p.Ala1536Val)
|
rs759939338
|
0.00001
|
|
NM_032444.4(SLX4):c.460C>T (p.Arg154Trp)
|
rs141639275
|
0.00001
|
|
NM_032444.4(SLX4):c.4618G>A (p.Glu1540Lys)
|
rs769950582
|
0.00001
|
|
NM_032444.4(SLX4):c.4684C>T (p.Pro1562Ser)
|
rs893507870
|
0.00001
|
|
NM_032444.4(SLX4):c.4691C>G (p.Pro1564Arg)
|
rs1478218856
|
0.00001
|
|
NM_032444.4(SLX4):c.4700C>T (p.Ser1567Phe)
|
rs755754734
|
0.00001
|
|
NM_032444.4(SLX4):c.4714C>G (p.Pro1572Ala)
|
rs753904877
|
0.00001
|
|
NM_032444.4(SLX4):c.4739+6C>T
|
rs770758859
|
0.00001
|
|
NM_032444.4(SLX4):c.4768C>G (p.Gln1590Glu)
|
rs148228302
|
0.00001
|
|
NM_032444.4(SLX4):c.4773G>A (p.Met1591Ile)
|
rs757589951
|
0.00001
|
|
NM_032444.4(SLX4):c.4780A>C (p.Lys1594Gln)
|
rs1567166631
|
0.00001
|
|
NM_032444.4(SLX4):c.4822T>G (p.Ser1608Ala)
|
rs1480904013
|
0.00001
|
|
NM_032444.4(SLX4):c.4845G>C (p.Gln1615His)
|
rs988625732
|
0.00001
|
|
NM_032444.4(SLX4):c.4880A>G (p.Gln1627Arg)
|
rs1346015743
|
0.00001
|
|
NM_032444.4(SLX4):c.4882A>T (p.Thr1628Ser)
|
rs201688321
|
0.00001
|
|
NM_032444.4(SLX4):c.4888G>A (p.Ala1630Thr)
|
rs776578234
|
0.00001
|
|
NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe)
|
rs763539738
|
0.00001
|
|
NM_032444.4(SLX4):c.4898C>T (p.Thr1633Ile)
|
rs1173889397
|
0.00001
|
|
NM_032444.4(SLX4):c.4927G>T (p.Ala1643Ser)
|
rs145557355
|
0.00001
|
|
NM_032444.4(SLX4):c.4939G>A (p.Ala1647Thr)
|
rs2040464512
|
0.00001
|
|
NM_032444.4(SLX4):c.4972G>A (p.Gly1658Arg)
|
rs200507644
|
0.00001
|
|
NM_032444.4(SLX4):c.5056G>A (p.Ala1686Thr)
|
rs751219957
|
0.00001
|
|
NM_032444.4(SLX4):c.5081C>T (p.Ala1694Val)
|
rs761226343
|
0.00001
|
|
NM_032444.4(SLX4):c.5144G>A (p.Ser1715Asn)
|
rs754498907
|
0.00001
|
|
NM_032444.4(SLX4):c.5186A>G (p.Glu1729Gly)
|
rs1203040904
|
0.00001
|
|
NM_032444.4(SLX4):c.5189C>G (p.Ser1730Cys)
|
rs376960842
|
0.00001
|
|
NM_032444.4(SLX4):c.5223T>G (p.Ser1741Arg)
|
rs200262630
|
0.00001
|
|
NM_032444.4(SLX4):c.5278A>C (p.Ile1760Leu)
|
rs377648201
|
0.00001
|
|
NM_032444.4(SLX4):c.5304G>C (p.Gln1768His)
|
rs1555449297
|
0.00001
|
|
NM_032444.4(SLX4):c.5318A>G (p.Tyr1773Cys)
|
rs769567874
|
0.00001
|
|
NM_032444.4(SLX4):c.533G>T (p.Arg178Ile)
|
rs1216948562
|
0.00001
|
|
NM_032444.4(SLX4):c.5354T>C (p.Leu1785Pro)
|
rs562491450
|
0.00001
|
|
NM_032444.4(SLX4):c.5365G>A (p.Gly1789Ser)
|
rs374876624
|
0.00001
|
|
NM_032444.4(SLX4):c.5384G>A (p.Arg1795His)
|
rs926700658
|
0.00001
|
|
NM_032444.4(SLX4):c.5386A>G (p.Arg1796Gly)
|
rs770529698
|
0.00001
|
|
NM_032444.4(SLX4):c.5410C>T (p.His1804Tyr)
|
rs772332386
|
0.00001
|
|
NM_032444.4(SLX4):c.5413T>C (p.Cys1805Arg)
|
rs746191123
|
0.00001
|
|
NM_032444.4(SLX4):c.5497C>T (p.Arg1833Trp)
|
rs375100050
|
0.00001
|
|
NM_032444.4(SLX4):c.5498G>A (p.Arg1833Gln)
|
rs751456750
|
0.00001
|
|
NM_032444.4(SLX4):c.595A>G (p.Ser199Gly)
|
rs770098753
|
0.00001
|
|
NM_032444.4(SLX4):c.622T>A (p.Leu208Met)
|
rs1453789700
|
0.00001
|
|
NM_032444.4(SLX4):c.635G>A (p.Arg212Gln)
|
rs575953567
|
0.00001
|
|
NM_032444.4(SLX4):c.702G>C (p.Glu234Asp)
|
rs201161027
|
0.00001
|
|
NM_032444.4(SLX4):c.755G>A (p.Gly252Glu)
|
rs1060501795
|
0.00001
|
|
NM_032444.4(SLX4):c.799G>A (p.Ala267Thr)
|
rs755289589
|
0.00001
|
|
NM_032444.4(SLX4):c.842C>G (p.Ala281Gly)
|
rs1263321133
|
0.00001
|
|
NM_032444.4(SLX4):c.860G>T (p.Ser287Ile)
|
rs1264580208
|
0.00001
|
|
NM_032444.4(SLX4):c.862C>A (p.Leu288Met)
|
rs777370394
|
0.00001
|
|
NM_032444.4(SLX4):c.874G>A (p.Gly292Ser)
|
rs780402573
|
0.00001
|
|
NM_032444.4(SLX4):c.890A>G (p.Gln297Arg)
|
rs778643553
|
0.00001
|
|
NM_032444.4(SLX4):c.941A>G (p.His314Arg)
|
rs1274906202
|
0.00001
|
|
NM_032444.4(SLX4):c.973A>T (p.Thr325Ser)
|
rs181942292
|
0.00001
|
|
NM_032444.4(SLX4):c.983C>T (p.Pro328Leu)
|
rs760336082
|
0.00001
|
|
NM_032634.4(PIGO):c.1046C>T (p.Ser349Leu)
|
rs371657025
|
0.00001
|
|
NM_032634.4(PIGO):c.1049G>C (p.Gly350Ala)
|
rs368691880
|
0.00001
|
|
NM_032634.4(PIGO):c.1136A>C (p.His379Pro)
|
rs1285901155
|
0.00001
|
|
NM_032634.4(PIGO):c.113A>G (p.His38Arg)
|
rs993053284
|
0.00001
|
|
NM_032634.4(PIGO):c.1151C>T (p.Ala384Val)
|
rs745507962
|
0.00001
|
|
NM_032634.4(PIGO):c.1199T>C (p.Phe400Ser)
|
rs1322962283
|
0.00001
|
|
NM_032634.4(PIGO):c.1255G>A (p.Ala419Thr)
|
rs879658217
|
0.00001
|
|
NM_032634.4(PIGO):c.1256C>T (p.Ala419Val)
|
rs777439274
|
0.00001
|
|
NM_032634.4(PIGO):c.1283T>A (p.Leu428Gln)
|
rs182396158
|
0.00001
|
|
NM_032634.4(PIGO):c.1307G>A (p.Arg436Gln)
|
rs772960218
|
0.00001
|
|
NM_032634.4(PIGO):c.1321G>A (p.Glu441Lys)
|
rs148970282
|
0.00001
|
|
NM_032634.4(PIGO):c.1333C>T (p.Arg445Cys)
|
rs779260324
|
0.00001
|
|
NM_032634.4(PIGO):c.1348C>T (p.Arg450Cys)
|
rs756670230
|
0.00001
|
|
NM_032634.4(PIGO):c.1355C>T (p.Ala452Val)
|
rs767418527
|
0.00001
|
|
NM_032634.4(PIGO):c.1363A>G (p.Thr455Ala)
|
rs766309374
|
0.00001
|
|
NM_032634.4(PIGO):c.1367C>T (p.Ala456Val)
|
rs202109643
|
0.00001
|
|
NM_032634.4(PIGO):c.1369C>G (p.Leu457Val)
|
rs769460289
|
0.00001
|
|
NM_032634.4(PIGO):c.1441C>T (p.Pro481Ser)
|
rs146556990
|
0.00001
|
|
NM_032634.4(PIGO):c.1526A>T (p.Asp509Val)
|
rs1307463691
|
0.00001
|
|
NM_032634.4(PIGO):c.1549G>A (p.Ala517Thr)
|
rs781222643
|
0.00001
|
|
NM_032634.4(PIGO):c.1607A>G (p.Lys536Arg)
|
rs559748160
|
0.00001
|
|
NM_032634.4(PIGO):c.1612C>G (p.Pro538Ala)
|
rs763462649
|
0.00001
|
|
NM_032634.4(PIGO):c.1618G>C (p.Ala540Pro)
|
rs1404216766
|
0.00001
|
|
NM_032634.4(PIGO):c.1622C>T (p.Thr541Ile)
|
rs748438924
|
0.00001
|
|
NM_032634.4(PIGO):c.1708G>A (p.Ala570Thr)
|
rs767046819
|
0.00001
|
|
NM_032634.4(PIGO):c.1718C>T (p.Thr573Ile)
|
rs185911232
|
0.00001
|
|
NM_032634.4(PIGO):c.1720C>T (p.Pro574Ser)
|
rs765632190
|
0.00001
|
|
NM_032634.4(PIGO):c.1904C>G (p.Ala635Gly)
|
rs1829445064
|
0.00001
|
|
NM_032634.4(PIGO):c.1916A>G (p.His639Arg)
|
rs1829444705
|
0.00001
|
|
NM_032634.4(PIGO):c.1945C>T (p.His649Tyr)
|
rs759688557
|
0.00001
|
|
NM_032634.4(PIGO):c.1955C>A (p.Pro652His)
|
rs375182208
|
0.00001
|
|
NM_032634.4(PIGO):c.2030T>C (p.Leu677Pro)
|
rs1587164392
|
0.00001
|
|
NM_032634.4(PIGO):c.2039T>C (p.Leu680Pro)
|
rs766592273
|
0.00001
|
|
NM_032634.4(PIGO):c.2050G>A (p.Val684Met)
|
rs761745437
|
0.00001
|
|
NM_032634.4(PIGO):c.2065C>T (p.Arg689Cys)
|
rs775041042
|
0.00001
|
|
NM_032634.4(PIGO):c.2069G>A (p.Arg690His)
|
rs778578535
|
0.00001
|
|
NM_032634.4(PIGO):c.206G>A (p.Arg69Gln)
|
rs1479047885
|
0.00001
|
|
NM_032634.4(PIGO):c.2080C>A (p.Leu694Ile)
|
rs1489661507
|
0.00001
|
|
NM_032634.4(PIGO):c.2113C>T (p.Arg705Cys)
|
rs551682667
|
0.00001
|
|
NM_032634.4(PIGO):c.2114G>A (p.Arg705His)
|
rs761836966
|
0.00001
|
|
NM_032634.4(PIGO):c.2119G>A (p.Gly707Arg)
|
rs1013394440
|
0.00001
|
|
NM_032634.4(PIGO):c.2168C>T (p.Ser723Leu)
|
rs1554672556
|
0.00001
|
|
NM_032634.4(PIGO):c.217G>T (p.Val73Leu)
|
rs371057978
|
0.00001
|
|
NM_032634.4(PIGO):c.2233C>T (p.Arg745Trp)
|
rs762428877
|
0.00001
|
|
NM_032634.4(PIGO):c.2234G>A (p.Arg745Gln)
|
rs371317684
|
0.00001
|
|
NM_032634.4(PIGO):c.2285C>T (p.Pro762Leu)
|
rs767539954
|
0.00001
|
|
NM_032634.4(PIGO):c.2347T>C (p.Phe783Leu)
|
rs1314015092
|
0.00001
|
|
NM_032634.4(PIGO):c.2355C>T (p.Gly785=)
|
rs766309673
|
0.00001
|
|
NM_032634.4(PIGO):c.2360C>G (p.Pro787Arg)
|
rs1396329353
|
0.00001
|
|
NM_032634.4(PIGO):c.2405G>A (p.Arg802Gln)
|
rs771347652
|
0.00001
|
|
NM_032634.4(PIGO):c.2411T>G (p.Met804Arg)
|
rs763204004
|
0.00001
|
|
NM_032634.4(PIGO):c.2435T>C (p.Leu812Ser)
|
rs746967719
|
0.00001
|
|
NM_032634.4(PIGO):c.2458C>T (p.Pro820Ser)
|
rs1413004957
|
0.00001
|
|
NM_032634.4(PIGO):c.2474C>T (p.Ala825Val)
|
rs750185627
|
0.00001
|
|
NM_032634.4(PIGO):c.2485G>A (p.Gly829Arg)
|
rs149950408
|
0.00001
|
|
NM_032634.4(PIGO):c.2497T>G (p.Ser833Ala)
|
rs931445470
|
0.00001
|
|
NM_032634.4(PIGO):c.2555C>T (p.Ala852Val)
|
rs768909165
|
0.00001
|
|
NM_032634.4(PIGO):c.2584C>G (p.Leu862Val)
|
rs377645902
|
0.00001
|
|
NM_032634.4(PIGO):c.2612A>C (p.His871Pro)
|
rs909488930
|
0.00001
|
|
NM_032634.4(PIGO):c.2663C>A (p.Pro888Gln)
|
rs1829377572
|
0.00001
|
|
NM_032634.4(PIGO):c.2696C>G (p.Ala899Gly)
|
rs774193694
|
0.00001
|
|
NM_032634.4(PIGO):c.2699C>T (p.Thr900Ile)
|
rs770850061
|
0.00001
|
|
NM_032634.4(PIGO):c.272C>G (p.Pro91Arg)
|
rs995820474
|
0.00001
|
|
NM_032634.4(PIGO):c.2747A>G (p.His916Arg)
|
rs1331077224
|
0.00001
|
|
NM_032634.4(PIGO):c.2764G>A (p.Val922Met)
|
rs756455405
|
0.00001
|
|
NM_032634.4(PIGO):c.2767G>A (p.Gly923Arg)
|
rs1285786753
|
0.00001
|
|
NM_032634.4(PIGO):c.2773C>T (p.Pro925Ser)
|
rs767750872
|
0.00001
|
|
NM_032634.4(PIGO):c.2792G>A (p.Cys931Tyr)
|
rs891303491
|
0.00001
|
|
NM_032634.4(PIGO):c.2803C>T (p.Pro935Ser)
|
rs1160072970
|
0.00001
|
|
NM_032634.4(PIGO):c.2817G>A (p.Val939=)
|
rs371834214
|
0.00001
|
|
NM_032634.4(PIGO):c.2852C>T (p.Ala951Val)
|
rs761635526
|
0.00001
|
|
NM_032634.4(PIGO):c.2855-3C>T
|
rs746026821
|
0.00001
|
|
NM_032634.4(PIGO):c.2891G>A (p.Cys964Tyr)
|
rs148648652
|
0.00001
|
|
NM_032634.4(PIGO):c.2995C>T (p.Arg999Trp)
|
rs61746764
|
0.00001
|
|
NM_032634.4(PIGO):c.2996G>A (p.Arg999Gln)
|
rs1160814644
|
0.00001
|
|
NM_032634.4(PIGO):c.3014T>C (p.Phe1005Ser)
|
rs1829344388
|
0.00001
|
|
NM_032634.4(PIGO):c.3061G>A (p.Gly1021Ser)
|
rs1006221471
|
0.00001
|
|
NM_032634.4(PIGO):c.3062G>C (p.Gly1021Ala)
|
rs139423183
|
0.00001
|
|
NM_032634.4(PIGO):c.3069G>T (p.Gln1023His)
|
rs746286276
|
0.00001
|
|
NM_032634.4(PIGO):c.3169G>T (p.Val1057Leu)
|
rs1374835915
|
0.00001
|
|
NM_032634.4(PIGO):c.3198A>G (p.Ile1066Met)
|
rs1205267378
|
0.00001
|
|
NM_032634.4(PIGO):c.324G>T (p.Gln108His)
|
rs773937388
|
0.00001
|
|
NM_032634.4(PIGO):c.342G>T (p.Gln114His)
|
rs1470054515
|
0.00001
|
|
NM_032634.4(PIGO):c.362A>G (p.Tyr121Cys)
|
rs1283775272
|
0.00001
|
|
NM_032634.4(PIGO):c.371A>C (p.Gln124Pro)
|
rs1204483753
|
0.00001
|
|
NM_032634.4(PIGO):c.372G>T (p.Gln124His)
|
rs952844998
|
0.00001
|
|
NM_032634.4(PIGO):c.398A>G (p.Gln133Arg)
|
rs1384669720
|
0.00001
|
|
NM_032634.4(PIGO):c.448G>A (p.Gly150Ser)
|
rs774734630
|
0.00001
|
|
NM_032634.4(PIGO):c.460G>A (p.Ala154Thr)
|
rs201813691
|
0.00001
|
|
NM_032634.4(PIGO):c.484A>G (p.Asn162Asp)
|
rs776095449
|
0.00001
|
|
NM_032634.4(PIGO):c.490A>G (p.Ile164Val)
|
rs1425816362
|
0.00001
|
|
NM_032634.4(PIGO):c.531G>A (p.Met177Ile)
|
rs769886723
|
0.00001
|
|
NM_032634.4(PIGO):c.693C>G (p.Phe231Leu)
|
rs1587173214
|
0.00001
|
|
NM_032634.4(PIGO):c.698G>A (p.Gly233Asp)
|
rs1210708486
|
0.00001
|
|
NM_032634.4(PIGO):c.710G>T (p.Cys237Phe)
|
rs773052205
|
0.00001
|
|
NM_032634.4(PIGO):c.739G>A (p.Glu247Lys)
|
rs1266167213
|
0.00001
|
|
NM_032634.4(PIGO):c.749A>G (p.Lys250Arg)
|
rs200782253
|
0.00001
|
|
NM_032634.4(PIGO):c.782G>C (p.Gly261Ala)
|
rs762970543
|
0.00001
|
|
NM_032634.4(PIGO):c.793C>T (p.Arg265Cys)
|
rs765131021
|
0.00001
|
|
NM_032634.4(PIGO):c.817G>A (p.Val273Ile)
|
rs776286607
|
0.00001
|
|
NM_032634.4(PIGO):c.890C>G (p.Ala297Gly)
|
rs760357843
|
0.00001
|
|
NM_032634.4(PIGO):c.902A>G (p.Tyr301Cys)
|
rs771571749
|
0.00001
|
|
NM_032634.4(PIGO):c.907C>T (p.Pro303Ser)
|
rs1175305039
|
0.00001
|
|
NM_032634.4(PIGO):c.937G>C (p.Glu313Gln)
|
rs747260799
|
0.00001
|
|
NM_032634.4(PIGO):c.95G>A (p.Arg32His)
|
rs550039576
|
0.00001
|
|
NM_032634.4(PIGO):c.961G>C (p.Val321Leu)
|
rs1829514232
|
0.00001
|
|
NM_058216.3(RAD51C):c.1016T>C (p.Phe339Ser)
|
rs1060502602
|
0.00001
|
|
NM_058216.3(RAD51C):c.1031A>G (p.Gln344Arg)
|
rs2049559372
|
0.00001
|
|
NM_058216.3(RAD51C):c.1043A>T (p.Asp348Val)
|
rs111614311
|
0.00001
|
|
NM_058216.3(RAD51C):c.1046C>T (p.Thr349Ile)
|
rs776823687
|
0.00001
|
|
NM_058216.3(RAD51C):c.1051G>A (p.Val351Ile)
|
rs1160208500
|
0.00001
|
|
NM_058216.3(RAD51C):c.1055C>A (p.Thr352Asn)
|
rs786203771
|
0.00001
|
|
NM_058216.3(RAD51C):c.1061C>T (p.Ala354Val)
|
rs761770500
|
0.00001
|
|
NM_058216.3(RAD51C):c.1064G>A (p.Cys355Tyr)
|
rs1555605562
|
0.00001
|
|
NM_058216.3(RAD51C):c.1096C>T (p.Arg366Trp)
|
rs587782449
|
0.00001
|
|
NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln)
|
rs577852020
|
0.00001
|
|
NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln)
|
rs373170458
|
0.00001
|
|
NM_058216.3(RAD51C):c.121G>A (p.Val41Met)
|
rs879254131
|
0.00001
|
|
NM_058216.3(RAD51C):c.128C>T (p.Pro43Leu)
|
rs766958594
|
0.00001
|
|
NM_058216.3(RAD51C):c.145+5C>A
|
rs876660577
|
0.00001
|
|
NM_058216.3(RAD51C):c.145+5C>T
|
rs876660577
|
0.00001
|
|
NM_058216.3(RAD51C):c.146-7C>G
|
rs1428658524
|
0.00001
|
|
NM_058216.3(RAD51C):c.154A>C (p.Ile52Leu)
|
rs730881927
|
0.00001
|
|
NM_058216.3(RAD51C):c.161A>C (p.Lys54Thr)
|
rs587782296
|
0.00001
|
|
NM_058216.3(RAD51C):c.164C>T (p.Ala55Val)
|
rs730881928
|
0.00001
|
|
NM_058216.3(RAD51C):c.185A>G (p.Gln62Arg)
|
rs1308150896
|
0.00001
|
|
NM_058216.3(RAD51C):c.194G>C (p.Arg65Thr)
|
rs2047943468
|
0.00001
|
|
NM_058216.3(RAD51C):c.19C>A (p.Arg7Ser)
|
rs759759863
|
0.00001
|
|
NM_058216.3(RAD51C):c.1A>G (p.Met1Val)
|
rs921435798
|
0.00001
|
|
NM_058216.3(RAD51C):c.20G>A (p.Arg7His)
|
rs892567748
|
0.00001
|
|
NM_058216.3(RAD51C):c.214A>G (p.Lys72Glu)
|
rs775224480
|
0.00001
|
|
NM_058216.3(RAD51C):c.21C>G (p.Arg7=)
|
rs1443654986
|
0.00001
|
|
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile)
|
rs112832782
|
0.00001
|
|
NM_058216.3(RAD51C):c.234A>G (p.Thr78=)
|
rs730881929
|
0.00001
|
|
NM_058216.3(RAD51C):c.252G>T (p.Lys84Asn)
|
rs786202890
|
0.00001
|
|
NM_058216.3(RAD51C):c.253T>C (p.Cys85Arg)
|
rs1060502595
|
0.00001
|
|
NM_058216.3(RAD51C):c.28A>T (p.Met10Leu)
|
rs1452865935
|
0.00001
|
|
NM_058216.3(RAD51C):c.29T>G (p.Met10Arg)
|
rs730881936
|
0.00001
|
|
NM_058216.3(RAD51C):c.307T>A (p.Phe103Ile)
|
rs1114167446
|
0.00001
|
|
NM_058216.3(RAD51C):c.340G>A (p.Gly114Arg)
|
rs786203690
|
0.00001
|
|
NM_058216.3(RAD51C):c.35G>A (p.Arg12Gln)
|
rs764394130
|
0.00001
|
|
NM_058216.3(RAD51C):c.35G>C (p.Arg12Pro)
|
rs764394130
|
0.00001
|
|
NM_058216.3(RAD51C):c.361A>G (p.Thr121Ala)
|
rs969395239
|
0.00001
|
|
NM_058216.3(RAD51C):c.370T>A (p.Cys124Ser)
|
rs1273995533
|
0.00001
|
|
NM_058216.3(RAD51C):c.379C>A (p.Pro127Thr)
|
rs587782222
|
0.00001
|
|
NM_058216.3(RAD51C):c.385G>A (p.Val129Ile)
|
rs1555593879
|
0.00001
|
|
NM_058216.3(RAD51C):c.3G>A (p.Met1Ile)
|
rs769053886
|
0.00001
|
|
NM_058216.3(RAD51C):c.406A>T (p.Met136Leu)
|
rs587780254
|
0.00001
|
|
NM_058216.3(RAD51C):c.408G>A (p.Met136Ile)
|
rs587780836
|
0.00001
|
|
NM_058216.3(RAD51C):c.418G>C (p.Val140Leu)
|
rs730881938
|
0.00001
|
|
NM_058216.3(RAD51C):c.434C>T (p.Pro145Leu)
|
rs1291341143
|
0.00001
|
|
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)
|
rs765730332
|
0.00001
|
|
NM_058216.3(RAD51C):c.460G>A (p.Glu154Lys)
|
rs1194019460
|
0.00001
|
|
NM_058216.3(RAD51C):c.46A>G (p.Ser16Gly)
|
rs762060755
|
0.00001
|
|
NM_058216.3(RAD51C):c.487A>G (p.Ser163Gly)
|
rs776904180
|
0.00001
|
|
NM_058216.3(RAD51C):c.497T>C (p.Val166Ala)
|
rs765300465
|
0.00001
|
|
NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr)
|
rs587780838
|
0.00001
|
|
NM_058216.3(RAD51C):c.536A>G (p.His179Arg)
|
rs1064794989
|
0.00001
|
|
NM_058216.3(RAD51C):c.53C>T (p.Pro18Leu)
|
rs754498936
|
0.00001
|
|
NM_058216.3(RAD51C):c.547A>G (p.Ile183Val)
|
rs753475114
|
0.00001
|
|
NM_058216.3(RAD51C):c.548T>C (p.Ile183Thr)
|
rs756727559
|
0.00001
|
|
NM_058216.3(RAD51C):c.550G>A (p.Ala184Thr)
|
rs1060502604
|
0.00001
|
|
NM_058216.3(RAD51C):c.556A>C (p.Lys186Gln)
|
rs1363104728
|
0.00001
|
|
NM_058216.3(RAD51C):c.563A>T (p.Lys188Met)
|
rs587781680
|
0.00001
|
|
NM_058216.3(RAD51C):c.571+4A>G
|
rs587780257
|
0.00001
|
|
NM_058216.3(RAD51C):c.578G>A (p.Arg193Gln)
|
rs587782332
|
0.00001
|
|
NM_058216.3(RAD51C):c.601C>G (p.Leu201Val)
|
rs531838785
|
0.00001
|
|
NM_058216.3(RAD51C):c.607A>G (p.Asn203Asp)
|
rs538884532
|
0.00001
|
|
NM_058216.3(RAD51C):c.620A>G (p.His207Arg)
|
rs587781921
|
0.00001
|
|
NM_058216.3(RAD51C):c.621T>A (p.His207Gln)
|
rs786201848
|
0.00001
|
|
NM_058216.3(RAD51C):c.622A>G (p.Ile208Val)
|
rs771078849
|
0.00001
|
|
NM_058216.3(RAD51C):c.62C>T (p.Pro21Leu)
|
rs587782511
|
0.00001
|
|
NM_058216.3(RAD51C):c.634C>T (p.Arg212Cys)
|
rs137947462
|
0.00001
|
|
NM_058216.3(RAD51C):c.641G>A (p.Arg214His)
|
rs760911964
|
0.00001
|
|
NM_058216.3(RAD51C):c.644A>G (p.Asp215Gly)
|
rs1483938000
|
0.00001
|
|
NM_058216.3(RAD51C):c.653A>G (p.Glu218Gly)
|
rs1321358603
|
0.00001
|
|
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser)
|
rs201529791
|
0.00001
|
|
NM_058216.3(RAD51C):c.680C>T (p.Pro227Leu)
|
rs1374461662
|
0.00001
|
|
NM_058216.3(RAD51C):c.687C>G (p.Phe229Leu)
|
rs780177888
|
0.00001
|
|
NM_058216.3(RAD51C):c.710G>A (p.Arg237Gln)
|
rs370393672
|
0.00001
|
|
NM_058216.3(RAD51C):c.722T>C (p.Val241Ala)
|
rs1555599127
|
0.00001
|
|
NM_058216.3(RAD51C):c.730A>G (p.Ile244Val)
|
rs199886026
|
0.00001
|
|
NM_058216.3(RAD51C):c.73G>A (p.Val25Met)
|
rs757116652
|
0.00001
|
|
NM_058216.3(RAD51C):c.740C>T (p.Pro247Leu)
|
rs2048495457
|
0.00001
|
|
NM_058216.3(RAD51C):c.748C>T (p.His250Tyr)
|
rs531540031
|
0.00001
|
|
NM_058216.3(RAD51C):c.758A>G (p.Asp253Gly)
|
rs1060502592
|
0.00001
|
|
NM_058216.3(RAD51C):c.76A>G (p.Lys26Glu)
|
rs1233718307
|
0.00001
|
|
NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys)
|
rs587782474
|
0.00001
|
|
NM_058216.3(RAD51C):c.779G>A (p.Arg260Gln)
|
rs730881926
|
0.00001
|
|
NM_058216.3(RAD51C):c.869T>C (p.Ile290Thr)
|
rs749645694
|
0.00001
|
|
NM_058216.3(RAD51C):c.892G>C (p.Val298Leu)
|
rs1555602145
|
0.00001
|
|
NM_058216.3(RAD51C):c.899C>T (p.Ala300Val)
|
rs1444333199
|
0.00001
|
|
NM_058216.3(RAD51C):c.92G>A (p.Gly31Glu)
|
rs587781441
|
0.00001
|
|
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp)
|
rs730881932
|
0.00001
|
|
NM_058216.3(RAD51C):c.952G>T (p.Asp318Tyr)
|
rs876659875
|
0.00001
|
|
NM_058216.3(RAD51C):c.965+4A>G
|
rs1555603065
|
0.00001
|
|
NM_058216.3(RAD51C):c.966-1G>C
|
rs876658272
|
0.00001
|
|
NM_058216.3(RAD51C):c.982A>G (p.Lys328Glu)
|
rs1555605064
|
0.00001
|
|
NM_130468.4(CHST14):c.1010A>G (p.His337Arg)
|
rs772159874
|
0.00001
|
|
NM_130468.4(CHST14):c.158C>A (p.Ser53Tyr)
|
rs896003662
|
0.00001
|
|
NM_130468.4(CHST14):c.325C>T (p.Arg109Trp)
|
rs201632751
|
0.00001
|
|
NM_130468.4(CHST14):c.401G>A (p.Arg134Gln)
|
rs1484119071
|
0.00001
|
|
NM_130468.4(CHST14):c.439T>C (p.Tyr147His)
|
rs775350610
|
0.00001
|
|
NM_130468.4(CHST14):c.467A>G (p.Lys156Arg)
|
rs1017593366
|
0.00001
|
|
NM_130468.4(CHST14):c.548A>G (p.Asp183Gly)
|
rs1595869476
|
0.00001
|
|
NM_130468.4(CHST14):c.685G>A (p.Glu229Lys)
|
rs370299419
|
0.00001
|
|
NM_130468.4(CHST14):c.687G>C (p.Glu229Asp)
|
rs766320306
|
0.00001
|
|
NM_130468.4(CHST14):c.871G>A (p.Val291Met)
|
rs369563820
|
0.00001
|
|
NM_130468.4(CHST14):c.8C>T (p.Pro3Leu)
|
rs1389417786
|
0.00001
|
|
NM_130468.4(CHST14):c.919A>G (p.Asn307Asp)
|
rs767533841
|
0.00001
|
|
NM_130468.4(CHST14):c.922C>A (p.Gln308Lys)
|
rs373443856
|
0.00001
|
|
NM_130468.4(CHST14):c.958C>T (p.Arg320Ter)
|
rs1555410784
|
0.00001
|
|
NM_133433.4(NIPBL):c.1150A>G (p.Asn384Asp)
|
rs587783881
|
0.00001
|
|
NM_133433.4(NIPBL):c.1583C>T (p.Thr528Met)
|
rs574981584
|
0.00001
|
|
NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser)
|
rs144289137
|
0.00001
|
|
NM_133433.4(NIPBL):c.2081A>G (p.Glu694Gly)
|
rs144812404
|
0.00001
|
|
NM_133433.4(NIPBL):c.2128C>T (p.Arg710Trp)
|
rs774516564
|
0.00001
|
|
NM_133433.4(NIPBL):c.2501G>A (p.Arg834Gln)
|
rs757394370
|
0.00001
|
|
NM_133433.4(NIPBL):c.2511G>C (p.Gln837His)
|
rs201163469
|
0.00001
|
|
NM_133433.4(NIPBL):c.2701A>C (p.Asn901His)
|
rs918012033
|
0.00001
|
|
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu)
|
rs587783916
|
0.00001
|
|
NM_133433.4(NIPBL):c.332G>A (p.Ser111Asn)
|
rs587783920
|
0.00001
|
|
NM_133433.4(NIPBL):c.3894C>G (p.Asp1298Glu)
|
rs770936588
|
0.00001
|
|
NM_133433.4(NIPBL):c.42G>A (p.Ala14=)
|
rs727504045
|
0.00001
|
|
NM_133433.4(NIPBL):c.461G>A (p.Arg154Gln)
|
rs200692598
|
0.00001
|
|
NM_133433.4(NIPBL):c.4678C>T (p.Pro1560Ser)
|
rs150683463
|
0.00001
|
|
NM_133433.4(NIPBL):c.4907G>T (p.Arg1636Leu)
|
rs886042731
|
0.00001
|
|
NM_133433.4(NIPBL):c.494G>A (p.Arg165Lys)
|
rs1355970346
|
0.00001
|
|
NM_133433.4(NIPBL):c.617T>A (p.Val206Glu)
|
rs1742780375
|
0.00001
|
|
NM_133433.4(NIPBL):c.6189A>T (p.Glu2063Asp)
|
rs773286952
|
0.00001
|
|
NM_133433.4(NIPBL):c.7463A>G (p.Asn2488Ser)
|
rs794727675
|
0.00001
|
|
NM_147127.5(EVC2):c.1006-12A>G
|
rs1205381388
|
0.00001
|
|
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser)
|
rs769781725
|
0.00001
|
|
NM_147127.5(EVC2):c.11C>T (p.Ser4Leu)
|
rs1468421367
|
0.00001
|
|
NM_147127.5(EVC2):c.1328T>C (p.Ile443Thr)
|
rs1459733035
|
0.00001
|
|
NM_147127.5(EVC2):c.1427C>T (p.Ala476Val)
|
rs774347118
|
0.00001
|
|
NM_147127.5(EVC2):c.1502C>T (p.Thr501Ile)
|
rs1209098952
|
0.00001
|
|
NM_147127.5(EVC2):c.1658A>G (p.Glu553Gly)
|
rs766349604
|
0.00001
|
|
NM_147127.5(EVC2):c.1711-6T>A
|
rs780082286
|
0.00001
|
|
NM_147127.5(EVC2):c.1732G>A (p.Asp578Asn)
|
rs757316188
|
0.00001
|
|
NM_147127.5(EVC2):c.1747A>T (p.Ser583Cys)
|
rs1222356750
|
0.00001
|
|
NM_147127.5(EVC2):c.1852G>A (p.Ala618Thr)
|
rs765933739
|
0.00001
|
|
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln)
|
rs773470850
|
0.00001
|
|
NM_147127.5(EVC2):c.2023A>G (p.Arg675Gly)
|
rs754390055
|
0.00001
|
|
NM_147127.5(EVC2):c.2075C>A (p.Ser692Tyr)
|
rs1318313186
|
0.00001
|
|
NM_147127.5(EVC2):c.2254C>T (p.Arg752Trp)
|
rs532778814
|
0.00001
|
|
NM_147127.5(EVC2):c.2404G>C (p.Gly802Arg)
|
rs577020845
|
0.00001
|
|
NM_147127.5(EVC2):c.2424G>C (p.Gln808His)
|
rs541956407
|
0.00001
|
|
NM_147127.5(EVC2):c.2706+5G>T
|
rs747272944
|
0.00001
|
|
NM_147127.5(EVC2):c.2707-3C>T
|
rs755042717
|
0.00001
|
|
NM_147127.5(EVC2):c.283+18T>G
|
rs894951363
|
0.00001
|
|
NM_147127.5(EVC2):c.2876A>T (p.Gln959Leu)
|
rs1228531350
|
0.00001
|
|
NM_147127.5(EVC2):c.2954A>C (p.Tyr985Ser)
|
rs753942333
|
0.00001
|
|
NM_147127.5(EVC2):c.295C>T (p.Leu99Phe)
|
rs897972159
|
0.00001
|
|
NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys)
|
rs779884599
|
0.00001
|
|
NM_147127.5(EVC2):c.3499G>A (p.Val1167Met)
|
rs775202977
|
0.00001
|
|
NM_147127.5(EVC2):c.3508G>A (p.Ala1170Thr)
|
rs748514374
|
0.00001
|
|
NM_147127.5(EVC2):c.3579A>C (p.Gln1193His)
|
rs1346353134
|
0.00001
|
|
NM_147127.5(EVC2):c.3604G>A (p.Asp1202Asn)
|
rs752599166
|
0.00001
|
|
NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys)
|
rs763433901
|
0.00001
|
|
NM_147127.5(EVC2):c.3854T>C (p.Leu1285Pro)
|
rs746578489
|
0.00001
|
|
NM_147127.5(EVC2):c.551G>A (p.Arg184His)
|
rs771841841
|
0.00001
|
|
NM_147127.5(EVC2):c.572A>C (p.Asn191Thr)
|
rs754001550
|
0.00001
|
|
NM_147127.5(EVC2):c.602C>T (p.Ser201Leu)
|
rs766533908
|
0.00001
|
|
NM_147127.5(EVC2):c.851C>G (p.Thr284Arg)
|
rs771493745
|
0.00001
|
|
NM_153717.3(EVC):c.1247G>A (p.Arg416Gln)
|
rs745640537
|
0.00001
|
|
NM_153717.3(EVC):c.1283C>T (p.Ala428Val)
|
rs1409088904
|
0.00001
|
|
NM_153717.3(EVC):c.1316-10T>A
|
rs1730755993
|
0.00001
|
|
NM_153717.3(EVC):c.136C>T (p.Leu46Phe)
|
rs1246844384
|
0.00001
|
|
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys)
|
rs146232611
|
0.00001
|
|
NM_153717.3(EVC):c.1638G>T (p.Met546Ile)
|
rs1225766769
|
0.00001
|
|
NM_153717.3(EVC):c.1693G>A (p.Ala565Thr)
|
rs926749491
|
0.00001
|
|
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp)
|
rs1373148885
|
0.00001
|
|
NM_153717.3(EVC):c.1955G>A (p.Arg652His)
|
rs765024763
|
0.00001
|
|
NM_153717.3(EVC):c.2026G>A (p.Glu676Lys)
|
rs367968708
|
0.00001
|
|
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly)
|
rs765248751
|
0.00001
|
|
NM_153717.3(EVC):c.2500C>T (p.Pro834Ser)
|
rs1395596111
|
0.00001
|
|
NM_153717.3(EVC):c.2732G>A (p.Arg911Gln)
|
rs930402783
|
0.00001
|
|
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe)
|
rs370825749
|
0.00001
|
|
NM_153717.3(EVC):c.2761C>T (p.Pro921Ser)
|
rs771505230
|
0.00001
|
|
NM_153717.3(EVC):c.27G>C (p.Lys9Asn)
|
rs1474600088
|
0.00001
|
|
NM_153717.3(EVC):c.340G>A (p.Ala114Thr)
|
rs756208272
|
0.00001
|
|
NM_153717.3(EVC):c.49G>A (p.Gly17Arg)
|
rs1722991667
|
0.00001
|
|
NM_153717.3(EVC):c.568C>T (p.Arg190Cys)
|
rs1286815295
|
0.00001
|
|
NM_153717.3(EVC):c.853A>G (p.Met285Val)
|
rs1464387798
|
0.00001
|
|
NM_153717.3(EVC):c.86C>T (p.Ala29Val)
|
rs1314509668
|
0.00001
|
|
NM_153717.3(EVC):c.878A>G (p.Tyr293Cys)
|
rs1252316234
|
0.00001
|
|
NM_153717.3(EVC):c.884C>G (p.Thr295Ser)
|
rs754532508
|
0.00001
|
|
NM_173660.5(DOK7):c.1057T>C (p.Ser353Pro)
|
rs931160069
|
0.00001
|
|
NM_173660.5(DOK7):c.1058C>T (p.Ser353Leu)
|
rs757019137
|
0.00001
|
|
NM_173660.5(DOK7):c.1096A>G (p.Thr366Ala)
|
rs556239795
|
0.00001
|
|
NM_173660.5(DOK7):c.1103A>G (p.Glu368Gly)
|
rs375795223
|
0.00001
|
|
NM_173660.5(DOK7):c.1138G>C (p.Ala380Pro)
|
rs760412846
|
0.00001
|
|
NM_173660.5(DOK7):c.1214A>G (p.Tyr405Cys)
|
rs746536929
|
0.00001
|
|
NM_173660.5(DOK7):c.1217A>G (p.Asp406Gly)
|
rs1027188166
|
0.00001
|
|
NM_173660.5(DOK7):c.1228A>G (p.Ser410Gly)
|
rs547633164
|
0.00001
|
|
NM_173660.5(DOK7):c.1247G>T (p.Arg416Ile)
|
rs1392647950
|
0.00001
|
|
NM_173660.5(DOK7):c.1268A>G (p.Gln423Arg)
|
rs756360879
|
0.00001
|
|
NM_173660.5(DOK7):c.1280G>A (p.Gly427Asp)
|
rs2020433
|
0.00001
|
|
NM_173660.5(DOK7):c.1355G>A (p.Arg452Gln)
|
rs777057956
|
0.00001
|
|
NM_173660.5(DOK7):c.1367T>G (p.Met456Arg)
|
rs753317302
|
0.00001
|
|
NM_173660.5(DOK7):c.1379A>G (p.Gln460Arg)
|
rs898026035
|
0.00001
|
|
NM_173660.5(DOK7):c.1387G>A (p.Glu463Lys)
|
rs745941308
|
0.00001
|
|
NM_173660.5(DOK7):c.1411C>T (p.Pro471Ser)
|
rs764872565
|
0.00001
|
|
NM_173660.5(DOK7):c.1412C>T (p.Pro471Leu)
|
rs535473251
|
0.00001
|
|
NM_173660.5(DOK7):c.1448G>A (p.Gly483Glu)
|
rs761289689
|
0.00001
|
|
NM_173660.5(DOK7):c.1478C>T (p.Pro493Leu)
|
rs773679215
|
0.00001
|
|
NM_173660.5(DOK7):c.1485T>A (p.Cys495Ter)
|
rs1219587536
|
0.00001
|
|
NM_173660.5(DOK7):c.1513T>C (p.Ter505Arg)
|
rs1189551686
|
0.00001
|
|
NM_173660.5(DOK7):c.151C>A (p.Leu51Met)
|
rs761336523
|
0.00001
|
|
NM_173660.5(DOK7):c.328G>A (p.Glu110Lys)
|
rs1024410823
|
0.00001
|
|
NM_173660.5(DOK7):c.383C>T (p.Pro128Leu)
|
rs376659660
|
0.00001
|
|
NM_173660.5(DOK7):c.386C>T (p.Ala129Val)
|
rs1158650422
|
0.00001
|
|
NM_173660.5(DOK7):c.412C>A (p.Leu138Ile)
|
rs747942116
|
0.00001
|
|
NM_173660.5(DOK7):c.415G>A (p.Val139Ile)
|
rs571769859
|
0.00001
|
|
NM_173660.5(DOK7):c.458A>C (p.Lys153Thr)
|
rs1362167631
|
0.00001
|
|
NM_173660.5(DOK7):c.460C>G (p.Leu154Val)
|
rs775014794
|
0.00001
|
|
NM_173660.5(DOK7):c.472C>T (p.Arg158Trp)
|
rs753436594
|
0.00001
|
|
NM_173660.5(DOK7):c.476G>A (p.Arg159His)
|
rs1485585052
|
0.00001
|
|
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)
|
rs758131044
|
0.00001
|
|
NM_173660.5(DOK7):c.490C>T (p.Pro164Ser)
|
rs142756576
|
0.00001
|
|
NM_173660.5(DOK7):c.496G>A (p.Gly166Arg)
|
rs781227659
|
0.00001
|
|
NM_173660.5(DOK7):c.49A>C (p.Lys17Gln)
|
rs1726073976
|
0.00001
|
|
NM_173660.5(DOK7):c.562G>A (p.Glu188Lys)
|
rs1388813398
|
0.00001
|
|
NM_173660.5(DOK7):c.578G>A (p.Ser193Asn)
|
rs760505816
|
0.00001
|
|
NM_173660.5(DOK7):c.598G>A (p.Val200Ile)
|
rs1388192187
|
0.00001
|
|
NM_173660.5(DOK7):c.602G>A (p.Arg201Gln)
|
rs1339181692
|
0.00001
|
|
NM_173660.5(DOK7):c.635T>C (p.Leu212Pro)
|
rs553985062
|
0.00001
|
|
NM_173660.5(DOK7):c.649C>T (p.Pro217Ser)
|
rs1301546614
|
0.00001
|
|
NM_173660.5(DOK7):c.652+5G>A
|
rs772918388
|
0.00001
|
|
NM_173660.5(DOK7):c.655C>G (p.Pro219Ala)
|
rs956613882
|
0.00001
|
|
NM_173660.5(DOK7):c.676A>G (p.Thr226Ala)
|
rs1447016347
|
0.00001
|
|
NM_173660.5(DOK7):c.691G>A (p.Val231Met)
|
rs369297851
|
0.00001
|
|
NM_173660.5(DOK7):c.716T>G (p.Leu239Arg)
|
rs1023898774
|
0.00001
|
|
NM_173660.5(DOK7):c.766A>G (p.Ser256Gly)
|
rs750004938
|
0.00001
|
|
NM_173660.5(DOK7):c.878G>T (p.Ser293Ile)
|
rs767303929
|
0.00001
|
|
NM_173660.5(DOK7):c.946A>G (p.Arg316Gly)
|
rs898373845
|
0.00001
|
|
NC_000001.10:g.(?_100316599)_(100488032_?)dup
|
|
|
|
NC_000001.10:g.(?_100472580)_(100472722_?)del
|
|
|
|
NC_000001.10:g.(?_145414782)_(145610584_?)dup
|
|
|
|
NC_000002.11:g.(?_175612842)_(175629600_?)dup
|
|
|
|
NC_000002.11:g.(?_233390906)_(233410446_?)dup
|
|
|
|
NC_000002.11:g.(?_58386900)_(58390229_?)dup
|
|
|
|
NC_000002.11:g.(?_58386900)_(58393029_?)dup
|
|
|
|
NC_000002.11:g.(?_58386900)_(58468448_?)dup
|
|
|
|
NC_000002.12:g.(?_58159755)_(58241323_?)dup
|
|
|
|
NC_000003.11:g.(?_10084233)_(10085558_?)dup
|
|
|
|
NC_000003.11:g.(?_10127486)_(10140634_?)dup
|
|
|
|
NC_000003.11:g.(?_10127486)_(10140644_?)dup
|
|
|
|
NC_000003.11:g.(?_10138000)_(10140634_?)del
|
|
|
|
NC_000003.11:g.(?_69058768)_(69058997_?)dup
|
|
|
|
NC_000003.12:g.(?_10028648)_(10043874_?)dup
|
|
|
|
NC_000003.12:g.(?_10090282)_(10098950_?)dup
|
|
|
|
NC_000004.11:g.(?_3465093)_(3495238_?)dup
|
|
|
|
NC_000004.11:g.(?_3465103)_(3465298_?)dup
|
|
|
|
NC_000004.11:g.(?_3465103)_(3495228_?)dup
|
|
|
|
NC_000004.11:g.(?_3494787)_3495019dup
|
|
|
|
NC_000004.11:g.(?_5720955)_(5721120_?)del
|
|
|
|
NC_000005.10:g.(?_128301372)_(128312805_?)dup
|
|
|
|
NC_000005.10:g.(?_128318139)_(128319011_?)dup
|
|
|
|
NC_000005.10:g.(?_128350858)_(128351015_?)del
|
|
|
|
NC_000005.10:g.(?_128408654)_(128530713_?)del
|
|
|
|
NC_000005.10:g.(?_128408664)_(128530703_?)del
|
|
|
|
NC_000005.10:g.(?_128530575)_(128530713_?)del
|
|
|
|
NC_000005.10:g.(?_128537340)_(128537613_?)del
|
|
|
|
NC_000005.9:g.(?_127595147)_(127873296_?)del
|
|
|
|
NC_000005.9:g.(?_127622400)_(127645101_?)dup
|
|
|
|
NC_000005.9:g.(?_127666331)_(127799615_?)del
|
|
|
|
NC_000005.9:g.(?_127685029)_(127686707_?)del
|
|
|
|
NC_000005.9:g.(?_127689859)_(127693060_?)del
|
|
|
|
NC_000005.9:g.(?_127712503)_(127716032_?)del
|
|
|
|
NC_000005.9:g.(?_37002744)_(37046321_?)dup
|
|
|
|
NC_000006.11:g.(?_35420323)_(35424150_?)dup
|
|
|
|
NC_000006.11:g.(?_35420323)_(35434122_?)dup
|
|
|
|
NC_000006.11:g.(?_35428309)_(35434122_?)dup
|
|
|
|
NC_000006.11:g.(?_35430556)_(35434122_?)del
|
|
|
|
NC_000008.10:g.(?_117574515)_(117878968_?)dup
|
|
|
|
NC_000008.10:g.(?_117859739)_(117866727_?)dup
|
|
|
|
NC_000008.10:g.(?_37595441)_(38961219_?)dup
|
|
|
|
NC_000009.11:g.(?_113006437)_(113563268_?)dup
|
|
|
|
NC_000009.11:g.(?_113431185)_(113459766_?)dup
|
|
|
|
NC_000009.11:g.(?_137534034)_(139440238_?)dup
|
|
|
|
NC_000009.11:g.(?_138683633)_(139440248_?)dup
|
|
|
|
NC_000009.11:g.(?_139390503)_(139438574_?)dup
|
|
|
|
NC_000009.11:g.(?_139390513)_(139440248_?)dup
|
|
|
|
NC_000009.11:g.(?_139390523)_(139438574_?)dup
|
|
|
|
NC_000009.11:g.(?_139438456)_(139440238_?)dup
|
|
|
|
NC_000009.11:g.(?_32453279)_(37785041_?)dup
|
|
|
|
NC_000009.11:g.(?_34458984)_(35809462_?)dup
|
|
|
|
NC_000009.11:g.(?_35072710)_(35079521_?)dup
|
|
|
|
NC_000009.11:g.(?_35683146)_(36277049_?)dup
|
|
|
|
NC_000009.11:g.(?_97863983)_(98270649_?)dup
|
|
|
|
NC_000009.11:g.(?_97863989)_(98079991_?)dup
|
|
|
|
NC_000009.11:g.(?_98002921)_(98079991_?)dup
|
|
|
|
NC_000009.11:g.(?_98079798)_(98279100_?)del
|
|
|
|
NC_000009.12:g.(?_136496051)_(136523999_?)del
|
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|
|
NC_000009.12:g.(?_35683149)_(35689827_?)dup
|
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|
|
NC_000009.12:g.(?_95107056)_(95107279_?)del
|
|
|
|
NC_000010.10:g.(?_111860412)_(112839579_?)dup
|
|
|
|
NC_000011.9:g.(?_22644079)_(22647387_?)dup
|
|
|
|
NC_000011.9:g.(?_22646226)_(22647362_?)dup
|
|
|
|
NC_000011.9:g.(?_22646232)_(22647356_?)dup
|
|
|
|
NC_000011.9:g.(?_46880534)_(46893204_?)dup
|
|
|
|
NC_000011.9:g.(?_46880534)_(46918565_?)dup
|
|
|
|
NC_000011.9:g.(?_47431646)_(47470726_?)dup
|
|
|
|
NC_000014.8:g.(?_45605225)_(45609922_?)dup
|
|
|
|
NC_000014.8:g.(?_45605235)_(45669211_?)dup
|
|
|
|
NC_000014.8:g.(?_45618030)_(45618208_?)del
|
|
|
|
NC_000014.8:g.(?_45618030)_(45633778_?)del
|
|
|
|
NC_000014.8:g.(?_45630372)_(45633544_?)del
|
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|
|
NC_000014.8:g.(?_45654410)_(45657100_?)del
|
|
|
|
NC_000014.9:g.(?_45164349)_(45164575_?)del
|
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|
|
NC_000015.10:g.(?_89290203)_(89291724_?)del
|
|
|
|
NC_000015.9:g.(?_40763403)_(40764553_?)dup
|
|
|
|
NC_000015.9:g.(?_40763413)_(40764543_?)dup
|
|
|
|
NC_000015.9:g.(?_89790879)_(89825086_?)dup
|
|
|
|
NC_000015.9:g.(?_89790879)_(89859690_?)dup
|
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|
|
NC_000015.9:g.(?_89801915)_(89828469_?)del
|
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|
|
NC_000015.9:g.(?_89811610)_(89817555_?)del
|
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|
|
NC_000015.9:g.(?_89828307)_(89828469_?)del
|
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|
|
NC_000016.10:g.(?_13821951)_(13937868_?)dup
|
|
|
|
NC_000016.10:g.(?_89738601)_(89816616_?)dup
|
|
|
|
NC_000016.10:g.(?_89795896)_(89805402_?)del
|
|
|
|
NC_000016.10:g.(?_89814510)_(89816616_?)dup
|
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|
|
NC_000016.9:g.(?_13915808)_(14724045_?)dup
|
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|
|
NC_000016.9:g.(?_14031613)_(14031725_?)del
|
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|
|
NC_000016.9:g.(?_3293141)_(5971108_?)dup
|
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|
|
NC_000016.9:g.(?_3632337)_(3658971_?)dup
|
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|
|
NC_000016.9:g.(?_3638993)_(3658965_?)dup
|
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|
|
NC_000016.9:g.(?_3860584)_(3860800_?)del
|
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|
|
NC_000016.9:g.(?_3929813)_(4387545_?)dup
|
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|
|
NC_000016.9:g.(?_89556653)_(89851392_?)dup
|
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|
|
NC_000016.9:g.(?_89611036)_(90106937_?)dup
|
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|
|
NC_000016.9:g.(?_89805009)_(89809366_?)dup
|
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|
|
NC_000016.9:g.(?_89805009)_(89813308_?)dup
|
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|
|
NC_000016.9:g.(?_89805009)_(89831484_?)dup
|
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|
|
NC_000016.9:g.(?_89805009)_(89858965_?)dup
|
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|
NC_000016.9:g.(?_89805009)_(89866066_?)dup
|
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|
NC_000016.9:g.(?_89805270)_(89806527_?)dup
|
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|
NC_000016.9:g.(?_89805270)_(89807294_?)dup
|
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|
NC_000016.9:g.(?_89824965)_(89883023_?)dup
|
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|
NC_000016.9:g.(?_89842130)_(89883023_?)dup
|
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|
NC_000016.9:g.(?_89869657)_(89881031_?)dup
|
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|
NC_000016.9:g.(?_89880928)_(89883065_?)dup
|
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|
NC_000016.9:g.(?_89882935)_(89883024_?)dup
|
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|
NC_000017.10:g.(?_34856670)_(35478412_?)del
|
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|
NC_000017.10:g.(?_34863642)_(34916711_?)dup
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NC_000017.10:g.(?_34892951)_(34894465_?)dup
|
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|
NC_000017.10:g.(?_34892951)_(36104875_?)del
|
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|
NC_000017.10:g.(?_34892951)_(36104875_?)dup
|
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|
NC_000017.10:g.(?_56432304)_(56811583_?)dup
|
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|
NC_000017.10:g.(?_56769986)_(56801482_?)dup
|
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|
|
NC_000017.10:g.(?_56769995)_(56801471_?)dup
|
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|
NC_000017.10:g.(?_56769995)_(56811593_?)dup
|
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|
NC_000017.10:g.(?_56769999)_(56774226_?)dup
|
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|
NC_000017.10:g.(?_56769999)_(56801467_?)dup
|
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|
NC_000017.10:g.(?_56769999)_(56811589_?)dup
|
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NC_000017.10:g.(?_56772286)_(56774226_?)dup
|
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NC_000017.10:g.(?_56780547)_(56811583_?)dup
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|
NC_000017.10:g.(?_56787210)_(56787361_?)dup
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NC_000017.10:g.(?_56787214)_(56787357_?)dup
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NC_000017.10:g.(?_59760647)_(59761511_?)dup
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|
NC_000017.10:g.(?_59760647)_(59938910_?)dup
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NC_000017.10:g.(?_59760651)_(59938906_?)dup
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NC_000017.10:g.(?_59760657)_(59763536_?)dup
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|
NC_000017.10:g.(?_59760657)_(59886138_?)dup
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|
NC_000017.10:g.(?_59760657)_(59938900_?)dup
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NC_000017.10:g.(?_59820364)_(59886128_?)dup
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|
NC_000017.10:g.(?_59820374)_(59886118_?)dup
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|
NC_000017.10:g.(?_59853752)_(59853933_?)del
|
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|
NC_000017.10:g.(?_59853752)_(59938900_?)dup
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|
NC_000017.10:g.(?_59853752)_(59938910_?)dup
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|
NC_000017.10:g.(?_59853756)_(59938906_?)dup
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|
NC_000017.10:g.(?_59857612)_(59857772_?)del
|
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NC_000017.10:g.(?_59861621)_(59938900_?)dup
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NC_000017.10:g.(?_59861625)_(59938906_?)dup
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|
NC_000017.10:g.(?_59870952)_(59876666_?)del
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NC_000017.10:g.(?_59870952)_(59886124_?)dup
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NC_000017.10:g.(?_59885818)_(59938900_?)dup
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NC_000017.10:g.(?_59885822)_(59938906_?)dup
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NC_000017.10:g.(?_59924452)_(59938900_?)dup
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|
NC_000017.10:g.(?_59924456)_(59938906_?)dup
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NC_000017.10:g.(?_59937147)_(59938900_?)dup
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|
NC_000017.10:g.(?_59938798)_(59938900_?)dup
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|
NC_000017.11:g.(?_36537082)_(36538636_?)del
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|
NC_000017.11:g.(?_58692625)_(58696869_?)dup
|
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|
NC_000017.11:g.(?_58692625)_(58710000_?)dup
|
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|
NC_000017.11:g.(?_58692634)_(58692798_?)dup
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NC_000017.11:g.(?_58692634)_(58710000_?)dup
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NC_000017.11:g.(?_58709849)_(58734232_?)dup
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NC_000017.11:g.(?_58720736)_(58734232_?)dup
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NC_000017.11:g.(?_61683286)_(61808767_?)dup
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NC_000017.11:g.(?_61683296)_(61684150_?)dup
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NC_000017.11:g.(?_61683296)_(61693522_?)dup
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NC_000017.11:g.(?_61685826)_(61686175_?)del
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NC_000017.11:g.(?_61715941)_(61716073_?)dup
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NC_000017.11:g.(?_61743003)_(61781015_?)dup
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NC_000017.11:g.(?_61776391)_(61784434_?)del
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NC_000017.11:g.(?_61780251)_(61784434_?)del
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NC_000017.11:g.(?_61780255)_(61784430_?)del
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NC_000017.11:g.(?_61793587)_(61799309_?)del
|
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|
NC_000017.11:g.(?_61799090)_(61861539_?)dup
|
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NC_000017.11:g.(?_61847091)_(61861549_?)dup
|
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NC_000017.11:g.(?_61857048)_(61857241_?)del
|
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|
NC_000017.11:g.(?_61861437)_(61861549_?)dup
|
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|
NC_000019.9:g.(?_39904727)_(42931301_?)dup
|
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|
NC_000023.10:g.(?_14861689)_(14877476_?)dup
|
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|
NC_000023.10:g.(?_14861689)_(15870650_?)dup
|
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|
NC_000023.10:g.(?_47058202)_(47074328_?)del
|
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NC_000023.10:g.(?_47058202)_(47074328_?)dup
|
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NC_000023.10:g.(?_53276131)_(53449569_?)dup
|
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NC_000023.10:g.(?_53349595)_(53410194_?)dup
|
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|
NC_000023.10:g.(?_53349605)_(53410184_?)dup
|
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NC_000023.10:g.(?_53349615)_(53410174_?)dup
|
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|
|
NC_000023.10:g.(?_53407004)_(53449569_?)dup
|
|
|
|
NC_000023.10:g.(?_53421678)_(53449569_?)dup
|
|
|
|
NC_000023.10:g.(?_53421698)_(53421808_?)del
|
|
|
|
NC_000023.10:g.(?_53423127)_(53572142_?)dup
|
|
|
|
NC_000023.11:g.(?_14843557)_(14873062_?)dup
|
|
|
|
NM_000079.4(CHRNA1):c.1002+5del
|
|
|
|
NM_000079.4(CHRNA1):c.1002G>A (p.Lys334=)
|
|
|
|
NM_000079.4(CHRNA1):c.1003-10T>A
|
rs2105344468
|
|
|
NM_000079.4(CHRNA1):c.1003-3T>C
|
rs1683789512
|
|
|
NM_000079.4(CHRNA1):c.1011C>T (p.Ile337=)
|
|
|
|
NM_000079.4(CHRNA1):c.1012G>C (p.Asp338His)
|
|
|
|
NM_000079.4(CHRNA1):c.1016C>T (p.Thr339Ile)
|
|
|
|
NM_000079.4(CHRNA1):c.1021C>T (p.Pro341Ser)
|
rs2105344415
|
|
|
NM_000079.4(CHRNA1):c.103T>G (p.Tyr35Asp)
|
rs1558914914
|
|
|
NM_000079.4(CHRNA1):c.1040C>G (p.Ser347Cys)
|
rs1683788656
|
|
|
NM_000079.4(CHRNA1):c.1047G>A (p.Met349Ile)
|
rs1683788450
|
|
|
NM_000079.4(CHRNA1):c.1048A>C (p.Lys350Gln)
|
rs1683788396
|
|
|
NM_000079.4(CHRNA1):c.1053A>C (p.Arg351Ser)
|
rs2105344397
|
|
|
NM_000079.4(CHRNA1):c.1055C>T (p.Pro352Leu)
|
|
|
|
NM_000079.4(CHRNA1):c.1058C>A (p.Ser353Tyr)
|
rs1574002549
|
|
|
NM_000079.4(CHRNA1):c.1088C>G (p.Thr363Arg)
|
rs146771663
|
|
|
NM_000079.4(CHRNA1):c.1123C>T (p.Pro375Ser)
|
|
|
|
NM_000079.4(CHRNA1):c.1130C>G (p.Pro377Arg)
|
|
|
|
NM_000079.4(CHRNA1):c.1151C>T (p.Ser384Phe)
|
|
|
|
NM_000079.4(CHRNA1):c.1189G>A (p.Glu397Lys)
|
|
|
|
NM_000079.4(CHRNA1):c.1196T>C (p.Ile399Thr)
|
|
|
|
NM_000079.4(CHRNA1):c.1221G>T (p.Lys407Asn)
|
rs1291588996
|
|
|
NM_000079.4(CHRNA1):c.1231G>A (p.Glu411Lys)
|
|
|
|
NM_000079.4(CHRNA1):c.1243-3C>T
|
rs1574002055
|
|
|
NM_000079.4(CHRNA1):c.1262A>G (p.Tyr421Cys)
|
|
|
|
NM_000079.4(CHRNA1):c.1267G>A (p.Ala423Thr)
|
|
|
|
NM_000079.4(CHRNA1):c.1282C>A (p.His428Asn)
|
|
|
|
NM_000079.4(CHRNA1):c.1307T>C (p.Leu436Pro)
|
|
|
|
NM_000079.4(CHRNA1):c.1334T>A (p.Val445Glu)
|
rs1304235259
|
|
|
NM_000079.4(CHRNA1):c.1343G>A (p.Gly448Asp)
|
|
|
|
NM_000079.4(CHRNA1):c.1345C>T (p.Arg449Ter)
|
rs1345496434
|
|
|
NM_000079.4(CHRNA1):c.1348C>T (p.Leu450Phe)
|
|
|
|
NM_000079.4(CHRNA1):c.136C>G (p.Arg46Gly)
|
|
|
|
NM_000079.4(CHRNA1):c.136C>T (p.Arg46Cys)
|
|
|
|
NM_000079.4(CHRNA1):c.13C>T (p.Pro5Ser)
|
rs567683036
|
|
|
NM_000079.4(CHRNA1):c.14C>G (p.Pro5Arg)
|
|
|
|
NM_000079.4(CHRNA1):c.150G>T (p.Glu50Asp)
|
|
|
|
NM_000079.4(CHRNA1):c.155C>T (p.Thr52Ile)
|
|
|
|
NM_000079.4(CHRNA1):c.181A>C (p.Ile61Leu)
|
rs1574011516
|
|
|
NM_000079.4(CHRNA1):c.189+4A>T
|
rs1684049743
|
|
|
NM_000079.4(CHRNA1):c.196G>A (p.Val66Ile)
|
|
|
|
NM_000079.4(CHRNA1):c.218A>C (p.Asn73Thr)
|
rs141121555
|
|
|
NM_000079.4(CHRNA1):c.23T>C (p.Leu8Pro)
|
|
|
|
NM_000079.4(CHRNA1):c.271G>A (p.Asp91Asn)
|
rs1684008469
|
|
|
NM_000079.4(CHRNA1):c.273C>G (p.Asp91Glu)
|
rs1684008402
|
|
|
NM_000079.4(CHRNA1):c.274T>A (p.Tyr92Asn)
|
|
|
|
NM_000079.4(CHRNA1):c.280G>A (p.Gly94Ser)
|
rs199470444
|
|
|
NM_000079.4(CHRNA1):c.283G>A (p.Val95Met)
|
rs757698567
|
|
|
NM_000079.4(CHRNA1):c.284T>A (p.Val95Glu)
|
|
|
|
NM_000079.4(CHRNA1):c.298A>T (p.Ile100Phe)
|
rs752761320
|
|
|
NM_000079.4(CHRNA1):c.310A>G (p.Lys104Glu)
|
|
|
|
NM_000079.4(CHRNA1):c.320G>T (p.Arg107Leu)
|
rs376844505
|
|
|
NM_000079.4(CHRNA1):c.345-3T>C
|
|
|
|
NM_000079.4(CHRNA1):c.345-7A>G
|
rs759145005
|
|
|
NM_000079.4(CHRNA1):c.348A>C (p.Ala116=)
|
|
|
|
NM_000079.4(CHRNA1):c.357C>G (p.Asp119Glu)
|
rs773509048
|
|
|
NM_000079.4(CHRNA1):c.361G>A (p.Ala121Thr)
|
|
|
|
NM_000079.4(CHRNA1):c.376A>G (p.Thr126Ala)
|
|
|
|
NM_000079.4(CHRNA1):c.383T>G (p.Val128Gly)
|
rs1553469444
|
|
|
NM_000079.4(CHRNA1):c.416C>T (p.Thr139Ile)
|
|
|
|
NM_000079.4(CHRNA1):c.419C>T (p.Pro140Leu)
|
rs1486937748
|
|
|
NM_000079.4(CHRNA1):c.424G>T (p.Ala142Ser)
|
|
|
|
NM_000079.4(CHRNA1):c.431T>C (p.Phe144Ser)
|
|
|
|
NM_000079.4(CHRNA1):c.435A>T (p.Lys145Asn)
|
|
|
|
NM_000079.4(CHRNA1):c.44-5C>G
|
rs2105352241
|
|
|
NM_000079.4(CHRNA1):c.451A>G (p.Ile151Val)
|
|
|
|
NM_000079.4(CHRNA1):c.451A>T (p.Ile151Phe)
|
rs560121316
|
|
|
NM_000079.4(CHRNA1):c.460C>T (p.His154Tyr)
|
rs1161547381
|
|
|
NM_000079.4(CHRNA1):c.463T>C (p.Phe155Leu)
|
|
|
|
NM_000079.4(CHRNA1):c.484T>A (p.Cys162Ser)
|
|
|
|
NM_000079.4(CHRNA1):c.484T>C (p.Cys162Arg)
|
rs773556274
|
|
|
NM_000079.4(CHRNA1):c.52G>A (p.Val18Ile)
|
rs202221890
|
|
|
NM_000079.4(CHRNA1):c.52G>C (p.Val18Leu)
|
rs202221890
|
|
|
NM_000079.4(CHRNA1):c.530C>A (p.Ala177Asp)
|
rs1487449348
|
|
|
NM_000079.4(CHRNA1):c.530C>T (p.Ala177Val)
|
|
|
|
NM_000079.4(CHRNA1):c.540G>A (p.Pro180=)
|
|
|
|
NM_000079.4(CHRNA1):c.548A>C (p.Asp183Ala)
|
rs1444098674
|
|
|
NM_000079.4(CHRNA1):c.548A>T (p.Asp183Val)
|
rs1444098674
|
|
|
NM_000079.4(CHRNA1):c.556G>C (p.Asp186His)
|
|
|
|
NM_000079.4(CHRNA1):c.556G>T (p.Asp186Tyr)
|
|
|
|
NM_000079.4(CHRNA1):c.562A>C (p.Ser188Arg)
|
rs1683909326
|
|
|
NM_000079.4(CHRNA1):c.581G>A (p.Gly194Glu)
|
|
|
|
NM_000079.4(CHRNA1):c.604C>T (p.Arg202Trp)
|
|
|
|
NM_000079.4(CHRNA1):c.640C>T (p.Pro214Ser)
|
rs1574006591
|
|
|
NM_000079.4(CHRNA1):c.653A>C (p.Tyr218Ser)
|
rs1574006535
|
|
|
NM_000079.4(CHRNA1):c.661A>G (p.Ile221Val)
|
|
|
|
NM_000079.4(CHRNA1):c.686G>A (p.Arg229His)
|
rs137852809
|
|
|
NM_000079.4(CHRNA1):c.686G>T (p.Arg229Leu)
|
rs137852809
|
|
|
NM_000079.4(CHRNA1):c.705C>A (p.Ile235=)
|
rs143252724
|
|
|
NM_000079.4(CHRNA1):c.70G>A (p.Glu24Lys)
|
|
|
|
NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe)
|
rs483353046
|
|
|
NM_000079.4(CHRNA1):c.745A>C (p.Thr249Pro)
|
rs1683900619
|
|
|
NM_000079.4(CHRNA1):c.746C>A (p.Thr249Asn)
|
|
|
|
NM_000079.4(CHRNA1):c.746C>G (p.Thr249Ser)
|
rs770040016
|
|
|
NM_000079.4(CHRNA1):c.769A>G (p.Thr257Ala)
|
rs1558911687
|
|
|
NM_000079.4(CHRNA1):c.778+4G>T
|
|
|
|
NM_000079.4(CHRNA1):c.788T>C (p.Met263Thr)
|
|
|
|
NM_000079.4(CHRNA1):c.7C>T (p.Pro3Ser)
|
rs1286101751
|
|
|
NM_000079.4(CHRNA1):c.802T>C (p.Ser268Pro)
|
rs1683819520
|
|
|
NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe)
|
rs137852803
|
|
|
NM_000079.4(CHRNA1):c.811C>A (p.Leu271Met)
|
|
|
|
NM_000079.4(CHRNA1):c.824T>C (p.Val275Ala)
|
rs2105345399
|
|
|
NM_000079.4(CHRNA1):c.827T>C (p.Phe276Ser)
|
|
|
|
NM_000079.4(CHRNA1):c.860C>G (p.Thr287Arg)
|
|
|
|
NM_000079.4(CHRNA1):c.874C>T (p.Pro292Ser)
|
|
|
|
NM_000079.4(CHRNA1):c.878T>C (p.Leu293Ser)
|
rs2105345351
|
|
|
NM_000079.4(CHRNA1):c.887A>G (p.Lys296Arg)
|
|
|
|
NM_000079.4(CHRNA1):c.893T>C (p.Met298Thr)
|
rs1574003598
|
|
|
NM_000079.4(CHRNA1):c.901A>G (p.Thr301Ala)
|
rs1683816643
|
|
|
NM_000079.4(CHRNA1):c.902C>A (p.Thr301Asn)
|
rs2105345315
|
|
|
NM_000079.4(CHRNA1):c.905T>A (p.Met302Lys)
|
rs2105345309
|
|
|
NM_000079.4(CHRNA1):c.923C>T (p.Ser308Phe)
|
rs1553469062
|
|
|
NM_000079.4(CHRNA1):c.925A>C (p.Ile309Leu)
|
|
|
|
NM_000079.4(CHRNA1):c.943G>A (p.Val315Ile)
|
|
|
|
NM_000079.4(CHRNA1):c.978T>A (p.His326Gln)
|
rs1574003456
|
|
|
NM_000079.4(CHRNA1):c.984G>A (p.Met328Ile)
|
rs2105345213
|
|
|
NM_000079.4(CHRNA1):c.989A>G (p.Asn330Ser)
|
|
|
|
NM_000079.4(CHRNA1):c.997C>G (p.Arg333Gly)
|
rs374391312
|
|
|
NM_000079.4(CHRNA1):c.998G>A (p.Arg333Gln)
|
|
|
|
NM_000135.4(FANCA):c.1000C>G (p.Leu334Val)
|
|
|
|
NM_000135.4(FANCA):c.1006+6C>A
|
|
|
|
NM_000135.4(FANCA):c.1006+6C>T
|
|
|
|
NM_000135.4(FANCA):c.1007-2dup
|
rs2143534850
|
|
|
NM_000135.4(FANCA):c.1007-3C>A
|
|
|
|
NM_000135.4(FANCA):c.1012G>C (p.Asp338His)
|
|
|
|
NM_000135.4(FANCA):c.1029G>C (p.Gln343His)
|
|
|
|
NM_000135.4(FANCA):c.1033G>A (p.Glu345Lys)
|
rs758168558
|
|
|
NM_000135.4(FANCA):c.1046C>A (p.Ala349Glu)
|
rs142620413
|
|
|
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu)
|
rs199967286
|
|
|
NM_000135.4(FANCA):c.1057C>G (p.Pro353Ala)
|
rs1449343629
|
|
|
NM_000135.4(FANCA):c.1063C>A (p.Leu355Ile)
|
|
|
|
NM_000135.4(FANCA):c.1066A>T (p.Thr356Ser)
|
|
|
|
NM_000135.4(FANCA):c.106_108del (p.Asn36del)
|
rs1598202748
|
|
|
NM_000135.4(FANCA):c.1079G>A (p.Arg360His)
|
|
|
|
NM_000135.4(FANCA):c.1082G>C (p.Arg361Thr)
|
|
|
|
NM_000135.4(FANCA):c.1083+5G>A
|
rs1412210234
|
|
|
NM_000135.4(FANCA):c.1083G>A (p.Arg361=)
|
rs2143534230
|
|
|
NM_000135.4(FANCA):c.1084-5T>G
|
|
|
|
NM_000135.4(FANCA):c.1084C>G (p.Leu362Val)
|
rs2040094709
|
|
|
NM_000135.4(FANCA):c.1093A>G (p.Met365Val)
|
rs2143530760
|
|
|
NM_000135.4(FANCA):c.1094T>G (p.Met365Arg)
|
rs2040094424
|
|
|
NM_000135.4(FANCA):c.1096C>G (p.Leu366Val)
|
|
|
|
NM_000135.4(FANCA):c.1097T>C (p.Leu366Pro)
|
rs2143530711
|
|
|
NM_000135.4(FANCA):c.1098G>C (p.Leu366=)
|
|
|
|
NM_000135.4(FANCA):c.1102G>A (p.Ala368Thr)
|
rs1598152904
|
|
|
NM_000135.4(FANCA):c.1112T>C (p.Leu371Ser)
|
|
|
|
NM_000135.4(FANCA):c.1115T>C (p.Val372Ala)
|
rs2040093870
|
|
|
NM_000135.4(FANCA):c.1123T>A (p.Leu375Met)
|
rs2040093515
|
|
|
NM_000135.4(FANCA):c.1126C>G (p.Gln376Glu)
|
rs2040093330
|
|
|
NM_000135.4(FANCA):c.1127A>G (p.Gln376Arg)
|
rs2143530391
|
|
|
NM_000135.4(FANCA):c.113A>C (p.Glu38Ala)
|
|
|
|
NM_000135.4(FANCA):c.1144C>G (p.Gln382Glu)
|
rs769718381
|
|
|
NM_000135.4(FANCA):c.1145A>G (p.Gln382Arg)
|
rs747766198
|
|
|
NM_000135.4(FANCA):c.1150G>A (p.Val384Ile)
|
rs751071791
|
|
|
NM_000135.4(FANCA):c.1153C>G (p.His385Asp)
|
|
|
|
NM_000135.4(FANCA):c.1154A>G (p.His385Arg)
|
|
|
|
NM_000135.4(FANCA):c.1161G>C (p.Gln387His)
|
|
|
|
NM_000135.4(FANCA):c.1168C>A (p.Leu390Ile)
|
|
|
|
NM_000135.4(FANCA):c.116G>C (p.Arg39Thr)
|
rs151089298
|
|
|
NM_000135.4(FANCA):c.1183G>A (p.Ala395Thr)
|
rs202062504
|
|
|
NM_000135.4(FANCA):c.1186C>G (p.Leu396Val)
|
|
|
|
NM_000135.4(FANCA):c.1195T>C (p.Cys399Arg)
|
rs2040090935
|
|
|
NM_000135.4(FANCA):c.1198T>C (p.Phe400Leu)
|
rs1360355945
|
|
|
NM_000135.4(FANCA):c.119C>T (p.Ala40Val)
|
rs563060518
|
|
|
NM_000135.4(FANCA):c.11C>T (p.Ser4Leu)
|
|
|
|
NM_000135.4(FANCA):c.1208C>T (p.Ala403Val)
|
|
|
|
NM_000135.4(FANCA):c.1216C>A (p.Leu406Met)
|
|
|
|
NM_000135.4(FANCA):c.121C>G (p.Gln41Glu)
|
rs764533094
|
|
|
NM_000135.4(FANCA):c.1226-13G>A
|
rs377159744
|
|
|
NM_000135.4(FANCA):c.1245G>A (p.Met415Ile)
|
rs1555561439
|
|
|
NM_000135.4(FANCA):c.1255T>G (p.Phe419Val)
|
rs2143526434
|
|
|
NM_000135.4(FANCA):c.1256T>C (p.Phe419Ser)
|
|
|
|
NM_000135.4(FANCA):c.1257C>G (p.Phe419Leu)
|
rs764140346
|
|
|
NM_000135.4(FANCA):c.1268A>G (p.Gln423Arg)
|
|
|
|
NM_000135.4(FANCA):c.1276A>G (p.Ser426Gly)
|
rs985078327
|
|
|
NM_000135.4(FANCA):c.1277G>T (p.Ser426Ile)
|
|
|
|
NM_000135.4(FANCA):c.1281G>A (p.Met427Ile)
|
rs747322973
|
|
|
NM_000135.4(FANCA):c.1282G>A (p.Val428Ile)
|
rs1026686587
|
|
|
NM_000135.4(FANCA):c.1283T>C (p.Val428Ala)
|
|
|
|
NM_000135.4(FANCA):c.1285A>C (p.Thr429Pro)
|
|
|
|
NM_000135.4(FANCA):c.1286C>G (p.Thr429Ser)
|
|
|
|
NM_000135.4(FANCA):c.1286C>T (p.Thr429Ile)
|
rs1598151907
|
|
|
NM_000135.4(FANCA):c.1289C>G (p.Ala430Gly)
|
rs772567344
|
|
|
NM_000135.4(FANCA):c.1298T>C (p.Val433Ala)
|
rs1015816469
|
|
|
NM_000135.4(FANCA):c.1300G>A (p.Val434Met)
|
|
|
|
NM_000135.4(FANCA):c.1315C>A (p.Leu439Met)
|
rs1307948857
|
|
|
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys)
|
rs367733447
|
|
|
NM_000135.4(FANCA):c.1330G>A (p.Ala444Thr)
|
rs771047848
|
|
|
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His)
|
rs1567635573
|
|
|
NM_000135.4(FANCA):c.1345G>A (p.Ala449Thr)
|
rs2040073158
|
|
|
NM_000135.4(FANCA):c.1348G>C (p.Asp450His)
|
|
|
|
NM_000135.4(FANCA):c.1348G>T (p.Asp450Tyr)
|
rs1262122499
|
|
|
NM_000135.4(FANCA):c.1349A>T (p.Asp450Val)
|
rs1213289620
|
|
|
NM_000135.4(FANCA):c.1351T>G (p.Trp451Gly)
|
rs2040072996
|
|
|
NM_000135.4(FANCA):c.1358A>G (p.Lys453Arg)
|
rs139248966
|
|
|
NM_000135.4(FANCA):c.1359+3A>G
|
|
|
|
NM_000135.4(FANCA):c.1359+4A>T
|
rs35476732
|
|
|
NM_000135.4(FANCA):c.1360-64_1360del
|
rs2143477254
|
|
|
NM_000135.4(FANCA):c.1364C>A (p.Ser455Tyr)
|
|
|
|
NM_000135.4(FANCA):c.137C>T (p.Ser46Leu)
|
rs2041098068
|
|
|
NM_000135.4(FANCA):c.1388A>G (p.His463Arg)
|
rs2039847321
|
|
|
NM_000135.4(FANCA):c.1394G>C (p.Cys465Ser)
|
rs2039847109
|
|
|
NM_000135.4(FANCA):c.1399A>G (p.Lys467Glu)
|
|
|
|
NM_000135.4(FANCA):c.139G>A (p.Ala47Thr)
|
rs1190475225
|
|
|
NM_000135.4(FANCA):c.139G>C (p.Ala47Pro)
|
|
|
|
NM_000135.4(FANCA):c.1400A>G (p.Lys467Arg)
|
rs2143476944
|
|
|
NM_000135.4(FANCA):c.1403A>C (p.Lys468Thr)
|
rs1598140745
|
|
|
NM_000135.4(FANCA):c.1403A>G (p.Lys468Arg)
|
rs1598140745
|
|
|
NM_000135.4(FANCA):c.1405G>T (p.Ala469Ser)
|
rs1236726652
|
|
|
NM_000135.4(FANCA):c.1406C>T (p.Ala469Val)
|
rs2039846606
|
|
|
NM_000135.4(FANCA):c.1408C>A (p.Leu470Met)
|
rs752092543
|
|
|
NM_000135.4(FANCA):c.1408C>G (p.Leu470Val)
|
rs752092543
|
|
|
NM_000135.4(FANCA):c.1418T>C (p.Leu473Pro)
|
|
|
|
NM_000135.4(FANCA):c.1428C>G (p.Phe476Leu)
|
|
|
|
NM_000135.4(FANCA):c.1438C>T (p.Leu480Phe)
|
rs1444498671
|
|
|
NM_000135.4(FANCA):c.1439T>G (p.Leu480Arg)
|
rs2143476647
|
|
|
NM_000135.4(FANCA):c.1441G>A (p.Val481Met)
|
|
|
|
NM_000135.4(FANCA):c.1444C>T (p.Pro482Ser)
|
|
|
|
NM_000135.4(FANCA):c.1454C>T (p.Ser485Phe)
|
rs760790832
|
|
|
NM_000135.4(FANCA):c.1456C>A (p.Pro486Thr)
|
|
|
|
NM_000135.4(FANCA):c.1456C>T (p.Pro486Ser)
|
|
|
|
NM_000135.4(FANCA):c.1459C>G (p.Arg487Gly)
|
rs143083764
|
|
|
NM_000135.4(FANCA):c.145C>A (p.Arg49Ser)
|
|
|
|
NM_000135.4(FANCA):c.145C>G (p.Arg49Gly)
|
rs929925295
|
|
|
NM_000135.4(FANCA):c.146G>A (p.Arg49His)
|
|
|
|
NM_000135.4(FANCA):c.1470+6A>G
|
|
|
|
NM_000135.4(FANCA):c.1470G>C (p.Gln490His)
|
rs2039844218
|
|
|
NM_000135.4(FANCA):c.1471-7T>A
|
|
|
|
NM_000135.4(FANCA):c.1475A>T (p.His492Leu)
|
rs925457555
|
|
|
NM_000135.4(FANCA):c.1483C>G (p.His495Asp)
|
|
|
|
NM_000135.4(FANCA):c.1483C>T (p.His495Tyr)
|
|
|
|
NM_000135.4(FANCA):c.1492C>G (p.Leu498Val)
|
rs1486117630
|
|
|
NM_000135.4(FANCA):c.1498C>G (p.Pro500Ala)
|
rs776371246
|
|
|
NM_000135.4(FANCA):c.149T>C (p.Leu50Pro)
|
rs2143723758
|
|
|
NM_000135.4(FANCA):c.1501_1502insTGGTTCCCA (p.Gly501delinsValValProSer)
|
rs878853661
|
|
|
NM_000135.4(FANCA):c.1504A>G (p.Lys502Glu)
|
|
|
|
NM_000135.4(FANCA):c.1511G>A (p.Arg504His)
|
rs778045457
|
|
|
NM_000135.4(FANCA):c.1511G>T (p.Arg504Leu)
|
|
|
|
NM_000135.4(FANCA):c.1527C>G (p.Asp509Glu)
|
rs755009951
|
|
|
NM_000135.4(FANCA):c.1556C>G (p.Ala519Gly)
|
|
|
|
NM_000135.4(FANCA):c.1559A>C (p.Asp520Ala)
|
|
|
|
NM_000135.4(FANCA):c.155G>A (p.Arg52Gln)
|
|
|
|
NM_000135.4(FANCA):c.1560C>G (p.Asp520Glu)
|
rs1486566215
|
|
|
NM_000135.4(FANCA):c.1561C>T (p.Leu521Phe)
|
|
|
|
NM_000135.4(FANCA):c.1564A>G (p.Lys522Glu)
|
rs1555554630
|
|
|
NM_000135.4(FANCA):c.1566+2C>T
|
rs1316950815
|
|
|
NM_000135.4(FANCA):c.1566+5G>A
|
rs760087031
|
|
|
NM_000135.4(FANCA):c.1567G>T (p.Val523Phe)
|
|
|
|
NM_000135.4(FANCA):c.1570T>C (p.Ser524Pro)
|
|
|
|
NM_000135.4(FANCA):c.1571C>G (p.Ser524Cys)
|
rs753719658
|
|
|
NM_000135.4(FANCA):c.1573A>T (p.Ile525Leu)
|
rs755925068
|
|
|
NM_000135.4(FANCA):c.1588C>G (p.Leu530Val)
|
rs1567628801
|
|
|
NM_000135.4(FANCA):c.1588C>T (p.Leu530Phe)
|
rs1567628801
|
|
|
NM_000135.4(FANCA):c.1594G>C (p.Glu532Gln)
|
rs374490484
|
|
|
NM_000135.4(FANCA):c.1597G>T (p.Asp533Tyr)
|
|
|
|
NM_000135.4(FANCA):c.15G>C (p.Trp5Cys)
|
rs2143731999
|
|
|
NM_000135.4(FANCA):c.1606T>G (p.Ser536Ala)
|
|
|
|
NM_000135.4(FANCA):c.1607C>T (p.Ser536Leu)
|
|
|
|
NM_000135.4(FANCA):c.1618A>G (p.Ile540Val)
|
|
|
|
NM_000135.4(FANCA):c.1624G>A (p.Glu542Lys)
|
|
|
|
NM_000135.4(FANCA):c.1626+5T>A
|
rs2143458841
|
|
|
NM_000135.4(FANCA):c.1626+5T>C
|
|
|
|
NM_000135.4(FANCA):c.1626+6G>A
|
|
|
|
NM_000135.4(FANCA):c.1626G>A (p.Glu542=)
|
rs2143458860
|
|
|
NM_000135.4(FANCA):c.1627-5A>G
|
rs2039645024
|
|
|
NM_000135.4(FANCA):c.1627C>T (p.Pro543Ser)
|
rs763074159
|
|
|
NM_000135.4(FANCA):c.1628C>T (p.Pro543Leu)
|
rs2039644737
|
|
|
NM_000135.4(FANCA):c.1633A>G (p.Ser545Gly)
|
|
|
|
NM_000135.4(FANCA):c.1634G>C (p.Ser545Thr)
|
|
|
|
NM_000135.4(FANCA):c.1639G>C (p.Ala547Pro)
|
rs2039644384
|
|
|
NM_000135.4(FANCA):c.1642C>G (p.Leu548Val)
|
|
|
|
NM_000135.4(FANCA):c.1642C>T (p.Leu548Phe)
|
|
|
|
NM_000135.4(FANCA):c.1647G>C (p.Gln549His)
|
|
|
|
NM_000135.4(FANCA):c.1651G>A (p.Val551Ile)
|
rs2039643856
|
|
|
NM_000135.4(FANCA):c.1660G>A (p.Ala554Thr)
|
rs2143432789
|
|
|
NM_000135.4(FANCA):c.1665C>G (p.Ile555Met)
|
|
|
|
NM_000135.4(FANCA):c.166G>A (p.Asp56Asn)
|
rs1360481164
|
|
|
NM_000135.4(FANCA):c.1679A>C (p.His560Pro)
|
rs759940726
|
|
|
NM_000135.4(FANCA):c.1679A>G (p.His560Arg)
|
|
|
|
NM_000135.4(FANCA):c.167A>C (p.Asp56Ala)
|
|
|
|
NM_000135.4(FANCA):c.1681A>T (p.Thr561Ser)
|
rs2143432620
|
|
|
NM_000135.4(FANCA):c.1682C>G (p.Thr561Arg)
|
rs148154682
|
|
|
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met)
|
rs148154682
|
|
|
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del)
|
rs1060501881
|
|
|
NM_000135.4(FANCA):c.1690A>G (p.Ile564Val)
|
|
|
|
NM_000135.4(FANCA):c.1691T>C (p.Ile564Thr)
|
rs769842591
|
|
|
NM_000135.4(FANCA):c.1699A>G (p.Thr567Ala)
|
|
|
|
NM_000135.4(FANCA):c.1700C>G (p.Thr567Ser)
|
rs775083851
|
|
|
NM_000135.4(FANCA):c.1702G>C (p.Val568Leu)
|
rs778754162
|
|
|
NM_000135.4(FANCA):c.1705A>G (p.Met569Val)
|
|
|
|
NM_000135.4(FANCA):c.1709A>G (p.Glu570Gly)
|
rs2039642209
|
|
|
NM_000135.4(FANCA):c.1712C>T (p.Ala571Val)
|
|
|
|
NM_000135.4(FANCA):c.1715+4G>A
|
|
|
|
NM_000135.4(FANCA):c.1716-6T>C
|
rs2143424754
|
|
|
NM_000135.4(FANCA):c.1727G>C (p.Arg576Thr)
|
rs1047794894
|
|
|
NM_000135.4(FANCA):c.1733A>G (p.Tyr578Cys)
|
rs2143424595
|
|
|
NM_000135.4(FANCA):c.1736A>G (p.Tyr579Cys)
|
|
|
|
NM_000135.4(FANCA):c.1739T>G (p.Val580Gly)
|
rs2143424514
|
|
|
NM_000135.4(FANCA):c.1750C>G (p.Leu584Val)
|
rs145459403
|
|
|
NM_000135.4(FANCA):c.1757C>T (p.Ala586Val)
|
|
|
|
NM_000135.4(FANCA):c.1769C>G (p.Pro590Arg)
|
rs757637315
|
|
|
NM_000135.4(FANCA):c.1776+17A>G
|
rs2143423790
|
|
|
NM_000135.4(FANCA):c.1776+5G>A
|
|
|
|
NM_000135.4(FANCA):c.1777-7C>A
|
|
|
|
NM_000135.4(FANCA):c.1780C>T (p.Pro594Ser)
|
rs2039605850
|
|
|
NM_000135.4(FANCA):c.1786G>A (p.Val596Ile)
|
rs1391415619
|
|
|
NM_000135.4(FANCA):c.1789C>T (p.Pro597Ser)
|
|
|
|
NM_000135.4(FANCA):c.1794C>G (p.Asp598Glu)
|
rs2143422796
|
|
|
NM_000135.4(FANCA):c.1796C>G (p.Ser599Cys)
|
rs562319781
|
|
|
NM_000135.4(FANCA):c.1799G>C (p.Arg600Pro)
|
rs775917892
|
|
|
NM_000135.4(FANCA):c.17T>G (p.Val6Gly)
|
rs1800282
|
|
|
NM_000135.4(FANCA):c.1804G>T (p.Ala602Ser)
|
|
|
|
NM_000135.4(FANCA):c.1805C>G (p.Ala602Gly)
|
rs374968669
|
|
|
NM_000135.4(FANCA):c.1805C>T (p.Ala602Val)
|
rs374968669
|
|
|
NM_000135.4(FANCA):c.1809_1811dup (p.Ile604dup)
|
rs2039604604
|
|
|
NM_000135.4(FANCA):c.1810A>G (p.Ile604Val)
|
rs2039604673
|
|
|
NM_000135.4(FANCA):c.1816T>G (p.Ser606Ala)
|
rs770164503
|
|
|
NM_000135.4(FANCA):c.1826+3A>G
|
rs925559826
|
|
|
NM_000135.4(FANCA):c.1826+4T>A
|
rs979666807
|
|
|
NM_000135.4(FANCA):c.1826+4T>G
|
rs979666807
|
|
|
NM_000135.4(FANCA):c.1826+5G>A
|
|
|
|
NM_000135.4(FANCA):c.1826+6C>T
|
rs748528553
|
|
|
NM_000135.4(FANCA):c.1827-3C>G
|
rs772236777
|
|
|
NM_000135.4(FANCA):c.1829C>T (p.Ala610Val)
|
rs1598120974
|
|
|
NM_000135.4(FANCA):c.182T>G (p.Leu61Trp)
|
|
|
|
NM_000135.4(FANCA):c.1834A>G (p.Lys612Glu)
|
rs1433333223
|
|
|
NM_000135.4(FANCA):c.1840C>T (p.Pro614Ser)
|
|
|
|
NM_000135.4(FANCA):c.1843C>T (p.Pro615Ser)
|
rs1567623107
|
|
|
NM_000135.4(FANCA):c.1844C>T (p.Pro615Leu)
|
|
|
|
NM_000135.4(FANCA):c.1847C>T (p.Ser616Phe)
|
|
|
|
NM_000135.4(FANCA):c.1849C>G (p.Leu617Val)
|
|
|
|
NM_000135.4(FANCA):c.184C>G (p.Leu62Val)
|
rs2041094921
|
|
|
NM_000135.4(FANCA):c.1856C>A (p.Ser619Tyr)
|
rs2039480405
|
|
|
NM_000135.4(FANCA):c.1868A>G (p.Gln623Arg)
|
|
|
|
NM_000135.4(FANCA):c.186T>A (p.Leu62=)
|
rs1555580352
|
|
|
NM_000135.4(FANCA):c.1870G>T (p.Ala624Ser)
|
rs1403464170
|
|
|
NM_000135.4(FANCA):c.1871C>T (p.Ala624Val)
|
rs146491000
|
|
|
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr)
|
rs139235751
|
|
|
NM_000135.4(FANCA):c.1876T>C (p.Ser626Pro)
|
|
|
|
NM_000135.4(FANCA):c.1877C>T (p.Ser626Phe)
|
rs769311485
|
|
|
NM_000135.4(FANCA):c.1879G>C (p.Ala627Pro)
|
|
|
|
NM_000135.4(FANCA):c.188A>C (p.Glu63Ala)
|
rs1567659053
|
|
|
NM_000135.4(FANCA):c.189+3A>G
|
|
|
|
NM_000135.4(FANCA):c.189+3A>T
|
rs2143723295
|
|
|
NM_000135.4(FANCA):c.1890G>C (p.Glu630Asp)
|
|
|
|
NM_000135.4(FANCA):c.1891A>G (p.Lys631Glu)
|
|
|
|
NM_000135.4(FANCA):c.1900+6T>C
|
|
|
|
NM_000135.4(FANCA):c.1901-3C>T
|
|
|
|
NM_000135.4(FANCA):c.1903G>A (p.Ala635Thr)
|
|
|
|
NM_000135.4(FANCA):c.1904C>A (p.Ala635Glu)
|
rs142217479
|
|
|
NM_000135.4(FANCA):c.1907C>T (p.Ala636Val)
|
rs2143367748
|
|
|
NM_000135.4(FANCA):c.1913G>A (p.Gly638Glu)
|
|
|
|
NM_000135.4(FANCA):c.1921G>A (p.Ala641Thr)
|
rs867961005
|
|
|
NM_000135.4(FANCA):c.1926A>C (p.Glu642Asp)
|
|
|
|
NM_000135.4(FANCA):c.1931A>G (p.Asn644Ser)
|
rs924548467
|
|
|
NM_000135.4(FANCA):c.1932C>G (p.Asn644Lys)
|
rs1598116392
|
|
|
NM_000135.4(FANCA):c.1934C>G (p.Ser645Cys)
|
|
|
|
NM_000135.4(FANCA):c.1940A>G (p.Glu647Gly)
|
rs1374330952
|
|
|
NM_000135.4(FANCA):c.1942G>A (p.Glu648Lys)
|
rs1427276212
|
|
|
NM_000135.4(FANCA):c.1945C>T (p.Pro649Ser)
|
|
|
|
NM_000135.4(FANCA):c.1949T>A (p.Leu650Gln)
|
|
|
|
NM_000135.4(FANCA):c.195A>C (p.Glu65Asp)
|
rs2041029016
|
|
|
NM_000135.4(FANCA):c.1960A>G (p.Thr654Ala)
|
rs1555549412
|
|
|
NM_000135.4(FANCA):c.1966G>A (p.Ala656Thr)
|
|
|
|
NM_000135.4(FANCA):c.196G>T (p.Gly66Cys)
|
|
|
|
NM_000135.4(FANCA):c.197G>A (p.Gly66Asp)
|
|
|
|
NM_000135.4(FANCA):c.1985C>T (p.Ala662Val)
|
|
|
|
NM_000135.4(FANCA):c.1991T>G (p.Met664Arg)
|
|
|
|
NM_000135.4(FANCA):c.1999C>T (p.Pro667Ser)
|
rs147300317
|
|
|
NM_000135.4(FANCA):c.19C>A (p.Pro7Thr)
|
|
|
|
NM_000135.4(FANCA):c.19C>G (p.Pro7Ala)
|
rs780667753
|
|
|
NM_000135.4(FANCA):c.2000C>A (p.Pro667His)
|
rs755293596
|
|
|
NM_000135.4(FANCA):c.2000C>G (p.Pro667Arg)
|
|
|
|
NM_000135.4(FANCA):c.2000C>T (p.Pro667Leu)
|
rs755293596
|
|
|
NM_000135.4(FANCA):c.2003G>T (p.Ser668Ile)
|
|
|
|
NM_000135.4(FANCA):c.2012A>T (p.Asp671Val)
|
|
|
|
NM_000135.4(FANCA):c.2014+5G>A
|
|
|
|
NM_000135.4(FANCA):c.2015-8del
|
rs1567619964
|
|
|
NM_000135.4(FANCA):c.2019A>G (p.Ile673Met)
|
|
|
|
NM_000135.4(FANCA):c.2023G>C (p.Ala675Pro)
|
rs752701423
|
|
|
NM_000135.4(FANCA):c.2028G>C (p.Gln676His)
|
rs2039336156
|
|
|
NM_000135.4(FANCA):c.203T>G (p.Leu68Arg)
|
|
|
|
NM_000135.4(FANCA):c.2050C>A (p.Leu684Met)
|
|
|
|
NM_000135.4(FANCA):c.2050C>G (p.Leu684Val)
|
rs1284083461
|
|
|
NM_000135.4(FANCA):c.2059G>A (p.Val687Ile)
|
|
|
|
NM_000135.4(FANCA):c.2060T>C (p.Val687Ala)
|
|
|
|
NM_000135.4(FANCA):c.2087G>A (p.Ser696Asn)
|
|
|
|
NM_000135.4(FANCA):c.2087G>T (p.Ser696Ile)
|
|
|
|
NM_000135.4(FANCA):c.2089G>C (p.Val697Leu)
|
rs376888740
|
|
|
NM_000135.4(FANCA):c.2090T>A (p.Val697Asp)
|
rs777863668
|
|
|
NM_000135.4(FANCA):c.2093A>C (p.Glu698Ala)
|
rs2143350667
|
|
|
NM_000135.4(FANCA):c.2095A>T (p.Ile699Leu)
|
|
|
|
NM_000135.4(FANCA):c.2096T>C (p.Ile699Thr)
|
rs752652496
|
|
|
NM_000135.4(FANCA):c.2098T>A (p.Ser700Thr)
|
rs767631694
|
|
|
NM_000135.4(FANCA):c.2098T>C (p.Ser700Pro)
|
rs767631694
|
|
|
NM_000135.4(FANCA):c.2099C>T (p.Ser700Leu)
|
|
|
|
NM_000135.4(FANCA):c.20C>A (p.Pro7Gln)
|
rs772712346
|
|
|
NM_000135.4(FANCA):c.20C>G (p.Pro7Arg)
|
rs772712346
|
|
|
NM_000135.4(FANCA):c.2110C>G (p.Leu704Val)
|
rs1555548507
|
|
|
NM_000135.4(FANCA):c.2118C>G (p.Ile706Met)
|
|
|
|
NM_000135.4(FANCA):c.2126C>G (p.Pro709Arg)
|
|
|
|
NM_000135.4(FANCA):c.2129G>T (p.Arg710Ile)
|
rs2039331440
|
|
|
NM_000135.4(FANCA):c.2130A>T (p.Arg710Ser)
|
rs2143350061
|
|
|
NM_000135.4(FANCA):c.2132T>C (p.Leu711Pro)
|
rs2039331306
|
|
|
NM_000135.4(FANCA):c.2134G>A (p.Glu712Lys)
|
rs774565293
|
|
|
NM_000135.4(FANCA):c.213A>C (p.Lys71Asn)
|
|
|
|
NM_000135.4(FANCA):c.213A>T (p.Lys71Asn)
|
rs2041027459
|
|
|
NM_000135.4(FANCA):c.2140C>G (p.Arg714Gly)
|
rs200284845
|
|
|
NM_000135.4(FANCA):c.2143G>A (p.Glu715Lys)
|
|
|
|
NM_000135.4(FANCA):c.2144A>T (p.Glu715Val)
|
rs2039330928
|
|
|
NM_000135.4(FANCA):c.2146C>T (p.His716Tyr)
|
|
|
|
NM_000135.4(FANCA):c.2151+12G>T
|
|
|
|
NM_000135.4(FANCA):c.2151+4G>A
|
rs1598113342
|
|
|
NM_000135.4(FANCA):c.2151+4G>C
|
|
|
|
NM_000135.4(FANCA):c.2151+7_2151+8delinsTC
|
|
|
|
NM_000135.4(FANCA):c.2151G>A (p.Met717Ile)
|
rs1131660
|
|
|
NM_000135.4(FANCA):c.2152-6_2152-5del
|
|
|
|
NM_000135.4(FANCA):c.2162T>G (p.Leu721Arg)
|
|
|
|
NM_000135.4(FANCA):c.2164C>G (p.Leu722Val)
|
rs770314137
|
|
|
NM_000135.4(FANCA):c.2174C>G (p.Ser725Cys)
|
|
|
|
NM_000135.4(FANCA):c.2178C>G (p.Phe726Leu)
|
rs1163885123
|
|
|
NM_000135.4(FANCA):c.218C>T (p.Ser73Phe)
|
|
|
|
NM_000135.4(FANCA):c.2197G>A (p.Ala733Thr)
|
|
|
|
NM_000135.4(FANCA):c.2204G>A (p.Ser735Asn)
|
|
|
|
NM_000135.4(FANCA):c.2204G>T (p.Ser735Ile)
|
|
|
|
NM_000135.4(FANCA):c.2212C>A (p.Pro738Thr)
|
rs751015814
|
|
|
NM_000135.4(FANCA):c.2212C>G (p.Pro738Ala)
|
rs751015814
|
|
|
NM_000135.4(FANCA):c.2213C>A (p.Pro738His)
|
rs762333391
|
|
|
NM_000135.4(FANCA):c.2216C>G (p.Pro739Arg)
|
rs45441106
|
|
|
NM_000135.4(FANCA):c.2222+4A>G
|
|
|
|
NM_000135.4(FANCA):c.2222+5A>G
|
|
|
|
NM_000135.4(FANCA):c.2222+5A>T
|
|
|
|
NM_000135.4(FANCA):c.2223-3C>T
|
rs2039278966
|
|
|
NM_000135.4(FANCA):c.2223-4G>T
|
|
|
|
NM_000135.4(FANCA):c.2223-6C>G
|
rs759682612
|
|
|
NM_000135.4(FANCA):c.2227G>A (p.Gly743Ser)
|
|
|
|
NM_000135.4(FANCA):c.2239G>A (p.Ala747Thr)
|
rs931143821
|
|
|
NM_000135.4(FANCA):c.2257A>G (p.Met753Val)
|
rs757797015
|
|
|
NM_000135.4(FANCA):c.226A>G (p.Lys76Glu)
|
rs2143711335
|
|
|
NM_000135.4(FANCA):c.2275C>T (p.Pro759Ser)
|
|
|
|
NM_000135.4(FANCA):c.2284C>T (p.Leu762Phe)
|
|
|
|
NM_000135.4(FANCA):c.2285T>C (p.Leu762Pro)
|
|
|
|
NM_000135.4(FANCA):c.2288C>T (p.Thr763Ile)
|
|
|
|
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe)
|
rs917707717
|
|
|
NM_000135.4(FANCA):c.2316+6G>T
|
rs1399631313
|
|
|
NM_000135.4(FANCA):c.2318G>A (p.Gly773Asp)
|
rs2143333930
|
|
|
NM_000135.4(FANCA):c.2320C>T (p.Pro774Ser)
|
|
|
|
NM_000135.4(FANCA):c.2325C>G (p.Ser775Arg)
|
rs545765795
|
|
|
NM_000135.4(FANCA):c.2332G>A (p.Ala778Thr)
|
rs1242381795
|
|
|
NM_000135.4(FANCA):c.2341G>A (p.Val781Met)
|
rs1246628258
|
|
|
NM_000135.4(FANCA):c.2341G>T (p.Val781Leu)
|
rs1246628258
|
|
|
NM_000135.4(FANCA):c.2345T>G (p.Leu782Arg)
|
rs747315724
|
|
|
NM_000135.4(FANCA):c.2356G>T (p.Ala786Ser)
|
|
|
|
NM_000135.4(FANCA):c.2365G>A (p.Val789Met)
|
rs771698195
|
|
|
NM_000135.4(FANCA):c.2368C>G (p.His790Asp)
|
rs2039266002
|
|
|
NM_000135.4(FANCA):c.2368C>T (p.His790Tyr)
|
|
|
|
NM_000135.4(FANCA):c.2371C>G (p.Leu791Val)
|
|
|
|
NM_000135.4(FANCA):c.2395C>G (p.Pro799Ala)
|
rs762439008
|
|
|
NM_000135.4(FANCA):c.2399A>G (p.Glu800Gly)
|
rs2039264657
|
|
|
NM_000135.4(FANCA):c.2399A>T (p.Glu800Val)
|
rs2039264657
|
|
|
NM_000135.4(FANCA):c.239G>A (p.Cys80Tyr)
|
rs1043175440
|
|
|
NM_000135.4(FANCA):c.23A>T (p.Asn8Ile)
|
rs757468756
|
|
|
NM_000135.4(FANCA):c.2402T>A (p.Val801Glu)
|
rs772721300
|
|
|
NM_000135.4(FANCA):c.2414C>T (p.Pro805Leu)
|
rs1303230442
|
|
|
NM_000135.4(FANCA):c.2416C>T (p.Pro806Ser)
|
|
|
|
NM_000135.4(FANCA):c.2422C>G (p.Pro808Ala)
|
rs772367440
|
|
|
NM_000135.4(FANCA):c.2426G>T (p.Gly809Val)
|
|
|
|
NM_000135.4(FANCA):c.2428G>T (p.Ala810Ser)
|
rs1263882781
|
|
|
NM_000135.4(FANCA):c.2429C>G (p.Ala810Gly)
|
rs1486995764
|
|
|
NM_000135.4(FANCA):c.2432G>C (p.Gly811Ala)
|
|
|
|
NM_000135.4(FANCA):c.2443C>T (p.Pro815Ser)
|
|
|
|
NM_000135.4(FANCA):c.2444C>T (p.Pro815Leu)
|
|
|
|
NM_000135.4(FANCA):c.2447C>A (p.Ala816Glu)
|
|
|
|
NM_000135.4(FANCA):c.2449C>G (p.Leu817Val)
|
|
|
|
NM_000135.4(FANCA):c.2455G>C (p.Asp819His)
|
|
|
|
NM_000135.4(FANCA):c.245G>A (p.Ser82Asn)
|
|
|
|
NM_000135.4(FANCA):c.245G>C (p.Ser82Thr)
|
rs1459045387
|
|
|
NM_000135.4(FANCA):c.2477C>T (p.Thr826Met)
|
rs765888048
|
|
|
NM_000135.4(FANCA):c.2490G>T (p.Leu830Phe)
|
rs2039261142
|
|
|
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del)
|
rs1310756192
|
|
|
NM_000135.4(FANCA):c.24C>A (p.Asn8Lys)
|
|
|
|
NM_000135.4(FANCA):c.24_25delinsGG (p.Asn8_Ser9delinsLysAla)
|
|
|
|
NM_000135.4(FANCA):c.2505A>G (p.Lys835=)
|
rs1555546563
|
|
|
NM_000135.4(FANCA):c.2516C>G (p.Ala839Gly)
|
|
|
|
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly)
|
rs587778313
|
|
|
NM_000135.4(FANCA):c.2521A>G (p.Ile841Val)
|
|
|
|
NM_000135.4(FANCA):c.2525C>G (p.Ser842Cys)
|
|
|
|
NM_000135.4(FANCA):c.2528A>G (p.Tyr843Cys)
|
rs1567616244
|
|
|
NM_000135.4(FANCA):c.2531C>G (p.Ser844Cys)
|
|
|
|
NM_000135.4(FANCA):c.253G>A (p.Ala85Thr)
|
rs2143711037
|
|
|
NM_000135.4(FANCA):c.2540A>C (p.Lys847Thr)
|
|
|
|
NM_000135.4(FANCA):c.2549C>A (p.Ser850Tyr)
|
|
|
|
NM_000135.4(FANCA):c.254C>G (p.Ala85Gly)
|
|
|
|
NM_000135.4(FANCA):c.2558G>A (p.Arg853Gln)
|
rs753393669
|
|
|
NM_000135.4(FANCA):c.257A>G (p.Tyr86Cys)
|
|
|
|
NM_000135.4(FANCA):c.2584C>G (p.Pro862Ala)
|
|
|
|
NM_000135.4(FANCA):c.2587G>A (p.Gly863Ser)
|
rs2039157272
|
|
|
NM_000135.4(FANCA):c.2593A>G (p.Ile865Val)
|
rs878853662
|
|
|
NM_000135.4(FANCA):c.259G>C (p.Ala87Pro)
|
|
|
|
NM_000135.4(FANCA):c.25_26delinsCT (p.Ser9Leu)
|
rs2143731757
|
|
|
NM_000135.4(FANCA):c.2601+5G>T
|
|
|
|
NM_000135.4(FANCA):c.2601G>A (p.Lys867=)
|
rs746889340
|
|
|
NM_000135.4(FANCA):c.2601G>C (p.Lys867Asn)
|
rs746889340
|
|
|
NM_000135.4(FANCA):c.2601G>T (p.Lys867Asn)
|
rs746889340
|
|
|
NM_000135.4(FANCA):c.2602-12T>A
|
|
|
|
NM_000135.4(FANCA):c.2602-3C>G
|
rs2143289922
|
|
|
NM_000135.4(FANCA):c.2607G>C (p.Gln869His)
|
rs1555545583
|
|
|
NM_000135.4(FANCA):c.2614A>G (p.Met872Val)
|
|
|
|
NM_000135.4(FANCA):c.2620A>G (p.Arg874Gly)
|
|
|
|
NM_000135.4(FANCA):c.2628C>G (p.Phe876Leu)
|
|
|
|
NM_000135.4(FANCA):c.2629T>A (p.Ser877Thr)
|
|
|
|
NM_000135.4(FANCA):c.2629T>C (p.Ser877Pro)
|
rs1322274178
|
|
|
NM_000135.4(FANCA):c.262A>T (p.Asn88Tyr)
|
rs913466405
|
|
|
NM_000135.4(FANCA):c.2632G>A (p.Glu878Lys)
|
|
|
|
NM_000135.4(FANCA):c.2639G>T (p.Arg880Leu)
|
|
|
|
NM_000135.4(FANCA):c.2644C>A (p.Pro882Thr)
|
|
|
|
NM_000135.4(FANCA):c.2644C>T (p.Pro882Ser)
|
rs1938055960
|
|
|
NM_000135.4(FANCA):c.2647C>G (p.Leu883Val)
|
|
|
|
NM_000135.4(FANCA):c.2650T>C (p.Ser884Pro)
|
|
|
|
NM_000135.4(FANCA):c.2660A>G (p.Asp887Gly)
|
rs1222220230
|
|
|
NM_000135.4(FANCA):c.2662G>C (p.Val888Leu)
|
rs774863156
|
|
|
NM_000135.4(FANCA):c.2674T>A (p.Ser892Thr)
|
|
|
|
NM_000135.4(FANCA):c.2683C>G (p.Pro895Ala)
|
rs755207440
|
|
|
NM_000135.4(FANCA):c.2684C>A (p.Pro895His)
|
rs1234246540
|
|
|
NM_000135.4(FANCA):c.2687T>G (p.Leu896Trp)
|
rs2143288811
|
|
|
NM_000135.4(FANCA):c.2688G>T (p.Leu896Phe)
|
rs142393744
|
|
|
NM_000135.4(FANCA):c.2689C>T (p.His897Tyr)
|
rs766402927
|
|
|
NM_000135.4(FANCA):c.2692C>G (p.Leu898Val)
|
|
|
|
NM_000135.4(FANCA):c.269C>G (p.Ser90Cys)
|
|
|
|
NM_000135.4(FANCA):c.26C>A (p.Ser9Tyr)
|
rs752776388
|
|
|
NM_000135.4(FANCA):c.26C>G (p.Ser9Cys)
|
rs752776388
|
|
|
NM_000135.4(FANCA):c.26C>T (p.Ser9Phe)
|
rs752776388
|
|
|
NM_000135.4(FANCA):c.2711A>G (p.Gln904Arg)
|
rs776576487
|
|
|
NM_000135.4(FANCA):c.2712G>C (p.Gln904His)
|
|
|
|
NM_000135.4(FANCA):c.2720C>T (p.Ala907Val)
|
|
|
|
NM_000135.4(FANCA):c.2728C>A (p.Leu910Ile)
|
rs1216426444
|
|
|
NM_000135.4(FANCA):c.2728C>G (p.Leu910Val)
|
rs1216426444
|
|
|
NM_000135.4(FANCA):c.2734A>C (p.Thr912Pro)
|
rs1220495259
|
|
|
NM_000135.4(FANCA):c.2735C>A (p.Thr912Lys)
|
rs376302719
|
|
|
NM_000135.4(FANCA):c.2741G>T (p.Arg914Ile)
|
|
|
|
NM_000135.4(FANCA):c.2752G>C (p.Glu918Gln)
|
|
|
|
NM_000135.4(FANCA):c.2756T>C (p.Val919Ala)
|
rs202131468
|
|
|
NM_000135.4(FANCA):c.275C>T (p.Ser92Leu)
|
|
|
|
NM_000135.4(FANCA):c.2760G>C (p.Leu920Phe)
|
|
|
|
NM_000135.4(FANCA):c.2765A>C (p.Glu922Ala)
|
rs899634878
|
|
|
NM_000135.4(FANCA):c.2768A>T (p.Glu923Val)
|
|
|
|
NM_000135.4(FANCA):c.2778+3A>G
|
rs757261567
|
|
|
NM_000135.4(FANCA):c.2778+83C>G
|
rs750997715
|
|
|
NM_000135.4(FANCA):c.2778C>T (p.His926=)
|
|
|
|
NM_000135.4(FANCA):c.2779-16_2779-15delinsCG
|
|
|
|
NM_000135.4(FANCA):c.2779-3C>T
|
|
|
|
NM_000135.4(FANCA):c.2783C>A (p.Thr928Asn)
|
rs2143261377
|
|
|
NM_000135.4(FANCA):c.2785T>C (p.Tyr929His)
|
rs1567612427
|
|
|
NM_000135.4(FANCA):c.2786A>C (p.Tyr929Ser)
|
rs2038969615
|
|
|
NM_000135.4(FANCA):c.2791G>C (p.Asp931His)
|
|
|
|
NM_000135.4(FANCA):c.2809C>G (p.Leu937Val)
|
|
|
|
NM_000135.4(FANCA):c.280A>G (p.Ile94Val)
|
|
|
|
NM_000135.4(FANCA):c.2812G>C (p.Glu938Gln)
|
rs376106733
|
|
|
NM_000135.4(FANCA):c.2815A>G (p.Ile939Val)
|
rs1598096962
|
|
|
NM_000135.4(FANCA):c.2820A>C (p.Gln940His)
|
|
|
|
NM_000135.4(FANCA):c.2821C>A (p.Pro941Thr)
|
rs2038968162
|
|
|
NM_000135.4(FANCA):c.2822C>A (p.Pro941His)
|
|
|
|
NM_000135.4(FANCA):c.2826A>C (p.Glu942Asp)
|
rs1217883878
|
|
|
NM_000135.4(FANCA):c.2828C>T (p.Ala943Val)
|
|
|
|
NM_000135.4(FANCA):c.283+5G>A
|
rs1598199184
|
|
|
NM_000135.4(FANCA):c.2830G>A (p.Asp944Asn)
|
|
|
|
NM_000135.4(FANCA):c.2830G>T (p.Asp944Tyr)
|
|
|
|
NM_000135.4(FANCA):c.2834C>T (p.Ala945Val)
|
rs1221107443
|
|
|
NM_000135.4(FANCA):c.2836C>G (p.Leu946Val)
|
|
|
|
NM_000135.4(FANCA):c.2836C>T (p.Leu946Phe)
|
|
|
|
NM_000135.4(FANCA):c.2843A>C (p.Asp948Ala)
|
|
|
|
NM_000135.4(FANCA):c.2843A>T (p.Asp948Val)
|
rs193172749
|
|
|
NM_000135.4(FANCA):c.2846C>T (p.Thr949Ile)
|
rs2038967398
|
|
|
NM_000135.4(FANCA):c.2852+3A>G
|
rs2038966938
|
|
|
NM_000135.4(FANCA):c.2855A>C (p.Gln952Pro)
|
rs2143225876
|
|
|
NM_000135.4(FANCA):c.2858A>C (p.Asp953Ala)
|
|
|
|
NM_000135.4(FANCA):c.2860T>A (p.Phe954Ile)
|
|
|
|
NM_000135.4(FANCA):c.2862C>G (p.Phe954Leu)
|
rs2038844439
|
|
|
NM_000135.4(FANCA):c.2877C>G (p.Ile959Met)
|
|
|
|
NM_000135.4(FANCA):c.2878C>G (p.His960Asp)
|
|
|
|
NM_000135.4(FANCA):c.2878C>T (p.His960Tyr)
|
rs923046981
|
|
|
NM_000135.4(FANCA):c.2882A>C (p.Glu961Ala)
|
|
|
|
NM_000135.4(FANCA):c.2885A>T (p.His962Leu)
|
|
|
|
NM_000135.4(FANCA):c.2893C>G (p.Pro965Ala)
|
|
|
|
NM_000135.4(FANCA):c.2896G>A (p.Glu966Lys)
|
rs1192724266
|
|
|
NM_000135.4(FANCA):c.2908T>C (p.Ser970Pro)
|
|
|
|
NM_000135.4(FANCA):c.2912G>C (p.Gly971Ala)
|
|
|
|
NM_000135.4(FANCA):c.2914G>A (p.Gly972Ser)
|
rs764155334
|
|
|
NM_000135.4(FANCA):c.2914G>T (p.Gly972Cys)
|
|
|
|
NM_000135.4(FANCA):c.2922C>A (p.Asp974Glu)
|
rs756241886
|
|
|
NM_000135.4(FANCA):c.2936C>G (p.Ala979Gly)
|
|
|
|
NM_000135.4(FANCA):c.2942G>C (p.Cys981Ser)
|
rs1555542910
|
|
|
NM_000135.4(FANCA):c.2945C>G (p.Thr982Ser)
|
rs772577909
|
|
|
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro)
|
rs752735858
|
|
|
NM_000135.4(FANCA):c.2959G>T (p.Ala987Ser)
|
rs752735858
|
|
|
NM_000135.4(FANCA):c.2960C>T (p.Ala987Val)
|
|
|
|
NM_000135.4(FANCA):c.2976C>G (p.His992Gln)
|
rs527882851
|
|
|
NM_000135.4(FANCA):c.2981+3T>A
|
|
|
|
NM_000135.4(FANCA):c.2981+3T>C
|
rs2038838887
|
|
|
NM_000135.4(FANCA):c.298G>C (p.Asp100His)
|
|
|
|
NM_000135.4(FANCA):c.2995G>C (p.Asp999His)
|
rs1277218406
|
|
|
NM_000135.4(FANCA):c.2996A>G (p.Asp999Gly)
|
rs2143164062
|
|
|
NM_000135.4(FANCA):c.3026G>T (p.Gly1009Val)
|
|
|
|
NM_000135.4(FANCA):c.3029G>T (p.Gly1010Val)
|
rs767105291
|
|
|
NM_000135.4(FANCA):c.3045G>C (p.Glu1015Asp)
|
rs147661788
|
|
|
NM_000135.4(FANCA):c.3046G>A (p.Asp1016Asn)
|
|
|
|
NM_000135.4(FANCA):c.3056C>A (p.Ser1019Tyr)
|
rs762111755
|
|
|
NM_000135.4(FANCA):c.3059G>C (p.Arg1020Thr)
|
rs777061373
|
|
|
NM_000135.4(FANCA):c.3062T>G (p.Leu1021Trp)
|
rs891626452
|
|
|
NM_000135.4(FANCA):c.3066+13_3066+75del
|
|
|
|
NM_000135.4(FANCA):c.3066+3_3066+9delinsCC
|
rs2038616017
|
|
|
NM_000135.4(FANCA):c.3066G>C (p.Gln1022His)
|
|
|
|
NM_000135.4(FANCA):c.3067-10T>A
|
|
|
|
NM_000135.4(FANCA):c.3067-3C>T
|
|
|
|
NM_000135.4(FANCA):c.3068A>G (p.Glu1023Gly)
|
|
|
|
NM_000135.4(FANCA):c.3073G>T (p.Val1025Leu)
|
|
|
|
NM_000135.4(FANCA):c.3100C>G (p.Leu1034Val)
|
|
|
|
NM_000135.4(FANCA):c.3109C>G (p.Pro1037Ala)
|
rs771174892
|
|
|
NM_000135.4(FANCA):c.3116G>A (p.Gly1039Asp)
|
rs1292002479
|
|
|
NM_000135.4(FANCA):c.311G>A (p.Arg104Lys)
|
rs1057245679
|
|
|
NM_000135.4(FANCA):c.3121A>T (p.Thr1041Ser)
|
rs769635187
|
|
|
NM_000135.4(FANCA):c.3124C>T (p.Pro1042Ser)
|
rs1355177352
|
|
|
NM_000135.4(FANCA):c.3128C>T (p.Ser1043Phe)
|
rs964766722
|
|
|
NM_000135.4(FANCA):c.3134A>C (p.Glu1045Ala)
|
rs2143139368
|
|
|
NM_000135.4(FANCA):c.3142C>G (p.Leu1048Val)
|
rs2143139226
|
|
|
NM_000135.4(FANCA):c.3149A>C (p.Glu1050Ala)
|
rs954683462
|
|
|
NM_000135.4(FANCA):c.3150G>C (p.Glu1050Asp)
|
rs2143139115
|
|
|
NM_000135.4(FANCA):c.3154T>C (p.Phe1052Leu)
|
|
|
|
NM_000135.4(FANCA):c.3158G>A (p.Arg1053His)
|
rs371351450
|
|
|
NM_000135.4(FANCA):c.3175C>G (p.Leu1059Val)
|
rs964650941
|
|
|
NM_000135.4(FANCA):c.3184G>C (p.Gly1062Arg)
|
rs142379991
|
|
|
NM_000135.4(FANCA):c.3188G>C (p.Trp1063Ser)
|
rs1166286386
|
|
|
NM_000135.4(FANCA):c.3189G>T (p.Trp1063Cys)
|
|
|
|
NM_000135.4(FANCA):c.3193G>C (p.Val1065Leu)
|
rs140124051
|
|
|
NM_000135.4(FANCA):c.3197C>G (p.Ala1066Gly)
|
rs1419279017
|
|
|
NM_000135.4(FANCA):c.3202A>G (p.Ser1068Gly)
|
|
|
|
NM_000135.4(FANCA):c.3206T>G (p.Leu1069Arg)
|
rs756620986
|
|
|
NM_000135.4(FANCA):c.3216G>C (p.Gln1072His)
|
rs753298211
|
|
|
NM_000135.4(FANCA):c.3218G>A (p.Arg1073Lys)
|
|
|
|
NM_000135.4(FANCA):c.3230T>C (p.Met1077Thr)
|
rs776603588
|
|
|
NM_000135.4(FANCA):c.3233A>G (p.Tyr1078Cys)
|
|
|
|
NM_000135.4(FANCA):c.3238C>A (p.Arg1080=)
|
|
|
|
NM_000135.4(FANCA):c.323C>T (p.Pro108Leu)
|
|
|
|
NM_000135.4(FANCA):c.3240-3C>T
|
rs1315428324
|
|
|
NM_000135.4(FANCA):c.3240G>A (p.Arg1080=)
|
|
|
|
NM_000135.4(FANCA):c.3244C>T (p.Leu1082Phe)
|
rs2038477938
|
|
|
NM_000135.4(FANCA):c.3247C>T (p.Leu1083Phe)
|
rs2143128365
|
|
|
NM_000135.4(FANCA):c.324C>G (p.Pro108=)
|
rs775822054
|
|
|
NM_000135.4(FANCA):c.3251G>T (p.Arg1084Leu)
|
rs752642945
|
|
|
NM_000135.4(FANCA):c.3254T>G (p.Leu1085Arg)
|
|
|
|
NM_000135.4(FANCA):c.325G>A (p.Val109Met)
|
rs772639206
|
|
|
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly)
|
rs2038476999
|
|
|
NM_000135.4(FANCA):c.3281G>A (p.Ser1094Asn)
|
|
|
|
NM_000135.4(FANCA):c.3281G>C (p.Ser1094Thr)
|
rs946572285
|
|
|
NM_000135.4(FANCA):c.3282C>G (p.Ser1094Arg)
|
rs761244757
|
|
|
NM_000135.4(FANCA):c.3286C>G (p.Gln1096Glu)
|
|
|
|
NM_000135.4(FANCA):c.3287A>G (p.Gln1096Arg)
|
rs1598074664
|
|
|
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His)
|
rs1433848980
|
|
|
NM_000135.4(FANCA):c.3299C>A (p.Pro1100His)
|
|
|
|
NM_000135.4(FANCA):c.3301A>G (p.Ile1101Val)
|
rs2038475500
|
|
|
NM_000135.4(FANCA):c.3305C>T (p.Thr1102Ile)
|
rs771117949
|
|
|
NM_000135.4(FANCA):c.3311G>C (p.Arg1104Thr)
|
|
|
|
NM_000135.4(FANCA):c.3312A>G (p.Arg1104=)
|
rs1598074599
|
|
|
NM_000135.4(FANCA):c.3321G>T (p.Gln1107His)
|
rs1276452090
|
|
|
NM_000135.4(FANCA):c.3330C>A (p.His1110Gln)
|
|
|
|
NM_000135.4(FANCA):c.3331T>G (p.Leu1111Val)
|
|
|
|
NM_000135.4(FANCA):c.3339C>G (p.Asn1113Lys)
|
rs1236607168
|
|
|
NM_000135.4(FANCA):c.3344A>G (p.Glu1115Gly)
|
rs1057520051
|
|
|
NM_000135.4(FANCA):c.3348+4G>A
|
rs1217286568
|
|
|
NM_000135.4(FANCA):c.3349-10T>C
|
|
|
|
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp)
|
rs371208490
|
|
|
NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del)
|
rs1314042335
|
|
|
NM_000135.4(FANCA):c.3364C>T (p.His1122Tyr)
|
|
|
|
NM_000135.4(FANCA):c.3377T>C (p.Leu1126Pro)
|
rs2038408800
|
|
|
NM_000135.4(FANCA):c.3388A>G (p.Ile1130Val)
|
rs2038408286
|
|
|
NM_000135.4(FANCA):c.3390C>G (p.Ile1130Met)
|
rs373168838
|
|
|
NM_000135.4(FANCA):c.3395C>T (p.Ala1132Val)
|
|
|
|
NM_000135.4(FANCA):c.3408+6A>T
|
rs1269046351
|
|
|
NM_000135.4(FANCA):c.3409-3C>T
|
|
|
|
NM_000135.4(FANCA):c.3409-5T>G
|
rs2038402047
|
|
|
NM_000135.4(FANCA):c.3412C>T (p.Leu1138Phe)
|
rs138417003
|
|
|
NM_000135.4(FANCA):c.3418A>T (p.Asn1140Tyr)
|
|
|
|
NM_000135.4(FANCA):c.3419A>G (p.Asn1140Ser)
|
|
|
|
NM_000135.4(FANCA):c.3421G>T (p.Ala1141Ser)
|
rs547984666
|
|
|
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp)
|
rs587778318
|
|
|
NM_000135.4(FANCA):c.3425G>A (p.Cys1142Tyr)
|
|
|
|
NM_000135.4(FANCA):c.3425G>C (p.Cys1142Ser)
|
|
|
|
NM_000135.4(FANCA):c.3428T>C (p.Leu1143Pro)
|
|
|
|
NM_000135.4(FANCA):c.3428T>G (p.Leu1143Arg)
|
rs1188842855
|
|
|
NM_000135.4(FANCA):c.3437G>A (p.Arg1146Lys)
|
|
|
|
NM_000135.4(FANCA):c.3439G>C (p.Asp1147His)
|
rs2038400529
|
|
|
NM_000135.4(FANCA):c.3462C>G (p.Phe1154Leu)
|
|
|
|
NM_000135.4(FANCA):c.3466C>G (p.Leu1156Val)
|
|
|
|
NM_000135.4(FANCA):c.3467T>A (p.Leu1156Gln)
|
rs1281597417
|
|
|
NM_000135.4(FANCA):c.3469G>T (p.Ala1157Ser)
|
rs1347794550
|
|
|
NM_000135.4(FANCA):c.346A>C (p.Met116Leu)
|
|
|
|
NM_000135.4(FANCA):c.3470C>T (p.Ala1157Val)
|
|
|
|
NM_000135.4(FANCA):c.3480G>C (p.Gln1160His)
|
rs983310870
|
|
|
NM_000135.4(FANCA):c.3481A>G (p.Thr1161Ala)
|
|
|
|
NM_000135.4(FANCA):c.3482C>A (p.Thr1161Lys)
|
rs142833057
|
|
|
NM_000135.4(FANCA):c.3496A>G (p.Ile1166Val)
|
|
|
|
NM_000135.4(FANCA):c.3503C>T (p.Thr1168Ile)
|
|
|
|
NM_000135.4(FANCA):c.3508G>C (p.Ala1170Pro)
|
rs778280114
|
|
|
NM_000135.4(FANCA):c.3512T>C (p.Leu1171Pro)
|
rs1598070682
|
|
|
NM_000135.4(FANCA):c.3513+4G>C
|
rs878946193
|
|
|
NM_000135.4(FANCA):c.3515T>C (p.Val1172Ala)
|
|
|
|
NM_000135.4(FANCA):c.3519G>C (p.Trp1173Cys)
|
|
|
|
NM_000135.4(FANCA):c.3527G>T (p.Ser1176Ile)
|
|
|
|
NM_000135.4(FANCA):c.3536C>T (p.Pro1179Leu)
|
|
|
|
NM_000135.4(FANCA):c.3538G>C (p.Val1180Leu)
|
rs372706571
|
|
|
NM_000135.4(FANCA):c.3539T>A (p.Val1180Glu)
|
rs2143088182
|
|
|
NM_000135.4(FANCA):c.353C>G (p.Ala118Gly)
|
|
|
|
NM_000135.4(FANCA):c.3540_3545del (p.Leu1181_Leu1182del)
|
|
|
|
NM_000135.4(FANCA):c.3542T>G (p.Leu1181Arg)
|
rs1300778675
|
|
|
NM_000135.4(FANCA):c.3547T>G (p.Cys1183Gly)
|
rs763856094
|
|
|
NM_000135.4(FANCA):c.3551G>A (p.Arg1184Gln)
|
rs147672303
|
|
|
NM_000135.4(FANCA):c.3560G>A (p.Arg1187Lys)
|
|
|
|
NM_000135.4(FANCA):c.3566G>T (p.Cys1189Phe)
|
|
|
|
NM_000135.4(FANCA):c.3569A>G (p.Gln1190Arg)
|
rs1450954823
|
|
|
NM_000135.4(FANCA):c.3570G>C (p.Gln1190His)
|
rs1382222104
|
|
|
NM_000135.4(FANCA):c.3574C>T (p.Pro1192Ser)
|
rs2062210666
|
|
|
NM_000135.4(FANCA):c.3580C>T (p.Pro1194Ser)
|
rs1415910337
|
|
|
NM_000135.4(FANCA):c.3583C>G (p.Arg1195Gly)
|
rs143642304
|
|
|
NM_000135.4(FANCA):c.3586G>C (p.Glu1196Gln)
|
rs1390620949
|
|
|
NM_000135.4(FANCA):c.3603A>C (p.Gln1201His)
|
rs1157577447
|
|
|
NM_000135.4(FANCA):c.3605_3606delinsGC (p.Glu1202Gly)
|
rs2062210162
|
|
|
NM_000135.4(FANCA):c.360C>A (p.Ser120Arg)
|
rs968636087
|
|
|
NM_000135.4(FANCA):c.3620C>T (p.Ala1207Val)
|
|
|
|
NM_000135.4(FANCA):c.3623G>T (p.Ser1208Ile)
|
rs1351484293
|
|
|
NM_000135.4(FANCA):c.3625G>A (p.Asp1209Asn)
|
|
|
|
NM_000135.4(FANCA):c.3626+5G>A
|
rs370801038
|
|
|
NM_000135.4(FANCA):c.3627-13CT[2]
|
|
|
|
NM_000135.4(FANCA):c.3635C>A (p.Ser1212Tyr)
|
|
|
|
NM_000135.4(FANCA):c.3635C>T (p.Ser1212Phe)
|
rs1203053045
|
|
|
NM_000135.4(FANCA):c.3641A>T (p.Glu1214Val)
|
|
|
|
NM_000135.4(FANCA):c.3646G>T (p.Ala1216Ser)
|
rs1262639465
|
|
|
NM_000135.4(FANCA):c.3650C>G (p.Ser1217Cys)
|
rs2062171853
|
|
|
NM_000135.4(FANCA):c.3652C>T (p.Pro1218Ser)
|
rs1555535564
|
|
|
NM_000135.4(FANCA):c.3653_3654inv (p.Pro1218Leu)
|
|
|
|
NM_000135.4(FANCA):c.3658C>G (p.Pro1220Ala)
|
|
|
|
NM_000135.4(FANCA):c.3659C>G (p.Pro1220Arg)
|
rs2062171639
|
|
|
NM_000135.4(FANCA):c.3664C>G (p.Pro1222Ala)
|
|
|
|
NM_000135.4(FANCA):c.3679G>A (p.Ala1227Thr)
|
|
|
|
NM_000135.4(FANCA):c.367C>A (p.Gln123Lys)
|
rs985886242
|
|
|
NM_000135.4(FANCA):c.367C>G (p.Gln123Glu)
|
rs985886242
|
|
|
NM_000135.4(FANCA):c.3682G>A (p.Ala1228Thr)
|
rs2062171185
|
|
|
NM_000135.4(FANCA):c.3683C>G (p.Ala1228Gly)
|
|
|
|
NM_000135.4(FANCA):c.3685G>A (p.Ala1229Thr)
|
rs2143062040
|
|
|
NM_000135.4(FANCA):c.3686C>G (p.Ala1229Gly)
|
rs1465548673
|
|
|
NM_000135.4(FANCA):c.368A>G (p.Gln123Arg)
|
|
|
|
NM_000135.4(FANCA):c.3691C>T (p.His1231Tyr)
|
|
|
|
NM_000135.4(FANCA):c.3698C>G (p.Ala1233Gly)
|
rs545742908
|
|
|
NM_000135.4(FANCA):c.3700A>G (p.Ile1234Val)
|
rs1598063117
|
|
|
NM_000135.4(FANCA):c.3706C>G (p.Gln1236Glu)
|
|
|
|
NM_000135.4(FANCA):c.3708A>C (p.Gln1236His)
|
rs1192518263
|
|
|
NM_000135.4(FANCA):c.3715G>A (p.Glu1239Lys)
|
rs2143061441
|
|
|
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln)
|
rs150719428
|
|
|
NM_000135.4(FANCA):c.371T>C (p.Ile124Thr)
|
|
|
|
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del)
|
rs1441710252
|
|
|
NM_000135.4(FANCA):c.3726C>T (p.Ile1242=)
|
|
|
|
NM_000135.4(FANCA):c.372C>G (p.Ile124Met)
|
rs765016775
|
|
|
NM_000135.4(FANCA):c.3732G>C (p.Lys1244Asn)
|
|
|
|
NM_000135.4(FANCA):c.3742A>C (p.Lys1248Gln)
|
|
|
|
NM_000135.4(FANCA):c.374G>C (p.Cys125Ser)
|
rs761165542
|
|
|
NM_000135.4(FANCA):c.3753C>T (p.Cys1251=)
|
|
|
|
NM_000135.4(FANCA):c.3757A>G (p.Arg1253Gly)
|
rs2143060537
|
|
|
NM_000135.4(FANCA):c.3766C>G (p.Leu1256Val)
|
|
|
|
NM_000135.4(FANCA):c.376A>G (p.Thr126Ala)
|
|
|
|
NM_000135.4(FANCA):c.3771G>T (p.Leu1257Phe)
|
rs1402327994
|
|
|
NM_000135.4(FANCA):c.3778_3783del (p.Leu1260_Phe1261del)
|
rs1157717956
|
|
|
NM_000135.4(FANCA):c.3783C>G (p.Phe1261Leu)
|
|
|
|
NM_000135.4(FANCA):c.3788T>A (p.Phe1263Tyr)
|
|
|
|
NM_000135.4(FANCA):c.3795G>T (p.Leu1265Phe)
|
|
|
|
NM_000135.4(FANCA):c.380C>T (p.Ala127Val)
|
rs2143679916
|
|
|
NM_000135.4(FANCA):c.3814C>T (p.His1272Tyr)
|
rs2062114648
|
|
|
NM_000135.4(FANCA):c.3815A>G (p.His1272Arg)
|
|
|
|
NM_000135.4(FANCA):c.3826A>G (p.Asn1276Asp)
|
rs2062114365
|
|
|
NM_000135.4(FANCA):c.3828T>C (p.Asn1276=)
|
|
|
|
NM_000135.4(FANCA):c.3851C>A (p.Ala1284Asp)
|
|
|
|
NM_000135.4(FANCA):c.3853T>C (p.Phe1285Leu)
|
rs1470679036
|
|
|
NM_000135.4(FANCA):c.3855C>A (p.Phe1285Leu)
|
|
|
|
NM_000135.4(FANCA):c.3858C>A (p.His1286Gln)
|
rs761705192
|
|
|
NM_000135.4(FANCA):c.385G>A (p.Ala129Thr)
|
rs374945563
|
|
|
NM_000135.4(FANCA):c.3863G>T (p.Cys1288Phe)
|
rs2062089641
|
|
|
NM_000135.4(FANCA):c.3865G>C (p.Ala1289Pro)
|
rs2151714785
|
|
|
NM_000135.4(FANCA):c.3869C>T (p.Ala1290Val)
|
|
|
|
NM_000135.4(FANCA):c.386C>A (p.Ala129Glu)
|
rs577625130
|
|
|
NM_000135.4(FANCA):c.386C>G (p.Ala129Gly)
|
|
|
|
NM_000135.4(FANCA):c.3871A>G (p.Ile1291Val)
|
rs547572315
|
|
|
NM_000135.4(FANCA):c.3876_3877delinsAA (p.Glu1293Lys)
|
|
|
|
NM_000135.4(FANCA):c.3877G>A (p.Glu1293Lys)
|
rs1015729981
|
|
|
NM_000135.4(FANCA):c.3889A>G (p.Lys1297Glu)
|
|
|
|
NM_000135.4(FANCA):c.3896_3898del (p.Lys1299del)
|
|
|
|
NM_000135.4(FANCA):c.3897G>C (p.Lys1299Asn)
|
|
|
|
NM_000135.4(FANCA):c.3898A>G (p.Ile1300Val)
|
rs1232415717
|
|
|
NM_000135.4(FANCA):c.38A>G (p.Gln13Arg)
|
rs1264855885
|
|
|
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr)
|
rs765162125
|
|
|
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg)
|
rs878853665
|
|
|
NM_000135.4(FANCA):c.3908T>C (p.Leu1303Pro)
|
rs1598055304
|
|
|
NM_000135.4(FANCA):c.390G>T (p.Glu130Asp)
|
|
|
|
NM_000135.4(FANCA):c.3916T>C (p.Phe1306Leu)
|
|
|
|
NM_000135.4(FANCA):c.3919C>G (p.Gln1307Glu)
|
|
|
|
NM_000135.4(FANCA):c.3924G>T (p.Leu1308Phe)
|
rs775127240
|
|
|
NM_000135.4(FANCA):c.3930G>C (p.Glu1310Asp)
|
rs2151714594
|
|
|
NM_000135.4(FANCA):c.3932G>A (p.Ser1311Asn)
|
rs2062087829
|
|
|
NM_000135.4(FANCA):c.3937C>T (p.Leu1313Phe)
|
rs551306400
|
|
|
NM_000135.4(FANCA):c.394A>T (p.Ser132Cys)
|
|
|
|
NM_000135.4(FANCA):c.3952C>G (p.Leu1318Val)
|
rs2151712993
|
|
|
NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del)
|
rs927201841
|
|
|
NM_000135.4(FANCA):c.3955C>T (p.Leu1319Phe)
|
|
|
|
NM_000135.4(FANCA):c.3961C>A (p.Arg1321Ser)
|
rs755375493
|
|
|
NM_000135.4(FANCA):c.3962G>C (p.Arg1321Pro)
|
rs374649848
|
|
|
NM_000135.4(FANCA):c.396T>G (p.Ser132Arg)
|
rs1272640964
|
|
|
NM_000135.4(FANCA):c.3970C>T (p.Pro1324Ser)
|
rs2151712907
|
|
|
NM_000135.4(FANCA):c.3975T>G (p.Asp1325Glu)
|
rs962823945
|
|
|
NM_000135.4(FANCA):c.3976C>G (p.Gln1326Glu)
|
|
|
|
NM_000135.4(FANCA):c.397C>T (p.His133Tyr)
|
|
|
|
NM_000135.4(FANCA):c.3988C>A (p.Leu1330Met)
|
|
|
|
NM_000135.4(FANCA):c.3999C>A (p.Phe1333Leu)
|
rs774576283
|
|
|
NM_000135.4(FANCA):c.4004T>C (p.Phe1335Ser)
|
|
|
|
NM_000135.4(FANCA):c.4015C>G (p.Leu1339Val)
|
|
|
|
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser)
|
rs768733593
|
|
|
NM_000135.4(FANCA):c.4022A>G (p.Tyr1341Cys)
|
|
|
|
NM_000135.4(FANCA):c.4025T>G (p.Phe1342Cys)
|
|
|
|
NM_000135.4(FANCA):c.4026C>A (p.Phe1342Leu)
|
|
|
|
NM_000135.4(FANCA):c.4029T>G (p.His1343Gln)
|
rs745577614
|
|
|
NM_000135.4(FANCA):c.4033G>C (p.Asp1345His)
|
|
|
|
NM_000135.4(FANCA):c.4039G>A (p.Ala1347Thr)
|
rs751928369
|
|
|
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp)
|
rs1477796994
|
|
|
NM_000135.4(FANCA):c.4061T>C (p.Leu1354Pro)
|
|
|
|
NM_000135.4(FANCA):c.4064A>C (p.His1355Pro)
|
|
|
|
NM_000135.4(FANCA):c.4064A>G (p.His1355Arg)
|
|
|
|
NM_000135.4(FANCA):c.4070C>T (p.Ala1357Val)
|
|
|
|
NM_000135.4(FANCA):c.4075G>C (p.Asp1359His)
|
rs1555533313
|
|
|
NM_000135.4(FANCA):c.4078A>G (p.Met1360Val)
|
|
|
|
NM_000135.4(FANCA):c.4084T>G (p.Leu1362Val)
|
rs775351812
|
|
|
NM_000135.4(FANCA):c.4088A>G (p.Lys1363Arg)
|
rs773947543
|
|
|
NM_000135.4(FANCA):c.4093G>C (p.Val1365Leu)
|
rs529210242
|
|
|
NM_000135.4(FANCA):c.4099C>T (p.Leu1367Phe)
|
|
|
|
NM_000135.4(FANCA):c.4105G>A (p.Val1369Met)
|
rs201225325
|
|
|
NM_000135.4(FANCA):c.4105G>C (p.Val1369Leu)
|
rs201225325
|
|
|
NM_000135.4(FANCA):c.4111G>A (p.Gly1371Arg)
|
|
|
|
NM_000135.4(FANCA):c.4118C>G (p.Thr1373Arg)
|
rs1277481284
|
|
|
NM_000135.4(FANCA):c.4124C>T (p.Thr1375Ile)
|
rs2062055389
|
|
|
NM_000135.4(FANCA):c.4126G>A (p.Val1376Ile)
|
|
|
|
NM_000135.4(FANCA):c.4132C>T (p.Pro1378Ser)
|
rs2062055110
|
|
|
NM_000135.4(FANCA):c.4135C>A (p.Pro1379Thr)
|
|
|
|
NM_000135.4(FANCA):c.4138G>A (p.Ala1380Thr)
|
rs775234845
|
|
|
NM_000135.4(FANCA):c.4138G>C (p.Ala1380Pro)
|
rs775234845
|
|
|
NM_000135.4(FANCA):c.4145G>C (p.Arg1382Thr)
|
rs367970303
|
|
|
NM_000135.4(FANCA):c.4147A>G (p.Ser1383Gly)
|
rs2062054242
|
|
|
NM_000135.4(FANCA):c.4149C>G (p.Ser1383Arg)
|
|
|
|
NM_000135.4(FANCA):c.4155G>C (p.Glu1385Asp)
|
rs770551622
|
|
|
NM_000135.4(FANCA):c.415G>A (p.Val139Met)
|
|
|
|
NM_000135.4(FANCA):c.4167G>C (p.Gln1389His)
|
rs1598051449
|
|
|
NM_000135.4(FANCA):c.4169G>T (p.Gly1390Val)
|
rs2062046761
|
|
|
NM_000135.4(FANCA):c.4186A>T (p.Ile1396Leu)
|
rs1376923890
|
|
|
NM_000135.4(FANCA):c.4187T>A (p.Ile1396Lys)
|
|
|
|
NM_000135.4(FANCA):c.4187T>C (p.Ile1396Thr)
|
|
|
|
NM_000135.4(FANCA):c.4190C>A (p.Thr1397Lys)
|
|
|
|
NM_000135.4(FANCA):c.4193A>G (p.Lys1398Arg)
|
|
|
|
NM_000135.4(FANCA):c.4195G>A (p.Ala1399Thr)
|
rs749574677
|
|
|
NM_000135.4(FANCA):c.4196C>T (p.Ala1399Val)
|
rs1457671800
|
|
|
NM_000135.4(FANCA):c.4232C>A (p.Pro1411Gln)
|
rs201494304
|
|
|
NM_000135.4(FANCA):c.4241G>C (p.Ser1414Thr)
|
rs772122405
|
|
|
NM_000135.4(FANCA):c.4253T>C (p.Val1418Ala)
|
|
|
|
NM_000135.4(FANCA):c.425G>C (p.Arg142Thr)
|
|
|
|
NM_000135.4(FANCA):c.426+18A>T
|
|
|
|
NM_000135.4(FANCA):c.426+3A>G
|
|
|
|
NM_000135.4(FANCA):c.426+4A>G
|
|
|
|
NM_000135.4(FANCA):c.4260G>C (p.Glu1420Asp)
|
rs2151710661
|
|
|
NM_000135.4(FANCA):c.4264C>A (p.Leu1422Met)
|
|
|
|
NM_000135.4(FANCA):c.4264C>G (p.Leu1422Val)
|
|
|
|
NM_000135.4(FANCA):c.427-12CT[2]
|
rs2143678081
|
|
|
NM_000135.4(FANCA):c.4273C>G (p.Arg1425Gly)
|
rs587778321
|
|
|
NM_000135.4(FANCA):c.4274G>C (p.Arg1425Pro)
|
rs147406377
|
|
|
NM_000135.4(FANCA):c.4276G>C (p.Gly1426Arg)
|
|
|
|
NM_000135.4(FANCA):c.4277G>T (p.Gly1426Val)
|
rs1350768758
|
|
|
NM_000135.4(FANCA):c.427A>C (p.Lys143Gln)
|
|
|
|
NM_000135.4(FANCA):c.427_428delinsTG (p.Lys143Trp)
|
rs2040847073
|
|
|
NM_000135.4(FANCA):c.4283G>C (p.Cys1428Ser)
|
|
|
|
NM_000135.4(FANCA):c.4286_4300dup (p.Ser1433_Ala1434insAspProGluValSer)
|
|
|
|
NM_000135.4(FANCA):c.4288C>G (p.Pro1430Ala)
|
|
|
|
NM_000135.4(FANCA):c.4291G>A (p.Glu1431Lys)
|
rs1567591125
|
|
|
NM_000135.4(FANCA):c.4291G>C (p.Glu1431Gln)
|
rs1567591125
|
|
|
NM_000135.4(FANCA):c.4293G>C (p.Glu1431Asp)
|
rs1235881790
|
|
|
NM_000135.4(FANCA):c.4294G>A (p.Val1432Met)
|
|
|
|
NM_000135.4(FANCA):c.4295T>G (p.Val1432Gly)
|
|
|
|
NM_000135.4(FANCA):c.4299C>G (p.Ser1433Arg)
|
rs568293451
|
|
|
NM_000135.4(FANCA):c.42C>G (p.Asp14Glu)
|
rs750021837
|
|
|
NM_000135.4(FANCA):c.4307T>A (p.Leu1436His)
|
|
|
|
NM_000135.4(FANCA):c.4313G>A (p.Ser1438Asn)
|
|
|
|
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr)
|
rs587778322
|
|
|
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter)
|
rs767234774
|
|
|
NM_000135.4(FANCA):c.4319del (p.Gln1440fs)
|
rs2151709763
|
|
|
NM_000135.4(FANCA):c.4321C>T (p.Gln1441Ter)
|
|
|
|
NM_000135.4(FANCA):c.4328C>T (p.Ala1443Val)
|
|
|
|
NM_000135.4(FANCA):c.432G>C (p.Lys144Asn)
|
|
|
|
NM_000135.4(FANCA):c.4330C>G (p.Pro1444Ala)
|
|
|
|
NM_000135.4(FANCA):c.4333G>A (p.Asp1445Asn)
|
rs769025633
|
|
|
NM_000135.4(FANCA):c.4335C>G (p.Asp1445Glu)
|
|
|
|
NM_000135.4(FANCA):c.4336G>A (p.Ala1446Thr)
|
|
|
|
NM_000135.4(FANCA):c.4336G>T (p.Ala1446Ser)
|
|
|
|
NM_000135.4(FANCA):c.4343T>G (p.Leu1448Arg)
|
rs1223154937
|
|
|
NM_000135.4(FANCA):c.4344_4356del (p.Ser1449fs)
|
|
|
|
NM_000135.4(FANCA):c.4346C>G (p.Ser1449Cys)
|
rs779236651
|
|
|
NM_000135.4(FANCA):c.4349A>G (p.Gln1450Arg)
|
rs757549007
|
|
|
NM_000135.4(FANCA):c.4351G>C (p.Glu1451Gln)
|
rs1043241541
|
|
|
NM_000135.4(FANCA):c.4354C>T (p.Pro1452Ser)
|
rs1489574740
|
|
|
NM_000135.4(FANCA):c.4355C>G (p.Pro1452Arg)
|
|
|
|
NM_000135.4(FANCA):c.4357C>T (p.His1453Tyr)
|
rs1338647532
|
|
|
NM_000135.4(FANCA):c.4358del (p.His1453fs)
|
rs2151709638
|
|
|
NM_000135.4(FANCA):c.4361T>C (p.Leu1454Pro)
|
rs2151709628
|
|
|
NM_000135.4(FANCA):c.44C>T (p.Pro15Leu)
|
|
|
|
NM_000135.4(FANCA):c.453T>G (p.Phe151Leu)
|
rs2143677733
|
|
|
NM_000135.4(FANCA):c.46G>A (p.Gly16Arg)
|
|
|
|
NM_000135.4(FANCA):c.493T>A (p.Ser165Thr)
|
rs113468465
|
|
|
NM_000135.4(FANCA):c.494C>G (p.Ser165Cys)
|
rs141918444
|
|
|
NM_000135.4(FANCA):c.49G>T (p.Gly17Cys)
|
|
|
|
NM_000135.4(FANCA):c.4T>G (p.Ser2Ala)
|
rs2041144813
|
|
|
NM_000135.4(FANCA):c.500G>A (p.Cys167Tyr)
|
rs1257428184
|
|
|
NM_000135.4(FANCA):c.505G>A (p.Glu169Lys)
|
rs372691338
|
|
|
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)
|
|
|
|
NM_000135.4(FANCA):c.506A>T (p.Glu169Val)
|
rs1403377153
|
|
|
NM_000135.4(FANCA):c.50G>A (p.Gly17Asp)
|
|
|
|
NM_000135.4(FANCA):c.50G>C (p.Gly17Ala)
|
rs1326963514
|
|
|
NM_000135.4(FANCA):c.511T>C (p.Trp171Arg)
|
|
|
|
NM_000135.4(FANCA):c.512G>T (p.Trp171Leu)
|
rs2143677109
|
|
|
NM_000135.4(FANCA):c.515A>G (p.Lys172Arg)
|
rs2040844359
|
|
|
NM_000135.4(FANCA):c.520C>A (p.Gln174Lys)
|
rs1454055874
|
|
|
NM_000135.4(FANCA):c.527C>G (p.Ser176Cys)
|
rs35566151
|
|
|
NM_000135.4(FANCA):c.529T>G (p.Leu177Val)
|
rs2040743961
|
|
|
NM_000135.4(FANCA):c.53G>A (p.Arg18His)
|
|
|
|
NM_000135.4(FANCA):c.541G>A (p.Ala181Thr)
|
rs2143657513
|
|
|
NM_000135.4(FANCA):c.542_543delinsTC (p.Ala181Val)
|
rs1598184528
|
|
|
NM_000135.4(FANCA):c.545T>C (p.Val182Ala)
|
rs2040743042
|
|
|
NM_000135.4(FANCA):c.553C>G (p.Leu185Val)
|
rs587778323
|
|
|
NM_000135.4(FANCA):c.558C>G (p.His186Gln)
|
rs149159377
|
|
|
NM_000135.4(FANCA):c.559G>C (p.Val187Leu)
|
rs761538996
|
|
|
NM_000135.4(FANCA):c.565G>C (p.Gly189Arg)
|
rs2143657111
|
|
|
NM_000135.4(FANCA):c.569T>C (p.Ile190Thr)
|
|
|
|
NM_000135.4(FANCA):c.574A>C (p.Ser192Arg)
|
|
|
|
NM_000135.4(FANCA):c.575G>T (p.Ser192Ile)
|
rs771439604
|
|
|
NM_000135.4(FANCA):c.581A>G (p.Gln194Arg)
|
|
|
|
NM_000135.4(FANCA):c.583G>A (p.Glu195Lys)
|
rs2143656849
|
|
|
NM_000135.4(FANCA):c.596+6G>T
|
rs369548513
|
|
|
NM_000135.4(FANCA):c.597-11T>G
|
|
|
|
NM_000135.4(FANCA):c.599A>G (p.His200Arg)
|
|
|
|
NM_000135.4(FANCA):c.5C>G (p.Ser2Cys)
|
rs928016876
|
|
|
NM_000135.4(FANCA):c.5C>T (p.Ser2Phe)
|
rs928016876
|
|
|
NM_000135.4(FANCA):c.605A>G (p.Asp202Gly)
|
|
|
|
NM_000135.4(FANCA):c.607A>G (p.Met203Val)
|
rs2143632366
|
|
|
NM_000135.4(FANCA):c.614C>G (p.Ala205Gly)
|
rs777556447
|
|
|
NM_000135.4(FANCA):c.616G>T (p.Val206Leu)
|
rs2143632297
|
|
|
NM_000135.4(FANCA):c.623C>G (p.Ser208Trp)
|
rs144420697
|
|
|
NM_000135.4(FANCA):c.627G>C (p.Trp209Cys)
|
rs1018067067
|
|
|
NM_000135.4(FANCA):c.628C>G (p.Leu210Val)
|
rs2143632135
|
|
|
NM_000135.4(FANCA):c.631T>C (p.Phe211Leu)
|
|
|
|
NM_000135.4(FANCA):c.641T>G (p.Leu214Arg)
|
|
|
|
NM_000135.4(FANCA):c.643T>A (p.Cys215Ser)
|
|
|
|
NM_000135.4(FANCA):c.647G>C (p.Cys216Ser)
|
rs750011288
|
|
|
NM_000135.4(FANCA):c.649C>T (p.Leu217Phe)
|
|
|
|
NM_000135.4(FANCA):c.659A>G (p.Gln220Arg)
|
|
|
|
NM_000135.4(FANCA):c.65G>C (p.Trp22Ser)
|
rs761341952
|
|
|
NM_000135.4(FANCA):c.663G>A (p.Met221Ile)
|
rs1161493688
|
|
|
NM_000135.4(FANCA):c.664G>A (p.Glu222Lys)
|
rs2040599267
|
|
|
NM_000135.4(FANCA):c.667G>C (p.Ala223Pro)
|
rs771195871
|
|
|
NM_000135.4(FANCA):c.668C>T (p.Ala223Val)
|
rs749362808
|
|
|
NM_000135.4(FANCA):c.674G>A (p.Cys225Tyr)
|
|
|
|
NM_000135.4(FANCA):c.679C>T (p.His227Tyr)
|
|
|
|
NM_000135.4(FANCA):c.68C>A (p.Ala23Asp)
|
|
|
|
NM_000135.4(FANCA):c.691G>A (p.Ala231Thr)
|
rs746814384
|
|
|
NM_000135.4(FANCA):c.691G>T (p.Ala231Ser)
|
rs746814384
|
|
|
NM_000135.4(FANCA):c.703C>T (p.Leu235Phe)
|
rs1316244239
|
|
|
NM_000135.4(FANCA):c.710-16T>A
|
|
|
|
NM_000135.4(FANCA):c.710-3C>A
|
|
|
|
NM_000135.4(FANCA):c.715G>A (p.Val239Ile)
|
|
|
|
NM_000135.4(FANCA):c.715G>C (p.Val239Leu)
|
|
|
|
NM_000135.4(FANCA):c.718C>G (p.Gln240Glu)
|
rs1184639006
|
|
|
NM_000135.4(FANCA):c.735G>C (p.Arg245Ser)
|
|
|
|
NM_000135.4(FANCA):c.742C>A (p.Gln248Lys)
|
rs760744752
|
|
|
NM_000135.4(FANCA):c.745A>G (p.Lys249Glu)
|
|
|
|
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu)
|
rs878853666
|
|
|
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser)
|
rs587778324
|
|
|
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del)
|
rs555210441
|
|
|
NM_000135.4(FANCA):c.765A>C (p.Arg255Ser)
|
rs1025722534
|
|
|
NM_000135.4(FANCA):c.766A>G (p.Thr256Ala)
|
rs898767175
|
|
|
NM_000135.4(FANCA):c.767C>A (p.Thr256Asn)
|
rs377078635
|
|
|
NM_000135.4(FANCA):c.769G>T (p.Val257Leu)
|
rs777311234
|
|
|
NM_000135.4(FANCA):c.775C>G (p.Pro259Ala)
|
rs200988394
|
|
|
NM_000135.4(FANCA):c.775C>T (p.Pro259Ser)
|
|
|
|
NM_000135.4(FANCA):c.776C>G (p.Pro259Arg)
|
rs1598173112
|
|
|
NM_000135.4(FANCA):c.779A>G (p.Glu260Gly)
|
|
|
|
NM_000135.4(FANCA):c.788C>T (p.Pro263Leu)
|
|
|
|
NM_000135.4(FANCA):c.79+4G>A
|
rs2041136967
|
|
|
NM_000135.4(FANCA):c.79+4G>C
|
rs2041136967
|
|
|
NM_000135.4(FANCA):c.79+6T>C
|
|
|
|
NM_000135.4(FANCA):c.796_797delinsGA (p.Thr266Glu)
|
rs2143585439
|
|
|
NM_000135.4(FANCA):c.7G>T (p.Asp3Tyr)
|
rs1246636933
|
|
|
NM_000135.4(FANCA):c.80-10C>A
|
rs771005210
|
|
|
NM_000135.4(FANCA):c.80-5C>G
|
|
|
|
NM_000135.4(FANCA):c.80-6C>G
|
rs981258320
|
|
|
NM_000135.4(FANCA):c.805G>A (p.Val269Ile)
|
rs1555566973
|
|
|
NM_000135.4(FANCA):c.808C>T (p.Leu270=)
|
|
|
|
NM_000135.4(FANCA):c.80C>T (p.Ala27Val)
|
|
|
|
NM_000135.4(FANCA):c.813G>C (p.Gln271His)
|
rs773057753
|
|
|
NM_000135.4(FANCA):c.825T>A (p.Ile275=)
|
|
|
|
NM_000135.4(FANCA):c.826+4A>G
|
|
|
|
NM_000135.4(FANCA):c.827-3C>T
|
|
|
|
NM_000135.4(FANCA):c.827-7T>G
|
rs370344285
|
|
|
NM_000135.4(FANCA):c.830C>T (p.Ala277Val)
|
rs35880318
|
|
|
NM_000135.4(FANCA):c.831_848dup (p.Leu278_Ala283dup)
|
rs761967813
|
|
|
NM_000135.4(FANCA):c.835G>T (p.Asp279Tyr)
|
rs1555566625
|
|
|
NM_000135.4(FANCA):c.837C>A (p.Asp279Glu)
|
rs752311383
|
|
|
NM_000135.4(FANCA):c.844_845delinsTA (p.Ala282Tyr)
|
rs2143581602
|
|
|
NM_000135.4(FANCA):c.848C>G (p.Ala283Gly)
|
rs770479721
|
|
|
NM_000135.4(FANCA):c.856C>G (p.Gln286Glu)
|
rs1291524243
|
|
|
NM_000135.4(FANCA):c.869C>G (p.Ser290Cys)
|
rs185984960
|
|
|
NM_000135.4(FANCA):c.869C>T (p.Ser290Phe)
|
rs185984960
|
|
|
NM_000135.4(FANCA):c.86G>T (p.Arg29Met)
|
rs764561391
|
|
|
NM_000135.4(FANCA):c.871A>G (p.Thr291Ala)
|
|
|
|
NM_000135.4(FANCA):c.874C>T (p.His292Tyr)
|
|
|
|
NM_000135.4(FANCA):c.877A>G (p.Lys293Glu)
|
|
|
|
NM_000135.4(FANCA):c.881T>C (p.Ile294Thr)
|
rs1555566545
|
|
|
NM_000135.4(FANCA):c.887G>C (p.Arg296Thr)
|
rs878853667
|
|
|
NM_000135.4(FANCA):c.88G>T (p.Val30Phe)
|
rs1160471115
|
|
|
NM_000135.4(FANCA):c.892T>C (p.Trp298Arg)
|
rs2040352921
|
|
|
NM_000135.4(FANCA):c.893+4T>C
|
rs2143580838
|
|
|
NM_000135.4(FANCA):c.893+4T>G
|
rs2143580838
|
|
|
NM_000135.4(FANCA):c.894-3C>T
|
rs2040234388
|
|
|
NM_000135.4(FANCA):c.894G>T (p.Trp298Cys)
|
|
|
|
NM_000135.4(FANCA):c.896_897delinsCT (p.Phe299Ser)
|
rs2040234249
|
|
|
NM_000135.4(FANCA):c.897C>G (p.Phe299Leu)
|
rs765341703
|
|
|
NM_000135.4(FANCA):c.8_28dup (p.Asp3_Ser9dup)
|
rs2143731691
|
|
|
NM_000135.4(FANCA):c.901G>A (p.Val301Met)
|
rs201134867
|
|
|
NM_000135.4(FANCA):c.901G>C (p.Val301Leu)
|
|
|
|
NM_000135.4(FANCA):c.911G>A (p.Gly304Glu)
|
rs745451374
|
|
|
NM_000135.4(FANCA):c.917C>A (p.Thr306Lys)
|
rs370852532
|
|
|
NM_000135.4(FANCA):c.917C>G (p.Thr306Arg)
|
rs370852532
|
|
|
NM_000135.4(FANCA):c.919C>A (p.Leu307Ile)
|
|
|
|
NM_000135.4(FANCA):c.923G>A (p.Gly308Asp)
|
rs1441102361
|
|
|
NM_000135.4(FANCA):c.927T>G (p.Ser309Arg)
|
|
|
|
NM_000135.4(FANCA):c.943C>A (p.Pro315Thr)
|
|
|
|
NM_000135.4(FANCA):c.95G>C (p.Arg32Thr)
|
rs770984577
|
|
|
NM_000135.4(FANCA):c.961A>G (p.Ser321Gly)
|
|
|
|
NM_000135.4(FANCA):c.962G>A (p.Ser321Asn)
|
|
|
|
NM_000135.4(FANCA):c.976C>G (p.Gln326Glu)
|
|
|
|
NM_000135.4(FANCA):c.97G>A (p.Glu33Lys)
|
rs2041101017
|
|
|
NM_000135.4(FANCA):c.980T>A (p.Ile327Lys)
|
rs2143558288
|
|
|
NM_000135.4(FANCA):c.986C>T (p.Thr329Ile)
|
rs757617469
|
|
|
NM_000135.4(FANCA):c.988C>G (p.His330Asp)
|
rs753951882
|
|
|
NM_000135.4(FANCA):c.98A>G (p.Glu33Gly)
|
|
|
|
NM_000135.4(FANCA):c.994C>A (p.Pro332Thr)
|
rs1056497675
|
|
|
NM_000135.4(FANCA):c.994C>T (p.Pro332Ser)
|
|
|
|
NM_000136.3(FANCC):c.-19C>T
|
|
|
|
NM_000136.3(FANCC):c.-59T>C
|
|
|
|
NM_000136.3(FANCC):c.-73A>G
|
rs1831191027
|
|
|
NM_000136.3(FANCC):c.-73A>T
|
rs1831191027
|
|
|
NM_000136.3(FANCC):c.-78-1G>C
|
rs2136103070
|
|
|
NM_000136.3(FANCC):c.-78-2A>G
|
rs587779898
|
|
|
NM_000136.3(FANCC):c.-78-3C>A
|
|
|
|
NM_000136.3(FANCC):c.-79+1del
|
|
|
|
NM_000136.3(FANCC):c.-79+2dup
|
rs2136457021
|
|
|
NM_000136.3(FANCC):c.-8T>C
|
|
|
|
NM_000136.3(FANCC):c.1006G>T (p.Ala336Ser)
|
rs78555330
|
|
|
NM_000136.3(FANCC):c.1009C>G (p.Leu337Val)
|
|
|
|
NM_000136.3(FANCC):c.1009C>T (p.Leu337Phe)
|
rs587779899
|
|
|
NM_000136.3(FANCC):c.1023T>G (p.Phe341Leu)
|
rs758439579
|
|
|
NM_000136.3(FANCC):c.1034C>T (p.Ser345Phe)
|
rs1348320350
|
|
|
NM_000136.3(FANCC):c.104G>A (p.Cys35Tyr)
|
rs143212932
|
|
|
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu)
|
rs1588070592
|
|
|
NM_000136.3(FANCC):c.1067C>A (p.Pro356His)
|
rs1060502517
|
|
|
NM_000136.3(FANCC):c.1072+3G>C
|
rs2134691883
|
|
|
NM_000136.3(FANCC):c.1072+5G>A
|
|
|
|
NM_000136.3(FANCC):c.1079C>G (p.Pro360Arg)
|
rs730881721
|
|
|
NM_000136.3(FANCC):c.1081C>T (p.Arg361Trp)
|
rs768508859
|
|
|
NM_000136.3(FANCC):c.1085G>T (p.Gly362Val)
|
rs1246894660
|
|
|
NM_000136.3(FANCC):c.1087C>G (p.His363Asp)
|
rs2134632030
|
|
|
NM_000136.3(FANCC):c.1088A>G (p.His363Arg)
|
rs2072244970
|
|
|
NM_000136.3(FANCC):c.1093C>T (p.Leu365Phe)
|
rs1060502514
|
|
|
NM_000136.3(FANCC):c.1098G>C (p.Gln366His)
|
rs1564652354
|
|
|
NM_000136.3(FANCC):c.110A>C (p.His37Pro)
|
rs1564794663
|
|
|
NM_000136.3(FANCC):c.1112T>C (p.Ile371Thr)
|
rs2072242960
|
|
|
NM_000136.3(FANCC):c.1129G>A (p.Glu377Lys)
|
rs1588060425
|
|
|
NM_000136.3(FANCC):c.112G>C (p.Val38Leu)
|
rs778951584
|
|
|
NM_000136.3(FANCC):c.1131A>C (p.Glu377Asp)
|
rs2134631019
|
|
|
NM_000136.3(FANCC):c.1132G>A (p.Ala378Thr)
|
rs2134630989
|
|
|
NM_000136.3(FANCC):c.1136T>C (p.Val379Ala)
|
rs745693332
|
|
|
NM_000136.3(FANCC):c.1148C>T (p.Thr383Ile)
|
|
|
|
NM_000136.3(FANCC):c.1154+2dup
|
rs1386979449
|
|
|
NM_000136.3(FANCC):c.1154G>A (p.Gly385Glu)
|
|
|
|
NM_000136.3(FANCC):c.1162G>A (p.Gly388Arg)
|
rs371897078
|
|
|
NM_000136.3(FANCC):c.1166G>A (p.Gly389Asp)
|
rs2071942181
|
|
|
NM_000136.3(FANCC):c.1194T>G (p.Ile398Met)
|
rs752274299
|
|
|
NM_000136.3(FANCC):c.1198T>G (p.Phe400Val)
|
rs1480679034
|
|
|
NM_000136.3(FANCC):c.120G>C (p.Gln40His)
|
rs905858585
|
|
|
NM_000136.3(FANCC):c.1217T>C (p.Met406Thr)
|
rs1159499581
|
|
|
NM_000136.3(FANCC):c.1218G>C (p.Met406Ile)
|
rs766086120
|
|
|
NM_000136.3(FANCC):c.1225G>A (p.Glu409Lys)
|
rs1209529082
|
|
|
NM_000136.3(FANCC):c.1235T>C (p.Leu412Pro)
|
|
|
|
NM_000136.3(FANCC):c.1243G>A (p.Ala415Thr)
|
|
|
|
NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu)
|
rs550462055
|
|
|
NM_000136.3(FANCC):c.1244C>T (p.Ala415Val)
|
rs550462055
|
|
|
NM_000136.3(FANCC):c.1252_1253delinsGA (p.Pro418Asp)
|
rs1064795135
|
|
|
NM_000136.3(FANCC):c.1256C>G (p.Pro419Arg)
|
rs864622514
|
|
|
NM_000136.3(FANCC):c.1270T>G (p.Trp424Gly)
|
|
|
|
NM_000136.3(FANCC):c.1283T>G (p.Phe428Cys)
|
rs2134547742
|
|
|
NM_000136.3(FANCC):c.1283_1285del (p.Phe428del)
|
rs1588047930
|
|
|
NM_000136.3(FANCC):c.1285TAC[1] (p.Tyr430del)
|
rs1210997135
|
|
|
NM_000136.3(FANCC):c.1294C>T (p.Pro432Ser)
|
rs2134547266
|
|
|
NM_000136.3(FANCC):c.1297C>A (p.Arg433Ser)
|
rs369684405
|
|
|
NM_000136.3(FANCC):c.1300G>A (p.Asp434Asn)
|
rs864622522
|
|
|
NM_000136.3(FANCC):c.1300G>C (p.Asp434His)
|
|
|
|
NM_000136.3(FANCC):c.1301A>G (p.Asp434Gly)
|
rs2134547041
|
|
|
NM_000136.3(FANCC):c.1307G>A (p.Arg436Lys)
|
rs201549126
|
|
|
NM_000136.3(FANCC):c.131T>C (p.Phe44Ser)
|
rs1588353402
|
|
|
NM_000136.3(FANCC):c.1329+5del
|
rs878853670
|
|
|
NM_000136.3(FANCC):c.1329G>A (p.Met443Ile)
|
rs772133680
|
|
|
NM_000136.3(FANCC):c.1330-10T>C
|
rs1386511892
|
|
|
NM_000136.3(FANCC):c.1330G>A (p.Val444Ile)
|
rs1554828492
|
|
|
NM_000136.3(FANCC):c.1346T>C (p.Val449Ala)
|
rs2134456617
|
|
|
NM_000136.3(FANCC):c.134T>G (p.Leu45Arg)
|
rs2136100589
|
|
|
NM_000136.3(FANCC):c.1358T>C (p.Leu453Pro)
|
|
|
|
NM_000136.3(FANCC):c.1361T>C (p.Leu454Pro)
|
rs1554828451
|
|
|
NM_000136.3(FANCC):c.1364C>T (p.Ala455Val)
|
rs2071516903
|
|
|
NM_000136.3(FANCC):c.1368G>T (p.Met456Ile)
|
rs863224609
|
|
|
NM_000136.3(FANCC):c.1375A>G (p.Ser459Gly)
|
|
|
|
NM_000136.3(FANCC):c.1388C>T (p.Ser463Leu)
|
rs1588029402
|
|
|
NM_000136.3(FANCC):c.1399C>G (p.Leu467Val)
|
rs1554828405
|
|
|
NM_000136.3(FANCC):c.140A>C (p.Lys47Thr)
|
rs1588353368
|
|
|
NM_000136.3(FANCC):c.141G>T (p.Lys47Asn)
|
|
|
|
NM_000136.3(FANCC):c.1427A>G (p.Asp476Gly)
|
rs1375711161
|
|
|
NM_000136.3(FANCC):c.1444_1446del (p.Pro482del)
|
rs773270231
|
|
|
NM_000136.3(FANCC):c.1450C>A (p.Gln484Lys)
|
rs764271678
|
|
|
NM_000136.3(FANCC):c.1456C>A (p.Leu486Met)
|
|
|
|
NM_000136.3(FANCC):c.1461C>G (p.Ile487Met)
|
rs2134455188
|
|
|
NM_000136.3(FANCC):c.1471C>G (p.Leu491Val)
|
|
|
|
NM_000136.3(FANCC):c.1471CTC[1] (p.Leu492del)
|
rs2071510744
|
|
|
NM_000136.3(FANCC):c.1478A>G (p.Asn493Ser)
|
|
|
|
NM_000136.3(FANCC):c.1486C>T (p.Leu496Phe)
|
|
|
|
NM_000136.3(FANCC):c.14C>T (p.Ser5Leu)
|
rs1831182314
|
|
|
NM_000136.3(FANCC):c.1501G>A (p.Gly501Ser)
|
rs746540247
|
|
|
NM_000136.3(FANCC):c.1502G>A (p.Gly501Asp)
|
rs536599109
|
|
|
NM_000136.3(FANCC):c.1502G>T (p.Gly501Val)
|
rs536599109
|
|
|
NM_000136.3(FANCC):c.1504C>T (p.His502Tyr)
|
|
|
|
NM_000136.3(FANCC):c.1513G>T (p.Ala505Ser)
|
rs780179187
|
|
|
NM_000136.3(FANCC):c.1518G>C (p.Trp506Cys)
|
rs1554828332
|
|
|
NM_000136.3(FANCC):c.1520A>T (p.Asp507Val)
|
|
|
|
NM_000136.3(FANCC):c.1529C>A (p.Thr510Asn)
|
rs1233501553
|
|
|
NM_000136.3(FANCC):c.1532T>C (p.Leu511Pro)
|
rs1554828313
|
|
|
NM_000136.3(FANCC):c.1533+5G>A
|
rs1588028749
|
|
|
NM_000136.3(FANCC):c.1533+6T>A
|
rs2071505631
|
|
|
NM_000136.3(FANCC):c.1533G>C (p.Leu511=)
|
rs2071506268
|
|
|
NM_000136.3(FANCC):c.1534-5T>G
|
rs730881727
|
|
|
NM_000136.3(FANCC):c.1542C>G (p.His514Gln)
|
|
|
|
NM_000136.3(FANCC):c.1546G>A (p.Ala516Thr)
|
|
|
|
NM_000136.3(FANCC):c.1551G>C (p.Glu517Asp)
|
rs1588008452
|
|
|
NM_000136.3(FANCC):c.1563G>C (p.Glu521Asp)
|
rs2071088182
|
|
|
NM_000136.3(FANCC):c.156G>C (p.Leu52Phe)
|
rs1060502518
|
|
|
NM_000136.3(FANCC):c.1573T>C (p.Phe525Leu)
|
rs971409322
|
|
|
NM_000136.3(FANCC):c.1585A>C (p.Thr529Pro)
|
rs587778326
|
|
|
NM_000136.3(FANCC):c.1597T>G (p.Trp533Gly)
|
rs730881728
|
|
|
NM_000136.3(FANCC):c.1609G>T (p.Gly537Cys)
|
|
|
|
NM_000136.3(FANCC):c.1610G>T (p.Gly537Val)
|
|
|
|
NM_000136.3(FANCC):c.1615G>A (p.Glu539Lys)
|
rs2071085287
|
|
|
NM_000136.3(FANCC):c.1618A>C (p.Ser540Arg)
|
rs1588008112
|
|
|
NM_000136.3(FANCC):c.1621C>T (p.Pro541Ser)
|
rs2071084988
|
|
|
NM_000136.3(FANCC):c.1627T>C (p.Ser543Pro)
|
rs1303872874
|
|
|
NM_000136.3(FANCC):c.1627_1628delinsAA (p.Ser543Lys)
|
rs864622417
|
|
|
NM_000136.3(FANCC):c.1628C>T (p.Ser543Leu)
|
|
|
|
NM_000136.3(FANCC):c.1631A>G (p.Glu544Gly)
|
|
|
|
NM_000136.3(FANCC):c.1636C>G (p.Leu546Val)
|
rs2071083777
|
|
|
NM_000136.3(FANCC):c.1640C>T (p.Ala547Val)
|
rs2071083482
|
|
|
NM_000136.3(FANCC):c.1641_1658dup (p.Lys552_Glu553insAspArgGluLeuLeuLys)
|
rs1588007941
|
|
|
NM_000136.3(FANCC):c.1643G>T (p.Arg548Leu)
|
|
|
|
NM_000136.3(FANCC):c.164T>C (p.Met55Thr)
|
rs1060502513
|
|
|
NM_000136.3(FANCC):c.165+5G>T
|
|
|
|
NM_000136.3(FANCC):c.1654A>C (p.Lys552Gln)
|
rs2071082816
|
|
|
NM_000136.3(FANCC):c.1655A>G (p.Lys552Arg)
|
rs1197938479
|
|
|
NM_000136.3(FANCC):c.166-3C>T
|
rs1554857868
|
|
|
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)
|
rs370974124
|
|
|
NM_000136.3(FANCC):c.1669C>G (p.Gln557Glu)
|
rs863224610
|
|
|
NM_000136.3(FANCC):c.166G>T (p.Asp56Tyr)
|
|
|
|
NM_000136.3(FANCC):c.167A>T (p.Asp56Val)
|
rs759662786
|
|
|
NM_000136.3(FANCC):c.169T>G (p.Ser57Ala)
|
|
|
|
NM_000136.3(FANCC):c.173A>G (p.Asn58Ser)
|
rs1831061339
|
|
|
NM_000136.3(FANCC):c.188G>C (p.Arg63Thr)
|
rs1588350373
|
|
|
NM_000136.3(FANCC):c.189A>T (p.Arg63Ser)
|
rs773388565
|
|
|
NM_000136.3(FANCC):c.197C>T (p.Thr66Ile)
|
rs762234072
|
|
|
NM_000136.3(FANCC):c.213G>T (p.Leu71Phe)
|
rs2136091002
|
|
|
NM_000136.3(FANCC):c.214G>T (p.Ala72Ser)
|
rs567465885
|
|
|
NM_000136.3(FANCC):c.21T>A (p.Asp7Glu)
|
|
|
|
NM_000136.3(FANCC):c.228G>T (p.Trp76Cys)
|
rs876661132
|
|
|
NM_000136.3(FANCC):c.232C>G (p.Pro78Ala)
|
rs2136090802
|
|
|
NM_000136.3(FANCC):c.23T>C (p.Leu8Pro)
|
rs752249253
|
|
|
NM_000136.3(FANCC):c.246A>G (p.Ala82=)
|
rs1554857810
|
|
|
NM_000136.3(FANCC):c.254A>G (p.Glu85Gly)
|
|
|
|
NM_000136.3(FANCC):c.266T>G (p.Ile89Ser)
|
rs2136049598
|
|
|
NM_000136.3(FANCC):c.268C>A (p.Leu90Ile)
|
rs2136049561
|
|
|
NM_000136.3(FANCC):c.273A>G (p.Ile91Met)
|
|
|
|
NM_000136.3(FANCC):c.287G>T (p.Cys96Phe)
|
|
|
|
NM_000136.3(FANCC):c.292A>G (p.Ile98Val)
|
|
|
|
NM_000136.3(FANCC):c.293T>C (p.Ile98Thr)
|
rs1830583670
|
|
|
NM_000136.3(FANCC):c.328C>G (p.Leu110Val)
|
rs1554856102
|
|
|
NM_000136.3(FANCC):c.328C>T (p.Leu110Phe)
|
|
|
|
NM_000136.3(FANCC):c.340A>G (p.Ile114Val)
|
rs1830580247
|
|
|
NM_000136.3(FANCC):c.340A>T (p.Ile114Leu)
|
rs1830580247
|
|
|
NM_000136.3(FANCC):c.345+3A>G
|
|
|
|
NM_000136.3(FANCC):c.346G>C (p.Gly116Arg)
|
rs1440493340
|
|
|
NM_000136.3(FANCC):c.349_360del (p.Val117_His120del)
|
rs1825723799
|
|
|
NM_000136.3(FANCC):c.34T>G (p.Tyr12Asp)
|
rs766173332
|
|
|
NM_000136.3(FANCC):c.34_36del (p.Tyr12del)
|
rs1554858333
|
|
|
NM_000136.3(FANCC):c.355T>C (p.Ser119Pro)
|
|
|
|
NM_000136.3(FANCC):c.35A>G (p.Tyr12Cys)
|
rs762884109
|
|
|
NM_000136.3(FANCC):c.371C>T (p.Ala124Val)
|
rs374602991
|
|
|
NM_000136.3(FANCC):c.374T>C (p.Leu125Pro)
|
rs2135588560
|
|
|
NM_000136.3(FANCC):c.390A>T (p.Glu130Asp)
|
rs1419677503
|
|
|
NM_000136.3(FANCC):c.391G>A (p.Val131Ile)
|
rs543546719
|
|
|
NM_000136.3(FANCC):c.3G>A (p.Met1Ile)
|
rs1368374192
|
|
|
NM_000136.3(FANCC):c.406C>G (p.Gln136Glu)
|
|
|
|
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg)
|
rs1564720454
|
|
|
NM_000136.3(FANCC):c.422C>T (p.Ala141Val)
|
rs2135587894
|
|
|
NM_000136.3(FANCC):c.424C>G (p.Pro142Ala)
|
rs864622581
|
|
|
NM_000136.3(FANCC):c.425C>A (p.Pro142His)
|
rs1064793605
|
|
|
NM_000136.3(FANCC):c.430G>T (p.Asp144Tyr)
|
rs2135587786
|
|
|
NM_000136.3(FANCC):c.432T>G (p.Asp144Glu)
|
rs1825715851
|
|
|
NM_000136.3(FANCC):c.433T>C (p.Tyr145His)
|
rs751054264
|
|
|
NM_000136.3(FANCC):c.437A>C (p.Tyr146Ser)
|
rs1564720359
|
|
|
NM_000136.3(FANCC):c.439C>G (p.Pro147Ala)
|
|
|
|
NM_000136.3(FANCC):c.456+6T>C
|
|
|
|
NM_000136.3(FANCC):c.457-10del
|
rs763416214
|
|
|
NM_000136.3(FANCC):c.457-16T>A
|
|
|
|
NM_000136.3(FANCC):c.460G>C (p.Val154Leu)
|
|
|
|
NM_000136.3(FANCC):c.469T>A (p.Leu157Ile)
|
rs1825652301
|
|
|
NM_000136.3(FANCC):c.470T>C (p.Leu157Ser)
|
rs200828924
|
|
|
NM_000136.3(FANCC):c.485G>C (p.Arg162Thr)
|
rs1825650685
|
|
|
NM_000136.3(FANCC):c.491A>T (p.Asn164Ile)
|
rs950623649
|
|
|
NM_000136.3(FANCC):c.494A>G (p.His165Arg)
|
|
|
|
NM_000136.3(FANCC):c.509A>G (p.Asn170Ser)
|
rs749322338
|
|
|
NM_000136.3(FANCC):c.511A>C (p.Thr171Pro)
|
|
|
|
NM_000136.3(FANCC):c.511A>G (p.Thr171Ala)
|
rs1554842592
|
|
|
NM_000136.3(FANCC):c.514C>G (p.Gln172Glu)
|
rs769998628
|
|
|
NM_000136.3(FANCC):c.521+5G>A
|
rs1301899973
|
|
|
NM_000136.3(FANCC):c.521+5del
|
rs2135578132
|
|
|
NM_000136.3(FANCC):c.522-16_522-14del
|
|
|
|
NM_000136.3(FANCC):c.523A>G (p.Met175Val)
|
rs876661083
|
|
|
NM_000136.3(FANCC):c.529C>T (p.Pro177Ser)
|
|
|
|
NM_000136.3(FANCC):c.534G>C (p.Glu178Asp)
|
rs776694218
|
|
|
NM_000136.3(FANCC):c.53A>C (p.Lys18Thr)
|
rs2136101612
|
|
|
NM_000136.3(FANCC):c.540_557del (p.Ala181_Val186del)
|
|
|
|
NM_000136.3(FANCC):c.547C>G (p.Leu183Val)
|
|
|
|
NM_000136.3(FANCC):c.560G>A (p.Cys187Tyr)
|
rs1239389302
|
|
|
NM_000136.3(FANCC):c.565C>A (p.Pro189Thr)
|
rs377620735
|
|
|
NM_000136.3(FANCC):c.568C>T (p.Leu190Phe)
|
rs1800364
|
|
|
NM_000136.3(FANCC):c.576C>G (p.Thr192=)
|
|
|
|
NM_000136.3(FANCC):c.584A>G (p.Asp195Gly)
|
rs1800365
|
|
|
NM_000136.3(FANCC):c.585T>G (p.Asp195Glu)
|
rs2135427899
|
|
|
NM_000136.3(FANCC):c.586G>A (p.Val196Ile)
|
|
|
|
NM_000136.3(FANCC):c.591C>G (p.Asp197Glu)
|
rs1457631500
|
|
|
NM_000136.3(FANCC):c.592C>A (p.Pro198Thr)
|
|
|
|
NM_000136.3(FANCC):c.596T>C (p.Leu199Pro)
|
rs143213659
|
|
|
NM_000136.3(FANCC):c.599T>A (p.Val200Glu)
|
rs2135427579
|
|
|
NM_000136.3(FANCC):c.603G>T (p.Glu201Asp)
|
rs1060502516
|
|
|
NM_000136.3(FANCC):c.607C>T (p.Leu203Phe)
|
rs878853672
|
|
|
NM_000136.3(FANCC):c.610C>T (p.Leu204Phe)
|
rs1830064754
|
|
|
NM_000136.3(FANCC):c.61G>C (p.Val21Leu)
|
rs772386467
|
|
|
NM_000136.3(FANCC):c.632C>T (p.Pro211Leu)
|
rs140781259
|
|
|
NM_000136.3(FANCC):c.641T>A (p.Ile214Asn)
|
|
|
|
NM_000136.3(FANCC):c.659T>G (p.Phe220Cys)
|
rs1012529150
|
|
|
NM_000136.3(FANCC):c.673G>A (p.Glu225Lys)
|
rs374176091
|
|
|
NM_000136.3(FANCC):c.676G>A (p.Ala226Thr)
|
|
|
|
NM_000136.3(FANCC):c.683T>C (p.Leu228Ser)
|
rs2135426128
|
|
|
NM_000136.3(FANCC):c.686+5G>A
|
rs1064794691
|
|
|
NM_000136.3(FANCC):c.686T>G (p.Leu229Arg)
|
|
|
|
NM_000136.3(FANCC):c.687G>A (p.Leu229=)
|
rs864622527
|
|
|
NM_000136.3(FANCC):c.689AGA[1] (p.Lys231del)
|
rs3831244
|
|
|
NM_000136.3(FANCC):c.700C>G (p.Leu234Val)
|
rs1827537458
|
|
|
NM_000136.3(FANCC):c.704C>G (p.Pro235Arg)
|
|
|
|
NM_000136.3(FANCC):c.707T>C (p.Met236Thr)
|
|
|
|
NM_000136.3(FANCC):c.718G>A (p.Val240Ile)
|
rs866787972
|
|
|
NM_000136.3(FANCC):c.733C>G (p.Arg245Gly)
|
|
|
|
NM_000136.3(FANCC):c.742C>T (p.Pro248Ser)
|
|
|
|
NM_000136.3(FANCC):c.743C>G (p.Pro248Arg)
|
|
|
|
NM_000136.3(FANCC):c.748C>T (p.Leu250Phe)
|
rs778966663
|
|
|
NM_000136.3(FANCC):c.749T>C (p.Leu250Pro)
|
rs1827530053
|
|
|
NM_000136.3(FANCC):c.760A>G (p.Met254Val)
|
rs757294568
|
|
|
NM_000136.3(FANCC):c.764T>C (p.Leu255Pro)
|
rs767634640
|
|
|
NM_000136.3(FANCC):c.773T>C (p.Phe258Ser)
|
|
|
|
NM_000136.3(FANCC):c.778A>G (p.Lys260Glu)
|
rs1282238372
|
|
|
NM_000136.3(FANCC):c.797G>A (p.Arg266Lys)
|
|
|
|
NM_000136.3(FANCC):c.803G>A (p.Cys268Tyr)
|
rs2135165898
|
|
|
NM_000136.3(FANCC):c.80C>G (p.Thr27Ser)
|
rs1489419613
|
|
|
NM_000136.3(FANCC):c.80C>T (p.Thr27Ile)
|
rs1489419613
|
|
|
NM_000136.3(FANCC):c.811A>G (p.Arg271Gly)
|
rs2135165709
|
|
|
NM_000136.3(FANCC):c.812G>C (p.Arg271Thr)
|
|
|
|
NM_000136.3(FANCC):c.813G>T (p.Arg271Ser)
|
rs2135165634
|
|
|
NM_000136.3(FANCC):c.814A>G (p.Ile272Val)
|
|
|
|
NM_000136.3(FANCC):c.815T>G (p.Ile272Ser)
|
rs1827523728
|
|
|
NM_000136.3(FANCC):c.816C>G (p.Ile272Met)
|
rs55719336
|
|
|
NM_000136.3(FANCC):c.820T>A (p.Cys274Ser)
|
rs1040503080
|
|
|
NM_000136.3(FANCC):c.821G>T (p.Cys274Phe)
|
rs2135165383
|
|
|
NM_000136.3(FANCC):c.827T>C (p.Ile276Thr)
|
|
|
|
NM_000136.3(FANCC):c.838T>C (p.Ser280Pro)
|
rs1588134159
|
|
|
NM_000136.3(FANCC):c.843+5G>T
|
rs369082921
|
|
|
NM_000136.3(FANCC):c.844-6T>G
|
rs1417324884
|
|
|
NM_000136.3(FANCC):c.847C>A (p.Gln283Lys)
|
rs1564667865
|
|
|
NM_000136.3(FANCC):c.849A>G (p.Gln283=)
|
rs2134968632
|
|
|
NM_000136.3(FANCC):c.854C>G (p.Ala285Gly)
|
|
|
|
NM_000136.3(FANCC):c.857G>A (p.Cys286Tyr)
|
|
|
|
NM_000136.3(FANCC):c.862C>T (p.Pro288Ser)
|
rs1588106749
|
|
|
NM_000136.3(FANCC):c.866C>T (p.Ala289Val)
|
rs777732881
|
|
|
NM_000136.3(FANCC):c.874C>T (p.Arg292Trp)
|
rs1306075116
|
|
|
NM_000136.3(FANCC):c.875G>C (p.Arg292Pro)
|
rs747060782
|
|
|
NM_000136.3(FANCC):c.880G>A (p.Val294Ile)
|
|
|
|
NM_000136.3(FANCC):c.887A>G (p.Glu296Gly)
|
rs2134967462
|
|
|
NM_000136.3(FANCC):c.891G>T (p.Met297Ile)
|
rs1554833192
|
|
|
NM_000136.3(FANCC):c.896+5A>T
|
rs1826005529
|
|
|
NM_000136.3(FANCC):c.897-12T>G
|
|
|
|
NM_000136.3(FANCC):c.897G>C (p.Arg299Ser)
|
|
|
|
NM_000136.3(FANCC):c.900T>G (p.Cys300Trp)
|
rs2134924997
|
|
|
NM_000136.3(FANCC):c.901G>A (p.Ala301Thr)
|
rs972738983
|
|
|
NM_000136.3(FANCC):c.902C>T (p.Ala301Val)
|
rs553689536
|
|
|
NM_000136.3(FANCC):c.911A>C (p.Glu304Ala)
|
|
|
|
NM_000136.3(FANCC):c.913A>G (p.Thr305Ala)
|
rs1397912085
|
|
|
NM_000136.3(FANCC):c.918T>G (p.Asp306Glu)
|
rs1564665867
|
|
|
NM_000136.3(FANCC):c.922G>A (p.Ala308Thr)
|
|
|
|
NM_000136.3(FANCC):c.956C>A (p.Thr319Lys)
|
|
|
|
NM_000136.3(FANCC):c.972A>C (p.Glu324Asp)
|
rs1261385032
|
|
|
NM_000136.3(FANCC):c.990C>A (p.Ser330Arg)
|
rs374915316
|
|
|
NM_000136.3(FANCC):c.992A>G (p.Lys331Arg)
|
rs756408779
|
|
|
NM_000136.3(FANCC):c.995A>G (p.Gln332Arg)
|
rs781746980
|
|
|
NM_000136.3(FANCC):c.997-3C>T
|
rs878853674
|
|
|
NM_000474.4(TWIST1):c.110G>A (p.Arg37His)
|
|
|
|
NM_000474.4(TWIST1):c.142G>A (p.Gly48Ser)
|
|
|
|
NM_000474.4(TWIST1):c.161G>T (p.Gly54Val)
|
rs1788590971
|
|
|
NM_000474.4(TWIST1):c.185GCG[3] (p.Gly63_Asp64insGly)
|
|
|
|
NM_000474.4(TWIST1):c.203G>A (p.Ser68Asn)
|
rs1051003265
|
|
|
NM_000474.4(TWIST1):c.203G>T (p.Ser68Ile)
|
|
|
|
NM_000474.4(TWIST1):c.241_264dup (p.Gly88_Gly89insCysGlyGlyGlyGlyGlyAlaGly)
|
|
|
|
NM_000474.4(TWIST1):c.245GCG[7] (p.Gly85_Gly86dup)
|
rs754552080
|
|
|
NM_000474.4(TWIST1):c.253_276dup (p.Gly85_Gly92dup)
|
rs544465774
|
|
|
NM_000474.4(TWIST1):c.256_276del (p.Gly86_Gly92del)
|
rs544465774
|
|
|
NM_000474.4(TWIST1):c.259_276dup (p.Gly92_Ser93insAlaGlyGlyGlyGlyGly)
|
|
|
|
NM_000474.4(TWIST1):c.262GGC[6] (p.Gly92dup)
|
rs750238627
|
|
|
NM_000474.4(TWIST1):c.273_293dup (p.Gly92_Gly98dup)
|
rs1554442039
|
|
|
NM_000474.4(TWIST1):c.276_293del (p.Ser94_Ser99del)
|
rs772470139
|
|
|
NM_000474.4(TWIST1):c.276_293dup (p.Ser99_Pro100insSerSerGlyGlyGlySer)
|
|
|
|
NM_000474.4(TWIST1):c.277AGC[5] (p.Ser95_Gly96insSerSer)
|
|
|
|
NM_000474.4(TWIST1):c.27_35dup (p.Pro12_Ala13insValSerPro)
|
|
|
|
NM_000474.4(TWIST1):c.328C>G (p.Arg110Gly)
|
|
|
|
NM_000474.4(TWIST1):c.328C>T (p.Arg110Trp)
|
rs1585617188
|
|
|
NM_000474.4(TWIST1):c.341A>C (p.Asn114Thr)
|
rs1554442021
|
|
|
NM_000474.4(TWIST1):c.359G>A (p.Arg120His)
|
|
|
|
NM_000474.4(TWIST1):c.361A>C (p.Thr121Pro)
|
rs1788582586
|
|
|
NM_000474.4(TWIST1):c.367T>C (p.Ser123Pro)
|
rs1554442008
|
|
|
NM_000474.4(TWIST1):c.375C>G (p.Asn125Lys)
|
|
|
|
NM_000474.4(TWIST1):c.388G>C (p.Ala130Pro)
|
|
|
|
NM_000474.4(TWIST1):c.395_415del (p.Arg132_Leu138del)
|
rs1554441992
|
|
|
NM_000474.4(TWIST1):c.405C>G (p.Ile135Met)
|
rs757121861
|
|
|
NM_000474.4(TWIST1):c.406C>A (p.Pro136Thr)
|
rs1585616989
|
|
|
NM_000474.4(TWIST1):c.406C>G (p.Pro136Ala)
|
|
|
|
NM_000474.4(TWIST1):c.421G>A (p.Asp141Asn)
|
|
|
|
NM_000474.4(TWIST1):c.437T>C (p.Ile146Thr)
|
rs1788580225
|
|
|
NM_000474.4(TWIST1):c.437T>G (p.Ile146Ser)
|
rs1788580225
|
|
|
NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu)
|
rs1554441982
|
|
|
NM_000474.4(TWIST1):c.476T>C (p.Leu159Pro)
|
rs1585616825
|
|
|
NM_000474.4(TWIST1):c.484del (p.Val162fs)
|
rs1788579060
|
|
|
NM_000474.4(TWIST1):c.487C>T (p.Leu163Phe)
|
rs867957820
|
|
|
NM_000474.4(TWIST1):c.488T>C (p.Leu163Pro)
|
|
|
|
NM_000474.4(TWIST1):c.508T>A (p.Ser170Thr)
|
|
|
|
NM_000474.4(TWIST1):c.510dup (p.Lys171fs)
|
rs2115396517
|
|
|
NM_000474.4(TWIST1):c.530_537dup (p.His180fs)
|
rs2115396467
|
|
|
NM_000474.4(TWIST1):c.560T>C (p.Phe187Ser)
|
rs1554441944
|
|
|
NM_000474.4(TWIST1):c.565G>A (p.Val189Ile)
|
|
|
|
NM_000474.4(TWIST1):c.94G>C (p.Gly32Arg)
|
|
|
|
NM_000751.3(CHRND):c.1010C>A (p.Thr337Lys)
|
|
|
|
NM_000751.3(CHRND):c.102A>C (p.Gln34His)
|
rs780478522
|
|
|
NM_000751.3(CHRND):c.1033G>C (p.Glu345Gln)
|
rs758772612
|
|
|
NM_000751.3(CHRND):c.1047+3G>A
|
|
|
|
NM_000751.3(CHRND):c.1047+5G>T
|
rs780881475
|
|
|
NM_000751.3(CHRND):c.1071G>C (p.Glu357Asp)
|
rs1235160365
|
|
|
NM_000751.3(CHRND):c.1072C>T (p.Leu358Phe)
|
|
|
|
NM_000751.3(CHRND):c.107A>G (p.Lys36Arg)
|
|
|
|
NM_000751.3(CHRND):c.1083G>C (p.Met361Ile)
|
|
|
|
NM_000751.3(CHRND):c.1085C>G (p.Ser362Cys)
|
rs1054895490
|
|
|
NM_000751.3(CHRND):c.1088G>C (p.Arg363Pro)
|
|
|
|
NM_000751.3(CHRND):c.1098G>C (p.Glu366Asp)
|
|
|
|
NM_000751.3(CHRND):c.1106C>G (p.Pro369Arg)
|
rs1691800096
|
|
|
NM_000751.3(CHRND):c.1123G>T (p.Val375Leu)
|
|
|
|
NM_000751.3(CHRND):c.1151T>A (p.Ile384Asn)
|
|
|
|
NM_000751.3(CHRND):c.1167G>T (p.Glu389Asp)
|
|
|
|
NM_000751.3(CHRND):c.1186C>T (p.Arg396Cys)
|
|
|
|
NM_000751.3(CHRND):c.1187G>A (p.Arg396His)
|
rs770837281
|
|
|
NM_000751.3(CHRND):c.118A>G (p.Lys40Glu)
|
rs1475752234
|
|
|
NM_000751.3(CHRND):c.1203C>G (p.Phe401Leu)
|
|
|
|
NM_000751.3(CHRND):c.1218G>T (p.Glu406Asp)
|
|
|
|
NM_000751.3(CHRND):c.1219C>T (p.Arg407Trp)
|
rs766721840
|
|
|
NM_000751.3(CHRND):c.1223A>G (p.His408Arg)
|
|
|
|
NM_000751.3(CHRND):c.1237C>A (p.Arg413Ser)
|
rs1242056715
|
|
|
NM_000751.3(CHRND):c.1238G>A (p.Arg413His)
|
|
|
|
NM_000751.3(CHRND):c.1238G>T (p.Arg413Leu)
|
|
|
|
NM_000751.3(CHRND):c.1252C>G (p.Arg418Gly)
|
|
|
|
NM_000751.3(CHRND):c.1252C>T (p.Arg418Cys)
|
|
|
|
NM_000751.3(CHRND):c.1290A>T (p.Glu430Asp)
|
rs1691812180
|
|
|
NM_000751.3(CHRND):c.1298A>G (p.Asn433Ser)
|
|
|
|
NM_000751.3(CHRND):c.1325C>T (p.Ala442Val)
|
|
|
|
NM_000751.3(CHRND):c.1345_1346del (p.Met449fs)
|
rs1553575435
|
|
|
NM_000751.3(CHRND):c.1367del (p.Asn456fs)
|
rs775837014
|
|
|
NM_000751.3(CHRND):c.1371+1G>T
|
|
|
|
NM_000751.3(CHRND):c.1375A>G (p.Lys459Glu)
|
|
|
|
NM_000751.3(CHRND):c.1391G>A (p.Arg464Gln)
|
rs1574638484
|
|
|
NM_000751.3(CHRND):c.1399C>T (p.Arg467Cys)
|
|
|
|
NM_000751.3(CHRND):c.13G>T (p.Val5Leu)
|
|
|
|
NM_000751.3(CHRND):c.1403C>G (p.Thr468Arg)
|
|
|
|
NM_000751.3(CHRND):c.1403C>T (p.Thr468Ile)
|
rs374459301
|
|
|
NM_000751.3(CHRND):c.140A>T (p.His47Leu)
|
|
|
|
NM_000751.3(CHRND):c.1411C>G (p.Arg471Gly)
|
rs533115724
|
|
|
NM_000751.3(CHRND):c.1433C>T (p.Thr478Met)
|
|
|
|
NM_000751.3(CHRND):c.1435C>A (p.Pro479Thr)
|
|
|
|
NM_000751.3(CHRND):c.1436C>G (p.Pro479Arg)
|
|
|
|
NM_000751.3(CHRND):c.1442TGG[2] (p.Val483del)
|
|
|
|
NM_000751.3(CHRND):c.1444G>C (p.Val482Leu)
|
|
|
|
NM_000751.3(CHRND):c.1480T>A (p.Tyr494Asn)
|
|
|
|
NM_000751.3(CHRND):c.1484A>G (p.Asn495Ser)
|
|
|
|
NM_000751.3(CHRND):c.148G>A (p.Glu50Lys)
|
|
|
|
NM_000751.3(CHRND):c.1515C>A (p.Asp505Glu)
|
rs2106215790
|
|
|
NM_000751.3(CHRND):c.1523C>G (p.Ser508Cys)
|
|
|
|
NM_000751.3(CHRND):c.1528A>G (p.Asn510Asp)
|
|
|
|
NM_000751.3(CHRND):c.1530C>G (p.Asn510Lys)
|
rs114463490
|
|
|
NM_000751.3(CHRND):c.1535A>G (p.Gln512Arg)
|
rs2106215821
|
|
|
NM_000751.3(CHRND):c.1553A>G (p.Ter518Trp)
|
rs1203669806
|
|
|
NM_000751.3(CHRND):c.1554G>T (p.Ter518Tyr)
|
rs780761579
|
|
|
NM_000751.3(CHRND):c.158A>G (p.Asp53Gly)
|
|
|
|
NM_000751.3(CHRND):c.167T>C (p.Leu56Pro)
|
rs1553573832
|
|
|
NM_000751.3(CHRND):c.170C>T (p.Ala57Val)
|
|
|
|
NM_000751.3(CHRND):c.178C>G (p.Leu60Val)
|
rs200743096
|
|
|
NM_000751.3(CHRND):c.187C>A (p.Leu63Ile)
|
rs2106206284
|
|
|
NM_000751.3(CHRND):c.218T>C (p.Leu73Pro)
|
rs1691518594
|
|
|
NM_000751.3(CHRND):c.236T>C (p.Ile79Thr)
|
|
|
|
NM_000751.3(CHRND):c.244-3C>T
|
|
|
|
NM_000751.3(CHRND):c.259C>T (p.Arg87Trp)
|
|
|
|
NM_000751.3(CHRND):c.262C>G (p.Leu88Val)
|
rs180971628
|
|
|
NM_000751.3(CHRND):c.281A>G (p.Glu94Gly)
|
rs1691557368
|
|
|
NM_000751.3(CHRND):c.292A>G (p.Ile98Val)
|
|
|
|
NM_000751.3(CHRND):c.298G>C (p.Val100Leu)
|
rs955184518
|
|
|
NM_000751.3(CHRND):c.29T>C (p.Leu10Pro)
|
|
|
|
NM_000751.3(CHRND):c.304C>A (p.Arg102Ser)
|
|
|
|
NM_000751.3(CHRND):c.304C>T (p.Arg102Cys)
|
rs775578238
|
|
|
NM_000751.3(CHRND):c.314C>G (p.Pro105Arg)
|
rs769160054
|
|
|
NM_000751.3(CHRND):c.340G>C (p.Val114Leu)
|
|
|
|
NM_000751.3(CHRND):c.34G>A (p.Ala12Thr)
|
rs1691456942
|
|
|
NM_000751.3(CHRND):c.361G>A (p.Gly121Ser)
|
rs752699014
|
|
|
NM_000751.3(CHRND):c.361G>C (p.Gly121Arg)
|
rs752699014
|
|
|
NM_000751.3(CHRND):c.364T>C (p.Ser122Pro)
|
|
|
|
NM_000751.3(CHRND):c.369C>G (p.Phe123Leu)
|
|
|
|
NM_000751.3(CHRND):c.385T>C (p.Cys129Arg)
|
|
|
|
NM_000751.3(CHRND):c.389A>G (p.Asn130Ser)
|
rs1553574327
|
|
|
NM_000751.3(CHRND):c.391G>A (p.Val131Met)
|
rs755141289
|
|
|
NM_000751.3(CHRND):c.391G>C (p.Val131Leu)
|
|
|
|
NM_000751.3(CHRND):c.409G>A (p.Gly137Ser)
|
|
|
|
NM_000751.3(CHRND):c.41T>G (p.Leu14Arg)
|
|
|
|
NM_000751.3(CHRND):c.440T>C (p.Phe147Ser)
|
|
|
|
NM_000751.3(CHRND):c.443G>A (p.Arg148His)
|
|
|
|
NM_000751.3(CHRND):c.449C>G (p.Ser150Cys)
|
rs1441233980
|
|
|
NM_000751.3(CHRND):c.461C>T (p.Ser154Phe)
|
rs2106208649
|
|
|
NM_000751.3(CHRND):c.481G>A (p.Asp161Asn)
|
|
|
|
NM_000751.3(CHRND):c.492C>G (p.Asn164Lys)
|
|
|
|
NM_000751.3(CHRND):c.494G>T (p.Cys165Phe)
|
rs1258523257
|
|
|
NM_000751.3(CHRND):c.52+6G>A
|
rs1301307735
|
|
|
NM_000751.3(CHRND):c.520T>C (p.Tyr174His)
|
|
|
|
NM_000751.3(CHRND):c.529A>G (p.Lys177Glu)
|
rs1691581371
|
|
|
NM_000751.3(CHRND):c.536T>C (p.Ile179Thr)
|
|
|
|
NM_000751.3(CHRND):c.570C>G (p.Asn190Lys)
|
rs768218659
|
|
|
NM_000751.3(CHRND):c.571C>G (p.Arg191Gly)
|
|
|
|
NM_000751.3(CHRND):c.572G>A (p.Arg191His)
|
|
|
|
NM_000751.3(CHRND):c.601G>A (p.Asp201Asn)
|
rs1691584182
|
|
|
NM_000751.3(CHRND):c.620-3C>G
|
rs1691619642
|
|
|
NM_000751.3(CHRND):c.620-3C>T
|
|
|
|
NM_000751.3(CHRND):c.625G>A (p.Gly209Arg)
|
rs766740341
|
|
|
NM_000751.3(CHRND):c.641T>C (p.Val214Ala)
|
rs1691620619
|
|
|
NM_000751.3(CHRND):c.650C>T (p.Pro217Leu)
|
rs149439815
|
|
|
NM_000751.3(CHRND):c.658G>A (p.Val220Ile)
|
|
|
|
NM_000751.3(CHRND):c.664G>A (p.Val222Met)
|
|
|
|
NM_000751.3(CHRND):c.68A>T (p.Asn23Ile)
|
rs1691474796
|
|
|
NM_000751.3(CHRND):c.691C>T (p.Pro231Ser)
|
|
|
|
NM_000751.3(CHRND):c.709A>T (p.Thr237Ser)
|
|
|
|
NM_000751.3(CHRND):c.710C>T (p.Thr237Ile)
|
|
|
|
NM_000751.3(CHRND):c.713_715del (p.Phe238del)
|
rs2106210087
|
|
|
NM_000751.3(CHRND):c.718C>T (p.Leu240Phe)
|
|
|
|
NM_000751.3(CHRND):c.725T>C (p.Ile242Thr)
|
|
|
|
NM_000751.3(CHRND):c.731G>A (p.Arg244His)
|
|
|
|
NM_000751.3(CHRND):c.736C>T (p.Pro246Ser)
|
|
|
|
NM_000751.3(CHRND):c.772G>A (p.Val258Met)
|
|
|
|
NM_000751.3(CHRND):c.784_786del (p.Phe262del)
|
|
|
|
NM_000751.3(CHRND):c.79C>T (p.Arg27Trp)
|
|
|
|
NM_000751.3(CHRND):c.820+5G>A
|
|
|
|
NM_000751.3(CHRND):c.822T>G (p.Ser274Arg)
|
|
|
|
NM_000751.3(CHRND):c.839T>C (p.Val280Ala)
|
|
|
|
NM_000751.3(CHRND):c.859G>T (p.Ala287Ser)
|
rs1691690683
|
|
|
NM_000751.3(CHRND):c.880C>T (p.Leu294Phe)
|
rs1574633904
|
|
|
NM_000751.3(CHRND):c.904A>C (p.Thr302Pro)
|
rs561839978
|
|
|
NM_000751.3(CHRND):c.912G>A (p.Met304Ile)
|
|
|
|
NM_000751.3(CHRND):c.929G>A (p.Gly310Asp)
|
|
|
|
NM_000751.3(CHRND):c.932+5G>T
|
|
|
|
NM_000751.3(CHRND):c.938T>C (p.Leu313Pro)
|
|
|
|
NM_000751.3(CHRND):c.956T>C (p.Leu319Pro)
|
rs1553575093
|
|
|
NM_000751.3(CHRND):c.962C>A (p.Thr321Asn)
|
rs776316455
|
|
|
NM_000751.3(CHRND):c.967G>T (p.Val323Phe)
|
|
|
|
NM_000751.3(CHRND):c.982G>T (p.Val328Phe)
|
|
|
|
NM_000751.3(CHRND):c.983T>A (p.Val328Asp)
|
rs2106211615
|
|
|
NM_000751.3(CHRND):c.991C>T (p.Leu331Phe)
|
rs1292476417
|
|
|
NM_001018113.3(FANCB):c.1003G>A (p.Gly335Arg)
|
|
|
|
NM_001018113.3(FANCB):c.1009G>A (p.Gly337Arg)
|
rs2147429068
|
|
|
NM_001018113.3(FANCB):c.1010G>A (p.Gly337Glu)
|
|
|
|
NM_001018113.3(FANCB):c.1021G>A (p.Val341Ile)
|
rs2092436307
|
|
|
NM_001018113.3(FANCB):c.1064C>T (p.Thr355Ile)
|
|
|
|
NM_001018113.3(FANCB):c.1104+4A>G
|
rs1555906676
|
|
|
NM_001018113.3(FANCB):c.1104G>A (p.Ser368=)
|
|
|
|
NM_001018113.3(FANCB):c.1107T>G (p.Ser369Arg)
|
|
|
|
NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly)
|
rs2147425036
|
|
|
NM_001018113.3(FANCB):c.1133A>C (p.Asp378Ala)
|
rs1569088991
|
|
|
NM_001018113.3(FANCB):c.1177C>T (p.Pro393Ser)
|
|
|
|
NM_001018113.3(FANCB):c.118A>G (p.Thr40Ala)
|
|
|
|
NM_001018113.3(FANCB):c.1192C>A (p.Leu398Met)
|
|
|
|
NM_001018113.3(FANCB):c.1198-3C>T
|
|
|
|
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp)
|
rs1364046604
|
|
|
NM_001018113.3(FANCB):c.1243A>G (p.Lys415Glu)
|
|
|
|
NM_001018113.3(FANCB):c.1256T>C (p.Ile419Thr)
|
|
|
|
NM_001018113.3(FANCB):c.1288G>A (p.Val430Ile)
|
rs1018343095
|
|
|
NM_001018113.3(FANCB):c.1300GAT[1] (p.Asp435del)
|
|
|
|
NM_001018113.3(FANCB):c.1304A>G (p.Asp435Gly)
|
|
|
|
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg)
|
rs776802337
|
|
|
NM_001018113.3(FANCB):c.131A>C (p.His44Pro)
|
rs2092464968
|
|
|
NM_001018113.3(FANCB):c.1325A>C (p.Glu442Ala)
|
rs2092408275
|
|
|
NM_001018113.3(FANCB):c.1342C>T (p.Pro448Ser)
|
rs867778700
|
|
|
NM_001018113.3(FANCB):c.1369G>A (p.Val457Ile)
|
|
|
|
NM_001018113.3(FANCB):c.1372C>T (p.His458Tyr)
|
rs1601985554
|
|
|
NM_001018113.3(FANCB):c.1393T>A (p.Ser465Thr)
|
|
|
|
NM_001018113.3(FANCB):c.1406A>T (p.Gln469Leu)
|
|
|
|
NM_001018113.3(FANCB):c.1407A>G (p.Gln469=)
|
rs2092396901
|
|
|
NM_001018113.3(FANCB):c.1458C>G (p.Ser486Arg)
|
rs2092396657
|
|
|
NM_001018113.3(FANCB):c.1480A>G (p.Thr494Ala)
|
rs1601985311
|
|
|
NM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys)
|
rs993307430
|
|
|
NM_001018113.3(FANCB):c.1487C>T (p.Ser496Phe)
|
rs993307430
|
|
|
NM_001018113.3(FANCB):c.1497G>T (p.Leu499=)
|
|
|
|
NM_001018113.3(FANCB):c.1501C>G (p.Leu501Val)
|
rs2147391420
|
|
|
NM_001018113.3(FANCB):c.1514C>G (p.Thr505Ser)
|
|
|
|
NM_001018113.3(FANCB):c.153C>G (p.Asp51Glu)
|
|
|
|
NM_001018113.3(FANCB):c.1541A>G (p.His514Arg)
|
rs1555904475
|
|
|
NM_001018113.3(FANCB):c.1579G>A (p.Val527Met)
|
|
|
|
NM_001018113.3(FANCB):c.1586A>C (p.Lys529Thr)
|
|
|
|
NM_001018113.3(FANCB):c.1605C>G (p.Phe535Leu)
|
rs1555904458
|
|
|
NM_001018113.3(FANCB):c.1613C>G (p.Pro538Arg)
|
rs2147391147
|
|
|
NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His)
|
rs2147391126
|
|
|
NM_001018113.3(FANCB):c.1654G>T (p.Val552Phe)
|
|
|
|
NM_001018113.3(FANCB):c.1655T>C (p.Val552Ala)
|
rs1569083698
|
|
|
NM_001018113.3(FANCB):c.1664C>T (p.Thr555Ile)
|
rs2092370867
|
|
|
NM_001018113.3(FANCB):c.1694T>C (p.Val565Ala)
|
|
|
|
NM_001018113.3(FANCB):c.16G>A (p.Ala6Thr)
|
rs5935815
|
|
|
NM_001018113.3(FANCB):c.1703A>C (p.His568Pro)
|
rs2092370560
|
|
|
NM_001018113.3(FANCB):c.1708T>C (p.Ser570Pro)
|
|
|
|
NM_001018113.3(FANCB):c.1727A>G (p.Gln576Arg)
|
|
|
|
NM_001018113.3(FANCB):c.1757C>T (p.Pro586Leu)
|
|
|
|
NM_001018113.3(FANCB):c.1759C>G (p.Leu587Val)
|
|
|
|
NM_001018113.3(FANCB):c.1765A>G (p.Thr589Ala)
|
|
|
|
NM_001018113.3(FANCB):c.1787C>A (p.Thr596Asn)
|
|
|
|
NM_001018113.3(FANCB):c.1800A>G (p.Gln600=)
|
rs2147390430
|
|
|
NM_001018113.3(FANCB):c.1819G>A (p.Gly607Ser)
|
|
|
|
NM_001018113.3(FANCB):c.1826G>A (p.Cys609Tyr)
|
|
|
|
NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro)
|
rs144764663
|
|
|
NM_001018113.3(FANCB):c.1840T>C (p.Tyr614His)
|
|
|
|
NM_001018113.3(FANCB):c.1858G>A (p.Val620Ile)
|
rs2092369531
|
|
|
NM_001018113.3(FANCB):c.1865T>C (p.Leu622Ser)
|
|
|
|
NM_001018113.3(FANCB):c.1930C>T (p.His644Tyr)
|
|
|
|
NM_001018113.3(FANCB):c.1940A>T (p.Asp647Val)
|
|
|
|
NM_001018113.3(FANCB):c.1991C>T (p.Ser664Leu)
|
rs1555904350
|
|
|
NM_001018113.3(FANCB):c.2000A>C (p.Tyr667Ser)
|
|
|
|
NM_001018113.3(FANCB):c.2020G>A (p.Val674Met)
|
|
|
|
NM_001018113.3(FANCB):c.2020G>C (p.Val674Leu)
|
rs2092368233
|
|
|
NM_001018113.3(FANCB):c.2021T>C (p.Val674Ala)
|
|
|
|
NM_001018113.3(FANCB):c.2035C>T (p.His679Tyr)
|
|
|
|
NM_001018113.3(FANCB):c.203A>G (p.Lys68Arg)
|
rs2147447567
|
|
|
NM_001018113.3(FANCB):c.2047G>A (p.Glu683Lys)
|
rs2147389460
|
|
|
NM_001018113.3(FANCB):c.2055C>G (p.Ile685Met)
|
|
|
|
NM_001018113.3(FANCB):c.2093G>C (p.Gly698Ala)
|
|
|
|
NM_001018113.3(FANCB):c.2107A>T (p.Thr703Ser)
|
rs2092367669
|
|
|
NM_001018113.3(FANCB):c.2125C>G (p.Gln709Glu)
|
rs1060501875
|
|
|
NM_001018113.3(FANCB):c.2139C>A (p.Phe713Leu)
|
|
|
|
NM_001018113.3(FANCB):c.2140G>A (p.Glu714Lys)
|
rs868748586
|
|
|
NM_001018113.3(FANCB):c.2154A>G (p.Ile718Met)
|
rs2092367373
|
|
|
NM_001018113.3(FANCB):c.2165+6G>A
|
|
|
|
NM_001018113.3(FANCB):c.2165G>T (p.Arg722Met)
|
|
|
|
NM_001018113.3(FANCB):c.2168A>G (p.Asn723Ser)
|
rs1300715683
|
|
|
NM_001018113.3(FANCB):c.2195A>G (p.His732Arg)
|
|
|
|
NM_001018113.3(FANCB):c.2201TCA[1] (p.Ile735del)
|
|
|
|
NM_001018113.3(FANCB):c.2206A>G (p.Arg736Gly)
|
|
|
|
NM_001018113.3(FANCB):c.2219T>C (p.Ile740Thr)
|
|
|
|
NM_001018113.3(FANCB):c.2223C>G (p.Asn741Lys)
|
|
|
|
NM_001018113.3(FANCB):c.2228T>A (p.Phe743Tyr)
|
|
|
|
NM_001018113.3(FANCB):c.2275A>G (p.Met759Val)
|
|
|
|
NM_001018113.3(FANCB):c.2291A>C (p.Glu764Ala)
|
|
|
|
NM_001018113.3(FANCB):c.229A>G (p.Met77Val)
|
|
|
|
NM_001018113.3(FANCB):c.2329A>G (p.Ile777Val)
|
rs776505971
|
|
|
NM_001018113.3(FANCB):c.2330T>C (p.Ile777Thr)
|
|
|
|
NM_001018113.3(FANCB):c.2331A>G (p.Ile777Met)
|
rs1326031344
|
|
|
NM_001018113.3(FANCB):c.2353A>G (p.Met785Val)
|
|
|
|
NM_001018113.3(FANCB):c.2371A>G (p.Ser791Gly)
|
rs2147386876
|
|
|
NM_001018113.3(FANCB):c.23C>T (p.Ser8Leu)
|
|
|
|
NM_001018113.3(FANCB):c.2428C>T (p.His810Tyr)
|
rs2147386628
|
|
|
NM_001018113.3(FANCB):c.2439A>C (p.Arg813Ser)
|
rs748392793
|
|
|
NM_001018113.3(FANCB):c.245T>C (p.Val82Ala)
|
rs2147447420
|
|
|
NM_001018113.3(FANCB):c.2467A>G (p.Met823Val)
|
|
|
|
NM_001018113.3(FANCB):c.2470T>G (p.Leu824Val)
|
rs1601976122
|
|
|
NM_001018113.3(FANCB):c.2477C>A (p.Thr826Lys)
|
rs201436396
|
|
|
NM_001018113.3(FANCB):c.2485A>G (p.Lys829Glu)
|
|
|
|
NM_001018113.3(FANCB):c.2507G>A (p.Arg836Lys)
|
|
|
|
NM_001018113.3(FANCB):c.2515A>G (p.Thr839Ala)
|
|
|
|
NM_001018113.3(FANCB):c.2553T>A (p.Phe851Leu)
|
rs759020755
|
|
|
NM_001018113.3(FANCB):c.271C>T (p.Leu91Phe)
|
|
|
|
NM_001018113.3(FANCB):c.292A>G (p.Lys98Glu)
|
rs2092464184
|
|
|
NM_001018113.3(FANCB):c.299A>G (p.Lys100Arg)
|
|
|
|
NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys)
|
rs2147447239
|
|
|
NM_001018113.3(FANCB):c.30C>G (p.Asn10Lys)
|
rs750078094
|
|
|
NM_001018113.3(FANCB):c.331A>G (p.Ile111Val)
|
|
|
|
NM_001018113.3(FANCB):c.350A>C (p.Lys117Thr)
|
rs1057515811
|
|
|
NM_001018113.3(FANCB):c.360G>A (p.Met120Ile)
|
|
|
|
NM_001018113.3(FANCB):c.388A>T (p.Met130Leu)
|
|
|
|
NM_001018113.3(FANCB):c.419C>T (p.Pro140Leu)
|
|
|
|
NM_001018113.3(FANCB):c.41G>A (p.Arg14Lys)
|
|
|
|
NM_001018113.3(FANCB):c.41G>C (p.Arg14Thr)
|
|
|
|
NM_001018113.3(FANCB):c.434G>C (p.Arg145Thr)
|
|
|
|
NM_001018113.3(FANCB):c.439G>A (p.Val147Ile)
|
|
|
|
NM_001018113.3(FANCB):c.445G>A (p.Ala149Thr)
|
|
|
|
NM_001018113.3(FANCB):c.454T>C (p.Phe152Leu)
|
rs2092463362
|
|
|
NM_001018113.3(FANCB):c.461C>A (p.Ser154Tyr)
|
|
|
|
NM_001018113.3(FANCB):c.463T>C (p.Ser155Pro)
|
|
|
|
NM_001018113.3(FANCB):c.469A>G (p.Thr157Ala)
|
|
|
|
NM_001018113.3(FANCB):c.477A>C (p.Lys159Asn)
|
rs1569092592
|
|
|
NM_001018113.3(FANCB):c.484A>C (p.Ser162Arg)
|
rs2147446679
|
|
|
NM_001018113.3(FANCB):c.490T>C (p.Ser164Pro)
|
|
|
|
NM_001018113.3(FANCB):c.494G>A (p.Gly165Asp)
|
|
|
|
NM_001018113.3(FANCB):c.49T>C (p.Cys17Arg)
|
|
|
|
NM_001018113.3(FANCB):c.506C>T (p.Ser169Phe)
|
|
|
|
NM_001018113.3(FANCB):c.508A>G (p.Ile170Val)
|
rs138251388
|
|
|
NM_001018113.3(FANCB):c.53A>T (p.Tyr18Phe)
|
|
|
|
NM_001018113.3(FANCB):c.554G>T (p.Gly185Val)
|
|
|
|
NM_001018113.3(FANCB):c.569G>A (p.Cys190Tyr)
|
rs2147446437
|
|
|
NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro)
|
rs2092462570
|
|
|
NM_001018113.3(FANCB):c.610G>T (p.Asp204Tyr)
|
|
|
|
NM_001018113.3(FANCB):c.611A>C (p.Asp204Ala)
|
|
|
|
NM_001018113.3(FANCB):c.628A>G (p.Thr210Ala)
|
rs2092462421
|
|
|
NM_001018113.3(FANCB):c.634T>C (p.Phe212Leu)
|
rs2147446219
|
|
|
NM_001018113.3(FANCB):c.647C>G (p.Ser216Cys)
|
|
|
|
NM_001018113.3(FANCB):c.64G>A (p.Val22Ile)
|
|
|
|
NM_001018113.3(FANCB):c.659A>G (p.Gln220Arg)
|
|
|
|
NM_001018113.3(FANCB):c.664G>A (p.Val222Ile)
|
rs2147446099
|
|
|
NM_001018113.3(FANCB):c.716A>T (p.Tyr239Phe)
|
rs1555907444
|
|
|
NM_001018113.3(FANCB):c.722A>G (p.His241Arg)
|
rs2147445804
|
|
|
NM_001018113.3(FANCB):c.773C>T (p.Ala258Val)
|
|
|
|
NM_001018113.3(FANCB):c.77A>G (p.Gln26Arg)
|
|
|
|
NM_001018113.3(FANCB):c.781C>G (p.Arg261Gly)
|
|
|
|
NM_001018113.3(FANCB):c.834G>C (p.Gln278His)
|
rs1569092087
|
|
|
NM_001018113.3(FANCB):c.951G>T (p.Gln317His)
|
|
|
|
NM_001018113.3(FANCB):c.972A>T (p.Lys324Asn)
|
rs1456143136
|
|
|
NM_001018113.3(FANCB):c.977G>C (p.Ser326Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.1009A>T (p.Ser337Cys)
|
|
|
|
NM_001018115.3(FANCD2):c.100A>G (p.Lys34Glu)
|
rs1394658178
|
|
|
NM_001018115.3(FANCD2):c.1016G>A (p.Gly339Asp)
|
rs1575749612
|
|
|
NM_001018115.3(FANCD2):c.1018C>G (p.Gln340Glu)
|
|
|
|
NM_001018115.3(FANCD2):c.1019A>G (p.Gln340Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.1033CTC[1] (p.Leu346del)
|
rs1158786668
|
|
|
NM_001018115.3(FANCD2):c.103T>C (p.Ser35Pro)
|
rs773847165
|
|
|
NM_001018115.3(FANCD2):c.107A>G (p.His36Arg)
|
rs2124970667
|
|
|
NM_001018115.3(FANCD2):c.1088C>G (p.Ala363Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.1091G>C (p.Trp364Ser)
|
rs2086921184
|
|
|
NM_001018115.3(FANCD2):c.1136T>C (p.Val379Ala)
|
rs1006403887
|
|
|
NM_001018115.3(FANCD2):c.1178C>G (p.Thr393Ser)
|
rs765339192
|
|
|
NM_001018115.3(FANCD2):c.118G>A (p.Glu40Lys)
|
rs2086637443
|
|
|
NM_001018115.3(FANCD2):c.1207C>G (p.Leu403Val)
|
rs753223864
|
|
|
NM_001018115.3(FANCD2):c.1223G>A (p.Arg408Gln)
|
rs370522983
|
|
|
NM_001018115.3(FANCD2):c.125A>G (p.Glu42Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.1278+2dup
|
rs1553608861
|
|
|
NM_001018115.3(FANCD2):c.1279-3A>T
|
rs1354341272
|
|
|
NM_001018115.3(FANCD2):c.1279G>A (p.Val427Ile)
|
rs529893298
|
|
|
NM_001018115.3(FANCD2):c.1349T>C (p.Ile450Thr)
|
rs549790164
|
|
|
NM_001018115.3(FANCD2):c.1349T>G (p.Ile450Arg)
|
rs549790164
|
|
|
NM_001018115.3(FANCD2):c.139A>G (p.Ile47Val)
|
|
|
|
NM_001018115.3(FANCD2):c.141C>G (p.Ile47Met)
|
|
|
|
NM_001018115.3(FANCD2):c.1447A>C (p.Ser483Arg)
|
rs2087129366
|
|
|
NM_001018115.3(FANCD2):c.146T>G (p.Val49Gly)
|
rs780343756
|
|
|
NM_001018115.3(FANCD2):c.1547G>T (p.Gly516Val)
|
|
|
|
NM_001018115.3(FANCD2):c.1549A>G (p.Ile517Val)
|
rs2087243822
|
|
|
NM_001018115.3(FANCD2):c.1550T>C (p.Ile517Thr)
|
rs1221998060
|
|
|
NM_001018115.3(FANCD2):c.1555G>C (p.Asp519His)
|
|
|
|
NM_001018115.3(FANCD2):c.1557T>G (p.Asp519Glu)
|
|
|
|
NM_001018115.3(FANCD2):c.1573T>G (p.Ser525Ala)
|
|
|
|
NM_001018115.3(FANCD2):c.1576C>T (p.Pro526Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.1601A>T (p.Tyr534Phe)
|
rs143701205
|
|
|
NM_001018115.3(FANCD2):c.1604T>C (p.Val535Ala)
|
rs2125011965
|
|
|
NM_001018115.3(FANCD2):c.1615C>A (p.Leu539Met)
|
|
|
|
NM_001018115.3(FANCD2):c.1618G>T (p.Ala540Ser)
|
rs765324038
|
|
|
NM_001018115.3(FANCD2):c.1650C>G (p.His550Gln)
|
|
|
|
NM_001018115.3(FANCD2):c.1657-5T>G
|
rs2125026589
|
|
|
NM_001018115.3(FANCD2):c.1663A>G (p.Met555Val)
|
|
|
|
NM_001018115.3(FANCD2):c.1717A>G (p.Ile573Val)
|
|
|
|
NM_001018115.3(FANCD2):c.1727T>C (p.Ile576Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.1732G>A (p.Ala578Thr)
|
rs2087530880
|
|
|
NM_001018115.3(FANCD2):c.1753A>G (p.Met585Val)
|
|
|
|
NM_001018115.3(FANCD2):c.1759G>A (p.Ala587Thr)
|
rs1553610798
|
|
|
NM_001018115.3(FANCD2):c.1766+4C>G
|
|
|
|
NM_001018115.3(FANCD2):c.1766+4C>T
|
|
|
|
NM_001018115.3(FANCD2):c.1796G>A (p.Arg599Lys)
|
rs1575787379
|
|
|
NM_001018115.3(FANCD2):c.1802A>T (p.Asn601Ile)
|
rs955122662
|
|
|
NM_001018115.3(FANCD2):c.1807A>C (p.Ser603Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.1837TTG[3] (p.Leu614_Gln615insLeu)
|
|
|
|
NM_001018115.3(FANCD2):c.187G>A (p.Glu63Lys)
|
|
|
|
NM_001018115.3(FANCD2):c.1910A>G (p.Asn637Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.1922A>G (p.His641Arg)
|
rs750353000
|
|
|
NM_001018115.3(FANCD2):c.1947+3A>G
|
|
|
|
NM_001018115.3(FANCD2):c.1947+6G>A
|
|
|
|
NM_001018115.3(FANCD2):c.1947G>A (p.Leu649=)
|
rs753041155
|
|
|
NM_001018115.3(FANCD2):c.1947G>C (p.Leu649=)
|
rs753041155
|
|
|
NM_001018115.3(FANCD2):c.1954G>A (p.Val652Ile)
|
rs1381447946
|
|
|
NM_001018115.3(FANCD2):c.1954G>C (p.Val652Leu)
|
rs1381447946
|
|
|
NM_001018115.3(FANCD2):c.1996G>A (p.Val666Met)
|
|
|
|
NM_001018115.3(FANCD2):c.2003C>T (p.Ser668Phe)
|
|
|
|
NM_001018115.3(FANCD2):c.2006G>C (p.Cys669Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.2014C>A (p.Pro672Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.2015C>T (p.Pro672Leu)
|
rs754258198
|
|
|
NM_001018115.3(FANCD2):c.2020G>A (p.Gly674Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.2021+5G>A
|
rs1243372102
|
|
|
NM_001018115.3(FANCD2):c.2022-5C>A
|
|
|
|
NM_001018115.3(FANCD2):c.2023G>C (p.Asp675His)
|
|
|
|
NM_001018115.3(FANCD2):c.2030C>T (p.Pro677Leu)
|
rs2087667280
|
|
|
NM_001018115.3(FANCD2):c.2048T>G (p.Leu683Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.205+4_205+6del
|
|
|
|
NM_001018115.3(FANCD2):c.2057T>C (p.Leu686Pro)
|
|
|
|
NM_001018115.3(FANCD2):c.2077G>T (p.Asp693Tyr)
|
rs2125035150
|
|
|
NM_001018115.3(FANCD2):c.2083A>C (p.Ile695Leu)
|
rs2125035169
|
|
|
NM_001018115.3(FANCD2):c.2087C>T (p.Ala696Val)
|
rs2087669561
|
|
|
NM_001018115.3(FANCD2):c.2094CCT[1] (p.Leu700del)
|
rs869312805
|
|
|
NM_001018115.3(FANCD2):c.2102C>T (p.Pro701Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.2135G>A (p.Gly712Glu)
|
|
|
|
NM_001018115.3(FANCD2):c.2153A>T (p.Gln718Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.2168+5G>C
|
rs1237529867
|
|
|
NM_001018115.3(FANCD2):c.219A>G (p.Ile73Met)
|
rs2124974577
|
|
|
NM_001018115.3(FANCD2):c.2215C>A (p.Leu739Ile)
|
|
|
|
NM_001018115.3(FANCD2):c.2218T>C (p.Cys740Arg)
|
rs368885711
|
|
|
NM_001018115.3(FANCD2):c.2219G>T (p.Cys740Phe)
|
|
|
|
NM_001018115.3(FANCD2):c.221C>T (p.Ala74Val)
|
|
|
|
NM_001018115.3(FANCD2):c.2221G>A (p.Val741Met)
|
|
|
|
NM_001018115.3(FANCD2):c.2224G>A (p.Glu742Lys)
|
|
|
|
NM_001018115.3(FANCD2):c.2246T>G (p.Leu749Trp)
|
rs1426222284
|
|
|
NM_001018115.3(FANCD2):c.2251G>A (p.Glu751Lys)
|
rs1559389326
|
|
|
NM_001018115.3(FANCD2):c.2252A>C (p.Glu751Ala)
|
|
|
|
NM_001018115.3(FANCD2):c.2255T>C (p.Ile752Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.2295G>A (p.Leu765=)
|
|
|
|
NM_001018115.3(FANCD2):c.2300C>T (p.Pro767Leu)
|
rs2087705679
|
|
|
NM_001018115.3(FANCD2):c.2320A>G (p.Met774Val)
|
|
|
|
NM_001018115.3(FANCD2):c.2321T>C (p.Met774Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.2336G>A (p.Arg779His)
|
rs377083479
|
|
|
NM_001018115.3(FANCD2):c.2344A>G (p.Met782Val)
|
rs779740652
|
|
|
NM_001018115.3(FANCD2):c.2358A>G (p.Ile786Met)
|
rs2087707764
|
|
|
NM_001018115.3(FANCD2):c.2381G>A (p.Arg794Gln)
|
|
|
|
NM_001018115.3(FANCD2):c.2385+6C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2386-5T>C
|
|
|
|
NM_001018115.3(FANCD2):c.2386A>C (p.Ile796Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.2387T>C (p.Ile796Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.2396C>A (p.Ala799Asp)
|
rs1193547837
|
|
|
NM_001018115.3(FANCD2):c.2422A>T (p.Met808Leu)
|
rs375415579
|
|
|
NM_001018115.3(FANCD2):c.2446T>G (p.Leu816Val)
|
rs2125039040
|
|
|
NM_001018115.3(FANCD2):c.2451G>C (p.Lys817Asn)
|
|
|
|
NM_001018115.3(FANCD2):c.2484G>C (p.Lys828Asn)
|
|
|
|
NM_001018115.3(FANCD2):c.2488T>G (p.Leu830Val)
|
|
|
|
NM_001018115.3(FANCD2):c.2495-3C>A
|
rs2125047914
|
|
|
NM_001018115.3(FANCD2):c.2507A>G (p.Tyr836Cys)
|
|
|
|
NM_001018115.3(FANCD2):c.2555C>T (p.Pro852Leu)
|
rs375827113
|
|
|
NM_001018115.3(FANCD2):c.2564_2569del (p.Val855_Thr856del)
|
rs1693335762
|
|
|
NM_001018115.3(FANCD2):c.2584A>C (p.Ile862Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.2593A>C (p.Lys865Gln)
|
|
|
|
NM_001018115.3(FANCD2):c.259C>G (p.Pro87Ala)
|
|
|
|
NM_001018115.3(FANCD2):c.2605+2dup
|
rs2125048104
|
|
|
NM_001018115.3(FANCD2):c.2609G>T (p.Arg870Met)
|
|
|
|
NM_001018115.3(FANCD2):c.2610G>C (p.Arg870Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn)
|
rs56041034
|
|
|
NM_001018115.3(FANCD2):c.2621C>G (p.Thr874Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.2631C>G (p.Ser877Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.2683C>T (p.Pro895Ser)
|
rs1693355244
|
|
|
NM_001018115.3(FANCD2):c.2687C>T (p.Thr896Met)
|
|
|
|
NM_001018115.3(FANCD2):c.2693C>G (p.Ser898Cys)
|
rs1693356065
|
|
|
NM_001018115.3(FANCD2):c.2695C>T (p.His899Tyr)
|
|
|
|
NM_001018115.3(FANCD2):c.2705A>G (p.Gln902Arg)
|
rs766865689
|
|
|
NM_001018115.3(FANCD2):c.271A>G (p.Lys91Glu)
|
|
|
|
NM_001018115.3(FANCD2):c.2725G>A (p.Gly909Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.2728A>G (p.Lys910Glu)
|
rs1693428697
|
|
|
NM_001018115.3(FANCD2):c.2732A>G (p.Glu911Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.2741CAT[1] (p.Ser915del)
|
|
|
|
NM_001018115.3(FANCD2):c.2753T>C (p.Leu918Pro)
|
|
|
|
NM_001018115.3(FANCD2):c.2777G>A (p.Arg926Gln)
|
|
|
|
NM_001018115.3(FANCD2):c.278T>C (p.Ile93Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.279A>G (p.Ile93Met)
|
rs1559370542
|
|
|
NM_001018115.3(FANCD2):c.2816G>C (p.Gly939Ala)
|
|
|
|
NM_001018115.3(FANCD2):c.2833A>G (p.Ile945Val)
|
rs1365150085
|
|
|
NM_001018115.3(FANCD2):c.285A>C (p.Glu95Asp)
|
|
|
|
NM_001018115.3(FANCD2):c.2860G>T (p.Ala954Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.2867_2869del (p.Glu956del)
|
rs1693630743
|
|
|
NM_001018115.3(FANCD2):c.2869G>C (p.Val957Leu)
|
rs762683227
|
|
|
NM_001018115.3(FANCD2):c.2882G>A (p.Gly961Glu)
|
|
|
|
NM_001018115.3(FANCD2):c.2908G>C (p.Glu970Gln)
|
|
|
|
NM_001018115.3(FANCD2):c.2932A>T (p.Ser978Cys)
|
|
|
|
NM_001018115.3(FANCD2):c.2933G>A (p.Ser978Asn)
|
|
|
|
NM_001018115.3(FANCD2):c.2937G>A (p.Met979Ile)
|
rs779245007
|
|
|
NM_001018115.3(FANCD2):c.2944C>T (p.Pro982Ser)
|
rs1051740558
|
|
|
NM_001018115.3(FANCD2):c.2947C>T (p.Pro983Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.2959A>G (p.Arg987Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.2971C>G (p.Leu991Val)
|
rs1575817874
|
|
|
NM_001018115.3(FANCD2):c.2971C>T (p.Leu991Phe)
|
|
|
|
NM_001018115.3(FANCD2):c.2977-14T>A
|
rs2125059347
|
|
|
NM_001018115.3(FANCD2):c.2978A>G (p.Asn993Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.2985A>T (p.Gly995=)
|
rs1575823725
|
|
|
NM_001018115.3(FANCD2):c.2988C>A (p.Ser996Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.2992A>T (p.Asn998Tyr)
|
|
|
|
NM_001018115.3(FANCD2):c.2995A>G (p.Ile999Val)
|
|
|
|
NM_001018115.3(FANCD2):c.3005C>T (p.Ser1002Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.3014A>G (p.Gln1005Arg)
|
rs964376104
|
|
|
NM_001018115.3(FANCD2):c.3020G>T (p.Arg1007Ile)
|
rs901861823
|
|
|
NM_001018115.3(FANCD2):c.3043T>C (p.Cys1015Arg)
|
rs2125059575
|
|
|
NM_001018115.3(FANCD2):c.3049T>G (p.Phe1017Val)
|
|
|
|
NM_001018115.3(FANCD2):c.3051T>A (p.Phe1017Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.3075C>A (p.Asn1025Lys)
|
|
|
|
NM_001018115.3(FANCD2):c.3139G>A (p.Gly1047Arg)
|
rs1693825081
|
|
|
NM_001018115.3(FANCD2):c.3151A>G (p.Lys1051Glu)
|
rs2125060028
|
|
|
NM_001018115.3(FANCD2):c.3155T>A (p.Val1052Asp)
|
|
|
|
NM_001018115.3(FANCD2):c.3169A>G (p.Ile1057Val)
|
|
|
|
NM_001018115.3(FANCD2):c.3181T>C (p.Cys1061Arg)
|
rs1693827482
|
|
|
NM_001018115.3(FANCD2):c.3197T>C (p.Leu1066Pro)
|
|
|
|
NM_001018115.3(FANCD2):c.3201G>T (p.Gln1067His)
|
|
|
|
NM_001018115.3(FANCD2):c.3208C>G (p.His1070Asp)
|
rs201184977
|
|
|
NM_001018115.3(FANCD2):c.3208C>T (p.His1070Tyr)
|
|
|
|
NM_001018115.3(FANCD2):c.3209A>C (p.His1070Pro)
|
|
|
|
NM_001018115.3(FANCD2):c.3209A>G (p.His1070Arg)
|
rs759516610
|
|
|
NM_001018115.3(FANCD2):c.3274C>T (p.His1092Tyr)
|
|
|
|
NM_001018115.3(FANCD2):c.3292C>A (p.Leu1098Met)
|
|
|
|
NM_001018115.3(FANCD2):c.3306A>C (p.Glu1102Asp)
|
|
|
|
NM_001018115.3(FANCD2):c.3319T>G (p.Leu1107Val)
|
|
|
|
NM_001018115.3(FANCD2):c.3323A>G (p.Glu1108Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.3325G>A (p.Glu1109Lys)
|
|
|
|
NM_001018115.3(FANCD2):c.3335+3G>A
|
|
|
|
NM_001018115.3(FANCD2):c.334A>C (p.Asn112His)
|
rs2086689020
|
|
|
NM_001018115.3(FANCD2):c.3371G>C (p.Ser1124Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.3426G>A (p.Leu1142=)
|
|
|
|
NM_001018115.3(FANCD2):c.3460A>G (p.Lys1154Glu)
|
|
|
|
NM_001018115.3(FANCD2):c.3462A>C (p.Lys1154Asn)
|
rs1559403678
|
|
|
NM_001018115.3(FANCD2):c.3466+6G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3467-3C>A
|
rs1694370265
|
|
|
NM_001018115.3(FANCD2):c.3467-8T>G
|
rs2125076487
|
|
|
NM_001018115.3(FANCD2):c.3494G>A (p.Arg1165Gln)
|
rs549507714
|
|
|
NM_001018115.3(FANCD2):c.3507T>G (p.Ser1169Arg)
|
rs1373304921
|
|
|
NM_001018115.3(FANCD2):c.350G>C (p.Cys117Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.3535A>G (p.Asn1179Asp)
|
rs949980921
|
|
|
NM_001018115.3(FANCD2):c.3551C>A (p.Ala1184Asp)
|
|
|
|
NM_001018115.3(FANCD2):c.3565T>A (p.Tyr1189Asn)
|
rs1273519317
|
|
|
NM_001018115.3(FANCD2):c.356G>C (p.Arg119Pro)
|
|
|
|
NM_001018115.3(FANCD2):c.3584G>C (p.Ser1195Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.3586A>G (p.Ile1196Val)
|
rs1339689117
|
|
|
NM_001018115.3(FANCD2):c.35A>T (p.Asp12Val)
|
rs2086517367
|
|
|
NM_001018115.3(FANCD2):c.3623T>A (p.Val1208Asp)
|
|
|
|
NM_001018115.3(FANCD2):c.3643C>T (p.Pro1215Ser)
|
rs941244378
|
|
|
NM_001018115.3(FANCD2):c.365A>C (p.Asp122Ala)
|
|
|
|
NM_001018115.3(FANCD2):c.3683+5G>C
|
|
|
|
NM_001018115.3(FANCD2):c.3694GTT[1] (p.Val1233del)
|
|
|
|
NM_001018115.3(FANCD2):c.3707G>T (p.Arg1236Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.3716T>A (p.Met1239Lys)
|
rs1694512844
|
|
|
NM_001018115.3(FANCD2):c.377+6G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3777+5G>A
|
rs368999017
|
|
|
NM_001018115.3(FANCD2):c.378-3C>T
|
rs74923817
|
|
|
NM_001018115.3(FANCD2):c.3793C>T (p.Leu1265Phe)
|
rs749410557
|
|
|
NM_001018115.3(FANCD2):c.383G>A (p.Gly128Asp)
|
rs760551106
|
|
|
NM_001018115.3(FANCD2):c.3848A>G (p.Lys1283Arg)
|
rs762148969
|
|
|
NM_001018115.3(FANCD2):c.3849+12_3849+13delinsAG
|
|
|
|
NM_001018115.3(FANCD2):c.3860G>C (p.Ser1287Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.3869T>C (p.Val1290Ala)
|
rs2125088623
|
|
|
NM_001018115.3(FANCD2):c.386C>T (p.Ala129Val)
|
|
|
|
NM_001018115.3(FANCD2):c.3888+5G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3925T>G (p.Cys1309Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.3934C>T (p.Leu1312Phe)
|
rs2125090749
|
|
|
NM_001018115.3(FANCD2):c.3946A>C (p.Ser1316Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.3958C>T (p.His1320Tyr)
|
rs2125090799
|
|
|
NM_001018115.3(FANCD2):c.3962G>A (p.Arg1321Gln)
|
rs147205530
|
|
|
NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro)
|
rs147205530
|
|
|
NM_001018115.3(FANCD2):c.3970G>A (p.Val1324Ile)
|
|
|
|
NM_001018115.3(FANCD2):c.4016A>C (p.His1339Pro)
|
rs1559408827
|
|
|
NM_001018115.3(FANCD2):c.4022T>G (p.Leu1341Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.4105T>G (p.Cys1369Gly)
|
rs995972011
|
|
|
NM_001018115.3(FANCD2):c.4106G>A (p.Cys1369Tyr)
|
|
|
|
NM_001018115.3(FANCD2):c.4112T>A (p.Val1371Asp)
|
rs2125095439
|
|
|
NM_001018115.3(FANCD2):c.4120A>G (p.Met1374Val)
|
|
|
|
NM_001018115.3(FANCD2):c.4126A>G (p.Thr1376Ala)
|
|
|
|
NM_001018115.3(FANCD2):c.4128_4131dup (p.Asn1378fs)
|
|
|
|
NM_001018115.3(FANCD2):c.4132A>C (p.Asn1378His)
|
|
|
|
NM_001018115.3(FANCD2):c.4138T>C (p.Cys1380Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.4171A>C (p.Asn1391His)
|
rs1694972063
|
|
|
NM_001018115.3(FANCD2):c.4174C>T (p.Arg1392Trp)
|
|
|
|
NM_001018115.3(FANCD2):c.4185+5G>T
|
rs2125095695
|
|
|
NM_001018115.3(FANCD2):c.4202C>T (p.Ser1401Phe)
|
|
|
|
NM_001018115.3(FANCD2):c.4210T>A (p.Ser1404Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.4232A>C (p.Glu1411Ala)
|
rs753252480
|
|
|
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del)
|
rs766605179
|
|
|
NM_001018115.3(FANCD2):c.4263dup (p.Lys1422fs)
|
|
|
|
NM_001018115.3(FANCD2):c.4264A>C (p.Lys1422Gln)
|
rs1695131902
|
|
|
NM_001018115.3(FANCD2):c.4281+16C>T
|
rs1695133266
|
|
|
NM_001018115.3(FANCD2):c.4281+1del
|
|
|
|
NM_001018115.3(FANCD2):c.4281+65G>A
|
|
|
|
NM_001018115.3(FANCD2):c.44G>C (p.Ser15Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.455C>A (p.Thr152Asn)
|
rs150444770
|
|
|
NM_001018115.3(FANCD2):c.461T>G (p.Phe154Cys)
|
|
|
|
NM_001018115.3(FANCD2):c.481T>C (p.Phe161Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.486T>G (p.Phe162Leu)
|
rs2086730814
|
|
|
NM_001018115.3(FANCD2):c.503A>G (p.Asp168Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.527T>C (p.Ile176Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.550G>T (p.Asp184Tyr)
|
rs2086806903
|
|
|
NM_001018115.3(FANCD2):c.551A>C (p.Asp184Ala)
|
|
|
|
NM_001018115.3(FANCD2):c.571G>A (p.Asp191Asn)
|
rs1257501671
|
|
|
NM_001018115.3(FANCD2):c.604A>G (p.Ile202Val)
|
rs2124985132
|
|
|
NM_001018115.3(FANCD2):c.62C>G (p.Ser21Cys)
|
|
|
|
NM_001018115.3(FANCD2):c.634A>G (p.Ile212Val)
|
rs2124985240
|
|
|
NM_001018115.3(FANCD2):c.667C>G (p.Gln223Glu)
|
rs1307143430
|
|
|
NM_001018115.3(FANCD2):c.673G>A (p.Ala225Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.695+5A>G
|
|
|
|
NM_001018115.3(FANCD2):c.695+6_695+11del
|
rs2124985470
|
|
|
NM_001018115.3(FANCD2):c.696T>C (p.Ser232=)
|
|
|
|
NM_001018115.3(FANCD2):c.733A>G (p.Ile245Val)
|
|
|
|
NM_001018115.3(FANCD2):c.745C>T (p.Leu249Phe)
|
|
|
|
NM_001018115.3(FANCD2):c.74A>G (p.Lys25Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.758G>A (p.Arg253Gln)
|
|
|
|
NM_001018115.3(FANCD2):c.769A>G (p.Asn257Asp)
|
|
|
|
NM_001018115.3(FANCD2):c.77A>C (p.Gln26Pro)
|
|
|
|
NM_001018115.3(FANCD2):c.783+6A>G
|
|
|
|
NM_001018115.3(FANCD2):c.784-3T>G
|
rs2086891718
|
|
|
NM_001018115.3(FANCD2):c.784G>A (p.Val262Ile)
|
|
|
|
NM_001018115.3(FANCD2):c.787C>T (p.Arg263Cys)
|
|
|
|
NM_001018115.3(FANCD2):c.788G>A (p.Arg263His)
|
|
|
|
NM_001018115.3(FANCD2):c.796_798del (p.Val266del)
|
|
|
|
NM_001018115.3(FANCD2):c.799A>T (p.Met267Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.803A>G (p.Asp268Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.807G>C (p.Lys269Asn)
|
|
|
|
NM_001018115.3(FANCD2):c.810GTC[1] (p.Ser272del)
|
rs748327074
|
|
|
NM_001018115.3(FANCD2):c.853A>G (p.Ile285Val)
|
rs2124991389
|
|
|
NM_001018115.3(FANCD2):c.875T>G (p.Met292Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.888+3A>G
|
|
|
|
NM_001018115.3(FANCD2):c.888G>A (p.Glu296=)
|
|
|
|
NM_001018115.3(FANCD2):c.905G>C (p.Arg302Pro)
|
rs755797932
|
|
|
NM_001018115.3(FANCD2):c.919C>G (p.Leu307Val)
|
rs1486958347
|
|
|
NM_001018115.3(FANCD2):c.923A>G (p.Gln308Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.929G>T (p.Cys310Phe)
|
rs1251711461
|
|
|
NM_001018115.3(FANCD2):c.944G>A (p.Arg315Gln)
|
|
|
|
NM_001018115.3(FANCD2):c.950A>G (p.Gln317Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.952G>A (p.Ala318Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.95C>T (p.Thr32Ile)
|
|
|
|
NM_001018115.3(FANCD2):c.962T>G (p.Val321Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.973A>C (p.Ser325Arg)
|
rs2124992404
|
|
|
NM_001018115.3(FANCD2):c.978A>C (p.Lys326Asn)
|
rs200193941
|
|
|
NM_001018115.3(FANCD2):c.989+3A>G
|
|
|
|
NM_001113378.2(FANCI):c.1003G>A (p.Val335Ile)
|
rs1222471181
|
|
|
NM_001113378.2(FANCI):c.100C>G (p.Gln34Glu)
|
rs1432524532
|
|
|
NM_001113378.2(FANCI):c.1013T>C (p.Phe338Ser)
|
|
|
|
NM_001113378.2(FANCI):c.1028TCC[1] (p.Leu344del)
|
rs770583031
|
|
|
NM_001113378.2(FANCI):c.103A>G (p.Asn35Asp)
|
|
|
|
NM_001113378.2(FANCI):c.1053G>T (p.Gln351His)
|
|
|
|
NM_001113378.2(FANCI):c.1064C>G (p.Pro355Arg)
|
|
|
|
NM_001113378.2(FANCI):c.106C>A (p.Gln36Lys)
|
|
|
|
NM_001113378.2(FANCI):c.106C>G (p.Gln36Glu)
|
|
|
|
NM_001113378.2(FANCI):c.1070G>T (p.Arg357Ile)
|
rs2151453139
|
|
|
NM_001113378.2(FANCI):c.1075T>A (p.Tyr359Asn)
|
rs1429851841
|
|
|
NM_001113378.2(FANCI):c.1082C>T (p.Ser361Leu)
|
rs2151453253
|
|
|
NM_001113378.2(FANCI):c.1118A>G (p.His373Arg)
|
|
|
|
NM_001113378.2(FANCI):c.1123T>C (p.Trp375Arg)
|
|
|
|
NM_001113378.2(FANCI):c.1132G>T (p.Val378Phe)
|
rs1216132878
|
|
|
NM_001113378.2(FANCI):c.1141G>A (p.Gly381Ser)
|
|
|
|
NM_001113378.2(FANCI):c.1147G>A (p.Val383Ile)
|
|
|
|
NM_001113378.2(FANCI):c.1162A>G (p.Ile388Val)
|
|
|
|
NM_001113378.2(FANCI):c.1163T>C (p.Ile388Thr)
|
rs1174812931
|
|
|
NM_001113378.2(FANCI):c.1186A>G (p.Lys396Glu)
|
rs2053427139
|
|
|
NM_001113378.2(FANCI):c.1198G>C (p.Asp400His)
|
|
|
|
NM_001113378.2(FANCI):c.1205A>G (p.Lys402Arg)
|
|
|
|
NM_001113378.2(FANCI):c.1217C>G (p.Thr406Ser)
|
|
|
|
NM_001113378.2(FANCI):c.1221C>G (p.Ser407Arg)
|
rs2151486786
|
|
|
NM_001113378.2(FANCI):c.1222C>A (p.Pro408Thr)
|
rs1281730489
|
|
|
NM_001113378.2(FANCI):c.1222C>T (p.Pro408Ser)
|
|
|
|
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val)
|
rs775228768
|
|
|
NM_001113378.2(FANCI):c.1294A>G (p.Ile432Val)
|
rs1387369541
|
|
|
NM_001113378.2(FANCI):c.12G>C (p.Lys4Asn)
|
rs1222824065
|
|
|
NM_001113378.2(FANCI):c.1314A>T (p.Gln438His)
|
|
|
|
NM_001113378.2(FANCI):c.1321T>A (p.Leu441Met)
|
|
|
|
NM_001113378.2(FANCI):c.1330G>A (p.Val444Ile)
|
rs1224560872
|
|
|
NM_001113378.2(FANCI):c.1333C>T (p.Leu445Phe)
|
rs2053498951
|
|
|
NM_001113378.2(FANCI):c.1345G>A (p.Val449Ile)
|
|
|
|
NM_001113378.2(FANCI):c.1349C>A (p.Thr450Asn)
|
rs1294189131
|
|
|
NM_001113378.2(FANCI):c.1349C>G (p.Thr450Ser)
|
|
|
|
NM_001113378.2(FANCI):c.1352G>C (p.Arg451Thr)
|
|
|
|
NM_001113378.2(FANCI):c.1354G>A (p.Ala452Thr)
|
|
|
|
NM_001113378.2(FANCI):c.1361C>G (p.Ser454Cys)
|
|
|
|
NM_001113378.2(FANCI):c.1363C>A (p.Pro455Thr)
|
rs2151511659
|
|
|
NM_001113378.2(FANCI):c.1366A>C (p.Ile456Leu)
|
rs757536456
|
|
|
NM_001113378.2(FANCI):c.1373A>G (p.His458Arg)
|
rs2053499876
|
|
|
NM_001113378.2(FANCI):c.1374T>A (p.His458Gln)
|
rs1183239990
|
|
|
NM_001113378.2(FANCI):c.1417G>A (p.Val473Ile)
|
rs2053602523
|
|
|
NM_001113378.2(FANCI):c.1436C>A (p.Ser479Tyr)
|
rs2053602935
|
|
|
NM_001113378.2(FANCI):c.1438A>G (p.Lys480Glu)
|
|
|
|
NM_001113378.2(FANCI):c.1465T>C (p.Ser489Pro)
|
rs2053603506
|
|
|
NM_001113378.2(FANCI):c.1472T>C (p.Leu491Pro)
|
rs2053603695
|
|
|
NM_001113378.2(FANCI):c.1481A>G (p.Gln494Arg)
|
rs1214081735
|
|
|
NM_001113378.2(FANCI):c.1489C>A (p.Gln497Lys)
|
rs1049036307
|
|
|
NM_001113378.2(FANCI):c.1491A>C (p.Gln497His)
|
rs145349375
|
|
|
NM_001113378.2(FANCI):c.1494G>T (p.Arg498Ser)
|
rs767830108
|
|
|
NM_001113378.2(FANCI):c.1512+5G>C
|
rs2053605169
|
|
|
NM_001113378.2(FANCI):c.1512G>A (p.Gln504=)
|
rs377762481
|
|
|
NM_001113378.2(FANCI):c.1514C>A (p.Pro505His)
|
rs773105092
|
|
|
NM_001113378.2(FANCI):c.1517T>G (p.Leu506Arg)
|
rs2151558457
|
|
|
NM_001113378.2(FANCI):c.1525G>A (p.Val509Ile)
|
rs1011876937
|
|
|
NM_001113378.2(FANCI):c.1531A>C (p.Met511Leu)
|
rs1596285157
|
|
|
NM_001113378.2(FANCI):c.153C>G (p.Phe51Leu)
|
|
|
|
NM_001113378.2(FANCI):c.1541G>A (p.Arg514Lys)
|
|
|
|
NM_001113378.2(FANCI):c.1544A>G (p.Asp515Gly)
|
rs2053624733
|
|
|
NM_001113378.2(FANCI):c.1550T>G (p.Leu517Trp)
|
|
|
|
NM_001113378.2(FANCI):c.1556T>C (p.Leu519Pro)
|
rs998713167
|
|
|
NM_001113378.2(FANCI):c.1564C>A (p.Arg522=)
|
rs371568506
|
|
|
NM_001113378.2(FANCI):c.158-5A>G
|
|
|
|
NM_001113378.2(FANCI):c.1583+3A>G
|
rs2151559047
|
|
|
NM_001113378.2(FANCI):c.1583A>C (p.Asn528Thr)
|
rs2151559017
|
|
|
NM_001113378.2(FANCI):c.1626G>C (p.Leu542=)
|
|
|
|
NM_001113378.2(FANCI):c.1637A>G (p.Asn546Ser)
|
|
|
|
NM_001113378.2(FANCI):c.1639delinsGTTC (p.Phe547delinsValLeu)
|
rs2053681482
|
|
|
NM_001113378.2(FANCI):c.163C>T (p.Pro55Ser)
|
|
|
|
NM_001113378.2(FANCI):c.1643A>C (p.Lys548Thr)
|
rs2053681603
|
|
|
NM_001113378.2(FANCI):c.1649T>C (p.Leu550Ser)
|
rs2151580534
|
|
|
NM_001113378.2(FANCI):c.1654A>C (p.Ser552Arg)
|
rs1060501899
|
|
|
NM_001113378.2(FANCI):c.1655G>A (p.Ser552Asn)
|
rs1470686039
|
|
|
NM_001113378.2(FANCI):c.1656C>A (p.Ser552Arg)
|
|
|
|
NM_001113378.2(FANCI):c.1656C>G (p.Ser552Arg)
|
rs1060501901
|
|
|
NM_001113378.2(FANCI):c.1664C>A (p.Ser555Tyr)
|
|
|
|
NM_001113378.2(FANCI):c.1669C>A (p.Gln557Lys)
|
|
|
|
NM_001113378.2(FANCI):c.1675A>C (p.Ser559Arg)
|
|
|
|
NM_001113378.2(FANCI):c.1675A>G (p.Ser559Gly)
|
|
|
|
NM_001113378.2(FANCI):c.1676G>T (p.Ser559Ile)
|
rs1555446426
|
|
|
NM_001113378.2(FANCI):c.1698+4A>G
|
rs1233338671
|
|
|
NM_001113378.2(FANCI):c.1703A>C (p.His568Pro)
|
rs555480773
|
|
|
NM_001113378.2(FANCI):c.1708G>A (p.Asp570Asn)
|
|
|
|
NM_001113378.2(FANCI):c.1708G>C (p.Asp570His)
|
rs2053765523
|
|
|
NM_001113378.2(FANCI):c.1754T>G (p.Leu585Arg)
|
|
|
|
NM_001113378.2(FANCI):c.1761C>G (p.Ile587Met)
|
|
|
|
NM_001113378.2(FANCI):c.176A>T (p.Glu59Val)
|
|
|
|
NM_001113378.2(FANCI):c.1795G>A (p.Ala599Thr)
|
|
|
|
NM_001113378.2(FANCI):c.1795G>T (p.Ala599Ser)
|
|
|
|
NM_001113378.2(FANCI):c.1822-3T>C
|
rs978852872
|
|
|
NM_001113378.2(FANCI):c.1828T>A (p.Tyr610Asn)
|
|
|
|
NM_001113378.2(FANCI):c.182G>A (p.Gly61Glu)
|
rs780853984
|
|
|
NM_001113378.2(FANCI):c.1837C>T (p.Leu613Phe)
|
rs2151689487
|
|
|
NM_001113378.2(FANCI):c.1841G>A (p.Arg614Gln)
|
|
|
|
NM_001113378.2(FANCI):c.1854G>T (p.Gln618His)
|
|
|
|
NM_001113378.2(FANCI):c.1863T>A (p.Asn621Lys)
|
|
|
|
NM_001113378.2(FANCI):c.1867G>A (p.Val623Ile)
|
rs1174201813
|
|
|
NM_001113378.2(FANCI):c.1870A>G (p.Met624Val)
|
rs772744597
|
|
|
NM_001113378.2(FANCI):c.1871T>C (p.Met624Thr)
|
rs758191165
|
|
|
NM_001113378.2(FANCI):c.1885T>C (p.Ser629Pro)
|
rs753059359
|
|
|
NM_001113378.2(FANCI):c.1888C>G (p.Gln630Glu)
|
|
|
|
NM_001113378.2(FANCI):c.1900T>C (p.Phe634Leu)
|
|
|
|
NM_001113378.2(FANCI):c.1906G>C (p.Glu636Gln)
|
rs751777082
|
|
|
NM_001113378.2(FANCI):c.1908_1909delinsAG (p.Pro637Ala)
|
|
|
|
NM_001113378.2(FANCI):c.1909C>T (p.Pro637Ser)
|
|
|
|
NM_001113378.2(FANCI):c.191_199del (p.Arg64_Arg66del)
|
rs2151252928
|
|
|
NM_001113378.2(FANCI):c.1925T>C (p.Leu642Pro)
|
rs2151709613
|
|
|
NM_001113378.2(FANCI):c.1931C>T (p.Pro644Leu)
|
|
|
|
NM_001113378.2(FANCI):c.1951A>G (p.Ile651Val)
|
rs746651145
|
|
|
NM_001113378.2(FANCI):c.1955T>G (p.Leu652Arg)
|
rs2151709881
|
|
|
NM_001113378.2(FANCI):c.1962A>C (p.Gln654His)
|
|
|
|
NM_001113378.2(FANCI):c.1962A>G (p.Gln654=)
|
rs2151709946
|
|
|
NM_001113378.2(FANCI):c.1972A>C (p.Ile658Leu)
|
rs745308624
|
|
|
NM_001113378.2(FANCI):c.1987C>T (p.Pro663Ser)
|
|
|
|
NM_001113378.2(FANCI):c.1992+3G>C
|
|
|
|
NM_001113378.2(FANCI):c.199A>G (p.Lys67Glu)
|
rs748834576
|
|
|
NM_001113378.2(FANCI):c.2018A>G (p.His673Arg)
|
rs2151724076
|
|
|
NM_001113378.2(FANCI):c.202A>G (p.Ile68Val)
|
|
|
|
NM_001113378.2(FANCI):c.2048T>C (p.Ile683Thr)
|
|
|
|
NM_001113378.2(FANCI):c.205T>C (p.Tyr69His)
|
|
|
|
NM_001113378.2(FANCI):c.2063G>T (p.Gly688Val)
|
rs778157971
|
|
|
NM_001113378.2(FANCI):c.2066AGGAGGAAGAGG[1] (p.Glu693_Glu696del)
|
rs878854176
|
|
|
NM_001113378.2(FANCI):c.2074G>A (p.Glu692Lys)
|
|
|
|
NM_001113378.2(FANCI):c.2078A>G (p.Glu693Gly)
|
|
|
|
NM_001113378.2(FANCI):c.2083G>A (p.Glu695Lys)
|
|
|
|
NM_001113378.2(FANCI):c.2084A>C (p.Glu695Ala)
|
|
|
|
NM_001113378.2(FANCI):c.208A>G (p.Thr70Ala)
|
|
|
|
NM_001113378.2(FANCI):c.2095T>A (p.Tyr699Asn)
|
rs769972292
|
|
|
NM_001113378.2(FANCI):c.2096A>G (p.Tyr699Cys)
|
rs774148630
|
|
|
NM_001113378.2(FANCI):c.2111A>T (p.Asp704Val)
|
|
|
|
NM_001113378.2(FANCI):c.211TGT[1] (p.Cys72del)
|
|
|
|
NM_001113378.2(FANCI):c.2188T>C (p.Ser730Pro)
|
rs1596304843
|
|
|
NM_001113378.2(FANCI):c.2197A>G (p.Thr733Ala)
|
rs2054122961
|
|
|
NM_001113378.2(FANCI):c.2198C>G (p.Thr733Ser)
|
|
|
|
NM_001113378.2(FANCI):c.221A>T (p.Gln74Leu)
|
rs2052680747
|
|
|
NM_001113378.2(FANCI):c.2222T>C (p.Ile741Thr)
|
|
|
|
NM_001113378.2(FANCI):c.2231T>C (p.Phe744Ser)
|
rs1196776537
|
|
|
NM_001113378.2(FANCI):c.2233C>T (p.Leu745Phe)
|
|
|
|
NM_001113378.2(FANCI):c.2236G>A (p.Val746Met)
|
|
|
|
NM_001113378.2(FANCI):c.2255T>G (p.Val752Gly)
|
|
|
|
NM_001113378.2(FANCI):c.2266T>G (p.Tyr756Asp)
|
rs752028405
|
|
|
NM_001113378.2(FANCI):c.226G>A (p.Val76Met)
|
rs2151253448
|
|
|
NM_001113378.2(FANCI):c.2270A>G (p.Asn757Ser)
|
rs111883566
|
|
|
NM_001113378.2(FANCI):c.2273T>G (p.Phe758Cys)
|
rs750735931
|
|
|
NM_001113378.2(FANCI):c.2278A>G (p.Ile760Val)
|
rs780410177
|
|
|
NM_001113378.2(FANCI):c.2280A>G (p.Ile760Met)
|
|
|
|
NM_001113378.2(FANCI):c.2288T>A (p.Phe763Tyr)
|
|
|
|
NM_001113378.2(FANCI):c.2290A>C (p.Ser764Arg)
|
|
|
|
NM_001113378.2(FANCI):c.2291+5G>A
|
rs1315760080
|
|
|
NM_001113378.2(FANCI):c.2292-3C>T
|
|
|
|
NM_001113378.2(FANCI):c.2299A>G (p.Arg767Gly)
|
|
|
|
NM_001113378.2(FANCI):c.22C>G (p.Leu8Val)
|
rs772954096
|
|
|
NM_001113378.2(FANCI):c.2300G>T (p.Arg767Met)
|
rs1555447886
|
|
|
NM_001113378.2(FANCI):c.2302T>G (p.Phe768Val)
|
|
|
|
NM_001113378.2(FANCI):c.2303T>A (p.Phe768Tyr)
|
|
|
|
NM_001113378.2(FANCI):c.2306A>C (p.Glu769Ala)
|
|
|
|
NM_001113378.2(FANCI):c.2307G>C (p.Glu769Asp)
|
|
|
|
NM_001113378.2(FANCI):c.2318G>A (p.Ser773Asn)
|
rs1192891263
|
|
|
NM_001113378.2(FANCI):c.2327T>G (p.Met776Arg)
|
|
|
|
NM_001113378.2(FANCI):c.2330G>A (p.Cys777Tyr)
|
|
|
|
NM_001113378.2(FANCI):c.2342T>C (p.Leu781Pro)
|
|
|
|
NM_001113378.2(FANCI):c.2348A>G (p.Asp783Gly)
|
rs1363536852
|
|
|
NM_001113378.2(FANCI):c.2366C>T (p.Ala789Val)
|
rs925359228
|
|
|
NM_001113378.2(FANCI):c.236G>A (p.Gly79Glu)
|
rs1415605220
|
|
|
NM_001113378.2(FANCI):c.2394C>A (p.Asn798Lys)
|
|
|
|
NM_001113378.2(FANCI):c.2398A>G (p.Thr800Ala)
|
rs1163712614
|
|
|
NM_001113378.2(FANCI):c.2428G>T (p.Val810Leu)
|
rs779973664
|
|
|
NM_001113378.2(FANCI):c.2440C>G (p.Leu814Val)
|
rs2151741592
|
|
|
NM_001113378.2(FANCI):c.2455A>G (p.Arg819Gly)
|
rs370996106
|
|
|
NM_001113378.2(FANCI):c.2458G>A (p.Asp820Asn)
|
rs2151754385
|
|
|
NM_001113378.2(FANCI):c.2458G>T (p.Asp820Tyr)
|
rs2151754385
|
|
|
NM_001113378.2(FANCI):c.2459A>G (p.Asp820Gly)
|
|
|
|
NM_001113378.2(FANCI):c.2473C>T (p.His825Tyr)
|
|
|
|
NM_001113378.2(FANCI):c.247A>G (p.Lys83Glu)
|
rs2151253685
|
|
|
NM_001113378.2(FANCI):c.2484C>G (p.Ser828Arg)
|
|
|
|
NM_001113378.2(FANCI):c.2497A>G (p.Arg833Gly)
|
|
|
|
NM_001113378.2(FANCI):c.2511G>C (p.Glu837Asp)
|
rs2151754914
|
|
|
NM_001113378.2(FANCI):c.2518C>T (p.Arg840Cys)
|
|
|
|
NM_001113378.2(FANCI):c.2519G>T (p.Arg840Leu)
|
rs777483611
|
|
|
NM_001113378.2(FANCI):c.2533G>A (p.Val845Ile)
|
rs1596307741
|
|
|
NM_001113378.2(FANCI):c.2564A>G (p.Glu855Gly)
|
|
|
|
NM_001113378.2(FANCI):c.2566A>C (p.Thr856Pro)
|
rs541976745
|
|
|
NM_001113378.2(FANCI):c.257C>G (p.Ala86Gly)
|
|
|
|
NM_001113378.2(FANCI):c.2588A>G (p.Asp863Gly)
|
rs2054201315
|
|
|
NM_001113378.2(FANCI):c.2591G>T (p.Gly864Val)
|
|
|
|
NM_001113378.2(FANCI):c.2609T>A (p.Ile870Asn)
|
|
|
|
NM_001113378.2(FANCI):c.2611T>C (p.Phe871Leu)
|
|
|
|
NM_001113378.2(FANCI):c.2652A>C (p.Arg884Ser)
|
rs749604758
|
|
|
NM_001113378.2(FANCI):c.2660C>T (p.Ser887Leu)
|
|
|
|
NM_001113378.2(FANCI):c.2665C>T (p.Pro889Ser)
|
|
|
|
NM_001113378.2(FANCI):c.2671T>G (p.Ser891Ala)
|
rs2054461834
|
|
|
NM_001113378.2(FANCI):c.2674G>T (p.Val892Leu)
|
rs760751687
|
|
|
NM_001113378.2(FANCI):c.2677G>A (p.Glu893Lys)
|
|
|
|
NM_001113378.2(FANCI):c.2678A>C (p.Glu893Ala)
|
|
|
|
NM_001113378.2(FANCI):c.2683T>G (p.Ser895Ala)
|
rs1567170319
|
|
|
NM_001113378.2(FANCI):c.2693A>C (p.Lys898Thr)
|
rs530089482
|
|
|
NM_001113378.2(FANCI):c.2697G>T (p.Glu899Asp)
|
|
|
|
NM_001113378.2(FANCI):c.2708G>T (p.Ser903Ile)
|
rs1421890045
|
|
|
NM_001113378.2(FANCI):c.2711T>A (p.Ile904Asn)
|
|
|
|
NM_001113378.2(FANCI):c.2728G>C (p.Glu910Gln)
|
rs1261021714
|
|
|
NM_001113378.2(FANCI):c.2738A>C (p.Gln913Pro)
|
|
|
|
NM_001113378.2(FANCI):c.2745_2747del (p.Phe916del)
|
|
|
|
NM_001113378.2(FANCI):c.2746T>C (p.Phe916Leu)
|
|
|
|
NM_001113378.2(FANCI):c.2747T>G (p.Phe916Cys)
|
|
|
|
NM_001113378.2(FANCI):c.2750G>A (p.Ser917Asn)
|
rs2151839260
|
|
|
NM_001113378.2(FANCI):c.2752G>A (p.Ala918Thr)
|
|
|
|
NM_001113378.2(FANCI):c.2766C>G (p.Phe922Leu)
|
rs2054464932
|
|
|
NM_001113378.2(FANCI):c.2776A>C (p.Lys926Gln)
|
rs1596316742
|
|
|
NM_001113378.2(FANCI):c.2777A>C (p.Lys926Thr)
|
rs1386770100
|
|
|
NM_001113378.2(FANCI):c.2782C>G (p.Gln928Glu)
|
|
|
|
NM_001113378.2(FANCI):c.2789T>G (p.Phe930Cys)
|
|
|
|
NM_001113378.2(FANCI):c.2790T>A (p.Phe930Leu)
|
|
|
|
NM_001113378.2(FANCI):c.2797G>A (p.Ala933Thr)
|
|
|
|
NM_001113378.2(FANCI):c.2803+6C>T
|
|
|
|
NM_001113378.2(FANCI):c.280A>G (p.Met94Val)
|
|
|
|
NM_001113378.2(FANCI):c.2810C>G (p.Thr937Arg)
|
rs2151844601
|
|
|
NM_001113378.2(FANCI):c.2822_2824del (p.Gly941del)
|
|
|
|
NM_001113378.2(FANCI):c.2840C>T (p.Ala947Val)
|
|
|
|
NM_001113378.2(FANCI):c.2842G>C (p.Asp948His)
|
|
|
|
NM_001113378.2(FANCI):c.2843A>G (p.Asp948Gly)
|
rs2054481871
|
|
|
NM_001113378.2(FANCI):c.2849G>C (p.Ser950Thr)
|
rs760327010
|
|
|
NM_001113378.2(FANCI):c.2849G>T (p.Ser950Ile)
|
rs760327010
|
|
|
NM_001113378.2(FANCI):c.2854A>G (p.Thr952Ala)
|
|
|
|
NM_001113378.2(FANCI):c.2855_2869delinsTTG (p.Thr952_Phe957delinsIleVal)
|
rs1555448946
|
|
|
NM_001113378.2(FANCI):c.2866G>A (p.Ala956Thr)
|
|
|
|
NM_001113378.2(FANCI):c.2872C>G (p.Gln958Glu)
|
|
|
|
NM_001113378.2(FANCI):c.2874G>C (p.Gln958His)
|
|
|
|
NM_001113378.2(FANCI):c.289-18T>C
|
|
|
|
NM_001113378.2(FANCI):c.2891G>A (p.Arg964Lys)
|
rs2151859007
|
|
|
NM_001113378.2(FANCI):c.2909T>G (p.Leu970Arg)
|
rs376798440
|
|
|
NM_001113378.2(FANCI):c.2936G>A (p.Ser979Asn)
|
rs769453869
|
|
|
NM_001113378.2(FANCI):c.2936G>C (p.Ser979Thr)
|
rs769453869
|
|
|
NM_001113378.2(FANCI):c.2953C>G (p.Leu985Val)
|
|
|
|
NM_001113378.2(FANCI):c.2960C>G (p.Thr987Arg)
|
|
|
|
NM_001113378.2(FANCI):c.2969C>T (p.Thr990Ile)
|
rs762231803
|
|
|
NM_001113378.2(FANCI):c.2972G>C (p.Ser991Thr)
|
|
|
|
NM_001113378.2(FANCI):c.2990A>T (p.Glu997Val)
|
rs1567171375
|
|
|
NM_001113378.2(FANCI):c.2998T>A (p.Ser1000Thr)
|
rs2151859745
|
|
|
NM_001113378.2(FANCI):c.2T>G (p.Met1Arg)
|
|
|
|
NM_001113378.2(FANCI):c.3006+4C>G
|
|
|
|
NM_001113378.2(FANCI):c.3007-3T>A
|
|
|
|
NM_001113378.2(FANCI):c.301C>T (p.Pro101Ser)
|
rs770185523
|
|
|
NM_001113378.2(FANCI):c.3032C>T (p.Ser1011Leu)
|
|
|
|
NM_001113378.2(FANCI):c.3036G>T (p.Lys1012Asn)
|
|
|
|
NM_001113378.2(FANCI):c.3054C>G (p.Ser1018Arg)
|
|
|
|
NM_001113378.2(FANCI):c.3056G>C (p.Arg1019Pro)
|
rs772401747
|
|
|
NM_001113378.2(FANCI):c.3058+4A>G
|
rs2054616468
|
|
|
NM_001113378.2(FANCI):c.3058G>A (p.Glu1020Lys)
|
|
|
|
NM_001113378.2(FANCI):c.3061G>A (p.Asp1021Asn)
|
rs2054667740
|
|
|
NM_001113378.2(FANCI):c.3061G>T (p.Asp1021Tyr)
|
rs2054667740
|
|
|
NM_001113378.2(FANCI):c.3062A>G (p.Asp1021Gly)
|
rs1290229004
|
|
|
NM_001113378.2(FANCI):c.3064G>T (p.Ala1022Ser)
|
rs1359308008
|
|
|
NM_001113378.2(FANCI):c.3113C>T (p.Ser1038Leu)
|
rs2151913209
|
|
|
NM_001113378.2(FANCI):c.3125C>G (p.Pro1042Arg)
|
|
|
|
NM_001113378.2(FANCI):c.3147G>T (p.Leu1049Phe)
|
|
|
|
NM_001113378.2(FANCI):c.3157A>G (p.Ile1053Val)
|
rs1486397190
|
|
|
NM_001113378.2(FANCI):c.3161A>G (p.His1054Arg)
|
|
|
|
NM_001113378.2(FANCI):c.3163G>A (p.Gly1055Arg)
|
|
|
|
NM_001113378.2(FANCI):c.3166C>A (p.His1056Asn)
|
rs2054670897
|
|
|
NM_001113378.2(FANCI):c.3168T>A (p.His1056Gln)
|
|
|
|
NM_001113378.2(FANCI):c.3172G>A (p.Gly1058Arg)
|
rs2054671049
|
|
|
NM_001113378.2(FANCI):c.3179T>C (p.Ile1060Thr)
|
rs201376236
|
|
|
NM_001113378.2(FANCI):c.3186+6A>G
|
rs910020158
|
|
|
NM_001113378.2(FANCI):c.3187-3C>G
|
rs2054676661
|
|
|
NM_001113378.2(FANCI):c.3193G>A (p.Glu1065Lys)
|
|
|
|
NM_001113378.2(FANCI):c.320A>G (p.Glu107Gly)
|
rs2052715611
|
|
|
NM_001113378.2(FANCI):c.3220A>T (p.Ile1074Leu)
|
rs1450182027
|
|
|
NM_001113378.2(FANCI):c.3220_3222del (p.Ile1074del)
|
|
|
|
NM_001113378.2(FANCI):c.3233G>C (p.Arg1078Thr)
|
|
|
|
NM_001113378.2(FANCI):c.3242C>T (p.Ala1081Val)
|
|
|
|
NM_001113378.2(FANCI):c.3254G>T (p.Cys1085Phe)
|
rs533779983
|
|
|
NM_001113378.2(FANCI):c.3256-8_3256-4del
|
|
|
|
NM_001113378.2(FANCI):c.325_326delinsAT (p.Ala109Ile)
|
rs2151267729
|
|
|
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys)
|
rs758575911
|
|
|
NM_001113378.2(FANCI):c.3283G>A (p.Val1095Ile)
|
rs1596325131
|
|
|
NM_001113378.2(FANCI):c.32A>G (p.Glu11Gly)
|
|
|
|
NM_001113378.2(FANCI):c.3310A>C (p.Thr1104Pro)
|
rs768735814
|
|
|
NM_001113378.2(FANCI):c.3311C>G (p.Thr1104Ser)
|
|
|
|
NM_001113378.2(FANCI):c.3316C>A (p.Leu1106Ile)
|
|
|
|
NM_001113378.2(FANCI):c.331G>C (p.Glu111Gln)
|
rs2151267825
|
|
|
NM_001113378.2(FANCI):c.3344T>C (p.Leu1115Ser)
|
rs2151919026
|
|
|
NM_001113378.2(FANCI):c.3354G>C (p.Glu1118Asp)
|
|
|
|
NM_001113378.2(FANCI):c.3354G>T (p.Glu1118Asp)
|
rs760199293
|
|
|
NM_001113378.2(FANCI):c.3355G>A (p.Ala1119Thr)
|
|
|
|
NM_001113378.2(FANCI):c.3358T>A (p.Ser1120Thr)
|
|
|
|
NM_001113378.2(FANCI):c.3370A>C (p.Thr1124Pro)
|
|
|
|
NM_001113378.2(FANCI):c.3370A>G (p.Thr1124Ala)
|
rs2151923443
|
|
|
NM_001113378.2(FANCI):c.3371C>G (p.Thr1124Ser)
|
|
|
|
NM_001113378.2(FANCI):c.337A>C (p.Ile113Leu)
|
rs766158703
|
|
|
NM_001113378.2(FANCI):c.3382C>G (p.Gln1128Glu)
|
rs2054705069
|
|
|
NM_001113378.2(FANCI):c.3389T>A (p.Val1130Asp)
|
rs764412863
|
|
|
NM_001113378.2(FANCI):c.3391G>C (p.Glu1131Gln)
|
|
|
|
NM_001113378.2(FANCI):c.3392A>G (p.Glu1131Gly)
|
|
|
|
NM_001113378.2(FANCI):c.3403A>T (p.Ile1135Phe)
|
|
|
|
NM_001113378.2(FANCI):c.3411A>T (p.Gln1137His)
|
|
|
|
NM_001113378.2(FANCI):c.3428C>G (p.Thr1143Arg)
|
rs772071601
|
|
|
NM_001113378.2(FANCI):c.3460C>T (p.Pro1154Ser)
|
|
|
|
NM_001113378.2(FANCI):c.3475G>T (p.Val1159Leu)
|
rs2054708416
|
|
|
NM_001113378.2(FANCI):c.3495C>G (p.Asp1165Glu)
|
|
|
|
NM_001113378.2(FANCI):c.3498G>C (p.Leu1166Phe)
|
|
|
|
NM_001113378.2(FANCI):c.3500G>T (p.Cys1167Phe)
|
rs1223721098
|
|
|
NM_001113378.2(FANCI):c.3506T>C (p.Met1169Thr)
|
rs2151924528
|
|
|
NM_001113378.2(FANCI):c.350G>C (p.Arg117Thr)
|
|
|
|
NM_001113378.2(FANCI):c.3520A>G (p.Thr1174Ala)
|
|
|
|
NM_001113378.2(FANCI):c.3532A>G (p.Arg1178Gly)
|
|
|
|
NM_001113378.2(FANCI):c.3537+3_3537+6del
|
rs780264785
|
|
|
NM_001113378.2(FANCI):c.3560C>A (p.Ser1187Tyr)
|
|
|
|
NM_001113378.2(FANCI):c.3563G>C (p.Gly1188Ala)
|
|
|
|
NM_001113378.2(FANCI):c.3568A>G (p.Ile1190Val)
|
rs2151940603
|
|
|
NM_001113378.2(FANCI):c.3578A>T (p.Asn1193Ile)
|
|
|
|
NM_001113378.2(FANCI):c.3591+4A>T
|
rs774180579
|
|
|
NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg)
|
rs747326740
|
|
|
NM_001113378.2(FANCI):c.3611A>T (p.His1204Leu)
|
|
|
|
NM_001113378.2(FANCI):c.3637A>G (p.Ile1213Val)
|
rs767466504
|
|
|
NM_001113378.2(FANCI):c.3646G>A (p.Val1216Ile)
|
rs978000003
|
|
|
NM_001113378.2(FANCI):c.3646G>T (p.Val1216Leu)
|
rs978000003
|
|
|
NM_001113378.2(FANCI):c.3651+3A>G
|
rs2151942001
|
|
|
NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=)
|
rs766147964
|
|
|
NM_001113378.2(FANCI):c.3653A>G (p.Asn1218Ser)
|
rs1352752568
|
|
|
NM_001113378.2(FANCI):c.3667C>G (p.Leu1223Val)
|
|
|
|
NM_001113378.2(FANCI):c.3670A>G (p.Asn1224Asp)
|
|
|
|
NM_001113378.2(FANCI):c.3676A>T (p.Thr1226Ser)
|
|
|
|
NM_001113378.2(FANCI):c.3689A>T (p.Lys1230Met)
|
|
|
|
NM_001113378.2(FANCI):c.3694A>G (p.Lys1232Glu)
|
rs1252915442
|
|
|
NM_001113378.2(FANCI):c.3696A>T (p.Lys1232Asn)
|
rs2055028402
|
|
|
NM_001113378.2(FANCI):c.3709G>A (p.Ala1237Thr)
|
rs751025656
|
|
|
NM_001113378.2(FANCI):c.3725G>A (p.Arg1242Lys)
|
rs2055130158
|
|
|
NM_001113378.2(FANCI):c.3733C>T (p.Arg1245Trp)
|
rs905867236
|
|
|
NM_001113378.2(FANCI):c.3737A>C (p.Glu1246Ala)
|
rs2152016970
|
|
|
NM_001113378.2(FANCI):c.3748A>G (p.Ile1250Val)
|
rs2055130868
|
|
|
NM_001113378.2(FANCI):c.3776A>C (p.Gln1259Pro)
|
|
|
|
NM_001113378.2(FANCI):c.3790C>T (p.Leu1264Phe)
|
|
|
|
NM_001113378.2(FANCI):c.3796C>T (p.His1266Tyr)
|
rs2152017364
|
|
|
NM_001113378.2(FANCI):c.379T>G (p.Leu127Val)
|
|
|
|
NM_001113378.2(FANCI):c.3828G>A (p.Met1276Ile)
|
rs745401006
|
|
|
NM_001113378.2(FANCI):c.3830A>G (p.Gln1277Arg)
|
rs2152030610
|
|
|
NM_001113378.2(FANCI):c.3836T>C (p.Met1279Thr)
|
|
|
|
NM_001113378.2(FANCI):c.3848C>G (p.Thr1283Ser)
|
rs2055184928
|
|
|
NM_001113378.2(FANCI):c.3848C>T (p.Thr1283Ile)
|
rs2055184928
|
|
|
NM_001113378.2(FANCI):c.3864_3869del (p.Ile1289_Lys1290del)
|
rs2152030819
|
|
|
NM_001113378.2(FANCI):c.3872G>C (p.Gly1291Ala)
|
|
|
|
NM_001113378.2(FANCI):c.3875A>G (p.Asn1292Ser)
|
rs2055185392
|
|
|
NM_001113378.2(FANCI):c.3886A>T (p.Met1296Leu)
|
|
|
|
NM_001113378.2(FANCI):c.3887T>C (p.Met1296Thr)
|
|
|
|
NM_001113378.2(FANCI):c.3888G>A (p.Met1296Ile)
|
rs777500700
|
|
|
NM_001113378.2(FANCI):c.3892C>A (p.Leu1298Ile)
|
rs150076848
|
|
|
NM_001113378.2(FANCI):c.3895C>G (p.Arg1299Gly)
|
rs551305056
|
|
|
NM_001113378.2(FANCI):c.3896G>A (p.Arg1299Gln)
|
rs138663330
|
|
|
NM_001113378.2(FANCI):c.3906_3907inv (p.Glu1303Lys)
|
|
|
|
NM_001113378.2(FANCI):c.3908A>G (p.Glu1303Gly)
|
rs1596343025
|
|
|
NM_001113378.2(FANCI):c.3924+1G>T
|
|
|
|
NM_001113378.2(FANCI):c.3925-10_3935inv
|
|
|
|
NM_001113378.2(FANCI):c.3956_3957del (p.Lys1319fs)
|
rs2152049557
|
|
|
NM_001113378.2(FANCI):c.3965C>T (p.Ala1322Val)
|
rs771174269
|
|
|
NM_001113378.2(FANCI):c.3971A>G (p.Lys1324Arg)
|
rs1402252175
|
|
|
NM_001113378.2(FANCI):c.3977G>C (p.Arg1326Thr)
|
|
|
|
NM_001113378.2(FANCI):c.3977_3981dup (p.Lys1328fs)
|
rs771578684
|
|
|
NM_001113378.2(FANCI):c.3984A>C (p.Lys1328Asn)
|
rs1159813655
|
|
|
NM_001113378.2(FANCI):c.3984dup (p.Ter1329IleextTer?)
|
|
|
|
NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys)
|
rs1411317487
|
|
|
NM_001113378.2(FANCI):c.3985_*2dup (p.Ter1329_Ter(1329_?)(?))
|
|
|
|
NM_001113378.2(FANCI):c.40G>A (p.Ala14Thr)
|
rs2052049943
|
|
|
NM_001113378.2(FANCI):c.429T>A (p.Asn143Lys)
|
rs2052718668
|
|
|
NM_001113378.2(FANCI):c.437A>G (p.Tyr146Cys)
|
|
|
|
NM_001113378.2(FANCI):c.443A>G (p.Lys148Arg)
|
rs1282962332
|
|
|
NM_001113378.2(FANCI):c.445G>A (p.Gly149Ser)
|
rs763494935
|
|
|
NM_001113378.2(FANCI):c.45C>G (p.Asp15Glu)
|
rs765811874
|
|
|
NM_001113378.2(FANCI):c.463G>A (p.Glu155Lys)
|
rs766640605
|
|
|
NM_001113378.2(FANCI):c.466T>C (p.Cys156Arg)
|
|
|
|
NM_001113378.2(FANCI):c.473A>T (p.Lys158Ile)
|
|
|
|
NM_001113378.2(FANCI):c.477G>T (p.Gln159His)
|
|
|
|
NM_001113378.2(FANCI):c.4G>T (p.Asp2Tyr)
|
rs2151054381
|
|
|
NM_001113378.2(FANCI):c.501C>T (p.Gly167=)
|
rs2151271104
|
|
|
NM_001113378.2(FANCI):c.503+6T>G
|
|
|
|
NM_001113378.2(FANCI):c.509A>T (p.Asp170Val)
|
rs1328734606
|
|
|
NM_001113378.2(FANCI):c.50T>G (p.Leu17Arg)
|
rs775891592
|
|
|
NM_001113378.2(FANCI):c.517T>C (p.Tyr173His)
|
rs2151291390
|
|
|
NM_001113378.2(FANCI):c.53A>G (p.Gln18Arg)
|
|
|
|
NM_001113378.2(FANCI):c.548A>T (p.Asp183Val)
|
|
|
|
NM_001113378.2(FANCI):c.553C>T (p.Pro185Ser)
|
|
|
|
NM_001113378.2(FANCI):c.560C>G (p.Thr187Ser)
|
|
|
|
NM_001113378.2(FANCI):c.563C>A (p.Ala188Glu)
|
rs2052827709
|
|
|
NM_001113378.2(FANCI):c.565G>A (p.Glu189Lys)
|
rs2052827867
|
|
|
NM_001113378.2(FANCI):c.565G>C (p.Glu189Gln)
|
|
|
|
NM_001113378.2(FANCI):c.568G>C (p.Glu190Gln)
|
|
|
|
NM_001113378.2(FANCI):c.574G>C (p.Glu192Gln)
|
|
|
|
NM_001113378.2(FANCI):c.587A>C (p.Glu196Ala)
|
|
|
|
NM_001113378.2(FANCI):c.599G>T (p.Ser200Ile)
|
|
|
|
NM_001113378.2(FANCI):c.603G>A (p.Met201Ile)
|
|
|
|
NM_001113378.2(FANCI):c.615G>C (p.Met205Ile)
|
|
|
|
NM_001113378.2(FANCI):c.620T>A (p.Leu207His)
|
|
|
|
NM_001113378.2(FANCI):c.623A>G (p.Gln208Arg)
|
rs368033980
|
|
|
NM_001113378.2(FANCI):c.634C>T (p.Pro212Ser)
|
rs2151297988
|
|
|
NM_001113378.2(FANCI):c.649C>T (p.Leu217Phe)
|
rs2052830473
|
|
|
NM_001113378.2(FANCI):c.688T>G (p.Leu230Val)
|
rs2151304688
|
|
|
NM_001113378.2(FANCI):c.68C>G (p.Thr23Ser)
|
|
|
|
NM_001113378.2(FANCI):c.697A>G (p.Ile233Val)
|
rs757102747
|
|
|
NM_001113378.2(FANCI):c.706T>C (p.Phe236Leu)
|
rs1356319036
|
|
|
NM_001113378.2(FANCI):c.706_707delinsGC (p.Phe236Ala)
|
rs2151304891
|
|
|
NM_001113378.2(FANCI):c.746G>A (p.Ser249Asn)
|
rs2052858701
|
|
|
NM_001113378.2(FANCI):c.754G>C (p.Glu252Gln)
|
|
|
|
NM_001113378.2(FANCI):c.755+3G>A
|
rs2151305411
|
|
|
NM_001113378.2(FANCI):c.756-6T>C
|
|
|
|
NM_001113378.2(FANCI):c.756-7C>A
|
|
|
|
NM_001113378.2(FANCI):c.757C>A (p.Leu253Ile)
|
|
|
|
NM_001113378.2(FANCI):c.765T>A (p.Asp255Glu)
|
|
|
|
NM_001113378.2(FANCI):c.765TGT[1] (p.Val257del)
|
rs1322941307
|
|
|
NM_001113378.2(FANCI):c.791T>A (p.Leu264His)
|
|
|
|
NM_001113378.2(FANCI):c.800T>C (p.Val267Ala)
|
rs1005232714
|
|
|
NM_001113378.2(FANCI):c.805G>A (p.Gly269Ser)
|
|
|
|
NM_001113378.2(FANCI):c.827T>C (p.Val276Ala)
|
|
|
|
NM_001113378.2(FANCI):c.835A>G (p.Ile279Val)
|
rs1434427258
|
|
|
NM_001113378.2(FANCI):c.838A>C (p.Lys280Gln)
|
rs2053065030
|
|
|
NM_001113378.2(FANCI):c.838A>G (p.Lys280Glu)
|
|
|
|
NM_001113378.2(FANCI):c.83A>G (p.Asp28Gly)
|
rs1060501902
|
|
|
NM_001113378.2(FANCI):c.865C>T (p.Leu289Phe)
|
|
|
|
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro)
|
rs1210148997
|
|
|
NM_001113378.2(FANCI):c.882+6A>G
|
|
|
|
NM_001113378.2(FANCI):c.883-4C>G
|
rs2053277160
|
|
|
NM_001113378.2(FANCI):c.896G>A (p.Gly299Glu)
|
rs2053277582
|
|
|
NM_001113378.2(FANCI):c.898G>T (p.Asp300Tyr)
|
rs1567151740
|
|
|
NM_001113378.2(FANCI):c.8A>G (p.Gln3Arg)
|
|
|
|
NM_001113378.2(FANCI):c.911A>G (p.Asn304Ser)
|
rs2053277912
|
|
|
NM_001113378.2(FANCI):c.919_920delinsGT (p.Pro307Val)
|
rs2053278264
|
|
|
NM_001113378.2(FANCI):c.92A>T (p.Asn31Ile)
|
|
|
|
NM_001113378.2(FANCI):c.933TCT[2] (p.Leu314del)
|
rs766563407
|
|
|
NM_001113378.2(FANCI):c.937C>G (p.Leu313Val)
|
|
|
|
NM_001113378.2(FANCI):c.938T>C (p.Leu313Pro)
|
|
|
|
NM_001113378.2(FANCI):c.93T>G (p.Asn31Lys)
|
|
|
|
NM_001113378.2(FANCI):c.950C>G (p.Thr317Arg)
|
rs774051668
|
|
|
NM_001113378.2(FANCI):c.953G>T (p.Arg318Ile)
|
|
|
|
NM_001113378.2(FANCI):c.956T>C (p.Ile319Thr)
|
rs1024430096
|
|
|
NM_001113378.2(FANCI):c.96_98del (p.Leu33del)
|
rs747603151
|
|
|
NM_001113378.2(FANCI):c.970G>T (p.Asp324Tyr)
|
rs2151439651
|
|
|
NM_001113378.2(FANCI):c.976-2_977dup
|
|
|
|
NM_001113378.2(FANCI):c.994A>C (p.Thr332Pro)
|
rs2053317531
|
|
|
NM_001113378.2(FANCI):c.998C>T (p.Ser333Leu)
|
rs761982725
|
|
|
NM_001113378.2(FANCI):c.9G>C (p.Gln3His)
|
|
|
|
NM_001113525.2(ZNF276):c.*1046A>G
|
rs1257557473
|
|
|
NM_001113525.2(ZNF276):c.*1227G>A
|
rs1353285713
|
|
|
NM_001113525.2(ZNF276):c.*1310G>C
|
|
|
|
NM_001113525.2(ZNF276):c.*1743C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1744T>C
|
rs2062087707
|
|
|
NM_001113525.2(ZNF276):c.*1867G>C
|
|
|
|
NM_001113525.2(ZNF276):c.*2623G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*468AG[2]
|
|
|
|
NM_001113525.2(ZNF276):c.*469G>C
|
|
|
|
NM_001113525.2(ZNF276):c.*471GAG[1]
|
rs2151710048
|
|
|
NM_001113525.2(ZNF276):c.*474_*481del
|
rs1567591276
|
|
|
NM_001113525.2(ZNF276):c.*630C>A
|
rs374793201
|
|
|
NM_001113525.2(ZNF276):c.*630C>G
|
rs374793201
|
|
|
NM_001113525.2(ZNF276):c.*630C>T
|
rs374793201
|
|
|
NM_001113525.2(ZNF276):c.*631G>A
|
|
|
|
NM_001271938.2(MEGF8):c.1010A>C (p.His337Pro)
|
|
|
|
NM_001271938.2(MEGF8):c.1028A>G (p.Asp343Gly)
|
|
|
|
NM_001271938.2(MEGF8):c.1031A>G (p.Asp344Gly)
|
|
|
|
NM_001271938.2(MEGF8):c.1085G>T (p.Gly362Val)
|
|
|
|
NM_001271938.2(MEGF8):c.1117G>A (p.Gly373Arg)
|
|
|
|
NM_001271938.2(MEGF8):c.112C>T (p.Arg38Trp)
|
|
|
|
NM_001271938.2(MEGF8):c.1225C>T (p.His409Tyr)
|
|
|
|
NM_001271938.2(MEGF8):c.1243C>G (p.Arg415Gly)
|
|
|
|
NM_001271938.2(MEGF8):c.1282G>A (p.Val428Met)
|
|
|
|
NM_001271938.2(MEGF8):c.1304C>T (p.Thr435Met)
|
|
|
|
NM_001271938.2(MEGF8):c.1343G>A (p.Arg448Gln)
|
|
|
|
NM_001271938.2(MEGF8):c.1378A>G (p.Met460Val)
|
rs764773192
|
|
|
NM_001271938.2(MEGF8):c.1706G>A (p.Ser569Asn)
|
|
|
|
NM_001271938.2(MEGF8):c.1707C>G (p.Ser569Arg)
|
|
|
|
NM_001271938.2(MEGF8):c.172G>A (p.Glu58Lys)
|
|
|
|
NM_001271938.2(MEGF8):c.1850C>T (p.Ala617Val)
|
|
|
|
NM_001271938.2(MEGF8):c.1921C>T (p.Leu641Phe)
|
rs1555781030
|
|
|
NM_001271938.2(MEGF8):c.1949G>A (p.Arg650Gln)
|
|
|
|
NM_001271938.2(MEGF8):c.1969A>G (p.Thr657Ala)
|
rs2039264644
|
|
|
NM_001271938.2(MEGF8):c.2321C>T (p.Ala774Val)
|
|
|
|
NM_001271938.2(MEGF8):c.2341C>T (p.Arg781Trp)
|
|
|
|
NM_001271938.2(MEGF8):c.2424G>C (p.Gln808His)
|
|
|
|
NM_001271938.2(MEGF8):c.2480C>G (p.Thr827Ser)
|
rs2147472784
|
|
|
NM_001271938.2(MEGF8):c.2660G>A (p.Gly887Asp)
|
|
|
|
NM_001271938.2(MEGF8):c.2681T>A (p.Val894Glu)
|
rs2039350288
|
|
|
NM_001271938.2(MEGF8):c.2689C>T (p.Leu897Phe)
|
rs777017134
|
|
|
NM_001271938.2(MEGF8):c.287G>A (p.Gly96Glu)
|
|
|
|
NM_001271938.2(MEGF8):c.2959C>G (p.His987Asp)
|
|
|
|
NM_001271938.2(MEGF8):c.3281C>T (p.Thr1094Met)
|
|
|
|
NM_001271938.2(MEGF8):c.328C>A (p.Pro110Thr)
|
|
|
|
NM_001271938.2(MEGF8):c.3452C>T (p.Ala1151Val)
|
rs2039399285
|
|
|
NM_001271938.2(MEGF8):c.3578G>A (p.Arg1193Gln)
|
|
|
|
NM_001271938.2(MEGF8):c.3791G>A (p.Gly1264Glu)
|
|
|
|
NM_001271938.2(MEGF8):c.3814G>A (p.Val1272Met)
|
rs770399527
|
|
|
NM_001271938.2(MEGF8):c.3887G>A (p.Gly1296Glu)
|
|
|
|
NM_001271938.2(MEGF8):c.413G>A (p.Arg138His)
|
|
|
|
NM_001271938.2(MEGF8):c.4144+4C>T
|
|
|
|
NM_001271938.2(MEGF8):c.4184C>T (p.Ser1395Phe)
|
rs1568568653
|
|
|
NM_001271938.2(MEGF8):c.4196A>G (p.Asn1399Ser)
|
|
|
|
NM_001271938.2(MEGF8):c.4234C>A (p.Pro1412Thr)
|
|
|
|
NM_001271938.2(MEGF8):c.428C>T (p.Pro143Leu)
|
rs765654107
|
|
|
NM_001271938.2(MEGF8):c.4415C>T (p.Ala1472Val)
|
|
|
|
NM_001271938.2(MEGF8):c.4529G>A (p.Arg1510His)
|
rs541874206
|
|
|
NM_001271938.2(MEGF8):c.4529G>T (p.Arg1510Leu)
|
|
|
|
NM_001271938.2(MEGF8):c.4600G>A (p.Gly1534Arg)
|
rs1285619780
|
|
|
NM_001271938.2(MEGF8):c.47C>G (p.Ala16Gly)
|
rs1050352479
|
|
|
NM_001271938.2(MEGF8):c.481G>A (p.Glu161Lys)
|
|
|
|
NM_001271938.2(MEGF8):c.4969G>T (p.Gly1657Cys)
|
rs770879154
|
|
|
NM_001271938.2(MEGF8):c.506G>A (p.Cys169Tyr)
|
|
|
|
NM_001271938.2(MEGF8):c.5102C>T (p.Pro1701Leu)
|
|
|
|
NM_001271938.2(MEGF8):c.5187G>T (p.Met1729Ile)
|
rs761809949
|
|
|
NM_001271938.2(MEGF8):c.5198G>A (p.Arg1733His)
|
|
|
|
NM_001271938.2(MEGF8):c.5231G>A (p.Gly1744Glu)
|
|
|
|
NM_001271938.2(MEGF8):c.5293C>T (p.Leu1765Phe)
|
rs1201933643
|
|
|
NM_001271938.2(MEGF8):c.5380G>T (p.Gly1794Trp)
|
|
|
|
NM_001271938.2(MEGF8):c.5383G>A (p.Asp1795Asn)
|
|
|
|
NM_001271938.2(MEGF8):c.5462A>G (p.Asn1821Ser)
|
|
|
|
NM_001271938.2(MEGF8):c.5597G>T (p.Arg1866Leu)
|
|
|
|
NM_001271938.2(MEGF8):c.5617C>A (p.Pro1873Thr)
|
rs2147493826
|
|
|
NM_001271938.2(MEGF8):c.5848T>A (p.Ser1950Thr)
|
rs1409781298
|
|
|
NM_001271938.2(MEGF8):c.5959T>C (p.Trp1987Arg)
|
|
|
|
NM_001271938.2(MEGF8):c.599G>A (p.Arg200His)
|
rs201881006
|
|
|
NM_001271938.2(MEGF8):c.6003C>T (p.Cys2001=)
|
rs536661123
|
|
|
NM_001271938.2(MEGF8):c.6004G>A (p.Glu2002Lys)
|
|
|
|
NM_001271938.2(MEGF8):c.6057A>G (p.Thr2019=)
|
|
|
|
NM_001271938.2(MEGF8):c.6080C>A (p.Ser2027Tyr)
|
rs2147497843
|
|
|
NM_001271938.2(MEGF8):c.6200G>A (p.Cys2067Tyr)
|
|
|
|
NM_001271938.2(MEGF8):c.6211C>A (p.Leu2071Met)
|
|
|
|
NM_001271938.2(MEGF8):c.6243G>C (p.Gln2081His)
|
rs1399203080
|
|
|
NM_001271938.2(MEGF8):c.6301C>G (p.Arg2101Gly)
|
rs2147506322
|
|
|
NM_001271938.2(MEGF8):c.6432G>C (p.Gln2144His)
|
|
|
|
NM_001271938.2(MEGF8):c.6571G>A (p.Glu2191Lys)
|
rs760913754
|
|
|
NM_001271938.2(MEGF8):c.6601G>A (p.Gly2201Ser)
|
|
|
|
NM_001271938.2(MEGF8):c.6641+14C>T
|
|
|
|
NM_001271938.2(MEGF8):c.682C>T (p.Arg228Cys)
|
|
|
|
NM_001271938.2(MEGF8):c.686T>C (p.Ile229Thr)
|
|
|
|
NM_001271938.2(MEGF8):c.68C>T (p.Pro23Leu)
|
|
|
|
NM_001271938.2(MEGF8):c.6910G>A (p.Ala2304Thr)
|
|
|
|
NM_001271938.2(MEGF8):c.6920G>T (p.Arg2307Leu)
|
rs142506261
|
|
|
NM_001271938.2(MEGF8):c.700G>A (p.Ala234Thr)
|
|
|
|
NM_001271938.2(MEGF8):c.7046C>G (p.Ala2349Gly)
|
|
|
|
NM_001271938.2(MEGF8):c.7260C>G (p.Tyr2420Ter)
|
|
|
|
NM_001271938.2(MEGF8):c.7269+19G>A
|
|
|
|
NM_001271938.2(MEGF8):c.7352G>C (p.Cys2451Ser)
|
rs2039754626
|
|
|
NM_001271938.2(MEGF8):c.7399C>T (p.Arg2467Cys)
|
rs769273382
|
|
|
NM_001271938.2(MEGF8):c.7475C>T (p.Thr2492Met)
|
|
|
|
NM_001271938.2(MEGF8):c.748C>T (p.Leu250Phe)
|
rs773064133
|
|
|
NM_001271938.2(MEGF8):c.7492G>A (p.Gly2498Arg)
|
|
|
|
NM_001271938.2(MEGF8):c.752A>G (p.Asn251Ser)
|
|
|
|
NM_001271938.2(MEGF8):c.7541G>A (p.Arg2514His)
|
|
|
|
NM_001271938.2(MEGF8):c.7598C>T (p.Pro2533Leu)
|
rs2147519774
|
|
|
NM_001271938.2(MEGF8):c.7732G>A (p.Val2578Met)
|
|
|
|
NM_001271938.2(MEGF8):c.7786C>A (p.Leu2596Met)
|
rs140517402
|
|
|
NM_001271938.2(MEGF8):c.77G>T (p.Arg26Leu)
|
rs377001753
|
|
|
NM_001271938.2(MEGF8):c.790G>A (p.Ala264Thr)
|
|
|
|
NM_001271938.2(MEGF8):c.8050C>T (p.Arg2684Trp)
|
|
|
|
NM_001271938.2(MEGF8):c.8057T>G (p.Leu2686Trp)
|
rs1555785144
|
|
|
NM_001271938.2(MEGF8):c.8140G>T (p.Ala2714Ser)
|
rs548176972
|
|
|
NM_001271938.2(MEGF8):c.8221G>A (p.Gly2741Ser)
|
|
|
|
NM_001271938.2(MEGF8):c.8227C>T (p.Pro2743Ser)
|
|
|
|
NM_001271938.2(MEGF8):c.8242G>C (p.Gly2748Arg)
|
rs2147521006
|
|
|
NM_001271938.2(MEGF8):c.8446G>T (p.Gly2816Cys)
|
|
|
|
NM_001278689.2(EOGT):c.1152+4A>G
|
|
|
|
NM_001278689.2(EOGT):c.118A>T (p.Ile40Phe)
|
rs2107402281
|
|
|
NM_001278689.2(EOGT):c.1386C>T (p.Gly462=)
|
rs1575701273
|
|
|
NM_001278689.2(EOGT):c.1396A>G (p.Ile466Val)
|
|
|
|
NM_001278689.2(EOGT):c.1404G>A (p.Trp468Ter)
|
rs1179649831
|
|
|
NM_001278689.2(EOGT):c.1408C>T (p.Arg470Trp)
|
|
|
|
NM_001278689.2(EOGT):c.1412A>G (p.Gln471Arg)
|
|
|
|
NM_001278689.2(EOGT):c.1440_1441delinsTT (p.His481Tyr)
|
|
|
|
NM_001278689.2(EOGT):c.1442A>G (p.His481Arg)
|
|
|
|
NM_001278689.2(EOGT):c.1443C>A (p.His481Gln)
|
|
|
|
NM_001278689.2(EOGT):c.1460A>G (p.Glu487Gly)
|
|
|
|
NM_001278689.2(EOGT):c.1531C>T (p.His511Tyr)
|
|
|
|
NM_001278689.2(EOGT):c.1534G>A (p.Val512Ile)
|
|
|
|
NM_001278689.2(EOGT):c.164G>A (p.Arg55Lys)
|
|
|
|
NM_001278689.2(EOGT):c.202C>G (p.Pro68Ala)
|
|
|
|
NM_001278689.2(EOGT):c.280T>C (p.Tyr94His)
|
|
|
|
NM_001278689.2(EOGT):c.293G>A (p.Ser98Asn)
|
|
|
|
NM_001278689.2(EOGT):c.305T>A (p.Met102Lys)
|
|
|
|
NM_001278689.2(EOGT):c.350A>G (p.Lys117Arg)
|
|
|
|
NM_001278689.2(EOGT):c.404G>C (p.Cys135Ser)
|
|
|
|
NM_001278689.2(EOGT):c.421-8A>G
|
|
|
|
NM_001278689.2(EOGT):c.430A>G (p.Ser144Gly)
|
|
|
|
NM_001278689.2(EOGT):c.455A>T (p.Gln152Leu)
|
rs2091407941
|
|
|
NM_001278689.2(EOGT):c.469A>G (p.Thr157Ala)
|
|
|
|
NM_001278689.2(EOGT):c.599G>A (p.Arg200His)
|
|
|
|
NM_001278689.2(EOGT):c.616T>A (p.Ser206Thr)
|
rs2091384133
|
|
|
NM_001278689.2(EOGT):c.647A>G (p.Gln216Arg)
|
|
|
|
NM_001278689.2(EOGT):c.701C>A (p.Pro234Gln)
|
|
|
|
NM_001278689.2(EOGT):c.701C>G (p.Pro234Arg)
|
rs766531917
|
|
|
NM_001278689.2(EOGT):c.754G>A (p.Asp252Asn)
|
|
|
|
NM_001278689.2(EOGT):c.79C>T (p.His27Tyr)
|
|
|
|
NM_001278689.2(EOGT):c.831+10A>T
|
|
|
|
NM_001346754.2(PIGW):c.1016_1018del (p.Val339del)
|
|
|
|
NM_001346754.2(PIGW):c.1030T>G (p.Leu344Val)
|
rs371945461
|
|
|
NM_001346754.2(PIGW):c.1060_1061del (p.Tyr355fs)
|
rs749338692
|
|
|
NM_001346754.2(PIGW):c.1062_1063del (p.Tyr355fs)
|
|
|
|
NM_001346754.2(PIGW):c.1063T>C (p.Tyr355His)
|
rs758655367
|
|
|
NM_001346754.2(PIGW):c.106dup (p.Arg36fs)
|
|
|
|
NM_001346754.2(PIGW):c.1097G>A (p.Arg366Gln)
|
rs769740282
|
|
|
NM_001346754.2(PIGW):c.1112T>C (p.Leu371Ser)
|
|
|
|
NM_001346754.2(PIGW):c.1115_1121del (p.Ala372fs)
|
rs779029016
|
|
|
NM_001346754.2(PIGW):c.1132G>A (p.Val378Ile)
|
rs79448900
|
|
|
NM_001346754.2(PIGW):c.1136C>G (p.Ala379Gly)
|
rs1183657483
|
|
|
NM_001346754.2(PIGW):c.1141A>C (p.Ser381Arg)
|
rs2142620901
|
|
|
NM_001346754.2(PIGW):c.116T>C (p.Leu39Pro)
|
|
|
|
NM_001346754.2(PIGW):c.1172G>A (p.Gly391Asp)
|
|
|
|
NM_001346754.2(PIGW):c.1202del (p.Leu401fs)
|
|
|
|
NM_001346754.2(PIGW):c.1238T>C (p.Leu413Pro)
|
rs2142621502
|
|
|
NM_001346754.2(PIGW):c.1238T>G (p.Leu413Arg)
|
|
|
|
NM_001346754.2(PIGW):c.1240A>C (p.Ile414Leu)
|
rs2142621523
|
|
|
NM_001346754.2(PIGW):c.1246T>C (p.Ser416Pro)
|
|
|
|
NM_001346754.2(PIGW):c.1249C>G (p.Pro417Ala)
|
|
|
|
NM_001346754.2(PIGW):c.1256C>A (p.Thr419Lys)
|
rs2142621645
|
|
|
NM_001346754.2(PIGW):c.1271C>G (p.Ser424Ter)
|
rs2074172383
|
|
|
NM_001346754.2(PIGW):c.1277C>T (p.Ser426Phe)
|
rs770369186
|
|
|
NM_001346754.2(PIGW):c.1286C>T (p.Pro429Leu)
|
|
|
|
NM_001346754.2(PIGW):c.1307C>A (p.Pro436His)
|
|
|
|
NM_001346754.2(PIGW):c.1334A>C (p.Asn445Thr)
|
rs1407125462
|
|
|
NM_001346754.2(PIGW):c.1349T>C (p.Ile450Thr)
|
|
|
|
NM_001346754.2(PIGW):c.1364C>G (p.Ser455Ter)
|
|
|
|
NM_001346754.2(PIGW):c.1369A>G (p.Ile457Val)
|
rs2142622297
|
|
|
NM_001346754.2(PIGW):c.1388A>C (p.Asn463Thr)
|
rs2142622453
|
|
|
NM_001346754.2(PIGW):c.1411A>G (p.Ser471Gly)
|
|
|
|
NM_001346754.2(PIGW):c.1421T>C (p.Leu474Ser)
|
|
|
|
NM_001346754.2(PIGW):c.1426G>A (p.Ala476Thr)
|
|
|
|
NM_001346754.2(PIGW):c.1433T>C (p.Phe478Ser)
|
rs2074175043
|
|
|
NM_001346754.2(PIGW):c.1446_1447del (p.Met484fs)
|
rs1223732394
|
|
|
NM_001346754.2(PIGW):c.1450A>G (p.Met484Val)
|
rs1290721958
|
|
|
NM_001346754.2(PIGW):c.1450_1451del (p.Met484fs)
|
rs768711087
|
|
|
NM_001346754.2(PIGW):c.1501_1502del (p.Val501fs)
|
|
|
|
NM_001346754.2(PIGW):c.158G>A (p.Trp53Ter)
|
|
|
|
NM_001346754.2(PIGW):c.159G>A (p.Trp53Ter)
|
|
|
|
NM_001346754.2(PIGW):c.15G>C (p.Gln5His)
|
|
|
|
NM_001346754.2(PIGW):c.15G>T (p.Gln5His)
|
|
|
|
NM_001346754.2(PIGW):c.234T>A (p.Phe78Leu)
|
|
|
|
NM_001346754.2(PIGW):c.262A>G (p.Ile88Val)
|
|
|
|
NM_001346754.2(PIGW):c.271_272delinsAT (p.Ala91Ile)
|
rs2142614917
|
|
|
NM_001346754.2(PIGW):c.291del (p.Tyr98fs)
|
|
|
|
NM_001346754.2(PIGW):c.296G>A (p.Arg99Gln)
|
|
|
|
NM_001346754.2(PIGW):c.296G>C (p.Arg99Pro)
|
rs769619152
|
|
|
NM_001346754.2(PIGW):c.308G>T (p.Cys103Phe)
|
rs2142615234
|
|
|
NM_001346754.2(PIGW):c.322C>T (p.Pro108Ser)
|
|
|
|
NM_001346754.2(PIGW):c.323C>T (p.Pro108Leu)
|
|
|
|
NM_001346754.2(PIGW):c.328C>G (p.Leu110Val)
|
rs2074157511
|
|
|
NM_001346754.2(PIGW):c.359G>A (p.Ser120Asn)
|
rs1433821334
|
|
|
NM_001346754.2(PIGW):c.385A>G (p.Ile129Val)
|
|
|
|
NM_001346754.2(PIGW):c.400G>A (p.Val134Ile)
|
|
|
|
NM_001346754.2(PIGW):c.407C>G (p.Thr136Ser)
|
rs762208126
|
|
|
NM_001346754.2(PIGW):c.410G>A (p.Ser137Asn)
|
rs2142615931
|
|
|
NM_001346754.2(PIGW):c.413C>T (p.Ala138Val)
|
|
|
|
NM_001346754.2(PIGW):c.436G>T (p.Ala146Ser)
|
|
|
|
NM_001346754.2(PIGW):c.455T>G (p.Phe152Cys)
|
|
|
|
NM_001346754.2(PIGW):c.460AGA[1] (p.Arg155del)
|
rs763712145
|
|
|
NM_001346754.2(PIGW):c.465A>C (p.Arg155Ser)
|
rs2142616280
|
|
|
NM_001346754.2(PIGW):c.485A>G (p.Tyr162Cys)
|
rs757111382
|
|
|
NM_001346754.2(PIGW):c.488G>T (p.Gly163Val)
|
rs2142616351
|
|
|
NM_001346754.2(PIGW):c.501G>C (p.Met167Ile)
|
|
|
|
NM_001346754.2(PIGW):c.530G>A (p.Gly177Glu)
|
rs2142616545
|
|
|
NM_001346754.2(PIGW):c.547C>G (p.Leu183Val)
|
|
|
|
NM_001346754.2(PIGW):c.558dup (p.Arg187fs)
|
rs2142616752
|
|
|
NM_001346754.2(PIGW):c.55G>A (p.Val19Met)
|
|
|
|
NM_001346754.2(PIGW):c.563G>C (p.Arg188Thr)
|
|
|
|
NM_001346754.2(PIGW):c.5C>A (p.Ser2Tyr)
|
|
|
|
NM_001346754.2(PIGW):c.606_608del (p.Leu203del)
|
rs2074161776
|
|
|
NM_001346754.2(PIGW):c.608T>C (p.Leu203Ser)
|
|
|
|
NM_001346754.2(PIGW):c.613T>G (p.Ser205Ala)
|
|
|
|
NM_001346754.2(PIGW):c.617_620del (p.Val206fs)
|
rs753385776
|
|
|
NM_001346754.2(PIGW):c.619T>A (p.Trp207Arg)
|
rs1334939813
|
|
|
NM_001346754.2(PIGW):c.623C>T (p.Pro208Leu)
|
|
|
|
NM_001346754.2(PIGW):c.643G>A (p.Gly215Arg)
|
|
|
|
NM_001346754.2(PIGW):c.660A>G (p.Ile220Met)
|
|
|
|
NM_001346754.2(PIGW):c.677A>G (p.Gln226Arg)
|
rs1337758912
|
|
|
NM_001346754.2(PIGW):c.683A>G (p.His228Arg)
|
|
|
|
NM_001346754.2(PIGW):c.704A>G (p.His235Arg)
|
rs1157493972
|
|
|
NM_001346754.2(PIGW):c.708del (p.His235_Trp236insTer)
|
rs764773930
|
|
|
NM_001346754.2(PIGW):c.728T>C (p.Ile243Thr)
|
|
|
|
NM_001346754.2(PIGW):c.749C>T (p.Pro250Leu)
|
rs1201986978
|
|
|
NM_001346754.2(PIGW):c.74G>A (p.Gly25Glu)
|
rs2142613690
|
|
|
NM_001346754.2(PIGW):c.775_776del (p.Leu258_Asn259insTer)
|
|
|
|
NM_001346754.2(PIGW):c.776A>G (p.Asn259Ser)
|
|
|
|
NM_001346754.2(PIGW):c.806C>G (p.Thr269Ser)
|
rs2142618358
|
|
|
NM_001346754.2(PIGW):c.826C>T (p.Leu276Phe)
|
rs2074165401
|
|
|
NM_001346754.2(PIGW):c.833T>G (p.Phe278Cys)
|
|
|
|
NM_001346754.2(PIGW):c.863G>T (p.Gly288Val)
|
rs1745821520
|
|
|
NM_001346754.2(PIGW):c.863del (p.Gly288fs)
|
rs753213838
|
|
|
NM_001346754.2(PIGW):c.871G>T (p.Gly291Cys)
|
rs2142618795
|
|
|
NM_001346754.2(PIGW):c.901G>T (p.Ala301Ser)
|
|
|
|
NM_001346754.2(PIGW):c.905A>G (p.Asn302Ser)
|
rs773486077
|
|
|
NM_001346754.2(PIGW):c.905A>T (p.Asn302Ile)
|
rs773486077
|
|
|
NM_001346754.2(PIGW):c.907C>T (p.Arg303Cys)
|
|
|
|
NM_001346754.2(PIGW):c.915AAT[1] (p.Ile307del)
|
rs2142619101
|
|
|
NM_001346754.2(PIGW):c.925A>G (p.Thr309Ala)
|
|
|
|
NM_001346754.2(PIGW):c.937G>C (p.Val313Leu)
|
rs2142619250
|
|
|
NM_001346754.2(PIGW):c.965C>T (p.Thr322Ile)
|
rs2074167451
|
|
|
NM_001346754.2(PIGW):c.979C>T (p.His327Tyr)
|
|
|
|
NM_001346754.2(PIGW):c.989G>A (p.Arg330Gln)
|
rs147971755
|
|
|
NM_001346754.2(PIGW):c.989G>T (p.Arg330Leu)
|
rs147971755
|
|
|
NM_001374353.1(GLI2):c.1022T>G (p.Leu341Arg)
|
|
|
|
NM_001374353.1(GLI2):c.1079C>T (p.Ser360Leu)
|
|
|
|
NM_001374353.1(GLI2):c.109G>A (p.Val37Met)
|
|
|
|
NM_001374353.1(GLI2):c.1136C>A (p.Thr379Asn)
|
|
|
|
NM_001374353.1(GLI2):c.1177A>G (p.Thr393Ala)
|
|
|
|
NM_001374353.1(GLI2):c.1262A>G (p.Asn421Ser)
|
|
|
|
NM_001374353.1(GLI2):c.1263C>G (p.Asn421Lys)
|
|
|
|
NM_001374353.1(GLI2):c.1300C>G (p.Gln434Glu)
|
rs767205563
|
|
|
NM_001374353.1(GLI2):c.1330G>A (p.Glu444Lys)
|
|
|
|
NM_001374353.1(GLI2):c.1342G>A (p.Gly448Arg)
|
|
|
|
NM_001374353.1(GLI2):c.140C>T (p.Ala47Val)
|
|
|
|
NM_001374353.1(GLI2):c.1433G>A (p.Arg478Gln)
|
rs2105051121
|
|
|
NM_001374353.1(GLI2):c.1447G>A (p.Glu483Lys)
|
|
|
|
NM_001374353.1(GLI2):c.1466C>T (p.Thr489Met)
|
|
|
|
NM_001374353.1(GLI2):c.1468-13C>A
|
|
|
|
NM_001374353.1(GLI2):c.1472A>C (p.Glu491Ala)
|
|
|
|
NM_001374353.1(GLI2):c.1483_1494del (p.Lys495_Ser498del)
|
rs1682772612
|
|
|
NM_001374353.1(GLI2):c.1490A>C (p.Tyr497Ser)
|
rs1553477146
|
|
|
NM_001374353.1(GLI2):c.1518C>A (p.His506Gln)
|
|
|
|
NM_001374353.1(GLI2):c.1537G>C (p.Glu513Gln)
|
|
|
|
NM_001374353.1(GLI2):c.1589C>T (p.Ala530Val)
|
|
|
|
NM_001374353.1(GLI2):c.1658G>T (p.Gly553Val)
|
|
|
|
NM_001374353.1(GLI2):c.1672T>C (p.Tyr558His)
|
rs763503195
|
|
|
NM_001374353.1(GLI2):c.1691T>G (p.Leu564Arg)
|
rs2105070545
|
|
|
NM_001374353.1(GLI2):c.1798G>A (p.Glu600Lys)
|
rs2105071104
|
|
|
NM_001374353.1(GLI2):c.1805G>A (p.Gly602Asp)
|
|
|
|
NM_001374353.1(GLI2):c.1819G>A (p.Gly607Ser)
|
|
|
|
NM_001374353.1(GLI2):c.1868G>C (p.Cys623Ser)
|
|
|
|
NM_001374353.1(GLI2):c.1897A>C (p.Ser633Arg)
|
|
|
|
NM_001374353.1(GLI2):c.1903G>A (p.Gly635Arg)
|
|
|
|
NM_001374353.1(GLI2):c.1905+3A>G
|
|
|
|
NM_001374353.1(GLI2):c.1907T>C (p.Leu636Pro)
|
rs1373160690
|
|
|
NM_001374353.1(GLI2):c.1934C>T (p.Ser645Leu)
|
|
|
|
NM_001374353.1(GLI2):c.195C>G (p.Asp65Glu)
|
|
|
|
NM_001374353.1(GLI2):c.2028C>A (p.Asp676Glu)
|
|
|
|
NM_001374353.1(GLI2):c.2033C>T (p.Thr678Met)
|
|
|
|
NM_001374353.1(GLI2):c.2089G>T (p.Ala697Ser)
|
|
|
|
NM_001374353.1(GLI2):c.2152_2154del (p.Glu718del)
|
rs1682985936
|
|
|
NM_001374353.1(GLI2):c.2161A>C (p.Lys721Gln)
|
|
|
|
NM_001374353.1(GLI2):c.2162A>G (p.Lys721Arg)
|
|
|
|
NM_001374353.1(GLI2):c.2177C>T (p.Ser726Phe)
|
|
|
|
NM_001374353.1(GLI2):c.2210G>A (p.Arg737Gln)
|
rs144782119
|
|
|
NM_001374353.1(GLI2):c.2210G>C (p.Arg737Pro)
|
rs144782119
|
|
|
NM_001374353.1(GLI2):c.2242G>A (p.Gly748Ser)
|
|
|
|
NM_001374353.1(GLI2):c.2243G>C (p.Gly748Ala)
|
|
|
|
NM_001374353.1(GLI2):c.2245T>C (p.Ser749Pro)
|
|
|
|
NM_001374353.1(GLI2):c.2288C>T (p.Ala763Val)
|
|
|
|
NM_001374353.1(GLI2):c.2291G>A (p.Gly764Glu)
|
|
|
|
NM_001374353.1(GLI2):c.2440_2442del (p.Ser815del)
|
rs770837314
|
|
|
NM_001374353.1(GLI2):c.2453C>G (p.Ser818Cys)
|
|
|
|
NM_001374353.1(GLI2):c.248T>C (p.Val83Ala)
|
|
|
|
NM_001374353.1(GLI2):c.2561A>G (p.Gln854Arg)
|
|
|
|
NM_001374353.1(GLI2):c.2702C>T (p.Ala901Val)
|
|
|
|
NM_001374353.1(GLI2):c.2714C>T (p.Ala905Val)
|
|
|
|
NM_001374353.1(GLI2):c.2715_2735dup (p.Ala912_Gly913insProGluArgThrLeuProAla)
|
|
|
|
NM_001374353.1(GLI2):c.271G>A (p.Gly91Ser)
|
|
|
|
NM_001374353.1(GLI2):c.2732C>T (p.Pro911Leu)
|
|
|
|
NM_001374353.1(GLI2):c.2747G>A (p.Arg916His)
|
|
|
|
NM_001374353.1(GLI2):c.2789G>A (p.Gly930Asp)
|
|
|
|
NM_001374353.1(GLI2):c.2797C>G (p.His933Asp)
|
|
|
|
NM_001374353.1(GLI2):c.2836G>A (p.Gly946Ser)
|
rs2105088610
|
|
|
NM_001374353.1(GLI2):c.285C>G (p.Ile95Met)
|
|
|
|
NM_001374353.1(GLI2):c.2860G>A (p.Asp954Asn)
|
rs1683119644
|
|
|
NM_001374353.1(GLI2):c.2872C>T (p.Arg958Trp)
|
|
|
|
NM_001374353.1(GLI2):c.2893C>A (p.Pro965Thr)
|
|
|
|
NM_001374353.1(GLI2):c.2905C>T (p.Arg969Cys)
|
|
|
|
NM_001374353.1(GLI2):c.292A>G (p.Ile98Val)
|
|
|
|
NM_001374353.1(GLI2):c.2933C>G (p.Pro978Arg)
|
|
|
|
NM_001374353.1(GLI2):c.294C>G (p.Ile98Met)
|
|
|
|
NM_001374353.1(GLI2):c.2956G>A (p.Asp986Asn)
|
|
|
|
NM_001374353.1(GLI2):c.3007G>C (p.Ala1003Pro)
|
|
|
|
NM_001374353.1(GLI2):c.3020A>G (p.Tyr1007Cys)
|
|
|
|
NM_001374353.1(GLI2):c.304C>T (p.Arg102Trp)
|
|
|
|
NM_001374353.1(GLI2):c.3172A>G (p.Ser1058Gly)
|
|
|
|
NM_001374353.1(GLI2):c.317A>G (p.His106Arg)
|
|
|
|
NM_001374353.1(GLI2):c.3196G>A (p.Gly1066Arg)
|
|
|
|
NM_001374353.1(GLI2):c.3230C>T (p.Ser1077Phe)
|
|
|
|
NM_001374353.1(GLI2):c.3265G>C (p.Gly1089Arg)
|
|
|
|
NM_001374353.1(GLI2):c.3293C>T (p.Ser1098Phe)
|
|
|
|
NM_001374353.1(GLI2):c.3297C>G (p.Asn1099Lys)
|
rs368638181
|
|
|
NM_001374353.1(GLI2):c.3350C>T (p.Pro1117Leu)
|
|
|
|
NM_001374353.1(GLI2):c.3361A>G (p.Asn1121Asp)
|
|
|
|
NM_001374353.1(GLI2):c.3364A>G (p.Lys1122Glu)
|
|
|
|
NM_001374353.1(GLI2):c.3409G>T (p.Val1137Leu)
|
|
|
|
NM_001374353.1(GLI2):c.3418C>G (p.Leu1140Val)
|
|
|
|
NM_001374353.1(GLI2):c.3459C>G (p.Asn1153Lys)
|
|
|
|
NM_001374353.1(GLI2):c.3466G>T (p.Val1156Leu)
|
|
|
|
NM_001374353.1(GLI2):c.3482C>G (p.Pro1161Arg)
|
rs2105092684
|
|
|
NM_001374353.1(GLI2):c.3577G>A (p.Gly1193Arg)
|
|
|
|
NM_001374353.1(GLI2):c.3583C>T (p.Pro1195Ser)
|
|
|
|
NM_001374353.1(GLI2):c.3644G>A (p.Ser1215Asn)
|
|
|
|
NM_001374353.1(GLI2):c.364G>T (p.Val122Leu)
|
|
|
|
NM_001374353.1(GLI2):c.3665C>T (p.Thr1222Ile)
|
|
|
|
NM_001374353.1(GLI2):c.3689A>G (p.Tyr1230Cys)
|
|
|
|
NM_001374353.1(GLI2):c.3696A>C (p.Gln1232His)
|
|
|
|
NM_001374353.1(GLI2):c.3701A>C (p.His1234Pro)
|
|
|
|
NM_001374353.1(GLI2):c.3706C>G (p.Gln1236Glu)
|
|
|
|
NM_001374353.1(GLI2):c.3766A>G (p.Met1256Val)
|
|
|
|
NM_001374353.1(GLI2):c.3839A>G (p.Asn1280Ser)
|
|
|
|
NM_001374353.1(GLI2):c.3887_3888inv (p.Pro1296Leu)
|
|
|
|
NM_001374353.1(GLI2):c.3901G>A (p.Val1301Ile)
|
|
|
|
NM_001374353.1(GLI2):c.3905A>G (p.Gln1302Arg)
|
|
|
|
NM_001374353.1(GLI2):c.3967G>C (p.Val1323Leu)
|
|
|
|
NM_001374353.1(GLI2):c.4018G>A (p.Gly1340Ser)
|
|
|
|
NM_001374353.1(GLI2):c.4019G>A (p.Gly1340Asp)
|
|
|
|
NM_001374353.1(GLI2):c.4028G>C (p.Gly1343Ala)
|
|
|
|
NM_001374353.1(GLI2):c.4039G>A (p.Ala1347Thr)
|
|
|
|
NM_001374353.1(GLI2):c.4127T>G (p.Leu1376Arg)
|
|
|
|
NM_001374353.1(GLI2):c.4157T>C (p.Met1386Thr)
|
|
|
|
NM_001374353.1(GLI2):c.4184C>T (p.Thr1395Ile)
|
|
|
|
NM_001374353.1(GLI2):c.4189G>C (p.Glu1397Gln)
|
|
|
|
NM_001374353.1(GLI2):c.4292A>G (p.Tyr1431Cys)
|
|
|
|
NM_001374353.1(GLI2):c.4357C>T (p.Arg1453Trp)
|
|
|
|
NM_001374353.1(GLI2):c.4361C>G (p.Ser1454Cys)
|
|
|
|
NM_001374353.1(GLI2):c.4434G>C (p.Gln1478His)
|
|
|
|
NM_001374353.1(GLI2):c.4468G>A (p.Ala1490Thr)
|
rs1187651972
|
|
|
NM_001374353.1(GLI2):c.4476G>T (p.Gln1492His)
|
|
|
|
NM_001374353.1(GLI2):c.449C>T (p.Pro150Leu)
|
rs2104951410
|
|
|
NM_001374353.1(GLI2):c.4504G>A (p.Gly1502Ser)
|
|
|
|
NM_001374353.1(GLI2):c.451G>C (p.Ala151Pro)
|
rs781771721
|
|
|
NM_001374353.1(GLI2):c.4526C>T (p.Ser1509Leu)
|
|
|
|
NM_001374353.1(GLI2):c.4528G>C (p.Gly1510Arg)
|
|
|
|
NM_001374353.1(GLI2):c.4552C>T (p.His1518Tyr)
|
|
|
|
NM_001374353.1(GLI2):c.4586C>T (p.Thr1529Ile)
|
|
|
|
NM_001374353.1(GLI2):c.4621G>A (p.Ala1541Thr)
|
|
|
|
NM_001374353.1(GLI2):c.493G>T (p.Gly165Cys)
|
|
|
|
NM_001374353.1(GLI2):c.508G>C (p.Gly170Arg)
|
|
|
|
NM_001374353.1(GLI2):c.539T>G (p.Met180Arg)
|
|
|
|
NM_001374353.1(GLI2):c.547G>A (p.Val183Met)
|
|
|
|
NM_001374353.1(GLI2):c.562G>A (p.Ala188Thr)
|
|
|
|
NM_001374353.1(GLI2):c.649C>T (p.Arg217Cys)
|
|
|
|
NM_001374353.1(GLI2):c.713T>C (p.Leu238Pro)
|
rs1558923316
|
|
|
NM_001374353.1(GLI2):c.764C>T (p.Ser255Leu)
|
|
|
|
NM_001374353.1(GLI2):c.770T>C (p.Val257Ala)
|
rs1573698341
|
|
|
NM_001374353.1(GLI2):c.83C>A (p.Pro28Gln)
|
|
|
|
NM_001374353.1(GLI2):c.862C>T (p.Pro288Ser)
|
|
|
|
NM_001374353.1(GLI2):c.908A>C (p.Gln303Pro)
|
|
|
|
NM_001374353.1(GLI2):c.968T>C (p.Phe323Ser)
|
|
|
|
NM_001374353.1(GLI2):c.971T>C (p.Leu324Pro)
|
|
|
|
NM_001374353.1(GLI2):c.985A>G (p.Met329Val)
|
|
|
|
NM_001429.4(EP300):c.104C>G (p.Ser35Cys)
|
rs2145696235
|
|
|
NM_001429.4(EP300):c.1226A>G (p.His409Arg)
|
|
|
|
NM_001429.4(EP300):c.1282C>T (p.Pro428Ser)
|
|
|
|
NM_001429.4(EP300):c.1352C>A (p.Pro451His)
|
|
|
|
NM_001429.4(EP300):c.1357C>G (p.Leu453Val)
|
|
|
|
NM_001429.4(EP300):c.1372C>G (p.Gln458Glu)
|
|
|
|
NM_001429.4(EP300):c.1403A>T (p.Tyr468Phe)
|
rs587778262
|
|
|
NM_001429.4(EP300):c.1420C>T (p.Pro474Ser)
|
|
|
|
NM_001429.4(EP300):c.1443_1444delinsAC (p.Thr482Pro)
|
|
|
|
NM_001429.4(EP300):c.1456G>C (p.Val486Leu)
|
|
|
|
NM_001429.4(EP300):c.1465A>G (p.Lys489Glu)
|
|
|
|
NM_001429.4(EP300):c.151A>G (p.Thr51Ala)
|
|
|
|
NM_001429.4(EP300):c.1553G>A (p.Gly518Glu)
|
|
|
|
NM_001429.4(EP300):c.1553G>C (p.Gly518Ala)
|
|
|
|
NM_001429.4(EP300):c.1654T>C (p.Ser552Pro)
|
rs587778263
|
|
|
NM_001429.4(EP300):c.1663C>T (p.Pro555Ser)
|
|
|
|
NM_001429.4(EP300):c.1672A>T (p.Thr558Ser)
|
rs1057519397
|
|
|
NM_001429.4(EP300):c.1673C>G (p.Thr558Arg)
|
|
|
|
NM_001429.4(EP300):c.1681C>G (p.Gln561Glu)
|
|
|
|
NM_001429.4(EP300):c.170A>G (p.Asn57Ser)
|
|
|
|
NM_001429.4(EP300):c.1761C>T (p.Leu587=)
|
|
|
|
NM_001429.4(EP300):c.1810C>T (p.Arg604Trp)
|
|
|
|
NM_001429.4(EP300):c.189G>C (p.Gln63His)
|
|
|
|
NM_001429.4(EP300):c.1989C>T (p.Gly663=)
|
rs1291428868
|
|
|
NM_001429.4(EP300):c.1996C>T (p.Pro666Ser)
|
|
|
|
NM_001429.4(EP300):c.2023A>G (p.Met675Val)
|
|
|
|
NM_001429.4(EP300):c.2041G>A (p.Gly681Arg)
|
|
|
|
NM_001429.4(EP300):c.2052T>G (p.Ser684=)
|
|
|
|
NM_001429.4(EP300):c.2053+5G>C
|
|
|
|
NM_001429.4(EP300):c.2104A>G (p.Met702Val)
|
|
|
|
NM_001429.4(EP300):c.2122C>A (p.Pro708Thr)
|
|
|
|
NM_001429.4(EP300):c.2167C>A (p.Pro723Thr)
|
|
|
|
NM_001429.4(EP300):c.2188A>G (p.Thr730Ala)
|
|
|
|
NM_001429.4(EP300):c.2191C>T (p.Pro731Ser)
|
|
|
|
NM_001429.4(EP300):c.2203C>T (p.His735Tyr)
|
|
|
|
NM_001429.4(EP300):c.2261G>A (p.Arg754His)
|
rs544338126
|
|
|
NM_001429.4(EP300):c.2261G>C (p.Arg754Pro)
|
|
|
|
NM_001429.4(EP300):c.2261G>T (p.Arg754Leu)
|
|
|
|
NM_001429.4(EP300):c.2279A>T (p.Asn760Ile)
|
|
|
|
NM_001429.4(EP300):c.2302A>G (p.Thr768Ala)
|
|
|
|
NM_001429.4(EP300):c.2462A>T (p.Gln821Leu)
|
|
|
|
NM_001429.4(EP300):c.2507C>T (p.Pro836Leu)
|
|
|
|
NM_001429.4(EP300):c.2539C>G (p.Pro847Ala)
|
|
|
|
NM_001429.4(EP300):c.2548G>T (p.Gly850Trp)
|
|
|
|
NM_001429.4(EP300):c.2567CAA[2] (p.Thr858del)
|
|
|
|
NM_001429.4(EP300):c.2567CAA[4] (p.Thr858_Ile859insThr)
|
|
|
|
NM_001429.4(EP300):c.2591C>T (p.Pro864Leu)
|
|
|
|
NM_001429.4(EP300):c.2641C>T (p.Pro881Ser)
|
|
|
|
NM_001429.4(EP300):c.2647A>G (p.Arg883Gly)
|
rs2059034589
|
|
|
NM_001429.4(EP300):c.2657C>G (p.Pro886Arg)
|
|
|
|
NM_001429.4(EP300):c.2720C>T (p.Ala907Val)
|
|
|
|
NM_001429.4(EP300):c.2838C>G (p.Ser946Arg)
|
rs2059047440
|
|
|
NM_001429.4(EP300):c.2864C>A (p.Pro955Gln)
|
|
|
|
NM_001429.4(EP300):c.2870C>G (p.Thr957Ser)
|
|
|
|
NM_001429.4(EP300):c.2872A>G (p.Ser958Gly)
|
|
|
|
NM_001429.4(EP300):c.2891C>A (p.Ser964Tyr)
|
|
|
|
NM_001429.4(EP300):c.2894A>T (p.Gln965Leu)
|
|
|
|
NM_001429.4(EP300):c.28C>T (p.Pro10Ser)
|
rs2145665490
|
|
|
NM_001429.4(EP300):c.2913G>C (p.Gln971His)
|
|
|
|
NM_001429.4(EP300):c.2946G>A (p.Met982Ile)
|
|
|
|
NM_001429.4(EP300):c.2955T>A (p.Asp985Glu)
|
|
|
|
NM_001429.4(EP300):c.2965C>A (p.Pro989Thr)
|
|
|
|
NM_001429.4(EP300):c.2975C>G (p.Thr992Ser)
|
|
|
|
NM_001429.4(EP300):c.2998-13del
|
|
|
|
NM_001429.4(EP300):c.3031G>C (p.Glu1011Gln)
|
rs775368605
|
|
|
NM_001429.4(EP300):c.3084C>A (p.Asp1028Glu)
|
|
|
|
NM_001429.4(EP300):c.3118G>A (p.Ala1040Thr)
|
rs2145741097
|
|
|
NM_001429.4(EP300):c.3143-3A>T
|
rs749597275
|
|
|
NM_001429.4(EP300):c.3178C>T (p.Pro1060Ser)
|
rs2059069019
|
|
|
NM_001429.4(EP300):c.320A>G (p.Gln107Arg)
|
|
|
|
NM_001429.4(EP300):c.3261+3A>G
|
|
|
|
NM_001429.4(EP300):c.3310A>G (p.Arg1104Gly)
|
|
|
|
NM_001429.4(EP300):c.3397C>T (p.Arg1133Trp)
|
|
|
|
NM_001429.4(EP300):c.3458T>A (p.Ile1153Asn)
|
|
|
|
NM_001429.4(EP300):c.3464C>T (p.Pro1155Leu)
|
|
|
|
NM_001429.4(EP300):c.3553A>G (p.Ile1185Val)
|
|
|
|
NM_001429.4(EP300):c.3568A>G (p.Thr1190Ala)
|
|
|
|
NM_001429.4(EP300):c.3590+4A>T
|
|
|
|
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met)
|
rs143660871
|
|
|
NM_001429.4(EP300):c.3625C>G (p.Gln1209Glu)
|
|
|
|
NM_001429.4(EP300):c.3686A>G (p.Glu1229Gly)
|
|
|
|
NM_001429.4(EP300):c.3728T>A (p.Leu1243Gln)
|
|
|
|
NM_001429.4(EP300):c.3752G>A (p.Gly1251Glu)
|
|
|
|
NM_001429.4(EP300):c.3800CTG[1] (p.Ala1268del)
|
|
|
|
NM_001429.4(EP300):c.3827T>C (p.Leu1276Ser)
|
|
|
|
NM_001429.4(EP300):c.3872A>C (p.Lys1291Thr)
|
|
|
|
NM_001429.4(EP300):c.4009C>T (p.Pro1337Ser)
|
rs2145762914
|
|
|
NM_001429.4(EP300):c.4019A>G (p.Lys1340Arg)
|
|
|
|
NM_001429.4(EP300):c.4020A>T (p.Lys1340Asn)
|
|
|
|
NM_001429.4(EP300):c.4044G>T (p.Glu1348Asp)
|
|
|
|
NM_001429.4(EP300):c.4067G>C (p.Arg1356Pro)
|
|
|
|
NM_001429.4(EP300):c.4070C>A (p.Thr1357Asn)
|
|
|
|
NM_001429.4(EP300):c.4172+5del
|
|
|
|
NM_001429.4(EP300):c.4186T>C (p.Ser1396Pro)
|
|
|
|
NM_001429.4(EP300):c.4256T>C (p.Ile1419Thr)
|
|
|
|
NM_001429.4(EP300):c.4331A>G (p.Asp1444Gly)
|
rs1569117388
|
|
|
NM_001429.4(EP300):c.4357C>A (p.Pro1453Thr)
|
|
|
|
NM_001429.4(EP300):c.4360G>C (p.Asp1454His)
|
|
|
|
NM_001429.4(EP300):c.437G>A (p.Gly146Asp)
|
|
|
|
NM_001429.4(EP300):c.4433G>A (p.Arg1478His)
|
|
|
|
NM_001429.4(EP300):c.4452+20_4452+21delinsTT
|
|
|
|
NM_001429.4(EP300):c.4480A>G (p.Arg1494Gly)
|
|
|
|
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu)
|
rs1555911573
|
|
|
NM_001429.4(EP300):c.4529C>G (p.Pro1510Arg)
|
rs1569118503
|
|
|
NM_001429.4(EP300):c.4564_4572del (p.Gln1522_Glu1524del)
|
|
|
|
NM_001429.4(EP300):c.4618-18_4618-17delinsTC
|
|
|
|
NM_001429.4(EP300):c.4653G>T (p.Lys1551Asn)
|
|
|
|
NM_001429.4(EP300):c.4723A>G (p.Asn1575Asp)
|
|
|
|
NM_001429.4(EP300):c.4735G>T (p.Asp1579Tyr)
|
|
|
|
NM_001429.4(EP300):c.4756G>T (p.Ala1586Ser)
|
rs1480723806
|
|
|
NM_001429.4(EP300):c.47C>G (p.Pro16Arg)
|
|
|
|
NM_001429.4(EP300):c.4829C>T (p.Pro1610Leu)
|
|
|
|
NM_001429.4(EP300):c.4857C>G (p.Ile1619Met)
|
|
|
|
NM_001429.4(EP300):c.4923C>G (p.Phe1641Leu)
|
|
|
|
NM_001429.4(EP300):c.4934_4939del (p.Arg1645_Ala1647delinsPro)
|
|
|
|
NM_001429.4(EP300):c.494T>C (p.Met165Thr)
|
|
|
|
NM_001429.4(EP300):c.4960A>C (p.Met1654Leu)
|
|
|
|
NM_001429.4(EP300):c.4960A>G (p.Met1654Val)
|
|
|
|
NM_001429.4(EP300):c.4994G>A (p.Arg1665His)
|
rs1601639332
|
|
|
NM_001429.4(EP300):c.5053G>C (p.Val1685Leu)
|
|
|
|
NM_001429.4(EP300):c.5062-3T>C
|
|
|
|
NM_001429.4(EP300):c.5153A>T (p.Asn1718Ile)
|
|
|
|
NM_001429.4(EP300):c.5210G>A (p.Arg1737His)
|
|
|
|
NM_001429.4(EP300):c.521A>G (p.Asn174Ser)
|
|
|
|
NM_001429.4(EP300):c.5231A>G (p.His1744Arg)
|
|
|
|
NM_001429.4(EP300):c.5288G>A (p.Arg1763Gln)
|
|
|
|
NM_001429.4(EP300):c.529A>G (p.Met177Val)
|
|
|
|
NM_001429.4(EP300):c.5332G>A (p.Gly1778Arg)
|
|
|
|
NM_001429.4(EP300):c.5411C>T (p.Pro1804Leu)
|
|
|
|
NM_001429.4(EP300):c.5422A>C (p.Asn1808His)
|
rs1569120861
|
|
|
NM_001429.4(EP300):c.5441G>T (p.Arg1814Leu)
|
|
|
|
NM_001429.4(EP300):c.5472G>C (p.Gln1824His)
|
|
|
|
NM_001429.4(EP300):c.5532A>C (p.Gln1844His)
|
|
|
|
NM_001429.4(EP300):c.5546C>T (p.Ser1849Phe)
|
|
|
|
NM_001429.4(EP300):c.5556_5564del (p.Ala1853_Pro1855del)
|
rs1555912151
|
|
|
NM_001429.4(EP300):c.5558C>G (p.Ala1853Gly)
|
|
|
|
NM_001429.4(EP300):c.5560A>C (p.Thr1854Pro)
|
|
|
|
NM_001429.4(EP300):c.5587C>G (p.Pro1863Ala)
|
|
|
|
NM_001429.4(EP300):c.5602A>T (p.Thr1868Ser)
|
|
|
|
NM_001429.4(EP300):c.5620CAGCCT[1] (p.1874QP[1])
|
|
|
|
NM_001429.4(EP300):c.5665A>G (p.Arg1889Gly)
|
|
|
|
NM_001429.4(EP300):c.5678C>T (p.Ala1893Val)
|
|
|
|
NM_001429.4(EP300):c.5713G>A (p.Val1905Met)
|
|
|
|
NM_001429.4(EP300):c.5719C>T (p.Pro1907Ser)
|
|
|
|
NM_001429.4(EP300):c.5759G>T (p.Gly1920Val)
|
|
|
|
NM_001429.4(EP300):c.5807C>T (p.Ala1936Val)
|
rs1301825643
|
|
|
NM_001429.4(EP300):c.5858A>G (p.Gln1953Arg)
|
|
|
|
NM_001429.4(EP300):c.5866A>G (p.Met1956Val)
|
|
|
|
NM_001429.4(EP300):c.5888C>A (p.Ala1963Asp)
|
|
|
|
NM_001429.4(EP300):c.5943G>T (p.Glu1981Asp)
|
|
|
|
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser)
|
rs1210404526
|
|
|
NM_001429.4(EP300):c.6045G>A (p.Met2015Ile)
|
|
|
|
NM_001429.4(EP300):c.6045G>T (p.Met2015Ile)
|
|
|
|
NM_001429.4(EP300):c.6112A>G (p.Ile2038Val)
|
|
|
|
NM_001429.4(EP300):c.6131G>A (p.Gly2044Asp)
|
|
|
|
NM_001429.4(EP300):c.6142CAA[1] (p.Gln2049del)
|
|
|
|
NM_001429.4(EP300):c.6148G>C (p.Ala2050Pro)
|
|
|
|
NM_001429.4(EP300):c.6204A>C (p.Gln2068His)
|
|
|
|
NM_001429.4(EP300):c.6245C>G (p.Ala2082Gly)
|
|
|
|
NM_001429.4(EP300):c.6287A>G (p.Asn2096Ser)
|
rs1762014323
|
|
|
NM_001429.4(EP300):c.6303_6323del (p.Met2106_Gly2112del)
|
|
|
|
NM_001429.4(EP300):c.6312_6332del (p.Met2106_Gly2112del)
|
rs755425119
|
|
|
NM_001429.4(EP300):c.6323A>C (p.Gln2108Pro)
|
|
|
|
NM_001429.4(EP300):c.6374A>G (p.His2125Arg)
|
rs886057568
|
|
|
NM_001429.4(EP300):c.6394A>G (p.Asn2132Asp)
|
|
|
|
NM_001429.4(EP300):c.6402T>G (p.Asn2134Lys)
|
|
|
|
NM_001429.4(EP300):c.6435_6446dup (p.Gln2153_Leu2154insProGlnGlnGln)
|
|
|
|
NM_001429.4(EP300):c.6448C>A (p.Pro2150Thr)
|
|
|
|
NM_001429.4(EP300):c.6449_6460del (p.2146PQQQ[1])
|
rs758586599
|
|
|
NM_001429.4(EP300):c.6467C>T (p.Pro2156Leu)
|
|
|
|
NM_001429.4(EP300):c.6472A>G (p.Met2158Val)
|
|
|
|
NM_001429.4(EP300):c.6509T>C (p.Met2170Thr)
|
|
|
|
NM_001429.4(EP300):c.6520A>G (p.Thr2174Ala)
|
rs5758252
|
|
|
NM_001429.4(EP300):c.6523A>G (p.Met2175Val)
|
|
|
|
NM_001429.4(EP300):c.6533A>G (p.Gln2178Arg)
|
|
|
|
NM_001429.4(EP300):c.6599G>C (p.Gly2200Ala)
|
|
|
|
NM_001429.4(EP300):c.6667C>A (p.Gln2223Lys)
|
|
|
|
NM_001429.4(EP300):c.6680T>C (p.Met2227Thr)
|
|
|
|
NM_001429.4(EP300):c.6707A>G (p.Gln2236Arg)
|
|
|
|
NM_001429.4(EP300):c.6747G>C (p.Leu2249Phe)
|
|
|
|
NM_001429.4(EP300):c.6749G>T (p.Gly2250Val)
|
|
|
|
NM_001429.4(EP300):c.6782A>G (p.Gln2261Arg)
|
|
|
|
NM_001429.4(EP300):c.6805A>T (p.Met2269Leu)
|
|
|
|
NM_001429.4(EP300):c.6896T>A (p.Ile2299Asn)
|
|
|
|
NM_001429.4(EP300):c.6973_6975dup (p.Ser2326_Pro2327insSer)
|
|
|
|
NM_001429.4(EP300):c.6988A>G (p.Arg2330Gly)
|
|
|
|
NM_001429.4(EP300):c.7054G>A (p.Val2352Ile)
|
|
|
|
NM_001429.4(EP300):c.7064A>G (p.Gln2355Arg)
|
|
|
|
NM_001429.4(EP300):c.706T>A (p.Leu236Met)
|
|
|
|
NM_001429.4(EP300):c.7070_7096dup (p.Asn2357_Ala2365dup)
|
rs2059220245
|
|
|
NM_001429.4(EP300):c.7109A>G (p.Asn2370Ser)
|
|
|
|
NM_001429.4(EP300):c.7121C>T (p.Ser2374Phe)
|
|
|
|
NM_001429.4(EP300):c.7131dup (p.Ser2378Ter)
|
|
|
|
NM_001429.4(EP300):c.7135A>G (p.Asn2379Asp)
|
|
|
|
NM_001429.4(EP300):c.7138C>T (p.Pro2380Ser)
|
|
|
|
NM_001429.4(EP300):c.7153C>T (p.Leu2385Phe)
|
rs752065194
|
|
|
NM_001429.4(EP300):c.7183C>G (p.Leu2395Val)
|
|
|
|
NM_001429.4(EP300):c.7186A>C (p.Ser2396Arg)
|
|
|
|
NM_001429.4(EP300):c.7189A>C (p.Thr2397Pro)
|
|
|
|
NM_001429.4(EP300):c.721C>T (p.Pro241Ser)
|
|
|
|
NM_001429.4(EP300):c.7241_7242dup (p.Ter2415ThrextTer?)
|
rs1329239009
|
|
|
NM_001429.4(EP300):c.734G>A (p.Gly245Glu)
|
|
|
|
NM_001429.4(EP300):c.742A>C (p.Asn248His)
|
|
|
|
NM_001429.4(EP300):c.746A>T (p.Asn249Ile)
|
rs200732771
|
|
|
NM_001429.4(EP300):c.887G>T (p.Gly296Val)
|
|
|
|
NM_001429.4(EP300):c.88G>A (p.Gly30Ser)
|
|
|
|
NM_001429.4(EP300):c.898C>T (p.Pro300Ser)
|
|
|
|
NM_001429.4(EP300):c.901A>G (p.Asn301Asp)
|
|
|
|
NM_001429.4(EP300):c.941G>A (p.Gly314Asp)
|
|
|
|
NM_001429.4(EP300):c.95-3T>C
|
|
|
|
NM_001429.4(EP300):c.952C>T (p.Pro318Ser)
|
|
|
|
NM_001429.4(EP300):c.991G>A (p.Asp331Asn)
|
|
|
|
NM_001429.4(EP300):c.9G>T (p.Glu3Asp)
|
|
|
|
NM_001999.4(FBN2):c.1007A>G (p.Asn336Ser)
|
rs1752993803
|
|
|
NM_001999.4(FBN2):c.1012G>T (p.Val338Leu)
|
|
|
|
NM_001999.4(FBN2):c.1030G>T (p.Val344Phe)
|
|
|
|
NM_001999.4(FBN2):c.104C>T (p.Pro35Leu)
|
rs2112810970
|
|
|
NM_001999.4(FBN2):c.1061A>T (p.Asp354Val)
|
|
|
|
NM_001999.4(FBN2):c.1069C>T (p.Arg357Ter)
|
rs1752991946
|
|
|
NM_001999.4(FBN2):c.1072T>C (p.Cys358Arg)
|
|
|
|
NM_001999.4(FBN2):c.1075A>G (p.Ile359Val)
|
|
|
|
NM_001999.4(FBN2):c.1078+5G>A
|
rs1752991507
|
|
|
NM_001999.4(FBN2):c.1078G>C (p.Asp360His)
|
|
|
|
NM_001999.4(FBN2):c.107A>G (p.Lys36Arg)
|
|
|
|
NM_001999.4(FBN2):c.1107C>T (p.Gly369=)
|
rs1060503505
|
|
|
NM_001999.4(FBN2):c.112C>T (p.Pro38Ser)
|
|
|
|
NM_001999.4(FBN2):c.1145G>C (p.Arg382Thr)
|
|
|
|
NM_001999.4(FBN2):c.1156A>G (p.Met386Val)
|
|
|
|
NM_001999.4(FBN2):c.116_130dup (p.Pro43_Pro44insArgProGlnProPro)
|
|
|
|
NM_001999.4(FBN2):c.117del (p.Gln41fs)
|
|
|
|
NM_001999.4(FBN2):c.1189G>A (p.Gly397Ser)
|
|
|
|
NM_001999.4(FBN2):c.118C>T (p.Pro40Ser)
|
rs2112810915
|
|
|
NM_001999.4(FBN2):c.1194C>A (p.Ile398=)
|
|
|
|
NM_001999.4(FBN2):c.1209dup (p.Ala404fs)
|
rs1752614082
|
|
|
NM_001999.4(FBN2):c.1278T>G (p.Ile426Met)
|
rs1752569770
|
|
|
NM_001999.4(FBN2):c.1280C>T (p.Pro427Leu)
|
|
|
|
NM_001999.4(FBN2):c.1288G>T (p.Ala430Ser)
|
|
|
|
NM_001999.4(FBN2):c.1316del (p.Gly439fs)
|
|
|
|
NM_001999.4(FBN2):c.1330C>G (p.Pro444Ala)
|
|
|
|
NM_001999.4(FBN2):c.1340A>G (p.Asn447Ser)
|
rs1554066013
|
|
|
NM_001999.4(FBN2):c.134A>T (p.Gln45Leu)
|
rs774411616
|
|
|
NM_001999.4(FBN2):c.1351_1356del (p.Tyr451_Gly452del)
|
rs730880109
|
|
|
NM_001999.4(FBN2):c.1364G>C (p.Gly455Ala)
|
|
|
|
NM_001999.4(FBN2):c.1382T>A (p.Ile461Asn)
|
|
|
|
NM_001999.4(FBN2):c.1421C>G (p.Ala474Gly)
|
|
|
|
NM_001999.4(FBN2):c.1439G>A (p.Gly480Glu)
|
|
|
|
NM_001999.4(FBN2):c.1443G>C (p.Gln481His)
|
rs923812426
|
|
|
NM_001999.4(FBN2):c.1456A>T (p.Thr486Ser)
|
|
|
|
NM_001999.4(FBN2):c.1489A>G (p.Ile497Val)
|
|
|
|
NM_001999.4(FBN2):c.1490T>C (p.Ile497Thr)
|
|
|
|
NM_001999.4(FBN2):c.1491C>G (p.Ile497Met)
|
rs1158937805
|
|
|
NM_001999.4(FBN2):c.1500T>G (p.His500Gln)
|
|
|
|
NM_001999.4(FBN2):c.152C>G (p.Thr51Arg)
|
rs1060503509
|
|
|
NM_001999.4(FBN2):c.1567A>G (p.Met523Val)
|
|
|
|
NM_001999.4(FBN2):c.1586C>A (p.Ala529Glu)
|
|
|
|
NM_001999.4(FBN2):c.1600A>G (p.Ile534Val)
|
rs1752527949
|
|
|
NM_001999.4(FBN2):c.1601T>C (p.Ile534Thr)
|
rs762032979
|
|
|
NM_001999.4(FBN2):c.1603+6T>C
|
rs1752527763
|
|
|
NM_001999.4(FBN2):c.1604-1G>A
|
|
|
|
NM_001999.4(FBN2):c.1612G>A (p.Glu538Lys)
|
rs1561427124
|
|
|
NM_001999.4(FBN2):c.1616G>T (p.Cys539Phe)
|
rs1456682417
|
|
|
NM_001999.4(FBN2):c.161C>T (p.Ser54Phe)
|
|
|
|
NM_001999.4(FBN2):c.1624A>G (p.Asn542Asp)
|
rs781622385
|
|
|
NM_001999.4(FBN2):c.1626T>A (p.Asn542Lys)
|
rs2126960231
|
|
|
NM_001999.4(FBN2):c.1637A>C (p.Asn546Thr)
|
|
|
|
NM_001999.4(FBN2):c.1642G>T (p.Asp548Tyr)
|
rs1581251809
|
|
|
NM_001999.4(FBN2):c.1658C>G (p.Pro553Arg)
|
rs2126960181
|
|
|
NM_001999.4(FBN2):c.1660G>C (p.Gly554Arg)
|
rs1283833434
|
|
|
NM_001999.4(FBN2):c.1681C>T (p.His561Tyr)
|
rs2126960142
|
|
|
NM_001999.4(FBN2):c.169G>T (p.Gly57Trp)
|
rs2112810796
|
|
|
NM_001999.4(FBN2):c.16A>T (p.Arg6Trp)
|
|
|
|
NM_001999.4(FBN2):c.1717T>C (p.Cys573Arg)
|
rs376737293
|
|
|
NM_001999.4(FBN2):c.1723+3A>G
|
rs2126960065
|
|
|
NM_001999.4(FBN2):c.1724-2A>G
|
rs876661172
|
|
|
NM_001999.4(FBN2):c.1729G>A (p.Asp577Asn)
|
rs1230736233
|
|
|
NM_001999.4(FBN2):c.1760A>G (p.Lys587Arg)
|
rs759733025
|
|
|
NM_001999.4(FBN2):c.1780A>G (p.Thr594Ala)
|
rs1554064868
|
|
|
NM_001999.4(FBN2):c.1784A>T (p.Asp595Val)
|
|
|
|
NM_001999.4(FBN2):c.1797G>T (p.Gln599His)
|
|
|
|
NM_001999.4(FBN2):c.1804del (p.Cys602fs)
|
rs886038824
|
|
|
NM_001999.4(FBN2):c.1814G>T (p.Gly605Val)
|
rs1581250994
|
|
|
NM_001999.4(FBN2):c.1831G>A (p.Asp611Asn)
|
|
|
|
NM_001999.4(FBN2):c.1844G>T (p.Cys615Phe)
|
rs1060503507
|
|
|
NM_001999.4(FBN2):c.1862G>A (p.Cys621Tyr)
|
rs1752093236
|
|
|
NM_001999.4(FBN2):c.1888G>A (p.Gly630Arg)
|
rs1060503499
|
|
|
NM_001999.4(FBN2):c.18G>T (p.Arg6Ser)
|
|
|
|
NM_001999.4(FBN2):c.1901A>G (p.Asn634Ser)
|
rs748715881
|
|
|
NM_001999.4(FBN2):c.193G>C (p.Glu65Gln)
|
rs1561504900
|
|
|
NM_001999.4(FBN2):c.1943T>C (p.Val648Ala)
|
|
|
|
NM_001999.4(FBN2):c.1988A>C (p.Gln663Pro)
|
rs863223556
|
|
|
NM_001999.4(FBN2):c.1991C>T (p.Thr664Ile)
|
rs2126954772
|
|
|
NM_001999.4(FBN2):c.2030A>G (p.Glu677Gly)
|
rs2126954710
|
|
|
NM_001999.4(FBN2):c.2034G>T (p.Gly678=)
|
rs1357250229
|
|
|
NM_001999.4(FBN2):c.2045G>A (p.Cys682Tyr)
|
rs1752034896
|
|
|
NM_001999.4(FBN2):c.2054C>T (p.Pro685Leu)
|
rs1581249148
|
|
|
NM_001999.4(FBN2):c.2056C>T (p.Pro686Ser)
|
rs1752034485
|
|
|
NM_001999.4(FBN2):c.2065_2066delinsAA (p.Ala689Asn)
|
rs869025430
|
|
|
NM_001999.4(FBN2):c.2066C>G (p.Ala689Gly)
|
rs781745158
|
|
|
NM_001999.4(FBN2):c.206C>T (p.Ala69Val)
|
rs1756883252
|
|
|
NM_001999.4(FBN2):c.2081G>C (p.Gly694Ala)
|
|
|
|
NM_001999.4(FBN2):c.2089T>C (p.Cys697Arg)
|
|
|
|
NM_001999.4(FBN2):c.208G>C (p.Val70Leu)
|
rs1756883199
|
|
|
NM_001999.4(FBN2):c.2092G>T (p.Val698Phe)
|
|
|
|
NM_001999.4(FBN2):c.2095+1G>A
|
|
|
|
NM_001999.4(FBN2):c.2095+2_2095+7del
|
rs1752033073
|
|
|
NM_001999.4(FBN2):c.2095+5G>A
|
rs2126954577
|
|
|
NM_001999.4(FBN2):c.2098A>G (p.Thr700Ala)
|
|
|
|
NM_001999.4(FBN2):c.209T>A (p.Val70Glu)
|
|
|
|
NM_001999.4(FBN2):c.2107C>T (p.Arg703Cys)
|
rs748861935
|
|
|
NM_001999.4(FBN2):c.2108G>T (p.Arg703Leu)
|
|
|
|
NM_001999.4(FBN2):c.212C>G (p.Ala71Gly)
|
|
|
|
NM_001999.4(FBN2):c.2132A>G (p.Lys711Arg)
|
rs1006288282
|
|
|
NM_001999.4(FBN2):c.2140G>A (p.Val714Met)
|
|
|
|
NM_001999.4(FBN2):c.2164G>T (p.Ala722Ser)
|
|
|
|
NM_001999.4(FBN2):c.2171C>T (p.Thr724Ile)
|
|
|
|
NM_001999.4(FBN2):c.2175G>C (p.Lys725Asn)
|
rs2126947449
|
|
|
NM_001999.4(FBN2):c.2227C>T (p.Pro743Ser)
|
rs1554064242
|
|
|
NM_001999.4(FBN2):c.2248+4G>A
|
rs752467521
|
|
|
NM_001999.4(FBN2):c.2260G>C (p.Gly754Arg)
|
rs145259927
|
|
|
NM_001999.4(FBN2):c.2303-2A>G
|
rs1751723379
|
|
|
NM_001999.4(FBN2):c.2326C>T (p.Pro776Ser)
|
|
|
|
NM_001999.4(FBN2):c.2329G>A (p.Asp777Asn)
|
|
|
|
NM_001999.4(FBN2):c.2334A>G (p.Ile778Met)
|
|
|
|
NM_001999.4(FBN2):c.2335T>C (p.Cys779Arg)
|
rs1751722668
|
|
|
NM_001999.4(FBN2):c.2356A>C (p.Asn786His)
|
|
|
|
NM_001999.4(FBN2):c.2365G>C (p.Gly789Arg)
|
rs886038969
|
|
|
NM_001999.4(FBN2):c.239A>G (p.Gln80Arg)
|
|
|
|
NM_001999.4(FBN2):c.2406T>A (p.Asp802Glu)
|
rs568169177
|
|
|
NM_001999.4(FBN2):c.2406T>G (p.Asp802Glu)
|
rs568169177
|
|
|
NM_001999.4(FBN2):c.2428+1G>T
|
rs1751719964
|
|
|
NM_001999.4(FBN2):c.2429-1G>A
|
rs1270553787
|
|
|
NM_001999.4(FBN2):c.2475G>T (p.Leu825Phe)
|
|
|
|
NM_001999.4(FBN2):c.2492G>A (p.Gly831Glu)
|
rs2126937089
|
|
|
NM_001999.4(FBN2):c.2506A>T (p.Thr836Ser)
|
|
|
|
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met)
|
rs957177447
|
|
|
NM_001999.4(FBN2):c.2515C>A (p.Pro839Thr)
|
rs751263399
|
|
|
NM_001999.4(FBN2):c.2530A>G (p.Arg844Gly)
|
|
|
|
NM_001999.4(FBN2):c.2539A>G (p.Thr847Ala)
|
rs878854474
|
|
|
NM_001999.4(FBN2):c.254+5G>A
|
|
|
|
NM_001999.4(FBN2):c.2554+5G>T
|
rs2126936993
|
|
|
NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu)
|
rs148598779
|
|
|
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val)
|
rs148598779
|
|
|
NM_001999.4(FBN2):c.256C>T (p.Pro86Ser)
|
|
|
|
NM_001999.4(FBN2):c.259A>G (p.Asn87Asp)
|
rs756569459
|
|
|
NM_001999.4(FBN2):c.2606A>C (p.Asn869Thr)
|
|
|
|
NM_001999.4(FBN2):c.2611G>C (p.Gly871Arg)
|
rs1751526889
|
|
|
NM_001999.4(FBN2):c.2615C>A (p.Ser872Tyr)
|
|
|
|
NM_001999.4(FBN2):c.262G>C (p.Val88Leu)
|
|
|
|
NM_001999.4(FBN2):c.2639G>A (p.Gly880Asp)
|
|
|
|
NM_001999.4(FBN2):c.2645A>G (p.Lys882Arg)
|
rs1168151418
|
|
|
NM_001999.4(FBN2):c.2648T>A (p.Leu883His)
|
|
|
|
NM_001999.4(FBN2):c.2674+6A>T
|
rs1381952326
|
|
|
NM_001999.4(FBN2):c.2676C>G (p.Asp892Glu)
|
|
|
|
NM_001999.4(FBN2):c.2701A>G (p.Asn901Asp)
|
|
|
|
NM_001999.4(FBN2):c.2725G>A (p.Val909Met)
|
|
|
|
NM_001999.4(FBN2):c.2735A>G (p.Asn912Ser)
|
|
|
|
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg)
|
rs111405756
|
|
|
NM_001999.4(FBN2):c.2773G>T (p.Gly925Ter)
|
rs111405756
|
|
|
NM_001999.4(FBN2):c.2779G>T (p.Ala927Ser)
|
rs863223559
|
|
|
NM_001999.4(FBN2):c.2782T>G (p.Trp928Gly)
|
|
|
|
NM_001999.4(FBN2):c.2791C>T (p.Pro931Ser)
|
rs779579749
|
|
|
NM_001999.4(FBN2):c.2800C>T (p.Arg934Trp)
|
|
|
|
NM_001999.4(FBN2):c.2809C>G (p.Leu937Val)
|
|
|
|
NM_001999.4(FBN2):c.2813A>G (p.Asp938Gly)
|
|
|
|
NM_001999.4(FBN2):c.2819C>T (p.Ala940Val)
|
rs1751304507
|
|
|
NM_001999.4(FBN2):c.2822G>A (p.Cys941Tyr)
|
|
|
|
NM_001999.4(FBN2):c.2825C>G (p.Pro942Arg)
|
rs1751304438
|
|
|
NM_001999.4(FBN2):c.2827A>G (p.Arg943Gly)
|
rs863223560
|
|
|
NM_001999.4(FBN2):c.2839A>G (p.Arg947Gly)
|
|
|
|
NM_001999.4(FBN2):c.2855C>G (p.Thr952Arg)
|
rs766590294
|
|
|
NM_001999.4(FBN2):c.2863+13T>G
|
|
|
|
NM_001999.4(FBN2):c.2863+19G>A
|
|
|
|
NM_001999.4(FBN2):c.2863+5G>A
|
|
|
|
NM_001999.4(FBN2):c.286T>C (p.Tyr96His)
|
|
|
|
NM_001999.4(FBN2):c.2879A>G (p.Glu960Gly)
|
|
|
|
NM_001999.4(FBN2):c.2882T>A (p.Val961Glu)
|
rs1025184275
|
|
|
NM_001999.4(FBN2):c.2890G>T (p.Gly964Cys)
|
rs2126919911
|
|
|
NM_001999.4(FBN2):c.2891G>A (p.Gly964Asp)
|
rs1554124089
|
|
|
NM_001999.4(FBN2):c.2921_2989+510delinsCATA
|
|
|
|
NM_001999.4(FBN2):c.2926G>A (p.Gly976Arg)
|
rs1751283602
|
|
|
NM_001999.4(FBN2):c.2945G>A (p.Cys982Tyr)
|
rs1057519321
|
|
|
NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe)
|
rs1057519321
|
|
|
NM_001999.4(FBN2):c.2957T>C (p.Leu986Pro)
|
rs1751282501
|
|
|
NM_001999.4(FBN2):c.295C>G (p.Pro99Ala)
|
rs1756849074
|
|
|
NM_001999.4(FBN2):c.2968G>A (p.Gly990Arg)
|
rs749854367
|
|
|
NM_001999.4(FBN2):c.2996G>A (p.Arg999His)
|
rs1342942240
|
|
|
NM_001999.4(FBN2):c.3003G>C (p.Glu1001Asp)
|
rs1064797312
|
|
|
NM_001999.4(FBN2):c.3010T>C (p.Tyr1004His)
|
|
|
|
NM_001999.4(FBN2):c.3019T>C (p.Trp1007Arg)
|
|
|
|
NM_001999.4(FBN2):c.3039C>G (p.Ile1013Met)
|
rs1388119592
|
|
|
NM_001999.4(FBN2):c.3046G>T (p.Val1016Phe)
|
|
|
|
NM_001999.4(FBN2):c.3049C>A (p.Pro1017Thr)
|
rs375187779
|
|
|
NM_001999.4(FBN2):c.3057G>C (p.Lys1019Asn)
|
rs863223561
|
|
|
NM_001999.4(FBN2):c.3058T>C (p.Phe1020Leu)
|
rs984782865
|
|
|
NM_001999.4(FBN2):c.305A>G (p.Lys102Arg)
|
rs1756848859
|
|
|
NM_001999.4(FBN2):c.3062G>C (p.Arg1021Pro)
|
rs139620380
|
|
|
NM_001999.4(FBN2):c.3066G>A (p.Met1022Ile)
|
rs952236163
|
|
|
NM_001999.4(FBN2):c.3092C>A (p.Ala1031Glu)
|
rs754884110
|
|
|
NM_001999.4(FBN2):c.3106G>C (p.Glu1036Gln)
|
rs773473369
|
|
|
NM_001999.4(FBN2):c.3107A>G (p.Glu1036Gly)
|
|
|
|
NM_001999.4(FBN2):c.311T>A (p.Leu104His)
|
|
|
|
NM_001999.4(FBN2):c.3126A>T (p.Lys1042Asn)
|
|
|
|
NM_001999.4(FBN2):c.3160C>T (p.Arg1054Cys)
|
rs869025427
|
|
|
NM_001999.4(FBN2):c.3196dup (p.Thr1066fs)
|
rs1554123702
|
|
|
NM_001999.4(FBN2):c.319G>A (p.Gly107Arg)
|
rs2112809157
|
|
|
NM_001999.4(FBN2):c.320G>A (p.Gly107Glu)
|
|
|
|
NM_001999.4(FBN2):c.3211T>C (p.Tyr1071His)
|
rs2126913738
|
|
|
NM_001999.4(FBN2):c.3215A>G (p.Lys1072Arg)
|
|
|
|
NM_001999.4(FBN2):c.3217+1G>A
|
rs2126913719
|
|
|
NM_001999.4(FBN2):c.3217+6T>C
|
|
|
|
NM_001999.4(FBN2):c.3218-5T>G
|
rs1554123647
|
|
|
NM_001999.4(FBN2):c.3220A>G (p.Ile1074Val)
|
rs1218249269
|
|
|
NM_001999.4(FBN2):c.3228A>C (p.Glu1076Asp)
|
rs1751116346
|
|
|
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu)
|
rs1751115198
|
|
|
NM_001999.4(FBN2):c.3290A>G (p.Lys1097Arg)
|
|
|
|
NM_001999.4(FBN2):c.3322A>G (p.Met1108Val)
|
rs148127874
|
|
|
NM_001999.4(FBN2):c.3331A>G (p.Arg1111Gly)
|
rs1751112929
|
|
|
NM_001999.4(FBN2):c.3335A>G (p.Asn1112Ser)
|
|
|
|
NM_001999.4(FBN2):c.3345C>G (p.Asp1115Glu)
|
|
|
|
NM_001999.4(FBN2):c.3346A>G (p.Ile1116Val)
|
|
|
|
NM_001999.4(FBN2):c.3351C>G (p.Asp1117Glu)
|
|
|
|
NM_001999.4(FBN2):c.336C>T (p.Val112=)
|
|
|
|
NM_001999.4(FBN2):c.338C>T (p.Pro113Leu)
|
|
|
|
NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser)
|
rs2126903780
|
|
|
NM_001999.4(FBN2):c.3413T>G (p.Phe1138Cys)
|
|
|
|
NM_001999.4(FBN2):c.3421G>A (p.Glu1141Lys)
|
|
|
|
NM_001999.4(FBN2):c.3428T>C (p.Phe1143Ser)
|
rs1750918793
|
|
|
NM_001999.4(FBN2):c.3441A>C (p.Glu1147Asp)
|
rs1750918059
|
|
|
NM_001999.4(FBN2):c.3446G>C (p.Gly1149Ala)
|
|
|
|
NM_001999.4(FBN2):c.3451A>G (p.Met1151Val)
|
rs1042256829
|
|
|
NM_001999.4(FBN2):c.3452T>C (p.Met1151Thr)
|
|
|
|
NM_001999.4(FBN2):c.3455T>C (p.Met1152Thr)
|
|
|
|
NM_001999.4(FBN2):c.3469A>G (p.Met1157Val)
|
rs876661190
|
|
|
NM_001999.4(FBN2):c.3472+3A>G
|
rs1750917005
|
|
|
NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys)
|
rs886039059
|
|
|
NM_001999.4(FBN2):c.3491G>T (p.Arg1164Leu)
|
|
|
|
NM_001999.4(FBN2):c.349_352del (p.Asn117fs)
|
|
|
|
NM_001999.4(FBN2):c.350A>G (p.Asn117Ser)
|
rs1756677980
|
|
|
NM_001999.4(FBN2):c.3515G>A (p.Gly1172Asp)
|
rs931046977
|
|
|
NM_001999.4(FBN2):c.3584G>C (p.Arg1195Pro)
|
|
|
|
NM_001999.4(FBN2):c.3597G>C (p.Val1199=)
|
|
|
|
NM_001999.4(FBN2):c.3614C>A (p.Ser1205Tyr)
|
rs1389689622
|
|
|
NM_001999.4(FBN2):c.3617T>C (p.Leu1206Pro)
|
rs1581224796
|
|
|
NM_001999.4(FBN2):c.3654C>G (p.Asn1218Lys)
|
|
|
|
NM_001999.4(FBN2):c.3668A>G (p.Tyr1223Cys)
|
|
|
|
NM_001999.4(FBN2):c.3689G>C (p.Gly1230Ala)
|
rs1047464870
|
|
|
NM_001999.4(FBN2):c.3713A>T (p.Gln1238Leu)
|
|
|
|
NM_001999.4(FBN2):c.3715G>A (p.Gly1239Ser)
|
rs778784375
|
|
|
NM_001999.4(FBN2):c.3724G>A (p.Asp1242Asn)
|
|
|
|
NM_001999.4(FBN2):c.3725-3C>T
|
|
|
|
NM_001999.4(FBN2):c.3727A>G (p.Ile1243Val)
|
|
|
|
NM_001999.4(FBN2):c.3728T>C (p.Ile1243Thr)
|
rs1306804578
|
|
|
NM_001999.4(FBN2):c.3761A>G (p.Asp1254Gly)
|
rs1750812827
|
|
|
NM_001999.4(FBN2):c.3773C>G (p.Thr1258Arg)
|
|
|
|
NM_001999.4(FBN2):c.3776A>T (p.Asn1259Ile)
|
rs1554122848
|
|
|
NM_001999.4(FBN2):c.3790T>A (p.Tyr1264Asn)
|
|
|
|
NM_001999.4(FBN2):c.3815A>C (p.Tyr1272Ser)
|
|
|
|
NM_001999.4(FBN2):c.3830A>T (p.Asp1277Val)
|
|
|
|
NM_001999.4(FBN2):c.3835A>G (p.Arg1279Gly)
|
rs1561776564
|
|
|
NM_001999.4(FBN2):c.3847+5A>G
|
rs1444917250
|
|
|
NM_001999.4(FBN2):c.3869A>G (p.Asn1290Ser)
|
rs747182286
|
|
|
NM_001999.4(FBN2):c.3871C>A (p.Pro1291Thr)
|
|
|
|
NM_001999.4(FBN2):c.3889G>T (p.Gly1297Cys)
|
rs755489065
|
|
|
NM_001999.4(FBN2):c.3960G>T (p.Met1320Ile)
|
rs1554122803
|
|
|
NM_001999.4(FBN2):c.3974-3T>A
|
|
|
|
NM_001999.4(FBN2):c.3974-7T>G
|
|
|
|
NM_001999.4(FBN2):c.3974-9A>G
|
|
|
|
NM_001999.4(FBN2):c.3982G>A (p.Glu1328Lys)
|
|
|
|
NM_001999.4(FBN2):c.3984A>T (p.Glu1328Asp)
|
rs1394998823
|
|
|
NM_001999.4(FBN2):c.4035G>C (p.Lys1345Asn)
|
|
|
|
NM_001999.4(FBN2):c.4040C>T (p.Ser1347Phe)
|
|
|
|
NM_001999.4(FBN2):c.4042T>C (p.Phe1348Leu)
|
|
|
|
NM_001999.4(FBN2):c.4053C>G (p.His1351Gln)
|
|
|
|
NM_001999.4(FBN2):c.4064G>A (p.Gly1355Asp)
|
|
|
|
NM_001999.4(FBN2):c.4090G>C (p.Gly1364Arg)
|
rs1750789808
|
|
|
NM_001999.4(FBN2):c.4118T>C (p.Ile1373Thr)
|
rs971727405
|
|
|
NM_001999.4(FBN2):c.4127A>G (p.His1376Arg)
|
rs1255550274
|
|
|
NM_001999.4(FBN2):c.4135G>C (p.Asp1379His)
|
|
|
|
NM_001999.4(FBN2):c.4198A>G (p.Ile1400Val)
|
rs1750732608
|
|
|
NM_001999.4(FBN2):c.4201G>A (p.Gly1401Arg)
|
rs1554122552
|
|
|
NM_001999.4(FBN2):c.4201G>C (p.Gly1401Arg)
|
rs1554122552
|
|
|
NM_001999.4(FBN2):c.4230C>A (p.Asp1410Glu)
|
|
|
|
NM_001999.4(FBN2):c.4231G>A (p.Glu1411Lys)
|
rs866719857
|
|
|
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val)
|
rs2126889179
|
|
|
NM_001999.4(FBN2):c.4247C>A (p.Thr1416Asn)
|
rs1750669779
|
|
|
NM_001999.4(FBN2):c.4247C>T (p.Thr1416Ile)
|
rs1750669779
|
|
|
NM_001999.4(FBN2):c.425G>C (p.Gly142Ala)
|
rs1060503506
|
|
|
NM_001999.4(FBN2):c.4261A>C (p.Ile1421Leu)
|
rs863223607
|
|
|
NM_001999.4(FBN2):c.4268C>T (p.Ala1423Val)
|
|
|
|
NM_001999.4(FBN2):c.4289G>A (p.Gly1430Asp)
|
|
|
|
NM_001999.4(FBN2):c.4292C>T (p.Ser1431Leu)
|
|
|
|
NM_001999.4(FBN2):c.4303G>T (p.Ala1435Ser)
|
|
|
|
NM_001999.4(FBN2):c.4322C>T (p.Thr1441Ile)
|
rs1750666696
|
|
|
NM_001999.4(FBN2):c.434C>A (p.Ser145Ter)
|
|
|
|
NM_001999.4(FBN2):c.435A>G (p.Ser145=)
|
|
|
|
NM_001999.4(FBN2):c.436+4T>G
|
|
|
|
NM_001999.4(FBN2):c.4360G>A (p.Ala1454Thr)
|
|
|
|
NM_001999.4(FBN2):c.437-1G>A
|
rs1180913191
|
|
|
NM_001999.4(FBN2):c.4382A>G (p.Glu1461Gly)
|
rs1750620648
|
|
|
NM_001999.4(FBN2):c.4390C>G (p.Gln1464Glu)
|
rs1750620267
|
|
|
NM_001999.4(FBN2):c.4444C>G (p.Pro1482Ala)
|
|
|
|
NM_001999.4(FBN2):c.4471+6T>G
|
|
|
|
NM_001999.4(FBN2):c.4472-2A>G
|
rs1554121102
|
|
|
NM_001999.4(FBN2):c.4472-3C>T
|
|
|
|
NM_001999.4(FBN2):c.4487C>T (p.Ser1496Phe)
|
|
|
|
NM_001999.4(FBN2):c.449G>T (p.Ser150Ile)
|
rs779482726
|
|
|
NM_001999.4(FBN2):c.4513A>G (p.Thr1505Ala)
|
rs1581212696
|
|
|
NM_001999.4(FBN2):c.4571A>G (p.Asp1524Gly)
|
|
|
|
NM_001999.4(FBN2):c.4577C>G (p.Thr1526Arg)
|
rs2126854542
|
|
|
NM_001999.4(FBN2):c.4594+3A>G
|
|
|
|
NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn)
|
rs863223574
|
|
|
NM_001999.4(FBN2):c.4627G>A (p.Val1543Ile)
|
rs1554121038
|
|
|
NM_001999.4(FBN2):c.4649C>T (p.Thr1550Met)
|
|
|
|
NM_001999.4(FBN2):c.4657C>G (p.Arg1553Gly)
|
|
|
|
NM_001999.4(FBN2):c.4658G>C (p.Arg1553Pro)
|
|
|
|
NM_001999.4(FBN2):c.4661A>T (p.Tyr1554Phe)
|
|
|
|
NM_001999.4(FBN2):c.4696C>A (p.Pro1566Thr)
|
|
|
|
NM_001999.4(FBN2):c.4709G>C (p.Gly1570Ala)
|
|
|
|
NM_001999.4(FBN2):c.4709G>T (p.Gly1570Val)
|
|
|
|
NM_001999.4(FBN2):c.4714G>T (p.Val1572Phe)
|
rs535517270
|
|
|
NM_001999.4(FBN2):c.4717+8A>G
|
rs1750262267
|
|
|
NM_001999.4(FBN2):c.4727T>C (p.Val1576Ala)
|
rs1581208599
|
|
|
NM_001999.4(FBN2):c.4738T>C (p.Tyr1580His)
|
rs1060503508
|
|
|
NM_001999.4(FBN2):c.4748T>C (p.Phe1583Ser)
|
|
|
|
NM_001999.4(FBN2):c.4770T>G (p.Ser1590Arg)
|
rs1295579995
|
|
|
NM_001999.4(FBN2):c.4829T>C (p.Leu1610Pro)
|
rs886038891
|
|
|
NM_001999.4(FBN2):c.4835A>G (p.Lys1612Arg)
|
rs2126847622
|
|
|
NM_001999.4(FBN2):c.4838C>G (p.Ala1613Gly)
|
|
|
|
NM_001999.4(FBN2):c.4877G>A (p.Ser1626Asn)
|
|
|
|
NM_001999.4(FBN2):c.4877G>T (p.Ser1626Ile)
|
rs1403929477
|
|
|
NM_001999.4(FBN2):c.4879A>C (p.Thr1627Pro)
|
rs1561765113
|
|
|
NM_001999.4(FBN2):c.4884A>C (p.Glu1628Asp)
|
|
|
|
NM_001999.4(FBN2):c.4919G>T (p.Arg1640Ile)
|
|
|
|
NM_001999.4(FBN2):c.4924A>G (p.Asn1642Asp)
|
|
|
|
NM_001999.4(FBN2):c.4925A>G (p.Asn1642Ser)
|
|
|
|
NM_001999.4(FBN2):c.4928C>G (p.Pro1643Arg)
|
rs863223609
|
|
|
NM_001999.4(FBN2):c.4957G>A (p.Glu1653Lys)
|
|
|
|
NM_001999.4(FBN2):c.4959A>C (p.Glu1653Asp)
|
rs1554120359
|
|
|
NM_001999.4(FBN2):c.5037A>C (p.Gln1679His)
|
rs1554120349
|
|
|
NM_001999.4(FBN2):c.5045A>G (p.Tyr1682Cys)
|
rs769474473
|
|
|
NM_001999.4(FBN2):c.5050A>G (p.Ser1684Gly)
|
rs863223577
|
|
|
NM_001999.4(FBN2):c.5069G>A (p.Cys1690Tyr)
|
rs1554120340
|
|
|
NM_001999.4(FBN2):c.5073A>G (p.Glu1691=)
|
|
|
|
NM_001999.4(FBN2):c.5075A>G (p.Asp1692Gly)
|
|
|
|
NM_001999.4(FBN2):c.5078T>G (p.Ile1693Ser)
|
|
|
|
NM_001999.4(FBN2):c.5093C>T (p.Ala1698Val)
|
|
|
|
NM_001999.4(FBN2):c.5116G>C (p.Gly1706Arg)
|
|
|
|
NM_001999.4(FBN2):c.5119A>T (p.Thr1707Ser)
|
rs1749990667
|
|
|
NM_001999.4(FBN2):c.514G>A (p.Gly172Arg)
|
|
|
|
NM_001999.4(FBN2):c.5150G>T (p.Cys1717Phe)
|
rs1554120186
|
|
|
NM_001999.4(FBN2):c.5183G>T (p.Gly1728Val)
|
|
|
|
NM_001999.4(FBN2):c.5200+5_5200+10del
|
|
|
|
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg)
|
rs886038942
|
|
|
NM_001999.4(FBN2):c.5240C>G (p.Thr1747Ser)
|
|
|
|
NM_001999.4(FBN2):c.5242A>G (p.Thr1748Ala)
|
|
|
|
NM_001999.4(FBN2):c.5279G>C (p.Arg1760Thr)
|
rs748580764
|
|
|
NM_001999.4(FBN2):c.5283G>T (p.Met1761Ile)
|
rs2126842957
|
|
|
NM_001999.4(FBN2):c.5312C>T (p.Ala1771Val)
|
rs2126842904
|
|
|
NM_001999.4(FBN2):c.531A>G (p.Gln177=)
|
rs863223544
|
|
|
NM_001999.4(FBN2):c.532+1G>A
|
|
|
|
NM_001999.4(FBN2):c.533-11T>A
|
|
|
|
NM_001999.4(FBN2):c.5332C>A (p.Pro1778Thr)
|
|
|
|
NM_001999.4(FBN2):c.5339C>G (p.Pro1780Arg)
|
|
|
|
NM_001999.4(FBN2):c.5344C>T (p.Pro1782Ser)
|
rs1554120093
|
|
|
NM_001999.4(FBN2):c.535G>C (p.Val179Leu)
|
|
|
|
NM_001999.4(FBN2):c.5401A>G (p.Ile1801Val)
|
|
|
|
NM_001999.4(FBN2):c.5420T>C (p.Val1807Ala)
|
|
|
|
NM_001999.4(FBN2):c.5423-17A>G
|
rs2126839337
|
|
|
NM_001999.4(FBN2):c.5423-1G>C
|
|
|
|
NM_001999.4(FBN2):c.5429A>G (p.Asp1810Gly)
|
rs1749861614
|
|
|
NM_001999.4(FBN2):c.5443A>T (p.Ile1815Phe)
|
|
|
|
NM_001999.4(FBN2):c.5446C>G (p.Pro1816Ala)
|
rs1561760487
|
|
|
NM_001999.4(FBN2):c.5450G>T (p.Gly1817Val)
|
|
|
|
NM_001999.4(FBN2):c.5462A>G (p.Asn1821Ser)
|
|
|
|
NM_001999.4(FBN2):c.5484T>G (p.Ile1828Met)
|
|
|
|
NM_001999.4(FBN2):c.5493C>G (p.Phe1831Leu)
|
|
|
|
NM_001999.4(FBN2):c.5534T>G (p.Leu1845Arg)
|
rs1749856162
|
|
|
NM_001999.4(FBN2):c.5548G>A (p.Asp1850Asn)
|
|
|
|
NM_001999.4(FBN2):c.5552T>C (p.Ile1851Thr)
|
|
|
|
NM_001999.4(FBN2):c.5552T>G (p.Ile1851Arg)
|
|
|
|
NM_001999.4(FBN2):c.5555A>G (p.Asp1852Gly)
|
rs1749848470
|
|
|
NM_001999.4(FBN2):c.5555A>T (p.Asp1852Val)
|
|
|
|
NM_001999.4(FBN2):c.5568T>A (p.Asn1856Lys)
|
rs1201284691
|
|
|
NM_001999.4(FBN2):c.5569G>A (p.Gly1857Ser)
|
rs2126838900
|
|
|
NM_001999.4(FBN2):c.5579T>C (p.Leu1860Pro)
|
|
|
|
NM_001999.4(FBN2):c.5588G>A (p.Arg1863Gln)
|
rs1447600676
|
|
|
NM_001999.4(FBN2):c.5596G>A (p.Asp1866Asn)
|
|
|
|
NM_001999.4(FBN2):c.5597A>G (p.Asp1866Gly)
|
|
|
|
NM_001999.4(FBN2):c.55G>A (p.Val19Met)
|
rs1357709072
|
|
|
NM_001999.4(FBN2):c.5606A>G (p.Asn1869Ser)
|
rs1749845932
|
|
|
NM_001999.4(FBN2):c.5617A>C (p.Ser1873Arg)
|
rs1060503504
|
|
|
NM_001999.4(FBN2):c.5632T>C (p.Cys1878Arg)
|
rs1248957106
|
|
|
NM_001999.4(FBN2):c.5674+4A>G
|
rs778011355
|
|
|
NM_001999.4(FBN2):c.5690T>C (p.Leu1897Ser)
|
|
|
|
NM_001999.4(FBN2):c.5692G>C (p.Glu1898Gln)
|
rs767932789
|
|
|
NM_001999.4(FBN2):c.5704G>T (p.Val1902Phe)
|
|
|
|
NM_001999.4(FBN2):c.5741G>A (p.Ser1914Asn)
|
|
|
|
NM_001999.4(FBN2):c.5750G>A (p.Cys1917Tyr)
|
|
|
|
NM_001999.4(FBN2):c.5780A>C (p.Gln1927Pro)
|
|
|
|
NM_001999.4(FBN2):c.5789C>A (p.Thr1930Asn)
|
|
|
|
NM_001999.4(FBN2):c.578C>T (p.Pro193Leu)
|
|
|
|
NM_001999.4(FBN2):c.5800+6A>T
|
rs2126838039
|
|
|
NM_001999.4(FBN2):c.5804_5806del (p.Val1935del)
|
rs1554119538
|
|
|
NM_001999.4(FBN2):c.583C>T (p.Arg195Cys)
|
rs1561495424
|
|
|
NM_001999.4(FBN2):c.5899C>G (p.His1967Asp)
|
|
|
|
NM_001999.4(FBN2):c.5910T>G (p.Asp1970Glu)
|
rs1749761553
|
|
|
NM_001999.4(FBN2):c.5921_5922delinsCG (p.Ile1974Thr)
|
rs1749718755
|
|
|
NM_001999.4(FBN2):c.5945G>A (p.Gly1982Asp)
|
rs1561757902
|
|
|
NM_001999.4(FBN2):c.5978A>G (p.Glu1993Gly)
|
rs1749717138
|
|
|
NM_001999.4(FBN2):c.5990T>C (p.Phe1997Ser)
|
rs754066538
|
|
|
NM_001999.4(FBN2):c.5998C>A (p.Leu2000Ile)
|
|
|
|
NM_001999.4(FBN2):c.6016G>A (p.Glu2006Lys)
|
|
|
|
NM_001999.4(FBN2):c.6026C>T (p.Pro2009Leu)
|
|
|
|
NM_001999.4(FBN2):c.6030T>A (p.Asp2010Glu)
|
rs776937649
|
|
|
NM_001999.4(FBN2):c.6031G>A (p.Gly2011Ser)
|
|
|
|
NM_001999.4(FBN2):c.6043A>G (p.Ile2015Val)
|
rs1202188687
|
|
|
NM_001999.4(FBN2):c.6045A>G (p.Ile2015Met)
|
rs770585421
|
|
|
NM_001999.4(FBN2):c.6046+2T>C
|
rs1581200259
|
|
|
NM_001999.4(FBN2):c.6046G>C (p.Asp2016His)
|
rs1749711886
|
|
|
NM_001999.4(FBN2):c.6053A>G (p.Asn2018Ser)
|
|
|
|
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys)
|
rs1554119321
|
|
|
NM_001999.4(FBN2):c.6056A>G (p.Glu2019Gly)
|
rs1749697561
|
|
|
NM_001999.4(FBN2):c.6089G>T (p.Gly2030Val)
|
|
|
|
NM_001999.4(FBN2):c.6118A>G (p.Arg2040Gly)
|
rs886038814
|
|
|
NM_001999.4(FBN2):c.6131C>T (p.Pro2044Leu)
|
|
|
|
NM_001999.4(FBN2):c.6160T>A (p.Cys2054Ser)
|
|
|
|
NM_001999.4(FBN2):c.6165T>G (p.Ile2055Met)
|
|
|
|
NM_001999.4(FBN2):c.6167-1G>C
|
|
|
|
NM_001999.4(FBN2):c.6167-3C>A
|
rs878854477
|
|
|
NM_001999.4(FBN2):c.6229G>A (p.Gly2077Arg)
|
|
|
|
NM_001999.4(FBN2):c.6233G>C (p.Gly2078Ala)
|
rs753305406
|
|
|
NM_001999.4(FBN2):c.6254C>G (p.Pro2085Arg)
|
rs2126822046
|
|
|
NM_001999.4(FBN2):c.6269C>G (p.Ser2090Cys)
|
|
|
|
NM_001999.4(FBN2):c.6269C>T (p.Ser2090Phe)
|
rs878854478
|
|
|
NM_001999.4(FBN2):c.6277G>A (p.Gly2093Arg)
|
|
|
|
NM_001999.4(FBN2):c.628+3A>G
|
|
|
|
NM_001999.4(FBN2):c.628+4A>C
|
|
|
|
NM_001999.4(FBN2):c.629-3C>G
|
rs376491648
|
|
|
NM_001999.4(FBN2):c.6292+6A>G
|
|
|
|
NM_001999.4(FBN2):c.6299G>A (p.Arg2100His)
|
rs746758405
|
|
|
NM_001999.4(FBN2):c.6349A>G (p.Lys2117Glu)
|
rs2126821327
|
|
|
NM_001999.4(FBN2):c.6353C>T (p.Ala2118Val)
|
|
|
|
NM_001999.4(FBN2):c.640G>A (p.Gly214Ser)
|
|
|
|
NM_001999.4(FBN2):c.6415C>T (p.Pro2139Ser)
|
rs1266965965
|
|
|
NM_001999.4(FBN2):c.6421G>A (p.Glu2141Lys)
|
|
|
|
NM_001999.4(FBN2):c.6445+3A>G
|
|
|
|
NM_001999.4(FBN2):c.6446T>G (p.Val2149Gly)
|
rs191065419
|
|
|
NM_001999.4(FBN2):c.6454C>T (p.Gln2152Ter)
|
|
|
|
NM_001999.4(FBN2):c.6511+4C>A
|
rs368610241
|
|
|
NM_001999.4(FBN2):c.6512-2A>G
|
rs863223580
|
|
|
NM_001999.4(FBN2):c.6512-2A>T
|
|
|
|
NM_001999.4(FBN2):c.6569C>G (p.Thr2190Ser)
|
rs1561750168
|
|
|
NM_001999.4(FBN2):c.6575G>C (p.Gly2192Ala)
|
|
|
|
NM_001999.4(FBN2):c.6619A>C (p.Thr2207Pro)
|
|
|
|
NM_001999.4(FBN2):c.6623G>A (p.Gly2208Glu)
|
rs200489152
|
|
|
NM_001999.4(FBN2):c.6625G>T (p.Val2209Leu)
|
|
|
|
NM_001999.4(FBN2):c.6663T>A (p.Asn2221Lys)
|
rs2126818692
|
|
|
NM_001999.4(FBN2):c.6748A>T (p.Asn2250Tyr)
|
|
|
|
NM_001999.4(FBN2):c.6757+2C>T
|
|
|
|
NM_001999.4(FBN2):c.6814T>G (p.Phe2272Val)
|
rs1749185390
|
|
|
NM_001999.4(FBN2):c.6832A>G (p.Thr2278Ala)
|
rs1060503500
|
|
|
NM_001999.4(FBN2):c.6856A>G (p.Arg2286Gly)
|
|
|
|
NM_001999.4(FBN2):c.6870G>C (p.Lys2290Asn)
|
|
|
|
NM_001999.4(FBN2):c.6873G>A (p.Met2291Ile)
|
rs1581189176
|
|
|
NM_001999.4(FBN2):c.6880+6G>A
|
|
|
|
NM_001999.4(FBN2):c.6880+6G>C
|
rs1271195305
|
|
|
NM_001999.4(FBN2):c.6881-1G>A
|
|
|
|
NM_001999.4(FBN2):c.6881-1G>T
|
|
|
|
NM_001999.4(FBN2):c.6898G>A (p.Glu2300Lys)
|
rs1419124277
|
|
|
NM_001999.4(FBN2):c.68C>A (p.Ala23Glu)
|
rs199560824
|
|
|
NM_001999.4(FBN2):c.6909C>A (p.His2303Gln)
|
|
|
|
NM_001999.4(FBN2):c.6911A>G (p.Asp2304Gly)
|
|
|
|
NM_001999.4(FBN2):c.6917A>G (p.Glu2306Gly)
|
|
|
|
NM_001999.4(FBN2):c.6975T>A (p.Pro2325=)
|
rs1274780641
|
|
|
NM_001999.4(FBN2):c.6977G>C (p.Gly2326Ala)
|
rs1554117875
|
|
|
NM_001999.4(FBN2):c.6985C>T (p.Arg2329Ter)
|
rs1287289593
|
|
|
NM_001999.4(FBN2):c.7011A>G (p.Val2337=)
|
rs2126816680
|
|
|
NM_001999.4(FBN2):c.7030A>T (p.Thr2344Ser)
|
|
|
|
NM_001999.4(FBN2):c.7052A>G (p.Asn2351Ser)
|
rs1581184433
|
|
|
NM_001999.4(FBN2):c.7055G>C (p.Gly2352Ala)
|
rs764330020
|
|
|
NM_001999.4(FBN2):c.7080C>A (p.Ser2360Arg)
|
|
|
|
NM_001999.4(FBN2):c.7109A>G (p.Gln2370Arg)
|
|
|
|
NM_001999.4(FBN2):c.7115G>C (p.Ser2372Thr)
|
|
|
|
NM_001999.4(FBN2):c.7118C>T (p.Ser2373Phe)
|
|
|
|
NM_001999.4(FBN2):c.7137T>C (p.Leu2379=)
|
|
|
|
NM_001999.4(FBN2):c.7139A>G (p.Asp2380Gly)
|
rs1765463264
|
|
|
NM_001999.4(FBN2):c.7163C>T (p.Ala2388Val)
|
rs754380350
|
|
|
NM_001999.4(FBN2):c.7168G>A (p.Val2390Ile)
|
rs768193630
|
|
|
NM_001999.4(FBN2):c.7169T>C (p.Val2390Ala)
|
|
|
|
NM_001999.4(FBN2):c.7184G>A (p.Cys2395Tyr)
|
|
|
|
NM_001999.4(FBN2):c.7192G>T (p.Ala2398Ser)
|
|
|
|
NM_001999.4(FBN2):c.7195T>G (p.Ser2399Ala)
|
|
|
|
NM_001999.4(FBN2):c.7200_7201delinsCC (p.Ser2401Arg)
|
|
|
|
NM_001999.4(FBN2):c.7205_7206delinsTT (p.Arg2402Leu)
|
|
|
|
NM_001999.4(FBN2):c.7241G>A (p.Gly2414Asp)
|
|
|
|
NM_001999.4(FBN2):c.7241G>T (p.Gly2414Val)
|
rs2126809569
|
|
|
NM_001999.4(FBN2):c.7250G>T (p.Gly2417Val)
|
rs886038938
|
|
|
NM_001999.4(FBN2):c.7259A>C (p.His2420Pro)
|
rs2126809547
|
|
|
NM_001999.4(FBN2):c.7273T>C (p.Cys2425Arg)
|
|
|
|
NM_001999.4(FBN2):c.7316A>G (p.His2439Arg)
|
|
|
|
NM_001999.4(FBN2):c.7345+6G>A
|
|
|
|
NM_001999.4(FBN2):c.7346-3C>T
|
rs1439389862
|
|
|
NM_001999.4(FBN2):c.7382C>T (p.Thr2461Ile)
|
rs1019541548
|
|
|
NM_001999.4(FBN2):c.7396A>C (p.Ile2466Leu)
|
|
|
|
NM_001999.4(FBN2):c.7429A>G (p.Lys2477Glu)
|
rs1765435966
|
|
|
NM_001999.4(FBN2):c.7433T>C (p.Val2478Ala)
|
|
|
|
NM_001999.4(FBN2):c.7444A>G (p.Thr2482Ala)
|
|
|
|
NM_001999.4(FBN2):c.7459A>G (p.Thr2487Ala)
|
rs2126808746
|
|
|
NM_001999.4(FBN2):c.7460C>T (p.Thr2487Ile)
|
|
|
|
NM_001999.4(FBN2):c.7475T>C (p.Leu2492Pro)
|
rs1056653104
|
|
|
NM_001999.4(FBN2):c.7477G>T (p.Asp2493Tyr)
|
rs779483120
|
|
|
NM_001999.4(FBN2):c.7487C>A (p.Ser2496Tyr)
|
|
|
|
NM_001999.4(FBN2):c.74G>A (p.Gly25Asp)
|
rs2112811070
|
|
|
NM_001999.4(FBN2):c.7521G>T (p.Lys2507Asn)
|
|
|
|
NM_001999.4(FBN2):c.7533G>T (p.Gly2511=)
|
rs1060503502
|
|
|
NM_001999.4(FBN2):c.7543T>G (p.Cys2515Gly)
|
|
|
|
NM_001999.4(FBN2):c.7571A>C (p.Gln2524Pro)
|
|
|
|
NM_001999.4(FBN2):c.7575G>T (p.Glu2525Asp)
|
|
|
|
NM_001999.4(FBN2):c.7577A>T (p.Asp2526Val)
|
rs768941456
|
|
|
NM_001999.4(FBN2):c.7582A>C (p.Lys2528Gln)
|
rs894902794
|
|
|
NM_001999.4(FBN2):c.7582A>G (p.Lys2528Glu)
|
|
|
|
NM_001999.4(FBN2):c.7588T>C (p.Cys2530Arg)
|
|
|
|
NM_001999.4(FBN2):c.7618C>T (p.Gln2540Ter)
|
rs1453328210
|
|
|
NM_001999.4(FBN2):c.761G>T (p.Cys254Phe)
|
rs755760127
|
|
|
NM_001999.4(FBN2):c.7626C>G (p.Asn2542Lys)
|
|
|
|
NM_001999.4(FBN2):c.7657G>T (p.Gly2553Trp)
|
|
|
|
NM_001999.4(FBN2):c.7658G>A (p.Gly2553Glu)
|
|
|
|
NM_001999.4(FBN2):c.7658G>T (p.Gly2553Val)
|
|
|
|
NM_001999.4(FBN2):c.7672T>G (p.Cys2558Gly)
|
rs863223589
|
|
|
NM_001999.4(FBN2):c.7679C>T (p.Pro2560Leu)
|
|
|
|
NM_001999.4(FBN2):c.7693C>T (p.His2565Tyr)
|
rs1765342729
|
|
|
NM_001999.4(FBN2):c.7727G>T (p.Gly2576Val)
|
rs572453085
|
|
|
NM_001999.4(FBN2):c.7744T>C (p.Cys2582Arg)
|
rs2126805299
|
|
|
NM_001999.4(FBN2):c.7757G>C (p.Gly2586Ala)
|
rs1447205905
|
|
|
NM_001999.4(FBN2):c.7822A>T (p.Thr2608Ser)
|
rs762538141
|
|
|
NM_001999.4(FBN2):c.7840+1G>A
|
|
|
|
NM_001999.4(FBN2):c.7841-3C>T
|
rs1554116417
|
|
|
NM_001999.4(FBN2):c.7859_7860delinsAA (p.Gly2620Glu)
|
rs1554116412
|
|
|
NM_001999.4(FBN2):c.7860G>T (p.Gly2620=)
|
rs772818240
|
|
|
NM_001999.4(FBN2):c.7868G>A (p.Arg2623Lys)
|
|
|
|
NM_001999.4(FBN2):c.7873C>T (p.Gln2625Ter)
|
rs1554116411
|
|
|
NM_001999.4(FBN2):c.7900G>A (p.Gly2634Ser)
|
|
|
|
NM_001999.4(FBN2):c.7918C>G (p.Pro2640Ala)
|
rs1060503512
|
|
|
NM_001999.4(FBN2):c.7959C>A (p.Val2653=)
|
rs773175830
|
|
|
NM_001999.4(FBN2):c.7960G>A (p.Asp2654Asn)
|
|
|
|
NM_001999.4(FBN2):c.7961A>G (p.Asp2654Gly)
|
|
|
|
NM_001999.4(FBN2):c.7975T>C (p.Ser2659Pro)
|
rs1765039937
|
|
|
NM_001999.4(FBN2):c.7994G>C (p.Gly2665Ala)
|
|
|
|
NM_001999.4(FBN2):c.799C>T (p.Pro267Ser)
|
rs1229950368
|
|
|
NM_001999.4(FBN2):c.8014A>G (p.Thr2672Ala)
|
|
|
|
NM_001999.4(FBN2):c.8033G>C (p.Cys2678Ser)
|
rs1765038866
|
|
|
NM_001999.4(FBN2):c.8042C>T (p.Pro2681Leu)
|
|
|
|
NM_001999.4(FBN2):c.8045_8046delinsTC (p.Ser2682Phe)
|
|
|
|
NM_001999.4(FBN2):c.8061C>G (p.Asp2687Glu)
|
rs749888746
|
|
|
NM_001999.4(FBN2):c.8061_8067delinsG (p.Asp2687_Phe2689delinsGlu)
|
rs863223597
|
|
|
NM_001999.4(FBN2):c.8078G>T (p.Cys2693Phe)
|
rs2126795619
|
|
|
NM_001999.4(FBN2):c.8080C>T (p.His2694Tyr)
|
rs1387382061
|
|
|
NM_001999.4(FBN2):c.8094G>C (p.Glu2698Asp)
|
rs1765035115
|
|
|
NM_001999.4(FBN2):c.8096G>A (p.Cys2699Tyr)
|
rs2126795584
|
|
|
NM_001999.4(FBN2):c.8098T>A (p.Ser2700Thr)
|
|
|
|
NM_001999.4(FBN2):c.8099C>G (p.Ser2700Trp)
|
rs776788539
|
|
|
NM_001999.4(FBN2):c.80C>A (p.Ala27Asp)
|
|
|
|
NM_001999.4(FBN2):c.80C>T (p.Ala27Val)
|
|
|
|
NM_001999.4(FBN2):c.8117G>A (p.Cys2706Tyr)
|
|
|
|
NM_001999.4(FBN2):c.8120A>G (p.Asn2707Ser)
|
rs1182788018
|
|
|
NM_001999.4(FBN2):c.812C>G (p.Thr271Ser)
|
rs1754660014
|
|
|
NM_001999.4(FBN2):c.8132C>G (p.Ser2711Cys)
|
rs758149534
|
|
|
NM_001999.4(FBN2):c.8139G>A (p.Thr2713=)
|
rs1057523293
|
|
|
NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg)
|
rs772569905
|
|
|
NM_001999.4(FBN2):c.8147G>T (p.Gly2716Val)
|
rs1561736199
|
|
|
NM_001999.4(FBN2):c.8191G>A (p.Gly2731Ser)
|
rs1765029329
|
|
|
NM_001999.4(FBN2):c.8192+6G>A
|
rs752575354
|
|
|
NM_001999.4(FBN2):c.8193C>T (p.Gly2731=)
|
|
|
|
NM_001999.4(FBN2):c.8241G>A (p.Leu2747=)
|
rs775766250
|
|
|
NM_001999.4(FBN2):c.824A>C (p.Gln275Pro)
|
|
|
|
NM_001999.4(FBN2):c.8261A>G (p.Glu2754Gly)
|
|
|
|
NM_001999.4(FBN2):c.8275C>G (p.Pro2759Ala)
|
rs1158966833
|
|
|
NM_001999.4(FBN2):c.8290G>A (p.Glu2764Lys)
|
|
|
|
NM_001999.4(FBN2):c.8297A>T (p.Lys2766Ile)
|
rs1764982741
|
|
|
NM_001999.4(FBN2):c.8315A>C (p.Lys2772Thr)
|
rs1308073420
|
|
|
NM_001999.4(FBN2):c.8323A>G (p.Ser2775Gly)
|
|
|
|
NM_001999.4(FBN2):c.8363C>T (p.Ala2788Val)
|
|
|
|
NM_001999.4(FBN2):c.8366T>C (p.Val2789Ala)
|
|
|
|
NM_001999.4(FBN2):c.8374A>G (p.Ile2792Val)
|
|
|
|
NM_001999.4(FBN2):c.8383G>A (p.Glu2795Lys)
|
|
|
|
NM_001999.4(FBN2):c.8396T>C (p.Met2799Thr)
|
|
|
|
NM_001999.4(FBN2):c.8413A>T (p.Met2805Leu)
|
|
|
|
NM_001999.4(FBN2):c.8414T>G (p.Met2805Arg)
|
|
|
|
NM_001999.4(FBN2):c.8425C>T (p.Leu2809Phe)
|
rs1764918027
|
|
|
NM_001999.4(FBN2):c.8435T>A (p.Leu2812His)
|
|
|
|
NM_001999.4(FBN2):c.844G>T (p.Ala282Ser)
|
|
|
|
NM_001999.4(FBN2):c.8454C>G (p.Ile2818Met)
|
rs2126791949
|
|
|
NM_001999.4(FBN2):c.8467C>A (p.Pro2823Thr)
|
|
|
|
NM_001999.4(FBN2):c.8478G>C (p.Gln2826His)
|
rs1161871936
|
|
|
NM_001999.4(FBN2):c.8501dup (p.Tyr2834Ter)
|
rs1060503503
|
|
|
NM_001999.4(FBN2):c.8506A>G (p.Ile2836Val)
|
rs1249852107
|
|
|
NM_001999.4(FBN2):c.8521G>A (p.Asp2841Asn)
|
|
|
|
NM_001999.4(FBN2):c.8527A>G (p.Ser2843Gly)
|
rs1764914190
|
|
|
NM_001999.4(FBN2):c.8528_8529delinsTT (p.Ser2843Ile)
|
rs2126791814
|
|
|
NM_001999.4(FBN2):c.8529C>A (p.Ser2843Arg)
|
|
|
|
NM_001999.4(FBN2):c.853G>C (p.Gly285Arg)
|
rs2127056896
|
|
|
NM_001999.4(FBN2):c.8606C>A (p.Thr2869Lys)
|
rs762956345
|
|
|
NM_001999.4(FBN2):c.8623A>G (p.Ile2875Val)
|
rs1554115164
|
|
|
NM_001999.4(FBN2):c.8635AAG[2] (p.Lys2881del)
|
|
|
|
NM_001999.4(FBN2):c.8666G>A (p.Ser2889Asn)
|
rs2126791602
|
|
|
NM_001999.4(FBN2):c.866G>A (p.Gly289Glu)
|
rs1754069364
|
|
|
NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys)
|
rs779659640
|
|
|
NM_001999.4(FBN2):c.8695C>G (p.Leu2899Val)
|
|
|
|
NM_001999.4(FBN2):c.8731C>A (p.Leu2911Ile)
|
rs887275019
|
|
|
NM_001999.4(FBN2):c.8737T>G (p.Ter2913Glu)
|
|
|
|
NM_001999.4(FBN2):c.875G>C (p.Cys292Ser)
|
|
|
|
NM_001999.4(FBN2):c.878T>C (p.Ile293Thr)
|
|
|
|
NM_001999.4(FBN2):c.905G>A (p.Arg302Lys)
|
|
|
|
NM_001999.4(FBN2):c.905G>C (p.Arg302Thr)
|
rs863223616
|
|
|
NM_001999.4(FBN2):c.906A>T (p.Arg302Ser)
|
rs1554069994
|
|
|
NM_001999.4(FBN2):c.924A>T (p.Lys308Asn)
|
|
|
|
NM_001999.4(FBN2):c.930T>A (p.Ser310Arg)
|
|
|
|
NM_001999.4(FBN2):c.93G>C (p.Gln31His)
|
rs371491169
|
|
|
NM_001999.4(FBN2):c.952+3G>T
|
rs1554069982
|
|
|
NM_001999.4(FBN2):c.991A>G (p.Thr331Ala)
|
|
|
|
NM_001999.4(FBN2):c.994G>A (p.Gly332Ser)
|
rs2127000101
|
|
|
NM_001999.4(FBN2):c.995G>T (p.Gly332Val)
|
|
|
|
NM_002334.4(LRP4):c.1009T>G (p.Cys337Gly)
|
|
|
|
NM_002334.4(LRP4):c.1060G>A (p.Gly354Ser)
|
|
|
|
NM_002334.4(LRP4):c.1076A>T (p.Asn359Ile)
|
|
|
|
NM_002334.4(LRP4):c.1097C>T (p.Ala366Val)
|
rs1941521066
|
|
|
NM_002334.4(LRP4):c.1110G>T (p.Gln370His)
|
|
|
|
NM_002334.4(LRP4):c.1112T>C (p.Met371Thr)
|
rs1164240481
|
|
|
NM_002334.4(LRP4):c.1118G>C (p.Arg373Pro)
|
|
|
|
NM_002334.4(LRP4):c.1126G>A (p.Val376Met)
|
rs1243051904
|
|
|
NM_002334.4(LRP4):c.1187T>A (p.Val396Glu)
|
rs2134851507
|
|
|
NM_002334.4(LRP4):c.1222G>A (p.Gly408Ser)
|
|
|
|
NM_002334.4(LRP4):c.1237G>A (p.Glu413Lys)
|
|
|
|
NM_002334.4(LRP4):c.1279C>T (p.Arg427Trp)
|
|
|
|
NM_002334.4(LRP4):c.1280G>A (p.Arg427Gln)
|
rs569764064
|
|
|
NM_002334.4(LRP4):c.1289G>A (p.Arg430Gln)
|
|
|
|
NM_002334.4(LRP4):c.1309+5G>C
|
|
|
|
NM_002334.4(LRP4):c.1310-3C>T
|
rs1941491191
|
|
|
NM_002334.4(LRP4):c.1333G>A (p.Ala445Thr)
|
rs1023257694
|
|
|
NM_002334.4(LRP4):c.1366C>T (p.His456Tyr)
|
rs1555174047
|
|
|
NM_002334.4(LRP4):c.1436G>A (p.Arg479His)
|
|
|
|
NM_002334.4(LRP4):c.1436G>T (p.Arg479Leu)
|
|
|
|
NM_002334.4(LRP4):c.143A>G (p.Gln48Arg)
|
|
|
|
NM_002334.4(LRP4):c.1487A>G (p.Asn496Ser)
|
rs746759136
|
|
|
NM_002334.4(LRP4):c.1488C>A (p.Asn496Lys)
|
rs779961860
|
|
|
NM_002334.4(LRP4):c.1490T>G (p.Leu497Arg)
|
|
|
|
NM_002334.4(LRP4):c.1535G>T (p.Ser512Ile)
|
rs769948678
|
|
|
NM_002334.4(LRP4):c.1540+3A>G
|
rs2134849214
|
|
|
NM_002334.4(LRP4):c.1560G>C (p.Trp520Cys)
|
|
|
|
NM_002334.4(LRP4):c.1623_1624inv (p.Gly542Arg)
|
|
|
|
NM_002334.4(LRP4):c.1627G>A (p.Ala543Thr)
|
|
|
|
NM_002334.4(LRP4):c.162C>G (p.Asp54Glu)
|
|
|
|
NM_002334.4(LRP4):c.1634G>A (p.Arg545Gln)
|
|
|
|
NM_002334.4(LRP4):c.1657C>G (p.Leu553Val)
|
rs751911145
|
|
|
NM_002334.4(LRP4):c.1670G>A (p.Arg557Gln)
|
|
|
|
NM_002334.4(LRP4):c.1698-9_1698-5del
|
rs1941399170
|
|
|
NM_002334.4(LRP4):c.1714G>A (p.Asp572Asn)
|
|
|
|
NM_002334.4(LRP4):c.1730C>T (p.Pro577Leu)
|
rs1941398250
|
|
|
NM_002334.4(LRP4):c.1733G>A (p.Arg578His)
|
|
|
|
NM_002334.4(LRP4):c.1760C>G (p.Ser587Cys)
|
|
|
|
NM_002334.4(LRP4):c.1765C>T (p.Arg589Cys)
|
|
|
|
NM_002334.4(LRP4):c.1834A>T (p.Met612Leu)
|
|
|
|
NM_002334.4(LRP4):c.184G>A (p.Asp62Asn)
|
|
|
|
NM_002334.4(LRP4):c.1855C>T (p.His619Tyr)
|
|
|
|
NM_002334.4(LRP4):c.1985G>A (p.Ser662Asn)
|
|
|
|
NM_002334.4(LRP4):c.1990A>G (p.Asn664Asp)
|
rs1190494235
|
|
|
NM_002334.4(LRP4):c.2026A>C (p.Ile676Leu)
|
|
|
|
NM_002334.4(LRP4):c.2032C>T (p.Arg678Cys)
|
|
|
|
NM_002334.4(LRP4):c.2070G>C (p.Leu690Phe)
|
rs2134837991
|
|
|
NM_002334.4(LRP4):c.2081G>A (p.Arg694His)
|
rs1406466481
|
|
|
NM_002334.4(LRP4):c.2090C>T (p.Ala697Val)
|
|
|
|
NM_002334.4(LRP4):c.2092+5A>G
|
|
|
|
NM_002334.4(LRP4):c.2113A>G (p.Asn705Asp)
|
|
|
|
NM_002334.4(LRP4):c.2113AAC[1] (p.Asn706del)
|
rs1565792675
|
|
|
NM_002334.4(LRP4):c.2119G>A (p.Gly707Arg)
|
rs1382055371
|
|
|
NM_002334.4(LRP4):c.2201A>C (p.His734Pro)
|
|
|
|
NM_002334.4(LRP4):c.2213A>C (p.Gln738Pro)
|
|
|
|
NM_002334.4(LRP4):c.2213A>G (p.Gln738Arg)
|
|
|
|
NM_002334.4(LRP4):c.2215+5G>A
|
rs1941370233
|
|
|
NM_002334.4(LRP4):c.2226G>C (p.Lys742Asn)
|
|
|
|
NM_002334.4(LRP4):c.2258G>A (p.Arg753His)
|
|
|
|
NM_002334.4(LRP4):c.2261G>A (p.Arg754Gln)
|
|
|
|
NM_002334.4(LRP4):c.229C>A (p.His77Asn)
|
|
|
|
NM_002334.4(LRP4):c.230A>G (p.His77Arg)
|
|
|
|
NM_002334.4(LRP4):c.2321G>A (p.Ser774Asn)
|
|
|
|
NM_002334.4(LRP4):c.2348G>A (p.Arg783Gln)
|
|
|
|
NM_002334.4(LRP4):c.2381C>T (p.Thr794Ile)
|
rs2134828263
|
|
|
NM_002334.4(LRP4):c.2387C>A (p.Thr796Asn)
|
rs753109967
|
|
|
NM_002334.4(LRP4):c.2531A>G (p.Asn844Ser)
|
rs2134821602
|
|
|
NM_002334.4(LRP4):c.2534C>T (p.Thr845Ile)
|
|
|
|
NM_002334.4(LRP4):c.2543G>C (p.Ser848Thr)
|
|
|
|
NM_002334.4(LRP4):c.2551A>G (p.Thr851Ala)
|
rs2134821502
|
|
|
NM_002334.4(LRP4):c.256C>T (p.Arg86Cys)
|
|
|
|
NM_002334.4(LRP4):c.2579G>A (p.Arg860His)
|
|
|
|
NM_002334.4(LRP4):c.2607G>C (p.Met869Ile)
|
rs1370824030
|
|
|
NM_002334.4(LRP4):c.2611G>A (p.Gly871Arg)
|
|
|
|
NM_002334.4(LRP4):c.2617A>G (p.Met873Val)
|
|
|
|
NM_002334.4(LRP4):c.2626A>C (p.Thr876Pro)
|
rs1592529316
|
|
|
NM_002334.4(LRP4):c.2735A>T (p.Tyr912Phe)
|
rs756941634
|
|
|
NM_002334.4(LRP4):c.274G>C (p.Gly92Arg)
|
|
|
|
NM_002334.4(LRP4):c.2758G>A (p.Ala920Thr)
|
rs1486508644
|
|
|
NM_002334.4(LRP4):c.2770A>G (p.Met924Val)
|
rs1247727700
|
|
|
NM_002334.4(LRP4):c.2774A>G (p.Lys925Arg)
|
|
|
|
NM_002334.4(LRP4):c.2786T>G (p.Phe929Cys)
|
|
|
|
NM_002334.4(LRP4):c.2815-11G>T
|
|
|
|
NM_002334.4(LRP4):c.2869C>T (p.Arg957Cys)
|
|
|
|
NM_002334.4(LRP4):c.2911G>A (p.Ala971Thr)
|
|
|
|
NM_002334.4(LRP4):c.2918G>A (p.Arg973Gln)
|
|
|
|
NM_002334.4(LRP4):c.2936G>A (p.Arg979Gln)
|
|
|
|
NM_002334.4(LRP4):c.2989C>T (p.Arg997Cys)
|
|
|
|
NM_002334.4(LRP4):c.2990G>A (p.Arg997His)
|
|
|
|
NM_002334.4(LRP4):c.2995C>T (p.Arg999Trp)
|
|
|
|
NM_002334.4(LRP4):c.2996G>A (p.Arg999Gln)
|
|
|
|
NM_002334.4(LRP4):c.3002C>G (p.Pro1001Arg)
|
|
|
|
NM_002334.4(LRP4):c.3020C>A (p.Ala1007Asp)
|
rs2134807106
|
|
|
NM_002334.4(LRP4):c.3022A>G (p.Met1008Val)
|
rs886048352
|
|
|
NM_002334.4(LRP4):c.3049T>C (p.Cys1017Arg)
|
rs2134807022
|
|
|
NM_002334.4(LRP4):c.3062C>G (p.Pro1021Arg)
|
|
|
|
NM_002334.4(LRP4):c.3067C>A (p.Pro1023Thr)
|
|
|
|
NM_002334.4(LRP4):c.3100A>G (p.Ile1034Val)
|
|
|
|
NM_002334.4(LRP4):c.310G>A (p.Asp104Asn)
|
rs2134865411
|
|
|
NM_002334.4(LRP4):c.3141G>A (p.Met1047Ile)
|
rs2134802507
|
|
|
NM_002334.4(LRP4):c.3151C>T (p.Leu1051Phe)
|
|
|
|
NM_002334.4(LRP4):c.3199C>T (p.Pro1067Ser)
|
|
|
|
NM_002334.4(LRP4):c.320C>T (p.Pro107Leu)
|
rs2134864767
|
|
|
NM_002334.4(LRP4):c.3255_3256delinsAC (p.Ile1086Leu)
|
rs1555172311
|
|
|
NM_002334.4(LRP4):c.3267C>A (p.Asp1089Glu)
|
|
|
|
NM_002334.4(LRP4):c.3268C>T (p.Pro1090Ser)
|
|
|
|
NM_002334.4(LRP4):c.3272A>G (p.Gln1091Arg)
|
|
|
|
NM_002334.4(LRP4):c.3275A>G (p.Glu1092Gly)
|
|
|
|
NM_002334.4(LRP4):c.3277+5G>A
|
rs374900441
|
|
|
NM_002334.4(LRP4):c.3292T>A (p.Ser1098Thr)
|
|
|
|
NM_002334.4(LRP4):c.3343C>A (p.His1115Asn)
|
|
|
|
NM_002334.4(LRP4):c.3345T>A (p.His1115Gln)
|
|
|
|
NM_002334.4(LRP4):c.3349G>A (p.Asp1117Asn)
|
|
|
|
NM_002334.4(LRP4):c.3364+3G>A
|
|
|
|
NM_002334.4(LRP4):c.3389C>T (p.Ala1130Val)
|
|
|
|
NM_002334.4(LRP4):c.3406C>T (p.Arg1136Trp)
|
rs777439267
|
|
|
NM_002334.4(LRP4):c.3451G>A (p.Gly1151Ser)
|
rs1941024656
|
|
|
NM_002334.4(LRP4):c.3452G>A (p.Gly1151Asp)
|
|
|
|
NM_002334.4(LRP4):c.3454A>G (p.Asn1152Asp)
|
|
|
|
NM_002334.4(LRP4):c.3455A>T (p.Asn1152Ile)
|
|
|
|
NM_002334.4(LRP4):c.3504T>G (p.Ser1168Arg)
|
rs2134799809
|
|
|
NM_002334.4(LRP4):c.3551C>T (p.Thr1184Ile)
|
rs2134798449
|
|
|
NM_002334.4(LRP4):c.3554A>T (p.Asp1185Val)
|
|
|
|
NM_002334.4(LRP4):c.3557G>C (p.Trp1186Ser)
|
rs387906883
|
|
|
NM_002334.4(LRP4):c.3557G>T (p.Trp1186Leu)
|
|
|
|
NM_002334.4(LRP4):c.356A>T (p.Asn119Ile)
|
|
|
|
NM_002334.4(LRP4):c.3571A>C (p.Lys1191Gln)
|
|
|
|
NM_002334.4(LRP4):c.3613C>T (p.Leu1205Phe)
|
|
|
|
NM_002334.4(LRP4):c.3641A>G (p.Asn1214Ser)
|
rs1941000568
|
|
|
NM_002334.4(LRP4):c.3642T>G (p.Asn1214Lys)
|
|
|
|
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys)
|
rs786205153
|
|
|
NM_002334.4(LRP4):c.3829C>T (p.Arg1277Cys)
|
|
|
|
NM_002334.4(LRP4):c.3844A>C (p.Thr1282Pro)
|
|
|
|
NM_002334.4(LRP4):c.3890T>C (p.Met1297Thr)
|
|
|
|
NM_002334.4(LRP4):c.3907G>A (p.Asp1303Asn)
|
rs2134796086
|
|
|
NM_002334.4(LRP4):c.3908A>C (p.Asp1303Ala)
|
rs777142871
|
|
|
NM_002334.4(LRP4):c.3911G>A (p.Arg1304Gln)
|
|
|
|
NM_002334.4(LRP4):c.3925+3G>A
|
rs1217353454
|
|
|
NM_002334.4(LRP4):c.3955G>A (p.Gly1319Ser)
|
rs756790038
|
|
|
NM_002334.4(LRP4):c.3979C>T (p.Arg1327Trp)
|
|
|
|
NM_002334.4(LRP4):c.4102T>C (p.Ser1368Pro)
|
rs1565782170
|
|
|
NM_002334.4(LRP4):c.4133A>G (p.His1378Arg)
|
|
|
|
NM_002334.4(LRP4):c.4144C>T (p.Pro1382Ser)
|
rs765240067
|
|
|
NM_002334.4(LRP4):c.4147G>A (p.Glu1383Lys)
|
|
|
|
NM_002334.4(LRP4):c.4148A>C (p.Glu1383Ala)
|
rs202151304
|
|
|
NM_002334.4(LRP4):c.4148A>G (p.Glu1383Gly)
|
rs202151304
|
|
|
NM_002334.4(LRP4):c.4175A>G (p.Tyr1392Cys)
|
rs2134793655
|
|
|
NM_002334.4(LRP4):c.4229+4T>C
|
rs1836121973
|
|
|
NM_002334.4(LRP4):c.4234G>A (p.Ala1412Thr)
|
rs2134789997
|
|
|
NM_002334.4(LRP4):c.4264G>C (p.Val1422Leu)
|
rs2134789849
|
|
|
NM_002334.4(LRP4):c.430+4G>A
|
|
|
|
NM_002334.4(LRP4):c.4346G>A (p.Arg1449Gln)
|
|
|
|
NM_002334.4(LRP4):c.4397T>C (p.Ile1466Thr)
|
|
|
|
NM_002334.4(LRP4):c.4400A>G (p.Asn1467Ser)
|
rs886048349
|
|
|
NM_002334.4(LRP4):c.4424C>G (p.Ala1475Gly)
|
rs1314468807
|
|
|
NM_002334.4(LRP4):c.4478T>A (p.Ile1493Asn)
|
rs1451422777
|
|
|
NM_002334.4(LRP4):c.4513G>C (p.Glu1505Gln)
|
|
|
|
NM_002334.4(LRP4):c.4577C>T (p.Thr1526Ile)
|
|
|
|
NM_002334.4(LRP4):c.4612C>T (p.Arg1538Trp)
|
|
|
|
NM_002334.4(LRP4):c.4646G>A (p.Arg1549Gln)
|
rs886048348
|
|
|
NM_002334.4(LRP4):c.4661G>A (p.Ser1554Asn)
|
|
|
|
NM_002334.4(LRP4):c.4676C>T (p.Pro1559Leu)
|
|
|
|
NM_002334.4(LRP4):c.4702T>G (p.Trp1568Gly)
|
rs2134778108
|
|
|
NM_002334.4(LRP4):c.4727C>G (p.Thr1576Ser)
|
rs2134778058
|
|
|
NM_002334.4(LRP4):c.4759G>T (p.Gly1587Cys)
|
|
|
|
NM_002334.4(LRP4):c.4767C>G (p.Asn1589Lys)
|
rs1346806071
|
|
|
NM_002334.4(LRP4):c.4816G>A (p.Val1606Ile)
|
rs2134777729
|
|
|
NM_002334.4(LRP4):c.4837G>A (p.Gly1613Arg)
|
rs1940786470
|
|
|
NM_002334.4(LRP4):c.4850G>A (p.Cys1617Tyr)
|
rs1592515719
|
|
|
NM_002334.4(LRP4):c.489G>C (p.Glu163Asp)
|
rs1941618309
|
|
|
NM_002334.4(LRP4):c.4909T>C (p.Cys1637Arg)
|
rs2134776522
|
|
|
NM_002334.4(LRP4):c.4928C>G (p.Pro1643Arg)
|
rs767372563
|
|
|
NM_002334.4(LRP4):c.4934G>A (p.Ser1645Asn)
|
|
|
|
NM_002334.4(LRP4):c.4937G>C (p.Arg1646Pro)
|
rs3816614
|
|
|
NM_002334.4(LRP4):c.4937G>T (p.Arg1646Leu)
|
rs3816614
|
|
|
NM_002334.4(LRP4):c.4949T>G (p.Leu1650Arg)
|
|
|
|
NM_002334.4(LRP4):c.4985C>G (p.Thr1662Ser)
|
rs1384073340
|
|
|
NM_002334.4(LRP4):c.4990A>G (p.Met1664Val)
|
rs1455143794
|
|
|
NM_002334.4(LRP4):c.4991T>C (p.Met1664Thr)
|
rs747440221
|
|
|
NM_002334.4(LRP4):c.5003G>A (p.Ser1668Asn)
|
rs2134774974
|
|
|
NM_002334.4(LRP4):c.5060G>A (p.Arg1687His)
|
rs751407728
|
|
|
NM_002334.4(LRP4):c.5109G>T (p.Arg1703Ser)
|
|
|
|
NM_002334.4(LRP4):c.5113G>A (p.Gly1705Ser)
|
|
|
|
NM_002334.4(LRP4):c.5126G>C (p.Arg1709Pro)
|
rs560103351
|
|
|
NM_002334.4(LRP4):c.5140G>A (p.Val1714Ile)
|
rs1002830453
|
|
|
NM_002334.4(LRP4):c.514G>A (p.Asp172Asn)
|
rs780819863
|
|
|
NM_002334.4(LRP4):c.5162G>A (p.Gly1721Glu)
|
rs2134765636
|
|
|
NM_002334.4(LRP4):c.5168A>G (p.His1723Arg)
|
|
|
|
NM_002334.4(LRP4):c.5194C>T (p.Leu1732Phe)
|
rs1447336134
|
|
|
NM_002334.4(LRP4):c.5198G>A (p.Ser1733Asn)
|
rs2134765445
|
|
|
NM_002334.4(LRP4):c.52+6C>A
|
|
|
|
NM_002334.4(LRP4):c.5243+6T>C
|
rs376294734
|
|
|
NM_002334.4(LRP4):c.5259_5267del (p.Lys1753_Asp1756delinsAsn)
|
rs1592509652
|
|
|
NM_002334.4(LRP4):c.525T>A (p.Asp175Glu)
|
|
|
|
NM_002334.4(LRP4):c.5283C>A (p.Asn1761Lys)
|
|
|
|
NM_002334.4(LRP4):c.5357T>C (p.Met1786Thr)
|
|
|
|
NM_002334.4(LRP4):c.5386-12T>C
|
|
|
|
NM_002334.4(LRP4):c.5402A>G (p.Asn1801Ser)
|
|
|
|
NM_002334.4(LRP4):c.5414AGA[1] (p.Lys1806del)
|
rs769465803
|
|
|
NM_002334.4(LRP4):c.5426T>A (p.Ile1809Asn)
|
rs373162825
|
|
|
NM_002334.4(LRP4):c.5441G>C (p.Cys1814Ser)
|
rs760515633
|
|
|
NM_002334.4(LRP4):c.548-18C>G
|
rs779705585
|
|
|
NM_002334.4(LRP4):c.5498G>T (p.Arg1833Leu)
|
|
|
|
NM_002334.4(LRP4):c.54C>T (p.Gly18=)
|
rs372935440
|
|
|
NM_002334.4(LRP4):c.5500G>C (p.Gly1834Arg)
|
rs142462686
|
|
|
NM_002334.4(LRP4):c.5504dup (p.Leu1836fs)
|
|
|
|
NM_002334.4(LRP4):c.5506C>G (p.Leu1836Val)
|
rs2134750890
|
|
|
NM_002334.4(LRP4):c.5506C>T (p.Leu1836Phe)
|
|
|
|
NM_002334.4(LRP4):c.5507T>C (p.Leu1836Pro)
|
|
|
|
NM_002334.4(LRP4):c.5510T>C (p.Leu1837Pro)
|
|
|
|
NM_002334.4(LRP4):c.5512C>T (p.Arg1838Trp)
|
|
|
|
NM_002334.4(LRP4):c.5513G>T (p.Arg1838Leu)
|
|
|
|
NM_002334.4(LRP4):c.5524T>C (p.Cys1842Arg)
|
|
|
|
NM_002334.4(LRP4):c.5577C>G (p.Asp1859Glu)
|
|
|
|
NM_002334.4(LRP4):c.5607G>C (p.Glu1869Asp)
|
|
|
|
NM_002334.4(LRP4):c.5608C>T (p.Gln1870Ter)
|
|
|
|
NM_002334.4(LRP4):c.560C>T (p.Pro187Leu)
|
|
|
|
NM_002334.4(LRP4):c.5633C>T (p.Thr1878Ile)
|
rs1940461595
|
|
|
NM_002334.4(LRP4):c.5678_5682del (p.Trp1893fs)
|
|
|
|
NM_002334.4(LRP4):c.5698T>C (p.Ser1900Pro)
|
|
|
|
NM_002334.4(LRP4):c.611T>C (p.Ile204Thr)
|
rs2134862174
|
|
|
NM_002334.4(LRP4):c.616G>A (p.Asp206Asn)
|
|
|
|
NM_002334.4(LRP4):c.637G>A (p.Asp213Asn)
|
|
|
|
NM_002334.4(LRP4):c.664G>A (p.Glu222Lys)
|
|
|
|
NM_002334.4(LRP4):c.682C>T (p.His228Tyr)
|
rs2134861515
|
|
|
NM_002334.4(LRP4):c.713G>A (p.Cys238Tyr)
|
rs770285774
|
|
|
NM_002334.4(LRP4):c.797-3C>T
|
rs1941546855
|
|
|
NM_002334.4(LRP4):c.814G>A (p.Ala272Thr)
|
|
|
|
NM_002334.4(LRP4):c.820C>G (p.Gln274Glu)
|
|
|
|
NM_002334.4(LRP4):c.827G>A (p.Arg276His)
|
rs1592543038
|
|
|
NM_002334.4(LRP4):c.83G>A (p.Gly28Asp)
|
rs1183268699
|
|
|
NM_002334.4(LRP4):c.841C>T (p.Arg281Cys)
|
|
|
|
NM_002334.4(LRP4):c.862C>G (p.Arg288Gly)
|
|
|
|
NM_002334.4(LRP4):c.863G>A (p.Arg288His)
|
|
|
|
NM_002334.4(LRP4):c.86G>A (p.Arg29Gln)
|
|
|
|
NM_002334.4(LRP4):c.887C>G (p.Ala296Gly)
|
rs1941543958
|
|
|
NM_002334.4(LRP4):c.926G>A (p.Ser309Asn)
|
|
|
|
NM_002334.4(LRP4):c.933A>C (p.Gln311His)
|
|
|
|
NM_002334.4(LRP4):c.952C>G (p.Leu318Val)
|
rs2134854486
|
|
|
NM_002334.4(LRP4):c.970T>A (p.Cys324Ser)
|
rs2134854401
|
|
|
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer)
|
rs113614842
|
|
|
NM_002968.3(SALL1):c.109A>T (p.Thr37Ser)
|
|
|
|
NM_002968.3(SALL1):c.1113ATC[1] (p.Ser375del)
|
rs758101035
|
|
|
NM_002968.3(SALL1):c.1210A>C (p.Ser404Arg)
|
|
|
|
NM_002968.3(SALL1):c.1234A>G (p.Thr412Ala)
|
|
|
|
NM_002968.3(SALL1):c.1306T>G (p.Phe436Val)
|
|
|
|
NM_002968.3(SALL1):c.1329T>G (p.Asp443Glu)
|
|
|
|
NM_002968.3(SALL1):c.1364C>G (p.Ala455Gly)
|
|
|
|
NM_002968.3(SALL1):c.1458C>G (p.Phe486Leu)
|
|
|
|
NM_002968.3(SALL1):c.1556A>G (p.Asn519Ser)
|
|
|
|
NM_002968.3(SALL1):c.1583A>G (p.Tyr528Cys)
|
|
|
|
NM_002968.3(SALL1):c.1589T>G (p.Met530Arg)
|
|
|
|
NM_002968.3(SALL1):c.1636C>G (p.Pro546Ala)
|
|
|
|
NM_002968.3(SALL1):c.1754C>T (p.Thr585Ile)
|
|
|
|
NM_002968.3(SALL1):c.1763C>A (p.Pro588Gln)
|
|
|
|
NM_002968.3(SALL1):c.1921G>A (p.Val641Ile)
|
|
|
|
NM_002968.3(SALL1):c.1948G>A (p.Gly650Ser)
|
|
|
|
NM_002968.3(SALL1):c.1954G>A (p.Ala652Thr)
|
|
|
|
NM_002968.3(SALL1):c.1955C>T (p.Ala652Val)
|
|
|
|
NM_002968.3(SALL1):c.1991C>T (p.Pro664Leu)
|
|
|
|
NM_002968.3(SALL1):c.2018A>G (p.Lys673Arg)
|
|
|
|
NM_002968.3(SALL1):c.2027T>C (p.Phe676Ser)
|
|
|
|
NM_002968.3(SALL1):c.2030G>C (p.Gly677Ala)
|
|
|
|
NM_002968.3(SALL1):c.2104G>A (p.Ala702Thr)
|
|
|
|
NM_002968.3(SALL1):c.2117A>G (p.Asn706Ser)
|
|
|
|
NM_002968.3(SALL1):c.2130C>G (p.Ile710Met)
|
|
|
|
NM_002968.3(SALL1):c.2195G>A (p.Arg732Lys)
|
|
|
|
NM_002968.3(SALL1):c.2204A>G (p.Lys735Arg)
|
|
|
|
NM_002968.3(SALL1):c.2269C>T (p.Arg757Cys)
|
|
|
|
NM_002968.3(SALL1):c.2393T>G (p.Val798Gly)
|
|
|
|
NM_002968.3(SALL1):c.239C>A (p.Ser80Tyr)
|
|
|
|
NM_002968.3(SALL1):c.2416A>G (p.Met806Val)
|
|
|
|
NM_002968.3(SALL1):c.2555C>G (p.Ser852Cys)
|
|
|
|
NM_002968.3(SALL1):c.2563C>T (p.Pro855Ser)
|
|
|
|
NM_002968.3(SALL1):c.2582C>T (p.Ser861Leu)
|
|
|
|
NM_002968.3(SALL1):c.268C>T (p.Pro90Ser)
|
rs749198993
|
|
|
NM_002968.3(SALL1):c.2780A>G (p.Gln927Arg)
|
|
|
|
NM_002968.3(SALL1):c.2800A>G (p.Ser934Gly)
|
|
|
|
NM_002968.3(SALL1):c.2852C>T (p.Ala951Val)
|
rs766899404
|
|
|
NM_002968.3(SALL1):c.2862C>T (p.Ser954=)
|
|
|
|
NM_002968.3(SALL1):c.2863G>A (p.Glu955Lys)
|
|
|
|
NM_002968.3(SALL1):c.2882C>T (p.Ser961Phe)
|
|
|
|
NM_002968.3(SALL1):c.2929G>A (p.Ala977Thr)
|
|
|
|
NM_002968.3(SALL1):c.3000C>G (p.Asn1000Lys)
|
|
|
|
NM_002968.3(SALL1):c.3095C>T (p.Thr1032Ile)
|
|
|
|
NM_002968.3(SALL1):c.3209A>G (p.Asn1070Ser)
|
|
|
|
NM_002968.3(SALL1):c.3347C>T (p.Ser1116Phe)
|
|
|
|
NM_002968.3(SALL1):c.3373G>T (p.Ala1125Ser)
|
|
|
|
NM_002968.3(SALL1):c.3437C>T (p.Ser1146Leu)
|
|
|
|
NM_002968.3(SALL1):c.3584G>A (p.Arg1195Gln)
|
rs1030315086
|
|
|
NM_002968.3(SALL1):c.3617T>C (p.Leu1206Pro)
|
|
|
|
NM_002968.3(SALL1):c.3648G>A (p.Met1216Ile)
|
|
|
|
NM_002968.3(SALL1):c.3685G>A (p.Asp1229Asn)
|
|
|
|
NM_002968.3(SALL1):c.3696C>G (p.Ser1232Arg)
|
|
|
|
NM_002968.3(SALL1):c.3802G>A (p.Gly1268Ser)
|
|
|
|
NM_002968.3(SALL1):c.3843C>G (p.Asn1281Lys)
|
rs1962320266
|
|
|
NM_002968.3(SALL1):c.3928C>T (p.Arg1310Cys)
|
|
|
|
NM_002968.3(SALL1):c.3937C>T (p.Arg1313Cys)
|
|
|
|
NM_002968.3(SALL1):c.419C>A (p.Ser140Tyr)
|
|
|
|
NM_002968.3(SALL1):c.424G>A (p.Gly142Ser)
|
rs553871743
|
|
|
NM_002968.3(SALL1):c.429C>G (p.Ser143Arg)
|
|
|
|
NM_002968.3(SALL1):c.442G>A (p.Ala148Thr)
|
|
|
|
NM_002968.3(SALL1):c.460_480del (p.Ser154_Gly160del)
|
|
|
|
NM_002968.3(SALL1):c.477_478insAGCACC (p.Ser159_Gly160insSerThr)
|
|
|
|
NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly)
|
rs1555475415
|
|
|
NM_002968.3(SALL1):c.481G>A (p.Gly161Ser)
|
|
|
|
NM_002968.3(SALL1):c.61C>A (p.Leu21Ile)
|
|
|
|
NM_002968.3(SALL1):c.630C>A (p.Phe210Leu)
|
|
|
|
NM_002968.3(SALL1):c.71G>T (p.Arg24Leu)
|
|
|
|
NM_002968.3(SALL1):c.827G>C (p.Arg276Pro)
|
|
|
|
NM_002968.3(SALL1):c.868T>C (p.Ser290Pro)
|
|
|
|
NM_002968.3(SALL1):c.972C>A (p.Ser324Arg)
|
|
|
|
NM_002968.3(SALL1):c.983A>G (p.Asn328Ser)
|
|
|
|
NM_003289.4(TPM2):c.104G>T (p.Arg35Leu)
|
|
|
|
NM_003289.4(TPM2):c.14AGA[1] (p.Lys6_Lys7del)
|
|
|
|
NM_003289.4(TPM2):c.181T>C (p.Ser61Pro)
|
rs878854363
|
|
|
NM_003289.4(TPM2):c.196G>A (p.Glu66Lys)
|
|
|
|
NM_003289.4(TPM2):c.220G>A (p.Ala74Thr)
|
|
|
|
NM_003289.4(TPM2):c.240T>C (p.Asp80=)
|
|
|
|
NM_003289.4(TPM2):c.272G>A (p.Arg91His)
|
|
|
|
NM_003289.4(TPM2):c.301C>T (p.Arg101Trp)
|
|
|
|
NM_003289.4(TPM2):c.302G>A (p.Arg101Gln)
|
rs2131853430
|
|
|
NM_003289.4(TPM2):c.302G>C (p.Arg101Pro)
|
|
|
|
NM_003289.4(TPM2):c.314G>A (p.Arg105His)
|
|
|
|
NM_003289.4(TPM2):c.341AGG[1] (p.Glu115del)
|
rs1554659007
|
|
|
NM_003289.4(TPM2):c.345G>C (p.Glu115Asp)
|
rs2131853306
|
|
|
NM_003289.4(TPM2):c.356C>T (p.Ala119Val)
|
|
|
|
NM_003289.4(TPM2):c.362A>T (p.Asp121Val)
|
rs1824862680
|
|
|
NM_003289.4(TPM2):c.374+3G>A
|
|
|
|
NM_003289.4(TPM2):c.374+9G>A
|
|
|
|
NM_003289.4(TPM2):c.379A>G (p.Met127Val)
|
|
|
|
NM_003289.4(TPM2):c.388_390dup (p.Ile130dup)
|
rs1824851546
|
|
|
NM_003289.4(TPM2):c.391G>A (p.Glu131Lys)
|
|
|
|
NM_003289.4(TPM2):c.398G>C (p.Arg133Pro)
|
rs199476152
|
|
|
NM_003289.4(TPM2):c.428T>A (p.Leu143Gln)
|
rs1824848681
|
|
|
NM_003289.4(TPM2):c.440A>C (p.Gln147Pro)
|
rs104894128
|
|
|
NM_003289.4(TPM2):c.463G>A (p.Ala155Thr)
|
rs1563929039
|
|
|
NM_003289.4(TPM2):c.464C>T (p.Ala155Val)
|
rs1824846097
|
|
|
NM_003289.4(TPM2):c.470A>G (p.Asp157Gly)
|
|
|
|
NM_003289.4(TPM2):c.485A>T (p.Tyr162Phe)
|
|
|
|
NM_003289.4(TPM2):c.52G>A (p.Ala18Thr)
|
|
|
|
NM_003289.4(TPM2):c.533G>T (p.Arg178Leu)
|
rs765802464
|
|
|
NM_003289.4(TPM2):c.562A>T (p.Ser188Cys)
|
|
|
|
NM_003289.4(TPM2):c.563+15G>T
|
|
|
|
NM_003289.4(TPM2):c.564-19_564-18insA
|
|
|
|
NM_003289.4(TPM2):c.565A>G (p.Lys189Glu)
|
rs2131849903
|
|
|
NM_003289.4(TPM2):c.577C>G (p.Leu193Val)
|
|
|
|
NM_003289.4(TPM2):c.58G>C (p.Asp20His)
|
|
|
|
NM_003289.4(TPM2):c.635A>G (p.Asp212Gly)
|
rs1554658784
|
|
|
NM_003289.4(TPM2):c.639+6G>C
|
|
|
|
NM_003289.4(TPM2):c.643T>G (p.Ser215Ala)
|
|
|
|
NM_003289.4(TPM2):c.653A>C (p.Glu218Ala)
|
|
|
|
NM_003289.4(TPM2):c.719A>G (p.Glu240Gly)
|
|
|
|
NM_003289.4(TPM2):c.727G>A (p.Glu243Lys)
|
|
|
|
NM_003289.4(TPM2):c.743A>T (p.Lys248Met)
|
|
|
|
NM_003289.4(TPM2):c.757A>G (p.Ile253Val)
|
rs1476739780
|
|
|
NM_003289.4(TPM2):c.781T>C (p.Tyr261His)
|
|
|
|
NM_003289.4(TPM2):c.829G>A (p.Ala277Thr)
|
|
|
|
NM_003289.4(TPM2):c.830C>T (p.Ala277Val)
|
rs1824673399
|
|
|
NM_003289.4(TPM2):c.832C>T (p.Leu278Phe)
|
|
|
|
NM_003334.4(UBA1):c.1011C>G (p.His337Gln)
|
rs1044559809
|
|
|
NM_003334.4(UBA1):c.1042C>T (p.Arg348Trp)
|
|
|
|
NM_003334.4(UBA1):c.1043G>A (p.Arg348Gln)
|
|
|
|
NM_003334.4(UBA1):c.1048C>T (p.Arg350Cys)
|
rs1556788657
|
|
|
NM_003334.4(UBA1):c.1054G>A (p.Glu352Lys)
|
rs2147260047
|
|
|
NM_003334.4(UBA1):c.106G>A (p.Val36Met)
|
rs990805894
|
|
|
NM_003334.4(UBA1):c.1089G>T (p.Gln363His)
|
|
|
|
NM_003334.4(UBA1):c.1090G>A (p.Ala364Thr)
|
|
|
|
NM_003334.4(UBA1):c.1094T>C (p.Val365Ala)
|
rs2147260730
|
|
|
NM_003334.4(UBA1):c.1114G>A (p.Ala372Thr)
|
rs2147260791
|
|
|
NM_003334.4(UBA1):c.1115C>G (p.Ala372Gly)
|
|
|
|
NM_003334.4(UBA1):c.1115C>T (p.Ala372Val)
|
rs782051479
|
|
|
NM_003334.4(UBA1):c.1131C>G (p.Asn377Lys)
|
rs1936465009
|
|
|
NM_003334.4(UBA1):c.1138G>A (p.Glu380Lys)
|
|
|
|
NM_003334.4(UBA1):c.1159G>A (p.Ala387Thr)
|
rs1556788813
|
|
|
NM_003334.4(UBA1):c.1163A>G (p.Tyr388Cys)
|
|
|
|
NM_003334.4(UBA1):c.118-11_118-3del
|
rs2147250233
|
|
|
NM_003334.4(UBA1):c.118-1G>C
|
rs2147250287
|
|
|
NM_003334.4(UBA1):c.118-2A>C
|
rs2147250283
|
|
|
NM_003334.4(UBA1):c.121A>C (p.Met41Leu)
|
rs1936307795
|
|
|
NM_003334.4(UBA1):c.121A>G (p.Met41Val)
|
rs1936307795
|
|
|
NM_003334.4(UBA1):c.122T>C (p.Met41Thr)
|
rs782416867
|
|
|
NM_003334.4(UBA1):c.1233+9G>A
|
|
|
|
NM_003334.4(UBA1):c.1252A>G (p.Met418Val)
|
|
|
|
NM_003334.4(UBA1):c.1288G>C (p.Glu430Gln)
|
|
|
|
NM_003334.4(UBA1):c.1292G>C (p.Cys431Ser)
|
rs1936478450
|
|
|
NM_003334.4(UBA1):c.1313T>G (p.Val438Gly)
|
rs1936479502
|
|
|
NM_003334.4(UBA1):c.133G>A (p.Gly45Ser)
|
|
|
|
NM_003334.4(UBA1):c.1378T>C (p.Ser460Pro)
|
|
|
|
NM_003334.4(UBA1):c.1404G>T (p.Lys468Asn)
|
rs782565391
|
|
|
NM_003334.4(UBA1):c.1432G>T (p.Ala478Ser)
|
|
|
|
NM_003334.4(UBA1):c.1469T>C (p.Ile490Thr)
|
rs1602635435
|
|
|
NM_003334.4(UBA1):c.1516G>A (p.Asp506Asn)
|
rs2147263751
|
|
|
NM_003334.4(UBA1):c.1575G>A (p.Thr525=)
|
|
|
|
NM_003334.4(UBA1):c.1612C>A (p.Gln538Lys)
|
|
|
|
NM_003334.4(UBA1):c.1617G>A (p.Met539Ile)
|
rs80356545
|
|
|
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile)
|
rs80356545
|
|
|
NM_003334.4(UBA1):c.1631G>A (p.Arg544Gln)
|
rs1556790802
|
|
|
NM_003334.4(UBA1):c.1673G>A (p.Arg558His)
|
rs782746954
|
|
|
NM_003334.4(UBA1):c.167C>T (p.Ser56Phe)
|
rs2147250370
|
|
|
NM_003334.4(UBA1):c.1687G>T (p.Asp563Tyr)
|
rs2147273137
|
|
|
NM_003334.4(UBA1):c.1730A>G (p.Asn577Ser)
|
rs1556790852
|
|
|
NM_003334.4(UBA1):c.1741+15G>A
|
|
|
|
NM_003334.4(UBA1):c.1742-3C>T
|
|
|
|
NM_003334.4(UBA1):c.1853A>G (p.Tyr618Cys)
|
rs1556791125
|
|
|
NM_003334.4(UBA1):c.1858T>C (p.Ser620Pro)
|
|
|
|
NM_003334.4(UBA1):c.1859C>G (p.Ser620Cys)
|
|
|
|
NM_003334.4(UBA1):c.1921A>G (p.Ile641Val)
|
|
|
|
NM_003334.4(UBA1):c.1939-11_1939-3del
|
rs1936835385
|
|
|
NM_003334.4(UBA1):c.1939-14_1939-13delinsAT
|
|
|
|
NM_003334.4(UBA1):c.1953G>C (p.Glu651Asp)
|
rs2147286332
|
|
|
NM_003334.4(UBA1):c.195G>C (p.Glu65Asp)
|
rs1936314065
|
|
|
NM_003334.4(UBA1):c.1963C>A (p.Leu655Ile)
|
|
|
|
NM_003334.4(UBA1):c.2045C>G (p.Thr682Ser)
|
|
|
|
NM_003334.4(UBA1):c.2059G>A (p.Val687Met)
|
rs1298433365
|
|
|
NM_003334.4(UBA1):c.205C>T (p.Arg69Trp)
|
|
|
|
NM_003334.4(UBA1):c.2071G>C (p.Val691Leu)
|
|
|
|
NM_003334.4(UBA1):c.2077C>T (p.Arg693Cys)
|
|
|
|
NM_003334.4(UBA1):c.2078G>A (p.Arg693His)
|
|
|
|
NM_003334.4(UBA1):c.2094G>T (p.Gln698His)
|
rs1556792871
|
|
|
NM_003334.4(UBA1):c.2096G>A (p.Arg699Gln)
|
|
|
|
NM_003334.4(UBA1):c.2106C>G (p.Thr702=)
|
rs1936856451
|
|
|
NM_003334.4(UBA1):c.2119G>A (p.Val707Met)
|
|
|
|
NM_003334.4(UBA1):c.2219C>T (p.Pro740Leu)
|
|
|
|
NM_003334.4(UBA1):c.2252C>T (p.Pro751Leu)
|
rs1936888439
|
|
|
NM_003334.4(UBA1):c.2273A>G (p.Asn758Ser)
|
|
|
|
NM_003334.4(UBA1):c.2365A>G (p.Thr789Ala)
|
|
|
|
NM_003334.4(UBA1):c.2388C>A (p.Val796=)
|
|
|
|
NM_003334.4(UBA1):c.2408C>T (p.Ser803Phe)
|
|
|
|
NM_003334.4(UBA1):c.2413G>A (p.Val805Ile)
|
|
|
|
NM_003334.4(UBA1):c.241C>T (p.Arg81Trp)
|
rs1168231329
|
|
|
NM_003334.4(UBA1):c.2452A>G (p.Asn818Asp)
|
rs1569216553
|
|
|
NM_003334.4(UBA1):c.2455_2456delinsAT (p.Ala819Ile)
|
|
|
|
NM_003334.4(UBA1):c.2464+6_2464+9del
|
rs1175155400
|
|
|
NM_003334.4(UBA1):c.2464+7G>T
|
|
|
|
NM_003334.4(UBA1):c.2492C>T (p.Ala831Val)
|
|
|
|
NM_003334.4(UBA1):c.2621A>C (p.Asp874Ala)
|
|
|
|
NM_003334.4(UBA1):c.2622C>A (p.Asp874Glu)
|
rs1556793890
|
|
|
NM_003334.4(UBA1):c.2638C>T (p.Arg880Trp)
|
|
|
|
NM_003334.4(UBA1):c.2653C>A (p.Leu885Met)
|
rs782087876
|
|
|
NM_003334.4(UBA1):c.2701G>A (p.Val901Met)
|
|
|
|
NM_003334.4(UBA1):c.2750G>T (p.Arg917Leu)
|
rs782409785
|
|
|
NM_003334.4(UBA1):c.2830C>T (p.Arg944Cys)
|
rs1556794074
|
|
|
NM_003334.4(UBA1):c.2942C>A (p.Thr981Lys)
|
|
|
|
NM_003334.4(UBA1):c.2987T>A (p.Met996Lys)
|
rs1602662535
|
|
|
NM_003334.4(UBA1):c.3008C>T (p.Pro1003Leu)
|
rs2147304012
|
|
|
NM_003334.4(UBA1):c.3074G>A (p.Arg1025Gln)
|
|
|
|
NM_003334.4(UBA1):c.3091G>A (p.Val1031Met)
|
|
|
|
NM_003334.4(UBA1):c.3091G>T (p.Val1031Leu)
|
|
|
|
NM_003334.4(UBA1):c.3095G>A (p.Arg1032Gln)
|
|
|
|
NM_003334.4(UBA1):c.3173G>A (p.Arg1058His)
|
rs374092856
|
|
|
NM_003334.4(UBA1):c.3177A>G (p.Ter1059Trp)
|
|
|
|
NM_003334.4(UBA1):c.347T>G (p.Phe116Cys)
|
|
|
|
NM_003334.4(UBA1):c.356G>A (p.Arg119Gln)
|
rs1556786841
|
|
|
NM_003334.4(UBA1):c.367A>G (p.Ile123Val)
|
|
|
|
NM_003334.4(UBA1):c.377A>G (p.Asn126Ser)
|
rs781821596
|
|
|
NM_003334.4(UBA1):c.406G>A (p.Ala136Thr)
|
|
|
|
NM_003334.4(UBA1):c.406G>T (p.Ala136Ser)
|
rs1159180530
|
|
|
NM_003334.4(UBA1):c.448C>T (p.Pro150Ser)
|
|
|
|
NM_003334.4(UBA1):c.484G>T (p.Val162Leu)
|
|
|
|
NM_003334.4(UBA1):c.500C>T (p.Thr167Ile)
|
rs1936389956
|
|
|
NM_003334.4(UBA1):c.503C>T (p.Pro168Leu)
|
|
|
|
NM_003334.4(UBA1):c.545G>A (p.Arg182His)
|
|
|
|
NM_003334.4(UBA1):c.54G>T (p.Lys18Asn)
|
|
|
|
NM_003334.4(UBA1):c.559G>T (p.Val187Leu)
|
rs1556787682
|
|
|
NM_003334.4(UBA1):c.572C>T (p.Thr191Met)
|
|
|
|
NM_003334.4(UBA1):c.587+3G>A
|
rs782499064
|
|
|
NM_003334.4(UBA1):c.632C>G (p.Ser211Cys)
|
rs1936410112
|
|
|
NM_003334.4(UBA1):c.64A>G (p.Asn22Asp)
|
|
|
|
NM_003334.4(UBA1):c.658A>G (p.Met220Val)
|
|
|
|
NM_003334.4(UBA1):c.667A>G (p.Met223Val)
|
|
|
|
NM_003334.4(UBA1):c.669G>A (p.Met223Ile)
|
|
|
|
NM_003334.4(UBA1):c.678+4A>T
|
|
|
|
NM_003334.4(UBA1):c.678+6G>A
|
|
|
|
NM_003334.4(UBA1):c.683A>C (p.Asn228Thr)
|
rs1936415717
|
|
|
NM_003334.4(UBA1):c.683A>G (p.Asn228Ser)
|
rs1936415717
|
|
|
NM_003334.4(UBA1):c.746C>T (p.Ser249Phe)
|
rs782434472
|
|
|
NM_003334.4(UBA1):c.757G>A (p.Val253Ile)
|
|
|
|
NM_003334.4(UBA1):c.76G>A (p.Ala26Thr)
|
|
|
|
NM_003334.4(UBA1):c.779A>G (p.Asn260Ser)
|
|
|
|
NM_003334.4(UBA1):c.790C>G (p.Pro264Ala)
|
|
|
|
NM_003334.4(UBA1):c.793A>G (p.Met265Val)
|
rs1936419804
|
|
|
NM_003334.4(UBA1):c.804A>T (p.Lys268Asn)
|
rs781996319
|
|
|
NM_003334.4(UBA1):c.829A>G (p.Ile277Val)
|
|
|
|
NM_003334.4(UBA1):c.859A>G (p.Ile287Val)
|
rs1556788364
|
|
|
NM_003334.4(UBA1):c.85G>A (p.Val29Met)
|
rs1936300089
|
|
|
NM_003334.4(UBA1):c.874G>A (p.Val292Ile)
|
rs1301756527
|
|
|
NM_003334.4(UBA1):c.875T>C (p.Val292Ala)
|
|
|
|
NM_003334.4(UBA1):c.910-9C>G
|
rs1602632158
|
|
|
NM_003334.4(UBA1):c.914C>G (p.Ser305Cys)
|
|
|
|
NM_003334.4(UBA1):c.920T>C (p.Val307Ala)
|
|
|
|
NM_003334.4(UBA1):c.92C>G (p.Ser31Cys)
|
|
|
|
NM_003334.4(UBA1):c.977C>T (p.Pro326Leu)
|
rs782052714
|
|
|
NM_003334.4(UBA1):c.991A>G (p.Ile331Val)
|
|
|
|
NM_004380.3(CREBBP):c.1043C>T (p.Pro348Leu)
|
|
|
|
NM_004380.3(CREBBP):c.1109G>C (p.Arg370Pro)
|
rs1179677806
|
|
|
NM_004380.3(CREBBP):c.1133G>T (p.Arg378Leu)
|
|
|
|
NM_004380.3(CREBBP):c.1148C>T (p.Pro383Leu)
|
rs2053545106
|
|
|
NM_004380.3(CREBBP):c.1157G>A (p.Arg386Gln)
|
|
|
|
NM_004380.3(CREBBP):c.1216+4A>G
|
|
|
|
NM_004380.3(CREBBP):c.1406C>G (p.Ser469Cys)
|
|
|
|
NM_004380.3(CREBBP):c.1451C>T (p.Ala484Val)
|
|
|
|
NM_004380.3(CREBBP):c.1504C>T (p.Pro502Ser)
|
|
|
|
NM_004380.3(CREBBP):c.1525C>T (p.Pro509Ser)
|
|
|
|
NM_004380.3(CREBBP):c.1534C>A (p.Pro512Thr)
|
|
|
|
NM_004380.3(CREBBP):c.1556G>A (p.Arg519Lys)
|
|
|
|
NM_004380.3(CREBBP):c.1577A>G (p.Asn526Ser)
|
|
|
|
NM_004380.3(CREBBP):c.1582C>G (p.Pro528Ala)
|
|
|
|
NM_004380.3(CREBBP):c.1594C>A (p.Pro532Thr)
|
|
|
|
NM_004380.3(CREBBP):c.1636A>G (p.Ile546Val)
|
|
|
|
NM_004380.3(CREBBP):c.165C>A (p.Asn55Lys)
|
|
|
|
NM_004380.3(CREBBP):c.1678C>A (p.Pro560Thr)
|
|
|
|
NM_004380.3(CREBBP):c.1679C>A (p.Pro560Gln)
|
|
|
|
NM_004380.3(CREBBP):c.1690G>A (p.Asp564Asn)
|
|
|
|
NM_004380.3(CREBBP):c.172A>T (p.Asn58Tyr)
|
|
|
|
NM_004380.3(CREBBP):c.1853C>G (p.Pro618Arg)
|
|
|
|
NM_004380.3(CREBBP):c.1925A>G (p.Glu642Gly)
|
|
|
|
NM_004380.3(CREBBP):c.1934A>G (p.Asn645Ser)
|
|
|
|
NM_004380.3(CREBBP):c.1941+4G>C
|
|
|
|
NM_004380.3(CREBBP):c.1941G>A (p.Arg647=)
|
|
|
|
NM_004380.3(CREBBP):c.1984C>A (p.Gln662Lys)
|
|
|
|
NM_004380.3(CREBBP):c.2031C>T (p.Gly677=)
|
|
|
|
NM_004380.3(CREBBP):c.2077C>G (p.Pro693Ala)
|
|
|
|
NM_004380.3(CREBBP):c.2098C>T (p.Pro700Ser)
|
|
|
|
NM_004380.3(CREBBP):c.2113+3A>G
|
|
|
|
NM_004380.3(CREBBP):c.2119C>T (p.Pro707Ser)
|
|
|
|
NM_004380.3(CREBBP):c.2138A>G (p.Asn713Ser)
|
|
|
|
NM_004380.3(CREBBP):c.2141G>T (p.Arg714Leu)
|
rs141098117
|
|
|
NM_004380.3(CREBBP):c.2167T>G (p.Ser723Ala)
|
|
|
|
NM_004380.3(CREBBP):c.2177C>A (p.Pro726His)
|
|
|
|
NM_004380.3(CREBBP):c.2179A>G (p.Met727Val)
|
|
|
|
NM_004380.3(CREBBP):c.2181G>T (p.Met727Ile)
|
|
|
|
NM_004380.3(CREBBP):c.2194G>A (p.Val732Ile)
|
|
|
|
NM_004380.3(CREBBP):c.2306T>A (p.Met769Lys)
|
|
|
|
NM_004380.3(CREBBP):c.2323A>G (p.Met775Val)
|
rs990281677
|
|
|
NM_004380.3(CREBBP):c.2339C>A (p.Thr780Asn)
|
|
|
|
NM_004380.3(CREBBP):c.2347A>G (p.Met783Val)
|
|
|
|
NM_004380.3(CREBBP):c.2347A>T (p.Met783Leu)
|
|
|
|
NM_004380.3(CREBBP):c.2348T>G (p.Met783Arg)
|
|
|
|
NM_004380.3(CREBBP):c.2349G>C (p.Met783Ile)
|
|
|
|
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del)
|
rs755265819
|
|
|
NM_004380.3(CREBBP):c.2463+4C>T
|
|
|
|
NM_004380.3(CREBBP):c.248A>C (p.Asn83Thr)
|
|
|
|
NM_004380.3(CREBBP):c.2512C>A (p.Pro838Thr)
|
|
|
|
NM_004380.3(CREBBP):c.2528T>C (p.Leu843Pro)
|
|
|
|
NM_004380.3(CREBBP):c.258A>G (p.Ile86Met)
|
rs2054819160
|
|
|
NM_004380.3(CREBBP):c.2638C>T (p.Pro880Ser)
|
|
|
|
NM_004380.3(CREBBP):c.2712C>G (p.Gly904=)
|
|
|
|
NM_004380.3(CREBBP):c.2716G>C (p.Val906Leu)
|
|
|
|
NM_004380.3(CREBBP):c.2726C>G (p.Ala909Gly)
|
|
|
|
NM_004380.3(CREBBP):c.2744C>T (p.Thr915Ile)
|
|
|
|
NM_004380.3(CREBBP):c.2750C>T (p.Thr917Ile)
|
|
|
|
NM_004380.3(CREBBP):c.2765C>A (p.Ala922Asp)
|
|
|
|
NM_004380.3(CREBBP):c.2806_2811del (p.Pro936_Pro937del)
|
rs2141199443
|
|
|
NM_004380.3(CREBBP):c.2830T>C (p.Ser944Pro)
|
|
|
|
NM_004380.3(CREBBP):c.2852C>T (p.Pro951Leu)
|
|
|
|
NM_004380.3(CREBBP):c.2881-13G>A
|
rs751913060
|
|
|
NM_004380.3(CREBBP):c.2903T>C (p.Ile968Thr)
|
rs147795744
|
|
|
NM_004380.3(CREBBP):c.2917C>A (p.Pro973Thr)
|
|
|
|
NM_004380.3(CREBBP):c.2924C>T (p.Pro975Leu)
|
|
|
|
NM_004380.3(CREBBP):c.2992A>G (p.Lys998Glu)
|
|
|
|
NM_004380.3(CREBBP):c.3044_3046del (p.Gly1015del)
|
|
|
|
NM_004380.3(CREBBP):c.3133C>G (p.Pro1045Ala)
|
|
|
|
NM_004380.3(CREBBP):c.3151A>G (p.Lys1051Glu)
|
|
|
|
NM_004380.3(CREBBP):c.3161A>G (p.Glu1054Gly)
|
|
|
|
NM_004380.3(CREBBP):c.3175G>C (p.Val1059Leu)
|
|
|
|
NM_004380.3(CREBBP):c.3178_3183del (p.Lys1060_Glu1061del)
|
|
|
|
NM_004380.3(CREBBP):c.3185A>C (p.Glu1062Ala)
|
|
|
|
NM_004380.3(CREBBP):c.318G>C (p.Gln106His)
|
|
|
|
NM_004380.3(CREBBP):c.318G>T (p.Gln106His)
|
|
|
|
NM_004380.3(CREBBP):c.3208A>C (p.Thr1070Pro)
|
|
|
|
NM_004380.3(CREBBP):c.320C>G (p.Pro107Arg)
|
rs766844540
|
|
|
NM_004380.3(CREBBP):c.3212C>T (p.Ala1071Val)
|
|
|
|
NM_004380.3(CREBBP):c.3238C>G (p.Pro1080Ala)
|
|
|
|
NM_004380.3(CREBBP):c.323A>G (p.Asn108Ser)
|
|
|
|
NM_004380.3(CREBBP):c.3242G>A (p.Arg1081His)
|
|
|
|
NM_004380.3(CREBBP):c.3250+4G>A
|
|
|
|
NM_004380.3(CREBBP):c.3250A>C (p.Ile1084Leu)
|
|
|
|
NM_004380.3(CREBBP):c.3250A>T (p.Ile1084Phe)
|
|
|
|
NM_004380.3(CREBBP):c.326G>A (p.Ser109Asn)
|
|
|
|
NM_004380.3(CREBBP):c.3287C>T (p.Pro1096Leu)
|
|
|
|
NM_004380.3(CREBBP):c.32A>G (p.Asn11Ser)
|
|
|
|
NM_004380.3(CREBBP):c.3410C>G (p.Thr1137Ser)
|
|
|
|
NM_004380.3(CREBBP):c.3465C>A (p.Asp1155Glu)
|
|
|
|
NM_004380.3(CREBBP):c.3473G>C (p.Trp1158Ser)
|
|
|
|
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys)
|
rs587783481
|
|
|
NM_004380.3(CREBBP):c.3506G>A (p.Arg1169His)
|
|
|
|
NM_004380.3(CREBBP):c.3629C>G (p.Thr1210Ser)
|
|
|
|
NM_004380.3(CREBBP):c.363C>A (p.Ser121Arg)
|
|
|
|
NM_004380.3(CREBBP):c.3667C>T (p.Arg1223Cys)
|
|
|
|
NM_004380.3(CREBBP):c.3673G>A (p.Ala1225Thr)
|
rs2052609627
|
|
|
NM_004380.3(CREBBP):c.3698+6C>T
|
|
|
|
NM_004380.3(CREBBP):c.3706T>A (p.Phe1236Ile)
|
|
|
|
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)
|
rs1596839714
|
|
|
NM_004380.3(CREBBP):c.3729G>C (p.Glu1243Asp)
|
|
|
|
NM_004380.3(CREBBP):c.3760G>A (p.Asp1254Asn)
|
|
|
|
NM_004380.3(CREBBP):c.3771G>T (p.Gln1257His)
|
|
|
|
NM_004380.3(CREBBP):c.3782C>A (p.Thr1261Lys)
|
|
|
|
NM_004380.3(CREBBP):c.37A>C (p.Lys13Gln)
|
rs587783484
|
|
|
NM_004380.3(CREBBP):c.381TTC[1] (p.Ser129del)
|
|
|
|
NM_004380.3(CREBBP):c.3839T>G (p.Phe1280Cys)
|
rs2151355973
|
|
|
NM_004380.3(CREBBP):c.3841G>T (p.Val1281Phe)
|
|
|
|
NM_004380.3(CREBBP):c.3844G>A (p.Asp1282Asn)
|
|
|
|
NM_004380.3(CREBBP):c.3914+17_3914+32del
|
|
|
|
NM_004380.3(CREBBP):c.3920T>C (p.Val1307Ala)
|
rs2151354200
|
|
|
NM_004380.3(CREBBP):c.3934T>G (p.Leu1312Val)
|
|
|
|
NM_004380.3(CREBBP):c.3973A>C (p.Ser1325Arg)
|
|
|
|
NM_004380.3(CREBBP):c.4043G>A (p.Arg1348His)
|
|
|
|
NM_004380.3(CREBBP):c.4090A>G (p.Ser1364Gly)
|
|
|
|
NM_004380.3(CREBBP):c.413C>G (p.Ala138Gly)
|
|
|
|
NM_004380.3(CREBBP):c.4210G>A (p.Gly1404Ser)
|
|
|
|
NM_004380.3(CREBBP):c.4252G>A (p.Gly1418Ser)
|
|
|
|
NM_004380.3(CREBBP):c.431C>T (p.Thr144Ile)
|
|
|
|
NM_004380.3(CREBBP):c.4321C>T (p.Arg1441Trp)
|
|
|
|
NM_004380.3(CREBBP):c.4364T>G (p.Ile1455Ser)
|
|
|
|
NM_004380.3(CREBBP):c.4394+3G>A
|
|
|
|
NM_004380.3(CREBBP):c.4394+5G>C
|
|
|
|
NM_004380.3(CREBBP):c.4397A>T (p.Tyr1466Phe)
|
|
|
|
NM_004380.3(CREBBP):c.4409A>C (p.His1470Pro)
|
|
|
|
NM_004380.3(CREBBP):c.4421_4422delinsTC (p.Cys1474Phe)
|
rs1555473126
|
|
|
NM_004380.3(CREBBP):c.4438GAT[1] (p.Asp1481del)
|
|
|
|
NM_004380.3(CREBBP):c.4465C>A (p.Pro1489Thr)
|
|
|
|
NM_004380.3(CREBBP):c.4465C>G (p.Pro1489Ala)
|
rs1303444757
|
|
|
NM_004380.3(CREBBP):c.44C>G (p.Ala15Gly)
|
|
|
|
NM_004380.3(CREBBP):c.4561-3C>A
|
|
|
|
NM_004380.3(CREBBP):c.4612C>T (p.Pro1538Ser)
|
|
|
|
NM_004380.3(CREBBP):c.4624G>T (p.Gly1542Cys)
|
|
|
|
NM_004380.3(CREBBP):c.4640A>G (p.Asn1547Ser)
|
|
|
|
NM_004380.3(CREBBP):c.4649A>C (p.Glu1550Ala)
|
|
|
|
NM_004380.3(CREBBP):c.4674AGA[2] (p.Glu1562del)
|
|
|
|
NM_004380.3(CREBBP):c.4721C>G (p.Thr1574Ser)
|
|
|
|
NM_004380.3(CREBBP):c.4726G>A (p.Glu1576Lys)
|
|
|
|
NM_004380.3(CREBBP):c.4728+4C>G
|
|
|
|
NM_004380.3(CREBBP):c.475G>A (p.Val159Met)
|
|
|
|
NM_004380.3(CREBBP):c.4764G>C (p.Lys1588Asn)
|
|
|
|
NM_004380.3(CREBBP):c.4767C>G (p.Asn1589Lys)
|
|
|
|
NM_004380.3(CREBBP):c.4846G>A (p.Asp1616Asn)
|
|
|
|
NM_004380.3(CREBBP):c.4894T>G (p.Phe1632Val)
|
|
|
|
NM_004380.3(CREBBP):c.490A>G (p.Ser164Gly)
|
|
|
|
NM_004380.3(CREBBP):c.4910T>C (p.Leu1637Pro)
|
|
|
|
NM_004380.3(CREBBP):c.4942C>T (p.Pro1648Ser)
|
|
|
|
NM_004380.3(CREBBP):c.4943C>A (p.Pro1648His)
|
|
|
|
NM_004380.3(CREBBP):c.4981A>C (p.Met1661Leu)
|
|
|
|
NM_004380.3(CREBBP):c.4996G>A (p.Ala1666Thr)
|
|
|
|
NM_004380.3(CREBBP):c.500C>G (p.Ala167Gly)
|
|
|
|
NM_004380.3(CREBBP):c.5011G>A (p.Ala1671Thr)
|
rs2151316910
|
|
|
NM_004380.3(CREBBP):c.5017G>T (p.Asp1673Tyr)
|
|
|
|
NM_004380.3(CREBBP):c.5025C>A (p.His1675Gln)
|
|
|
|
NM_004380.3(CREBBP):c.5051C>A (p.Ser1684Tyr)
|
rs1555471841
|
|
|
NM_004380.3(CREBBP):c.5105G>T (p.Arg1702Leu)
|
rs1275659601
|
|
|
NM_004380.3(CREBBP):c.5140G>A (p.Val1714Met)
|
|
|
|
NM_004380.3(CREBBP):c.515G>T (p.Gly172Val)
|
|
|
|
NM_004380.3(CREBBP):c.5172+4G>A
|
|
|
|
NM_004380.3(CREBBP):c.5201A>C (p.Asn1734Thr)
|
|
|
|
NM_004380.3(CREBBP):c.5234G>C (p.Trp1745Ser)
|
|
|
|
NM_004380.3(CREBBP):c.5242G>T (p.Gly1748Cys)
|
|
|
|
NM_004380.3(CREBBP):c.5301_5302insAAGAACCCCCAA (p.Ser1767_Arg1768insLysAsnProGln)
|
rs2151311865
|
|
|
NM_004380.3(CREBBP):c.5398C>T (p.Arg1800Trp)
|
|
|
|
NM_004380.3(CREBBP):c.5404G>A (p.Val1802Met)
|
|
|
|
NM_004380.3(CREBBP):c.5440G>A (p.Gly1814Arg)
|
|
|
|
NM_004380.3(CREBBP):c.5467A>T (p.Ile1823Phe)
|
|
|
|
NM_004380.3(CREBBP):c.5489C>G (p.Ala1830Gly)
|
|
|
|
NM_004380.3(CREBBP):c.5540A>G (p.Lys1847Arg)
|
|
|
|
NM_004380.3(CREBBP):c.5549T>C (p.Leu1850Pro)
|
|
|
|
NM_004380.3(CREBBP):c.5557C>G (p.Gln1853Glu)
|
|
|
|
NM_004380.3(CREBBP):c.5570_5590dup (p.Gln1863_Leu1864insHisArgLeuGlnGlnAlaGln)
|
|
|
|
NM_004380.3(CREBBP):c.5573G>C (p.Arg1858Pro)
|
rs770325046
|
|
|
NM_004380.3(CREBBP):c.5627A>G (p.Asn1876Ser)
|
|
|
|
NM_004380.3(CREBBP):c.5653C>T (p.Pro1885Ser)
|
|
|
|
NM_004380.3(CREBBP):c.5695A>G (p.Thr1899Ala)
|
|
|
|
NM_004380.3(CREBBP):c.5791A>C (p.Thr1931Pro)
|
|
|
|
NM_004380.3(CREBBP):c.5796_5804del (p.Val1933_Thr1935del)
|
|
|
|
NM_004380.3(CREBBP):c.5804C>T (p.Thr1935Ile)
|
rs2151308115
|
|
|
NM_004380.3(CREBBP):c.5828C>A (p.Pro1943Gln)
|
|
|
|
NM_004380.3(CREBBP):c.5839C>A (p.Pro1947Thr)
|
|
|
|
NM_004380.3(CREBBP):c.5873C>T (p.Ala1958Val)
|
rs986406817
|
|
|
NM_004380.3(CREBBP):c.5891G>T (p.Arg1964Leu)
|
|
|
|
NM_004380.3(CREBBP):c.5908C>G (p.Gln1970Glu)
|
|
|
|
NM_004380.3(CREBBP):c.5921G>A (p.Arg1974Gln)
|
|
|
|
NM_004380.3(CREBBP):c.5953C>T (p.Arg1985Cys)
|
|
|
|
NM_004380.3(CREBBP):c.5962A>G (p.Met1988Val)
|
|
|
|
NM_004380.3(CREBBP):c.5969_5977del (p.Thr1990_Gly1992del)
|
rs777318563
|
|
|
NM_004380.3(CREBBP):c.599A>G (p.Gln200Arg)
|
|
|
|
NM_004380.3(CREBBP):c.6028G>A (p.Gly2010Arg)
|
rs751739281
|
|
|
NM_004380.3(CREBBP):c.6050C>T (p.Pro2017Leu)
|
|
|
|
NM_004380.3(CREBBP):c.6055G>A (p.Gly2019Arg)
|
|
|
|
NM_004380.3(CREBBP):c.6071C>G (p.Ala2024Gly)
|
|
|
|
NM_004380.3(CREBBP):c.6119T>C (p.Ile2040Thr)
|
|
|
|
NM_004380.3(CREBBP):c.6124A>T (p.Met2042Leu)
|
|
|
|
NM_004380.3(CREBBP):c.613C>A (p.Gln205Lys)
|
|
|
|
NM_004380.3(CREBBP):c.6164G>C (p.Ser2055Thr)
|
|
|
|
NM_004380.3(CREBBP):c.61G>A (p.Gly21Ser)
|
|
|
|
NM_004380.3(CREBBP):c.625A>G (p.Met209Val)
|
|
|
|
NM_004380.3(CREBBP):c.6301A>G (p.Ile2101Val)
|
|
|
|
NM_004380.3(CREBBP):c.6339_6356dup (p.Gly2120_Leu2121insMetGlnProGlnProGly)
|
|
|
|
NM_004380.3(CREBBP):c.6348_6383dup (p.Gly2132_Met2133insLeuGlnSerGlnProGlyMetGlnProGlnProGly)
|
|
|
|
NM_004380.3(CREBBP):c.6361_6396del (p.Leu2121_Gly2132del)
|
|
|
|
NM_004380.3(CREBBP):c.6376G>A (p.Gly2126Ser)
|
|
|
|
NM_004380.3(CREBBP):c.6376G>T (p.Gly2126Cys)
|
|
|
|
NM_004380.3(CREBBP):c.6384_6401del (p.Gln2128_Met2133del)
|
rs772003652
|
|
|
NM_004380.3(CREBBP):c.6384_6401dup (p.Gln2128_Met2133dup)
|
rs772003652
|
|
|
NM_004380.3(CREBBP):c.6390G>C (p.Gln2130His)
|
|
|
|
NM_004380.3(CREBBP):c.6398T>C (p.Met2133Thr)
|
|
|
|
NM_004380.3(CREBBP):c.6449C>A (p.Pro2150Gln)
|
|
|
|
NM_004380.3(CREBBP):c.6451C>T (p.Arg2151Trp)
|
|
|
|
NM_004380.3(CREBBP):c.6458G>A (p.Gly2153Asp)
|
|
|
|
NM_004380.3(CREBBP):c.6517A>G (p.Ile2173Val)
|
|
|
|
NM_004380.3(CREBBP):c.652A>G (p.Arg218Gly)
|
|
|
|
NM_004380.3(CREBBP):c.6538C>T (p.Pro2180Ser)
|
|
|
|
NM_004380.3(CREBBP):c.6543C>A (p.Asn2181Lys)
|
|
|
|
NM_004380.3(CREBBP):c.6594GCA[2] (p.Gln2214_Gln2216del)
|
rs746121736
|
|
|
NM_004380.3(CREBBP):c.6594GCA[3] (p.Gln2215_Gln2216del)
|
rs746121736
|
|
|
NM_004380.3(CREBBP):c.6594GCA[6] (p.Gln2216_Gly2217insGln)
|
|
|
|
NM_004380.3(CREBBP):c.6603_6620del (p.Gln2211_Gln2216del)
|
rs2151302749
|
|
|
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup)
|
rs779647460
|
|
|
NM_004380.3(CREBBP):c.6621ACA[1] (p.Gln2216del)
|
|
|
|
NM_004380.3(CREBBP):c.6621_6644del (p.Gln2209_Gln2216del)
|
rs778507028
|
|
|
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del)
|
rs763108828
|
|
|
NM_004380.3(CREBBP):c.6625C>G (p.Gln2209Glu)
|
|
|
|
NM_004380.3(CREBBP):c.6633_6644dup (p.Gln2216_Gly2217insGlnGlnGlnGln)
|
|
|
|
NM_004380.3(CREBBP):c.6636GCA[5] (p.Gln2216_Gly2217insGln)
|
|
|
|
NM_004380.3(CREBBP):c.6646C>A (p.Gln2216Lys)
|
|
|
|
NM_004380.3(CREBBP):c.6664G>A (p.Ala2222Thr)
|
|
|
|
NM_004380.3(CREBBP):c.6668G>T (p.Gly2223Val)
|
|
|
|
NM_004380.3(CREBBP):c.6673A>C (p.Met2225Leu)
|
|
|
|
NM_004380.3(CREBBP):c.6673A>G (p.Met2225Val)
|
|
|
|
NM_004380.3(CREBBP):c.6680G>A (p.Gly2227Glu)
|
|
|
|
NM_004380.3(CREBBP):c.6730A>C (p.Met2244Leu)
|
|
|
|
NM_004380.3(CREBBP):c.6734AGC[3] (p.Gln2248del)
|
|
|
|
NM_004380.3(CREBBP):c.6734AGC[5] (p.Gln2248dup)
|
rs753283086
|
|
|
NM_004380.3(CREBBP):c.6764C>T (p.Pro2255Leu)
|
rs1191357764
|
|
|
NM_004380.3(CREBBP):c.6789G>C (p.Gln2263His)
|
|
|
|
NM_004380.3(CREBBP):c.6820A>G (p.Met2274Val)
|
rs1306100144
|
|
|
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu)
|
rs781438241
|
|
|
NM_004380.3(CREBBP):c.6871C>G (p.Leu2291Val)
|
|
|
|
NM_004380.3(CREBBP):c.6909_6910delinsTA (p.Gln2303_Gln2304delinsHisLys)
|
|
|
|
NM_004380.3(CREBBP):c.6959T>C (p.Met2320Thr)
|
|
|
|
NM_004380.3(CREBBP):c.695A>G (p.Gln232Arg)
|
rs2054805900
|
|
|
NM_004380.3(CREBBP):c.6983C>T (p.Ser2328Leu)
|
|
|
|
NM_004380.3(CREBBP):c.7023C>G (p.Asn2341Lys)
|
|
|
|
NM_004380.3(CREBBP):c.7058_7078del (p.Arg2353_Pro2359del)
|
rs766383937
|
|
|
NM_004380.3(CREBBP):c.70G>A (p.Ala24Thr)
|
|
|
|
NM_004380.3(CREBBP):c.7106C>T (p.Pro2369Leu)
|
|
|
|
NM_004380.3(CREBBP):c.7111C>A (p.Pro2371Thr)
|
|
|
|
NM_004380.3(CREBBP):c.7123C>T (p.His2375Tyr)
|
|
|
|
NM_004380.3(CREBBP):c.7136A>C (p.Gln2379Pro)
|
|
|
|
NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys)
|
rs863223334
|
|
|
NM_004380.3(CREBBP):c.721G>A (p.Glu241Lys)
|
|
|
|
NM_004380.3(CREBBP):c.7243C>T (p.Pro2415Ser)
|
|
|
|
NM_004380.3(CREBBP):c.725C>A (p.Thr242Asn)
|
|
|
|
NM_004380.3(CREBBP):c.7266C>G (p.Ser2422Arg)
|
|
|
|
NM_004380.3(CREBBP):c.7290_7301dup (p.Thr2434_Leu2435insThrGlyAspThr)
|
|
|
|
NM_004380.3(CREBBP):c.7300A>G (p.Thr2434Ala)
|
|
|
|
NM_004380.3(CREBBP):c.739T>C (p.Ser247Pro)
|
|
|
|
NM_004380.3(CREBBP):c.749T>C (p.Met250Thr)
|
|
|
|
NM_004380.3(CREBBP):c.760G>T (p.Ala254Ser)
|
|
|
|
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala)
|
rs1597053070
|
|
|
NM_004380.3(CREBBP):c.778C>A (p.Gln260Lys)
|
|
|
|
NM_004380.3(CREBBP):c.796A>G (p.Lys266Glu)
|
|
|
|
NM_004380.3(CREBBP):c.799A>G (p.Met267Val)
|
|
|
|
NM_004380.3(CREBBP):c.799A>T (p.Met267Leu)
|
|
|
|
NM_004380.3(CREBBP):c.805A>G (p.Ile269Val)
|
|
|
|
NM_004380.3(CREBBP):c.874G>A (p.Gly292Arg)
|
|
|
|
NM_004380.3(CREBBP):c.882C>A (p.Asn294Lys)
|
|
|
|
NM_004380.3(CREBBP):c.907A>G (p.Met303Val)
|
rs1567331335
|
|
|
NM_004380.3(CREBBP):c.955G>A (p.Val319Ile)
|
|
|
|
NM_004380.3(CREBBP):c.959C>G (p.Thr320Ser)
|
|
|
|
NM_004380.3(CREBBP):c.975+3A>G
|
|
|
|
NM_004629.1(FANCG):c.520_523delinsC (p.Ser174_Lys175delinsGln)
|
rs1554670417
|
|
|
NM_004629.2(FANCG):c.1017T>A (p.His339Gln)
|
rs764465471
|
|
|
NM_004629.2(FANCG):c.1019G>A (p.Cys340Tyr)
|
rs2131055383
|
|
|
NM_004629.2(FANCG):c.1032C>A (p.Ser344Arg)
|
|
|
|
NM_004629.2(FANCG):c.1045A>T (p.Ile349Leu)
|
|
|
|
NM_004629.2(FANCG):c.1070C>T (p.Thr357Met)
|
|
|
|
NM_004629.2(FANCG):c.1076+4A>G
|
rs1829084813
|
|
|
NM_004629.2(FANCG):c.107C>T (p.Thr36Ile)
|
rs1587144550
|
|
|
NM_004629.2(FANCG):c.1082G>A (p.Gly361Glu)
|
rs1276088946
|
|
|
NM_004629.2(FANCG):c.1087G>A (p.Ala363Thr)
|
|
|
|
NM_004629.2(FANCG):c.10C>G (p.Gln4Glu)
|
rs1326382443
|
|
|
NM_004629.2(FANCG):c.1100A>C (p.Tyr367Ser)
|
|
|
|
NM_004629.2(FANCG):c.1113G>A (p.Leu371=)
|
rs1829075976
|
|
|
NM_004629.2(FANCG):c.1125G>A (p.Leu375=)
|
|
|
|
NM_004629.2(FANCG):c.1126G>T (p.Asp376Tyr)
|
rs1587140699
|
|
|
NM_004629.2(FANCG):c.1129A>G (p.Ser377Gly)
|
|
|
|
NM_004629.2(FANCG):c.1143+4G>A
|
rs2131054635
|
|
|
NM_004629.2(FANCG):c.1143+5G>C
|
rs778328620
|
|
|
NM_004629.2(FANCG):c.1144-3C>T
|
|
|
|
NM_004629.2(FANCG):c.1153C>A (p.Pro385Thr)
|
rs1288516919
|
|
|
NM_004629.2(FANCG):c.1153C>G (p.Pro385Ala)
|
rs1288516919
|
|
|
NM_004629.2(FANCG):c.1155_1163del (p.Ser387_Pro389del)
|
rs1554670228
|
|
|
NM_004629.2(FANCG):c.1156C>A (p.Pro386Thr)
|
|
|
|
NM_004629.2(FANCG):c.1157C>A (p.Pro386His)
|
rs141147618
|
|
|
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg)
|
rs141147618
|
|
|
NM_004629.2(FANCG):c.1161_1163dup (p.Pro389_Gly390insPro)
|
|
|
|
NM_004629.2(FANCG):c.1199C>T (p.Ala400Val)
|
|
|
|
NM_004629.2(FANCG):c.119A>C (p.Gln40Pro)
|
|
|
|
NM_004629.2(FANCG):c.1228G>A (p.Ala410Thr)
|
rs1829068737
|
|
|
NM_004629.2(FANCG):c.123G>C (p.Gln41His)
|
|
|
|
NM_004629.2(FANCG):c.1277C>G (p.Ser426Cys)
|
|
|
|
NM_004629.2(FANCG):c.1292T>C (p.Met431Thr)
|
|
|
|
NM_004629.2(FANCG):c.1377G>A (p.Gln459=)
|
rs1587140019
|
|
|
NM_004629.2(FANCG):c.1400G>A (p.Gly467Asp)
|
|
|
|
NM_004629.2(FANCG):c.1403C>T (p.Ala468Val)
|
rs1829065605
|
|
|
NM_004629.2(FANCG):c.1408A>G (p.Lys470Glu)
|
|
|
|
NM_004629.2(FANCG):c.1433+5G>T
|
|
|
|
NM_004629.2(FANCG):c.1437C>G (p.Cys479Trp)
|
rs904322133
|
|
|
NM_004629.2(FANCG):c.1441G>A (p.Glu481Lys)
|
|
|
|
NM_004629.2(FANCG):c.1448T>C (p.Leu483Pro)
|
rs1829061760
|
|
|
NM_004629.2(FANCG):c.1460C>T (p.Thr487Ile)
|
rs2131053434
|
|
|
NM_004629.2(FANCG):c.1462C>T (p.Pro488Ser)
|
|
|
|
NM_004629.2(FANCG):c.1474G>C (p.Glu492Gln)
|
rs1018027137
|
|
|
NM_004629.2(FANCG):c.1480+5T>C
|
rs1554670176
|
|
|
NM_004629.2(FANCG):c.1480+5T>G
|
rs1554670176
|
|
|
NM_004629.2(FANCG):c.1481G>T (p.Gly494Val)
|
rs770011456
|
|
|
NM_004629.2(FANCG):c.1495T>G (p.Cys499Gly)
|
|
|
|
NM_004629.2(FANCG):c.1498G>A (p.Glu500Lys)
|
|
|
|
NM_004629.2(FANCG):c.1505G>T (p.Gly502Val)
|
|
|
|
NM_004629.2(FANCG):c.1519G>T (p.Ala507Ser)
|
|
|
|
NM_004629.2(FANCG):c.1520C>T (p.Ala507Val)
|
|
|
|
NM_004629.2(FANCG):c.1546G>A (p.Ala516Thr)
|
|
|
|
NM_004629.2(FANCG):c.1582G>A (p.Gly528Ser)
|
|
|
|
NM_004629.2(FANCG):c.1586A>G (p.Gln529Arg)
|
|
|
|
NM_004629.2(FANCG):c.1592C>T (p.Thr531Ile)
|
|
|
|
NM_004629.2(FANCG):c.1633C>G (p.Pro545Ala)
|
rs1315654777
|
|
|
NM_004629.2(FANCG):c.1635A>G (p.Pro545=)
|
|
|
|
NM_004629.2(FANCG):c.1636+5G>A
|
rs748961871
|
|
|
NM_004629.2(FANCG):c.1636+7_1636+8delinsGA
|
|
|
|
NM_004629.2(FANCG):c.1642C>G (p.Arg548Gly)
|
|
|
|
NM_004629.2(FANCG):c.1648A>G (p.Thr550Ala)
|
rs1255677446
|
|
|
NM_004629.2(FANCG):c.1651T>C (p.Tyr551His)
|
|
|
|
NM_004629.2(FANCG):c.1668G>T (p.Gln556His)
|
rs1829042320
|
|
|
NM_004629.2(FANCG):c.1708C>T (p.Leu570Phe)
|
|
|
|
NM_004629.2(FANCG):c.1718G>T (p.Arg573Met)
|
rs200466062
|
|
|
NM_004629.2(FANCG):c.1727C>T (p.Ala576Val)
|
|
|
|
NM_004629.2(FANCG):c.1745A>G (p.His582Arg)
|
rs1196002404
|
|
|
NM_004629.2(FANCG):c.175+4G>C
|
rs1060501869
|
|
|
NM_004629.2(FANCG):c.1760+4A>T
|
|
|
|
NM_004629.2(FANCG):c.1772del (p.Leu591fs)
|
|
|
|
NM_004629.2(FANCG):c.1774T>C (p.Tyr592His)
|
rs768325047
|
|
|
NM_004629.2(FANCG):c.1782A>C (p.Glu594Asp)
|
|
|
|
NM_004629.2(FANCG):c.1785C>G (p.Ser595Arg)
|
|
|
|
NM_004629.2(FANCG):c.178C>T (p.Leu60Phe)
|
rs1026058105
|
|
|
NM_004629.2(FANCG):c.1793G>A (p.Ser598Asn)
|
|
|
|
NM_004629.2(FANCG):c.1794C>G (p.Ser598Arg)
|
|
|
|
NM_004629.2(FANCG):c.1804C>T (p.Pro602Ser)
|
|
|
|
NM_004629.2(FANCG):c.1810G>C (p.Asp604His)
|
|
|
|
NM_004629.2(FANCG):c.1820C>A (p.Ala607Asp)
|
|
|
|
NM_004629.2(FANCG):c.1825del (p.Glu610fs)
|
|
|
|
NM_004629.2(FANCG):c.1837C>T (p.Arg613Trp)
|
|
|
|
NM_004629.2(FANCG):c.1852_1853del (p.Lys618fs)
|
rs532302967
|
|
|
NM_004629.2(FANCG):c.193C>T (p.Pro65Ser)
|
rs2131059151
|
|
|
NM_004629.2(FANCG):c.244G>A (p.Ala82Thr)
|
|
|
|
NM_004629.2(FANCG):c.263T>G (p.Phe88Cys)
|
|
|
|
NM_004629.2(FANCG):c.293G>T (p.Arg98Leu)
|
rs372854981
|
|
|
NM_004629.2(FANCG):c.308-12T>G
|
|
|
|
NM_004629.2(FANCG):c.322G>A (p.Glu108Lys)
|
|
|
|
NM_004629.2(FANCG):c.335_352del (p.Pro112_Gly117del)
|
|
|
|
NM_004629.2(FANCG):c.355A>C (p.Arg119=)
|
|
|
|
NM_004629.2(FANCG):c.403C>A (p.Leu135Met)
|
|
|
|
NM_004629.2(FANCG):c.410C>G (p.Ser137Cys)
|
rs1203036492
|
|
|
NM_004629.2(FANCG):c.412G>C (p.Ala138Pro)
|
|
|
|
NM_004629.2(FANCG):c.420C>A (p.His140Gln)
|
|
|
|
NM_004629.2(FANCG):c.431G>C (p.Gly144Ala)
|
rs767880403
|
|
|
NM_004629.2(FANCG):c.443C>T (p.Ala148Val)
|
rs1829121038
|
|
|
NM_004629.2(FANCG):c.448T>C (p.Trp150Arg)
|
rs202114813
|
|
|
NM_004629.2(FANCG):c.486A>T (p.Leu162Phe)
|
rs779677132
|
|
|
NM_004629.2(FANCG):c.497T>C (p.Leu166Pro)
|
|
|
|
NM_004629.2(FANCG):c.510+5T>C
|
rs921564097
|
|
|
NM_004629.2(FANCG):c.517G>A (p.Ala173Thr)
|
|
|
|
NM_004629.2(FANCG):c.525G>C (p.Lys175Asn)
|
|
|
|
NM_004629.2(FANCG):c.52G>A (p.Glu18Lys)
|
rs1829144761
|
|
|
NM_004629.2(FANCG):c.542_556del (p.Leu181_Ser185del)
|
|
|
|
NM_004629.2(FANCG):c.54A>C (p.Glu18Asp)
|
rs1563987701
|
|
|
NM_004629.2(FANCG):c.560C>A (p.Pro187Gln)
|
|
|
|
NM_004629.2(FANCG):c.563C>T (p.Ala188Val)
|
|
|
|
NM_004629.2(FANCG):c.572T>C (p.Leu191Ser)
|
|
|
|
NM_004629.2(FANCG):c.580C>T (p.Pro194Ser)
|
rs1554670412
|
|
|
NM_004629.2(FANCG):c.587C>T (p.Thr196Ile)
|
|
|
|
NM_004629.2(FANCG):c.595G>A (p.Asp199Asn)
|
|
|
|
NM_004629.2(FANCG):c.626C>T (p.Thr209Ile)
|
rs1382724792
|
|
|
NM_004629.2(FANCG):c.633T>A (p.Phe211Leu)
|
|
|
|
NM_004629.2(FANCG):c.63C>A (p.Asp21Glu)
|
|
|
|
NM_004629.2(FANCG):c.647-3C>T
|
rs1311964497
|
|
|
NM_004629.2(FANCG):c.64C>T (p.Arg22Trp)
|
|
|
|
NM_004629.2(FANCG):c.65G>A (p.Arg22Gln)
|
rs1829144428
|
|
|
NM_004629.2(FANCG):c.662T>A (p.Ile221Asn)
|
rs1829099355
|
|
|
NM_004629.2(FANCG):c.665C>T (p.Thr222Ile)
|
|
|
|
NM_004629.2(FANCG):c.690C>A (p.Ser230Arg)
|
rs1333976481
|
|
|
NM_004629.2(FANCG):c.70G>C (p.Val24Leu)
|
|
|
|
NM_004629.2(FANCG):c.714C>T (p.Gly238=)
|
|
|
|
NM_004629.2(FANCG):c.725G>A (p.Arg242Gln)
|
|
|
|
NM_004629.2(FANCG):c.743T>C (p.Val248Ala)
|
rs1221668009
|
|
|
NM_004629.2(FANCG):c.763T>C (p.Cys255Arg)
|
|
|
|
NM_004629.2(FANCG):c.764G>A (p.Cys255Tyr)
|
|
|
|
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly)
|
rs759314410
|
|
|
NM_004629.2(FANCG):c.787C>G (p.Gln263Glu)
|
rs149721361
|
|
|
NM_004629.2(FANCG):c.801G>C (p.Leu267Phe)
|
rs1482595465
|
|
|
NM_004629.2(FANCG):c.807G>C (p.Leu269Phe)
|
|
|
|
NM_004629.2(FANCG):c.833C>T (p.Ala278Val)
|
rs771395169
|
|
|
NM_004629.2(FANCG):c.865C>A (p.Leu289Ile)
|
|
|
|
NM_004629.2(FANCG):c.889A>G (p.Thr297Ala)
|
|
|
|
NM_004629.2(FANCG):c.895G>A (p.Glu299Lys)
|
|
|
|
NM_004629.2(FANCG):c.906_907delinsAT (p.Ser302Arg)
|
|
|
|
NM_004629.2(FANCG):c.916C>A (p.Leu306Ile)
|
|
|
|
NM_004629.2(FANCG):c.917T>C (p.Leu306Pro)
|
|
|
|
NM_004629.2(FANCG):c.920T>G (p.Val307Gly)
|
rs774982952
|
|
|
NM_004629.2(FANCG):c.955C>A (p.Pro319Thr)
|
|
|
|
NM_004629.2(FANCG):c.965T>G (p.Leu322Arg)
|
|
|
|
NM_004629.2(FANCG):c.978A>G (p.Glu326=)
|
|
|
|
NM_005055.5(RAPSN):c.1009C>T (p.Arg337Cys)
|
rs549232026
|
|
|
NM_005055.5(RAPSN):c.1030G>A (p.Glu344Lys)
|
|
|
|
NM_005055.5(RAPSN):c.1040C>G (p.Ala347Gly)
|
rs1252992478
|
|
|
NM_005055.5(RAPSN):c.1062G>C (p.Glu354Asp)
|
|
|
|
NM_005055.5(RAPSN):c.1069G>C (p.Glu357Gln)
|
rs1595896567
|
|
|
NM_005055.5(RAPSN):c.1092C>T (p.Gly364=)
|
rs778228002
|
|
|
NM_005055.5(RAPSN):c.110C>T (p.Ser37Leu)
|
|
|
|
NM_005055.5(RAPSN):c.1114G>A (p.Glu372Lys)
|
|
|
|
NM_005055.5(RAPSN):c.1127G>A (p.Arg376Gln)
|
rs1241928450
|
|
|
NM_005055.5(RAPSN):c.1127G>T (p.Arg376Leu)
|
|
|
|
NM_005055.5(RAPSN):c.1148C>G (p.Ser383Cys)
|
rs1197895855
|
|
|
NM_005055.5(RAPSN):c.1152C>A (p.His384Gln)
|
|
|
|
NM_005055.5(RAPSN):c.115C>G (p.Leu39Val)
|
|
|
|
NM_005055.5(RAPSN):c.115C>T (p.Leu39Phe)
|
|
|
|
NM_005055.5(RAPSN):c.1165A>C (p.Arg389=)
|
|
|
|
NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg)
|
rs768882267
|
|
|
NM_005055.5(RAPSN):c.1183G>T (p.Gly395Trp)
|
|
|
|
NM_005055.5(RAPSN):c.1210C>T (p.Arg404Cys)
|
|
|
|
NM_005055.5(RAPSN):c.125G>A (p.Arg42His)
|
|
|
|
NM_005055.5(RAPSN):c.157C>T (p.His53Tyr)
|
rs2076431469
|
|
|
NM_005055.5(RAPSN):c.173G>A (p.Arg58His)
|
rs373437117
|
|
|
NM_005055.5(RAPSN):c.175T>C (p.Tyr59His)
|
rs1555143594
|
|
|
NM_005055.5(RAPSN):c.176A>G (p.Tyr59Cys)
|
rs2153311689
|
|
|
NM_005055.5(RAPSN):c.192+5G>T
|
|
|
|
NM_005055.5(RAPSN):c.193-15C>A
|
rs45547231
|
|
|
NM_005055.5(RAPSN):c.205C>G (p.Gln69Glu)
|
rs1565688293
|
|
|
NM_005055.5(RAPSN):c.211G>A (p.Asp71Asn)
|
rs150051760
|
|
|
NM_005055.5(RAPSN):c.232G>A (p.Asp78Asn)
|
rs1198989939
|
|
|
NM_005055.5(RAPSN):c.233A>T (p.Asp78Val)
|
rs1007398586
|
|
|
NM_005055.5(RAPSN):c.248T>A (p.Leu83Gln)
|
rs2076424527
|
|
|
NM_005055.5(RAPSN):c.251A>C (p.Glu84Ala)
|
|
|
|
NM_005055.5(RAPSN):c.282G>C (p.Glu94Asp)
|
|
|
|
NM_005055.5(RAPSN):c.290G>A (p.Cys97Tyr)
|
rs2153311318
|
|
|
NM_005055.5(RAPSN):c.29T>C (p.Ile10Thr)
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|
|
|
NM_005055.5(RAPSN):c.316T>C (p.Cys106Arg)
|
rs777801296
|
|
|
NM_005055.5(RAPSN):c.325T>G (p.Cys109Gly)
|
rs2076423375
|
|
|
NM_005055.5(RAPSN):c.380T>C (p.Leu127Pro)
|
rs2153311254
|
|
|
NM_005055.5(RAPSN):c.404G>A (p.Gly135Asp)
|
|
|
|
NM_005055.5(RAPSN):c.445G>A (p.Ala149Thr)
|
rs1198813718
|
|
|
NM_005055.5(RAPSN):c.456_457inv (p.Ala153Thr)
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|
|
|
NM_005055.5(RAPSN):c.468TGA[1] (p.Asp158del)
|
rs1595902555
|
|
|
NM_005055.5(RAPSN):c.50A>C (p.Tyr17Ser)
|
|
|
|
NM_005055.5(RAPSN):c.563A>G (p.Lys188Arg)
|
rs1219888816
|
|
|
NM_005055.5(RAPSN):c.566C>G (p.Ala189Gly)
|
rs121909257
|
|
|
NM_005055.5(RAPSN):c.568G>T (p.Ala190Ser)
|
rs779881502
|
|
|
NM_005055.5(RAPSN):c.581A>G (p.Asn194Ser)
|
rs2076375665
|
|
|
NM_005055.5(RAPSN):c.595G>T (p.Gly199Cys)
|
|
|
|
NM_005055.5(RAPSN):c.600G>C (p.Trp200Cys)
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|
NM_005055.5(RAPSN):c.621G>C (p.Met207Ile)
|
rs752415268
|
|
|
NM_005055.5(RAPSN):c.668G>A (p.Gly223Asp)
|
rs2153309064
|
|
|
NM_005055.5(RAPSN):c.670_672dup (p.Ser224dup)
|
rs1555142799
|
|
|
NM_005055.5(RAPSN):c.671G>A (p.Ser224Asn)
|
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|
|
NM_005055.5(RAPSN):c.674C>T (p.Ala225Val)
|
rs1565684828
|
|
|
NM_005055.5(RAPSN):c.680A>G (p.Glu227Gly)
|
|
|
|
NM_005055.5(RAPSN):c.691-2_732dup
|
rs2076367688
|
|
|
NM_005055.5(RAPSN):c.724C>G (p.Arg242Gly)
|
|
|
|
NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp)
|
|
|
|
NM_005055.5(RAPSN):c.731T>C (p.Leu244Pro)
|
rs2076367706
|
|
|
NM_005055.5(RAPSN):c.73G>C (p.Ala25Pro)
|
rs1217675127
|
|
|
NM_005055.5(RAPSN):c.757G>A (p.Ala253Thr)
|
rs2153308622
|
|
|
NM_005055.5(RAPSN):c.770G>A (p.Arg257Gln)
|
|
|
|
NM_005055.5(RAPSN):c.775C>G (p.Arg259Gly)
|
rs150207592
|
|
|
NM_005055.5(RAPSN):c.784C>G (p.Leu262Val)
|
|
|
|
NM_005055.5(RAPSN):c.793G>A (p.Ala265Thr)
|
rs200695559
|
|
|
NM_005055.5(RAPSN):c.799C>T (p.Pro267Ser)
|
|
|
|
NM_005055.5(RAPSN):c.817A>C (p.Met273Leu)
|
|
|
|
NM_005055.5(RAPSN):c.817A>T (p.Met273Leu)
|
rs1397711588
|
|
|
NM_005055.5(RAPSN):c.832G>A (p.Glu278Lys)
|
rs1418635230
|
|
|
NM_005055.5(RAPSN):c.837C>G (p.Ile279Met)
|
rs755310896
|
|
|
NM_005055.5(RAPSN):c.838G>A (p.Gly280Arg)
|
rs1262674788
|
|
|
NM_005055.5(RAPSN):c.844C>T (p.Arg282Cys)
|
|
|
|
NM_005055.5(RAPSN):c.845G>T (p.Arg282Leu)
|
rs143668632
|
|
|
NM_005055.5(RAPSN):c.850G>A (p.Gly284Arg)
|
rs1294627986
|
|
|
NM_005055.5(RAPSN):c.902C>T (p.Ala301Val)
|
|
|
|
NM_005055.5(RAPSN):c.909C>G (p.Asp303Glu)
|
|
|
|
NM_005055.5(RAPSN):c.912G>A (p.Lys304=)
|
rs1273342588
|
|
|
NM_005055.5(RAPSN):c.919G>C (p.Asp307His)
|
rs1565683625
|
|
|
NM_005055.5(RAPSN):c.926T>G (p.Ile309Ser)
|
|
|
|
NM_005055.5(RAPSN):c.934G>A (p.Ala312Thr)
|
|
|
|
NM_005055.5(RAPSN):c.935C>T (p.Ala312Val)
|
|
|
|
NM_005055.5(RAPSN):c.988T>C (p.Cys330Arg)
|
rs2076338568
|
|
|
NM_005055.5(RAPSN):c.996C>G (p.Ser332Arg)
|
rs1013180221
|
|
|
NM_005055.5(RAPSN):c.997G>A (p.Glu333Lys)
|
|
|
|
NM_005055.5(RAPSN):c.997G>C (p.Glu333Gln)
|
rs201947904
|
|
|
NM_005105.5(RBM8A):c.404A>G (p.Asn135Ser)
|
|
|
|
NM_005105.5(RBM8A):c.479G>A (p.Arg160Lys)
|
rs2101877556
|
|
|
NM_005236.3(ERCC4):c.1003A>G (p.Met335Val)
|
|
|
|
NM_005236.3(ERCC4):c.100G>A (p.Val34Met)
|
|
|
|
NM_005236.3(ERCC4):c.1027G>A (p.Val343Ile)
|
rs755219554
|
|
|
NM_005236.3(ERCC4):c.1031A>G (p.Tyr344Cys)
|
rs145851520
|
|
|
NM_005236.3(ERCC4):c.1045G>A (p.Ala349Thr)
|
rs201410515
|
|
|
NM_005236.3(ERCC4):c.1066A>G (p.Lys356Glu)
|
|
|
|
NM_005236.3(ERCC4):c.106G>C (p.Ala36Pro)
|
|
|
|
NM_005236.3(ERCC4):c.1114G>A (p.Glu372Lys)
|
rs2032238318
|
|
|
NM_005236.3(ERCC4):c.1148C>T (p.Ala383Val)
|
|
|
|
NM_005236.3(ERCC4):c.1204G>C (p.Gly402Arg)
|
|
|
|
NM_005236.3(ERCC4):c.1235G>A (p.Ser412Asn)
|
|
|
|
NM_005236.3(ERCC4):c.1243C>G (p.Arg415Gly)
|
rs374470560
|
|
|
NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val)
|
|
|
|
NM_005236.3(ERCC4):c.1289C>A (p.Ala430Asp)
|
|
|
|
NM_005236.3(ERCC4):c.130C>T (p.Leu44Phe)
|
rs1596616623
|
|
|
NM_005236.3(ERCC4):c.1339G>C (p.Glu447Gln)
|
|
|
|
NM_005236.3(ERCC4):c.1346T>C (p.Val449Ala)
|
|
|
|
NM_005236.3(ERCC4):c.1351A>G (p.Met451Val)
|
|
|
|
NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys)
|
|
|
|
NM_005236.3(ERCC4):c.1376C>T (p.Ser459Leu)
|
|
|
|
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile)
|
rs780488548
|
|
|
NM_005236.3(ERCC4):c.1400A>G (p.Lys467Arg)
|
|
|
|
NM_005236.3(ERCC4):c.1404A>C (p.Arg468Ser)
|
|
|
|
NM_005236.3(ERCC4):c.1463A>G (p.Lys488Arg)
|
rs886051664
|
|
|
NM_005236.3(ERCC4):c.1484C>T (p.Thr495Ile)
|
rs2141607404
|
|
|
NM_005236.3(ERCC4):c.1522G>A (p.Gly508Arg)
|
rs2141607524
|
|
|
NM_005236.3(ERCC4):c.152T>G (p.Leu51Arg)
|
|
|
|
NM_005236.3(ERCC4):c.1558_1563del (p.Ser520_Ser521del)
|
rs2141607630
|
|
|
NM_005236.3(ERCC4):c.1559G>A (p.Ser520Asn)
|
|
|
|
NM_005236.3(ERCC4):c.158G>A (p.Cys53Tyr)
|
|
|
|
NM_005236.3(ERCC4):c.1622A>G (p.Asp541Gly)
|
|
|
|
NM_005236.3(ERCC4):c.1630T>C (p.Phe544Leu)
|
|
|
|
NM_005236.3(ERCC4):c.1633G>C (p.Gly545Arg)
|
|
|
|
NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val)
|
rs376216413
|
|
|
NM_005236.3(ERCC4):c.167C>T (p.Ala56Val)
|
|
|
|
NM_005236.3(ERCC4):c.1681A>T (p.Ser561Cys)
|
rs1443581940
|
|
|
NM_005236.3(ERCC4):c.1691A>G (p.Tyr564Cys)
|
rs765254949
|
|
|
NM_005236.3(ERCC4):c.1693G>A (p.Ala565Thr)
|
|
|
|
NM_005236.3(ERCC4):c.1694C>T (p.Ala565Val)
|
|
|
|
NM_005236.3(ERCC4):c.1732G>A (p.Val578Met)
|
|
|
|
NM_005236.3(ERCC4):c.1739T>C (p.Leu580Pro)
|
rs2032274770
|
|
|
NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile)
|
|
|
|
NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala)
|
|
|
|
NM_005236.3(ERCC4):c.1787C>T (p.Ala596Val)
|
|
|
|
NM_005236.3(ERCC4):c.1799G>A (p.Gly600Glu)
|
rs1336284412
|
|
|
NM_005236.3(ERCC4):c.1805C>T (p.Pro602Leu)
|
|
|
|
NM_005236.3(ERCC4):c.1817A>T (p.Tyr606Phe)
|
|
|
|
NM_005236.3(ERCC4):c.1828T>C (p.Tyr610His)
|
|
|
|
NM_005236.3(ERCC4):c.1840A>G (p.Thr614Ala)
|
|
|
|
NM_005236.3(ERCC4):c.1852C>T (p.Arg618Cys)
|
|
|
|
NM_005236.3(ERCC4):c.1853G>T (p.Arg618Leu)
|
|
|
|
NM_005236.3(ERCC4):c.1856A>G (p.Tyr619Cys)
|
|
|
|
NM_005236.3(ERCC4):c.1870C>A (p.Arg624=)
|
rs766395322
|
|
|
NM_005236.3(ERCC4):c.1870C>T (p.Arg624Trp)
|
rs766395322
|
|
|
NM_005236.3(ERCC4):c.187A>C (p.Asn63His)
|
rs1203098300
|
|
|
NM_005236.3(ERCC4):c.1883A>C (p.Glu628Ala)
|
|
|
|
NM_005236.3(ERCC4):c.1900A>G (p.Ile634Val)
|
|
|
|
NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met)
|
|
|
|
NM_005236.3(ERCC4):c.1903A>C (p.Arg635=)
|
|
|
|
NM_005236.3(ERCC4):c.190A>T (p.Thr64Ser)
|
|
|
|
NM_005236.3(ERCC4):c.1921G>C (p.Val641Leu)
|
rs770771750
|
|
|
NM_005236.3(ERCC4):c.1923_1924delinsGT (p.Val642Phe)
|
|
|
|
NM_005236.3(ERCC4):c.1997C>T (p.Ser666Phe)
|
|
|
|
NM_005236.3(ERCC4):c.1999A>G (p.Thr667Ala)
|
|
|
|
NM_005236.3(ERCC4):c.199G>A (p.Ala67Thr)
|
|
|
|
NM_005236.3(ERCC4):c.19G>A (p.Ala7Thr)
|
rs771117594
|
|
|
NM_005236.3(ERCC4):c.2000C>A (p.Thr667Asn)
|
|
|
|
NM_005236.3(ERCC4):c.2026G>C (p.Glu676Gln)
|
rs2141619663
|
|
|
NM_005236.3(ERCC4):c.2050A>G (p.Ile684Val)
|
|
|
|
NM_005236.3(ERCC4):c.2062A>T (p.Met688Leu)
|
|
|
|
NM_005236.3(ERCC4):c.207+6G>T
|
rs2141937518
|
|
|
NM_005236.3(ERCC4):c.2075G>A (p.Arg692Gln)
|
|
|
|
NM_005236.3(ERCC4):c.208-3T>C
|
rs773956647
|
|
|
NM_005236.3(ERCC4):c.208-3T>G
|
|
|
|
NM_005236.3(ERCC4):c.208G>A (p.Glu70Lys)
|
|
|
|
NM_005236.3(ERCC4):c.20C>T (p.Ala7Val)
|
|
|
|
NM_005236.3(ERCC4):c.2104C>T (p.Arg702Trp)
|
|
|
|
NM_005236.3(ERCC4):c.2108G>T (p.Gly703Val)
|
rs774900622
|
|
|
NM_005236.3(ERCC4):c.2110A>G (p.Ile704Val)
|
|
|
|
NM_005236.3(ERCC4):c.2114A>T (p.Asp705Val)
|
rs2032542117
|
|
|
NM_005236.3(ERCC4):c.2123C>T (p.Pro708Leu)
|
|
|
|
NM_005236.3(ERCC4):c.2129C>A (p.Thr710Asn)
|
rs1442567731
|
|
|
NM_005236.3(ERCC4):c.2143G>T (p.Asp715Tyr)
|
rs2141619950
|
|
|
NM_005236.3(ERCC4):c.214T>C (p.Phe72Leu)
|
rs2141939855
|
|
|
NM_005236.3(ERCC4):c.2177G>A (p.Arg726His)
|
rs368096448
|
|
|
NM_005236.3(ERCC4):c.2191G>A (p.Asp731Asn)
|
|
|
|
NM_005236.3(ERCC4):c.2212A>G (p.Asn738Asp)
|
rs2032546331
|
|
|
NM_005236.3(ERCC4):c.2227A>G (p.Ser743Gly)
|
|
|
|
NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val)
|
rs756050702
|
|
|
NM_005236.3(ERCC4):c.2252A>G (p.Tyr751Cys)
|
|
|
|
NM_005236.3(ERCC4):c.2277T>G (p.Ile759Met)
|
|
|
|
NM_005236.3(ERCC4):c.2308A>T (p.Thr770Ser)
|
rs2032550979
|
|
|
NM_005236.3(ERCC4):c.2317G>C (p.Gly773Arg)
|
|
|
|
NM_005236.3(ERCC4):c.2369T>C (p.Leu790Pro)
|
|
|
|
NM_005236.3(ERCC4):c.2369T>G (p.Leu790Arg)
|
|
|
|
NM_005236.3(ERCC4):c.2377C>G (p.Leu793Val)
|
|
|
|
NM_005236.3(ERCC4):c.2386C>A (p.Pro796Thr)
|
|
|
|
NM_005236.3(ERCC4):c.2387C>T (p.Pro796Leu)
|
rs1303709169
|
|
|
NM_005236.3(ERCC4):c.2419C>A (p.His807Asn)
|
|
|
|
NM_005236.3(ERCC4):c.2448_2449insCAACAAAGCACAAAG (p.Leu816_Lys817insGlnGlnSerThrLys)
|
|
|
|
NM_005236.3(ERCC4):c.2449A>C (p.Lys817Gln)
|
|
|
|
NM_005236.3(ERCC4):c.2471A>T (p.Asp824Val)
|
|
|
|
NM_005236.3(ERCC4):c.2474C>T (p.Ala825Val)
|
rs765253522
|
|
|
NM_005236.3(ERCC4):c.247C>T (p.His83Tyr)
|
|
|
|
NM_005236.3(ERCC4):c.2480C>A (p.Thr827Lys)
|
|
|
|
NM_005236.3(ERCC4):c.2491A>G (p.Ile831Val)
|
|
|
|
NM_005236.3(ERCC4):c.2505_2506inv (p.Glu836Lys)
|
|
|
|
NM_005236.3(ERCC4):c.250C>T (p.Leu84Phe)
|
rs2141939932
|
|
|
NM_005236.3(ERCC4):c.2524G>T (p.Glu842Ter)
|
|
|
|
NM_005236.3(ERCC4):c.2539G>T (p.Gly847Cys)
|
|
|
|
NM_005236.3(ERCC4):c.2575A>T (p.Asn859Tyr)
|
rs2032559742
|
|
|
NM_005236.3(ERCC4):c.2585A>G (p.Asn862Ser)
|
|
|
|
NM_005236.3(ERCC4):c.25C>G (p.Arg9Gly)
|
|
|
|
NM_005236.3(ERCC4):c.2603A>G (p.His868Arg)
|
rs368064765
|
|
|
NM_005236.3(ERCC4):c.2612A>G (p.Lys871Arg)
|
|
|
|
NM_005236.3(ERCC4):c.2619C>G (p.Ile873Met)
|
rs759042927
|
|
|
NM_005236.3(ERCC4):c.2620G>A (p.Ala874Thr)
|
rs2032561804
|
|
|
NM_005236.3(ERCC4):c.2621C>T (p.Ala874Val)
|
rs766946690
|
|
|
NM_005236.3(ERCC4):c.262G>A (p.Val88Ile)
|
|
|
|
NM_005236.3(ERCC4):c.2633C>T (p.Ala878Val)
|
|
|
|
NM_005236.3(ERCC4):c.2634_2637del (p.Leu879fs)
|
|
|
|
NM_005236.3(ERCC4):c.2641C>G (p.Gln881Glu)
|
|
|
|
NM_005236.3(ERCC4):c.2650C>T (p.Leu884Phe)
|
|
|
|
NM_005236.3(ERCC4):c.2654C>T (p.Thr885Met)
|
|
|
|
NM_005236.3(ERCC4):c.2656A>G (p.Ser886Gly)
|
|
|
|
NM_005236.3(ERCC4):c.2674G>A (p.Ala892Thr)
|
rs2141621448
|
|
|
NM_005236.3(ERCC4):c.26G>C (p.Arg9Pro)
|
rs1214498950
|
|
|
NM_005236.3(ERCC4):c.2707A>G (p.Thr903Ala)
|
|
|
|
NM_005236.3(ERCC4):c.2738A>G (p.Lys913Arg)
|
rs2032565777
|
|
|
NM_005236.3(ERCC4):c.2749T>C (p.Ter917Arg)
|
|
|
|
NM_005236.3(ERCC4):c.278C>T (p.Thr93Ile)
|
|
|
|
NM_005236.3(ERCC4):c.293A>G (p.Tyr98Cys)
|
|
|
|
NM_005236.3(ERCC4):c.2T>G (p.Met1Arg)
|
|
|
|
NM_005236.3(ERCC4):c.313G>C (p.Gly105Arg)
|
|
|
|
NM_005236.3(ERCC4):c.314G>C (p.Gly105Ala)
|
|
|
|
NM_005236.3(ERCC4):c.317T>G (p.Val106Gly)
|
|
|
|
NM_005236.3(ERCC4):c.321A>G (p.Ile107Met)
|
|
|
|
NM_005236.3(ERCC4):c.336G>T (p.Arg112Ser)
|
|
|
|
NM_005236.3(ERCC4):c.34A>G (p.Met12Val)
|
|
|
|
NM_005236.3(ERCC4):c.37G>T (p.Ala13Ser)
|
rs374243778
|
|
|
NM_005236.3(ERCC4):c.404G>A (p.Arg135Lys)
|
rs772606808
|
|
|
NM_005236.3(ERCC4):c.409C>G (p.His137Asp)
|
|
|
|
NM_005236.3(ERCC4):c.413G>A (p.Arg138Lys)
|
rs1567243693
|
|
|
NM_005236.3(ERCC4):c.421G>A (p.Glu141Lys)
|
|
|
|
NM_005236.3(ERCC4):c.431A>G (p.Gln144Arg)
|
|
|
|
NM_005236.3(ERCC4):c.449G>C (p.Arg150Pro)
|
|
|
|
NM_005236.3(ERCC4):c.457C>T (p.Arg153Cys)
|
rs1307031587
|
|
|
NM_005236.3(ERCC4):c.458G>A (p.Arg153His)
|
|
|
|
NM_005236.3(ERCC4):c.475G>A (p.Gly159Ser)
|
rs181993439
|
|
|
NM_005236.3(ERCC4):c.484A>G (p.Lys162Glu)
|
rs2032078220
|
|
|
NM_005236.3(ERCC4):c.499A>G (p.Asn167Asp)
|
rs2032078374
|
|
|
NM_005236.3(ERCC4):c.4G>C (p.Glu2Gln)
|
rs373789508
|
|
|
NM_005236.3(ERCC4):c.514G>C (p.Asp172His)
|
rs1405781900
|
|
|
NM_005236.3(ERCC4):c.529C>T (p.His177Tyr)
|
|
|
|
NM_005236.3(ERCC4):c.532G>A (p.Val178Met)
|
|
|
|
NM_005236.3(ERCC4):c.550A>G (p.Asn184Asp)
|
|
|
|
NM_005236.3(ERCC4):c.652A>G (p.Met218Val)
|
|
|
|
NM_005236.3(ERCC4):c.661A>G (p.Thr221Ala)
|
|
|
|
NM_005236.3(ERCC4):c.671C>T (p.Ala224Val)
|
rs2141946160
|
|
|
NM_005236.3(ERCC4):c.685A>G (p.Ile229Val)
|
|
|
|
NM_005236.3(ERCC4):c.712A>G (p.Lys238Glu)
|
rs2032105702
|
|
|
NM_005236.3(ERCC4):c.730A>C (p.Asn244His)
|
|
|
|
NM_005236.3(ERCC4):c.736T>A (p.Ser246Thr)
|
|
|
|
NM_005236.3(ERCC4):c.73G>C (p.Glu25Gln)
|
|
|
|
NM_005236.3(ERCC4):c.745G>T (p.Val249Leu)
|
|
|
|
NM_005236.3(ERCC4):c.751G>A (p.Asp251Asn)
|
rs2032106630
|
|
|
NM_005236.3(ERCC4):c.769G>T (p.Ala257Ser)
|
rs962536419
|
|
|
NM_005236.3(ERCC4):c.776G>A (p.Gly259Glu)
|
|
|
|
NM_005236.3(ERCC4):c.790A>G (p.Lys264Glu)
|
rs1463126902
|
|
|
NM_005236.3(ERCC4):c.800G>A (p.Arg267His)
|
rs143479220
|
|
|
NM_005236.3(ERCC4):c.800G>T (p.Arg267Leu)
|
rs143479220
|
|
|
NM_005236.3(ERCC4):c.811G>T (p.Asp271Tyr)
|
|
|
|
NM_005236.3(ERCC4):c.820T>C (p.Trp274Arg)
|
|
|
|
NM_005236.3(ERCC4):c.823C>T (p.His275Tyr)
|
rs2141948413
|
|
|
NM_005236.3(ERCC4):c.83A>G (p.Asp28Gly)
|
|
|
|
NM_005236.3(ERCC4):c.848C>A (p.Ser283Tyr)
|
|
|
|
NM_005236.3(ERCC4):c.870A>G (p.Ile290Met)
|
rs1237587281
|
|
|
NM_005236.3(ERCC4):c.889T>A (p.Tyr297Asn)
|
rs778480216
|
|
|
NM_005236.3(ERCC4):c.890A>G (p.Tyr297Cys)
|
rs996851583
|
|
|
NM_005236.3(ERCC4):c.90C>G (p.Asp30Glu)
|
|
|
|
NM_005236.3(ERCC4):c.913A>T (p.Thr305Ser)
|
rs772385411
|
|
|
NM_005236.3(ERCC4):c.924T>A (p.Asn308Lys)
|
|
|
|
NM_005236.3(ERCC4):c.937C>G (p.Leu313Val)
|
|
|
|
NM_005236.3(ERCC4):c.950A>G (p.Glu317Gly)
|
rs773938568
|
|
|
NM_005236.3(ERCC4):c.985C>T (p.Leu329Phe)
|
|
|
|
NM_005445.4(SMC3):c.1037A>G (p.Glu346Gly)
|
|
|
|
NM_005445.4(SMC3):c.1229A>G (p.Lys410Arg)
|
|
|
|
NM_005445.4(SMC3):c.125T>C (p.Phe42Ser)
|
rs1554881901
|
|
|
NM_005445.4(SMC3):c.131-3C>T
|
|
|
|
NM_005445.4(SMC3):c.1410-11_1410-6del
|
|
|
|
NM_005445.4(SMC3):c.1445C>A (p.Ala482Glu)
|
|
|
|
NM_005445.4(SMC3):c.1451C>G (p.Ala484Gly)
|
rs758758728
|
|
|
NM_005445.4(SMC3):c.1480_1481dup (p.Gln494fs)
|
|
|
|
NM_005445.4(SMC3):c.15+5_15+12del
|
|
|
|
NM_005445.4(SMC3):c.1505G>A (p.Gly502Glu)
|
|
|
|
NM_005445.4(SMC3):c.1509+4G>C
|
|
|
|
NM_005445.4(SMC3):c.1509+5G>C
|
|
|
|
NM_005445.4(SMC3):c.1538A>G (p.Asn513Ser)
|
|
|
|
NM_005445.4(SMC3):c.1772A>C (p.Asn591Thr)
|
|
|
|
NM_005445.4(SMC3):c.1783G>A (p.Val595Ile)
|
|
|
|
NM_005445.4(SMC3):c.1799A>G (p.Tyr600Cys)
|
rs780811321
|
|
|
NM_005445.4(SMC3):c.181C>T (p.Arg61Trp)
|
rs866273473
|
|
|
NM_005445.4(SMC3):c.2024G>A (p.Arg675Gln)
|
rs2134745310
|
|
|
NM_005445.4(SMC3):c.2056GAA[2] (p.Glu688del)
|
rs755507236
|
|
|
NM_005445.4(SMC3):c.2099T>C (p.Leu700Pro)
|
rs2134745404
|
|
|
NM_005445.4(SMC3):c.2102G>A (p.Arg701His)
|
|
|
|
NM_005445.4(SMC3):c.2213A>C (p.Glu738Ala)
|
rs2134747764
|
|
|
NM_005445.4(SMC3):c.2268+5G>C
|
|
|
|
NM_005445.4(SMC3):c.2273G>A (p.Arg758His)
|
|
|
|
NM_005445.4(SMC3):c.2530G>T (p.Glu844Ter)
|
|
|
|
NM_005445.4(SMC3):c.2558C>G (p.Thr853Arg)
|
|
|
|
NM_005445.4(SMC3):c.263G>A (p.Arg88Gln)
|
|
|
|
NM_005445.4(SMC3):c.2651A>G (p.Asp884Gly)
|
|
|
|
NM_005445.4(SMC3):c.2707C>T (p.Arg903Cys)
|
|
|
|
NM_005445.4(SMC3):c.2739T>G (p.Asp913Glu)
|
|
|
|
NM_005445.4(SMC3):c.2892+3T>A
|
|
|
|
NM_005445.4(SMC3):c.2899C>T (p.Arg967Ter)
|
|
|
|
NM_005445.4(SMC3):c.3105+3A>T
|
|
|
|
NM_005445.4(SMC3):c.3168G>A (p.Val1056=)
|
|
|
|
NM_005445.4(SMC3):c.3183T>A (p.Asp1061Glu)
|
|
|
|
NM_005445.4(SMC3):c.3212_3214del (p.Gly1071del)
|
|
|
|
NM_005445.4(SMC3):c.3231T>A (p.Ser1077Arg)
|
|
|
|
NM_005445.4(SMC3):c.3263C>G (p.Pro1088Arg)
|
|
|
|
NM_005445.4(SMC3):c.3298-17_3298-13del
|
|
|
|
NM_005445.4(SMC3):c.3400T>C (p.Cys1134Arg)
|
rs1554884207
|
|
|
NM_005445.4(SMC3):c.3488A>G (p.Glu1163Gly)
|
rs1861413861
|
|
|
NM_005445.4(SMC3):c.351-4A>G
|
|
|
|
NM_005445.4(SMC3):c.3520A>G (p.Thr1174Ala)
|
|
|
|
NM_005445.4(SMC3):c.3530C>G (p.Pro1177Arg)
|
|
|
|
NM_005445.4(SMC3):c.386G>T (p.Gly129Val)
|
|
|
|
NM_005445.4(SMC3):c.424G>A (p.Gly142Arg)
|
rs1554882316
|
|
|
NM_005445.4(SMC3):c.429+16G>T
|
|
|
|
NM_005445.4(SMC3):c.429+9A>G
|
|
|
|
NM_005445.4(SMC3):c.430-3T>C
|
|
|
|
NM_005445.4(SMC3):c.538A>C (p.Lys180Gln)
|
|
|
|
NM_005445.4(SMC3):c.547+6A>G
|
|
|
|
NM_005445.4(SMC3):c.624A>C (p.Glu208Asp)
|
|
|
|
NM_005445.4(SMC3):c.661C>T (p.Arg221Ter)
|
rs1564789897
|
|
|
NM_005445.4(SMC3):c.723+6A>G
|
|
|
|
NM_005445.4(SMC3):c.786T>A (p.Asp262Glu)
|
|
|
|
NM_005445.4(SMC3):c.8T>G (p.Ile3Arg)
|
|
|
|
NM_005445.4(SMC3):c.913T>G (p.Leu305Val)
|
|
|
|
NM_005445.4(SMC3):c.993G>C (p.Gln331His)
|
|
|
|
NM_005592.4(MUSK):c.1024G>A (p.Ala342Thr)
|
rs2077509392
|
|
|
NM_005592.4(MUSK):c.1036G>C (p.Glu346Gln)
|
|
|
|
NM_005592.4(MUSK):c.1038G>C (p.Glu346Asp)
|
rs764142979
|
|
|
NM_005592.4(MUSK):c.1052T>C (p.Leu351Pro)
|
|
|
|
NM_005592.4(MUSK):c.1099C>G (p.Arg367Gly)
|
rs201014623
|
|
|
NM_005592.4(MUSK):c.1100G>C (p.Arg367Pro)
|
rs1038479586
|
|
|
NM_005592.4(MUSK):c.1114_1115delinsAA (p.Ala372Asn)
|
|
|
|
NM_005592.4(MUSK):c.1184G>T (p.Arg395Ile)
|
rs2131956652
|
|
|
NM_005592.4(MUSK):c.119T>C (p.Leu40Ser)
|
|
|
|
NM_005592.4(MUSK):c.1220C>T (p.Ala407Val)
|
|
|
|
NM_005592.4(MUSK):c.1235T>C (p.Val412Ala)
|
|
|
|
NM_005592.4(MUSK):c.1238T>C (p.Met413Thr)
|
rs930182416
|
|
|
NM_005592.4(MUSK):c.1277T>A (p.Met426Lys)
|
rs368044285
|
|
|
NM_005592.4(MUSK):c.129A>T (p.Glu43Asp)
|
rs2131656584
|
|
|
NM_005592.4(MUSK):c.1324T>A (p.Trp442Arg)
|
|
|
|
NM_005592.4(MUSK):c.1339T>C (p.Cys447Arg)
|
|
|
|
NM_005592.4(MUSK):c.1343C>A (p.Ala448Asp)
|
|
|
|
NM_005592.4(MUSK):c.1384+5G>A
|
rs536529195
|
|
|
NM_005592.4(MUSK):c.13G>A (p.Val5Ile)
|
rs765874906
|
|
|
NM_005592.4(MUSK):c.1420G>A (p.Asp474Asn)
|
|
|
|
NM_005592.4(MUSK):c.1440CTC[2] (p.Ser485del)
|
|
|
|
NM_005592.4(MUSK):c.1462G>T (p.Val488Phe)
|
|
|
|
NM_005592.4(MUSK):c.1472C>T (p.Thr491Ile)
|
rs2132023110
|
|
|
NM_005592.4(MUSK):c.1490T>A (p.Ile497Lys)
|
|
|
|
NM_005592.4(MUSK):c.1503_1504insACC (p.Met501_Ser502insThr)
|
rs886043719
|
|
|
NM_005592.4(MUSK):c.1540A>C (p.Thr514Pro)
|
|
|
|
NM_005592.4(MUSK):c.1543C>G (p.Leu515Val)
|
rs1554755295
|
|
|
NM_005592.4(MUSK):c.1556GAA[2] (p.Arg521del)
|
rs774582687
|
|
|
NM_005592.4(MUSK):c.1606C>G (p.Leu536Val)
|
|
|
|
NM_005592.4(MUSK):c.1613C>G (p.Thr538Arg)
|
rs928134595
|
|
|
NM_005592.4(MUSK):c.1673C>G (p.Pro558Arg)
|
rs369745938
|
|
|
NM_005592.4(MUSK):c.1686C>A (p.Asn562Lys)
|
|
|
|
NM_005592.4(MUSK):c.1706A>T (p.Glu569Val)
|
rs2077843836
|
|
|
NM_005592.4(MUSK):c.1711C>A (p.Pro571Thr)
|
|
|
|
NM_005592.4(MUSK):c.1742T>A (p.Ile581Asn)
|
|
|
|
NM_005592.4(MUSK):c.1751G>A (p.Gly584Glu)
|
|
|
|
NM_005592.4(MUSK):c.1753G>C (p.Ala585Pro)
|
rs779231840
|
|
|
NM_005592.4(MUSK):c.1778G>C (p.Arg593Thr)
|
|
|
|
NM_005592.4(MUSK):c.1784C>G (p.Pro595Arg)
|
rs2077898016
|
|
|
NM_005592.4(MUSK):c.1795C>T (p.Pro599Ser)
|
rs2077898173
|
|
|
NM_005592.4(MUSK):c.1804C>T (p.Pro602Ser)
|
rs565780053
|
|
|
NM_005592.4(MUSK):c.1813A>T (p.Met605Leu)
|
rs758777089
|
|
|
NM_005592.4(MUSK):c.1815G>A (p.Met605Ile)
|
rs766640370
|
|
|
NM_005592.4(MUSK):c.1841A>C (p.Glu614Ala)
|
|
|
|
NM_005592.4(MUSK):c.1847C>G (p.Ser616Trp)
|
rs181652070
|
|
|
NM_005592.4(MUSK):c.1853A>G (p.Asp618Gly)
|
|
|
|
NM_005592.4(MUSK):c.1856T>C (p.Met619Thr)
|
rs755642035
|
|
|
NM_005592.4(MUSK):c.1865A>T (p.Asp622Val)
|
rs1292312575
|
|
|
NM_005592.4(MUSK):c.1874G>A (p.Arg625Lys)
|
rs2077900685
|
|
|
NM_005592.4(MUSK):c.1896A>T (p.Glu632Asp)
|
|
|
|
NM_005592.4(MUSK):c.1898T>C (p.Phe633Ser)
|
rs1161007370
|
|
|
NM_005592.4(MUSK):c.1906C>A (p.Pro636Thr)
|
|
|
|
NM_005592.4(MUSK):c.1912A>C (p.Ile638Leu)
|
|
|
|
NM_005592.4(MUSK):c.1930G>C (p.Val644Leu)
|
rs2132065378
|
|
|
NM_005592.4(MUSK):c.2023G>A (p.Val675Met)
|
|
|
|
NM_005592.4(MUSK):c.2065G>A (p.Val689Ile)
|
|
|
|
NM_005592.4(MUSK):c.207A>T (p.Lys69Asn)
|
rs2076206381
|
|
|
NM_005592.4(MUSK):c.2090T>A (p.Leu697His)
|
|
|
|
NM_005592.4(MUSK):c.2125G>A (p.Val709Met)
|
rs2132066572
|
|
|
NM_005592.4(MUSK):c.2132C>G (p.Ala711Gly)
|
rs758510906
|
|
|
NM_005592.4(MUSK):c.2155C>T (p.Arg719Cys)
|
rs769211968
|
|
|
NM_005592.4(MUSK):c.218C>T (p.Thr73Ile)
|
rs750101214
|
|
|
NM_005592.4(MUSK):c.2208C>G (p.Asn736Lys)
|
rs770373727
|
|
|
NM_005592.4(MUSK):c.2213T>C (p.Val738Ala)
|
|
|
|
NM_005592.4(MUSK):c.2249T>A (p.Ile750Asn)
|
rs781506865
|
|
|
NM_005592.4(MUSK):c.2260G>A (p.Asp754Asn)
|
rs2078078707
|
|
|
NM_005592.4(MUSK):c.2262C>G (p.Asp754Glu)
|
|
|
|
NM_005592.4(MUSK):c.2263_2268del (p.Tyr755_Tyr756del)
|
rs1588054209
|
|
|
NM_005592.4(MUSK):c.2291T>C (p.Ile764Thr)
|
rs1554757211
|
|
|
NM_005592.4(MUSK):c.2314G>A (p.Glu772Lys)
|
rs2132067786
|
|
|
NM_005592.4(MUSK):c.2350G>A (p.Asp784Asn)
|
rs2132067949
|
|
|
NM_005592.4(MUSK):c.2352T>A (p.Asp784Glu)
|
|
|
|
NM_005592.4(MUSK):c.2411A>G (p.Tyr804Cys)
|
rs533353279
|
|
|
NM_005592.4(MUSK):c.2423A>G (p.His808Arg)
|
rs2078084308
|
|
|
NM_005592.4(MUSK):c.243G>T (p.Gly81=)
|
rs1587897093
|
|
|
NM_005592.4(MUSK):c.2440T>G (p.Tyr814Asp)
|
rs2078084758
|
|
|
NM_005592.4(MUSK):c.2443G>A (p.Val815Met)
|
rs551520537
|
|
|
NM_005592.4(MUSK):c.2447G>T (p.Arg816Leu)
|
|
|
|
NM_005592.4(MUSK):c.2485G>A (p.Val829Met)
|
rs578430
|
|
|
NM_005592.4(MUSK):c.2501T>C (p.Leu834Pro)
|
rs2078086619
|
|
|
NM_005592.4(MUSK):c.2517G>C (p.Trp839Cys)
|
rs1011593420
|
|
|
NM_005592.4(MUSK):c.253A>G (p.Thr85Ala)
|
rs2131669584
|
|
|
NM_005592.4(MUSK):c.259C>G (p.Leu87Val)
|
rs1198739112
|
|
|
NM_005592.4(MUSK):c.263G>A (p.Ser88Asn)
|
|
|
|
NM_005592.4(MUSK):c.348A>C (p.Gln116His)
|
rs2131670048
|
|
|
NM_005592.4(MUSK):c.360A>C (p.Lys120Asn)
|
rs1318631379
|
|
|
NM_005592.4(MUSK):c.361C>A (p.Pro121Thr)
|
rs760483928
|
|
|
NM_005592.4(MUSK):c.361C>T (p.Pro121Ser)
|
|
|
|
NM_005592.4(MUSK):c.374G>A (p.Arg125His)
|
rs375737188
|
|
|
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu)
|
rs375737188
|
|
|
NM_005592.4(MUSK):c.402_403delinsAA (p.Gly135Arg)
|
rs2076418979
|
|
|
NM_005592.4(MUSK):c.433A>G (p.Met145Val)
|
rs748144400
|
|
|
NM_005592.4(MUSK):c.474_475delinsAC (p.Asp158_Ser159delinsGluArg)
|
rs1587917824
|
|
|
NM_005592.4(MUSK):c.479C>T (p.Pro160Leu)
|
rs1308383168
|
|
|
NM_005592.4(MUSK):c.494C>T (p.Ser165Phe)
|
rs1349731741
|
|
|
NM_005592.4(MUSK):c.503C>T (p.Ala168Val)
|
|
|
|
NM_005592.4(MUSK):c.509T>A (p.Leu170His)
|
rs1464415453
|
|
|
NM_005592.4(MUSK):c.535A>T (p.Asn179Tyr)
|
rs1554738557
|
|
|
NM_005592.4(MUSK):c.546G>C (p.Lys182Asn)
|
rs1207568075
|
|
|
NM_005592.4(MUSK):c.568T>C (p.Cys190Arg)
|
|
|
|
NM_005592.4(MUSK):c.589G>A (p.Gly197Arg)
|
rs768273510
|
|
|
NM_005592.4(MUSK):c.601T>G (p.Ser201Ala)
|
|
|
|
NM_005592.4(MUSK):c.617T>A (p.Leu206Gln)
|
|
|
|
NM_005592.4(MUSK):c.647G>T (p.Arg216Leu)
|
rs188464904
|
|
|
NM_005592.4(MUSK):c.665A>T (p.Asn222Ile)
|
rs55826142
|
|
|
NM_005592.4(MUSK):c.674T>A (p.Phe225Tyr)
|
|
|
|
NM_005592.4(MUSK):c.703G>A (p.Ala235Thr)
|
|
|
|
NM_005592.4(MUSK):c.721C>T (p.Pro241Ser)
|
rs1564253296
|
|
|
NM_005592.4(MUSK):c.741A>C (p.Glu247Asp)
|
rs2077002366
|
|
|
NM_005592.4(MUSK):c.753+5G>A
|
rs2077002564
|
|
|
NM_005592.4(MUSK):c.757TCT[3] (p.Ser254dup)
|
rs1287375718
|
|
|
NM_005592.4(MUSK):c.762T>A (p.Ser254=)
|
rs2077190189
|
|
|
NM_005592.4(MUSK):c.778A>T (p.Ser260Cys)
|
|
|
|
NM_005592.4(MUSK):c.7G>A (p.Glu3Lys)
|
|
|
|
NM_005592.4(MUSK):c.83C>T (p.Pro28Leu)
|
|
|
|
NM_005592.4(MUSK):c.848T>C (p.Ile283Thr)
|
rs2077193041
|
|
|
NM_005592.4(MUSK):c.899C>A (p.Thr300Asn)
|
rs1554749322
|
|
|
NM_005592.4(MUSK):c.899C>T (p.Thr300Ile)
|
rs1554749322
|
|
|
NM_005592.4(MUSK):c.916T>G (p.Trp306Gly)
|
rs1319203200
|
|
|
NM_005592.4(MUSK):c.920+5G>C
|
|
|
|
NM_005592.4(MUSK):c.935A>T (p.Asp312Val)
|
rs1362784498
|
|
|
NM_005592.4(MUSK):c.944_946delinsATA (p.Gly315_Tyr316delinsAspAsn)
|
rs2131955443
|
|
|
NM_005592.4(MUSK):c.946T>C (p.Tyr316His)
|
rs757775674
|
|
|
NM_005592.4(MUSK):c.952G>A (p.Ala318Thr)
|
|
|
|
NM_005592.4(MUSK):c.964G>A (p.Gly322Arg)
|
rs1449532775
|
|
|
NM_005592.4(MUSK):c.965G>C (p.Gly322Ala)
|
rs2131955587
|
|
|
NM_006147.4(IRF6):c.1053C>A (p.Phe351Leu)
|
|
|
|
NM_006147.4(IRF6):c.1055T>G (p.Leu352Arg)
|
rs1553247744
|
|
|
NM_006147.4(IRF6):c.1061-10C>G
|
|
|
|
NM_006147.4(IRF6):c.1190T>C (p.Val397Ala)
|
|
|
|
NM_006147.4(IRF6):c.1247G>A (p.Ser416Asn)
|
|
|
|
NM_006147.4(IRF6):c.1268T>G (p.Ile423Ser)
|
rs1553247592
|
|
|
NM_006147.4(IRF6):c.1270T>G (p.Ser424Ala)
|
rs2077848377
|
|
|
NM_006147.4(IRF6):c.1368del (p.Ser457fs)
|
rs1553247577
|
|
|
NM_006147.4(IRF6):c.1386del (p.Ala463fs)
|
|
|
|
NM_006147.4(IRF6):c.1400A>G (p.Gln467Arg)
|
rs1195873569
|
|
|
NM_006147.4(IRF6):c.174+2dup
|
rs1558042839
|
|
|
NM_006147.4(IRF6):c.174G>A (p.Lys58=)
|
rs2077939771
|
|
|
NM_006147.4(IRF6):c.199_213dup (p.Tyr67_Val71dup)
|
rs2077902226
|
|
|
NM_006147.4(IRF6):c.242C>A (p.Ala81Asp)
|
rs1553248270
|
|
|
NM_006147.4(IRF6):c.260T>C (p.Leu87Pro)
|
rs1553248267
|
|
|
NM_006147.4(IRF6):c.264T>A (p.Asn88Lys)
|
rs1553248265
|
|
|
NM_006147.4(IRF6):c.277T>C (p.Phe93Leu)
|
rs2077901853
|
|
|
NM_006147.4(IRF6):c.281A>G (p.Asn94Ser)
|
|
|
|
NM_006147.4(IRF6):c.290A>G (p.Tyr97Cys)
|
|
|
|
NM_006147.4(IRF6):c.301A>G (p.Lys101Glu)
|
|
|
|
NM_006147.4(IRF6):c.327G>C (p.Lys109Asn)
|
rs2102542804
|
|
|
NM_006147.4(IRF6):c.35C>A (p.Pro12His)
|
rs2077940711
|
|
|
NM_006147.4(IRF6):c.379+3G>T
|
|
|
|
NM_006147.4(IRF6):c.379G>A (p.Gly127Arg)
|
|
|
|
NM_006147.4(IRF6):c.41_42delinsGT (p.Leu14Arg)
|
rs1558042905
|
|
|
NM_006147.4(IRF6):c.458C>T (p.Ser153Leu)
|
|
|
|
NM_006147.4(IRF6):c.52G>A (p.Val18Met)
|
rs2077940645
|
|
|
NM_006147.4(IRF6):c.561C>A (p.Ser187Arg)
|
|
|
|
NM_006147.4(IRF6):c.565G>A (p.Glu189Lys)
|
rs1558039763
|
|
|
NM_006147.4(IRF6):c.649T>C (p.Trp217Arg)
|
|
|
|
NM_006147.4(IRF6):c.665C>T (p.Pro222Leu)
|
rs1571980623
|
|
|
NM_006147.4(IRF6):c.668-5T>G
|
rs1553247787
|
|
|
NM_006147.4(IRF6):c.668-8C>G
|
rs2077865321
|
|
|
NM_006147.4(IRF6):c.683T>C (p.Ile228Thr)
|
rs2102537206
|
|
|
NM_006147.4(IRF6):c.726C>G (p.Thr242=)
|
rs115610019
|
|
|
NM_006147.4(IRF6):c.745T>C (p.Cys249Arg)
|
rs2102537121
|
|
|
NM_006147.4(IRF6):c.754T>G (p.Phe252Val)
|
rs2077864661
|
|
|
NM_006147.4(IRF6):c.805G>A (p.Val269Ile)
|
|
|
|
NM_006147.4(IRF6):c.819G>C (p.Gln273His)
|
rs2077864346
|
|
|
NM_006147.4(IRF6):c.819_820delinsCA (p.Gln273_Val274delinsHisIle)
|
|
|
|
NM_006147.4(IRF6):c.82T>G (p.Trp28Gly)
|
rs1553248637
|
|
|
NM_006147.4(IRF6):c.866T>C (p.Leu289Pro)
|
rs2102536986
|
|
|
NM_006147.4(IRF6):c.932T>C (p.Ile311Thr)
|
rs2077863646
|
|
|
NM_006147.4(IRF6):c.964T>A (p.Tyr322Asn)
|
rs1553247754
|
|
|
NM_006265.3(RAD21):c.1120T>C (p.Ser374Pro)
|
|
|
|
NM_006265.3(RAD21):c.1130C>T (p.Ala377Val)
|
|
|
|
NM_006265.3(RAD21):c.1153C>G (p.Leu385Val)
|
|
|
|
NM_006265.3(RAD21):c.1186C>T (p.Leu396Phe)
|
|
|
|
NM_006265.3(RAD21):c.1211G>A (p.Arg404Lys)
|
|
|
|
NM_006265.3(RAD21):c.1228G>T (p.Ala410Ser)
|
|
|
|
NM_006265.3(RAD21):c.1235A>G (p.Asn412Ser)
|
|
|
|
NM_006265.3(RAD21):c.1273G>A (p.Val425Ile)
|
|
|
|
NM_006265.3(RAD21):c.1276C>T (p.Pro426Ser)
|
|
|
|
NM_006265.3(RAD21):c.1296GCA[1] (p.Gln433del)
|
rs2130459649
|
|
|
NM_006265.3(RAD21):c.1298A>G (p.Gln433Arg)
|
|
|
|
NM_006265.3(RAD21):c.1359_1360delinsTC (p.Glu453_Ser454delinsAspPro)
|
|
|
|
NM_006265.3(RAD21):c.1382_1384del (p.Thr461del)
|
|
|
|
NM_006265.3(RAD21):c.144+5G>A
|
|
|
|
NM_006265.3(RAD21):c.1489A>G (p.Met497Val)
|
|
|
|
NM_006265.3(RAD21):c.1517C>G (p.Pro506Arg)
|
|
|
|
NM_006265.3(RAD21):c.1528C>G (p.Pro510Ala)
|
|
|
|
NM_006265.3(RAD21):c.1532A>G (p.Asn511Ser)
|
rs1202371552
|
|
|
NM_006265.3(RAD21):c.1538G>C (p.Cys513Ser)
|
|
|
|
NM_006265.3(RAD21):c.1549C>T (p.Pro517Ser)
|
|
|
|
NM_006265.3(RAD21):c.1579_1581del (p.Lys527del)
|
|
|
|
NM_006265.3(RAD21):c.1592A>G (p.Lys531Arg)
|
|
|
|
NM_006265.3(RAD21):c.1602A>T (p.Glu534Asp)
|
|
|
|
NM_006265.3(RAD21):c.1608_1613del (p.Asp536_Glu537del)
|
|
|
|
NM_006265.3(RAD21):c.1620G>A (p.Glu540=)
|
|
|
|
NM_006265.3(RAD21):c.1621-12A>T
|
|
|
|
NM_006265.3(RAD21):c.1621-13C>T
|
|
|
|
NM_006265.3(RAD21):c.1694A>G (p.His565Arg)
|
|
|
|
NM_006265.3(RAD21):c.1705-2A>G
|
|
|
|
NM_006265.3(RAD21):c.1727C>T (p.Ala576Val)
|
|
|
|
NM_006265.3(RAD21):c.1729G>A (p.Glu577Lys)
|
|
|
|
NM_006265.3(RAD21):c.1742T>C (p.Leu581Ser)
|
rs2130450108
|
|
|
NM_006265.3(RAD21):c.1811A>G (p.Lys604Arg)
|
|
|
|
NM_006265.3(RAD21):c.1815G>C (p.Lys605Asn)
|
|
|
|
NM_006265.3(RAD21):c.1863C>G (p.Ile621Met)
|
rs763059424
|
|
|
NM_006265.3(RAD21):c.1895A>G (p.Ter632=)
|
|
|
|
NM_006265.3(RAD21):c.431C>T (p.Thr144Ile)
|
|
|
|
NM_006265.3(RAD21):c.482G>A (p.Gly161Asp)
|
|
|
|
NM_006265.3(RAD21):c.513G>A (p.Met171Ile)
|
|
|
|
NM_006265.3(RAD21):c.583T>C (p.Ser195Pro)
|
|
|
|
NM_006265.3(RAD21):c.623A>G (p.His208Arg)
|
|
|
|
NM_006265.3(RAD21):c.676G>A (p.Gly226Ser)
|
|
|
|
NM_006265.3(RAD21):c.686T>C (p.Leu229Ser)
|
|
|
|
NM_006265.3(RAD21):c.767C>T (p.Pro256Leu)
|
|
|
|
NM_006265.3(RAD21):c.814+6C>G
|
|
|
|
NM_006265.3(RAD21):c.838T>A (p.Ser280Thr)
|
|
|
|
NM_006265.3(RAD21):c.850G>A (p.Val284Ile)
|
rs760261220
|
|
|
NM_006265.3(RAD21):c.865A>G (p.Thr289Ala)
|
|
|
|
NM_006265.3(RAD21):c.868A>G (p.Met290Val)
|
|
|
|
NM_006265.3(RAD21):c.871A>G (p.Thr291Ala)
|
|
|
|
NM_006265.3(RAD21):c.925A>G (p.Ile309Val)
|
|
|
|
NM_006306.4(SMC1A):c.1014G>C (p.Lys338Asn)
|
|
|
|
NM_006306.4(SMC1A):c.1114-3C>T
|
|
|
|
NM_006306.4(SMC1A):c.1130G>A (p.Arg377Gln)
|
|
|
|
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del)
|
rs797045991
|
|
|
NM_006306.4(SMC1A):c.1149C>G (p.Ser383Arg)
|
|
|
|
NM_006306.4(SMC1A):c.1190A>G (p.Asn397Ser)
|
rs782697006
|
|
|
NM_006306.4(SMC1A):c.1203A>C (p.Lys401Asn)
|
rs2075714119
|
|
|
NM_006306.4(SMC1A):c.1213G>A (p.Asp405Asn)
|
|
|
|
NM_006306.4(SMC1A):c.1219C>G (p.Leu407Val)
|
|
|
|
NM_006306.4(SMC1A):c.124A>G (p.Met42Val)
|
rs1556891104
|
|
|
NM_006306.4(SMC1A):c.1338-4G>C
|
|
|
|
NM_006306.4(SMC1A):c.1369G>C (p.Gly457Arg)
|
|
|
|
NM_006306.4(SMC1A):c.1370G>C (p.Gly457Ala)
|
|
|
|
NM_006306.4(SMC1A):c.1396G>T (p.Ala466Ser)
|
|
|
|
NM_006306.4(SMC1A):c.1412A>G (p.Asp471Gly)
|
rs2146602338
|
|
|
NM_006306.4(SMC1A):c.1436A>C (p.Gln479Pro)
|
rs2075701962
|
|
|
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly)
|
rs587784405
|
|
|
NM_006306.4(SMC1A):c.1546-10C>G
|
rs2146600160
|
|
|
NM_006306.4(SMC1A):c.1553G>A (p.Arg518His)
|
rs2146600129
|
|
|
NM_006306.4(SMC1A):c.1628A>G (p.Asp543Gly)
|
|
|
|
NM_006306.4(SMC1A):c.1665C>G (p.Asp555Glu)
|
|
|
|
NM_006306.4(SMC1A):c.1681A>C (p.Lys561Gln)
|
rs2075689185
|
|
|
NM_006306.4(SMC1A):c.1682A>G (p.Lys561Arg)
|
rs2075689167
|
|
|
NM_006306.4(SMC1A):c.1695G>T (p.Gly565=)
|
|
|
|
NM_006306.4(SMC1A):c.1696G>A (p.Glu566Lys)
|
rs2146600005
|
|
|
NM_006306.4(SMC1A):c.1731+3G>T
|
rs2075688980
|
|
|
NM_006306.4(SMC1A):c.1799A>T (p.Tyr600Phe)
|
|
|
|
NM_006306.4(SMC1A):c.1808C>T (p.Pro603Leu)
|
|
|
|
NM_006306.4(SMC1A):c.1844A>G (p.Asn615Ser)
|
rs2146599772
|
|
|
NM_006306.4(SMC1A):c.1847C>T (p.Ala616Val)
|
rs782196047
|
|
|
NM_006306.4(SMC1A):c.1872T>G (p.Asp624Glu)
|
rs1369059288
|
|
|
NM_006306.4(SMC1A):c.1876C>T (p.Arg626Cys)
|
rs1556889577
|
|
|
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His)
|
rs587784407
|
|
|
NM_006306.4(SMC1A):c.1879C>T (p.Arg627Cys)
|
|
|
|
NM_006306.4(SMC1A):c.1904G>A (p.Arg635His)
|
rs2146599709
|
|
|
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=)
|
rs2075687850
|
|
|
NM_006306.4(SMC1A):c.1961G>T (p.Gly654Val)
|
|
|
|
NM_006306.4(SMC1A):c.2065A>G (p.Met689Val)
|
rs2075686262
|
|
|
NM_006306.4(SMC1A):c.2095C>T (p.Arg699Cys)
|
rs2075686139
|
|
|
NM_006306.4(SMC1A):c.2156T>C (p.Leu719Pro)
|
|
|
|
NM_006306.4(SMC1A):c.2171C>T (p.Thr724Ile)
|
|
|
|
NM_006306.4(SMC1A):c.2291A>G (p.Asp764Gly)
|
|
|
|
NM_006306.4(SMC1A):c.2299_2301del (p.Glu767del)
|
|
|
|
NM_006306.4(SMC1A):c.2313+3T>G
|
rs782384493
|
|
|
NM_006306.4(SMC1A):c.2314-15G>A
|
rs2146598343
|
|
|
NM_006306.4(SMC1A):c.2314G>T (p.Val772Leu)
|
rs2075680361
|
|
|
NM_006306.4(SMC1A):c.2360G>A (p.Arg787His)
|
|
|
|
NM_006306.4(SMC1A):c.2420+5G>A
|
rs1556889217
|
|
|
NM_006306.4(SMC1A):c.2446C>T (p.Arg816Cys)
|
rs1556888586
|
|
|
NM_006306.4(SMC1A):c.2456T>G (p.Ile819Ser)
|
rs587784413
|
|
|
NM_006306.4(SMC1A):c.2498A>G (p.Asp833Gly)
|
|
|
|
NM_006306.4(SMC1A):c.2509A>T (p.Met837Leu)
|
|
|
|
NM_006306.4(SMC1A):c.2560A>C (p.Lys854Gln)
|
|
|
|
NM_006306.4(SMC1A):c.2563-3C>G
|
|
|
|
NM_006306.4(SMC1A):c.2563-3C>T
|
|
|
|
NM_006306.4(SMC1A):c.2585T>C (p.Ile862Thr)
|
|
|
|
NM_006306.4(SMC1A):c.261_272del (p.Glu87_Glu90del)
|
rs1569359505
|
|
|
NM_006306.4(SMC1A):c.2635G>A (p.Ala879Thr)
|
|
|
|
NM_006306.4(SMC1A):c.2708+7G>A
|
|
|
|
NM_006306.4(SMC1A):c.2708A>G (p.Lys903Arg)
|
rs1569355072
|
|
|
NM_006306.4(SMC1A):c.2717C>T (p.Thr906Ile)
|
rs2146593520
|
|
|
NM_006306.4(SMC1A):c.2727G>T (p.Gln909His)
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|
|
|
NM_006306.4(SMC1A):c.2729AGG[1] (p.Glu911del)
|
rs2075651266
|
|
|
NM_006306.4(SMC1A):c.2753A>C (p.Lys918Thr)
|
|
|
|
NM_006306.4(SMC1A):c.2777G>A (p.Arg926His)
|
|
|
|
NM_006306.4(SMC1A):c.2789T>C (p.Leu930Pro)
|
rs2146593453
|
|
|
NM_006306.4(SMC1A):c.2794G>A (p.Ala932Thr)
|
|
|
|
NM_006306.4(SMC1A):c.2862+4A>G
|
rs1445281439
|
|
|
NM_006306.4(SMC1A):c.2882A>T (p.Asp961Val)
|
rs2146592435
|
|
|
NM_006306.4(SMC1A):c.2887G>C (p.Val963Leu)
|
rs2146592426
|
|
|
NM_006306.4(SMC1A):c.2890A>G (p.Ser964Gly)
|
|
|
|
NM_006306.4(SMC1A):c.2912G>T (p.Ser971Ile)
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|
|
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NM_006306.4(SMC1A):c.2918A>G (p.Tyr973Cys)
|
|
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|
NM_006306.4(SMC1A):c.2966A>T (p.Asp989Val)
|
|
|
|
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=)
|
rs2075644860
|
|
|
NM_006306.4(SMC1A):c.2974-9G>A
|
rs2146583272
|
|
|
NM_006306.4(SMC1A):c.3026A>G (p.Lys1009Arg)
|
|
|
|
NM_006306.4(SMC1A):c.304T>G (p.Ser102Ala)
|
rs2146606564
|
|
|
NM_006306.4(SMC1A):c.3053A>G (p.Gln1018Arg)
|
rs2075591743
|
|
|
NM_006306.4(SMC1A):c.3056G>A (p.Arg1019His)
|
|
|
|
NM_006306.4(SMC1A):c.3178G>A (p.Glu1060Lys)
|
rs1057521921
|
|
|
NM_006306.4(SMC1A):c.3205C>G (p.Arg1069Gly)
|
rs2075588188
|
|
|
NM_006306.4(SMC1A):c.3212A>G (p.Asn1071Ser)
|
|
|
|
NM_006306.4(SMC1A):c.3227C>T (p.Ser1076Phe)
|
rs2146582586
|
|
|
NM_006306.4(SMC1A):c.3235A>G (p.Thr1079Ala)
|
rs1602398590
|
|
|
NM_006306.4(SMC1A):c.3252C>G (p.Ile1084Met)
|
rs587784417
|
|
|
NM_006306.4(SMC1A):c.3280G>A (p.Ala1094Thr)
|
|
|
|
NM_006306.4(SMC1A):c.3305A>G (p.Asn1102Ser)
|
rs2146582465
|
|
|
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His)
|
rs2075586377
|
|
|
NM_006306.4(SMC1A):c.3436A>C (p.Ser1146Arg)
|
|
|
|
NM_006306.4(SMC1A):c.34T>G (p.Phe12Val)
|
rs2146614101
|
|
|
NM_006306.4(SMC1A):c.3507+3G>A
|
rs1556885809
|
|
|
NM_006306.4(SMC1A):c.3530A>G (p.Gln1177Arg)
|
|
|
|
NM_006306.4(SMC1A):c.3533C>T (p.Ser1178Leu)
|
|
|
|
NM_006306.4(SMC1A):c.3559A>G (p.Ile1187Val)
|
rs2146581303
|
|
|
NM_006306.4(SMC1A):c.3592G>C (p.Glu1198Gln)
|
rs782175064
|
|
|
NM_006306.4(SMC1A):c.3621A>G (p.Gln1207=)
|
rs2146581022
|
|
|
NM_006306.4(SMC1A):c.3625G>A (p.Asp1209Asn)
|
|
|
|
NM_006306.4(SMC1A):c.3655G>A (p.Asp1219Asn)
|
|
|
|
NM_006306.4(SMC1A):c.3655_3656insCCG (p.Phe1218_Asp1219insAla)
|
rs2075576498
|
|
|
NM_006306.4(SMC1A):c.3661A>G (p.Thr1221Ala)
|
rs2146580992
|
|
|
NM_006306.4(SMC1A):c.37A>C (p.Lys13Gln)
|
rs2075764777
|
|
|
NM_006306.4(SMC1A):c.391C>T (p.Arg131Cys)
|
|
|
|
NM_006306.4(SMC1A):c.428T>G (p.Ile143Ser)
|
rs2146605688
|
|
|
NM_006306.4(SMC1A):c.479G>A (p.Arg160His)
|
|
|
|
NM_006306.4(SMC1A):c.4G>C (p.Gly2Arg)
|
|
|
|
NM_006306.4(SMC1A):c.512G>A (p.Arg171Gln)
|
rs2075720519
|
|
|
NM_006306.4(SMC1A):c.526G>A (p.Val176Met)
|
|
|
|
NM_006306.4(SMC1A):c.562C>T (p.Arg188Cys)
|
rs2146605558
|
|
|
NM_006306.4(SMC1A):c.578C>T (p.Ala193Val)
|
|
|
|
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)
|
rs587784422
|
|
|
NM_006306.4(SMC1A):c.641A>G (p.Asp214Gly)
|
|
|
|
NM_006306.4(SMC1A):c.653G>A (p.Arg218Gln)
|
|
|
|
NM_006306.4(SMC1A):c.738C>A (p.Asn246Lys)
|
|
|
|
NM_006306.4(SMC1A):c.739A>G (p.Lys247Glu)
|
|
|
|
NM_006306.4(SMC1A):c.744_755del (p.Glu248_Lys251del)
|
rs2146605357
|
|
|
NM_006306.4(SMC1A):c.764G>C (p.Arg255Pro)
|
|
|
|
NM_006306.4(SMC1A):c.773A>G (p.Lys258Arg)
|
|
|
|
NM_006306.4(SMC1A):c.800A>G (p.Lys267Arg)
|
|
|
|
NM_006306.4(SMC1A):c.812G>A (p.Gly271Asp)
|
rs2146605306
|
|
|
NM_006306.4(SMC1A):c.824G>A (p.Arg275Gln)
|
|
|
|
NM_006306.4(SMC1A):c.859_861del (p.Lys287del)
|
rs1556890626
|
|
|
NM_006306.4(SMC1A):c.917C>A (p.Ser306Tyr)
|
rs2146604807
|
|
|
NM_006306.4(SMC1A):c.920A>G (p.His307Arg)
|
rs1556890616
|
|
|
NM_006306.4(SMC1A):c.937G>A (p.Glu313Lys)
|
|
|
|
NM_006306.4(SMC1A):c.947A>G (p.Lys316Arg)
|
|
|
|
NM_006306.4(SMC1A):c.970A>G (p.Lys324Glu)
|
|
|
|
NM_006306.4(SMC1A):c.977A>T (p.Tyr326Phe)
|
|
|
|
NM_006306.4(SMC1A):c.986G>C (p.Arg329Pro)
|
rs782449052
|
|
|
NM_012243.3(SLC35A3):c.103C>A (p.Pro35Thr)
|
rs1199734991
|
|
|
NM_012243.3(SLC35A3):c.11A>C (p.Asn4Thr)
|
rs1658214274
|
|
|
NM_012243.3(SLC35A3):c.191G>A (p.Cys64Tyr)
|
rs1658606601
|
|
|
NM_012243.3(SLC35A3):c.194G>T (p.Ser65Ile)
|
rs1658606953
|
|
|
NM_012243.3(SLC35A3):c.248A>C (p.Glu83Ala)
|
|
|
|
NM_012243.3(SLC35A3):c.269C>T (p.Pro90Leu)
|
|
|
|
NM_012243.3(SLC35A3):c.342+4C>T
|
rs1658617673
|
|
|
NM_012243.3(SLC35A3):c.477T>G (p.Asp159Glu)
|
|
|
|
NM_012243.3(SLC35A3):c.49A>G (p.Thr17Ala)
|
rs1334259370
|
|
|
NM_012243.3(SLC35A3):c.548G>A (p.Cys183Tyr)
|
rs1184691007
|
|
|
NM_012243.3(SLC35A3):c.635-3del
|
rs766308423
|
|
|
NM_012243.3(SLC35A3):c.700A>G (p.Asn234Asp)
|
rs1557844477
|
|
|
NM_012243.3(SLC35A3):c.725G>A (p.Arg242Gln)
|
rs760633616
|
|
|
NM_012243.3(SLC35A3):c.736A>G (p.Ile246Val)
|
|
|
|
NM_012243.3(SLC35A3):c.738A>G (p.Ile246Met)
|
|
|
|
NM_012243.3(SLC35A3):c.753G>A (p.Gln251=)
|
rs1660027769
|
|
|
NM_012243.3(SLC35A3):c.76T>A (p.Tyr26Asn)
|
|
|
|
NM_012243.3(SLC35A3):c.778G>C (p.Ala260Pro)
|
rs1557846118
|
|
|
NM_012243.3(SLC35A3):c.796G>T (p.Asp266Tyr)
|
|
|
|
NM_012243.3(SLC35A3):c.827T>C (p.Leu276Ser)
|
rs1553204431
|
|
|
NM_012243.3(SLC35A3):c.887G>A (p.Ser296Asn)
|
rs1310530690
|
|
|
NM_012243.3(SLC35A3):c.92AAG[2] (p.Glu33del)
|
|
|
|
NM_012243.3(SLC35A3):c.959G>A (p.Gly320Glu)
|
rs1553205151
|
|
|
NM_013352.4(DSE):c.101C>G (p.Pro34Arg)
|
rs35548455
|
|
|
NM_013352.4(DSE):c.1073C>G (p.Pro358Arg)
|
|
|
|
NM_013352.4(DSE):c.110A>G (p.Asn37Ser)
|
rs371802983
|
|
|
NM_013352.4(DSE):c.1173_1174delinsAT (p.His392Tyr)
|
rs2115093579
|
|
|
NM_013352.4(DSE):c.1237T>C (p.Ser413Pro)
|
|
|
|
NM_013352.4(DSE):c.1243C>G (p.Leu415Val)
|
|
|
|
NM_013352.4(DSE):c.1334A>G (p.Asn445Ser)
|
rs1423707879
|
|
|
NM_013352.4(DSE):c.1360G>A (p.Asp454Asn)
|
rs2115094114
|
|
|
NM_013352.4(DSE):c.1388A>G (p.Asn463Ser)
|
|
|
|
NM_013352.4(DSE):c.1420G>C (p.Gly474Arg)
|
|
|
|
NM_013352.4(DSE):c.1421G>C (p.Gly474Ala)
|
|
|
|
NM_013352.4(DSE):c.1435T>G (p.Phe479Val)
|
|
|
|
NM_013352.4(DSE):c.1437C>G (p.Phe479Leu)
|
rs757356537
|
|
|
NM_013352.4(DSE):c.1488_1506del (p.Pro497fs)
|
rs2115094515
|
|
|
NM_013352.4(DSE):c.1536A>C (p.Lys512Asn)
|
rs2115094625
|
|
|
NM_013352.4(DSE):c.1612C>G (p.Arg538Gly)
|
|
|
|
NM_013352.4(DSE):c.1643A>T (p.Gln548Leu)
|
rs2115094990
|
|
|
NM_013352.4(DSE):c.1658A>G (p.Asn553Ser)
|
|
|
|
NM_013352.4(DSE):c.1673_1674del (p.Leu558fs)
|
rs2115095071
|
|
|
NM_013352.4(DSE):c.1686T>A (p.His562Gln)
|
rs2115095121
|
|
|
NM_013352.4(DSE):c.16C>T (p.Arg6Trp)
|
|
|
|
NM_013352.4(DSE):c.171G>T (p.Gln57His)
|
|
|
|
NM_013352.4(DSE):c.1735C>T (p.Pro579Ser)
|
|
|
|
NM_013352.4(DSE):c.1751C>T (p.Ala584Val)
|
|
|
|
NM_013352.4(DSE):c.182C>A (p.Ala61Asp)
|
rs2114995025
|
|
|
NM_013352.4(DSE):c.1832A>G (p.Asp611Gly)
|
|
|
|
NM_013352.4(DSE):c.1834G>A (p.Gly612Ser)
|
|
|
|
NM_013352.4(DSE):c.1916A>T (p.Tyr639Phe)
|
rs1784155007
|
|
|
NM_013352.4(DSE):c.1926_1927inv (p.Gly643Arg)
|
|
|
|
NM_013352.4(DSE):c.2032G>A (p.Gly678Arg)
|
|
|
|
NM_013352.4(DSE):c.2063C>T (p.Ala688Val)
|
rs143443243
|
|
|
NM_013352.4(DSE):c.2072A>G (p.Lys691Arg)
|
|
|
|
NM_013352.4(DSE):c.2146C>A (p.Arg716Ser)
|
rs762120249
|
|
|
NM_013352.4(DSE):c.2146C>G (p.Arg716Gly)
|
|
|
|
NM_013352.4(DSE):c.2146C>T (p.Arg716Cys)
|
rs762120249
|
|
|
NM_013352.4(DSE):c.2213A>G (p.Tyr738Cys)
|
|
|
|
NM_013352.4(DSE):c.2239C>T (p.Gln747Ter)
|
rs1784181791
|
|
|
NM_013352.4(DSE):c.2288G>A (p.Arg763Gln)
|
|
|
|
NM_013352.4(DSE):c.2294G>A (p.Arg765Gln)
|
|
|
|
NM_013352.4(DSE):c.2302G>C (p.Ala768Pro)
|
|
|
|
NM_013352.4(DSE):c.230C>T (p.Thr77Met)
|
|
|
|
NM_013352.4(DSE):c.2401C>T (p.Gln801Ter)
|
|
|
|
NM_013352.4(DSE):c.2443C>T (p.Arg815Cys)
|
rs760979521
|
|
|
NM_013352.4(DSE):c.2465T>C (p.Val822Ala)
|
rs778282572
|
|
|
NM_013352.4(DSE):c.2500A>G (p.Lys834Glu)
|
|
|
|
NM_013352.4(DSE):c.2511A>T (p.Arg837Ser)
|
|
|
|
NM_013352.4(DSE):c.2542C>G (p.Leu848Val)
|
|
|
|
NM_013352.4(DSE):c.2546C>A (p.Pro849His)
|
|
|
|
NM_013352.4(DSE):c.2582A>G (p.Asp861Gly)
|
rs2115099078
|
|
|
NM_013352.4(DSE):c.2602G>A (p.Glu868Lys)
|
|
|
|
NM_013352.4(DSE):c.2635C>G (p.Arg879Gly)
|
rs113277624
|
|
|
NM_013352.4(DSE):c.2635C>T (p.Arg879Trp)
|
rs113277624
|
|
|
NM_013352.4(DSE):c.2641G>A (p.Gly881Arg)
|
|
|
|
NM_013352.4(DSE):c.2650C>T (p.Arg884Trp)
|
|
|
|
NM_013352.4(DSE):c.2675G>C (p.Arg892Thr)
|
|
|
|
NM_013352.4(DSE):c.2693C>G (p.Ala898Gly)
|
|
|
|
NM_013352.4(DSE):c.277G>A (p.Asp93Asn)
|
rs2114995361
|
|
|
NM_013352.4(DSE):c.2799del (p.Arg933fs)
|
rs1339083714
|
|
|
NM_013352.4(DSE):c.2812G>T (p.Val938Phe)
|
|
|
|
NM_013352.4(DSE):c.2843G>A (p.Trp948Ter)
|
|
|
|
NM_013352.4(DSE):c.325T>G (p.Leu109Val)
|
rs1781471216
|
|
|
NM_013352.4(DSE):c.331A>G (p.Met111Val)
|
rs866132678
|
|
|
NM_013352.4(DSE):c.340G>T (p.Val114Leu)
|
|
|
|
NM_013352.4(DSE):c.34T>A (p.Phe12Ile)
|
|
|
|
NM_013352.4(DSE):c.355A>C (p.Asn119His)
|
rs1583172956
|
|
|
NM_013352.4(DSE):c.364G>A (p.Ala122Thr)
|
rs1781474657
|
|
|
NM_013352.4(DSE):c.420G>C (p.Leu140Phe)
|
|
|
|
NM_013352.4(DSE):c.480del (p.Ala161fs)
|
|
|
|
NM_013352.4(DSE):c.53G>A (p.Cys18Tyr)
|
rs76186865
|
|
|
NM_013352.4(DSE):c.59T>G (p.Val20Gly)
|
|
|
|
NM_013352.4(DSE):c.5G>A (p.Arg2Lys)
|
|
|
|
NM_013352.4(DSE):c.611A>G (p.Asn204Ser)
|
rs2115065124
|
|
|
NM_013352.4(DSE):c.647G>T (p.Gly216Val)
|
|
|
|
NM_013352.4(DSE):c.701A>G (p.Lys234Arg)
|
|
|
|
NM_013352.4(DSE):c.718A>G (p.Met240Val)
|
|
|
|
NM_013352.4(DSE):c.78C>A (p.Asp26Glu)
|
|
|
|
NM_013352.4(DSE):c.826G>A (p.Val276Ile)
|
|
|
|
NM_013352.4(DSE):c.863C>T (p.Pro288Leu)
|
|
|
|
NM_013352.4(DSE):c.8C>A (p.Thr3Asn)
|
rs1164317142
|
|
|
NM_014918.5(CHSY1):c.1006C>T (p.Arg336Cys)
|
rs1320280755
|
|
|
NM_014918.5(CHSY1):c.1111G>A (p.Glu371Lys)
|
rs1596419433
|
|
|
NM_014918.5(CHSY1):c.1183A>G (p.Arg395Gly)
|
|
|
|
NM_014918.5(CHSY1):c.1267A>G (p.Arg423Gly)
|
rs370806474
|
|
|
NM_014918.5(CHSY1):c.1339T>C (p.Tyr447His)
|
|
|
|
NM_014918.5(CHSY1):c.1412C>T (p.Ala471Val)
|
|
|
|
NM_014918.5(CHSY1):c.1492A>T (p.Asn498Tyr)
|
|
|
|
NM_014918.5(CHSY1):c.158C>T (p.Ala53Val)
|
rs2039108667
|
|
|
NM_014918.5(CHSY1):c.1670C>T (p.Thr557Met)
|
|
|
|
NM_014918.5(CHSY1):c.1689G>C (p.Gln563His)
|
|
|
|
NM_014918.5(CHSY1):c.1736A>G (p.Asp579Gly)
|
|
|
|
NM_014918.5(CHSY1):c.182C>T (p.Ala61Val)
|
|
|
|
NM_014918.5(CHSY1):c.1865A>G (p.Asn622Ser)
|
|
|
|
NM_014918.5(CHSY1):c.191A>C (p.Asp64Ala)
|
rs2039108011
|
|
|
NM_014918.5(CHSY1):c.2029A>G (p.Asn677Asp)
|
rs747715647
|
|
|
NM_014918.5(CHSY1):c.2119G>A (p.Gly707Ser)
|
rs773030000
|
|
|
NM_014918.5(CHSY1):c.2120G>T (p.Gly707Val)
|
|
|
|
NM_014918.5(CHSY1):c.2219T>C (p.Val740Ala)
|
|
|
|
NM_014918.5(CHSY1):c.226G>A (p.Asp76Asn)
|
|
|
|
NM_014918.5(CHSY1):c.2273A>G (p.Lys758Arg)
|
rs2038208535
|
|
|
NM_014918.5(CHSY1):c.2294G>C (p.Gly765Ala)
|
|
|
|
NM_014918.5(CHSY1):c.2320A>G (p.Thr774Ala)
|
rs556065115
|
|
|
NM_014918.5(CHSY1):c.2377A>G (p.Ser793Gly)
|
rs960887600
|
|
|
NM_014918.5(CHSY1):c.2395G>T (p.Val799Leu)
|
|
|
|
NM_014918.5(CHSY1):c.278C>G (p.Thr93Ser)
|
|
|
|
NM_014918.5(CHSY1):c.404C>A (p.Pro135Gln)
|
|
|
|
NM_014918.5(CHSY1):c.469C>G (p.His157Asp)
|
|
|
|
NM_014918.5(CHSY1):c.469C>T (p.His157Tyr)
|
rs2141275520
|
|
|
NM_014918.5(CHSY1):c.49G>A (p.Val17Ile)
|
|
|
|
NM_014918.5(CHSY1):c.535G>T (p.Asp179Tyr)
|
rs138311444
|
|
|
NM_014918.5(CHSY1):c.574G>A (p.Glu192Lys)
|
|
|
|
NM_014918.5(CHSY1):c.576G>C (p.Glu192Asp)
|
|
|
|
NM_014918.5(CHSY1):c.580C>T (p.Leu194Phe)
|
|
|
|
NM_014918.5(CHSY1):c.691G>T (p.Val231Leu)
|
rs2038928981
|
|
|
NM_014918.5(CHSY1):c.727C>G (p.Leu243Val)
|
|
|
|
NM_014918.5(CHSY1):c.949A>G (p.Ser317Gly)
|
rs2038235884
|
|
|
NM_014918.5(CHSY1):c.94T>C (p.Ser32Pro)
|
rs760263900
|
|
|
NM_014918.5(CHSY1):c.971T>C (p.Ile324Thr)
|
rs1596419735
|
|
|
NM_014918.5(CHSY1):c.986A>G (p.His329Arg)
|
rs774636195
|
|
|
NM_016277.5(RAB23):c.14A>T (p.Asp5Val)
|
|
|
|
NM_016277.5(RAB23):c.317_322del (p.Lys106_Val108delinsIle)
|
|
|
|
NM_016277.5(RAB23):c.337G>A (p.Asp113Asn)
|
rs748398827
|
|
|
NM_016277.5(RAB23):c.481+4A>C
|
|
|
|
NM_016277.5(RAB23):c.522dup (p.Gln175fs)
|
|
|
|
NM_016277.5(RAB23):c.590C>T (p.Ser197Phe)
|
rs2127996379
|
|
|
NM_016277.5(RAB23):c.607G>A (p.Gly203Ser)
|
|
|
|
NM_016277.5(RAB23):c.712T>G (p.Ter238Glu)
|
rs751619487
|
|
|
NM_017617.5(NOTCH1):c.1017T>G (p.Cys339Trp)
|
|
|
|
NM_017617.5(NOTCH1):c.1018G>A (p.Ala340Thr)
|
|
|
|
NM_017617.5(NOTCH1):c.1027G>A (p.Ala343Thr)
|
rs1843317533
|
|
|
NM_017617.5(NOTCH1):c.103G>A (p.Gly35Arg)
|
rs1843774247
|
|
|
NM_017617.5(NOTCH1):c.1067C>T (p.Ser356Phe)
|
rs1843316270
|
|
|
NM_017617.5(NOTCH1):c.1081T>C (p.Cys361Arg)
|
rs1843315932
|
|
|
NM_017617.5(NOTCH1):c.1093C>T (p.Arg365Cys)
|
rs1064795070
|
|
|
NM_017617.5(NOTCH1):c.1109G>A (p.Cys370Tyr)
|
rs1564199987
|
|
|
NM_017617.5(NOTCH1):c.1242T>G (p.Asp414Glu)
|
rs1843307597
|
|
|
NM_017617.5(NOTCH1):c.1277C>G (p.Ala426Gly)
|
rs528033027
|
|
|
NM_017617.5(NOTCH1):c.1295C>G (p.Thr432Arg)
|
rs200562991
|
|
|
NM_017617.5(NOTCH1):c.1363G>A (p.Glu455Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.1369G>T (p.Val457Phe)
|
|
|
|
NM_017617.5(NOTCH1):c.1379C>T (p.Pro460Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.1385A>G (p.Gln462Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.142T>A (p.Cys48Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.1440C>A (p.Pro480=)
|
rs61751555
|
|
|
NM_017617.5(NOTCH1):c.1441G>C (p.Gly481Arg)
|
rs1448146225
|
|
|
NM_017617.5(NOTCH1):c.1442-3C>T
|
rs1589067790
|
|
|
NM_017617.5(NOTCH1):c.1442G>T (p.Gly481Val)
|
rs2133367544
|
|
|
NM_017617.5(NOTCH1):c.1474G>A (p.Asp492Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.1477G>A (p.Glu493Lys)
|
rs1554729862
|
|
|
NM_017617.5(NOTCH1):c.1477G>C (p.Glu493Gln)
|
|
|
|
NM_017617.5(NOTCH1):c.1483_1484delinsAA (p.Ala495Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.1487G>C (p.Ser496Thr)
|
rs2133367463
|
|
|
NM_017617.5(NOTCH1):c.1496G>T (p.Cys499Phe)
|
rs1843292131
|
|
|
NM_017617.5(NOTCH1):c.1514G>A (p.Cys505Tyr)
|
rs1060502240
|
|
|
NM_017617.5(NOTCH1):c.1522A>G (p.Lys508Glu)
|
|
|
|
NM_017617.5(NOTCH1):c.1527C>G (p.Ile509Met)
|
|
|
|
NM_017617.5(NOTCH1):c.1528A>G (p.Asn510Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.1539G>C (p.Gln513His)
|
rs747069934
|
|
|
NM_017617.5(NOTCH1):c.1555+5G>A
|
|
|
|
NM_017617.5(NOTCH1):c.1555+6G>A
|
|
|
|
NM_017617.5(NOTCH1):c.1577A>G (p.Gln526Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.1601G>A (p.Ser534Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.1618G>C (p.Gly540Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.1648T>C (p.Tyr550His)
|
|
|
|
NM_017617.5(NOTCH1):c.1661G>A (p.Cys554Tyr)
|
rs2133365061
|
|
|
NM_017617.5(NOTCH1):c.1669+3G>A
|
|
|
|
NM_017617.5(NOTCH1):c.1669+4C>A
|
rs1227337588
|
|
|
NM_017617.5(NOTCH1):c.1669+4C>T
|
|
|
|
NM_017617.5(NOTCH1):c.1670-7G>A
|
|
|
|
NM_017617.5(NOTCH1):c.1679G>A (p.Gly560Glu)
|
|
|
|
NM_017617.5(NOTCH1):c.1684C>T (p.His562Tyr)
|
|
|
|
NM_017617.5(NOTCH1):c.1698C>G (p.Asp566Glu)
|
|
|
|
NM_017617.5(NOTCH1):c.16G>A (p.Ala6Thr)
|
rs1564217184
|
|
|
NM_017617.5(NOTCH1):c.1701C>G (p.Ile567Met)
|
rs773932034
|
|
|
NM_017617.5(NOTCH1):c.170G>A (p.Cys57Tyr)
|
|
|
|
NM_017617.5(NOTCH1):c.1756A>G (p.Thr586Ala)
|
rs764854903
|
|
|
NM_017617.5(NOTCH1):c.1757C>T (p.Thr586Ile)
|
rs1843254040
|
|
|
NM_017617.5(NOTCH1):c.1769T>G (p.Leu590Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.1792C>T (p.His598Tyr)
|
rs1589066307
|
|
|
NM_017617.5(NOTCH1):c.1797C>A (p.His599Gln)
|
|
|
|
NM_017617.5(NOTCH1):c.1799G>T (p.Cys600Phe)
|
rs1843252800
|
|
|
NM_017617.5(NOTCH1):c.17C>A (p.Ala6Glu)
|
|
|
|
NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val)
|
rs878855023
|
|
|
NM_017617.5(NOTCH1):c.1815C>G (p.Asn605Lys)
|
rs781029850
|
|
|
NM_017617.5(NOTCH1):c.1861C>G (p.Arg621Gly)
|
rs774622686
|
|
|
NM_017617.5(NOTCH1):c.1871C>G (p.Ala624Gly)
|
|
|
|
NM_017617.5(NOTCH1):c.1888C>G (p.Leu630Val)
|
rs2133363294
|
|
|
NM_017617.5(NOTCH1):c.1892A>G (p.Lys631Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.1894G>A (p.Gly632Arg)
|
rs2133363267
|
|
|
NM_017617.5(NOTCH1):c.1896_1897delinsTG (p.Thr633Ala)
|
rs1843250416
|
|
|
NM_017617.5(NOTCH1):c.1903+15G>A
|
|
|
|
NM_017617.5(NOTCH1):c.1903+6C>G
|
|
|
|
NM_017617.5(NOTCH1):c.1904-3C>T
|
rs748118679
|
|
|
NM_017617.5(NOTCH1):c.1906C>T (p.Pro636Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.1936G>A (p.Ala646Thr)
|
|
|
|
NM_017617.5(NOTCH1):c.1945C>T (p.Pro649Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.1988A>G (p.Glu663Gly)
|
|
|
|
NM_017617.5(NOTCH1):c.199C>T (p.Pro67Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.200C>T (p.Pro67Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.2012C>A (p.Thr671Lys)
|
rs2133362310
|
|
|
NM_017617.5(NOTCH1):c.2012C>T (p.Thr671Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.2039A>G (p.Asp680Gly)
|
rs2133361218
|
|
|
NM_017617.5(NOTCH1):c.2041G>A (p.Glu681Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.2051G>C (p.Gly684Ala)
|
|
|
|
NM_017617.5(NOTCH1):c.2053A>T (p.Asn685Tyr)
|
|
|
|
NM_017617.5(NOTCH1):c.2054A>G (p.Asn685Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.2066A>G (p.Asn689Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.20C>T (p.Pro7Leu)
|
rs1554733804
|
|
|
NM_017617.5(NOTCH1):c.2125C>A (p.His709Asn)
|
rs2133360792
|
|
|
NM_017617.5(NOTCH1):c.2148G>C (p.Glu716Asp)
|
rs376468003
|
|
|
NM_017617.5(NOTCH1):c.214G>A (p.Gly72Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser)
|
rs1843232044
|
|
|
NM_017617.5(NOTCH1):c.2172C>G (p.Pro724=)
|
|
|
|
NM_017617.5(NOTCH1):c.2185G>A (p.Ala729Thr)
|
rs1400821402
|
|
|
NM_017617.5(NOTCH1):c.2185G>T (p.Ala729Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.2186C>T (p.Ala729Val)
|
rs1843231402
|
|
|
NM_017617.5(NOTCH1):c.2210A>T (p.Tyr737Phe)
|
|
|
|
NM_017617.5(NOTCH1):c.2220C>A (p.Asp740Glu)
|
|
|
|
NM_017617.5(NOTCH1):c.2226C>G (p.Asp742Glu)
|
rs201889382
|
|
|
NM_017617.5(NOTCH1):c.2243C>A (p.Thr748Asn)
|
rs1284149123
|
|
|
NM_017617.5(NOTCH1):c.2257A>C (p.Asn753His)
|
|
|
|
NM_017617.5(NOTCH1):c.2280C>A (p.Asn760Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.2293G>A (p.Gly765Ser)
|
rs993388875
|
|
|
NM_017617.5(NOTCH1):c.2296G>C (p.Gly766Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.2314A>C (p.Thr772Pro)
|
|
|
|
NM_017617.5(NOTCH1):c.2315C>A (p.Thr772Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.2318G>A (p.Ser773Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.2318G>C (p.Ser773Thr)
|
rs758073507
|
|
|
NM_017617.5(NOTCH1):c.2326_2328del (p.Val776del)
|
|
|
|
NM_017617.5(NOTCH1):c.2336G>C (p.Cys779Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.2351G>C (p.Ser784Thr)
|
|
|
|
NM_017617.5(NOTCH1):c.236G>A (p.Arg79His)
|
rs768517628
|
|
|
NM_017617.5(NOTCH1):c.2377_2379del (p.Asn793del)
|
rs587778561
|
|
|
NM_017617.5(NOTCH1):c.2378A>T (p.Asn793Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.2379C>G (p.Asn793Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.2405A>G (p.Asn802Ser)
|
rs2133358091
|
|
|
NM_017617.5(NOTCH1):c.2410G>C (p.Gly804Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.2416T>A (p.Cys806Ser)
|
rs1805487567
|
|
|
NM_017617.5(NOTCH1):c.2420T>C (p.Ile807Thr)
|
rs1265223880
|
|
|
NM_017617.5(NOTCH1):c.2428G>C (p.Val810Leu)
|
rs948647691
|
|
|
NM_017617.5(NOTCH1):c.242G>T (p.Gly81Val)
|
|
|
|
NM_017617.5(NOTCH1):c.2435G>C (p.Gly812Ala)
|
rs1843208318
|
|
|
NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp)
|
rs1589064290
|
|
|
NM_017617.5(NOTCH1):c.244G>T (p.Val82Leu)
|
rs571831870
|
|
|
NM_017617.5(NOTCH1):c.2452C>G (p.Leu818Val)
|
rs199841979
|
|
|
NM_017617.5(NOTCH1):c.2466A>G (p.Thr822=)
|
|
|
|
NM_017617.5(NOTCH1):c.2467+7G>T
|
rs1843207149
|
|
|
NM_017617.5(NOTCH1):c.2468-5C>A
|
rs932196144
|
|
|
NM_017617.5(NOTCH1):c.2491G>A (p.Ala831Thr)
|
|
|
|
NM_017617.5(NOTCH1):c.2501C>G (p.Ala834Gly)
|
rs202144877
|
|
|
NM_017617.5(NOTCH1):c.2504_2506del (p.Pro835_Ser836delinsArg)
|
|
|
|
NM_017617.5(NOTCH1):c.2509C>T (p.Pro837Ser)
|
rs1843176956
|
|
|
NM_017617.5(NOTCH1):c.2520CGG[1] (p.Gly842del)
|
rs754554370
|
|
|
NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys)
|
rs750170645
|
|
|
NM_017617.5(NOTCH1):c.2540C>G (p.Ser847Cys)
|
|
|
|
NM_017617.5(NOTCH1):c.254A>G (p.Tyr85Cys)
|
|
|
|
NM_017617.5(NOTCH1):c.2558T>G (p.Phe853Cys)
|
rs1843175664
|
|
|
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del)
|
rs779164170
|
|
|
NM_017617.5(NOTCH1):c.256G>T (p.Ala86Ser)
|
rs373941045
|
|
|
NM_017617.5(NOTCH1):c.2580C>T (p.Gly860=)
|
rs761604720
|
|
|
NM_017617.5(NOTCH1):c.260G>A (p.Cys87Tyr)
|
|
|
|
NM_017617.5(NOTCH1):c.2613C>G (p.Asn871Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.2623C>A (p.Leu875Met)
|
|
|
|
NM_017617.5(NOTCH1):c.262A>G (p.Ser88Gly)
|
|
|
|
NM_017617.5(NOTCH1):c.2636G>T (p.Arg879Leu)
|
rs368011392
|
|
|
NM_017617.5(NOTCH1):c.2655G>C (p.Gln885His)
|
rs2133353313
|
|
|
NM_017617.5(NOTCH1):c.2666G>T (p.Gly889Val)
|
rs1554728783
|
|
|
NM_017617.5(NOTCH1):c.2677T>C (p.Cys893Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.2677T>G (p.Cys893Gly)
|
|
|
|
NM_017617.5(NOTCH1):c.2689G>A (p.Ala897Thr)
|
rs2133353126
|
|
|
NM_017617.5(NOTCH1):c.2699G>A (p.Ser900Asn)
|
rs1589062647
|
|
|
NM_017617.5(NOTCH1):c.269_270delinsTG (p.Ala90Val)
|
rs1554730737
|
|
|
NM_017617.5(NOTCH1):c.2702G>A (p.Gly901Glu)
|
|
|
|
NM_017617.5(NOTCH1):c.2710T>C (p.Cys904Arg)
|
rs1843166003
|
|
|
NM_017617.5(NOTCH1):c.2717C>T (p.Thr906Ile)
|
rs2133352988
|
|
|
NM_017617.5(NOTCH1):c.272T>C (p.Leu91Pro)
|
|
|
|
NM_017617.5(NOTCH1):c.2741-6T>A
|
rs2133351503
|
|
|
NM_017617.5(NOTCH1):c.2743C>G (p.Pro915Ala)
|
rs878855024
|
|
|
NM_017617.5(NOTCH1):c.2759G>A (p.Gly920Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.2768C>T (p.Thr923Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.277T>G (p.Phe93Val)
|
|
|
|
NM_017617.5(NOTCH1):c.2806G>C (p.Gly936Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.2834A>T (p.Asp945Val)
|
|
|
|
NM_017617.5(NOTCH1):c.2839_2841del (p.Asn947del)
|
|
|
|
NM_017617.5(NOTCH1):c.2849C>T (p.Ala950Val)
|
rs777658333
|
|
|
NM_017617.5(NOTCH1):c.2851A>G (p.Ser951Gly)
|
rs1843150410
|
|
|
NM_017617.5(NOTCH1):c.2868C>A (p.Asn956Lys)
|
rs760227470
|
|
|
NM_017617.5(NOTCH1):c.2890G>A (p.Val964Met)
|
|
|
|
NM_017617.5(NOTCH1):c.2898_2899delinsGA (p.Ser966_Tyr967delinsArgAsn)
|
rs1843149230
|
|
|
NM_017617.5(NOTCH1):c.2918C>T (p.Ala973Val)
|
|
|
|
NM_017617.5(NOTCH1):c.2950A>G (p.Thr984Ala)
|
rs1843147969
|
|
|
NM_017617.5(NOTCH1):c.2952G>C (p.Thr984=)
|
|
|
|
NM_017617.5(NOTCH1):c.2963C>T (p.Thr988Ile)
|
rs1843147704
|
|
|
NM_017617.5(NOTCH1):c.2969+18G>A
|
|
|
|
NM_017617.5(NOTCH1):c.2969+2TG[3]
|
|
|
|
NM_017617.5(NOTCH1):c.2969+6C>T
|
|
|
|
NM_017617.5(NOTCH1):c.299C>T (p.Thr100Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.3016A>T (p.Thr1006Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.3045C>T (p.Gly1015=)
|
rs2133348920
|
|
|
NM_017617.5(NOTCH1):c.305T>G (p.Leu102Arg)
|
rs2133379239
|
|
|
NM_017617.5(NOTCH1):c.3061G>C (p.Asp1021His)
|
|
|
|
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile)
|
rs886039138
|
|
|
NM_017617.5(NOTCH1):c.3109C>G (p.Gln1037Glu)
|
rs878855025
|
|
|
NM_017617.5(NOTCH1):c.3110A>G (p.Gln1037Arg)
|
rs1408874772
|
|
|
NM_017617.5(NOTCH1):c.3112G>A (p.Asp1038Asn)
|
rs2133348754
|
|
|
NM_017617.5(NOTCH1):c.3118T>C (p.Cys1040Arg)
|
rs1060502235
|
|
|
NM_017617.5(NOTCH1):c.3137C>A (p.Thr1046Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.3140G>A (p.Cys1047Tyr)
|
rs1843132240
|
|
|
NM_017617.5(NOTCH1):c.3143C>A (p.Pro1048His)
|
|
|
|
NM_017617.5(NOTCH1):c.3155C>T (p.Thr1052Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.3165C>A (p.Asn1055Lys)
|
rs1431940702
|
|
|
NM_017617.5(NOTCH1):c.3171+3G>A
|
|
|
|
NM_017617.5(NOTCH1):c.3171+6del
|
|
|
|
NM_017617.5(NOTCH1):c.3181C>T (p.His1061Tyr)
|
rs766126767
|
|
|
NM_017617.5(NOTCH1):c.3221G>A (p.Cys1074Tyr)
|
rs1843122994
|
|
|
NM_017617.5(NOTCH1):c.3230C>T (p.Thr1077Ile)
|
rs1843122920
|
|
|
NM_017617.5(NOTCH1):c.3232C>T (p.His1078Tyr)
|
rs1233569898
|
|
|
NM_017617.5(NOTCH1):c.3236C>T (p.Thr1079Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.3245G>T (p.Arg1082Leu)
|
rs758471372
|
|
|
NM_017617.5(NOTCH1):c.3250G>C (p.Glu1084Gln)
|
rs766361207
|
|
|
NM_017617.5(NOTCH1):c.3257C>G (p.Pro1086Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.3260G>A (p.Ser1087Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg)
|
rs531420022
|
|
|
NM_017617.5(NOTCH1):c.3263G>A (p.Gly1088Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.3271G>T (p.Gly1091Cys)
|
|
|
|
NM_017617.5(NOTCH1):c.3295G>A (p.Val1099Met)
|
|
|
|
NM_017617.5(NOTCH1):c.3295G>T (p.Val1099Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.3326G>C (p.Gly1109Ala)
|
rs772310059
|
|
|
NM_017617.5(NOTCH1):c.3344T>C (p.Leu1115Pro)
|
|
|
|
NM_017617.5(NOTCH1):c.3353A>G (p.His1118Arg)
|
rs1843118145
|
|
|
NM_017617.5(NOTCH1):c.3356G>T (p.Gly1119Val)
|
|
|
|
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His)
|
rs768625801
|
|
|
NM_017617.5(NOTCH1):c.3365G>A (p.Cys1122Tyr)
|
rs1589060802
|
|
|
NM_017617.5(NOTCH1):c.3370G>A (p.Asp1124Asn)
|
rs1564192948
|
|
|
NM_017617.5(NOTCH1):c.3395G>A (p.Arg1132His)
|
rs1336014812
|
|
|
NM_017617.5(NOTCH1):c.3401_3402delinsTT (p.Gln1134Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.3403G>A (p.Ala1135Thr)
|
rs1554728380
|
|
|
NM_017617.5(NOTCH1):c.3451C>T (p.Pro1151Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.3455G>C (p.Ser1152Thr)
|
rs1843116111
|
|
|
NM_017617.5(NOTCH1):c.3456C>A (p.Ser1152Arg)
|
rs1354855330
|
|
|
NM_017617.5(NOTCH1):c.3465G>C (p.Gln1155His)
|
|
|
|
NM_017617.5(NOTCH1):c.3510+17G>A
|
|
|
|
NM_017617.5(NOTCH1):c.3510+18G>A
|
|
|
|
NM_017617.5(NOTCH1):c.3510+3G>C
|
rs372739350
|
|
|
NM_017617.5(NOTCH1):c.3520G>A (p.Gly1174Ser)
|
rs1272399533
|
|
|
NM_017617.5(NOTCH1):c.3530G>C (p.Gly1177Ala)
|
|
|
|
NM_017617.5(NOTCH1):c.3537C>G (p.Asn1179Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.3539G>A (p.Cys1180Tyr)
|
rs1218904003
|
|
|
NM_017617.5(NOTCH1):c.3541T>C (p.Ser1181Pro)
|
|
|
|
NM_017617.5(NOTCH1):c.3544GAG[1] (p.Glu1183del)
|
rs1370411882
|
|
|
NM_017617.5(NOTCH1):c.3550A>T (p.Ile1184Phe)
|
|
|
|
NM_017617.5(NOTCH1):c.3551T>C (p.Ile1184Thr)
|
|
|
|
NM_017617.5(NOTCH1):c.3556G>A (p.Glu1186Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.3596T>C (p.Leu1199Pro)
|
|
|
|
NM_017617.5(NOTCH1):c.35C>T (p.Ala12Val)
|
rs1473062369
|
|
|
NM_017617.5(NOTCH1):c.3604C>T (p.Pro1202Ser)
|
rs1554728268
|
|
|
NM_017617.5(NOTCH1):c.3609C>A (p.Asn1203Lys)
|
rs1843104558
|
|
|
NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser)
|
rs750536437
|
|
|
NM_017617.5(NOTCH1):c.3667G>T (p.Asp1223Tyr)
|
|
|
|
NM_017617.5(NOTCH1):c.3683C>T (p.Pro1228Leu)
|
rs561646185
|
|
|
NM_017617.5(NOTCH1):c.3689A>C (p.Asp1230Ala)
|
|
|
|
NM_017617.5(NOTCH1):c.3692C>A (p.Pro1231His)
|
|
|
|
NM_017617.5(NOTCH1):c.3707C>T (p.Pro1236Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.3715T>C (p.Phe1239Leu)
|
rs1478449371
|
|
|
NM_017617.5(NOTCH1):c.3725G>C (p.Gly1242Ala)
|
|
|
|
NM_017617.5(NOTCH1):c.3728C>T (p.Thr1243Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.3730T>G (p.Cys1244Gly)
|
|
|
|
NM_017617.5(NOTCH1):c.3732C>G (p.Cys1244Trp)
|
|
|
|
NM_017617.5(NOTCH1):c.3747C>T (p.Gly1249=)
|
|
|
|
NM_017617.5(NOTCH1):c.374A>T (p.Tyr125Phe)
|
rs779240492
|
|
|
NM_017617.5(NOTCH1):c.376A>G (p.Lys126Glu)
|
rs1589072528
|
|
|
NM_017617.5(NOTCH1):c.3770C>G (p.Pro1257Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.3778G>T (p.Val1260Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.3812G>A (p.Cys1271Tyr)
|
|
|
|
NM_017617.5(NOTCH1):c.3832G>A (p.Ala1278Thr)
|
rs1406056612
|
|
|
NM_017617.5(NOTCH1):c.3852C>G (p.Cys1284Trp)
|
rs377289044
|
|
|
NM_017617.5(NOTCH1):c.3868G>A (p.Asp1290Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.3870C>G (p.Asp1290Glu)
|
|
|
|
NM_017617.5(NOTCH1):c.3880G>A (p.Glu1294Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.3886C>A (p.Arg1296Ser)
|
rs1056341092
|
|
|
NM_017617.5(NOTCH1):c.3890C>T (p.Ala1297Val)
|
|
|
|
NM_017617.5(NOTCH1):c.3900C>G (p.Thr1300=)
|
|
|
|
NM_017617.5(NOTCH1):c.3901+4G>A
|
|
|
|
NM_017617.5(NOTCH1):c.3901+5G>A
|
|
|
|
NM_017617.5(NOTCH1):c.3913G>C (p.Glu1305Gln)
|
|
|
|
NM_017617.5(NOTCH1):c.3936A>C (p.Lys1312Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.394G>A (p.Gly132Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.3974C>A (p.Ala1325Asp)
|
rs896438598
|
|
|
NM_017617.5(NOTCH1):c.4001G>A (p.Cys1334Tyr)
|
|
|
|
NM_017617.5(NOTCH1):c.4014+9A>G
|
rs1843087537
|
|
|
NM_017617.5(NOTCH1):c.4014G>C (p.Ala1338=)
|
rs377217445
|
|
|
NM_017617.5(NOTCH1):c.4015-6G>A
|
|
|
|
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala)
|
rs1131692021
|
|
|
NM_017617.5(NOTCH1):c.4025G>A (p.Gly1342Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.403+3G>A
|
|
|
|
NM_017617.5(NOTCH1):c.403+3del
|
rs2133378865
|
|
|
NM_017617.5(NOTCH1):c.4045G>A (p.Ala1349Thr)
|
rs553328686
|
|
|
NM_017617.5(NOTCH1):c.4049G>C (p.Arg1350Pro)
|
rs150343794
|
|
|
NM_017617.5(NOTCH1):c.4064T>C (p.Leu1355Pro)
|
rs1589059022
|
|
|
NM_017617.5(NOTCH1):c.4081G>A (p.Gly1361Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.4091T>C (p.Ile1364Thr)
|
|
|
|
NM_017617.5(NOTCH1):c.4112C>T (p.Thr1371Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.4130C>T (p.Pro1377Leu)
|
rs1843073620
|
|
|
NM_017617.5(NOTCH1):c.4141C>T (p.Pro1381Ser)
|
rs1589058950
|
|
|
NM_017617.5(NOTCH1):c.4142C>T (p.Pro1381Leu)
|
rs752551426
|
|
|
NM_017617.5(NOTCH1):c.4162A>C (p.Ser1388Arg)
|
rs2133340569
|
|
|
NM_017617.5(NOTCH1):c.4169C>T (p.Pro1390Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.4181G>A (p.Gly1394Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.4185C>A (p.Asn1395Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.4213C>T (p.Pro1405Ser)
|
rs1416597670
|
|
|
NM_017617.5(NOTCH1):c.4214C>T (p.Pro1405Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.4228C>T (p.Pro1410Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.4235A>G (p.Tyr1412Cys)
|
rs2133340251
|
|
|
NM_017617.5(NOTCH1):c.4237C>T (p.Arg1413Cys)
|
rs1348438354
|
|
|
NM_017617.5(NOTCH1):c.4282C>G (p.Leu1428Val)
|
rs1363126385
|
|
|
NM_017617.5(NOTCH1):c.4297G>C (p.Gly1433Arg)
|
rs751904604
|
|
|
NM_017617.5(NOTCH1):c.4304G>C (p.Gly1435Ala)
|
rs1247192040
|
|
|
NM_017617.5(NOTCH1):c.4312C>A (p.Arg1438Ser)
|
rs746077264
|
|
|
NM_017617.5(NOTCH1):c.4327C>A (p.Pro1443Thr)
|
|
|
|
NM_017617.5(NOTCH1):c.436_450dup (p.Ala150_Asn151insSerAsnProCysAla)
|
|
|
|
NM_017617.5(NOTCH1):c.4383G>T (p.Lys1461Asn)
|
rs2133339457
|
|
|
NM_017617.5(NOTCH1):c.4384G>A (p.Val1462Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.4393C>G (p.Leu1465Val)
|
rs779863069
|
|
|
NM_017617.5(NOTCH1):c.4411G>A (p.Ala1471Thr)
|
rs1414066424
|
|
|
NM_017617.5(NOTCH1):c.4411G>T (p.Ala1471Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.4412C>A (p.Ala1471Glu)
|
|
|
|
NM_017617.5(NOTCH1):c.4412C>G (p.Ala1471Gly)
|
rs376799353
|
|
|
NM_017617.5(NOTCH1):c.4444A>G (p.Asn1482Asp)
|
rs1843065776
|
|
|
NM_017617.5(NOTCH1):c.4449C>G (p.Phe1483Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.4450A>G (p.Asn1484Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.4467C>G (p.Asn1489Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.4468T>G (p.Cys1490Gly)
|
rs1843065225
|
|
|
NM_017617.5(NOTCH1):c.4481T>G (p.Leu1494Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.44C>G (p.Pro15Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.4507G>C (p.Gly1503Arg)
|
rs1243264280
|
|
|
NM_017617.5(NOTCH1):c.4513T>C (p.Cys1505Arg)
|
rs1843064220
|
|
|
NM_017617.5(NOTCH1):c.4520G>A (p.Ser1507Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.4586+6G>T
|
|
|
|
NM_017617.5(NOTCH1):c.4587-8C>A
|
rs1470543120
|
|
|
NM_017617.5(NOTCH1):c.4622G>C (p.Ser1541Thr)
|
|
|
|
NM_017617.5(NOTCH1):c.4627G>A (p.Gly1543Arg)
|
rs533102436
|
|
|
NM_017617.5(NOTCH1):c.4640A>G (p.Gln1547Arg)
|
rs1055806143
|
|
|
NM_017617.5(NOTCH1):c.4643G>A (p.Gly1548Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.4664A>C (p.Glu1555Ala)
|
rs781602537
|
|
|
NM_017617.5(NOTCH1):c.4675C>A (p.Leu1559Met)
|
|
|
|
NM_017617.5(NOTCH1):c.4685C>A (p.Ala1562Glu)
|
|
|
|
NM_017617.5(NOTCH1):c.4699G>A (p.Glu1567Lys)
|
rs1333725995
|
|
|
NM_017617.5(NOTCH1):c.4740G>A (p.Met1580Ile)
|
rs990474354
|
|
|
NM_017617.5(NOTCH1):c.4741C>T (p.Pro1581Ser)
|
rs769288225
|
|
|
NM_017617.5(NOTCH1):c.4761C>G (p.Asn1587Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.4763G>A (p.Ser1588Asn)
|
rs1843055486
|
|
|
NM_017617.5(NOTCH1):c.4765T>C (p.Ser1589Pro)
|
rs1490218456
|
|
|
NM_017617.5(NOTCH1):c.4773C>G (p.His1591Gln)
|
|
|
|
NM_017617.5(NOTCH1):c.4776C>A (p.Phe1592Leu)
|
rs752861485
|
|
|
NM_017617.5(NOTCH1):c.4778T>C (p.Leu1593Pro)
|
|
|
|
NM_017617.5(NOTCH1):c.4790G>T (p.Ser1597Ile)
|
rs1564190486
|
|
|
NM_017617.5(NOTCH1):c.4802A>G (p.His1601Arg)
|
rs2133336705
|
|
|
NM_017617.5(NOTCH1):c.4815_4816insCCCCCC (p.Val1605_Phe1606insProPro)
|
|
|
|
NM_017617.5(NOTCH1):c.4820A>G (p.Lys1607Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.4829C>T (p.Ala1610Val)
|
rs1554727837
|
|
|
NM_017617.5(NOTCH1):c.4834G>A (p.Gly1612Ser)
|
rs1166328821
|
|
|
NM_017617.5(NOTCH1):c.4853C>A (p.Pro1618His)
|
|
|
|
NM_017617.5(NOTCH1):c.4855TAC[1] (p.Tyr1620del)
|
|
|
|
NM_017617.5(NOTCH1):c.485A>G (p.Tyr162Cys)
|
|
|
|
NM_017617.5(NOTCH1):c.4870G>C (p.Glu1624Gln)
|
rs1843052920
|
|
|
NM_017617.5(NOTCH1):c.4908G>T (p.Glu1636Asp)
|
rs1275439825
|
|
|
NM_017617.5(NOTCH1):c.4915G>A (p.Ala1639Thr)
|
rs878855026
|
|
|
NM_017617.5(NOTCH1):c.4927G>C (p.Ala1643Pro)
|
|
|
|
NM_017617.5(NOTCH1):c.4931T>C (p.Leu1644Pro)
|
|
|
|
NM_017617.5(NOTCH1):c.4941G>A (p.Gln1647=)
|
rs1589058142
|
|
|
NM_017617.5(NOTCH1):c.4953GCT[1] (p.Leu1653del)
|
|
|
|
NM_017617.5(NOTCH1):c.4961C>A (p.Pro1654His)
|
rs1381525257
|
|
|
NM_017617.5(NOTCH1):c.4969A>T (p.Ser1657Cys)
|
|
|
|
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln)
|
rs774808496
|
|
|
NM_017617.5(NOTCH1):c.4987C>T (p.Arg1663Trp)
|
|
|
|
NM_017617.5(NOTCH1):c.4988G>T (p.Arg1663Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.5006T>C (p.Met1669Thr)
|
|
|
|
NM_017617.5(NOTCH1):c.5007G>A (p.Met1669Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.5018+5G>A
|
|
|
|
NM_017617.5(NOTCH1):c.5018+6_5018+9del
|
|
|
|
NM_017617.5(NOTCH1):c.5019-3C>T
|
|
|
|
NM_017617.5(NOTCH1):c.5026G>A (p.Val1676Ile)
|
rs1261408162
|
|
|
NM_017617.5(NOTCH1):c.5057T>G (p.Val1686Gly)
|
|
|
|
NM_017617.5(NOTCH1):c.5101G>A (p.Ala1701Thr)
|
rs1443819558
|
|
|
NM_017617.5(NOTCH1):c.5128G>C (p.Gly1710Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.5137A>G (p.Asn1713Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.5138A>C (p.Asn1713Thr)
|
rs200053816
|
|
|
NM_017617.5(NOTCH1):c.5140A>G (p.Ile1714Val)
|
rs2133333190
|
|
|
NM_017617.5(NOTCH1):c.5161G>A (p.Val1721Met)
|
|
|
|
NM_017617.5(NOTCH1):c.5167+3A>G
|
rs1025172473
|
|
|
NM_017617.5(NOTCH1):c.5168G>A (p.Ser1723Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.5176G>A (p.Val1726Met)
|
|
|
|
NM_017617.5(NOTCH1):c.5181G>T (p.Glu1727Asp)
|
rs1843014055
|
|
|
NM_017617.5(NOTCH1):c.5191C>A (p.Pro1731Thr)
|
|
|
|
NM_017617.5(NOTCH1):c.520A>C (p.Thr174Pro)
|
rs771225163
|
|
|
NM_017617.5(NOTCH1):c.5211G>T (p.Met1737Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.523T>G (p.Cys175Gly)
|
|
|
|
NM_017617.5(NOTCH1):c.5256C>G (p.Cys1752Trp)
|
|
|
|
NM_017617.5(NOTCH1):c.5270C>T (p.Ser1757Phe)
|
rs1843012177
|
|
|
NM_017617.5(NOTCH1):c.527_528delinsTT (p.Arg176Leu)
|
rs1564203258
|
|
|
NM_017617.5(NOTCH1):c.5285G>A (p.Arg1762Gln)
|
rs942439472
|
|
|
NM_017617.5(NOTCH1):c.5296C>A (p.Gln1766Lys)
|
rs1843011278
|
|
|
NM_017617.5(NOTCH1):c.5297A>G (p.Gln1766Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.5299C>G (p.Leu1767Val)
|
|
|
|
NM_017617.5(NOTCH1):c.5326T>G (p.Ser1776Ala)
|
|
|
|
NM_017617.5(NOTCH1):c.5332G>C (p.Ala1778Pro)
|
rs986394043
|
|
|
NM_017617.5(NOTCH1):c.5333C>G (p.Ala1778Gly)
|
rs1422917398
|
|
|
NM_017617.5(NOTCH1):c.5350C>G (p.Arg1784Gly)
|
rs1843010487
|
|
|
NM_017617.5(NOTCH1):c.5356C>T (p.Pro1786Ser)
|
rs1843010413
|
|
|
NM_017617.5(NOTCH1):c.5362G>A (p.Gly1788Ser)
|
rs1843010334
|
|
|
NM_017617.5(NOTCH1):c.5385-2dup
|
|
|
|
NM_017617.5(NOTCH1):c.5385-3C>T
|
|
|
|
NM_017617.5(NOTCH1):c.5386C>T (p.Pro1796Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.538A>G (p.Asn180Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.5418G>A (p.Met1806Ile)
|
rs556708225
|
|
|
NM_017617.5(NOTCH1):c.5423A>G (p.Asp1808Gly)
|
rs1589056398
|
|
|
NM_017617.5(NOTCH1):c.5434G>A (p.Glu1812Lys)
|
rs1843005451
|
|
|
NM_017617.5(NOTCH1):c.5447A>G (p.Glu1816Gly)
|
rs2133329831
|
|
|
NM_017617.5(NOTCH1):c.5455G>C (p.Glu1819Gln)
|
rs2133329789
|
|
|
NM_017617.5(NOTCH1):c.5462A>G (p.Lys1821Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.5470C>T (p.Arg1824Trp)
|
|
|
|
NM_017617.5(NOTCH1):c.5471G>T (p.Arg1824Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.5479G>A (p.Glu1827Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.547G>C (p.Gly183Arg)
|
rs1843399830
|
|
|
NM_017617.5(NOTCH1):c.5500C>G (p.Leu1834Val)
|
rs73668312
|
|
|
NM_017617.5(NOTCH1):c.5508C>A (p.Asp1836Glu)
|
|
|
|
NM_017617.5(NOTCH1):c.5519A>G (p.His1840Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.5535_5536delinsAA (p.Gln1846Lys)
|
rs878855027
|
|
|
NM_017617.5(NOTCH1):c.5540A>C (p.His1847Pro)
|
rs1843001736
|
|
|
NM_017617.5(NOTCH1):c.5563A>C (p.Met1855Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.5567C>A (p.Ser1856Tyr)
|
|
|
|
NM_017617.5(NOTCH1):c.556C>T (p.Pro186Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.5570C>G (p.Ala1857Gly)
|
rs1370862526
|
|
|
NM_017617.5(NOTCH1):c.557C>T (p.Pro186Leu)
|
rs2133377659
|
|
|
NM_017617.5(NOTCH1):c.5591A>G (p.Gln1864Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.5594G>A (p.Gly1865Asp)
|
rs2133328665
|
|
|
NM_017617.5(NOTCH1):c.5599G>T (p.Val1867Phe)
|
|
|
|
NM_017617.5(NOTCH1):c.5603A>T (p.Asp1868Val)
|
|
|
|
NM_017617.5(NOTCH1):c.5612G>T (p.Cys1871Phe)
|
|
|
|
NM_017617.5(NOTCH1):c.5630G>A (p.Arg1877His)
|
|
|
|
NM_017617.5(NOTCH1):c.5651C>T (p.Pro1884Leu)
|
rs545259523
|
|
|
NM_017617.5(NOTCH1):c.5671A>G (p.Ser1891Gly)
|
rs2133326726
|
|
|
NM_017617.5(NOTCH1):c.5678G>T (p.Gly1893Val)
|
rs1292487339
|
|
|
NM_017617.5(NOTCH1):c.5697C>A (p.Asn1899Lys)
|
rs747229390
|
|
|
NM_017617.5(NOTCH1):c.5698A>G (p.Ser1900Gly)
|
rs200190466
|
|
|
NM_017617.5(NOTCH1):c.5712G>T (p.Glu1904Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.5731T>C (p.Ser1911Pro)
|
rs2133326413
|
|
|
NM_017617.5(NOTCH1):c.5739C>T (p.Phe1913=)
|
|
|
|
NM_017617.5(NOTCH1):c.5763C>G (p.His1921Gln)
|
|
|
|
NM_017617.5(NOTCH1):c.5766C>A (p.Asn1922Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.5768A>G (p.Gln1923Arg)
|
rs1842981791
|
|
|
NM_017617.5(NOTCH1):c.5780C>T (p.Thr1927Met)
|
rs1554826860
|
|
|
NM_017617.5(NOTCH1):c.578G>T (p.Gly193Val)
|
rs774966208
|
|
|
NM_017617.5(NOTCH1):c.5795T>C (p.Leu1932Ser)
|
rs1842981231
|
|
|
NM_017617.5(NOTCH1):c.5806G>T (p.Ala1936Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His)
|
rs897872809
|
|
|
NM_017617.5(NOTCH1):c.5829C>A (p.Ala1943=)
|
rs1036442909
|
|
|
NM_017617.5(NOTCH1):c.5836C>G (p.Arg1946Gly)
|
|
|
|
NM_017617.5(NOTCH1):c.5888C>A (p.Thr1963Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.5899G>A (p.Ala1967Thr)
|
|
|
|
NM_017617.5(NOTCH1):c.5905G>A (p.Val1969Met)
|
rs1842979490
|
|
|
NM_017617.5(NOTCH1):c.5920C>A (p.Gln1974Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.5934+6C>T
|
|
|
|
NM_017617.5(NOTCH1):c.5965G>C (p.Asp1989His)
|
|
|
|
NM_017617.5(NOTCH1):c.59G>T (p.Arg20Leu)
|
rs1554733799
|
|
|
NM_017617.5(NOTCH1):c.6000C>G (p.Ile2000Met)
|
|
|
|
NM_017617.5(NOTCH1):c.6010C>T (p.Arg2004Cys)
|
rs1589054589
|
|
|
NM_017617.5(NOTCH1):c.6026G>A (p.Gly2009Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.6029T>C (p.Met2010Thr)
|
rs2133322772
|
|
|
NM_017617.5(NOTCH1):c.607C>T (p.Arg203Cys)
|
|
|
|
NM_017617.5(NOTCH1):c.6082+3G>A
|
|
|
|
NM_017617.5(NOTCH1):c.6082+5G>A
|
rs1280026920
|
|
|
NM_017617.5(NOTCH1):c.6082+6C>G
|
|
|
|
NM_017617.5(NOTCH1):c.6083-3C>T
|
|
|
|
NM_017617.5(NOTCH1):c.6100T>C (p.Trp2034Arg)
|
rs1554826698
|
|
|
NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser)
|
rs1060502237
|
|
|
NM_017617.5(NOTCH1):c.6116A>G (p.Asn2039Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.6130G>T (p.Ala2044Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.6137T>C (p.Val2046Ala)
|
rs1374171839
|
|
|
NM_017617.5(NOTCH1):c.6147G>C (p.Lys2049Asn)
|
rs2133321599
|
|
|
NM_017617.5(NOTCH1):c.6152G>C (p.Gly2051Ala)
|
rs1589054356
|
|
|
NM_017617.5(NOTCH1):c.6157A>G (p.Asn2053Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.6175A>G (p.Asn2059Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.6180+1G>T
|
rs1842955649
|
|
|
NM_017617.5(NOTCH1):c.6180+3G>T
|
|
|
|
NM_017617.5(NOTCH1):c.6180+6C>T
|
|
|
|
NM_017617.5(NOTCH1):c.6197T>G (p.Phe2066Cys)
|
|
|
|
NM_017617.5(NOTCH1):c.619C>T (p.Arg207Cys)
|
|
|
|
NM_017617.5(NOTCH1):c.62-3T>C
|
rs2133406300
|
|
|
NM_017617.5(NOTCH1):c.6219C>G (p.Ser2073Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.6232A>G (p.Lys2078Glu)
|
rs1186927156
|
|
|
NM_017617.5(NOTCH1):c.6254C>G (p.Ala2085Gly)
|
rs1215496202
|
|
|
NM_017617.5(NOTCH1):c.6256A>T (p.Asn2086Tyr)
|
|
|
|
NM_017617.5(NOTCH1):c.6269C>T (p.Thr2090Met)
|
rs1215473021
|
|
|
NM_017617.5(NOTCH1):c.6275A>C (p.His2092Pro)
|
rs1554826539
|
|
|
NM_017617.5(NOTCH1):c.6284G>T (p.Arg2095Leu)
|
rs756874994
|
|
|
NM_017617.5(NOTCH1):c.6310C>T (p.Arg2104Cys)
|
rs1307220376
|
|
|
NM_017617.5(NOTCH1):c.6311G>A (p.Arg2104His)
|
rs1842934984
|
|
|
NM_017617.5(NOTCH1):c.6342C>G (p.Asp2114Glu)
|
rs746682300
|
|
|
NM_017617.5(NOTCH1):c.6365C>G (p.Pro2122Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.6373C>T (p.His2125Tyr)
|
rs2133318919
|
|
|
NM_017617.5(NOTCH1):c.637C>T (p.Pro213Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.6392del (p.Gly2131fs)
|
|
|
|
NM_017617.5(NOTCH1):c.6393C>T (p.Gly2131=)
|
rs1390112624
|
|
|
NM_017617.5(NOTCH1):c.6397C>A (p.Pro2133Thr)
|
rs61733294
|
|
|
NM_017617.5(NOTCH1):c.6413dup (p.Leu2139fs)
|
rs1842932983
|
|
|
NM_017617.5(NOTCH1):c.6424C>T (p.Pro2142Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.6428A>G (p.Asn2143Ser)
|
rs1085307778
|
|
|
NM_017617.5(NOTCH1):c.6451C>T (p.Pro2151Ser)
|
rs1842932370
|
|
|
NM_017617.5(NOTCH1):c.6463G>A (p.Gly2155Ser)
|
rs1035043614
|
|
|
NM_017617.5(NOTCH1):c.646G>A (p.Glu216Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.6470A>C (p.Lys2157Thr)
|
rs1564568574
|
|
|
NM_017617.5(NOTCH1):c.6489C>G (p.Ser2163Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.6500C>A (p.Ala2167Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.6503G>C (p.Cys2168Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.6512A>G (p.Lys2171Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.6517G>A (p.Ala2173Thr)
|
rs1060502234
|
|
|
NM_017617.5(NOTCH1):c.6551A>G (p.Gln2184Arg)
|
rs2133318027
|
|
|
NM_017617.5(NOTCH1):c.6552G>T (p.Gln2184His)
|
|
|
|
NM_017617.5(NOTCH1):c.6585C>T (p.Gly2195=)
|
rs1842929880
|
|
|
NM_017617.5(NOTCH1):c.6593C>G (p.Ser2198Trp)
|
|
|
|
NM_017617.5(NOTCH1):c.6598G>A (p.Val2200Met)
|
|
|
|
NM_017617.5(NOTCH1):c.65C>G (p.Pro22Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.6620A>G (p.His2207Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.6647C>G (p.Pro2216Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.6668T>C (p.Phe2223Ser)
|
rs1842928462
|
|
|
NM_017617.5(NOTCH1):c.6706G>A (p.Gly2236Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.670C>G (p.Pro224Ala)
|
|
|
|
NM_017617.5(NOTCH1):c.6712C>T (p.Pro2238Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.6724C>G (p.Leu2242Val)
|
|
|
|
NM_017617.5(NOTCH1):c.6738C>G (p.His2246Gln)
|
rs1842927243
|
|
|
NM_017617.5(NOTCH1):c.6740T>C (p.Leu2247Pro)
|
|
|
|
NM_017617.5(NOTCH1):c.6744C>G (p.Asn2248Lys)
|
rs372771288
|
|
|
NM_017617.5(NOTCH1):c.6748G>A (p.Ala2250Thr)
|
rs1436539393
|
|
|
NM_017617.5(NOTCH1):c.677C>T (p.Pro226Leu)
|
rs1843395886
|
|
|
NM_017617.5(NOTCH1):c.6791T>A (p.Leu2264Gln)
|
rs2133317177
|
|
|
NM_017617.5(NOTCH1):c.6793G>C (p.Ala2265Pro)
|
|
|
|
NM_017617.5(NOTCH1):c.6810_6812del (p.Pro2271del)
|
|
|
|
NM_017617.5(NOTCH1):c.6851C>T (p.Thr2284Ile)
|
rs1341934554
|
|
|
NM_017617.5(NOTCH1):c.6857T>A (p.Leu2286Gln)
|
|
|
|
NM_017617.5(NOTCH1):c.6869G>A (p.Ser2290Asn)
|
rs763183789
|
|
|
NM_017617.5(NOTCH1):c.6869G>T (p.Ser2290Ile)
|
rs763183789
|
|
|
NM_017617.5(NOTCH1):c.6880C>G (p.Leu2294Val)
|
|
|
|
NM_017617.5(NOTCH1):c.6905C>T (p.Thr2302Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.6923G>T (p.Cys2308Phe)
|
|
|
|
NM_017617.5(NOTCH1):c.6924C>G (p.Cys2308Trp)
|
rs756653663
|
|
|
NM_017617.5(NOTCH1):c.6944A>C (p.Gln2315Pro)
|
|
|
|
NM_017617.5(NOTCH1):c.6947G>A (p.Ser2316Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.6950G>C (p.Gly2317Ala)
|
|
|
|
NM_017617.5(NOTCH1):c.6980G>C (p.Arg2327Pro)
|
|
|
|
NM_017617.5(NOTCH1):c.6986G>C (p.Ser2329Thr)
|
|
|
|
NM_017617.5(NOTCH1):c.7001C>G (p.Pro2334Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.7010C>T (p.Thr2337Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.7029G>C (p.Gln2343His)
|
|
|
|
NM_017617.5(NOTCH1):c.7036A>G (p.Met2346Val)
|
|
|
|
NM_017617.5(NOTCH1):c.7039_7047del (p.Val2347_Pro2349del)
|
|
|
|
NM_017617.5(NOTCH1):c.7042G>A (p.Gly2348Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.7069A>T (p.Ser2357Cys)
|
|
|
|
NM_017617.5(NOTCH1):c.7072G>A (p.Ala2358Thr)
|
rs780869345
|
|
|
NM_017617.5(NOTCH1):c.7110C>A (p.Ser2370Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.7121C>T (p.Ala2374Val)
|
rs2133316248
|
|
|
NM_017617.5(NOTCH1):c.7138G>C (p.Val2380Leu)
|
rs769693988
|
|
|
NM_017617.5(NOTCH1):c.7145C>T (p.Thr2382Ile)
|
rs1564567924
|
|
|
NM_017617.5(NOTCH1):c.7147C>T (p.Gln2383Ter)
|
rs759362012
|
|
|
NM_017617.5(NOTCH1):c.715G>A (p.Val239Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.7175T>A (p.Met2392Lys)
|
rs1036612594
|
|
|
NM_017617.5(NOTCH1):c.7175T>C (p.Met2392Thr)
|
rs1036612594
|
|
|
NM_017617.5(NOTCH1):c.7177C>G (p.Gln2393Glu)
|
|
|
|
NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg)
|
rs1842918022
|
|
|
NM_017617.5(NOTCH1):c.7193A>G (p.Gln2398Arg)
|
rs1564567879
|
|
|
NM_017617.5(NOTCH1):c.7198G>A (p.Ala2400Thr)
|
rs1842917839
|
|
|
NM_017617.5(NOTCH1):c.7209G>C (p.Gln2403His)
|
rs61751486
|
|
|
NM_017617.5(NOTCH1):c.7222C>G (p.Leu2408Val)
|
|
|
|
NM_017617.5(NOTCH1):c.7232CAC[6] (p.Pro2415dup)
|
rs762336270
|
|
|
NM_017617.5(NOTCH1):c.7232CAC[7] (p.Pro2414_Pro2415dup)
|
rs762336270
|
|
|
NM_017617.5(NOTCH1):c.7235C>G (p.Pro2412Arg)
|
rs1842916921
|
|
|
NM_017617.5(NOTCH1):c.7261G>T (p.Val2421Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.7279G>C (p.Gly2427Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp)
|
rs886039031
|
|
|
NM_017617.5(NOTCH1):c.7327G>T (p.Val2443Leu)
|
rs768311067
|
|
|
NM_017617.5(NOTCH1):c.7402C>A (p.Leu2468Met)
|
rs2133315021
|
|
|
NM_017617.5(NOTCH1):c.7405C>T (p.Pro2469Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.7417del (p.Val2473fs)
|
rs2133314943
|
|
|
NM_017617.5(NOTCH1):c.7426G>A (p.Val2476Met)
|
rs763785541
|
|
|
NM_017617.5(NOTCH1):c.743-3C>A
|
rs778646322
|
|
|
NM_017617.5(NOTCH1):c.743-5G>A
|
|
|
|
NM_017617.5(NOTCH1):c.7463A>G (p.His2488Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.748A>T (p.Thr250Ser)
|
rs551150550
|
|
|
NM_017617.5(NOTCH1):c.7507C>T (p.Gln2503Ter)
|
|
|
|
NM_017617.5(NOTCH1):c.7510G>A (p.Val2504Met)
|
rs2133314443
|
|
|
NM_017617.5(NOTCH1):c.7529T>C (p.Leu2510Pro)
|
rs1554826340
|
|
|
NM_017617.5(NOTCH1):c.752G>T (p.Gly251Val)
|
rs749943647
|
|
|
NM_017617.5(NOTCH1):c.7532C>A (p.Thr2511Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.753C>T (p.Gly251=)
|
|
|
|
NM_017617.5(NOTCH1):c.7549C>T (p.Pro2517Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.760T>C (p.Cys254Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.7622C>T (p.Thr2541Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.7657G>A (p.Ala2553Thr)
|
rs182522714
|
|
|
NM_017617.5(NOTCH1):c.7658C>T (p.Ala2553Val)
|
rs2133313653
|
|
|
NM_017617.5(NOTCH1):c.769A>G (p.Asn257Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.781T>C (p.Cys261Arg)
|
rs2133372814
|
|
|
NM_017617.5(NOTCH1):c.788G>T (p.Gly263Val)
|
|
|
|
NM_017617.5(NOTCH1):c.804C>A (p.Asn268Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.824G>C (p.Gly275Ala)
|
|
|
|
NM_017617.5(NOTCH1):c.829A>G (p.Asn277Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.830A>G (p.Asn277Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.865+11G>A
|
|
|
|
NM_017617.5(NOTCH1):c.865+2C>T
|
rs1164392989
|
|
|
NM_017617.5(NOTCH1):c.865+4C>T
|
rs527248111
|
|
|
NM_017617.5(NOTCH1):c.866G>C (p.Gly289Ala)
|
|
|
|
NM_017617.5(NOTCH1):c.892G>C (p.Glu298Gln)
|
rs1060502232
|
|
|
NM_017617.5(NOTCH1):c.900G>C (p.Gln300His)
|
|
|
|
NM_017617.5(NOTCH1):c.902T>C (p.Leu301Pro)
|
|
|
|
NM_017617.5(NOTCH1):c.924C>G (p.Asn308Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.961T>C (p.Cys321Arg)
|
rs1843318767
|
|
|
NM_017617.5(NOTCH1):c.98A>G (p.Asn33Ser)
|
rs2133406228
|
|
|
NM_018062.4(FANCL):c.1021T>A (p.Trp341Arg)
|
rs1558727863
|
|
|
NM_018062.4(FANCL):c.1033CTA[1] (p.Leu346del)
|
|
|
|
NM_018062.4(FANCL):c.1042A>G (p.Ser348Gly)
|
|
|
|
NM_018062.4(FANCL):c.105C>A (p.Asp35Glu)
|
|
|
|
NM_018062.4(FANCL):c.1060A>G (p.Ile354Val)
|
|
|
|
NM_018062.4(FANCL):c.1078C>A (p.Pro360Thr)
|
rs748875030
|
|
|
NM_018062.4(FANCL):c.1078C>G (p.Pro360Ala)
|
rs748875030
|
|
|
NM_018062.4(FANCL):c.1093-13T>A
|
|
|
|
NM_018062.4(FANCL):c.1096A>G (p.Ile366Val)
|
|
|
|
NM_018062.4(FANCL):c.1109T>C (p.Met370Thr)
|
rs1684813547
|
|
|
NM_018062.4(FANCL):c.1118G>C (p.Arg373Thr)
|
|
|
|
NM_018062.4(FANCL):c.1123C>G (p.His375Asp)
|
|
|
|
NM_018062.4(FANCL):c.121G>A (p.Val41Met)
|
|
|
|
NM_018062.4(FANCL):c.134A>T (p.Asp45Val)
|
rs1573820532
|
|
|
NM_018062.4(FANCL):c.136T>A (p.Leu46Ile)
|
rs781357185
|
|
|
NM_018062.4(FANCL):c.136T>G (p.Leu46Val)
|
|
|
|
NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr)
|
rs1558825558
|
|
|
NM_018062.4(FANCL):c.155G>A (p.Arg52Lys)
|
rs1693636944
|
|
|
NM_018062.4(FANCL):c.156-3T>G
|
|
|
|
NM_018062.4(FANCL):c.159A>C (p.Leu53Phe)
|
|
|
|
NM_018062.4(FANCL):c.163T>A (p.Cys55Ser)
|
|
|
|
NM_018062.4(FANCL):c.167G>C (p.Ser56Thr)
|
rs778972805
|
|
|
NM_018062.4(FANCL):c.181A>G (p.Thr61Ala)
|
|
|
|
NM_018062.4(FANCL):c.191G>A (p.Ser64Asn)
|
rs1693400339
|
|
|
NM_018062.4(FANCL):c.200A>G (p.His67Arg)
|
|
|
|
NM_018062.4(FANCL):c.203G>A (p.Arg68Gln)
|
rs143819820
|
|
|
NM_018062.4(FANCL):c.20G>A (p.Ser7Asn)
|
rs376224867
|
|
|
NM_018062.4(FANCL):c.20G>C (p.Ser7Thr)
|
rs376224867
|
|
|
NM_018062.4(FANCL):c.20G>T (p.Ser7Ile)
|
rs376224867
|
|
|
NM_018062.4(FANCL):c.21C>G (p.Ser7Arg)
|
rs200559825
|
|
|
NM_018062.4(FANCL):c.224A>G (p.Gln75Arg)
|
rs754363760
|
|
|
NM_018062.4(FANCL):c.226C>T (p.His76Tyr)
|
rs1693047999
|
|
|
NM_018062.4(FANCL):c.229T>C (p.Ser77Pro)
|
|
|
|
NM_018062.4(FANCL):c.22C>A (p.Leu8Met)
|
rs764378405
|
|
|
NM_018062.4(FANCL):c.233C>G (p.Pro78Arg)
|
|
|
|
NM_018062.4(FANCL):c.241A>G (p.Met81Val)
|
rs1440897827
|
|
|
NM_018062.4(FANCL):c.244A>C (p.Ser82Arg)
|
|
|
|
NM_018062.4(FANCL):c.252G>A (p.Met84Ile)
|
|
|
|
NM_018062.4(FANCL):c.259T>A (p.Leu87Met)
|
|
|
|
NM_018062.4(FANCL):c.267G>T (p.Met89Ile)
|
rs1378650753
|
|
|
NM_018062.4(FANCL):c.274G>A (p.Glu92Lys)
|
rs2103754665
|
|
|
NM_018062.4(FANCL):c.27G>C (p.Leu9Phe)
|
rs370409722
|
|
|
NM_018062.4(FANCL):c.27G>T (p.Leu9Phe)
|
|
|
|
NM_018062.4(FANCL):c.280_281delinsTT (p.Ala94Phe)
|
|
|
|
NM_018062.4(FANCL):c.287A>G (p.Lys96Arg)
|
|
|
|
NM_018062.4(FANCL):c.295C>A (p.Gln99Lys)
|
rs1196510455
|
|
|
NM_018062.4(FANCL):c.308C>T (p.Ala103Val)
|
rs746623168
|
|
|
NM_018062.4(FANCL):c.319C>G (p.Pro107Ala)
|
rs754028115
|
|
|
NM_018062.4(FANCL):c.339C>A (p.Ser113Arg)
|
rs2103752897
|
|
|
NM_018062.4(FANCL):c.350A>C (p.Glu117Ala)
|
rs2103752683
|
|
|
NM_018062.4(FANCL):c.35G>A (p.Cys12Tyr)
|
rs2104082854
|
|
|
NM_018062.4(FANCL):c.35G>C (p.Cys12Ser)
|
|
|
|
NM_018062.4(FANCL):c.361C>T (p.Leu121Phe)
|
|
|
|
NM_018062.4(FANCL):c.365G>T (p.Gly122Val)
|
rs2103752402
|
|
|
NM_018062.4(FANCL):c.374+3A>G
|
rs999309828
|
|
|
NM_018062.4(FANCL):c.375-2033C>G
|
rs1690571577
|
|
|
NM_018062.4(FANCL):c.385G>T (p.Ala129Ser)
|
|
|
|
NM_018062.4(FANCL):c.388G>T (p.Asp130Tyr)
|
rs1690340999
|
|
|
NM_018062.4(FANCL):c.408C>G (p.Ile136Met)
|
rs1389670408
|
|
|
NM_018062.4(FANCL):c.428C>G (p.Ala143Gly)
|
rs756000370
|
|
|
NM_018062.4(FANCL):c.430T>A (p.Ser144Thr)
|
rs2105147558
|
|
|
NM_018062.4(FANCL):c.439G>A (p.Glu147Lys)
|
|
|
|
NM_018062.4(FANCL):c.44T>A (p.Leu15His)
|
rs1694519859
|
|
|
NM_018062.4(FANCL):c.454C>T (p.Leu152Phe)
|
|
|
|
NM_018062.4(FANCL):c.46C>A (p.Leu16Met)
|
|
|
|
NM_018062.4(FANCL):c.471+16A>G
|
rs1026741275
|
|
|
NM_018062.4(FANCL):c.472-6T>A
|
|
|
|
NM_018062.4(FANCL):c.476C>T (p.Pro159Leu)
|
|
|
|
NM_018062.4(FANCL):c.478G>A (p.Ala160Thr)
|
rs2105101201
|
|
|
NM_018062.4(FANCL):c.47T>G (p.Leu16Arg)
|
|
|
|
NM_018062.4(FANCL):c.494A>G (p.Tyr165Cys)
|
rs2105100994
|
|
|
NM_018062.4(FANCL):c.4G>A (p.Ala2Thr)
|
|
|
|
NM_018062.4(FANCL):c.524C>T (p.Ala175Val)
|
rs199966372
|
|
|
NM_018062.4(FANCL):c.526T>G (p.Ser176Ala)
|
|
|
|
NM_018062.4(FANCL):c.533C>A (p.Thr178Lys)
|
rs1689674094
|
|
|
NM_018062.4(FANCL):c.550A>G (p.Ile184Val)
|
rs2104818711
|
|
|
NM_018062.4(FANCL):c.556A>G (p.Ile186Val)
|
rs1685886480
|
|
|
NM_018062.4(FANCL):c.563G>C (p.Ser188Thr)
|
|
|
|
NM_018062.4(FANCL):c.578C>T (p.Ala193Val)
|
rs2104818267
|
|
|
NM_018062.4(FANCL):c.57C>G (p.Asn19Lys)
|
rs1694517921
|
|
|
NM_018062.4(FANCL):c.594G>C (p.Lys198Asn)
|
|
|
|
NM_018062.4(FANCL):c.608T>C (p.Val203Ala)
|
rs1453411120
|
|
|
NM_018062.4(FANCL):c.608T>G (p.Val203Gly)
|
rs1453411120
|
|
|
NM_018062.4(FANCL):c.612G>A (p.Met204Ile)
|
|
|
|
NM_018062.4(FANCL):c.614A>C (p.Asp205Ala)
|
|
|
|
NM_018062.4(FANCL):c.614A>G (p.Asp205Gly)
|
|
|
|
NM_018062.4(FANCL):c.625_627del (p.Glu209del)
|
rs1348381378
|
|
|
NM_018062.4(FANCL):c.626A>G (p.Glu209Gly)
|
|
|
|
NM_018062.4(FANCL):c.62C>G (p.Ser21Trp)
|
|
|
|
NM_018062.4(FANCL):c.650A>G (p.Glu217Gly)
|
rs1360050423
|
|
|
NM_018062.4(FANCL):c.659C>T (p.Pro220Leu)
|
|
|
|
NM_018062.4(FANCL):c.662G>T (p.Arg221Leu)
|
rs761742545
|
|
|
NM_018062.4(FANCL):c.671C>A (p.Thr224Lys)
|
rs779439089
|
|
|
NM_018062.4(FANCL):c.676C>T (p.Arg226Cys)
|
|
|
|
NM_018062.4(FANCL):c.677G>T (p.Arg226Leu)
|
|
|
|
NM_018062.4(FANCL):c.680G>C (p.Arg227Thr)
|
|
|
|
NM_018062.4(FANCL):c.68C>T (p.Thr23Ile)
|
|
|
|
NM_018062.4(FANCL):c.703T>C (p.Ser235Pro)
|
rs1383696633
|
|
|
NM_018062.4(FANCL):c.719T>C (p.Val240Ala)
|
rs1195674676
|
|
|
NM_018062.4(FANCL):c.736A>G (p.Thr246Ala)
|
|
|
|
NM_018062.4(FANCL):c.737C>T (p.Thr246Ile)
|
rs2104800049
|
|
|
NM_018062.4(FANCL):c.750G>C (p.Glu250Asp)
|
|
|
|
NM_018062.4(FANCL):c.754T>C (p.Phe252Leu)
|
rs780414432
|
|
|
NM_018062.4(FANCL):c.760C>T (p.Leu254Phe)
|
rs1331385236
|
|
|
NM_018062.4(FANCL):c.763G>A (p.Gly255Arg)
|
rs2104799685
|
|
|
NM_018062.4(FANCL):c.767C>G (p.Ala256Gly)
|
rs781438290
|
|
|
NM_018062.4(FANCL):c.76G>C (p.Glu26Gln)
|
rs1694515857
|
|
|
NM_018062.4(FANCL):c.775+10C>G
|
rs751857451
|
|
|
NM_018062.4(FANCL):c.775+3A>G
|
rs975755966
|
|
|
NM_018062.4(FANCL):c.775+6A>G
|
|
|
|
NM_018062.4(FANCL):c.776-13_776-10del
|
rs374236117
|
|
|
NM_018062.4(FANCL):c.776-6C>G
|
rs1359670933
|
|
|
NM_018062.4(FANCL):c.801G>A (p.Leu267=)
|
|
|
|
NM_018062.4(FANCL):c.803G>A (p.Ser268Asn)
|
|
|
|
NM_018062.4(FANCL):c.805A>C (p.Arg269=)
|
|
|
|
NM_018062.4(FANCL):c.80G>T (p.Gly27Val)
|
|
|
|
NM_018062.4(FANCL):c.814C>G (p.His272Asp)
|
rs1047208127
|
|
|
NM_018062.4(FANCL):c.842T>C (p.Leu281Ser)
|
rs935920468
|
|
|
NM_018062.4(FANCL):c.845A>G (p.Gln282Arg)
|
rs2104794990
|
|
|
NM_018062.4(FANCL):c.862T>A (p.Leu288Ile)
|
|
|
|
NM_018062.4(FANCL):c.863T>C (p.Leu288Ser)
|
rs1573513610
|
|
|
NM_018062.4(FANCL):c.869T>C (p.Ile290Thr)
|
|
|
|
NM_018062.4(FANCL):c.89C>G (p.Ser30Trp)
|
rs763615183
|
|
|
NM_018062.4(FANCL):c.902C>A (p.Ser301Tyr)
|
|
|
|
NM_018062.4(FANCL):c.902C>G (p.Ser301Cys)
|
rs1405173705
|
|
|
NM_018062.4(FANCL):c.903+6T>A
|
|
|
|
NM_018062.4(FANCL):c.904-9_904-7del
|
rs757041554
|
|
|
NM_018062.4(FANCL):c.904-9del
|
rs779011743
|
|
|
NM_018062.4(FANCL):c.908T>G (p.Phe303Cys)
|
|
|
|
NM_018062.4(FANCL):c.911C>T (p.Thr304Ile)
|
rs746454771
|
|
|
NM_018062.4(FANCL):c.913A>G (p.Met305Val)
|
rs553742734
|
|
|
NM_018062.4(FANCL):c.913A>T (p.Met305Leu)
|
rs553742734
|
|
|
NM_018062.4(FANCL):c.914T>C (p.Met305Thr)
|
|
|
|
NM_018062.4(FANCL):c.923G>A (p.Gly308Glu)
|
rs2104783676
|
|
|
NM_018062.4(FANCL):c.934G>T (p.Ala312Ser)
|
rs2104783559
|
|
|
NM_018062.4(FANCL):c.942A>G (p.Gln314=)
|
rs1163349462
|
|
|
NM_018062.4(FANCL):c.949G>A (p.Gly317Ser)
|
rs1060501896
|
|
|
NM_018062.4(FANCL):c.953C>T (p.Thr318Ile)
|
|
|
|
NM_018062.4(FANCL):c.955A>C (p.Ile319Leu)
|
|
|
|
NM_018062.4(FANCL):c.96+4C>A
|
rs1279339819
|
|
|
NM_018062.4(FANCL):c.96+6C>T
|
rs544743506
|
|
|
NM_018062.4(FANCL):c.965A>G (p.Gln322Arg)
|
|
|
|
NM_018062.4(FANCL):c.967G>A (p.Val323Met)
|
rs763057392
|
|
|
NM_018062.4(FANCL):c.967G>T (p.Val323Leu)
|
rs763057392
|
|
|
NM_018062.4(FANCL):c.971G>C (p.Cys324Ser)
|
rs1685176362
|
|
|
NM_018062.4(FANCL):c.974A>T (p.Asp325Val)
|
|
|
|
NM_018062.4(FANCL):c.984G>T (p.Gln328His)
|
|
|
|
NM_018486.3(HDAC8):c.1005+5G>A
|
|
|
|
NM_018486.3(HDAC8):c.104C>T (p.Pro35Leu)
|
rs782296225
|
|
|
NM_018486.3(HDAC8):c.1085T>C (p.Ile362Thr)
|
|
|
|
NM_018486.3(HDAC8):c.111+6G>A
|
|
|
|
NM_018486.3(HDAC8):c.1111G>A (p.Gly371Arg)
|
|
|
|
NM_018486.3(HDAC8):c.1112-2A>G
|
rs1131690790
|
|
|
NM_018486.3(HDAC8):c.1117C>A (p.Leu373Met)
|
|
|
|
NM_018486.3(HDAC8):c.111G>C (p.Arg37=)
|
|
|
|
NM_018486.3(HDAC8):c.1126G>A (p.Val376Met)
|
|
|
|
NM_018486.3(HDAC8):c.164+4del
|
rs2147614572
|
|
|
NM_018486.3(HDAC8):c.23C>A (p.Ala8Glu)
|
|
|
|
NM_018486.3(HDAC8):c.291G>A (p.Gly97=)
|
|
|
|
NM_018486.3(HDAC8):c.29G>A (p.Ser10Asn)
|
rs2147618964
|
|
|
NM_018486.3(HDAC8):c.310G>A (p.Ala104Thr)
|
|
|
|
NM_018486.3(HDAC8):c.31G>C (p.Gly11Arg)
|
|
|
|
NM_018486.3(HDAC8):c.349G>A (p.Gly117Arg)
|
|
|
|
NM_018486.3(HDAC8):c.383A>T (p.Asp128Val)
|
|
|
|
NM_018486.3(HDAC8):c.43G>A (p.Val15Ile)
|
|
|
|
NM_018486.3(HDAC8):c.440A>T (p.Asp147Val)
|
|
|
|
NM_018486.3(HDAC8):c.500G>A (p.Arg167Gln)
|
|
|
|
NM_018486.3(HDAC8):c.502A>G (p.Lys168Glu)
|
rs2148144312
|
|
|
NM_018486.3(HDAC8):c.587T>C (p.Met196Thr)
|
|
|
|
NM_018486.3(HDAC8):c.590C>A (p.Thr197Asn)
|
|
|
|
NM_018486.3(HDAC8):c.640G>A (p.Val214Met)
|
|
|
|
NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp)
|
rs1556007534
|
|
|
NM_018486.3(HDAC8):c.683A>T (p.Asn228Ile)
|
rs2148124551
|
|
|
NM_018486.3(HDAC8):c.68A>C (p.Glu23Ala)
|
rs2147618656
|
|
|
NM_018486.3(HDAC8):c.717A>T (p.Lys239Asn)
|
|
|
|
NM_018486.3(HDAC8):c.731G>A (p.Cys244Tyr)
|
|
|
|
NM_018486.3(HDAC8):c.737+3A>G
|
|
|
|
NM_018486.3(HDAC8):c.737+6G>A
|
|
|
|
NM_018486.3(HDAC8):c.822G>A (p.Met274Ile)
|
|
|
|
NM_018486.3(HDAC8):c.831T>A (p.Phe277Leu)
|
|
|
|
NM_018486.3(HDAC8):c.889G>C (p.Ala297Pro)
|
|
|
|
NM_018486.3(HDAC8):c.898A>C (p.Ile300Leu)
|
|
|
|
NM_018486.3(HDAC8):c.914G>A (p.Gly305Asp)
|
rs2148039310
|
|
|
NM_018486.3(HDAC8):c.925G>T (p.Ala309Ser)
|
|
|
|
NM_018486.3(HDAC8):c.976A>G (p.Thr326Ala)
|
|
|
|
NM_020436.5(SALL4):c.1003C>T (p.Leu335Phe)
|
|
|
|
NM_020436.5(SALL4):c.1079A>C (p.Lys360Thr)
|
|
|
|
NM_020436.5(SALL4):c.1130C>A (p.Ala377Glu)
|
|
|
|
NM_020436.5(SALL4):c.1204C>T (p.Arg402Cys)
|
|
|
|
NM_020436.5(SALL4):c.122G>A (p.Gly41Glu)
|
|
|
|
NM_020436.5(SALL4):c.1277A>G (p.Lys426Arg)
|
|
|
|
NM_020436.5(SALL4):c.1309G>C (p.Ala437Pro)
|
|
|
|
NM_020436.5(SALL4):c.1330G>A (p.Glu444Lys)
|
|
|
|
NM_020436.5(SALL4):c.1358A>T (p.Asn453Ile)
|
|
|
|
NM_020436.5(SALL4):c.1472C>T (p.Ser491Leu)
|
|
|
|
NM_020436.5(SALL4):c.1633G>T (p.Gly545Trp)
|
|
|
|
NM_020436.5(SALL4):c.1679_1687del (p.Lys560_Thr562del)
|
|
|
|
NM_020436.5(SALL4):c.1718G>A (p.Arg573Gln)
|
|
|
|
NM_020436.5(SALL4):c.1756C>T (p.Arg586Cys)
|
|
|
|
NM_020436.5(SALL4):c.1802G>C (p.Arg601Pro)
|
rs1415936268
|
|
|
NM_020436.5(SALL4):c.2049C>G (p.Cys683Trp)
|
|
|
|
NM_020436.5(SALL4):c.2065G>A (p.Glu689Lys)
|
|
|
|
NM_020436.5(SALL4):c.2074G>A (p.Asp692Asn)
|
|
|
|
NM_020436.5(SALL4):c.2081A>C (p.Glu694Ala)
|
|
|
|
NM_020436.5(SALL4):c.2114C>G (p.Ser705Cys)
|
|
|
|
NM_020436.5(SALL4):c.2233C>T (p.Arg745Cys)
|
|
|
|
NM_020436.5(SALL4):c.2234G>A (p.Arg745His)
|
|
|
|
NM_020436.5(SALL4):c.2257T>G (p.Ser753Ala)
|
|
|
|
NM_020436.5(SALL4):c.2370G>A (p.Pro790=)
|
rs570760124
|
|
|
NM_020436.5(SALL4):c.2410G>A (p.Asp804Asn)
|
rs147768774
|
|
|
NM_020436.5(SALL4):c.2501C>T (p.Pro834Leu)
|
|
|
|
NM_020436.5(SALL4):c.250A>G (p.Ile84Val)
|
rs1601172072
|
|
|
NM_020436.5(SALL4):c.2590C>T (p.Arg864Cys)
|
rs756470912
|
|
|
NM_020436.5(SALL4):c.2668C>T (p.Arg890Trp)
|
rs2078012508
|
|
|
NM_020436.5(SALL4):c.2704A>G (p.Ile902Val)
|
rs2122959420
|
|
|
NM_020436.5(SALL4):c.2743-3T>C
|
|
|
|
NM_020436.5(SALL4):c.2765C>T (p.Ala922Val)
|
|
|
|
NM_020436.5(SALL4):c.2782C>T (p.Arg928Cys)
|
|
|
|
NM_020436.5(SALL4):c.2816T>G (p.Met939Arg)
|
rs770912668
|
|
|
NM_020436.5(SALL4):c.2944G>A (p.Val982Met)
|
|
|
|
NM_020436.5(SALL4):c.2977G>C (p.Gly993Arg)
|
rs138891224
|
|
|
NM_020436.5(SALL4):c.2980G>A (p.Gly994Arg)
|
|
|
|
NM_020436.5(SALL4):c.2984T>G (p.Val995Gly)
|
rs1601162110
|
|
|
NM_020436.5(SALL4):c.3002C>T (p.Ser1001Phe)
|
|
|
|
NM_020436.5(SALL4):c.3031G>A (p.Ala1011Thr)
|
|
|
|
NM_020436.5(SALL4):c.3152C>T (p.Ala1051Val)
|
|
|
|
NM_020436.5(SALL4):c.31C>T (p.His11Tyr)
|
|
|
|
NM_020436.5(SALL4):c.412G>A (p.Gly138Ser)
|
|
|
|
NM_020436.5(SALL4):c.42GGA[4] (p.Glu16_Asp17insGlu)
|
|
|
|
NM_020436.5(SALL4):c.485C>T (p.Pro162Leu)
|
|
|
|
NM_020436.5(SALL4):c.526G>A (p.Val176Met)
|
|
|
|
NM_020436.5(SALL4):c.540_541inv (p.Val181Met)
|
|
|
|
NM_020436.5(SALL4):c.575C>A (p.Ala192Glu)
|
|
|
|
NM_020436.5(SALL4):c.593C>T (p.Ala198Val)
|
|
|
|
NM_020436.5(SALL4):c.596A>G (p.Asp199Gly)
|
|
|
|
NM_020436.5(SALL4):c.599C>T (p.Ala200Val)
|
|
|
|
NM_020436.5(SALL4):c.646G>A (p.Glu216Lys)
|
|
|
|
NM_020436.5(SALL4):c.770T>G (p.Leu257Arg)
|
|
|
|
NM_020436.5(SALL4):c.776C>T (p.Thr259Ile)
|
|
|
|
NM_020436.5(SALL4):c.853T>C (p.Ser285Pro)
|
|
|
|
NM_020436.5(SALL4):c.889G>A (p.Ala297Thr)
|
|
|
|
NM_020436.5(SALL4):c.986G>A (p.Arg329His)
|
|
|
|
NM_020937.4(FANCM):c.1000A>C (p.Ile334Leu)
|
|
|
|
NM_020937.4(FANCM):c.1010C>T (p.Ala337Val)
|
|
|
|
NM_020937.4(FANCM):c.1022T>G (p.Phe341Cys)
|
rs756238597
|
|
|
NM_020937.4(FANCM):c.1028A>G (p.Lys343Arg)
|
|
|
|
NM_020937.4(FANCM):c.1037C>A (p.Ser346Tyr)
|
rs2139160555
|
|
|
NM_020937.4(FANCM):c.1056A>G (p.Ile352Met)
|
rs1376949981
|
|
|
NM_020937.4(FANCM):c.1071C>G (p.Ile357Met)
|
rs780333012
|
|
|
NM_020937.4(FANCM):c.1087A>G (p.Ile363Val)
|
|
|
|
NM_020937.4(FANCM):c.108C>T (p.Gly36=)
|
rs760179836
|
|
|
NM_020937.4(FANCM):c.1097G>A (p.Ser366Asn)
|
|
|
|
NM_020937.4(FANCM):c.1100T>C (p.Leu367Ser)
|
rs769814213
|
|
|
NM_020937.4(FANCM):c.1111T>C (p.Tyr371His)
|
|
|
|
NM_020937.4(FANCM):c.1115A>C (p.Glu372Ala)
|
|
|
|
NM_020937.4(FANCM):c.1127A>G (p.Gln376Arg)
|
rs1284198432
|
|
|
NM_020937.4(FANCM):c.1129A>G (p.Met377Val)
|
|
|
|
NM_020937.4(FANCM):c.1132G>C (p.Gly378Arg)
|
|
|
|
NM_020937.4(FANCM):c.1133G>A (p.Gly378Glu)
|
rs1060501894
|
|
|
NM_020937.4(FANCM):c.1155C>T (p.Phe385=)
|
|
|
|
NM_020937.4(FANCM):c.1163G>T (p.Gly388Val)
|
rs2139169070
|
|
|
NM_020937.4(FANCM):c.1186A>C (p.Met396Leu)
|
rs768041388
|
|
|
NM_020937.4(FANCM):c.1189A>G (p.Thr397Ala)
|
|
|
|
NM_020937.4(FANCM):c.1208T>C (p.Leu403Pro)
|
rs1887059226
|
|
|
NM_020937.4(FANCM):c.1214G>A (p.Arg405Gln)
|
|
|
|
NM_020937.4(FANCM):c.121C>A (p.Pro41Thr)
|
|
|
|
NM_020937.4(FANCM):c.1223A>G (p.Asp408Gly)
|
rs1887060432
|
|
|
NM_020937.4(FANCM):c.1224C>G (p.Asp408Glu)
|
rs1887060648
|
|
|
NM_020937.4(FANCM):c.1235T>C (p.Leu412Pro)
|
|
|
|
NM_020937.4(FANCM):c.124T>A (p.Leu42Met)
|
rs947215531
|
|
|
NM_020937.4(FANCM):c.1253G>A (p.Cys418Tyr)
|
rs527417380
|
|
|
NM_020937.4(FANCM):c.1253G>C (p.Cys418Ser)
|
rs527417380
|
|
|
NM_020937.4(FANCM):c.1260T>A (p.Phe420Leu)
|
|
|
|
NM_020937.4(FANCM):c.1260T>G (p.Phe420Leu)
|
|
|
|
NM_020937.4(FANCM):c.1265G>A (p.Arg422His)
|
rs570510177
|
|
|
NM_020937.4(FANCM):c.1268C>T (p.Thr423Ile)
|
|
|
|
NM_020937.4(FANCM):c.1270C>G (p.Arg424Gly)
|
|
|
|
NM_020937.4(FANCM):c.1282G>C (p.Ala428Pro)
|
rs1177585747
|
|
|
NM_020937.4(FANCM):c.1283C>T (p.Ala428Val)
|
|
|
|
NM_020937.4(FANCM):c.1285A>T (p.Asn429Tyr)
|
|
|
|
NM_020937.4(FANCM):c.1295C>T (p.Ser432Phe)
|
rs149379175
|
|
|
NM_020937.4(FANCM):c.1309+3C>G
|
|
|
|
NM_020937.4(FANCM):c.1309+6del
|
|
|
|
NM_020937.4(FANCM):c.1310-13T>A
|
rs749995672
|
|
|
NM_020937.4(FANCM):c.1310G>C (p.Gly437Ala)
|
rs1290183944
|
|
|
NM_020937.4(FANCM):c.1314TAAAAA[1] (p.Asn440_Lys441del)
|
rs771036341
|
|
|
NM_020937.4(FANCM):c.1315A>G (p.Lys439Glu)
|
rs2139173788
|
|
|
NM_020937.4(FANCM):c.1316A>C (p.Lys439Thr)
|
rs1594773798
|
|
|
NM_020937.4(FANCM):c.1317A>C (p.Lys439Asn)
|
rs2139173806
|
|
|
NM_020937.4(FANCM):c.1327T>A (p.Phe443Ile)
|
|
|
|
NM_020937.4(FANCM):c.1358T>C (p.Leu453Ser)
|
|
|
|
NM_020937.4(FANCM):c.1361AAG[1] (p.Glu455del)
|
rs1566739002
|
|
|
NM_020937.4(FANCM):c.1364A>C (p.Glu455Ala)
|
rs889654019
|
|
|
NM_020937.4(FANCM):c.136G>A (p.Ala46Thr)
|
|
|
|
NM_020937.4(FANCM):c.1391G>T (p.Trp464Leu)
|
rs1566739075
|
|
|
NM_020937.4(FANCM):c.1395T>C (p.Asn465=)
|
rs1594773895
|
|
|
NM_020937.4(FANCM):c.1395T>G (p.Asn465Lys)
|
rs1594773895
|
|
|
NM_020937.4(FANCM):c.1396+5G>A
|
rs1887116899
|
|
|
NM_020937.4(FANCM):c.1396+6T>A
|
rs1887117102
|
|
|
NM_020937.4(FANCM):c.1396G>A (p.Ala466Thr)
|
|
|
|
NM_020937.4(FANCM):c.1421G>A (p.Arg474His)
|
|
|
|
NM_020937.4(FANCM):c.1423G>A (p.Asp475Asn)
|
rs1060501892
|
|
|
NM_020937.4(FANCM):c.1423G>T (p.Asp475Tyr)
|
rs1060501892
|
|
|
NM_020937.4(FANCM):c.1428G>T (p.Glu476Asp)
|
|
|
|
NM_020937.4(FANCM):c.1430C>T (p.Thr477Ile)
|
|
|
|
NM_020937.4(FANCM):c.1439T>A (p.Met480Lys)
|
rs776804525
|
|
|
NM_020937.4(FANCM):c.1442TCT[1] (p.Phe482del)
|
rs1163631547
|
|
|
NM_020937.4(FANCM):c.1447T>G (p.Ser483Ala)
|
|
|
|
NM_020937.4(FANCM):c.1450T>G (p.Ser484Ala)
|
rs1887398867
|
|
|
NM_020937.4(FANCM):c.1457G>A (p.Arg486Gln)
|
|
|
|
NM_020937.4(FANCM):c.1463G>A (p.Ser488Asn)
|
rs1566742540
|
|
|
NM_020937.4(FANCM):c.1466T>C (p.Val489Ala)
|
rs1887401440
|
|
|
NM_020937.4(FANCM):c.1472A>G (p.Glu491Gly)
|
rs2139186360
|
|
|
NM_020937.4(FANCM):c.14A>G (p.Gln5Arg)
|
|
|
|
NM_020937.4(FANCM):c.1501C>G (p.Pro501Ala)
|
rs1887404285
|
|
|
NM_020937.4(FANCM):c.1511G>C (p.Arg504Thr)
|
rs1023546372
|
|
|
NM_020937.4(FANCM):c.1518G>A (p.Met506Ile)
|
rs1236513030
|
|
|
NM_020937.4(FANCM):c.1528G>T (p.Gly510Cys)
|
rs146291619
|
|
|
NM_020937.4(FANCM):c.1533T>A (p.His511Gln)
|
rs1887408716
|
|
|
NM_020937.4(FANCM):c.1540G>C (p.Gly514Arg)
|
|
|
|
NM_020937.4(FANCM):c.1565A>C (p.Gln522Pro)
|
rs371569048
|
|
|
NM_020937.4(FANCM):c.1577T>A (p.Leu526Gln)
|
rs766715021
|
|
|
NM_020937.4(FANCM):c.1577T>C (p.Leu526Pro)
|
rs766715021
|
|
|
NM_020937.4(FANCM):c.157G>A (p.Asp53Asn)
|
|
|
|
NM_020937.4(FANCM):c.1582-16A>G
|
|
|
|
NM_020937.4(FANCM):c.1603G>A (p.Gly535Ser)
|
rs757592514
|
|
|
NM_020937.4(FANCM):c.1607G>T (p.Gly536Val)
|
|
|
|
NM_020937.4(FANCM):c.160G>C (p.Asp54His)
|
|
|
|
NM_020937.4(FANCM):c.161ATG[1] (p.Asp55del)
|
rs1566716075
|
|
|
NM_020937.4(FANCM):c.1628C>T (p.Thr543Ile)
|
rs1887816758
|
|
|
NM_020937.4(FANCM):c.1646G>A (p.Gly549Asp)
|
|
|
|
NM_020937.4(FANCM):c.164A>T (p.Asp55Val)
|
rs1255434449
|
|
|
NM_020937.4(FANCM):c.1658_1660del (p.Gly553del)
|
rs866897480
|
|
|
NM_020937.4(FANCM):c.1675A>G (p.Ile559Val)
|
|
|
|
NM_020937.4(FANCM):c.1678T>C (p.Cys560Arg)
|
rs2139204843
|
|
|
NM_020937.4(FANCM):c.1688C>T (p.Ser563Phe)
|
rs1313731290
|
|
|
NM_020937.4(FANCM):c.1690C>A (p.Gln564Lys)
|
|
|
|
NM_020937.4(FANCM):c.1705C>A (p.Arg569Ser)
|
rs1388696715
|
|
|
NM_020937.4(FANCM):c.1705C>T (p.Arg569Cys)
|
rs1388696715
|
|
|
NM_020937.4(FANCM):c.1709T>C (p.Leu570Pro)
|
rs757831397
|
|
|
NM_020937.4(FANCM):c.1711G>A (p.Val571Ile)
|
rs1887826018
|
|
|
NM_020937.4(FANCM):c.1718G>A (p.Arg573Gln)
|
|
|
|
NM_020937.4(FANCM):c.172C>T (p.Leu58Phe)
|
rs1555358404
|
|
|
NM_020937.4(FANCM):c.1738A>C (p.Lys580Gln)
|
rs1887827994
|
|
|
NM_020937.4(FANCM):c.1747G>A (p.Gly583Ser)
|
|
|
|
NM_020937.4(FANCM):c.1763T>G (p.Ile588Ser)
|
|
|
|
NM_020937.4(FANCM):c.1771G>A (p.Glu591Lys)
|
|
|
|
NM_020937.4(FANCM):c.1778G>A (p.Arg593Gln)
|
rs1887831277
|
|
|
NM_020937.4(FANCM):c.1783G>A (p.Glu595Lys)
|
rs568513434
|
|
|
NM_020937.4(FANCM):c.1786C>A (p.Arg596Ser)
|
rs765671208
|
|
|
NM_020937.4(FANCM):c.1787G>A (p.Arg596His)
|
rs1325033142
|
|
|
NM_020937.4(FANCM):c.1788+6T>G
|
rs2139205570
|
|
|
NM_020937.4(FANCM):c.1795A>T (p.Asn599Tyr)
|
|
|
|
NM_020937.4(FANCM):c.179C>T (p.Ala60Val)
|
rs200717151
|
|
|
NM_020937.4(FANCM):c.17G>T (p.Arg6Ile)
|
rs1464500995
|
|
|
NM_020937.4(FANCM):c.1808C>A (p.Ser603Tyr)
|
rs1888020761
|
|
|
NM_020937.4(FANCM):c.1810A>G (p.Asn604Asp)
|
|
|
|
NM_020937.4(FANCM):c.1814A>G (p.Lys605Arg)
|
|
|
|
NM_020937.4(FANCM):c.1826A>G (p.Tyr609Cys)
|
|
|
|
NM_020937.4(FANCM):c.182C>G (p.Ala61Gly)
|
|
|
|
NM_020937.4(FANCM):c.1841G>C (p.Ser614Thr)
|
rs1888024744
|
|
|
NM_020937.4(FANCM):c.1847G>C (p.Arg616Thr)
|
rs2139214385
|
|
|
NM_020937.4(FANCM):c.1862T>A (p.Phe621Tyr)
|
rs2139214525
|
|
|
NM_020937.4(FANCM):c.1871G>A (p.Arg624Lys)
|
|
|
|
NM_020937.4(FANCM):c.1876C>T (p.Pro626Ser)
|
rs1462865463
|
|
|
NM_020937.4(FANCM):c.1880G>A (p.Arg627Gln)
|
rs777379515
|
|
|
NM_020937.4(FANCM):c.1882A>C (p.Met628Leu)
|
rs1888029552
|
|
|
NM_020937.4(FANCM):c.1892A>T (p.Asp631Val)
|
|
|
|
NM_020937.4(FANCM):c.189G>T (p.Glu63Asp)
|
rs1885484309
|
|
|
NM_020937.4(FANCM):c.1913A>G (p.His638Arg)
|
rs2139214853
|
|
|
NM_020937.4(FANCM):c.1914C>G (p.His638Gln)
|
|
|
|
NM_020937.4(FANCM):c.1916A>G (p.Lys639Arg)
|
rs2139214881
|
|
|
NM_020937.4(FANCM):c.1922T>A (p.Phe641Tyr)
|
rs2139214923
|
|
|
NM_020937.4(FANCM):c.1924A>G (p.Ile642Val)
|
rs1555363268
|
|
|
NM_020937.4(FANCM):c.1931A>G (p.His644Arg)
|
|
|
|
NM_020937.4(FANCM):c.1933G>A (p.Gly645Ser)
|
|
|
|
NM_020937.4(FANCM):c.1933G>C (p.Gly645Arg)
|
|
|
|
NM_020937.4(FANCM):c.1934G>A (p.Gly645Asp)
|
|
|
|
NM_020937.4(FANCM):c.1942G>A (p.Glu648Lys)
|
rs2139215069
|
|
|
NM_020937.4(FANCM):c.1951A>C (p.Lys651Gln)
|
rs774816428
|
|
|
NM_020937.4(FANCM):c.1954C>G (p.Pro652Ala)
|
rs945079138
|
|
|
NM_020937.4(FANCM):c.1958C>G (p.Ser653Cys)
|
rs1888036983
|
|
|
NM_020937.4(FANCM):c.1976A>T (p.Lys659Met)
|
rs1888039727
|
|
|
NM_020937.4(FANCM):c.1981T>G (p.Ser661Ala)
|
|
|
|
NM_020937.4(FANCM):c.1982C>T (p.Ser661Phe)
|
|
|
|
NM_020937.4(FANCM):c.1984A>G (p.Ile662Val)
|
rs1175276940
|
|
|
NM_020937.4(FANCM):c.1A>G (p.Met1Val)
|
rs752141076
|
|
|
NM_020937.4(FANCM):c.2003-5T>G
|
rs2139226103
|
|
|
NM_020937.4(FANCM):c.2012A>G (p.Gln671Arg)
|
rs1888274919
|
|
|
NM_020937.4(FANCM):c.2024A>G (p.Lys675Arg)
|
rs1888275563
|
|
|
NM_020937.4(FANCM):c.2029G>A (p.Asp677Asn)
|
rs1888276122
|
|
|
NM_020937.4(FANCM):c.2040A>T (p.Leu680Phe)
|
|
|
|
NM_020937.4(FANCM):c.2041T>C (p.Ser681Pro)
|
|
|
|
NM_020937.4(FANCM):c.2046A>T (p.Glu682Asp)
|
|
|
|
NM_020937.4(FANCM):c.2049A>T (p.Glu683Asp)
|
rs1888277477
|
|
|
NM_020937.4(FANCM):c.2053T>C (p.Phe685Leu)
|
|
|
|
NM_020937.4(FANCM):c.2053T>G (p.Phe685Val)
|
rs772645088
|
|
|
NM_020937.4(FANCM):c.2058A>C (p.Lys686Asn)
|
rs1888278178
|
|
|
NM_020937.4(FANCM):c.2062T>C (p.Trp688Arg)
|
rs1888278549
|
|
|
NM_020937.4(FANCM):c.2063G>C (p.Trp688Ser)
|
rs2139226471
|
|
|
NM_020937.4(FANCM):c.2064G>C (p.Trp688Cys)
|
|
|
|
NM_020937.4(FANCM):c.2078G>A (p.Arg693Lys)
|
|
|
|
NM_020937.4(FANCM):c.2089A>G (p.Ser697Gly)
|
|
|
|
NM_020937.4(FANCM):c.2104_2105delinsAG (p.Glu702Arg)
|
|
|
|
NM_020937.4(FANCM):c.2107A>T (p.Ile703Leu)
|
|
|
|
NM_020937.4(FANCM):c.2108T>G (p.Ile703Arg)
|
rs1594792069
|
|
|
NM_020937.4(FANCM):c.2110A>G (p.Thr704Ala)
|
rs1888283068
|
|
|
NM_020937.4(FANCM):c.2122G>A (p.Val708Ile)
|
rs1888284033
|
|
|
NM_020937.4(FANCM):c.2135_2140dup (p.Leu713_Gln714insProLeu)
|
|
|
|
NM_020937.4(FANCM):c.2138T>C (p.Leu713Ser)
|
|
|
|
NM_020937.4(FANCM):c.2140C>G (p.Gln714Glu)
|
|
|
|
NM_020937.4(FANCM):c.214A>G (p.Asn72Asp)
|
|
|
|
NM_020937.4(FANCM):c.2161-5T>C
|
rs2139234390
|
|
|
NM_020937.4(FANCM):c.2162C>G (p.Ala721Gly)
|
rs1479368252
|
|
|
NM_020937.4(FANCM):c.2162C>T (p.Ala721Val)
|
|
|
|
NM_020937.4(FANCM):c.2164C>G (p.Gln722Glu)
|
|
|
|
NM_020937.4(FANCM):c.2167G>A (p.Glu723Lys)
|
|
|
|
NM_020937.4(FANCM):c.2185C>T (p.His729Tyr)
|
|
|
|
NM_020937.4(FANCM):c.2190A>T (p.Gln730His)
|
rs117392855
|
|
|
NM_020937.4(FANCM):c.2191C>T (p.Leu731Phe)
|
|
|
|
NM_020937.4(FANCM):c.2203G>C (p.Glu735Gln)
|
|
|
|
NM_020937.4(FANCM):c.2205A>T (p.Glu735Asp)
|
rs759456936
|
|
|
NM_020937.4(FANCM):c.2208G>C (p.Trp736Cys)
|
rs2139234709
|
|
|
NM_020937.4(FANCM):c.221G>C (p.Gly74Ala)
|
rs1348903394
|
|
|
NM_020937.4(FANCM):c.2225A>G (p.His742Arg)
|
|
|
|
NM_020937.4(FANCM):c.2234C>G (p.Pro745Arg)
|
rs371756587
|
|
|
NM_020937.4(FANCM):c.2237C>T (p.Thr746Ile)
|
rs773541028
|
|
|
NM_020937.4(FANCM):c.2253C>A (p.His751Gln)
|
|
|
|
NM_020937.4(FANCM):c.2257G>T (p.Asp753Tyr)
|
rs1888448129
|
|
|
NM_020937.4(FANCM):c.2258A>G (p.Asp753Gly)
|
rs756438082
|
|
|
NM_020937.4(FANCM):c.2261G>C (p.Arg754Pro)
|
|
|
|
NM_020937.4(FANCM):c.2263T>C (p.Cys755Arg)
|
|
|
|
NM_020937.4(FANCM):c.2266C>A (p.Arg756Ser)
|
|
|
|
NM_020937.4(FANCM):c.2267G>T (p.Arg756Leu)
|
rs142763060
|
|
|
NM_020937.4(FANCM):c.226T>C (p.Cys76Arg)
|
|
|
|
NM_020937.4(FANCM):c.2284A>G (p.Met762Val)
|
rs746984040
|
|
|
NM_020937.4(FANCM):c.2285T>C (p.Met762Thr)
|
rs1359486439
|
|
|
NM_020937.4(FANCM):c.2285T>G (p.Met762Arg)
|
|
|
|
NM_020937.4(FANCM):c.2302A>G (p.Met768Val)
|
rs1594795205
|
|
|
NM_020937.4(FANCM):c.2304G>A (p.Met768Ile)
|
|
|
|
NM_020937.4(FANCM):c.2305A>G (p.Arg769Gly)
|
rs2139235357
|
|
|
NM_020937.4(FANCM):c.2310C>G (p.His770Gln)
|
rs566935444
|
|
|
NM_020937.4(FANCM):c.2316+11_2316+13del
|
rs2139235450
|
|
|
NM_020937.4(FANCM):c.2316+4G>C
|
|
|
|
NM_020937.4(FANCM):c.2316G>A (p.Glu772=)
|
|
|
|
NM_020937.4(FANCM):c.2318G>A (p.Gly773Glu)
|
|
|
|
NM_020937.4(FANCM):c.2323T>A (p.Cys775Ser)
|
|
|
|
NM_020937.4(FANCM):c.2328C>G (p.Ser776Arg)
|
rs1181869875
|
|
|
NM_020937.4(FANCM):c.2333A>C (p.Glu778Ala)
|
rs1888576524
|
|
|
NM_020937.4(FANCM):c.2342T>A (p.Val781Asp)
|
|
|
|
NM_020937.4(FANCM):c.2377A>G (p.Thr793Ala)
|
|
|
|
NM_020937.4(FANCM):c.2377A>T (p.Thr793Ser)
|
rs201232194
|
|
|
NM_020937.4(FANCM):c.2380T>C (p.Phe794Leu)
|
|
|
|
NM_020937.4(FANCM):c.23T>A (p.Leu8His)
|
|
|
|
NM_020937.4(FANCM):c.2420A>G (p.Asp807Gly)
|
|
|
|
NM_020937.4(FANCM):c.2423C>A (p.Thr808Asn)
|
|
|
|
NM_020937.4(FANCM):c.2436C>A (p.His812Gln)
|
|
|
|
NM_020937.4(FANCM):c.2436C>G (p.His812Gln)
|
rs1888585906
|
|
|
NM_020937.4(FANCM):c.2457G>T (p.Lys819Asn)
|
rs145592211
|
|
|
NM_020937.4(FANCM):c.2470G>A (p.Gly824Ser)
|
rs2139241694
|
|
|
NM_020937.4(FANCM):c.2471G>T (p.Gly824Val)
|
|
|
|
NM_020937.4(FANCM):c.247T>G (p.Trp83Gly)
|
rs1885493663
|
|
|
NM_020937.4(FANCM):c.2492A>C (p.Glu831Ala)
|
|
|
|
NM_020937.4(FANCM):c.2498A>C (p.Asp833Ala)
|
|
|
|
NM_020937.4(FANCM):c.2501A>C (p.Glu834Ala)
|
rs923735366
|
|
|
NM_020937.4(FANCM):c.2507G>T (p.Cys836Phe)
|
|
|
|
NM_020937.4(FANCM):c.251T>G (p.Ile84Ser)
|
|
|
|
NM_020937.4(FANCM):c.2527A>T (p.Thr843Ser)
|
|
|
|
NM_020937.4(FANCM):c.2530C>T (p.His844Tyr)
|
rs2139242067
|
|
|
NM_020937.4(FANCM):c.2539C>A (p.Pro847Thr)
|
|
|
|
NM_020937.4(FANCM):c.2545A>G (p.Lys849Glu)
|
rs1007624205
|
|
|
NM_020937.4(FANCM):c.2548A>G (p.Ile850Val)
|
rs2139242181
|
|
|
NM_020937.4(FANCM):c.254A>G (p.Tyr85Cys)
|
rs1555358445
|
|
|
NM_020937.4(FANCM):c.2563A>G (p.Lys855Glu)
|
|
|
|
NM_020937.4(FANCM):c.2567A>C (p.Lys856Thr)
|
rs565751937
|
|
|
NM_020937.4(FANCM):c.256C>T (p.Pro86Ser)
|
rs2139101859
|
|
|
NM_020937.4(FANCM):c.2578_2580del (p.Glu860del)
|
rs1888597959
|
|
|
NM_020937.4(FANCM):c.2582_2584del (p.Ile861del)
|
rs759751361
|
|
|
NM_020937.4(FANCM):c.2584A>G (p.Lys862Glu)
|
rs1888599671
|
|
|
NM_020937.4(FANCM):c.2599A>G (p.Lys867Glu)
|
rs1888601587
|
|
|
NM_020937.4(FANCM):c.2603A>T (p.Lys868Ile)
|
|
|
|
NM_020937.4(FANCM):c.260C>T (p.Thr87Ile)
|
|
|
|
NM_020937.4(FANCM):c.2617G>A (p.Gly873Ser)
|
rs538729337
|
|
|
NM_020937.4(FANCM):c.2617G>T (p.Gly873Cys)
|
rs538729337
|
|
|
NM_020937.4(FANCM):c.2624T>C (p.Ile875Thr)
|
rs1594797856
|
|
|
NM_020937.4(FANCM):c.263A>G (p.Asn88Ser)
|
rs1566716433
|
|
|
NM_020937.4(FANCM):c.2642A>G (p.Asp881Gly)
|
|
|
|
NM_020937.4(FANCM):c.2661A>C (p.Glu887Asp)
|
rs1888608441
|
|
|
NM_020937.4(FANCM):c.2662A>C (p.Asn888His)
|
rs755964806
|
|
|
NM_020937.4(FANCM):c.2672A>G (p.Gln891Arg)
|
rs753820999
|
|
|
NM_020937.4(FANCM):c.2673A>G (p.Gln891=)
|
rs1314872979
|
|
|
NM_020937.4(FANCM):c.2678A>G (p.Asp893Gly)
|
|
|
|
NM_020937.4(FANCM):c.2678_2680dup (p.Asp893_Leu894insHis)
|
|
|
|
NM_020937.4(FANCM):c.2686A>G (p.Asn896Asp)
|
|
|
|
NM_020937.4(FANCM):c.2687A>G (p.Asn896Ser)
|
rs2139243150
|
|
|
NM_020937.4(FANCM):c.2693A>G (p.Lys898Arg)
|
|
|
|
NM_020937.4(FANCM):c.2698A>C (p.Thr900Pro)
|
|
|
|
NM_020937.4(FANCM):c.2699C>T (p.Thr900Ile)
|
rs1555364640
|
|
|
NM_020937.4(FANCM):c.2705A>C (p.Asp902Ala)
|
|
|
|
NM_020937.4(FANCM):c.2723C>G (p.Ala908Gly)
|
rs201464936
|
|
|
NM_020937.4(FANCM):c.2723C>T (p.Ala908Val)
|
rs201464936
|
|
|
NM_020937.4(FANCM):c.2729G>A (p.Cys910Tyr)
|
rs2139243498
|
|
|
NM_020937.4(FANCM):c.272T>C (p.Val91Ala)
|
rs1885496103
|
|
|
NM_020937.4(FANCM):c.2741A>C (p.Glu914Ala)
|
rs774814027
|
|
|
NM_020937.4(FANCM):c.2754A>C (p.Lys918Asn)
|
|
|
|
NM_020937.4(FANCM):c.2764G>A (p.Val922Met)
|
rs1888619129
|
|
|
NM_020937.4(FANCM):c.2784G>T (p.Gln928His)
|
|
|
|
NM_020937.4(FANCM):c.2792A>G (p.Asn931Ser)
|
|
|
|
NM_020937.4(FANCM):c.2801C>G (p.Thr934Ser)
|
|
|
|
NM_020937.4(FANCM):c.2801C>T (p.Thr934Ile)
|
|
|
|
NM_020937.4(FANCM):c.2804G>A (p.Ser935Asn)
|
rs1888621670
|
|
|
NM_020937.4(FANCM):c.2804G>T (p.Ser935Ile)
|
rs1888621670
|
|
|
NM_020937.4(FANCM):c.2812G>T (p.Ala938Ser)
|
|
|
|
NM_020937.4(FANCM):c.2813C>G (p.Ala938Gly)
|
rs2139244001
|
|
|
NM_020937.4(FANCM):c.2834G>C (p.Gly945Ala)
|
rs1193165722
|
|
|
NM_020937.4(FANCM):c.2837A>G (p.Tyr946Cys)
|
|
|
|
NM_020937.4(FANCM):c.2842A>G (p.Ser948Gly)
|
|
|
|
NM_020937.4(FANCM):c.2861C>G (p.Ser954Cys)
|
rs1594798282
|
|
|
NM_020937.4(FANCM):c.2869T>C (p.Ser957Pro)
|
rs1888628299
|
|
|
NM_020937.4(FANCM):c.2881_2901del (p.Leu961_Leu967del)
|
rs1888630158
|
|
|
NM_020937.4(FANCM):c.2888T>C (p.Phe963Ser)
|
|
|
|
NM_020937.4(FANCM):c.2889C>G (p.Phe963Leu)
|
|
|
|
NM_020937.4(FANCM):c.2892A>G (p.Glu964=)
|
rs1300082794
|
|
|
NM_020937.4(FANCM):c.2896G>C (p.Glu966Gln)
|
rs762791482
|
|
|
NM_020937.4(FANCM):c.2908G>A (p.Val970Ile)
|
|
|
|
NM_020937.4(FANCM):c.2908G>T (p.Val970Phe)
|
rs1245895480
|
|
|
NM_020937.4(FANCM):c.2921A>G (p.Asp974Gly)
|
|
|
|
NM_020937.4(FANCM):c.2922C>A (p.Asp974Glu)
|
rs1888633712
|
|
|
NM_020937.4(FANCM):c.2952A>C (p.Lys984Asn)
|
|
|
|
NM_020937.4(FANCM):c.2956G>A (p.Val986Ile)
|
rs112345761
|
|
|
NM_020937.4(FANCM):c.295T>C (p.Ser99Pro)
|
|
|
|
NM_020937.4(FANCM):c.2967T>G (p.Asn989Lys)
|
|
|
|
NM_020937.4(FANCM):c.2971_2972delinsAG (p.Glu991Arg)
|
rs2139245094
|
|
|
NM_020937.4(FANCM):c.2979T>G (p.Phe993Leu)
|
|
|
|
NM_020937.4(FANCM):c.2990C>A (p.Ser997Tyr)
|
|
|
|
NM_020937.4(FANCM):c.3004A>G (p.Ser1002Gly)
|
rs1594798521
|
|
|
NM_020937.4(FANCM):c.301G>T (p.Ala101Ser)
|
|
|
|
NM_020937.4(FANCM):c.3037A>G (p.Lys1013Glu)
|
rs1888643453
|
|
|
NM_020937.4(FANCM):c.3041G>T (p.Gly1014Val)
|
|
|
|
NM_020937.4(FANCM):c.3054G>T (p.Glu1018Asp)
|
|
|
|
NM_020937.4(FANCM):c.3058T>A (p.Leu1020Met)
|
|
|
|
NM_020937.4(FANCM):c.3061C>T (p.Leu1021Phe)
|
|
|
|
NM_020937.4(FANCM):c.3064T>C (p.Phe1022Leu)
|
|
|
|
NM_020937.4(FANCM):c.3065T>C (p.Phe1022Ser)
|
rs1263906591
|
|
|
NM_020937.4(FANCM):c.307C>G (p.Leu103Val)
|
rs768136056
|
|
|
NM_020937.4(FANCM):c.3089G>A (p.Arg1030Gln)
|
rs1594798699
|
|
|
NM_020937.4(FANCM):c.3092G>T (p.Ser1031Ile)
|
rs1176625946
|
|
|
NM_020937.4(FANCM):c.3095A>G (p.Asp1032Gly)
|
rs776989238
|
|
|
NM_020937.4(FANCM):c.3095A>T (p.Asp1032Val)
|
rs776989238
|
|
|
NM_020937.4(FANCM):c.3102C>G (p.Cys1034Trp)
|
|
|
|
NM_020937.4(FANCM):c.3103A>C (p.Thr1035Pro)
|
rs1594798747
|
|
|
NM_020937.4(FANCM):c.3103A>T (p.Thr1035Ser)
|
|
|
|
NM_020937.4(FANCM):c.3111G>C (p.Leu1037Phe)
|
rs2139246120
|
|
|
NM_020937.4(FANCM):c.3113T>C (p.Leu1038Pro)
|
|
|
|
NM_020937.4(FANCM):c.3134C>T (p.Ser1045Phe)
|
|
|
|
NM_020937.4(FANCM):c.3149A>T (p.Glu1050Val)
|
|
|
|
NM_020937.4(FANCM):c.3152T>C (p.Leu1051Ser)
|
rs1888655331
|
|
|
NM_020937.4(FANCM):c.3166T>G (p.Cys1056Gly)
|
|
|
|
NM_020937.4(FANCM):c.3187A>G (p.Lys1063Glu)
|
rs1171533572
|
|
|
NM_020937.4(FANCM):c.3191G>A (p.Ser1064Asn)
|
|
|
|
NM_020937.4(FANCM):c.3205A>G (p.Ile1069Val)
|
rs2139246678
|
|
|
NM_020937.4(FANCM):c.3206T>C (p.Ile1069Thr)
|
|
|
|
NM_020937.4(FANCM):c.3218A>G (p.Asn1073Ser)
|
rs1888660531
|
|
|
NM_020937.4(FANCM):c.3221T>C (p.Ile1074Thr)
|
|
|
|
NM_020937.4(FANCM):c.3224C>A (p.Ser1075Tyr)
|
rs1888661185
|
|
|
NM_020937.4(FANCM):c.3224C>T (p.Ser1075Phe)
|
|
|
|
NM_020937.4(FANCM):c.3227A>G (p.Asp1076Gly)
|
|
|
|
NM_020937.4(FANCM):c.3238C>G (p.Leu1080Val)
|
rs1888662319
|
|
|
NM_020937.4(FANCM):c.3238C>T (p.Leu1080Phe)
|
|
|
|
NM_020937.4(FANCM):c.3240CTGTGA[1] (p.1081CD[1])
|
rs1888662522
|
|
|
NM_020937.4(FANCM):c.3242G>A (p.Cys1081Tyr)
|
rs1273042421
|
|
|
NM_020937.4(FANCM):c.3244G>A (p.Asp1082Asn)
|
rs2139246974
|
|
|
NM_020937.4(FANCM):c.3247T>C (p.Cys1083Arg)
|
rs1594798970
|
|
|
NM_020937.4(FANCM):c.324G>A (p.Leu108=)
|
rs1885502120
|
|
|
NM_020937.4(FANCM):c.3254T>C (p.Val1085Ala)
|
|
|
|
NM_020937.4(FANCM):c.3258T>A (p.His1086Gln)
|
rs2139247109
|
|
|
NM_020937.4(FANCM):c.3261A>T (p.Lys1087Asn)
|
rs1888664392
|
|
|
NM_020937.4(FANCM):c.3263A>G (p.His1088Arg)
|
|
|
|
NM_020937.4(FANCM):c.3268C>G (p.Gln1090Glu)
|
rs752061240
|
|
|
NM_020937.4(FANCM):c.326T>C (p.Val109Ala)
|
rs1594750831
|
|
|
NM_020937.4(FANCM):c.3292A>G (p.Asn1098Asp)
|
rs1888666556
|
|
|
NM_020937.4(FANCM):c.3303A>C (p.Gln1101His)
|
rs1403821078
|
|
|
NM_020937.4(FANCM):c.3313A>G (p.Ser1105Gly)
|
rs777264888
|
|
|
NM_020937.4(FANCM):c.3319G>A (p.Ala1107Thr)
|
rs996666429
|
|
|
NM_020937.4(FANCM):c.3323A>G (p.Gln1108Arg)
|
rs376223629
|
|
|
NM_020937.4(FANCM):c.3327T>A (p.Asn1109Lys)
|
|
|
|
NM_020937.4(FANCM):c.3331G>A (p.Val1111Ile)
|
|
|
|
NM_020937.4(FANCM):c.3344A>G (p.Asn1115Ser)
|
|
|
|
NM_020937.4(FANCM):c.3366C>A (p.Asp1122Glu)
|
rs768546653
|
|
|
NM_020937.4(FANCM):c.3367C>T (p.Leu1123Phe)
|
rs1888672087
|
|
|
NM_020937.4(FANCM):c.3368T>C (p.Leu1123Pro)
|
|
|
|
NM_020937.4(FANCM):c.3373G>C (p.Val1125Leu)
|
rs1594799126
|
|
|
NM_020937.4(FANCM):c.3382A>T (p.Thr1128Ser)
|
|
|
|
NM_020937.4(FANCM):c.3394G>A (p.Glu1132Lys)
|
|
|
|
NM_020937.4(FANCM):c.3402G>C (p.Leu1134Phe)
|
rs1888675805
|
|
|
NM_020937.4(FANCM):c.3410T>G (p.Phe1137Cys)
|
rs774431370
|
|
|
NM_020937.4(FANCM):c.3436G>C (p.Asp1146His)
|
|
|
|
NM_020937.4(FANCM):c.3440T>G (p.Val1147Gly)
|
|
|
|
NM_020937.4(FANCM):c.3442A>G (p.Ser1148Gly)
|
rs1888681289
|
|
|
NM_020937.4(FANCM):c.3455T>C (p.Leu1152Ser)
|
rs948354347
|
|
|
NM_020937.4(FANCM):c.3460A>G (p.Ser1154Gly)
|
|
|
|
NM_020937.4(FANCM):c.3461G>T (p.Ser1154Ile)
|
|
|
|
NM_020937.4(FANCM):c.3467G>A (p.Ser1156Asn)
|
rs2139248693
|
|
|
NM_020937.4(FANCM):c.3478C>G (p.Pro1160Ala)
|
|
|
|
NM_020937.4(FANCM):c.3489C>A (p.Asp1163Glu)
|
|
|
|
NM_020937.4(FANCM):c.3489C>G (p.Asp1163Glu)
|
|
|
|
NM_020937.4(FANCM):c.3494C>G (p.Thr1165Ser)
|
rs200110609
|
|
|
NM_020937.4(FANCM):c.3494_3499dup (p.Ala1166_Ile1167insThrAla)
|
|
|
|
NM_020937.4(FANCM):c.3500T>C (p.Ile1167Thr)
|
rs1888687169
|
|
|
NM_020937.4(FANCM):c.3504T>G (p.Ser1168Arg)
|
rs2139249069
|
|
|
NM_020937.4(FANCM):c.3514C>G (p.Leu1172Val)
|
rs774361836
|
|
|
NM_020937.4(FANCM):c.3517G>A (p.Val1173Ile)
|
rs772176794
|
|
|
NM_020937.4(FANCM):c.3525G>C (p.Gln1175His)
|
rs761300333
|
|
|
NM_020937.4(FANCM):c.3525G>T (p.Gln1175His)
|
rs761300333
|
|
|
NM_020937.4(FANCM):c.3539A>G (p.Asp1180Gly)
|
rs2139249394
|
|
|
NM_020937.4(FANCM):c.3556A>G (p.Asn1186Asp)
|
rs1375995948
|
|
|
NM_020937.4(FANCM):c.3568C>T (p.Leu1190Phe)
|
rs367682848
|
|
|
NM_020937.4(FANCM):c.3578A>C (p.Gln1193Pro)
|
rs1888695039
|
|
|
NM_020937.4(FANCM):c.3584C>G (p.Thr1195Ser)
|
|
|
|
NM_020937.4(FANCM):c.3586C>T (p.Arg1196Cys)
|
rs1360072407
|
|
|
NM_020937.4(FANCM):c.3613G>A (p.Asp1205Asn)
|
rs936653683
|
|
|
NM_020937.4(FANCM):c.3625G>A (p.Val1209Ile)
|
|
|
|
NM_020937.4(FANCM):c.3626T>C (p.Val1209Ala)
|
|
|
|
NM_020937.4(FANCM):c.3628C>G (p.Gln1210Glu)
|
rs372276411
|
|
|
NM_020937.4(FANCM):c.362C>T (p.Ala121Val)
|
rs899740775
|
|
|
NM_020937.4(FANCM):c.3631G>A (p.Glu1211Lys)
|
|
|
|
NM_020937.4(FANCM):c.3640G>A (p.Val1214Met)
|
rs1888701877
|
|
|
NM_020937.4(FANCM):c.3650A>C (p.His1217Pro)
|
rs762245674
|
|
|
NM_020937.4(FANCM):c.3653A>G (p.Glu1218Gly)
|
rs2139250247
|
|
|
NM_020937.4(FANCM):c.3654G>C (p.Glu1218Asp)
|
|
|
|
NM_020937.4(FANCM):c.3659T>G (p.Ile1220Ser)
|
rs2139250318
|
|
|
NM_020937.4(FANCM):c.3662T>C (p.Phe1221Ser)
|
rs1350824740
|
|
|
NM_020937.4(FANCM):c.3664G>C (p.Asp1222His)
|
rs145411480
|
|
|
NM_020937.4(FANCM):c.3670T>C (p.Ser1224Pro)
|
|
|
|
NM_020937.4(FANCM):c.3683T>C (p.Phe1228Ser)
|
rs1566765698
|
|
|
NM_020937.4(FANCM):c.3692C>A (p.Thr1231Asn)
|
rs1555364981
|
|
|
NM_020937.4(FANCM):c.3697G>C (p.Asp1233His)
|
rs1888706777
|
|
|
NM_020937.4(FANCM):c.36G>T (p.Trp12Cys)
|
rs2139099472
|
|
|
NM_020937.4(FANCM):c.3703G>C (p.Gly1235Arg)
|
rs1888706953
|
|
|
NM_020937.4(FANCM):c.3706T>G (p.Phe1236Val)
|
|
|
|
NM_020937.4(FANCM):c.3725A>G (p.Asp1242Gly)
|
rs994282538
|
|
|
NM_020937.4(FANCM):c.3729T>G (p.Asp1243Glu)
|
|
|
|
NM_020937.4(FANCM):c.3736T>G (p.Leu1246Val)
|
rs1888710046
|
|
|
NM_020937.4(FANCM):c.3743A>G (p.His1248Arg)
|
rs1181209142
|
|
|
NM_020937.4(FANCM):c.3746C>A (p.Thr1249Lys)
|
rs768667842
|
|
|
NM_020937.4(FANCM):c.374T>C (p.Met125Thr)
|
rs780601895
|
|
|
NM_020937.4(FANCM):c.3752A>G (p.Asp1251Gly)
|
rs1425871684
|
|
|
NM_020937.4(FANCM):c.375G>A (p.Met125Ile)
|
|
|
|
NM_020937.4(FANCM):c.3760A>G (p.Arg1254Gly)
|
|
|
|
NM_020937.4(FANCM):c.3763C>T (p.Pro1255Ser)
|
rs770651053
|
|
|
NM_020937.4(FANCM):c.3767T>G (p.Leu1256Arg)
|
|
|
|
NM_020937.4(FANCM):c.3769GAT[1] (p.Asp1258del)
|
rs2139251128
|
|
|
NM_020937.4(FANCM):c.3785G>A (p.Arg1262Lys)
|
rs2139251254
|
|
|
NM_020937.4(FANCM):c.3788A>G (p.Tyr1263Cys)
|
|
|
|
NM_020937.4(FANCM):c.3793G>C (p.Glu1265Gln)
|
rs1566766047
|
|
|
NM_020937.4(FANCM):c.3799A>C (p.Lys1267Gln)
|
rs1888716067
|
|
|
NM_020937.4(FANCM):c.3819T>A (p.Asn1273Lys)
|
rs2139251440
|
|
|
NM_020937.4(FANCM):c.3831T>A (p.Asn1277Lys)
|
rs1888717904
|
|
|
NM_020937.4(FANCM):c.3856A>G (p.Ser1286Gly)
|
|
|
|
NM_020937.4(FANCM):c.3857G>T (p.Ser1286Ile)
|
|
|
|
NM_020937.4(FANCM):c.385T>C (p.Tyr129His)
|
rs1360033335
|
|
|
NM_020937.4(FANCM):c.3871A>G (p.Ser1291Gly)
|
|
|
|
NM_020937.4(FANCM):c.3875G>A (p.Gly1292Glu)
|
|
|
|
NM_020937.4(FANCM):c.3882TAT[1] (p.Ile1296del)
|
rs1312125043
|
|
|
NM_020937.4(FANCM):c.3883A>G (p.Ile1295Val)
|
rs2139251959
|
|
|
NM_020937.4(FANCM):c.388C>G (p.Arg130Gly)
|
rs758891745
|
|
|
NM_020937.4(FANCM):c.388C>T (p.Arg130Cys)
|
rs758891745
|
|
|
NM_020937.4(FANCM):c.3896A>T (p.Asn1299Ile)
|
rs761637559
|
|
|
NM_020937.4(FANCM):c.389G>A (p.Arg130His)
|
rs751804045
|
|
|
NM_020937.4(FANCM):c.389G>T (p.Arg130Leu)
|
|
|
|
NM_020937.4(FANCM):c.3900A>C (p.Glu1300Asp)
|
|
|
|
NM_020937.4(FANCM):c.3902A>T (p.Asp1301Val)
|
rs1183935509
|
|
|
NM_020937.4(FANCM):c.3907C>A (p.Gln1303Lys)
|
rs369549739
|
|
|
NM_020937.4(FANCM):c.3916A>G (p.Asn1306Asp)
|
|
|
|
NM_020937.4(FANCM):c.3919T>C (p.Tyr1307His)
|
rs1888726971
|
|
|
NM_020937.4(FANCM):c.3931C>T (p.Pro1311Ser)
|
rs143997277
|
|
|
NM_020937.4(FANCM):c.3941C>T (p.Ala1314Val)
|
|
|
|
NM_020937.4(FANCM):c.3960G>C (p.Leu1320Phe)
|
|
|
|
NM_020937.4(FANCM):c.3962T>C (p.Leu1321Ser)
|
|
|
|
NM_020937.4(FANCM):c.3964T>G (p.Ser1322Ala)
|
|
|
|
NM_020937.4(FANCM):c.3965C>T (p.Ser1322Phe)
|
rs1594800025
|
|
|
NM_020937.4(FANCM):c.3968C>A (p.Pro1323His)
|
|
|
|
NM_020937.4(FANCM):c.3968C>T (p.Pro1323Leu)
|
rs1369746830
|
|
|
NM_020937.4(FANCM):c.3977C>T (p.Ser1326Phe)
|
|
|
|
NM_020937.4(FANCM):c.3989T>C (p.Leu1330Ser)
|
|
|
|
NM_020937.4(FANCM):c.398C>T (p.Pro133Leu)
|
rs139382920
|
|
|
NM_020937.4(FANCM):c.3995T>C (p.Val1332Ala)
|
|
|
|
NM_020937.4(FANCM):c.4016C>T (p.Thr1339Ile)
|
|
|
|
NM_020937.4(FANCM):c.4027A>G (p.Lys1343Glu)
|
rs2139253150
|
|
|
NM_020937.4(FANCM):c.4030T>C (p.Ser1344Pro)
|
rs1888737260
|
|
|
NM_020937.4(FANCM):c.403G>A (p.Gly135Arg)
|
rs1594750987
|
|
|
NM_020937.4(FANCM):c.4045T>A (p.Ser1349Thr)
|
|
|
|
NM_020937.4(FANCM):c.4054A>G (p.Lys1352Glu)
|
rs1888737946
|
|
|
NM_020937.4(FANCM):c.4057A>T (p.Ile1353Leu)
|
|
|
|
NM_020937.4(FANCM):c.4061G>A (p.Arg1354Lys)
|
rs1302733474
|
|
|
NM_020937.4(FANCM):c.4069A>G (p.Ile1357Val)
|
rs1555365093
|
|
|
NM_020937.4(FANCM):c.4073T>C (p.Leu1358Pro)
|
|
|
|
NM_020937.4(FANCM):c.4084G>T (p.Asp1362Tyr)
|
|
|
|
NM_020937.4(FANCM):c.4088C>G (p.Ser1363Cys)
|
|
|
|
NM_020937.4(FANCM):c.4090A>G (p.Ser1364Gly)
|
|
|
|
NM_020937.4(FANCM):c.4096G>A (p.Glu1366Lys)
|
rs2139253441
|
|
|
NM_020937.4(FANCM):c.4103T>C (p.Val1368Ala)
|
rs958088496
|
|
|
NM_020937.4(FANCM):c.4115G>T (p.Arg1372Ile)
|
rs1888742620
|
|
|
NM_020937.4(FANCM):c.4121A>G (p.Lys1374Arg)
|
rs1888743641
|
|
|
NM_020937.4(FANCM):c.4132A>C (p.Asn1378His)
|
rs1594800247
|
|
|
NM_020937.4(FANCM):c.4143T>G (p.Phe1381Leu)
|
rs2139253752
|
|
|
NM_020937.4(FANCM):c.4145A>G (p.Asp1382Gly)
|
rs2139253766
|
|
|
NM_020937.4(FANCM):c.4145A>T (p.Asp1382Val)
|
|
|
|
NM_020937.4(FANCM):c.4148A>G (p.Tyr1383Cys)
|
|
|
|
NM_020937.4(FANCM):c.4162C>G (p.Leu1388Val)
|
rs769653358
|
|
|
NM_020937.4(FANCM):c.4163T>C (p.Leu1388Pro)
|
|
|
|
NM_020937.4(FANCM):c.4174A>G (p.Lys1392Glu)
|
|
|
|
NM_020937.4(FANCM):c.4184G>T (p.Gly1395Val)
|
rs1203349245
|
|
|
NM_020937.4(FANCM):c.4187_4189dup (p.Pro1396_Met1397insThr)
|
rs1888747763
|
|
|
NM_020937.4(FANCM):c.419T>C (p.Met140Thr)
|
rs1885514534
|
|
|
NM_020937.4(FANCM):c.420G>A (p.Met140Ile)
|
rs1329485751
|
|
|
NM_020937.4(FANCM):c.4222+4A>C
|
|
|
|
NM_020937.4(FANCM):c.4223A>G (p.Asp1408Gly)
|
|
|
|
NM_020937.4(FANCM):c.4223A>T (p.Asp1408Val)
|
|
|
|
NM_020937.4(FANCM):c.4225G>A (p.Gly1409Arg)
|
|
|
|
NM_020937.4(FANCM):c.4231TTA[1] (p.Leu1412del)
|
rs1889061790
|
|
|
NM_020937.4(FANCM):c.4246G>A (p.Glu1416Lys)
|
|
|
|
NM_020937.4(FANCM):c.424C>A (p.Pro142Thr)
|
|
|
|
NM_020937.4(FANCM):c.4261G>A (p.Glu1421Lys)
|
rs886050502
|
|
|
NM_020937.4(FANCM):c.4274G>A (p.Arg1425Lys)
|
rs2139270169
|
|
|
NM_020937.4(FANCM):c.4277A>G (p.Lys1426Arg)
|
|
|
|
NM_020937.4(FANCM):c.427A>G (p.Thr143Ala)
|
|
|
|
NM_020937.4(FANCM):c.4318G>A (p.Asp1440Asn)
|
|
|
|
NM_020937.4(FANCM):c.4319A>G (p.Asp1440Gly)
|
rs2139270979
|
|
|
NM_020937.4(FANCM):c.431A>C (p.Lys144Thr)
|
|
|
|
NM_020937.4(FANCM):c.4320T>G (p.Asp1440Glu)
|
rs2139270994
|
|
|
NM_020937.4(FANCM):c.4342T>A (p.Ser1448Thr)
|
|
|
|
NM_020937.4(FANCM):c.4346C>T (p.Pro1449Leu)
|
|
|
|
NM_020937.4(FANCM):c.4348C>T (p.Leu1450Phe)
|
|
|
|
NM_020937.4(FANCM):c.4352A>T (p.His1451Leu)
|
rs572890751
|
|
|
NM_020937.4(FANCM):c.4353T>A (p.His1451Gln)
|
|
|
|
NM_020937.4(FANCM):c.4360A>G (p.Lys1454Glu)
|
|
|
|
NM_020937.4(FANCM):c.4367G>T (p.Arg1456Leu)
|
rs749332566
|
|
|
NM_020937.4(FANCM):c.4383C>G (p.Asn1461Lys)
|
|
|
|
NM_020937.4(FANCM):c.4386+14A>G
|
|
|
|
NM_020937.4(FANCM):c.4386+16G>C
|
|
|
|
NM_020937.4(FANCM):c.4386+2dup
|
rs1889085424
|
|
|
NM_020937.4(FANCM):c.4387-5_4387-3del
|
rs1566775466
|
|
|
NM_020937.4(FANCM):c.4387-6T>C
|
rs1889209053
|
|
|
NM_020937.4(FANCM):c.4391A>G (p.Glu1464Gly)
|
rs1889210004
|
|
|
NM_020937.4(FANCM):c.4405G>T (p.Asp1469Tyr)
|
rs1889211661
|
|
|
NM_020937.4(FANCM):c.443C>T (p.Thr148Ile)
|
|
|
|
NM_020937.4(FANCM):c.4447G>C (p.Asp1483His)
|
rs1889215664
|
|
|
NM_020937.4(FANCM):c.4454A>G (p.Lys1485Arg)
|
rs2139278064
|
|
|
NM_020937.4(FANCM):c.4469A>G (p.Asn1490Ser)
|
|
|
|
NM_020937.4(FANCM):c.447_448delinsAG (p.Gln150Glu)
|
rs1885518528
|
|
|
NM_020937.4(FANCM):c.4480G>T (p.Gly1494Cys)
|
rs772085199
|
|
|
NM_020937.4(FANCM):c.4481G>A (p.Gly1494Asp)
|
rs1889220204
|
|
|
NM_020937.4(FANCM):c.4486A>G (p.Lys1496Glu)
|
|
|
|
NM_020937.4(FANCM):c.4489G>A (p.Val1497Ile)
|
rs369576101
|
|
|
NM_020937.4(FANCM):c.4493C>G (p.Pro1498Arg)
|
|
|
|
NM_020937.4(FANCM):c.4501C>A (p.Gln1501Lys)
|
rs755947203
|
|
|
NM_020937.4(FANCM):c.4515+4A>G
|
|
|
|
NM_020937.4(FANCM):c.4515+6C>A
|
|
|
|
NM_020937.4(FANCM):c.4517A>T (p.His1506Leu)
|
rs775457463
|
|
|
NM_020937.4(FANCM):c.4536A>C (p.Leu1512Phe)
|
|
|
|
NM_020937.4(FANCM):c.4545A>T (p.Glu1515Asp)
|
rs1889323052
|
|
|
NM_020937.4(FANCM):c.454G>A (p.Glu152Lys)
|
rs1885519043
|
|
|
NM_020937.4(FANCM):c.4552C>G (p.Leu1518Val)
|
|
|
|
NM_020937.4(FANCM):c.4552_4553insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu1517_Leu1518insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)
|
|
|
|
NM_020937.4(FANCM):c.4562A>T (p.Glu1521Val)
|
|
|
|
NM_020937.4(FANCM):c.4566T>G (p.Asp1522Glu)
|
rs375131983
|
|
|
NM_020937.4(FANCM):c.4568C>A (p.Ala1523Glu)
|
|
|
|
NM_020937.4(FANCM):c.4568C>G (p.Ala1523Gly)
|
rs960743288
|
|
|
NM_020937.4(FANCM):c.4573T>C (p.Tyr1525His)
|
|
|
|
NM_020937.4(FANCM):c.4576G>A (p.Val1526Ile)
|
rs982820875
|
|
|
NM_020937.4(FANCM):c.457G>C (p.Ala153Pro)
|
|
|
|
NM_020937.4(FANCM):c.4582T>G (p.Ser1528Ala)
|
rs1889328561
|
|
|
NM_020937.4(FANCM):c.4585G>A (p.Asp1529Asn)
|
rs1245071059
|
|
|
NM_020937.4(FANCM):c.4591A>G (p.Asn1531Asp)
|
|
|
|
NM_020937.4(FANCM):c.4593TGA[1] (p.Asp1532del)
|
|
|
|
NM_020937.4(FANCM):c.4594G>A (p.Asp1532Asn)
|
|
|
|
NM_020937.4(FANCM):c.4603G>C (p.Glu1535Gln)
|
|
|
|
NM_020937.4(FANCM):c.4619C>T (p.Ser1540Phe)
|
rs1889332251
|
|
|
NM_020937.4(FANCM):c.4641T>A (p.Asn1547Lys)
|
rs932577451
|
|
|
NM_020937.4(FANCM):c.4643A>G (p.Asp1548Gly)
|
|
|
|
NM_020937.4(FANCM):c.4645G>A (p.Glu1549Lys)
|
|
|
|
NM_020937.4(FANCM):c.4648A>T (p.Thr1550Ser)
|
|
|
|
NM_020937.4(FANCM):c.4651C>G (p.Gln1551Glu)
|
rs1889335215
|
|
|
NM_020937.4(FANCM):c.4654C>A (p.Leu1552Ile)
|
|
|
|
NM_020937.4(FANCM):c.4657T>G (p.Ser1553Ala)
|
rs2139284324
|
|
|
NM_020937.4(FANCM):c.4661A>G (p.Gln1554Arg)
|
|
|
|
NM_020937.4(FANCM):c.4664C>G (p.Ala1555Gly)
|
rs2139284354
|
|
|
NM_020937.4(FANCM):c.4666A>G (p.Ile1556Val)
|
|
|
|
NM_020937.4(FANCM):c.4668A>G (p.Ile1556Met)
|
|
|
|
NM_020937.4(FANCM):c.4672+6T>A
|
|
|
|
NM_020937.4(FANCM):c.4681A>G (p.Met1561Val)
|
rs2139291810
|
|
|
NM_020937.4(FANCM):c.4691T>C (p.Ile1564Thr)
|
rs1889499436
|
|
|
NM_020937.4(FANCM):c.46A>G (p.Ile16Val)
|
|
|
|
NM_020937.4(FANCM):c.4708C>A (p.Arg1570Ser)
|
rs139376041
|
|
|
NM_020937.4(FANCM):c.4709G>T (p.Arg1570Leu)
|
|
|
|
NM_020937.4(FANCM):c.4721T>G (p.Met1574Arg)
|
|
|
|
NM_020937.4(FANCM):c.4725C>G (p.Asn1575Lys)
|
|
|
|
NM_020937.4(FANCM):c.4739T>G (p.Met1580Arg)
|
rs1889503433
|
|
|
NM_020937.4(FANCM):c.4741A>G (p.Ile1581Val)
|
rs1649188416
|
|
|
NM_020937.4(FANCM):c.474_479del (p.Met158_Gly159del)
|
|
|
|
NM_020937.4(FANCM):c.4763T>C (p.Ile1588Thr)
|
rs2139292209
|
|
|
NM_020937.4(FANCM):c.476G>C (p.Gly159Ala)
|
|
|
|
NM_020937.4(FANCM):c.4771T>A (p.Phe1591Ile)
|
rs773152045
|
|
|
NM_020937.4(FANCM):c.4779+5_4779+9del
|
rs1889507289
|
|
|
NM_020937.4(FANCM):c.4779+6A>T
|
|
|
|
NM_020937.4(FANCM):c.4780-20T>G
|
|
|
|
NM_020937.4(FANCM):c.4780A>G (p.Ile1594Val)
|
|
|
|
NM_020937.4(FANCM):c.4805T>C (p.Leu1602Ser)
|
|
|
|
NM_020937.4(FANCM):c.4810G>T (p.Asp1604Tyr)
|
|
|
|
NM_020937.4(FANCM):c.4817T>C (p.Phe1606Ser)
|
|
|
|
NM_020937.4(FANCM):c.4821T>G (p.Cys1607Trp)
|
|
|
|
NM_020937.4(FANCM):c.4825G>A (p.Asp1609Asn)
|
|
|
|
NM_020937.4(FANCM):c.4850A>G (p.Gln1617Arg)
|
|
|
|
NM_020937.4(FANCM):c.4857T>A (p.Ser1619Arg)
|
rs1594814748
|
|
|
NM_020937.4(FANCM):c.4859A>G (p.Glu1620Gly)
|
rs2139295530
|
|
|
NM_020937.4(FANCM):c.4884C>A (p.Asn1628Lys)
|
rs1594814788
|
|
|
NM_020937.4(FANCM):c.4901_4902delinsTT (p.Cys1634Phe)
|
|
|
|
NM_020937.4(FANCM):c.4934G>C (p.Arg1645Pro)
|
|
|
|
NM_020937.4(FANCM):c.4943T>G (p.Met1648Arg)
|
rs766886760
|
|
|
NM_020937.4(FANCM):c.4951G>C (p.Glu1651Gln)
|
rs752279370
|
|
|
NM_020937.4(FANCM):c.4954A>G (p.Met1652Val)
|
|
|
|
NM_020937.4(FANCM):c.4972G>C (p.Ala1658Pro)
|
rs1889586772
|
|
|
NM_020937.4(FANCM):c.4979C>T (p.Ser1660Leu)
|
rs547959452
|
|
|
NM_020937.4(FANCM):c.4981A>G (p.Lys1661Glu)
|
rs1324848045
|
|
|
NM_020937.4(FANCM):c.4999ATT[1] (p.Ile1668del)
|
|
|
|
NM_020937.4(FANCM):c.5008C>T (p.Pro1670Ser)
|
rs1594814972
|
|
|
NM_020937.4(FANCM):c.5023GAG[2] (p.Glu1677del)
|
rs750497256
|
|
|
NM_020937.4(FANCM):c.5034C>A (p.Asn1678Lys)
|
|
|
|
NM_020937.4(FANCM):c.5041A>G (p.Asn1681Asp)
|
rs2139296522
|
|
|
NM_020937.4(FANCM):c.5044G>C (p.Asp1682His)
|
|
|
|
NM_020937.4(FANCM):c.5045A>C (p.Asp1682Ala)
|
rs2139296568
|
|
|
NM_020937.4(FANCM):c.5045A>G (p.Asp1682Gly)
|
|
|
|
NM_020937.4(FANCM):c.5046T>G (p.Asp1682Glu)
|
rs1302536129
|
|
|
NM_020937.4(FANCM):c.5059A>G (p.Asn1687Asp)
|
|
|
|
NM_020937.4(FANCM):c.505A>G (p.Thr169Ala)
|
|
|
|
NM_020937.4(FANCM):c.5062A>G (p.Ile1688Val)
|
|
|
|
NM_020937.4(FANCM):c.5068G>A (p.Val1690Ile)
|
rs752352756
|
|
|
NM_020937.4(FANCM):c.5068G>C (p.Val1690Leu)
|
rs752352756
|
|
|
NM_020937.4(FANCM):c.5072A>G (p.Asn1691Ser)
|
rs1594815120
|
|
|
NM_020937.4(FANCM):c.5078G>A (p.Ser1693Asn)
|
rs528554660
|
|
|
NM_020937.4(FANCM):c.508+3A>G
|
rs775341176
|
|
|
NM_020937.4(FANCM):c.508+5C>G
|
rs886050497
|
|
|
NM_020937.4(FANCM):c.5088GAA[1] (p.Lys1697del)
|
rs2139296928
|
|
|
NM_020937.4(FANCM):c.509-16T>C
|
|
|
|
NM_020937.4(FANCM):c.5095A>G (p.Lys1699Glu)
|
rs2139296999
|
|
|
NM_020937.4(FANCM):c.5096A>G (p.Lys1699Arg)
|
|
|
|
NM_020937.4(FANCM):c.5104G>C (p.Asp1702His)
|
|
|
|
NM_020937.4(FANCM):c.5104G>T (p.Asp1702Tyr)
|
rs1033212754
|
|
|
NM_020937.4(FANCM):c.5107C>G (p.His1703Asp)
|
rs367653310
|
|
|
NM_020937.4(FANCM):c.5107C>T (p.His1703Tyr)
|
|
|
|
NM_020937.4(FANCM):c.511T>C (p.Ser171Pro)
|
rs1885568109
|
|
|
NM_020937.4(FANCM):c.5120C>T (p.Ser1707Leu)
|
|
|
|
NM_020937.4(FANCM):c.5122G>T (p.Val1708Leu)
|
rs1566783242
|
|
|
NM_020937.4(FANCM):c.5141C>A (p.Ala1714Glu)
|
rs139383231
|
|
|
NM_020937.4(FANCM):c.5147C>T (p.Ser1716Phe)
|
|
|
|
NM_020937.4(FANCM):c.5149A>C (p.Lys1717Gln)
|
|
|
|
NM_020937.4(FANCM):c.5156G>T (p.Arg1719Leu)
|
rs760421586
|
|
|
NM_020937.4(FANCM):c.5177C>G (p.Pro1726Arg)
|
|
|
|
NM_020937.4(FANCM):c.5185A>G (p.Lys1729Glu)
|
|
|
|
NM_020937.4(FANCM):c.5197C>G (p.Gln1733Glu)
|
rs374587255
|
|
|
NM_020937.4(FANCM):c.5200A>G (p.Thr1734Ala)
|
rs756631911
|
|
|
NM_020937.4(FANCM):c.5233G>A (p.Val1745Ile)
|
|
|
|
NM_020937.4(FANCM):c.5237C>T (p.Ser1746Leu)
|
rs1889613187
|
|
|
NM_020937.4(FANCM):c.5239G>C (p.Asp1747His)
|
|
|
|
NM_020937.4(FANCM):c.5249C>T (p.Pro1750Leu)
|
|
|
|
NM_020937.4(FANCM):c.5260A>T (p.Asn1754Tyr)
|
|
|
|
NM_020937.4(FANCM):c.526A>C (p.Thr176Pro)
|
|
|
|
NM_020937.4(FANCM):c.5270A>G (p.Gln1757Arg)
|
|
|
|
NM_020937.4(FANCM):c.5281C>G (p.Pro1761Ala)
|
rs540327722
|
|
|
NM_020937.4(FANCM):c.5282C>T (p.Pro1761Leu)
|
rs1395216158
|
|
|
NM_020937.4(FANCM):c.5285C>G (p.Pro1762Arg)
|
rs747356020
|
|
|
NM_020937.4(FANCM):c.5290A>G (p.Thr1764Ala)
|
rs776417170
|
|
|
NM_020937.4(FANCM):c.5291C>T (p.Thr1764Ile)
|
rs1889619711
|
|
|
NM_020937.4(FANCM):c.5293A>G (p.Thr1765Ala)
|
rs1386457912
|
|
|
NM_020937.4(FANCM):c.5297T>C (p.Val1766Ala)
|
rs368109537
|
|
|
NM_020937.4(FANCM):c.5305C>G (p.Gln1769Glu)
|
rs1277570500
|
|
|
NM_020937.4(FANCM):c.5313C>A (p.Asp1771Glu)
|
|
|
|
NM_020937.4(FANCM):c.5318G>C (p.Arg1773Thr)
|
rs1594815624
|
|
|
NM_020937.4(FANCM):c.5327C>T (p.Pro1776Leu)
|
|
|
|
NM_020937.4(FANCM):c.5333C>T (p.Pro1778Leu)
|
rs1212903067
|
|
|
NM_020937.4(FANCM):c.5340+4T>C
|
|
|
|
NM_020937.4(FANCM):c.5340delinsTGGAATCACT (p.Lys1780delinsAsnGlyIleThr)
|
rs1889624694
|
|
|
NM_020937.4(FANCM):c.5341-3C>T
|
rs1890043451
|
|
|
NM_020937.4(FANCM):c.5348G>A (p.Ser1783Asn)
|
rs997324391
|
|
|
NM_020937.4(FANCM):c.5372C>T (p.Ser1791Leu)
|
|
|
|
NM_020937.4(FANCM):c.5375G>A (p.Gly1792Glu)
|
|
|
|
NM_020937.4(FANCM):c.5387C>G (p.Ser1796Cys)
|
|
|
|
NM_020937.4(FANCM):c.5387C>T (p.Ser1796Phe)
|
rs1275681669
|
|
|
NM_020937.4(FANCM):c.5396G>T (p.Arg1799Ile)
|
rs996654030
|
|
|
NM_020937.4(FANCM):c.539T>C (p.Ile180Thr)
|
rs2139106376
|
|
|
NM_020937.4(FANCM):c.541T>C (p.Trp181Arg)
|
rs1885571765
|
|
|
NM_020937.4(FANCM):c.5432T>A (p.Leu1811His)
|
|
|
|
NM_020937.4(FANCM):c.5434C>A (p.Pro1812Thr)
|
rs3736772
|
|
|
NM_020937.4(FANCM):c.543G>T (p.Trp181Cys)
|
rs749507878
|
|
|
NM_020937.4(FANCM):c.5443G>A (p.Gly1815Arg)
|
rs766516817
|
|
|
NM_020937.4(FANCM):c.5444G>A (p.Gly1815Glu)
|
|
|
|
NM_020937.4(FANCM):c.5447A>G (p.Lys1816Arg)
|
rs2139319399
|
|
|
NM_020937.4(FANCM):c.5449G>A (p.Gly1817Arg)
|
|
|
|
NM_020937.4(FANCM):c.5452A>G (p.Thr1818Ala)
|
|
|
|
NM_020937.4(FANCM):c.5453C>T (p.Thr1818Ile)
|
|
|
|
NM_020937.4(FANCM):c.5456G>A (p.Cys1819Tyr)
|
|
|
|
NM_020937.4(FANCM):c.546C>T (p.Cys182=)
|
|
|
|
NM_020937.4(FANCM):c.5478A>C (p.Glu1826Asp)
|
rs1890053191
|
|
|
NM_020937.4(FANCM):c.548G>A (p.Ser183Asn)
|
rs961990525
|
|
|
NM_020937.4(FANCM):c.5504C>T (p.Ser1835Phe)
|
|
|
|
NM_020937.4(FANCM):c.5513G>A (p.Arg1838Lys)
|
|
|
|
NM_020937.4(FANCM):c.5532A>T (p.Gln1844His)
|
|
|
|
NM_020937.4(FANCM):c.5539G>T (p.Val1847Phe)
|
|
|
|
NM_020937.4(FANCM):c.5568C>G (p.Ile1856Met)
|
|
|
|
NM_020937.4(FANCM):c.5578C>G (p.Arg1860Gly)
|
rs139996409
|
|
|
NM_020937.4(FANCM):c.5584G>A (p.Val1862Met)
|
rs1280753248
|
|
|
NM_020937.4(FANCM):c.5598G>T (p.Arg1866Ser)
|
|
|
|
NM_020937.4(FANCM):c.5600C>T (p.Ser1867Phe)
|
|
|
|
NM_020937.4(FANCM):c.5605T>C (p.Ser1869Pro)
|
rs1890063101
|
|
|
NM_020937.4(FANCM):c.5608G>A (p.Glu1870Lys)
|
|
|
|
NM_020937.4(FANCM):c.5612T>C (p.Met1871Thr)
|
|
|
|
NM_020937.4(FANCM):c.5613G>A (p.Met1871Ile)
|
rs1890063687
|
|
|
NM_020937.4(FANCM):c.5624T>C (p.Val1875Ala)
|
|
|
|
NM_020937.4(FANCM):c.5658C>G (p.His1886Gln)
|
rs1364697360
|
|
|
NM_020937.4(FANCM):c.5667T>G (p.Ser1889Arg)
|
|
|
|
NM_020937.4(FANCM):c.5669T>C (p.Met1890Thr)
|
rs1392653043
|
|
|
NM_020937.4(FANCM):c.5672T>C (p.Phe1891Ser)
|
rs1890067683
|
|
|
NM_020937.4(FANCM):c.5679A>T (p.Arg1893Ser)
|
rs750143582
|
|
|
NM_020937.4(FANCM):c.5680A>G (p.Ile1894Val)
|
|
|
|
NM_020937.4(FANCM):c.5682A>G (p.Ile1894Met)
|
|
|
|
NM_020937.4(FANCM):c.5692G>A (p.Val1898Met)
|
|
|
|
NM_020937.4(FANCM):c.5692G>T (p.Val1898Leu)
|
|
|
|
NM_020937.4(FANCM):c.569C>G (p.Thr190Arg)
|
|
|
|
NM_020937.4(FANCM):c.5713A>G (p.Thr1905Ala)
|
|
|
|
NM_020937.4(FANCM):c.5716+5G>A
|
|
|
|
NM_020937.4(FANCM):c.5716+6T>C
|
|
|
|
NM_020937.4(FANCM):c.5729G>C (p.Arg1910Thr)
|
rs1193767487
|
|
|
NM_020937.4(FANCM):c.572C>T (p.Pro191Leu)
|
rs1555358635
|
|
|
NM_020937.4(FANCM):c.5732T>A (p.Met1911Lys)
|
rs1346827067
|
|
|
NM_020937.4(FANCM):c.5741G>A (p.Arg1914Lys)
|
rs1890202191
|
|
|
NM_020937.4(FANCM):c.5744C>A (p.Thr1915Lys)
|
rs2139328014
|
|
|
NM_020937.4(FANCM):c.5747A>G (p.Lys1916Arg)
|
rs908307807
|
|
|
NM_020937.4(FANCM):c.5750G>A (p.Ser1917Asn)
|
|
|
|
NM_020937.4(FANCM):c.5771C>T (p.Thr1924Ile)
|
|
|
|
NM_020937.4(FANCM):c.577G>T (p.Val193Phe)
|
|
|
|
NM_020937.4(FANCM):c.5783C>A (p.Ala1928Asp)
|
|
|
|
NM_020937.4(FANCM):c.5805T>A (p.Ser1935Arg)
|
rs1890206867
|
|
|
NM_020937.4(FANCM):c.5806T>A (p.Ser1936Thr)
|
|
|
|
NM_020937.4(FANCM):c.5816A>G (p.Glu1939Gly)
|
rs1890207596
|
|
|
NM_020937.4(FANCM):c.5821A>C (p.Thr1941Pro)
|
rs2139328515
|
|
|
NM_020937.4(FANCM):c.5824G>T (p.Ala1942Ser)
|
rs759078220
|
|
|
NM_020937.4(FANCM):c.5828A>G (p.Asp1943Gly)
|
|
|
|
NM_020937.4(FANCM):c.582G>A (p.Met194Ile)
|
|
|
|
NM_020937.4(FANCM):c.5839G>C (p.Glu1947Gln)
|
rs1890209507
|
|
|
NM_020937.4(FANCM):c.583G>A (p.Val195Ile)
|
|
|
|
NM_020937.4(FANCM):c.5843T>A (p.Leu1948Gln)
|
|
|
|
NM_020937.4(FANCM):c.5864A>T (p.Lys1955Met)
|
|
|
|
NM_020937.4(FANCM):c.5870T>C (p.Val1957Ala)
|
rs1890211851
|
|
|
NM_020937.4(FANCM):c.5872G>T (p.Gly1958Cys)
|
rs1441113303
|
|
|
NM_020937.4(FANCM):c.5875A>G (p.Ile1959Val)
|
|
|
|
NM_020937.4(FANCM):c.5879A>G (p.His1960Arg)
|
|
|
|
NM_020937.4(FANCM):c.5888C>A (p.Thr1963Lys)
|
|
|
|
NM_020937.4(FANCM):c.5890GTG[1] (p.Val1965del)
|
rs769106934
|
|
|
NM_020937.4(FANCM):c.5901TAA[1] (p.Asn1968del)
|
rs1890214050
|
|
|
NM_020937.4(FANCM):c.5903A>G (p.Asn1968Ser)
|
|
|
|
NM_020937.4(FANCM):c.5910T>G (p.Ser1970Arg)
|
rs2139329050
|
|
|
NM_020937.4(FANCM):c.5914G>A (p.Ala1972Thr)
|
rs2139329078
|
|
|
NM_020937.4(FANCM):c.5927A>G (p.Tyr1976Cys)
|
rs1594486279
|
|
|
NM_020937.4(FANCM):c.5965A>C (p.Asn1989His)
|
|
|
|
NM_020937.4(FANCM):c.5989G>C (p.Val1997Leu)
|
rs1890218222
|
|
|
NM_020937.4(FANCM):c.5997G>C (p.Arg1999Ser)
|
rs1890218564
|
|
|
NM_020937.4(FANCM):c.6008+1G>A
|
rs984955481
|
|
|
NM_020937.4(FANCM):c.6008+4T>C
|
|
|
|
NM_020937.4(FANCM):c.6010T>A (p.Ser2004Thr)
|
rs760258217
|
|
|
NM_020937.4(FANCM):c.6010T>C (p.Ser2004Pro)
|
|
|
|
NM_020937.4(FANCM):c.6016C>A (p.Gln2006Lys)
|
|
|
|
NM_020937.4(FANCM):c.6019G>A (p.Glu2007Lys)
|
rs1890266228
|
|
|
NM_020937.4(FANCM):c.6026C>A (p.Ser2009Tyr)
|
|
|
|
NM_020937.4(FANCM):c.6028A>G (p.Met2010Val)
|
rs776577985
|
|
|
NM_020937.4(FANCM):c.6030G>A (p.Met2010Ile)
|
rs1890267290
|
|
|
NM_020937.4(FANCM):c.6038A>G (p.Gln2013Arg)
|
|
|
|
NM_020937.4(FANCM):c.6055G>C (p.Ala2019Pro)
|
rs1890268255
|
|
|
NM_020937.4(FANCM):c.6058GAG[1] (p.Glu2021del)
|
rs770012987
|
|
|
NM_020937.4(FANCM):c.605C>T (p.Ala202Val)
|
rs1885579524
|
|
|
NM_020937.4(FANCM):c.6061G>A (p.Glu2021Lys)
|
|
|
|
NM_020937.4(FANCM):c.6065T>G (p.Ile2022Ser)
|
rs2139331987
|
|
|
NM_020937.4(FANCM):c.6066C>G (p.Ile2022Met)
|
rs2139331995
|
|
|
NM_020937.4(FANCM):c.6071_6076del (p.Arg2024_Tyr2025del)
|
rs773456844
|
|
|
NM_020937.4(FANCM):c.6075T>A (p.Tyr2025Ter)
|
|
|
|
NM_020937.4(FANCM):c.6075T>G (p.Tyr2025Ter)
|
|
|
|
NM_020937.4(FANCM):c.6092A>G (p.Asp2031Gly)
|
|
|
|
NM_020937.4(FANCM):c.6095T>A (p.Ile2032Lys)
|
|
|
|
NM_020937.4(FANCM):c.6102G>A (p.Met2034Ile)
|
rs1890272153
|
|
|
NM_020937.4(FANCM):c.6122_6125del (p.Gln2041fs)
|
|
|
|
NM_020937.4(FANCM):c.6137C>A (p.Ser2046Tyr)
|
|
|
|
NM_020937.4(FANCM):c.6140_*8del (p.Asp2047fs)
|
rs1594488249
|
|
|
NM_020937.4(FANCM):c.6143del (p.Ile2048fs)
|
|
|
|
NM_020937.4(FANCM):c.620A>T (p.Glu207Val)
|
rs1885580819
|
|
|
NM_020937.4(FANCM):c.625A>C (p.Lys209Gln)
|
rs1555358657
|
|
|
NM_020937.4(FANCM):c.632T>C (p.Leu211Ser)
|
rs2139107015
|
|
|
NM_020937.4(FANCM):c.642T>A (p.Asp214Glu)
|
rs1885582744
|
|
|
NM_020937.4(FANCM):c.645A>T (p.Glu215Asp)
|
rs1215370736
|
|
|
NM_020937.4(FANCM):c.656C>T (p.Ala219Val)
|
rs1566718197
|
|
|
NM_020937.4(FANCM):c.661G>A (p.Gly221Arg)
|
|
|
|
NM_020937.4(FANCM):c.668A>G (p.Tyr223Cys)
|
rs1594751903
|
|
|
NM_020937.4(FANCM):c.682-5T>G
|
|
|
|
NM_020937.4(FANCM):c.684T>G (p.Val228=)
|
rs1885848310
|
|
|
NM_020937.4(FANCM):c.695T>A (p.Leu232Gln)
|
rs2139118252
|
|
|
NM_020937.4(FANCM):c.698T>C (p.Val233Ala)
|
rs1885849616
|
|
|
NM_020937.4(FANCM):c.70G>C (p.Gly24Arg)
|
|
|
|
NM_020937.4(FANCM):c.710A>G (p.Asn237Ser)
|
rs760977059
|
|
|
NM_020937.4(FANCM):c.717T>G (p.Phe239Leu)
|
rs1365220972
|
|
|
NM_020937.4(FANCM):c.71G>T (p.Gly24Val)
|
rs1885468827
|
|
|
NM_020937.4(FANCM):c.730C>G (p.Leu244Val)
|
rs376357342
|
|
|
NM_020937.4(FANCM):c.734G>A (p.Ser245Asn)
|
|
|
|
NM_020937.4(FANCM):c.736G>A (p.Ala246Thr)
|
rs2139118418
|
|
|
NM_020937.4(FANCM):c.746G>C (p.Gly249Ala)
|
rs965199350
|
|
|
NM_020937.4(FANCM):c.748A>G (p.Ser250Gly)
|
rs2139118486
|
|
|
NM_020937.4(FANCM):c.759+2dup
|
rs1885856344
|
|
|
NM_020937.4(FANCM):c.760-4A>G
|
rs1886615518
|
|
|
NM_020937.4(FANCM):c.760-6A>G
|
rs2139151266
|
|
|
NM_020937.4(FANCM):c.760G>A (p.Ala254Thr)
|
|
|
|
NM_020937.4(FANCM):c.760G>T (p.Ala254Ser)
|
|
|
|
NM_020937.4(FANCM):c.778A>G (p.Thr260Ala)
|
rs1886617707
|
|
|
NM_020937.4(FANCM):c.787C>A (p.Leu263Ile)
|
rs1594766754
|
|
|
NM_020937.4(FANCM):c.790A>G (p.Ile264Val)
|
|
|
|
NM_020937.4(FANCM):c.799A>G (p.Ile267Val)
|
|
|
|
NM_020937.4(FANCM):c.80C>T (p.Ser27Phe)
|
rs1885469771
|
|
|
NM_020937.4(FANCM):c.815A>T (p.Glu272Val)
|
rs1456725108
|
|
|
NM_020937.4(FANCM):c.818A>T (p.Asp273Val)
|
|
|
|
NM_020937.4(FANCM):c.821C>A (p.Ser274Tyr)
|
|
|
|
NM_020937.4(FANCM):c.830T>C (p.Ile277Thr)
|
|
|
|
NM_020937.4(FANCM):c.836C>T (p.Thr279Ile)
|
rs556857964
|
|
|
NM_020937.4(FANCM):c.83G>T (p.Gly28Val)
|
rs1885470299
|
|
|
NM_020937.4(FANCM):c.844C>T (p.His282Tyr)
|
rs955969135
|
|
|
NM_020937.4(FANCM):c.845A>C (p.His282Pro)
|
|
|
|
NM_020937.4(FANCM):c.851G>A (p.Arg284Lys)
|
rs1886623846
|
|
|
NM_020937.4(FANCM):c.853A>G (p.Lys285Glu)
|
rs1428587779
|
|
|
NM_020937.4(FANCM):c.865C>G (p.Leu289Val)
|
rs1594766833
|
|
|
NM_020937.4(FANCM):c.866T>C (p.Leu289Pro)
|
rs1594766838
|
|
|
NM_020937.4(FANCM):c.871G>A (p.Val291Ile)
|
rs1566732276
|
|
|
NM_020937.4(FANCM):c.874C>A (p.Pro292Thr)
|
rs142747831
|
|
|
NM_020937.4(FANCM):c.877C>T (p.Leu293Phe)
|
rs1886627288
|
|
|
NM_020937.4(FANCM):c.893C>T (p.Ala298Val)
|
rs1316547284
|
|
|
NM_020937.4(FANCM):c.908C>A (p.Thr303Asn)
|
rs980293400
|
|
|
NM_020937.4(FANCM):c.920T>C (p.Ile307Thr)
|
rs2139159942
|
|
|
NM_020937.4(FANCM):c.937C>T (p.Arg313Cys)
|
rs372710600
|
|
|
NM_020937.4(FANCM):c.938G>T (p.Arg313Leu)
|
rs767487612
|
|
|
NM_020937.4(FANCM):c.941C>G (p.Ser314Cys)
|
rs774801698
|
|
|
NM_020937.4(FANCM):c.956A>G (p.Asn319Ser)
|
|
|
|
NM_020937.4(FANCM):c.958G>A (p.Val320Ile)
|
|
|
|
NM_020937.4(FANCM):c.95C>T (p.Pro32Leu)
|
|
|
|
NM_020937.4(FANCM):c.964A>T (p.Met322Leu)
|
rs1886810282
|
|
|
NM_020937.4(FANCM):c.971G>C (p.Arg324Thr)
|
rs2139160191
|
|
|
NM_020937.4(FANCM):c.972G>C (p.Arg324Ser)
|
rs1886810472
|
|
|
NM_020937.4(FANCM):c.989C>T (p.Thr330Ile)
|
rs759774206
|
|
|
NM_020937.4(FANCM):c.98A>C (p.Gln33Pro)
|
|
|
|
NM_020937.4(FANCM):c.991A>G (p.Lys331Glu)
|
|
|
|
NM_020937.4(FANCM):c.998A>G (p.Gln333Arg)
|
rs922819033
|
|
|
NM_021922.3(FANCE):c.-2_13del (p.Met1_Asp5del)
|
rs2150885287
|
|
|
NM_021922.3(FANCE):c.1014C>A (p.Asp338Glu)
|
|
|
|
NM_021922.3(FANCE):c.1018G>A (p.Gly340Ser)
|
|
|
|
NM_021922.3(FANCE):c.1031T>A (p.Leu344His)
|
rs2150894790
|
|
|
NM_021922.3(FANCE):c.1036A>C (p.Thr346Pro)
|
rs1767436675
|
|
|
NM_021922.3(FANCE):c.1043T>C (p.Leu348Pro)
|
|
|
|
NM_021922.3(FANCE):c.1049C>A (p.Ala350Asp)
|
|
|
|
NM_021922.3(FANCE):c.1051C>G (p.Leu351Val)
|
|
|
|
NM_021922.3(FANCE):c.1057C>G (p.Pro353Ala)
|
rs878855070
|
|
|
NM_021922.3(FANCE):c.1058C>T (p.Pro353Leu)
|
rs587778339
|
|
|
NM_021922.3(FANCE):c.1076A>G (p.Asn359Ser)
|
|
|
|
NM_021922.3(FANCE):c.1113+6T>C
|
rs764119752
|
|
|
NM_021922.3(FANCE):c.1114-3T>C
|
|
|
|
NM_021922.3(FANCE):c.1120T>C (p.Ser374Pro)
|
rs113175592
|
|
|
NM_021922.3(FANCE):c.1136C>G (p.Ala379Gly)
|
rs1233194875
|
|
|
NM_021922.3(FANCE):c.1139C>T (p.Ser380Phe)
|
|
|
|
NM_021922.3(FANCE):c.1141C>G (p.Arg381Gly)
|
|
|
|
NM_021922.3(FANCE):c.1145T>C (p.Leu382Pro)
|
rs2150896332
|
|
|
NM_021922.3(FANCE):c.1189C>G (p.Pro397Ala)
|
rs759782690
|
|
|
NM_021922.3(FANCE):c.118G>C (p.Ala40Pro)
|
rs2150885696
|
|
|
NM_021922.3(FANCE):c.1195T>G (p.Cys399Gly)
|
|
|
|
NM_021922.3(FANCE):c.1204C>T (p.Leu402Phe)
|
rs1256696675
|
|
|
NM_021922.3(FANCE):c.121C>T (p.Arg41Trp)
|
rs1767153896
|
|
|
NM_021922.3(FANCE):c.1232G>A (p.Gly411Asp)
|
rs1767499219
|
|
|
NM_021922.3(FANCE):c.1237G>A (p.Gly413Ser)
|
rs757769907
|
|
|
NM_021922.3(FANCE):c.1254G>C (p.Glu418Asp)
|
|
|
|
NM_021922.3(FANCE):c.1260_1268del (p.Cys421_Leu423del)
|
rs2150897160
|
|
|
NM_021922.3(FANCE):c.1262G>A (p.Cys421Tyr)
|
rs936988373
|
|
|
NM_021922.3(FANCE):c.1270G>T (p.Val424Leu)
|
rs2150897194
|
|
|
NM_021922.3(FANCE):c.1276A>G (p.Met426Val)
|
rs764652720
|
|
|
NM_021922.3(FANCE):c.127G>A (p.Gly43Ser)
|
rs892819655
|
|
|
NM_021922.3(FANCE):c.1283C>G (p.Ser428Cys)
|
|
|
|
NM_021922.3(FANCE):c.128G>T (p.Gly43Val)
|
rs1767154137
|
|
|
NM_021922.3(FANCE):c.1297G>A (p.Ala433Thr)
|
|
|
|
NM_021922.3(FANCE):c.1313T>G (p.Leu438Arg)
|
rs2150897316
|
|
|
NM_021922.3(FANCE):c.1319A>G (p.Gln440Arg)
|
|
|
|
NM_021922.3(FANCE):c.1336T>C (p.Trp446Arg)
|
rs1554122137
|
|
|
NM_021922.3(FANCE):c.1343A>C (p.Glu448Ala)
|
rs2150898436
|
|
|
NM_021922.3(FANCE):c.134G>A (p.Gly45Glu)
|
|
|
|
NM_021922.3(FANCE):c.134G>T (p.Gly45Val)
|
|
|
|
NM_021922.3(FANCE):c.1353C>G (p.Phe451Leu)
|
|
|
|
NM_021922.3(FANCE):c.1357G>T (p.Val453Leu)
|
|
|
|
NM_021922.3(FANCE):c.1372C>G (p.Leu458Val)
|
|
|
|
NM_021922.3(FANCE):c.1378C>T (p.Arg460Trp)
|
rs200535245
|
|
|
NM_021922.3(FANCE):c.1379G>A (p.Arg460Gln)
|
|
|
|
NM_021922.3(FANCE):c.1379G>T (p.Arg460Leu)
|
rs541746126
|
|
|
NM_021922.3(FANCE):c.1383+6C>G
|
rs763606597
|
|
|
NM_021922.3(FANCE):c.1390A>G (p.Met464Val)
|
|
|
|
NM_021922.3(FANCE):c.1392G>T (p.Met464Ile)
|
rs759978029
|
|
|
NM_021922.3(FANCE):c.139C>T (p.Leu47Phe)
|
|
|
|
NM_021922.3(FANCE):c.1404G>T (p.Lys468Asn)
|
|
|
|
NM_021922.3(FANCE):c.1432A>G (p.Lys478Glu)
|
rs1242729665
|
|
|
NM_021922.3(FANCE):c.1459A>G (p.Met487Val)
|
rs373735272
|
|
|
NM_021922.3(FANCE):c.1466A>T (p.Tyr489Phe)
|
rs1345207143
|
|
|
NM_021922.3(FANCE):c.1478T>C (p.Met493Thr)
|
rs979790377
|
|
|
NM_021922.3(FANCE):c.1484C>T (p.Thr495Ile)
|
rs1442055811
|
|
|
NM_021922.3(FANCE):c.1486G>A (p.Val496Met)
|
rs2150901627
|
|
|
NM_021922.3(FANCE):c.1497G>C (p.Lys499Asn)
|
rs2150901647
|
|
|
NM_021922.3(FANCE):c.149T>C (p.Leu50Pro)
|
rs1767156443
|
|
|
NM_021922.3(FANCE):c.14A>T (p.Asp5Val)
|
rs1767146702
|
|
|
NM_021922.3(FANCE):c.1501C>T (p.Gln501Ter)
|
rs746321808
|
|
|
NM_021922.3(FANCE):c.1507A>T (p.Asn503Tyr)
|
rs2150901658
|
|
|
NM_021922.3(FANCE):c.1509+3G>A
|
rs773938335
|
|
|
NM_021922.3(FANCE):c.1519A>G (p.Thr507Ala)
|
|
|
|
NM_021922.3(FANCE):c.1528C>G (p.Leu510Val)
|
|
|
|
NM_021922.3(FANCE):c.1531G>T (p.Gly511Cys)
|
|
|
|
NM_021922.3(FANCE):c.1556A>C (p.Asn519Thr)
|
rs373712711
|
|
|
NM_021922.3(FANCE):c.157C>T (p.Arg53Cys)
|
|
|
|
NM_021922.3(FANCE):c.1582A>C (p.Lys528Gln)
|
rs767896075
|
|
|
NM_021922.3(FANCE):c.1594A>T (p.Lys532Ter)
|
|
|
|
NM_021922.3(FANCE):c.1598A>T (p.His533Leu)
|
|
|
|
NM_021922.3(FANCE):c.15_16delinsAC (p.Asp5_Ala6delinsGluPro)
|
|
|
|
NM_021922.3(FANCE):c.1606C>G (p.Pro536Ala)
|
rs1060501873
|
|
|
NM_021922.3(FANCE):c.1607C>G (p.Pro536Arg)
|
rs1767835596
|
|
|
NM_021922.3(FANCE):c.1608_1609del (p.Ter537ThrextTer?)
|
rs1767835895
|
|
|
NM_021922.3(FANCE):c.169C>A (p.Pro57Thr)
|
rs1561787173
|
|
|
NM_021922.3(FANCE):c.169C>T (p.Pro57Ser)
|
rs1561787173
|
|
|
NM_021922.3(FANCE):c.175G>T (p.Asp59Tyr)
|
rs1581696567
|
|
|
NM_021922.3(FANCE):c.181G>C (p.Gly61Arg)
|
rs2150885964
|
|
|
NM_021922.3(FANCE):c.189G>T (p.Leu63Phe)
|
rs2150885989
|
|
|
NM_021922.3(FANCE):c.200T>C (p.Leu67Pro)
|
rs1767159493
|
|
|
NM_021922.3(FANCE):c.221T>C (p.Val74Ala)
|
|
|
|
NM_021922.3(FANCE):c.224A>C (p.Gln75Pro)
|
rs1309426375
|
|
|
NM_021922.3(FANCE):c.229C>T (p.Pro77Ser)
|
rs587778335
|
|
|
NM_021922.3(FANCE):c.22C>T (p.Leu8Phe)
|
|
|
|
NM_021922.3(FANCE):c.239G>A (p.Arg80His)
|
rs1243363612
|
|
|
NM_021922.3(FANCE):c.248T>C (p.Leu83Pro)
|
rs1767163490
|
|
|
NM_021922.3(FANCE):c.249G>T (p.Leu83=)
|
|
|
|
NM_021922.3(FANCE):c.256C>G (p.Leu86Val)
|
|
|
|
NM_021922.3(FANCE):c.257T>C (p.Leu86Pro)
|
|
|
|
NM_021922.3(FANCE):c.25C>A (p.Pro9Thr)
|
rs956659254
|
|
|
NM_021922.3(FANCE):c.25C>T (p.Pro9Ser)
|
|
|
|
NM_021922.3(FANCE):c.266G>A (p.Arg89Gln)
|
rs45600543
|
|
|
NM_021922.3(FANCE):c.266G>C (p.Arg89Pro)
|
rs45600543
|
|
|
NM_021922.3(FANCE):c.277A>T (p.Ile93Leu)
|
rs1767301656
|
|
|
NM_021922.3(FANCE):c.29G>A (p.Gly10Glu)
|
|
|
|
NM_021922.3(FANCE):c.2T>C (p.Met1Thr)
|
rs1462766132
|
|
|
NM_021922.3(FANCE):c.313G>A (p.Val105Ile)
|
rs373159305
|
|
|
NM_021922.3(FANCE):c.313G>C (p.Val105Leu)
|
rs373159305
|
|
|
NM_021922.3(FANCE):c.36G>T (p.Glu12Asp)
|
|
|
|
NM_021922.3(FANCE):c.371A>G (p.Asp124Gly)
|
|
|
|
NM_021922.3(FANCE):c.379C>G (p.Pro127Ala)
|
|
|
|
NM_021922.3(FANCE):c.387_388delinsCC (p.Asp130His)
|
rs2150890289
|
|
|
NM_021922.3(FANCE):c.398T>C (p.Leu133Pro)
|
|
|
|
NM_021922.3(FANCE):c.413A>G (p.Glu138Gly)
|
|
|
|
NM_021922.3(FANCE):c.422G>A (p.Arg141Gln)
|
|
|
|
NM_021922.3(FANCE):c.440G>A (p.Gly147Glu)
|
rs1220564322
|
|
|
NM_021922.3(FANCE):c.448A>G (p.Met150Val)
|
rs1489457999
|
|
|
NM_021922.3(FANCE):c.461C>T (p.Ser154Phe)
|
rs1016962570
|
|
|
NM_021922.3(FANCE):c.463C>G (p.Pro155Ala)
|
rs2150890589
|
|
|
NM_021922.3(FANCE):c.463C>T (p.Pro155Ser)
|
rs2150890589
|
|
|
NM_021922.3(FANCE):c.487C>A (p.Gln163Lys)
|
rs1767316578
|
|
|
NM_021922.3(FANCE):c.4G>C (p.Ala2Pro)
|
rs886061327
|
|
|
NM_021922.3(FANCE):c.521G>T (p.Gly174Val)
|
rs1014679374
|
|
|
NM_021922.3(FANCE):c.539C>G (p.Ser180Cys)
|
|
|
|
NM_021922.3(FANCE):c.541C>T (p.Pro181Ser)
|
|
|
|
NM_021922.3(FANCE):c.542C>T (p.Pro181Leu)
|
rs1767323169
|
|
|
NM_021922.3(FANCE):c.590C>T (p.Pro197Leu)
|
rs2150891086
|
|
|
NM_021922.3(FANCE):c.59C>A (p.Ala20Glu)
|
|
|
|
NM_021922.3(FANCE):c.5C>T (p.Ala2Val)
|
|
|
|
NM_021922.3(FANCE):c.619G>A (p.Glu207Lys)
|
|
|
|
NM_021922.3(FANCE):c.677A>C (p.Glu226Ala)
|
rs2150891378
|
|
|
NM_021922.3(FANCE):c.679G>A (p.Glu227Lys)
|
rs1287242303
|
|
|
NM_021922.3(FANCE):c.691_693del (p.Lys231del)
|
rs1767333988
|
|
|
NM_021922.3(FANCE):c.698G>A (p.Arg233Lys)
|
|
|
|
NM_021922.3(FANCE):c.703G>A (p.Glu235Lys)
|
|
|
|
NM_021922.3(FANCE):c.71C>A (p.Ala24Asp)
|
rs1045892220
|
|
|
NM_021922.3(FANCE):c.722C>T (p.Ser241Phe)
|
rs933204286
|
|
|
NM_021922.3(FANCE):c.740G>A (p.Ser247Asn)
|
rs1767336620
|
|
|
NM_021922.3(FANCE):c.742G>A (p.Ala248Thr)
|
rs1330517530
|
|
|
NM_021922.3(FANCE):c.743C>T (p.Ala248Val)
|
rs1767337048
|
|
|
NM_021922.3(FANCE):c.746C>T (p.Ser249Phe)
|
rs1036490024
|
|
|
NM_021922.3(FANCE):c.74C>T (p.Pro25Leu)
|
|
|
|
NM_021922.3(FANCE):c.751A>G (p.Ile251Val)
|
|
|
|
NM_021922.3(FANCE):c.75_98del (p.Ala26_Leu33del)
|
|
|
|
NM_021922.3(FANCE):c.789G>C (p.Glu263Asp)
|
|
|
|
NM_021922.3(FANCE):c.797C>T (p.Ser266Leu)
|
|
|
|
NM_021922.3(FANCE):c.812C>T (p.Ala271Val)
|
rs1060501874
|
|
|
NM_021922.3(FANCE):c.818G>T (p.Gly273Val)
|
rs1468356265
|
|
|
NM_021922.3(FANCE):c.823G>A (p.Ala275Thr)
|
|
|
|
NM_021922.3(FANCE):c.855+4C>G
|
|
|
|
NM_021922.3(FANCE):c.875A>G (p.Gln292Arg)
|
rs1767398617
|
|
|
NM_021922.3(FANCE):c.878A>G (p.Gln293Arg)
|
|
|
|
NM_021922.3(FANCE):c.88CTGCAGGCG[1] (p.30LQA[1])
|
rs780106496
|
|
|
NM_021922.3(FANCE):c.88CTGCAGGCG[3] (p.Ala35_Gly36insLeuGlnAla)
|
|
|
|
NM_021922.3(FANCE):c.892T>A (p.Leu298Met)
|
|
|
|
NM_021922.3(FANCE):c.907G>C (p.Glu303Gln)
|
rs1470052853
|
|
|
NM_021922.3(FANCE):c.928C>G (p.Pro310Ala)
|
|
|
|
NM_021922.3(FANCE):c.928C>T (p.Pro310Ser)
|
rs372788363
|
|
|
NM_021922.3(FANCE):c.929C>A (p.Pro310Gln)
|
rs139600847
|
|
|
NM_021922.3(FANCE):c.929C>G (p.Pro310Arg)
|
rs139600847
|
|
|
NM_021922.3(FANCE):c.929C>T (p.Pro310Leu)
|
rs139600847
|
|
|
NM_021922.3(FANCE):c.956G>A (p.Cys319Tyr)
|
rs1440691539
|
|
|
NM_021922.3(FANCE):c.959G>A (p.Ser320Asn)
|
rs1767417019
|
|
|
NM_021922.3(FANCE):c.95C>A (p.Ala32Glu)
|
rs924383249
|
|
|
NM_021922.3(FANCE):c.968A>G (p.Gln323Arg)
|
rs1034716031
|
|
|
NM_021922.3(FANCE):c.970-6A>G
|
|
|
|
NM_021922.3(FANCE):c.970-6A>T
|
rs1206121566
|
|
|
NM_021922.3(FANCE):c.983G>T (p.Cys328Phe)
|
|
|
|
NM_021922.3(FANCE):c.985G>A (p.Ala329Thr)
|
|
|
|
NM_021922.3(FANCE):c.988C>G (p.Gln330Glu)
|
rs1263409404
|
|
|
NM_021922.3(FANCE):c.991C>G (p.Leu331Val)
|
rs45468994
|
|
|
NM_021922.3(FANCE):c.992T>C (p.Leu331Pro)
|
|
|
|
NM_021922.3(FANCE):c.997C>T (p.Leu333Phe)
|
rs2150894670
|
|
|
NM_022725.4(FANCF):c.1001C>T (p.Ala334Val)
|
rs772941983
|
|
|
NM_022725.4(FANCF):c.1007A>G (p.Asp336Gly)
|
rs2133796304
|
|
|
NM_022725.4(FANCF):c.1025C>T (p.Pro342Leu)
|
|
|
|
NM_022725.4(FANCF):c.1041G>A (p.Trp347Ter)
|
rs587778343
|
|
|
NM_022725.4(FANCF):c.1048C>A (p.Leu350Ile)
|
|
|
|
NM_022725.4(FANCF):c.104T>G (p.Leu35Trp)
|
rs2133798660
|
|
|
NM_022725.4(FANCF):c.1064G>A (p.Arg355His)
|
rs758175326
|
|
|
NM_022725.4(FANCF):c.1082A>G (p.Lys361Arg)
|
rs2133796173
|
|
|
NM_022725.4(FANCF):c.1089A>C (p.Gln363His)
|
rs1858613638
|
|
|
NM_022725.4(FANCF):c.10C>T (p.Leu4Phe)
|
|
|
|
NM_022725.4(FANCF):c.1123T>C (p.Ter375Gln)
|
|
|
|
NM_022725.4(FANCF):c.115C>T (p.Arg39Cys)
|
|
|
|
NM_022725.4(FANCF):c.119A>G (p.Tyr40Cys)
|
rs1359473267
|
|
|
NM_022725.4(FANCF):c.130A>T (p.Ile44Phe)
|
|
|
|
NM_022725.4(FANCF):c.136C>G (p.Arg46Gly)
|
rs758925111
|
|
|
NM_022725.4(FANCF):c.137G>A (p.Arg46Gln)
|
|
|
|
NM_022725.4(FANCF):c.139C>T (p.Arg47Cys)
|
|
|
|
NM_022725.4(FANCF):c.140_141delinsTT (p.Arg47Leu)
|
|
|
|
NM_022725.4(FANCF):c.160A>G (p.Ile54Val)
|
rs2133798534
|
|
|
NM_022725.4(FANCF):c.164G>A (p.Arg55His)
|
|
|
|
NM_022725.4(FANCF):c.175G>C (p.Glu59Gln)
|
|
|
|
NM_022725.4(FANCF):c.191A>G (p.Asn64Ser)
|
rs756433846
|
|
|
NM_022725.4(FANCF):c.192C>A (p.Asn64Lys)
|
rs1413335884
|
|
|
NM_022725.4(FANCF):c.194A>C (p.Gln65Pro)
|
|
|
|
NM_022725.4(FANCF):c.211G>A (p.Gly71Ser)
|
rs1590542146
|
|
|
NM_022725.4(FANCF):c.214T>G (p.Phe72Val)
|
|
|
|
NM_022725.4(FANCF):c.221G>A (p.Arg74Gln)
|
rs1858634295
|
|
|
NM_022725.4(FANCF):c.223G>T (p.Gly75Cys)
|
rs958516903
|
|
|
NM_022725.4(FANCF):c.244A>G (p.Asn82Asp)
|
|
|
|
NM_022725.4(FANCF):c.253G>A (p.Ala85Thr)
|
|
|
|
NM_022725.4(FANCF):c.260G>T (p.Gly87Val)
|
|
|
|
NM_022725.4(FANCF):c.269A>G (p.Asp90Gly)
|
rs746415789
|
|
|
NM_022725.4(FANCF):c.281C>G (p.Ser94Cys)
|
|
|
|
NM_022725.4(FANCF):c.301C>G (p.Arg101Gly)
|
rs760571335
|
|
|
NM_022725.4(FANCF):c.318_319delinsCC (p.Ala107Pro)
|
rs1565055434
|
|
|
NM_022725.4(FANCF):c.322C>T (p.Arg108Cys)
|
rs200995539
|
|
|
NM_022725.4(FANCF):c.325T>C (p.Tyr109His)
|
rs2133798077
|
|
|
NM_022725.4(FANCF):c.349C>T (p.Pro117Ser)
|
rs372625322
|
|
|
NM_022725.4(FANCF):c.352G>A (p.Gly118Ser)
|
|
|
|
NM_022725.4(FANCF):c.352G>T (p.Gly118Cys)
|
rs1060501871
|
|
|
NM_022725.4(FANCF):c.364C>T (p.Arg122Trp)
|
|
|
|
NM_022725.4(FANCF):c.365G>C (p.Arg122Pro)
|
|
|
|
NM_022725.4(FANCF):c.370G>T (p.Ala124Ser)
|
rs201357673
|
|
|
NM_022725.4(FANCF):c.385C>A (p.Leu129Ile)
|
|
|
|
NM_022725.4(FANCF):c.388C>A (p.Gln130Lys)
|
|
|
|
NM_022725.4(FANCF):c.388C>G (p.Gln130Glu)
|
|
|
|
NM_022725.4(FANCF):c.391G>A (p.Glu131Lys)
|
|
|
|
NM_022725.4(FANCF):c.407_415dup (p.Arg138_Arg139insLeuAlaArg)
|
|
|
|
NM_022725.4(FANCF):c.419G>A (p.Arg140Gln)
|
rs868692458
|
|
|
NM_022725.4(FANCF):c.433A>G (p.Met145Val)
|
rs766160698
|
|
|
NM_022725.4(FANCF):c.434T>G (p.Met145Arg)
|
|
|
|
NM_022725.4(FANCF):c.445A>G (p.Asn149Asp)
|
|
|
|
NM_022725.4(FANCF):c.447T>C (p.Asn149=)
|
|
|
|
NM_022725.4(FANCF):c.448G>C (p.Gly150Arg)
|
|
|
|
NM_022725.4(FANCF):c.449G>A (p.Gly150Asp)
|
|
|
|
NM_022725.4(FANCF):c.451T>A (p.Tyr151Asn)
|
rs984455929
|
|
|
NM_022725.4(FANCF):c.457G>A (p.Glu153Lys)
|
rs748768759
|
|
|
NM_022725.4(FANCF):c.462C>A (p.Asn154Lys)
|
|
|
|
NM_022725.4(FANCF):c.473A>G (p.Gln158Arg)
|
|
|
|
NM_022725.4(FANCF):c.477G>A (p.Glu159=)
|
|
|
|
NM_022725.4(FANCF):c.482C>G (p.Ser161Cys)
|
|
|
|
NM_022725.4(FANCF):c.484C>G (p.Leu162Val)
|
rs2133797641
|
|
|
NM_022725.4(FANCF):c.489G>C (p.Met163Ile)
|
rs1590541541
|
|
|
NM_022725.4(FANCF):c.494C>T (p.Thr165Ile)
|
|
|
|
NM_022725.4(FANCF):c.49G>A (p.Val17Ile)
|
|
|
|
NM_022725.4(FANCF):c.49G>T (p.Val17Phe)
|
rs758897077
|
|
|
NM_022725.4(FANCF):c.504_505delinsAT (p.Glu168_Leu169=)
|
|
|
|
NM_022725.4(FANCF):c.506T>A (p.Leu169Gln)
|
|
|
|
NM_022725.4(FANCF):c.50T>C (p.Val17Ala)
|
|
|
|
NM_022725.4(FANCF):c.533G>A (p.Gly178Glu)
|
|
|
|
NM_022725.4(FANCF):c.537G>C (p.Lys179Asn)
|
|
|
|
NM_022725.4(FANCF):c.544G>A (p.Ala182Thr)
|
rs1858626528
|
|
|
NM_022725.4(FANCF):c.547G>A (p.Glu183Lys)
|
rs774728053
|
|
|
NM_022725.4(FANCF):c.547G>C (p.Glu183Gln)
|
rs774728053
|
|
|
NM_022725.4(FANCF):c.54A>G (p.Ser18=)
|
|
|
|
NM_022725.4(FANCF):c.551G>C (p.Arg184Pro)
|
|
|
|
NM_022725.4(FANCF):c.552_554inv (p.Pro185Asp)
|
|
|
|
NM_022725.4(FANCF):c.553C>T (p.Pro185Ser)
|
|
|
|
NM_022725.4(FANCF):c.583C>T (p.Arg195Cys)
|
rs1231820160
|
|
|
NM_022725.4(FANCF):c.606G>T (p.Leu202=)
|
|
|
|
NM_022725.4(FANCF):c.614T>C (p.Ile205Thr)
|
rs764300983
|
|
|
NM_022725.4(FANCF):c.623C>A (p.Ala208Glu)
|
|
|
|
NM_022725.4(FANCF):c.623C>T (p.Ala208Val)
|
|
|
|
NM_022725.4(FANCF):c.626T>C (p.Leu209Pro)
|
rs1554963662
|
|
|
NM_022725.4(FANCF):c.628T>C (p.Leu210=)
|
|
|
|
NM_022725.4(FANCF):c.62C>G (p.Thr21Ser)
|
rs765672591
|
|
|
NM_022725.4(FANCF):c.635C>A (p.Pro212Gln)
|
rs1590541259
|
|
|
NM_022725.4(FANCF):c.656A>G (p.Gln219Arg)
|
rs1230568893
|
|
|
NM_022725.4(FANCF):c.65A>G (p.Tyr22Cys)
|
rs1590542501
|
|
|
NM_022725.4(FANCF):c.668A>C (p.Glu223Ala)
|
|
|
|
NM_022725.4(FANCF):c.670C>A (p.Pro224Thr)
|
rs767765820
|
|
|
NM_022725.4(FANCF):c.683A>C (p.Lys228Thr)
|
|
|
|
NM_022725.4(FANCF):c.683A>G (p.Lys228Arg)
|
rs766802308
|
|
|
NM_022725.4(FANCF):c.688C>T (p.Pro230Ser)
|
rs773724648
|
|
|
NM_022725.4(FANCF):c.689C>G (p.Pro230Arg)
|
rs762305649
|
|
|
NM_022725.4(FANCF):c.692G>A (p.Gly231Glu)
|
rs1858622610
|
|
|
NM_022725.4(FANCF):c.696G>T (p.Glu232Asp)
|
rs1590541131
|
|
|
NM_022725.4(FANCF):c.70A>G (p.Ser24Gly)
|
rs1858638724
|
|
|
NM_022725.4(FANCF):c.760G>A (p.Ala254Thr)
|
|
|
|
NM_022725.4(FANCF):c.763C>G (p.Leu255Val)
|
|
|
|
NM_022725.4(FANCF):c.769G>A (p.Ala257Thr)
|
|
|
|
NM_022725.4(FANCF):c.78G>C (p.Trp26Cys)
|
rs764519472
|
|
|
NM_022725.4(FANCF):c.790A>T (p.Thr264Ser)
|
rs1663559839
|
|
|
NM_022725.4(FANCF):c.795C>A (p.Ser265Arg)
|
rs758796858
|
|
|
NM_022725.4(FANCF):c.799C>T (p.His267Tyr)
|
|
|
|
NM_022725.4(FANCF):c.801C>A (p.His267Gln)
|
rs762356967
|
|
|
NM_022725.4(FANCF):c.80A>C (p.Asp27Ala)
|
|
|
|
NM_022725.4(FANCF):c.814C>T (p.Pro272Ser)
|
|
|
|
NM_022725.4(FANCF):c.817G>C (p.Val273Leu)
|
rs1858619819
|
|
|
NM_022725.4(FANCF):c.821A>C (p.Tyr274Ser)
|
rs144524228
|
|
|
NM_022725.4(FANCF):c.821A>G (p.Tyr274Cys)
|
rs144524228
|
|
|
NM_022725.4(FANCF):c.829C>G (p.Leu277Val)
|
|
|
|
NM_022725.4(FANCF):c.838G>A (p.Asp280Asn)
|
|
|
|
NM_022725.4(FANCF):c.838G>T (p.Asp280Tyr)
|
|
|
|
NM_022725.4(FANCF):c.841T>C (p.Trp281Arg)
|
|
|
|
NM_022725.4(FANCF):c.845G>A (p.Gly282Asp)
|
rs2133796678
|
|
|
NM_022725.4(FANCF):c.851G>C (p.Arg284Pro)
|
|
|
|
NM_022725.4(FANCF):c.857A>C (p.His286Pro)
|
|
|
|
NM_022725.4(FANCF):c.857A>G (p.His286Arg)
|
rs368940253
|
|
|
NM_022725.4(FANCF):c.85G>C (p.Ala29Pro)
|
|
|
|
NM_022725.4(FANCF):c.866T>C (p.Leu289Pro)
|
rs1177443868
|
|
|
NM_022725.4(FANCF):c.869A>C (p.Gln290Pro)
|
rs2133796621
|
|
|
NM_022725.4(FANCF):c.886G>T (p.Gly296Ter)
|
|
|
|
NM_022725.4(FANCF):c.889A>G (p.Thr297Ala)
|
rs1060501872
|
|
|
NM_022725.4(FANCF):c.88A>G (p.Thr30Ala)
|
|
|
|
NM_022725.4(FANCF):c.899A>G (p.Gln300Arg)
|
rs915379462
|
|
|
NM_022725.4(FANCF):c.89C>G (p.Thr30Ser)
|
rs370347668
|
|
|
NM_022725.4(FANCF):c.921G>T (p.Leu307Phe)
|
rs1205605542
|
|
|
NM_022725.4(FANCF):c.923A>G (p.His308Arg)
|
rs1590540697
|
|
|
NM_022725.4(FANCF):c.924C>A (p.His308Gln)
|
|
|
|
NM_022725.4(FANCF):c.940C>T (p.Leu314Phe)
|
rs1858617232
|
|
|
NM_022725.4(FANCF):c.943dup (p.Cys315fs)
|
rs1590540654
|
|
|
NM_022725.4(FANCF):c.952C>G (p.Pro318Ala)
|
|
|
|
NM_022725.4(FANCF):c.952C>T (p.Pro318Ser)
|
rs746120363
|
|
|
NM_022725.4(FANCF):c.95G>A (p.Arg32His)
|
|
|
|
NM_022725.4(FANCF):c.96_98dup (p.Arg33dup)
|
rs1554963731
|
|
|
NM_022725.4(FANCF):c.98G>A (p.Arg33Gln)
|
rs2133798673
|
|
|
NM_022725.4(FANCF):c.98G>C (p.Arg33Pro)
|
|
|
|
NM_022725.4(FANCF):c.992C>T (p.Thr331Ile)
|
rs1250903119
|
|
|
NM_022725.4(FANCF):c.994T>C (p.Cys332Arg)
|
|
|
|
NM_023110.3(FGFR1):c.1019C>T (p.Thr340Met)
|
rs1064793123
|
|
|
NM_023110.3(FGFR1):c.1064G>C (p.Trp355Ser)
|
rs1563474845
|
|
|
NM_023110.3(FGFR1):c.106G>A (p.Ala36Thr)
|
rs2150966948
|
|
|
NM_023110.3(FGFR1):c.1167C>T (p.Cys389=)
|
rs1338926241
|
|
|
NM_023110.3(FGFR1):c.1168A>G (p.Met390Val)
|
rs376921992
|
|
|
NM_023110.3(FGFR1):c.1229G>A (p.Ser410Asn)
|
|
|
|
NM_023110.3(FGFR1):c.1231C>A (p.Gln411Lys)
|
rs1817962450
|
|
|
NM_023110.3(FGFR1):c.1244A>G (p.His415Arg)
|
rs2150706408
|
|
|
NM_023110.3(FGFR1):c.1253C>T (p.Ala418Val)
|
|
|
|
NM_023110.3(FGFR1):c.1256A>G (p.Lys419Arg)
|
rs1232639613
|
|
|
NM_023110.3(FGFR1):c.1270C>T (p.Arg424Cys)
|
|
|
|
NM_023110.3(FGFR1):c.1271G>A (p.Arg424His)
|
|
|
|
NM_023110.3(FGFR1):c.1274G>A (p.Arg425Lys)
|
|
|
|
NM_023110.3(FGFR1):c.1289C>T (p.Ser430Phe)
|
|
|
|
NM_023110.3(FGFR1):c.1328T>C (p.Leu443Pro)
|
|
|
|
NM_023110.3(FGFR1):c.1343G>A (p.Arg448Gln)
|
rs758138124
|
|
|
NM_023110.3(FGFR1):c.1343G>T (p.Arg448Leu)
|
rs758138124
|
|
|
NM_023110.3(FGFR1):c.1349C>T (p.Ser450Phe)
|
rs2150675272
|
|
|
NM_023110.3(FGFR1):c.1352C>G (p.Ser451Cys)
|
|
|
|
NM_023110.3(FGFR1):c.1376G>T (p.Gly459Val)
|
|
|
|
NM_023110.3(FGFR1):c.1409G>A (p.Arg470His)
|
rs121909637
|
|
|
NM_023110.3(FGFR1):c.140C>T (p.Pro47Leu)
|
|
|
|
NM_023110.3(FGFR1):c.1430+4A>G
|
|
|
|
NM_023110.3(FGFR1):c.147C>T (p.Asp49=)
|
|
|
|
NM_023110.3(FGFR1):c.1494C>A (p.Ile498=)
|
|
|
|
NM_023110.3(FGFR1):c.1519C>T (p.Arg507Cys)
|
|
|
|
NM_023110.3(FGFR1):c.1520G>T (p.Arg507Leu)
|
|
|
|
NM_023110.3(FGFR1):c.1540A>C (p.Lys514Gln)
|
rs199573818
|
|
|
NM_023110.3(FGFR1):c.1552+5G>A
|
|
|
|
NM_023110.3(FGFR1):c.1552T>G (p.Ser518Ala)
|
|
|
|
NM_023110.3(FGFR1):c.1553C>T (p.Ser518Leu)
|
|
|
|
NM_023110.3(FGFR1):c.1592_1594del (p.Glu531_Met532delinsVal)
|
|
|
|
NM_023110.3(FGFR1):c.1600A>G (p.Met534Val)
|
|
|
|
NM_023110.3(FGFR1):c.164G>A (p.Cys55Tyr)
|
rs2150964150
|
|
|
NM_023110.3(FGFR1):c.1655C>G (p.Thr552Arg)
|
rs760702592
|
|
|
NM_023110.3(FGFR1):c.1678A>G (p.Ile560Val)
|
rs2150591908
|
|
|
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe)
|
rs768223019
|
|
|
NM_023110.3(FGFR1):c.1697A>G (p.Lys566Arg)
|
rs531903077
|
|
|
NM_023110.3(FGFR1):c.1703A>G (p.Asn568Ser)
|
|
|
|
NM_023110.3(FGFR1):c.172C>T (p.Arg58Trp)
|
rs1162148796
|
|
|
NM_023110.3(FGFR1):c.1759C>T (p.Pro587Ser)
|
|
|
|
NM_023110.3(FGFR1):c.1771C>A (p.Pro591Thr)
|
rs2150585866
|
|
|
NM_023110.3(FGFR1):c.1775A>G (p.Glu592Gly)
|
|
|
|
NM_023110.3(FGFR1):c.1795G>A (p.Asp599Asn)
|
|
|
|
NM_023110.3(FGFR1):c.179A>T (p.Asp60Val)
|
|
|
|
NM_023110.3(FGFR1):c.179_208del (p.Asp60_Asp69del)
|
rs1387712427
|
|
|
NM_023110.3(FGFR1):c.17G>C (p.Cys6Ser)
|
|
|
|
NM_023110.3(FGFR1):c.1825C>G (p.Arg609Gly)
|
|
|
|
NM_023110.3(FGFR1):c.1854+15_1854+31del
|
|
|
|
NM_023110.3(FGFR1):c.1854+17C>G
|
|
|
|
NM_023110.3(FGFR1):c.1854+7A>T
|
|
|
|
NM_023110.3(FGFR1):c.1865G>A (p.Arg622Gln)
|
rs1815818452
|
|
|
NM_023110.3(FGFR1):c.1907T>A (p.Val636Glu)
|
rs2150563316
|
|
|
NM_023110.3(FGFR1):c.1919C>T (p.Ala640Val)
|
rs1815800575
|
|
|
NM_023110.3(FGFR1):c.1922A>G (p.Asp641Gly)
|
|
|
|
NM_023110.3(FGFR1):c.1931T>G (p.Leu644Arg)
|
|
|
|
NM_023110.3(FGFR1):c.1954G>A (p.Asp652Asn)
|
|
|
|
NM_023110.3(FGFR1):c.1977C>T (p.Asn659=)
|
|
|
|
NM_023110.3(FGFR1):c.2024G>A (p.Arg675Gln)
|
|
|
|
NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro)
|
rs771078736
|
|
|
NM_023110.3(FGFR1):c.2026A>T (p.Ile676Phe)
|
rs2150549553
|
|
|
NM_023110.3(FGFR1):c.2051G>C (p.Trp684Ser)
|
|
|
|
NM_023110.3(FGFR1):c.205G>A (p.Asp69Asn)
|
|
|
|
NM_023110.3(FGFR1):c.2075A>G (p.Glu692Gly)
|
rs397515445
|
|
|
NM_023110.3(FGFR1):c.2089G>C (p.Gly697Arg)
|
|
|
|
NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser)
|
|
|
|
NM_023110.3(FGFR1):c.2168G>A (p.Ser723Asn)
|
|
|
|
NM_023110.3(FGFR1):c.2172C>G (p.Asn724Lys)
|
rs267606806
|
|
|
NM_023110.3(FGFR1):c.2187-13A>G
|
|
|
|
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met)
|
rs2150520798
|
|
|
NM_023110.3(FGFR1):c.2251G>C (p.Val751Leu)
|
|
|
|
NM_023110.3(FGFR1):c.2266C>T (p.Arg756Cys)
|
|
|
|
NM_023110.3(FGFR1):c.2302G>A (p.Asp768Asn)
|
|
|
|
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu)
|
rs1232665126
|
|
|
NM_023110.3(FGFR1):c.2344G>A (p.Asp782Asn)
|
|
|
|
NM_023110.3(FGFR1):c.2348C>T (p.Thr783Ile)
|
|
|
|
NM_023110.3(FGFR1):c.2356T>G (p.Ser786Ala)
|
|
|
|
NM_023110.3(FGFR1):c.236C>A (p.Thr79Asn)
|
|
|
|
NM_023110.3(FGFR1):c.238C>T (p.Arg80Cys)
|
|
|
|
NM_023110.3(FGFR1):c.2393A>C (p.His798Pro)
|
rs755160898
|
|
|
NM_023110.3(FGFR1):c.2394_2395del (p.His798fs)
|
|
|
|
NM_023110.3(FGFR1):c.2407G>A (p.Glu803Lys)
|
|
|
|
NM_023110.3(FGFR1):c.2425C>T (p.Arg809Ter)
|
|
|
|
NM_023110.3(FGFR1):c.2428C>A (p.His810Asn)
|
rs759376422
|
|
|
NM_023110.3(FGFR1):c.2432C>G (p.Pro811Arg)
|
|
|
|
NM_023110.3(FGFR1):c.245C>T (p.Thr82Ile)
|
|
|
|
NM_023110.3(FGFR1):c.2461C>T (p.Arg821Cys)
|
|
|
|
NM_023110.3(FGFR1):c.2464C>A (p.Arg822Ser)
|
|
|
|
NM_023110.3(FGFR1):c.256G>A (p.Val86Met)
|
rs1404670039
|
|
|
NM_023110.3(FGFR1):c.268G>T (p.Asp90Tyr)
|
|
|
|
NM_023110.3(FGFR1):c.281C>A (p.Ala94Glu)
|
|
|
|
NM_023110.3(FGFR1):c.292C>T (p.Leu98Phe)
|
|
|
|
NM_023110.3(FGFR1):c.295T>C (p.Tyr99His)
|
rs1822219907
|
|
|
NM_023110.3(FGFR1):c.316C>T (p.Pro106Ser)
|
|
|
|
NM_023110.3(FGFR1):c.335C>G (p.Thr112Ser)
|
|
|
|
NM_023110.3(FGFR1):c.338A>G (p.Tyr113Cys)
|
|
|
|
NM_023110.3(FGFR1):c.341T>C (p.Phe114Ser)
|
rs2150955298
|
|
|
NM_023110.3(FGFR1):c.362C>T (p.Ala121Val)
|
|
|
|
NM_023110.3(FGFR1):c.371C>T (p.Ser124Phe)
|
|
|
|
NM_023110.3(FGFR1):c.381TGA[7] (p.Asp133dup)
|
rs138489552
|
|
|
NM_023110.3(FGFR1):c.389A>T (p.Asp130Val)
|
rs1161536828
|
|
|
NM_023110.3(FGFR1):c.397_399dup (p.Asp133_Ser134insAsp)
|
|
|
|
NM_023110.3(FGFR1):c.399C>A (p.Asp133Glu)
|
|
|
|
NM_023110.3(FGFR1):c.404C>T (p.Ser135Phe)
|
|
|
|
NM_023110.3(FGFR1):c.425A>T (p.Asp142Val)
|
|
|
|
NM_023110.3(FGFR1):c.449-4dup
|
|
|
|
NM_023110.3(FGFR1):c.454G>C (p.Ala152Pro)
|
rs1033377277
|
|
|
NM_023110.3(FGFR1):c.506C>T (p.Pro169Leu)
|
rs1413642890
|
|
|
NM_023110.3(FGFR1):c.523A>G (p.Lys175Glu)
|
|
|
|
NM_023110.3(FGFR1):c.532T>C (p.Cys178Arg)
|
rs2150914598
|
|
|
NM_023110.3(FGFR1):c.557C>G (p.Pro186Arg)
|
rs2150912609
|
|
|
NM_023110.3(FGFR1):c.617A>G (p.Tyr206Cys)
|
|
|
|
NM_023110.3(FGFR1):c.621+5G>A
|
|
|
|
NM_023110.3(FGFR1):c.64A>G (p.Arg22Gly)
|
|
|
|
NM_023110.3(FGFR1):c.658G>C (p.Val220Leu)
|
|
|
|
NM_023110.3(FGFR1):c.662T>A (p.Val221Glu)
|
|
|
|
NM_023110.3(FGFR1):c.719A>G (p.Asn240Ser)
|
|
|
|
NM_023110.3(FGFR1):c.77C>A (p.Thr26Asn)
|
rs1833133571
|
|
|
NM_023110.3(FGFR1):c.823T>G (p.Phe275Val)
|
|
|
|
NM_023110.3(FGFR1):c.82C>T (p.Pro28Ser)
|
|
|
|
NM_023110.3(FGFR1):c.877A>G (p.Ile293Val)
|
|
|
|
NM_023110.3(FGFR1):c.92-19G>A
|
rs753723806
|
|
|
NM_023110.3(FGFR1):c.991G>T (p.Val331Phe)
|
|
|
|
NM_032043.2(BRIP1):c.1474-7C>A
|
rs886041146
|
|
|
NM_032043.2(BRIP1):c.1780_1781inv (p.Leu594Lys)
|
|
|
|
NM_032043.2(BRIP1):c.3277delinsTTCAGAA (p.Leu1093delinsPheArgIle)
|
rs1555572724
|
|
|
NM_032043.2(BRIP1):c.3599delinsTT (p.His1200fs)
|
rs1555572516
|
|
|
NM_032043.3(BRIP1):c.1000G>T (p.Ala334Ser)
|
rs535414791
|
|
|
NM_032043.3(BRIP1):c.1001C>G (p.Ala334Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1006G>A (p.Asp336Asn)
|
|
|
|
NM_032043.3(BRIP1):c.1007A>T (p.Asp336Val)
|
|
|
|
NM_032043.3(BRIP1):c.1009A>G (p.Ile337Val)
|
rs1365389773
|
|
|
NM_032043.3(BRIP1):c.1009A>T (p.Ile337Leu)
|
|
|
|
NM_032043.3(BRIP1):c.100A>G (p.Arg34Gly)
|
rs2145852980
|
|
|
NM_032043.3(BRIP1):c.1010T>C (p.Ile337Thr)
|
rs2077990704
|
|
|
NM_032043.3(BRIP1):c.1012G>A (p.Glu338Lys)
|
rs777653224
|
|
|
NM_032043.3(BRIP1):c.1012G>C (p.Glu338Gln)
|
|
|
|
NM_032043.3(BRIP1):c.1015G>A (p.Glu339Lys)
|
rs2145337853
|
|
|
NM_032043.3(BRIP1):c.1019T>C (p.Leu340Pro)
|
|
|
|
NM_032043.3(BRIP1):c.1021G>A (p.Val341Ile)
|
rs863224797
|
|
|
NM_032043.3(BRIP1):c.1022T>G (p.Val341Gly)
|
rs2145337483
|
|
|
NM_032043.3(BRIP1):c.1024A>C (p.Ser342Arg)
|
rs1603343284
|
|
|
NM_032043.3(BRIP1):c.1028T>C (p.Leu343Pro)
|
rs1414803437
|
|
|
NM_032043.3(BRIP1):c.1030G>A (p.Gly344Arg)
|
rs1555607734
|
|
|
NM_032043.3(BRIP1):c.1031G>A (p.Gly344Glu)
|
rs751841684
|
|
|
NM_032043.3(BRIP1):c.1032GAA[1] (p.Lys346del)
|
rs2145336622
|
|
|
NM_032043.3(BRIP1):c.1034A>C (p.Lys345Thr)
|
rs2077989830
|
|
|
NM_032043.3(BRIP1):c.1034A>G (p.Lys345Arg)
|
rs2077989830
|
|
|
NM_032043.3(BRIP1):c.1036A>G (p.Lys346Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1040T>C (p.Leu347Pro)
|
rs786201819
|
|
|
NM_032043.3(BRIP1):c.1045G>A (p.Ala349Thr)
|
rs149364097
|
|
|
NM_032043.3(BRIP1):c.1045G>T (p.Ala349Ser)
|
rs149364097
|
|
|
NM_032043.3(BRIP1):c.1046C>T (p.Ala349Val)
|
rs1184306036
|
|
|
NM_032043.3(BRIP1):c.1048T>C (p.Cys350Arg)
|
rs876658173
|
|
|
NM_032043.3(BRIP1):c.1048T>G (p.Cys350Gly)
|
rs876658173
|
|
|
NM_032043.3(BRIP1):c.1049G>A (p.Cys350Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.1058A>C (p.Tyr353Ser)
|
rs2077989056
|
|
|
NM_032043.3(BRIP1):c.1058A>G (p.Tyr353Cys)
|
|
|
|
NM_032043.3(BRIP1):c.1060A>G (p.Thr354Ala)
|
rs2145335496
|
|
|
NM_032043.3(BRIP1):c.1066C>G (p.Arg356Gly)
|
rs730881633
|
|
|
NM_032043.3(BRIP1):c.1067G>A (p.Arg356Gln)
|
rs1289648562
|
|
|
NM_032043.3(BRIP1):c.1069G>A (p.Glu357Lys)
|
rs769081927
|
|
|
NM_032043.3(BRIP1):c.1072C>A (p.Leu358Ile)
|
rs775191379
|
|
|
NM_032043.3(BRIP1):c.1076T>C (p.Ile359Thr)
|
rs2145334735
|
|
|
NM_032043.3(BRIP1):c.107T>C (p.Leu36Ser)
|
rs1060501767
|
|
|
NM_032043.3(BRIP1):c.1081G>A (p.Asp361Asn)
|
rs1060501737
|
|
|
NM_032043.3(BRIP1):c.1081G>T (p.Asp361Tyr)
|
rs1060501737
|
|
|
NM_032043.3(BRIP1):c.108A>C (p.Leu36Phe)
|
rs774586397
|
|
|
NM_032043.3(BRIP1):c.1090A>G (p.Ile364Val)
|
rs770306753
|
|
|
NM_032043.3(BRIP1):c.1091T>C (p.Ile364Thr)
|
rs2077987772
|
|
|
NM_032043.3(BRIP1):c.1093A>C (p.Ile365Leu)
|
rs749251680
|
|
|
NM_032043.3(BRIP1):c.1093A>G (p.Ile365Val)
|
rs749251680
|
|
|
NM_032043.3(BRIP1):c.1098T>G (p.Phe366Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1099T>C (p.Cys367Arg)
|
rs1567831592
|
|
|
NM_032043.3(BRIP1):c.1102C>T (p.Pro368Ser)
|
rs1555607669
|
|
|
NM_032043.3(BRIP1):c.1103C>T (p.Pro368Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1106A>C (p.Tyr369Ser)
|
rs786202218
|
|
|
NM_032043.3(BRIP1):c.1106A>G (p.Tyr369Cys)
|
rs786202218
|
|
|
NM_032043.3(BRIP1):c.110A>G (p.Asn37Ser)
|
rs876659105
|
|
|
NM_032043.3(BRIP1):c.1112A>G (p.Tyr371Cys)
|
rs1060501768
|
|
|
NM_032043.3(BRIP1):c.1112A>T (p.Tyr371Phe)
|
|
|
|
NM_032043.3(BRIP1):c.1114C>A (p.Leu372Ile)
|
rs786202637
|
|
|
NM_032043.3(BRIP1):c.1119A>G (p.Leu373=)
|
|
|
|
NM_032043.3(BRIP1):c.1122T>A (p.Asp374Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1123G>A (p.Ala375Thr)
|
rs878855135
|
|
|
NM_032043.3(BRIP1):c.1124C>T (p.Ala375Val)
|
rs786202192
|
|
|
NM_032043.3(BRIP1):c.1129A>G (p.Ile377Val)
|
rs876659688
|
|
|
NM_032043.3(BRIP1):c.112A>G (p.Ser38Gly)
|
rs2145852551
|
|
|
NM_032043.3(BRIP1):c.1131A>G (p.Ile377Met)
|
rs927733243
|
|
|
NM_032043.3(BRIP1):c.1133G>A (p.Arg378Lys)
|
rs1555607637
|
|
|
NM_032043.3(BRIP1):c.1136A>G (p.Glu379Gly)
|
rs1555607635
|
|
|
NM_032043.3(BRIP1):c.1138A>G (p.Ser380Gly)
|
rs1555607633
|
|
|
NM_032043.3(BRIP1):c.1139G>A (p.Ser380Asn)
|
rs569696977
|
|
|
NM_032043.3(BRIP1):c.1139G>T (p.Ser380Ile)
|
rs569696977
|
|
|
NM_032043.3(BRIP1):c.113G>A (p.Ser38Asn)
|
rs1555618429
|
|
|
NM_032043.3(BRIP1):c.1140+3G>A
|
rs1322162359
|
|
|
NM_032043.3(BRIP1):c.1140+3G>T
|
rs1322162359
|
|
|
NM_032043.3(BRIP1):c.1140+4A>T
|
rs2077985597
|
|
|
NM_032043.3(BRIP1):c.1140+7A>G
|
rs1299846526
|
|
|
NM_032043.3(BRIP1):c.1141-3T>C
|
rs773264592
|
|
|
NM_032043.3(BRIP1):c.1141-5T>A
|
rs1060501760
|
|
|
NM_032043.3(BRIP1):c.1141-6T>A
|
|
|
|
NM_032043.3(BRIP1):c.1141-7_1141-3del
|
rs1060501744
|
|
|
NM_032043.3(BRIP1):c.1142T>A (p.Met381Lys)
|
rs1060501741
|
|
|
NM_032043.3(BRIP1):c.1142T>C (p.Met381Thr)
|
rs1060501741
|
|
|
NM_032043.3(BRIP1):c.1144G>A (p.Asp382Asn)
|
rs1452168198
|
|
|
NM_032043.3(BRIP1):c.1144G>T (p.Asp382Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.1147T>G (p.Leu383Val)
|
rs1603342360
|
|
|
NM_032043.3(BRIP1):c.114C>A (p.Ser38Arg)
|
rs2078951392
|
|
|
NM_032043.3(BRIP1):c.1150A>T (p.Asn384Tyr)
|
rs1603342354
|
|
|
NM_032043.3(BRIP1):c.1151A>G (p.Asn384Ser)
|
rs1060501750
|
|
|
NM_032043.3(BRIP1):c.1156A>G (p.Lys386Glu)
|
rs730881635
|
|
|
NM_032043.3(BRIP1):c.1159G>A (p.Glu387Lys)
|
rs1555607230
|
|
|
NM_032043.3(BRIP1):c.1161_1163del (p.Gln388del)
|
rs2145309517
|
|
|
NM_032043.3(BRIP1):c.1164G>T (p.Gln388His)
|
rs1603342334
|
|
|
NM_032043.3(BRIP1):c.1165G>A (p.Val389Ile)
|
rs587780825
|
|
|
NM_032043.3(BRIP1):c.1165G>C (p.Val389Leu)
|
rs587780825
|
|
|
NM_032043.3(BRIP1):c.1165G>T (p.Val389Phe)
|
rs587780825
|
|
|
NM_032043.3(BRIP1):c.1166T>C (p.Val389Ala)
|
rs2145309289
|
|
|
NM_032043.3(BRIP1):c.1166T>G (p.Val389Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1168G>A (p.Val390Ile)
|
rs781168634
|
|
|
NM_032043.3(BRIP1):c.1168G>T (p.Val390Phe)
|
rs781168634
|
|
|
NM_032043.3(BRIP1):c.1173T>G (p.Ile391Met)
|
rs1427603031
|
|
|
NM_032043.3(BRIP1):c.1177G>C (p.Asp393His)
|
rs1555607200
|
|
|
NM_032043.3(BRIP1):c.1180G>C (p.Glu394Gln)
|
rs2077952602
|
|
|
NM_032043.3(BRIP1):c.1183G>A (p.Ala395Thr)
|
rs2077952484
|
|
|
NM_032043.3(BRIP1):c.1184C>T (p.Ala395Val)
|
rs778992385
|
|
|
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp)
|
rs1603342316
|
|
|
NM_032043.3(BRIP1):c.1189A>C (p.Asn397His)
|
rs587782039
|
|
|
NM_032043.3(BRIP1):c.118C>G (p.Gln40Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1190A>T (p.Asn397Ile)
|
|
|
|
NM_032043.3(BRIP1):c.1193T>G (p.Ile398Ser)
|
rs2145307952
|
|
|
NM_032043.3(BRIP1):c.1195G>C (p.Glu399Gln)
|
rs587782816
|
|
|
NM_032043.3(BRIP1):c.1197G>C (p.Glu399Asp)
|
rs1567829526
|
|
|
NM_032043.3(BRIP1):c.119A>C (p.Gln40Pro)
|
rs2078951315
|
|
|
NM_032043.3(BRIP1):c.11T>C (p.Met4Thr)
|
rs2078973570
|
|
|
NM_032043.3(BRIP1):c.1201T>C (p.Cys401Arg)
|
rs756636362
|
|
|
NM_032043.3(BRIP1):c.1205C>T (p.Ala402Val)
|
rs876659282
|
|
|
NM_032043.3(BRIP1):c.1207C>G (p.Arg403Gly)
|
rs369631413
|
|
|
NM_032043.3(BRIP1):c.1219A>G (p.Ser407Gly)
|
rs1555607156
|
|
|
NM_032043.3(BRIP1):c.121C>T (p.His41Tyr)
|
rs770930270
|
|
|
NM_032043.3(BRIP1):c.1221T>G (p.Ser407Arg)
|
rs2077950726
|
|
|
NM_032043.3(BRIP1):c.1225A>G (p.Ser409Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1226G>A (p.Ser409Asn)
|
rs587782247
|
|
|
NM_032043.3(BRIP1):c.1226G>C (p.Ser409Thr)
|
rs587782247
|
|
|
NM_032043.3(BRIP1):c.1228G>A (p.Val410Ile)
|
rs2145305888
|
|
|
NM_032043.3(BRIP1):c.1228G>C (p.Val410Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1237G>C (p.Val413Leu)
|
rs2145305445
|
|
|
NM_032043.3(BRIP1):c.1238T>C (p.Val413Ala)
|
rs45576134
|
|
|
NM_032043.3(BRIP1):c.1242G>C (p.Gln414His)
|
rs1257200897
|
|
|
NM_032043.3(BRIP1):c.1247G>T (p.Arg416Leu)
|
|
|
|
NM_032043.3(BRIP1):c.124T>C (p.Cys42Arg)
|
rs1567877037
|
|
|
NM_032043.3(BRIP1):c.124T>G (p.Cys42Gly)
|
rs1567877037
|
|
|
NM_032043.3(BRIP1):c.1250T>A (p.Phe417Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.1251T>A (p.Phe417Leu)
|
rs2077949494
|
|
|
NM_032043.3(BRIP1):c.1252G>A (p.Ala418Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1252G>T (p.Ala418Ser)
|
rs1567829310
|
|
|
NM_032043.3(BRIP1):c.1255C>G (p.Arg419Gly)
|
rs150624408
|
|
|
NM_032043.3(BRIP1):c.1256G>C (p.Arg419Pro)
|
|
|
|
NM_032043.3(BRIP1):c.1258G>A (p.Asp420Asn)
|
rs2077949084
|
|
|
NM_032043.3(BRIP1):c.125G>T (p.Cys42Phe)
|
rs1555618423
|
|
|
NM_032043.3(BRIP1):c.1261G>A (p.Glu421Lys)
|
rs2077949016
|
|
|
NM_032043.3(BRIP1):c.1262A>T (p.Glu421Val)
|
rs2077948964
|
|
|
NM_032043.3(BRIP1):c.1267G>C (p.Asp423His)
|
|
|
|
NM_032043.3(BRIP1):c.1270A>C (p.Ser424Arg)
|
rs1028779004
|
|
|
NM_032043.3(BRIP1):c.1270A>G (p.Ser424Gly)
|
rs1028779004
|
|
|
NM_032043.3(BRIP1):c.1271G>A (p.Ser424Asn)
|
rs1354610577
|
|
|
NM_032043.3(BRIP1):c.1273A>G (p.Met425Val)
|
rs1567829230
|
|
|
NM_032043.3(BRIP1):c.1274T>C (p.Met425Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1275G>A (p.Met425Ile)
|
rs1555607086
|
|
|
NM_032043.3(BRIP1):c.1280A>G (p.Asn427Ser)
|
rs1466605276
|
|
|
NM_032043.3(BRIP1):c.1283A>C (p.Asn428Thr)
|
rs779237423
|
|
|
NM_032043.3(BRIP1):c.1285A>C (p.Asn429His)
|
|
|
|
NM_032043.3(BRIP1):c.1285A>G (p.Asn429Asp)
|
rs1555607082
|
|
|
NM_032043.3(BRIP1):c.1288A>G (p.Ile430Val)
|
rs1567829158
|
|
|
NM_032043.3(BRIP1):c.1288A>T (p.Ile430Leu)
|
rs1567829158
|
|
|
NM_032043.3(BRIP1):c.1289T>A (p.Ile430Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1289T>C (p.Ile430Thr)
|
rs1555607077
|
|
|
NM_032043.3(BRIP1):c.1291A>T (p.Arg431Trp)
|
|
|
|
NM_032043.3(BRIP1):c.1292G>A (p.Arg431Lys)
|
rs1328630889
|
|
|
NM_032043.3(BRIP1):c.129G>T (p.Leu43Phe)
|
rs2145852056
|
|
|
NM_032043.3(BRIP1):c.12G>A (p.Met4Ile)
|
rs1386396228
|
|
|
NM_032043.3(BRIP1):c.1301A>C (p.Asp434Ala)
|
rs1567829117
|
|
|
NM_032043.3(BRIP1):c.1301A>G (p.Asp434Gly)
|
rs1567829117
|
|
|
NM_032043.3(BRIP1):c.1301A>T (p.Asp434Val)
|
rs1567829117
|
|
|
NM_032043.3(BRIP1):c.1303C>T (p.His435Tyr)
|
rs1060501758
|
|
|
NM_032043.3(BRIP1):c.1305T>G (p.His435Gln)
|
rs1352266926
|
|
|
NM_032043.3(BRIP1):c.1307A>T (p.Glu436Val)
|
|
|
|
NM_032043.3(BRIP1):c.1309C>G (p.Pro437Ala)
|
rs878855137
|
|
|
NM_032043.3(BRIP1):c.1313T>C (p.Leu438Pro)
|
rs1555607056
|
|
|
NM_032043.3(BRIP1):c.1318G>T (p.Ala440Ser)
|
rs2145300568
|
|
|
NM_032043.3(BRIP1):c.1322T>G (p.Val441Gly)
|
rs1458068665
|
|
|
NM_032043.3(BRIP1):c.1324T>C (p.Cys442Arg)
|
rs1603342146
|
|
|
NM_032043.3(BRIP1):c.1324T>G (p.Cys442Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1325G>C (p.Cys442Ser)
|
rs1555607040
|
|
|
NM_032043.3(BRIP1):c.1327T>C (p.Cys443Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1328G>A (p.Cys443Tyr)
|
rs1555607035
|
|
|
NM_032043.3(BRIP1):c.1329T>C (p.Cys443=)
|
rs2145299845
|
|
|
NM_032043.3(BRIP1):c.1330A>G (p.Ser444Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1331G>C (p.Ser444Thr)
|
rs1603342140
|
|
|
NM_032043.3(BRIP1):c.1332C>A (p.Ser444Arg)
|
rs200581792
|
|
|
NM_032043.3(BRIP1):c.1332C>G (p.Ser444Arg)
|
rs200581792
|
|
|
NM_032043.3(BRIP1):c.1336A>C (p.Ile446Leu)
|
rs786203496
|
|
|
NM_032043.3(BRIP1):c.1336A>G (p.Ile446Val)
|
rs786203496
|
|
|
NM_032043.3(BRIP1):c.1337T>C (p.Ile446Thr)
|
rs1555607024
|
|
|
NM_032043.3(BRIP1):c.1339A>C (p.Asn447His)
|
rs2077945752
|
|
|
NM_032043.3(BRIP1):c.133G>A (p.Glu45Lys)
|
rs587781292
|
|
|
NM_032043.3(BRIP1):c.133G>C (p.Glu45Gln)
|
rs587781292
|
|
|
NM_032043.3(BRIP1):c.1340+3A>C
|
rs1060501770
|
|
|
NM_032043.3(BRIP1):c.1340+6A>T
|
|
|
|
NM_032043.3(BRIP1):c.1340+9A>G
|
rs376487588
|
|
|
NM_032043.3(BRIP1):c.1340A>C (p.Asn447Thr)
|
rs1603342134
|
|
|
NM_032043.3(BRIP1):c.1341-3C>G
|
rs864622597
|
|
|
NM_032043.3(BRIP1):c.1341-5T>C
|
|
|
|
NM_032043.3(BRIP1):c.1341-6T>G
|
|
|
|
NM_032043.3(BRIP1):c.1343G>T (p.Trp448Leu)
|
rs775171520
|
|
|
NM_032043.3(BRIP1):c.1348G>A (p.Glu450Lys)
|
rs2077857156
|
|
|
NM_032043.3(BRIP1):c.1352C>T (p.Ala451Val)
|
rs771861055
|
|
|
NM_032043.3(BRIP1):c.1354A>G (p.Asn452Asp)
|
rs2077857017
|
|
|
NM_032043.3(BRIP1):c.1356C>G (p.Asn452Lys)
|
rs730881640
|
|
|
NM_032043.3(BRIP1):c.1360G>A (p.Glu454Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1361A>C (p.Glu454Ala)
|
rs769918040
|
|
|
NM_032043.3(BRIP1):c.1362A>C (p.Glu454Asp)
|
rs786202553
|
|
|
NM_032043.3(BRIP1):c.1363T>C (p.Tyr455His)
|
rs587780826
|
|
|
NM_032043.3(BRIP1):c.1364A>G (p.Tyr455Cys)
|
rs2077856391
|
|
|
NM_032043.3(BRIP1):c.1366C>A (p.Leu456Ile)
|
rs1379791142
|
|
|
NM_032043.3(BRIP1):c.1366C>G (p.Leu456Val)
|
|
|
|
NM_032043.3(BRIP1):c.1367T>A (p.Leu456His)
|
rs1555605947
|
|
|
NM_032043.3(BRIP1):c.1369G>A (p.Val457Ile)
|
rs748221377
|
|
|
NM_032043.3(BRIP1):c.1369G>T (p.Val457Leu)
|
rs748221377
|
|
|
NM_032043.3(BRIP1):c.1370T>G (p.Val457Gly)
|
rs1369274888
|
|
|
NM_032043.3(BRIP1):c.1373A>G (p.Glu458Gly)
|
rs1555605942
|
|
|
NM_032043.3(BRIP1):c.1374A>C (p.Glu458Asp)
|
rs2145243668
|
|
|
NM_032043.3(BRIP1):c.1377A>T (p.Arg459Ser)
|
rs780310294
|
|
|
NM_032043.3(BRIP1):c.137G>A (p.Ser46Asn)
|
rs1567877002
|
|
|
NM_032043.3(BRIP1):c.1382A>G (p.Tyr461Cys)
|
|
|
|
NM_032043.3(BRIP1):c.1384G>C (p.Glu462Gln)
|
rs1603340353
|
|
|
NM_032043.3(BRIP1):c.1387T>C (p.Ser463Pro)
|
rs1555605920
|
|
|
NM_032043.3(BRIP1):c.1393T>A (p.Cys465Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1399A>T (p.Ile467Leu)
|
|
|
|
NM_032043.3(BRIP1):c.139C>A (p.Pro47Thr)
|
rs28903098
|
|
|
NM_032043.3(BRIP1):c.13T>G (p.Trp5Gly)
|
rs2078973498
|
|
|
NM_032043.3(BRIP1):c.1401A>G (p.Ile467Met)
|
rs764979728
|
|
|
NM_032043.3(BRIP1):c.1402T>C (p.Trp468Arg)
|
rs1369814158
|
|
|
NM_032043.3(BRIP1):c.1405A>T (p.Ser469Cys)
|
rs2077854841
|
|
|
NM_032043.3(BRIP1):c.1406G>A (p.Ser469Asn)
|
|
|
|
NM_032043.3(BRIP1):c.1408G>A (p.Gly470Arg)
|
rs1603340339
|
|
|
NM_032043.3(BRIP1):c.1412A>G (p.Asn471Ser)
|
rs1555605906
|
|
|
NM_032043.3(BRIP1):c.1414G>C (p.Glu472Gln)
|
rs1555605902
|
|
|
NM_032043.3(BRIP1):c.1419G>T (p.Met473Ile)
|
|
|
|
NM_032043.3(BRIP1):c.1421T>A (p.Leu474His)
|
|
|
|
NM_032043.3(BRIP1):c.1423T>G (p.Leu475Val)
|
|
|
|
NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser)
|
rs1567825164
|
|
|
NM_032043.3(BRIP1):c.1432C>T (p.His478Tyr)
|
rs761452695
|
|
|
NM_032043.3(BRIP1):c.1433A>C (p.His478Pro)
|
rs45501097
|
|
|
NM_032043.3(BRIP1):c.1434C>A (p.His478Gln)
|
rs2077853857
|
|
|
NM_032043.3(BRIP1):c.1435A>G (p.Lys479Glu)
|
rs2077853790
|
|
|
NM_032043.3(BRIP1):c.1436A>G (p.Lys479Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1438A>G (p.Met480Val)
|
rs1422020047
|
|
|
NM_032043.3(BRIP1):c.143C>G (p.Thr48Arg)
|
rs755317452
|
|
|
NM_032043.3(BRIP1):c.143C>T (p.Thr48Ile)
|
rs755317452
|
|
|
NM_032043.3(BRIP1):c.1440G>A (p.Met480Ile)
|
|
|
|
NM_032043.3(BRIP1):c.1440G>C (p.Met480Ile)
|
rs1555605887
|
|
|
NM_032043.3(BRIP1):c.1441G>A (p.Gly481Ser)
|
rs587780229
|
|
|
NM_032043.3(BRIP1):c.1442G>T (p.Gly481Val)
|
rs200062099
|
|
|
NM_032043.3(BRIP1):c.1446C>G (p.Ile482Met)
|
rs759360709
|
|
|
NM_032043.3(BRIP1):c.1448C>G (p.Thr483Ser)
|
rs1555605874
|
|
|
NM_032043.3(BRIP1):c.1451C>T (p.Thr484Ile)
|
rs2145239872
|
|
|
NM_032043.3(BRIP1):c.1453G>A (p.Ala485Thr)
|
rs2077853006
|
|
|
NM_032043.3(BRIP1):c.1453_1455del (p.Ala485del)
|
rs2077852941
|
|
|
NM_032043.3(BRIP1):c.1454C>A (p.Ala485Asp)
|
|
|
|
NM_032043.3(BRIP1):c.1456A>G (p.Thr486Ala)
|
|
|
|
NM_032043.3(BRIP1):c.1457C>T (p.Thr486Ile)
|
rs1603340296
|
|
|
NM_032043.3(BRIP1):c.1462C>T (p.Pro488Ser)
|
rs1450320184
|
|
|
NM_032043.3(BRIP1):c.1463C>T (p.Pro488Leu)
|
rs1237035767
|
|
|
NM_032043.3(BRIP1):c.1465A>G (p.Ile489Val)
|
rs1555605855
|
|
|
NM_032043.3(BRIP1):c.1469T>C (p.Leu490Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1469T>G (p.Leu490Trp)
|
rs2077852333
|
|
|
NM_032043.3(BRIP1):c.1470G>T (p.Leu490Phe)
|
rs1567824994
|
|
|
NM_032043.3(BRIP1):c.1472A>G (p.Gln491Arg)
|
rs1555605852
|
|
|
NM_032043.3(BRIP1):c.1472A>T (p.Gln491Leu)
|
rs1555605852
|
|
|
NM_032043.3(BRIP1):c.1473+3A>T
|
rs2077852092
|
|
|
NM_032043.3(BRIP1):c.1473+4_1473+8del
|
rs730881650
|
|
|
NM_032043.3(BRIP1):c.1473G>C (p.Gln491His)
|
|
|
|
NM_032043.3(BRIP1):c.1474-10T>C
|
rs1555603645
|
|
|
NM_032043.3(BRIP1):c.1474-11A>G
|
rs1230175864
|
|
|
NM_032043.3(BRIP1):c.1474-5T>G
|
|
|
|
NM_032043.3(BRIP1):c.1474G>A (p.Gly492Arg)
|
rs2145142389
|
|
|
NM_032043.3(BRIP1):c.1475G>T (p.Gly492Val)
|
rs2077672955
|
|
|
NM_032043.3(BRIP1):c.1477C>T (p.His493Tyr)
|
rs1555603628
|
|
|
NM_032043.3(BRIP1):c.1478A>T (p.His493Leu)
|
rs1555603626
|
|
|
NM_032043.3(BRIP1):c.1480T>C (p.Phe494Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1483T>G (p.Ser495Ala)
|
rs1555603617
|
|
|
NM_032043.3(BRIP1):c.1484C>A (p.Ser495Tyr)
|
rs536081549
|
|
|
NM_032043.3(BRIP1):c.1487C>T (p.Ala496Val)
|
rs1555603612
|
|
|
NM_032043.3(BRIP1):c.1489G>A (p.Val497Ile)
|
rs876658725
|
|
|
NM_032043.3(BRIP1):c.1489G>C (p.Val497Leu)
|
rs876658725
|
|
|
NM_032043.3(BRIP1):c.148A>G (p.Ser50Gly)
|
rs2078950409
|
|
|
NM_032043.3(BRIP1):c.1492C>A (p.Leu498Ile)
|
rs1603337024
|
|
|
NM_032043.3(BRIP1):c.1493T>A (p.Leu498His)
|
rs1555603600
|
|
|
NM_032043.3(BRIP1):c.1496A>G (p.Gln499Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1497A>G (p.Gln499=)
|
rs1555603597
|
|
|
NM_032043.3(BRIP1):c.1498A>G (p.Lys500Glu)
|
rs2077672083
|
|
|
NM_032043.3(BRIP1):c.1501G>C (p.Glu501Gln)
|
|
|
|
NM_032043.3(BRIP1):c.1504G>A (p.Glu502Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1507A>G (p.Lys503Glu)
|
rs1555603594
|
|
|
NM_032043.3(BRIP1):c.1509A>C (p.Lys503Asn)
|
rs1443429619
|
|
|
NM_032043.3(BRIP1):c.1511T>C (p.Ile504Thr)
|
rs755306832
|
|
|
NM_032043.3(BRIP1):c.1512C>G (p.Ile504Met)
|
rs876660478
|
|
|
NM_032043.3(BRIP1):c.1513T>C (p.Ser505Pro)
|
rs1603337009
|
|
|
NM_032043.3(BRIP1):c.1514C>T (p.Ser505Leu)
|
rs945661395
|
|
|
NM_032043.3(BRIP1):c.1516C>A (p.Pro506Thr)
|
rs2077671245
|
|
|
NM_032043.3(BRIP1):c.1516C>T (p.Pro506Ser)
|
rs2077671245
|
|
|
NM_032043.3(BRIP1):c.1517C>A (p.Pro506Gln)
|
rs2077671171
|
|
|
NM_032043.3(BRIP1):c.1517C>T (p.Pro506Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1519A>G (p.Ile507Val)
|
rs1555603569
|
|
|
NM_032043.3(BRIP1):c.1522T>G (p.Tyr508Asp)
|
rs2077671034
|
|
|
NM_032043.3(BRIP1):c.1523A>G (p.Tyr508Cys)
|
rs1567817029
|
|
|
NM_032043.3(BRIP1):c.1526G>A (p.Gly509Asp)
|
rs1555603567
|
|
|
NM_032043.3(BRIP1):c.1528A>G (p.Lys510Glu)
|
rs1603336991
|
|
|
NM_032043.3(BRIP1):c.1529A>C (p.Lys510Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1534G>A (p.Glu512Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1535A>G (p.Glu512Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1538C>T (p.Ala513Val)
|
|
|
|
NM_032043.3(BRIP1):c.1543G>A (p.Glu515Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1545A>C (p.Glu515Asp)
|
rs1567816977
|
|
|
NM_032043.3(BRIP1):c.1546G>A (p.Val516Ile)
|
rs1567816972
|
|
|
NM_032043.3(BRIP1):c.1547T>A (p.Val516Glu)
|
rs2077670264
|
|
|
NM_032043.3(BRIP1):c.1549C>T (p.Pro517Ser)
|
rs1603336970
|
|
|
NM_032043.3(BRIP1):c.1550C>T (p.Pro517Leu)
|
rs786202169
|
|
|
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile)
|
rs786201701
|
|
|
NM_032043.3(BRIP1):c.1553T>A (p.Val518Asp)
|
rs1555603541
|
|
|
NM_032043.3(BRIP1):c.1555A>T (p.Ile519Phe)
|
rs2145137902
|
|
|
NM_032043.3(BRIP1):c.1556T>C (p.Ile519Thr)
|
rs1555603538
|
|
|
NM_032043.3(BRIP1):c.1558A>G (p.Ser520Gly)
|
rs2077669665
|
|
|
NM_032043.3(BRIP1):c.1559G>A (p.Ser520Asn)
|
rs757629526
|
|
|
NM_032043.3(BRIP1):c.1561G>A (p.Ala521Thr)
|
rs913184257
|
|
|
NM_032043.3(BRIP1):c.1562C>T (p.Ala521Val)
|
rs2077669449
|
|
|
NM_032043.3(BRIP1):c.1564T>C (p.Ser522Pro)
|
rs2077669404
|
|
|
NM_032043.3(BRIP1):c.1567A>G (p.Thr523Ala)
|
rs1555603510
|
|
|
NM_032043.3(BRIP1):c.1568C>T (p.Thr523Ile)
|
rs1060501764
|
|
|
NM_032043.3(BRIP1):c.156A>C (p.Lys52Asn)
|
rs1603367700
|
|
|
NM_032043.3(BRIP1):c.1571A>C (p.Gln524Pro)
|
rs587781726
|
|
|
NM_032043.3(BRIP1):c.1571A>T (p.Gln524Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu)
|
rs1064795196
|
|
|
NM_032043.3(BRIP1):c.1577T>A (p.Met526Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1578G>A (p.Met526Ile)
|
rs2077668951
|
|
|
NM_032043.3(BRIP1):c.1580T>G (p.Leu527Arg)
|
rs1603336934
|
|
|
NM_032043.3(BRIP1):c.1582A>G (p.Lys528Glu)
|
rs748962730
|
|
|
NM_032043.3(BRIP1):c.1585G>C (p.Gly529Arg)
|
rs876659321
|
|
|
NM_032043.3(BRIP1):c.1588C>T (p.Leu530Phe)
|
rs1326418771
|
|
|
NM_032043.3(BRIP1):c.1589T>C (p.Leu530Pro)
|
rs1603336923
|
|
|
NM_032043.3(BRIP1):c.158G>A (p.Ser53Asn)
|
rs751182362
|
|
|
NM_032043.3(BRIP1):c.158_159delinsTT (p.Ser53Ile)
|
rs786202417
|
|
|
NM_032043.3(BRIP1):c.1591T>G (p.Phe531Val)
|
rs4988350
|
|
|
NM_032043.3(BRIP1):c.1592T>C (p.Phe531Ser)
|
rs878855139
|
|
|
NM_032043.3(BRIP1):c.1594A>T (p.Met532Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1596G>A (p.Met532Ile)
|
rs2145136186
|
|
|
NM_032043.3(BRIP1):c.15G>C (p.Trp5Cys)
|
rs2078973424
|
|
|
NM_032043.3(BRIP1):c.1601T>C (p.Leu534Pro)
|
|
|
|
NM_032043.3(BRIP1):c.1603G>C (p.Asp535His)
|
|
|
|
NM_032043.3(BRIP1):c.1609C>G (p.Leu537Val)
|
rs864622208
|
|
|
NM_032043.3(BRIP1):c.1610T>C (p.Leu537Pro)
|
rs1567816751
|
|
|
NM_032043.3(BRIP1):c.1612T>C (p.Phe538Leu)
|
rs1603336907
|
|
|
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys)
|
rs199616792
|
|
|
NM_032043.3(BRIP1):c.1620A>G (p.Gln540=)
|
rs2145135063
|
|
|
NM_032043.3(BRIP1):c.1623T>G (p.Asn541Lys)
|
rs786203897
|
|
|
NM_032043.3(BRIP1):c.1626_1628del (p.Ser542del)
|
rs1555603461
|
|
|
NM_032043.3(BRIP1):c.1628+4del
|
|
|
|
NM_032043.3(BRIP1):c.1628+6T>C
|
rs1567816699
|
|
|
NM_032043.3(BRIP1):c.1628+6T>G
|
rs1567816699
|
|
|
NM_032043.3(BRIP1):c.1629-3T>G
|
|
|
|
NM_032043.3(BRIP1):c.1637A>G (p.Asp546Gly)
|
rs2077612367
|
|
|
NM_032043.3(BRIP1):c.1639G>T (p.Asp547Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.1640A>G (p.Asp547Gly)
|
rs2077612324
|
|
|
NM_032043.3(BRIP1):c.1643A>C (p.Tyr548Ser)
|
rs587782405
|
|
|
NM_032043.3(BRIP1):c.1643A>G (p.Tyr548Cys)
|
rs587782405
|
|
|
NM_032043.3(BRIP1):c.164C>T (p.Ala55Val)
|
rs1603367684
|
|
|
NM_032043.3(BRIP1):c.1651G>C (p.Ala551Pro)
|
rs766302517
|
|
|
NM_032043.3(BRIP1):c.1652C>T (p.Ala551Val)
|
rs375246789
|
|
|
NM_032043.3(BRIP1):c.1654A>G (p.Ile552Val)
|
rs1603334819
|
|
|
NM_032043.3(BRIP1):c.1659A>C (p.Gln553His)
|
rs876660693
|
|
|
NM_032043.3(BRIP1):c.1661A>T (p.Gln554Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1662G>C (p.Gln554His)
|
rs1060501749
|
|
|
NM_032043.3(BRIP1):c.1663A>G (p.Thr555Ala)
|
rs2077611229
|
|
|
NM_032043.3(BRIP1):c.1666T>C (p.Tyr556His)
|
rs752797989
|
|
|
NM_032043.3(BRIP1):c.1669T>C (p.Ser557Pro)
|
rs2145096206
|
|
|
NM_032043.3(BRIP1):c.1676C>G (p.Thr559Arg)
|
rs876658266
|
|
|
NM_032043.3(BRIP1):c.1678A>C (p.Asn560His)
|
|
|
|
NM_032043.3(BRIP1):c.1679A>T (p.Asn560Ile)
|
rs1555602592
|
|
|
NM_032043.3(BRIP1):c.1682A>C (p.Gln561Pro)
|
rs1603334713
|
|
|
NM_032043.3(BRIP1):c.1683G>C (p.Gln561His)
|
rs1209325148
|
|
|
NM_032043.3(BRIP1):c.1683G>T (p.Gln561His)
|
|
|
|
NM_032043.3(BRIP1):c.1685T>C (p.Ile562Thr)
|
rs2077610488
|
|
|
NM_032043.3(BRIP1):c.1687G>A (p.Asp563Asn)
|
rs2145095363
|
|
|
NM_032043.3(BRIP1):c.1687_1689del (p.Asp563del)
|
rs780590493
|
|
|
NM_032043.3(BRIP1):c.1688A>T (p.Asp563Val)
|
rs577768294
|
|
|
NM_032043.3(BRIP1):c.1691T>C (p.Ile564Thr)
|
rs755635967
|
|
|
NM_032043.3(BRIP1):c.1694C>T (p.Ser565Leu)
|
rs1603334619
|
|
|
NM_032043.3(BRIP1):c.1697A>C (p.Asp566Ala)
|
rs1603334596
|
|
|
NM_032043.3(BRIP1):c.1697A>T (p.Asp566Val)
|
rs1603334596
|
|
|
NM_032043.3(BRIP1):c.1698C>G (p.Asp566Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1702A>T (p.Asn568Tyr)
|
rs2077609583
|
|
|
NM_032043.3(BRIP1):c.1705G>C (p.Gly569Arg)
|
rs1259933364
|
|
|
NM_032043.3(BRIP1):c.1705G>T (p.Gly569Trp)
|
rs1259933364
|
|
|
NM_032043.3(BRIP1):c.1706G>A (p.Gly569Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1706G>C (p.Gly569Ala)
|
rs373228183
|
|
|
NM_032043.3(BRIP1):c.1706G>T (p.Gly569Val)
|
rs373228183
|
|
|
NM_032043.3(BRIP1):c.1708TTG[1] (p.Leu571del)
|
rs754566378
|
|
|
NM_032043.3(BRIP1):c.1709T>C (p.Leu570Ser)
|
rs2077609103
|
|
|
NM_032043.3(BRIP1):c.1710G>C (p.Leu570Phe)
|
rs370087045
|
|
|
NM_032043.3(BRIP1):c.1713G>C (p.Leu571Phe)
|
|
|
|
NM_032043.3(BRIP1):c.1714G>A (p.Val572Ile)
|
rs1567813643
|
|
|
NM_032043.3(BRIP1):c.1714G>C (p.Val572Leu)
|
rs1567813643
|
|
|
NM_032043.3(BRIP1):c.1715T>G (p.Val572Gly)
|
rs1603334516
|
|
|
NM_032043.3(BRIP1):c.1720C>T (p.Pro574Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1721C>G (p.Pro574Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1725A>G (p.Lys575=)
|
rs1555602537
|
|
|
NM_032043.3(BRIP1):c.1727A>G (p.Asn576Ser)
|
rs587778132
|
|
|
NM_032043.3(BRIP1):c.172T>C (p.Cys58Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1730A>G (p.Lys577Arg)
|
rs1411869768
|
|
|
NM_032043.3(BRIP1):c.1731_1733del (p.Lys578del)
|
rs1355330975
|
|
|
NM_032043.3(BRIP1):c.1735C>A (p.Arg579Ser)
|
rs28997571
|
|
|
NM_032043.3(BRIP1):c.1738T>A (p.Ser580Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1739C>T (p.Ser580Leu)
|
rs1356014648
|
|
|
NM_032043.3(BRIP1):c.173G>C (p.Cys58Ser)
|
rs749920386
|
|
|
NM_032043.3(BRIP1):c.1744C>A (p.Gln582Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1751C>A (p.Thr584Asn)
|
rs2145092153
|
|
|
NM_032043.3(BRIP1):c.1751C>G (p.Thr584Ser)
|
rs2145092153
|
|
|
NM_032043.3(BRIP1):c.1753G>A (p.Ala585Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1753G>C (p.Ala585Pro)
|
rs1603334364
|
|
|
NM_032043.3(BRIP1):c.1756G>C (p.Val586Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1759C>A (p.His587Asn)
|
rs876660519
|
|
|
NM_032043.3(BRIP1):c.1760A>T (p.His587Leu)
|
rs876660646
|
|
|
NM_032043.3(BRIP1):c.1762G>A (p.Val588Met)
|
rs876660355
|
|
|
NM_032043.3(BRIP1):c.1766T>G (p.Leu589Arg)
|
|
|
|
NM_032043.3(BRIP1):c.176C>G (p.Ser59Cys)
|
|
|
|
NM_032043.3(BRIP1):c.176C>T (p.Ser59Phe)
|
rs2078949491
|
|
|
NM_032043.3(BRIP1):c.1770C>A (p.Asn590Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1770C>G (p.Asn590Lys)
|
rs2077606990
|
|
|
NM_032043.3(BRIP1):c.1774T>C (p.Trp592Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1774T>G (p.Trp592Gly)
|
rs587780231
|
|
|
NM_032043.3(BRIP1):c.1776G>T (p.Trp592Cys)
|
rs753023295
|
|
|
NM_032043.3(BRIP1):c.1780T>G (p.Leu594Val)
|
rs876658256
|
|
|
NM_032043.3(BRIP1):c.1781T>C (p.Leu594Ser)
|
rs587781559
|
|
|
NM_032043.3(BRIP1):c.1782A>T (p.Leu594Phe)
|
rs1567813260
|
|
|
NM_032043.3(BRIP1):c.1787C>T (p.Pro596Leu)
|
rs864622155
|
|
|
NM_032043.3(BRIP1):c.1789G>T (p.Ala597Ser)
|
rs2077606219
|
|
|
NM_032043.3(BRIP1):c.178G>A (p.Ala60Thr)
|
rs1555618394
|
|
|
NM_032043.3(BRIP1):c.178G>C (p.Ala60Pro)
|
rs1555618394
|
|
|
NM_032043.3(BRIP1):c.1790C>G (p.Ala597Gly)
|
rs751667661
|
|
|
NM_032043.3(BRIP1):c.1794+13T>G
|
rs2145089397
|
|
|
NM_032043.3(BRIP1):c.1794+2dup
|
rs2077605901
|
|
|
NM_032043.3(BRIP1):c.1794+6C>T
|
rs1429375125
|
|
|
NM_032043.3(BRIP1):c.1795-16T>G
|
|
|
|
NM_032043.3(BRIP1):c.1795-17A>G
|
rs1567812766
|
|
|
NM_032043.3(BRIP1):c.1795G>A (p.Ala599Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1795G>T (p.Ala599Ser)
|
rs2145081985
|
|
|
NM_032043.3(BRIP1):c.1796C>T (p.Ala599Val)
|
|
|
|
NM_032043.3(BRIP1):c.1799T>A (p.Phe600Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.17C>T (p.Ser6Phe)
|
rs1603368484
|
|
|
NM_032043.3(BRIP1):c.1805A>G (p.Asp602Gly)
|
rs1555602221
|
|
|
NM_032043.3(BRIP1):c.1808T>A (p.Ile603Asn)
|
rs1555602215
|
|
|
NM_032043.3(BRIP1):c.1808T>C (p.Ile603Thr)
|
rs1555602215
|
|
|
NM_032043.3(BRIP1):c.1814G>A (p.Gly605Asp)
|
rs2145081033
|
|
|
NM_032043.3(BRIP1):c.1816A>C (p.Lys606Gln)
|
rs1386348664
|
|
|
NM_032043.3(BRIP1):c.1819G>T (p.Val607Phe)
|
|
|
|
NM_032043.3(BRIP1):c.181T>G (p.Leu61Val)
|
|
|
|
NM_032043.3(BRIP1):c.1824G>C (p.Gln608His)
|
rs1567812636
|
|
|
NM_032043.3(BRIP1):c.1825A>G (p.Thr609Ala)
|
rs189758577
|
|
|
NM_032043.3(BRIP1):c.1826C>G (p.Thr609Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1826C>T (p.Thr609Ile)
|
|
|
|
NM_032043.3(BRIP1):c.1828A>G (p.Ile610Val)
|
|
|
|
NM_032043.3(BRIP1):c.1829T>C (p.Ile610Thr)
|
|
|
|
NM_032043.3(BRIP1):c.182T>C (p.Leu61Ser)
|
rs1567876917
|
|
|
NM_032043.3(BRIP1):c.1835T>C (p.Leu612Ser)
|
rs2077597358
|
|
|
NM_032043.3(BRIP1):c.1836G>T (p.Leu612Phe)
|
rs1464898721
|
|
|
NM_032043.3(BRIP1):c.1838C>T (p.Thr613Ile)
|
rs864622345
|
|
|
NM_032043.3(BRIP1):c.1840T>A (p.Ser614Thr)
|
rs2145079541
|
|
|
NM_032043.3(BRIP1):c.1841C>T (p.Ser614Phe)
|
|
|
|
NM_032043.3(BRIP1):c.1843G>A (p.Gly615Ser)
|
rs1555602203
|
|
|
NM_032043.3(BRIP1):c.1844G>A (p.Gly615Asp)
|
|
|
|
NM_032043.3(BRIP1):c.1844G>T (p.Gly615Val)
|
rs2077597056
|
|
|
NM_032043.3(BRIP1):c.1846A>G (p.Thr616Ala)
|
rs1397233707
|
|
|
NM_032043.3(BRIP1):c.1848A>G (p.Thr616=)
|
rs1603333238
|
|
|
NM_032043.3(BRIP1):c.184G>A (p.Ala62Thr)
|
rs786202861
|
|
|
NM_032043.3(BRIP1):c.184G>T (p.Ala62Ser)
|
rs786202861
|
|
|
NM_032043.3(BRIP1):c.1850T>C (p.Leu617Ser)
|
rs1064794095
|
|
|
NM_032043.3(BRIP1):c.1852T>A (p.Ser618Thr)
|
rs876660191
|
|
|
NM_032043.3(BRIP1):c.1852T>C (p.Ser618Pro)
|
rs876660191
|
|
|
NM_032043.3(BRIP1):c.1855C>G (p.Pro619Ala)
|
rs2077596661
|
|
|
NM_032043.3(BRIP1):c.1855C>T (p.Pro619Ser)
|
rs2077596661
|
|
|
NM_032043.3(BRIP1):c.1858A>G (p.Met620Val)
|
rs876658346
|
|
|
NM_032043.3(BRIP1):c.1859T>A (p.Met620Lys)
|
rs1555602185
|
|
|
NM_032043.3(BRIP1):c.1859T>C (p.Met620Thr)
|
rs1555602185
|
|
|
NM_032043.3(BRIP1):c.185C>T (p.Ala62Val)
|
rs2078949086
|
|
|
NM_032043.3(BRIP1):c.1861A>G (p.Lys621Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1864T>C (p.Ser622Pro)
|
rs2077596367
|
|
|
NM_032043.3(BRIP1):c.1865C>T (p.Ser622Phe)
|
rs2077596312
|
|
|
NM_032043.3(BRIP1):c.1867T>A (p.Phe623Ile)
|
rs864622438
|
|
|
NM_032043.3(BRIP1):c.1867T>C (p.Phe623Leu)
|
rs864622438
|
|
|
NM_032043.3(BRIP1):c.1868T>G (p.Phe623Cys)
|
rs2145077916
|
|
|
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu)
|
rs587781321
|
|
|
NM_032043.3(BRIP1):c.1874C>T (p.Ser625Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1877A>T (p.Glu626Val)
|
rs2145077565
|
|
|
NM_032043.3(BRIP1):c.1879C>T (p.Leu627Phe)
|
rs2077595930
|
|
|
NM_032043.3(BRIP1):c.187T>A (p.Trp63Arg)
|
rs1603367652
|
|
|
NM_032043.3(BRIP1):c.1880T>A (p.Leu627His)
|
rs1567812479
|
|
|
NM_032043.3(BRIP1):c.1880T>G (p.Leu627Arg)
|
rs1567812479
|
|
|
NM_032043.3(BRIP1):c.1882G>A (p.Gly628Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1883G>A (p.Gly628Asp)
|
rs1064794907
|
|
|
NM_032043.3(BRIP1):c.1883G>T (p.Gly628Val)
|
rs1064794907
|
|
|
NM_032043.3(BRIP1):c.1888A>G (p.Thr630Ala)
|
rs2077595608
|
|
|
NM_032043.3(BRIP1):c.1889C>A (p.Thr630Lys)
|
rs780407946
|
|
|
NM_032043.3(BRIP1):c.1894A>G (p.Thr632Ala)
|
rs1555602149
|
|
|
NM_032043.3(BRIP1):c.1894A>T (p.Thr632Ser)
|
rs1555602149
|
|
|
NM_032043.3(BRIP1):c.1895C>G (p.Thr632Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1897A>C (p.Ile633Leu)
|
rs765314472
|
|
|
NM_032043.3(BRIP1):c.1898T>A (p.Ile633Asn)
|
rs587780232
|
|
|
NM_032043.3(BRIP1):c.1898T>C (p.Ile633Thr)
|
rs587780232
|
|
|
NM_032043.3(BRIP1):c.1901A>G (p.Gln634Arg)
|
rs2145076105
|
|
|
NM_032043.3(BRIP1):c.1902G>C (p.Gln634His)
|
rs1060501748
|
|
|
NM_032043.3(BRIP1):c.1904T>C (p.Leu635Pro)
|
rs2145075890
|
|
|
NM_032043.3(BRIP1):c.1906G>A (p.Glu636Lys)
|
rs1060501769
|
|
|
NM_032043.3(BRIP1):c.1909G>C (p.Ala637Pro)
|
rs541203428
|
|
|
NM_032043.3(BRIP1):c.1912A>G (p.Asn638Asp)
|
rs2077594670
|
|
|
NM_032043.3(BRIP1):c.1915C>A (p.His639Asn)
|
rs2145075261
|
|
|
NM_032043.3(BRIP1):c.1916A>G (p.His639Arg)
|
rs1603333030
|
|
|
NM_032043.3(BRIP1):c.1918A>G (p.Ile640Val)
|
rs2145075101
|
|
|
NM_032043.3(BRIP1):c.1921A>T (p.Ile641Phe)
|
rs1603333007
|
|
|
NM_032043.3(BRIP1):c.1927A>C (p.Asn643His)
|
rs2145074666
|
|
|
NM_032043.3(BRIP1):c.1930T>A (p.Ser644Thr)
|
rs2077594282
|
|
|
NM_032043.3(BRIP1):c.1933C>G (p.Gln645Glu)
|
rs2145074343
|
|
|
NM_032043.3(BRIP1):c.1935+4_1935+7del
|
rs766199221
|
|
|
NM_032043.3(BRIP1):c.1935+6T>C
|
rs1555602118
|
|
|
NM_032043.3(BRIP1):c.1935G>A (p.Gln645=)
|
rs1254051324
|
|
|
NM_032043.3(BRIP1):c.1936-12T>G
|
|
|
|
NM_032043.3(BRIP1):c.1936-12_1936-10del
|
rs2145034941
|
|
|
NM_032043.3(BRIP1):c.1936-4C>G
|
rs587780552
|
|
|
NM_032043.3(BRIP1):c.1936-5_1936-4delinsGT
|
rs587781481
|
|
|
NM_032043.3(BRIP1):c.1939T>G (p.Trp647Gly)
|
|
|
|
NM_032043.3(BRIP1):c.193C>A (p.Gln65Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)
|
rs786202760
|
|
|
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys)
|
rs786202760
|
|
|
NM_032043.3(BRIP1):c.1943T>G (p.Val648Gly)
|
rs2077537998
|
|
|
NM_032043.3(BRIP1):c.1946G>A (p.Gly649Asp)
|
rs746066323
|
|
|
NM_032043.3(BRIP1):c.1946G>C (p.Gly649Ala)
|
rs746066323
|
|
|
NM_032043.3(BRIP1):c.1949C>T (p.Thr650Ile)
|
rs2077537888
|
|
|
NM_032043.3(BRIP1):c.194A>C (p.Gln65Pro)
|
rs1555618377
|
|
|
NM_032043.3(BRIP1):c.194_199del (p.Gln65_Ser66del)
|
rs2078948660
|
|
|
NM_032043.3(BRIP1):c.1951A>G (p.Ile651Val)
|
rs778867622
|
|
|
NM_032043.3(BRIP1):c.1958C>T (p.Ser653Leu)
|
rs756511744
|
|
|
NM_032043.3(BRIP1):c.195A>C (p.Gln65His)
|
rs141436143
|
|
|
NM_032043.3(BRIP1):c.1960G>A (p.Gly654Ser)
|
rs1567809053
|
|
|
NM_032043.3(BRIP1):c.1963C>T (p.Pro655Ser)
|
rs753036322
|
|
|
NM_032043.3(BRIP1):c.1964C>G (p.Pro655Arg)
|
rs767872111
|
|
|
NM_032043.3(BRIP1):c.1964C>T (p.Pro655Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1967A>G (p.Lys656Arg)
|
rs1322017079
|
|
|
NM_032043.3(BRIP1):c.1968G>T (p.Lys656Asn)
|
rs1064793415
|
|
|
NM_032043.3(BRIP1):c.1969G>A (p.Gly657Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1969G>T (p.Gly657Cys)
|
|
|
|
NM_032043.3(BRIP1):c.1970G>A (p.Gly657Asp)
|
rs1603328878
|
|
|
NM_032043.3(BRIP1):c.1970G>T (p.Gly657Val)
|
rs1603328878
|
|
|
NM_032043.3(BRIP1):c.1972C>G (p.Arg658Gly)
|
rs786203170
|
|
|
NM_032043.3(BRIP1):c.1973G>A (p.Arg658Gln)
|
rs759142191
|
|
|
NM_032043.3(BRIP1):c.1976A>G (p.Asn659Ser)
|
rs1213142447
|
|
|
NM_032043.3(BRIP1):c.1978C>T (p.Leu660Phe)
|
rs1060501746
|
|
|
NM_032043.3(BRIP1):c.197C>T (p.Ser66Phe)
|
rs2078948703
|
|
|
NM_032043.3(BRIP1):c.1982G>A (p.Cys661Tyr)
|
rs1160736353
|
|
|
NM_032043.3(BRIP1):c.1982G>T (p.Cys661Phe)
|
rs1160736353
|
|
|
NM_032043.3(BRIP1):c.1987A>G (p.Thr663Ala)
|
rs1567808933
|
|
|
NM_032043.3(BRIP1):c.1987A>T (p.Thr663Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1994A>T (p.Gln665Leu)
|
rs2145031487
|
|
|
NM_032043.3(BRIP1):c.1996A>C (p.Asn666His)
|
rs765816425
|
|
|
NM_032043.3(BRIP1):c.1996A>G (p.Asn666Asp)
|
rs765816425
|
|
|
NM_032043.3(BRIP1):c.199C>G (p.Leu67Val)
|
|
|
|
NM_032043.3(BRIP1):c.199C>T (p.Leu67Phe)
|
|
|
|
NM_032043.3(BRIP1):c.19G>A (p.Glu7Lys)
|
rs1246321339
|
|
|
NM_032043.3(BRIP1):c.1A>T (p.Met1Leu)
|
rs764585550
|
|
|
NM_032043.3(BRIP1):c.1_2del (p.Met1fs)
|
rs876661246
|
|
|
NM_032043.3(BRIP1):c.2009T>C (p.Phe670Ser)
|
rs1555601107
|
|
|
NM_032043.3(BRIP1):c.2012A>G (p.Glu671Gly)
|
rs587778135
|
|
|
NM_032043.3(BRIP1):c.2018A>G (p.Gln673Arg)
|
rs786203619
|
|
|
NM_032043.3(BRIP1):c.2020G>A (p.Asp674Asn)
|
rs1567808842
|
|
|
NM_032043.3(BRIP1):c.2021A>G (p.Asp674Gly)
|
rs1555601087
|
|
|
NM_032043.3(BRIP1):c.2022T>G (p.Asp674Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2024A>C (p.Glu675Ala)
|
rs1555601081
|
|
|
NM_032043.3(BRIP1):c.2026G>A (p.Val676Met)
|
rs2077535030
|
|
|
NM_032043.3(BRIP1):c.2029G>A (p.Gly677Arg)
|
rs1555601069
|
|
|
NM_032043.3(BRIP1):c.2029_2049del (p.Gly677_Val683del)
|
rs2077534052
|
|
|
NM_032043.3(BRIP1):c.202A>G (p.Ser68Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2030G>A (p.Gly677Glu)
|
rs1567808797
|
|
|
NM_032043.3(BRIP1):c.2032G>A (p.Ala678Thr)
|
rs2077534711
|
|
|
NM_032043.3(BRIP1):c.2033C>T (p.Ala678Val)
|
rs1211313166
|
|
|
NM_032043.3(BRIP1):c.2035C>T (p.Leu679Phe)
|
rs1555601056
|
|
|
NM_032043.3(BRIP1):c.2039T>C (p.Leu680Ser)
|
rs2077534379
|
|
|
NM_032043.3(BRIP1):c.2044T>C (p.Ser682Pro)
|
rs2077534218
|
|
|
NM_032043.3(BRIP1):c.205+4A>G
|
rs1060501753
|
|
|
NM_032043.3(BRIP1):c.205+4A>T
|
|
|
|
NM_032043.3(BRIP1):c.2050T>G (p.Cys684Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2051G>T (p.Cys684Phe)
|
rs2145028133
|
|
|
NM_032043.3(BRIP1):c.2054A>T (p.Gln685Leu)
|
rs2077533936
|
|
|
NM_032043.3(BRIP1):c.2055G>C (p.Gln685His)
|
rs1603328545
|
|
|
NM_032043.3(BRIP1):c.2055_2066del (p.Thr686_Gln689del)
|
rs2145027145
|
|
|
NM_032043.3(BRIP1):c.2059G>A (p.Val687Met)
|
rs876659296
|
|
|
NM_032043.3(BRIP1):c.205G>T (p.Gly69Trp)
|
rs372581879
|
|
|
NM_032043.3(BRIP1):c.206-15_206-14insTATTATAAATAGAC
|
|
|
|
NM_032043.3(BRIP1):c.206-1G>T
|
rs1555617934
|
|
|
NM_032043.3(BRIP1):c.2060T>C (p.Val687Ala)
|
rs1555601030
|
|
|
NM_032043.3(BRIP1):c.2063G>A (p.Ser688Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2066A>G (p.Gln689Arg)
|
rs2145027105
|
|
|
NM_032043.3(BRIP1):c.2068G>A (p.Gly690Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2069G>C (p.Gly690Ala)
|
|
|
|
NM_032043.3(BRIP1):c.2071A>G (p.Ile691Val)
|
rs587782356
|
|
|
NM_032043.3(BRIP1):c.2073T>G (p.Ile691Met)
|
|
|
|
NM_032043.3(BRIP1):c.2085G>T (p.Leu695Phe)
|
rs1555601008
|
|
|
NM_032043.3(BRIP1):c.2089T>C (p.Ser697Pro)
|
rs1603328426
|
|
|
NM_032043.3(BRIP1):c.208A>C (p.Lys70Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2097+5G>T
|
|
|
|
NM_032043.3(BRIP1):c.2097+6G>A
|
rs1603328382
|
|
|
NM_032043.3(BRIP1):c.2097G>A (p.Lys699=)
|
rs1060501754
|
|
|
NM_032043.3(BRIP1):c.2098T>C (p.Leu700=)
|
rs2077034962
|
|
|
NM_032043.3(BRIP1):c.209A>C (p.Lys70Thr)
|
rs957072709
|
|
|
NM_032043.3(BRIP1):c.209A>G (p.Lys70Arg)
|
rs957072709
|
|
|
NM_032043.3(BRIP1):c.2102T>C (p.Leu701Ser)
|
rs876658270
|
|
|
NM_032043.3(BRIP1):c.2105A>G (p.Glu702Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2107A>G (p.Lys703Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2108A>G (p.Lys703Arg)
|
rs756412722
|
|
|
NM_032043.3(BRIP1):c.2119C>A (p.Arg707Ser)
|
rs764803896
|
|
|
NM_032043.3(BRIP1):c.2119C>G (p.Arg707Gly)
|
rs764803896
|
|
|
NM_032043.3(BRIP1):c.211C>A (p.Pro71Thr)
|
|
|
|
NM_032043.3(BRIP1):c.211C>T (p.Pro71Ser)
|
rs876659680
|
|
|
NM_032043.3(BRIP1):c.2120G>A (p.Arg707His)
|
rs200313471
|
|
|
NM_032043.3(BRIP1):c.2120G>T (p.Arg707Leu)
|
rs200313471
|
|
|
NM_032043.3(BRIP1):c.2121T>G (p.Arg707=)
|
rs1481107855
|
|
|
NM_032043.3(BRIP1):c.2125C>G (p.Leu709Val)
|
rs2077033994
|
|
|
NM_032043.3(BRIP1):c.2126T>C (p.Leu709Pro)
|
rs1567781600
|
|
|
NM_032043.3(BRIP1):c.2128T>G (p.Ser710Ala)
|
rs1555591505
|
|
|
NM_032043.3(BRIP1):c.2131A>C (p.Thr711Pro)
|
rs760515227
|
|
|
NM_032043.3(BRIP1):c.2131A>G (p.Thr711Ala)
|
rs760515227
|
|
|
NM_032043.3(BRIP1):c.2135G>A (p.Gly712Asp)
|
rs1060501755
|
|
|
NM_032043.3(BRIP1):c.2135G>C (p.Gly712Ala)
|
rs1060501755
|
|
|
NM_032043.3(BRIP1):c.2135G>T (p.Gly712Val)
|
rs1060501755
|
|
|
NM_032043.3(BRIP1):c.2140T>C (p.Trp714Arg)
|
rs1603304614
|
|
|
NM_032043.3(BRIP1):c.2143C>G (p.His715Asp)
|
rs2077033211
|
|
|
NM_032043.3(BRIP1):c.2144A>G (p.His715Arg)
|
rs1253181575
|
|
|
NM_032043.3(BRIP1):c.2146A>G (p.Asn716Asp)
|
rs1060501745
|
|
|
NM_032043.3(BRIP1):c.214G>A (p.Ala72Thr)
|
rs1357919929
|
|
|
NM_032043.3(BRIP1):c.2150T>C (p.Leu717Pro)
|
rs2077032975
|
|
|
NM_032043.3(BRIP1):c.2151G>A (p.Leu717=)
|
rs2077032938
|
|
|
NM_032043.3(BRIP1):c.2154G>C (p.Glu718Asp)
|
|
|
|
NM_032043.3(BRIP1):c.2157G>A (p.Leu719=)
|
|
|
|
NM_032043.3(BRIP1):c.2157G>T (p.Leu719Phe)
|
rs2144699040
|
|
|
NM_032043.3(BRIP1):c.2158G>A (p.Val720Met)
|
rs1555591459
|
|
|
NM_032043.3(BRIP1):c.2158G>T (p.Val720Leu)
|
rs1555591459
|
|
|
NM_032043.3(BRIP1):c.2158_2160del (p.Val720del)
|
rs878855146
|
|
|
NM_032043.3(BRIP1):c.215C>A (p.Ala72Glu)
|
rs2078910927
|
|
|
NM_032043.3(BRIP1):c.2165C>T (p.Thr722Ile)
|
rs1603304593
|
|
|
NM_032043.3(BRIP1):c.2170A>C (p.Ile724Leu)
|
rs2077032430
|
|
|
NM_032043.3(BRIP1):c.2170A>G (p.Ile724Val)
|
|
|
|
NM_032043.3(BRIP1):c.2171T>C (p.Ile724Thr)
|
rs1312043643
|
|
|
NM_032043.3(BRIP1):c.2172T>G (p.Ile724Met)
|
rs777860588
|
|
|
NM_032043.3(BRIP1):c.2173G>A (p.Val725Ile)
|
rs1236873736
|
|
|
NM_032043.3(BRIP1):c.2174T>A (p.Val725Glu)
|
rs2144698131
|
|
|
NM_032043.3(BRIP1):c.2178A>C (p.Glu726Asp)
|
rs1555591425
|
|
|
NM_032043.3(BRIP1):c.2180C>A (p.Pro727Gln)
|
rs876659309
|
|
|
NM_032043.3(BRIP1):c.2180C>T (p.Pro727Leu)
|
rs876659309
|
|
|
NM_032043.3(BRIP1):c.2182C>G (p.Gln728Glu)
|
rs1296238058
|
|
|
NM_032043.3(BRIP1):c.2183A>T (p.Gln728Leu)
|
rs2144697784
|
|
|
NM_032043.3(BRIP1):c.2184G>C (p.Gln728His)
|
rs2077031766
|
|
|
NM_032043.3(BRIP1):c.2185G>A (p.Gly729Arg)
|
rs1555591407
|
|
|
NM_032043.3(BRIP1):c.2186G>A (p.Gly729Glu)
|
rs1404094308
|
|
|
NM_032043.3(BRIP1):c.2191G>A (p.Glu731Lys)
|
rs1603304544
|
|
|
NM_032043.3(BRIP1):c.2194A>G (p.Lys732Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2198C>T (p.Thr733Ile)
|
rs2077031435
|
|
|
NM_032043.3(BRIP1):c.2200A>C (p.Asn734His)
|
rs2144697244
|
|
|
NM_032043.3(BRIP1):c.2201A>G (p.Asn734Ser)
|
rs2144697198
|
|
|
NM_032043.3(BRIP1):c.2205T>G (p.Phe735Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2206G>A (p.Asp736Asn)
|
rs2144697004
|
|
|
NM_032043.3(BRIP1):c.2208T>G (p.Asp736Glu)
|
rs2077031257
|
|
|
NM_032043.3(BRIP1):c.220G>C (p.Glu74Gln)
|
rs2145831329
|
|
|
NM_032043.3(BRIP1):c.2216T>C (p.Leu739Pro)
|
rs587780234
|
|
|
NM_032043.3(BRIP1):c.2216T>G (p.Leu739Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2218C>G (p.Gln740Glu)
|
rs1555591361
|
|
|
NM_032043.3(BRIP1):c.2221G>A (p.Val741Met)
|
rs1308293137
|
|
|
NM_032043.3(BRIP1):c.2221G>C (p.Val741Leu)
|
rs1308293137
|
|
|
NM_032043.3(BRIP1):c.2222T>C (p.Val741Ala)
|
rs1555591357
|
|
|
NM_032043.3(BRIP1):c.2225A>C (p.Tyr742Ser)
|
rs1555591351
|
|
|
NM_032043.3(BRIP1):c.2227T>G (p.Tyr743Asp)
|
rs2144695971
|
|
|
NM_032043.3(BRIP1):c.2228A>C (p.Tyr743Ser)
|
rs750033391
|
|
|
NM_032043.3(BRIP1):c.2228A>G (p.Tyr743Cys)
|
|
|
|
NM_032043.3(BRIP1):c.222G>C (p.Glu74Asp)
|
|
|
|
NM_032043.3(BRIP1):c.2230G>C (p.Asp744His)
|
rs2144695830
|
|
|
NM_032043.3(BRIP1):c.2232C>G (p.Asp744Glu)
|
rs374362388
|
|
|
NM_032043.3(BRIP1):c.2234C>T (p.Ala745Val)
|
rs2144695654
|
|
|
NM_032043.3(BRIP1):c.223G>T (p.Gly75Cys)
|
rs1317680188
|
|
|
NM_032043.3(BRIP1):c.2248G>A (p.Gly750Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2249G>A (p.Gly750Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2249G>T (p.Gly750Val)
|
rs764061653
|
|
|
NM_032043.3(BRIP1):c.2251G>C (p.Glu751Gln)
|
rs760438320
|
|
|
NM_032043.3(BRIP1):c.2254A>C (p.Lys752Gln)
|
rs876659651
|
|
|
NM_032043.3(BRIP1):c.2255A>G (p.Lys752Arg)
|
rs876660016
|
|
|
NM_032043.3(BRIP1):c.2256A>G (p.Lys752=)
|
|
|
|
NM_032043.3(BRIP1):c.2257+3A>G
|
rs2144694655
|
|
|
NM_032043.3(BRIP1):c.2257G>C (p.Asp753His)
|
rs1603304458
|
|
|
NM_032043.3(BRIP1):c.2258-3A>C
|
rs786203561
|
|
|
NM_032043.3(BRIP1):c.2258-3A>G
|
rs786203561
|
|
|
NM_032043.3(BRIP1):c.2258-5T>G
|
rs1555590588
|
|
|
NM_032043.3(BRIP1):c.2258-7G>A
|
rs1060501777
|
|
|
NM_032043.3(BRIP1):c.2259T>A (p.Asp753Glu)
|
rs2077009355
|
|
|
NM_032043.3(BRIP1):c.2263G>A (p.Ala755Thr)
|
|
|
|
NM_032043.3(BRIP1):c.2264C>G (p.Ala755Gly)
|
rs1555590565
|
|
|
NM_032043.3(BRIP1):c.2264C>T (p.Ala755Val)
|
rs1555590565
|
|
|
NM_032043.3(BRIP1):c.226G>T (p.Val76Leu)
|
rs769573395
|
|
|
NM_032043.3(BRIP1):c.2272G>A (p.Val758Ile)
|
rs1192826909
|
|
|
NM_032043.3(BRIP1):c.2272G>T (p.Val758Leu)
|
rs1192826909
|
|
|
NM_032043.3(BRIP1):c.2276C>G (p.Ala759Gly)
|
rs2144679532
|
|
|
NM_032043.3(BRIP1):c.2282G>A (p.Cys761Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2282G>C (p.Cys761Ser)
|
rs1567779745
|
|
|
NM_032043.3(BRIP1):c.2284_2285delinsTA (p.Arg762Tyr)
|
rs1555590511
|
|
|
NM_032043.3(BRIP1):c.2285G>T (p.Arg762Leu)
|
rs200960251
|
|
|
NM_032043.3(BRIP1):c.2290A>G (p.Lys764Glu)
|
rs1603303860
|
|
|
NM_032043.3(BRIP1):c.2292A>G (p.Lys764=)
|
rs2144678763
|
|
|
NM_032043.3(BRIP1):c.2296A>G (p.Ser766Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2297G>A (p.Ser766Asn)
|
rs2144678538
|
|
|
NM_032043.3(BRIP1):c.2301G>C (p.Glu767Asp)
|
rs369434185
|
|
|
NM_032043.3(BRIP1):c.2302G>A (p.Gly768Ser)
|
rs2077008054
|
|
|
NM_032043.3(BRIP1):c.2303G>T (p.Gly768Val)
|
rs1603303846
|
|
|
NM_032043.3(BRIP1):c.2303_2308del (p.Gly768_Leu769del)
|
|
|
|
NM_032043.3(BRIP1):c.2308G>A (p.Asp770Asn)
|
rs2077007860
|
|
|
NM_032043.3(BRIP1):c.2308G>T (p.Asp770Tyr)
|
rs2077007860
|
|
|
NM_032043.3(BRIP1):c.2309A>G (p.Asp770Gly)
|
rs1555590457
|
|
|
NM_032043.3(BRIP1):c.2311T>C (p.Phe771Leu)
|
rs2144677768
|
|
|
NM_032043.3(BRIP1):c.2313C>G (p.Phe771Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2315C>T (p.Ser772Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2317G>A (p.Asp773Asn)
|
rs146091205
|
|
|
NM_032043.3(BRIP1):c.2321A>G (p.Asp774Gly)
|
rs992780498
|
|
|
NM_032043.3(BRIP1):c.2321A>T (p.Asp774Val)
|
|
|
|
NM_032043.3(BRIP1):c.2322C>A (p.Asp774Glu)
|
rs1057520434
|
|
|
NM_032043.3(BRIP1):c.2325T>G (p.Asn775Lys)
|
rs375146450
|
|
|
NM_032043.3(BRIP1):c.2326G>A (p.Ala776Thr)
|
rs2077007192
|
|
|
NM_032043.3(BRIP1):c.2327C>A (p.Ala776Asp)
|
rs1555590421
|
|
|
NM_032043.3(BRIP1):c.2329C>G (p.Arg777Gly)
|
rs768555161
|
|
|
NM_032043.3(BRIP1):c.2329C>T (p.Arg777Cys)
|
rs768555161
|
|
|
NM_032043.3(BRIP1):c.232G>A (p.Glu78Lys)
|
rs2145830931
|
|
|
NM_032043.3(BRIP1):c.2330G>C (p.Arg777Pro)
|
rs747568830
|
|
|
NM_032043.3(BRIP1):c.2332G>A (p.Ala778Thr)
|
rs2144676807
|
|
|
NM_032043.3(BRIP1):c.2332G>T (p.Ala778Ser)
|
rs2144676807
|
|
|
NM_032043.3(BRIP1):c.2333C>T (p.Ala778Val)
|
rs2077006983
|
|
|
NM_032043.3(BRIP1):c.2335G>A (p.Val779Ile)
|
rs1603303802
|
|
|
NM_032043.3(BRIP1):c.2335G>C (p.Val779Leu)
|
rs1603303802
|
|
|
NM_032043.3(BRIP1):c.2335G>T (p.Val779Phe)
|
rs1603303802
|
|
|
NM_032043.3(BRIP1):c.2336T>A (p.Val779Asp)
|
rs1567779485
|
|
|
NM_032043.3(BRIP1):c.2338A>G (p.Ile780Val)
|
rs776131401
|
|
|
NM_032043.3(BRIP1):c.2339T>A (p.Ile780Lys)
|
rs1467232177
|
|
|
NM_032043.3(BRIP1):c.2339T>C (p.Ile780Thr)
|
rs1467232177
|
|
|
NM_032043.3(BRIP1):c.2339T>G (p.Ile780Arg)
|
rs1467232177
|
|
|
NM_032043.3(BRIP1):c.2345T>A (p.Ile782Lys)
|
|
|
|
NM_032043.3(BRIP1):c.2348G>A (p.Gly783Glu)
|
rs2077006387
|
|
|
NM_032043.3(BRIP1):c.2349A>T (p.Gly783=)
|
rs863224799
|
|
|
NM_032043.3(BRIP1):c.2350A>G (p.Ile784Val)
|
rs1603303771
|
|
|
NM_032043.3(BRIP1):c.2354C>T (p.Pro785Leu)
|
rs2144675861
|
|
|
NM_032043.3(BRIP1):c.2356T>C (p.Phe786Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2360C>G (p.Pro787Arg)
|
rs1555590356
|
|
|
NM_032043.3(BRIP1):c.2365G>T (p.Val789Leu)
|
rs876661097
|
|
|
NM_032043.3(BRIP1):c.2366T>C (p.Val789Ala)
|
rs1060501728
|
|
|
NM_032043.3(BRIP1):c.236A>C (p.Lys79Thr)
|
rs2145830866
|
|
|
NM_032043.3(BRIP1):c.2372A>G (p.Asp791Gly)
|
rs876658934
|
|
|
NM_032043.3(BRIP1):c.2372A>T (p.Asp791Val)
|
rs876658934
|
|
|
NM_032043.3(BRIP1):c.2373T>A (p.Asp791Glu)
|
rs876659615
|
|
|
NM_032043.3(BRIP1):c.2374C>A (p.Leu792Ile)
|
rs2144675104
|
|
|
NM_032043.3(BRIP1):c.2375T>A (p.Leu792Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2379+17T>G
|
rs2144674490
|
|
|
NM_032043.3(BRIP1):c.2379+4G>A
|
|
|
|
NM_032043.3(BRIP1):c.2380-10A>G
|
rs2061858108
|
|
|
NM_032043.3(BRIP1):c.2380-20A>G
|
rs977667900
|
|
|
NM_032043.3(BRIP1):c.2380-7T>G
|
rs2144384592
|
|
|
NM_032043.3(BRIP1):c.2380G>T (p.Val794Phe)
|
rs1261005517
|
|
|
NM_032043.3(BRIP1):c.2383G>A (p.Glu795Lys)
|
|
|
|
NM_032043.3(BRIP1):c.2384A>G (p.Glu795Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2386C>G (p.Leu796Val)
|
|
|
|
NM_032043.3(BRIP1):c.2387T>C (p.Leu796Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2398T>C (p.Tyr800His)
|
rs1305107535
|
|
|
NM_032043.3(BRIP1):c.2399A>G (p.Tyr800Cys)
|
rs2061856846
|
|
|
NM_032043.3(BRIP1):c.23A>G (p.Tyr8Cys)
|
|
|
|
NM_032043.3(BRIP1):c.2401A>G (p.Asn801Asp)
|
rs1408016407
|
|
|
NM_032043.3(BRIP1):c.2404G>A (p.Asp802Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2405A>G (p.Asp802Gly)
|
rs876660273
|
|
|
NM_032043.3(BRIP1):c.2406C>A (p.Asp802Glu)
|
rs748981650
|
|
|
NM_032043.3(BRIP1):c.2407C>T (p.His803Tyr)
|
rs2061856155
|
|
|
NM_032043.3(BRIP1):c.2410C>T (p.His804Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2411A>G (p.His804Arg)
|
rs777277034
|
|
|
NM_032043.3(BRIP1):c.2416A>G (p.Lys806Glu)
|
rs747622456
|
|
|
NM_032043.3(BRIP1):c.2422A>G (p.Arg808Gly)
|
rs587780237
|
|
|
NM_032043.3(BRIP1):c.2425G>A (p.Gly809Ser)
|
rs1555580892
|
|
|
NM_032043.3(BRIP1):c.2426G>A (p.Gly809Asp)
|
|
|
|
NM_032043.3(BRIP1):c.2426G>T (p.Gly809Val)
|
rs1555580886
|
|
|
NM_032043.3(BRIP1):c.2429T>C (p.Leu810Pro)
|
rs2061855206
|
|
|
NM_032043.3(BRIP1):c.2429T>G (p.Leu810Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2431C>G (p.Leu811Val)
|
rs2144381821
|
|
|
NM_032043.3(BRIP1):c.2434C>A (p.Pro812Thr)
|
rs779915262
|
|
|
NM_032043.3(BRIP1):c.2435C>A (p.Pro812His)
|
rs876659410
|
|
|
NM_032043.3(BRIP1):c.2435C>G (p.Pro812Arg)
|
rs876659410
|
|
|
NM_032043.3(BRIP1):c.2436T>A (p.Pro812=)
|
rs2061854737
|
|
|
NM_032043.3(BRIP1):c.2437G>C (p.Gly813Arg)
|
rs2144381512
|
|
|
NM_032043.3(BRIP1):c.243A>C (p.Glu81Asp)
|
|
|
|
NM_032043.3(BRIP1):c.2440C>A (p.Arg814Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2440C>G (p.Arg814Gly)
|
rs201869624
|
|
|
NM_032043.3(BRIP1):c.2444A>G (p.Gln815Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2446T>C (p.Trp816Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2446T>G (p.Trp816Gly)
|
rs1338241931
|
|
|
NM_032043.3(BRIP1):c.2448G>T (p.Trp816Cys)
|
rs1064795352
|
|
|
NM_032043.3(BRIP1):c.2450A>G (p.Tyr817Cys)
|
rs1555580828
|
|
|
NM_032043.3(BRIP1):c.2452G>A (p.Glu818Lys)
|
rs1555580819
|
|
|
NM_032043.3(BRIP1):c.2452G>C (p.Glu818Gln)
|
rs1555580819
|
|
|
NM_032043.3(BRIP1):c.245T>A (p.Val82Glu)
|
rs876659594
|
|
|
NM_032043.3(BRIP1):c.245T>G (p.Val82Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2462C>T (p.Ala821Val)
|
rs876658697
|
|
|
NM_032043.3(BRIP1):c.2465A>G (p.Tyr822Cys)
|
rs587781572
|
|
|
NM_032043.3(BRIP1):c.2468G>A (p.Arg823Lys)
|
rs45479297
|
|
|
NM_032043.3(BRIP1):c.2468G>T (p.Arg823Met)
|
rs45479297
|
|
|
NM_032043.3(BRIP1):c.2470G>T (p.Ala824Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2478C>G (p.Asn826Lys)
|
rs774939280
|
|
|
NM_032043.3(BRIP1):c.2479C>A (p.Gln827Lys)
|
rs786203898
|
|
|
NM_032043.3(BRIP1):c.2479C>G (p.Gln827Glu)
|
rs786203898
|
|
|
NM_032043.3(BRIP1):c.2481G>C (p.Gln827His)
|
rs2061853111
|
|
|
NM_032043.3(BRIP1):c.2483C>G (p.Ala828Gly)
|
rs2061853042
|
|
|
NM_032043.3(BRIP1):c.2488G>A (p.Gly830Ser)
|
rs876659062
|
|
|
NM_032043.3(BRIP1):c.2491A>G (p.Arg831Gly)
|
rs2144378901
|
|
|
NM_032043.3(BRIP1):c.2492+3A>C
|
rs1555580758
|
|
|
NM_032043.3(BRIP1):c.2492+3A>T
|
|
|
|
NM_032043.3(BRIP1):c.2492+5G>C
|
rs763222019
|
|
|
NM_032043.3(BRIP1):c.2492G>A (p.Arg831Lys)
|
rs771382903
|
|
|
NM_032043.3(BRIP1):c.2493-17_2493-16del
|
|
|
|
NM_032043.3(BRIP1):c.2493-3T>G
|
rs2061479378
|
|
|
NM_032043.3(BRIP1):c.2494T>C (p.Cys832Arg)
|
rs768222842
|
|
|
NM_032043.3(BRIP1):c.2494T>G (p.Cys832Gly)
|
rs768222842
|
|
|
NM_032043.3(BRIP1):c.2495G>A (p.Cys832Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2495G>T (p.Cys832Phe)
|
|
|
|
NM_032043.3(BRIP1):c.2497A>G (p.Ile833Val)
|
rs199831248
|
|
|
NM_032043.3(BRIP1):c.2498T>C (p.Ile833Thr)
|
rs876660936
|
|
|
NM_032043.3(BRIP1):c.2500A>G (p.Arg834Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2501G>A (p.Arg834Lys)
|
|
|
|
NM_032043.3(BRIP1):c.2504A>G (p.His835Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2505C>G (p.His835Gln)
|
rs775547651
|
|
|
NM_032043.3(BRIP1):c.2507G>T (p.Arg836Ile)
|
rs1060501736
|
|
|
NM_032043.3(BRIP1):c.2508A>C (p.Arg836Ser)
|
rs2061478740
|
|
|
NM_032043.3(BRIP1):c.2510A>G (p.Asn837Ser)
|
rs1555574810
|
|
|
NM_032043.3(BRIP1):c.2512G>C (p.Asp838His)
|
|
|
|
NM_032043.3(BRIP1):c.2513A>T (p.Asp838Val)
|
rs1567737801
|
|
|
NM_032043.3(BRIP1):c.2515T>A (p.Trp839Arg)
|
rs1555574807
|
|
|
NM_032043.3(BRIP1):c.2515T>G (p.Trp839Gly)
|
rs1555574807
|
|
|
NM_032043.3(BRIP1):c.2519G>A (p.Gly840Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2521G>A (p.Ala841Thr)
|
rs1555574790
|
|
|
NM_032043.3(BRIP1):c.2524C>G (p.Leu842Val)
|
rs786201802
|
|
|
NM_032043.3(BRIP1):c.2524C>T (p.Leu842Phe)
|
rs786201802
|
|
|
NM_032043.3(BRIP1):c.2525T>C (p.Leu842Pro)
|
rs1060501751
|
|
|
NM_032043.3(BRIP1):c.2525T>G (p.Leu842Arg)
|
rs1060501751
|
|
|
NM_032043.3(BRIP1):c.2528T>C (p.Ile843Thr)
|
rs996693020
|
|
|
NM_032043.3(BRIP1):c.2536G>C (p.Asp846His)
|
rs876659409
|
|
|
NM_032043.3(BRIP1):c.2537A>T (p.Asp846Val)
|
rs2144186438
|
|
|
NM_032043.3(BRIP1):c.2538T>G (p.Asp846Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2539G>A (p.Asp847Asn)
|
rs876659013
|
|
|
NM_032043.3(BRIP1):c.253T>C (p.Ser85Pro)
|
rs2145830182
|
|
|
NM_032043.3(BRIP1):c.2540A>G (p.Asp847Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2542C>A (p.Arg848Ser)
|
rs45572934
|
|
|
NM_032043.3(BRIP1):c.2542C>G (p.Arg848Gly)
|
rs45572934
|
|
|
NM_032043.3(BRIP1):c.2542C>T (p.Arg848Cys)
|
rs45572934
|
|
|
NM_032043.3(BRIP1):c.2545T>C (p.Phe849Leu)
|
rs786202317
|
|
|
NM_032043.3(BRIP1):c.2549G>A (p.Arg850Lys)
|
rs2061477480
|
|
|
NM_032043.3(BRIP1):c.2550G>T (p.Arg850Ser)
|
rs2144185990
|
|
|
NM_032043.3(BRIP1):c.2552A>G (p.Asn851Ser)
|
rs2061477443
|
|
|
NM_032043.3(BRIP1):c.2553T>G (p.Asn851Lys)
|
rs587781793
|
|
|
NM_032043.3(BRIP1):c.2556C>A (p.Asn852Lys)
|
|
|
|
NM_032043.3(BRIP1):c.2556C>G (p.Asn852Lys)
|
rs876658785
|
|
|
NM_032043.3(BRIP1):c.2558C>G (p.Pro853Arg)
|
rs1060501775
|
|
|
NM_032043.3(BRIP1):c.2558C>T (p.Pro853Leu)
|
rs1060501775
|
|
|
NM_032043.3(BRIP1):c.2561G>A (p.Ser854Asn)
|
rs2061477133
|
|
|
NM_032043.3(BRIP1):c.2561G>T (p.Ser854Ile)
|
rs2061477133
|
|
|
NM_032043.3(BRIP1):c.2562T>G (p.Ser854Arg)
|
rs1555574734
|
|
|
NM_032043.3(BRIP1):c.2563C>A (p.Arg855Ser)
|
rs146031731
|
|
|
NM_032043.3(BRIP1):c.2564G>T (p.Arg855Leu)
|
rs200894063
|
|
|
NM_032043.3(BRIP1):c.2566T>C (p.Tyr856His)
|
rs2061476921
|
|
|
NM_032043.3(BRIP1):c.256T>C (p.Cys86Arg)
|
rs1555617900
|
|
|
NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del)
|
rs587781388
|
|
|
NM_032043.3(BRIP1):c.2570T>C (p.Ile857Thr)
|
rs766432760
|
|
|
NM_032043.3(BRIP1):c.2574T>C (p.Ser858=)
|
rs1555574712
|
|
|
NM_032043.3(BRIP1):c.2575+2dup
|
rs1555574711
|
|
|
NM_032043.3(BRIP1):c.2575+6A>G
|
rs1555574710
|
|
|
NM_032043.3(BRIP1):c.2576-3T>C
|
rs2144119000
|
|
|
NM_032043.3(BRIP1):c.2578C>T (p.Leu860Phe)
|
rs1555573507
|
|
|
NM_032043.3(BRIP1):c.2581T>C (p.Ser861Pro)
|
rs1567732145
|
|
|
NM_032043.3(BRIP1):c.2584A>G (p.Lys862Glu)
|
rs1603277012
|
|
|
NM_032043.3(BRIP1):c.2586A>T (p.Lys862Asn)
|
rs745318756
|
|
|
NM_032043.3(BRIP1):c.2587T>C (p.Trp863Arg)
|
rs876660452
|
|
|
NM_032043.3(BRIP1):c.258_269del (p.Cys87_Cys90del)
|
rs730881648
|
|
|
NM_032043.3(BRIP1):c.2591T>C (p.Val864Ala)
|
rs1294102948
|
|
|
NM_032043.3(BRIP1):c.2594G>C (p.Arg865Pro)
|
rs781609846
|
|
|
NM_032043.3(BRIP1):c.2597A>T (p.Gln866Leu)
|
rs1603276987
|
|
|
NM_032043.3(BRIP1):c.2599C>A (p.Gln867Lys)
|
rs182028200
|
|
|
NM_032043.3(BRIP1):c.259T>A (p.Cys87Ser)
|
rs1555617897
|
|
|
NM_032043.3(BRIP1):c.259T>C (p.Cys87Arg)
|
rs1555617897
|
|
|
NM_032043.3(BRIP1):c.25A>G (p.Thr9Ala)
|
rs2078973246
|
|
|
NM_032043.3(BRIP1):c.2600A>C (p.Gln867Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2603T>C (p.Ile868Thr)
|
rs2061361421
|
|
|
NM_032043.3(BRIP1):c.2605C>G (p.Gln869Glu)
|
rs1060501766
|
|
|
NM_032043.3(BRIP1):c.2606A>C (p.Gln869Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2609A>C (p.His870Pro)
|
rs864622201
|
|
|
NM_032043.3(BRIP1):c.2609A>G (p.His870Arg)
|
|
|
|
NM_032043.3(BRIP1):c.260G>A (p.Cys87Tyr)
|
rs863224800
|
|
|
NM_032043.3(BRIP1):c.260G>C (p.Cys87Ser)
|
rs863224800
|
|
|
NM_032043.3(BRIP1):c.2610C>A (p.His870Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2610C>G (p.His870Gln)
|
rs2144117805
|
|
|
NM_032043.3(BRIP1):c.2611C>T (p.His871Tyr)
|
rs786203288
|
|
|
NM_032043.3(BRIP1):c.2613T>A (p.His871Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2614T>A (p.Ser872Thr)
|
rs2061360803
|
|
|
NM_032043.3(BRIP1):c.2615C>T (p.Ser872Leu)
|
rs587781964
|
|
|
NM_032043.3(BRIP1):c.2617A>T (p.Thr873Ser)
|
rs758444508
|
|
|
NM_032043.3(BRIP1):c.2624A>G (p.Glu875Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2626A>G (p.Ser876Gly)
|
rs1555573469
|
|
|
NM_032043.3(BRIP1):c.2627G>A (p.Ser876Asn)
|
rs750961319
|
|
|
NM_032043.3(BRIP1):c.2628T>A (p.Ser876Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2628T>G (p.Ser876Arg)
|
rs1032574757
|
|
|
NM_032043.3(BRIP1):c.2629G>A (p.Ala877Thr)
|
|
|
|
NM_032043.3(BRIP1):c.2629G>C (p.Ala877Pro)
|
rs1567731966
|
|
|
NM_032043.3(BRIP1):c.262T>G (p.Cys88Gly)
|
rs1555617890
|
|
|
NM_032043.3(BRIP1):c.2630C>T (p.Ala877Val)
|
rs1555573465
|
|
|
NM_032043.3(BRIP1):c.2635G>A (p.Glu879Lys)
|
rs1391013628
|
|
|
NM_032043.3(BRIP1):c.2636A>G (p.Glu879Gly)
|
rs1202665874
|
|
|
NM_032043.3(BRIP1):c.263G>A (p.Cys88Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2642T>C (p.Leu881Ser)
|
rs2061359874
|
|
|
NM_032043.3(BRIP1):c.2642T>G (p.Leu881Trp)
|
rs2061359874
|
|
|
NM_032043.3(BRIP1):c.2647G>A (p.Glu883Lys)
|
rs2061359691
|
|
|
NM_032043.3(BRIP1):c.2648A>G (p.Glu883Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2656A>C (p.Lys886Gln)
|
|
|
|
NM_032043.3(BRIP1):c.265G>A (p.Ala89Thr)
|
rs1555617884
|
|
|
NM_032043.3(BRIP1):c.265G>T (p.Ala89Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2661G>T (p.Lys887Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2662C>G (p.His888Asp)
|
rs757668121
|
|
|
NM_032043.3(BRIP1):c.2663A>C (p.His888Pro)
|
rs2061359359
|
|
|
NM_032043.3(BRIP1):c.2666A>G (p.Gln889Arg)
|
rs2061359230
|
|
|
NM_032043.3(BRIP1):c.2668A>C (p.Lys890Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2669A>G (p.Lys890Arg)
|
rs902432731
|
|
|
NM_032043.3(BRIP1):c.2671G>A (p.Val891Ile)
|
rs754224663
|
|
|
NM_032043.3(BRIP1):c.2672T>C (p.Val891Ala)
|
|
|
|
NM_032043.3(BRIP1):c.2674C>G (p.Leu892Val)
|
rs2144115542
|
|
|
NM_032043.3(BRIP1):c.2675T>A (p.Leu892His)
|
rs2061358811
|
|
|
NM_032043.3(BRIP1):c.2677A>C (p.Asn893His)
|
rs2144115463
|
|
|
NM_032043.3(BRIP1):c.2680G>A (p.Val894Ile)
|
rs1603276880
|
|
|
NM_032043.3(BRIP1):c.2684C>T (p.Ser895Phe)
|
|
|
|
NM_032043.3(BRIP1):c.2686A>C (p.Ile896Leu)
|
rs764406913
|
|
|
NM_032043.3(BRIP1):c.2693A>G (p.Asp898Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2697A>C (p.Arg899Ser)
|
rs1603276849
|
|
|
NM_032043.3(BRIP1):c.2698A>C (p.Thr900Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2699C>A (p.Thr900Asn)
|
rs1359809807
|
|
|
NM_032043.3(BRIP1):c.2699C>G (p.Thr900Ser)
|
rs1359809807
|
|
|
NM_032043.3(BRIP1):c.2699C>T (p.Thr900Ile)
|
|
|
|
NM_032043.3(BRIP1):c.2707C>A (p.Gln903Lys)
|
rs1603276837
|
|
|
NM_032043.3(BRIP1):c.2708A>C (p.Gln903Pro)
|
rs2061357542
|
|
|
NM_032043.3(BRIP1):c.2708A>G (p.Gln903Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2710G>A (p.Asp904Asn)
|
rs1555573413
|
|
|
NM_032043.3(BRIP1):c.2712C>A (p.Asp904Glu)
|
rs1567731807
|
|
|
NM_032043.3(BRIP1):c.2714A>G (p.Asn905Ser)
|
rs1555573412
|
|
|
NM_032043.3(BRIP1):c.2718G>T (p.Glu906Asp)
|
rs1042327124
|
|
|
NM_032043.3(BRIP1):c.271C>T (p.His91Tyr)
|
rs2145829433
|
|
|
NM_032043.3(BRIP1):c.2720C>T (p.Ser907Phe)
|
rs2061357079
|
|
|
NM_032043.3(BRIP1):c.2725C>A (p.Leu909Ile)
|
|
|
|
NM_032043.3(BRIP1):c.2725C>G (p.Leu909Val)
|
rs587781853
|
|
|
NM_032043.3(BRIP1):c.2725C>T (p.Leu909Phe)
|
rs587781853
|
|
|
NM_032043.3(BRIP1):c.2726T>C (p.Leu909Pro)
|
rs770966270
|
|
|
NM_032043.3(BRIP1):c.2726T>G (p.Leu909Arg)
|
rs770966270
|
|
|
NM_032043.3(BRIP1):c.2728G>C (p.Glu910Gln)
|
rs1007808618
|
|
|
NM_032043.3(BRIP1):c.2729A>G (p.Glu910Gly)
|
rs1603276787
|
|
|
NM_032043.3(BRIP1):c.272A>C (p.His91Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2731G>T (p.Val911Leu)
|
rs1555573392
|
|
|
NM_032043.3(BRIP1):c.2732T>G (p.Val911Gly)
|
rs2144113358
|
|
|
NM_032043.3(BRIP1):c.2735C>A (p.Thr912Asn)
|
rs571949350
|
|
|
NM_032043.3(BRIP1):c.2737T>G (p.Ser913Ala)
|
rs1555573382
|
|
|
NM_032043.3(BRIP1):c.273T>G (p.His91Gln)
|
rs2145829382
|
|
|
NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser)
|
rs886053215
|
|
|
NM_032043.3(BRIP1):c.2746T>A (p.Tyr916Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2746T>C (p.Tyr916His)
|
rs2144112786
|
|
|
NM_032043.3(BRIP1):c.2749A>G (p.Ser917Gly)
|
rs1603276749
|
|
|
NM_032043.3(BRIP1):c.274T>C (p.Ser92Pro)
|
rs755930156
|
|
|
NM_032043.3(BRIP1):c.2752A>G (p.Thr918Ala)
|
rs1060501759
|
|
|
NM_032043.3(BRIP1):c.2753C>G (p.Thr918Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2753C>T (p.Thr918Ile)
|
rs587781298
|
|
|
NM_032043.3(BRIP1):c.2759C>T (p.Pro920Leu)
|
|
|
|
NM_032043.3(BRIP1):c.275C>T (p.Ser92Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2761T>A (p.Tyr921Asn)
|
rs2144112225
|
|
|
NM_032043.3(BRIP1):c.2764_2784del (p.Leu923_Leu929del)
|
rs2061355023
|
|
|
NM_032043.3(BRIP1):c.2768T>C (p.Leu923Pro)
|
rs2144112007
|
|
|
NM_032043.3(BRIP1):c.2770G>A (p.Glu924Lys)
|
rs1555573342
|
|
|
NM_032043.3(BRIP1):c.2771A>T (p.Glu924Val)
|
rs1567731533
|
|
|
NM_032043.3(BRIP1):c.2773G>A (p.Ala925Thr)
|
rs2061355245
|
|
|
NM_032043.3(BRIP1):c.2774C>G (p.Ala925Gly)
|
rs2061355212
|
|
|
NM_032043.3(BRIP1):c.2779A>G (p.Ser927Gly)
|
rs2061355061
|
|
|
NM_032043.3(BRIP1):c.2786T>C (p.Leu929Pro)
|
rs772087074
|
|
|
NM_032043.3(BRIP1):c.2788T>A (p.Ser930Thr)
|
|
|
|
NM_032043.3(BRIP1):c.2791C>T (p.Pro931Ser)
|
rs745940032
|
|
|
NM_032043.3(BRIP1):c.2792C>A (p.Pro931Gln)
|
rs932408573
|
|
|
NM_032043.3(BRIP1):c.2792C>T (p.Pro931Leu)
|
rs932408573
|
|
|
NM_032043.3(BRIP1):c.2801T>G (p.Phe934Cys)
|
rs778916092
|
|
|
NM_032043.3(BRIP1):c.2803G>A (p.Val935Met)
|
rs1219152456
|
|
|
NM_032043.3(BRIP1):c.2804T>C (p.Val935Ala)
|
rs4988356
|
|
|
NM_032043.3(BRIP1):c.2807A>G (p.Glu936Gly)
|
rs878855149
|
|
|
NM_032043.3(BRIP1):c.2807A>T (p.Glu936Val)
|
rs878855149
|
|
|
NM_032043.3(BRIP1):c.2809G>A (p.Asp937Asn)
|
rs2061354513
|
|
|
NM_032043.3(BRIP1):c.2809G>T (p.Asp937Tyr)
|
rs2061354513
|
|
|
NM_032043.3(BRIP1):c.2810A>G (p.Asp937Gly)
|
rs2061354479
|
|
|
NM_032043.3(BRIP1):c.2811T>G (p.Asp937Glu)
|
rs374335608
|
|
|
NM_032043.3(BRIP1):c.2812G>A (p.Glu938Lys)
|
rs199643061
|
|
|
NM_032043.3(BRIP1):c.2813A>G (p.Glu938Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2814A>C (p.Glu938Asp)
|
rs1555573311
|
|
|
NM_032043.3(BRIP1):c.2815G>A (p.Ala939Thr)
|
rs2061354305
|
|
|
NM_032043.3(BRIP1):c.2820G>C (p.Lys940Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2821A>C (p.Ile941Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2821A>G (p.Ile941Val)
|
rs2144110175
|
|
|
NM_032043.3(BRIP1):c.2824T>A (p.Cys942Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2824T>C (p.Cys942Arg)
|
rs1567731308
|
|
|
NM_032043.3(BRIP1):c.2825G>A (p.Cys942Tyr)
|
rs370330739
|
|
|
NM_032043.3(BRIP1):c.2827G>C (p.Val943Leu)
|
rs1401830781
|
|
|
NM_032043.3(BRIP1):c.2828T>C (p.Val943Ala)
|
rs786204143
|
|
|
NM_032043.3(BRIP1):c.2831A>C (p.Gln944Pro)
|
rs148232408
|
|
|
NM_032043.3(BRIP1):c.2831A>G (p.Gln944Arg)
|
rs148232408
|
|
|
NM_032043.3(BRIP1):c.2832G>C (p.Gln944His)
|
rs1603276606
|
|
|
NM_032043.3(BRIP1):c.2833G>A (p.Glu945Lys)
|
rs863224802
|
|
|
NM_032043.3(BRIP1):c.2836C>A (p.Leu946Ile)
|
rs1603276593
|
|
|
NM_032043.3(BRIP1):c.2836C>G (p.Leu946Val)
|
rs1603276593
|
|
|
NM_032043.3(BRIP1):c.2837T>A (p.Leu946Gln)
|
|
|
|
NM_032043.3(BRIP1):c.283T>G (p.Phe95Val)
|
|
|
|
NM_032043.3(BRIP1):c.2840A>G (p.Gln947Arg)
|
rs876659756
|
|
|
NM_032043.3(BRIP1):c.2844T>G (p.Cys948Trp)
|
rs1567731150
|
|
|
NM_032043.3(BRIP1):c.2848A>C (p.Lys950Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2850A>C (p.Lys950Asn)
|
rs1603276576
|
|
|
NM_032043.3(BRIP1):c.2851A>G (p.Ile951Val)
|
rs730881626
|
|
|
NM_032043.3(BRIP1):c.2855T>G (p.Ile952Ser)
|
rs1060501735
|
|
|
NM_032043.3(BRIP1):c.2857A>G (p.Thr953Ala)
|
rs587780245
|
|
|
NM_032043.3(BRIP1):c.2858C>A (p.Thr953Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2861A>C (p.Lys954Thr)
|
rs2144108739
|
|
|
NM_032043.3(BRIP1):c.2861A>G (p.Lys954Arg)
|
rs2144108739
|
|
|
NM_032043.3(BRIP1):c.2863A>G (p.Asn955Asp)
|
rs587782244
|
|
|
NM_032043.3(BRIP1):c.2864A>G (p.Asn955Ser)
|
rs2144108643
|
|
|
NM_032043.3(BRIP1):c.2869C>G (p.Pro957Ala)
|
rs2061352600
|
|
|
NM_032043.3(BRIP1):c.286A>G (p.Thr96Ala)
|
|
|
|
NM_032043.3(BRIP1):c.2870C>T (p.Pro957Leu)
|
rs786203077
|
|
|
NM_032043.3(BRIP1):c.2873T>C (p.Leu958Pro)
|
rs145859791
|
|
|
NM_032043.3(BRIP1):c.2876C>G (p.Pro959Arg)
|
rs1567731036
|
|
|
NM_032043.3(BRIP1):c.2878A>C (p.Ser960Arg)
|
rs1603276532
|
|
|
NM_032043.3(BRIP1):c.2878A>G (p.Ser960Gly)
|
rs1603276532
|
|
|
NM_032043.3(BRIP1):c.287C>T (p.Thr96Ile)
|
rs2078908690
|
|
|
NM_032043.3(BRIP1):c.2882G>A (p.Ser961Asn)
|
rs1060501732
|
|
|
NM_032043.3(BRIP1):c.2884A>G (p.Ile962Val)
|
rs1603276520
|
|
|
NM_032043.3(BRIP1):c.2891C>T (p.Ser964Phe)
|
|
|
|
NM_032043.3(BRIP1):c.2893A>G (p.Arg965Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2894G>A (p.Arg965Lys)
|
rs2061351932
|
|
|
NM_032043.3(BRIP1):c.2896A>G (p.Lys966Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2897A>G (p.Lys966Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2899G>A (p.Glu967Lys)
|
rs1305928655
|
|
|
NM_032043.3(BRIP1):c.289A>T (p.Asn97Tyr)
|
rs2078908581
|
|
|
NM_032043.3(BRIP1):c.28A>G (p.Ile10Val)
|
rs945685514
|
|
|
NM_032043.3(BRIP1):c.2905+117_2905+118insTA
|
rs2144105643
|
|
|
NM_032043.3(BRIP1):c.2905+2T>A
|
|
|
|
NM_032043.3(BRIP1):c.2905+3A>T
|
|
|
|
NM_032043.3(BRIP1):c.2905+4T>A
|
rs373835270
|
|
|
NM_032043.3(BRIP1):c.2905+5G>A
|
|
|
|
NM_032043.3(BRIP1):c.2906-2A>C
|
|
|
|
NM_032043.3(BRIP1):c.2906-3T>A
|
rs370819200
|
|
|
NM_032043.3(BRIP1):c.2906-3T>G
|
rs370819200
|
|
|
NM_032043.3(BRIP1):c.2906A>G (p.Asn969Ser)
|
rs1603275723
|
|
|
NM_032043.3(BRIP1):c.2908G>A (p.Asp970Asn)
|
rs1555572994
|
|
|
NM_032043.3(BRIP1):c.2909A>C (p.Asp970Ala)
|
|
|
|
NM_032043.3(BRIP1):c.2914G>C (p.Val972Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2915T>G (p.Val972Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2917T>A (p.Phe973Ile)
|
rs1060501727
|
|
|
NM_032043.3(BRIP1):c.2917T>G (p.Phe973Val)
|
rs1060501727
|
|
|
NM_032043.3(BRIP1):c.291C>A (p.Asn97Lys)
|
rs766561078
|
|
|
NM_032043.3(BRIP1):c.2923G>C (p.Glu975Gln)
|
rs1603275707
|
|
|
NM_032043.3(BRIP1):c.2929G>A (p.Ala977Thr)
|
rs864622628
|
|
|
NM_032043.3(BRIP1):c.2929G>C (p.Ala977Pro)
|
rs864622628
|
|
|
NM_032043.3(BRIP1):c.2929G>T (p.Ala977Ser)
|
rs864622628
|
|
|
NM_032043.3(BRIP1):c.2932G>A (p.Gly978Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2932G>C (p.Gly978Arg)
|
rs2061326304
|
|
|
NM_032043.3(BRIP1):c.2938G>C (p.Ala980Pro)
|
rs2061325944
|
|
|
NM_032043.3(BRIP1):c.2939C>A (p.Ala980Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2944A>G (p.Lys982Glu)
|
rs1316369686
|
|
|
NM_032043.3(BRIP1):c.2946A>T (p.Lys982Asn)
|
rs2144093397
|
|
|
NM_032043.3(BRIP1):c.2947A>G (p.Ile983Val)
|
rs755337038
|
|
|
NM_032043.3(BRIP1):c.2947A>T (p.Ile983Phe)
|
rs755337038
|
|
|
NM_032043.3(BRIP1):c.2948T>C (p.Ile983Thr)
|
rs587781417
|
|
|
NM_032043.3(BRIP1):c.2949T>G (p.Ile983Met)
|
rs746715917
|
|
|
NM_032043.3(BRIP1):c.294T>G (p.Asn98Lys)
|
rs1555617859
|
|
|
NM_032043.3(BRIP1):c.2950G>A (p.Val984Met)
|
rs2061325330
|
|
|
NM_032043.3(BRIP1):c.2950G>T (p.Val984Leu)
|
rs2061325330
|
|
|
NM_032043.3(BRIP1):c.2953A>G (p.Ile985Val)
|
|
|
|
NM_032043.3(BRIP1):c.2954T>C (p.Ile985Thr)
|
|
|
|
NM_032043.3(BRIP1):c.295G>A (p.Asp99Asn)
|
rs1603366321
|
|
|
NM_032043.3(BRIP1):c.2961A>C (p.Arg987Ser)
|
rs1567729555
|
|
|
NM_032043.3(BRIP1):c.2962T>C (p.Ser988Pro)
|
rs2061324880
|
|
|
NM_032043.3(BRIP1):c.2963C>T (p.Ser988Phe)
|
rs758032378
|
|
|
NM_032043.3(BRIP1):c.2966C>G (p.Thr989Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2969G>A (p.Ser990Asn)
|
rs2144092757
|
|
|
NM_032043.3(BRIP1):c.2970C>G (p.Ser990Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2972C>G (p.Pro991Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2972C>T (p.Pro991Leu)
|
rs2061324725
|
|
|
NM_032043.3(BRIP1):c.2974A>T (p.Thr992Ser)
|
rs1276811545
|
|
|
NM_032043.3(BRIP1):c.2975C>A (p.Thr992Asn)
|
rs2061324557
|
|
|
NM_032043.3(BRIP1):c.2975C>T (p.Thr992Ile)
|
rs2061324557
|
|
|
NM_032043.3(BRIP1):c.2978T>A (p.Phe993Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.297C>G (p.Asp99Glu)
|
rs201617644
|
|
|
NM_032043.3(BRIP1):c.2983A>G (p.Lys995Glu)
|
rs1555572929
|
|
|
NM_032043.3(BRIP1):c.2986C>G (p.Gln996Glu)
|
rs1567729513
|
|
|
NM_032043.3(BRIP1):c.2987A>G (p.Gln996Arg)
|
rs1603275641
|
|
|
NM_032043.3(BRIP1):c.298A>T (p.Met100Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile)
|
rs749978235
|
|
|
NM_032043.3(BRIP1):c.2992A>G (p.Lys998Glu)
|
rs1603275633
|
|
|
NM_032043.3(BRIP1):c.2994G>C (p.Lys998Asn)
|
rs757225144
|
|
|
NM_032043.3(BRIP1):c.2996G>T (p.Arg999Ile)
|
rs1603275620
|
|
|
NM_032043.3(BRIP1):c.299T>C (p.Met100Thr)
|
rs587782427
|
|
|
NM_032043.3(BRIP1):c.3002G>A (p.Ser1001Asn)
|
rs1603275610
|
|
|
NM_032043.3(BRIP1):c.3002G>C (p.Ser1001Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3017A>G (p.Asn1006Ser)
|
|
|
|
NM_032043.3(BRIP1):c.301A>G (p.Asn101Asp)
|
rs2145828545
|
|
|
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr)
|
rs886053214
|
|
|
NM_032043.3(BRIP1):c.3022T>A (p.Leu1008Met)
|
rs1165704345
|
|
|
NM_032043.3(BRIP1):c.3023T>C (p.Leu1008Ser)
|
rs2061323067
|
|
|
NM_032043.3(BRIP1):c.3025G>A (p.Gly1009Arg)
|
rs587781328
|
|
|
NM_032043.3(BRIP1):c.3025G>C (p.Gly1009Arg)
|
rs587781328
|
|
|
NM_032043.3(BRIP1):c.3026G>A (p.Gly1009Glu)
|
rs1555572908
|
|
|
NM_032043.3(BRIP1):c.3026G>T (p.Gly1009Val)
|
rs1555572908
|
|
|
NM_032043.3(BRIP1):c.3031T>C (p.Tyr1011His)
|
rs1567729362
|
|
|
NM_032043.3(BRIP1):c.303C>A (p.Asn101Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3041G>A (p.Gly1014Asp)
|
rs876659757
|
|
|
NM_032043.3(BRIP1):c.3041G>C (p.Gly1014Ala)
|
rs876659757
|
|
|
NM_032043.3(BRIP1):c.3044A>G (p.Lys1015Arg)
|
rs1006002613
|
|
|
NM_032043.3(BRIP1):c.3047T>G (p.Ile1016Arg)
|
rs2061322186
|
|
|
NM_032043.3(BRIP1):c.3048A>G (p.Ile1016Met)
|
|
|
|
NM_032043.3(BRIP1):c.3053A>G (p.Lys1018Arg)
|
rs2061321875
|
|
|
NM_032043.3(BRIP1):c.3055G>A (p.Ala1019Thr)
|
rs1603275556
|
|
|
NM_032043.3(BRIP1):c.3056C>T (p.Ala1019Val)
|
rs1555572884
|
|
|
NM_032043.3(BRIP1):c.305A>G (p.Gln102Arg)
|
rs1484234707
|
|
|
NM_032043.3(BRIP1):c.305A>T (p.Gln102Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3061C>T (p.Pro1021Ser)
|
rs1555572880
|
|
|
NM_032043.3(BRIP1):c.3064G>C (p.Glu1022Gln)
|
rs587782808
|
|
|
NM_032043.3(BRIP1):c.3065A>T (p.Glu1022Val)
|
rs2144089594
|
|
|
NM_032043.3(BRIP1):c.3068T>C (p.Leu1023Pro)
|
rs747345595
|
|
|
NM_032043.3(BRIP1):c.3070G>C (p.Gly1024Arg)
|
rs147119272
|
|
|
NM_032043.3(BRIP1):c.3076T>C (p.Ser1026Pro)
|
rs756712872
|
|
|
NM_032043.3(BRIP1):c.307G>A (p.Gly103Arg)
|
rs777068696
|
|
|
NM_032043.3(BRIP1):c.3080A>C (p.Glu1027Ala)
|
rs863224804
|
|
|
NM_032043.3(BRIP1):c.3082A>G (p.Asn1028Asp)
|
|
|
|
NM_032043.3(BRIP1):c.3083A>C (p.Asn1028Thr)
|
rs1060501762
|
|
|
NM_032043.3(BRIP1):c.3083A>G (p.Asn1028Ser)
|
rs1060501762
|
|
|
NM_032043.3(BRIP1):c.3084T>G (p.Asn1028Lys)
|
rs1424179519
|
|
|
NM_032043.3(BRIP1):c.3086G>A (p.Ser1029Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3088_3096dup (p.Ala1030_Ser1032dup)
|
rs1187782159
|
|
|
NM_032043.3(BRIP1):c.3089C>T (p.Ala1030Val)
|
rs767255426
|
|
|
NM_032043.3(BRIP1):c.3095G>A (p.Ser1032Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3097C>T (p.Pro1033Ser)
|
rs876659119
|
|
|
NM_032043.3(BRIP1):c.3100C>A (p.Pro1034Thr)
|
rs765416041
|
|
|
NM_032043.3(BRIP1):c.3104G>C (p.Arg1035Pro)
|
rs367816363
|
|
|
NM_032043.3(BRIP1):c.310A>G (p.Thr104Ala)
|
rs2145828204
|
|
|
NM_032043.3(BRIP1):c.3112A>G (p.Thr1038Ala)
|
rs2061319595
|
|
|
NM_032043.3(BRIP1):c.3113C>G (p.Thr1038Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3113C>T (p.Thr1038Ile)
|
rs2061319540
|
|
|
NM_032043.3(BRIP1):c.3116A>G (p.Glu1039Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3118A>C (p.Lys1040Gln)
|
rs876659428
|
|
|
NM_032043.3(BRIP1):c.3118A>G (p.Lys1040Glu)
|
rs876659428
|
|
|
NM_032043.3(BRIP1):c.3121A>G (p.Met1041Val)
|
rs1555572831
|
|
|
NM_032043.3(BRIP1):c.3124G>A (p.Glu1042Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3125A>G (p.Glu1042Gly)
|
rs1555572828
|
|
|
NM_032043.3(BRIP1):c.3128G>A (p.Ser1043Asn)
|
rs1555572825
|
|
|
NM_032043.3(BRIP1):c.3134C>G (p.Thr1045Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3136G>A (p.Val1046Ile)
|
rs1555572824
|
|
|
NM_032043.3(BRIP1):c.3136G>C (p.Val1046Leu)
|
rs1555572824
|
|
|
NM_032043.3(BRIP1):c.3143C>T (p.Pro1048Leu)
|
rs896510433
|
|
|
NM_032043.3(BRIP1):c.3148A>G (p.Thr1050Ala)
|
rs1567728933
|
|
|
NM_032043.3(BRIP1):c.3149C>G (p.Thr1050Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3155A>G (p.Lys1052Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3157T>C (p.Cys1053Arg)
|
rs2061318138
|
|
|
NM_032043.3(BRIP1):c.3163T>A (p.Ser1055Thr)
|
rs2144086036
|
|
|
NM_032043.3(BRIP1):c.3163T>C (p.Ser1055Pro)
|
|
|
|
NM_032043.3(BRIP1):c.3164C>A (p.Ser1055Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.3169A>G (p.Asn1057Asp)
|
rs2144085839
|
|
|
NM_032043.3(BRIP1):c.316C>A (p.Arg106Ser)
|
rs587780247
|
|
|
NM_032043.3(BRIP1):c.3171T>G (p.Asn1057Lys)
|
rs2061317850
|
|
|
NM_032043.3(BRIP1):c.3172C>G (p.Leu1058Val)
|
rs2061317781
|
|
|
NM_032043.3(BRIP1):c.3173T>G (p.Leu1058Arg)
|
rs2144085714
|
|
|
NM_032043.3(BRIP1):c.3176C>G (p.Thr1059Arg)
|
rs1400975728
|
|
|
NM_032043.3(BRIP1):c.3181A>C (p.Asn1061His)
|
rs778430337
|
|
|
NM_032043.3(BRIP1):c.3181A>G (p.Asn1061Asp)
|
rs778430337
|
|
|
NM_032043.3(BRIP1):c.3185C>T (p.Thr1062Ile)
|
rs770517912
|
|
|
NM_032043.3(BRIP1):c.3192T>G (p.Phe1064Leu)
|
rs2144084979
|
|
|
NM_032043.3(BRIP1):c.3196T>A (p.Ser1066Thr)
|
rs1199327421
|
|
|
NM_032043.3(BRIP1):c.3196T>C (p.Ser1066Pro)
|
rs1199327421
|
|
|
NM_032043.3(BRIP1):c.3199T>C (p.Cys1067Arg)
|
rs878855153
|
|
|
NM_032043.3(BRIP1):c.319C>T (p.His107Tyr)
|
rs2078907400
|
|
|
NM_032043.3(BRIP1):c.3200G>T (p.Cys1067Phe)
|
rs2144084686
|
|
|
NM_032043.3(BRIP1):c.3203C>G (p.Pro1068Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3205C>G (p.Gln1069Glu)
|
rs2061316417
|
|
|
NM_032043.3(BRIP1):c.320A>C (p.His107Pro)
|
rs876659809
|
|
|
NM_032043.3(BRIP1):c.3214A>G (p.Thr1072Ala)
|
rs756074244
|
|
|
NM_032043.3(BRIP1):c.3215C>A (p.Thr1072Asn)
|
rs786204068
|
|
|
NM_032043.3(BRIP1):c.3221T>C (p.Ile1074Thr)
|
rs1219988835
|
|
|
NM_032043.3(BRIP1):c.3223T>A (p.Ser1075Thr)
|
rs368867532
|
|
|
NM_032043.3(BRIP1):c.3227C>T (p.Ser1076Leu)
|
rs864622113
|
|
|
NM_032043.3(BRIP1):c.3233A>C (p.Lys1078Thr)
|
rs1603275371
|
|
|
NM_032043.3(BRIP1):c.3234G>T (p.Lys1078Asn)
|
rs570238270
|
|
|
NM_032043.3(BRIP1):c.3238G>C (p.Asp1080His)
|
rs786204230
|
|
|
NM_032043.3(BRIP1):c.3238G>T (p.Asp1080Tyr)
|
rs786204230
|
|
|
NM_032043.3(BRIP1):c.3241G>A (p.Ala1081Thr)
|
rs1567728640
|
|
|
NM_032043.3(BRIP1):c.3242C>T (p.Ala1081Val)
|
rs1555572749
|
|
|
NM_032043.3(BRIP1):c.3245C>A (p.Thr1082Asn)
|
rs1603275338
|
|
|
NM_032043.3(BRIP1):c.3245C>G (p.Thr1082Ser)
|
rs1603275338
|
|
|
NM_032043.3(BRIP1):c.324C>G (p.Phe108Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3253_3254delinsGT (p.Arg1085Val)
|
rs2061314506
|
|
|
NM_032043.3(BRIP1):c.3254G>C (p.Arg1085Thr)
|
rs1567728589
|
|
|
NM_032043.3(BRIP1):c.3256A>G (p.Lys1086Glu)
|
|
|
|
NM_032043.3(BRIP1):c.325A>G (p.Asn109Asp)
|
rs2078907245
|
|
|
NM_032043.3(BRIP1):c.3261T>G (p.Asn1087Lys)
|
rs1567728557
|
|
|
NM_032043.3(BRIP1):c.3263A>G (p.His1088Arg)
|
rs2061314121
|
|
|
NM_032043.3(BRIP1):c.3265T>G (p.Ser1089Ala)
|
rs764205156
|
|
|
NM_032043.3(BRIP1):c.3266C>G (p.Ser1089Cys)
|
rs761278503
|
|
|
NM_032043.3(BRIP1):c.3266C>T (p.Ser1089Phe)
|
rs761278503
|
|
|
NM_032043.3(BRIP1):c.3271C>T (p.His1091Tyr)
|
rs1555572732
|
|
|
NM_032043.3(BRIP1):c.3274C>A (p.Pro1092Thr)
|
rs768065626
|
|
|
NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln)
|
rs587780830
|
|
|
NM_032043.3(BRIP1):c.3275C>G (p.Pro1092Arg)
|
rs587780830
|
|
|
NM_032043.3(BRIP1):c.3277C>G (p.Leu1093Val)
|
rs876660638
|
|
|
NM_032043.3(BRIP1):c.3277C>T (p.Leu1093Phe)
|
rs876660638
|
|
|
NM_032043.3(BRIP1):c.3283T>C (p.Ser1095Pro)
|
rs2061313248
|
|
|
NM_032043.3(BRIP1):c.3284C>T (p.Ser1095Phe)
|
rs1479296707
|
|
|
NM_032043.3(BRIP1):c.3287AAG[3] (p.Glu1097dup)
|
rs1603275271
|
|
|
NM_032043.3(BRIP1):c.328T>C (p.Tyr110His)
|
rs1555617821
|
|
|
NM_032043.3(BRIP1):c.3290A>G (p.Glu1097Gly)
|
rs876658746
|
|
|
NM_032043.3(BRIP1):c.3292G>T (p.Ala1098Ser)
|
rs1034545913
|
|
|
NM_032043.3(BRIP1):c.3293C>A (p.Ala1098Asp)
|
rs1361161166
|
|
|
NM_032043.3(BRIP1):c.3293C>T (p.Ala1098Val)
|
|
|
|
NM_032043.3(BRIP1):c.3298G>C (p.Asp1100His)
|
rs587781923
|
|
|
NM_032043.3(BRIP1):c.3298G>T (p.Asp1100Tyr)
|
rs587781923
|
|
|
NM_032043.3(BRIP1):c.3299A>T (p.Asp1100Val)
|
rs864622072
|
|
|
NM_032043.3(BRIP1):c.3301C>T (p.Pro1101Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3302C>T (p.Pro1101Leu)
|
rs2061312470
|
|
|
NM_032043.3(BRIP1):c.3305A>G (p.Asp1102Gly)
|
rs748140041
|
|
|
NM_032043.3(BRIP1):c.3307A>G (p.Ile1103Val)
|
rs1555572700
|
|
|
NM_032043.3(BRIP1):c.3311A>T (p.Glu1104Val)
|
rs1567728360
|
|
|
NM_032043.3(BRIP1):c.3312A>T (p.Glu1104Asp)
|
rs1555572697
|
|
|
NM_032043.3(BRIP1):c.3315G>T (p.Leu1105Phe)
|
rs1603275236
|
|
|
NM_032043.3(BRIP1):c.3320T>C (p.Leu1107Pro)
|
|
|
|
NM_032043.3(BRIP1):c.3322G>A (p.Val1108Ile)
|
rs1275343223
|
|
|
NM_032043.3(BRIP1):c.3323T>G (p.Val1108Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3328G>A (p.Glu1110Lys)
|
rs1060501774
|
|
|
NM_032043.3(BRIP1):c.3329A>G (p.Glu1110Gly)
|
rs1060501742
|
|
|
NM_032043.3(BRIP1):c.332C>T (p.Pro111Leu)
|
rs201790351
|
|
|
NM_032043.3(BRIP1):c.3331G>A (p.Glu1111Lys)
|
rs587780248
|
|
|
NM_032043.3(BRIP1):c.3332A>T (p.Glu1111Val)
|
rs2061311057
|
|
|
NM_032043.3(BRIP1):c.3334G>A (p.Asp1112Asn)
|
rs968860042
|
|
|
NM_032043.3(BRIP1):c.3336T>A (p.Asp1112Glu)
|
rs369843642
|
|
|
NM_032043.3(BRIP1):c.3337A>C (p.Lys1113Gln)
|
|
|
|
NM_032043.3(BRIP1):c.3337A>G (p.Lys1113Glu)
|
rs2061310712
|
|
|
NM_032043.3(BRIP1):c.3340C>G (p.Gln1114Glu)
|
|
|
|
NM_032043.3(BRIP1):c.3341A>C (p.Gln1114Pro)
|
|
|
|
NM_032043.3(BRIP1):c.3342G>C (p.Gln1114His)
|
rs2144079516
|
|
|
NM_032043.3(BRIP1):c.3343T>A (p.Ser1115Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3343T>C (p.Ser1115Pro)
|
rs1567728281
|
|
|
NM_032043.3(BRIP1):c.3344C>A (p.Ser1115Tyr)
|
rs1419933310
|
|
|
NM_032043.3(BRIP1):c.3344C>G (p.Ser1115Cys)
|
rs1419933310
|
|
|
NM_032043.3(BRIP1):c.3344C>T (p.Ser1115Phe)
|
rs1419933310
|
|
|
NM_032043.3(BRIP1):c.3346A>G (p.Thr1116Ala)
|
|
|
|
NM_032043.3(BRIP1):c.3350C>T (p.Ser1117Leu)
|
rs1555572672
|
|
|
NM_032043.3(BRIP1):c.3352A>G (p.Asn1118Asp)
|
rs2061310251
|
|
|
NM_032043.3(BRIP1):c.3353A>G (p.Asn1118Ser)
|
rs1060501773
|
|
|
NM_032043.3(BRIP1):c.3356G>C (p.Arg1119Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3358G>A (p.Asp1120Asn)
|
rs1555572663
|
|
|
NM_032043.3(BRIP1):c.3358G>C (p.Asp1120His)
|
|
|
|
NM_032043.3(BRIP1):c.335G>A (p.Ser112Asn)
|
rs1555617813
|
|
|
NM_032043.3(BRIP1):c.3364G>C (p.Glu1122Gln)
|
|
|
|
NM_032043.3(BRIP1):c.3365A>G (p.Glu1122Gly)
|
rs2144078743
|
|
|
NM_032043.3(BRIP1):c.3367A>G (p.Thr1123Ala)
|
rs754056526
|
|
|
NM_032043.3(BRIP1):c.3368C>G (p.Thr1123Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3371A>G (p.Glu1124Gly)
|
rs1064793894
|
|
|
NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del)
|
rs745344948
|
|
|
NM_032043.3(BRIP1):c.3378A>T (p.Glu1126Asp)
|
rs145855459
|
|
|
NM_032043.3(BRIP1):c.3379G>C (p.Asp1127His)
|
rs2144078261
|
|
|
NM_032043.3(BRIP1):c.337A>C (p.Thr113Pro)
|
rs1555617812
|
|
|
NM_032043.3(BRIP1):c.3382G>A (p.Glu1128Lys)
|
rs45552539
|
|
|
NM_032043.3(BRIP1):c.3382G>C (p.Glu1128Gln)
|
rs45552539
|
|
|
NM_032043.3(BRIP1):c.3388A>T (p.Ile1130Phe)
|
rs786202549
|
|
|
NM_032043.3(BRIP1):c.3389T>C (p.Ile1130Thr)
|
rs1057522432
|
|
|
NM_032043.3(BRIP1):c.3390C>G (p.Ile1130Met)
|
rs2061308845
|
|
|
NM_032043.3(BRIP1):c.3392A>G (p.Tyr1131Cys)
|
rs1567728145
|
|
|
NM_032043.3(BRIP1):c.3397A>T (p.Thr1133Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3398C>T (p.Thr1133Ile)
|
rs1555572645
|
|
|
NM_032043.3(BRIP1):c.3404A>G (p.Glu1135Gly)
|
rs1235908208
|
|
|
NM_032043.3(BRIP1):c.3404_3405insCAG (p.Glu1135delinsAspArg)
|
rs1603275121
|
|
|
NM_032043.3(BRIP1):c.3406C>T (p.Leu1136Phe)
|
rs1555572626
|
|
|
NM_032043.3(BRIP1):c.3407T>G (p.Leu1136Arg)
|
rs2061308258
|
|
|
NM_032043.3(BRIP1):c.3409T>C (p.Tyr1137His)
|
rs2061308195
|
|
|
NM_032043.3(BRIP1):c.340C>T (p.Pro114Ser)
|
rs2145827137
|
|
|
NM_032043.3(BRIP1):c.3410_3411delinsGC (p.Tyr1137Cys)
|
|
|
|
NM_032043.3(BRIP1):c.3411_3412delinsCC (p.Asp1138His)
|
rs1555572620
|
|
|
NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr)
|
rs1555572620
|
|
|
NM_032043.3(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer)
|
rs876660100
|
|
|
NM_032043.3(BRIP1):c.3412G>A (p.Asp1138Asn)
|
rs587780249
|
|
|
NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly)
|
rs1057518847
|
|
|
NM_032043.3(BRIP1):c.3415C>T (p.Pro1139Ser)
|
rs1186451404
|
|
|
NM_032043.3(BRIP1):c.3416C>T (p.Pro1139Leu)
|
rs1555572613
|
|
|
NM_032043.3(BRIP1):c.341C>A (p.Pro114Gln)
|
rs876658965
|
|
|
NM_032043.3(BRIP1):c.341C>T (p.Pro114Leu)
|
rs876658965
|
|
|
NM_032043.3(BRIP1):c.3420dup (p.Asp1141fs)
|
|
|
|
NM_032043.3(BRIP1):c.3422A>C (p.Asp1141Ala)
|
rs1034551306
|
|
|
NM_032043.3(BRIP1):c.3422A>T (p.Asp1141Val)
|
rs1034551306
|
|
|
NM_032043.3(BRIP1):c.3425C>G (p.Thr1142Arg)
|
rs1279318199
|
|
|
NM_032043.3(BRIP1):c.3427G>A (p.Asp1143Asn)
|
rs1217932471
|
|
|
NM_032043.3(BRIP1):c.3428A>G (p.Asp1143Gly)
|
rs2061307264
|
|
|
NM_032043.3(BRIP1):c.3429T>G (p.Asp1143Glu)
|
rs1315917374
|
|
|
NM_032043.3(BRIP1):c.3430G>A (p.Glu1144Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3430G>C (p.Glu1144Gln)
|
|
|
|
NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly)
|
rs774605759
|
|
|
NM_032043.3(BRIP1):c.3436A>G (p.Lys1146Glu)
|
rs786202247
|
|
|
NM_032043.3(BRIP1):c.3437A>G (p.Lys1146Arg)
|
rs1567727955
|
|
|
NM_032043.3(BRIP1):c.3437A>T (p.Lys1146Ile)
|
rs1567727955
|
|
|
NM_032043.3(BRIP1):c.3439A>G (p.Asn1147Asp)
|
rs1258403817
|
|
|
NM_032043.3(BRIP1):c.343C>T (p.Pro115Ser)
|
rs876659142
|
|
|
NM_032043.3(BRIP1):c.3440dup (p.Asn1147fs)
|
rs753683450
|
|
|
NM_032043.3(BRIP1):c.3443A>G (p.Asp1148Gly)
|
rs2061306531
|
|
|
NM_032043.3(BRIP1):c.3449C>G (p.Ala1150Gly)
|
rs1064796059
|
|
|
NM_032043.3(BRIP1):c.3449C>T (p.Ala1150Val)
|
|
|
|
NM_032043.3(BRIP1):c.344C>A (p.Pro115His)
|
rs1555617800
|
|
|
NM_032043.3(BRIP1):c.344C>T (p.Pro115Leu)
|
rs1555617800
|
|
|
NM_032043.3(BRIP1):c.3451G>A (p.Glu1151Lys)
|
rs1555572587
|
|
|
NM_032043.3(BRIP1):c.3455_3467del (p.Thr1152fs)
|
|
|
|
NM_032043.3(BRIP1):c.3458A>G (p.Asp1153Gly)
|
rs1603275027
|
|
|
NM_032043.3(BRIP1):c.3461G>A (p.Arg1154Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3461G>C (p.Arg1154Thr)
|
rs1057522433
|
|
|
NM_032043.3(BRIP1):c.3466A>G (p.Asn1156Asp)
|
|
|
|
NM_032043.3(BRIP1):c.3467A>G (p.Asn1156Ser)
|
rs1603275008
|
|
|
NM_032043.3(BRIP1):c.3472T>A (p.Leu1158Met)
|
rs1060504330
|
|
|
NM_032043.3(BRIP1):c.3473T>G (p.Leu1158Trp)
|
rs876659655
|
|
|
NM_032043.3(BRIP1):c.3475G>A (p.Ala1159Thr)
|
rs368610199
|
|
|
NM_032043.3(BRIP1):c.3475G>C (p.Ala1159Pro)
|
rs368610199
|
|
|
NM_032043.3(BRIP1):c.3475G>T (p.Ala1159Ser)
|
rs368610199
|
|
|
NM_032043.3(BRIP1):c.3478A>G (p.Asn1160Asp)
|
rs2061305104
|
|
|
NM_032043.3(BRIP1):c.347C>T (p.Ser116Phe)
|
rs748793974
|
|
|
NM_032043.3(BRIP1):c.3481_3489dup (p.Asn1161_Asp1163dup)
|
rs2061304922
|
|
|
NM_032043.3(BRIP1):c.3488A>G (p.Asp1163Gly)
|
rs2061304985
|
|
|
NM_032043.3(BRIP1):c.3489_3490delinsCG (p.Cys1164Gly)
|
rs2061304770
|
|
|
NM_032043.3(BRIP1):c.3493A>T (p.Ile1165Phe)
|
rs771889454
|
|
|
NM_032043.3(BRIP1):c.3496T>G (p.Leu1166Val)
|
rs2144073872
|
|
|
NM_032043.3(BRIP1):c.3497T>C (p.Leu1166Ser)
|
rs2061304526
|
|
|
NM_032043.3(BRIP1):c.3499G>C (p.Ala1167Pro)
|
rs1555572570
|
|
|
NM_032043.3(BRIP1):c.34G>A (p.Gly12Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3503A>C (p.Lys1168Thr)
|
rs749589266
|
|
|
NM_032043.3(BRIP1):c.3504del (p.Asp1169fs)
|
|
|
|
NM_032043.3(BRIP1):c.3506A>C (p.Asp1169Ala)
|
rs2061304201
|
|
|
NM_032043.3(BRIP1):c.3507C>G (p.Asp1169Glu)
|
rs375741316
|
|
|
NM_032043.3(BRIP1):c.3508C>G (p.Leu1170Val)
|
rs587782552
|
|
|
NM_032043.3(BRIP1):c.3508del (p.Leu1170fs)
|
rs2144073489
|
|
|
NM_032043.3(BRIP1):c.3509T>A (p.Leu1170His)
|
|
|
|
NM_032043.3(BRIP1):c.3512T>C (p.Phe1171Ser)
|
rs878855155
|
|
|
NM_032043.3(BRIP1):c.3513del (p.Phe1171fs)
|
|
|
|
NM_032043.3(BRIP1):c.3517A>C (p.Ile1173Leu)
|
rs2061303840
|
|
|
NM_032043.3(BRIP1):c.3520A>G (p.Arg1174Gly)
|
rs2144073209
|
|
|
NM_032043.3(BRIP1):c.3521G>A (p.Arg1174Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3526A>G (p.Ile1176Val)
|
rs2061303537
|
|
|
NM_032043.3(BRIP1):c.3528A>G (p.Ile1176Met)
|
|
|
|
NM_032043.3(BRIP1):c.3528_3529insTTT (p.Ile1176_Lys1177insPhe)
|
|
|
|
NM_032043.3(BRIP1):c.3530A>G (p.Lys1177Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3530AAG[1] (p.Glu1178del)
|
rs1567727749
|
|
|
NM_032043.3(BRIP1):c.3532G>A (p.Glu1178Lys)
|
rs876661115
|
|
|
NM_032043.3(BRIP1):c.3532G>C (p.Glu1178Gln)
|
rs876661115
|
|
|
NM_032043.3(BRIP1):c.3533A>G (p.Glu1178Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3535G>A (p.Val1179Ile)
|
|
|
|
NM_032043.3(BRIP1):c.3536T>G (p.Val1179Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3536_3538del (p.Val1179del)
|
rs1603274921
|
|
|
NM_032043.3(BRIP1):c.3538G>C (p.Asp1180His)
|
rs2061303001
|
|
|
NM_032043.3(BRIP1):c.3544G>A (p.Ala1182Thr)
|
rs1555572535
|
|
|
NM_032043.3(BRIP1):c.3551A>G (p.Glu1184Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3553G>C (p.Val1185Leu)
|
rs1567727691
|
|
|
NM_032043.3(BRIP1):c.3553G>T (p.Val1185Leu)
|
rs1567727691
|
|
|
NM_032043.3(BRIP1):c.3557A>G (p.Lys1186Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3560C>T (p.Ala1187Val)
|
rs1603274878
|
|
|
NM_032043.3(BRIP1):c.3562G>A (p.Glu1188Lys)
|
rs786201962
|
|
|
NM_032043.3(BRIP1):c.3563A>G (p.Glu1188Gly)
|
rs2061301893
|
|
|
NM_032043.3(BRIP1):c.3565G>A (p.Asp1189Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3569G>C (p.Cys1190Ser)
|
rs2061301683
|
|
|
NM_032043.3(BRIP1):c.3569_3570delinsCT (p.Cys1190Ser)
|
|
|
|
NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser)
|
rs889877039
|
|
|
NM_032043.3(BRIP1):c.3572T>C (p.Ile1191Thr)
|
rs2061301543
|
|
|
NM_032043.3(BRIP1):c.3575A>G (p.Asp1192Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3578C>A (p.Thr1193Lys)
|
rs1368343911
|
|
|
NM_032043.3(BRIP1):c.3578C>G (p.Thr1193Arg)
|
rs1368343911
|
|
|
NM_032043.3(BRIP1):c.357T>A (p.Asn119Lys)
|
rs786202477
|
|
|
NM_032043.3(BRIP1):c.3581A>T (p.Lys1194Met)
|
rs2144071092
|
|
|
NM_032043.3(BRIP1):c.3584_3586delinsGG (p.Leu1195fs)
|
rs1555572519
|
|
|
NM_032043.3(BRIP1):c.3590G>A (p.Gly1197Glu)
|
rs587781677
|
|
|
NM_032043.3(BRIP1):c.3592A>T (p.Ile1198Phe)
|
rs2061300867
|
|
|
NM_032043.3(BRIP1):c.3594T>G (p.Ile1198Met)
|
rs1603274842
|
|
|
NM_032043.3(BRIP1):c.3595C>G (p.Leu1199Val)
|
rs876659839
|
|
|
NM_032043.3(BRIP1):c.3597_3598delinsCA (p.His1200Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3599A>G (p.His1200Arg)
|
rs730881628
|
|
|
NM_032043.3(BRIP1):c.359G>A (p.Gly120Asp)
|
rs730881637
|
|
|
NM_032043.3(BRIP1):c.359G>T (p.Gly120Val)
|
|
|
|
NM_032043.3(BRIP1):c.35G>C (p.Gly12Ala)
|
rs1555618733
|
|
|
NM_032043.3(BRIP1):c.3601A>G (p.Ile1201Val)
|
|
|
|
NM_032043.3(BRIP1):c.3602T>C (p.Ile1201Thr)
|
rs2061300384
|
|
|
NM_032043.3(BRIP1):c.3605A>C (p.Glu1202Ala)
|
rs776010326
|
|
|
NM_032043.3(BRIP1):c.3607del (p.Glu1203fs)
|
rs2144070111
|
|
|
NM_032043.3(BRIP1):c.3608A>G (p.Glu1203Gly)
|
rs1403310555
|
|
|
NM_032043.3(BRIP1):c.3613A>G (p.Lys1205Glu)
|
|
|
|
NM_032043.3(BRIP1):c.3615A>C (p.Lys1205Asn)
|
rs768156067
|
|
|
NM_032043.3(BRIP1):c.3616A>G (p.Ile1206Val)
|
|
|
|
NM_032043.3(BRIP1):c.3617T>C (p.Ile1206Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3618T>G (p.Ile1206Met)
|
rs2061299577
|
|
|
NM_032043.3(BRIP1):c.3619G>A (p.Asp1207Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3622G>A (p.Asp1208Asn)
|
rs760589795
|
|
|
NM_032043.3(BRIP1):c.3622G>C (p.Asp1208His)
|
rs760589795
|
|
|
NM_032043.3(BRIP1):c.3625A>G (p.Ile1209Val)
|
rs1603274780
|
|
|
NM_032043.3(BRIP1):c.3629A>G (p.Asp1210Gly)
|
rs112214651
|
|
|
NM_032043.3(BRIP1):c.3629_3631del (p.Asp1210del)
|
rs1064794200
|
|
|
NM_032043.3(BRIP1):c.362C>T (p.Thr121Ile)
|
rs777630298
|
|
|
NM_032043.3(BRIP1):c.3631G>A (p.Gly1211Ser)
|
rs1567727439
|
|
|
NM_032043.3(BRIP1):c.3632del (p.Gly1211fs)
|
rs2144069324
|
|
|
NM_032043.3(BRIP1):c.3634A>G (p.Asn1212Asp)
|
rs2144069259
|
|
|
NM_032043.3(BRIP1):c.3637G>A (p.Val1213Ile)
|
|
|
|
NM_032043.3(BRIP1):c.3641A>C (p.Lys1214Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3642A>C (p.Lys1214Asn)
|
rs2061298986
|
|
|
NM_032043.3(BRIP1):c.3647C>T (p.Thr1216Ile)
|
rs1567727417
|
|
|
NM_032043.3(BRIP1):c.364T>G (p.Ser122Ala)
|
rs1555617788
|
|
|
NM_032043.3(BRIP1):c.3650G>T (p.Trp1217Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3655A>C (p.Asn1219His)
|
rs1567727404
|
|
|
NM_032043.3(BRIP1):c.3656del (p.Asn1219fs)
|
rs2061298543
|
|
|
NM_032043.3(BRIP1):c.3658G>A (p.Glu1220Lys)
|
rs1555572476
|
|
|
NM_032043.3(BRIP1):c.3658G>T (p.Glu1220Ter)
|
rs1555572476
|
|
|
NM_032043.3(BRIP1):c.3659A>G (p.Glu1220Gly)
|
rs2061298409
|
|
|
NM_032043.3(BRIP1):c.3660A>C (p.Glu1220Asp)
|
|
|
|
NM_032043.3(BRIP1):c.3661C>G (p.Leu1221Val)
|
rs2061298344
|
|
|
NM_032043.3(BRIP1):c.3662T>G (p.Leu1221Arg)
|
rs778805688
|
|
|
NM_032043.3(BRIP1):c.3664G>C (p.Glu1222Gln)
|
rs2144068196
|
|
|
NM_032043.3(BRIP1):c.3664dup (p.Glu1222fs)
|
rs752586524
|
|
|
NM_032043.3(BRIP1):c.3665A>T (p.Glu1222Val)
|
rs770175142
|
|
|
NM_032043.3(BRIP1):c.3667_3673del (p.Leu1223fs)
|
rs2061297923
|
|
|
NM_032043.3(BRIP1):c.3671G>A (p.Gly1224Glu)
|
|
|
|
NM_032043.3(BRIP1):c.3674A>C (p.Lys1225Thr)
|
rs2144067914
|
|
|
NM_032043.3(BRIP1):c.3676del (p.Thr1226fs)
|
rs2144067889
|
|
|
NM_032043.3(BRIP1):c.3679C>G (p.His1227Asp)
|
rs2061297833
|
|
|
NM_032043.3(BRIP1):c.3680A>G (p.His1227Arg)
|
rs755069935
|
|
|
NM_032043.3(BRIP1):c.3680A>T (p.His1227Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3682G>A (p.Glu1228Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3685A>C (p.Ile1229Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3686T>C (p.Ile1229Thr)
|
rs1157058742
|
|
|
NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val)
|
rs876659290
|
|
|
NM_032043.3(BRIP1):c.3692T>C (p.Ile1231Thr)
|
rs780578438
|
|
|
NM_032043.3(BRIP1):c.3692T>G (p.Ile1231Arg)
|
rs780578438
|
|
|
NM_032043.3(BRIP1):c.3694A>G (p.Lys1232Glu)
|
|
|
|
NM_032043.3(BRIP1):c.3695A>G (p.Lys1232Arg)
|
rs1555572446
|
|
|
NM_032043.3(BRIP1):c.3698A>G (p.Asn1233Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3700T>C (p.Phe1234Leu)
|
rs878855156
|
|
|
NM_032043.3(BRIP1):c.3701T>C (p.Phe1234Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3701T>G (p.Phe1234Cys)
|
rs587778137
|
|
|
NM_032043.3(BRIP1):c.3702T>G (p.Phe1234Leu)
|
rs2061296981
|
|
|
NM_032043.3(BRIP1):c.3703A>G (p.Lys1235Glu)
|
rs1567727245
|
|
|
NM_032043.3(BRIP1):c.3706C>T (p.Pro1236Ser)
|
rs1060501771
|
|
|
NM_032043.3(BRIP1):c.3707C>T (p.Pro1236Leu)
|
rs1265133595
|
|
|
NM_032043.3(BRIP1):c.370A>C (p.Thr124Pro)
|
rs45617634
|
|
|
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala)
|
rs45617634
|
|
|
NM_032043.3(BRIP1):c.3710C>A (p.Ser1237Tyr)
|
rs587781819
|
|
|
NM_032043.3(BRIP1):c.3710C>T (p.Ser1237Phe)
|
rs587781819
|
|
|
NM_032043.3(BRIP1):c.3712C>A (p.Pro1238Thr)
|
rs1192747697
|
|
|
NM_032043.3(BRIP1):c.3712_3714del (p.Pro1238del)
|
rs1603274664
|
|
|
NM_032043.3(BRIP1):c.3715T>C (p.Ser1239Pro)
|
rs587781886
|
|
|
NM_032043.3(BRIP1):c.371C>A (p.Thr124Asn)
|
rs2145826085
|
|
|
NM_032043.3(BRIP1):c.3726_3730dup (p.Met1244fs)
|
rs1491231712
|
|
|
NM_032043.3(BRIP1):c.3728G>A (p.Gly1243Asp)
|
rs765545033
|
|
|
NM_032043.3(BRIP1):c.3728G>C (p.Gly1243Ala)
|
|
|
|
NM_032043.3(BRIP1):c.3728G>T (p.Gly1243Val)
|
rs765545033
|
|
|
NM_032043.3(BRIP1):c.3730A>C (p.Met1244Leu)
|
rs761468878
|
|
|
NM_032043.3(BRIP1):c.3731T>A (p.Met1244Lys)
|
rs1260819959
|
|
|
NM_032043.3(BRIP1):c.3731_*5del (p.Met1244fs)
|
rs1555572407
|
|
|
NM_032043.3(BRIP1):c.3732G>A (p.Met1244Ile)
|
rs753516000
|
|
|
NM_032043.3(BRIP1):c.3734T>G (p.Phe1245Cys)
|
|
|
|
NM_032043.3(BRIP1):c.3737C>T (p.Pro1246Leu)
|
rs876660074
|
|
|
NM_032043.3(BRIP1):c.3740G>A (p.Gly1247Asp)
|
rs2144065748
|
|
|
NM_032043.3(BRIP1):c.3742T>C (p.Phe1248Leu)
|
rs1567727102
|
|
|
NM_032043.3(BRIP1):c.3744del (p.Phe1248fs)
|
rs2061295225
|
|
|
NM_032043.3(BRIP1):c.3747_3750del (p.Lys1249fs)
|
rs1555572410
|
|
|
NM_032043.3(BRIP1):c.374G>C (p.Cys125Ser)
|
rs876660020
|
|
|
NM_032043.3(BRIP1):c.374G>T (p.Cys125Phe)
|
rs876660020
|
|
|
NM_032043.3(BRIP1):c.378A>G (p.Gln126=)
|
rs2145825894
|
|
|
NM_032043.3(BRIP1):c.379+5T>A
|
rs1603366174
|
|
|
NM_032043.3(BRIP1):c.37G>A (p.Val13Met)
|
rs1488264110
|
|
|
NM_032043.3(BRIP1):c.37G>T (p.Val13Leu)
|
|
|
|
NM_032043.3(BRIP1):c.380-14A>G
|
|
|
|
NM_032043.3(BRIP1):c.380-18T>A
|
|
|
|
NM_032043.3(BRIP1):c.383C>T (p.Ser128Phe)
|
rs1603362723
|
|
|
NM_032043.3(BRIP1):c.385C>T (p.Pro129Ser)
|
rs1555616229
|
|
|
NM_032043.3(BRIP1):c.386C>A (p.Pro129His)
|
rs587780831
|
|
|
NM_032043.3(BRIP1):c.386C>G (p.Pro129Arg)
|
rs587780831
|
|
|
NM_032043.3(BRIP1):c.388G>A (p.Glu130Lys)
|
rs876658860
|
|
|
NM_032043.3(BRIP1):c.392A>G (p.Lys131Arg)
|
rs2078781626
|
|
|
NM_032043.3(BRIP1):c.393A>C (p.Lys131Asn)
|
rs2078781577
|
|
|
NM_032043.3(BRIP1):c.395C>A (p.Thr132Asn)
|
|
|
|
NM_032043.3(BRIP1):c.396C>G (p.Thr132=)
|
|
|
|
NM_032043.3(BRIP1):c.396_398dup (p.Thr133_Leu134insThr)
|
|
|
|
NM_032043.3(BRIP1):c.397A>G (p.Thr133Ala)
|
rs764256720
|
|
|
NM_032043.3(BRIP1):c.398C>G (p.Thr133Ser)
|
|
|
|
NM_032043.3(BRIP1):c.401T>C (p.Leu134Pro)
|
|
|
|
NM_032043.3(BRIP1):c.403G>T (p.Ala135Ser)
|
|
|
|
NM_032043.3(BRIP1):c.404C>G (p.Ala135Gly)
|
|
|
|
NM_032043.3(BRIP1):c.404C>T (p.Ala135Val)
|
rs1295736478
|
|
|
NM_032043.3(BRIP1):c.407C>A (p.Ala136Glu)
|
|
|
|
NM_032043.3(BRIP1):c.409A>G (p.Lys137Glu)
|
rs878855157
|
|
|
NM_032043.3(BRIP1):c.40A>G (p.Lys14Glu)
|
rs1555618727
|
|
|
NM_032043.3(BRIP1):c.415T>C (p.Ser139Pro)
|
|
|
|
NM_032043.3(BRIP1):c.416C>T (p.Ser139Phe)
|
rs1567868653
|
|
|
NM_032043.3(BRIP1):c.418G>A (p.Ala140Thr)
|
rs2078780535
|
|
|
NM_032043.3(BRIP1):c.423G>C (p.Lys141Asn)
|
rs1603362663
|
|
|
NM_032043.3(BRIP1):c.427_428delinsGG (p.Gln143Gly)
|
|
|
|
NM_032043.3(BRIP1):c.428A>C (p.Gln143Pro)
|
rs1603362656
|
|
|
NM_032043.3(BRIP1):c.428A>G (p.Gln143Arg)
|
rs1603362656
|
|
|
NM_032043.3(BRIP1):c.428A>T (p.Gln143Leu)
|
|
|
|
NM_032043.3(BRIP1):c.42G>C (p.Lys14Asn)
|
rs2078972704
|
|
|
NM_032043.3(BRIP1):c.42G>T (p.Lys14Asn)
|
rs2078972704
|
|
|
NM_032043.3(BRIP1):c.430G>T (p.Ala144Ser)
|
|
|
|
NM_032043.3(BRIP1):c.431C>A (p.Ala144Glu)
|
rs1555616182
|
|
|
NM_032043.3(BRIP1):c.436A>G (p.Ile146Val)
|
rs1567868598
|
|
|
NM_032043.3(BRIP1):c.438A>G (p.Ile146Met)
|
rs886038702
|
|
|
NM_032043.3(BRIP1):c.439T>C (p.Tyr147His)
|
rs1567868580
|
|
|
NM_032043.3(BRIP1):c.43A>G (p.Ile15Val)
|
rs1567878177
|
|
|
NM_032043.3(BRIP1):c.443G>A (p.Arg148Lys)
|
rs1243511600
|
|
|
NM_032043.3(BRIP1):c.445G>A (p.Asp149Asn)
|
|
|
|
NM_032043.3(BRIP1):c.446A>G (p.Asp149Gly)
|
rs770613242
|
|
|
NM_032043.3(BRIP1):c.447T>A (p.Asp149Glu)
|
|
|
|
NM_032043.3(BRIP1):c.452A>G (p.Asn151Ser)
|
rs1555616165
|
|
|
NM_032043.3(BRIP1):c.454G>C (p.Asp152His)
|
|
|
|
NM_032043.3(BRIP1):c.455A>G (p.Asp152Gly)
|
rs2145763474
|
|
|
NM_032043.3(BRIP1):c.460T>A (p.Phe154Ile)
|
|
|
|
NM_032043.3(BRIP1):c.463C>G (p.Gln155Glu)
|
rs587781786
|
|
|
NM_032043.3(BRIP1):c.465A>G (p.Gln155=)
|
rs876659453
|
|
|
NM_032043.3(BRIP1):c.466G>T (p.Val156Leu)
|
rs876659373
|
|
|
NM_032043.3(BRIP1):c.467T>C (p.Val156Ala)
|
rs1567868429
|
|
|
NM_032043.3(BRIP1):c.469G>A (p.Glu157Lys)
|
rs2078778379
|
|
|
NM_032043.3(BRIP1):c.469G>C (p.Glu157Gln)
|
rs2078778379
|
|
|
NM_032043.3(BRIP1):c.473A>G (p.Lys158Arg)
|
rs769364081
|
|
|
NM_032043.3(BRIP1):c.475A>C (p.Lys159Gln)
|
rs2078778116
|
|
|
NM_032043.3(BRIP1):c.475A>G (p.Lys159Glu)
|
rs2078778116
|
|
|
NM_032043.3(BRIP1):c.476A>G (p.Lys159Arg)
|
rs1603362575
|
|
|
NM_032043.3(BRIP1):c.477A>C (p.Lys159Asn)
|
rs2078778020
|
|
|
NM_032043.3(BRIP1):c.478A>G (p.Arg160Gly)
|
|
|
|
NM_032043.3(BRIP1):c.479G>T (p.Arg160Ile)
|
rs1330277587
|
|
|
NM_032043.3(BRIP1):c.481A>G (p.Ile161Val)
|
rs786203916
|
|
|
NM_032043.3(BRIP1):c.485G>C (p.Arg162Pro)
|
rs61757643
|
|
|
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu)
|
rs61757643
|
|
|
NM_032043.3(BRIP1):c.487C>G (p.Pro163Ala)
|
rs1064795902
|
|
|
NM_032043.3(BRIP1):c.487C>T (p.Pro163Ser)
|
rs1064795902
|
|
|
NM_032043.3(BRIP1):c.488C>A (p.Pro163His)
|
rs2145761987
|
|
|
NM_032043.3(BRIP1):c.488C>T (p.Pro163Leu)
|
rs2145761987
|
|
|
NM_032043.3(BRIP1):c.495A>C (p.Glu165Asp)
|
rs780024960
|
|
|
NM_032043.3(BRIP1):c.499A>G (p.Thr167Ala)
|
rs1060501738
|
|
|
NM_032043.3(BRIP1):c.49T>C (p.Phe17Leu)
|
rs1603368465
|
|
|
NM_032043.3(BRIP1):c.500C>A (p.Thr167Lys)
|
rs758218234
|
|
|
NM_032043.3(BRIP1):c.500C>T (p.Thr167Ile)
|
rs758218234
|
|
|
NM_032043.3(BRIP1):c.502C>A (p.Gln168Lys)
|
rs748211848
|
|
|
NM_032043.3(BRIP1):c.506A>C (p.Gln169Pro)
|
rs2078776978
|
|
|
NM_032043.3(BRIP1):c.507+3A>G
|
|
|
|
NM_032043.3(BRIP1):c.507+6C>T
|
rs2078776834
|
|
|
NM_032043.3(BRIP1):c.507G>T (p.Gln169His)
|
rs876660937
|
|
|
NM_032043.3(BRIP1):c.508A>G (p.Ile170Val)
|
rs1603361718
|
|
|
NM_032043.3(BRIP1):c.510T>G (p.Ile170Met)
|
|
|
|
NM_032043.3(BRIP1):c.514A>G (p.Lys172Glu)
|
rs1060501765
|
|
|
NM_032043.3(BRIP1):c.518G>C (p.Arg173Pro)
|
rs761432927
|
|
|
NM_032043.3(BRIP1):c.520C>T (p.His174Tyr)
|
rs776248182
|
|
|
NM_032043.3(BRIP1):c.524G>A (p.Cys175Tyr)
|
rs2145744852
|
|
|
NM_032043.3(BRIP1):c.526T>G (p.Phe176Val)
|
rs746963627
|
|
|
NM_032043.3(BRIP1):c.527T>G (p.Phe176Cys)
|
rs2078748560
|
|
|
NM_032043.3(BRIP1):c.529G>C (p.Gly177Arg)
|
rs2078748501
|
|
|
NM_032043.3(BRIP1):c.52C>G (p.Pro18Ala)
|
|
|
|
NM_032043.3(BRIP1):c.52C>T (p.Pro18Ser)
|
rs1555618724
|
|
|
NM_032043.3(BRIP1):c.530G>A (p.Gly177Glu)
|
rs2078748443
|
|
|
NM_032043.3(BRIP1):c.532A>C (p.Thr178Pro)
|
|
|
|
NM_032043.3(BRIP1):c.533C>G (p.Thr178Arg)
|
rs876658780
|
|
|
NM_032043.3(BRIP1):c.533C>T (p.Thr178Ile)
|
rs876658780
|
|
|
NM_032043.3(BRIP1):c.536_538dup (p.Glu179dup)
|
rs1567866837
|
|
|
NM_032043.3(BRIP1):c.538G>A (p.Val180Ile)
|
rs1603361670
|
|
|
NM_032043.3(BRIP1):c.538G>C (p.Val180Leu)
|
|
|
|
NM_032043.3(BRIP1):c.542A>G (p.His181Arg)
|
rs2078748128
|
|
|
NM_032043.3(BRIP1):c.543C>A (p.His181Gln)
|
|
|
|
NM_032043.3(BRIP1):c.544A>C (p.Asn182His)
|
|
|
|
NM_032043.3(BRIP1):c.545A>G (p.Asn182Ser)
|
rs2145744130
|
|
|
NM_032043.3(BRIP1):c.549G>C (p.Leu183Phe)
|
rs1060504335
|
|
|
NM_032043.3(BRIP1):c.550G>A (p.Asp184Asn)
|
rs201047375
|
|
|
NM_032043.3(BRIP1):c.556A>C (p.Lys186Gln)
|
rs730881624
|
|
|
NM_032043.3(BRIP1):c.559G>T (p.Val187Phe)
|
rs876659064
|
|
|
NM_032043.3(BRIP1):c.560T>C (p.Val187Ala)
|
rs2078747614
|
|
|
NM_032043.3(BRIP1):c.566C>T (p.Ser189Leu)
|
rs1555615763
|
|
|
NM_032043.3(BRIP1):c.568G>A (p.Gly190Arg)
|
|
|
|
NM_032043.3(BRIP1):c.572A>G (p.Lys191Arg)
|
rs748268716
|
|
|
NM_032043.3(BRIP1):c.574A>C (p.Thr192Pro)
|
rs2078747261
|
|
|
NM_032043.3(BRIP1):c.575C>A (p.Thr192Asn)
|
rs1429063662
|
|
|
NM_032043.3(BRIP1):c.582A>T (p.Lys194Asn)
|
|
|
|
NM_032043.3(BRIP1):c.587A>C (p.Asn196Thr)
|
|
|
|
NM_032043.3(BRIP1):c.588C>G (p.Asn196Lys)
|
rs758851721
|
|
|
NM_032043.3(BRIP1):c.589T>C (p.Ser197Pro)
|
rs530897769
|
|
|
NM_032043.3(BRIP1):c.590C>A (p.Ser197Tyr)
|
rs533184563
|
|
|
NM_032043.3(BRIP1):c.590C>G (p.Ser197Cys)
|
rs533184563
|
|
|
NM_032043.3(BRIP1):c.592C>A (p.Pro198Thr)
|
|
|
|
NM_032043.3(BRIP1):c.597G>A (p.Leu199=)
|
rs2078746387
|
|
|
NM_032043.3(BRIP1):c.598G>A (p.Glu200Lys)
|
rs2078746295
|
|
|
NM_032043.3(BRIP1):c.599A>G (p.Glu200Gly)
|
rs1555615732
|
|
|
NM_032043.3(BRIP1):c.5C>T (p.Ser2Phe)
|
rs751194347
|
|
|
NM_032043.3(BRIP1):c.602A>G (p.Lys201Arg)
|
rs1555615729
|
|
|
NM_032043.3(BRIP1):c.604A>G (p.Ile202Val)
|
rs778275257
|
|
|
NM_032043.3(BRIP1):c.604A>T (p.Ile202Leu)
|
rs778275257
|
|
|
NM_032043.3(BRIP1):c.608A>G (p.Asn203Ser)
|
rs2078745913
|
|
|
NM_032043.3(BRIP1):c.610T>G (p.Ser204Ala)
|
rs761401027
|
|
|
NM_032043.3(BRIP1):c.611_613del (p.Ser204del)
|
rs1060501731
|
|
|
NM_032043.3(BRIP1):c.613T>C (p.Phe205Leu)
|
rs1603361561
|
|
|
NM_032043.3(BRIP1):c.613T>G (p.Phe205Val)
|
rs1603361561
|
|
|
NM_032043.3(BRIP1):c.620C>T (p.Pro207Leu)
|
rs2145741807
|
|
|
NM_032043.3(BRIP1):c.625A>G (p.Lys209Glu)
|
rs2078745221
|
|
|
NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg)
|
rs748912293
|
|
|
NM_032043.3(BRIP1):c.627+3A>G
|
rs777434654
|
|
|
NM_032043.3(BRIP1):c.627+6T>C
|
|
|
|
NM_032043.3(BRIP1):c.627A>G (p.Lys209=)
|
rs1555615717
|
|
|
NM_032043.3(BRIP1):c.628-2dup
|
|
|
|
NM_032043.3(BRIP1):c.628-3C>T
|
|
|
|
NM_032043.3(BRIP1):c.629C>A (p.Pro210His)
|
rs140097800
|
|
|
NM_032043.3(BRIP1):c.629C>T (p.Pro210Leu)
|
rs140097800
|
|
|
NM_032043.3(BRIP1):c.62C>A (p.Ala21Asp)
|
rs1603368436
|
|
|
NM_032043.3(BRIP1):c.62C>T (p.Ala21Val)
|
rs1603368436
|
|
|
NM_032043.3(BRIP1):c.631C>T (p.Pro211Ser)
|
rs2078117905
|
|
|
NM_032043.3(BRIP1):c.632C>T (p.Pro211Leu)
|
rs780026145
|
|
|
NM_032043.3(BRIP1):c.634G>A (p.Gly212Ser)
|
rs1555609387
|
|
|
NM_032043.3(BRIP1):c.634G>C (p.Gly212Arg)
|
rs1555609387
|
|
|
NM_032043.3(BRIP1):c.638A>C (p.His213Pro)
|
rs376760085
|
|
|
NM_032043.3(BRIP1):c.644C>A (p.Ser215Tyr)
|
rs12947398
|
|
|
NM_032043.3(BRIP1):c.644C>T (p.Ser215Phe)
|
rs12947398
|
|
|
NM_032043.3(BRIP1):c.645T>G (p.Ser215=)
|
|
|
|
NM_032043.3(BRIP1):c.646A>G (p.Arg216Gly)
|
rs2078116990
|
|
|
NM_032043.3(BRIP1):c.648G>A (p.Arg216=)
|
|
|
|
NM_032043.3(BRIP1):c.649T>A (p.Cys217Ser)
|
rs2145422887
|
|
|
NM_032043.3(BRIP1):c.64T>A (p.Tyr22Asn)
|
rs876659008
|
|
|
NM_032043.3(BRIP1):c.650G>A (p.Cys217Tyr)
|
rs587782156
|
|
|
NM_032043.3(BRIP1):c.650G>T (p.Cys217Phe)
|
rs587782156
|
|
|
NM_032043.3(BRIP1):c.653G>T (p.Cys218Phe)
|
|
|
|
NM_032043.3(BRIP1):c.653GTT[1] (p.Cys219del)
|
rs1555609353
|
|
|
NM_032043.3(BRIP1):c.654T>G (p.Cys218Trp)
|
|
|
|
NM_032043.3(BRIP1):c.656G>A (p.Cys219Tyr)
|
rs587782238
|
|
|
NM_032043.3(BRIP1):c.658T>C (p.Ser220Pro)
|
rs1555609351
|
|
|
NM_032043.3(BRIP1):c.65A>C (p.Tyr22Ser)
|
|
|
|
NM_032043.3(BRIP1):c.661A>C (p.Thr221Pro)
|
rs777618772
|
|
|
NM_032043.3(BRIP1):c.667C>G (p.Gln223Glu)
|
|
|
|
NM_032043.3(BRIP1):c.670G>C (p.Gly224Arg)
|
rs1567838486
|
|
|
NM_032043.3(BRIP1):c.671G>C (p.Gly224Ala)
|
rs990737815
|
|
|
NM_032043.3(BRIP1):c.677G>A (p.Ser226Asn)
|
rs2078115717
|
|
|
NM_032043.3(BRIP1):c.67C>A (p.Pro23Thr)
|
rs1603368425
|
|
|
NM_032043.3(BRIP1):c.67C>G (p.Pro23Ala)
|
rs1603368425
|
|
|
NM_032043.3(BRIP1):c.683A>G (p.Glu228Gly)
|
|
|
|
NM_032043.3(BRIP1):c.684G>T (p.Glu228Asp)
|
rs876659909
|
|
|
NM_032043.3(BRIP1):c.685T>C (p.Ser229Pro)
|
rs2145421239
|
|
|
NM_032043.3(BRIP1):c.688T>C (p.Ser230Pro)
|
rs2145421148
|
|
|
NM_032043.3(BRIP1):c.68C>G (p.Pro23Arg)
|
|
|
|
NM_032043.3(BRIP1):c.694A>C (p.Thr232Pro)
|
rs2078115132
|
|
|
NM_032043.3(BRIP1):c.695C>G (p.Thr232Ser)
|
rs762781085
|
|
|
NM_032043.3(BRIP1):c.697A>G (p.Ile233Val)
|
rs769535320
|
|
|
NM_032043.3(BRIP1):c.700A>C (p.Lys234Gln)
|
rs1060501780
|
|
|
NM_032043.3(BRIP1):c.700A>G (p.Lys234Glu)
|
rs1060501780
|
|
|
NM_032043.3(BRIP1):c.700AAG[1] (p.Lys235del)
|
rs876659379
|
|
|
NM_032043.3(BRIP1):c.701A>C (p.Lys234Thr)
|
rs587780834
|
|
|
NM_032043.3(BRIP1):c.706G>C (p.Asp236His)
|
rs1555609300
|
|
|
NM_032043.3(BRIP1):c.707A>T (p.Asp236Val)
|
rs1567838306
|
|
|
NM_032043.3(BRIP1):c.710A>G (p.His237Arg)
|
rs1567838288
|
|
|
NM_032043.3(BRIP1):c.712A>G (p.Thr238Ala)
|
rs1490001091
|
|
|
NM_032043.3(BRIP1):c.719A>C (p.Lys240Thr)
|
rs1350322711
|
|
|
NM_032043.3(BRIP1):c.719A>T (p.Lys240Ile)
|
rs1350322711
|
|
|
NM_032043.3(BRIP1):c.71C>T (p.Ser24Leu)
|
rs1567878087
|
|
|
NM_032043.3(BRIP1):c.721T>A (p.Ser241Thr)
|
|
|
|
NM_032043.3(BRIP1):c.725A>G (p.Lys242Arg)
|
rs876660647
|
|
|
NM_032043.3(BRIP1):c.726G>T (p.Lys242Asn)
|
|
|
|
NM_032043.3(BRIP1):c.726_734del (p.Pro244_Ile246del)
|
|
|
|
NM_032043.3(BRIP1):c.727A>T (p.Ile243Leu)
|
rs2078113517
|
|
|
NM_032043.3(BRIP1):c.730C>G (p.Pro244Ala)
|
|
|
|
NM_032043.3(BRIP1):c.730_738del (p.Pro244_Ile246del)
|
rs1603346861
|
|
|
NM_032043.3(BRIP1):c.731C>G (p.Pro244Arg)
|
rs2145419213
|
|
|
NM_032043.3(BRIP1):c.734A>G (p.Lys245Arg)
|
rs1064795594
|
|
|
NM_032043.3(BRIP1):c.735A>C (p.Lys245Asn)
|
|
|
|
NM_032043.3(BRIP1):c.736A>C (p.Ile246Leu)
|
rs376893571
|
|
|
NM_032043.3(BRIP1):c.736A>T (p.Ile246Leu)
|
rs376893571
|
|
|
NM_032043.3(BRIP1):c.737T>G (p.Ile246Arg)
|
|
|
|
NM_032043.3(BRIP1):c.73_74insGAC (p.Ser24_Gln25insArg)
|
rs2145864048
|
|
|
NM_032043.3(BRIP1):c.743T>C (p.Phe248Ser)
|
rs2078112912
|
|
|
NM_032043.3(BRIP1):c.746G>A (p.Gly249Glu)
|
rs2078112856
|
|
|
NM_032043.3(BRIP1):c.748A>T (p.Thr250Ser)
|
rs2078112756
|
|
|
NM_032043.3(BRIP1):c.749C>G (p.Thr250Arg)
|
rs1555609275
|
|
|
NM_032043.3(BRIP1):c.752G>C (p.Arg251Pro)
|
rs780834054
|
|
|
NM_032043.3(BRIP1):c.754A>C (p.Thr252Pro)
|
|
|
|
NM_032043.3(BRIP1):c.754A>G (p.Thr252Ala)
|
rs1567838131
|
|
|
NM_032043.3(BRIP1):c.755C>T (p.Thr252Ile)
|
rs1567838124
|
|
|
NM_032043.3(BRIP1):c.757C>G (p.His253Asp)
|
rs2078112338
|
|
|
NM_032043.3(BRIP1):c.758A>G (p.His253Arg)
|
rs2078112284
|
|
|
NM_032043.3(BRIP1):c.759C>G (p.His253Gln)
|
|
|
|
NM_032043.3(BRIP1):c.761A>G (p.Lys254Arg)
|
rs2145417925
|
|
|
NM_032043.3(BRIP1):c.764A>C (p.Gln255Pro)
|
rs1567838107
|
|
|
NM_032043.3(BRIP1):c.764A>G (p.Gln255Arg)
|
rs1567838107
|
|
|
NM_032043.3(BRIP1):c.766A>G (p.Ile256Val)
|
rs2145417649
|
|
|
NM_032043.3(BRIP1):c.769G>A (p.Ala257Thr)
|
rs754515912
|
|
|
NM_032043.3(BRIP1):c.769_777dup (p.Ala257_Ile259dup)
|
rs1603346813
|
|
|
NM_032043.3(BRIP1):c.770C>T (p.Ala257Val)
|
rs1555609260
|
|
|
NM_032043.3(BRIP1):c.773A>C (p.Gln258Pro)
|
rs1567838078
|
|
|
NM_032043.3(BRIP1):c.775A>G (p.Ile259Val)
|
rs2145417254
|
|
|
NM_032043.3(BRIP1):c.775A>T (p.Ile259Phe)
|
|
|
|
NM_032043.3(BRIP1):c.77T>C (p.Leu26Pro)
|
rs1603368414
|
|
|
NM_032043.3(BRIP1):c.77T>G (p.Leu26Arg)
|
rs1603368414
|
|
|
NM_032043.3(BRIP1):c.781A>G (p.Arg261Gly)
|
rs2078111313
|
|
|
NM_032043.3(BRIP1):c.783A>T (p.Arg261Ser)
|
rs1441703380
|
|
|
NM_032043.3(BRIP1):c.784G>A (p.Glu262Lys)
|
rs2145416868
|
|
|
NM_032043.3(BRIP1):c.785A>C (p.Glu262Ala)
|
rs876658283
|
|
|
NM_032043.3(BRIP1):c.786G>T (p.Glu262Asp)
|
|
|
|
NM_032043.3(BRIP1):c.787C>G (p.Leu263Val)
|
rs1060501776
|
|
|
NM_032043.3(BRIP1):c.788T>C (p.Leu263Pro)
|
|
|
|
NM_032043.3(BRIP1):c.790C>G (p.Arg264Gly)
|
rs28997569
|
|
|
NM_032043.3(BRIP1):c.793A>G (p.Arg265Gly)
|
rs876659650
|
|
|
NM_032043.3(BRIP1):c.795G>T (p.Arg265Ser)
|
rs61754143
|
|
|
NM_032043.3(BRIP1):c.800C>T (p.Ala267Val)
|
rs730881631
|
|
|
NM_032043.3(BRIP1):c.803A>G (p.Tyr268Cys)
|
rs2078110465
|
|
|
NM_032043.3(BRIP1):c.805T>C (p.Ser269Pro)
|
rs2078110345
|
|
|
NM_032043.3(BRIP1):c.806C>T (p.Ser269Leu)
|
rs1412610651
|
|
|
NM_032043.3(BRIP1):c.808G>A (p.Gly270Arg)
|
rs1401241698
|
|
|
NM_032043.3(BRIP1):c.815C>T (p.Pro272Leu)
|
|
|
|
NM_032043.3(BRIP1):c.817A>C (p.Met273Leu)
|
rs587781797
|
|
|
NM_032043.3(BRIP1):c.817A>G (p.Met273Val)
|
rs587781797
|
|
|
NM_032043.3(BRIP1):c.819_824del (p.Met273_Thr274del)
|
rs2145414960
|
|
|
NM_032043.3(BRIP1):c.823A>C (p.Ile275Leu)
|
|
|
|
NM_032043.3(BRIP1):c.823A>T (p.Ile275Phe)
|
rs587781425
|
|
|
NM_032043.3(BRIP1):c.826C>T (p.Leu276Phe)
|
|
|
|
NM_032043.3(BRIP1):c.82A>G (p.Met28Val)
|
rs1330147176
|
|
|
NM_032043.3(BRIP1):c.82A>T (p.Met28Leu)
|
rs1330147176
|
|
|
NM_032043.3(BRIP1):c.832A>C (p.Ser278Arg)
|
rs1567837876
|
|
|
NM_032043.3(BRIP1):c.832A>G (p.Ser278Gly)
|
rs1567837876
|
|
|
NM_032043.3(BRIP1):c.836G>A (p.Arg279Lys)
|
|
|
|
NM_032043.3(BRIP1):c.837G>C (p.Arg279Ser)
|
rs759584091
|
|
|
NM_032043.3(BRIP1):c.837G>T (p.Arg279Ser)
|
rs759584091
|
|
|
NM_032043.3(BRIP1):c.838G>T (p.Asp280Tyr)
|
rs2078109366
|
|
|
NM_032043.3(BRIP1):c.839A>T (p.Asp280Val)
|
|
|
|
NM_032043.3(BRIP1):c.83T>A (p.Met28Lys)
|
rs786202674
|
|
|
NM_032043.3(BRIP1):c.841C>A (p.His281Asn)
|
rs1064795442
|
|
|
NM_032043.3(BRIP1):c.842A>C (p.His281Pro)
|
rs1603346710
|
|
|
NM_032043.3(BRIP1):c.842A>G (p.His281Arg)
|
|
|
|
NM_032043.3(BRIP1):c.845C>T (p.Thr282Ile)
|
rs45624635
|
|
|
NM_032043.3(BRIP1):c.847T>C (p.Cys283Arg)
|
rs1555609186
|
|
|
NM_032043.3(BRIP1):c.847T>G (p.Cys283Gly)
|
rs1555609186
|
|
|
NM_032043.3(BRIP1):c.848G>A (p.Cys283Tyr)
|
rs771096783
|
|
|
NM_032043.3(BRIP1):c.848G>T (p.Cys283Phe)
|
rs771096783
|
|
|
NM_032043.3(BRIP1):c.851T>C (p.Val284Ala)
|
|
|
|
NM_032043.3(BRIP1):c.854A>C (p.His285Pro)
|
rs141055990
|
|
|
NM_032043.3(BRIP1):c.856C>T (p.Pro286Ser)
|
rs770289817
|
|
|
NM_032043.3(BRIP1):c.857C>G (p.Pro286Arg)
|
rs2078108519
|
|
|
NM_032043.3(BRIP1):c.85A>G (p.Met29Val)
|
rs2078971287
|
|
|
NM_032043.3(BRIP1):c.861G>C (p.Glu287Asp)
|
rs1603346684
|
|
|
NM_032043.3(BRIP1):c.863T>C (p.Val288Ala)
|
rs1375475281
|
|
|
NM_032043.3(BRIP1):c.865G>A (p.Val289Ile)
|
rs1567837768
|
|
|
NM_032043.3(BRIP1):c.865G>C (p.Val289Leu)
|
rs1567837768
|
|
|
NM_032043.3(BRIP1):c.866T>G (p.Val289Gly)
|
rs2078108215
|
|
|
NM_032043.3(BRIP1):c.868G>A (p.Gly290Ser)
|
rs145601931
|
|
|
NM_032043.3(BRIP1):c.869G>C (p.Gly290Ala)
|
rs148556781
|
|
|
NM_032043.3(BRIP1):c.87G>T (p.Met29Ile)
|
rs769585673
|
|
|
NM_032043.3(BRIP1):c.886G>A (p.Glu296Lys)
|
rs876660125
|
|
|
NM_032043.3(BRIP1):c.887A>C (p.Glu296Ala)
|
rs878855158
|
|
|
NM_032043.3(BRIP1):c.888G>C (p.Glu296Asp)
|
rs876658249
|
|
|
NM_032043.3(BRIP1):c.889A>C (p.Lys297Gln)
|
rs876658528
|
|
|
NM_032043.3(BRIP1):c.88A>C (p.Asn30His)
|
|
|
|
NM_032043.3(BRIP1):c.890A>C (p.Lys297Thr)
|
rs28997570
|
|
|
NM_032043.3(BRIP1):c.890A>T (p.Lys297Met)
|
|
|
|
NM_032043.3(BRIP1):c.892T>C (p.Cys298Arg)
|
rs1555609145
|
|
|
NM_032043.3(BRIP1):c.893G>A (p.Cys298Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.894C>G (p.Cys298Trp)
|
|
|
|
NM_032043.3(BRIP1):c.894C>T (p.Cys298=)
|
rs2078107086
|
|
|
NM_032043.3(BRIP1):c.895A>C (p.Met299Leu)
|
|
|
|
NM_032043.3(BRIP1):c.895A>G (p.Met299Val)
|
rs1242769076
|
|
|
NM_032043.3(BRIP1):c.896T>C (p.Met299Thr)
|
rs2078106961
|
|
|
NM_032043.3(BRIP1):c.897G>A (p.Met299Ile)
|
rs137852985
|
|
|
NM_032043.3(BRIP1):c.8C>A (p.Ser3Ter)
|
rs1603368491
|
|
|
NM_032043.3(BRIP1):c.901T>G (p.Leu301Val)
|
|
|
|
NM_032043.3(BRIP1):c.902T>C (p.Leu301Ser)
|
rs750376292
|
|
|
NM_032043.3(BRIP1):c.905T>C (p.Leu302Pro)
|
|
|
|
NM_032043.3(BRIP1):c.907G>T (p.Asp303Tyr)
|
rs2145410870
|
|
|
NM_032043.3(BRIP1):c.908A>G (p.Asp303Gly)
|
rs1555609130
|
|
|
NM_032043.3(BRIP1):c.910G>A (p.Gly304Arg)
|
rs1567837588
|
|
|
NM_032043.3(BRIP1):c.911G>A (p.Gly304Glu)
|
rs1459305482
|
|
|
NM_032043.3(BRIP1):c.914A>C (p.Lys305Thr)
|
|
|
|
NM_032043.3(BRIP1):c.917A>G (p.Asn306Ser)
|
rs1567837564
|
|
|
NM_032043.3(BRIP1):c.918+5G>A
|
rs2078106072
|
|
|
NM_032043.3(BRIP1):c.919-10T>A
|
|
|
|
NM_032043.3(BRIP1):c.919-3T>C
|
rs2077994124
|
|
|
NM_032043.3(BRIP1):c.920G>A (p.Gly307Glu)
|
rs1603343427
|
|
|
NM_032043.3(BRIP1):c.920G>C (p.Gly307Ala)
|
rs1603343427
|
|
|
NM_032043.3(BRIP1):c.926C>A (p.Ser309Tyr)
|
rs2077993753
|
|
|
NM_032043.3(BRIP1):c.926C>T (p.Ser309Phe)
|
rs2077993753
|
|
|
NM_032043.3(BRIP1):c.929G>A (p.Cys310Tyr)
|
rs1567832184
|
|
|
NM_032043.3(BRIP1):c.929G>C (p.Cys310Ser)
|
rs1567832184
|
|
|
NM_032043.3(BRIP1):c.929_931del (p.Cys310del)
|
rs2145342477
|
|
|
NM_032043.3(BRIP1):c.93+3A>C
|
|
|
|
NM_032043.3(BRIP1):c.93+4A>T
|
|
|
|
NM_032043.3(BRIP1):c.93+5G>A
|
rs730881629
|
|
|
NM_032043.3(BRIP1):c.93+6T>C
|
rs2078970954
|
|
|
NM_032043.3(BRIP1):c.931T>C (p.Tyr311His)
|
rs1603343412
|
|
|
NM_032043.3(BRIP1):c.932A>T (p.Tyr311Phe)
|
rs587782731
|
|
|
NM_032043.3(BRIP1):c.934T>A (p.Phe312Ile)
|
rs2145342258
|
|
|
NM_032043.3(BRIP1):c.93T>C (p.Ser31=)
|
rs1555618697
|
|
|
NM_032043.3(BRIP1):c.94-5C>G
|
rs2078952191
|
|
|
NM_032043.3(BRIP1):c.940C>T (p.His314Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.941A>G (p.His314Arg)
|
rs112076926
|
|
|
NM_032043.3(BRIP1):c.944G>A (p.Gly315Glu)
|
rs867548960
|
|
|
NM_032043.3(BRIP1):c.944G>T (p.Gly315Val)
|
rs867548960
|
|
|
NM_032043.3(BRIP1):c.945A>G (p.Gly315=)
|
|
|
|
NM_032043.3(BRIP1):c.949C>G (p.His317Asp)
|
|
|
|
NM_032043.3(BRIP1):c.94A>T (p.Ile32Phe)
|
rs776386693
|
|
|
NM_032043.3(BRIP1):c.953A>G (p.Lys318Arg)
|
rs2077992906
|
|
|
NM_032043.3(BRIP1):c.958A>G (p.Ser320Gly)
|
rs2145341128
|
|
|
NM_032043.3(BRIP1):c.961G>A (p.Asp321Asn)
|
|
|
|
NM_032043.3(BRIP1):c.962A>G (p.Asp321Gly)
|
rs2077992652
|
|
|
NM_032043.3(BRIP1):c.965A>G (p.Gln322Arg)
|
rs1567832102
|
|
|
NM_032043.3(BRIP1):c.967C>T (p.His323Tyr)
|
rs2077992477
|
|
|
NM_032043.3(BRIP1):c.969C>A (p.His323Gln)
|
rs1555607775
|
|
|
NM_032043.3(BRIP1):c.969C>G (p.His323Gln)
|
rs1555607775
|
|
|
NM_032043.3(BRIP1):c.975A>T (p.Leu325Phe)
|
rs771630777
|
|
|
NM_032043.3(BRIP1):c.976C>G (p.Gln326Glu)
|
rs1555607768
|
|
|
NM_032043.3(BRIP1):c.977A>G (p.Gln326Arg)
|
rs1064794046
|
|
|
NM_032043.3(BRIP1):c.97C>G (p.Leu33Val)
|
|
|
|
NM_032043.3(BRIP1):c.980C>T (p.Thr327Ile)
|
rs2145339793
|
|
|
NM_032043.3(BRIP1):c.983T>A (p.Phe328Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.983T>C (p.Phe328Ser)
|
rs876659057
|
|
|
NM_032043.3(BRIP1):c.986A>G (p.Gln329Arg)
|
rs778863018
|
|
|
NM_032043.3(BRIP1):c.992T>A (p.Met331Lys)
|
|
|
|
NM_032043.3(BRIP1):c.993G>A (p.Met331Ile)
|
rs587780252
|
|
|
NM_032043.3(BRIP1):c.995G>A (p.Cys332Tyr)
|
rs876660521
|
|
|
NM_032043.3(BRIP1):c.997A>G (p.Lys333Glu)
|
rs757196702
|
|
|
NM_032043.3(BRIP1):c.998A>G (p.Lys333Arg)
|
rs2145338700
|
|
|
NM_032444.4(SLX4):c.1010C>A (p.Pro337Gln)
|
rs200363140
|
|
|
NM_032444.4(SLX4):c.1018G>A (p.Gly340Arg)
|
|
|
|
NM_032444.4(SLX4):c.1019G>C (p.Gly340Ala)
|
|
|
|
NM_032444.4(SLX4):c.101A>T (p.Gln34Leu)
|
rs1567178416
|
|
|
NM_032444.4(SLX4):c.1025C>T (p.Pro342Leu)
|
|
|
|
NM_032444.4(SLX4):c.103C>T (p.Pro35Ser)
|
rs2040816588
|
|
|
NM_032444.4(SLX4):c.1055A>G (p.His352Arg)
|
|
|
|
NM_032444.4(SLX4):c.1059G>C (p.Leu353Phe)
|
rs1431335924
|
|
|
NM_032444.4(SLX4):c.1062G>T (p.Lys354Asn)
|
rs2151134083
|
|
|
NM_032444.4(SLX4):c.1076A>T (p.Lys359Met)
|
rs2151134068
|
|
|
NM_032444.4(SLX4):c.107A>T (p.Glu36Val)
|
rs370082083
|
|
|
NM_032444.4(SLX4):c.1080G>A (p.Met360Ile)
|
|
|
|
NM_032444.4(SLX4):c.1083G>C (p.Glu361Asp)
|
rs1361684518
|
|
|
NM_032444.4(SLX4):c.1084G>C (p.Val362Leu)
|
rs2040721687
|
|
|
NM_032444.4(SLX4):c.1090C>T (p.Pro364Ser)
|
rs775276756
|
|
|
NM_032444.4(SLX4):c.1091C>A (p.Pro364His)
|
|
|
|
NM_032444.4(SLX4):c.1094A>G (p.Gln365Arg)
|
rs1243083910
|
|
|
NM_032444.4(SLX4):c.1094A>T (p.Gln365Leu)
|
|
|
|
NM_032444.4(SLX4):c.1097_1098delinsAA (p.Leu366Gln)
|
rs2151134024
|
|
|
NM_032444.4(SLX4):c.1108G>C (p.Ala370Pro)
|
|
|
|
NM_032444.4(SLX4):c.1114C>T (p.Arg372Trp)
|
rs781393524
|
|
|
NM_032444.4(SLX4):c.1130A>G (p.Gln377Arg)
|
|
|
|
NM_032444.4(SLX4):c.1141AGC[2] (p.Ser383del)
|
rs938490986
|
|
|
NM_032444.4(SLX4):c.1142G>A (p.Ser381Asn)
|
rs2040720721
|
|
|
NM_032444.4(SLX4):c.1151_1152inv (p.Pro384Leu)
|
|
|
|
NM_032444.4(SLX4):c.1175A>C (p.His392Pro)
|
rs2151132152
|
|
|
NM_032444.4(SLX4):c.1186C>G (p.Leu396Val)
|
rs1596528058
|
|
|
NM_032444.4(SLX4):c.1195A>G (p.Arg399Gly)
|
rs2040685339
|
|
|
NM_032444.4(SLX4):c.1207_1208delinsCC (p.Ser403Pro)
|
|
|
|
NM_032444.4(SLX4):c.1212G>C (p.Lys404Asn)
|
|
|
|
NM_032444.4(SLX4):c.1226A>G (p.Lys409Arg)
|
rs2151132042
|
|
|
NM_032444.4(SLX4):c.1237G>C (p.Val413Leu)
|
|
|
|
NM_032444.4(SLX4):c.1246G>A (p.Ala416Thr)
|
rs1273526453
|
|
|
NM_032444.4(SLX4):c.1250C>T (p.Pro417Leu)
|
|
|
|
NM_032444.4(SLX4):c.1259A>G (p.Asp420Gly)
|
rs1596527931
|
|
|
NM_032444.4(SLX4):c.1274T>C (p.Met425Thr)
|
|
|
|
NM_032444.4(SLX4):c.1276G>T (p.Ala426Ser)
|
|
|
|
NM_032444.4(SLX4):c.1283C>T (p.Ser428Phe)
|
|
|
|
NM_032444.4(SLX4):c.1286G>A (p.Arg429Gln)
|
|
|
|
NM_032444.4(SLX4):c.1286G>T (p.Arg429Leu)
|
|
|
|
NM_032444.4(SLX4):c.1298A>G (p.Glu433Gly)
|
rs2151131871
|
|
|
NM_032444.4(SLX4):c.1302G>A (p.Pro434=)
|
|
|
|
NM_032444.4(SLX4):c.1322T>A (p.Leu441His)
|
rs2040681820
|
|
|
NM_032444.4(SLX4):c.1322T>C (p.Leu441Pro)
|
|
|
|
NM_032444.4(SLX4):c.1334G>A (p.Ser445Asn)
|
rs2151131780
|
|
|
NM_032444.4(SLX4):c.1352T>A (p.Ile451Lys)
|
rs1380174760
|
|
|
NM_032444.4(SLX4):c.1366+16A>T
|
|
|
|
NM_032444.4(SLX4):c.1366+4T>C
|
|
|
|
NM_032444.4(SLX4):c.1366+6T>C
|
rs756854257
|
|
|
NM_032444.4(SLX4):c.1373A>G (p.Lys458Arg)
|
|
|
|
NM_032444.4(SLX4):c.1379G>T (p.Arg460Leu)
|
rs369994733
|
|
|
NM_032444.4(SLX4):c.1390C>A (p.Pro464Thr)
|
rs2040679198
|
|
|
NM_032444.4(SLX4):c.1396G>A (p.Val466Ile)
|
|
|
|
NM_032444.4(SLX4):c.139T>G (p.Ser47Ala)
|
|
|
|
NM_032444.4(SLX4):c.1400C>A (p.Ser467Tyr)
|
|
|
|
NM_032444.4(SLX4):c.1400C>T (p.Ser467Phe)
|
|
|
|
NM_032444.4(SLX4):c.1405C>A (p.Pro469Thr)
|
rs763833617
|
|
|
NM_032444.4(SLX4):c.1405C>T (p.Pro469Ser)
|
rs763833617
|
|
|
NM_032444.4(SLX4):c.1421A>G (p.Gln474Arg)
|
|
|
|
NM_032444.4(SLX4):c.1438G>A (p.Gly480Ser)
|
rs2151131486
|
|
|
NM_032444.4(SLX4):c.1444C>G (p.Gln482Glu)
|
rs1567174047
|
|
|
NM_032444.4(SLX4):c.1448T>C (p.Ile483Thr)
|
|
|
|
NM_032444.4(SLX4):c.1450G>A (p.Glu484Lys)
|
|
|
|
NM_032444.4(SLX4):c.1475C>G (p.Ser492Cys)
|
|
|
|
NM_032444.4(SLX4):c.1498A>C (p.Thr500Pro)
|
|
|
|
NM_032444.4(SLX4):c.1499C>A (p.Thr500Lys)
|
|
|
|
NM_032444.4(SLX4):c.1507C>T (p.Leu503Phe)
|
|
|
|
NM_032444.4(SLX4):c.1546G>T (p.Ala516Ser)
|
rs1260563876
|
|
|
NM_032444.4(SLX4):c.1550G>A (p.Gly517Asp)
|
rs772562892
|
|
|
NM_032444.4(SLX4):c.1553A>G (p.Gln518Arg)
|
|
|
|
NM_032444.4(SLX4):c.1557TCC[2] (p.Pro523del)
|
rs761510940
|
|
|
NM_032444.4(SLX4):c.1559C>G (p.Pro520Arg)
|
|
|
|
NM_032444.4(SLX4):c.1568C>G (p.Pro523Arg)
|
rs2040675640
|
|
|
NM_032444.4(SLX4):c.1571A>T (p.Glu524Val)
|
|
|
|
NM_032444.4(SLX4):c.1594G>A (p.Glu532Lys)
|
rs2040675047
|
|
|
NM_032444.4(SLX4):c.1596G>C (p.Glu532Asp)
|
rs2151131185
|
|
|
NM_032444.4(SLX4):c.1598G>T (p.Gly533Val)
|
rs369243098
|
|
|
NM_032444.4(SLX4):c.1615G>A (p.Ala539Thr)
|
rs772612094
|
|
|
NM_032444.4(SLX4):c.1629_1630delinsAC (p.Asp544His)
|
rs2040674138
|
|
|
NM_032444.4(SLX4):c.1643C>G (p.Ala548Gly)
|
|
|
|
NM_032444.4(SLX4):c.1646G>C (p.Arg549Thr)
|
|
|
|
NM_032444.4(SLX4):c.1655C>T (p.Pro552Leu)
|
|
|
|
NM_032444.4(SLX4):c.1663G>A (p.Val555Met)
|
rs763869769
|
|
|
NM_032444.4(SLX4):c.1672C>T (p.Arg558Trp)
|
rs372264472
|
|
|
NM_032444.4(SLX4):c.1673G>T (p.Arg558Leu)
|
|
|
|
NM_032444.4(SLX4):c.1683+20C>T
|
rs776626195
|
|
|
NM_032444.4(SLX4):c.1692G>A (p.Met564Ile)
|
rs2151130279
|
|
|
NM_032444.4(SLX4):c.16A>T (p.Asn6Tyr)
|
rs1420004804
|
|
|
NM_032444.4(SLX4):c.1705C>T (p.Pro569Ser)
|
|
|
|
NM_032444.4(SLX4):c.1720C>G (p.Pro574Ala)
|
rs2040659325
|
|
|
NM_032444.4(SLX4):c.1738A>G (p.Ser580Gly)
|
|
|
|
NM_032444.4(SLX4):c.1748G>A (p.Arg583Lys)
|
rs750768695
|
|
|
NM_032444.4(SLX4):c.1748G>C (p.Arg583Thr)
|
|
|
|
NM_032444.4(SLX4):c.1759C>T (p.Leu587Phe)
|
|
|
|
NM_032444.4(SLX4):c.1766G>T (p.Gly589Val)
|
|
|
|
NM_032444.4(SLX4):c.1790C>G (p.Ser597Cys)
|
|
|
|
NM_032444.4(SLX4):c.1796G>A (p.Gly599Asp)
|
|
|
|
NM_032444.4(SLX4):c.1799C>A (p.Pro600Gln)
|
rs749277750
|
|
|
NM_032444.4(SLX4):c.1799C>T (p.Pro600Leu)
|
rs749277750
|
|
|
NM_032444.4(SLX4):c.1808C>G (p.Ser603Trp)
|
|
|
|
NM_032444.4(SLX4):c.1824G>T (p.Glu608Asp)
|
rs1028896815
|
|
|
NM_032444.4(SLX4):c.1844T>C (p.Leu615Pro)
|
|
|
|
NM_032444.4(SLX4):c.1880C>T (p.Pro627Leu)
|
rs774683778
|
|
|
NM_032444.4(SLX4):c.1892G>C (p.Ser631Thr)
|
rs2151129871
|
|
|
NM_032444.4(SLX4):c.1893T>G (p.Ser631Arg)
|
|
|
|
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val)
|
rs1056085
|
|
|
NM_032444.4(SLX4):c.1904C>A (p.Ala635Asp)
|
|
|
|
NM_032444.4(SLX4):c.1913A>C (p.Glu638Ala)
|
|
|
|
NM_032444.4(SLX4):c.1917G>T (p.Gly639=)
|
|
|
|
NM_032444.4(SLX4):c.1925-3C>T
|
rs1567172965
|
|
|
NM_032444.4(SLX4):c.192A>C (p.Lys64Asn)
|
rs756720856
|
|
|
NM_032444.4(SLX4):c.1948C>T (p.Leu650Phe)
|
|
|
|
NM_032444.4(SLX4):c.1964T>C (p.Phe655Ser)
|
rs1567172921
|
|
|
NM_032444.4(SLX4):c.1969G>T (p.Val657Leu)
|
|
|
|
NM_032444.4(SLX4):c.1991C>A (p.Pro664Gln)
|
|
|
|
NM_032444.4(SLX4):c.2002G>A (p.Gly668Ser)
|
|
|
|
NM_032444.4(SLX4):c.2013+5G>T
|
|
|
|
NM_032444.4(SLX4):c.2013+6A>C
|
rs2151129261
|
|
|
NM_032444.4(SLX4):c.2014-3C>T
|
|
|
|
NM_032444.4(SLX4):c.2014C>T (p.Leu672Phe)
|
|
|
|
NM_032444.4(SLX4):c.2023G>C (p.Gly675Arg)
|
rs767473953
|
|
|
NM_032444.4(SLX4):c.2027T>C (p.Leu676Pro)
|
|
|
|
NM_032444.4(SLX4):c.202A>G (p.Lys68Glu)
|
|
|
|
NM_032444.4(SLX4):c.2045G>T (p.Gly682Val)
|
rs765804056
|
|
|
NM_032444.4(SLX4):c.2047G>C (p.Ala683Pro)
|
rs115866745
|
|
|
NM_032444.4(SLX4):c.2054T>G (p.Val685Gly)
|
|
|
|
NM_032444.4(SLX4):c.2057A>G (p.Asn686Ser)
|
rs571330689
|
|
|
NM_032444.4(SLX4):c.2072G>A (p.Ser691Asn)
|
rs1596525216
|
|
|
NM_032444.4(SLX4):c.208G>C (p.Val70Leu)
|
|
|
|
NM_032444.4(SLX4):c.2093A>C (p.Asp698Ala)
|
|
|
|
NM_032444.4(SLX4):c.2117A>T (p.His706Leu)
|
rs2151128459
|
|
|
NM_032444.4(SLX4):c.2120A>G (p.Lys707Arg)
|
rs1555450869
|
|
|
NM_032444.4(SLX4):c.2150T>C (p.Leu717Pro)
|
rs1596525067
|
|
|
NM_032444.4(SLX4):c.2160+8C>A
|
|
|
|
NM_032444.4(SLX4):c.2160T>C (p.Tyr720=)
|
|
|
|
NM_032444.4(SLX4):c.2161-6C>A
|
rs2151127337
|
|
|
NM_032444.4(SLX4):c.2185G>A (p.Val729Ile)
|
|
|
|
NM_032444.4(SLX4):c.2191G>A (p.Asp731Asn)
|
|
|
|
NM_032444.4(SLX4):c.2194G>A (p.Gly732Arg)
|
rs202189103
|
|
|
NM_032444.4(SLX4):c.2197G>C (p.Val733Leu)
|
rs1555450668
|
|
|
NM_032444.4(SLX4):c.2209C>T (p.Arg737Cys)
|
rs140706384
|
|
|
NM_032444.4(SLX4):c.2222G>A (p.Gly741Asp)
|
|
|
|
NM_032444.4(SLX4):c.2231G>A (p.Ser744Asn)
|
rs1307528536
|
|
|
NM_032444.4(SLX4):c.2246G>T (p.Arg749Leu)
|
|
|
|
NM_032444.4(SLX4):c.2251T>G (p.Phe751Val)
|
|
|
|
NM_032444.4(SLX4):c.2261A>G (p.Tyr754Cys)
|
rs771002901
|
|
|
NM_032444.4(SLX4):c.2264T>C (p.Leu755Pro)
|
|
|
|
NM_032444.4(SLX4):c.2278A>G (p.Thr760Ala)
|
rs2040607353
|
|
|
NM_032444.4(SLX4):c.230A>G (p.Gln77Arg)
|
|
|
|
NM_032444.4(SLX4):c.2335G>C (p.Val779Leu)
|
rs768126392
|
|
|
NM_032444.4(SLX4):c.2347G>A (p.Val783Ile)
|
rs771580450
|
|
|
NM_032444.4(SLX4):c.2357G>A (p.Cys786Tyr)
|
rs1282868817
|
|
|
NM_032444.4(SLX4):c.2363A>G (p.Gln788Arg)
|
|
|
|
NM_032444.4(SLX4):c.2363A>T (p.Gln788Leu)
|
rs748659860
|
|
|
NM_032444.4(SLX4):c.2364G>C (p.Gln788His)
|
|
|
|
NM_032444.4(SLX4):c.2368C>T (p.Pro790Ser)
|
|
|
|
NM_032444.4(SLX4):c.2372T>G (p.Ile791Ser)
|
rs2040591427
|
|
|
NM_032444.4(SLX4):c.2401GAG[1] (p.Glu802del)
|
rs2151125964
|
|
|
NM_032444.4(SLX4):c.2416G>C (p.Glu806Gln)
|
|
|
|
NM_032444.4(SLX4):c.2418G>T (p.Glu806Asp)
|
rs2151125944
|
|
|
NM_032444.4(SLX4):c.2435C>T (p.Ala812Val)
|
|
|
|
NM_032444.4(SLX4):c.2441A>G (p.Asn814Ser)
|
rs777299783
|
|
|
NM_032444.4(SLX4):c.2451A>C (p.Glu817Asp)
|
|
|
|
NM_032444.4(SLX4):c.2473G>T (p.Asp825Tyr)
|
|
|
|
NM_032444.4(SLX4):c.2478_2480del (p.Glu829del)
|
|
|
|
NM_032444.4(SLX4):c.2480A>G (p.Glu827Gly)
|
rs1488400493
|
|
|
NM_032444.4(SLX4):c.248G>A (p.Gly83Asp)
|
|
|
|
NM_032444.4(SLX4):c.248G>C (p.Gly83Ala)
|
rs771698977
|
|
|
NM_032444.4(SLX4):c.2494A>G (p.Thr832Ala)
|
rs1345752601
|
|
|
NM_032444.4(SLX4):c.2510A>G (p.Lys837Arg)
|
rs2151125769
|
|
|
NM_032444.4(SLX4):c.2517C>G (p.His839Gln)
|
|
|
|
NM_032444.4(SLX4):c.2520AGA[1] (p.Glu841del)
|
rs2151125733
|
|
|
NM_032444.4(SLX4):c.2535C>A (p.Asn845Lys)
|
|
|
|
NM_032444.4(SLX4):c.2536G>A (p.Val846Met)
|
|
|
|
NM_032444.4(SLX4):c.254A>G (p.Gln85Arg)
|
rs878855160
|
|
|
NM_032444.4(SLX4):c.2553G>A (p.Met851Ile)
|
rs2040587848
|
|
|
NM_032444.4(SLX4):c.256A>T (p.Ile86Leu)
|
|
|
|
NM_032444.4(SLX4):c.2576C>G (p.Ala859Gly)
|
|
|
|
NM_032444.4(SLX4):c.2620G>C (p.Gly874Arg)
|
rs113420526
|
|
|
NM_032444.4(SLX4):c.2621G>T (p.Gly874Val)
|
|
|
|
NM_032444.4(SLX4):c.2637G>C (p.Trp879Cys)
|
rs1276786771
|
|
|
NM_032444.4(SLX4):c.2650A>G (p.Ser884Gly)
|
|
|
|
NM_032444.4(SLX4):c.2666A>G (p.Gln889Arg)
|
|
|
|
NM_032444.4(SLX4):c.2675C>T (p.Ala892Val)
|
rs1368217140
|
|
|
NM_032444.4(SLX4):c.2706G>T (p.Lys902Asn)
|
|
|
|
NM_032444.4(SLX4):c.2710GAG[1] (p.Glu905del)
|
rs1292828765
|
|
|
NM_032444.4(SLX4):c.2719G>C (p.Glu907Gln)
|
rs1408881754
|
|
|
NM_032444.4(SLX4):c.2720A>G (p.Glu907Gly)
|
|
|
|
NM_032444.4(SLX4):c.2721G>T (p.Glu907Asp)
|
rs141450907
|
|
|
NM_032444.4(SLX4):c.2723C>T (p.Pro908Leu)
|
|
|
|
NM_032444.4(SLX4):c.2728G>C (p.Glu910Gln)
|
rs2151125290
|
|
|
NM_032444.4(SLX4):c.2731C>G (p.Pro911Ala)
|
rs2151125280
|
|
|
NM_032444.4(SLX4):c.2742T>G (p.Asp914Glu)
|
rs1060504342
|
|
|
NM_032444.4(SLX4):c.2746GCC[3] (p.Ala917dup)
|
rs2151125227
|
|
|
NM_032444.4(SLX4):c.2747C>T (p.Ala916Val)
|
rs2151125242
|
|
|
NM_032444.4(SLX4):c.2766G>T (p.Lys922Asn)
|
|
|
|
NM_032444.4(SLX4):c.2777G>A (p.Cys926Tyr)
|
|
|
|
NM_032444.4(SLX4):c.2789C>G (p.Pro930Arg)
|
|
|
|
NM_032444.4(SLX4):c.278C>T (p.Thr93Ile)
|
rs2151139524
|
|
|
NM_032444.4(SLX4):c.2812G>C (p.Ala938Pro)
|
rs2151125038
|
|
|
NM_032444.4(SLX4):c.2815C>T (p.Arg939Trp)
|
|
|
|
NM_032444.4(SLX4):c.2816G>C (p.Arg939Pro)
|
rs768474876
|
|
|
NM_032444.4(SLX4):c.2821G>A (p.Ala941Thr)
|
|
|
|
NM_032444.4(SLX4):c.2825A>T (p.Glu942Val)
|
rs2040579815
|
|
|
NM_032444.4(SLX4):c.2827G>A (p.Ala943Thr)
|
|
|
|
NM_032444.4(SLX4):c.2833G>A (p.Glu945Lys)
|
|
|
|
NM_032444.4(SLX4):c.2835G>C (p.Glu945Asp)
|
rs2040579474
|
|
|
NM_032444.4(SLX4):c.2846C>T (p.Pro949Leu)
|
|
|
|
NM_032444.4(SLX4):c.2851G>A (p.Glu951Lys)
|
rs1555450353
|
|
|
NM_032444.4(SLX4):c.2854_2856delinsATA (p.Ala952Ile)
|
rs2040578747
|
|
|
NM_032444.4(SLX4):c.2857C>G (p.Leu953Val)
|
rs1185482904
|
|
|
NM_032444.4(SLX4):c.2860G>A (p.Gly954Ser)
|
|
|
|
NM_032444.4(SLX4):c.2881C>A (p.Pro961Thr)
|
rs2151124871
|
|
|
NM_032444.4(SLX4):c.289G>A (p.Ala97Thr)
|
rs2040813930
|
|
|
NM_032444.4(SLX4):c.2912_2913delinsGC (p.Glu971Gly)
|
rs2151124807
|
|
|
NM_032444.4(SLX4):c.2914G>A (p.Gly972Ser)
|
|
|
|
NM_032444.4(SLX4):c.2915G>A (p.Gly972Asp)
|
rs2151124801
|
|
|
NM_032444.4(SLX4):c.2927A>G (p.His976Arg)
|
rs141294497
|
|
|
NM_032444.4(SLX4):c.2944G>T (p.Asp982Tyr)
|
rs753733757
|
|
|
NM_032444.4(SLX4):c.2972A>G (p.Gln991Arg)
|
|
|
|
NM_032444.4(SLX4):c.2978A>G (p.Glu993Gly)
|
rs759599459
|
|
|
NM_032444.4(SLX4):c.2993C>T (p.Ser998Phe)
|
|
|
|
NM_032444.4(SLX4):c.299C>A (p.Thr100Asn)
|
rs201163062
|
|
|
NM_032444.4(SLX4):c.3001A>G (p.Thr1001Ala)
|
rs769494671
|
|
|
NM_032444.4(SLX4):c.3002C>T (p.Thr1001Ile)
|
|
|
|
NM_032444.4(SLX4):c.3013G>A (p.Glu1005Lys)
|
rs746178364
|
|
|
NM_032444.4(SLX4):c.3034A>G (p.Arg1012Gly)
|
|
|
|
NM_032444.4(SLX4):c.3044G>A (p.Gly1015Glu)
|
rs2151124497
|
|
|
NM_032444.4(SLX4):c.3049G>A (p.Glu1017Lys)
|
|
|
|
NM_032444.4(SLX4):c.3052G>A (p.Val1018Ile)
|
rs948861318
|
|
|
NM_032444.4(SLX4):c.3059A>G (p.His1020Arg)
|
rs2151124446
|
|
|
NM_032444.4(SLX4):c.3062G>A (p.Arg1021His)
|
|
|
|
NM_032444.4(SLX4):c.3073T>C (p.Trp1025Arg)
|
|
|
|
NM_032444.4(SLX4):c.3079G>T (p.Ala1027Ser)
|
|
|
|
NM_032444.4(SLX4):c.3101G>T (p.Arg1034Leu)
|
|
|
|
NM_032444.4(SLX4):c.312A>C (p.Gln104His)
|
|
|
|
NM_032444.4(SLX4):c.3142T>A (p.Ser1048Thr)
|
|
|
|
NM_032444.4(SLX4):c.3157G>A (p.Gly1053Arg)
|
|
|
|
NM_032444.4(SLX4):c.3161C>T (p.Ser1054Leu)
|
|
|
|
NM_032444.4(SLX4):c.3179G>C (p.Arg1060Pro)
|
rs199994766
|
|
|
NM_032444.4(SLX4):c.317C>T (p.Pro106Leu)
|
rs2151139456
|
|
|
NM_032444.4(SLX4):c.3182C>T (p.Ser1061Phe)
|
rs2151124127
|
|
|
NM_032444.4(SLX4):c.3185G>A (p.Arg1062His)
|
|
|
|
NM_032444.4(SLX4):c.3191G>T (p.Gly1064Val)
|
|
|
|
NM_032444.4(SLX4):c.3200A>G (p.Gln1067Arg)
|
rs2040570986
|
|
|
NM_032444.4(SLX4):c.3209C>G (p.Ser1070Cys)
|
rs2040570774
|
|
|
NM_032444.4(SLX4):c.320C>T (p.Ala107Val)
|
rs2040813512
|
|
|
NM_032444.4(SLX4):c.3214A>G (p.Thr1072Ala)
|
|
|
|
NM_032444.4(SLX4):c.3215C>T (p.Thr1072Ile)
|
|
|
|
NM_032444.4(SLX4):c.3224C>T (p.Ser1075Phe)
|
rs147558074
|
|
|
NM_032444.4(SLX4):c.3226C>A (p.Pro1076Thr)
|
rs2151124007
|
|
|
NM_032444.4(SLX4):c.3226C>G (p.Pro1076Ala)
|
rs2151124007
|
|
|
NM_032444.4(SLX4):c.3251G>C (p.Arg1084Thr)
|
|
|
|
NM_032444.4(SLX4):c.3254A>G (p.Asp1085Gly)
|
|
|
|
NM_032444.4(SLX4):c.3263T>C (p.Ile1088Thr)
|
|
|
|
NM_032444.4(SLX4):c.3268A>G (p.Thr1090Ala)
|
|
|
|
NM_032444.4(SLX4):c.3311G>A (p.Arg1104Gln)
|
|
|
|
NM_032444.4(SLX4):c.3313T>A (p.Ser1105Thr)
|
rs2151123849
|
|
|
NM_032444.4(SLX4):c.3326G>A (p.Cys1109Tyr)
|
|
|
|
NM_032444.4(SLX4):c.332C>T (p.Pro111Leu)
|
rs765630089
|
|
|
NM_032444.4(SLX4):c.3334A>C (p.Lys1112Gln)
|
rs570382990
|
|
|
NM_032444.4(SLX4):c.3334A>G (p.Lys1112Glu)
|
rs570382990
|
|
|
NM_032444.4(SLX4):c.3337G>C (p.Gly1113Arg)
|
rs772246820
|
|
|
NM_032444.4(SLX4):c.3338_3340del (p.Gly1113del)
|
rs2151123784
|
|
|
NM_032444.4(SLX4):c.3344T>C (p.Leu1115Pro)
|
rs2040568630
|
|
|
NM_032444.4(SLX4):c.3350T>A (p.Phe1117Tyr)
|
rs1596521648
|
|
|
NM_032444.4(SLX4):c.3353C>T (p.Pro1118Leu)
|
rs1567170196
|
|
|
NM_032444.4(SLX4):c.3361T>C (p.Ser1121Pro)
|
|
|
|
NM_032444.4(SLX4):c.3362C>T (p.Ser1121Phe)
|
rs1060501792
|
|
|
NM_032444.4(SLX4):c.3364C>G (p.Pro1122Ala)
|
|
|
|
NM_032444.4(SLX4):c.3370A>T (p.Ile1124Phe)
|
|
|
|
NM_032444.4(SLX4):c.3373G>A (p.Asp1125Asn)
|
|
|
|
NM_032444.4(SLX4):c.3380C>T (p.Thr1127Ile)
|
|
|
|
NM_032444.4(SLX4):c.3383A>C (p.Gln1128Pro)
|
|
|
|
NM_032444.4(SLX4):c.3398A>G (p.His1133Arg)
|
|
|
|
NM_032444.4(SLX4):c.3401C>T (p.Ser1134Leu)
|
rs1433489753
|
|
|
NM_032444.4(SLX4):c.3405C>A (p.Ser1135Arg)
|
|
|
|
NM_032444.4(SLX4):c.3416A>G (p.Gln1139Arg)
|
rs2151123634
|
|
|
NM_032444.4(SLX4):c.3424T>C (p.Ser1142Pro)
|
rs1400414235
|
|
|
NM_032444.4(SLX4):c.3425C>T (p.Ser1142Leu)
|
rs967412461
|
|
|
NM_032444.4(SLX4):c.3427T>G (p.Ser1143Ala)
|
rs1567170136
|
|
|
NM_032444.4(SLX4):c.3434T>C (p.Leu1145Pro)
|
rs759560028
|
|
|
NM_032444.4(SLX4):c.3438C>A (p.Asn1146Lys)
|
|
|
|
NM_032444.4(SLX4):c.343A>C (p.Ser115Arg)
|
rs959148678
|
|
|
NM_032444.4(SLX4):c.3441AGA[1] (p.Glu1148del)
|
|
|
|
NM_032444.4(SLX4):c.3442G>C (p.Glu1148Gln)
|
|
|
|
NM_032444.4(SLX4):c.3444A>C (p.Glu1148Asp)
|
rs771079071
|
|
|
NM_032444.4(SLX4):c.3444A>T (p.Glu1148Asp)
|
rs771079071
|
|
|
NM_032444.4(SLX4):c.3446A>G (p.Asp1149Gly)
|
rs2040566610
|
|
|
NM_032444.4(SLX4):c.3451G>A (p.Val1151Ile)
|
rs1060501796
|
|
|
NM_032444.4(SLX4):c.3475G>A (p.Glu1159Lys)
|
|
|
|
NM_032444.4(SLX4):c.3477G>C (p.Glu1159Asp)
|
rs1349173708
|
|
|
NM_032444.4(SLX4):c.3492A>C (p.Glu1164Asp)
|
rs1324916025
|
|
|
NM_032444.4(SLX4):c.3497C>A (p.Thr1166Asn)
|
|
|
|
NM_032444.4(SLX4):c.349G>A (p.Ala117Thr)
|
|
|
|
NM_032444.4(SLX4):c.3502A>G (p.Met1168Val)
|
|
|
|
NM_032444.4(SLX4):c.3506A>C (p.Lys1169Thr)
|
|
|
|
NM_032444.4(SLX4):c.3522T>A (p.Asp1174Glu)
|
rs2151123437
|
|
|
NM_032444.4(SLX4):c.352C>G (p.Pro118Ala)
|
rs1264184614
|
|
|
NM_032444.4(SLX4):c.3584T>C (p.Ile1195Thr)
|
rs757575928
|
|
|
NM_032444.4(SLX4):c.358A>G (p.Thr120Ala)
|
rs1003342051
|
|
|
NM_032444.4(SLX4):c.3599A>T (p.Asp1200Val)
|
rs1165195894
|
|
|
NM_032444.4(SLX4):c.3607C>A (p.Pro1203Thr)
|
rs745508761
|
|
|
NM_032444.4(SLX4):c.3607C>G (p.Pro1203Ala)
|
rs745508761
|
|
|
NM_032444.4(SLX4):c.3623C>T (p.Pro1208Leu)
|
|
|
|
NM_032444.4(SLX4):c.3626G>A (p.Arg1209Lys)
|
|
|
|
NM_032444.4(SLX4):c.363_365del (p.Lys122del)
|
rs2151139354
|
|
|
NM_032444.4(SLX4):c.3658G>A (p.Gly1220Arg)
|
rs1160985971
|
|
|
NM_032444.4(SLX4):c.3661_3662delinsTT (p.Ala1221Leu)
|
|
|
|
NM_032444.4(SLX4):c.366G>C (p.Lys122Asn)
|
rs149626570
|
|
|
NM_032444.4(SLX4):c.3670G>C (p.Glu1224Gln)
|
rs2151123121
|
|
|
NM_032444.4(SLX4):c.3686T>C (p.Leu1229Ser)
|
|
|
|
NM_032444.4(SLX4):c.3700G>T (p.Ala1234Ser)
|
rs1555450127
|
|
|
NM_032444.4(SLX4):c.370A>G (p.Arg124Gly)
|
|
|
|
NM_032444.4(SLX4):c.3715T>C (p.Cys1239Arg)
|
rs2151122998
|
|
|
NM_032444.4(SLX4):c.3722G>C (p.Arg1241Pro)
|
|
|
|
NM_032444.4(SLX4):c.3724G>A (p.Glu1242Lys)
|
|
|
|
NM_032444.4(SLX4):c.3727A>G (p.Ser1243Gly)
|
|
|
|
NM_032444.4(SLX4):c.3728G>A (p.Ser1243Asn)
|
|
|
|
NM_032444.4(SLX4):c.3734C>T (p.Pro1245Leu)
|
|
|
|
NM_032444.4(SLX4):c.3739G>C (p.Glu1247Gln)
|
|
|
|
NM_032444.4(SLX4):c.3743C>T (p.Ala1248Val)
|
|
|
|
NM_032444.4(SLX4):c.374T>C (p.Val125Ala)
|
|
|
|
NM_032444.4(SLX4):c.3751A>G (p.Thr1251Ala)
|
rs1596521026
|
|
|
NM_032444.4(SLX4):c.3773C>G (p.Pro1258Arg)
|
|
|
|
NM_032444.4(SLX4):c.3784C>G (p.Leu1262Val)
|
|
|
|
NM_032444.4(SLX4):c.380A>T (p.Lys127Ile)
|
|
|
|
NM_032444.4(SLX4):c.3830G>A (p.Ser1277Asn)
|
rs1596520868
|
|
|
NM_032444.4(SLX4):c.3832C>T (p.Leu1278Phe)
|
rs2151122691
|
|
|
NM_032444.4(SLX4):c.3842G>A (p.Gly1281Glu)
|
rs766299864
|
|
|
NM_032444.4(SLX4):c.3848C>T (p.Ala1283Val)
|
rs140103960
|
|
|
NM_032444.4(SLX4):c.3850G>T (p.Val1284Leu)
|
rs373107728
|
|
|
NM_032444.4(SLX4):c.3856G>A (p.Ala1286Thr)
|
|
|
|
NM_032444.4(SLX4):c.3863C>G (p.Thr1288Ser)
|
rs1060501799
|
|
|
NM_032444.4(SLX4):c.3866A>G (p.Gln1289Arg)
|
|
|
|
NM_032444.4(SLX4):c.3868C>T (p.His1290Tyr)
|
rs112596894
|
|
|
NM_032444.4(SLX4):c.388G>A (p.Ala130Thr)
|
rs2040812493
|
|
|
NM_032444.4(SLX4):c.3890G>A (p.Gly1297Glu)
|
|
|
|
NM_032444.4(SLX4):c.38A>G (p.Tyr13Cys)
|
|
|
|
NM_032444.4(SLX4):c.3902G>T (p.Gly1301Val)
|
rs1307466531
|
|
|
NM_032444.4(SLX4):c.3903G>T (p.Gly1301=)
|
rs753464234
|
|
|
NM_032444.4(SLX4):c.3918G>T (p.Gln1306His)
|
|
|
|
NM_032444.4(SLX4):c.3919_3921del (p.Lys1307del)
|
rs775548839
|
|
|
NM_032444.4(SLX4):c.392G>A (p.Ser131Asn)
|
rs2040812388
|
|
|
NM_032444.4(SLX4):c.3934A>G (p.Arg1312Gly)
|
|
|
|
NM_032444.4(SLX4):c.3946C>A (p.Pro1316Thr)
|
|
|
|
NM_032444.4(SLX4):c.3948_3962dup (p.Pro1317_Pro1321dup)
|
rs1302525912
|
|
|
NM_032444.4(SLX4):c.3952C>T (p.Pro1318Ser)
|
|
|
|
NM_032444.4(SLX4):c.3952_3963del (p.Pro1318_Pro1321del)
|
rs771773313
|
|
|
NM_032444.4(SLX4):c.3958A>T (p.Thr1320Ser)
|
rs1060501797
|
|
|
NM_032444.4(SLX4):c.3965C>T (p.Ser1322Phe)
|
|
|
|
NM_032444.4(SLX4):c.3970T>G (p.Cys1324Gly)
|
|
|
|
NM_032444.4(SLX4):c.3973C>G (p.Leu1325Val)
|
rs2151122362
|
|
|
NM_032444.4(SLX4):c.3973C>T (p.Leu1325Phe)
|
|
|
|
NM_032444.4(SLX4):c.4002C>A (p.Asp1334Glu)
|
rs201826765
|
|
|
NM_032444.4(SLX4):c.4003G>A (p.Gly1335Ser)
|
rs367562934
|
|
|
NM_032444.4(SLX4):c.4003G>T (p.Gly1335Cys)
|
rs367562934
|
|
|
NM_032444.4(SLX4):c.4004G>T (p.Gly1335Val)
|
|
|
|
NM_032444.4(SLX4):c.4013A>G (p.Gln1338Arg)
|
rs2040554954
|
|
|
NM_032444.4(SLX4):c.4016G>A (p.Gly1339Asp)
|
rs2040554845
|
|
|
NM_032444.4(SLX4):c.4036C>T (p.Pro1346Ser)
|
rs2040554159
|
|
|
NM_032444.4(SLX4):c.4044_4045insCAGCGGAGA (p.Pro1348_Gly1349insGlnArgArg)
|
rs2151122205
|
|
|
NM_032444.4(SLX4):c.4045G>A (p.Gly1349Arg)
|
|
|
|
NM_032444.4(SLX4):c.4049G>A (p.Gly1350Asp)
|
|
|
|
NM_032444.4(SLX4):c.4055C>G (p.Pro1352Arg)
|
|
|
|
NM_032444.4(SLX4):c.4057C>T (p.His1353Tyr)
|
rs142205392
|
|
|
NM_032444.4(SLX4):c.4067C>A (p.Pro1356Gln)
|
rs764254888
|
|
|
NM_032444.4(SLX4):c.4075C>T (p.Pro1359Ser)
|
|
|
|
NM_032444.4(SLX4):c.4114C>T (p.Arg1372Trp)
|
|
|
|
NM_032444.4(SLX4):c.4129T>G (p.Ser1377Ala)
|
|
|
|
NM_032444.4(SLX4):c.4130C>G (p.Ser1377Trp)
|
rs770241338
|
|
|
NM_032444.4(SLX4):c.4135C>G (p.Pro1379Ala)
|
|
|
|
NM_032444.4(SLX4):c.4160C>A (p.Thr1387Asn)
|
|
|
|
NM_032444.4(SLX4):c.4162C>G (p.Pro1388Ala)
|
rs1457147753
|
|
|
NM_032444.4(SLX4):c.416G>C (p.Gly139Ala)
|
|
|
|
NM_032444.4(SLX4):c.416G>T (p.Gly139Val)
|
|
|
|
NM_032444.4(SLX4):c.4171G>A (p.Glu1391Lys)
|
|
|
|
NM_032444.4(SLX4):c.4175TGG[1] (p.Val1393del)
|
rs756477852
|
|
|
NM_032444.4(SLX4):c.4177G>C (p.Val1393Leu)
|
|
|
|
NM_032444.4(SLX4):c.4191C>A (p.Asp1397Glu)
|
|
|
|
NM_032444.4(SLX4):c.4195G>T (p.Asp1399Tyr)
|
|
|
|
NM_032444.4(SLX4):c.4197C>G (p.Asp1399Glu)
|
rs146079010
|
|
|
NM_032444.4(SLX4):c.420G>T (p.Glu140Asp)
|
rs753015235
|
|
|
NM_032444.4(SLX4):c.4219C>T (p.His1407Tyr)
|
|
|
|
NM_032444.4(SLX4):c.421G>C (p.Gly141Arg)
|
rs137976282
|
|
|
NM_032444.4(SLX4):c.4229A>G (p.Asn1410Ser)
|
rs1596520203
|
|
|
NM_032444.4(SLX4):c.4230C>G (p.Asn1410Lys)
|
|
|
|
NM_032444.4(SLX4):c.4245_4246delinsAA (p.Asp1416Asn)
|
rs2040548229
|
|
|
NM_032444.4(SLX4):c.4250G>A (p.Ser1417Asn)
|
rs1158558800
|
|
|
NM_032444.4(SLX4):c.4255C>T (p.Pro1419Ser)
|
|
|
|
NM_032444.4(SLX4):c.4258C>G (p.Pro1420Ala)
|
rs2151121708
|
|
|
NM_032444.4(SLX4):c.4258C>T (p.Pro1420Ser)
|
|
|
|
NM_032444.4(SLX4):c.4264C>G (p.Pro1422Ala)
|
|
|
|
NM_032444.4(SLX4):c.4265C>T (p.Pro1422Leu)
|
|
|
|
NM_032444.4(SLX4):c.4270GAC[1] (p.Asp1425del)
|
rs755109579
|
|
|
NM_032444.4(SLX4):c.427G>A (p.Val143Met)
|
|
|
|
NM_032444.4(SLX4):c.4280G>C (p.Cys1427Ser)
|
|
|
|
NM_032444.4(SLX4):c.4285C>T (p.His1429Tyr)
|
|
|
|
NM_032444.4(SLX4):c.4288A>G (p.Met1430Val)
|
|
|
|
NM_032444.4(SLX4):c.4295C>T (p.Pro1432Leu)
|
|
|
|
NM_032444.4(SLX4):c.4306A>G (p.Ile1436Val)
|
rs2151121602
|
|
|
NM_032444.4(SLX4):c.4333C>G (p.Arg1445Gly)
|
rs777967898
|
|
|
NM_032444.4(SLX4):c.4336A>G (p.Thr1446Ala)
|
rs2040546349
|
|
|
NM_032444.4(SLX4):c.4337C>G (p.Thr1446Ser)
|
|
|
|
NM_032444.4(SLX4):c.4355G>A (p.Ser1452Asn)
|
rs765104618
|
|
|
NM_032444.4(SLX4):c.4371G>T (p.Arg1457Ser)
|
|
|
|
NM_032444.4(SLX4):c.4373T>C (p.Met1458Thr)
|
|
|
|
NM_032444.4(SLX4):c.4374G>C (p.Met1458Ile)
|
|
|
|
NM_032444.4(SLX4):c.4377C>G (p.Asn1459Lys)
|
rs773941480
|
|
|
NM_032444.4(SLX4):c.4378G>A (p.Glu1460Lys)
|
rs749082427
|
|
|
NM_032444.4(SLX4):c.437C>G (p.Ser146Cys)
|
|
|
|
NM_032444.4(SLX4):c.4382C>T (p.Ala1461Val)
|
|
|
|
NM_032444.4(SLX4):c.4382CCG[1] (p.Ala1462del)
|
|
|
|
NM_032444.4(SLX4):c.4394G>C (p.Arg1465Pro)
|
|
|
|
NM_032444.4(SLX4):c.4394G>T (p.Arg1465Leu)
|
rs757128699
|
|
|
NM_032444.4(SLX4):c.4395_4406del (p.Asp1466_Ser1469del)
|
rs2151121320
|
|
|
NM_032444.4(SLX4):c.4400G>A (p.Cys1467Tyr)
|
|
|
|
NM_032444.4(SLX4):c.4400G>C (p.Cys1467Ser)
|
|
|
|
NM_032444.4(SLX4):c.440C>T (p.Ala147Val)
|
|
|
|
NM_032444.4(SLX4):c.4411G>A (p.Gly1471Arg)
|
|
|
|
NM_032444.4(SLX4):c.4420G>A (p.Asp1474Asn)
|
|
|
|
NM_032444.4(SLX4):c.4429C>G (p.Pro1477Ala)
|
|
|
|
NM_032444.4(SLX4):c.442C>T (p.Pro148Ser)
|
|
|
|
NM_032444.4(SLX4):c.4443C>G (p.Ser1481Arg)
|
rs1307537720
|
|
|
NM_032444.4(SLX4):c.4451C>T (p.Thr1484Ile)
|
|
|
|
NM_032444.4(SLX4):c.4457G>A (p.Arg1486Lys)
|
|
|
|
NM_032444.4(SLX4):c.4464G>C (p.Leu1488Phe)
|
rs2040543369
|
|
|
NM_032444.4(SLX4):c.4468G>A (p.Glu1490Lys)
|
rs1378182049
|
|
|
NM_032444.4(SLX4):c.4481_4525del (p.Gly1494_Ser1508del)
|
rs750613465
|
|
|
NM_032444.4(SLX4):c.4505G>A (p.Arg1502Lys)
|
|
|
|
NM_032444.4(SLX4):c.4508C>G (p.Pro1503Arg)
|
rs370637700
|
|
|
NM_032444.4(SLX4):c.4510A>C (p.Ser1504Arg)
|
|
|
|
NM_032444.4(SLX4):c.4511G>C (p.Ser1504Thr)
|
rs1485376668
|
|
|
NM_032444.4(SLX4):c.4523C>G (p.Ser1508Trp)
|
|
|
|
NM_032444.4(SLX4):c.4523C>T (p.Ser1508Leu)
|
rs112694849
|
|
|
NM_032444.4(SLX4):c.4534G>A (p.Asp1512Asn)
|
|
|
|
NM_032444.4(SLX4):c.4534G>C (p.Asp1512His)
|
|
|
|
NM_032444.4(SLX4):c.4542G>T (p.Trp1514Cys)
|
rs1198880078
|
|
|
NM_032444.4(SLX4):c.4546G>C (p.Gly1516Arg)
|
rs775915651
|
|
|
NM_032444.4(SLX4):c.4556A>C (p.Gln1519Pro)
|
rs561446698
|
|
|
NM_032444.4(SLX4):c.455T>C (p.Val152Ala)
|
rs2151139133
|
|
|
NM_032444.4(SLX4):c.4576C>T (p.Pro1526Ser)
|
|
|
|
NM_032444.4(SLX4):c.4586A>G (p.Gln1529Arg)
|
rs2151120875
|
|
|
NM_032444.4(SLX4):c.4590G>T (p.Met1530Ile)
|
|
|
|
NM_032444.4(SLX4):c.4600G>T (p.Gly1534Cys)
|
rs78770603
|
|
|
NM_032444.4(SLX4):c.4601G>A (p.Gly1534Asp)
|
rs753047651
|
|
|
NM_032444.4(SLX4):c.4601G>T (p.Gly1534Val)
|
rs753047651
|
|
|
NM_032444.4(SLX4):c.4615C>T (p.Pro1539Ser)
|
|
|
|
NM_032444.4(SLX4):c.4620A>C (p.Glu1540Asp)
|
|
|
|
NM_032444.4(SLX4):c.4622G>A (p.Gly1541Glu)
|
|
|
|
NM_032444.4(SLX4):c.4629G>C (p.Glu1543Asp)
|
|
|
|
NM_032444.4(SLX4):c.4629G>T (p.Glu1543Asp)
|
rs1406412705
|
|
|
NM_032444.4(SLX4):c.4633C>T (p.Pro1545Ser)
|
rs2040539889
|
|
|
NM_032444.4(SLX4):c.4636A>G (p.Lys1546Glu)
|
|
|
|
NM_032444.4(SLX4):c.4645A>T (p.Asn1549Tyr)
|
rs2040490377
|
|
|
NM_032444.4(SLX4):c.4652A>G (p.Lys1551Arg)
|
|
|
|
NM_032444.4(SLX4):c.4678A>G (p.Ile1560Val)
|
|
|
|
NM_032444.4(SLX4):c.467C>T (p.Thr156Ile)
|
rs144614070
|
|
|
NM_032444.4(SLX4):c.4697A>G (p.Tyr1566Cys)
|
|
|
|
NM_032444.4(SLX4):c.4703T>C (p.Ile1568Thr)
|
rs377185661
|
|
|
NM_032444.4(SLX4):c.4706T>C (p.Met1569Thr)
|
|
|
|
NM_032444.4(SLX4):c.4717G>T (p.Val1573Leu)
|
|
|
|
NM_032444.4(SLX4):c.4720C>G (p.Leu1574Val)
|
rs2040488671
|
|
|
NM_032444.4(SLX4):c.4721_4722delinsCC (p.Leu1574Pro)
|
rs2151118023
|
|
|
NM_032444.4(SLX4):c.4729G>C (p.Glu1577Gln)
|
|
|
|
NM_032444.4(SLX4):c.4737T>A (p.Asp1579Glu)
|
rs1466193115
|
|
|
NM_032444.4(SLX4):c.4739+6C>A
|
rs770758859
|
|
|
NM_032444.4(SLX4):c.4742T>C (p.Phe1581Ser)
|
|
|
|
NM_032444.4(SLX4):c.4760C>G (p.Pro1587Arg)
|
rs2040468443
|
|
|
NM_032444.4(SLX4):c.476A>C (p.Asn159Thr)
|
|
|
|
NM_032444.4(SLX4):c.4774G>T (p.Val1592Phe)
|
|
|
|
NM_032444.4(SLX4):c.4787A>C (p.Lys1596Thr)
|
rs2151117092
|
|
|
NM_032444.4(SLX4):c.4791G>C (p.Glu1597Asp)
|
|
|
|
NM_032444.4(SLX4):c.4792A>G (p.Ile1598Val)
|
|
|
|
NM_032444.4(SLX4):c.4799A>G (p.Gln1600Arg)
|
rs2151117076
|
|
|
NM_032444.4(SLX4):c.4804A>C (p.Thr1602Pro)
|
rs756198942
|
|
|
NM_032444.4(SLX4):c.4804A>G (p.Thr1602Ala)
|
|
|
|
NM_032444.4(SLX4):c.4811A>C (p.Gln1604Pro)
|
rs2040467275
|
|
|
NM_032444.4(SLX4):c.4831G>A (p.Glu1611Lys)
|
|
|
|
NM_032444.4(SLX4):c.4832A>G (p.Glu1611Gly)
|
|
|
|
NM_032444.4(SLX4):c.4836C>A (p.Asp1612Glu)
|
rs140844106
|
|
|
NM_032444.4(SLX4):c.4842C>G (p.Ser1614Arg)
|
rs2151116971
|
|
|
NM_032444.4(SLX4):c.487G>A (p.Gly163Ser)
|
|
|
|
NM_032444.4(SLX4):c.4883C>A (p.Thr1628Asn)
|
rs199573277
|
|
|
NM_032444.4(SLX4):c.4883C>T (p.Thr1628Ile)
|
rs199573277
|
|
|
NM_032444.4(SLX4):c.4906C>A (p.Pro1636Thr)
|
|
|
|
NM_032444.4(SLX4):c.4916C>G (p.Ala1639Gly)
|
|
|
|
NM_032444.4(SLX4):c.4916C>T (p.Ala1639Val)
|
|
|
|
NM_032444.4(SLX4):c.4918G>C (p.Gly1640Arg)
|
rs368102037
|
|
|
NM_032444.4(SLX4):c.4931A>G (p.Gln1644Arg)
|
rs2151116778
|
|
|
NM_032444.4(SLX4):c.4936G>A (p.Glu1646Lys)
|
|
|
|
NM_032444.4(SLX4):c.4936G>C (p.Glu1646Gln)
|
|
|
|
NM_032444.4(SLX4):c.4943C>A (p.Thr1648Asn)
|
|
|
|
NM_032444.4(SLX4):c.4946C>T (p.Thr1649Ile)
|
rs2040464427
|
|
|
NM_032444.4(SLX4):c.4948G>A (p.Gly1650Arg)
|
rs770344772
|
|
|
NM_032444.4(SLX4):c.4949G>A (p.Gly1650Glu)
|
rs1567166441
|
|
|
NM_032444.4(SLX4):c.4960C>T (p.His1654Tyr)
|
rs2151116711
|
|
|
NM_032444.4(SLX4):c.4973G>A (p.Gly1658Glu)
|
|
|
|
NM_032444.4(SLX4):c.4975C>T (p.Pro1659Ser)
|
|
|
|
NM_032444.4(SLX4):c.4978_4980del (p.Ala1660del)
|
|
|
|
NM_032444.4(SLX4):c.4979C>T (p.Ala1660Val)
|
|
|
|
NM_032444.4(SLX4):c.497A>C (p.Gln166Pro)
|
rs2151139059
|
|
|
NM_032444.4(SLX4):c.4990G>A (p.Gly1664Ser)
|
|
|
|
NM_032444.4(SLX4):c.4997G>A (p.Arg1666Gln)
|
|
|
|
NM_032444.4(SLX4):c.4999C>A (p.His1667Asn)
|
rs746120772
|
|
|
NM_032444.4(SLX4):c.5000A>C (p.His1667Pro)
|
|
|
|
NM_032444.4(SLX4):c.5027C>T (p.Thr1676Ile)
|
rs377544881
|
|
|
NM_032444.4(SLX4):c.5030C>A (p.Pro1677His)
|
rs2040462734
|
|
|
NM_032444.4(SLX4):c.5039G>A (p.Arg1680Lys)
|
|
|
|
NM_032444.4(SLX4):c.5040G>C (p.Arg1680Ser)
|
rs199592185
|
|
|
NM_032444.4(SLX4):c.5044C>T (p.Pro1682Ser)
|
|
|
|
NM_032444.4(SLX4):c.5057C>T (p.Ala1686Val)
|
|
|
|
NM_032444.4(SLX4):c.5063C>T (p.Pro1688Leu)
|
rs2151116555
|
|
|
NM_032444.4(SLX4):c.5066G>A (p.Gly1689Asp)
|
rs2151116548
|
|
|
NM_032444.4(SLX4):c.506C>G (p.Ser169Trp)
|
|
|
|
NM_032444.4(SLX4):c.506C>T (p.Ser169Leu)
|
rs776018346
|
|
|
NM_032444.4(SLX4):c.5072A>T (p.Asn1691Ile)
|
rs551385115
|
|
|
NM_032444.4(SLX4):c.5080G>A (p.Ala1694Thr)
|
rs1218491919
|
|
|
NM_032444.4(SLX4):c.5080G>T (p.Ala1694Ser)
|
rs1218491919
|
|
|
NM_032444.4(SLX4):c.5096C>G (p.Ser1699Cys)
|
rs184699331
|
|
|
NM_032444.4(SLX4):c.5101_5103del (p.Glu1701del)
|
|
|
|
NM_032444.4(SLX4):c.5102A>T (p.Glu1701Val)
|
rs2040461062
|
|
|
NM_032444.4(SLX4):c.5107G>A (p.Val1703Met)
|
|
|
|
NM_032444.4(SLX4):c.5107G>T (p.Val1703Leu)
|
|
|
|
NM_032444.4(SLX4):c.5108T>G (p.Val1703Gly)
|
rs2040460900
|
|
|
NM_032444.4(SLX4):c.5110G>T (p.Ala1704Ser)
|
|
|
|
NM_032444.4(SLX4):c.5129G>A (p.Ser1710Asn)
|
rs2151116448
|
|
|
NM_032444.4(SLX4):c.5143A>G (p.Ser1715Gly)
|
rs2151116429
|
|
|
NM_032444.4(SLX4):c.5150A>C (p.Gln1717Pro)
|
rs766089444
|
|
|
NM_032444.4(SLX4):c.5150A>G (p.Gln1717Arg)
|
rs766089444
|
|
|
NM_032444.4(SLX4):c.5153+5C>A
|
|
|
|
NM_032444.4(SLX4):c.5153+6C>A
|
rs754209356
|
|
|
NM_032444.4(SLX4):c.5153+6C>T
|
rs754209356
|
|
|
NM_032444.4(SLX4):c.5154-9T>A
|
rs1372404016
|
|
|
NM_032444.4(SLX4):c.5154TTC[1] (p.Ser1721del)
|
rs770121119
|
|
|
NM_032444.4(SLX4):c.5171T>C (p.Phe1724Ser)
|
rs2151116029
|
|
|
NM_032444.4(SLX4):c.5185G>C (p.Glu1729Gln)
|
rs1376464922
|
|
|
NM_032444.4(SLX4):c.5186A>C (p.Glu1729Ala)
|
|
|
|
NM_032444.4(SLX4):c.5189C>T (p.Ser1730Phe)
|
rs376960842
|
|
|
NM_032444.4(SLX4):c.5192C>T (p.Ala1731Val)
|
|
|
|
NM_032444.4(SLX4):c.5197G>A (p.Glu1733Lys)
|
|
|
|
NM_032444.4(SLX4):c.5204A>C (p.Glu1735Ala)
|
|
|
|
NM_032444.4(SLX4):c.5209G>A (p.Glu1737Lys)
|
|
|
|
NM_032444.4(SLX4):c.5211G>C (p.Glu1737Asp)
|
rs1365924781
|
|
|
NM_032444.4(SLX4):c.5215G>A (p.Glu1739Lys)
|
rs2040453082
|
|
|
NM_032444.4(SLX4):c.5239G>A (p.Val1747Met)
|
|
|
|
NM_032444.4(SLX4):c.5239G>T (p.Val1747Leu)
|
|
|
|
NM_032444.4(SLX4):c.5246C>T (p.Ala1749Val)
|
|
|
|
NM_032444.4(SLX4):c.5248G>A (p.Ala1750Thr)
|
|
|
|
NM_032444.4(SLX4):c.5248_5249delinsTT (p.Ala1750Leu)
|
rs878855163
|
|
|
NM_032444.4(SLX4):c.5257G>C (p.Asp1753His)
|
rs981311587
|
|
|
NM_032444.4(SLX4):c.5264C>G (p.Ala1755Gly)
|
|
|
|
NM_032444.4(SLX4):c.528A>C (p.Lys176Asn)
|
rs778569160
|
|
|
NM_032444.4(SLX4):c.5300A>G (p.Tyr1767Cys)
|
rs2040450814
|
|
|
NM_032444.4(SLX4):c.5305_5322dup (p.Lys1769_Gln1774dup)
|
rs2151115686
|
|
|
NM_032444.4(SLX4):c.5308G>A (p.Val1770Met)
|
|
|
|
NM_032444.4(SLX4):c.5309T>A (p.Val1770Glu)
|
|
|
|
NM_032444.4(SLX4):c.5312T>C (p.Leu1771Pro)
|
|
|
|
NM_032444.4(SLX4):c.5327T>G (p.Phe1776Cys)
|
rs747442815
|
|
|
NM_032444.4(SLX4):c.5328T>G (p.Phe1776Leu)
|
rs2040450297
|
|
|
NM_032444.4(SLX4):c.5333T>G (p.Leu1778Arg)
|
|
|
|
NM_032444.4(SLX4):c.5342_5350del (p.Leu1781_Glu1784delinsGln)
|
rs2151115638
|
|
|
NM_032444.4(SLX4):c.535+6T>G
|
|
|
|
NM_032444.4(SLX4):c.5359C>G (p.Gln1787Glu)
|
rs1259909923
|
|
|
NM_032444.4(SLX4):c.5359C>T (p.Gln1787Ter)
|
|
|
|
NM_032444.4(SLX4):c.5368C>A (p.Leu1790Ile)
|
rs2040449660
|
|
|
NM_032444.4(SLX4):c.5381C>T (p.Ser1794Leu)
|
|
|
|
NM_032444.4(SLX4):c.5434G>A (p.Ala1812Thr)
|
|
|
|
NM_032444.4(SLX4):c.5440C>G (p.Arg1814Gly)
|
|
|
|
NM_032444.4(SLX4):c.5440C>T (p.Arg1814Cys)
|
rs767720336
|
|
|
NM_032444.4(SLX4):c.5444G>C (p.Arg1815Thr)
|
rs375885941
|
|
|
NM_032444.4(SLX4):c.5446G>A (p.Glu1816Lys)
|
|
|
|
NM_032444.4(SLX4):c.5468G>A (p.Arg1823Gln)
|
|
|
|
NM_032444.4(SLX4):c.5480G>T (p.Gly1827Val)
|
rs2151115403
|
|
|
NM_032444.4(SLX4):c.5480del (p.Gly1827fs)
|
rs780024167
|
|
|
NM_032444.4(SLX4):c.5482AAG[2] (p.Lys1830del)
|
rs758485573
|
|
|
NM_032444.4(SLX4):c.552C>T (p.Ser184=)
|
|
|
|
NM_032444.4(SLX4):c.553G>T (p.Asp185Tyr)
|
|
|
|
NM_032444.4(SLX4):c.55C>T (p.His19Tyr)
|
|
|
|
NM_032444.4(SLX4):c.565C>G (p.Pro189Ala)
|
rs757069991
|
|
|
NM_032444.4(SLX4):c.565C>T (p.Pro189Ser)
|
|
|
|
NM_032444.4(SLX4):c.568C>T (p.Pro190Ser)
|
rs753758188
|
|
|
NM_032444.4(SLX4):c.580A>G (p.Thr194Ala)
|
|
|
|
NM_032444.4(SLX4):c.589G>A (p.Val197Met)
|
rs1555452306
|
|
|
NM_032444.4(SLX4):c.595A>C (p.Ser199Arg)
|
rs770098753
|
|
|
NM_032444.4(SLX4):c.607C>A (p.Pro203Thr)
|
rs2151137984
|
|
|
NM_032444.4(SLX4):c.610C>G (p.Arg204Gly)
|
rs79842542
|
|
|
NM_032444.4(SLX4):c.616G>A (p.Ala206Thr)
|
|
|
|
NM_032444.4(SLX4):c.629T>C (p.Leu210Pro)
|
rs957576825
|
|
|
NM_032444.4(SLX4):c.632A>G (p.Gln211Arg)
|
rs2151137938
|
|
|
NM_032444.4(SLX4):c.645G>C (p.Gln215His)
|
rs1449991903
|
|
|
NM_032444.4(SLX4):c.660C>A (p.Asp220Glu)
|
rs767206967
|
|
|
NM_032444.4(SLX4):c.661C>T (p.Pro221Ser)
|
rs2040785784
|
|
|
NM_032444.4(SLX4):c.676C>T (p.His226Tyr)
|
rs761229867
|
|
|
NM_032444.4(SLX4):c.678C>A (p.His226Gln)
|
rs28516461
|
|
|
NM_032444.4(SLX4):c.698T>C (p.Leu233Pro)
|
rs2151137818
|
|
|
NM_032444.4(SLX4):c.703G>A (p.Ala235Thr)
|
rs754917250
|
|
|
NM_032444.4(SLX4):c.704C>G (p.Ala235Gly)
|
rs2040784637
|
|
|
NM_032444.4(SLX4):c.707C>T (p.Ala236Val)
|
rs200803578
|
|
|
NM_032444.4(SLX4):c.718A>C (p.Asn240His)
|
|
|
|
NM_032444.4(SLX4):c.742G>C (p.Glu248Gln)
|
|
|
|
NM_032444.4(SLX4):c.749T>C (p.Met250Thr)
|
|
|
|
NM_032444.4(SLX4):c.760+5G>A
|
rs1555452262
|
|
|
NM_032444.4(SLX4):c.764A>G (p.Tyr255Cys)
|
|
|
|
NM_032444.4(SLX4):c.788A>C (p.Glu263Ala)
|
rs2151135057
|
|
|
NM_032444.4(SLX4):c.792C>G (p.Ser264Arg)
|
|
|
|
NM_032444.4(SLX4):c.793G>A (p.Asp265Asn)
|
|
|
|
NM_032444.4(SLX4):c.793G>C (p.Asp265His)
|
|
|
|
NM_032444.4(SLX4):c.805G>T (p.Ala269Ser)
|
|
|
|
NM_032444.4(SLX4):c.80A>T (p.Asp27Val)
|
rs1567178445
|
|
|
NM_032444.4(SLX4):c.822G>C (p.Gln274His)
|
rs1367038373
|
|
|
NM_032444.4(SLX4):c.853GAT[1] (p.Asp286del)
|
rs761185763
|
|
|
NM_032444.4(SLX4):c.864G>A (p.Leu288=)
|
|
|
|
NM_032444.4(SLX4):c.867G>C (p.Glu289Asp)
|
|
|
|
NM_032444.4(SLX4):c.86G>C (p.Arg29Pro)
|
|
|
|
NM_032444.4(SLX4):c.874G>C (p.Gly292Arg)
|
rs780402573
|
|
|
NM_032444.4(SLX4):c.883T>C (p.Phe295Leu)
|
|
|
|
NM_032444.4(SLX4):c.8T>G (p.Leu3Arg)
|
|
|
|
NM_032444.4(SLX4):c.908T>C (p.Leu303Pro)
|
|
|
|
NM_032444.4(SLX4):c.943G>A (p.Val315Met)
|
|
|
|
NM_032444.4(SLX4):c.950+3G>C
|
|
|
|
NM_032444.4(SLX4):c.951G>A (p.Arg317=)
|
rs1338514538
|
|
|
NM_032444.4(SLX4):c.956T>C (p.Leu319Ser)
|
rs2151134190
|
|
|
NM_032444.4(SLX4):c.985_987del (p.Ser329del)
|
rs1289726066
|
|
|
NM_032444.4(SLX4):c.988G>A (p.Val330Met)
|
rs2040723281
|
|
|
NM_032444.4(SLX4):c.99C>G (p.Asp33Glu)
|
|
|
|
NM_032634.4(PIGO):c.1028T>C (p.Val343Ala)
|
rs2131078846
|
|
|
NM_032634.4(PIGO):c.1045T>G (p.Ser349Ala)
|
rs1554673142
|
|
|
NM_032634.4(PIGO):c.1073C>T (p.Ser358Phe)
|
rs376445701
|
|
|
NM_032634.4(PIGO):c.1079C>A (p.Ala360Asp)
|
|
|
|
NM_032634.4(PIGO):c.1094C>T (p.Ser365Leu)
|
rs1262476458
|
|
|
NM_032634.4(PIGO):c.1120G>C (p.Val374Leu)
|
rs1587168605
|
|
|
NM_032634.4(PIGO):c.1127G>C (p.Arg376Pro)
|
rs768552303
|
|
|
NM_032634.4(PIGO):c.1127G>T (p.Arg376Leu)
|
rs768552303
|
|
|
NM_032634.4(PIGO):c.1135C>T (p.His379Tyr)
|
rs771838559
|
|
|
NM_032634.4(PIGO):c.119G>A (p.Ser40Asn)
|
|
|
|
NM_032634.4(PIGO):c.1213G>A (p.Ala405Thr)
|
|
|
|
NM_032634.4(PIGO):c.1225T>C (p.Trp409Arg)
|
rs2131077871
|
|
|
NM_032634.4(PIGO):c.1241C>G (p.Pro414Arg)
|
rs944789603
|
|
|
NM_032634.4(PIGO):c.1244A>G (p.Lys415Arg)
|
rs1265730676
|
|
|
NM_032634.4(PIGO):c.1247G>A (p.Gly416Glu)
|
rs774194698
|
|
|
NM_032634.4(PIGO):c.1270G>A (p.Val424Met)
|
|
|
|
NM_032634.4(PIGO):c.1297C>T (p.Arg433Trp)
|
|
|
|
NM_032634.4(PIGO):c.1316G>A (p.Cys439Tyr)
|
|
|
|
NM_032634.4(PIGO):c.1327T>C (p.Trp443Arg)
|
|
|
|
NM_032634.4(PIGO):c.1334G>A (p.Arg445His)
|
|
|
|
NM_032634.4(PIGO):c.1351A>G (p.Met451Val)
|
rs1477371877
|
|
|
NM_032634.4(PIGO):c.1355C>G (p.Ala452Gly)
|
rs767418527
|
|
|
NM_032634.4(PIGO):c.1361G>T (p.Gly454Val)
|
rs751477063
|
|
|
NM_032634.4(PIGO):c.1365T>G (p.Thr455=)
|
rs2131077068
|
|
|
NM_032634.4(PIGO):c.1391T>G (p.Ile464Ser)
|
rs982318294
|
|
|
NM_032634.4(PIGO):c.1396C>G (p.Leu466Val)
|
rs1829476284
|
|
|
NM_032634.4(PIGO):c.1400T>C (p.Leu467Pro)
|
|
|
|
NM_032634.4(PIGO):c.1407_1421del (p.Gln470_Ser474del)
|
rs756923468
|
|
|
NM_032634.4(PIGO):c.1421C>G (p.Ser474Cys)
|
rs1829474910
|
|
|
NM_032634.4(PIGO):c.1424C>G (p.Pro475Arg)
|
rs370166497
|
|
|
NM_032634.4(PIGO):c.1433C>T (p.Pro478Leu)
|
rs1829474467
|
|
|
NM_032634.4(PIGO):c.1442C>G (p.Pro481Arg)
|
rs1563997847
|
|
|
NM_032634.4(PIGO):c.1493C>T (p.Ala498Val)
|
rs139997527
|
|
|
NM_032634.4(PIGO):c.14C>T (p.Ser5Leu)
|
rs1829634211
|
|
|
NM_032634.4(PIGO):c.1502T>A (p.Leu501Gln)
|
rs1829470218
|
|
|
NM_032634.4(PIGO):c.1505G>A (p.Gly502Glu)
|
rs1486039779
|
|
|
NM_032634.4(PIGO):c.1510A>G (p.Ile504Val)
|
rs868736867
|
|
|
NM_032634.4(PIGO):c.1528C>G (p.Leu510Val)
|
|
|
|
NM_032634.4(PIGO):c.152C>T (p.Pro51Leu)
|
rs1829626741
|
|
|
NM_032634.4(PIGO):c.154T>C (p.Trp52Arg)
|
rs1829626477
|
|
|
NM_032634.4(PIGO):c.1574T>A (p.Phe525Tyr)
|
rs935550232
|
|
|
NM_032634.4(PIGO):c.1591G>A (p.Ala531Thr)
|
rs1416430595
|
|
|
NM_032634.4(PIGO):c.1657CTG[1] (p.Leu554del)
|
|
|
|
NM_032634.4(PIGO):c.1666C>T (p.Arg556Cys)
|
rs754771826
|
|
|
NM_032634.4(PIGO):c.1667G>A (p.Arg556His)
|
|
|
|
NM_032634.4(PIGO):c.1667G>T (p.Arg556Leu)
|
|
|
|
NM_032634.4(PIGO):c.1673C>T (p.Ala558Val)
|
rs544432298
|
|
|
NM_032634.4(PIGO):c.1703C>T (p.Ala568Val)
|
|
|
|
NM_032634.4(PIGO):c.1707G>C (p.Glu569Asp)
|
rs752287920
|
|
|
NM_032634.4(PIGO):c.1730T>C (p.Leu577Ser)
|
rs1396494796
|
|
|
NM_032634.4(PIGO):c.1741A>G (p.Ile581Val)
|
rs1390829462
|
|
|
NM_032634.4(PIGO):c.1747C>T (p.Leu583Phe)
|
rs778946017
|
|
|
NM_032634.4(PIGO):c.1751T>C (p.Leu584Pro)
|
rs1829452882
|
|
|
NM_032634.4(PIGO):c.1789C>A (p.Pro597Thr)
|
rs1829451050
|
|
|
NM_032634.4(PIGO):c.1801A>G (p.Thr601Ala)
|
rs2131075982
|
|
|
NM_032634.4(PIGO):c.1817G>A (p.Gly606Asp)
|
|
|
|
NM_032634.4(PIGO):c.1820C>A (p.Thr607Asn)
|
rs1829449172
|
|
|
NM_032634.4(PIGO):c.1837C>A (p.Pro613Thr)
|
|
|
|
NM_032634.4(PIGO):c.1840C>T (p.Pro614Ser)
|
rs2131075851
|
|
|
NM_032634.4(PIGO):c.1841C>G (p.Pro614Arg)
|
rs749184960
|
|
|
NM_032634.4(PIGO):c.1847A>C (p.His616Pro)
|
|
|
|
NM_032634.4(PIGO):c.1857A>G (p.Ala619=)
|
rs1278167055
|
|
|
NM_032634.4(PIGO):c.1861G>T (p.Ala621Ser)
|
|
|
|
NM_032634.4(PIGO):c.1862C>G (p.Ala621Gly)
|
|
|
|
NM_032634.4(PIGO):c.1907G>A (p.Gly636Glu)
|
|
|
|
NM_032634.4(PIGO):c.1919G>A (p.Arg640His)
|
rs918368312
|
|
|
NM_032634.4(PIGO):c.1919G>T (p.Arg640Leu)
|
rs918368312
|
|
|
NM_032634.4(PIGO):c.1927G>A (p.Glu643Lys)
|
rs369499442
|
|
|
NM_032634.4(PIGO):c.1930G>A (p.Glu644Lys)
|
|
|
|
NM_032634.4(PIGO):c.1930G>C (p.Glu644Gln)
|
rs1237579146
|
|
|
NM_032634.4(PIGO):c.1936C>T (p.Pro646Ser)
|
rs1829443313
|
|
|
NM_032634.4(PIGO):c.193T>A (p.Ser65Thr)
|
rs2131084267
|
|
|
NM_032634.4(PIGO):c.1949C>T (p.Ser650Phe)
|
rs1587164764
|
|
|
NM_032634.4(PIGO):c.1952C>T (p.Ser651Phe)
|
rs1441207104
|
|
|
NM_032634.4(PIGO):c.1960C>G (p.Leu654Val)
|
rs766400679
|
|
|
NM_032634.4(PIGO):c.1966C>T (p.Pro656Ser)
|
|
|
|
NM_032634.4(PIGO):c.1982T>C (p.Val661Ala)
|
|
|
|
NM_032634.4(PIGO):c.1982T>G (p.Val661Gly)
|
rs769720030
|
|
|
NM_032634.4(PIGO):c.1991G>C (p.Arg664Pro)
|
rs371923881
|
|
|
NM_032634.4(PIGO):c.2003T>G (p.Leu668Trp)
|
rs746676621
|
|
|
NM_032634.4(PIGO):c.2018G>C (p.Cys673Ser)
|
rs1829439353
|
|
|
NM_032634.4(PIGO):c.2026G>A (p.Ala676Thr)
|
rs1465665122
|
|
|
NM_032634.4(PIGO):c.2027C>T (p.Ala676Val)
|
|
|
|
NM_032634.4(PIGO):c.2030T>G (p.Leu677Arg)
|
rs1587164392
|
|
|
NM_032634.4(PIGO):c.2048C>T (p.Ala683Val)
|
rs1436127368
|
|
|
NM_032634.4(PIGO):c.204G>A (p.Ser68=)
|
|
|
|
NM_032634.4(PIGO):c.2054G>A (p.Arg685His)
|
rs537260013
|
|
|
NM_032634.4(PIGO):c.2054_2055delinsTT (p.Arg685Leu)
|
rs1829436323
|
|
|
NM_032634.4(PIGO):c.2066G>C (p.Arg689Pro)
|
rs771748735
|
|
|
NM_032634.4(PIGO):c.2068C>T (p.Arg690Cys)
|
|
|
|
NM_032634.4(PIGO):c.2075G>A (p.Gly692Asp)
|
rs1829434904
|
|
|
NM_032634.4(PIGO):c.2084_2086del (p.Lys695del)
|
rs1436537334
|
|
|
NM_032634.4(PIGO):c.2114G>C (p.Arg705Pro)
|
rs761836966
|
|
|
NM_032634.4(PIGO):c.211G>A (p.Val71Met)
|
rs540103270
|
|
|
NM_032634.4(PIGO):c.2132T>C (p.Met711Thr)
|
rs2131074970
|
|
|
NM_032634.4(PIGO):c.2144C>A (p.Thr715Asn)
|
|
|
|
NM_032634.4(PIGO):c.2158G>A (p.Ala720Thr)
|
rs1829430826
|
|
|
NM_032634.4(PIGO):c.2165C>T (p.Ala722Val)
|
rs895003968
|
|
|
NM_032634.4(PIGO):c.2176G>A (p.Asp726Asn)
|
rs1306054354
|
|
|
NM_032634.4(PIGO):c.2182G>C (p.Ala728Pro)
|
rs1221803789
|
|
|
NM_032634.4(PIGO):c.2182G>T (p.Ala728Ser)
|
rs1221803789
|
|
|
NM_032634.4(PIGO):c.2185C>A (p.Pro729Thr)
|
rs925153680
|
|
|
NM_032634.4(PIGO):c.2188C>T (p.Pro730Ser)
|
rs747418653
|
|
|
NM_032634.4(PIGO):c.2189C>A (p.Pro730His)
|
rs561174794
|
|
|
NM_032634.4(PIGO):c.2189C>G (p.Pro730Arg)
|
|
|
|
NM_032634.4(PIGO):c.2189C>T (p.Pro730Leu)
|
rs561174794
|
|
|
NM_032634.4(PIGO):c.2192G>A (p.Arg731His)
|
rs946030670
|
|
|
NM_032634.4(PIGO):c.2192G>T (p.Arg731Leu)
|
|
|
|
NM_032634.4(PIGO):c.2197C>G (p.Arg733Gly)
|
rs748093757
|
|
|
NM_032634.4(PIGO):c.221T>C (p.Leu74Pro)
|
rs1829622098
|
|
|
NM_032634.4(PIGO):c.2222T>C (p.Met741Thr)
|
|
|
|
NM_032634.4(PIGO):c.2245G>A (p.Gly749Arg)
|
rs1829424417
|
|
|
NM_032634.4(PIGO):c.2252C>T (p.Ala751Val)
|
rs1461400949
|
|
|
NM_032634.4(PIGO):c.2257T>A (p.Ser753Thr)
|
rs2131074572
|
|
|
NM_032634.4(PIGO):c.2258C>T (p.Ser753Leu)
|
rs1473159434
|
|
|
NM_032634.4(PIGO):c.2261G>A (p.Gly754Glu)
|
rs1424475122
|
|
|
NM_032634.4(PIGO):c.2261G>C (p.Gly754Ala)
|
rs1424475122
|
|
|
NM_032634.4(PIGO):c.226G>A (p.Asp76Asn)
|
rs1829621859
|
|
|
NM_032634.4(PIGO):c.2273T>C (p.Leu758Pro)
|
rs1332591691
|
|
|
NM_032634.4(PIGO):c.2281A>C (p.Lys761Gln)
|
rs2131074474
|
|
|
NM_032634.4(PIGO):c.2284C>G (p.Pro762Ala)
|
rs752700560
|
|
|
NM_032634.4(PIGO):c.2299G>T (p.Val767Leu)
|
rs1237902622
|
|
|
NM_032634.4(PIGO):c.2308G>A (p.Gly770Arg)
|
rs2131074356
|
|
|
NM_032634.4(PIGO):c.2309G>C (p.Gly770Ala)
|
|
|
|
NM_032634.4(PIGO):c.230C>T (p.Ala77Val)
|
rs1489992993
|
|
|
NM_032634.4(PIGO):c.2315G>A (p.Gly772Asp)
|
rs2131074331
|
|
|
NM_032634.4(PIGO):c.2325G>T (p.Arg775Ser)
|
rs367815008
|
|
|
NM_032634.4(PIGO):c.2326A>G (p.Thr776Ala)
|
rs1829419277
|
|
|
NM_032634.4(PIGO):c.2345C>T (p.Pro782Leu)
|
|
|
|
NM_032634.4(PIGO):c.2363C>A (p.Thr788Asn)
|
rs1390807512
|
|
|
NM_032634.4(PIGO):c.2371G>A (p.Ala791Thr)
|
|
|
|
NM_032634.4(PIGO):c.2380G>A (p.Asp794Asn)
|
rs1394125837
|
|
|
NM_032634.4(PIGO):c.23T>C (p.Leu8Pro)
|
rs755191263
|
|
|
NM_032634.4(PIGO):c.2414A>G (p.Gln805Arg)
|
rs1829412566
|
|
|
NM_032634.4(PIGO):c.2426G>A (p.Arg809Gln)
|
|
|
|
NM_032634.4(PIGO):c.2431C>G (p.Arg811Gly)
|
rs140470862
|
|
|
NM_032634.4(PIGO):c.2447A>C (p.Lys816Thr)
|
|
|
|
NM_032634.4(PIGO):c.244T>G (p.Phe82Val)
|
|
|
|
NM_032634.4(PIGO):c.2470G>A (p.Ala824Thr)
|
rs1452787176
|
|
|
NM_032634.4(PIGO):c.2471C>G (p.Ala824Gly)
|
rs1248760414
|
|
|
NM_032634.4(PIGO):c.247G>A (p.Ala83Thr)
|
rs1171298718
|
|
|
NM_032634.4(PIGO):c.2488A>G (p.Ser830Gly)
|
rs1201442869
|
|
|
NM_032634.4(PIGO):c.252G>C (p.Gln84His)
|
rs1829620198
|
|
|
NM_032634.4(PIGO):c.253C>G (p.Pro85Ala)
|
rs745754359
|
|
|
NM_032634.4(PIGO):c.2555_2572del (p.Ala852_Leu857del)
|
rs1829403799
|
|
|
NM_032634.4(PIGO):c.2560C>T (p.Arg854Cys)
|
|
|
|
NM_032634.4(PIGO):c.2564T>C (p.Ile855Thr)
|
|
|
|
NM_032634.4(PIGO):c.259C>T (p.His87Tyr)
|
rs1014636057
|
|
|
NM_032634.4(PIGO):c.2607_2609del (p.Leu870del)
|
rs1829402902
|
|
|
NM_032634.4(PIGO):c.2627G>A (p.Gly876Glu)
|
rs1057524330
|
|
|
NM_032634.4(PIGO):c.2670G>T (p.Gln890His)
|
rs2131072103
|
|
|
NM_032634.4(PIGO):c.2693T>C (p.Met898Thr)
|
rs1829374920
|
|
|
NM_032634.4(PIGO):c.2707T>G (p.Phe903Val)
|
rs1009399563
|
|
|
NM_032634.4(PIGO):c.2708_2710del (p.Phe903del)
|
|
|
|
NM_032634.4(PIGO):c.2711_2713del (p.Tyr904del)
|
|
|
|
NM_032634.4(PIGO):c.2731G>A (p.Val911Ile)
|
rs779624264
|
|
|
NM_032634.4(PIGO):c.2741C>T (p.Ala914Val)
|
|
|
|
NM_032634.4(PIGO):c.2743A>G (p.Ile915Val)
|
rs1554672147
|
|
|
NM_032634.4(PIGO):c.2779G>A (p.Gly927Ser)
|
rs1444732315
|
|
|
NM_032634.4(PIGO):c.2815G>C (p.Val939Leu)
|
rs2131071645
|
|
|
NM_032634.4(PIGO):c.2818G>A (p.Gly940Arg)
|
rs900520761
|
|
|
NM_032634.4(PIGO):c.2833G>T (p.Ala945Ser)
|
|
|
|
NM_032634.4(PIGO):c.283C>T (p.Pro95Ser)
|
|
|
|
NM_032634.4(PIGO):c.2842CTC[1] (p.Leu949del)
|
|
|
|
NM_032634.4(PIGO):c.2845C>G (p.Leu949Val)
|
rs2131071575
|
|
|
NM_032634.4(PIGO):c.2851G>T (p.Ala951Ser)
|
rs1243487347
|
|
|
NM_032634.4(PIGO):c.2855-17_2855-16dup
|
|
|
|
NM_032634.4(PIGO):c.2872C>A (p.Leu958Met)
|
rs991755076
|
|
|
NM_032634.4(PIGO):c.2881C>T (p.Pro961Ser)
|
rs771759492
|
|
|
NM_032634.4(PIGO):c.2886C>G (p.Phe962Leu)
|
|
|
|
NM_032634.4(PIGO):c.2890T>C (p.Cys964Arg)
|
rs1829353889
|
|
|
NM_032634.4(PIGO):c.2895G>A (p.Glu965=)
|
|
|
|
NM_032634.4(PIGO):c.2912A>G (p.Lys971Arg)
|
rs1829352416
|
|
|
NM_032634.4(PIGO):c.2930G>A (p.Gly977Glu)
|
rs1587158391
|
|
|
NM_032634.4(PIGO):c.2934T>G (p.Asn978Lys)
|
rs780217709
|
|
|
NM_032634.4(PIGO):c.2943T>A (p.Asp981Glu)
|
rs1829350572
|
|
|
NM_032634.4(PIGO):c.2944G>A (p.Ala982Thr)
|
rs1183627091
|
|
|
NM_032634.4(PIGO):c.2945C>T (p.Ala982Val)
|
|
|
|
NM_032634.4(PIGO):c.2947A>G (p.Arg983Gly)
|
|
|
|
NM_032634.4(PIGO):c.2957C>A (p.Pro986His)
|
rs1255026795
|
|
|
NM_032634.4(PIGO):c.2959G>A (p.Glu987Lys)
|
rs550176742
|
|
|
NM_032634.4(PIGO):c.2988G>C (p.Met996Ile)
|
rs759177338
|
|
|
NM_032634.4(PIGO):c.298T>C (p.Phe100Leu)
|
rs1564002038
|
|
|
NM_032634.4(PIGO):c.298T>G (p.Phe100Val)
|
rs1564002038
|
|
|
NM_032634.4(PIGO):c.2990G>T (p.Arg997Leu)
|
rs770280569
|
|
|
NM_032634.4(PIGO):c.299T>C (p.Phe100Ser)
|
|
|
|
NM_032634.4(PIGO):c.3002C>A (p.Ala1001Glu)
|
|
|
|
NM_032634.4(PIGO):c.3020C>G (p.Ala1007Gly)
|
|
|
|
NM_032634.4(PIGO):c.3038G>T (p.Gly1013Val)
|
rs1829343312
|
|
|
NM_032634.4(PIGO):c.3086T>C (p.Leu1029Ser)
|
rs1829316706
|
|
|
NM_032634.4(PIGO):c.3098T>C (p.Ile1033Thr)
|
rs1587155838
|
|
|
NM_032634.4(PIGO):c.3099C>G (p.Ile1033Met)
|
rs1587155827
|
|
|
NM_032634.4(PIGO):c.3104G>T (p.Arg1035Leu)
|
rs763001837
|
|
|
NM_032634.4(PIGO):c.3107G>A (p.Arg1036Lys)
|
rs764658486
|
|
|
NM_032634.4(PIGO):c.3118G>T (p.Val1040Phe)
|
|
|
|
NM_032634.4(PIGO):c.3138del (p.Lys1047fs)
|
|
|
|
NM_032634.4(PIGO):c.3141-9T>G
|
|
|
|
NM_032634.4(PIGO):c.3154_3155delinsTT (p.Ala1052Phe)
|
rs1829305473
|
|
|
NM_032634.4(PIGO):c.3167T>G (p.Ile1056Ser)
|
rs1563992694
|
|
|
NM_032634.4(PIGO):c.3178G>C (p.Val1060Leu)
|
|
|
|
NM_032634.4(PIGO):c.317C>T (p.Ser106Phe)
|
rs1346782397
|
|
|
NM_032634.4(PIGO):c.3199G>C (p.Ala1067Pro)
|
|
|
|
NM_032634.4(PIGO):c.3212G>A (p.Arg1071Lys)
|
rs1829302818
|
|
|
NM_032634.4(PIGO):c.3233C>G (p.Ser1078Cys)
|
|
|
|
NM_032634.4(PIGO):c.3253C>A (p.Leu1085Met)
|
rs1829299184
|
|
|
NM_032634.4(PIGO):c.3259C>T (p.Gln1087Ter)
|
rs768738759
|
|
|
NM_032634.4(PIGO):c.3261_3262delinsAG (p.Gln1088Glu)
|
|
|
|
NM_032634.4(PIGO):c.3262C>G (p.Gln1088Glu)
|
rs771799139
|
|
|
NM_032634.4(PIGO):c.350A>G (p.His117Arg)
|
|
|
|
NM_032634.4(PIGO):c.361T>A (p.Tyr121Asn)
|
rs2131083704
|
|
|
NM_032634.4(PIGO):c.370C>G (p.Gln124Glu)
|
|
|
|
NM_032634.4(PIGO):c.412C>T (p.Leu138Phe)
|
rs1057518551
|
|
|
NM_032634.4(PIGO):c.418A>G (p.Thr140Ala)
|
rs1564001736
|
|
|
NM_032634.4(PIGO):c.433A>G (p.Thr145Ala)
|
rs1038361434
|
|
|
NM_032634.4(PIGO):c.437T>G (p.Phe146Cys)
|
rs2131083426
|
|
|
NM_032634.4(PIGO):c.452G>A (p.Ser151Asn)
|
rs771252279
|
|
|
NM_032634.4(PIGO):c.470C>T (p.Ala157Val)
|
rs764817207
|
|
|
NM_032634.4(PIGO):c.485A>G (p.Asn162Ser)
|
rs1480805750
|
|
|
NM_032634.4(PIGO):c.512-3C>A
|
rs2131081917
|
|
|
NM_032634.4(PIGO):c.512-5T>A
|
|
|
|
NM_032634.4(PIGO):c.517C>T (p.Arg173Cys)
|
|
|
|
NM_032634.4(PIGO):c.523G>T (p.Val175Phe)
|
rs1829572491
|
|
|
NM_032634.4(PIGO):c.530T>C (p.Met177Thr)
|
rs1829572371
|
|
|
NM_032634.4(PIGO):c.540T>A (p.Asp180Glu)
|
rs776571289
|
|
|
NM_032634.4(PIGO):c.55G>T (p.Ala19Ser)
|
rs765218861
|
|
|
NM_032634.4(PIGO):c.565G>T (p.Ala189Ser)
|
rs746960142
|
|
|
NM_032634.4(PIGO):c.56C>T (p.Ala19Val)
|
rs1554673856
|
|
|
NM_032634.4(PIGO):c.583T>C (p.Phe195Leu)
|
rs1421287635
|
|
|
NM_032634.4(PIGO):c.588C>G (p.Phe196Leu)
|
|
|
|
NM_032634.4(PIGO):c.613G>A (p.Asp205Asn)
|
|
|
|
NM_032634.4(PIGO):c.617C>T (p.Thr206Ile)
|
|
|
|
NM_032634.4(PIGO):c.628G>A (p.Gly210Ser)
|
|
|
|
NM_032634.4(PIGO):c.629G>A (p.Gly210Asp)
|
rs2131081522
|
|
|
NM_032634.4(PIGO):c.63T>G (p.Ile21Met)
|
rs776535706
|
|
|
NM_032634.4(PIGO):c.655+4A>T
|
|
|
|
NM_032634.4(PIGO):c.672G>T (p.Trp224Cys)
|
rs760792660
|
|
|
NM_032634.4(PIGO):c.679C>G (p.Leu227Val)
|
|
|
|
NM_032634.4(PIGO):c.67C>T (p.Leu23Phe)
|
rs1396810510
|
|
|
NM_032634.4(PIGO):c.715C>T (p.His239Tyr)
|
rs1273593671
|
|
|
NM_032634.4(PIGO):c.728C>T (p.Pro243Leu)
|
rs1829553189
|
|
|
NM_032634.4(PIGO):c.737C>G (p.Pro246Arg)
|
rs746364157
|
|
|
NM_032634.4(PIGO):c.737C>T (p.Pro246Leu)
|
|
|
|
NM_032634.4(PIGO):c.764T>C (p.Met255Thr)
|
rs1829550983
|
|
|
NM_032634.4(PIGO):c.765G>T (p.Met255Ile)
|
rs1829550863
|
|
|
NM_032634.4(PIGO):c.779A>G (p.Gln260Arg)
|
|
|
|
NM_032634.4(PIGO):c.781G>A (p.Gly261Arg)
|
|
|
|
NM_032634.4(PIGO):c.787G>A (p.Val263Met)
|
rs1829535554
|
|
|
NM_032634.4(PIGO):c.79G>A (p.Gly27Ser)
|
rs1829630935
|
|
|
NM_032634.4(PIGO):c.829G>C (p.Asp277His)
|
rs1265192200
|
|
|
NM_032634.4(PIGO):c.838A>T (p.Met280Leu)
|
rs755227595
|
|
|
NM_032634.4(PIGO):c.856C>A (p.His286Asn)
|
rs1587171258
|
|
|
NM_032634.4(PIGO):c.866A>G (p.Asp289Gly)
|
|
|
|
NM_032634.4(PIGO):c.899T>A (p.Leu300Gln)
|
|
|
|
NM_032634.4(PIGO):c.908C>G (p.Pro303Arg)
|
rs1587170972
|
|
|
NM_032634.4(PIGO):c.929C>A (p.Thr310Asn)
|
rs770257536
|
|
|
NM_032634.4(PIGO):c.942G>T (p.Glu314Asp)
|
rs764488316
|
|
|
NM_032634.4(PIGO):c.946G>A (p.Glu316Lys)
|
rs377198873
|
|
|
NM_032634.4(PIGO):c.94C>T (p.Arg32Cys)
|
rs1057180311
|
|
|
NM_032634.4(PIGO):c.962T>C (p.Val321Ala)
|
rs1829514099
|
|
|
NM_032634.4(PIGO):c.974C>G (p.Pro325Arg)
|
rs1364028691
|
|
|
NM_058216.3(RAD51C):c.-19G>T
|
rs375889604
|
|
|
NM_058216.3(RAD51C):c.-3G>A
|
rs864622151
|
|
|
NM_058216.3(RAD51C):c.1000_1002del (p.Glu334del)
|
|
|
|
NM_058216.3(RAD51C):c.1003T>C (p.Cys335Arg)
|
|
|
|
NM_058216.3(RAD51C):c.1004G>A (p.Cys335Tyr)
|
rs786203846
|
|
|
NM_058216.3(RAD51C):c.1007C>T (p.Thr336Ile)
|
rs2144045960
|
|
|
NM_058216.3(RAD51C):c.1009G>A (p.Val337Ile)
|
rs2049473367
|
|
|
NM_058216.3(RAD51C):c.1009G>C (p.Val337Leu)
|
rs2049473367
|
|
|
NM_058216.3(RAD51C):c.1009G>T (p.Val337Leu)
|
rs2049473367
|
|
|
NM_058216.3(RAD51C):c.100A>C (p.Thr34Pro)
|
rs2143678482
|
|
|
NM_058216.3(RAD51C):c.1013_1024del (p.Leu338_Lys342delinsGln)
|
rs780080251
|
|
|
NM_058216.3(RAD51C):c.101C>T (p.Thr34Ile)
|
rs762230288
|
|
|
NM_058216.3(RAD51C):c.1021A>G (p.Ile341Val)
|
rs2049473872
|
|
|
NM_058216.3(RAD51C):c.1026+4A>T
|
|
|
|
NM_058216.3(RAD51C):c.1026+5G>C
|
|
|
|
NM_058216.3(RAD51C):c.1027-10T>A
|
rs2049558368
|
|
|
NM_058216.3(RAD51C):c.1027-1G>A
|
rs1567818502
|
|
|
NM_058216.3(RAD51C):c.1027-1G>T
|
rs1567818502
|
|
|
NM_058216.3(RAD51C):c.1027-2A>G
|
rs587780835
|
|
|
NM_058216.3(RAD51C):c.1027-3C>G
|
rs587782459
|
|
|
NM_058216.3(RAD51C):c.1027C>T (p.Pro343Ser)
|
rs786201890
|
|
|
NM_058216.3(RAD51C):c.1032G>C (p.Gln344His)
|
rs876658609
|
|
|
NM_058216.3(RAD51C):c.1037T>C (p.Phe346Ser)
|
rs1555605530
|
|
|
NM_058216.3(RAD51C):c.1038T>A (p.Phe346Leu)
|
rs2144060353
|
|
|
NM_058216.3(RAD51C):c.103G>T (p.Ala35Ser)
|
rs1432320770
|
|
|
NM_058216.3(RAD51C):c.1040G>T (p.Arg347Ile)
|
|
|
|
NM_058216.3(RAD51C):c.1042G>C (p.Asp348His)
|
|
|
|
NM_058216.3(RAD51C):c.1042G>T (p.Asp348Tyr)
|
rs1555605533
|
|
|
NM_058216.3(RAD51C):c.1044T>G (p.Asp348Glu)
|
rs2144060550
|
|
|
NM_058216.3(RAD51C):c.1045A>C (p.Thr349Pro)
|
|
|
|
NM_058216.3(RAD51C):c.1045A>G (p.Thr349Ala)
|
rs1567818564
|
|
|
NM_058216.3(RAD51C):c.1048G>A (p.Val350Ile)
|
rs1473651696
|
|
|
NM_058216.3(RAD51C):c.1048G>C (p.Val350Leu)
|
|
|
|
NM_058216.3(RAD51C):c.1048G>T (p.Val350Phe)
|
rs1473651696
|
|
|
NM_058216.3(RAD51C):c.1048GTT[3] (p.Val351dup)
|
rs2049560991
|
|
|
NM_058216.3(RAD51C):c.104C>G (p.Ala35Gly)
|
rs1555592011
|
|
|
NM_058216.3(RAD51C):c.104C>T (p.Ala35Val)
|
rs1555592011
|
|
|
NM_058216.3(RAD51C):c.1054A>T (p.Thr352Ser)
|
|
|
|
NM_058216.3(RAD51C):c.1058C>A (p.Ser353Tyr)
|
|
|
|
NM_058216.3(RAD51C):c.1060G>A (p.Ala354Thr)
|
rs1060502590
|
|
|
NM_058216.3(RAD51C):c.1063T>C (p.Cys355Arg)
|
rs587782426
|
|
|
NM_058216.3(RAD51C):c.1067C>T (p.Ser356Leu)
|
rs773843495
|
|
|
NM_058216.3(RAD51C):c.1070T>G (p.Leu357Trp)
|
|
|
|
NM_058216.3(RAD51C):c.1072C>A (p.Gln358Lys)
|
|
|
|
NM_058216.3(RAD51C):c.1072C>G (p.Gln358Glu)
|
rs2049563238
|
|
|
NM_058216.3(RAD51C):c.1073A>G (p.Gln358Arg)
|
rs1567818677
|
|
|
NM_058216.3(RAD51C):c.1073A>T (p.Gln358Leu)
|
rs1567818677
|
|
|
NM_058216.3(RAD51C):c.1074_1110del (p.Glu360fs)
|
rs1343626760
|
|
|
NM_058216.3(RAD51C):c.1075A>G (p.Thr359Ala)
|
|
|
|
NM_058216.3(RAD51C):c.1075A>T (p.Thr359Ser)
|
rs1368752573
|
|
|
NM_058216.3(RAD51C):c.1076C>T (p.Thr359Ile)
|
|
|
|
NM_058216.3(RAD51C):c.1082G>A (p.Gly361Asp)
|
rs2049564193
|
|
|
NM_058216.3(RAD51C):c.1082G>T (p.Gly361Val)
|
|
|
|
NM_058216.3(RAD51C):c.1085C>T (p.Ser362Phe)
|
rs2049564336
|
|
|
NM_058216.3(RAD51C):c.1088T>C (p.Leu363Ser)
|
rs2144062004
|
|
|
NM_058216.3(RAD51C):c.1090A>C (p.Ser364Arg)
|
rs587782565
|
|
|
NM_058216.3(RAD51C):c.1091G>A (p.Ser364Asn)
|
|
|
|
NM_058216.3(RAD51C):c.1092C>G (p.Ser364Arg)
|
rs863224805
|
|
|
NM_058216.3(RAD51C):c.1093A>C (p.Thr365Pro)
|
rs1350543873
|
|
|
NM_058216.3(RAD51C):c.1093A>T (p.Thr365Ser)
|
rs1350543873
|
|
|
NM_058216.3(RAD51C):c.1094C>A (p.Thr365Asn)
|
rs755838887
|
|
|
NM_058216.3(RAD51C):c.1094C>G (p.Thr365Ser)
|
rs755838887
|
|
|
NM_058216.3(RAD51C):c.1094C>T (p.Thr365Ile)
|
rs755838887
|
|
|
NM_058216.3(RAD51C):c.1097G>C (p.Arg366Pro)
|
rs577852020
|
|
|
NM_058216.3(RAD51C):c.1098del (p.Lys367fs)
|
rs2144062356
|
|
|
NM_058216.3(RAD51C):c.1099A>C (p.Lys367Gln)
|
rs1598540332
|
|
|
NM_058216.3(RAD51C):c.109G>A (p.Glu37Lys)
|
|
|
|
NM_058216.3(RAD51C):c.109G>C (p.Glu37Gln)
|
rs1064794145
|
|
|
NM_058216.3(RAD51C):c.10A>C (p.Lys4Gln)
|
|
|
|
NM_058216.3(RAD51C):c.10A>G (p.Lys4Glu)
|
|
|
|
NM_058216.3(RAD51C):c.1103G>A (p.Arg368Gln)
|
rs1378390389
|
|
|
NM_058216.3(RAD51C):c.1103G>T (p.Arg368Leu)
|
rs1378390389
|
|
|
NM_058216.3(RAD51C):c.1106C>T (p.Ser369Leu)
|
rs2049566471
|
|
|
NM_058216.3(RAD51C):c.1108C>G (p.Arg370Gly)
|
|
|
|
NM_058216.3(RAD51C):c.1111G>A (p.Asp371Asn)
|
|
|
|
NM_058216.3(RAD51C):c.1111_1112del (p.Asp371fs)
|
|
|
|
NM_058216.3(RAD51C):c.1113C>A (p.Asp371Glu)
|
rs1598540411
|
|
|
NM_058216.3(RAD51C):c.1113C>G (p.Asp371Glu)
|
rs1598540411
|
|
|
NM_058216.3(RAD51C):c.1114C>A (p.Pro372Thr)
|
|
|
|
NM_058216.3(RAD51C):c.1120G>A (p.Glu374Lys)
|
rs1598540478
|
|
|
NM_058216.3(RAD51C):c.1123G>A (p.Glu375Lys)
|
rs1555605640
|
|
|
NM_058216.3(RAD51C):c.1126T>A (p.Leu376Ile)
|
rs864622632
|
|
|
NM_058216.3(RAD51C):c.1127_1129del (p.Leu376del)
|
rs1232402052
|
|
|
NM_058216.3(RAD51C):c.112C>T (p.Leu38Phe)
|
|
|
|
NM_058216.3(RAD51C):c.113T>C (p.Leu38Pro)
|
rs1555592021
|
|
|
NM_058216.3(RAD51C):c.115C>G (p.Leu39Val)
|
rs759149207
|
|
|
NM_058216.3(RAD51C):c.116T>G (p.Leu39Arg)
|
|
|
|
NM_058216.3(RAD51C):c.118G>A (p.Glu40Lys)
|
rs786204086
|
|
|
NM_058216.3(RAD51C):c.119A>G (p.Glu40Gly)
|
rs1555592039
|
|
|
NM_058216.3(RAD51C):c.11A>G (p.Lys4Arg)
|
rs2047798678
|
|
|
NM_058216.3(RAD51C):c.120G>C (p.Glu40Asp)
|
rs2143679565
|
|
|
NM_058216.3(RAD51C):c.121G>T (p.Val41Leu)
|
rs879254131
|
|
|
NM_058216.3(RAD51C):c.122T>C (p.Val41Ala)
|
|
|
|
NM_058216.3(RAD51C):c.127C>A (p.Pro43Thr)
|
rs1442559963
|
|
|
NM_058216.3(RAD51C):c.127C>G (p.Pro43Ala)
|
|
|
|
NM_058216.3(RAD51C):c.127C>T (p.Pro43Ser)
|
rs1442559963
|
|
|
NM_058216.3(RAD51C):c.12G>C (p.Lys4Asn)
|
|
|
|
NM_058216.3(RAD51C):c.131C>A (p.Ser44Tyr)
|
|
|
|
NM_058216.3(RAD51C):c.131C>T (p.Ser44Phe)
|
|
|
|
NM_058216.3(RAD51C):c.132_133delinsTA (p.Glu45Lys)
|
rs1555592076
|
|
|
NM_058216.3(RAD51C):c.133G>A (p.Glu45Lys)
|
|
|
|
NM_058216.3(RAD51C):c.134A>C (p.Glu45Ala)
|
rs587781383
|
|
|
NM_058216.3(RAD51C):c.135G>C (p.Glu45Asp)
|
rs371608994
|
|
|
NM_058216.3(RAD51C):c.136C>A (p.Leu46Ile)
|
rs1423724305
|
|
|
NM_058216.3(RAD51C):c.137T>C (p.Leu46Pro)
|
|
|
|
NM_058216.3(RAD51C):c.139A>C (p.Ser47Arg)
|
rs2047818737
|
|
|
NM_058216.3(RAD51C):c.139A>G (p.Ser47Gly)
|
rs2047818737
|
|
|
NM_058216.3(RAD51C):c.13A>G (p.Thr5Ala)
|
|
|
|
NM_058216.3(RAD51C):c.13A>T (p.Thr5Ser)
|
rs1314517659
|
|
|
NM_058216.3(RAD51C):c.140G>A (p.Ser47Asn)
|
rs2047818916
|
|
|
NM_058216.3(RAD51C):c.141C>A (p.Ser47Arg)
|
|
|
|
NM_058216.3(RAD51C):c.142A>G (p.Lys48Glu)
|
|
|
|
NM_058216.3(RAD51C):c.142_144del (p.Lys48del)
|
|
|
|
NM_058216.3(RAD51C):c.143A>G (p.Lys48Arg)
|
rs2143680972
|
|
|
NM_058216.3(RAD51C):c.144A>G (p.Lys48=)
|
|
|
|
NM_058216.3(RAD51C):c.145+18C>T
|
rs763292447
|
|
|
NM_058216.3(RAD51C):c.145+2_145+3insTT
|
rs1567783294
|
|
|
NM_058216.3(RAD51C):c.145+3A>G
|
rs536596205
|
|
|
NM_058216.3(RAD51C):c.145+4A>G
|
rs1598449822
|
|
|
NM_058216.3(RAD51C):c.145+4dup
|
|
|
|
NM_058216.3(RAD51C):c.145G>A (p.Glu49Lys)
|
rs753709131
|
|
|
NM_058216.3(RAD51C):c.146-2A>G
|
rs1555593457
|
|
|
NM_058216.3(RAD51C):c.146-3C>G
|
rs765143155
|
|
|
NM_058216.3(RAD51C):c.14C>G (p.Thr5Arg)
|
rs201523760
|
|
|
NM_058216.3(RAD51C):c.151G>A (p.Gly51Arg)
|
|
|
|
NM_058216.3(RAD51C):c.152G>C (p.Gly51Ala)
|
rs758236529
|
|
|
NM_058216.3(RAD51C):c.152G>T (p.Gly51Val)
|
rs758236529
|
|
|
NM_058216.3(RAD51C):c.154A>G (p.Ile52Val)
|
rs730881927
|
|
|
NM_058216.3(RAD51C):c.155T>A (p.Ile52Lys)
|
|
|
|
NM_058216.3(RAD51C):c.155T>G (p.Ile52Arg)
|
rs2143717510
|
|
|
NM_058216.3(RAD51C):c.156A>G (p.Ile52Met)
|
rs2047940282
|
|
|
NM_058216.3(RAD51C):c.157T>C (p.Ser53Pro)
|
rs2047940381
|
|
|
NM_058216.3(RAD51C):c.158C>G (p.Ser53Cys)
|
rs876659265
|
|
|
NM_058216.3(RAD51C):c.160A>G (p.Lys54Glu)
|
rs2047940709
|
|
|
NM_058216.3(RAD51C):c.163G>A (p.Ala55Thr)
|
rs1555593472
|
|
|
NM_058216.3(RAD51C):c.167A>G (p.Glu56Gly)
|
rs1567785734
|
|
|
NM_058216.3(RAD51C):c.168A>T (p.Glu56Asp)
|
|
|
|
NM_058216.3(RAD51C):c.169G>A (p.Ala57Thr)
|
rs1567785745
|
|
|
NM_058216.3(RAD51C):c.169G>T (p.Ala57Ser)
|
rs1567785745
|
|
|
NM_058216.3(RAD51C):c.170C>G (p.Ala57Gly)
|
rs1598455307
|
|
|
NM_058216.3(RAD51C):c.175G>A (p.Glu59Lys)
|
rs2143718252
|
|
|
NM_058216.3(RAD51C):c.178A>G (p.Thr60Ala)
|
rs2047941918
|
|
|
NM_058216.3(RAD51C):c.17T>A (p.Phe6Tyr)
|
rs771332058
|
|
|
NM_058216.3(RAD51C):c.17T>G (p.Phe6Cys)
|
rs771332058
|
|
|
NM_058216.3(RAD51C):c.181_189del (p.Leu61_Ile63del)
|
|
|
|
NM_058216.3(RAD51C):c.186A>C (p.Gln62His)
|
rs28363303
|
|
|
NM_058216.3(RAD51C):c.187A>G (p.Ile63Val)
|
rs876659694
|
|
|
NM_058216.3(RAD51C):c.189_191del (p.Ile64del)
|
rs1555593498
|
|
|
NM_058216.3(RAD51C):c.18C>A (p.Phe6Leu)
|
rs774685897
|
|
|
NM_058216.3(RAD51C):c.18C>G (p.Phe6Leu)
|
rs774685897
|
|
|
NM_058216.3(RAD51C):c.190A>G (p.Ile64Val)
|
rs770335248
|
|
|
NM_058216.3(RAD51C):c.190A>T (p.Ile64Phe)
|
rs770335248
|
|
|
NM_058216.3(RAD51C):c.191T>C (p.Ile64Thr)
|
rs1555593511
|
|
|
NM_058216.3(RAD51C):c.193A>G (p.Arg65Gly)
|
rs1227348505
|
|
|
NM_058216.3(RAD51C):c.198A>T (p.Arg66Ser)
|
rs1060502585
|
|
|
NM_058216.3(RAD51C):c.19C>G (p.Arg7Gly)
|
rs759759863
|
|
|
NM_058216.3(RAD51C):c.19C>T (p.Arg7Cys)
|
rs759759863
|
|
|
NM_058216.3(RAD51C):c.1A>T (p.Met1Leu)
|
rs921435798
|
|
|
NM_058216.3(RAD51C):c.206T>C (p.Leu69Pro)
|
rs1555593527
|
|
|
NM_058216.3(RAD51C):c.208A>T (p.Thr70Ser)
|
|
|
|
NM_058216.3(RAD51C):c.209C>T (p.Thr70Ile)
|
rs1060502599
|
|
|
NM_058216.3(RAD51C):c.20G>C (p.Arg7Pro)
|
rs892567748
|
|
|
NM_058216.3(RAD51C):c.20G>T (p.Arg7Leu)
|
rs892567748
|
|
|
NM_058216.3(RAD51C):c.211A>C (p.Asn71His)
|
rs876659936
|
|
|
NM_058216.3(RAD51C):c.211A>T (p.Asn71Tyr)
|
rs876659936
|
|
|
NM_058216.3(RAD51C):c.212A>C (p.Asn71Thr)
|
rs1598455555
|
|
|
NM_058216.3(RAD51C):c.212A>G (p.Asn71Ser)
|
rs1598455555
|
|
|
NM_058216.3(RAD51C):c.217C>A (p.Pro73Thr)
|
rs1555593541
|
|
|
NM_058216.3(RAD51C):c.217C>G (p.Pro73Ala)
|
rs1555593541
|
|
|
NM_058216.3(RAD51C):c.217C>T (p.Pro73Ser)
|
rs1555593541
|
|
|
NM_058216.3(RAD51C):c.221G>A (p.Arg74Lys)
|
rs2143720177
|
|
|
NM_058216.3(RAD51C):c.222A>C (p.Arg74Ser)
|
|
|
|
NM_058216.3(RAD51C):c.222A>G (p.Arg74=)
|
rs2047945471
|
|
|
NM_058216.3(RAD51C):c.224A>G (p.Tyr75Cys)
|
rs2047945655
|
|
|
NM_058216.3(RAD51C):c.224A>T (p.Tyr75Phe)
|
|
|
|
NM_058216.3(RAD51C):c.226G>A (p.Ala76Thr)
|
rs1598455619
|
|
|
NM_058216.3(RAD51C):c.227C>A (p.Ala76Asp)
|
rs760175119
|
|
|
NM_058216.3(RAD51C):c.227C>G (p.Ala76Gly)
|
rs760175119
|
|
|
NM_058216.3(RAD51C):c.229G>T (p.Gly77Cys)
|
rs2143720670
|
|
|
NM_058216.3(RAD51C):c.22T>A (p.Phe8Ile)
|
|
|
|
NM_058216.3(RAD51C):c.22T>C (p.Phe8Leu)
|
|
|
|
NM_058216.3(RAD51C):c.230G>C (p.Gly77Ala)
|
rs1449359018
|
|
|
NM_058216.3(RAD51C):c.235T>A (p.Ser79Thr)
|
rs1567786001
|
|
|
NM_058216.3(RAD51C):c.235T>G (p.Ser79Ala)
|
|
|
|
NM_058216.3(RAD51C):c.236C>G (p.Ser79Cys)
|
|
|
|
NM_058216.3(RAD51C):c.236C>T (p.Ser79Phe)
|
rs1555593569
|
|
|
NM_058216.3(RAD51C):c.240G>T (p.Glu80Asp)
|
rs779053608
|
|
|
NM_058216.3(RAD51C):c.242C>T (p.Ser81Leu)
|
rs1555593587
|
|
|
NM_058216.3(RAD51C):c.244C>T (p.His82Tyr)
|
rs1555593593
|
|
|
NM_058216.3(RAD51C):c.245A>G (p.His82Arg)
|
rs1555593600
|
|
|
NM_058216.3(RAD51C):c.246C>G (p.His82Gln)
|
rs1555593602
|
|
|
NM_058216.3(RAD51C):c.247A>G (p.Lys83Glu)
|
rs2047947712
|
|
|
NM_058216.3(RAD51C):c.248A>C (p.Lys83Thr)
|
rs1333679774
|
|
|
NM_058216.3(RAD51C):c.249G>C (p.Lys83Asn)
|
rs145387081
|
|
|
NM_058216.3(RAD51C):c.24T>A (p.Phe8Leu)
|
rs587782698
|
|
|
NM_058216.3(RAD51C):c.251A>G (p.Lys84Arg)
|
rs1372016419
|
|
|
NM_058216.3(RAD51C):c.253T>G (p.Cys85Gly)
|
rs1060502595
|
|
|
NM_058216.3(RAD51C):c.254G>A (p.Cys85Tyr)
|
rs1555593627
|
|
|
NM_058216.3(RAD51C):c.254G>T (p.Cys85Phe)
|
|
|
|
NM_058216.3(RAD51C):c.256A>G (p.Thr86Ala)
|
|
|
|
NM_058216.3(RAD51C):c.257C>A (p.Thr86Lys)
|
|
|
|
NM_058216.3(RAD51C):c.257C>T (p.Thr86Ile)
|
rs876658986
|
|
|
NM_058216.3(RAD51C):c.259G>A (p.Ala87Thr)
|
rs1598455803
|
|
|
NM_058216.3(RAD51C):c.259G>T (p.Ala87Ser)
|
rs1598455803
|
|
|
NM_058216.3(RAD51C):c.260C>A (p.Ala87Glu)
|
rs1567786127
|
|
|
NM_058216.3(RAD51C):c.262C>G (p.Leu88Val)
|
rs786201383
|
|
|
NM_058216.3(RAD51C):c.265G>A (p.Glu89Lys)
|
rs876658197
|
|
|
NM_058216.3(RAD51C):c.265G>C (p.Glu89Gln)
|
rs876658197
|
|
|
NM_058216.3(RAD51C):c.266A>G (p.Glu89Gly)
|
rs2047949402
|
|
|
NM_058216.3(RAD51C):c.268C>T (p.Leu90Phe)
|
rs876659585
|
|
|
NM_058216.3(RAD51C):c.269T>G (p.Leu90Arg)
|
rs1064793934
|
|
|
NM_058216.3(RAD51C):c.26A>T (p.Glu9Val)
|
rs2143673258
|
|
|
NM_058216.3(RAD51C):c.271C>T (p.Leu91Phe)
|
rs1555593653
|
|
|
NM_058216.3(RAD51C):c.274G>A (p.Glu92Lys)
|
rs765304898
|
|
|
NM_058216.3(RAD51C):c.278A>C (p.Gln93Pro)
|
|
|
|
NM_058216.3(RAD51C):c.278A>G (p.Gln93Arg)
|
|
|
|
NM_058216.3(RAD51C):c.280G>A (p.Glu94Lys)
|
rs1277411638
|
|
|
NM_058216.3(RAD51C):c.283C>T (p.His95Tyr)
|
rs1317173760
|
|
|
NM_058216.3(RAD51C):c.284A>C (p.His95Pro)
|
rs1567786210
|
|
|
NM_058216.3(RAD51C):c.284A>G (p.His95Arg)
|
|
|
|
NM_058216.3(RAD51C):c.285T>G (p.His95Gln)
|
rs1555593678
|
|
|
NM_058216.3(RAD51C):c.286A>G (p.Thr96Ala)
|
|
|
|
NM_058216.3(RAD51C):c.287C>T (p.Thr96Ile)
|
|
|
|
NM_058216.3(RAD51C):c.289C>G (p.Gln97Glu)
|
rs1567786232
|
|
|
NM_058216.3(RAD51C):c.28A>G (p.Met10Val)
|
|
|
|
NM_058216.3(RAD51C):c.290A>G (p.Gln97Arg)
|
rs2047951391
|
|
|
NM_058216.3(RAD51C):c.291G>C (p.Gln97His)
|
|
|
|
NM_058216.3(RAD51C):c.293G>C (p.Gly98Ala)
|
rs1060502586
|
|
|
NM_058216.3(RAD51C):c.293G>T (p.Gly98Val)
|
rs1060502586
|
|
|
NM_058216.3(RAD51C):c.296_297delinsCT (p.Phe99Ser)
|
rs1555593696
|
|
|
NM_058216.3(RAD51C):c.298A>G (p.Ile100Val)
|
|
|
|
NM_058216.3(RAD51C):c.299T>A (p.Ile100Lys)
|
rs1567786268
|
|
|
NM_058216.3(RAD51C):c.29T>A (p.Met10Lys)
|
|
|
|
NM_058216.3(RAD51C):c.29T>C (p.Met10Thr)
|
rs730881936
|
|
|
NM_058216.3(RAD51C):c.301A>G (p.Ile101Val)
|
rs1555593699
|
|
|
NM_058216.3(RAD51C):c.304A>G (p.Thr102Ala)
|
rs2143723786
|
|
|
NM_058216.3(RAD51C):c.305C>A (p.Thr102Asn)
|
rs755106004
|
|
|
NM_058216.3(RAD51C):c.305C>T (p.Thr102Ile)
|
rs755106004
|
|
|
NM_058216.3(RAD51C):c.307T>C (p.Phe103Leu)
|
rs1114167446
|
|
|
NM_058216.3(RAD51C):c.308_310del (p.Phe103del)
|
rs1064794253
|
|
|
NM_058216.3(RAD51C):c.309C>G (p.Phe103Leu)
|
rs1484551212
|
|
|
NM_058216.3(RAD51C):c.30G>T (p.Met10Ile)
|
rs775871420
|
|
|
NM_058216.3(RAD51C):c.311G>A (p.Cys104Tyr)
|
rs1598456075
|
|
|
NM_058216.3(RAD51C):c.316G>A (p.Ala106Thr)
|
rs2143724307
|
|
|
NM_058216.3(RAD51C):c.317C>G (p.Ala106Gly)
|
|
|
|
NM_058216.3(RAD51C):c.317C>T (p.Ala106Val)
|
rs1060502594
|
|
|
NM_058216.3(RAD51C):c.319C>G (p.Leu107Val)
|
|
|
|
NM_058216.3(RAD51C):c.322G>C (p.Asp108His)
|
rs1567786361
|
|
|
NM_058216.3(RAD51C):c.323A>G (p.Asp108Gly)
|
rs1555593745
|
|
|
NM_058216.3(RAD51C):c.325G>T (p.Asp109Tyr)
|
rs778313181
|
|
|
NM_058216.3(RAD51C):c.326A>G (p.Asp109Gly)
|
|
|
|
NM_058216.3(RAD51C):c.328A>G (p.Ile110Val)
|
|
|
|
NM_058216.3(RAD51C):c.329T>G (p.Ile110Ser)
|
rs1555593751
|
|
|
NM_058216.3(RAD51C):c.32A>G (p.Gln11Arg)
|
rs730881937
|
|
|
NM_058216.3(RAD51C):c.331C>G (p.Leu111Val)
|
rs1402638488
|
|
|
NM_058216.3(RAD51C):c.332T>C (p.Leu111Pro)
|
|
|
|
NM_058216.3(RAD51C):c.334G>T (p.Gly112Trp)
|
|
|
|
NM_058216.3(RAD51C):c.335G>A (p.Gly112Glu)
|
rs370212314
|
|
|
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)
|
rs370212314
|
|
|
NM_058216.3(RAD51C):c.335G>T (p.Gly112Val)
|
rs370212314
|
|
|
NM_058216.3(RAD51C):c.337G>C (p.Gly113Arg)
|
rs2047954842
|
|
|
NM_058216.3(RAD51C):c.337G>T (p.Gly113Cys)
|
rs2047954842
|
|
|
NM_058216.3(RAD51C):c.338G>A (p.Gly113Asp)
|
rs2047954937
|
|
|
NM_058216.3(RAD51C):c.33G>C (p.Gln11His)
|
|
|
|
NM_058216.3(RAD51C):c.341G>T (p.Gly114Val)
|
rs1555593767
|
|
|
NM_058216.3(RAD51C):c.343G>A (p.Val115Met)
|
rs1202473484
|
|
|
NM_058216.3(RAD51C):c.343G>C (p.Val115Leu)
|
|
|
|
NM_058216.3(RAD51C):c.344T>C (p.Val115Ala)
|
rs779104845
|
|
|
NM_058216.3(RAD51C):c.346C>T (p.Pro116Ser)
|
|
|
|
NM_058216.3(RAD51C):c.347C>A (p.Pro116His)
|
rs2047955710
|
|
|
NM_058216.3(RAD51C):c.347C>G (p.Pro116Arg)
|
rs2047955710
|
|
|
NM_058216.3(RAD51C):c.347C>T (p.Pro116Leu)
|
|
|
|
NM_058216.3(RAD51C):c.34C>G (p.Arg12Gly)
|
rs28910276
|
|
|
NM_058216.3(RAD51C):c.350T>C (p.Leu117Ser)
|
rs1598456283
|
|
|
NM_058216.3(RAD51C):c.352A>G (p.Met118Val)
|
rs2143725777
|
|
|
NM_058216.3(RAD51C):c.356A>G (p.Lys119Arg)
|
rs2047956106
|
|
|
NM_058216.3(RAD51C):c.358ACA[1] (p.Thr121del)
|
rs1555593808
|
|
|
NM_058216.3(RAD51C):c.362C>T (p.Thr121Ile)
|
rs2047956659
|
|
|
NM_058216.3(RAD51C):c.367A>G (p.Ile123Val)
|
rs1555593841
|
|
|
NM_058216.3(RAD51C):c.370T>G (p.Cys124Gly)
|
rs1273995533
|
|
|
NM_058216.3(RAD51C):c.371G>C (p.Cys124Ser)
|
rs2143726574
|
|
|
NM_058216.3(RAD51C):c.371G>T (p.Cys124Phe)
|
rs2143726574
|
|
|
NM_058216.3(RAD51C):c.373G>A (p.Gly125Ser)
|
rs142058115
|
|
|
NM_058216.3(RAD51C):c.374G>A (p.Gly125Asp)
|
rs267606998
|
|
|
NM_058216.3(RAD51C):c.377C>T (p.Ala126Val)
|
rs1555593858
|
|
|
NM_058216.3(RAD51C):c.379C>G (p.Pro127Ala)
|
|
|
|
NM_058216.3(RAD51C):c.379C>T (p.Pro127Ser)
|
rs587782222
|
|
|
NM_058216.3(RAD51C):c.37G>A (p.Asp13Asn)
|
rs1060502603
|
|
|
NM_058216.3(RAD51C):c.37G>C (p.Asp13His)
|
rs1060502603
|
|
|
NM_058216.3(RAD51C):c.380C>G (p.Pro127Arg)
|
|
|
|
NM_058216.3(RAD51C):c.380C>T (p.Pro127Leu)
|
|
|
|
NM_058216.3(RAD51C):c.382G>C (p.Gly128Arg)
|
rs879254160
|
|
|
NM_058216.3(RAD51C):c.383G>T (p.Gly128Val)
|
|
|
|
NM_058216.3(RAD51C):c.386T>C (p.Val129Ala)
|
rs876660641
|
|
|
NM_058216.3(RAD51C):c.388G>C (p.Gly130Arg)
|
|
|
|
NM_058216.3(RAD51C):c.389G>C (p.Gly130Ala)
|
rs2047958982
|
|
|
NM_058216.3(RAD51C):c.391A>C (p.Lys131Gln)
|
rs2143727680
|
|
|
NM_058216.3(RAD51C):c.392A>T (p.Lys131Ile)
|
rs762761380
|
|
|
NM_058216.3(RAD51C):c.395C>A (p.Thr132Lys)
|
|
|
|
NM_058216.3(RAD51C):c.395C>G (p.Thr132Arg)
|
rs730881930
|
|
|
NM_058216.3(RAD51C):c.397C>A (p.Gln133Lys)
|
rs387907159
|
|
|
NM_058216.3(RAD51C):c.398A>C (p.Gln133Pro)
|
|
|
|
NM_058216.3(RAD51C):c.3G>C (p.Met1Ile)
|
rs769053886
|
|
|
NM_058216.3(RAD51C):c.3G>T (p.Met1Ile)
|
rs769053886
|
|
|
NM_058216.3(RAD51C):c.401T>C (p.Leu134Ser)
|
rs1233795152
|
|
|
NM_058216.3(RAD51C):c.403T>C (p.Cys135Arg)
|
rs878855178
|
|
|
NM_058216.3(RAD51C):c.404+3A>G
|
rs1060502598
|
|
|
NM_058216.3(RAD51C):c.404+6A>G
|
rs2047961180
|
|
|
NM_058216.3(RAD51C):c.404+6_404+10del
|
rs757693213
|
|
|
NM_058216.3(RAD51C):c.404+8A>G
|
|
|
|
NM_058216.3(RAD51C):c.405-3C>G
|
rs770815835
|
|
|
NM_058216.3(RAD51C):c.405-3C>T
|
rs770815835
|
|
|
NM_058216.3(RAD51C):c.405-6T>A
|
rs1064793245
|
|
|
NM_058216.3(RAD51C):c.405T>G (p.Cys135Trp)
|
|
|
|
NM_058216.3(RAD51C):c.406A>G (p.Met136Val)
|
|
|
|
NM_058216.3(RAD51C):c.407T>G (p.Met136Arg)
|
rs2048021034
|
|
|
NM_058216.3(RAD51C):c.408G>T (p.Met136Ile)
|
rs587780836
|
|
|
NM_058216.3(RAD51C):c.410A>T (p.Gln137Leu)
|
rs1555594548
|
|
|
NM_058216.3(RAD51C):c.411G>T (p.Gln137His)
|
rs1555594552
|
|
|
NM_058216.3(RAD51C):c.415G>A (p.Ala139Thr)
|
rs2048021584
|
|
|
NM_058216.3(RAD51C):c.415G>C (p.Ala139Pro)
|
rs2048021584
|
|
|
NM_058216.3(RAD51C):c.416C>T (p.Ala139Val)
|
rs1567788274
|
|
|
NM_058216.3(RAD51C):c.418G>A (p.Val140Ile)
|
rs730881938
|
|
|
NM_058216.3(RAD51C):c.419T>A (p.Val140Glu)
|
rs767247010
|
|
|
NM_058216.3(RAD51C):c.421G>A (p.Asp141Asn)
|
rs587780837
|
|
|
NM_058216.3(RAD51C):c.422A>G (p.Asp141Gly)
|
rs376494695
|
|
|
NM_058216.3(RAD51C):c.423T>G (p.Asp141Glu)
|
rs2048022400
|
|
|
NM_058216.3(RAD51C):c.425T>C (p.Val142Ala)
|
rs2143744027
|
|
|
NM_058216.3(RAD51C):c.430A>T (p.Ile144Leu)
|
rs1271229750
|
|
|
NM_058216.3(RAD51C):c.433C>A (p.Pro145Thr)
|
rs1555594594
|
|
|
NM_058216.3(RAD51C):c.433C>T (p.Pro145Ser)
|
rs1555594594
|
|
|
NM_058216.3(RAD51C):c.439T>C (p.Cys147Arg)
|
rs2048023614
|
|
|
NM_058216.3(RAD51C):c.440G>A (p.Cys147Tyr)
|
rs764177838
|
|
|
NM_058216.3(RAD51C):c.443T>C (p.Phe148Ser)
|
rs864622580
|
|
|
NM_058216.3(RAD51C):c.446G>A (p.Gly149Glu)
|
rs1555594622
|
|
|
NM_058216.3(RAD51C):c.446GAG[1] (p.Gly150del)
|
rs2048024043
|
|
|
NM_058216.3(RAD51C):c.448G>A (p.Gly150Arg)
|
rs553112850
|
|
|
NM_058216.3(RAD51C):c.44T>C (p.Val15Ala)
|
rs1060502593
|
|
|
NM_058216.3(RAD51C):c.44T>G (p.Val15Gly)
|
rs1060502593
|
|
|
NM_058216.3(RAD51C):c.454G>A (p.Ala152Thr)
|
rs1555594643
|
|
|
NM_058216.3(RAD51C):c.454G>T (p.Ala152Ser)
|
rs1555594643
|
|
|
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly)
|
rs758847241
|
|
|
NM_058216.3(RAD51C):c.463G>A (p.Ala155Thr)
|
rs755879664
|
|
|
NM_058216.3(RAD51C):c.464C>G (p.Ala155Gly)
|
rs777452778
|
|
|
NM_058216.3(RAD51C):c.467T>A (p.Val156Asp)
|
rs1435180142
|
|
|
NM_058216.3(RAD51C):c.46A>T (p.Ser16Cys)
|
|
|
|
NM_058216.3(RAD51C):c.470T>G (p.Phe157Cys)
|
rs1555594699
|
|
|
NM_058216.3(RAD51C):c.473T>C (p.Ile158Thr)
|
rs1394901462
|
|
|
NM_058216.3(RAD51C):c.476A>C (p.Asp159Ala)
|
rs1555594714
|
|
|
NM_058216.3(RAD51C):c.476A>T (p.Asp159Val)
|
|
|
|
NM_058216.3(RAD51C):c.477T>G (p.Asp159Glu)
|
rs760436864
|
|
|
NM_058216.3(RAD51C):c.47G>A (p.Ser16Asn)
|
rs1555591843
|
|
|
NM_058216.3(RAD51C):c.482A>T (p.Glu161Val)
|
rs1555594725
|
|
|
NM_058216.3(RAD51C):c.483G>T (p.Glu161Asp)
|
rs1188093917
|
|
|
NM_058216.3(RAD51C):c.484G>A (p.Gly162Arg)
|
|
|
|
NM_058216.3(RAD51C):c.485G>A (p.Gly162Glu)
|
rs35151472
|
|
|
NM_058216.3(RAD51C):c.488G>A (p.Ser163Asn)
|
rs1235906176
|
|
|
NM_058216.3(RAD51C):c.489T>A (p.Ser163Arg)
|
rs876659719
|
|
|
NM_058216.3(RAD51C):c.48T>C (p.Ser16=)
|
|
|
|
NM_058216.3(RAD51C):c.490T>G (p.Phe164Val)
|
rs1555594754
|
|
|
NM_058216.3(RAD51C):c.491T>C (p.Phe164Ser)
|
rs1060502589
|
|
|
NM_058216.3(RAD51C):c.493A>G (p.Met165Val)
|
rs1555594766
|
|
|
NM_058216.3(RAD51C):c.494T>C (p.Met165Thr)
|
rs1598460523
|
|
|
NM_058216.3(RAD51C):c.495G>A (p.Met165Ile)
|
rs1567788704
|
|
|
NM_058216.3(RAD51C):c.499G>C (p.Asp167His)
|
rs1555594778
|
|
|
NM_058216.3(RAD51C):c.499_501del (p.Asp167del)
|
rs2143747370
|
|
|
NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly)
|
rs758029117
|
|
|
NM_058216.3(RAD51C):c.500A>G (p.Asp167Gly)
|
rs1598460593
|
|
|
NM_058216.3(RAD51C):c.502A>G (p.Arg168Gly)
|
rs587781490
|
|
|
NM_058216.3(RAD51C):c.503G>A (p.Arg168Lys)
|
|
|
|
NM_058216.3(RAD51C):c.505G>A (p.Val169Met)
|
|
|
|
NM_058216.3(RAD51C):c.508G>A (p.Val170Ile)
|
rs2048030325
|
|
|
NM_058216.3(RAD51C):c.50T>C (p.Phe17Ser)
|
rs1411454855
|
|
|
NM_058216.3(RAD51C):c.50T>G (p.Phe17Cys)
|
rs1411454855
|
|
|
NM_058216.3(RAD51C):c.511G>A (p.Asp171Asn)
|
rs2143747843
|
|
|
NM_058216.3(RAD51C):c.513C>A (p.Asp171Glu)
|
rs140279158
|
|
|
NM_058216.3(RAD51C):c.514C>T (p.Leu172Phe)
|
rs876660732
|
|
|
NM_058216.3(RAD51C):c.515T>G (p.Leu172Arg)
|
|
|
|
NM_058216.3(RAD51C):c.51C>A (p.Phe17Leu)
|
rs1598448876
|
|
|
NM_058216.3(RAD51C):c.520A>G (p.Thr174Ala)
|
rs864622278
|
|
|
NM_058216.3(RAD51C):c.521C>T (p.Thr174Ile)
|
rs2048031047
|
|
|
NM_058216.3(RAD51C):c.523G>T (p.Ala175Ser)
|
rs587780838
|
|
|
NM_058216.3(RAD51C):c.526T>C (p.Cys176Arg)
|
rs2048031436
|
|
|
NM_058216.3(RAD51C):c.529A>G (p.Ile177Val)
|
rs786201828
|
|
|
NM_058216.3(RAD51C):c.532C>A (p.Gln178Lys)
|
rs1555594861
|
|
|
NM_058216.3(RAD51C):c.533A>G (p.Gln178Arg)
|
rs1598460753
|
|
|
NM_058216.3(RAD51C):c.534G>T (p.Gln178His)
|
rs1567788846
|
|
|
NM_058216.3(RAD51C):c.535C>A (p.His179Asn)
|
|
|
|
NM_058216.3(RAD51C):c.539T>G (p.Leu180Arg)
|
rs1555594869
|
|
|
NM_058216.3(RAD51C):c.53C>A (p.Pro18Gln)
|
rs754498936
|
|
|
NM_058216.3(RAD51C):c.53C>G (p.Pro18Arg)
|
rs754498936
|
|
|
NM_058216.3(RAD51C):c.542A>G (p.Gln181Arg)
|
rs1064796060
|
|
|
NM_058216.3(RAD51C):c.543G>C (p.Gln181His)
|
|
|
|
NM_058216.3(RAD51C):c.554A>G (p.Glu185Gly)
|
rs2143749539
|
|
|
NM_058216.3(RAD51C):c.556A>G (p.Lys186Glu)
|
rs1363104728
|
|
|
NM_058216.3(RAD51C):c.556_558dup (p.Lys186dup)
|
rs776534031
|
|
|
NM_058216.3(RAD51C):c.559C>G (p.His187Asp)
|
|
|
|
NM_058216.3(RAD51C):c.560A>G (p.His187Arg)
|
|
|
|
NM_058216.3(RAD51C):c.561C>A (p.His187Gln)
|
rs2048033583
|
|
|
NM_058216.3(RAD51C):c.561C>G (p.His187Gln)
|
|
|
|
NM_058216.3(RAD51C):c.562A>G (p.Lys188Glu)
|
|
|
|
NM_058216.3(RAD51C):c.564G>T (p.Lys188Asn)
|
rs876658264
|
|
|
NM_058216.3(RAD51C):c.565G>A (p.Gly189Arg)
|
rs1330937621
|
|
|
NM_058216.3(RAD51C):c.566G>A (p.Gly189Glu)
|
rs1240012999
|
|
|
NM_058216.3(RAD51C):c.568G>A (p.Glu190Lys)
|
rs779932777
|
|
|
NM_058216.3(RAD51C):c.56T>A (p.Leu19Gln)
|
|
|
|
NM_058216.3(RAD51C):c.56T>C (p.Leu19Pro)
|
rs1598448973
|
|
|
NM_058216.3(RAD51C):c.570G>C (p.Glu190Asp)
|
|
|
|
NM_058216.3(RAD51C):c.571+3_571+6del
|
|
|
|
NM_058216.3(RAD51C):c.571+6T>G
|
rs1598461030
|
|
|
NM_058216.3(RAD51C):c.571+7T>A
|
|
|
|
NM_058216.3(RAD51C):c.572-3C>G
|
rs1567794089
|
|
|
NM_058216.3(RAD51C):c.572-3C>T
|
rs1567794089
|
|
|
NM_058216.3(RAD51C):c.572-5T>C
|
|
|
|
NM_058216.3(RAD51C):c.576C>A (p.His192Gln)
|
rs2143796505
|
|
|
NM_058216.3(RAD51C):c.576C>G (p.His192Gln)
|
|
|
|
NM_058216.3(RAD51C):c.577C>G (p.Arg193Gly)
|
|
|
|
NM_058216.3(RAD51C):c.583G>A (p.Ala195Thr)
|
rs1060502600
|
|
|
NM_058216.3(RAD51C):c.589G>A (p.Glu197Lys)
|
rs1555597094
|
|
|
NM_058216.3(RAD51C):c.592G>T (p.Asp198Tyr)
|
rs2143797075
|
|
|
NM_058216.3(RAD51C):c.593A>G (p.Asp198Gly)
|
rs2048269455
|
|
|
NM_058216.3(RAD51C):c.598A>G (p.Thr200Ala)
|
rs1369125082
|
|
|
NM_058216.3(RAD51C):c.59C>A (p.Ser20Tyr)
|
rs786203944
|
|
|
NM_058216.3(RAD51C):c.59C>G (p.Ser20Cys)
|
rs786203944
|
|
|
NM_058216.3(RAD51C):c.59C>T (p.Ser20Phe)
|
rs786203944
|
|
|
NM_058216.3(RAD51C):c.5G>A (p.Arg2His)
|
rs2047797645
|
|
|
NM_058216.3(RAD51C):c.601C>T (p.Leu201Phe)
|
|
|
|
NM_058216.3(RAD51C):c.602T>C (p.Leu201Pro)
|
rs587780839
|
|
|
NM_058216.3(RAD51C):c.602T>G (p.Leu201Arg)
|
|
|
|
NM_058216.3(RAD51C):c.605A>G (p.Asp202Gly)
|
rs1060502591
|
|
|
NM_058216.3(RAD51C):c.606T>A (p.Asp202Glu)
|
rs2048270218
|
|
|
NM_058216.3(RAD51C):c.608A>G (p.Asn203Ser)
|
|
|
|
NM_058216.3(RAD51C):c.610A>G (p.Ile204Val)
|
rs1598473225
|
|
|
NM_058216.3(RAD51C):c.617C>A (p.Ser206Tyr)
|
|
|
|
NM_058216.3(RAD51C):c.61C>A (p.Pro21Thr)
|
|
|
|
NM_058216.3(RAD51C):c.61C>G (p.Pro21Ala)
|
rs752608224
|
|
|
NM_058216.3(RAD51C):c.61C>T (p.Pro21Ser)
|
rs752608224
|
|
|
NM_058216.3(RAD51C):c.620A>T (p.His207Leu)
|
|
|
|
NM_058216.3(RAD51C):c.622A>T (p.Ile208Phe)
|
|
|
|
NM_058216.3(RAD51C):c.623T>G (p.Ile208Ser)
|
rs1598473279
|
|
|
NM_058216.3(RAD51C):c.624T>G (p.Ile208Met)
|
rs775006411
|
|
|
NM_058216.3(RAD51C):c.625T>G (p.Tyr209Asp)
|
rs2143798413
|
|
|
NM_058216.3(RAD51C):c.626A>T (p.Tyr209Phe)
|
rs1017384420
|
|
|
NM_058216.3(RAD51C):c.629A>G (p.Tyr210Cys)
|
rs1598473310
|
|
|
NM_058216.3(RAD51C):c.631T>C (p.Phe211Leu)
|
rs2048271607
|
|
|
NM_058216.3(RAD51C):c.634C>A (p.Arg212Ser)
|
rs137947462
|
|
|
NM_058216.3(RAD51C):c.634C>G (p.Arg212Gly)
|
rs137947462
|
|
|
NM_058216.3(RAD51C):c.635G>T (p.Arg212Leu)
|
rs200857129
|
|
|
NM_058216.3(RAD51C):c.637T>C (p.Cys213Arg)
|
|
|
|
NM_058216.3(RAD51C):c.638G>C (p.Cys213Ser)
|
rs2143798852
|
|
|
NM_058216.3(RAD51C):c.645C>G (p.Asp215Glu)
|
rs2143799278
|
|
|
NM_058216.3(RAD51C):c.647A>G (p.Tyr216Cys)
|
rs746755735
|
|
|
NM_058216.3(RAD51C):c.649A>C (p.Thr217Pro)
|
|
|
|
NM_058216.3(RAD51C):c.649A>G (p.Thr217Ala)
|
rs1555597189
|
|
|
NM_058216.3(RAD51C):c.649A>T (p.Thr217Ser)
|
rs1555597189
|
|
|
NM_058216.3(RAD51C):c.658C>G (p.Leu220Val)
|
|
|
|
NM_058216.3(RAD51C):c.659T>C (p.Leu220Pro)
|
|
|
|
NM_058216.3(RAD51C):c.65C>G (p.Ala22Gly)
|
|
|
|
NM_058216.3(RAD51C):c.667G>A (p.Val223Ile)
|
rs876660177
|
|
|
NM_058216.3(RAD51C):c.670_705+64dup
|
rs1555597210
|
|
|
NM_058216.3(RAD51C):c.671A>G (p.Tyr224Cys)
|
rs730881924
|
|
|
NM_058216.3(RAD51C):c.672_705+65dup
|
rs1555597214
|
|
|
NM_058216.3(RAD51C):c.674T>C (p.Leu225Pro)
|
rs1032681872
|
|
|
NM_058216.3(RAD51C):c.674TTC[1] (p.Leu226del)
|
rs1555597217
|
|
|
NM_058216.3(RAD51C):c.677T>C (p.Leu226Pro)
|
rs1225858240
|
|
|
NM_058216.3(RAD51C):c.679C>T (p.Pro227Ser)
|
rs958242201
|
|
|
NM_058216.3(RAD51C):c.67G>A (p.Val23Met)
|
rs1386696811
|
|
|
NM_058216.3(RAD51C):c.67G>C (p.Val23Leu)
|
rs1386696811
|
|
|
NM_058216.3(RAD51C):c.683A>G (p.Asp228Gly)
|
rs2048274960
|
|
|
NM_058216.3(RAD51C):c.683A>T (p.Asp228Val)
|
rs2048274960
|
|
|
NM_058216.3(RAD51C):c.685T>A (p.Phe229Ile)
|
|
|
|
NM_058216.3(RAD51C):c.688C>T (p.Leu230Phe)
|
rs751528808
|
|
|
NM_058216.3(RAD51C):c.68T>C (p.Val23Ala)
|
|
|
|
NM_058216.3(RAD51C):c.692C>T (p.Ser231Leu)
|
rs1060502588
|
|
|
NM_058216.3(RAD51C):c.694G>A (p.Glu232Lys)
|
rs2143801948
|
|
|
NM_058216.3(RAD51C):c.696A>T (p.Glu232Asp)
|
rs786201177
|
|
|
NM_058216.3(RAD51C):c.697C>T (p.His233Tyr)
|
rs2143802148
|
|
|
NM_058216.3(RAD51C):c.698A>C (p.His233Pro)
|
|
|
|
NM_058216.3(RAD51C):c.698A>G (p.His233Arg)
|
rs754895072
|
|
|
NM_058216.3(RAD51C):c.703A>G (p.Lys235Glu)
|
rs1555597252
|
|
|
NM_058216.3(RAD51C):c.705+3A>G
|
rs878855179
|
|
|
NM_058216.3(RAD51C):c.705+3A>T
|
rs878855179
|
|
|
NM_058216.3(RAD51C):c.705+4T>G
|
rs778157321
|
|
|
NM_058216.3(RAD51C):c.705+6A>C
|
|
|
|
NM_058216.3(RAD51C):c.706-9T>A
|
rs1060504671
|
|
|
NM_058216.3(RAD51C):c.706-9T>G
|
rs1060504671
|
|
|
NM_058216.3(RAD51C):c.706G>T (p.Val236Phe)
|
rs2143849926
|
|
|
NM_058216.3(RAD51C):c.707T>A (p.Val236Asp)
|
rs1555599091
|
|
|
NM_058216.3(RAD51C):c.70C>G (p.Arg24Gly)
|
rs878855180
|
|
|
NM_058216.3(RAD51C):c.70C>T (p.Arg24Trp)
|
rs878855180
|
|
|
NM_058216.3(RAD51C):c.710G>C (p.Arg237Pro)
|
rs370393672
|
|
|
NM_058216.3(RAD51C):c.710G>T (p.Arg237Leu)
|
|
|
|
NM_058216.3(RAD51C):c.713T>C (p.Leu238Pro)
|
rs1060502606
|
|
|
NM_058216.3(RAD51C):c.713T>G (p.Leu238Arg)
|
rs1060502606
|
|
|
NM_058216.3(RAD51C):c.715G>C (p.Val239Leu)
|
rs1064795326
|
|
|
NM_058216.3(RAD51C):c.715G>T (p.Val239Leu)
|
rs1064795326
|
|
|
NM_058216.3(RAD51C):c.716T>A (p.Val239Glu)
|
rs1064795220
|
|
|
NM_058216.3(RAD51C):c.718A>G (p.Ile240Val)
|
rs863224806
|
|
|
NM_058216.3(RAD51C):c.718A>T (p.Ile240Leu)
|
rs863224806
|
|
|
NM_058216.3(RAD51C):c.71G>A (p.Arg24Gln)
|
rs777554369
|
|
|
NM_058216.3(RAD51C):c.71G>T (p.Arg24Leu)
|
rs777554369
|
|
|
NM_058216.3(RAD51C):c.71_85dup (p.Val28_Ser29insTrpValLysLeuVal)
|
rs1598449114
|
|
|
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn)
|
rs876659188
|
|
|
NM_058216.3(RAD51C):c.725A>G (p.Asp242Gly)
|
rs2048494505
|
|
|
NM_058216.3(RAD51C):c.725A>T (p.Asp242Val)
|
rs2048494505
|
|
|
NM_058216.3(RAD51C):c.727G>A (p.Gly243Ser)
|
rs2048494596
|
|
|
NM_058216.3(RAD51C):c.728G>A (p.Gly243Asp)
|
|
|
|
NM_058216.3(RAD51C):c.728G>C (p.Gly243Ala)
|
|
|
|
NM_058216.3(RAD51C):c.730A>T (p.Ile244Phe)
|
rs199886026
|
|
|
NM_058216.3(RAD51C):c.732T>G (p.Ile244Met)
|
rs2048495083
|
|
|
NM_058216.3(RAD51C):c.734C>T (p.Ala245Val)
|
rs1555599151
|
|
|
NM_058216.3(RAD51C):c.73G>C (p.Val25Leu)
|
rs757116652
|
|
|
NM_058216.3(RAD51C):c.73G>T (p.Val25Leu)
|
rs757116652
|
|
|
NM_058216.3(RAD51C):c.742T>C (p.Phe248Leu)
|
rs876659496
|
|
|
NM_058216.3(RAD51C):c.744T>G (p.Phe248Leu)
|
|
|
|
NM_058216.3(RAD51C):c.745C>G (p.Arg249Gly)
|
rs28363311
|
|
|
NM_058216.3(RAD51C):c.745C>T (p.Arg249Cys)
|
rs28363311
|
|
|
NM_058216.3(RAD51C):c.748C>G (p.His250Asp)
|
rs531540031
|
|
|
NM_058216.3(RAD51C):c.749A>G (p.His250Arg)
|
rs1060502597
|
|
|
NM_058216.3(RAD51C):c.74T>C (p.Val25Ala)
|
rs2047809263
|
|
|
NM_058216.3(RAD51C):c.752A>G (p.Asp251Gly)
|
rs2048496443
|
|
|
NM_058216.3(RAD51C):c.755T>A (p.Leu252Gln)
|
rs2048496750
|
|
|
NM_058216.3(RAD51C):c.757G>C (p.Asp253His)
|
|
|
|
NM_058216.3(RAD51C):c.764T>C (p.Leu255Pro)
|
rs1567799667
|
|
|
NM_058216.3(RAD51C):c.767C>G (p.Ser256Cys)
|
rs2143852373
|
|
|
NM_058216.3(RAD51C):c.773G>C (p.Arg258Pro)
|
rs267606997
|
|
|
NM_058216.3(RAD51C):c.773G>T (p.Arg258Leu)
|
rs267606997
|
|
|
NM_058216.3(RAD51C):c.775A>G (p.Thr259Ala)
|
rs779954908
|
|
|
NM_058216.3(RAD51C):c.775A>T (p.Thr259Ser)
|
rs779954908
|
|
|
NM_058216.3(RAD51C):c.779G>C (p.Arg260Pro)
|
rs730881926
|
|
|
NM_058216.3(RAD51C):c.788A>G (p.Asn263Ser)
|
rs935771120
|
|
|
NM_058216.3(RAD51C):c.791G>T (p.Gly264Val)
|
rs1283065191
|
|
|
NM_058216.3(RAD51C):c.793C>A (p.Leu265Ile)
|
rs759072716
|
|
|
NM_058216.3(RAD51C):c.797C>A (p.Ala266Asp)
|
rs1555599239
|
|
|
NM_058216.3(RAD51C):c.797C>T (p.Ala266Val)
|
rs1555599239
|
|
|
NM_058216.3(RAD51C):c.7G>C (p.Gly3Arg)
|
rs376403182
|
|
|
NM_058216.3(RAD51C):c.7G>T (p.Gly3Trp)
|
rs376403182
|
|
|
NM_058216.3(RAD51C):c.801G>C (p.Gln267His)
|
rs2048499866
|
|
|
NM_058216.3(RAD51C):c.802C>A (p.Gln268Lys)
|
rs1567799818
|
|
|
NM_058216.3(RAD51C):c.803A>G (p.Gln268Arg)
|
rs1064794654
|
|
|
NM_058216.3(RAD51C):c.805A>G (p.Met269Val)
|
rs878855181
|
|
|
NM_058216.3(RAD51C):c.805A>T (p.Met269Leu)
|
rs878855181
|
|
|
NM_058216.3(RAD51C):c.808A>G (p.Ile270Val)
|
rs1555599250
|
|
|
NM_058216.3(RAD51C):c.80T>C (p.Leu27Pro)
|
rs587781309
|
|
|
NM_058216.3(RAD51C):c.810C>G (p.Ile270Met)
|
rs1555599252
|
|
|
NM_058216.3(RAD51C):c.811A>G (p.Ser271Gly)
|
rs1555599256
|
|
|
NM_058216.3(RAD51C):c.812G>A (p.Ser271Asn)
|
rs1060502596
|
|
|
NM_058216.3(RAD51C):c.814C>T (p.Leu272Phe)
|
|
|
|
NM_058216.3(RAD51C):c.817G>C (p.Ala273Pro)
|
rs1598484818
|
|
|
NM_058216.3(RAD51C):c.818C>T (p.Ala273Val)
|
rs1555599262
|
|
|
NM_058216.3(RAD51C):c.820A>G (p.Asn274Asp)
|
|
|
|
NM_058216.3(RAD51C):c.821A>G (p.Asn274Ser)
|
rs1598484851
|
|
|
NM_058216.3(RAD51C):c.826C>A (p.His276Asn)
|
rs1567799906
|
|
|
NM_058216.3(RAD51C):c.826C>T (p.His276Tyr)
|
rs1567799906
|
|
|
NM_058216.3(RAD51C):c.827A>C (p.His276Pro)
|
rs1567799913
|
|
|
NM_058216.3(RAD51C):c.82G>A (p.Val28Met)
|
rs1060502587
|
|
|
NM_058216.3(RAD51C):c.82G>C (p.Val28Leu)
|
rs1060502587
|
|
|
NM_058216.3(RAD51C):c.830G>C (p.Arg277Thr)
|
|
|
|
NM_058216.3(RAD51C):c.831A>G (p.Arg277=)
|
|
|
|
NM_058216.3(RAD51C):c.831A>T (p.Arg277Ser)
|
|
|
|
NM_058216.3(RAD51C):c.833T>C (p.Leu278Ser)
|
rs1555599274
|
|
|
NM_058216.3(RAD51C):c.835G>A (p.Ala279Thr)
|
|
|
|
NM_058216.3(RAD51C):c.835G>C (p.Ala279Pro)
|
rs587782507
|
|
|
NM_058216.3(RAD51C):c.836C>G (p.Ala279Gly)
|
rs2048502472
|
|
|
NM_058216.3(RAD51C):c.837+2dup
|
rs2048502931
|
|
|
NM_058216.3(RAD51C):c.837+4A>G
|
|
|
|
NM_058216.3(RAD51C):c.837+4del
|
rs1598484905
|
|
|
NM_058216.3(RAD51C):c.837+5G>C
|
rs1567799952
|
|
|
NM_058216.3(RAD51C):c.837T>C (p.Ala279=)
|
|
|
|
NM_058216.3(RAD51C):c.838G>A (p.Val280Ile)
|
rs876660718
|
|
|
NM_058216.3(RAD51C):c.841A>G (p.Ile281Val)
|
rs1439877158
|
|
|
NM_058216.3(RAD51C):c.850A>G (p.Asn284Asp)
|
rs1555602090
|
|
|
NM_058216.3(RAD51C):c.851A>G (p.Asn284Ser)
|
rs1555602095
|
|
|
NM_058216.3(RAD51C):c.852T>G (p.Asn284Lys)
|
rs2143930037
|
|
|
NM_058216.3(RAD51C):c.854A>G (p.Gln285Arg)
|
rs876660018
|
|
|
NM_058216.3(RAD51C):c.855G>C (p.Gln285His)
|
rs876660369
|
|
|
NM_058216.3(RAD51C):c.855G>T (p.Gln285His)
|
rs876660369
|
|
|
NM_058216.3(RAD51C):c.856A>G (p.Met286Val)
|
rs1567808196
|
|
|
NM_058216.3(RAD51C):c.858G>C (p.Met286Ile)
|
rs2048890830
|
|
|
NM_058216.3(RAD51C):c.859A>C (p.Thr287Pro)
|
rs28363317
|
|
|
NM_058216.3(RAD51C):c.862A>G (p.Thr288Ala)
|
rs587781574
|
|
|
NM_058216.3(RAD51C):c.863C>G (p.Thr288Arg)
|
rs2143930483
|
|
|
NM_058216.3(RAD51C):c.865A>G (p.Lys289Glu)
|
|
|
|
NM_058216.3(RAD51C):c.866A>G (p.Lys289Arg)
|
rs1390237532
|
|
|
NM_058216.3(RAD51C):c.868A>T (p.Ile290Phe)
|
rs2048891385
|
|
|
NM_058216.3(RAD51C):c.86C>T (p.Ser29Phe)
|
rs876659683
|
|
|
NM_058216.3(RAD51C):c.870T>G (p.Ile290Met)
|
rs376402418
|
|
|
NM_058216.3(RAD51C):c.872A>T (p.Asp291Val)
|
rs1555602124
|
|
|
NM_058216.3(RAD51C):c.873T>G (p.Asp291Glu)
|
rs1288802398
|
|
|
NM_058216.3(RAD51C):c.874A>G (p.Arg292Gly)
|
rs775208053
|
|
|
NM_058216.3(RAD51C):c.875G>A (p.Arg292Lys)
|
|
|
|
NM_058216.3(RAD51C):c.876A>C (p.Arg292Ser)
|
|
|
|
NM_058216.3(RAD51C):c.877A>C (p.Asn293His)
|
rs1567808290
|
|
|
NM_058216.3(RAD51C):c.878A>G (p.Asn293Ser)
|
rs1246031520
|
|
|
NM_058216.3(RAD51C):c.883G>T (p.Ala295Ser)
|
rs746571208
|
|
|
NM_058216.3(RAD51C):c.884C>A (p.Ala295Asp)
|
|
|
|
NM_058216.3(RAD51C):c.884C>G (p.Ala295Gly)
|
rs1555602136
|
|
|
NM_058216.3(RAD51C):c.884C>T (p.Ala295Val)
|
rs1555602136
|
|
|
NM_058216.3(RAD51C):c.886T>G (p.Leu296Val)
|
|
|
|
NM_058216.3(RAD51C):c.88G>C (p.Ala30Pro)
|
rs1331134740
|
|
|
NM_058216.3(RAD51C):c.88G>T (p.Ala30Ser)
|
rs1331134740
|
|
|
NM_058216.3(RAD51C):c.890T>G (p.Leu297Arg)
|
rs143026267
|
|
|
NM_058216.3(RAD51C):c.892G>A (p.Val298Ile)
|
|
|
|
NM_058216.3(RAD51C):c.896C>T (p.Pro299Leu)
|
rs878855182
|
|
|
NM_058216.3(RAD51C):c.898G>T (p.Ala300Ser)
|
rs2048893581
|
|
|
NM_058216.3(RAD51C):c.899C>A (p.Ala300Glu)
|
rs1444333199
|
|
|
NM_058216.3(RAD51C):c.89C>T (p.Ala30Val)
|
rs1000113630
|
|
|
NM_058216.3(RAD51C):c.8G>A (p.Gly3Glu)
|
rs1555591761
|
|
|
NM_058216.3(RAD51C):c.8G>C (p.Gly3Ala)
|
rs1555591761
|
|
|
NM_058216.3(RAD51C):c.903A>C (p.Leu301Phe)
|
rs761799817
|
|
|
NM_058216.3(RAD51C):c.904+3G>A
|
|
|
|
NM_058216.3(RAD51C):c.904+3G>T
|
rs1290236617
|
|
|
NM_058216.3(RAD51C):c.904+4G>A
|
|
|
|
NM_058216.3(RAD51C):c.904+4G>T
|
rs2048894318
|
|
|
NM_058216.3(RAD51C):c.904+6T>C
|
rs1555602163
|
|
|
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg)
|
rs1555602158
|
|
|
NM_058216.3(RAD51C):c.905-3C>T
|
rs2143961087
|
|
|
NM_058216.3(RAD51C):c.905-5C>G
|
rs371968149
|
|
|
NM_058216.3(RAD51C):c.905G>T (p.Gly302Val)
|
rs786203304
|
|
|
NM_058216.3(RAD51C):c.909A>T (p.Glu303Asp)
|
rs2049020875
|
|
|
NM_058216.3(RAD51C):c.910A>G (p.Ser304Gly)
|
rs2143961390
|
|
|
NM_058216.3(RAD51C):c.911G>T (p.Ser304Ile)
|
rs1598510989
|
|
|
NM_058216.3(RAD51C):c.912T>G (p.Ser304Arg)
|
rs876659009
|
|
|
NM_058216.3(RAD51C):c.913T>C (p.Trp305Arg)
|
|
|
|
NM_058216.3(RAD51C):c.916G>A (p.Gly306Arg)
|
rs587782733
|
|
|
NM_058216.3(RAD51C):c.920A>G (p.His307Arg)
|
rs2049021589
|
|
|
NM_058216.3(RAD51C):c.921T>A (p.His307Gln)
|
rs2143961779
|
|
|
NM_058216.3(RAD51C):c.922G>A (p.Ala308Thr)
|
|
|
|
NM_058216.3(RAD51C):c.926C>T (p.Ala309Val)
|
|
|
|
NM_058216.3(RAD51C):c.929C>T (p.Thr310Ile)
|
rs2049022193
|
|
|
NM_058216.3(RAD51C):c.92G>C (p.Gly31Ala)
|
|
|
|
NM_058216.3(RAD51C):c.932T>A (p.Ile311Lys)
|
rs786203766
|
|
|
NM_058216.3(RAD51C):c.932T>C (p.Ile311Thr)
|
rs786203766
|
|
|
NM_058216.3(RAD51C):c.941T>C (p.Ile314Thr)
|
rs2143962436
|
|
|
NM_058216.3(RAD51C):c.952G>A (p.Asp318Asn)
|
rs876659875
|
|
|
NM_058216.3(RAD51C):c.952G>C (p.Asp318His)
|
rs876659875
|
|
|
NM_058216.3(RAD51C):c.955C>A (p.Arg319=)
|
rs587781287
|
|
|
NM_058216.3(RAD51C):c.955C>G (p.Arg319Gly)
|
rs587781287
|
|
|
NM_058216.3(RAD51C):c.958A>G (p.Lys320Glu)
|
rs1567810482
|
|
|
NM_058216.3(RAD51C):c.959A>G (p.Lys320Arg)
|
rs587780260
|
|
|
NM_058216.3(RAD51C):c.960G>C (p.Lys320Asn)
|
rs864622395
|
|
|
NM_058216.3(RAD51C):c.962A>G (p.Gln321Arg)
|
rs1555603052
|
|
|
NM_058216.3(RAD51C):c.964A>C (p.Arg322=)
|
rs864622343
|
|
|
NM_058216.3(RAD51C):c.965+21A>G
|
rs752811386
|
|
|
NM_058216.3(RAD51C):c.965+3C>G
|
|
|
|
NM_058216.3(RAD51C):c.965+867A>G
|
|
|
|
NM_058216.3(RAD51C):c.965G>A (p.Arg322Lys)
|
rs1555603059
|
|
|
NM_058216.3(RAD51C):c.965G>C (p.Arg322Thr)
|
rs1555603059
|
|
|
NM_058216.3(RAD51C):c.966-1G>A
|
rs876658272
|
|
|
NM_058216.3(RAD51C):c.966-1G>T
|
rs876658272
|
|
|
NM_058216.3(RAD51C):c.966-2A>G
|
rs1436204606
|
|
|
NM_058216.3(RAD51C):c.966-3C>T
|
rs1064796091
|
|
|
NM_058216.3(RAD51C):c.966-6A>G
|
|
|
|
NM_058216.3(RAD51C):c.966G>A (p.Arg322=)
|
rs1567817289
|
|
|
NM_058216.3(RAD51C):c.966G>T (p.Arg322Ser)
|
rs1567817289
|
|
|
NM_058216.3(RAD51C):c.968T>G (p.Leu323Trp)
|
rs587782045
|
|
|
NM_058216.3(RAD51C):c.96C>G (p.Phe32Leu)
|
rs1228923241
|
|
|
NM_058216.3(RAD51C):c.971C>T (p.Ala324Val)
|
rs2144044470
|
|
|
NM_058216.3(RAD51C):c.973A>G (p.Thr325Ala)
|
rs1555605054
|
|
|
NM_058216.3(RAD51C):c.974C>T (p.Thr325Ile)
|
|
|
|
NM_058216.3(RAD51C):c.977T>C (p.Leu326Ser)
|
rs749208768
|
|
|
NM_058216.3(RAD51C):c.977T>G (p.Leu326Trp)
|
rs749208768
|
|
|
NM_058216.3(RAD51C):c.977_979del (p.Leu326del)
|
rs2144044664
|
|
|
NM_058216.3(RAD51C):c.978G>C (p.Leu326Phe)
|
rs770652503
|
|
|
NM_058216.3(RAD51C):c.984G>C (p.Lys328Asn)
|
|
|
|
NM_058216.3(RAD51C):c.986C>T (p.Ser329Leu)
|
rs1567817363
|
|
|
NM_058216.3(RAD51C):c.988C>T (p.Pro330Ser)
|
rs1555605068
|
|
|
NM_058216.3(RAD51C):c.989C>G (p.Pro330Arg)
|
rs1567817392
|
|
|
NM_058216.3(RAD51C):c.989C>T (p.Pro330Leu)
|
rs1567817392
|
|
|
NM_058216.3(RAD51C):c.992G>A (p.Ser331Asn)
|
rs786202681
|
|
|
NM_058216.3(RAD51C):c.992G>C (p.Ser331Thr)
|
|
|
|
NM_058216.3(RAD51C):c.992G>T (p.Ser331Ile)
|
rs786202681
|
|
|
NM_058216.3(RAD51C):c.993C>A (p.Ser331Arg)
|
rs2049471711
|
|
|
NM_058216.3(RAD51C):c.994C>A (p.Gln332Lys)
|
rs1555605074
|
|
|
NM_058216.3(RAD51C):c.999G>T (p.Lys333Asn)
|
rs2049471981
|
|
|
NM_058216.3(RAD51C):c.99G>C (p.Gln33His)
|
rs1598449381
|
|
|
NM_058216.3(RAD51C):c.99G>T (p.Gln33His)
|
rs1598449381
|
|
|
NM_130468.4(CHST14):c.1004G>T (p.Ser335Ile)
|
|
|
|
NM_130468.4(CHST14):c.1016A>G (p.His339Arg)
|
|
|
|
NM_130468.4(CHST14):c.1033C>T (p.Arg345Trp)
|
rs372422727
|
|
|
NM_130468.4(CHST14):c.1033del (p.Arg345fs)
|
|
|
|
NM_130468.4(CHST14):c.104G>C (p.Gly35Ala)
|
|
|
|
NM_130468.4(CHST14):c.1081C>G (p.Leu361Val)
|
rs1566969372
|
|
|
NM_130468.4(CHST14):c.1117G>T (p.Ala373Ser)
|
rs748434505
|
|
|
NM_130468.4(CHST14):c.130A>G (p.Met44Val)
|
rs1043447552
|
|
|
NM_130468.4(CHST14):c.148A>T (p.Ile50Phe)
|
rs1046833753
|
|
|
NM_130468.4(CHST14):c.151G>A (p.Val51Met)
|
rs199749498
|
|
|
NM_130468.4(CHST14):c.155C>T (p.Ala52Val)
|
|
|
|
NM_130468.4(CHST14):c.202A>G (p.Met68Val)
|
|
|
|
NM_130468.4(CHST14):c.245C>G (p.Ala82Gly)
|
rs1475453618
|
|
|
NM_130468.4(CHST14):c.275G>T (p.Gly92Val)
|
rs754720949
|
|
|
NM_130468.4(CHST14):c.295G>A (p.Asp99Asn)
|
rs1354036515
|
|
|
NM_130468.4(CHST14):c.299C>T (p.Ala100Val)
|
|
|
|
NM_130468.4(CHST14):c.2T>C (p.Met1Thr)
|
|
|
|
NM_130468.4(CHST14):c.382G>C (p.Asp128His)
|
|
|
|
NM_130468.4(CHST14):c.427G>A (p.Val143Ile)
|
|
|
|
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly)
|
rs1007569346
|
|
|
NM_130468.4(CHST14):c.43G>C (p.Ala15Pro)
|
rs1235160320
|
|
|
NM_130468.4(CHST14):c.448C>G (p.Leu150Val)
|
rs2141570771
|
|
|
NM_130468.4(CHST14):c.468G>C (p.Lys156Asn)
|
rs1555410748
|
|
|
NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser)
|
rs1894350607
|
|
|
NM_130468.4(CHST14):c.536G>A (p.Arg179His)
|
|
|
|
NM_130468.4(CHST14):c.536G>C (p.Arg179Pro)
|
rs756707600
|
|
|
NM_130468.4(CHST14):c.612G>T (p.Gln204His)
|
rs1894353008
|
|
|
NM_130468.4(CHST14):c.628C>G (p.Leu210Val)
|
rs1894353259
|
|
|
NM_130468.4(CHST14):c.629T>C (p.Leu210Pro)
|
|
|
|
NM_130468.4(CHST14):c.642G>C (p.Glu214Asp)
|
rs146662235
|
|
|
NM_130468.4(CHST14):c.65T>C (p.Leu22Pro)
|
|
|
|
NM_130468.4(CHST14):c.668A>T (p.Tyr223Phe)
|
rs1894354295
|
|
|
NM_130468.4(CHST14):c.686A>G (p.Glu229Gly)
|
rs1043019552
|
|
|
NM_130468.4(CHST14):c.692G>A (p.Arg231Gln)
|
rs751335857
|
|
|
NM_130468.4(CHST14):c.693A>T (p.Arg231=)
|
|
|
|
NM_130468.4(CHST14):c.704A>G (p.Gln235Arg)
|
rs532315121
|
|
|
NM_130468.4(CHST14):c.729G>T (p.Arg243Ser)
|
rs1894355892
|
|
|
NM_130468.4(CHST14):c.763G>C (p.Gly255Arg)
|
rs2141571079
|
|
|
NM_130468.4(CHST14):c.85A>G (p.Arg29Gly)
|
|
|
|
NM_130468.4(CHST14):c.935G>T (p.Trp312Leu)
|
|
|
|
NM_130468.4(CHST14):c.977C>T (p.Ala326Val)
|
rs1234827728
|
|
|
NM_133433.4(NIPBL):c.-315del
|
|
|
|
NM_133433.4(NIPBL):c.1001A>C (p.Asp334Ala)
|
|
|
|
NM_133433.4(NIPBL):c.1004A>G (p.Glu335Gly)
|
|
|
|
NM_133433.4(NIPBL):c.1032G>A (p.Met344Ile)
|
|
|
|
NM_133433.4(NIPBL):c.103A>G (p.Thr35Ala)
|
|
|
|
NM_133433.4(NIPBL):c.1058A>G (p.Lys353Arg)
|
rs1743395526
|
|
|
NM_133433.4(NIPBL):c.1136G>T (p.Gly379Val)
|
|
|
|
NM_133433.4(NIPBL):c.1169T>C (p.Ile390Thr)
|
|
|
|
NM_133433.4(NIPBL):c.1190C>T (p.Pro397Leu)
|
|
|
|
NM_133433.4(NIPBL):c.1202C>T (p.Ser401Leu)
|
|
|
|
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile)
|
rs746183321
|
|
|
NM_133433.4(NIPBL):c.1235G>A (p.Arg412His)
|
|
|
|
NM_133433.4(NIPBL):c.1247C>G (p.Ala416Gly)
|
rs894352601
|
|
|
NM_133433.4(NIPBL):c.1268A>G (p.Gln423Arg)
|
|
|
|
NM_133433.4(NIPBL):c.1349C>T (p.Thr450Ile)
|
|
|
|
NM_133433.4(NIPBL):c.134G>A (p.Arg45Gln)
|
|
|
|
NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln)
|
rs1017711925
|
|
|
NM_133433.4(NIPBL):c.1495G>A (p.Asp499Asn)
|
|
|
|
NM_133433.4(NIPBL):c.1560T>G (p.Gly520=)
|
|
|
|
NM_133433.4(NIPBL):c.1595G>T (p.Gly532Val)
|
|
|
|
NM_133433.4(NIPBL):c.1626C>T (p.Ser542=)
|
|
|
|
NM_133433.4(NIPBL):c.163G>A (p.Ala55Thr)
|
|
|
|
NM_133433.4(NIPBL):c.1643C>G (p.Ala548Gly)
|
rs2149643225
|
|
|
NM_133433.4(NIPBL):c.1669A>G (p.Ile557Val)
|
|
|
|
NM_133433.4(NIPBL):c.1678G>C (p.Asp560His)
|
|
|
|
NM_133433.4(NIPBL):c.1678G>T (p.Asp560Tyr)
|
|
|
|
NM_133433.4(NIPBL):c.169A>G (p.Arg57Gly)
|
|
|
|
NM_133433.4(NIPBL):c.1708A>G (p.Ile570Val)
|
|
|
|
NM_133433.4(NIPBL):c.1709T>C (p.Ile570Thr)
|
|
|
|
NM_133433.4(NIPBL):c.1745A>G (p.Gln582Arg)
|
|
|
|
NM_133433.4(NIPBL):c.1753_1755del (p.Ile585del)
|
|
|
|
NM_133433.4(NIPBL):c.1757T>A (p.Val586Asp)
|
|
|
|
NM_133433.4(NIPBL):c.1783A>T (p.Asn595Tyr)
|
|
|
|
NM_133433.4(NIPBL):c.1816C>T (p.Pro606Ser)
|
|
|
|
NM_133433.4(NIPBL):c.1835A>G (p.Glu612Gly)
|
|
|
|
NM_133433.4(NIPBL):c.1889TGG[1] (p.Val631del)
|
|
|
|
NM_133433.4(NIPBL):c.1927A>G (p.Lys643Glu)
|
|
|
|
NM_133433.4(NIPBL):c.193C>G (p.Leu65Val)
|
|
|
|
NM_133433.4(NIPBL):c.1949A>C (p.Glu650Ala)
|
rs2149644038
|
|
|
NM_133433.4(NIPBL):c.194T>C (p.Leu65Pro)
|
|
|
|
NM_133433.4(NIPBL):c.2075G>C (p.Arg692Thr)
|
|
|
|
NM_133433.4(NIPBL):c.2076A>T (p.Arg692Ser)
|
|
|
|
NM_133433.4(NIPBL):c.2087C>T (p.Thr696Ile)
|
|
|
|
NM_133433.4(NIPBL):c.210C>A (p.Asn70Lys)
|
|
|
|
NM_133433.4(NIPBL):c.2129G>A (p.Arg710Gln)
|
|
|
|
NM_133433.4(NIPBL):c.2224A>C (p.Ser742Arg)
|
|
|
|
NM_133433.4(NIPBL):c.2227C>T (p.Arg743Cys)
|
|
|
|
NM_133433.4(NIPBL):c.2298G>T (p.Arg766Ser)
|
|
|
|
NM_133433.4(NIPBL):c.2317A>G (p.Thr773Ala)
|
|
|
|
NM_133433.4(NIPBL):c.2323A>G (p.Lys775Glu)
|
|
|
|
NM_133433.4(NIPBL):c.2332G>C (p.Glu778Gln)
|
rs1744671339
|
|
|
NM_133433.4(NIPBL):c.2356A>G (p.Thr786Ala)
|
|
|
|
NM_133433.4(NIPBL):c.2374C>T (p.Arg792Trp)
|
|
|
|
NM_133433.4(NIPBL):c.2375G>T (p.Arg792Leu)
|
rs376912534
|
|
|
NM_133433.4(NIPBL):c.2392G>C (p.Ala798Pro)
|
|
|
|
NM_133433.4(NIPBL):c.2404A>G (p.Lys802Glu)
|
|
|
|
NM_133433.4(NIPBL):c.2426C>T (p.Ser809Phe)
|
|
|
|
NM_133433.4(NIPBL):c.2432C>A (p.Ser811Tyr)
|
|
|
|
NM_133433.4(NIPBL):c.2457TAA[1] (p.Asn820del)
|
|
|
|
NM_133433.4(NIPBL):c.2480G>A (p.Arg827Lys)
|
|
|
|
NM_133433.4(NIPBL):c.2495G>A (p.Arg832Gln)
|
|
|
|
NM_133433.4(NIPBL):c.250G>A (p.Gly84Ser)
|
|
|
|
NM_133433.4(NIPBL):c.2597T>C (p.Leu866Pro)
|
|
|
|
NM_133433.4(NIPBL):c.2680C>T (p.Arg894Cys)
|
|
|
|
NM_133433.4(NIPBL):c.2681G>A (p.Arg894His)
|
rs775238155
|
|
|
NM_133433.4(NIPBL):c.2698T>A (p.Ser900Thr)
|
|
|
|
NM_133433.4(NIPBL):c.2746A>G (p.Lys916Glu)
|
|
|
|
NM_133433.4(NIPBL):c.2775G>C (p.Lys925Asn)
|
|
|
|
NM_133433.4(NIPBL):c.2824C>A (p.Pro942Thr)
|
|
|
|
NM_133433.4(NIPBL):c.295G>A (p.Val99Ile)
|
|
|
|
NM_133433.4(NIPBL):c.2975T>C (p.Val992Ala)
|
|
|
|
NM_133433.4(NIPBL):c.2980G>T (p.Asp994Tyr)
|
|
|
|
NM_133433.4(NIPBL):c.3049A>C (p.Ile1017Leu)
|
|
|
|
NM_133433.4(NIPBL):c.3080C>T (p.Ser1027Phe)
|
|
|
|
NM_133433.4(NIPBL):c.3101A>G (p.Lys1034Arg)
|
|
|
|
NM_133433.4(NIPBL):c.3124A>G (p.Ser1042Gly)
|
|
|
|
NM_133433.4(NIPBL):c.3284A>C (p.Asp1095Ala)
|
|
|
|
NM_133433.4(NIPBL):c.3296C>T (p.Ala1099Val)
|
|
|
|
NM_133433.4(NIPBL):c.3310A>G (p.Arg1104Gly)
|
rs2149668934
|
|
|
NM_133433.4(NIPBL):c.334A>C (p.Met112Leu)
|
rs1242572717
|
|
|
NM_133433.4(NIPBL):c.3350A>G (p.Tyr1117Cys)
|
|
|
|
NM_133433.4(NIPBL):c.3380A>G (p.Asp1127Gly)
|
rs2149669051
|
|
|
NM_133433.4(NIPBL):c.3401C>A (p.Ser1134Tyr)
|
|
|
|
NM_133433.4(NIPBL):c.3449G>A (p.Ser1150Asn)
|
|
|
|
NM_133433.4(NIPBL):c.3459T>G (p.Asp1153Glu)
|
|
|
|
NM_133433.4(NIPBL):c.3516G>T (p.Met1172Ile)
|
rs1746709380
|
|
|
NM_133433.4(NIPBL):c.3533A>G (p.Gln1178Arg)
|
|
|
|
NM_133433.4(NIPBL):c.3548C>T (p.Ala1183Val)
|
rs892589257
|
|
|
NM_133433.4(NIPBL):c.3574+12_3574+16del
|
|
|
|
NM_133433.4(NIPBL):c.3575-3_3575-2insG
|
|
|
|
NM_133433.4(NIPBL):c.358+3G>C
|
rs1580330420
|
|
|
NM_133433.4(NIPBL):c.3649G>A (p.Asp1217Asn)
|
|
|
|
NM_133433.4(NIPBL):c.3656C>T (p.Thr1219Ile)
|
|
|
|
NM_133433.4(NIPBL):c.3672T>A (p.Asp1224Glu)
|
|
|
|
NM_133433.4(NIPBL):c.3769C>T (p.Leu1257Phe)
|
|
|
|
NM_133433.4(NIPBL):c.3775A>C (p.Thr1259Pro)
|
|
|
|
NM_133433.4(NIPBL):c.3778G>A (p.Asp1260Asn)
|
rs2149673199
|
|
|
NM_133433.4(NIPBL):c.3855+5G>A
|
rs80358378
|
|
|
NM_133433.4(NIPBL):c.385T>C (p.Ser129Pro)
|
|
|
|
NM_133433.4(NIPBL):c.386C>G (p.Ser129Cys)
|
rs1741620942
|
|
|
NM_133433.4(NIPBL):c.3937A>G (p.Thr1313Ala)
|
|
|
|
NM_133433.4(NIPBL):c.3938C>A (p.Thr1313Lys)
|
rs886042218
|
|
|
NM_133433.4(NIPBL):c.3968T>A (p.Met1323Lys)
|
rs1747444771
|
|
|
NM_133433.4(NIPBL):c.403A>G (p.Ser135Gly)
|
|
|
|
NM_133433.4(NIPBL):c.4100G>C (p.Ser1367Thr)
|
|
|
|
NM_133433.4(NIPBL):c.4117G>A (p.Ala1373Thr)
|
rs2149677952
|
|
|
NM_133433.4(NIPBL):c.4172G>C (p.Cys1391Ser)
|
|
|
|
NM_133433.4(NIPBL):c.4181T>C (p.Val1394Ala)
|
|
|
|
NM_133433.4(NIPBL):c.4183A>G (p.Ser1395Gly)
|
|
|
|
NM_133433.4(NIPBL):c.4225A>G (p.Thr1409Ala)
|
|
|
|
NM_133433.4(NIPBL):c.4255A>G (p.Ile1419Val)
|
|
|
|
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg)
|
rs587783948
|
|
|
NM_133433.4(NIPBL):c.4529A>T (p.Asp1510Val)
|
|
|
|
NM_133433.4(NIPBL):c.4539AGA[2] (p.Glu1515del)
|
|
|
|
NM_133433.4(NIPBL):c.4560A>G (p.Lys1520=)
|
|
|
|
NM_133433.4(NIPBL):c.4573G>A (p.Val1525Ile)
|
rs1351097452
|
|
|
NM_133433.4(NIPBL):c.4576G>C (p.Val1526Leu)
|
|
|
|
NM_133433.4(NIPBL):c.4603A>G (p.Met1535Val)
|
|
|
|
NM_133433.4(NIPBL):c.4607G>A (p.Arg1536Gln)
|
|
|
|
NM_133433.4(NIPBL):c.460C>A (p.Arg154=)
|
|
|
|
NM_133433.4(NIPBL):c.4673A>C (p.Tyr1558Ser)
|
rs1447713911
|
|
|
NM_133433.4(NIPBL):c.4709T>G (p.Leu1570Arg)
|
|
|
|
NM_133433.4(NIPBL):c.4726C>A (p.Pro1576Thr)
|
|
|
|
NM_133433.4(NIPBL):c.4834T>G (p.Tyr1612Asp)
|
rs1749083607
|
|
|
NM_133433.4(NIPBL):c.4847T>C (p.Val1616Ala)
|
|
|
|
NM_133433.4(NIPBL):c.4856G>T (p.Arg1619Leu)
|
rs772077115
|
|
|
NM_133433.4(NIPBL):c.4920+5T>G
|
|
|
|
NM_133433.4(NIPBL):c.4996G>A (p.Asp1666Asn)
|
|
|
|
NM_133433.4(NIPBL):c.5005C>A (p.Leu1669Ile)
|
|
|
|
NM_133433.4(NIPBL):c.5027A>G (p.Tyr1676Cys)
|
|
|
|
NM_133433.4(NIPBL):c.5044C>G (p.Arg1682Gly)
|
|
|
|
NM_133433.4(NIPBL):c.5045G>A (p.Arg1682Gln)
|
|
|
|
NM_133433.4(NIPBL):c.5113C>T (p.His1705Tyr)
|
|
|
|
NM_133433.4(NIPBL):c.5126A>C (p.Glu1709Ala)
|
|
|
|
NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala)
|
|
|
|
NM_133433.4(NIPBL):c.5168G>A (p.Arg1723Gln)
|
rs886060558
|
|
|
NM_133433.4(NIPBL):c.5226-3C>T
|
|
|
|
NM_133433.4(NIPBL):c.5230A>G (p.Asn1744Asp)
|
|
|
|
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)
|
rs80358380
|
|
|
NM_133433.4(NIPBL):c.5429T>C (p.Leu1810Pro)
|
|
|
|
NM_133433.4(NIPBL):c.5525G>A (p.Arg1842Gln)
|
|
|
|
NM_133433.4(NIPBL):c.5574+5G>T
|
|
|
|
NM_133433.4(NIPBL):c.5582G>T (p.Gly1861Val)
|
rs1750049593
|
|
|
NM_133433.4(NIPBL):c.5709+4G>C
|
|
|
|
NM_133433.4(NIPBL):c.571C>T (p.His191Tyr)
|
|
|
|
NM_133433.4(NIPBL):c.5752A>G (p.Thr1918Ala)
|
|
|
|
NM_133433.4(NIPBL):c.5767_5769del (p.Lys1923del)
|
rs1750256312
|
|
|
NM_133433.4(NIPBL):c.5803G>A (p.Asp1935Asn)
|
|
|
|
NM_133433.4(NIPBL):c.5808+6_5808+8del
|
|
|
|
NM_133433.4(NIPBL):c.586A>T (p.Thr196Ser)
|
|
|
|
NM_133433.4(NIPBL):c.5A>G (p.Asn2Ser)
|
|
|
|
NM_133433.4(NIPBL):c.6033A>T (p.Leu2011Phe)
|
rs1554030218
|
|
|
NM_133433.4(NIPBL):c.6098C>G (p.Thr2033Ser)
|
|
|
|
NM_133433.4(NIPBL):c.610G>A (p.Ala204Thr)
|
rs2149607994
|
|
|
NM_133433.4(NIPBL):c.611-3C>T
|
|
|
|
NM_133433.4(NIPBL):c.614C>T (p.Ser205Leu)
|
|
|
|
NM_133433.4(NIPBL):c.616G>A (p.Val206Ile)
|
|
|
|
NM_133433.4(NIPBL):c.6182C>A (p.Pro2061Gln)
|
rs587783999
|
|
|
NM_133433.4(NIPBL):c.6227TCA[2] (p.Ile2078del)
|
rs1554031820
|
|
|
NM_133433.4(NIPBL):c.6243C>T (p.Gly2081=)
|
rs1131691272
|
|
|
NM_133433.4(NIPBL):c.6302A>G (p.Gln2101Arg)
|
|
|
|
NM_133433.4(NIPBL):c.6332A>G (p.Asn2111Ser)
|
|
|
|
NM_133433.4(NIPBL):c.6343+4A>T
|
rs1344872907
|
|
|
NM_133433.4(NIPBL):c.64+4del
|
rs1740653321
|
|
|
NM_133433.4(NIPBL):c.64+5G>A
|
rs587784011
|
|
|
NM_133433.4(NIPBL):c.64+6T>A
|
rs1554010766
|
|
|
NM_133433.4(NIPBL):c.6430C>T (p.Leu2144Phe)
|
|
|
|
NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp)
|
rs1579561078
|
|
|
NM_133433.4(NIPBL):c.6574G>T (p.Ala2192Ser)
|
|
|
|
NM_133433.4(NIPBL):c.667G>C (p.Val223Leu)
|
|
|
|
NM_133433.4(NIPBL):c.6703A>G (p.Lys2235Glu)
|
|
|
|
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile)
|
rs587784023
|
|
|
NM_133433.4(NIPBL):c.6840G>A (p.Gln2280=)
|
|
|
|
NM_133433.4(NIPBL):c.6846T>C (p.Tyr2282=)
|
|
|
|
NM_133433.4(NIPBL):c.6864G>T (p.Glu2288Asp)
|
|
|
|
NM_133433.4(NIPBL):c.6911T>G (p.Val2304Gly)
|
rs2149737924
|
|
|
NM_133433.4(NIPBL):c.6962C>T (p.Pro2321Leu)
|
rs1064796744
|
|
|
NM_133433.4(NIPBL):c.6977T>G (p.Met2326Arg)
|
|
|
|
NM_133433.4(NIPBL):c.7008C>A (p.Asn2336Lys)
|
|
|
|
NM_133433.4(NIPBL):c.7118C>T (p.Thr2373Ile)
|
|
|
|
NM_133433.4(NIPBL):c.7135G>A (p.Val2379Ile)
|
|
|
|
NM_133433.4(NIPBL):c.7244A>G (p.Asn2415Ser)
|
|
|
|
NM_133433.4(NIPBL):c.7263+3A>G
|
rs1554033589
|
|
|
NM_133433.4(NIPBL):c.7357A>G (p.Ile2453Val)
|
|
|
|
NM_133433.4(NIPBL):c.7372T>C (p.Ser2458Pro)
|
rs2149750216
|
|
|
NM_133433.4(NIPBL):c.7422G>C (p.Lys2474Asn)
|
|
|
|
NM_133433.4(NIPBL):c.7451C>T (p.Pro2484Leu)
|
|
|
|
NM_133433.4(NIPBL):c.7454G>C (p.Ser2485Thr)
|
|
|
|
NM_133433.4(NIPBL):c.7462A>G (p.Asn2488Asp)
|
|
|
|
NM_133433.4(NIPBL):c.7465G>A (p.Glu2489Lys)
|
rs1561224805
|
|
|
NM_133433.4(NIPBL):c.7481AAG[2] (p.Glu2496del)
|
|
|
|
NM_133433.4(NIPBL):c.7489G>T (p.Val2497Phe)
|
rs759115050
|
|
|
NM_133433.4(NIPBL):c.7499C>T (p.Pro2500Leu)
|
|
|
|
NM_133433.4(NIPBL):c.7502G>A (p.Arg2501Gln)
|
|
|
|
NM_133433.4(NIPBL):c.7503G>T (p.Arg2501=)
|
rs1754384795
|
|
|
NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3])
|
rs587784044
|
|
|
NM_133433.4(NIPBL):c.7549G>A (p.Asp2517Asn)
|
|
|
|
NM_133433.4(NIPBL):c.7553A>G (p.Asp2518Gly)
|
rs756187678
|
|
|
NM_133433.4(NIPBL):c.7586A>G (p.Asn2529Ser)
|
|
|
|
NM_133433.4(NIPBL):c.760C>T (p.Leu254=)
|
|
|
|
NM_133433.4(NIPBL):c.7612A>C (p.Asn2538His)
|
|
|
|
NM_133433.4(NIPBL):c.771C>T (p.Asp257=)
|
|
|
|
NM_133433.4(NIPBL):c.7727A>G (p.Tyr2576Cys)
|
rs80358351
|
|
|
NM_133433.4(NIPBL):c.7748A>G (p.Lys2583Arg)
|
|
|
|
NM_133433.4(NIPBL):c.7793G>A (p.Arg2598Gln)
|
|
|
|
NM_133433.4(NIPBL):c.7808A>C (p.Asn2603Thr)
|
rs2149755591
|
|
|
NM_133433.4(NIPBL):c.784T>C (p.Ser262Pro)
|
|
|
|
NM_133433.4(NIPBL):c.7867C>T (p.Leu2623Phe)
|
|
|
|
NM_133433.4(NIPBL):c.7895AAG[4] (p.Glu2636del)
|
|
|
|
NM_133433.4(NIPBL):c.790A>G (p.Met264Val)
|
|
|
|
NM_133433.4(NIPBL):c.8049+6G>A
|
|
|
|
NM_133433.4(NIPBL):c.8086G>A (p.Glu2696Lys)
|
|
|
|
NM_133433.4(NIPBL):c.824C>T (p.Pro275Leu)
|
|
|
|
NM_133433.4(NIPBL):c.8291A>G (p.Asp2764Gly)
|
|
|
|
NM_133433.4(NIPBL):c.8294C>T (p.Thr2765Ile)
|
|
|
|
NM_133433.4(NIPBL):c.8296_8301del (p.Ile2766_Lys2767del)
|
|
|
|
NM_133433.4(NIPBL):c.8311A>G (p.Ile2771Val)
|
|
|
|
NM_133433.4(NIPBL):c.8329G>T (p.Ala2777Ser)
|
|
|
|
NM_133433.4(NIPBL):c.8368C>G (p.Gln2790Glu)
|
|
|
|
NM_133433.4(NIPBL):c.836G>A (p.Cys279Tyr)
|
|
|
|
NM_133433.4(NIPBL):c.837C>G (p.Cys279Trp)
|
|
|
|
NM_133433.4(NIPBL):c.838T>G (p.Ser280Ala)
|
|
|
|
NM_133433.4(NIPBL):c.8392G>A (p.Ala2798Thr)
|
|
|
|
NM_133433.4(NIPBL):c.842C>G (p.Pro281Arg)
|
|
|
|
NM_133433.4(NIPBL):c.868+4C>G
|
|
|
|
NM_133433.4(NIPBL):c.868+4C>T
|
|
|
|
NM_133433.4(NIPBL):c.889C>G (p.Leu297Val)
|
|
|
|
NM_133433.4(NIPBL):c.893A>T (p.Gln298Leu)
|
|
|
|
NM_133433.4(NIPBL):c.904C>G (p.Leu302Val)
|
|
|
|
NM_133433.4(NIPBL):c.923G>A (p.Arg308Gln)
|
|
|
|
NM_133433.4(NIPBL):c.938A>G (p.Asp313Gly)
|
|
|
|
NM_133433.4(NIPBL):c.941T>C (p.Ile314Thr)
|
|
|
|
NM_133433.4(NIPBL):c.971A>T (p.Lys324Met)
|
|
|
|
NM_147127.5(EVC2):c.1006G>T (p.Val336Phe)
|
|
|
|
NM_147127.5(EVC2):c.101G>A (p.Ser34Asn)
|
rs888701582
|
|
|
NM_147127.5(EVC2):c.1046C>T (p.Thr349Ile)
|
|
|
|
NM_147127.5(EVC2):c.1054G>C (p.Asp352His)
|
|
|
|
NM_147127.5(EVC2):c.1060G>A (p.Val354Met)
|
|
|
|
NM_147127.5(EVC2):c.1082A>G (p.Asn361Ser)
|
|
|
|
NM_147127.5(EVC2):c.1089A>G (p.Gln363=)
|
|
|
|
NM_147127.5(EVC2):c.1112A>G (p.Glu371Gly)
|
|
|
|
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr)
|
rs780517206
|
|
|
NM_147127.5(EVC2):c.1159A>G (p.Thr387Ala)
|
|
|
|
NM_147127.5(EVC2):c.1166A>G (p.Asn389Ser)
|
|
|
|
NM_147127.5(EVC2):c.1168C>T (p.Arg390Trp)
|
|
|
|
NM_147127.5(EVC2):c.1172C>T (p.Ala391Val)
|
|
|
|
NM_147127.5(EVC2):c.1186G>A (p.Glu396Lys)
|
rs2108864342
|
|
|
NM_147127.5(EVC2):c.1196G>A (p.Arg399Gln)
|
|
|
|
NM_147127.5(EVC2):c.11C>G (p.Ser4Trp)
|
|
|
|
NM_147127.5(EVC2):c.1209C>A (p.Ser403Arg)
|
|
|
|
NM_147127.5(EVC2):c.1214A>G (p.Asp405Gly)
|
|
|
|
NM_147127.5(EVC2):c.1215T>A (p.Asp405Glu)
|
|
|
|
NM_147127.5(EVC2):c.121C>A (p.Pro41Thr)
|
|
|
|
NM_147127.5(EVC2):c.1220T>C (p.Ile407Thr)
|
|
|
|
NM_147127.5(EVC2):c.1228C>G (p.Leu410Val)
|
|
|
|
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser)
|
rs1381375453
|
|
|
NM_147127.5(EVC2):c.1298A>G (p.Lys433Arg)
|
|
|
|
NM_147127.5(EVC2):c.1319A>T (p.Glu440Val)
|
|
|
|
NM_147127.5(EVC2):c.1342G>A (p.Asp448Asn)
|
|
|
|
NM_147127.5(EVC2):c.1345C>T (p.Arg449Trp)
|
|
|
|
NM_147127.5(EVC2):c.1381G>A (p.Glu461Lys)
|
rs2108863818
|
|
|
NM_147127.5(EVC2):c.139C>A (p.Pro47Thr)
|
|
|
|
NM_147127.5(EVC2):c.1417G>C (p.Glu473Gln)
|
|
|
|
NM_147127.5(EVC2):c.1456C>A (p.Arg486Ser)
|
|
|
|
NM_147127.5(EVC2):c.1470+6A>G
|
|
|
|
NM_147127.5(EVC2):c.1514T>C (p.Leu505Pro)
|
|
|
|
NM_147127.5(EVC2):c.1516G>A (p.Glu506Lys)
|
|
|
|
NM_147127.5(EVC2):c.1540C>T (p.Leu514Phe)
|
|
|
|
NM_147127.5(EVC2):c.1554AGA[2] (p.Glu520del)
|
rs772411576
|
|
|
NM_147127.5(EVC2):c.1556A>G (p.Glu519Gly)
|
|
|
|
NM_147127.5(EVC2):c.1562A>G (p.Asp521Gly)
|
|
|
|
NM_147127.5(EVC2):c.1574C>T (p.Ala525Val)
|
|
|
|
NM_147127.5(EVC2):c.1589C>A (p.Ala530Asp)
|
rs1329925495
|
|
|
NM_147127.5(EVC2):c.1616G>T (p.Ser539Ile)
|
|
|
|
NM_147127.5(EVC2):c.1634T>C (p.Ile545Thr)
|
|
|
|
NM_147127.5(EVC2):c.1637A>C (p.Lys546Thr)
|
|
|
|
NM_147127.5(EVC2):c.1645A>G (p.Ile549Val)
|
|
|
|
NM_147127.5(EVC2):c.1675G>A (p.Ala559Thr)
|
|
|
|
NM_147127.5(EVC2):c.1688T>C (p.Leu563Pro)
|
|
|
|
NM_147127.5(EVC2):c.1700C>T (p.Ser567Phe)
|
|
|
|
NM_147127.5(EVC2):c.1740C>G (p.Phe580Leu)
|
|
|
|
NM_147127.5(EVC2):c.176G>A (p.Gly59Asp)
|
|
|
|
NM_147127.5(EVC2):c.176G>C (p.Gly59Ala)
|
|
|
|
NM_147127.5(EVC2):c.1782C>G (p.His594Gln)
|
|
|
|
NM_147127.5(EVC2):c.1788_1793del (p.Tyr597_Leu598del)
|
|
|
|
NM_147127.5(EVC2):c.1802A>G (p.Asn601Ser)
|
rs775815805
|
|
|
NM_147127.5(EVC2):c.1811C>T (p.Ser604Leu)
|
|
|
|
NM_147127.5(EVC2):c.1825G>A (p.Val609Met)
|
|
|
|
NM_147127.5(EVC2):c.1859T>A (p.Leu620Gln)
|
rs1560177469
|
|
|
NM_147127.5(EVC2):c.1886+3A>G
|
rs2108846962
|
|
|
NM_147127.5(EVC2):c.1888G>A (p.Ala630Thr)
|
|
|
|
NM_147127.5(EVC2):c.1889C>G (p.Ala630Gly)
|
|
|
|
NM_147127.5(EVC2):c.1892G>T (p.Gly631Val)
|
|
|
|
NM_147127.5(EVC2):c.1926G>T (p.Leu642Phe)
|
rs2108843340
|
|
|
NM_147127.5(EVC2):c.1929G>C (p.Glu643Asp)
|
|
|
|
NM_147127.5(EVC2):c.1977C>G (p.Asp659Glu)
|
|
|
|
NM_147127.5(EVC2):c.1994A>T (p.Lys665Ile)
|
|
|
|
NM_147127.5(EVC2):c.199A>G (p.Ser67Gly)
|
rs1722347761
|
|
|
NM_147127.5(EVC2):c.2053G>A (p.Glu685Lys)
|
|
|
|
NM_147127.5(EVC2):c.2057A>G (p.Gln686Arg)
|
|
|
|
NM_147127.5(EVC2):c.2059C>T (p.Arg687Cys)
|
|
|
|
NM_147127.5(EVC2):c.2093G>A (p.Arg698Gln)
|
|
|
|
NM_147127.5(EVC2):c.2107G>A (p.Ala703Thr)
|
rs1381479998
|
|
|
NM_147127.5(EVC2):c.2108C>T (p.Ala703Val)
|
|
|
|
NM_147127.5(EVC2):c.2124C>G (p.His708Gln)
|
|
|
|
NM_147127.5(EVC2):c.2135G>A (p.Ser712Asn)
|
rs371896802
|
|
|
NM_147127.5(EVC2):c.214G>C (p.Glu72Gln)
|
|
|
|
NM_147127.5(EVC2):c.2159C>A (p.Thr720Asn)
|
|
|
|
NM_147127.5(EVC2):c.2164_2172dup (p.Leu724_Gln725insGluGluLeu)
|
|
|
|
NM_147127.5(EVC2):c.2200G>A (p.Asp734Asn)
|
rs1715808033
|
|
|
NM_147127.5(EVC2):c.2210G>A (p.Arg737Lys)
|
|
|
|
NM_147127.5(EVC2):c.2258G>A (p.Arg753His)
|
|
|
|
NM_147127.5(EVC2):c.227A>G (p.Gln76Arg)
|
rs976833828
|
|
|
NM_147127.5(EVC2):c.2296C>T (p.Arg766Cys)
|
|
|
|
NM_147127.5(EVC2):c.2297G>A (p.Arg766His)
|
|
|
|
NM_147127.5(EVC2):c.2297G>T (p.Arg766Leu)
|
|
|
|
NM_147127.5(EVC2):c.2305C>T (p.Pro769Ser)
|
rs1454769055
|
|
|
NM_147127.5(EVC2):c.2341G>A (p.Gly781Ser)
|
rs1272970867
|
|
|
NM_147127.5(EVC2):c.2356G>T (p.Ala786Ser)
|
|
|
|
NM_147127.5(EVC2):c.2365G>A (p.Glu789Lys)
|
|
|
|
NM_147127.5(EVC2):c.2376G>C (p.Glu792Asp)
|
|
|
|
NM_147127.5(EVC2):c.2377G>C (p.Gly793Arg)
|
|
|
|
NM_147127.5(EVC2):c.2386A>G (p.Arg796Gly)
|
|
|
|
NM_147127.5(EVC2):c.2390A>C (p.Asp797Ala)
|
rs931667385
|
|
|
NM_147127.5(EVC2):c.241A>T (p.Met81Leu)
|
|
|
|
NM_147127.5(EVC2):c.243G>A (p.Met81Ile)
|
|
|
|
NM_147127.5(EVC2):c.2467G>A (p.Ala823Thr)
|
|
|
|
NM_147127.5(EVC2):c.2474T>C (p.Leu825Pro)
|
rs1270446777
|
|
|
NM_147127.5(EVC2):c.2479C>T (p.Arg827Cys)
|
|
|
|
NM_147127.5(EVC2):c.2482T>C (p.Trp828Arg)
|
|
|
|
NM_147127.5(EVC2):c.2490C>A (p.His830Gln)
|
|
|
|
NM_147127.5(EVC2):c.2506C>T (p.Leu836Phe)
|
|
|
|
NM_147127.5(EVC2):c.2512T>C (p.Ser838Pro)
|
|
|
|
NM_147127.5(EVC2):c.2518G>A (p.Val840Ile)
|
rs2108833529
|
|
|
NM_147127.5(EVC2):c.2585T>A (p.Met862Lys)
|
|
|
|
NM_147127.5(EVC2):c.2587G>A (p.Asp863Asn)
|
|
|
|
NM_147127.5(EVC2):c.2614C>T (p.Arg872Trp)
|
|
|
|
NM_147127.5(EVC2):c.2643G>C (p.Gln881His)
|
|
|
|
NM_147127.5(EVC2):c.2654G>A (p.Arg885Gln)
|
|
|
|
NM_147127.5(EVC2):c.2686G>A (p.Val896Met)
|
|
|
|
NM_147127.5(EVC2):c.2695C>T (p.Pro899Ser)
|
|
|
|
NM_147127.5(EVC2):c.2706G>C (p.Gln902His)
|
|
|
|
NM_147127.5(EVC2):c.2707-9C>A
|
rs772234395
|
|
|
NM_147127.5(EVC2):c.2731C>T (p.Arg911Trp)
|
|
|
|
NM_147127.5(EVC2):c.2732G>C (p.Arg911Pro)
|
|
|
|
NM_147127.5(EVC2):c.2785A>G (p.Ile929Val)
|
|
|
|
NM_147127.5(EVC2):c.2815G>A (p.Asp939Asn)
|
|
|
|
NM_147127.5(EVC2):c.2834G>A (p.Arg945Gln)
|
|
|
|
NM_147127.5(EVC2):c.2885G>A (p.Gly962Asp)
|
rs748869122
|
|
|
NM_147127.5(EVC2):c.2929C>T (p.Arg977Trp)
|
|
|
|
NM_147127.5(EVC2):c.2938G>A (p.Glu980Lys)
|
|
|
|
NM_147127.5(EVC2):c.2941A>T (p.Thr981Ser)
|
|
|
|
NM_147127.5(EVC2):c.2948C>T (p.Ser983Leu)
|
rs536732931
|
|
|
NM_147127.5(EVC2):c.2957C>T (p.Thr986Ile)
|
|
|
|
NM_147127.5(EVC2):c.2993A>T (p.Glu998Val)
|
|
|
|
NM_147127.5(EVC2):c.3010A>G (p.Met1004Val)
|
|
|
|
NM_147127.5(EVC2):c.3012G>A (p.Met1004Ile)
|
|
|
|
NM_147127.5(EVC2):c.3023C>G (p.Ser1008Trp)
|
rs60809236
|
|
|
NM_147127.5(EVC2):c.303G>A (p.Met101Ile)
|
|
|
|
NM_147127.5(EVC2):c.3047C>T (p.Ser1016Leu)
|
|
|
|
NM_147127.5(EVC2):c.3086A>G (p.Glu1029Gly)
|
|
|
|
NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu)
|
rs370438593
|
|
|
NM_147127.5(EVC2):c.3102G>T (p.Gln1034His)
|
|
|
|
NM_147127.5(EVC2):c.3141G>T (p.Trp1047Cys)
|
|
|
|
NM_147127.5(EVC2):c.3161G>T (p.Gly1054Val)
|
|
|
|
NM_147127.5(EVC2):c.3166G>A (p.Gly1056Arg)
|
|
|
|
NM_147127.5(EVC2):c.3215C>T (p.Thr1072Ile)
|
|
|
|
NM_147127.5(EVC2):c.3237C>T (p.Ser1079=)
|
|
|
|
NM_147127.5(EVC2):c.3238A>C (p.Lys1080Gln)
|
|
|
|
NM_147127.5(EVC2):c.3240G>C (p.Lys1080Asn)
|
|
|
|
NM_147127.5(EVC2):c.3269A>C (p.Gln1090Pro)
|
|
|
|
NM_147127.5(EVC2):c.32C>G (p.Thr11Arg)
|
|
|
|
NM_147127.5(EVC2):c.3325A>G (p.Met1109Val)
|
|
|
|
NM_147127.5(EVC2):c.3360+16C>G
|
|
|
|
NM_147127.5(EVC2):c.3360G>C (p.Gln1120His)
|
rs1577106433
|
|
|
NM_147127.5(EVC2):c.3386C>A (p.Ala1129Glu)
|
|
|
|
NM_147127.5(EVC2):c.3386C>T (p.Ala1129Val)
|
|
|
|
NM_147127.5(EVC2):c.3395C>T (p.Ala1132Val)
|
|
|
|
NM_147127.5(EVC2):c.3397A>C (p.Met1133Leu)
|
|
|
|
NM_147127.5(EVC2):c.3397A>G (p.Met1133Val)
|
|
|
|
NM_147127.5(EVC2):c.3410C>T (p.Ala1137Val)
|
|
|
|
NM_147127.5(EVC2):c.3418C>T (p.Arg1140Cys)
|
|
|
|
NM_147127.5(EVC2):c.3419G>A (p.Arg1140His)
|
rs779684008
|
|
|
NM_147127.5(EVC2):c.3421C>T (p.Arg1141Trp)
|
|
|
|
NM_147127.5(EVC2):c.3422G>A (p.Arg1141Gln)
|
|
|
|
NM_147127.5(EVC2):c.3436G>A (p.Val1146Ile)
|
|
|
|
NM_147127.5(EVC2):c.3470C>G (p.Ala1157Gly)
|
|
|
|
NM_147127.5(EVC2):c.3488C>T (p.Thr1163Ile)
|
|
|
|
NM_147127.5(EVC2):c.3506A>G (p.His1169Arg)
|
|
|
|
NM_147127.5(EVC2):c.3524G>T (p.Gly1175Val)
|
|
|
|
NM_147127.5(EVC2):c.3530C>T (p.Ala1177Val)
|
|
|
|
NM_147127.5(EVC2):c.3544G>A (p.Val1182Met)
|
|
|
|
NM_147127.5(EVC2):c.3544G>C (p.Val1182Leu)
|
|
|
|
NM_147127.5(EVC2):c.3544G>T (p.Val1182Leu)
|
rs144511301
|
|
|
NM_147127.5(EVC2):c.3552G>T (p.Arg1184Ser)
|
|
|
|
NM_147127.5(EVC2):c.3553C>T (p.Arg1185Trp)
|
|
|
|
NM_147127.5(EVC2):c.3554G>A (p.Arg1185Gln)
|
|
|
|
NM_147127.5(EVC2):c.3604G>T (p.Asp1202Tyr)
|
rs752599166
|
|
|
NM_147127.5(EVC2):c.3617G>A (p.Arg1206Lys)
|
|
|
|
NM_147127.5(EVC2):c.3659+3A>C
|
|
|
|
NM_147127.5(EVC2):c.3659+3A>G
|
|
|
|
NM_147127.5(EVC2):c.3659+5T>C
|
rs1722200321
|
|
|
NM_147127.5(EVC2):c.3687dup (p.Arg1230fs)
|
|
|
|
NM_147127.5(EVC2):c.3689del (p.Arg1230fs)
|
|
|
|
NM_147127.5(EVC2):c.3718A>C (p.Ser1240Arg)
|
rs1399603571
|
|
|
NM_147127.5(EVC2):c.3724C>A (p.Pro1242Thr)
|
|
|
|
NM_147127.5(EVC2):c.3760C>G (p.Pro1254Ala)
|
|
|
|
NM_147127.5(EVC2):c.3772G>T (p.Val1258Leu)
|
|
|
|
NM_147127.5(EVC2):c.3778del (p.Ala1260fs)
|
|
|
|
NM_147127.5(EVC2):c.3779C>T (p.Ala1260Val)
|
rs894829697
|
|
|
NM_147127.5(EVC2):c.3787A>T (p.Ile1263Phe)
|
|
|
|
NM_147127.5(EVC2):c.3835A>G (p.Lys1279Glu)
|
|
|
|
NM_147127.5(EVC2):c.3846G>T (p.Glu1282Asp)
|
|
|
|
NM_147127.5(EVC2):c.3913T>G (p.Leu1305Val)
|
|
|
|
NM_147127.5(EVC2):c.3919A>C (p.Met1307Leu)
|
|
|
|
NM_147127.5(EVC2):c.431C>T (p.Ser144Phe)
|
|
|
|
NM_147127.5(EVC2):c.434C>A (p.Pro145His)
|
|
|
|
NM_147127.5(EVC2):c.434C>G (p.Pro145Arg)
|
|
|
|
NM_147127.5(EVC2):c.434C>T (p.Pro145Leu)
|
|
|
|
NM_147127.5(EVC2):c.436A>G (p.Ile146Val)
|
|
|
|
NM_147127.5(EVC2):c.445C>T (p.Arg149Cys)
|
|
|
|
NM_147127.5(EVC2):c.49G>T (p.Gly17Cys)
|
|
|
|
NM_147127.5(EVC2):c.509A>T (p.Lys170Ile)
|
rs2151733915
|
|
|
NM_147127.5(EVC2):c.550C>G (p.Arg184Gly)
|
|
|
|
NM_147127.5(EVC2):c.555A>G (p.Ile185Met)
|
rs2151731889
|
|
|
NM_147127.5(EVC2):c.556T>C (p.Trp186Arg)
|
rs1342830628
|
|
|
NM_147127.5(EVC2):c.55C>A (p.Leu19Met)
|
rs1722364834
|
|
|
NM_147127.5(EVC2):c.566T>A (p.Val189Asp)
|
|
|
|
NM_147127.5(EVC2):c.596A>G (p.Asn199Ser)
|
rs567458437
|
|
|
NM_147127.5(EVC2):c.610C>T (p.Leu204Phe)
|
|
|
|
NM_147127.5(EVC2):c.616C>G (p.Leu206Val)
|
|
|
|
NM_147127.5(EVC2):c.638C>T (p.Thr213Ile)
|
rs2151731712
|
|
|
NM_147127.5(EVC2):c.646G>A (p.Asp216Asn)
|
|
|
|
NM_147127.5(EVC2):c.649T>C (p.Ser217Pro)
|
|
|
|
NM_147127.5(EVC2):c.656G>A (p.Gly219Glu)
|
rs1720935592
|
|
|
NM_147127.5(EVC2):c.662G>A (p.Arg221Lys)
|
|
|
|
NM_147127.5(EVC2):c.689G>A (p.Ser230Asn)
|
|
|
|
NM_147127.5(EVC2):c.706+6A>G
|
|
|
|
NM_147127.5(EVC2):c.722C>T (p.Ala241Val)
|
|
|
|
NM_147127.5(EVC2):c.734C>A (p.Ala245Glu)
|
rs1720636458
|
|
|
NM_147127.5(EVC2):c.740C>T (p.Thr247Met)
|
|
|
|
NM_147127.5(EVC2):c.748G>A (p.Ala250Thr)
|
|
|
|
NM_147127.5(EVC2):c.749C>T (p.Ala250Val)
|
|
|
|
NM_147127.5(EVC2):c.760G>A (p.Gly254Arg)
|
|
|
|
NM_147127.5(EVC2):c.766G>A (p.Gly256Arg)
|
|
|
|
NM_147127.5(EVC2):c.787G>A (p.Ala263Thr)
|
|
|
|
NM_147127.5(EVC2):c.797C>G (p.Thr266Ser)
|
|
|
|
NM_147127.5(EVC2):c.797C>T (p.Thr266Ile)
|
|
|
|
NM_147127.5(EVC2):c.80G>C (p.Gly27Ala)
|
|
|
|
NM_147127.5(EVC2):c.83G>A (p.Arg28Gln)
|
|
|
|
NM_147127.5(EVC2):c.844T>A (p.Ser282Thr)
|
|
|
|
NM_147127.5(EVC2):c.845C>G (p.Ser282Cys)
|
|
|
|
NM_147127.5(EVC2):c.845C>T (p.Ser282Phe)
|
|
|
|
NM_147127.5(EVC2):c.847A>G (p.Ile283Val)
|
|
|
|
NM_147127.5(EVC2):c.856G>A (p.Glu286Lys)
|
|
|
|
NM_147127.5(EVC2):c.864C>G (p.Asn288Lys)
|
rs144730069
|
|
|
NM_147127.5(EVC2):c.865G>C (p.Val289Leu)
|
|
|
|
NM_147127.5(EVC2):c.886G>A (p.Gly296Ser)
|
|
|
|
NM_147127.5(EVC2):c.887G>T (p.Gly296Val)
|
|
|
|
NM_147127.5(EVC2):c.938C>G (p.Thr313Ser)
|
|
|
|
NM_147127.5(EVC2):c.950T>C (p.Leu317Pro)
|
|
|
|
NM_147127.5(EVC2):c.960G>C (p.Met320Ile)
|
|
|
|
NM_147127.5(EVC2):c.964C>T (p.Arg322Cys)
|
|
|
|
NM_153717.3(EVC):c.1031T>C (p.Met344Thr)
|
|
|
|
NM_153717.3(EVC):c.104G>A (p.Gly35Asp)
|
rs1560259105
|
|
|
NM_153717.3(EVC):c.1050G>C (p.Met350Ile)
|
rs1729670311
|
|
|
NM_153717.3(EVC):c.1060G>A (p.Glu354Lys)
|
|
|
|
NM_153717.3(EVC):c.1119G>A (p.Met373Ile)
|
rs1397539769
|
|
|
NM_153717.3(EVC):c.1123C>T (p.Arg375Trp)
|
|
|
|
NM_153717.3(EVC):c.1141G>A (p.Val381Met)
|
rs2152076238
|
|
|
NM_153717.3(EVC):c.114CGGCCT[1] (p.39GL[1])
|
rs1164121689
|
|
|
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4])
|
rs1164121689
|
|
|
NM_153717.3(EVC):c.1186C>G (p.Arg396Gly)
|
|
|
|
NM_153717.3(EVC):c.1186C>T (p.Arg396Trp)
|
|
|
|
NM_153717.3(EVC):c.1187G>A (p.Arg396Gln)
|
|
|
|
NM_153717.3(EVC):c.1207G>A (p.Gly403Ser)
|
|
|
|
NM_153717.3(EVC):c.1207G>C (p.Gly403Arg)
|
|
|
|
NM_153717.3(EVC):c.1226G>T (p.Gly409Val)
|
rs1577440027
|
|
|
NM_153717.3(EVC):c.1232G>A (p.Gly411Glu)
|
|
|
|
NM_153717.3(EVC):c.1268C>T (p.Thr423Met)
|
|
|
|
NM_153717.3(EVC):c.1312C>T (p.Arg438Trp)
|
|
|
|
NM_153717.3(EVC):c.1336G>T (p.Asp446Tyr)
|
|
|
|
NM_153717.3(EVC):c.1379C>T (p.Ala460Val)
|
rs1309149029
|
|
|
NM_153717.3(EVC):c.1388C>G (p.Thr463Arg)
|
|
|
|
NM_153717.3(EVC):c.1409_1420dup (p.Phe473_Leu474insGlnArgSerPhe)
|
|
|
|
NM_153717.3(EVC):c.1441G>C (p.Ala481Pro)
|
|
|
|
NM_153717.3(EVC):c.1454A>C (p.Lys485Thr)
|
|
|
|
NM_153717.3(EVC):c.1481T>C (p.Leu494Pro)
|
|
|
|
NM_153717.3(EVC):c.1493G>T (p.Arg498Met)
|
rs1577453796
|
|
|
NM_153717.3(EVC):c.1495C>G (p.Leu499Val)
|
|
|
|
NM_153717.3(EVC):c.1520A>G (p.Glu507Gly)
|
|
|
|
NM_153717.3(EVC):c.1528G>C (p.Val510Leu)
|
rs143971158
|
|
|
NM_153717.3(EVC):c.1603G>A (p.Val535Met)
|
rs753720935
|
|
|
NM_153717.3(EVC):c.1607A>T (p.Asp536Val)
|
|
|
|
NM_153717.3(EVC):c.1623G>T (p.Gln541His)
|
|
|
|
NM_153717.3(EVC):c.1625C>T (p.Thr542Met)
|
|
|
|
NM_153717.3(EVC):c.1631C>T (p.Pro544Leu)
|
|
|
|
NM_153717.3(EVC):c.1648C>G (p.Pro550Ala)
|
|
|
|
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg)
|
rs371682994
|
|
|
NM_153717.3(EVC):c.1659G>C (p.Glu553Asp)
|
|
|
|
NM_153717.3(EVC):c.1673G>T (p.Arg558Met)
|
|
|
|
NM_153717.3(EVC):c.1687G>A (p.Glu563Lys)
|
rs539010490
|
|
|
NM_153717.3(EVC):c.1720C>G (p.Arg574Gly)
|
rs141820870
|
|
|
NM_153717.3(EVC):c.1727G>T (p.Arg576Leu)
|
rs1383180
|
|
|
NM_153717.3(EVC):c.1737G>T (p.Gln579His)
|
|
|
|
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu)
|
rs1736003818
|
|
|
NM_153717.3(EVC):c.1787A>C (p.Glu596Ala)
|
|
|
|
NM_153717.3(EVC):c.1802C>T (p.Ser601Phe)
|
rs1713205522
|
|
|
NM_153717.3(EVC):c.1804A>C (p.Ser602Arg)
|
|
|
|
NM_153717.3(EVC):c.1844C>A (p.Thr615Asn)
|
|
|
|
NM_153717.3(EVC):c.1854_1855delinsTA (p.Val619Ile)
|
|
|
|
NM_153717.3(EVC):c.1894C>T (p.Arg632Trp)
|
|
|
|
NM_153717.3(EVC):c.1895G>A (p.Arg632Gln)
|
|
|
|
NM_153717.3(EVC):c.1895G>C (p.Arg632Pro)
|
rs535632933
|
|
|
NM_153717.3(EVC):c.1907A>G (p.Gln636Arg)
|
rs757227773
|
|
|
NM_153717.3(EVC):c.1939C>T (p.Arg647Trp)
|
|
|
|
NM_153717.3(EVC):c.193C>A (p.Leu65Met)
|
|
|
|
NM_153717.3(EVC):c.1940G>C (p.Arg647Pro)
|
rs35401386
|
|
|
NM_153717.3(EVC):c.1949C>T (p.Ala650Val)
|
|
|
|
NM_153717.3(EVC):c.1972A>T (p.Thr658Ser)
|
rs1577616840
|
|
|
NM_153717.3(EVC):c.2009T>A (p.Leu670His)
|
|
|
|
NM_153717.3(EVC):c.2068G>A (p.Glu690Lys)
|
|
|
|
NM_153717.3(EVC):c.2096T>C (p.Leu699Pro)
|
rs2152340934
|
|
|
NM_153717.3(EVC):c.2104C>G (p.Arg702Gly)
|
rs545087909
|
|
|
NM_153717.3(EVC):c.2105G>A (p.Arg702His)
|
|
|
|
NM_153717.3(EVC):c.2131G>C (p.Glu711Gln)
|
rs1430134537
|
|
|
NM_153717.3(EVC):c.2134G>A (p.Glu712Lys)
|
|
|
|
NM_153717.3(EVC):c.2152C>T (p.Arg718Trp)
|
|
|
|
NM_153717.3(EVC):c.218C>T (p.Ala73Val)
|
rs1361442490
|
|
|
NM_153717.3(EVC):c.2227G>A (p.Ala743Thr)
|
|
|
|
NM_153717.3(EVC):c.2231T>C (p.Ile744Thr)
|
|
|
|
NM_153717.3(EVC):c.2240C>T (p.Ala747Val)
|
|
|
|
NM_153717.3(EVC):c.2257C>T (p.Arg753Trp)
|
|
|
|
NM_153717.3(EVC):c.226C>G (p.Pro76Ala)
|
|
|
|
NM_153717.3(EVC):c.2274G>C (p.Lys758Asn)
|
|
|
|
NM_153717.3(EVC):c.230C>T (p.Ser77Leu)
|
|
|
|
NM_153717.3(EVC):c.2321C>T (p.Ala774Val)
|
|
|
|
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser)
|
rs773252806
|
|
|
NM_153717.3(EVC):c.2339A>G (p.Tyr780Cys)
|
|
|
|
NM_153717.3(EVC):c.2350G>T (p.Ala784Ser)
|
rs149537641
|
|
|
NM_153717.3(EVC):c.235A>G (p.Thr79Ala)
|
|
|
|
NM_153717.3(EVC):c.2368G>A (p.Val790Met)
|
|
|
|
NM_153717.3(EVC):c.2375C>T (p.Ala792Val)
|
|
|
|
NM_153717.3(EVC):c.2424A>T (p.Lys808Asn)
|
|
|
|
NM_153717.3(EVC):c.2449+5G>A
|
|
|
|
NM_153717.3(EVC):c.2476C>T (p.Arg826Trp)
|
|
|
|
NM_153717.3(EVC):c.2497A>G (p.Asn833Asp)
|
|
|
|
NM_153717.3(EVC):c.2510G>A (p.Gly837Asp)
|
|
|
|
NM_153717.3(EVC):c.2524G>A (p.Gly842Ser)
|
rs1446692986
|
|
|
NM_153717.3(EVC):c.2525G>A (p.Gly842Asp)
|
|
|
|
NM_153717.3(EVC):c.2527G>A (p.Gly843Ser)
|
|
|
|
NM_153717.3(EVC):c.2530G>A (p.Ala844Thr)
|
|
|
|
NM_153717.3(EVC):c.2549C>T (p.Ala850Val)
|
|
|
|
NM_153717.3(EVC):c.2580G>C (p.Lys860Asn)
|
|
|
|
NM_153717.3(EVC):c.2617C>T (p.Arg873Cys)
|
|
|
|
NM_153717.3(EVC):c.2641G>T (p.Ala881Ser)
|
|
|
|
NM_153717.3(EVC):c.2689-8C>G
|
|
|
|
NM_153717.3(EVC):c.2714A>G (p.Glu905Gly)
|
|
|
|
NM_153717.3(EVC):c.2743G>C (p.Ala915Pro)
|
|
|
|
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln)
|
rs1489027267
|
|
|
NM_153717.3(EVC):c.2783-3C>A
|
|
|
|
NM_153717.3(EVC):c.2842G>A (p.Val948Met)
|
|
|
|
NM_153717.3(EVC):c.2842del (p.Val948fs)
|
|
|
|
NM_153717.3(EVC):c.2858A>T (p.Asp953Val)
|
|
|
|
NM_153717.3(EVC):c.2859C>A (p.Asp953Glu)
|
|
|
|
NM_153717.3(EVC):c.2863G>T (p.Ala955Ser)
|
rs2152394584
|
|
|
NM_153717.3(EVC):c.2878A>G (p.Thr960Ala)
|
rs2152394644
|
|
|
NM_153717.3(EVC):c.2879C>G (p.Thr960Ser)
|
rs780548102
|
|
|
NM_153717.3(EVC):c.2885G>T (p.Gly962Val)
|
|
|
|
NM_153717.3(EVC):c.2894+18_2894+19delinsGA
|
|
|
|
NM_153717.3(EVC):c.2894+4T>A
|
rs746636411
|
|
|
NM_153717.3(EVC):c.2927C>T (p.Ala976Val)
|
|
|
|
NM_153717.3(EVC):c.2932G>A (p.Asp978Asn)
|
|
|
|
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr)
|
rs150173231
|
|
|
NM_153717.3(EVC):c.2964AAG[1] (p.Arg989del)
|
|
|
|
NM_153717.3(EVC):c.2970C>A (p.Ser990Arg)
|
rs1716842535
|
|
|
NM_153717.3(EVC):c.300+3A>G
|
|
|
|
NM_153717.3(EVC):c.34G>C (p.Ala12Pro)
|
rs1369066723
|
|
|
NM_153717.3(EVC):c.385-3C>T
|
rs2151934859
|
|
|
NM_153717.3(EVC):c.410C>T (p.Pro137Leu)
|
|
|
|
NM_153717.3(EVC):c.437C>G (p.Ala146Gly)
|
rs2151935147
|
|
|
NM_153717.3(EVC):c.499G>A (p.Gly167Ser)
|
|
|
|
NM_153717.3(EVC):c.49G>T (p.Gly17Trp)
|
|
|
|
NM_153717.3(EVC):c.511G>A (p.Asp171Asn)
|
|
|
|
NM_153717.3(EVC):c.535C>T (p.His179Tyr)
|
|
|
|
NM_153717.3(EVC):c.53G>T (p.Arg18Leu)
|
|
|
|
NM_153717.3(EVC):c.547A>G (p.Ser183Gly)
|
|
|
|
NM_153717.3(EVC):c.581G>C (p.Arg194Pro)
|
rs777256784
|
|
|
NM_153717.3(EVC):c.587A>G (p.Asn196Ser)
|
|
|
|
NM_153717.3(EVC):c.589G>A (p.Ala197Thr)
|
|
|
|
NM_153717.3(EVC):c.58G>C (p.Ala20Pro)
|
rs1359522467
|
|
|
NM_153717.3(EVC):c.632T>A (p.Leu211Gln)
|
|
|
|
NM_153717.3(EVC):c.65G>C (p.Arg22Pro)
|
rs2151767266
|
|
|
NM_153717.3(EVC):c.696G>C (p.Lys232Asn)
|
rs371664035
|
|
|
NM_153717.3(EVC):c.698A>C (p.His233Pro)
|
|
|
|
NM_153717.3(EVC):c.698A>G (p.His233Arg)
|
rs769431829
|
|
|
NM_153717.3(EVC):c.700A>G (p.Met234Val)
|
|
|
|
NM_153717.3(EVC):c.719T>G (p.Phe240Cys)
|
rs2152000493
|
|
|
NM_153717.3(EVC):c.726G>A (p.Met242Ile)
|
|
|
|
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro)
|
rs529818833
|
|
|
NM_153717.3(EVC):c.734T>A (p.Leu245His)
|
|
|
|
NM_153717.3(EVC):c.736G>T (p.Asp246Tyr)
|
|
|
|
NM_153717.3(EVC):c.76G>T (p.Ala26Ser)
|
|
|
|
NM_153717.3(EVC):c.809A>C (p.Glu270Ala)
|
rs1428021249
|
|
|
NM_153717.3(EVC):c.823G>A (p.Gly275Arg)
|
|
|
|
NM_153717.3(EVC):c.857C>G (p.Ser286Trp)
|
rs139263450
|
|
|
NM_153717.3(EVC):c.866G>A (p.Gly289Asp)
|
|
|
|
NM_153717.3(EVC):c.935A>G (p.Asp312Gly)
|
|
|
|
NM_153717.3(EVC):c.939T>A (p.Asn313Lys)
|
rs764394644
|
|
|
NM_153717.3(EVC):c.940A>G (p.Met314Val)
|
rs557010916
|
|
|
NM_173660.5(DOK7):c.1001G>A (p.Ser334Asn)
|
rs1467473001
|
|
|
NM_173660.5(DOK7):c.1009G>A (p.Asp337Asn)
|
rs2109418165
|
|
|
NM_173660.5(DOK7):c.1016G>C (p.Gly339Ala)
|
rs1728608485
|
|
|
NM_173660.5(DOK7):c.1018A>G (p.Ile340Val)
|
|
|
|
NM_173660.5(DOK7):c.1030A>G (p.Ser344Gly)
|
rs2109418322
|
|
|
NM_173660.5(DOK7):c.1033C>T (p.His345Tyr)
|
|
|
|
NM_173660.5(DOK7):c.1034A>G (p.His345Arg)
|
rs1577182623
|
|
|
NM_173660.5(DOK7):c.1037C>G (p.Ser346Cys)
|
rs568530359
|
|
|
NM_173660.5(DOK7):c.1049G>A (p.Ser350Asn)
|
rs1728615373
|
|
|
NM_173660.5(DOK7):c.1050C>G (p.Ser350Arg)
|
rs2109418499
|
|
|
NM_173660.5(DOK7):c.1054C>G (p.Leu352Val)
|
rs1037224921
|
|
|
NM_173660.5(DOK7):c.1066G>C (p.Ala356Pro)
|
|
|
|
NM_173660.5(DOK7):c.1067C>A (p.Ala356Glu)
|
rs368512847
|
|
|
NM_173660.5(DOK7):c.1067C>T (p.Ala356Val)
|
rs368512847
|
|
|
NM_173660.5(DOK7):c.1074_1306dup (p.Gly436fs)
|
rs1560232833
|
|
|
NM_173660.5(DOK7):c.1083C>G (p.Asp361Glu)
|
|
|
|
NM_173660.5(DOK7):c.1088G>T (p.Trp363Leu)
|
rs763666945
|
|
|
NM_173660.5(DOK7):c.1091G>T (p.Arg364Leu)
|
rs201304841
|
|
|
NM_173660.5(DOK7):c.1109G>C (p.Gly370Ala)
|
rs1728624628
|
|
|
NM_173660.5(DOK7):c.1139C>A (p.Ala380Asp)
|
rs766061571
|
|
|
NM_173660.5(DOK7):c.1139C>G (p.Ala380Gly)
|
rs766061571
|
|
|
NM_173660.5(DOK7):c.1139C>T (p.Ala380Val)
|
rs766061571
|
|
|
NM_173660.5(DOK7):c.1145A>C (p.Glu382Ala)
|
rs1728631866
|
|
|
NM_173660.5(DOK7):c.1145_1171del (p.Glu382_Pro390del)
|
|
|
|
NM_173660.5(DOK7):c.1151G>A (p.Ser384Asn)
|
rs1728632467
|
|
|
NM_173660.5(DOK7):c.1154T>C (p.Leu385Pro)
|
rs1728632885
|
|
|
NM_173660.5(DOK7):c.1168C>A (p.Pro390Thr)
|
rs149525610
|
|
|
NM_173660.5(DOK7):c.1171G>T (p.Gly391Trp)
|
|
|
|
NM_173660.5(DOK7):c.1172G>A (p.Gly391Glu)
|
rs753513427
|
|
|
NM_173660.5(DOK7):c.1205G>C (p.Arg402Pro)
|
rs370039804
|
|
|
NM_173660.5(DOK7):c.1208C>G (p.Ala403Gly)
|
|
|
|
NM_173660.5(DOK7):c.1211A>G (p.His404Arg)
|
|
|
|
NM_173660.5(DOK7):c.1228A>C (p.Ser410Arg)
|
rs547633164
|
|
|
NM_173660.5(DOK7):c.1255A>C (p.Ser419Arg)
|
rs2109420373
|
|
|
NM_173660.5(DOK7):c.1258C>A (p.Pro420Thr)
|
rs150497723
|
|
|
NM_173660.5(DOK7):c.1258C>T (p.Pro420Ser)
|
rs150497723
|
|
|
NM_173660.5(DOK7):c.1262C>T (p.Pro421Leu)
|
|
|
|
NM_173660.5(DOK7):c.1269G>A (p.Gln423=)
|
rs1247286969
|
|
|
NM_173660.5(DOK7):c.1272C>T (p.Gly424=)
|
rs1728651445
|
|
|
NM_173660.5(DOK7):c.1277C>T (p.Pro426Leu)
|
|
|
|
NM_173660.5(DOK7):c.1279G>C (p.Gly427Arg)
|
rs377555406
|
|
|
NM_173660.5(DOK7):c.1285A>G (p.Ser429Gly)
|
|
|
|
NM_173660.5(DOK7):c.1289C>G (p.Ala430Gly)
|
|
|
|
NM_173660.5(DOK7):c.1306G>A (p.Gly436Ser)
|
rs201392182
|
|
|
NM_173660.5(DOK7):c.1306G>C (p.Gly436Arg)
|
rs201392182
|
|
|
NM_173660.5(DOK7):c.1307G>A (p.Gly436Asp)
|
rs1458938692
|
|
|
NM_173660.5(DOK7):c.1313C>T (p.Thr438Met)
|
rs376805794
|
|
|
NM_173660.5(DOK7):c.1318G>T (p.Ala440Ser)
|
rs753026831
|
|
|
NM_173660.5(DOK7):c.1321G>A (p.Gly441Arg)
|
rs778266118
|
|
|
NM_173660.5(DOK7):c.1327C>T (p.Pro443Ser)
|
rs748946433
|
|
|
NM_173660.5(DOK7):c.1340_1354del (p.Leu447_Arg451del)
|
rs779508279
|
|
|
NM_173660.5(DOK7):c.1363G>A (p.Val455Met)
|
rs765823074
|
|
|
NM_173660.5(DOK7):c.1368_1385del (p.Met456_Ser462delinsIle)
|
rs1728665309
|
|
|
NM_173660.5(DOK7):c.1371G>T (p.Glu457Asp)
|
rs1455617490
|
|
|
NM_173660.5(DOK7):c.1387G>C (p.Glu463Gln)
|
rs745941308
|
|
|
NM_173660.5(DOK7):c.138_149del (p.Glu46_Gly50delinsAsp)
|
rs1577148448
|
|
|
NM_173660.5(DOK7):c.139C>T (p.Arg47Cys)
|
rs781665230
|
|
|
NM_173660.5(DOK7):c.1403_1408del (p.Gly468_Pro469del)
|
rs762148551
|
|
|
NM_173660.5(DOK7):c.1403_1408dup (p.Gly468_Pro469dup)
|
rs762148551
|
|
|
NM_173660.5(DOK7):c.1433G>A (p.Gly478Asp)
|
rs2109422552
|
|
|
NM_173660.5(DOK7):c.1435G>C (p.Gly479Arg)
|
rs140519765
|
|
|
NM_173660.5(DOK7):c.143T>C (p.Ile48Thr)
|
|
|
|
NM_173660.5(DOK7):c.1444G>T (p.Ala482Ser)
|
|
|
|
NM_173660.5(DOK7):c.1445C>A (p.Ala482Glu)
|
rs767980190
|
|
|
NM_173660.5(DOK7):c.1445C>T (p.Ala482Val)
|
rs767980190
|
|
|
NM_173660.5(DOK7):c.1459G>A (p.Ala487Thr)
|
rs751342277
|
|
|
NM_173660.5(DOK7):c.1459G>C (p.Ala487Pro)
|
rs751342277
|
|
|
NM_173660.5(DOK7):c.1469C>G (p.Ser490Trp)
|
rs77513082
|
|
|
NM_173660.5(DOK7):c.1476T>G (p.Cys492Trp)
|
rs768805841
|
|
|
NM_173660.5(DOK7):c.1487G>C (p.Gly496Ala)
|
rs373205256
|
|
|
NM_173660.5(DOK7):c.1487G>T (p.Gly496Val)
|
rs373205256
|
|
|
NM_173660.5(DOK7):c.1489G>C (p.Gly497Arg)
|
rs751223916
|
|
|
NM_173660.5(DOK7):c.1497G>T (p.Lys499Asn)
|
rs1560234858
|
|
|
NM_173660.5(DOK7):c.1498G>A (p.Val500Ile)
|
rs1041024260
|
|
|
NM_173660.5(DOK7):c.1504C>T (p.Pro502Ser)
|
rs779975668
|
|
|
NM_173660.5(DOK7):c.1510C>A (p.Pro504Thr)
|
rs1560234920
|
|
|
NM_173660.5(DOK7):c.1515A>G (p.Ter505Trp)
|
rs1553850437
|
|
|
NM_173660.5(DOK7):c.161G>T (p.Arg54Leu)
|
rs201818140
|
|
|
NM_173660.5(DOK7):c.163A>T (p.Ser55Cys)
|
rs550137245
|
|
|
NM_173660.5(DOK7):c.173C>T (p.Thr58Met)
|
|
|
|
NM_173660.5(DOK7):c.176T>C (p.Leu59Pro)
|
|
|
|
NM_173660.5(DOK7):c.185T>A (p.Ile62Asn)
|
|
|
|
NM_173660.5(DOK7):c.212A>T (p.Tyr71Phe)
|
rs771583740
|
|
|
NM_173660.5(DOK7):c.230C>A (p.Thr77Lys)
|
rs940346413
|
|
|
NM_173660.5(DOK7):c.230C>G (p.Thr77Arg)
|
|
|
|
NM_173660.5(DOK7):c.230C>T (p.Thr77Met)
|
rs940346413
|
|
|
NM_173660.5(DOK7):c.241G>C (p.Val81Leu)
|
rs763046127
|
|
|
NM_173660.5(DOK7):c.264G>T (p.Met88Ile)
|
rs1244768842
|
|
|
NM_173660.5(DOK7):c.289A>G (p.Met97Val)
|
rs2109336403
|
|
|
NM_173660.5(DOK7):c.292T>A (p.Cys98Ser)
|
rs1726898976
|
|
|
NM_173660.5(DOK7):c.317A>G (p.Tyr106Cys)
|
|
|
|
NM_173660.5(DOK7):c.31G>C (p.Val11Leu)
|
|
|
|
NM_173660.5(DOK7):c.331+4_331+5del
|
rs2109336551
|
|
|
NM_173660.5(DOK7):c.332-18T>A
|
|
|
|
NM_173660.5(DOK7):c.355G>A (p.Ala119Thr)
|
rs951094929
|
|
|
NM_173660.5(DOK7):c.364A>T (p.Thr122Ser)
|
|
|
|
NM_173660.5(DOK7):c.379G>A (p.Gly127Ser)
|
|
|
|
NM_173660.5(DOK7):c.383C>G (p.Pro128Arg)
|
|
|
|
NM_173660.5(DOK7):c.394C>A (p.His132Asn)
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rs755692930
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NM_173660.5(DOK7):c.430A>T (p.Ile144Phe)
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NM_173660.5(DOK7):c.43G>A (p.Asp15Asn)
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rs1726072530
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NM_173660.5(DOK7):c.440C>T (p.Ala147Val)
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rs1560212754
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NM_173660.5(DOK7):c.442G>T (p.Val148Phe)
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rs2109343658
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NM_173660.5(DOK7):c.445A>G (p.Thr149Ala)
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rs759723884
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NM_173660.5(DOK7):c.446C>T (p.Thr149Met)
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NM_173660.5(DOK7):c.469C>G (p.Leu157Val)
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rs1727097545
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NM_173660.5(DOK7):c.469C>T (p.Leu157Phe)
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NM_173660.5(DOK7):c.46G>C (p.Gly16Arg)
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rs764824461
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NM_173660.5(DOK7):c.487G>A (p.Val163Met)
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rs746946329
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NM_173660.5(DOK7):c.487G>C (p.Val163Leu)
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NM_173660.5(DOK7):c.493A>G (p.Ser165Gly)
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rs1470827824
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NM_173660.5(DOK7):c.494G>A (p.Ser165Asn)
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NM_173660.5(DOK7):c.518C>G (p.Thr173Ser)
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NM_173660.5(DOK7):c.525T>G (p.Cys175Trp)
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NM_173660.5(DOK7):c.532+4A>C
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NM_173660.5(DOK7):c.534G>T (p.Trp178Cys)
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rs1727716645
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NM_173660.5(DOK7):c.535G>C (p.Ala179Pro)
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rs756146556
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NM_173660.5(DOK7):c.54+34C>T
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rs751188494
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NM_173660.5(DOK7):c.55-12_55-11del
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NM_173660.5(DOK7):c.551T>C (p.Leu184Pro)
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rs1727718542
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NM_173660.5(DOK7):c.559G>C (p.Ala187Pro)
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rs1220205278
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NM_173660.5(DOK7):c.564G>C (p.Glu188Asp)
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rs375631042
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NM_173660.5(DOK7):c.565G>T (p.Gly189Trp)
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rs1727720417
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NM_173660.5(DOK7):c.583C>G (p.Leu195Val)
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NM_173660.5(DOK7):c.588C>G (p.Phe196Leu)
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rs149940009
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NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr)
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rs1553847993
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NM_173660.5(DOK7):c.619A>C (p.Lys207Gln)
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rs1240579533
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NM_173660.5(DOK7):c.625C>A (p.Pro209Thr)
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rs759603846
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NM_173660.5(DOK7):c.638G>C (p.Arg213Pro)
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rs371408752
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NM_173660.5(DOK7):c.638G>T (p.Arg213Leu)
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rs371408752
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NM_173660.5(DOK7):c.652+4C>T
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rs374675986
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NM_173660.5(DOK7):c.652G>A (p.Asp218Asn)
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NM_173660.5(DOK7):c.653-3C>T
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rs767745850
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NM_173660.5(DOK7):c.654C>A (p.Asp218Glu)
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rs1728055459
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NM_173660.5(DOK7):c.656C>G (p.Pro219Arg)
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NM_173660.5(DOK7):c.661C>A (p.Pro221Thr)
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rs377167511
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NM_173660.5(DOK7):c.661C>G (p.Pro221Ala)
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NM_173660.5(DOK7):c.661C>T (p.Pro221Ser)
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rs377167511
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NM_173660.5(DOK7):c.673T>G (p.Ser225Ala)
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NM_173660.5(DOK7):c.685G>A (p.Glu229Lys)
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NM_173660.5(DOK7):c.686A>G (p.Glu229Gly)
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NM_173660.5(DOK7):c.68G>T (p.Trp23Leu)
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rs2109312461
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NM_173660.5(DOK7):c.707T>G (p.Leu236Arg)
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rs2109388893
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NM_173660.5(DOK7):c.713C>T (p.Thr238Ile)
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NM_173660.5(DOK7):c.724G>C (p.Glu242Gln)
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NM_173660.5(DOK7):c.725A>C (p.Glu242Ala)
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NM_173660.5(DOK7):c.727A>G (p.Lys243Glu)
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NM_173660.5(DOK7):c.731G>A (p.Arg244Gln)
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NM_173660.5(DOK7):c.737G>C (p.Ser246Thr)
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rs2109389067
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NM_173660.5(DOK7):c.751G>A (p.Ala251Thr)
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NM_173660.5(DOK7):c.752C>G (p.Ala251Gly)
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NM_173660.5(DOK7):c.752_753delinsTA (p.Ala251Val)
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rs1577172369
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NM_173660.5(DOK7):c.759_767del (p.Arg253_Gly255del)
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rs373384998
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NM_173660.5(DOK7):c.761C>G (p.Pro254Arg)
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rs200407250
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NM_173660.5(DOK7):c.761C>T (p.Pro254Leu)
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rs200407250
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NM_173660.5(DOK7):c.765C>T (p.Gly255=)
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NM_173660.5(DOK7):c.772+4G>A
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NM_173660.5(DOK7):c.772+6G>C
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rs2109389412
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NM_173660.5(DOK7):c.773-1G>A
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rs1268475752
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NM_173660.5(DOK7):c.773-2A>C
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rs1229979805
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NM_173660.5(DOK7):c.773-2A>T
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rs1229979805
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NM_173660.5(DOK7):c.773-8_797del
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NM_173660.5(DOK7):c.776A>C (p.Asp259Ala)
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NM_173660.5(DOK7):c.7G>A (p.Glu3Lys)
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rs763233743
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NM_173660.5(DOK7):c.805G>C (p.Glu269Gln)
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NM_173660.5(DOK7):c.814C>T (p.His272Tyr)
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rs1226413438
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NM_173660.5(DOK7):c.821A>C (p.Asp274Ala)
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rs1372127333
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NM_173660.5(DOK7):c.856G>A (p.Glu286Lys)
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rs1577181909
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NM_173660.5(DOK7):c.856G>C (p.Glu286Gln)
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rs1577181909
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NM_173660.5(DOK7):c.85C>G (p.Pro29Ala)
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NM_173660.5(DOK7):c.867GTC[1] (p.Ser291del)
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rs749831515
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NM_173660.5(DOK7):c.868T>G (p.Ser290Ala)
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NM_173660.5(DOK7):c.869C>T (p.Ser290Leu)
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NM_173660.5(DOK7):c.875C>T (p.Ala292Val)
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rs761676338
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NM_173660.5(DOK7):c.881C>A (p.Thr294Lys)
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rs151079259
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NM_173660.5(DOK7):c.881C>T (p.Thr294Met)
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NM_173660.5(DOK7):c.886_887inv (p.Gln296Trp)
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NM_173660.5(DOK7):c.887A>T (p.Gln296Leu)
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rs6811423
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NM_173660.5(DOK7):c.889G>A (p.Glu297Lys)
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rs1728590424
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NM_173660.5(DOK7):c.893G>A (p.Gly298Glu)
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rs1553850025
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NM_173660.5(DOK7):c.919G>C (p.Ala307Pro)
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rs150415034
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NM_173660.5(DOK7):c.937G>A (p.Gly313Ser)
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rs1313698372
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NM_173660.5(DOK7):c.94G>C (p.Val32Leu)
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NM_173660.5(DOK7):c.956C>G (p.Pro319Arg)
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rs376334067
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NM_173660.5(DOK7):c.97G>A (p.Ala33Thr)
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rs1425852835
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NM_173660.5(DOK7):c.983A>G (p.Gln328Arg)
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rs752168445
|
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NM_173660.5(DOK7):c.987G>C (p.Glu329Asp)
|
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NM_173660.5(DOK7):c.98C>T (p.Ala33Val)
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Single allele
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