GET-Evidence: Search

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VariantImpactInheritance patternSummaryGenomes
HCN4 G36Einsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
hu34D5B9 exome
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01173-DNA_A07 from PGP sample 96240009
HCN4 AG250ERinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01173-DNA_B02 from PGP sample 94378523
HCN4 G480Rinsufficiently evaluated pathogenicunknown

(22 web hits)

HCN4 D553Ninsufficiently evaluated pathogenicunknown

(160 web hits)

HCN4 M593Kinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
HCN4 R624Winsufficiently evaluated not reviewedunknown hu232307 build 36 substitution variants
HCN4 S672Rinsufficiently evaluated pathogenicunknown

(39 web hits)

HCN4 V849Ainsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_E01_200_37
HCN4 P883Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01173-DNA_B02 from PGP sample 94378523
HCN4 P1061Rinsufficiently evaluated not reviewed, f=0.010unknown var-GS19704-1100-36-ASM
HCN4 M1113Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
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Total results: 11

Gene search

"GENE" or "GENE A123C":

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