GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
RAI1 G90Ainsufficiently evaluated none, f=0.415unknown

(3 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM (hom)
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
var-GS07357-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
RAI1 P165Tinsufficiently evaluated none, f=0.339unknown

(4 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
hu34D5B9 exome
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
var-GS19703-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
RAI1 P204Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
RAI1 Q280Shiftinsufficiently evaluated not reviewedunknown hu34D5B9 exome
RAI1 A381Vinsufficiently evaluated none, f=0.003unknown var-GS20509-1100-36-ASM
RAI1 G613Rinsufficiently evaluated not reviewedunknown hu34D5B9 exome
RAI1 E821Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
RAI1 R842Winsufficiently evaluated not reviewed, f=0.008unknown var-GS06985-1100-36-ASM
RAI1 S873SSinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01173-DNA_F06 from PGP sample 64191565
RAI1 E1264Ginsufficiently evaluated not reviewed, f=0.007unknown var-GS18501-1100-36-ASM
RAI1 K1347Einsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
RAI1 P1437Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
RAI1 P1471Linsufficiently evaluated noneunknown
RAI1 P1477Hinsufficiently evaluated none, f=0.008unknown var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
RAI1 Q1562Rinsufficiently evaluated pathogenicunknown

(5 web hits)

RAI1 V1675Linsufficiently evaluated not reviewedunknown
RAI1 S1808Ninsufficiently evaluated pathogenicunknown

(7 web hits)

RAI14 M1Tinsufficiently evaluated not reviewedunknown
RAI14 A36Tinsufficiently evaluated noneunknown
RAI14 S37Ninsufficiently evaluated not reviewedunknown
RAI14 A44Tinsufficiently evaluated none, f=0.090unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS20509-1100-36-ASM
RAI14 S45Ninsufficiently evaluated not reviewed, f=0.004unknown
RAI14 A47Tinsufficiently evaluated noneunknown
RAI14 S48Ninsufficiently evaluated not reviewedunknown
RAI14 G200Rinsufficiently evaluated not reviewedunknown
RAI14 G208Rinsufficiently evaluated not reviewedunknown
RAI14 G211Rinsufficiently evaluated not reviewedunknown
RAI14 V470Linsufficiently evaluated noneunknown

(5 web hits)

RAI14 V491Linsufficiently evaluated noneunknown

(5 web hits)

RAI14 V499Linsufficiently evaluated none, f=0.003unknown

(5 web hits)

RAI14 V502Linsufficiently evaluated noneunknown

(5 web hits)

RAI14 N591Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
RAI14 A841Sinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants (hom)
RAI14 A862Sinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants (hom)
RAI14 A870Sinsufficiently evaluated none, f=0.431unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
var-GS07357-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
RAI14 A873Sinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants (hom)
RAI14 Q909Hinsufficiently evaluated not reviewedunknown
RAI14 Q930Hinsufficiently evaluated not reviewedunknown
RAI14 Q938Hinsufficiently evaluated not reviewed, f=0.001unknown
RAI14 Q941Hinsufficiently evaluated not reviewedunknown
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Total results: 40

Gene search

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