GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MYH14 S7Xinsufficiently evaluated pathogenicunknown

(6 web hits)

MYH14 P31Tinsufficiently evaluated not reviewed, f=0.109unknown 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
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
MYH14 S120Linsufficiently evaluated pathogenicunknown

(11 web hits)

MYH14 M161Iinsufficiently evaluated not reviewed, f=0.015unknown hu34D5B9 exome
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
MYH14 I268Vinsufficiently evaluated noneunknown
MYH14 I276Vinsufficiently evaluated none, f=0.004unknown var-GS19026-1100-36-ASM
MYH14 P334Ainsufficiently evaluated not reviewedunknown
MYH14 S337Cinsufficiently evaluated not reviewedunknown
MYH14 G341Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
MYH14 P342Ainsufficiently evaluated not reviewed, f=0.014unknown var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
MYH14 S345Cinsufficiently evaluated not reviewed, f=0.003unknown

(1 web hit)

MYH14 G376Cinsufficiently evaluated pathogenicunknown

(6 web hits)

MYH14 G384Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
MYH14 A479Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19700-1100-36-ASM
MYH14 D541Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
MYH14 G586Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
MYH14 R726Sinsufficiently evaluated pathogenicunknown

(15 web hits)

MYH14 K865Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
MYH14 R867Hinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
MYH14 T934Minsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
MYH14 L976Finsufficiently evaluated pathogenicunknown

(7 web hits)

MYH14 D1055Einsufficiently evaluated noneunknown
MYH14 D1063Einsufficiently evaluated noneunknown
MYH14 D1096Einsufficiently evaluated noneunknown
MYH14 A1209Einsufficiently evaluated not reviewedunknown
MYH14 A1217Einsufficiently evaluated not reviewed, f=0.016unknown hu232307 build 36 substitution variants
MYH14 A1250Einsufficiently evaluated not reviewed, f=0.022unknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_C01_200_37
MYH14 Q1269Hinsufficiently evaluated not reviewedunknown CGI sample GS000006909
MYH14 S1365Ninsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
MYH14 R1386Winsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
MYH14 V1432Minsufficiently evaluated not reviewedunknown
MYH14 V1440Minsufficiently evaluated not reviewedunknown
MYH14 V1473Minsufficiently evaluated not reviewed, f=0.001unknown
MYH14 V1548Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS18502-1100-36-ASM
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Total results: 34

Gene search

"GENE" or "GENE A123C":

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