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
Page: 1 2 Total results: 14

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