NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs)
|
rs779746050
|
0.00008
|
NM_033305.3(VPS13A):c.3889C>T (p.Arg1297Ter)
|
rs200280742
|
0.00004
|
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs)
|
rs951347128
|
0.00003
|
NM_033305.3(VPS13A):c.2191C>T (p.Arg731Ter)
|
rs771943305
|
0.00002
|
NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter)
|
rs199807227
|
0.00002
|
NM_033305.3(VPS13A):c.3232G>T (p.Glu1078Ter)
|
rs1827161118
|
0.00001
|
NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter)
|
rs119477053
|
0.00001
|
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter)
|
rs1055609567
|
0.00001
|
NM_033305.3(VPS13A):c.799C>T (p.Arg267Ter)
|
rs771004767
|
0.00001
|
NM_033305.3(VPS13A):c.9403C>T (p.Arg3135Ter)
|
rs148173878
|
0.00001
|
NC_000009.12:g.77390734_77428010del
|
|
|
NG_008931.2:g.(188110_192927)_(194341_195522)del
|
|
|
NG_008931.2:g.(?_87553)_(87693_?)del
|
|
|
NM_033305.3(VPS13A):c.1305G>A (p.Trp435Ter)
|
rs761923202
|
|
NM_033305.3(VPS13A):c.144+1G>C
|
|
|
NM_033305.3(VPS13A):c.2326C>T (p.Arg776Ter)
|
rs1417246536
|
|
NM_033305.3(VPS13A):c.2512+1G>A
|
|
|
NM_033305.3(VPS13A):c.269T>A (p.Ile90Lys)
|
rs119477052
|
|
NM_033305.3(VPS13A):c.2951T>A (p.Leu984Ter)
|
|
|
NM_033305.3(VPS13A):c.2953C>T (p.Gln985Ter)
|
rs1827048548
|
|
NM_033305.3(VPS13A):c.337C>T (p.Gln113Ter)
|
rs780664594
|
|
NM_033305.3(VPS13A):c.3499_3503del (p.Ser1167fs)
|
rs1827795601
|
|
NM_033305.3(VPS13A):c.4411C>T (p.Arg1471Ter)
|
rs1193250444
|
|
NM_033305.3(VPS13A):c.4918C>T (p.Gln1640Ter)
|
rs1829478568
|
|
NM_033305.3(VPS13A):c.555+1G>A
|
rs1590003601
|
|
NM_033305.3(VPS13A):c.5899del (p.Arg1967fs)
|
|
|
NM_033305.3(VPS13A):c.5909_5910del (p.Glu1970fs)
|
rs1251833565
|
|
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs)
|
rs781242821
|
|
NM_033305.3(VPS13A):c.6283del (p.Ser2095fs)
|
rs1587612257
|
|
NM_033305.3(VPS13A):c.6367_6374del (p.Tyr2123fs)
|
rs1485186943
|
|
NM_033305.3(VPS13A):c.672_676del (p.Tyr224_Ser226delinsTer)
|
rs2131153683
|
|
NM_033305.3(VPS13A):c.7214T>G (p.Leu2405Ter)
|
|
|
NM_033305.3(VPS13A):c.7419+1G>A
|
rs763654348
|
|
NM_033305.3(VPS13A):c.755-1G>A
|
|
|
NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs)
|
rs748828128
|
|
NM_033305.3(VPS13A):c.8035G>A (p.Ala2679Thr)
|
rs1587653832
|
|
NM_033305.3(VPS13A):c.8148del (p.Phe2719fs)
|
|
|
NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs)
|
rs1834577610
|
|