NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)
|
rs137852959
|
0.00024
|
NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs)
|
rs779746050
|
0.00008
|
NM_001386393.1(PANK2):c.1112_1114del (p.Arg371_Glu372delinsGln)
|
rs766251466
|
0.00003
|
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs)
|
rs951347128
|
0.00003
|
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)
|
rs137852967
|
0.00002
|
NM_000146.4(FTL):c.286G>A (p.Ala96Thr)
|
rs104894685
|
0.00001
|
NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter)
|
rs137852968
|
0.00001
|
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys)
|
rs1555787646
|
0.00001
|
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala)
|
rs137852965
|
0.00001
|
NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp)
|
rs137852961
|
0.00001
|
NM_001386393.1(PANK2):c.502C>T (p.Arg168Cys)
|
rs137852966
|
0.00001
|
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys)
|
rs137852962
|
0.00001
|
NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter)
|
rs119477053
|
0.00001
|
NC_000009.12:g.77390734_77428010del
|
|
|
NG_008047.1:g.17267CAG[(54-68)]
|
|
|
NG_008165.1:g.12526CAR[46_?]
|
|
|
NG_008931.2:g.(188110_192927)_(194341_195522)del
|
|
|
NG_008931.2:g.(?_87553)_(87693_?)del
|
|
|
NM_000146.4(FTL):c.458dup (p.His153fs)
|
rs587776840
|
|
NM_000146.4(FTL):c.460dup (p.Arg154fs)
|
rs2122436083
|
|
NM_000146.4(FTL):c.469_484dup (p.Leu162fs)
|
rs398124640
|
|
NM_000146.4(FTL):c.498_499dup (p.Phe167fs)
|
rs1114167274
|
|
NM_000332.4(ATXN1):c.589CAG[36_38] (p.Gln208[36_38])
|
rs193922926
|
|
NM_001271604.4(JPH3):c.431CWG[41_?]
|
|
|
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn)
|
rs137852963
|
|
NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter)
|
rs137852969
|
|
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter)
|
rs137852960
|
|
NM_001386393.1(PANK2):c.600_606del (p.Phe201fs)
|
rs879253712
|
|
NM_001386393.1(PANK2):c.721T>C (p.Ser241Pro)
|
rs137852964
|
|
NM_001386393.1(PANK2):c.980T>C (p.Met327Thr)
|
rs28939088
|
|
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?])
|
rs1885090126
|
|
NM_004993.6(ATXN3):c.892CAG[8_36]
|
rs193922928
|
|
NM_021083.4(XK):c.1013del (p.Phe338fs)
|
rs1602159120
|
|
NM_021083.4(XK):c.508+1G>A
|
rs1602145991
|
|
NM_021083.4(XK):c.509-1G>A
|
rs1602158863
|
|
NM_021083.4(XK):c.880T>C (p.Cys294Arg)
|
rs28933690
|
|
NM_021083.4(XK):c.895C>T (p.Gln299Ter)
|
rs104894954
|
|
NM_021083.4(XK):c.938_951del (p.Asn313fs)
|
rs2146834690
|
|
NM_021083.4(XK):c.941G>A (p.Trp314Ter)
|
rs104894953
|
|
NM_033305.3(VPS13A):c.1305G>A (p.Trp435Ter)
|
rs761923202
|
|
NM_033305.3(VPS13A):c.269T>A (p.Ile90Lys)
|
rs119477052
|
|
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs)
|
rs781242821
|
|
NM_033305.3(VPS13A):c.8035G>A (p.Ala2679Thr)
|
rs1587653832
|
|
XK, 1-BP DEL
|
|
|