NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)
|
rs144539572
|
0.00008
|
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)
|
rs120074151
|
0.00004
|
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)
|
rs386834061
|
0.00002
|
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter)
|
rs180177354
|
0.00002
|
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter)
|
rs386834078
|
0.00002
|
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs)
|
rs786204533
|
0.00002
|
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)
|
rs180177365
|
0.00002
|
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter)
|
rs386834113
|
0.00002
|
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)
|
rs765998879
|
0.00001
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)
|
rs180177356
|
0.00001
|
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter)
|
rs120074152
|
0.00001
|
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)
|
rs386834080
|
0.00001
|
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)
|
rs386834086
|
0.00001
|
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter)
|
rs386834107
|
0.00001
|
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)
|
rs386834110
|
0.00001
|
NC_000008.10:g.(100115349_100123325)_(100182392_100205103)del
|
|
|
NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
|
|
|
NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
|
|
|
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)
|
rs1427643616
|
|
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs)
|
rs180177371
|
|
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter)
|
rs386834057
|
|
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs)
|
|
|
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs)
|
rs1554586953
|
|
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs)
|
rs386834066
|
|
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs)
|
rs1180933570
|
|
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs)
|
rs1161589003
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)
|
rs386834067
|
|
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs)
|
rs386834069
|
|
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs)
|
rs786204456
|
|
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs)
|
rs180177327
|
|
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)
|
|
|
NM_152564.5(VPS13B):c.4745+2T>C
|
rs386834091
|
|
NM_152564.5(VPS13B):c.5153_5154insC (p.Gln1719fs)
|
rs1563806122
|
|
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs)
|
rs1554853667
|
|
NM_152564.5(VPS13B):c.8446-1G>T
|
rs1554566596
|
|
NM_152564.5(VPS13B):c.8622-9A>G
|
rs386834116
|
|
NM_152564.5(VPS13B):c.8995-2A>G
|
rs1554569259
|
|
NM_152564.5(VPS13B):c.9331-1G>T
|
rs386834119
|
|
NM_152564.5(VPS13B):c.9331-1_9332delinsTTT
|
|
|
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)
|
rs886041185
|
|