NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter)
|
rs943680446
|
0.00016
|
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter)
|
rs181011657
|
0.00014
|
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr)
|
rs552436294
|
0.00011
|
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly)
|
rs368654019
|
0.00004
|
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys)
|
rs745870321
|
0.00003
|
NM_001377.3(DYNC2H1):c.10024C>T (p.Arg3342Ter)
|
rs751891969
|
0.00002
|
NM_001377.3(DYNC2H1):c.10042+2T>G
|
rs1261505725
|
0.00002
|
NM_001377.3(DYNC2H1):c.11681C>G (p.Ser3894Ter)
|
rs776315442
|
0.00002
|
NM_001377.3(DYNC2H1):c.12156+1G>A
|
rs794727944
|
0.00002
|
NM_001377.3(DYNC2H1):c.1360+2del
|
rs780539887
|
0.00002
|
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs)
|
rs755338872
|
0.00002
|
NM_001377.3(DYNC2H1):c.8947-1G>T
|
rs727503908
|
0.00002
|
NM_001377.3(DYNC2H1):c.2235G>A (p.Trp745Ter)
|
rs1309577378
|
0.00001
|
NM_001377.3(DYNC2H1):c.244C>T (p.Arg82Ter)
|
rs1249901214
|
0.00001
|
NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter)
|
rs755305630
|
0.00001
|
NM_001377.3(DYNC2H1):c.5176C>T (p.Arg1726Ter)
|
rs772321133
|
0.00001
|
GRCh37/hg19 11q22.3(chr11:103128365-103282924)x1
|
|
|
GRCh37/hg19 11q22.3(chr11:103128365-103282941)x1
|
|
|
GRCh37/hg19 11q22.3(chr11:103200944-103454659)x1
|
|
|
GRCh37/hg19 11q22.3(chr11:103297733-103368100)x1
|
|
|
NM_001377.3(DYNC2H1):c.10109del (p.Leu3370fs)
|
rs431905500
|
|
NM_001377.3(DYNC2H1):c.10798_10799del (p.Met3600fs)
|
|
|
NM_001377.3(DYNC2H1):c.11650-1G>A
|
rs878852996
|
|
NM_001377.3(DYNC2H1):c.12462G>A (p.Trp4154Ter)
|
|
|
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter)
|
rs1565317399
|
|
NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter)
|
rs1260978141
|
|
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs)
|
rs1555042801
|
|
NM_001377.3(DYNC2H1):c.2386del (p.Arg796fs)
|
rs765454943
|
|
NM_001377.3(DYNC2H1):c.2549T>A (p.Leu850Ter)
|
|
|
NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val)
|
rs901629870
|
|
NM_001377.3(DYNC2H1):c.5846del (p.Glu1949fs)
|
rs794727595
|
|
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val)
|
rs963717773
|
|
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His)
|
rs137853031
|
|
NM_001377.3(DYNC2H1):c.7140+1G>A
|
rs757301333
|
|
NM_001377.3(DYNC2H1):c.729T>A (p.Tyr243Ter)
|
rs1565311145
|
|
NM_001377.3(DYNC2H1):c.7858C>T (p.Arg2620Ter)
|
|
|
NM_001377.3(DYNC2H1):c.8003T>G (p.Val2668Gly)
|
rs764468030
|
|
NM_001377.3(DYNC2H1):c.8145_8146delinsAT (p.Tyr2715_Gln2716delinsTer)
|
rs1565390180
|
|