NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)
|
rs140179844
|
0.00117
|
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala)
|
rs398124329
|
0.00004
|
NM_152564.5(VPS13B):c.5077-13G>A
|
rs376055963
|
0.00004
|
NM_152564.5(VPS13B):c.11745+5G>A
|
rs398124328
|
0.00003
|
NM_152564.5(VPS13B):c.2935-4C>T
|
rs207469601
|
0.00003
|
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter)
|
rs559590419
|
0.00001
|
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter)
|
rs145741622
|
0.00001
|
NM_152564.5(VPS13B):c.11223T>G (p.Ile3741Met)
|
rs267601674
|
0.00001
|
NM_152564.5(VPS13B):c.1302+2dup
|
rs766708621
|
0.00001
|
NM_152564.5(VPS13B):c.2651-10T>G
|
rs398124330
|
0.00001
|
NM_017890.5(VPS13B):c.4159_4160delinsAAG (p.Leu1387fs)
|
rs1554824897
|
|
NM_017890.5(VPS13B):c.4188A>T (p.Gln1396His)
|
rs768432188
|
|
NM_017890.5(VPS13B):c.4196G>A (p.Gly1399Asp)
|
rs1554824936
|
|
NM_017890.5(VPS13B):c.4228_4231dup (p.Arg1411fs)
|
rs1554824976
|
|
NM_017890.5(VPS13B):c.4235C>A (p.Thr1412Asn)
|
rs1554824983
|
|
NM_017890.5(VPS13B):c.4250C>G (p.Pro1417Arg)
|
rs1554825009
|
|
NM_017890.5(VPS13B):c.4272C>G (p.Phe1424Leu)
|
rs1554825023
|
|
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)
|
rs1427643616
|
|
NM_152564.5(VPS13B):c.10175ACA[1] (p.Asn3393del)
|
rs1554581280
|
|
NM_152564.5(VPS13B):c.10352_10354del (p.Ala3451del)
|
rs1554581420
|
|
NM_152564.5(VPS13B):c.10426T>C (p.Cys3476Arg)
|
rs886062549
|
|
NM_152564.5(VPS13B):c.11134GAG[1] (p.Glu3713del)
|
rs781133717
|
|
NM_152564.5(VPS13B):c.11491_11493dup (p.Val3831dup)
|
rs1554588147
|
|
NM_152564.5(VPS13B):c.11783ACA[1] (p.Asn3929del)
|
rs1554590369
|
|
NM_152564.5(VPS13B):c.11814_11816dup (p.Ser3939dup)
|
rs1236948038
|
|
NM_152564.5(VPS13B):c.11838TTC[1] (p.Ser3948del)
|
rs1554590420
|
|
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs)
|
rs1554590433
|
|
NM_152564.5(VPS13B):c.11892_11895dup (p.Lys3966delinsCysTer)
|
rs1554590486
|
|
NM_152564.5(VPS13B):c.11899dup (p.Thr3967fs)
|
rs1554590501
|
|
NM_152564.5(VPS13B):c.11901_11904dup (p.His3969fs)
|
rs1554590506
|
|
NM_152564.5(VPS13B):c.11906_11911dup (p.His3969_Tyr3970dup)
|
rs1554590515
|
|
NM_152564.5(VPS13B):c.11907_11908insG (p.Tyr3970fs)
|
rs1554590537
|
|
NM_152564.5(VPS13B):c.11917_11919dup (p.Asp3973dup)
|
rs1554590552
|
|
NM_152564.5(VPS13B):c.11964_11984dup (p.Asn3989_Gly3995dup)
|
rs1554590631
|
|
NM_152564.5(VPS13B):c.11965_11966dup (p.Asn3989fs)
|
rs1554590620
|
|
NM_152564.5(VPS13B):c.11967_11968dup (p.Lys3990fs)
|
rs1554590636
|
|
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter)
|
rs769983613
|
|
NM_152564.5(VPS13B):c.1206+40T>C
|
rs1554625938
|
|
NM_152564.5(VPS13B):c.1261_1272del (p.Lys421_Leu424del)
|
rs1554633843
|
|
NM_152564.5(VPS13B):c.2034TAC[1] (p.Thr680del)
|
rs1554645561
|
|
NM_152564.5(VPS13B):c.2579_2584dup (p.Cys861_Ser862insAsnCys)
|
rs1554706171
|
|
NM_152564.5(VPS13B):c.3402_3437del (p.Gln1135_Leu1146del)
|
rs1554793589
|
|
NM_152564.5(VPS13B):c.3503delinsAAAA (p.Gly1168delinsGluLys)
|
rs1554806874
|
|
NM_152564.5(VPS13B):c.3751A>T (p.Thr1251Ser)
|
rs184693266
|
|
NM_152564.5(VPS13B):c.4159C>A (p.Pro1387Thr)
|
rs1554824649
|
|
NM_152564.5(VPS13B):c.4196T>C (p.Val1399Ala)
|
rs1554824675
|
|
NM_152564.5(VPS13B):c.4218_4222dup (p.Val1408fs)
|
rs1554824678
|
|
NM_152564.5(VPS13B):c.4224+1G>C
|
rs376982982
|
|
NM_152564.5(VPS13B):c.4224+556A>G
|
rs1554824890
|
|
NM_152564.5(VPS13B):c.4424_4429del (p.Asp1475_Ile1476del)
|
rs1554826499
|
|
NM_152564.5(VPS13B):c.4687A>G (p.Met1563Val)
|
rs886062541
|
|
NM_152564.5(VPS13B):c.4950-2dup
|
rs1554852944
|
|
NM_152564.5(VPS13B):c.4971_4973del (p.Arg1658del)
|
rs770497996
|
|
NM_152564.5(VPS13B):c.5908+2dup
|
rs587777381
|
|
NM_152564.5(VPS13B):c.7969_7983del (p.Gly2657_Trp2661del)
|
rs1554560677
|
|
NM_152564.5(VPS13B):c.8499_8501del (p.Ile2834del)
|
rs1554566693
|
|
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del)
|
rs549810522
|
|
NM_152564.5(VPS13B):c.8793-7_8793-6delinsT
|
rs756641209
|
|
NM_152564.5(VPS13B):c.9943G>T (p.Val3315Phe)
|
rs116746734
|
|