NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)
|
rs36074608
|
0.15932
|
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg)
|
rs6468694
|
0.11916
|
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala)
|
rs7833870
|
0.09284
|
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=)
|
rs61753724
|
0.07191
|
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=)
|
rs61753726
|
0.01526
|
NM_152564.5(VPS13B):c.2934+14A>T
|
rs187151724
|
0.00690
|
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile)
|
rs61753722
|
0.00690
|
NM_152564.5(VPS13B):c.2451T>C (p.His817=)
|
rs114120664
|
0.00630
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485
|
0.00451
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)
|
rs111751379
|
0.00304
|
NM_152564.5(VPS13B):c.10824C>T (p.His3608=)
|
rs114818249
|
0.00126
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)
|
rs145208175
|
0.00068
|
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)
|
rs141046414
|
0.00054
|
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala)
|
rs138930771
|
0.00053
|
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)
|
rs201963516
|
0.00027
|
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala)
|
rs376652526
|
0.00012
|
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
|
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys)
|
rs138453594
|
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
|
|
|
NC_000008.10:g.(100287483_100396435)_(100403933_100443764)dup
|
|
|
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.11215+1641A>G
|
|
|
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.11967_11970dup (p.Ala3991Ter)
|
rs769983613
|
|
NM_152564.5(VPS13B):c.1376G>A (p.Gly459Glu)
|
rs1810005848
|
|
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs)
|
rs180177327
|
|
NM_152564.5(VPS13B):c.3G>A (p.Met1Ile)
|
rs1060499779
|
|
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)
|
|
|
NM_152564.5(VPS13B):c.4337G>A (p.Arg1446Gln)
|
|
|
NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del)
|
rs386834088
|
|
NM_152564.5(VPS13B):c.4745+2T>C
|
rs386834091
|
|
NM_152564.5(VPS13B):c.4949+3A>G
|
rs1824584392
|
|
NM_152564.5(VPS13B):c.5153_5154insC (p.Gln1719fs)
|
rs1563806122
|
|
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs)
|
rs1554853667
|
|
NM_152564.5(VPS13B):c.5167_5168delinsTC (p.Gln1723Ser)
|
|
|
NM_152564.5(VPS13B):c.6455-4dup
|
rs398124337
|
|
NM_152564.5(VPS13B):c.6657+3C>T
|
|
|
NM_152564.5(VPS13B):c.7462G>A (p.Asp2488Asn)
|
rs780602782
|
|
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.9127G>A (p.Glu3043Lys)
|
rs757673565
|
|
NM_152564.5(VPS13B):c.9331-1G>T
|
rs386834119
|
|
NM_152564.5(VPS13B):c.9331-1_9332delinsTTT
|
|
|
NM_152564.5(VPS13B):c.9331-2_9331-1del
|
rs764288792
|
|
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)
|
rs886041185
|
|