|
NM_017780.4(CHD7):c.5533G>A (p.Gly1845Arg)
|
rs753347128
|
0.00004
|
|
NM_017780.4(CHD7):c.2656C>T (p.Arg886Trp)
|
rs772260091
|
0.00001
|
|
NM_017780.4(CHD7):c.2657G>A (p.Arg886Gln)
|
rs1384228127
|
0.00001
|
|
NM_017780.4(CHD7):c.6194G>A (p.Arg2065His)
|
rs1197494895
|
0.00001
|
|
NC_000008.10:g.(?_61720756)_(61720851_?)del
|
|
|
|
NC_000008.11:g.(?_60741413)_(60856908_?)dup
|
|
|
|
NG_007009.1:g.138884_149300del
|
|
|
|
NM_017780.4(CHD7):c.1037_1040del (p.Arg346fs)
|
rs2150579872
|
|
|
NM_017780.4(CHD7):c.1037_1046del (p.Arg346fs)
|
|
|
|
NM_017780.4(CHD7):c.1058del (p.Phe353fs)
|
rs1060503184
|
|
|
NM_017780.4(CHD7):c.1061del (p.Pro354fs)
|
rs1554581501
|
|
|
NM_017780.4(CHD7):c.1073del (p.Gly358fs)
|
rs886040980
|
|
|
NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter)
|
rs727503860
|
|
|
NM_017780.4(CHD7):c.1159C>T (p.Gln387Ter)
|
rs2150580244
|
|
|
NM_017780.4(CHD7):c.1170T>G (p.Tyr390Ter)
|
rs554737227
|
|
|
NM_017780.4(CHD7):c.1246G>T (p.Gly416Ter)
|
rs587783428
|
|
|
NM_017780.4(CHD7):c.1250_1259del (p.Ser417fs)
|
|
|
|
NM_017780.4(CHD7):c.1267del (p.Glu423fs)
|
rs1809110580
|
|
|
NM_017780.4(CHD7):c.1294del (p.His432fs)
|
rs1554581646
|
|
|
NM_017780.4(CHD7):c.1300C>T (p.Gln434Ter)
|
rs1586251038
|
|
|
NM_017780.4(CHD7):c.1312C>T (p.Gln438Ter)
|
rs1554581657
|
|
|
NM_017780.4(CHD7):c.1342_1343del (p.Arg448fs)
|
rs1554581674
|
|
|
NM_017780.4(CHD7):c.1365dup (p.Gln456fs)
|
|
|
|
NM_017780.4(CHD7):c.1369C>T (p.Gln457Ter)
|
rs727503861
|
|
|
NM_017780.4(CHD7):c.1446dup (p.Val483fs)
|
rs2150581008
|
|
|
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)
|
rs587783429
|
|
|
NM_017780.4(CHD7):c.1488dup (p.Pro497fs)
|
rs786204200
|
|
|
NM_017780.4(CHD7):c.1505del (p.Pro502fs)
|
rs863224517
|
|
|
NM_017780.4(CHD7):c.1513C>T (p.Gln505Ter)
|
rs1554581757
|
|
|
NM_017780.4(CHD7):c.1524_1551del (p.Gln509fs)
|
|
|
|
NM_017780.4(CHD7):c.1525C>T (p.Gln509Ter)
|
|
|
|
NM_017780.4(CHD7):c.1549_1553del (p.Leu517fs)
|
|
|
|
NM_017780.4(CHD7):c.1552C>T (p.Gln518Ter)
|
rs1057519423
|
|
|
NM_017780.4(CHD7):c.1577_1579dup (p.Ser527Ter)
|
|
|
|
NM_017780.4(CHD7):c.1595del (p.Pro532fs)
|
|
|
|
NM_017780.4(CHD7):c.1603C>T (p.Gln535Ter)
|
rs751709941
|
|
|
NM_017780.4(CHD7):c.1633C>T (p.Gln545Ter)
|
|
|
|
NM_017780.4(CHD7):c.1663C>T (p.Gln555Ter)
|
|
|
|
NM_017780.4(CHD7):c.1665+1G>A
|
|
|
|
NM_017780.4(CHD7):c.191_194del (p.Thr64fs)
|
rs587783431
|
|
|
NM_017780.4(CHD7):c.2097-1G>C
|
rs1060503182
|
|
|
NM_017780.4(CHD7):c.2097-2A>G
|
rs2150697457
|
|
|
NM_017780.4(CHD7):c.2129del (p.Ala709_Leu710insTer)
|
rs2150697555
|
|
|
NM_017780.4(CHD7):c.216T>A (p.Tyr72Ter)
|
|
|
|
NM_017780.4(CHD7):c.2189dup (p.Pro731fs)
|
rs2150697787
|
|
|
NM_017780.4(CHD7):c.2195del (p.Pro732fs)
|
rs1586341138
|
|
|
NM_017780.4(CHD7):c.2195dup (p.Pro733fs)
|
rs1586341138
|
|
|
NM_017780.4(CHD7):c.2196dup (p.Pro733fs)
|
rs2150697832
|
|
|
NM_017780.4(CHD7):c.2215G>T (p.Glu739Ter)
|
rs886040981
|
|
|
NM_017780.4(CHD7):c.2229_2230insCC (p.Gly744fs)
|
rs1563607193
|
|
|
NM_017780.4(CHD7):c.2238+1G>A
|
rs1811957737
|
|
|
NM_017780.4(CHD7):c.2239-16T>A
|
|
|
|
NM_017780.4(CHD7):c.2239-20_2239-6del
|
rs2150708627
|
|
|
NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter)
|
rs1586350727
|
|
|
NM_017780.4(CHD7):c.225T>G (p.Tyr75Ter)
|
|
|
|
NM_017780.4(CHD7):c.2289_2290insT (p.Glu764Ter)
|
rs2150708828
|
|
|
NM_017780.4(CHD7):c.2295del (p.Phe765fs)
|
rs1586350854
|
|
|
NM_017780.4(CHD7):c.2321dup (p.Asp774fs)
|
rs2150708918
|
|
|
NM_017780.4(CHD7):c.232C>T (p.Gln78Ter)
|
rs2150577671
|
|
|
NM_017780.4(CHD7):c.2383_2384del (p.Ser794_Val795insTer)
|
rs1064793432
|
|
|
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter)
|
rs1554593049
|
|
|
NM_017780.4(CHD7):c.2442+2449_2498+259del
|
|
|
|
NM_017780.4(CHD7):c.2442+5G>C
|
rs387906271
|
|
|
NM_017780.4(CHD7):c.2452_2462del (p.Gly818fs)
|
rs1563618176
|
|
|
NM_017780.4(CHD7):c.2495del (p.Asn832fs)
|
rs2150723965
|
|
|
NM_017780.4(CHD7):c.2498+5G>A
|
|
|
|
NM_017780.4(CHD7):c.2501C>T (p.Ser834Phe)
|
rs121434344
|
|
|
NM_017780.4(CHD7):c.2502_2509dup (p.His837fs)
|
rs797045463
|
|
|
NM_017780.4(CHD7):c.2503dup (p.Tyr835fs)
|
|
|
|
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs)
|
rs886040982
|
|
|
NM_017780.4(CHD7):c.2509_2512del (p.His837fs)
|
|
|
|
NM_017780.4(CHD7):c.2515C>T (p.Gln839Ter)
|
|
|
|
NM_017780.4(CHD7):c.2520G>A (p.Trp840Ter)
|
rs1586379156
|
|
|
NM_017780.4(CHD7):c.2568del (p.Lys857fs)
|
rs1060503181
|
|
|
NM_017780.4(CHD7):c.2569A>T (p.Lys857Ter)
|
|
|
|
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter)
|
rs1563625351
|
|
|
NM_017780.4(CHD7):c.2587C>T (p.Gln863Ter)
|
rs2150739058
|
|
|
NM_017780.4(CHD7):c.2613+1G>A
|
rs587783432
|
|
|
NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter)
|
rs797045465
|
|
|
NM_017780.4(CHD7):c.2643T>A (p.Tyr881Ter)
|
|
|
|
NM_017780.4(CHD7):c.2643T>G (p.Tyr881Ter)
|
rs587783433
|
|
|
NM_017780.4(CHD7):c.2684del (p.Asp895fs)
|
|
|
|
NM_017780.4(CHD7):c.2700del (p.Pro900_Val901insTer)
|
rs1586389286
|
|
|
NM_017780.4(CHD7):c.2707_2710del (p.His903fs)
|
rs2150748709
|
|
|
NM_017780.4(CHD7):c.2710dup (p.Tyr904fs)
|
rs1586389310
|
|
|
NM_017780.4(CHD7):c.2723G>A (p.Trp908Ter)
|
|
|
|
NM_017780.4(CHD7):c.2729C>G (p.Ser910Ter)
|
rs1804054410
|
|
|
NM_017780.4(CHD7):c.2767dup (p.Asp923fs)
|
rs1804056309
|
|
|
NM_017780.4(CHD7):c.2805_2806insTT (p.Met936fs)
|
rs2150748939
|
|
|
NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter)
|
rs587783434
|
|
|
NM_017780.4(CHD7):c.281del (p.Pro94fs)
|
rs1809027236
|
|
|
NM_017780.4(CHD7):c.282del (p.Asn96fs)
|
rs1563559321
|
|
|
NM_017780.4(CHD7):c.2835+1G>T
|
|
|
|
NM_017780.4(CHD7):c.2836-1G>A
|
rs1586389929
|
|
|
NM_017780.4(CHD7):c.2836-2A>T
|
rs878855031
|
|
|
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter)
|
rs200220845
|
|
|
NM_017780.4(CHD7):c.2858G>A (p.Trp953Ter)
|
rs1554597465
|
|
|
NM_017780.4(CHD7):c.2872_2873del (p.Ser958fs)
|
|
|
|
NM_017780.4(CHD7):c.2881del (p.Glu961fs)
|
rs2150749363
|
|
|
NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs)
|
rs587783436
|
|
|
NM_017780.4(CHD7):c.2908G>T (p.Glu970Ter)
|
|
|
|
NM_017780.4(CHD7):c.2915A>G (p.Gln972Arg)
|
rs1554597512
|
|
|
NM_017780.4(CHD7):c.2919_2922GGAG[1] (p.Glu974_Gly975insTer)
|
rs1586390136
|
|
|
NM_017780.4(CHD7):c.2930del (p.Asn977fs)
|
|
|
|
NM_017780.4(CHD7):c.2948G>A (p.Trp983Ter)
|
|
|
|
NM_017780.4(CHD7):c.2949G>A (p.Trp983Ter)
|
|
|
|
NM_017780.4(CHD7):c.2957+2T>C
|
rs2150749475
|
|
|
NM_017780.4(CHD7):c.2957+5G>A
|
rs1586390236
|
|
|
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter)
|
rs886040983
|
|
|
NM_017780.4(CHD7):c.2983A>G (p.Met995Val)
|
|
|
|
NM_017780.4(CHD7):c.2990del (p.Leu997fs)
|
rs1554597677
|
|
|
NM_017780.4(CHD7):c.29_30del (p.Phe10fs)
|
rs1586247124
|
|
|
NM_017780.4(CHD7):c.3039del (p.Gly1014fs)
|
rs2150750228
|
|
|
NM_017780.4(CHD7):c.3071dup (p.Leu1025fs)
|
rs886040984
|
|
|
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val)
|
rs121434338
|
|
|
NM_017780.4(CHD7):c.3089A>G (p.Asn1030Ser)
|
rs886041167
|
|
|
NM_017780.4(CHD7):c.3093G>C (p.Trp1031Cys)
|
rs1060503187
|
|
|
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter)
|
rs1554597716
|
|
|
NM_017780.4(CHD7):c.3166del (p.Ile1056fs)
|
|
|
|
NM_017780.4(CHD7):c.3202-3T>G
|
rs1060503183
|
|
|
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter)
|
rs886040985
|
|
|
NM_017780.4(CHD7):c.3209del (p.Val1070fs)
|
rs1554597952
|
|
|
NM_017780.4(CHD7):c.328_329insGGAGG (p.Val110fs)
|
|
|
|
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg)
|
rs1586393556
|
|
|
NM_017780.4(CHD7):c.3309_3310del (p.Val1103_Ile1104insTer)
|
rs2150752540
|
|
|
NM_017780.4(CHD7):c.3320_3333dup (p.Asn1112delinsProThrGlyTer)
|
|
|
|
NM_017780.4(CHD7):c.3364_3365del (p.Lys1122fs)
|
|
|
|
NM_017780.4(CHD7):c.3367_3368dup (p.Met1123fs)
|
rs1804158472
|
|
|
NM_017780.4(CHD7):c.3369dup (p.Met1124fs)
|
|
|
|
NM_017780.4(CHD7):c.3378+5G>C
|
rs1554598029
|
|
|
NM_017780.4(CHD7):c.3378G>C (p.Leu1126Phe)
|
|
|
|
NM_017780.4(CHD7):c.3379-2A>C
|
rs864622523
|
|
|
NM_017780.4(CHD7):c.3379G>T (p.Glu1127Ter)
|
rs1563636399
|
|
|
NM_017780.4(CHD7):c.3412C>T (p.Gln1138Ter)
|
rs1554599035
|
|
|
NM_017780.4(CHD7):c.3422_3423del (p.Val1141fs)
|
rs2150761158
|
|
|
NM_017780.4(CHD7):c.3431del (p.Leu1144fs)
|
|
|
|
NM_017780.4(CHD7):c.3470del (p.Pro1157fs)
|
rs1804367478
|
|
|
NM_017780.4(CHD7):c.3490C>T (p.Gln1164Ter)
|
rs1554599065
|
|
|
NM_017780.4(CHD7):c.3514_3515del (p.Glu1172fs)
|
rs1804369315
|
|
|
NM_017780.4(CHD7):c.3522+1G>A
|
rs1804369859
|
|
|
NM_017780.4(CHD7):c.3526C>T (p.Gln1176Ter)
|
rs886040986
|
|
|
NM_017780.4(CHD7):c.356_359dup (p.Gly121fs)
|
rs2150578004
|
|
|
NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs)
|
rs886040987
|
|
|
NM_017780.4(CHD7):c.3577_3583del (p.Asp1193fs)
|
rs1586405367
|
|
|
NM_017780.4(CHD7):c.3606_3616dup (p.Ile1206fs)
|
rs1554599462
|
|
|
NM_017780.4(CHD7):c.3634_3637del (p.Asn1212fs)
|
|
|
|
NM_017780.4(CHD7):c.3641A>C (p.Gln1214Pro)
|
rs1804454889
|
|
|
NM_017780.4(CHD7):c.3655C>T (p.Arg1219Ter)
|
rs372174845
|
|
|
NM_017780.4(CHD7):c.3674dup (p.Asn1225fs)
|
rs886040989
|
|
|
NM_017780.4(CHD7):c.3678del (p.Phe1226fs)
|
rs863224518
|
|
|
NM_017780.4(CHD7):c.3695_3710dup (p.Asn1237delinsLysArgTrpSerSerTer)
|
rs2150764898
|
|
|
NM_017780.4(CHD7):c.3768C>G (p.Tyr1256Ter)
|
rs878855032
|
|
|
NM_017780.4(CHD7):c.3770T>G (p.Leu1257Arg)
|
rs121434339
|
|
|
NM_017780.4(CHD7):c.3811G>T (p.Glu1271Ter)
|
rs121434342
|
|
|
NM_017780.4(CHD7):c.3811_3814del (p.Glu1271fs)
|
rs886040990
|
|
|
NM_017780.4(CHD7):c.3840del (p.Gln1281fs)
|
|
|
|
NM_017780.4(CHD7):c.3847C>T (p.Gln1283Ter)
|
|
|
|
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro)
|
rs864309609
|
|
|
NM_017780.4(CHD7):c.3905T>C (p.Leu1302Pro)
|
rs1563643394
|
|
|
NM_017780.4(CHD7):c.3937del (p.Ser1313fs)
|
rs1554600538
|
|
|
NM_017780.4(CHD7):c.3964del (p.Leu1322fs)
|
rs879255410
|
|
|
NM_017780.4(CHD7):c.398_401del (p.Arg133fs)
|
|
|
|
NM_017780.4(CHD7):c.3990-1G>C
|
|
|
|
NM_017780.4(CHD7):c.3999del (p.Pro1332_Tyr1333insTer)
|
rs1586417729
|
|
|
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter)
|
rs1563644066
|
|
|
NM_017780.4(CHD7):c.4034G>A (p.Arg1345His)
|
|
|
|
NM_017780.4(CHD7):c.406C>T (p.Gln136Ter)
|
|
|
|
NM_017780.4(CHD7):c.4157C>G (p.Ser1386Ter)
|
|
|
|
NM_017780.4(CHD7):c.4185+1G>A
|
rs1586418093
|
|
|
NM_017780.4(CHD7):c.4186-2A>G
|
|
|
|
NM_017780.4(CHD7):c.4203_4204del (p.His1401fs)
|
rs1804800490
|
|
|
NM_017780.4(CHD7):c.4216_4217del (p.Ser1406fs)
|
|
|
|
NM_017780.4(CHD7):c.4236C>G (p.Tyr1412Ter)
|
|
|
|
NM_017780.4(CHD7):c.4266_4267dup (p.Glu1423fs)
|
|
|
|
NM_017780.4(CHD7):c.4295_4296del (p.Leu1432fs)
|
rs1586419497
|
|
|
NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter)
|
rs587783440
|
|
|
NM_017780.4(CHD7):c.4353+1G>T
|
rs1804804514
|
|
|
NM_017780.4(CHD7):c.4354-1G>A
|
rs2150779252
|
|
|
NM_017780.4(CHD7):c.4360C>T (p.Gln1454Ter)
|
rs2150779267
|
|
|
NM_017780.4(CHD7):c.4375G>T (p.Glu1459Ter)
|
|
|
|
NM_017780.4(CHD7):c.4379_4380del (p.Ile1460fs)
|
rs398124319
|
|
|
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter)
|
rs886040991
|
|
|
NM_017780.4(CHD7):c.4424del (p.Glu1475fs)
|
rs1804819972
|
|
|
NM_017780.4(CHD7):c.4439_4440insCCCC (p.Lys1481fs)
|
|
|
|
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter)
|
rs587783442
|
|
|
NM_017780.4(CHD7):c.4494dup (p.Thr1499fs)
|
rs1563645417
|
|
|
NM_017780.4(CHD7):c.4515dup (p.Gly1506fs)
|
|
|
|
NM_017780.4(CHD7):c.4533+1G>A
|
rs1586420419
|
|
|
NM_017780.4(CHD7):c.4542del (p.Phe1514fs)
|
rs2150785999
|
|
|
NM_017780.4(CHD7):c.4627dup (p.Asp1543fs)
|
rs2150786214
|
|
|
NM_017780.4(CHD7):c.4634del (p.Ala1544_Leu1545insTer)
|
rs587783443
|
|
|
NM_017780.4(CHD7):c.463C>T (p.Gln155Ter)
|
rs1809042353
|
|
|
NM_017780.4(CHD7):c.4645-1G>A
|
|
|
|
NM_017780.4(CHD7):c.4652del (p.Leu1551fs)
|
rs1586426486
|
|
|
NM_017780.4(CHD7):c.4662del (p.Asp1554fs)
|
rs1563648905
|
|
|
NM_017780.4(CHD7):c.4667dup (p.Arg1557fs)
|
rs2150786530
|
|
|
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)
|
rs794727293
|
|
|
NM_017780.4(CHD7):c.4738G>T (p.Glu1580Ter)
|
rs1804993220
|
|
|
NM_017780.4(CHD7):c.4747del (p.Ser1583fs)
|
|
|
|
NM_017780.4(CHD7):c.4757del (p.Lys1586fs)
|
|
|
|
NM_017780.4(CHD7):c.4783C>T (p.Gln1595Ter)
|
|
|
|
NM_017780.4(CHD7):c.478del (p.Tyr160fs)
|
rs1554581198
|
|
|
NM_017780.4(CHD7):c.4795C>T (p.Gln1599Ter)
|
rs267606724
|
|
|
NM_017780.4(CHD7):c.480C>A (p.Tyr160Ter)
|
|
|
|
NM_017780.4(CHD7):c.4835del (p.Asn1612fs)
|
rs1554601654
|
|
|
NM_017780.4(CHD7):c.4837_4838del (p.Leu1613fs)
|
rs886040992
|
|
|
NM_017780.4(CHD7):c.4842dup (p.Val1615fs)
|
|
|
|
NM_017780.4(CHD7):c.4850+1G>A
|
|
|
|
NM_017780.4(CHD7):c.4863G>A (p.Trp1621Ter)
|
|
|
|
NM_017780.4(CHD7):c.487C>T (p.Gln163Ter)
|
|
|
|
NM_017780.4(CHD7):c.4888del (p.Tyr1630fs)
|
rs2150792975
|
|
|
NM_017780.4(CHD7):c.4906G>T (p.Glu1636Ter)
|
rs2150793053
|
|
|
NM_017780.4(CHD7):c.4915del (p.Asp1638_Val1639insTer)
|
rs864622455
|
|
|
NM_017780.4(CHD7):c.4933del (p.Thr1645fs)
|
rs2150793143
|
|
|
NM_017780.4(CHD7):c.4940_4944delinsA (p.Leu1647fs)
|
|
|
|
NM_017780.4(CHD7):c.4944_4945del (p.Tyr1649fs)
|
rs1805142029
|
|
|
NM_017780.4(CHD7):c.496C>T (p.Gln166Ter)
|
rs886040978
|
|
|
NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter)
|
rs797045467
|
|
|
NM_017780.4(CHD7):c.5029C>T (p.Arg1677Ter)
|
rs777652245
|
|
|
NM_017780.4(CHD7):c.5050+1G>C
|
rs1554602466
|
|
|
NM_017780.4(CHD7):c.5050G>A (p.Gly1684Ser)
|
rs1554602465
|
|
|
NM_017780.4(CHD7):c.5051-1G>A
|
rs1586432203
|
|
|
NM_017780.4(CHD7):c.5101C>T (p.Gln1701Ter)
|
|
|
|
NM_017780.4(CHD7):c.5101del (p.Gln1701fs)
|
rs1554602557
|
|
|
NM_017780.4(CHD7):c.5110C>T (p.Gln1704Ter)
|
rs1805157634
|
|
|
NM_017780.4(CHD7):c.511C>T (p.Gln171Ter)
|
rs1563560018
|
|
|
NM_017780.4(CHD7):c.5167del (p.Gln1723fs)
|
rs797044919
|
|
|
NM_017780.4(CHD7):c.5199dup (p.His1734fs)
|
rs863224856
|
|
|
NM_017780.4(CHD7):c.519del (p.Pro174fs)
|
rs1809050272
|
|
|
NM_017780.4(CHD7):c.5202del (p.Cys1735fs)
|
|
|
|
NM_017780.4(CHD7):c.5209A>T (p.Lys1737Ter)
|
|
|
|
NM_017780.4(CHD7):c.5210+2T>C
|
rs1554602587
|
|
|
NM_017780.4(CHD7):c.5210+3A>G
|
rs1554602588
|
|
|
NM_017780.4(CHD7):c.5211-1G>C
|
rs1060503180
|
|
|
NM_017780.4(CHD7):c.5211-2A>G
|
rs1805310365
|
|
|
NM_017780.4(CHD7):c.5235_5236dup (p.Tyr1746fs)
|
rs886040994
|
|
|
NM_017780.4(CHD7):c.5238C>G (p.Tyr1746Ter)
|
rs1554603151
|
|
|
NM_017780.4(CHD7):c.5241C>A (p.Tyr1747Ter)
|
|
|
|
NM_017780.4(CHD7):c.5242del (p.Tyr1747_Leu1748insTer)
|
|
|
|
NM_017780.4(CHD7):c.528dup (p.Pro177fs)
|
rs797045468
|
|
|
NM_017780.4(CHD7):c.5300+1G>A
|
|
|
|
NM_017780.4(CHD7):c.5330del (p.Phe1777fs)
|
rs1805335711
|
|
|
NM_017780.4(CHD7):c.5345del (p.Pro1782fs)
|
rs2150801705
|
|
|
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter)
|
rs1554603276
|
|
|
NM_017780.4(CHD7):c.5357G>A (p.Trp1786Ter)
|
rs1805338299
|
|
|
NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg)
|
rs1563656016
|
|
|
NM_017780.4(CHD7):c.538C>T (p.Gln180Ter)
|
rs1563560149
|
|
|
NM_017780.4(CHD7):c.5405-13G>A
|
rs1131690787
|
|
|
NM_017780.4(CHD7):c.5405-17G>A
|
rs794727423
|
|
|
NM_017780.4(CHD7):c.5405-18C>A
|
rs199981784
|
|
|
NM_017780.4(CHD7):c.5405-2A>G
|
rs1131692153
|
|
|
NM_017780.4(CHD7):c.5405-7G>A
|
rs398124321
|
|
|
NM_017780.4(CHD7):c.5409T>G (p.Tyr1803Ter)
|
rs1021645395
|
|
|
NM_017780.4(CHD7):c.5414_5422dup (p.Ser1808Ter)
|
rs2150804625
|
|
|
NM_017780.4(CHD7):c.5418C>G (p.Tyr1806Ter)
|
rs121434340
|
|
|
NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter)
|
rs1554603552
|
|
|
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter)
|
rs587783446
|
|
|
NM_017780.4(CHD7):c.5499_5500del (p.Gly1835fs)
|
|
|
|
NM_017780.4(CHD7):c.5547_5550del (p.Asp1849fs)
|
rs2150805748
|
|
|
NM_017780.4(CHD7):c.5551G>T (p.Glu1851Ter)
|
rs587783447
|
|
|
NM_017780.4(CHD7):c.557_558dup (p.Gln187fs)
|
rs1809054571
|
|
|
NM_017780.4(CHD7):c.5607+1G>A
|
rs1554603672
|
|
|
NM_017780.4(CHD7):c.5608-10T>A
|
|
|
|
NM_017780.4(CHD7):c.5638dup (p.Glu1880fs)
|
rs797045469
|
|
|
NM_017780.4(CHD7):c.5655del (p.His1886fs)
|
|
|
|
NM_017780.4(CHD7):c.5665+1dup
|
rs2150806303
|
|
|
NM_017780.4(CHD7):c.5666-2A>C
|
rs587783448
|
|
|
NM_017780.4(CHD7):c.5680_5681dup (p.Ser1894fs)
|
rs1554603818
|
|
|
NM_017780.4(CHD7):c.5689G>T (p.Glu1897Ter)
|
|
|
|
NM_017780.4(CHD7):c.5706C>G (p.Tyr1902Ter)
|
rs1131692325
|
|
|
NM_017780.4(CHD7):c.5708G>A (p.Trp1903Ter)
|
|
|
|
NM_017780.4(CHD7):c.5752dup (p.Thr1918fs)
|
rs786200873
|
|
|
NM_017780.4(CHD7):c.5782C>T (p.Gln1928Ter)
|
|
|
|
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter)
|
rs757160222
|
|
|
NM_017780.4(CHD7):c.584dup (p.Gly196fs)
|
|
|
|
NM_017780.4(CHD7):c.5879_5880del (p.Ile1959_Ser1960insTer)
|
rs2150808082
|
|
|
NM_017780.4(CHD7):c.5894+1G>A
|
|
|
|
NM_017780.4(CHD7):c.5895-2A>T
|
rs2150808631
|
|
|
NM_017780.4(CHD7):c.5897G>A (p.Trp1966Ter)
|
|
|
|
NM_017780.4(CHD7):c.5898G>A (p.Trp1966Ter)
|
rs2150808654
|
|
|
NM_017780.4(CHD7):c.5909_5910insTC (p.Glu1970fs)
|
rs2150808678
|
|
|
NM_017780.4(CHD7):c.5912del (p.Glu1971fs)
|
rs2150808685
|
|
|
NM_017780.4(CHD7):c.5914dup (p.Ala1972fs)
|
rs1586444410
|
|
|
NM_017780.4(CHD7):c.5932del (p.Val1978fs)
|
rs1805501026
|
|
|
NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter)
|
rs1554603970
|
|
|
NM_017780.4(CHD7):c.5995del (p.Ala1999fs)
|
|
|
|
NM_017780.4(CHD7):c.6045del (p.Phe2015fs)
|
|
|
|
NM_017780.4(CHD7):c.604C>T (p.Gln202Ter)
|
rs1554581277
|
|
|
NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter)
|
rs1360515765
|
|
|
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)
|
rs886040995
|
|
|
NM_017780.4(CHD7):c.6114_6120del (p.Leu2039fs)
|
rs1131691420
|
|
|
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter)
|
rs886040996
|
|
|
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter)
|
rs587783450
|
|
|
NM_017780.4(CHD7):c.6163_6164del (p.Leu2055fs)
|
rs1060503185
|
|
|
NM_017780.4(CHD7):c.6165_6166del (p.Tyr2056fs)
|
rs886039528
|
|
|
NM_017780.4(CHD7):c.6199C>T (p.Gln2067Ter)
|
rs766862122
|
|
|
NM_017780.4(CHD7):c.619C>T (p.Gln207Ter)
|
|
|
|
NM_017780.4(CHD7):c.6217C>T (p.Gln2073Ter)
|
rs2150809777
|
|
|
NM_017780.4(CHD7):c.6242del (p.Cys2081fs)
|
|
|
|
NM_017780.4(CHD7):c.6272G>A (p.Trp2091Ter)
|
rs1805529214
|
|
|
NM_017780.4(CHD7):c.6273G>T (p.Trp2091Cys)
|
rs2150809927
|
|
|
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg)
|
rs587783451
|
|
|
NM_017780.4(CHD7):c.6289G>C (p.Asp2097His)
|
|
|
|
NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter)
|
rs875989879
|
|
|
NM_017780.4(CHD7):c.6292del (p.Arg2098fs)
|
rs1060499560
|
|
|
NM_017780.4(CHD7):c.6322G>A (p.Gly2108Arg)
|
rs121434343
|
|
|
NM_017780.4(CHD7):c.6341_6358dup (p.Asp2119_Pro2120insHisHisIleLeuAsnAsp)
|
rs1805535866
|
|
|
NM_017780.4(CHD7):c.634C>T (p.Gln212Ter)
|
rs2150578792
|
|
|
NM_017780.4(CHD7):c.635del (p.Gln212fs)
|
rs1586249038
|
|
|
NM_017780.4(CHD7):c.6401del (p.Asn2134fs)
|
rs1586446101
|
|
|
NM_017780.4(CHD7):c.6419_6423del (p.Thr2140fs)
|
|
|
|
NM_017780.4(CHD7):c.643C>T (p.Gln215Ter)
|
rs2150578812
|
|
|
NM_017780.4(CHD7):c.6446del (p.Gly2149fs)
|
rs797045470
|
|
|
NM_017780.4(CHD7):c.6473C>A (p.Ser2158Ter)
|
rs376056567
|
|
|
NM_017780.4(CHD7):c.6473del (p.Ser2158fs)
|
rs1563660938
|
|
|
NM_017780.4(CHD7):c.6514G>T (p.Glu2172Ter)
|
rs761214775
|
|
|
NM_017780.4(CHD7):c.6521_6525del (p.Lys2174fs)
|
|
|
|
NM_017780.4(CHD7):c.6526del (p.Glu2176fs)
|
rs797045471
|
|
|
NM_017780.4(CHD7):c.6531dup (p.Pro2178fs)
|
rs2150810800
|
|
|
NM_017780.4(CHD7):c.6607del (p.Ser2203fs)
|
|
|
|
NM_017780.4(CHD7):c.6641_6642del (p.Val2214fs)
|
rs2150811163
|
|
|
NM_017780.4(CHD7):c.667G>T (p.Gly223Ter)
|
rs1809060881
|
|
|
NM_017780.4(CHD7):c.6730_6733dup (p.Leu2245fs)
|
rs2150811416
|
|
|
NM_017780.4(CHD7):c.6737dup (p.Asp2247fs)
|
rs2150811446
|
|
|
NM_017780.4(CHD7):c.6757G>T (p.Glu2253Ter)
|
rs1057517956
|
|
|
NM_017780.4(CHD7):c.6775+1G>A
|
rs1805573066
|
|
|
NM_017780.4(CHD7):c.6775+1G>T
|
rs1805573066
|
|
|
NM_017780.4(CHD7):c.6817_6818del (p.Asn2273fs)
|
rs1805613575
|
|
|
NM_017780.4(CHD7):c.6825dup (p.Met2276fs)
|
rs797045472
|
|
|
NM_017780.4(CHD7):c.6841_6842insTA (p.Asp2281fs)
|
rs1554604441
|
|
|
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter)
|
rs587783454
|
|
|
NM_017780.4(CHD7):c.6883_6884insA (p.Ser2295fs)
|
|
|
|
NM_017780.4(CHD7):c.6888_6889del (p.Ala2297fs)
|
rs1563662791
|
|
|
NM_017780.4(CHD7):c.689C>A (p.Ser230Ter)
|
rs1809062715
|
|
|
NM_017780.4(CHD7):c.6936+2T>C
|
|
|
|
NM_017780.4(CHD7):c.6937-2A>G
|
rs1586451506
|
|
|
NM_017780.4(CHD7):c.6955C>A (p.Arg2319Ser)
|
rs121434341
|
|
|
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)
|
rs121434341
|
|
|
NM_017780.4(CHD7):c.6995G>A (p.Trp2332Ter)
|
rs794727569
|
|
|
NM_017780.4(CHD7):c.7078A>T (p.Lys2360Ter)
|
rs1805694320
|
|
|
NM_017780.4(CHD7):c.7123del (p.Ser2375fs)
|
|
|
|
NM_017780.4(CHD7):c.7132G>T (p.Glu2378Ter)
|
rs878975068
|
|
|
NM_017780.4(CHD7):c.7160C>G (p.Ser2387Ter)
|
rs2129644242
|
|
|
NM_017780.4(CHD7):c.7164+1G>A
|
rs2129644267
|
|
|
NM_017780.4(CHD7):c.7165-4A>G
|
rs1554604915
|
|
|
NM_017780.4(CHD7):c.7184_7185del (p.Ser2395fs)
|
rs1586452701
|
|
|
NM_017780.4(CHD7):c.718del (p.Gln240fs)
|
rs1563560493
|
|
|
NM_017780.4(CHD7):c.7222G>T (p.Glu2408Ter)
|
rs1341064149
|
|
|
NM_017780.4(CHD7):c.7246A>T (p.Lys2416Ter)
|
rs1586452965
|
|
|
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter)
|
rs587783455
|
|
|
NM_017780.4(CHD7):c.7258del (p.Leu2420fs)
|
|
|
|
NM_017780.4(CHD7):c.7262del (p.Met2421fs)
|
|
|
|
NM_017780.4(CHD7):c.7276del (p.Gln2426fs)
|
rs1805723571
|
|
|
NM_017780.4(CHD7):c.7282C>T (p.Arg2428Ter)
|
rs1320897198
|
|
|
NM_017780.4(CHD7):c.7282dup (p.Arg2428fs)
|
rs886040997
|
|
|
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter)
|
rs773047607
|
|
|
NM_017780.4(CHD7):c.7286_7287del (p.Glu2429fs)
|
rs1805724910
|
|
|
NM_017780.4(CHD7):c.7297del (p.Val2433fs)
|
rs1064793972
|
|
|
NM_017780.4(CHD7):c.7301C>G (p.Ser2434Ter)
|
|
|
|
NM_017780.4(CHD7):c.7312C>T (p.Gln2438Ter)
|
rs1060503188
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NM_017780.4(CHD7):c.7314del (p.Glu2439fs)
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NM_017780.4(CHD7):c.7344_7345del (p.Glu2450fs)
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rs1586453267
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NM_017780.4(CHD7):c.7356_7357dup (p.Ser2453fs)
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rs1586453329
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NM_017780.4(CHD7):c.7384_7387del (p.Ser2462fs)
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rs587783456
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NM_017780.4(CHD7):c.7436_7437insATTAA (p.Thr2480fs)
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NM_017780.4(CHD7):c.7540_7541dup (p.Arg2515fs)
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rs1586453824
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NM_017780.4(CHD7):c.7585del (p.His2529fs)
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rs2129653634
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NM_017780.4(CHD7):c.7663del (p.Arg2555fs)
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rs863224843
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NM_017780.4(CHD7):c.7681G>T (p.Gly2561Ter)
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rs774255090
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NM_017780.4(CHD7):c.7684C>T (p.Gln2562Ter)
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rs1563669203
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NM_017780.4(CHD7):c.7701_7702del (p.Arg2568fs)
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rs1805943625
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NM_017780.4(CHD7):c.7710del (p.Val2571fs)
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rs2129704530
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NM_017780.4(CHD7):c.7711_7718del (p.Val2571fs)
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NM_017780.4(CHD7):c.7763A>G (p.Asn2588Ser)
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rs1554606033
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NM_017780.4(CHD7):c.7776del (p.Glu2593fs)
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NM_017780.4(CHD7):c.7781G>A (p.Trp2594Ter)
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rs748126701
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NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs)
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NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter)
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rs886040998
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NM_017780.4(CHD7):c.7803C>A (p.Tyr2601Ter)
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rs1563669432
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NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter)
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rs1563669432
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NM_017780.4(CHD7):c.7824T>A (p.Tyr2608Ter)
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NM_017780.4(CHD7):c.7824T>G (p.Tyr2608Ter)
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rs1586460329
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NM_017780.4(CHD7):c.7840_7841dup (p.Asp2614fs)
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NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter)
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rs1064793346
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NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter)
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rs587783457
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NM_017780.4(CHD7):c.7913_7914del (p.Ile2638fs)
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NM_017780.4(CHD7):c.7930_7934del (p.Glu2644fs)
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NM_017780.4(CHD7):c.7936dup (p.Arg2646fs)
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rs2129721609
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NM_017780.4(CHD7):c.7940_7941dup (p.Pro2648fs)
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rs797045473
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NM_017780.4(CHD7):c.7956del (p.Lys2652fs)
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rs2129721740
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NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter)
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rs587783458
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NM_017780.4(CHD7):c.7967del (p.Lys2656fs)
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rs2129721927
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NM_017780.4(CHD7):c.7977_8063delinsCTCA (p.Gly2660fs)
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rs1806048148
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NM_017780.4(CHD7):c.8015G>A (p.Trp2672Ter)
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rs1563670964
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NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter)
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rs748504264
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NM_017780.4(CHD7):c.8049del (p.Asp2684fs)
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rs1586463029
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NM_017780.4(CHD7):c.8055G>A (p.Trp2685Ter)
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rs587783459
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NM_017780.4(CHD7):c.8064del (p.Ile2688fs)
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rs2129726316
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NM_017780.4(CHD7):c.8067del (p.Lys2690fs)
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rs1554606375
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NM_017780.4(CHD7):c.8068_8069insTAAC (p.Lys2690fs)
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rs1806054045
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NM_017780.4(CHD7):c.8076+1G>C
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rs1563671108
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NM_017780.4(CHD7):c.8077-1G>C
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rs1586466948
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NM_017780.4(CHD7):c.8077-2A>G
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rs1806173195
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NM_017780.4(CHD7):c.807del (p.Ala270fs)
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rs1586249559
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NM_017780.4(CHD7):c.8105dup (p.Leu2703fs)
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NM_017780.4(CHD7):c.8360del (p.Gly2787fs)
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rs2129761877
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NM_017780.4(CHD7):c.8416del (p.Leu2806fs)
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NM_017780.4(CHD7):c.841C>T (p.Gln281Ter)
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rs2150579361
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NM_017780.4(CHD7):c.8456del (p.Pro2819fs)
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rs2129764240
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NM_017780.4(CHD7):c.8546del (p.Glu2849fs)
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rs2129765592
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NM_017780.4(CHD7):c.8549_8555del (p.Asn2850fs)
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rs1563674316
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NM_017780.4(CHD7):c.8570_8571del (p.Asp2856_Ser2857insTer)
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NM_017780.4(CHD7):c.8606_8607del (p.Ser2869fs)
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NM_017780.4(CHD7):c.8618_8634del (p.Ser2873fs)
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rs1586468521
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NM_017780.4(CHD7):c.862C>T (p.Gln288Ter)
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rs1554581399
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NM_017780.4(CHD7):c.8682_8683insT (p.Leu2895fs)
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rs1563674576
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NM_017780.4(CHD7):c.8702del (p.Gly2901fs)
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NM_017780.4(CHD7):c.8730_8731del (p.Pro2911fs)
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rs886041000
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NM_017780.4(CHD7):c.8744dup (p.Leu2916fs)
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rs1554607313
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NM_017780.4(CHD7):c.889C>T (p.Gln297Ter)
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rs1586249808
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NM_017780.4(CHD7):c.8955dup (p.Gly2986fs)
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NM_017780.4(CHD7):c.8962dup (p.Asp2988fs)
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rs771806027
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NM_017780.4(CHD7):c.91G>T (p.Glu31Ter)
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NM_017780.4(CHD7):c.920C>G (p.Ser307Ter)
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NM_017780.4(CHD7):c.925C>T (p.Gln309Ter)
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rs1436515577
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NM_017780.4(CHD7):c.927_928del (p.Tyr310fs)
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NM_017780.4(CHD7):c.934C>T (p.Arg312Ter)
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rs886041166
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