GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
POMT1 M1Linsufficiently evaluated noneunknown
POMT1 M64Linsufficiently evaluated noneunknown
POMT1 G65Rinsufficiently evaluated pathogenicunknown

(3 web hits)

POMT1 G76Rinsufficiently evaluated pathogenicunknown

(6 web hits)

POMT1 M118Linsufficiently evaluated noneunknown
POMT1 V188Iinsufficiently evaluated noneunknown
POMT1 A200Pinsufficiently evaluated pathogenicunknown

(16 web hits)

POMT1 Q251Rinsufficiently evaluated noneunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)
POMT1 Q251Xinsufficiently evaluated noneunknown

(1 web hit)

POMT1 V251Iinsufficiently evaluated noneunknown
POMT1 D294Einsufficiently evaluated noneunknown
POMT1 Q303Xinsufficiently evaluated pathogenicunknown

(6 web hits)

POMT1 V305Iinsufficiently evaluated none, f=0.036unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS00253-DNA_F01_200_37
var-GS18947-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01175-DNA_D03 from PGP sample 27486199
POMT1 V327Iinsufficiently evaluated noneunknown

(2 web hits)

POMT1 D357Einsufficiently evaluated noneunknown
POMT1 D411Einsufficiently evaluated none, f=0.038unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_G02 from PGP sample 67180598
hu232307 build 36 substitution variants
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
POMT1 D433Einsufficiently evaluated noneunknown

(1 web hit)

POMT1 R500Kinsufficiently evaluated not reviewed, f=0.001unknown var-GS10851-1100-36-ASM
POMT1 A502Vinsufficiently evaluated not reviewedunknown
POMT1 R514Xinsufficiently evaluated pathogenicunknown

(8 web hits)

POMT1 R541Xinsufficiently evaluated pathogenicunknown

(1 web hit)

POMT1 A565Vinsufficiently evaluated not reviewedunknown
POMT1 W582Cinsufficiently evaluated pathogenicunknown

(2 web hits)

POMT1 Q590Hinsufficiently evaluated pathogenicunknown

(1 web hit)

POMT1 R596Cinsufficiently evaluated not reviewedunknown
POMT1 A619Vinsufficiently evaluated not reviewed, f=0.017unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19700-1100-36-ASM
var-GS19026-1100-36-ASM
POMT1 A641Vinsufficiently evaluated not reviewedunknown

(1 web hit)

POMT1 R659Cinsufficiently evaluated not reviewedunknown
POMT1 A669Tinsufficiently evaluated pathogenicunknown

(1 web hit)

POMT1 R713Cinsufficiently evaluated not reviewed, f=0.010unknown CGI sample GS00253-DNA_C01_200_37
POMT1 R735Cinsufficiently evaluated not reviewedunknown

(1 web hit)

Page: 1 2 3 4
Total results: 31

Gene search

"GENE" or "GENE A123C":

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