GET-Evidence: Search
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Variant
Impact
Inheritance pattern
Summary
Genomes
SALL1 M1V
insufficiently evaluated none
unknown
SALL1 V30L
insufficiently evaluated not reviewed
unknown
SALL1 S62G
insufficiently evaluated none
unknown
(1 web hit)
SALL1 M98V
insufficiently evaluated none, f=0.005
unknown
(4 web hits)
var-GS19129-1100-36-ASM
SALL1 V127L
insufficiently evaluated not reviewed, f=0.003
unknown
CGI sample GS00253-DNA_D01_200_37
SALL1 S143T
insufficiently evaluated not reviewed
unknown
CGI sample GS00253-DNA_G01_200_37
SALL1 S159G
insufficiently evaluated none, f=0.053
unknown
(10 web hits)
SALL1 R276X
insufficiently evaluated pathogenic
unknown
(84 web hits)
SALL1 Q323X
insufficiently evaluated pathogenic
unknown
(1 web hit)
SALL1 L419X
insufficiently evaluated pathogenic
unknown
(6 web hits)
SALL1 V1178I
insufficiently evaluated not reviewed
unknown
hu728FFF build 36 substitution variants
(hom)
SALL1 N1194S
insufficiently evaluated not reviewed
unknown
SALL1 V1275I
insufficiently evaluated not reviewed, f=0.988
unknown
(5 web hits)
CGI sample GS00253-DNA_E01_200_37
(hom)
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)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
(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 GS000006909
(hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
(hom)
CGI sample GS000005532
(hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
(hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
(hom)
CGI sample GS00253-DNA_G01_200_37
(hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
(hom)
CGI sample GS00253-DNA_A01_200_37
(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 GS00253-DNA_B02_200_37
(hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
(hom)
CGI sample GS00253-DNA_B01_200_37
(hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
(hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
(hom)
CGI sample GS00253-DNA_F01_200_37
(hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
(hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
(hom)
CGI sample GS00253-DNA_D01_200_37
(hom)
CGI sample GS00253-DNA_C01_200_37
(hom)
CGI sample GS00253-DNA_A02_200_37
(hom)
CGI sample GS00253-DNA_H01_200_37
(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_B02 from PGP sample 94378523
(hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
(hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
(hom)
hu728FFF build 36 substitution variants
(hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
(hom)
SALL1 N1291S
insufficiently evaluated not reviewed, f=0.012
unknown
CGI sample GS00253-DNA_E01_200_37
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Total results: 14
Gene search
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