GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CASK R28Linsufficiently evaluated pathogenicunknown
CASK Y268Hinsufficiently evaluated pathogenicunknown
CASK P396Sinsufficiently evaluated pathogenic, f=0.000unknown
CASK R612Kinsufficiently evaluated noneunknown
CASK R618Kinsufficiently evaluated noneunknown
CASK Q618Rinsufficiently evaluated not reviewedunknown
CASK Q624Rinsufficiently evaluated not reviewedunknown
CASK R639Xinsufficiently evaluated pathogenicunknown
CASK R641Kinsufficiently evaluated none, f=0.022unknown

(1 web hit)

var-GS18956-1100-36-ASM (hom)
CASK Q647Rinsufficiently evaluated not reviewedunknown
CASK D710Ginsufficiently evaluated pathogenicunknown
CASK W914Rinsufficiently evaluated pathogenicunknown
CASKIN1 K38Rinsufficiently evaluated none, f=0.007unknown var-GS19239-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
CASKIN1 C173Ginsufficiently evaluated not reviewedunknown CGI sample GS000006909
CASKIN1 A283Tinsufficiently evaluated not reviewed, f=0.013unknown var-GS19026-1100-36-ASM
CASKIN1 G397Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
CASKIN1 P617Ainsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CASKIN1 P720Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
CASKIN1 R784Qinsufficiently evaluated none, f=0.009unknown var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
CASKIN1 A904Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
CASKIN1 P1251Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CASKIN1 V1260Ginsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
CASKIN2 K149Rinsufficiently evaluated not reviewed, f=0.001unknown var-GS18501-1100-36-ASM
CASKIN2 S303Ninsufficiently evaluated noneunknown
CASKIN2 S385Ninsufficiently evaluated none, f=0.003unknown var-GS18517-1100-36-ASM
CASKIN2 T561Minsufficiently evaluated not reviewed, f=0.004unknown var-GS18504-1100-36-ASM
var-GS19704-1100-36-ASM
CASKIN2 L583Hinsufficiently evaluated not reviewedunknown
CASKIN2 R623Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
CASKIN2 L665Hinsufficiently evaluated not reviewedunknown
CASKIN2 R753Ginsufficiently evaluated not reviewedunknown
CASKIN2 R753Pinsufficiently evaluated not reviewedunknown
CASKIN2 E809Ginsufficiently evaluated noneunknown
CASKIN2 E816Kinsufficiently evaluated not reviewedunknown CGI sample GS000006909
CASKIN2 R835Cinsufficiently evaluated not reviewed, f=0.027unknown var-GS21767-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CASKIN2 R835Ginsufficiently evaluated not reviewedunknown
CASKIN2 R835Pinsufficiently evaluated not reviewedunknown
CASKIN2 P871Linsufficiently evaluated not reviewed, f=0.001unknown var-GS07357-1100-36-ASM
CASKIN2 E891Ginsufficiently evaluated none, f=0.943unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu3215A7 build 36 substitution variants (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS18947-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
CASKIN2 P919Linsufficiently evaluated not reviewed, f=0.004unknown var-GS18508-1100-36-ASM
CASKIN2 F927Linsufficiently evaluated noneunknown
CASKIN2 P982Linsufficiently evaluated noneunknown
CASKIN2 R993Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
CASKIN2 F1009Linsufficiently evaluated noneunknown
CASKIN2 G1015Rinsufficiently evaluated noneunknown
CASKIN2 P1064Linsufficiently evaluated noneunknown
CASKIN2 G1097Rinsufficiently evaluated none, f=0.006unknown var-GS18501-1100-36-ASM
var-GS19238-1100-36-ASM
CASKIN2 M1118Vinsufficiently evaluated not reviewedunknown
CASKIN2 A1162Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CASKIN2 M1200Vinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B02_200_37
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Total results: 49

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"GENE" or "GENE A123C":

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