Difference between revisions of "Fabry:Mapping point mutations/SNPdbe data"

From Bioinformatikpedia
(Created page with "<div style="float:left; border:thin solid lightgrey; margin: 0px 0px 20px 20px;"> <figtable id="tab:SNPdbe"> <caption>SNPs found in SNPdbe</caption> {| style="border-collapse: se…")
 
(New data...)
 
Line 1: Line 1:
  +
 
<div style="float:left; border:thin solid lightgrey; margin: 0px 0px 20px 20px;">
  
<div style="float:left; border:thin solid lightgrey; margin: 0px 0px 20px 20px;">
 
<figtable id="tab:SNPdbe">
  
<figtable id="tab:SNPdbe">
Line 14: Line 15:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by freq
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by freq
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 30
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 2
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| A20P
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| A20P
Line 21: Line 22:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 4
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 37
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 2
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| A29T
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| A29T
Line 28: Line 29:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 5
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 44
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 4
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N34S
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N34S
Line 35: Line 36:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 7
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 58
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 3
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| P40S
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| P40S
Line 42: Line 43:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar). Fabry's disease (PMD)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar). Fabry's disease (PMD)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 8
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 92
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| C56G
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| C56G
Line 49: Line 50:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 5
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 11
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 0
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 8
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| S65T
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| S65T
Line 56: Line 57:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 19
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 18
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| E66Q
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| E66Q
Line 63: Line 64:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 6
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 58
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 5
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| C94Y
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| C94Y
Line 70: Line 71:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 7
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 25
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R112C
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R112C
Line 77: Line 78:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 5
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 29
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| I117S
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| I117S
Line 84: Line 85:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 4
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 24
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 2
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R118H
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R118H
Line 91: Line 92:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 11
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 0
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 2
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R118C
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R118C
Line 98: Line 99:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by freq
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by freq
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 11
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -6
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 0
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| S126G
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| S126G
Line 105: Line 106:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by freq
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by freq
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 23
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 11
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N139S
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N139S
Line 112: Line 113:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 12
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 0
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 6
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| K140T
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| K140T
Line 119: Line 120:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| -1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 5
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 0
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 6
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| A143T
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| A143T
Line 126: Line 127:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster,freq
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster,freq
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 19
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 4
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| A143P
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| A143P
Line 133: Line 134:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar). Fabry disease (PMD)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar). Fabry disease (PMD)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster,freq
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster,freq
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 19
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 0
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 5
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| P146S
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| P146S
Line 140: Line 141:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar). Fabry disease (PMD)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar). Fabry disease (PMD)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 7
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 51
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 3
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| D155H
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| D155H
Line 147: Line 148:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 6
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 50
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 2
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| A156T
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| A156T
Line 154: Line 155:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 5
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 46
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 2
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| W162R
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| W162R
Line 161: Line 162:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 11
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 63
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -5
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 0
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| C174G
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| C174G
Line 168: Line 169:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 7
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 0
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 8
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| H186R
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| H186R
Line 175: Line 176:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 4
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 0
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 6
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| L191P
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| L191P
Line 182: Line 183:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 4
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 44
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| C202W
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| C202W
Line 189: Line 190:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar). Fabry disease (PMD)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar). Fabry disease (PMD)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 8
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 32
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -5
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 0
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N215S
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N215S
Line 196: Line 197:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 9
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 3
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R227Q
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R227Q
Line 203: Line 204:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 8
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 81
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 2
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| L243W
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| L243W
Line 210: Line 211:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 14
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R252T
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R252T
Line 217: Line 218:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 10
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 4
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| D264V
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| D264V
Line 224: Line 225:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 7
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 73
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -5
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 0
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| D264Y
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| D264Y
Line 231: Line 232:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 7
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 73
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 2
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| D266V
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| D266V
Line 238: Line 239:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 6
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 49
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -4
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| V269A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| V269A
Line 245: Line 246:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 13
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 2
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N272S
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N272S
Line 252: Line 253:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 5
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 33
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 0
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 8
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Q279E
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Q279E
Line 259: Line 260:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 4
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 16
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 6
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 59
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| I289V
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| I289V
Line 266: Line 267:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 1000Genome
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 1000Genome
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 5
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 34
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 9
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| A292T
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| A292T
Line 273: Line 274:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 24
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 0
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 4
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| M296V
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| M296V
Line 280: Line 281:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar). Atypical variant of Fabry's disease (PMD)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar). Atypical variant of Fabry's disease (PMD)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 4
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 11
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 8
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| M296I
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| M296I
Line 287: Line 288:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 4
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 11
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 5
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 32
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| S297F
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| S297F
Line 294: Line 295:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 24
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -5
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 0
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R301Q
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R301Q
Line 301: Line 302:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar). In Fabry disease (FD) (PMD)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar). In Fabry disease (FD) (PMD)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 4
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 22
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 3
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| D313Y
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| D313Y
Line 308: Line 309:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 1000Genome,freq,cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 1000Genome,freq,cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 0
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 4
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -4
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 0
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| V316I
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| V316I
Line 315: Line 316:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by freq
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by freq
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 4
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 30
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 16
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| P323T
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| P323T
Line 322: Line 323:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 4
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 24
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 7
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Q327K
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Q327K
Line 329: Line 330:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar). In Fabry disease (FD) (PMD)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar). In Fabry disease (FD) (PMD)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 5
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 24
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 3
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| G328A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| G328A
Line 336: Line 337:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 4
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 29
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 4
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 35
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| G328R
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| G328R
Line 343: Line 344:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 4
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 29
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R342Q
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R342Q
Line 350: Line 351:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar). Fabry disease (PMD)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar). Fabry disease (PMD)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 18
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R356W
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R356W
Line 357: Line 358:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 20
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 5
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 7
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| G361R
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| G361R
Line 364: Line 365:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 12
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 6
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R363H
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R363H
Line 371: Line 372:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 14
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 2
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| A368P
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| A368P
Line 378: Line 379:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by freq
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by freq
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 0
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 7
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 8
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| C382Y
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| C382Y
Line 385: Line 386:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 4
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 2
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 7
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| T410A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| T410A
Line 392: Line 393:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| fabry disease (SwissVar)
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 0
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 6
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -3
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| L415P
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| L415P
Line 399: Line 400:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 4
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 38
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| -5
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 0
 
|-
  
|-
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| M421V
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| M421V
Line 406: Line 407:
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N/A
 
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
  
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 0
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 3
−
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1
 +
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 9
 
|-
  
|-
 
|}
  
|}

Latest revision as of 07:34, 10 June 2012

<figtable id="tab:SNPdbe"> SNPs found in SNPdbe

SNP disease/non-disease Disease Exp_evidence Perc_wt Perc_mt
L3P non-disease N/A by freq 30 2
A20P disease fabry disease (SwissVar) by cluster 37 2
A29T non-disease N/A Not validated 44 4
N34S disease fabry disease (SwissVar) Not validated 58 3
P40S disease fabry disease (SwissVar). Fabry's disease (PMD) by cluster 92 1
C56G disease fabry disease (SwissVar) Not validated 11 8
S65T disease fabry disease (SwissVar) by cluster 19 18
E66Q disease fabry disease (SwissVar) Not validated 58 5
C94Y disease fabry disease (SwissVar) Not validated 25 1
R112C disease fabry disease (SwissVar) Not validated 29 1
I117S non-disease N/A by cluster 24 2
R118H non-disease N/A Not validated 11 2
R118C non-disease N/A by freq 11 0
S126G non-disease N/A by freq 23 11
N139S non-disease N/A Not validated 12 6
K140T non-disease N/A Not validated 5 6
A143T disease fabry disease (SwissVar) by cluster,freq 19 4
A143P disease fabry disease (SwissVar). Fabry disease (PMD) by cluster,freq 19 5
P146S disease fabry disease (SwissVar). Fabry disease (PMD) Not validated 51 3
D155H non-disease N/A Not validated 50 2
A156T disease fabry disease (SwissVar) by cluster 46 2
W162R disease fabry disease (SwissVar) by cluster 63 0
C174G non-disease N/A Not validated 7 8
H186R non-disease N/A Not validated 4 6
L191P non-disease N/A Not validated 44 1
C202W disease fabry disease (SwissVar). Fabry disease (PMD) Not validated 32 0
N215S disease fabry disease (SwissVar) by cluster 9 3
R227Q disease fabry disease (SwissVar) Not validated 81 2
L243W non-disease N/A Not validated 14 1
R252T non-disease N/A Not validated 10 4
D264V disease fabry disease (SwissVar) by cluster 73 0
D264Y disease fabry disease (SwissVar) Not validated 73 2
D266V disease fabry disease (SwissVar) by cluster 49 1
V269A disease fabry disease (SwissVar) by cluster 13 2
N272S disease fabry disease (SwissVar) by cluster 33 8
Q279E disease fabry disease (SwissVar) by cluster 16 59
I289V non-disease N/A 1000Genome 34 9
A292T non-disease N/A Not validated 24 4
M296V disease fabry disease (SwissVar). Atypical variant of Fabry's disease (PMD) by cluster 11 8
M296I disease fabry disease (SwissVar) by cluster 11 32
S297F disease fabry disease (SwissVar) by cluster 24 0
R301Q disease fabry disease (SwissVar). In Fabry disease (FD) (PMD) by cluster 22 3
D313Y disease fabry disease (SwissVar) 1000Genome,freq,cluster 4 0
V316I non-disease N/A by freq 30 16
P323T non-disease N/A Not validated 24 7
Q327K disease fabry disease (SwissVar). In Fabry disease (FD) (PMD) by cluster 24 3
G328A disease fabry disease (SwissVar) by cluster 29 35
G328R disease fabry disease (SwissVar) by cluster 29 1
R342Q disease fabry disease (SwissVar). Fabry disease (PMD) by cluster 18 1
R356W disease fabry disease (SwissVar) by cluster 20 7
G361R disease fabry disease (SwissVar) by cluster 12 6
R363H disease fabry disease (SwissVar) Not validated 14 2
A368P non-disease N/A by freq 7 8
C382Y non-disease N/A Not validated 4 7
T410A disease fabry disease (SwissVar) by cluster 6 1
L415P non-disease N/A Not validated 38 0
M421V non-disease N/A Not validated 3 9

</figtable>

Retrieved from "https://i12r-studfilesrv.informatik.tu-muenchen.de/wiki/index.php?title=Fabry:Mapping_point_mutations/SNPdbe_data&oldid=22046"