NM_002386.4(MC1R):c.880G>C (p.Asp294His)
|
rs1805009
|
0.01121
|
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)
|
rs143044921
|
0.00430
|
NM_004252.5(NHERF1):c.673G>A (p.Glu225Lys)
|
rs119486097
|
0.00351
|
NM_002461.3(MVD):c.70+5G>A
|
rs200035262
|
0.00306
|
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val)
|
rs148976897
|
0.00298
|
NM_001039362.2(ATP6V1C2):c.503T>C (p.Ile168Thr)
|
rs150980575
|
0.00274
|
NM_001040694.2(INCENP):c.2415G>C (p.Gln805His)
|
rs61893682
|
0.00255
|
NM_002253.4(KDR):c.2312C>T (p.Thr771Met)
|
rs149745504
|
0.00198
|
NM_018384.5(GIMAP5):c.611T>C (p.Leu204Pro)
|
rs72650695
|
0.00189
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_181712.5(KANK4):c.2401T>C (p.Tyr801His)
|
rs145623004
|
0.00133
|
NM_213607.3(CCDC103):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys)
|
rs139480342
|
0.00068
|
NM_015102.5(NPHP4):c.3983C>T (p.Pro1328Leu)
|
rs199583130
|
0.00068
|
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)
|
rs137852949
|
0.00066
|
NM_207361.6(FREM2):c.7535G>A (p.Arg2512His)
|
rs61978626
|
0.00058
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_181426.2(CCDC39):c.1167+1261A>G
|
rs577069249
|
0.00051
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00050
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_000341.4(SLC3A1):c.592del (p.Ala198fs)
|
rs778000327
|
0.00028
|
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter)
|
rs201812542
|
0.00022
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln)
|
rs139861201
|
0.00021
|
NM_182920.2(ADAMTS9):c.194C>G (p.Thr65Arg)
|
rs192420947
|
0.00021
|
NM_006556.4(PMVK):c.329G>A (p.Arg110Gln)
|
rs140728783
|
0.00020
|
NM_002386.4(MC1R):c.512C>G (p.Ala171Gly)
|
rs373224783
|
0.00019
|
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg)
|
rs376131751
|
0.00018
|
NM_001272046.2(VWA2):c.1336C>T (p.Arg446Cys)
|
rs148731211
|
0.00016
|
NM_006556.4(PMVK):c.79G>T (p.Glu27Ter)
|
rs373000976
|
0.00016
|
NM_005245.4(FAT1):c.5671C>A (p.Pro1891Thr)
|
rs185078412
|
0.00015
|
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val)
|
rs145473779
|
0.00014
|
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)
|
rs119473033
|
0.00013
|
NM_014669.5(NUP93):c.575A>G (p.Tyr192Cys)
|
rs201924382
|
0.00013
|
NM_014967.5(FAN1):c.2774_2775del (p.Leu925fs)
|
rs765970053
|
0.00013
|
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)
|
rs78853309
|
0.00011
|
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile)
|
rs376670171
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter)
|
rs201740530
|
0.00010
|
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)
|
rs267606919
|
0.00010
|
NM_032756.4(HPDL):c.859T>C (p.Tyr287His)
|
rs777360560
|
0.00010
|
NM_033380.3(COL4A5):c.899C>T (p.Pro300Leu)
|
rs375377003
|
0.00010
|
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln)
|
rs140772904
|
0.00009
|
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu)
|
rs141944551
|
0.00009
|
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys)
|
rs121918608
|
0.00009
|
NM_001079675.5(ETV4):c.1244G>A (p.Arg415His)
|
rs373515634
|
0.00009
|
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)
|
rs376478015
|
0.00009
|
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)
|
rs121918232
|
0.00009
|
NM_181426.2(CCDC39):c.610-2A>G
|
rs756235547
|
0.00009
|
NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala)
|
rs542768500
|
0.00008
|
NM_177400.3(NKX6-2):c.541C>G (p.Leu181Val)
|
rs369901030
|
0.00008
|
NM_001845.6(COL4A1):c.2641A>G (p.Met881Val)
|
rs775563545
|
0.00007
|
NM_207361.6(FREM2):c.3661C>T (p.Pro1221Ser)
|
rs143192660
|
0.00007
|
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)
|
rs121908525
|
0.00006
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys)
|
rs782056386
|
0.00006
|
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)
|
rs200693106
|
0.00006
|
NM_001364171.2(ODAD1):c.448C>T (p.Arg150Ter)
|
rs752269093
|
0.00006
|
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)
|
rs200901816
|
0.00006
|
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)
|
rs753614861
|
0.00006
|
NM_000486.6(AQP2):c.782C>T (p.Ser261Leu)
|
rs376000406
|
0.00005
|
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)
|
rs149739570
|
0.00005
|
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr)
|
rs190101048
|
0.00005
|
NM_025074.7(FRAS1):c.3998T>C (p.Val1333Ala)
|
rs773232259
|
0.00005
|
NM_032756.4(HPDL):c.1013T>C (p.Leu338Pro)
|
rs145372387
|
0.00005
|
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)
|
rs121908523
|
0.00004
|
NM_001128126.3(AP4S1):c.43C>T (p.Arg15Ter)
|
rs754944359
|
0.00004
|
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter)
|
rs374894037
|
0.00004
|
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)
|
rs529495094
|
0.00004
|
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu)
|
rs372750171
|
0.00004
|
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn)
|
rs141395813
|
0.00004
|
NM_003052.5(SLC34A1):c.644+1G>A
|
rs201304511
|
0.00004
|
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)
|
rs146262009
|
0.00004
|
NM_004722.4(AP4M1):c.680G>A (p.Arg227His)
|
rs371712994
|
0.00004
|
NM_005245.4(FAT1):c.857A>G (p.Asn286Ser)
|
rs201488687
|
0.00004
|
NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser)
|
rs763615602
|
0.00004
|
NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter)
|
rs777248758
|
0.00003
|
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs)
|
rs754698253
|
0.00003
|
NM_001369.3(DNAH5):c.5710-2A>G
|
rs548521732
|
0.00003
|
NM_001379180.1(ESRRB):c.599G>A (p.Arg200His)
|
rs752185665
|
0.00003
|
NM_002968.3(SALL1):c.703G>A (p.Ala235Thr)
|
rs761053549
|
0.00003
|
NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile)
|
rs201331677
|
0.00003
|
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)
|
rs143649022
|
0.00003
|
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter)
|
rs369459721
|
0.00003
|
NM_015891.3(CDC40):c.1505T>G (p.Phe502Cys)
|
rs779945821
|
0.00003
|
NM_016166.3(PIAS1):c.317C>T (p.Ser106Leu)
|
rs774456004
|
0.00003
|
NM_017752.3(TBC1D8B):c.1030C>T (p.Arg344Ter)
|
rs749688361
|
0.00003
|
NM_021628.3(ALOXE3):c.1630C>T (p.Gln544Ter)
|
rs781631629
|
0.00003
|
NM_032756.4(HPDL):c.3G>C (p.Met1Ile)
|
rs777607274
|
0.00003
|
NM_032756.4(HPDL):c.847C>T (p.Pro283Ser)
|
rs751574835
|
0.00003
|
NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp)
|
rs201173498
|
0.00003
|
NM_000687.4(AHCY):c.266C>T (p.Ala89Val)
|
rs755222515
|
0.00002
|
NM_001128126.3(AP4S1):c.139-2A>G
|
rs758748011
|
0.00002
|
NM_001128126.3(AP4S1):c.295-3C>A
|
rs185246578
|
0.00002
|
NM_001253852.3(AP4B1):c.1345A>T (p.Arg449Ter)
|
rs142209254
|
0.00002
|
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln)
|
rs149705131
|
0.00002
|
NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter)
|
rs767595964
|
0.00002
|
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)
|
rs372118787
|
0.00002
|
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter)
|
rs747900131
|
0.00002
|
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser)
|
rs747585517
|
0.00002
|
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys)
|
rs751220553
|
0.00002
|
NM_001845.6(COL4A1):c.3671C>T (p.Pro1224Leu)
|
rs775810147
|
0.00002
|
NM_002292.4(LAMB2):c.395C>T (p.Ala132Val)
|
rs766482429
|
0.00002
|
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)
|
rs386833880
|
0.00002
|
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)
|
rs372855769
|
0.00002
|
NM_007347.5(AP4E1):c.869+1G>A
|
rs868844377
|
0.00002
|
NM_015156.4(RCOR1):c.446-3C>T
|
rs754404879
|
0.00002
|
NM_016059.5(PPIL1):c.280+1G>A
|
rs374639625
|
0.00002
|
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu)
|
rs118203956
|
0.00002
|
NM_032130.3(FAM186B):c.506-2A>G
|
rs549662742
|
0.00002
|
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter)
|
rs797044992
|
0.00002
|
NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser)
|
rs145591298
|
0.00002
|
NM_000064.4(C3):c.4534C>T (p.Arg1512Cys)
|
rs1408701335
|
0.00001
|
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)
|
rs868002181
|
0.00001
|
NM_000204.5(CFI):c.1A>G (p.Met1Val)
|
rs770655669
|
0.00001
|
NM_000338.3(SLC12A1):c.769G>A (p.Gly257Ser)
|
rs896545456
|
0.00001
|
NM_001039111.3(TRIM71):c.2450G>A (p.Arg817Gln)
|
rs1045177462
|
0.00001
|
NM_001080508.3(TBX18):c.1802A>G (p.Gln601Arg)
|
rs748043014
|
0.00001
|
NM_001099922.3(ALG13):c.2272G>T (p.Val758Phe)
|
rs1157517282
|
0.00001
|
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe)
|
rs138808921
|
0.00001
|
NM_001128126.3(AP4S1):c.17T>C (p.Leu6Pro)
|
rs1335804396
|
0.00001
|
NM_001128126.3(AP4S1):c.294+1G>T
|
rs886041127
|
0.00001
|
NM_001253852.3(AP4B1):c.1115-2A>G
|
rs1210851910
|
0.00001
|
NM_001253852.3(AP4B1):c.114-2A>G
|
rs879255396
|
0.00001
|
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)
|
rs776976178
|
0.00001
|
NM_001253852.3(AP4B1):c.409A>G (p.Arg137Gly)
|
rs1041267828
|
0.00001
|
NM_001271049.2(CFAP221):c.2318+1G>A
|
rs759274091
|
0.00001
|
NM_001291303.3(FAT4):c.9279A>C (p.Gln3093His)
|
rs769424345
|
0.00001
|
NM_001291303.3(FAT4):c.9313A>G (p.Ser3105Gly)
|
rs764097811
|
0.00001
|
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter)
|
rs760104757
|
0.00001
|
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)
|
rs771663107
|
0.00001
|
NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter)
|
rs773711154
|
0.00001
|
NM_001369.3(DNAH5):c.6335_6336insT (p.Gln2112fs)
|
rs779506456
|
0.00001
|
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp)
|
rs868151020
|
0.00001
|
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter)
|
rs375053470
|
0.00001
|
NM_001369.3(DNAH5):c.8010+3A>G
|
rs748171209
|
0.00001
|
NM_001369.3(DNAH5):c.8147T>C (p.Ile2716Thr)
|
rs746501395
|
0.00001
|
NM_001369.3(DNAH5):c.832del (p.Ala278fs)
|
rs727502977
|
0.00001
|
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter)
|
rs560398270
|
0.00001
|
NM_001369.3(DNAH5):c.9637del (p.Ala3213fs)
|
rs1305797678
|
0.00001
|
NM_001378189.1(CFAP57):c.1762C>T (p.Arg588Ter)
|
rs369556067
|
0.00001
|
NM_001453.3(FOXC1):c.1090C>T (p.Pro364Ser)
|
rs867806300
|
0.00001
|
NM_001453.3(FOXC1):c.176G>T (p.Gly59Val)
|
rs1762519001
|
0.00001
|
NM_001845.6(COL4A1):c.3704A>G (p.Lys1235Arg)
|
rs781655700
|
0.00001
|
NM_001845.6(COL4A1):c.4717G>A (p.Gly1573Arg)
|
rs759600848
|
0.00001
|
NM_002292.4(LAMB2):c.1731+1G>A
|
rs755787013
|
0.00001
|
NM_002292.4(LAMB2):c.4573C>T (p.Gln1525Ter)
|
rs376983109
|
0.00001
|
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)
|
rs121912488
|
0.00001
|
NM_002968.3(SALL1):c.1666G>A (p.Gly556Ser)
|
rs776856200
|
0.00001
|
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro)
|
rs142772770
|
0.00001
|
NM_003285.3(TNR):c.1189G>A (p.Ala397Thr)
|
rs750577544
|
0.00001
|
NM_003285.3(TNR):c.3574C>T (p.Arg1192Trp)
|
rs1571308125
|
0.00001
|
NM_004525.3(LRP2):c.2639+1G>A
|
rs746752313
|
0.00001
|
NM_004525.3(LRP2):c.9575G>A (p.Arg3192Gln)
|
rs753667280
|
0.00001
|
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)
|
rs386833863
|
0.00001
|
NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter)
|
rs1562912305
|
0.00001
|
NM_004722.4(AP4M1):c.1137+1G>T
|
rs770705832
|
0.00001
|
NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys)
|
rs387906838
|
0.00001
|
NM_004722.4(AP4M1):c.802C>T (p.Arg268Ter)
|
rs780030221
|
0.00001
|
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg)
|
rs754498075
|
0.00001
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
NM_005245.4(FAT1):c.3008C>T (p.Ala1003Val)
|
rs369363545
|
0.00001
|
NM_005245.4(FAT1):c.4517G>A (p.Arg1506His)
|
rs570583897
|
0.00001
|
NM_005540.3(INPP5B):c.152C>T (p.Ala51Val)
|
rs773387490
|
0.00001
|
NM_012203.2(GRHPR):c.404+5G>A
|
rs757796926
|
0.00001
|
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp)
|
rs119473038
|
0.00001
|
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp)
|
rs1480919035
|
0.00001
|
NM_014669.5(NUP93):c.2017C>T (p.Arg673Trp)
|
rs1166462755
|
0.00001
|
NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter)
|
rs1774516234
|
0.00001
|
NM_016059.5(PPIL1):c.233A>G (p.Tyr78Cys)
|
rs1774173253
|
0.00001
|
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala)
|
rs553128312
|
0.00001
|
NM_016059.5(PPIL1):c.392G>A (p.Arg131Gln)
|
rs765668519
|
0.00001
|
NM_017950.4(CCDC40):c.1093G>T (p.Glu365Ter)
|
rs1434356376
|
0.00001
|
NM_018384.5(GIMAP5):c.140T>C (p.Ile47Thr)
|
rs1797607693
|
0.00001
|
NM_018384.5(GIMAP5):c.326C>T (p.Pro109Leu)
|
rs927435790
|
0.00001
|
NM_025074.7(FRAS1):c.8131T>C (p.Tyr2711His)
|
rs541053205
|
0.00001
|
NM_032120.4(RBM48):c.835A>G (p.Thr279Ala)
|
rs372607453
|
0.00001
|
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp)
|
rs1391712320
|
0.00001
|
NM_032756.4(HPDL):c.503G>A (p.Cys168Tyr)
|
rs1186696459
|
0.00001
|
NM_032756.4(HPDL):c.788C>T (p.Thr263Met)
|
rs116004018
|
0.00001
|
NM_032756.4(HPDL):c.797T>C (p.Ile266Thr)
|
rs769373772
|
0.00001
|
NM_032756.4(HPDL):c.835C>T (p.Gln279Ter)
|
rs774014588
|
0.00001
|
NM_138691.3(TMC1):c.1334G>A (p.Arg445His)
|
rs760532554
|
0.00001
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
NM_177400.3(NKX6-2):c.301C>A (p.Arg101Ser)
|
rs1207105923
|
0.00001
|
NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter)
|
rs375839864
|
0.00001
|
NM_181426.2(CCDC39):c.1665+1G>A
|
rs753580394
|
0.00001
|
NM_212482.4(FN1):c.7379T>C (p.Ile2460Thr)
|
rs2053446114
|
0.00001
|
NM_213607.3(CCDC103):c.144-1G>A
|
rs747091524
|
0.00001
|
NC_000005.9:g.154735732_155604899dup
|
|
|
NC_000005.9:g.155599390_155755985dup
|
|
|
NM_000030.3(AGXT):c.1079G>C (p.Arg360Pro)
|
rs180177161
|
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)
|
rs180177227
|
|
NM_000030.3(AGXT):c.863G>A (p.Trp288Ter)
|
rs2106431706
|
|
NM_000069.3(CACNA1S):c.1678G>T (p.Ala560Ser)
|
rs763794604
|
|
NM_000089.4(COL1A2):c.2027G>A (p.Gly676Asp)
|
rs66883877
|
|
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs)
|
rs754706338
|
|
NM_000169.3(GLA):c.504A>C (p.Lys168Asn)
|
rs2147477422
|
|
NM_000179.3(MSH6):c.3822dup (p.Cys1275fs)
|
rs1553333346
|
|
NM_000214.3(JAG1):c.1313G>A (p.Cys438Tyr)
|
rs1600184363
|
|
NM_000214.3(JAG1):c.2092_2093insG (p.Lys698fs)
|
rs1600181733
|
|
NM_000214.3(JAG1):c.2638T>C (p.Cys880Arg)
|
rs756911979
|
|
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter)
|
rs1555827789
|
|
NM_000214.3(JAG1):c.2956_2957dup (p.Leu986fs)
|
rs2122595849
|
|
NM_000214.3(JAG1):c.439+1G>A
|
rs863223648
|
|
NM_000264.5(PTCH1):c.1503+3A>G
|
rs878853846
|
|
NM_000264.5(PTCH1):c.1991_1997del (p.Leu664fs)
|
rs1588574984
|
|
NM_000264.5(PTCH1):c.456_457del (p.Met152fs)
|
rs1588622713
|
|
NM_000276.4(OCRL):c.187_199+449del
|
rs1556338810
|
|
NM_000278.5(PAX2):c.254G>T (p.Gly85Val)
|
rs2133836347
|
|
NM_000278.5(PAX2):c.275C>T (p.Thr92Met)
|
rs1845411121
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
NM_000290.4(PGAM2):c.637G>A (p.Gly213Arg)
|
rs750422335
|
|
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)
|
rs121908545
|
|
NM_000338.3(SLC12A1):c.1163del (p.Phe388fs)
|
rs779588655
|
|
NM_000338.3(SLC12A1):c.1424G>A (p.Cys475Tyr)
|
rs1555466999
|
|
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys)
|
rs58852768
|
|
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
|
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro)
|
rs2147545592
|
|
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)
|
rs397517920
|
|
NM_000503.6(EYA1):c.966+1G>C
|
rs2128951565
|
|
NM_000540.3(RYR1):c.179A>G (p.Asp60Gly)
|
rs1555762532
|
|
NM_001012759.3(CTU2):c.1399C>T (p.Arg467Cys)
|
rs139862860
|
|
NM_001034853.2(RPGR):c.1059+1del
|
rs2147238385
|
|
NM_001039111.3(TRIM71):c.1886G>A (p.Arg629His)
|
rs1575362239
|
|
NM_001040142.2(SCN2A):c.4913G>C (p.Arg1638Pro)
|
rs1702006258
|
|
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln)
|
rs794727444
|
|
NM_001042492.3(NF1):c.1260+5G>A
|
rs1060500253
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.4577+1G>A
|
rs1279529138
|
|
NM_001042492.3(NF1):c.5227G>C (p.Ala1743Pro)
|
rs878853900
|
|
NM_001077418.3(TMEM231):c.119T>G (p.Leu40Arg)
|
rs1567441193
|
|
NM_001080508.3(TBX18):c.1010del (p.Gly337fs)
|
rs869320679
|
|
NM_001099922.3(ALG13):c.241G>A (p.Ala81Thr)
|
rs1064796372
|
|
NM_001099922.3(ALG13):c.2458-15_2486del
|
rs770762084
|
|
NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val)
|
rs2148407095
|
|
NM_001099922.3(ALG13):c.3013C>T (p.Pro1005Ser)
|
rs1945385727
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
NM_001101.5(ACTB):c.331A>G (p.Asn111Asp)
|
rs2128241389
|
|
NM_001101.5(ACTB):c.411G>T (p.Gln137His)
|
rs1388870915
|
|
NM_001101.5(ACTB):c.436G>A (p.Gly146Ser)
|
rs2128241304
|
|
NM_001101.5(ACTB):c.437G>C (p.Gly146Ala)
|
rs2128241303
|
|
NM_001101.5(ACTB):c.439C>A (p.Arg147Ser)
|
rs2128241302
|
|
NM_001127898.4(CLCN5):c.1938del (p.Phe646fs)
|
rs2147605760
|
|
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter)
|
rs387906970
|
|
NM_001128126.3(AP4S1):c.229G>T (p.Glu77Ter)
|
rs568176223
|
|
NM_001128126.3(AP4S1):c.239_240insG (p.Ile80fs)
|
rs2139067696
|
|
NM_001128126.3(AP4S1):c.49dup (p.Ser17fs)
|
rs2139569112
|
|
NM_001130438.3(SPTAN1):c.3156-2A>G
|
rs2131341713
|
|
NM_001142966.3(GREB1L):c.4276G>A (p.Val1426Ile)
|
rs2036991057
|
|
NM_001142966.3(GREB1L):c.5068G>A (p.Val1690Met)
|
rs1555663997
|
|
NM_001167623.2(CACNA1C):c.1213A>G (p.Ser405Gly)
|
rs2154577345
|
|
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln)
|
rs1191455921
|
|
NM_001205293.3(CACNA1E):c.1042G>C (p.Gly348Arg)
|
rs2102063243
|
|
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)
|
rs886039323
|
|
NM_001205293.3(CACNA1E):c.1807A>C (p.Ile603Leu)
|
rs778291283
|
|
NM_001205293.3(CACNA1E):c.2069G>A (p.Gly690Asp)
|
rs1361083258
|
|
NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser)
|
rs869312920
|
|
NM_001205293.3(CACNA1E):c.2098G>A (p.Ala700Thr)
|
rs2102499747
|
|
NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val)
|
rs1558308998
|
|
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)
|
rs12131800
|
|
NM_001205293.3(CACNA1E):c.4264A>T (p.Ile1422Phe)
|
rs2102689621
|
|
NM_001205293.3(CACNA1E):c.4274C>A (p.Thr1425Asn)
|
rs2102689660
|
|
NM_001205293.3(CACNA1E):c.4288G>A (p.Gly1430Arg)
|
rs1553345844
|
|
NM_001205293.3(CACNA1E):c.5159C>G (p.Ala1720Gly)
|
rs2102795834
|
|
NM_001205293.3(CACNA1E):c.683T>C (p.Leu228Pro)
|
rs1553286282
|
|
NM_001253852.3(AP4B1):c.114-2A>C
|
rs879255396
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001253852.3(AP4B1):c.1181_1182del (p.Gln394fs)
|
rs2101015147
|
|
NM_001253852.3(AP4B1):c.1282G>T (p.Glu428Ter)
|
rs1060499756
|
|
NM_001253852.3(AP4B1):c.1328T>C (p.Leu443Pro)
|
rs746890435
|
|
NM_001253852.3(AP4B1):c.1355del (p.Asn452fs)
|
rs2100998416
|
|
NM_001253852.3(AP4B1):c.1496del (p.Leu499fs)
|
rs2100997427
|
|
NM_001253852.3(AP4B1):c.1544del (p.Gly515fs)
|
rs1667419336
|
|
NM_001253852.3(AP4B1):c.1608_1609insCA (p.Lys537fs)
|
rs2100995157
|
|
NM_001253852.3(AP4B1):c.1655del (p.Pro552fs)
|
rs2100994885
|
|
NM_001253852.3(AP4B1):c.1793-1G>A
|
rs2100992189
|
|
NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs)
|
rs797045244
|
|
NM_001253852.3(AP4B1):c.311del (p.Leu104fs)
|
rs2101043631
|
|
NM_001253852.3(AP4B1):c.313del (p.Ala105fs)
|
rs587783179
|
|
NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer)
|
rs1553259463
|
|
NM_001253852.3(AP4B1):c.487_488insTAT (p.Glu163delinsValTer)
|
rs2101035173
|
|
NM_001253852.3(AP4B1):c.530_531insA (p.Asn178fs)
|
rs879255397
|
|
NM_001253852.3(AP4B1):c.664del (p.Leu222fs)
|
rs1571563769
|
|
NM_001253852.3(AP4B1):c.955T>C (p.Phe319Leu)
|
rs1060499771
|
|
NM_001253852.3(AP4B1):c.991C>T (p.Gln331Ter)
|
rs2101024858
|
|
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn)
|
rs768740459
|
|
NM_001256715.2(DNAAF3):c.174del (p.His59fs)
|
rs1384651581
|
|
NM_001271049.2(CFAP221):c.2303_2307del (p.Leu768fs)
|
rs2104806661
|
|
NM_001358921.2(COQ2):c.26dup (p.Ala10fs)
|
rs1198292264
|
|
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter)
|
rs2126564103
|
|
NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys)
|
rs1320036244
|
|
NM_001369.3(DNAH5):c.1731-2A>T
|
rs2151963411
|
|
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer)
|
rs1554090622
|
|
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs)
|
rs1580731750
|
|
NM_001369.3(DNAH5):c.3598+2T>C
|
rs981267400
|
|
NM_001369.3(DNAH5):c.4117-2A>G
|
rs1467301649
|
|
NM_001369.3(DNAH5):c.5147G>C (p.Arg1716Pro)
|
rs74799487
|
|
NM_001369.3(DNAH5):c.5588del (p.Phe1863fs)
|
rs2151860332
|
|
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)
|
rs1273352530
|
|
NM_001369.3(DNAH5):c.6932_6935del (p.Asp2311fs)
|
rs1554062097
|
|
NM_001369.3(DNAH5):c.6988+2T>C
|
rs2151806960
|
|
NM_001369.3(DNAH5):c.8092_8097del (p.Val2698_Asp2699del)
|
rs1757363484
|
|
NM_001369.3(DNAH5):c.8141del (p.Asn2714fs)
|
rs2126910254
|
|
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter)
|
rs923842695
|
|
NM_001374353.1(GLI2):c.1600G>A (p.Ala534Thr)
|
rs1340215600
|
|
NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp)
|
rs2048519381
|
|
NM_001395656.1(ROBO2):c.292G>T (p.Gly98Trp)
|
rs2071367863
|
|
NM_001448.3(GPC4):c.455del (p.Val152fs)
|
rs2124120705
|
|
NM_001453.3(FOXC1):c.1025C>T (p.Ala342Val)
|
rs773600190
|
|
NM_001453.3(FOXC1):c.1139G>T (p.Gly380Val)
|
rs1581374640
|
|
NM_001453.3(FOXC1):c.207GCAGCC[3] (p.70QP[3])
|
rs780038931
|
|
NM_001453.3(FOXC1):c.430AAG[1] (p.Lys145del)
|
rs768741176
|
|
NM_001453.3(FOXC1):c.926_940del (p.Ser309_Ile313del)
|
rs774848608
|
|
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)
|
rs121964880
|
|
NM_001845.6(COL4A1):c.2512A>G (p.Met838Val)
|
rs2139164333
|
|
NM_001845.6(COL4A1):c.2782G>C (p.Asp928His)
|
rs2139163073
|
|
NM_001845.6(COL4A1):c.4213G>A (p.Gly1405Ser)
|
rs1877181545
|
|
NM_001846.4(COL4A2):c.3472G>C (p.Gly1158Arg)
|
rs2139537197
|
|
NM_001903.5(CTNNA1):c.2572_2586dup (p.Ser858_Lys862dup)
|
rs2150359366
|
|
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys)
|
rs1555702147
|
|
NM_002204.4(ITGA3):c.1883G>C (p.Arg628Pro)
|
rs140781106
|
|
NM_002204.4(ITGA3):c.2593del (p.Asp865fs)
|
rs2144304926
|
|
NM_002292.4(LAMB2):c.143A>C (p.Tyr48Ser)
|
rs776905329
|
|
NM_002292.4(LAMB2):c.4537C>T (p.Gln1513Ter)
|
rs2107636063
|
|
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg)
|
rs34540312
|
|
NM_002386.4(MC1R):c.517GTC[1] (p.Val174del)
|
rs747777879
|
|
NM_002386.4(MC1R):c.894C>G (p.Tyr298Ter)
|
rs143395134
|
|
NM_002461.3(MVD):c.811_815del (p.Phe271fs)
|
rs2142896426
|
|
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)
|
rs121913254
|
|
NM_003040.4(SLC4A2):c.2107G>A (p.Ala703Thr)
|
rs1430578614
|
|
NM_003074.4(SMARCC1):c.1242_1243dup (p.Thr415fs)
|
rs1576412227
|
|
NM_003074.4(SMARCC1):c.1577A>C (p.His526Pro)
|
rs1576408057
|
|
NM_003074.4(SMARCC1):c.1589_1590insAGTGGGGACTC (p.Gln531fs)
|
rs1576408050
|
|
NM_003074.4(SMARCC1):c.2672del (p.Lys891fs)
|
rs1576390243
|
|
NM_003074.4(SMARCC1):c.535A>T (p.Lys179Ter)
|
rs1576426439
|
|
NM_003108.4(SOX11):c.191G>A (p.Arg64His)
|
rs2103276364
|
|
NM_003114.5(SPAG1):c.1119del (p.Ala374fs)
|
rs1244721341
|
|
NM_003221.4(TFAP2B):c.1144C>T (p.Arg382Ter)
|
rs2113960501
|
|
NM_003221.4(TFAP2B):c.3G>A (p.Met1Ile)
|
rs2113920409
|
|
NM_003221.4(TFAP2B):c.601+2T>A
|
rs2113937986
|
|
NM_003221.4(TFAP2B):c.827A>G (p.Lys276Arg)
|
rs2113952620
|
|
NM_003235.5(TG):c.1076-1G>C
|
rs1412480668
|
|
NM_003285.3(TNR):c.1594G>A (p.Asp532Asn)
|
rs892080402
|
|
NM_003285.3(TNR):c.1899del (p.Glu634fs)
|
rs1571360953
|
|
NM_003285.3(TNR):c.207C>G (p.Tyr69Ter)
|
rs1389178206
|
|
NM_003285.3(TNR):c.2713C>T (p.Arg905Ter)
|
rs1287757170
|
|
NM_003285.3(TNR):c.2744_2745del (p.Val915fs)
|
rs1571339601
|
|
NM_003285.3(TNR):c.3357C>G (p.Ser1119Arg)
|
rs1571329071
|
|
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu)
|
rs780475918
|
|
NM_003361.4(UMOD):c.280T>C (p.Cys94Arg)
|
rs2141676543
|
|
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)
|
rs398123697
|
|
NM_003396.3(WNT9B):c.11dup (p.Pro5fs)
|
rs1291189006
|
|
NM_003396.3(WNT9B):c.949G>A (p.Gly317Arg)
|
rs753748759
|
|
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs)
|
rs797044945
|
|
NM_003611.3(OFD1):c.2862dup (p.Glu955Ter)
|
rs2147086302
|
|
NM_003611.3(OFD1):c.2868del (p.Pro957fs)
|
rs2147086315
|
|
NM_003647.3(DGKE):c.610del (p.Thr204fs)
|
rs147972030
|
|
NM_003722.5(TP63):c.1012C>T (p.Arg338Cys)
|
rs1404019220
|
|
NM_003901.4(SGPL1):c.1037G>T (p.Ser346Ile)
|
rs1131692256
|
|
NM_003901.4(SGPL1):c.665G>A (p.Arg222Gln)
|
rs769259446
|
|
NM_004297.4(GNA14):c.614A>T (p.Gln205Leu)
|
rs1554685903
|
|
NM_004525.3(LRP2):c.12623C>A (p.Pro4208His)
|
rs2105348670
|
|
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs)
|
rs80338754
|
|
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His)
|
rs80338747
|
|
NM_004525.3(LRP2):c.857G>T (p.Cys286Phe)
|
rs2105467271
|
|
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp)
|
rs869025541
|
|
NM_004646.4(NPHS1):c.139del (p.Ala47fs)
|
rs386833882
|
|
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg)
|
rs386833892
|
|
NM_004646.4(NPHS1):c.2014G>A (p.Ala672Thr)
|
rs1352354716
|
|
NM_004646.4(NPHS1):c.2020C>A (p.Pro674Thr)
|
rs2146822238
|
|
NM_004646.4(NPHS1):c.2506+5G>T
|
rs762704370
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
NM_004646.4(NPHS1):c.728C>T (p.Pro243Leu)
|
rs919999972
|
|
NM_004722.4(AP4M1):c.1026-1G>T
|
rs2116670931
|
|
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)
|
rs886041126
|
|
NM_004722.4(AP4M1):c.194_195del (p.Tyr65fs)
|
rs777377185
|
|
NM_004722.4(AP4M1):c.218dup (p.Asn73fs)
|
rs1321353475
|
|
NM_004722.4(AP4M1):c.330C>G (p.Tyr110Ter)
|
rs752598529
|
|
NM_004722.4(AP4M1):c.521dup (p.Leu175fs)
|
rs2116638409
|
|
NM_004722.4(AP4M1):c.544-8_544-3del
|
rs1064794383
|
|
NM_004722.4(AP4M1):c.694del (p.Glu232fs)
|
rs1584514057
|
|
NM_004722.4(AP4M1):c.694dup (p.Glu232fs)
|
rs1584514057
|
|
NM_004722.4(AP4M1):c.851A>C (p.Tyr284Ser)
|
rs1554380391
|
|
NM_004722.4(AP4M1):c.90del (p.Glu31fs)
|
rs2116616864
|
|
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)
|
rs730882249
|
|
NM_004722.4(AP4M1):c.956G>A (p.Cys319Tyr)
|
rs1057521784
|
|
NM_004722.4(AP4M1):c.974+1G>T
|
rs1344550427
|
|
NM_004937.3(CTNS):c.809_811del (p.Ser270del)
|
rs786204632
|
|
NM_004998.4(MYO1E):c.1228G>A (p.Glu410Lys)
|
rs2140342702
|
|
NM_004998.4(MYO1E):c.1978C>T (p.Gln660Ter)
|
rs2140319931
|
|
NM_005027.4(PIK3R2):c.1669G>T (p.Asp557Tyr)
|
rs372272045
|
|
NM_005245.4(FAT1):c.9259C>G (p.Arg3087Gly)
|
rs375998390
|
|
NM_005257.6(GATA6):c.1532C>G (p.Ser511Cys)
|
rs1598738032
|
|
NM_005343.4(HRAS):c.145G>A (p.Glu49Lys)
|
rs1277340795
|
|
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)
|
rs121913233
|
|
NM_005343.4(HRAS):c.37G>A (p.Gly13Ser)
|
rs104894228
|
|
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)
|
rs104894228
|
|
NM_005378.6(MYCN):c.1178G>A (p.Arg393His)
|
rs104893646
|
|
NM_005660.3(SLC35A2):c.164G>T (p.Arg55Leu)
|
rs1557043650
|
|
NM_005660.3(SLC35A2):c.337_339dup (p.Leu113dup)
|
rs2147489679
|
|
NM_005660.3(SLC35A2):c.634_635del (p.Ser212fs)
|
rs1602338615
|
|
NM_005660.3(SLC35A2):c.747_757dup (p.Ala253fs)
|
rs2147486766
|
|
NM_005660.3(SLC35A2):c.910T>C (p.Ser304Pro)
|
rs2147486180
|
|
NM_006218.4(PIK3CA):c.1048G>A (p.Asp350Asn)
|
rs1064793349
|
|
NM_006556.4(PMVK):c.379C>T (p.Gln127Ter)
|
rs2101965598
|
|
NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys)
|
rs104893726
|
|
NM_006766.5(KAT6A):c.3661G>T (p.Glu1221Ter)
|
rs139494583
|
|
NM_006939.4(SOS2):c.1126A>T (p.Thr376Ser)
|
rs1594982548
|
|
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser)
|
rs869320687
|
|
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
|
|
|
NM_007286.6(SYNPO):c.1808C>T (p.Pro603Leu)
|
rs1464796596
|
|
NM_007325.5(GRIA3):c.1888G>A (p.Gly630Arg)
|
rs587777361
|
|
NM_007347.5(AP4E1):c.1358_1359dup (p.Val454fs)
|
rs2140861869
|
|
NM_007347.5(AP4E1):c.1833del (p.Ser612fs)
|
rs2140878481
|
|
NM_007347.5(AP4E1):c.3277C>T (p.Gln1093Ter)
|
rs773929706
|
|
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter)
|
rs1313275799
|
|
NM_007347.5(AP4E1):c.542+5_542+8del
|
rs2141147450
|
|
NM_007347.5(AP4E1):c.652_653del (p.Asp218fs)
|
rs2063801225
|
|
NM_007347.5(AP4E1):c.881_891del (p.Leu294fs)
|
rs2141164712
|
|
NM_007347.5(AP4E1):c.944-1G>C
|
rs1555456727
|
|
NM_012144.4(DNAI1):c.1463del (p.Pro488fs)
|
rs2132081705
|
|
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr)
|
rs368248592
|
|
NM_012203.2(GRHPR):c.103del (p.Asp35fs)
|
rs80356708
|
|
NM_012330.4(KAT6B):c.4285G>A (p.Glu1429Lys)
|
rs1846114839
|
|
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val)
|
rs121908436
|
|
NM_014140.4(SMARCAL1):c.1736C>A (p.Ser579Ter)
|
rs1694331040
|
|
NM_014140.4(SMARCAL1):c.1822T>C (p.Phe608Leu)
|
rs2106050388
|
|
NM_014140.4(SMARCAL1):c.1940A>C (p.Lys647Thr)
|
rs2106055226
|
|
NM_014208.3(DSPP):c.3135del (p.Ser1045fs)
|
rs1553904372
|
|
NM_014208.3(DSPP):c.3504_3508dup (p.Asp1170fs)
|
rs1553904512
|
|
NM_014553.3(TFCP2L1):c.689del (p.Asp230fs)
|
rs2104690970
|
|
NM_014625.4(NPHS2):c.1059_1060del (p.Ser354fs)
|
rs2125764106
|
|
NM_014625.4(NPHS2):c.1120A>T (p.Asn374Tyr)
|
rs2125763683
|
|
NM_014625.4(NPHS2):c.1A>T (p.Met1Leu)
|
rs2101887841
|
|
NM_014625.4(NPHS2):c.397del (p.Arg133fs)
|
rs1481262338
|
|
NM_014625.4(NPHS2):c.419del (p.Gly140fs)
|
rs749779208
|
|
NM_014625.4(NPHS2):c.742G>A (p.Ala248Thr)
|
rs2125780619
|
|
NM_014625.4(NPHS2):c.910_918del (p.Ser304_Arg306del)
|
rs2125765369
|
|
NM_014669.5(NUP93):c.1886A>G (p.Tyr629Cys)
|
rs757674160
|
|
NM_014967.5(FAN1):c.2590C>T (p.Gln864Ter)
|
rs767651793
|
|
NM_015143.3(METAP1):c.865C>T (p.Arg289Ter)
|
rs779530889
|
|
NM_016059.5(PPIL1):c.245T>C (p.Phe82Ser)
|
rs2150653717
|
|
NM_016059.5(PPIL1):c.295G>A (p.Ala99Thr)
|
rs199818754
|
|
NM_016059.5(PPIL1):c.301_318dup (p.Ala101_Asp106dup)
|
rs2150653427
|
|
NM_016059.5(PPIL1):c.319A>G (p.Thr107Ala)
|
rs1583103432
|
|
NM_016059.5(PPIL1):c.325G>T (p.Gly109Cys)
|
rs2150653422
|
|
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs)
|
rs750130520
|
|
NM_016239.4(MYO15A):c.9467T>C (p.Leu3156Pro)
|
rs2046774616
|
|
NM_016341.4(PLCE1):c.1709del (p.Ser570fs)
|
rs2136320656
|
|
NM_016341.4(PLCE1):c.2576_2577insT (p.Gln859fs)
|
rs2137512478
|
|
NM_016341.4(PLCE1):c.3379_3380del (p.Ile1126_Asn1127insTer)
|
rs2132855762
|
|
NM_016341.4(PLCE1):c.4506+2T>C
|
rs2133127123
|
|
NM_016341.4(PLCE1):c.4887del (p.Ala1630fs)
|
rs747229979
|
|
NM_016341.4(PLCE1):c.4978_4981del (p.Gln1660fs)
|
rs1589475328
|
|
NM_016341.4(PLCE1):c.5521A>G (p.Lys1841Glu)
|
rs2133612592
|
|
NM_016341.4(PLCE1):c.5951_5953del (p.Asn1984del)
|
rs2133673643
|
|
NM_017950.4(CCDC40):c.3358C>T (p.Gln1120Ter)
|
rs2143789412
|
|
NM_017950.4(CCDC40):c.93+2T>C
|
rs2037179047
|
|
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)
|
rs765211108
|
|
NM_018384.5(GIMAP5):c.667C>T (p.Leu223Phe)
|
rs2116581086
|
|
NM_019024.3(HEATR5B):c.5050+4A>G
|
rs1667224478
|
|
NM_019024.3(HEATR5B):c.5051-1G>A
|
rs1667163007
|
|
NM_021147.5(CCNO):c.248_252dup (p.Gly85fs)
|
rs587777498
|
|
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs)
|
rs587777499
|
|
NM_022489.4(INF2):c.353T>A (p.Ile118Asn)
|
rs2140639518
|
|
NM_022489.4(INF2):c.532T>G (p.Phe178Val)
|
rs2140648131
|
|
NM_023110.3(FGFR1):c.625C>T (p.Arg209Cys)
|
rs1554564353
|
|
NM_023110.3(FGFR1):c.6G>A (p.Trp2Ter)
|
rs1554594114
|
|
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn)
|
rs2150668444
|
|
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter)
|
rs2105344578
|
|
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val)
|
rs746459698
|
|
NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu)
|
rs730880511
|
|
NM_030912.3(TRIM8):c.1163del (p.Phe388fs)
|
rs2135984840
|
|
NM_030912.3(TRIM8):c.1231C>T (p.Gln411Ter)
|
rs2135984949
|
|
NM_030912.3(TRIM8):c.1240C>T (p.Gln414Ter)
|
rs2135984958
|
|
NM_030912.3(TRIM8):c.1267C>T (p.Gln423Ter)
|
rs2064030858
|
|
NM_030912.3(TRIM8):c.1333C>T (p.Gln445Ter)
|
rs2135985076
|
|
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter)
|
rs866294686
|
|
NM_030912.3(TRIM8):c.1380T>A (p.Tyr460Ter)
|
rs2135985150
|
|
NM_030912.3(TRIM8):c.1461C>G (p.Tyr487Ter)
|
rs1387656757
|
|
NM_032756.4(HPDL):c.1072T>G (p.Trp358Gly)
|
rs2149082406
|
|
NM_032756.4(HPDL):c.110G>C (p.Arg37Pro)
|
rs745594303
|
|
NM_032756.4(HPDL):c.232G>A (p.Ala78Thr)
|
rs1360472871
|
|
NM_032756.4(HPDL):c.256del (p.Ala86fs)
|
rs753787033
|
|
NM_032756.4(HPDL):c.27C>A (p.Cys9Ter)
|
rs1373645311
|
|
NM_032756.4(HPDL):c.342_345dup (p.Ala116fs)
|
rs1644248738
|
|
NM_032756.4(HPDL):c.418G>A (p.Gly140Arg)
|
rs758727749
|
|
NM_032756.4(HPDL):c.493A>C (p.Thr165Pro)
|
rs1446895238
|
|
NM_032756.4(HPDL):c.518C>A (p.Ser173Tyr)
|
rs2149081821
|
|
NM_032756.4(HPDL):c.523_529del (p.Thr175fs)
|
rs2149081832
|
|
NM_032756.4(HPDL):c.529_530del (p.Leu177fs)
|
rs1644253428
|
|
NM_032756.4(HPDL):c.569C>T (p.Pro190Leu)
|
rs368625962
|
|
NM_032756.4(HPDL):c.650T>C (p.Leu217Pro)
|
rs1297494568
|
|
NM_032756.4(HPDL):c.679del (p.Thr227fs)
|
rs2149081995
|
|
NM_032756.4(HPDL):c.692C>G (p.Ala231Gly)
|
rs756300449
|
|
NM_032756.4(HPDL):c.769_771delinsTC (p.Gln257fs)
|
rs2149082096
|
|
NM_032756.4(HPDL):c.788C>G (p.Thr263Arg)
|
rs116004018
|
|
NM_032756.4(HPDL):c.816_817del (p.Val273fs)
|
rs2149082140
|
|
NM_032756.4(HPDL):c.995del (p.Thr332fs)
|
rs1167901073
|
|
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)
|
rs797044995
|
|
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter)
|
rs797044994
|
|
NM_033380.3(COL4A5):c.2396G>A (p.Gly799Asp)
|
rs2147849728
|
|
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)
|
rs104886210
|
|
NM_033380.3(COL4A5):c.3722G>A (p.Gly1241Asp)
|
rs281874721
|
|
NM_033629.6(TREX1):c.830_833dup (p.Asp278fs)
|
rs2107265602
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_138694.4(PKHD1):c.820dup (p.Arg274fs)
|
rs1582064844
|
|
NM_138694.4(PKHD1):c.880+1G>C
|
rs1582064292
|
|
NM_138694.4(PKHD1):c.9208C>T (p.Gln3070Ter)
|
rs1582441455
|
|
NM_144773.4(PROKR2):c.332T>G (p.Met111Arg)
|
rs914930539
|
|
NM_152732.5(RSPH9):c.244del (p.Trp82fs)
|
rs2127891310
|
|
NM_173494.2(DNAAF6):c.332+1G>A
|
rs2147829163
|
|
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)
|
rs1131692048
|
|
NM_177400.3(NKX6-2):c.592A>G (p.Asn198Asp)
|
rs2134706153
|
|
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)
|
rs1008088032
|
|
NM_178452.6(DNAAF1):c.778C>T (p.Gln260Ter)
|
rs2087613070
|
|
NM_178452.6(DNAAF1):c.831C>G (p.Tyr277Ter)
|
rs1396269749
|
|
NM_181426.2(CCDC39):c.1045del (p.Thr349fs)
|
rs747980515
|
|
NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs)
|
rs751239231
|
|
NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly)
|
rs1560092712
|
|
NM_181426.2(CCDC39):c.436del (p.Trp146fs)
|
rs2108429507
|
|
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)
|
rs773801386
|
|
NM_182758.4(WDR72):c.477_485dup (p.Ile159_Cys161dup)
|
rs2140558454
|
|
NM_182758.4(WDR72):c.764_768del (p.Gly255fs)
|
rs1469562355
|
|
NM_182920.2(ADAMTS9):c.4575_4576del (p.Gln1525fs)
|
rs2106648140
|
|
NM_197968.4(ZMYM2):c.1192C>T (p.Gln398Ter)
|
rs2139949646
|
|
NM_197968.4(ZMYM2):c.1367dup (p.Tyr456Ter)
|
rs2139974502
|
|
NM_197968.4(ZMYM2):c.1607del (p.Cys536fs)
|
rs2140253640
|
|
NM_197968.4(ZMYM2):c.1618C>T (p.Arg540Ter)
|
rs1309291116
|
|
NM_197968.4(ZMYM2):c.1623_1627del (p.Cys543fs)
|
rs2140253913
|
|
NM_197968.4(ZMYM2):c.2165T>A (p.Leu722Ter)
|
rs2140369057
|
|
NM_197968.4(ZMYM2):c.2338C>T (p.Arg780Ter)
|
rs757669327
|
|
NM_197968.4(ZMYM2):c.2434_2437del (p.Lys812fs)
|
rs2140576563
|
|
NM_197968.4(ZMYM2):c.2494-1G>A
|
rs2140726371
|
|
NM_197968.4(ZMYM2):c.3130_3131dup (p.Gly1045fs)
|
rs753611080
|
|
NM_197968.4(ZMYM2):c.3176dup (p.Asp1059fs)
|
rs2140884265
|
|
NM_197968.4(ZMYM2):c.3246G>A (p.Trp1082Ter)
|
rs2140884891
|
|
NM_197968.4(ZMYM2):c.622C>T (p.Arg208Ter)
|
rs2139746476
|
|
NM_197968.4(ZMYM2):c.766_767dup (p.Val256_Gly257insTer)
|
rs2139748846
|
|
NM_207361.6(FREM2):c.2533C>T (p.His845Tyr)
|
rs1869732816
|
|
NM_207361.6(FREM2):c.649C>T (p.Arg217Cys)
|
rs199674984
|
|