GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SFTPC E66Kinsufficiently evaluated pathogenicunknown

(10 web hits)

SFTPC I73Tinsufficiently evaluated pathogenicunknown

(76 web hits)

SFTPC A116Dinsufficiently evaluated pathogenicunknown
SFTPC Y122Ninsufficiently evaluated noneunknown
SFTPC Y122Sinsufficiently evaluated noneunknown
SFTPC I123Vinsufficiently evaluated noneunknown
SFTPC T138Ninsufficiently evaluated none, f=0.209unknown

(10 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS18558-1100-36-ASM
CGI sample GS000006909
hu232307 build 36 substitution variants
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
SFTPC R167Qinsufficiently evaluated pathogenic, f=0.004unknown

(12 web hits)

SFTPC A172Ginsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_C01_200_37
SFTPC P173Linsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_C01_200_37
SFTPC S180Ninsufficiently evaluated not reviewedunknown
SFTPC L181Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
SFTPC S186Ninsufficiently evaluated none, f=0.261unknown

(10 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS000006909
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
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 GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
SFTPC L188Qinsufficiently evaluated pathogenicunknown

(35 web hits)

SFTPC L194Pinsufficiently evaluated pathogenicunknown
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Total results: 15

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