GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PLEC A472Vinsufficiently evaluated not reviewedunknown
PLEC A482Vinsufficiently evaluated not reviewedunknown
PLEC A490Vinsufficiently evaluated not reviewedunknown
PLEC A504Vinsufficiently evaluated not reviewedunknown
PLEC A508Vinsufficiently evaluated not reviewedunknown
PLEC A531Vinsufficiently evaluated not reviewedunknown
PLEC R537Qinsufficiently evaluated not reviewedunknown
PLEC R547Qinsufficiently evaluated not reviewedunknown
PLEC R555Qinsufficiently evaluated not reviewedunknown
PLEC R569Qinsufficiently evaluated not reviewedunknown
PLEC R573Qinsufficiently evaluated not reviewedunknown
PLEC R596Qinsufficiently evaluated not reviewedunknown
PLEC V633Minsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
PLEC A641Vinsufficiently evaluated not reviewed, f=0.287unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
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
hu34D5B9 exome
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18558-1100-36-ASM (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
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
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PLEC R706Qinsufficiently evaluated not reviewed, f=0.014unknown var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
PLEC S794Cinsufficiently evaluated not reviewed, f=0.001unknown var-GS19700-1100-36-ASM
PLEC A892Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS19026-1100-36-ASM
PLEC A987Tinsufficiently evaluated not reviewed, f=0.034unknown var-GS18501-1100-36-ASM
var-GS18505-1100-36-ASM
PLEC V991Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
PLEC R1154Qinsufficiently evaluated not reviewed, f=0.009unknown var-GS20502-1100-36-ASM
PLEC L1200Pinsufficiently evaluated not reviewedunknown CGI sample GS000006909
PLEC H1290Rinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
PLEC H1300Rinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
PLEC H1308Rinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
PLEC H1322Rinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
PLEC H1326Rinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
PLEC H1349Rinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
PLEC V1381Ginsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
PLEC R1386Qinsufficiently evaluated not reviewed, f=0.304unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
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
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (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 GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PLEC R1397Ginsufficiently evaluated not reviewed, f=0.002unknown var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
PLEC K1427Rinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
PLEC P1436Linsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
PLEC H1459Rinsufficiently evaluated not reviewed, f=0.566unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
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
hu3215A7 build 36 substitution variants (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
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 (hom)
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (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 GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PLEC A1548Tinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
PLEC E1684Kinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
PLEC E1817Shiftinsufficiently evaluated not reviewed, f=0.014unknown var-GS18504-1100-36-ASM
PLEC A1842Tinsufficiently evaluated not reviewedunknown CGI sample GS000006909
PLEC A2022Tinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18947-1100-36-ASM
PLEC A2025Vinsufficiently evaluated not reviewedunknown
PLEC A2035Vinsufficiently evaluated not reviewedunknown
PLEC A2043Vinsufficiently evaluated not reviewedunknown
PLEC A2057Vinsufficiently evaluated not reviewedunknown
PLEC R2058Winsufficiently evaluated not reviewed, f=0.010unknown var-GS18537-1100-36-ASM
PLEC A2061Vinsufficiently evaluated not reviewedunknown
PLEC A2084Vinsufficiently evaluated not reviewedunknown
PLEC R2110Shiftpathogenic, f=0.015recessive

Variants in this protein are implicated in causing Epidermolysis Bullosa with Pyloric Atresia, usually in a recessive manner. This is a severe disorder causing skin fragility and other symptoms and is often lethal in the neonatal period. A frameshift variant is predicted to be severely disruptive to this gene.

PLEC A2132Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
PLEC LQ2173QTinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
PLEC A2194Vinsufficiently evaluated not reviewed, f=0.258unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
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
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS06985-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PLEC A2242Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
PLEC A2390Tinsufficiently evaluated not reviewed, f=0.003unknown var-GS19026-1100-36-ASM
PLEC A2391Tinsufficiently evaluated not reviewedunknown
PLEC A2401Tinsufficiently evaluated not reviewedunknown
PLEC A2409Tinsufficiently evaluated not reviewedunknown
PLEC A2423Tinsufficiently evaluated not reviewedunknown
PLEC A2427Tinsufficiently evaluated not reviewedunknown
PLEC A2450Tinsufficiently evaluated not reviewedunknown
PLEC E2458EVQEinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01173-DNA_B02 from PGP sample 94378523
PLEC Q2470Rinsufficiently evaluated not reviewed, f=0.050unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS19834-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PLEC A2560Tinsufficiently evaluated not reviewed, f=0.005unknown CGI sample GS00253-DNA_E01_200_37
PLEC S2622Pinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
PLEC S2632Pinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
PLEC S2640Pinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
PLEC S2654Pinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
PLEC S2658Pinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
PLEC S2681Pinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
PLEC P2764Rinsufficiently evaluated not reviewed, f=0.003unknown var-GS19026-1100-36-ASM
PLEC S2791Pinsufficiently evaluated not reviewed, f=0.567unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
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
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
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 (hom)
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (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 GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PLEC R2800Hinsufficiently evaluated not reviewedunknown
PLEC R2810Hinsufficiently evaluated not reviewedunknown
PLEC R2818Hinsufficiently evaluated not reviewedunknown
PLEC R2821Winsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_B02 from PGP sample 94378523
PLEC R2832Hinsufficiently evaluated not reviewedunknown
PLEC R2836Hinsufficiently evaluated not reviewedunknown
PLEC R2859Hinsufficiently evaluated not reviewedunknown
PLEC Y2967Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
PLEC R2969Hinsufficiently evaluated not reviewed, f=0.307unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
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
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (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 GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS06994-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS20509-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PLEC V2993Iinsufficiently evaluated not reviewedunknown
PLEC A3002Vinsufficiently evaluated not reviewedunknown
PLEC V3003Iinsufficiently evaluated not reviewedunknown
PLEC V3011Iinsufficiently evaluated not reviewedunknown
PLEC A3012Vinsufficiently evaluated not reviewedunknown
PLEC A3020Vinsufficiently evaluated not reviewedunknown
PLEC V3025Iinsufficiently evaluated not reviewedunknown
PLEC V3029Iinsufficiently evaluated not reviewedunknown
PLEC A3034Vinsufficiently evaluated not reviewedunknown
PLEC A3038Vinsufficiently evaluated not reviewedunknown
PLEC V3052Iinsufficiently evaluated not reviewedunknown
PLEC A3061Vinsufficiently evaluated not reviewedunknown
PLEC D3077Einsufficiently evaluated not reviewed, f=0.077unknown var-GS19020-1100-36-ASM
var-GS19834-1100-36-ASM
PLEC V3162Iinsufficiently evaluated not reviewed, f=0.070unknown var-GS19025-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_F01_200_37
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
PLEC A3171Vinsufficiently evaluated not reviewed, f=0.051unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
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
hu34D5B9 exome
CGI sample GS000006909
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PLEC A3296Tinsufficiently evaluated not reviewed, f=0.000unknown var-GS19649-1100-36-ASM
PLEC T3317Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
PLEC T3327Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
PLEC T3335Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
PLEC T3349Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
PLEC T3353Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
PLEC T3376Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
PLEC Q3417Linsufficiently evaluated not reviewedunknown
PLEC Q3427Linsufficiently evaluated not reviewedunknown
PLEC Q3435Linsufficiently evaluated not reviewedunknown
PLEC Q3449Linsufficiently evaluated not reviewedunknown
PLEC Q3453Linsufficiently evaluated not reviewedunknown
PLEC G3458Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
PLEC Q3476Linsufficiently evaluated not reviewedunknown
PLEC T3486Minsufficiently evaluated not reviewed, f=0.024unknown hu3215A7 build 36 substitution variants
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
hu728FFF build 36 substitution variants
PLEC G3490Ainsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
PLEC Q3586Linsufficiently evaluated not reviewed, f=0.011unknown CGI sample GS00253-DNA_F01_200_37
PLEC R3676Cinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
PLEC A3816Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
PLEC T3875Minsufficiently evaluated not reviewedunknown
PLEC R3878Qinsufficiently evaluated not reviewed, f=0.000unknown var-GS21767-1100-36-ASM
PLEC T3885Minsufficiently evaluated not reviewedunknown
PLEC T3893Minsufficiently evaluated not reviewedunknown
PLEC T3907Minsufficiently evaluated not reviewedunknown
PLEC T3911Minsufficiently evaluated not reviewedunknown
PLEC T3934Minsufficiently evaluated not reviewedunknown
PLEC R3960Cinsufficiently evaluated not reviewedunknown
PLEC R3970Cinsufficiently evaluated not reviewedunknown
PLEC R3978Cinsufficiently evaluated not reviewedunknown
PLEC R3992Cinsufficiently evaluated not reviewedunknown
PLEC R3996Cinsufficiently evaluated not reviewedunknown
PLEC D4004Shiftinsufficiently evaluated not reviewedunknown
PLEC D4004Hinsufficiently evaluated not reviewed, f=0.033unknown var-GS21767-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
PLEC R4019Cinsufficiently evaluated not reviewedunknown
PLEC T4044Minsufficiently evaluated not reviewed, f=0.007unknown var-GS07357-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
PLEC V4077Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
PLEC T4080Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
PLEC R4129Cinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B01_200_37
PLEC A4377Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
PLEC P4410Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS18504-1100-36-ASM
PLEC V4440Minsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
PLEC T4539Minsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
PLEC A4605Tinsufficiently evaluated not reviewed, f=0.004unknown var-GS20502-1100-36-ASM
PLEC R4639Sinsufficiently evaluated not reviewed, f=0.009unknown var-GS19648-1100-36-ASM
PLEC GS4647VTinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_A07 from PGP sample 96240009
PLEC SG4648DRinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
PLEC M4652Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18501-1100-36-ASM
PLEC1 Q305Xinsufficiently evaluated pathogenicunknown

(14 web hits)

PLEC1 A472Vinsufficiently evaluated noneunknown
PLEC1 A482Vinsufficiently evaluated noneunknown
PLEC1 A490Vinsufficiently evaluated noneunknown
PLEC1 A504Vinsufficiently evaluated noneunknown
PLEC1 A508Vinsufficiently evaluated noneunknown
PLEC1 A531Vinsufficiently evaluated noneunknown
PLEC1 A641Vinsufficiently evaluated noneunknown
PLEC1 A818Tinsufficiently evaluated noneunknown
PLEC1 A828Tinsufficiently evaluated noneunknown
PLEC1 A836Tinsufficiently evaluated noneunknown
PLEC1 A850Tinsufficiently evaluated noneunknown
PLEC1 A854Tinsufficiently evaluated noneunknown
PLEC1 A877Tinsufficiently evaluated noneunknown
PLEC1 A987Tinsufficiently evaluated noneunknown
PLEC1 R1217Qinsufficiently evaluated noneunknown
PLEC1 R1227Qinsufficiently evaluated noneunknown
PLEC1 R1235Qinsufficiently evaluated noneunknown
PLEC1 R1249Qinsufficiently evaluated noneunknown
PLEC1 R1253Qinsufficiently evaluated noneunknown
PLEC1 R1276Qinsufficiently evaluated noneunknown
PLEC1 H1290Rinsufficiently evaluated noneunknown
PLEC1 H1300Rinsufficiently evaluated noneunknown
PLEC1 H1308Rinsufficiently evaluated noneunknown
PLEC1 H1322Rinsufficiently evaluated noneunknown
PLEC1 H1326Rinsufficiently evaluated noneunknown
PLEC1 H1349Rinsufficiently evaluated noneunknown
PLEC1 R1386Qinsufficiently evaluated noneunknown
PLEC1 H1459Rinsufficiently evaluated noneunknown
PLEC1 A2025Vinsufficiently evaluated noneunknown
PLEC1 A2035Vinsufficiently evaluated noneunknown
PLEC1 A2043Vinsufficiently evaluated noneunknown
PLEC1 A2057Vinsufficiently evaluated noneunknown
PLEC1 A2061Vinsufficiently evaluated noneunknown
PLEC1 A2073Vinsufficiently evaluated noneunknown
PLEC1 A2083Vinsufficiently evaluated noneunknown
PLEC1 A2084Vinsufficiently evaluated noneunknown
PLEC1 A2091Vinsufficiently evaluated noneunknown
PLEC1 A2105Vinsufficiently evaluated noneunknown
PLEC1 A2109Vinsufficiently evaluated noneunknown
PLEC1 R2110Winsufficiently evaluated pathogenicunknown

(14 web hits)

PLEC1 A2132Vinsufficiently evaluated noneunknown
PLEC1 A2194Vinsufficiently evaluated noneunknown
PLEC1 A2242Vinsufficiently evaluated noneunknown
PLEC1 A2391Tinsufficiently evaluated not reviewedunknown
PLEC1 V2396Ginsufficiently evaluated not reviewedunknown
PLEC1 A2401Tinsufficiently evaluated not reviewedunknown
PLEC1 V2406Ginsufficiently evaluated not reviewedunknown
PLEC1 A2409Tinsufficiently evaluated not reviewedunknown
PLEC1 V2414Ginsufficiently evaluated not reviewedunknown
PLEC1 A2423Tinsufficiently evaluated not reviewedunknown

(1 web hit)

PLEC1 A2427Tinsufficiently evaluated not reviewedunknown
PLEC1 V2428Ginsufficiently evaluated not reviewedunknown
PLEC1 V2432Ginsufficiently evaluated not reviewedunknown
PLEC1 A2450Tinsufficiently evaluated not reviewedunknown
PLEC1 V2455Ginsufficiently evaluated not reviewedunknown
PLEC1 V2534Minsufficiently evaluated noneunknown
PLEC1 V2544Minsufficiently evaluated noneunknown
PLEC1 V2552Minsufficiently evaluated noneunknown
PLEC1 A2560Tinsufficiently evaluated not reviewedunknown
PLEC1 V2565Ginsufficiently evaluated not reviewedunknown
PLEC1 V2566Minsufficiently evaluated noneunknown
PLEC1 V2570Minsufficiently evaluated noneunknown
PLEC1 V2593Minsufficiently evaluated noneunknown
PLEC1 S2622Pinsufficiently evaluated noneunknown
PLEC1 S2632Pinsufficiently evaluated noneunknown
PLEC1 R2639Qinsufficiently evaluated noneunknown
PLEC1 S2640Pinsufficiently evaluated noneunknown
PLEC1 R2649Qinsufficiently evaluated noneunknown
PLEC1 S2654Pinsufficiently evaluated noneunknown
PLEC1 R2657Qinsufficiently evaluated noneunknown
PLEC1 S2658Pinsufficiently evaluated noneunknown
PLEC1 R2671Qinsufficiently evaluated noneunknown
PLEC1 R2675Qinsufficiently evaluated noneunknown
PLEC1 S2681Pinsufficiently evaluated noneunknown
PLEC1 R2698Qinsufficiently evaluated noneunknown
PLEC1 V2703Minsufficiently evaluated noneunknown
PLEC1 S2791Pinsufficiently evaluated noneunknown
PLEC1 R2800Hinsufficiently evaluated noneunknown
PLEC1 R2808Qinsufficiently evaluated noneunknown
PLEC1 R2810Hinsufficiently evaluated noneunknown
PLEC1 R2818Hinsufficiently evaluated noneunknown
PLEC1 R2832Hinsufficiently evaluated noneunknown
PLEC1 R2836Hinsufficiently evaluated noneunknown
PLEC1 R2859Hinsufficiently evaluated noneunknown
PLEC1 D2908Einsufficiently evaluated noneunknown
PLEC1 D2918Einsufficiently evaluated noneunknown
PLEC1 D2926Einsufficiently evaluated noneunknown
PLEC1 D2940Einsufficiently evaluated noneunknown
PLEC1 D2944Einsufficiently evaluated noneunknown
PLEC1 D2967Einsufficiently evaluated noneunknown
PLEC1 R2969Hinsufficiently evaluated noneunknown
PLEC1 V2993Iinsufficiently evaluated noneunknown
PLEC1 A3002Vinsufficiently evaluated noneunknown
PLEC1 V3003Iinsufficiently evaluated noneunknown
PLEC1 V3011Iinsufficiently evaluated noneunknown
PLEC1 A3012Vinsufficiently evaluated noneunknown
PLEC1 A3020Vinsufficiently evaluated noneunknown
PLEC1 V3025Iinsufficiently evaluated noneunknown
PLEC1 R3029Xinsufficiently evaluated pathogenicunknown

(3 web hits)

PLEC1 V3029Iinsufficiently evaluated noneunknown
PLEC1 A3034Vinsufficiently evaluated noneunknown
PLEC1 A3038Vinsufficiently evaluated noneunknown
PLEC1 V3052Iinsufficiently evaluated noneunknown
PLEC1 A3061Vinsufficiently evaluated noneunknown
PLEC1 S3065Xinsufficiently evaluated not reviewedunknown
PLEC1 S3075Xinsufficiently evaluated not reviewedunknown
PLEC1 D3077Einsufficiently evaluated noneunknown
PLEC1 S3083Xinsufficiently evaluated not reviewedunknown
PLEC1 S3097Xinsufficiently evaluated not reviewedunknown
PLEC1 S3101Xinsufficiently evaluated not reviewedunknown
PLEC1 S3124Xinsufficiently evaluated not reviewedunknown
PLEC1 V3162Iinsufficiently evaluated noneunknown
PLEC1 A3171Vinsufficiently evaluated noneunknown
PLEC1 E3208Kinsufficiently evaluated not reviewedunknown
PLEC1 E3218Kinsufficiently evaluated not reviewedunknown
PLEC1 E3226Kinsufficiently evaluated not reviewedunknown
PLEC1 S3234Xinsufficiently evaluated not reviewedunknown
PLEC1 E3240Kinsufficiently evaluated not reviewedunknown
PLEC1 E3244Kinsufficiently evaluated not reviewedunknown
PLEC1 E3267Kinsufficiently evaluated not reviewedunknown
PLEC1 G3289Rinsufficiently evaluated noneunknown

(1 web hit)

PLEC1 G3299Rinsufficiently evaluated noneunknown
PLEC1 G3307Rinsufficiently evaluated noneunknown
PLEC1 T3317Minsufficiently evaluated unknownunknown
PLEC1 G3321Rinsufficiently evaluated noneunknown
PLEC1 G3325Rinsufficiently evaluated noneunknown
PLEC1 T3327Minsufficiently evaluated unknownunknown
PLEC1 T3335Minsufficiently evaluated unknownunknown
PLEC1 G3348Rinsufficiently evaluated noneunknown
PLEC1 T3349Minsufficiently evaluated unknownunknown
PLEC1 T3353Minsufficiently evaluated unknownunknown
PLEC1 T3363Ainsufficiently evaluated not reviewedunknown
PLEC1 T3373Ainsufficiently evaluated not reviewedunknown
PLEC1 T3376Minsufficiently evaluated unknownunknown
PLEC1 E3377Kinsufficiently evaluated not reviewedunknown
PLEC1 T3381Ainsufficiently evaluated not reviewedunknown
PLEC1 T3395Ainsufficiently evaluated not reviewedunknown
PLEC1 T3399Ainsufficiently evaluated not reviewedunknown
PLEC1 T3422Ainsufficiently evaluated not reviewedunknown
PLEC1 G3458Rinsufficiently evaluated noneunknown
PLEC1 T3486Minsufficiently evaluated unknownunknown
PLEC1 T3532Ainsufficiently evaluated not reviewedunknown
PLEC1 P3704Linsufficiently evaluated noneunknown

(1 web hit)

PLEC1 P3714Linsufficiently evaluated noneunknown
PLEC1 P3722Linsufficiently evaluated noneunknown
PLEC1 P3736Linsufficiently evaluated noneunknown
PLEC1 G3738Sinsufficiently evaluated noneunknown
PLEC1 P3740Linsufficiently evaluated noneunknown
PLEC1 G3748Sinsufficiently evaluated noneunknown
PLEC1 G3756Sinsufficiently evaluated noneunknown
PLEC1 P3763Linsufficiently evaluated noneunknown
PLEC1 G3770Sinsufficiently evaluated noneunknown
PLEC1 G3774Sinsufficiently evaluated noneunknown
PLEC1 G3797Sinsufficiently evaluated noneunknown
PLEC1 D3835Hinsufficiently evaluated noneunknown
PLEC1 D3845Hinsufficiently evaluated noneunknown
PLEC1 D3853Hinsufficiently evaluated noneunknown
PLEC1 D3867Hinsufficiently evaluated noneunknown
PLEC1 D3871Hinsufficiently evaluated noneunknown
PLEC1 P3873Linsufficiently evaluated noneunknown
PLEC1 D3894Hinsufficiently evaluated noneunknown
PLEC1 G3907Sinsufficiently evaluated noneunknown
PLEC1 M3997Iinsufficiently evaluated noneunknown
PLEC1 D4004Hinsufficiently evaluated noneunknown
PLEC1 M4007Iinsufficiently evaluated noneunknown
PLEC1 M4015Iinsufficiently evaluated noneunknown
PLEC1 M4029Iinsufficiently evaluated noneunknown
PLEC1 M4033Iinsufficiently evaluated noneunknown
PLEC1 M4056Iinsufficiently evaluated noneunknown
PLEC1 M4166Iinsufficiently evaluated noneunknown
PLEC1 T4370Rinsufficiently evaluated not reviewedunknown
PLEC1 T4380Rinsufficiently evaluated not reviewedunknown
PLEC1 T4388Rinsufficiently evaluated not reviewedunknown
PLEC1 T4402Rinsufficiently evaluated not reviewedunknown
PLEC1 T4406Rinsufficiently evaluated not reviewedunknown
PLEC1 T4429Rinsufficiently evaluated not reviewedunknown
PLEC1 A4436Tinsufficiently evaluated not reviewedunknown
PLEC1 A4446Tinsufficiently evaluated not reviewedunknown
PLEC1 A4454Tinsufficiently evaluated not reviewedunknown
PLEC1 A4468Tinsufficiently evaluated not reviewedunknown
PLEC1 A4472Tinsufficiently evaluated not reviewedunknown
PLEC1 A4495Tinsufficiently evaluated not reviewedunknown
PLEC1 T4539Rinsufficiently evaluated not reviewedunknown
PLEC1 A4605Tinsufficiently evaluated not reviewedunknown
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33
Total results: 324

Gene search

"GENE" or "GENE A123C":

Log in