GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SYNE1 D77Ninsufficiently evaluated noneunknown
SYNE1 R85Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
SYNE1 V130Linsufficiently evaluated not reviewedunknown
SYNE1 S180Pinsufficiently evaluated not reviewedunknown
SYNE1 I220Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS20502-1100-36-ASM
SYNE1 R257Hinsufficiently evaluated pathogenicunknown

(4 web hits)

SYNE1 R304Qinsufficiently evaluated not reviewedunknown
SYNE1 I329Minsufficiently evaluated noneunknown
SYNE1 A330Sinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
SYNE1 A337Tinsufficiently evaluated not reviewedunknown
SYNE1 A344Tinsufficiently evaluated not reviewedunknown
SYNE1 A457Tinsufficiently evaluated not reviewedunknown
SYNE1 G485Ainsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
SYNE1 V572Linsufficiently evaluated pathogenicunknown

(7 web hits)

SYNE1 S613Finsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
SYNE1 E646Kinsufficiently evaluated pathogenicunknown

(6 web hits)

SYNE1 Q655Rinsufficiently evaluated none, f=0.006unknown
SYNE1 Q662Rinsufficiently evaluated noneunknown
SYNE1 C716Rinsufficiently evaluated not reviewedunknown
SYNE1 C723Rinsufficiently evaluated not reviewedunknown
SYNE1 E726Ginsufficiently evaluated none, f=0.003unknown

(3 web hits)

SYNE1 L728Qinsufficiently evaluated noneunknown
SYNE1 E733Ginsufficiently evaluated noneunknown
SYNE1 M740Iinsufficiently evaluated not reviewed, f=0.005unknown var-GS18502-1100-36-ASM
SYNE1 Q756Rinsufficiently evaluated not reviewedunknown
SYNE1 E781Dinsufficiently evaluated not reviewedunknown
SYNE1 R843Cinsufficiently evaluated none, f=0.021unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS00253-DNA_A01_200_37
var-GS19648-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19669-1100-36-ASM
SYNE1 R850Cinsufficiently evaluated noneunknown
SYNE1 T872Iinsufficiently evaluated noneunknown
SYNE1 L885Vinsufficiently evaluated none, f=0.063unknown var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18505-1100-36-ASM
SYNE1 L892Vinsufficiently evaluated noneunknown
SYNE1 T895Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
SYNE1 R920Qinsufficiently evaluated noneunknown
SYNE1 L926Minsufficiently evaluated noneunknown
SYNE1 A937Sinsufficiently evaluated not reviewedunknown
SYNE1 A944Sinsufficiently evaluated not reviewedunknown
SYNE1 V1035Ainsufficiently evaluated not reviewed, f=0.534unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
SYNE1 V1042Ainsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
SYNE1 H1187Yinsufficiently evaluated not reviewedunknown
SYNE1 A1297Vinsufficiently evaluated not reviewed, f=0.007unknown
SYNE1 A1304Vinsufficiently evaluated not reviewedunknown
SYNE1 R1388Winsufficiently evaluated none, f=0.004unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
SYNE1 R1395Winsufficiently evaluated noneunknown
SYNE1 T1586Kinsufficiently evaluated none, f=0.001unknown var-GS18942-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
SYNE1 T1593Kinsufficiently evaluated noneunknown
SYNE1 R1659Kinsufficiently evaluated not reviewedunknown
SYNE1 R1666Kinsufficiently evaluated not reviewedunknown
SYNE1 Q1709Kinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_B02_200_37
SYNE1 Q1716Kinsufficiently evaluated not reviewedunknown
SYNE1 D1730Einsufficiently evaluated none, f=0.049unknown var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
SYNE1 D1737Einsufficiently evaluated noneunknown
SYNE1 F1826Vinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)
SYNE1 L1913Shiftinsufficiently evaluated not reviewedunknown hu34D5B9 exome
SYNE1 N1915Shiftinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
SYNE1 H1936Rinsufficiently evaluated not reviewed, f=0.001unknown
SYNE1 H1943Rinsufficiently evaluated not reviewedunknown
SYNE1 I2045Minsufficiently evaluated not reviewed, f=0.004unknown var-GS19834-1100-36-ASM
SYNE1 L2045Pinsufficiently evaluated not reviewedunknown
SYNE1 D2057Ginsufficiently evaluated not reviewedunknown
SYNE1 D2064Ginsufficiently evaluated not reviewedunknown
SYNE1 K2157Rinsufficiently evaluated none, f=0.026unknown var-GS21767-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18517-1100-36-ASM
SYNE1 K2164Rinsufficiently evaluated noneunknown
SYNE1 E2235Dinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01175-DNA_B04 from PGP sample 88590671
SYNE1 G2297Rinsufficiently evaluated not reviewed, f=0.000unknown var-GS18940-1100-36-ASM
SYNE1 H2371Ninsufficiently evaluated not reviewedunknown
SYNE1 H2378Ninsufficiently evaluated not reviewedunknown
SYNE1 G2384Dinsufficiently evaluated not reviewedunknown
SYNE1 G2391Dinsufficiently evaluated not reviewedunknown
SYNE1 D2438Yinsufficiently evaluated not reviewed, f=0.008unknown var-GS20502-1100-36-ASM
SYNE1 D2439Ninsufficiently evaluated noneunknown
SYNE1 A2475Vinsufficiently evaluated not reviewedunknown
SYNE1 A2482Vinsufficiently evaluated not reviewedunknown
SYNE1 S2542Pinsufficiently evaluated not reviewedunknown
SYNE1 H2558Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
SYNE1 K2559Einsufficiently evaluated not reviewedunknown hu34D5B9 exome
SYNE1 T2659Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01175-DNA_D03 from PGP sample 27486199
SYNE1 I2691Minsufficiently evaluated noneunknown
SYNE1 A2692Sinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
SYNE1 I2779Sinsufficiently evaluated not reviewed, f=0.020unknown var-GS18501-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
SYNE1 A2795Vinsufficiently evaluated none, f=0.195unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
SYNE1 A2802Vinsufficiently evaluated noneunknown
SYNE1 G2847Ainsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
SYNE1 T2853Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
SYNE1 R2906Xinsufficiently evaluated pathogenicunknown

(3 web hits)

SYNE1 K3039Ninsufficiently evaluated not reviewed, f=0.000unknown var-GS18940-1100-36-ASM
SYNE1 T3211Iinsufficiently evaluated noneunknown
SYNE1 S3255Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
SYNE1 R3259Qinsufficiently evaluated noneunknown
SYNE1 L3265Minsufficiently evaluated noneunknown
SYNE1 V3341Ainsufficiently evaluated not reviewed, f=0.010unknown var-GS19020-1100-36-ASM
SYNE1 S3346Yinsufficiently evaluated not reviewed, f=0.005unknown CGI sample GS00253-DNA_C01_200_37
SYNE1 S3353Yinsufficiently evaluated not reviewedunknown
SYNE1 L3388Finsufficiently evaluated not reviewed, f=0.008unknown var-GS10851-1100-36-ASM
SYNE1 G3403Sinsufficiently evaluated not reviewed, f=0.016unknown var-GS18501-1100-36-ASM
SYNE1 Q3512Rinsufficiently evaluated not reviewedunknown
SYNE1 Q3519Rinsufficiently evaluated not reviewedunknown
SYNE1 R3533Hinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
SYNE1 Q3609Hinsufficiently evaluated not reviewed, f=0.011unknown var-GS18505-1100-36-ASM
SYNE1 K3811Rinsufficiently evaluated noneunknown
SYNE1 K3826Rinsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
SYNE1 T3829Ainsufficiently evaluated not reviewed, f=0.003unknown var-GS19239-1100-36-ASM
SYNE1 M3847Iinsufficiently evaluated not reviewed, f=0.004unknown var-GS18508-1100-36-ASM
SYNE1 K3859Tinsufficiently evaluated noneunknown
SYNE1 K3874Tinsufficiently evaluated none, f=0.017unknown var-GS18942-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18947-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18956-1100-36-ASM
SYNE1 C3950Rinsufficiently evaluated noneunknown
SYNE1 S3954Tinsufficiently evaluated not reviewed, f=0.042unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
SYNE1 E3989Dinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
SYNE1 C4021Rinsufficiently evaluated none, f=0.012unknown var-GS19703-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
SYNE1 K4050Ninsufficiently evaluated noneunknown
SYNE1 K4050Rinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
SYNE1 P4057Linsufficiently evaluated not reviewed, f=0.003unknown var-GS18501-1100-36-ASM
SYNE1 E4060Dinsufficiently evaluated not reviewed, f=0.566unknown 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)
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
SYNE1 K4121Ninsufficiently evaluated noneunknown
SYNE1 K4121Rinsufficiently evaluated not reviewed, f=0.784unknown 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
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (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)
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
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
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
SYNE1 K4121Sinsufficiently evaluated not reviewed, f=0.095unknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
SYNE1 L4128Shiftinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_A02_200_37
SYNE1 E4132Kinsufficiently evaluated not reviewedunknown
SYNE1 D4148Hinsufficiently evaluated not reviewed, f=0.025unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS06985-1100-36-ASM
SYNE1 E4203Kinsufficiently evaluated not reviewed, f=0.028unknown var-GS19701-1100-36-ASM
SYNE1 L4333Vinsufficiently evaluated not reviewedunknown
SYNE1 L4404Vinsufficiently evaluated not reviewedunknown
SYNE1 V4453Ainsufficiently evaluated not reviewedunknown
SYNE1 V4475Iinsufficiently evaluated noneunknown
SYNE1 V4524Ainsufficiently evaluated not reviewedunknown
SYNE1 S4525Tinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
SYNE1 V4546Iinsufficiently evaluated none, f=0.000unknown var-GS18956-1100-36-ASM
SYNE1 N4590Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
SYNE1 S4596Tinsufficiently evaluated not reviewed, f=0.793unknown 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
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (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)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
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
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
SYNE1 E4711Ginsufficiently evaluated not reviewedunknown
SYNE1 E4782Ginsufficiently evaluated not reviewedunknown
SYNE1 I4920Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
SYNE1 L4944Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
SYNE1 L4991Finsufficiently evaluated not reviewedunknown
SYNE1 L5015Minsufficiently evaluated not reviewed, f=0.808unknown 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
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (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)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
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
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
SYNE1 D5034Ninsufficiently evaluated not reviewedunknown
SYNE1 L5062Finsufficiently evaluated not reviewedunknown
SYNE1 D5105Ninsufficiently evaluated not reviewed, f=0.007unknown hu3215A7 build 36 substitution variants
SYNE1 T5132Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
SYNE1 T5355Minsufficiently evaluated noneunknown
SYNE1 M5377Linsufficiently evaluated not reviewed, f=0.007unknown var-GS19700-1100-36-ASM
SYNE1 V5385Finsufficiently evaluated not reviewedunknown
SYNE1 T5426Minsufficiently evaluated none, f=0.019unknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18956-1100-36-ASM
SYNE1 V5456Finsufficiently evaluated not reviewedunknown
SYNE1 V5535Linsufficiently evaluated not reviewedunknown
SYNE1 V5606Luncertain benign, f=0.008unknown

Tentatively classified as benign, although Polyphen 2 predicts a damaging effect. Other recessive variants in this gene are reported to cause Emery-Dreifuss muscular dystrophy or spinocerebellar ataxia, but these are generally more severe and/or far earlier in the peptide sequence.

CGI sample GS00253-DNA_B02_200_37
SYNE1 R5662Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS19704-1100-36-ASM
SYNE1 R5709Qinsufficiently evaluated not reviewedunknown
SYNE1 R5780Qinsufficiently evaluated not reviewed, f=0.026unknown var-GS18558-1100-36-ASM
SYNE1 A5862Tinsufficiently evaluated not reviewedunknown
SYNE1 A5933Tinsufficiently evaluated not reviewed, f=0.001unknown
SYNE1 Q6083Shiftinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_F01_200_37
SYNE1 L6133Qinsufficiently evaluated noneunknown
SYNE1 Q6161Rinsufficiently evaluated not reviewedunknown
SYNE1 E6186Dinsufficiently evaluated not reviewedunknown
SYNE1 L6204Qinsufficiently evaluated noneunknown
SYNE1 V6212Iinsufficiently evaluated not reviewed, f=0.000unknown var-GS19017-1100-36-ASM
SYNE1 Q6232Rinsufficiently evaluated not reviewedunknown
SYNE1 E6257Dinsufficiently evaluated not reviewedunknown
SYNE1 P6555Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
SYNE1 M6566Iinsufficiently evaluated not reviewed, f=0.007unknown var-GS18508-1100-36-ASM
SYNE1 H6592Yinsufficiently evaluated not reviewedunknown
SYNE1 H6663Yinsufficiently evaluated not reviewedunknown
SYNE1 S6763Linsufficiently evaluated not reviewed, f=0.002unknown var-GS18501-1100-36-ASM
SYNE1 E6786Shiftlikely pathogenicrecessive

This may be rare and may cause cerebellar ataxia in a recessive manner. This is a disruptive variant, but most of reported causal variants have been upstream of this position — the few reports of causal downstream variants lack statistical significance. This protein is very large, it’s possible that truncating variants this far along in the product do not have as severe an effect.

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
SYNE1 T6822Sinsufficiently evaluated not reviewedunknown CGI sample GS000006909
SYNE1 W7132Xinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
SYNE1 F7231Vinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)
SYNE1 F7302Vinsufficiently evaluated not reviewed, f=0.993unknown

(1 web hit)

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)
var-GS19025-1100-36-ASM (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)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (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)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (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)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (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)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (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)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
SYNE1 Q7386Xinsufficiently evaluated pathogenicunknown

(1 web hit)

SYNE1 K7428Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
SYNE1 L7450Pinsufficiently evaluated not reviewedunknown
SYNE1 S7506Ginsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01175-DNA_D05 from PGP sample 1205491
SYNE1 L7521Pinsufficiently evaluated not reviewedunknown
SYNE1 Q7640Xinsufficiently evaluated pathogenicunknown

(3 web hits)

SYNE1 E7791Ginsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
SYNE1 D7844Ninsufficiently evaluated noneunknown
SYNE1 D7915Ninsufficiently evaluated none, f=0.010unknown var-GS18517-1100-36-ASM
SYNE1 S7947Pinsufficiently evaluated not reviewedunknown
SYNE1 S8018Pinsufficiently evaluated not reviewedunknown
SYNE1 I8096Minsufficiently evaluated noneunknown
SYNE1 A8097Sinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
SYNE1 I8167Minsufficiently evaluated noneunknown
SYNE1 A8168Sinsufficiently evaluated not reviewed, f=0.134unknown var-GS19020-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_F01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
SYNE1 G8252Ainsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
SYNE1 A8276Ginsufficiently evaluated not reviewedunknown hu34D5B9 exome
SYNE1 G8323Ainsufficiently evaluated not reviewed, f=0.376unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
SYNE1 D8584Ainsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
SYNE1 T8639Iinsufficiently evaluated noneunknown
SYNE1 G8682Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
SYNE1 R8687Qinsufficiently evaluated noneunknown
SYNE1 T8687Iinsufficiently evaluated none, f=0.053unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D01 from PGP sample 31286272
SYNE1 L8693Minsufficiently evaluated noneunknown
SYNE1 R8735Qinsufficiently evaluated none, f=0.038unknown var-GS19735-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS06994-1100-36-ASM
SYNE1 G8737Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS18942-1100-36-ASM
var-GS18947-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18940-1100-36-ASM
SYNE1 L8741Minsufficiently evaluated none, f=0.104unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19700-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_D01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20
Total results: 195

Gene search

"GENE" or "GENE A123C":

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