NM_017780.4(CHD7):c.6184C>T (p.Arg2062Trp)
|
rs886063038
|
0.00002
|
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala)
|
rs780597592
|
0.00001
|
NM_017780.4(CHD7):c.6956G>A (p.Arg2319His)
|
rs765943226
|
0.00001
|
GRCh37/hg19 8q12.2(chr8:61750227-61750394)x3
|
|
|
NC_000008.10:g.(61769448_61773462)_(61773685_61774754)del
|
|
|
NM_017780.4(CHD7):c.1061del (p.Pro354fs)
|
rs1554581501
|
|
NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter)
|
rs727503860
|
|
NM_017780.4(CHD7):c.1339C>T (p.Gln447Ter)
|
rs2150580758
|
|
NM_017780.4(CHD7):c.1342_1343del (p.Arg448fs)
|
rs1554581674
|
|
NM_017780.4(CHD7):c.1597_1598insT (p.His533fs)
|
rs1554581814
|
|
NM_017780.4(CHD7):c.2238G>C (p.Gln746His)
|
|
|
NM_017780.4(CHD7):c.2352dup (p.Asn785fs)
|
|
|
NM_017780.4(CHD7):c.2377-1G>A
|
rs2150711063
|
|
NM_017780.4(CHD7):c.2377-2A>G
|
|
|
NM_017780.4(CHD7):c.2377G>T (p.Glu793Ter)
|
|
|
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter)
|
rs1554593049
|
|
NM_017780.4(CHD7):c.2442+1G>A
|
rs1085307582
|
|
NM_017780.4(CHD7):c.2544del (p.Asp849fs)
|
|
|
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter)
|
rs1563625351
|
|
NM_017780.4(CHD7):c.2613+1G>A
|
rs587783432
|
|
NM_017780.4(CHD7):c.2613+1G>T
|
rs587783432
|
|
NM_017780.4(CHD7):c.2613+1del
|
rs1060503189
|
|
NM_017780.4(CHD7):c.2613G>T (p.Glu871Asp)
|
rs2150739129
|
|
NM_017780.4(CHD7):c.2731C>T (p.Leu911Phe)
|
rs886039881
|
|
NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter)
|
rs367557471
|
|
NM_017780.4(CHD7):c.2910_2925del (p.Glu970_Tyr971insTer)
|
rs1554597507
|
|
NM_017780.4(CHD7):c.2915A>G (p.Gln972Arg)
|
rs1554597512
|
|
NM_017780.4(CHD7):c.2958-3A>G
|
|
|
NM_017780.4(CHD7):c.2990T>C (p.Leu997Ser)
|
rs2150750132
|
|
NM_017780.4(CHD7):c.3059T>C (p.Leu1020Ser)
|
rs1057521077
|
|
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val)
|
rs121434338
|
|
NM_017780.4(CHD7):c.3094_3114del (p.Glu1032_Trp1038del)
|
rs1804098493
|
|
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter)
|
rs1554597716
|
|
NM_017780.4(CHD7):c.3149_3156delinsGTC (p.Gln1050fs)
|
|
|
NM_017780.4(CHD7):c.3201+1G>A
|
rs1804103264
|
|
NM_017780.4(CHD7):c.3201+1G>T
|
rs1804103264
|
|
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter)
|
rs886040985
|
|
NM_017780.4(CHD7):c.3209del (p.Val1070fs)
|
rs1554597952
|
|
NM_017780.4(CHD7):c.3226A>G (p.Lys1076Glu)
|
rs1804153455
|
|
NM_017780.4(CHD7):c.3226_3227del (p.Lys1076fs)
|
rs1064796926
|
|
NM_017780.4(CHD7):c.3232C>T (p.His1078Tyr)
|
rs1064795519
|
|
NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe)
|
rs768184220
|
|
NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile)
|
rs1804154342
|
|
NM_017780.4(CHD7):c.3269_3272del (p.Asp1090fs)
|
|
|
NM_017780.4(CHD7):c.3295T>C (p.Trp1099Arg)
|
rs1586393514
|
|
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg)
|
rs1586393556
|
|
NM_017780.4(CHD7):c.3302G>A (p.Cys1101Tyr)
|
rs1554598013
|
|
NM_017780.4(CHD7):c.3322C>T (p.His1108Tyr)
|
rs1064796196
|
|
NM_017780.4(CHD7):c.3378+5G>A
|
|
|
NM_017780.4(CHD7):c.3378+5G>T
|
rs1554598029
|
|
NM_017780.4(CHD7):c.3379-2A>C
|
rs864622523
|
|
NM_017780.4(CHD7):c.3383del (p.His1128fs)
|
rs2150761067
|
|
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met)
|
rs1064793083
|
|
NM_017780.4(CHD7):c.343del (p.His115fs)
|
rs2150577964
|
|
NM_017780.4(CHD7):c.3478del (p.Thr1160fs)
|
|
|
NM_017780.4(CHD7):c.3482_3483del (p.Thr1161fs)
|
|
|
NM_017780.4(CHD7):c.3522+1del
|
rs1064796255
|
|
NM_017780.4(CHD7):c.3523-19A>T
|
|
|
NM_017780.4(CHD7):c.3523-2A>C
|
rs2150764574
|
|
NM_017780.4(CHD7):c.3547A>C (p.Lys1183Gln)
|
rs1804452117
|
|
NM_017780.4(CHD7):c.3606_3616dup (p.Ile1206fs)
|
rs1554599462
|
|
NM_017780.4(CHD7):c.3616del (p.Ile1206fs)
|
rs1804454376
|
|
NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp)
|
rs886040988
|
|
NM_017780.4(CHD7):c.3642G>T (p.Gln1214His)
|
|
|
NM_017780.4(CHD7):c.3688del (p.Ser1230fs)
|
|
|
NM_017780.4(CHD7):c.3757_3778+7del
|
|
|
NM_017780.4(CHD7):c.3761A>C (p.His1254Pro)
|
rs2150765100
|
|
NM_017780.4(CHD7):c.378C>A (p.Tyr126Ter)
|
rs1563559596
|
|
NM_017780.4(CHD7):c.3819_3820del (p.His1273fs)
|
|
|
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro)
|
rs864309609
|
|
NM_017780.4(CHD7):c.3937T>C (p.Ser1313Pro)
|
|
|
NM_017780.4(CHD7):c.3989+2T>G
|
|
|
NM_017780.4(CHD7):c.3990-2A>C
|
|
|
NM_017780.4(CHD7):c.4088T>A (p.Leu1363His)
|
rs1064796242
|
|
NM_017780.4(CHD7):c.4195A>G (p.Arg1399Gly)
|
rs1586419356
|
|
NM_017780.4(CHD7):c.4218C>A (p.Ser1406Arg)
|
rs1804800800
|
|
NM_017780.4(CHD7):c.4247C>G (p.Thr1416Arg)
|
rs770166812
|
|
NM_017780.4(CHD7):c.4353+3A>G
|
rs587783441
|
|
NM_017780.4(CHD7):c.4354-6A>G
|
|
|
NM_017780.4(CHD7):c.4406A>G (p.Tyr1469Cys)
|
rs2150779357
|
|
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter)
|
rs587783442
|
|
NM_017780.4(CHD7):c.4533G>A (p.Lys1511=)
|
rs1064793084
|
|
NM_017780.4(CHD7):c.4644+5G>C
|
|
|
NM_017780.4(CHD7):c.4644+5G>T
|
|
|
NM_017780.4(CHD7):c.4645-1G>C
|
|
|
NM_017780.4(CHD7):c.4654G>T (p.Val1552Phe)
|
rs1586426507
|
|
NM_017780.4(CHD7):c.4669A>G (p.Arg1557Gly)
|
rs1804990594
|
|
NM_017780.4(CHD7):c.4787A>G (p.Asp1596Gly)
|
rs1057521078
|
|
NM_017780.4(CHD7):c.4787A>T (p.Asp1596Val)
|
rs1057521078
|
|
NM_017780.4(CHD7):c.4835del (p.Asn1612fs)
|
rs1554601654
|
|
NM_017780.4(CHD7):c.4928G>A (p.Cys1643Tyr)
|
|
|
NM_017780.4(CHD7):c.4985del (p.Ser1662fs)
|
rs1060499937
|
|
NM_017780.4(CHD7):c.4995G>A (p.Trp1665Ter)
|
|
|
NM_017780.4(CHD7):c.5051_5095del (p.Gly1684_Lys1699delinsGlu)
|
rs2150793887
|
|
NM_017780.4(CHD7):c.5210+1G>A
|
rs2150794309
|
|
NM_017780.4(CHD7):c.5210+2T>C
|
rs1554602587
|
|
NM_017780.4(CHD7):c.5210+3A>G
|
rs1554602588
|
|
NM_017780.4(CHD7):c.5210+5G>C
|
|
|
NM_017780.4(CHD7):c.5211-2_5227del
|
rs1805310101
|
|
NM_017780.4(CHD7):c.5227C>T (p.Arg1743Cys)
|
|
|
NM_017780.4(CHD7):c.5273A>G (p.Asp1758Gly)
|
|
|
NM_017780.4(CHD7):c.5300+216_5386delinsATCCAAACACACCATGT
|
|
|
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter)
|
rs1554603276
|
|
NM_017780.4(CHD7):c.535dup (p.Ala179fs)
|
rs2150578588
|
|
NM_017780.4(CHD7):c.5381T>C (p.Leu1794Pro)
|
rs1064795943
|
|
NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg)
|
rs1563656016
|
|
NM_017780.4(CHD7):c.5401C>A (p.His1801Asn)
|
rs1131692039
|
|
NM_017780.4(CHD7):c.5404+2T>C
|
|
|
NM_017780.4(CHD7):c.5404G>A (p.Gly1802Ser)
|
rs1554603293
|
|
NM_017780.4(CHD7):c.5405-17G>A
|
rs794727423
|
|
NM_017780.4(CHD7):c.5409T>G (p.Tyr1803Ter)
|
rs1021645395
|
|
NM_017780.4(CHD7):c.5436C>A (p.Asp1812Glu)
|
rs1586440484
|
|
NM_017780.4(CHD7):c.5436C>G (p.Asp1812Glu)
|
|
|
NM_017780.4(CHD7):c.5450T>G (p.Phe1817Cys)
|
rs587783445
|
|
NM_017780.4(CHD7):c.5480del (p.Lys1827fs)
|
|
|
NM_017780.4(CHD7):c.5504_5508delinsT (p.Gly1835fs)
|
rs1586440620
|
|
NM_017780.4(CHD7):c.5534G>A (p.Gly1845Glu)
|
|
|
NM_017780.4(CHD7):c.5607+1G>A
|
rs1554603672
|
|
NM_017780.4(CHD7):c.5744G>A (p.Arg1915Gln)
|
rs1024600310
|
|
NM_017780.4(CHD7):c.5894+1G>T
|
|
|
NM_017780.4(CHD7):c.5894+5G>A
|
rs1805486327
|
|
NM_017780.4(CHD7):c.5902AGA[1] (p.Arg1969del)
|
|
|
NM_017780.4(CHD7):c.5944G>T (p.Gly1982Trp)
|
rs1563659678
|
|
NM_017780.4(CHD7):c.5955del (p.Phe1985fs)
|
|
|
NM_017780.4(CHD7):c.5C>A (p.Ala2Glu)
|
rs1809000474
|
|
NM_017780.4(CHD7):c.6035A>T (p.Glu2012Val)
|
rs1805504949
|
|
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)
|
rs886040995
|
|
NM_017780.4(CHD7):c.6103+2T>C
|
|
|
NM_017780.4(CHD7):c.6104-2A>T
|
rs1805513214
|
|
NM_017780.4(CHD7):c.6186dup (p.Lys2063fs)
|
|
|
NM_017780.4(CHD7):c.6193C>G (p.Arg2065Gly)
|
rs1064794250
|
|
NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys)
|
rs1064794250
|
|
NM_017780.4(CHD7):c.6208dup (p.His2070fs)
|
|
|
NM_017780.4(CHD7):c.6236del (p.Lys2079fs)
|
|
|
NM_017780.4(CHD7):c.6239T>C (p.Leu2080Pro)
|
rs1064796615
|
|
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg)
|
rs587783451
|
|
NM_017780.4(CHD7):c.6371T>C (p.Phe2124Ser)
|
|
|
NM_017780.4(CHD7):c.6561T>A (p.Cys2187Ter)
|
rs1586446578
|
|
NM_017780.4(CHD7):c.6734del (p.Leu2245fs)
|
rs1563661595
|
|
NM_017780.4(CHD7):c.6756del (p.Glu2253fs)
|
rs1805571443
|
|
NM_017780.4(CHD7):c.6776-1G>A
|
|
|
NM_017780.4(CHD7):c.6854dup (p.Asp2285fs)
|
rs1586449004
|
|
NM_017780.4(CHD7):c.6936+2T>C
|
|
|
NM_017780.4(CHD7):c.709del (p.His237fs)
|
rs1809063870
|
|
NM_017780.4(CHD7):c.7164+1G>A
|
rs2129644267
|
|
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter)
|
rs773047607
|
|
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu)
|
rs1060503188
|
|
NM_017780.4(CHD7):c.7320del (p.Val2441fs)
|
rs2129649243
|
|
NM_017780.4(CHD7):c.7390_7419del (p.Lys2464_Pro2473del)
|
rs2129650387
|
|
NM_017780.4(CHD7):c.7456C>T (p.Gln2486Ter)
|
rs1805733963
|
|
NM_017780.4(CHD7):c.7593dup (p.Thr2532fs)
|
rs1805743392
|
|
NM_017780.4(CHD7):c.7648G>T (p.Glu2550Ter)
|
rs1554605973
|
|
NM_017780.4(CHD7):c.7782G>A (p.Trp2594Ter)
|
rs769587871
|
|
NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs)
|
|
|
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter)
|
rs886040998
|
|
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter)
|
rs1563669432
|
|
NM_017780.4(CHD7):c.7814_7815del (p.Met2605fs)
|
rs1805949598
|
|
NM_017780.4(CHD7):c.7971+1G>T
|
rs1554606274
|
|
NM_017780.4(CHD7):c.8027del (p.Asn2676fs)
|
|
|
NM_017780.4(CHD7):c.8063T>G (p.Ile2688Arg)
|
rs755066542
|
|
NM_017780.4(CHD7):c.8063_8064del (p.Ile2688fs)
|
rs1554606367
|
|
NM_017780.4(CHD7):c.8087del (p.Pro2696fs)
|
rs1554606910
|
|
NM_017780.4(CHD7):c.8094del (p.Met2699fs)
|
|
|
NM_017780.4(CHD7):c.830dup (p.Asn278fs)
|
rs1809075967
|
|
NM_017780.4(CHD7):c.8580_8581insT (p.Thr2861fs)
|
|
|
NM_017780.4(CHD7):c.862C>T (p.Gln288Ter)
|
rs1554581399
|
|
NM_017780.4(CHD7):c.925C>T (p.Gln309Ter)
|
rs1436515577
|
|
Single allele
|
rs1554581005
|
|