NM_007289.4(MME):c.1040A>G (p.Tyr347Cys)
|
rs138218277
|
0.00064
|
NM_002739.5(PRKCG):c.1382C>T (p.Ala461Val)
|
rs751774653
|
0.00002
|
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln)
|
rs759206588
|
0.00002
|
NM_018896.5(CACNA1G):c.6949G>A (p.Glu2317Lys)
|
rs767121010
|
0.00002
|
NM_004115.4(FGF14):c.71C>T (p.Pro24Leu)
|
rs757752994
|
0.00001
|
NM_006946.4(SPTBN2):c.4986-5T>G
|
rs1371679359
|
0.00001
|
NM_007289.4(MME):c.1735G>A (p.Gly579Ser)
|
rs767928746
|
0.00001
|
NM_013236.4(ATXN10):c.13A>G (p.Arg5Gly)
|
rs1296770412
|
0.00001
|
NM_015215.4(CAMTA1):c.2227G>A (p.Gly743Arg)
|
rs965685976
|
0.00001
|
NM_018896.5(CACNA1G):c.1998C>A (p.Ser666Arg)
|
rs1207224249
|
0.00001
|
NM_021814.5(ELOVL5):c.577C>T (p.Arg193Cys)
|
rs761391551
|
0.00001
|
NM_001128164.2(ATXN1):c.1804G>T (p.Ala602Ser)
|
rs1760808820
|
|
NM_001130823.3(DNMT1):c.2920C>T (p.Arg974Cys)
|
rs2089651800
|
|
NM_001130823.3(DNMT1):c.3042G>C (p.Glu1014Asp)
|
rs745780816
|
|
NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln)
|
rs867381855
|
|
NM_004115.4(FGF14):c.429C>A (p.Cys143Ter)
|
rs2035466147
|
|
NM_006946.4(SPTBN2):c.3236C>T (p.Ala1079Val)
|
rs763021473
|
|
NM_006946.4(SPTBN2):c.5504C>T (p.Ala1835Val)
|
rs1940531426
|
|
NM_006946.4(SPTBN2):c.6688G>C (p.Glu2230Gln)
|
rs1940196069
|
|
NM_006946.4(SPTBN2):c.7096C>T (p.Pro2366Ser)
|
rs1940076802
|
|
NM_006946.4(SPTBN2):c.901A>G (p.Met301Val)
|
rs897181468
|
|
NM_007289.4(MME):c.1946T>G (p.Ile649Ser)
|
rs184666602
|
|
NM_013236.4(ATXN10):c.116+4A>T
|
rs1160067775
|
|
NM_015215.4(CAMTA1):c.2473A>G (p.Ser825Gly)
|
rs765488241
|
|
NM_015215.4(CAMTA1):c.511-22_511-19del
|
rs2095751767
|
|
NM_015215.4(CAMTA1):c.851G>A (p.Arg284His)
|
rs767725186
|
|
NM_018896.5(CACNA1G):c.2185T>C (p.Trp729Arg)
|
rs2041195702
|
|
NM_018896.5(CACNA1G):c.4675C>T (p.Arg1559Cys)
|
rs756359036
|
|
NM_018896.5(CACNA1G):c.6485C>A (p.Pro2162His)
|
rs2053744294
|
|
NM_198994.3(TGM6):c.76C>T (p.Pro26Ser)
|
rs766248910
|
|