GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC4A1 D38Ainsufficiently evaluated none, f=0.027unknown

(17 web hits)

var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
SLC4A1 E40Klikely pathogenic, f=0.012recessive

Rare and reported to cause hemolytic anemia in a recessive manner, although insufficient data is published to establish statistical significance. Polyphen 2 predicts a benign effect.

(6 web hits)

CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
SLC4A1 K56Einsufficiently evaluated unknown, f=0.050unknown

(13 web hits)

var-GS19025-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18947-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
SLC4A1 E72Dinsufficiently evaluated not reviewed, f=0.000unknown var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
SLC4A1 E90Kinsufficiently evaluated pathogenicunknown

(16 web hits)

SLC4A1 G130Rinsufficiently evaluated pathogenic, f=0.000unknown

(5 web hits)

SLC4A1 R150Xinsufficiently evaluated pathogenicunknown

(3 web hits)

SLC4A1 R180Hinsufficiently evaluated not reviewed, f=0.005unknown CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
SLC4A1 P327Rinsufficiently evaluated pathogenic, f=0.001unknown

(6 web hits)

SLC4A1 Q330Xinsufficiently evaluated pathogenicunknown

(2 web hits)

SLC4A1 E480Kinsufficiently evaluated pathogenicunknown

(2 web hits)

SLC4A1 V488Minsufficiently evaluated pathogenicunknown

(21 web hits)

SLC4A1 E508Kinsufficiently evaluated not reviewed, f=0.001unknown var-GS18505-1100-36-ASM
SLC4A1 V557Minsufficiently evaluated pathogenicunknown

(1 web hit)

SLC4A1 R589Cinsufficiently evaluated pathogenicunknown

(39 web hits)

SLC4A1 R589Hinsufficiently evaluated pathogenicunknown

(105 web hits)

SLC4A1 R589Sinsufficiently evaluated pathogenicunknown

(29 web hits)

SLC4A1 R602Pinsufficiently evaluated pathogenicunknown

(1 web hit)

SLC4A1 S613Finsufficiently evaluated pathogenicunknown

(52 web hits)

SLC4A1 R646Qinsufficiently evaluated pathogenic, f=0.000unknown

(1 web hit)

SLC4A1 R646Winsufficiently evaluated pathogenicunknown

(1 web hit)

SLC4A1 E658Kinsufficiently evaluated pathogenic, f=0.000unknown

(1 web hit)

SLC4A1 L677Pinsufficiently evaluated not reviewedunknown CGI sample GS000006909
SLC4A1 G701Dinsufficiently evaluated pathogenicunknown

(128 web hits)

SLC4A1 R760Qinsufficiently evaluated pathogenicunknown

(18 web hits)

SLC4A1 G771Dinsufficiently evaluated pathogenicunknown

(2 web hits)

SLC4A1 S773Pinsufficiently evaluated pathogenicunknown

(55 web hits)

SLC4A1 T837Ainsufficiently evaluated pathogenicunknown
SLC4A1 P854Linsufficiently evaluated pathogenic, f=0.001unknown

(5 web hits)

var-GS19735-1100-36-ASM
SLC4A1 A858Dinsufficiently evaluated pathogenicunknown

(54 web hits)

SLC4A1 V862Iinsufficiently evaluated not reviewed, f=0.033unknown

(1 web hit)

var-GS19025-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18508-1100-36-ASM
SLC4A1 P868Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
SLC4A1 R870Winsufficiently evaluated pathogenicunknown

(6 web hits)

SLC4A1 P878Linsufficiently evaluated pathogenicunknown
SLC4A10 L676Finsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS000006909
SLC4A10 Q1026Einsufficiently evaluated not reviewed, f=0.001unknown var-GS21767-1100-36-ASM
SLC4A11 P26Rinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
SLC4A11 R50Ginsufficiently evaluated not reviewedunknown
SLC4A11 N150Sinsufficiently evaluated not reviewed, f=0.014unknown var-GS19834-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19026-1100-36-ASM
SLC4A11 N166Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
SLC4A11 S213Pinsufficiently evaluated pathogenic, f=0.000unknown
SLC4A11 R347Qinsufficiently evaluated not reviewed, f=0.002unknown
SLC4A11 G464Dinsufficiently evaluated pathogenicunknown
SLC4A11 R488Kinsufficiently evaluated pathogenicunknown
SLC4A11 S489Linsufficiently evaluated pathogenic, f=0.000unknown
SLC4A11 R605Xinsufficiently evaluated pathogenicunknown
SLC4A11 G742Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
SLC4A11 R755Qinsufficiently evaluated pathogenicunknown
SLC4A11 L843Pinsufficiently evaluated pathogenicunknown
SLC4A11 M856Vinsufficiently evaluated pathogenicunknown
SLC4A11 R869Cinsufficiently evaluated pathogenicunknown
SLC4A11 R869Hinsufficiently evaluated pathogenicunknown
SLC4A1AP P139Tinsufficiently evaluated none, f=0.474unknown 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
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18504-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532 (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
var-GS21767-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
SLC4A1AP R181Cinsufficiently evaluated not reviewed, f=0.010unknown CGI sample GS00253-DNA_C01_200_37
var-GS20509-1100-36-ASM
SLC4A1AP Q214Rinsufficiently evaluated not reviewedunknown
SLC4A1AP K305Einsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
SLC4A1AP Q359Hinsufficiently evaluated none, f=0.000unknown var-GS18555-1100-36-ASM
SLC4A1AP I492Linsufficiently evaluated noneunknown
SLC4A1AP K642Rinsufficiently evaluated not reviewedunknown
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Total results: 59

Gene search

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