GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PRSS1 K23Rinsufficiently evaluated pathogenicunknown

(117 web hits)

PRSS1 N29Iinsufficiently evaluated pathogenic, f=0.168unknown

(426 web hits)

hu34D5B9 exome
PRSS1 N54Sinsufficiently evaluated pathogenicunknown

(13 web hits)

PRSS1 E79Kinsufficiently evaluated pathogenic, f=0.000unknown

(86 web hits)

PRSS1 A121Tinsufficiently evaluated pathogenicunknown

(32 web hits)

PRSS1 R122Cinsufficiently evaluated pathogenic, f=0.000unknown

(196 web hits)

PRSS1 A148Linsufficiently evaluated not reviewedunknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
PRSS1 K170Einsufficiently evaluated not reviewedunknown hu34D5B9 exome
CGI sample GS000005532
CGI sample GS01669-DNA_B05 from PGP sample 86486261
PRSS1 C171Yinsufficiently evaluated not reviewed, f=0.088unknown CGI sample GS000005532
CGI sample GS01669-DNA_B05 from PGP sample 86486261
PRSS1 S181Ninsufficiently evaluated not reviewedunknown hu34D5B9 exome
PRSS1 C206Sinsufficiently evaluated not reviewed, f=0.007unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
PRSS1 G208Ainsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
PRSS1 Q209Einsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS000006909
CGI sample GS00253-DNA_B01_200_37
PRSS12 R55Tinsufficiently evaluated none, f=0.556unknown 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
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01669-DNA_B05 from PGP sample 86486261
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
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
PRSS12 P147Linsufficiently evaluated none, f=0.002unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
PRSS12 G175Dinsufficiently evaluated noneunknown
PRSS12 A606Sinsufficiently evaluated none, f=0.140unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PRSS12 G608Dinsufficiently evaluated not reviewedunknown
PRSS12 I727Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
PRSS12 R797Cinsufficiently evaluated unknown, f=0.005unknown hu728FFF build 36 substitution variants
PRSS12 V818Minsufficiently evaluated not reviewedunknown
PRSS12 R833Qinsufficiently evaluated none, f=0.047unknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_H01_200_37
PRSS16 S104Iinsufficiently evaluated none, f=0.073unknown var-GS19834-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM
PRSS16 ESQIK507Delinsufficiently evaluated not reviewed, f=0.135unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18501-1100-36-ASM
CGI sample GS000006909
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM
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Total results: 24

Gene search

"GENE" or "GENE A123C":

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