NM_152564.5(VPS13B):c.7248-1G>A
|
rs763079458
|
0.00003
|
NM_152564.5(VPS13B):c.10061+1G>A
|
rs1200459145
|
0.00001
|
NM_152564.5(VPS13B):c.10867+1G>A
|
rs780902262
|
0.00001
|
NM_152564.5(VPS13B):c.147+1G>A
|
rs1057517029
|
0.00001
|
NM_152564.5(VPS13B):c.2824+2T>C
|
rs141703746
|
0.00001
|
NM_152564.5(VPS13B):c.3082+2T>C
|
rs1188811827
|
0.00001
|
NM_152564.5(VPS13B):c.3083-2A>C
|
rs1456528242
|
0.00001
|
NM_152564.5(VPS13B):c.4746-1G>C
|
rs768342041
|
0.00001
|
NM_152564.5(VPS13B):c.4949+2T>C
|
rs761273297
|
0.00001
|
NM_152564.5(VPS13B):c.7051-1G>A
|
rs930144563
|
0.00001
|
NM_152564.5(VPS13B):c.8097+1G>A
|
rs1813590716
|
0.00001
|
NM_152564.5(VPS13B):c.8792+1G>T
|
rs1415714103
|
0.00001
|
NC_000008.10:g.(?_100108520)_(100205305_?)dup
|
|
|
NC_000008.10:g.(?_100108530)_(100182401_?)dup
|
|
|
NC_000008.10:g.(?_100123306)_(100133735_?)dup
|
|
|
NC_000008.10:g.(?_100157931)_(100160219_?)del
|
|
|
NC_000008.10:g.(?_100205094)_(100205295_?)dup
|
|
|
NC_000008.10:g.(?_100205094)_(100287492_?)dup
|
|
|
NC_000008.10:g.(?_100396426)_(100479872_?)dup
|
|
|
NC_000008.10:g.(?_100443755)_(100443902_?)dup
|
|
|
NC_000008.10:g.(?_100568668)_(100673729_?)dup
|
|
|
NC_000008.10:g.(?_100654029)_(100654736_?)dup
|
|
|
NC_000008.10:g.(?_100711743)_(100712170_?)del
|
|
|
NC_000008.10:g.(?_100778144)_(100779154_?)del
|
|
|
NC_000008.10:g.(?_100821583)_(100821778_?)del
|
|
|
NC_000008.10:g.(?_100821603)_(100821758_?)del
|
|
|
NC_000008.10:g.(?_100882993)_(100883945_?)dup
|
|
|
NC_000008.11:g.(?_99134631)_(99511512_?)dup
|
|
|
NC_000008.11:g.(?_99192876)_(99209768_?)dup
|
|
|
NC_000008.11:g.(?_99209582)_(99275264_?)del
|
|
|
NM_017890.5(VPS13B):c.4158-2A>G
|
rs2133626470
|
|
NM_152564.5(VPS13B):c.10867+1G>T
|
rs780902262
|
|
NM_152564.5(VPS13B):c.10868-2A>G
|
|
|
NM_152564.5(VPS13B):c.11181_11215+10del
|
|
|
NM_152564.5(VPS13B):c.11392+1G>T
|
rs1554587021
|
|
NM_152564.5(VPS13B):c.11393-1G>C
|
|
|
NM_152564.5(VPS13B):c.11495+178_11507delinsCAG
|
|
|
NM_152564.5(VPS13B):c.11495+1G>A
|
|
|
NM_152564.5(VPS13B):c.1303-1G>C
|
rs1554634091
|
|
NM_152564.5(VPS13B):c.148-2A>G
|
rs768406797
|
|
NM_152564.5(VPS13B):c.1563+1G>T
|
rs1057516923
|
|
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=)
|
rs180177355
|
|
NM_152564.5(VPS13B):c.1652-2A>T
|
rs2132580903
|
|
NM_152564.5(VPS13B):c.1843+1G>A
|
|
|
NM_152564.5(VPS13B):c.2013+2341_2166del
|
|
|
NM_152564.5(VPS13B):c.2209-2A>G
|
|
|
NM_152564.5(VPS13B):c.2333+1G>T
|
rs1812243683
|
|
NM_152564.5(VPS13B):c.2516-2A>G
|
rs1554706114
|
|
NM_152564.5(VPS13B):c.2824+2T>G
|
rs141703746
|
|
NM_152564.5(VPS13B):c.291+1G>A
|
rs1057516857
|
|
NM_152564.5(VPS13B):c.291+2T>A
|
|
|
NM_152564.5(VPS13B):c.292-2A>G
|
rs386834079
|
|
NM_152564.5(VPS13B):c.2934+1G>T
|
rs775729058
|
|
NM_152564.5(VPS13B):c.2934+2T>A
|
|
|
NM_152564.5(VPS13B):c.2935-1G>A
|
rs2133312466
|
|
NM_152564.5(VPS13B):c.3082+1G>A
|
|
|
NM_152564.5(VPS13B):c.3083-1G>A
|
rs1563726973
|
|
NM_152564.5(VPS13B):c.3445+2T>A
|
|
|
NM_152564.5(VPS13B):c.3446-1G>A
|
|
|
NM_152564.5(VPS13B):c.3446-382_3463del
|
rs1588410519
|
|
NM_152564.5(VPS13B):c.3667-1G>A
|
rs750609612
|
|
NM_152564.5(VPS13B):c.3870+1G>A
|
rs764225649
|
|
NM_152564.5(VPS13B):c.3870+1G>T
|
rs764225649
|
|
NM_152564.5(VPS13B):c.412+1G>C
|
rs1057517295
|
|
NM_152564.5(VPS13B):c.412+2T>C
|
|
|
NM_152564.5(VPS13B):c.4157+2T>G
|
|
|
NM_152564.5(VPS13B):c.4225-1G>A
|
rs2133637043
|
|
NM_152564.5(VPS13B):c.4633+1G>A
|
|
|
NM_152564.5(VPS13B):c.4634-2A>G
|
rs2133668102
|
|
NM_152564.5(VPS13B):c.4746-1G>T
|
rs768342041
|
|
NM_152564.5(VPS13B):c.4950-1G>C
|
rs1554852945
|
|
NM_152564.5(VPS13B):c.5076+1G>C
|
|
|
NM_152564.5(VPS13B):c.5076+1G>T
|
|
|
NM_152564.5(VPS13B):c.5077-62_5084delinsAAGTAAGG
|
|
|
NM_152564.5(VPS13B):c.580+1G>A
|
rs1846848656
|
|
NM_152564.5(VPS13B):c.580+2T>C
|
|
|
NM_152564.5(VPS13B):c.581-1G>A
|
|
|
NM_152564.5(VPS13B):c.5908+2dup
|
rs587777381
|
|
NM_152564.5(VPS13B):c.6046+1G>T
|
rs750003804
|
|
NM_152564.5(VPS13B):c.7050+1G>T
|
rs1057516840
|
|
NM_152564.5(VPS13B):c.7247+2043_7403del
|
|
|
NM_152564.5(VPS13B):c.7248-1G>C
|
rs763079458
|
|
NM_152564.5(VPS13B):c.762+1G>A
|
|
|
NM_152564.5(VPS13B):c.762+2T>C
|
rs1588048848
|
|
NM_152564.5(VPS13B):c.763-1G>T
|
|
|
NM_152564.5(VPS13B):c.7779+1G>C
|
|
|
NM_152564.5(VPS13B):c.7779+1G>T
|
|
|
NM_152564.5(VPS13B):c.8098-1G>C
|
rs1554565484
|
|
NM_152564.5(VPS13B):c.8361+1G>A
|
rs542757501
|
|
NM_152564.5(VPS13B):c.8362-1G>C
|
|
|
NM_152564.5(VPS13B):c.8445+1G>C
|
|
|
NM_152564.5(VPS13B):c.8622-9A>G
|
rs386834116
|
|
NM_152564.5(VPS13B):c.8793-2A>G
|
|
|
NM_152564.5(VPS13B):c.8995-1G>A
|
|
|
NM_152564.5(VPS13B):c.8995-2A>G
|
rs1554569259
|
|
NM_152564.5(VPS13B):c.9183+1G>A
|
rs2130822351
|
|
NM_152564.5(VPS13B):c.9183+2T>G
|
|
|
NM_152564.5(VPS13B):c.9184-1G>A
|
|
|
NM_152564.5(VPS13B):c.9184-2A>G
|
|
|
NM_152564.5(VPS13B):c.9184-2_9184del
|
rs1057516807
|
|
NM_152564.5(VPS13B):c.9330+1G>C
|
rs756013171
|
|
NM_152564.5(VPS13B):c.937+1G>A
|
|
|
NM_152564.5(VPS13B):c.938-1G>C
|
rs2132515671
|
|
NM_152564.5(VPS13B):c.9742+1G>A
|
|
|
NM_152564.5(VPS13B):c.9742+2T>C
|
rs1434569440
|
|
NM_152564.5(VPS13B):c.9743-2A>C
|
rs1815345770
|
|
NM_152564.5(VPS13B):c.9743-5_9744del
|
|
|
NM_152564.5(VPS13B):c.9934_9942+5del
|
rs1554575693
|
|
NM_152564.5(VPS13B):c.9942+1G>A
|
rs1057517063
|
|
NM_152564.5(VPS13B):c.9942+1G>T
|
rs1057517063
|
|