NM_033305.3(VPS13A):c.3961-2A>C
|
rs1244139989
|
0.00004
|
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs)
|
rs951347128
|
0.00003
|
NM_033305.3(VPS13A):c.7953+1G>A
|
rs372141290
|
0.00002
|
NM_033305.3(VPS13A):c.188-2A>G
|
rs1312425146
|
0.00001
|
NM_033305.3(VPS13A):c.495+1G>A
|
rs1447585760
|
0.00001
|
NM_033305.3(VPS13A):c.7420-2A>C
|
rs1175632662
|
0.00001
|
NM_033305.3(VPS13A):c.7653-2A>G
|
rs779075858
|
0.00001
|
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter)
|
rs1055609567
|
0.00001
|
NM_033305.3(VPS13A):c.8035+1G>A
|
rs1244227519
|
0.00001
|
NM_033305.3(VPS13A):c.8325+1G>A
|
rs1459022689
|
0.00001
|
NM_033305.3(VPS13A):c.8907+2T>A
|
rs1479800564
|
0.00001
|
NC_000009.11:g.(?_79814851)_(79843190_?)dup
|
|
|
NC_000009.11:g.(?_79968430)_(79969529_?)del
|
|
|
NC_000009.11:g.(?_80018142)_(80018247_?)dup
|
|
|
NC_000009.11:g.(?_80020770)_(80022533_?)dup
|
|
|
NM_033305.3(VPS13A):c.1161+1G>T
|
|
|
NM_033305.3(VPS13A):c.14C>A (p.Ser5Ter)
|
rs2131030007
|
|
NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)
|
|
|
NM_033305.3(VPS13A):c.1A>T (p.Met1Leu)
|
rs2131029946
|
|
NM_033305.3(VPS13A):c.2037+1G>A
|
|
|
NM_033305.3(VPS13A):c.2038-1G>A
|
|
|
NM_033305.3(VPS13A):c.2252_2253insGA (p.Lys752fs)
|
rs1825188183
|
|
NM_033305.3(VPS13A):c.2427+1G>A
|
rs1327100271
|
|
NM_033305.3(VPS13A):c.2500del (p.Val834fs)
|
rs2131325474
|
|
NM_033305.3(VPS13A):c.2512+2T>C
|
rs2131325491
|
|
NM_033305.3(VPS13A):c.2513-2A>T
|
rs1037030970
|
|
NM_033305.3(VPS13A):c.2667+1G>T
|
rs2131331144
|
|
NM_033305.3(VPS13A):c.2668-2A>G
|
rs2131332247
|
|
NM_033305.3(VPS13A):c.2701del (p.Cys901fs)
|
rs1554879059
|
|
NM_033305.3(VPS13A):c.283+2T>G
|
rs2131123295
|
|
NM_033305.3(VPS13A):c.2964+2T>C
|
|
|
NM_033305.3(VPS13A):c.3114del (p.Lys1038fs)
|
|
|
NM_033305.3(VPS13A):c.3235+1G>T
|
|
|
NM_033305.3(VPS13A):c.3236-2A>G
|
rs2131350326
|
|
NM_033305.3(VPS13A):c.3340-2A>C
|
|
|
NM_033305.3(VPS13A):c.3507+1G>A
|
rs2131372085
|
|
NM_033305.3(VPS13A):c.3743_3746dup (p.Ser1249fs)
|
|
|
NM_033305.3(VPS13A):c.3812+1G>T
|
|
|
NM_033305.3(VPS13A):c.386-2A>G
|
rs2131140222
|
|
NM_033305.3(VPS13A):c.3961-2A>G
|
rs1244139989
|
|
NM_033305.3(VPS13A):c.4115-2A>C
|
|
|
NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs)
|
rs2131427489
|
|
NM_033305.3(VPS13A):c.4356del (p.Ser1452_Leu1453insTer)
|
|
|
NM_033305.3(VPS13A):c.4413-1G>A
|
rs2131429839
|
|
NM_033305.3(VPS13A):c.4413-205_4579del
|
|
|
NM_033305.3(VPS13A):c.4715del (p.Asn1572fs)
|
rs2131432786
|
|
NM_033305.3(VPS13A):c.4956+1G>A
|
rs1085307823
|
|
NM_033305.3(VPS13A):c.4957-2A>G
|
|
|
NM_033305.3(VPS13A):c.5415+1G>C
|
|
|
NM_033305.3(VPS13A):c.5415+2T>A
|
|
|
NM_033305.3(VPS13A):c.555+2T>A
|
|
|
NM_033305.3(VPS13A):c.556-2A>G
|
rs2131152462
|
|
NM_033305.3(VPS13A):c.5574+1G>A
|
rs1829731758
|
|
NM_033305.3(VPS13A):c.5830+1G>A
|
rs2131450525
|
|
NM_033305.3(VPS13A):c.5992-2A>T
|
|
|
NM_033305.3(VPS13A):c.6095+1G>A
|
rs1564735244
|
|
NM_033305.3(VPS13A):c.6378+1G>A
|
|
|
NM_033305.3(VPS13A):c.6379-1G>C
|
|
|
NM_033305.3(VPS13A):c.6379-2A>G
|
|
|
NM_033305.3(VPS13A):c.6774+1G>A
|
|
|
NM_033305.3(VPS13A):c.6774+2T>C
|
rs2131506184
|
|
NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter)
|
rs1830740171
|
|
NM_033305.3(VPS13A):c.696+2T>G
|
rs2131153753
|
|
NM_033305.3(VPS13A):c.7027-1G>A
|
|
|
NM_033305.3(VPS13A):c.7156-1G>C
|
|
|
NM_033305.3(VPS13A):c.7156-2A>T
|
rs1587628060
|
|
NM_033305.3(VPS13A):c.7253A>G (p.Asn2418Ser)
|
|
|
NM_033305.3(VPS13A):c.7290-1G>C
|
rs2131540817
|
|
NM_033305.3(VPS13A):c.7419+1G>A
|
rs763654348
|
|
NM_033305.3(VPS13A):c.754+1G>T
|
|
|
NM_033305.3(VPS13A):c.755-2A>G
|
|
|
NM_033305.3(VPS13A):c.7652+1G>A
|
|
|
NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs)
|
rs748828128
|
|
NM_033305.3(VPS13A):c.7806+1G>A
|
|
|
NM_033305.3(VPS13A):c.8029_8035+5del
|
|
|
NM_033305.3(VPS13A):c.8036-1G>A
|
|
|
NM_033305.3(VPS13A):c.8105+1G>A
|
rs1293371764
|
|
NM_033305.3(VPS13A):c.8106-2A>G
|
|
|
NM_033305.3(VPS13A):c.8209G>T (p.Glu2737Ter)
|
rs1057520049
|
|
NM_033305.3(VPS13A):c.8325+1G>T
|
|
|
NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter)
|
rs756865623
|
|
NM_033305.3(VPS13A):c.844_848del (p.Glu282fs)
|
|
|
NM_033305.3(VPS13A):c.8471_8471+3del
|
|
|
NM_033305.3(VPS13A):c.8554-1G>A
|
rs1832615773
|
|
NM_033305.3(VPS13A):c.8554-1G>C
|
rs1832615773
|
|
NM_033305.3(VPS13A):c.8554-2A>T
|
rs1832615643
|
|
NM_033305.3(VPS13A):c.8668-1G>A
|
rs2131587158
|
|
NM_033305.3(VPS13A):c.8668-1G>C
|
|
|
NM_033305.3(VPS13A):c.8744-2A>G
|
|
|
NM_033305.3(VPS13A):c.882+1G>A
|
|
|
NM_033305.3(VPS13A):c.882+2T>G
|
|
|
NM_033305.3(VPS13A):c.883-1G>A
|
|
|
NM_033305.3(VPS13A):c.883-1G>C
|
|
|
NM_033305.3(VPS13A):c.8907+2T>C
|
|
|
NM_033305.3(VPS13A):c.8954-2A>G
|
|
|
NM_033305.3(VPS13A):c.9078-1G>C
|
rs2131614057
|
|
NM_033305.3(VPS13A):c.9189+1G>A
|
|
|
NM_033305.3(VPS13A):c.9243_9246del (p.Asn3082fs)
|
|
|
NM_033305.3(VPS13A):c.9263T>G (p.Met3088Arg)
|
|
|
NM_033305.3(VPS13A):c.9275+1G>A
|
rs1239148255
|
|
NM_033305.3(VPS13A):c.9399+1G>A
|
|
|
NM_033305.3(VPS13A):c.9400-1G>T
|
|
|
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs)
|
rs1085307750
|
|
NM_033305.3(VPS13A):c.989+2T>G
|
rs2131177211
|
|
Single allele
|
|
|