Summary Report of Mutation and Patient data in ALSoD

Mean : 49.87       Median : 53.5       Variance : 205.98       Standard Deviation : 14.35



GeneFALSSALSMaleFemaleBulbarLimbMean_Age_OnsetN
ALS2140113212214
ANG82211610175530
ARHGEF28 303012543
ATXN262618142306032
C9orf7258465351238155104
CHCHD1011276585613
CHGB404004534
CHMP2B033021693
CRYM011001671
DAO200102412
DCTN1604215556
ERBB4600015606
FIG4365454559
FUS7326474323724599
GLE1010001611
LUM033003533
MATR3131220145214
NEFH17460106010
OPTN1091093165119
PFN154210105310
SETX51427180251955
SOD1285441801511631148331
SPG11270131415121627
SQSTM159954105414
TAF15400403504
TARDBP5136573024695493
TUBA4A714408608
UBQLN2581234369614670
VAPB190210194419
VCP902018489

      
FALSSALSMaleFemaleBulbarLimbOverall Mean AgeTotal
739263516411147824491013

Top 20 most frequent mutations recorded
DetailsGeneMutationPatients
SelectC9orf72HREM104
SelectSETXLeu389Ser38
SelectFUSArg521His33
SelectSOD1Leu144Phe30
SelectUBQLN2Pro497His20
SelectSOD1Asp90Ala18
SelectTARDBPAla382Thr18
SelectVAPBPro56Ser18
SelectUBQLN2Thr487Ile17
SelectSOD1Glu21Gly15
SelectATXN2CAG repeat size 3214
SelectSOD1Cys6Ser14
SelectSOD1Leu106Val12
SelectFUSPro525Leu10
SelectSOD1Gly41Ser10
SelectSOD1Lys3Glu10
SelectSOD1Phe20Cys10
SelectSOD1Cys6Phe9
SelectSOD1Gly10Val9
SelectTARDBPMet337Val9