GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PSAP M1Linsufficiently evaluated pathogenicunknown

(19 web hits)

PSAP L6Finsufficiently evaluated not reviewed, f=0.002unknown var-GS18502-1100-36-ASM
PSAP N215Hinsufficiently evaluated pathogenicunknown

(23 web hits)

PSAP T217Iinsufficiently evaluated pathogenicunknown

(8 web hits)

PSAP C241Sinsufficiently evaluated pathogenicunknown

(5 web hits)

PSAP V260Linsufficiently evaluated not reviewedunknown
PSAP H305Rinsufficiently evaluated not reviewedunknown
PSAP H307Rinsufficiently evaluated not reviewedunknown
PSAP H308Rinsufficiently evaluated not reviewedunknown

(1 web hit)

PSAP L349Pinsufficiently evaluated pathogenicunknown

(8 web hits)

PSAP V361VVinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_D01 from PGP sample 31286272
PSAP C382Ginsufficiently evaluated pathogenicunknown

(1 web hit)

PSAP C385Finsufficiently evaluated pathogenicunknown

(2 web hits)

PSAP Q430Xinsufficiently evaluated pathogenicunknown

(8 web hits)

PSAPL1 A17Pinsufficiently evaluated noneunknown
PSAPL1 A40Sinsufficiently evaluated not reviewed, f=0.203unknown var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
PSAPL1 A41Sinsufficiently evaluated not reviewed, f=0.118unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
PSAPL1 G43Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
PSAPL1 A58Tinsufficiently evaluated not reviewed, f=0.016unknown var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
PSAPL1 P98Sinsufficiently evaluated not reviewed, f=0.117unknown var-GS19025-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
PSAPL1 P99Sinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
PSAPL1 R122Hinsufficiently evaluated not reviewed, f=0.103unknown hu3215A7 build 36 substitution variants
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS20502-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19669-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
PSAPL1 R123Hinsufficiently evaluated not reviewed, f=0.135unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000005532
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B07 from PGP sample 61499538
PSAPL1 V123Minsufficiently evaluated unknownunknown hu728FFF build 36 substitution variants
PSAPL1 H152Rinsufficiently evaluated not reviewedunknown
PSAPL1 R178Hinsufficiently evaluated unknownunknown hu728FFF build 36 substitution variants (hom)
PSAPL1 L203Sinsufficiently evaluated not reviewed, f=0.016unknown var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
PSAPL1 W204Rinsufficiently evaluated not reviewedunknown
PSAPL1 D236Ninsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
PSAPL1 G251Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS20509-1100-36-ASM
PSAPL1 A267Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
PSAPL1 A268Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
PSAPL1 T270Minsufficiently evaluated noneunknown
PSAPL1 V295Minsufficiently evaluated not reviewed, f=0.141unknown hu3215A7 build 36 substitution variants
var-GS18501-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS20502-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19669-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
PSAPL1 V296Minsufficiently evaluated not reviewed, f=0.166unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000005532
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B07 from PGP sample 61499538
PSAPL1 T299Minsufficiently evaluated noneunknown
PSAPL1 A373Einsufficiently evaluated not reviewed, f=0.070unknown hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS18956-1100-36-ASM
PSAPL1 A374Einsufficiently evaluated not reviewed, f=0.097unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000005532
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_C01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
PSAPL1 Q374Kinsufficiently evaluated not reviewedunknown
PSAPL1 T388Minsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PSAPL1 I434Tinsufficiently evaluated noneunknown
PSAPL1 Q436Xinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
PSAPL1 V442Iinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
PSAPL1 P459Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
PSAPL1 G470Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
PSAPL1 A471Vinsufficiently evaluated noneunknown
PSAPL1 C476Finsufficiently evaluated noneunknown
PSAPL1 A516Tinsufficiently evaluated not reviewed, f=0.109unknown hu3215A7 build 36 substitution variants
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS20502-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19669-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
PSAPL1 A517Tinsufficiently evaluated not reviewed, f=0.129unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000005532
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B07 from PGP sample 61499538
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Total results: 49

Gene search

"GENE" or "GENE A123C":

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