NM_017780.3(CHD7):c.*2104T>A
|
rs16926520
|
0.11399
|
NM_023110.3(FGFR1):c.*2104del
|
rs201364530
|
0.00099
|
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=)
|
rs199675568
|
0.00023
|
NM_017780.4(CHD7):c.*1644A>G
|
rs886063053
|
0.00004
|
NM_001035235.4(SRA1):c.341G>A (p.Arg114His)
|
rs1306465994
|
0.00001
|
NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr)
|
rs367722051
|
0.00001
|
NM_017780.4(CHD7):c.6321C>T (p.His2107=)
|
rs778800676
|
0.00001
|
NC_000008.11:g.38463238_38470748del
|
|
|
NM_001166114.2(PNPLA6):c.3885dup (p.Ser1296fs)
|
rs2146123001
|
|
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)
|
rs1932477493
|
|
NM_017780.4(CHD7):c.*127del
|
rs11322994
|
|
NM_017780.4(CHD7):c.*1663AG[1]
|
rs761460675
|
|
NM_017780.4(CHD7):c.*338del
|
rs886063045
|
|
NM_017780.4(CHD7):c.-465GCG[8]
|
rs71245513
|
|
NM_017780.4(CHD7):c.-466_-461del
|
rs886063025
|
|
NM_017780.4(CHD7):c.-466delinsGGCGGCAGCG
|
rs886063026
|
|
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCG
|
rs886063026
|
|
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCAGCG
|
rs886063026
|
|
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCG
|
rs886063026
|
|
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCG
|
rs886063026
|
|
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCG
|
rs886063026
|
|
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCG
|
rs886063026
|
|
NM_017780.4(CHD7):c.-467_-466insGGCAGC
|
rs1554568913
|
|
NM_017780.4(CHD7):c.-490GGC[10]
|
rs886063023
|
|
NM_017780.4(CHD7):c.-490GGC[9]
|
rs886063023
|
|
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)
|
rs377139749
|
|
NM_017780.4(CHD7):c.892A>G (p.Thr298Ala)
|
rs886063033
|
|
NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del)
|
rs771806027
|
|
NM_144773.4(PROKR2):c.254G>A (p.Arg85His)
|
rs74315418
|
|
NM_207037.2(TCF12):c.20dup (p.Met8fs)
|
|
|