NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)
|
rs121917840
|
0.00010
|
NM_006261.5(PROP1):c.150del (p.Arg53fs)
|
rs587776683
|
0.00006
|
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)
|
rs121917839
|
0.00005
|
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys)
|
rs121917843
|
0.00003
|
NM_006261.5(PROP1):c.295C>T (p.Arg99Ter)
|
rs121917844
|
0.00003
|
NM_005149.3(TBX19):c.627C>G (p.Tyr209Ter)
|
rs140528998
|
0.00001
|
NM_006261.5(PROP1):c.218G>A (p.Arg73His)
|
rs121917842
|
0.00001
|
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter)
|
rs766673446
|
0.00001
|
NM_006261.5(PROP1):c.63del (p.Leu22fs)
|
rs780134343
|
0.00001
|
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)
|
rs587777167
|
0.00001
|
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505)
|
|
|
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)
|
|
|
NM_006261.5(PROP1):c.109+1G>A
|
|
|
NM_006261.5(PROP1):c.109+1G>T
|
rs1214465435
|
|
NM_006261.5(PROP1):c.112_124del (p.Ser38fs)
|
rs587776682
|
|
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)
|
rs193922688
|
|
NM_006261.5(PROP1):c.310del (p.Arg104fs)
|
rs786204663
|
|
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter)
|
rs121917845
|
|
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGG (p.Gln789_Ser790delinsArgLeuTrp)
|
rs1658202227
|
|
NM_017780.4(CHD7):c.1848del (p.Asp618fs)
|
rs1811207509
|
|
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs)
|
rs886040982
|
|
NM_017780.4(CHD7):c.282del (p.Asn96fs)
|
rs1563559321
|
|
NM_017780.4(CHD7):c.3364_3365del (p.Lys1122fs)
|
|
|
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)
|
rs794727293
|
|
NM_017780.4(CHD7):c.4940_4944delinsA (p.Leu1647fs)
|
|
|
NM_017780.4(CHD7):c.511C>T (p.Gln171Ter)
|
rs1563560018
|
|
NM_017780.4(CHD7):c.5300+1G>A
|
|
|
NM_017780.4(CHD7):c.5405-17G>A
|
rs794727423
|
|
NM_017780.4(CHD7):c.5607+1G>A
|
rs1554603672
|
|
NM_017780.4(CHD7):c.6936+2T>C
|
|
|
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)
|
rs121434341
|
|
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter)
|
rs1064793346
|
|
NM_019066.5(MAGEL2):c.1802del (p.Pro601fs)
|
rs398122416
|
|
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)
|
rs770374710
|
|
NM_019066.5(MAGEL2):c.3124C>T (p.Gln1042Ter)
|
rs398122418
|
|
NM_019066.5(MAGEL2):c.3181_3182del (p.Ile1061fs)
|
rs398122417
|
|
NM_025000.4(DCAF17):c.436del (p.Ala147fs)
|
rs797045038
|
|