GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TRPS1 N122Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
TRPS1 C338Xinsufficiently evaluated pathogenicunknown

(8 web hits)

TRPS1 R611Xinsufficiently evaluated pathogenicunknown

(8 web hits)

TRPS1 T795Ninsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B02_200_37
TRPS1 R814Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
TRPS1 P829Ainsufficiently evaluated noneunknown
TRPS1 R840Xinsufficiently evaluated pathogenicunknown

(8 web hits)

TRPS1 T901Pinsufficiently evaluated pathogenicunknown

(5 web hits)

TRPS1 R908Qinsufficiently evaluated pathogenicunknown

(5 web hits)

TRPS1 A919Vinsufficiently evaluated pathogenicunknown

(7 web hits)

TRPS1 R952Cinsufficiently evaluated pathogenicunknown

(12 web hits)

TRPS1 R952Hinsufficiently evaluated pathogenicunknown

(5 web hits)

TRPS1 Q979Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
TRPS1 V1068Iinsufficiently evaluated not reviewed, f=0.000unknown var-GS18526-1100-36-ASM
TRPS1 Y1092Xinsufficiently evaluated pathogenicunknown

(1 web hit)

TRPS1 NG1191TCinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
TRPS1 I1235Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
TRPS1 Q1257Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
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Total results: 18

Gene search

"GENE" or "GENE A123C":

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