GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ESPN R113Cinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
ESPN A133Vinsufficiently evaluated none, f=0.000unknown
ESPN L156Pinsufficiently evaluated noneunknown

(1 web hit)

ESPN Q236Einsufficiently evaluated none, f=0.029unknown
ESPN P350Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS19239-1100-36-ASM
ESPN S400Cinsufficiently evaluated noneunknown

(1 web hit)

ESPN A402Tinsufficiently evaluated not reviewed, f=0.014unknown var-GS18502-1100-36-ASM
ESPN R422Qinsufficiently evaluated none, f=0.011unknown var-GS19129-1100-36-ASM
ESPN R422Winsufficiently evaluated not reviewed, f=0.003unknown hu34D5B9 exome
var-GS21767-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
ESPN T429Iinsufficiently evaluated not reviewed, f=0.005unknown var-GS21767-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
ESPN R546Cinsufficiently evaluated none, f=0.119unknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
ESPN S696Linsufficiently evaluated not reviewedunknown
ESPN S719Rinsufficiently evaluated pathogenicunknown
ESPN D744Ninsufficiently evaluated pathogenic, f=0.000unknown
ESPN R774Qinsufficiently evaluated pathogenicunknown
ESPN R791Winsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
ESPNL R66Winsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS18504-1100-36-ASM
ESPNL R91Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
ESPNL S129Linsufficiently evaluated not reviewed, f=0.000unknown var-GS06994-1100-36-ASM
ESPNL V146Iinsufficiently evaluated none, f=0.008unknown var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
ESPNL R167Qinsufficiently evaluated none, f=0.025unknown hu3215A7 build 36 substitution variants
var-GS19701-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
ESPNL Y176Sinsufficiently evaluated none, f=0.003unknown
ESPNL V221Iinsufficiently evaluated not reviewed, f=0.010unknown CGI sample GS00253-DNA_G01_200_37
ESPNL G239Rinsufficiently evaluated not reviewed, f=0.006unknown var-GS19704-1100-36-ASM
ESPNL R351Cinsufficiently evaluated none, f=0.009unknown var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
ESPNL T480Minsufficiently evaluated not reviewed, f=0.000unknown
ESPNL A483Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
ESPNL Q492Einsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
ESPNL I568Vinsufficiently evaluated none, f=0.387unknown CGI sample GS00253-DNA_E01_200_37
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 GS01175-DNA_H01 from PGP sample 94797469
var-GS19700-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
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
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-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
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ESPNL A574Sinsufficiently evaluated none, f=0.383unknown CGI sample GS00253-DNA_E01_200_37
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 GS01175-DNA_H01 from PGP sample 94797469
var-GS19700-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
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
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-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
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ESPNL V610Minsufficiently evaluated none, f=0.134unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
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
CGI sample GS00253-DNA_A01_200_37 (hom)
var-GS19239-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
ESPNL R653Winsufficiently evaluated not reviewed, f=0.012unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS10851-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
ESPNL A711Pinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
ESPNL V761Ainsufficiently evaluated none, f=0.853unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
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_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ESPNL Q829Rinsufficiently evaluated none, f=0.434unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
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
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19735-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS10851-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
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
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
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 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ESPNL A872Vinsufficiently evaluated none, f=0.068unknown var-GS18504-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
ESPNL K876Einsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
ESPNL V904Minsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
ESPNL A954Tinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
ESPNL A955Tinsufficiently evaluated none, f=0.147unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu34D5B9 exome (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
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-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS20502-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
Page: 1 2 3 4
Total results: 40

Gene search

"GENE" or "GENE A123C":

Log in