GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
INSR A2Ginsufficiently evaluated not reviewedunknown

The many PGP individuals homozygous for INSR-A2G, and the absence of heterozygotes, suggests an error in the reference assembly.

(14 web hits)

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 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
hu232307 build 36 substitution variants (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
INSR N15Kinsufficiently evaluated pathogenicunknown
INSR V28Ainsufficiently evaluated pathogenicunknown

(1 web hit)

INSR G31Rinsufficiently evaluated pathogenicunknown

(1 web hit)

INSR R86Pinsufficiently evaluated pathogenicunknown

(10 web hits)

INSR I119Minsufficiently evaluated pathogenicunknown

(2 web hits)

INSR K121Xinsufficiently evaluated pathogenicunknown

(1 web hit)

INSR W133Xinsufficiently evaluated pathogenicunknown

(1 web hit)

INSR H209Rinsufficiently evaluated pathogenicunknown
INSR L233Pinsufficiently evaluated pathogenicunknown

(2 web hits)

INSR D261Einsufficiently evaluated not reviewedunknown
INSR G366Rinsufficiently evaluated pathogenicunknown

(1 web hit)

INSR R372Xinsufficiently evaluated pathogenicunknown

(4 web hits)

INSR F382Vinsufficiently evaluated pathogenicunknown

(7 web hits)

INSR W412Sinsufficiently evaluated pathogenicunknown
INSR N431Dinsufficiently evaluated pathogenicunknown

(1 web hit)

INSR K460Einsufficiently evaluated pathogenicunknown

(5 web hits)

INSR N462Sinsufficiently evaluated pathogenicunknown
INSR D546Einsufficiently evaluated not reviewedunknown
INSR E672Xinsufficiently evaluated pathogenicunknown
INSR R735Sinsufficiently evaluated pathogenicunknown
INSR R981Qinsufficiently evaluated pathogenicunknown
INSR V985Minsufficiently evaluated pathogenicunknown

(8 web hits)

INSR R988Xinsufficiently evaluated pathogenicunknown
INSR L991Iinsufficiently evaluated not reviewed, f=0.002unknown var-GS18501-1100-36-ASM
INSR G996Vinsufficiently evaluated pathogenicunknown
INSR R1000Xinsufficiently evaluated pathogenicunknown

(1 web hit)

INSR V1012Minsufficiently evaluated not reviewedunknown hu34D5B9 exome
INSR G1048Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
INSR A1134Tinsufficiently evaluated pathogenicunknown

(5 web hits)

INSR A1135Einsufficiently evaluated pathogenicunknown

(2 web hits)

INSR R1146Winsufficiently evaluated not reviewedunknown
INSR R1152Qinsufficiently evaluated pathogenicunknown
INSR M1153Iinsufficiently evaluated pathogenicunknown
INSR R1158Winsufficiently evaluated not reviewedunknown
INSR R1174Qinsufficiently evaluated pathogenicunknown
INSR W1200Sinsufficiently evaluated pathogenicunknown
INSRR G173Dinsufficiently evaluated not reviewedunknown
INSRR R244Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS19834-1100-36-ASM
INSRR P928Linsufficiently evaluated none, f=0.175unknown var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
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Total results: 40

Gene search

"GENE" or "GENE A123C":

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