NM_017780.4(CHD7):c.4534-13T>G
|
rs114996731
|
0.01094
|
NM_017780.4(CHD7):c.657C>T (p.Gly219=)
|
rs113483301
|
0.00881
|
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=)
|
rs61742801
|
0.00476
|
NM_017780.4(CHD7):c.216T>C (p.Tyr72=)
|
rs16926453
|
0.00217
|
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly)
|
rs201083157
|
0.00029
|
NM_017780.4(CHD7):c.361G>A (p.Gly121Ser)
|
rs587783439
|
0.00004
|
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=)
|
rs587783449
|
0.00002
|
NM_017780.4(CHD7):c.1512A>G (p.Gln504=)
|
rs587783430
|
0.00001
|
NM_017780.4(CHD7):c.1246G>T (p.Gly416Ter)
|
rs587783428
|
|
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)
|
rs587783429
|
|
NM_017780.4(CHD7):c.1678dup (p.Glu560fs)
|
rs797045461
|
|
NM_017780.4(CHD7):c.191_194del (p.Thr64fs)
|
rs587783431
|
|
NM_017780.4(CHD7):c.2502_2509dup (p.His837fs)
|
rs797045463
|
|
NM_017780.4(CHD7):c.2613+1G>A
|
rs587783432
|
|
NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter)
|
rs797045465
|
|
NM_017780.4(CHD7):c.2643T>G (p.Tyr881Ter)
|
rs587783433
|
|
NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter)
|
rs587783434
|
|
NM_017780.4(CHD7):c.2830C>A (p.Arg944Ser)
|
rs587783435
|
|
NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs)
|
rs587783436
|
|
NM_017780.4(CHD7):c.3201+3A>T
|
rs587783437
|
|
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter)
|
rs886040985
|
|
NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter)
|
rs587783440
|
|
NM_017780.4(CHD7):c.4353+3A>G
|
rs587783441
|
|
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter)
|
rs587783442
|
|
NM_017780.4(CHD7):c.4634del (p.Ala1544_Leu1545insTer)
|
rs587783443
|
|
NM_017780.4(CHD7):c.4760C>T (p.Pro1587Leu)
|
rs587783444
|
|
NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter)
|
rs797045467
|
|
NM_017780.4(CHD7):c.528dup (p.Pro177fs)
|
rs797045468
|
|
NM_017780.4(CHD7):c.5450T>G (p.Phe1817Cys)
|
rs587783445
|
|
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter)
|
rs587783446
|
|
NM_017780.4(CHD7):c.5551G>T (p.Glu1851Ter)
|
rs587783447
|
|
NM_017780.4(CHD7):c.5638dup (p.Glu1880fs)
|
rs797045469
|
|
NM_017780.4(CHD7):c.5666-2A>C
|
rs587783448
|
|
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter)
|
rs587783450
|
|
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg)
|
rs587783451
|
|
NM_017780.4(CHD7):c.6356A>G (p.Asp2119Gly)
|
rs587783452
|
|
NM_017780.4(CHD7):c.6446del (p.Gly2149fs)
|
rs797045470
|
|
NM_017780.4(CHD7):c.6526del (p.Glu2176fs)
|
rs797045471
|
|
NM_017780.4(CHD7):c.6825dup (p.Met2276fs)
|
rs797045472
|
|
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter)
|
rs587783454
|
|
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter)
|
rs587783455
|
|
NM_017780.4(CHD7):c.7384_7387del (p.Ser2462fs)
|
rs587783456
|
|
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter)
|
rs587783457
|
|
NM_017780.4(CHD7):c.7940_7941dup (p.Pro2648fs)
|
rs797045473
|
|
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter)
|
rs587783458
|
|
NM_017780.4(CHD7):c.8055G>A (p.Trp2685Ter)
|
rs587783459
|
|