NM_004934.5(CDH18):c.991T>C (p.Leu331=)
|
rs17285716
|
0.14440
|
NM_144670.6(A2ML1):c.3676_3677del (p.Ala1226fs)
|
rs144686314
|
0.03504
|
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)
|
rs61751489
|
0.01849
|
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)
|
rs4986933
|
0.00253
|
NM_144670.6(A2ML1):c.2713-8C>A
|
rs184386564
|
0.00216
|
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)
|
rs146601373
|
0.00201
|
NM_002582.4(PARN):c.840+6T>C
|
rs59687658
|
0.00184
|
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu)
|
rs117213221
|
0.00051
|
NM_002850.4(PTPRS):c.2552G>T (p.Arg851Leu)
|
rs199604489
|
0.00037
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_001190274.2(FBXO11):c.2491A>G (p.Ser831Gly)
|
rs200771165
|
0.00024
|
NM_032656.4(DHX37):c.1399C>G (p.Leu467Val)
|
rs149331610
|
0.00022
|
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly)
|
rs201662623
|
0.00021
|
NM_002582.4(PARN):c.1493G>A (p.Ser498Asn)
|
rs200471459
|
0.00020
|
NM_012186.3(FOXE3):c.466G>A (p.Asp156Asn)
|
rs202086896
|
0.00020
|
NM_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
NM_144670.6(A2ML1):c.2189G>A (p.Arg730His)
|
rs200346409
|
0.00009
|
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp)
|
rs387906874
|
0.00008
|
NM_002582.4(PARN):c.1006-11G>A
|
rs746114163
|
0.00007
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys)
|
rs368812830
|
0.00006
|
NM_144670.6(A2ML1):c.971-8C>T
|
rs780868782
|
0.00006
|
NM_002582.4(PARN):c.168G>C (p.Lys56Asn)
|
rs375964590
|
0.00005
|
NM_001394998.1(TANC2):c.2486G>A (p.Arg829His)
|
rs775421108
|
0.00004
|
NM_002582.4(PARN):c.19A>C (p.Asn7His)
|
rs1371498176
|
0.00004
|
NM_002850.4(PTPRS):c.3343G>A (p.Ala1115Thr)
|
rs769925793
|
0.00004
|
NM_005633.4(SOS1):c.2156G>C (p.Gly719Ala)
|
rs200794965
|
0.00004
|
NM_006133.3(DAGLA):c.3049G>C (p.Asp1017His)
|
rs199764983
|
0.00004
|
NM_001256470.2(PLEKHA5):c.1249A>G (p.Met417Val)
|
rs765143663
|
0.00002
|
NM_001256470.2(PLEKHA5):c.3119A>T (p.Lys1040Met)
|
rs368055588
|
0.00002
|
NM_005921.2(MAP3K1):c.548G>A (p.Arg183Gln)
|
rs1454725137
|
0.00002
|
NM_024939.3(ESRP2):c.1523C>T (p.Ser508Leu)
|
rs143677348
|
0.00002
|
NM_144670.6(A2ML1):c.2329G>A (p.Gly777Arg)
|
rs201288888
|
0.00002
|
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter)
|
rs267607544
|
0.00002
|
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe)
|
rs200283837
|
0.00001
|
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr)
|
rs876657970
|
0.00001
|
NM_001200.4(BMP2):c.178A>C (p.Met60Leu)
|
rs773113395
|
0.00001
|
NM_001256470.2(PLEKHA5):c.1660G>A (p.Gly554Arg)
|
rs770689652
|
0.00001
|
NM_001267550.2(TTN):c.72669del (p.Asp24224fs)
|
rs727504531
|
0.00001
|
NM_001376.5(DYNC1H1):c.10313G>A (p.Arg3438Gln)
|
rs1375729860
|
0.00001
|
NM_001394062.1(MACF1):c.22313G>A (p.Arg7438Gln)
|
rs1218844508
|
0.00001
|
NM_001394998.1(TANC2):c.2500C>T (p.Arg834Cys)
|
rs1282488329
|
0.00001
|
NM_001394998.1(TANC2):c.3104G>A (p.Arg1035Gln)
|
rs374131489
|
0.00001
|
NM_002473.6(MYH9):c.3682G>A (p.Glu1228Lys)
|
rs746956415
|
0.00001
|
NM_002582.4(PARN):c.178-3C>T
|
rs1394966197
|
0.00001
|
NM_002667.5(PLN):c.73C>T (p.Arg25Cys)
|
rs761056344
|
0.00001
|
NM_004415.4(DSP):c.8477G>A (p.Arg2826His)
|
rs548754771
|
0.00001
|
NM_005359.6(SMAD4):c.70A>G (p.Met24Val)
|
rs876659391
|
0.00001
|
NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr)
|
rs876659967
|
0.00001
|
NM_005633.4(SOS1):c.1820T>C (p.Ile607Thr)
|
rs758699499
|
0.00001
|
NM_005633.4(SOS1):c.2728G>C (p.Asp910His)
|
rs369277679
|
0.00001
|
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys)
|
rs886041241
|
0.00001
|
NM_014918.5(CHSY1):c.779G>A (p.Arg260Gln)
|
rs1280894999
|
0.00001
|
NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val)
|
rs1166797338
|
0.00001
|
NM_024939.3(ESRP2):c.749G>A (p.Arg250Gln)
|
rs755729355
|
0.00001
|
NM_032578.4(MYPN):c.308A>T (p.Asp103Val)
|
rs758026056
|
0.00001
|
NM_133443.4(GPT2):c.844A>G (p.Ile282Val)
|
rs377334484
|
0.00001
|
NM_170707.4(LMNA):c.1163G>A (p.Arg388His)
|
rs267607576
|
0.00001
|
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)
|
rs58672172
|
0.00001
|
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr)
|
rs267607574
|
0.00001
|
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)
|
rs1163486953
|
|
NM_000138.5(FBN1):c.6596G>A (p.Gly2199Asp)
|
rs1566895247
|
|
NM_000138.5(FBN1):c.8121C>A (p.Asp2707Glu)
|
rs1566889147
|
|
NM_000260.4(MYO7A):c.4107G>T (p.Gln1369His)
|
rs1565440220
|
|
NM_000398.7(CYB5R3):c.437G>C (p.Ser146Thr)
|
rs1928397782
|
|
NM_000430.4(PAFAH1B1):c.655T>G (p.Trp219Gly)
|
rs2069200834
|
|
NM_000430.4(PAFAH1B1):c.743T>C (p.Leu248Pro)
|
rs2069227815
|
|
NM_001005182.2(OR6C1):c.24del (p.Glu9fs)
|
rs869294408
|
|
NM_001005516.1(OR5K3):c.904del (p.Ile302fs)
|
rs79045298
|
|
NM_001005517.1(OR5K4):c.901dup (p.Ile301fs)
|
rs11288615
|
|
NM_001042492.3(NF1):c.5816T>C (p.Ile1939Thr)
|
rs1304057833
|
|
NM_001085458.2(CTNND1):c.1687C>G (p.Gln563Glu)
|
rs2062434410
|
|
NM_001085458.2(CTNND1):c.1721A>G (p.Lys574Arg)
|
rs2062435587
|
|
NM_001099737.3(WDR83):c.379G>C (p.Gly127Arg)
|
rs749052560
|
|
NM_001134363.3(RBM20):c.2205G>A (p.Glu735=)
|
rs1844785808
|
|
NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe)
|
rs1560070780
|
|
NM_001145710.2(FAM228B):c.907del (p.Gln303fs)
|
rs113322110
|
|
NM_001186.4(BACH1):c.1724G>A (p.Arg575His)
|
rs1569017478
|
|
NM_001256470.2(PLEKHA5):c.3044T>G (p.Val1015Gly)
|
rs958331700
|
|
NM_001267550.2(TTN):c.73568del (p.Pro24523fs)
|
rs1559415567
|
|
NM_001281956.2(CSMD2):c.2671A>G (p.Ile891Val)
|
rs756789191
|
|
NM_001287491.2(TET3):c.3265G>A (p.Val1089Met)
|
rs1174857008
|
|
NM_001329630.2(PLEKHA7):c.53G>T (p.Gly18Val)
|
rs1865545338
|
|
NM_001329630.2(PLEKHA7):c.643G>A (p.Val215Met)
|
rs1028264032
|
|
NM_001329630.2(PLEKHA7):c.914A>T (p.Asn305Ile)
|
rs146091349
|
|
NM_001376.5(DYNC1H1):c.10420C>T (p.Arg3474Trp)
|
rs757725348
|
|
NM_001376.5(DYNC1H1):c.10888G>A (p.Gly3630Ser)
|
rs2048578300
|
|
NM_001376.5(DYNC1H1):c.3161G>C (p.Trp1054Ser)
|
rs2048038170
|
|
NM_001376.5(DYNC1H1):c.4808G>C (p.Arg1603Thr)
|
rs1555409418
|
|
NM_001376.5(DYNC1H1):c.9954G>T (p.Lys3318Asn)
|
rs2048518511
|
|
NM_001377534.1(DYNLT4):c.631G>C (p.Ala211Pro)
|
rs1298092277
|
|
NM_001387994.1(BAG6):c.3415C>T (p.Arg1139Ter)
|
rs1281308977
|
|
NM_001394998.1(TANC2):c.2603C>T (p.Ala868Val)
|
rs2047545401
|
|
NM_001394998.1(TANC2):c.5318A>G (p.His1773Arg)
|
rs2049010059
|
|
NM_001614.5(ACTG1):c.535G>T (p.Asp179Tyr)
|
rs2031766655
|
|
NM_002425.3(MMP10):c.32_33del (p.Cys11fs)
|
rs535864157
|
|
NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn)
|
rs878854502
|
|
NM_002582.4(PARN):c.459G>C (p.Ala153=)
|
rs960463679
|
|
NM_002582.4(PARN):c.703-11_703-10del
|
rs1185087862
|
|
NM_004360.5(CDH1):c.1198G>A (p.Asp400Asn)
|
rs1960893142
|
|
NM_004360.5(CDH1):c.1926C>A (p.Tyr642Ter)
|
rs1961172043
|
|
NM_004360.5(CDH1):c.779C>T (p.Pro260Leu)
|
rs1960783816
|
|
NM_004360.5(CDH1):c.895G>A (p.Ala299Thr)
|
rs1960837744
|
|
NM_004999.4(MYO6):c.2751dup (p.Gln918fs)
|
rs551348450
|
|
NM_005051.3(QARS1):c.1412G>A (p.Cys471Tyr)
|
rs1575400316
|
|
NM_005427.4(TP73):c.901G>A (p.Asp301Asn)
|
rs986713005
|
|
NM_005633.4(SOS1):c.2230A>G (p.Arg744Gly)
|
rs1669494952
|
|
NM_005633.4(SOS1):c.3601C>T (p.Arg1201Trp)
|
rs752395541
|
|
NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr)
|
rs587784497
|
|
NM_006444.3(SMC2):c.2763A>C (p.Lys921Asn)
|
rs1834436764
|
|
NM_015021.3(ZNF292):c.1858G>T (p.Glu620Ter)
|
rs1775159559
|
|
NM_015021.3(ZNF292):c.1897C>T (p.Arg633Ter)
|
rs1775161294
|
|
NM_015021.3(ZNF292):c.1910del (p.Lys637fs)
|
rs1775161900
|
|
NM_015021.3(ZNF292):c.3053dup (p.Gln1019fs)
|
rs1775236367
|
|
NM_015021.3(ZNF292):c.5374_5378del (p.Asn1792fs)
|
rs1775403177
|
|
NM_015021.3(ZNF292):c.6578A>C (p.Tyr2193Ser)
|
rs1554208945
|
|
NM_015021.3(ZNF292):c.6661_6664del (p.Leu2221fs)
|
rs1775494843
|
|
NM_015021.3(ZNF292):c.6935dup (p.Ser2313fs)
|
rs1775514251
|
|
NM_015021.3(ZNF292):c.7062_7064del (p.Asn2354del)
|
rs1775529808
|
|
NM_015021.3(ZNF292):c.7304_7308del (p.Val2435fs)
|
rs1775548411
|
|
NM_015130.3(TBC1D9):c.3535C>T (p.His1179Tyr)
|
rs1578810332
|
|
NM_015465.5(GEMIN5):c.2519_2522del (p.Ile840fs)
|
rs769616395
|
|
NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg)
|
rs1842918022
|
|
NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg)
|
rs1558337060
|
|
NM_020159.5(SMARCAD1):c.2557T>A (p.Ser853Thr)
|
rs1753894795
|
|
NM_024939.3(ESRP2):c.1636GAG[1] (p.Glu547del)
|
rs780935292
|
|
NM_032108.4(SEMA6B):c.1834G>A (p.Val612Met)
|
rs1279041694
|
|
NM_032597.5(MS4A14):c.167_168dup (p.Val57fs)
|
rs869040615
|
|
NM_144670.6(A2ML1):c.1308A>C (p.Gln436His)
|
rs780743143
|
|
NM_144670.6(A2ML1):c.164C>T (p.Thr55Ile)
|
rs999028234
|
|
NM_144670.6(A2ML1):c.1683G>C (p.Gln561His)
|
rs1565476223
|
|
NM_144670.6(A2ML1):c.2012T>C (p.Leu671Pro)
|
rs1465018225
|
|
NM_144670.6(A2ML1):c.2228C>T (p.Pro743Leu)
|
rs1565479896
|
|
NM_144670.6(A2ML1):c.2545G>T (p.Asp849Tyr)
|
rs1408810942
|
|
NM_144670.6(A2ML1):c.2971G>C (p.Ala991Pro)
|
rs1565484901
|
|
NM_144670.6(A2ML1):c.3491C>T (p.Ala1164Val)
|
rs1565487941
|
|
NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs)
|
rs267607577
|
|
NM_178012.5(TUBB2B):c.73A>G (p.Ser25Gly)
|
rs1757291106
|
|
NM_178012.5(TUBB2B):c.747C>A (p.Asp249Glu)
|
rs1757274789
|
|
NM_181536.2(PKD1L3):c.3695_3698del (p.Thr1232fs)
|
rs149635567
|
|
NM_183375.5(PRSS48):c.127_131del (p.Val43fs)
|
rs77216366
|
|