GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC25A4 L98Pinsufficiently evaluated pathogenicunknown

(4 web hits)

SLC25A4 D104Ginsufficiently evaluated pathogenicunknown

(17 web hits)

SLC25A4 A114Pinsufficiently evaluated pathogenicunknown

(7 web hits)

SLC25A4 A123Dinsufficiently evaluated pathogenicunknown

(3 web hits)

SLC25A4 A150Pinsufficiently evaluated noneunknown
SLC25A4 V289Minsufficiently evaluated pathogenicunknown

(5 web hits)

SLC25A40 M212Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
SLC25A40 M277Vinsufficiently evaluated none, f=0.001unknown var-GS19129-1100-36-ASM
SLC25A41 L26Vinsufficiently evaluated not reviewed, f=0.021unknown var-GS19670-1100-36-ASM
SLC25A41 A29Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS19020-1100-36-ASM
SLC25A41 G144Sinsufficiently evaluated none, f=0.062unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
SLC25A41 N152Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS10851-1100-36-ASM
SLC25A41 L214Winsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
SLC25A41 T219Kinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_A04 from PGP sample 13272228
SLC25A41 R235Qinsufficiently evaluated not reviewed, f=0.002unknown var-GS18501-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
SLC25A41 T258Sinsufficiently evaluated not reviewed, f=0.006unknown var-GS19238-1100-36-ASM
SLC25A42 P9Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
SLC25A42 R28Hinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_A02_200_37
SLC25A42 T304Iinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_F01_200_37
SLC25A43 P334Linsufficiently evaluated none, f=0.585unknown 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
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
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 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (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 (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
SLC25A45 V40Iinsufficiently evaluated none, f=0.003unknown var-GS18504-1100-36-ASM
var-GS19129-1100-36-ASM
SLC25A45 M58Tinsufficiently evaluated noneunknown
SLC25A45 M100Tinsufficiently evaluated none, f=0.035unknown var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
var-GS19129-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
SLC25A45 M182Vinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants (hom)
SLC25A45 M224Vinsufficiently evaluated none, f=0.974unknown 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 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
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)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (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
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-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 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
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 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
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 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
SLC25A45 R243Cinsufficiently evaluated noneunknown
SLC25A45 R251Qinsufficiently evaluated not reviewed, f=0.013unknown var-GS18501-1100-36-ASM
SLC25A45 R285Cinsufficiently evaluated none, f=0.025unknown CGI sample GS00253-DNA_E01_200_37
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
SLC25A46 E79Kinsufficiently evaluated none, f=0.001unknown
SLC25A46 S93Ninsufficiently evaluated none, f=0.001unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
SLC25A46 L116Sinsufficiently evaluated not reviewedunknown
SLC25A46 F183Linsufficiently evaluated not reviewedunknown hu232307 build 36 substitution variants
SLC25A46 V211Minsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
SLC25A46 I248Linsufficiently evaluated not reviewed, f=0.002unknown var-GS19703-1100-36-ASM
var-GS19704-1100-36-ASM
SLC25A46 K256Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
SLC25A46 E379Dinsufficiently evaluated not reviewed, f=0.037unknown var-GS19703-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
SLC25A47 S57Winsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
SLC25A47 V108Iinsufficiently evaluated not reviewed, f=0.028unknown var-GS19703-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
SLC25A47 QT124RPinsufficiently evaluated not reviewedunknown CGI sample GS000006909
SLC25A47 R135Linsufficiently evaluated not reviewed, f=0.352unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
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 (hom)
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
SLC25A47 A210Tinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_C01_200_37
SLC25A47 T308Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
SLC25A48 T102Minsufficiently evaluated not reviewed, f=0.002unknown var-GS18508-1100-36-ASM
SLC25A48 L155Finsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
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Total results: 44

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