Summary Report of Mutation and Patient data in ALSoD

Mean : 47.22       Median : 53       Variance : 280.12       Standard Deviation : 16.74



GeneFALSSALSMaleFemaleBulbarLimbMean_Age_OnsetN
OPTN15914105194824
CHCHD1011276585613
ATXN262618142306032
C9orf7258465351238155104
CHMP2B033021693
MATR3131220145214
VCP902018489
DAO200102412
SOD1285441801511631148331
TAF15400403504
SQSTM1791154125016
ANG82211610175530
TARDBP58406335257955104
SETX51427180251955
TRPM7202002182
TUBA4A7465296011
PARK7202002242
PLEKHG5101001131
FIG4365454559
CRYM011001671
SS18L1303003713
LUM033003533
SPG11300151515151630
FUS77265044237645103
NEFH17460106010
VAPB190210194419
CHGB404004534
ARHGEF28 303012543
GLE1010001611
SYNE502305225
DCTN1604215556
PFN154210105310
SIGMAR1010101551
UBQLN26716404312714383
ALS2140113212214
TBK125011140255725
ERBB4600015606

      
FALSSALSMaleFemaleBulbarLimbOverall Mean AgeTotal
807275562445155896471093

Top 20 most frequent mutations recorded
DetailsGeneMutationPatients
SelectC9orf72HREM104
SelectSETXLeu389Ser38
SelectFUSArg521His33
SelectSOD1Leu144Phe30
SelectUBQLN2Pro497His20
SelectTARDBPAla382Thr19
SelectSOD1Asp90Ala18
SelectVAPBPro56Ser18
SelectUBQLN2Thr487Ile17
SelectSOD1Glu21Gly15
SelectATXN2CAG repeat size 3214
SelectSOD1Cys6Ser14
SelectSOD1Leu106Val12
SelectFUSPro525Leu11
SelectSOD1Gly41Ser10
SelectSOD1Lys3Glu10
SelectSOD1Phe20Cys10
SelectTBK1690-713del10
SelectSOD1Cys6Phe9
SelectSOD1Gly10Val9