Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.143916374A=CA1826037066PLECc.13579T= (p.Ser4527=)
c.13498T= (p.Ser4500=)
c.13165T= (p.Ser4389=)
c.13378T= (p.Ser4460=)
c.13447T= (p.Ser4483=)
c.10147T= (p.Ser3383=)
c.13858T= (p.Ser4620=)
c.13381T= (p.Ser4461=)
c.13405T= (p.Ser4469=)
c.13459T= (p.Ser4487=)
c.13351T= (p.Ser4451=)
c.13528T= (p.Ser4510=)
c.13516T= (p.Ser4506=)
c.13873T= (p.Ser4625=)
c.13474T= (p.Ser4492=)
c.13462T= (p.Ser4488=)
c.13420T= (p.Ser4474=)
c.13396T= (p.Ser4466=)
c.13366T= (p.Ser4456=)
c.13543T= (p.Ser4515=)
c.13393T= (p.Ser4465=)
c.10093T= (p.Ser3365=)
8g.143916374A>CCA372474410PLECc.13579T>G (p.Ser4527Ala)
c.13498T>G (p.Ser4500Ala)
c.13165T>G (p.Ser4389Ala)
c.13378T>G (p.Ser4460Ala)
c.13447T>G (p.Ser4483Ala)
c.10147T>G (p.Ser3383Ala)
c.13858T>G (p.Ser4620Ala)
c.13381T>G (p.Ser4461Ala)
c.13405T>G (p.Ser4469Ala)
c.13459T>G (p.Ser4487Ala)
c.13351T>G (p.Ser4451Ala)
c.13528T>G (p.Ser4510Ala)
c.13516T>G (p.Ser4506Ala)
c.13873T>G (p.Ser4625Ala)
c.13474T>G (p.Ser4492Ala)
c.13462T>G (p.Ser4488Ala)
c.13420T>G (p.Ser4474Ala)
c.13396T>G (p.Ser4466Ala)
c.13366T>G (p.Ser4456Ala)
c.13543T>G (p.Ser4515Ala)
c.13393T>G (p.Ser4465Ala)
c.10093T>G (p.Ser3365Ala)
 dbSNP gnomAD v3 gnomAD v4
8g.143916374A>GCA372474412PLECc.13579T>C (p.Ser4527Pro)
c.13498T>C (p.Ser4500Pro)
c.13165T>C (p.Ser4389Pro)
c.13378T>C (p.Ser4460Pro)
c.13447T>C (p.Ser4483Pro)
c.10147T>C (p.Ser3383Pro)
c.13858T>C (p.Ser4620Pro)
c.13381T>C (p.Ser4461Pro)
c.13405T>C (p.Ser4469Pro)
c.13459T>C (p.Ser4487Pro)
c.13351T>C (p.Ser4451Pro)
c.13528T>C (p.Ser4510Pro)
c.13516T>C (p.Ser4506Pro)
c.13873T>C (p.Ser4625Pro)
c.13474T>C (p.Ser4492Pro)
c.13462T>C (p.Ser4488Pro)
c.13420T>C (p.Ser4474Pro)
c.13396T>C (p.Ser4466Pro)
c.13366T>C (p.Ser4456Pro)
c.13543T>C (p.Ser4515Pro)
c.13393T>C (p.Ser4465Pro)
c.10093T>C (p.Ser3365Pro)
8g.143916374A>TCA372474414PLECc.13579T>A (p.Ser4527Thr)
c.13498T>A (p.Ser4500Thr)
c.13165T>A (p.Ser4389Thr)
c.13378T>A (p.Ser4460Thr)
c.13447T>A (p.Ser4483Thr)
c.10147T>A (p.Ser3383Thr)
c.13858T>A (p.Ser4620Thr)
c.13381T>A (p.Ser4461Thr)
c.13405T>A (p.Ser4469Thr)
c.13459T>A (p.Ser4487Thr)
c.13351T>A (p.Ser4451Thr)
c.13528T>A (p.Ser4510Thr)
c.13516T>A (p.Ser4506Thr)
c.13873T>A (p.Ser4625Thr)
c.13474T>A (p.Ser4492Thr)
c.13462T>A (p.Ser4488Thr)
c.13420T>A (p.Ser4474Thr)
c.13396T>A (p.Ser4466Thr)
c.13366T>A (p.Ser4456Thr)
c.13543T>A (p.Ser4515Thr)
c.13393T>A (p.Ser4465Thr)
c.10093T>A (p.Ser3365Thr)
8g.143916375G>ACA463526294PLECc.13578C>T (p.Gly4526=)
c.13497C>T (p.Gly4499=)
c.13164C>T (p.Gly4388=)
c.13377C>T (p.Gly4459=)
c.13446C>T (p.Gly4482=)
c.10146C>T (p.Gly3382=)
c.13857C>T (p.Gly4619=)
c.13380C>T (p.Gly4460=)
c.13404C>T (p.Gly4468=)
c.13458C>T (p.Gly4486=)
c.13350C>T (p.Gly4450=)
c.13527C>T (p.Gly4509=)
c.13515C>T (p.Gly4505=)
c.13872C>T (p.Gly4624=)
c.13473C>T (p.Gly4491=)
c.13461C>T (p.Gly4487=)
c.13419C>T (p.Gly4473=)
c.13395C>T (p.Gly4465=)
c.13365C>T (p.Gly4455=)
c.13542C>T (p.Gly4514=)
c.13392C>T (p.Gly4464=)
c.10092C>T (p.Gly3364=)
 dbSNP gnomAD v2 gnomAD v4
8g.143916375G>CCA463526295PLECc.13578C>G (p.Gly4526=)
c.13497C>G (p.Gly4499=)
c.13164C>G (p.Gly4388=)
c.13377C>G (p.Gly4459=)
c.13446C>G (p.Gly4482=)
c.10146C>G (p.Gly3382=)
c.13857C>G (p.Gly4619=)
c.13380C>G (p.Gly4460=)
c.13404C>G (p.Gly4468=)
c.13458C>G (p.Gly4486=)
c.13350C>G (p.Gly4450=)
c.13527C>G (p.Gly4509=)
c.13515C>G (p.Gly4505=)
c.13872C>G (p.Gly4624=)
c.13473C>G (p.Gly4491=)
c.13461C>G (p.Gly4487=)
c.13419C>G (p.Gly4473=)
c.13395C>G (p.Gly4465=)
c.13365C>G (p.Gly4455=)
c.13542C>G (p.Gly4514=)
c.13392C>G (p.Gly4464=)
c.10092C>G (p.Gly3364=)
8g.143916375G=CA1826037068PLECc.13578C= (p.Gly4526=)
c.13497C= (p.Gly4499=)
c.13164C= (p.Gly4388=)
c.13377C= (p.Gly4459=)
c.13446C= (p.Gly4482=)
c.10146C= (p.Gly3382=)
c.13857C= (p.Gly4619=)
c.13380C= (p.Gly4460=)
c.13404C= (p.Gly4468=)
c.13458C= (p.Gly4486=)
c.13350C= (p.Gly4450=)
c.13527C= (p.Gly4509=)
c.13515C= (p.Gly4505=)
c.13872C= (p.Gly4624=)
c.13473C= (p.Gly4491=)
c.13461C= (p.Gly4487=)
c.13419C= (p.Gly4473=)
c.13395C= (p.Gly4465=)
c.13365C= (p.Gly4455=)
c.13542C= (p.Gly4514=)
c.13392C= (p.Gly4464=)
c.10092C= (p.Gly3364=)
8g.143916375G>TCA463526296PLECc.13578C>A (p.Gly4526=)
c.13497C>A (p.Gly4499=)
c.13164C>A (p.Gly4388=)
c.13377C>A (p.Gly4459=)
c.13446C>A (p.Gly4482=)
c.10146C>A (p.Gly3382=)
c.13857C>A (p.Gly4619=)
c.13380C>A (p.Gly4460=)
c.13404C>A (p.Gly4468=)
c.13458C>A (p.Gly4486=)
c.13350C>A (p.Gly4450=)
c.13527C>A (p.Gly4509=)
c.13515C>A (p.Gly4505=)
c.13872C>A (p.Gly4624=)
c.13473C>A (p.Gly4491=)
c.13461C>A (p.Gly4487=)
c.13419C>A (p.Gly4473=)
c.13395C>A (p.Gly4465=)
c.13365C>A (p.Gly4455=)
c.13542C>A (p.Gly4514=)
c.13392C>A (p.Gly4464=)
c.10092C>A (p.Gly3364=)
8g.143916376C>ACA372474415PLECc.13577G>T (p.Gly4526Val)
c.13496G>T (p.Gly4499Val)
c.13163G>T (p.Gly4388Val)
c.13376G>T (p.Gly4459Val)
c.13445G>T (p.Gly4482Val)
c.10145G>T (p.Gly3382Val)
c.13856G>T (p.Gly4619Val)
c.13379G>T (p.Gly4460Val)
c.13403G>T (p.Gly4468Val)
c.13457G>T (p.Gly4486Val)
c.13349G>T (p.Gly4450Val)
c.13526G>T (p.Gly4509Val)
c.13514G>T (p.Gly4505Val)
c.13871G>T (p.Gly4624Val)
c.13472G>T (p.Gly4491Val)
c.13460G>T (p.Gly4487Val)
c.13418G>T (p.Gly4473Val)
c.13394G>T (p.Gly4465Val)
c.13364G>T (p.Gly4455Val)
c.13541G>T (p.Gly4514Val)
c.13391G>T (p.Gly4464Val)
c.10091G>T (p.Gly3364Val)
 ClinVar dbSNP gnomAD v4
8g.143916376C=CA1826037071PLECc.13577G= (p.Gly4526=)
c.13496G= (p.Gly4499=)
c.13163G= (p.Gly4388=)
c.13376G= (p.Gly4459=)
c.13445G= (p.Gly4482=)
c.10145G= (p.Gly3382=)
c.13856G= (p.Gly4619=)
c.13379G= (p.Gly4460=)
c.13403G= (p.Gly4468=)
c.13457G= (p.Gly4486=)
c.13349G= (p.Gly4450=)
c.13526G= (p.Gly4509=)
c.13514G= (p.Gly4505=)
c.13871G= (p.Gly4624=)
c.13472G= (p.Gly4491=)
c.13460G= (p.Gly4487=)
c.13418G= (p.Gly4473=)
c.13394G= (p.Gly4465=)
c.13364G= (p.Gly4455=)
c.13541G= (p.Gly4514=)
c.13391G= (p.Gly4464=)
c.10091G= (p.Gly3364=)
8g.143916376C>GCA372474416PLECc.13577G>C (p.Gly4526Ala)
c.13496G>C (p.Gly4499Ala)
c.13163G>C (p.Gly4388Ala)
c.13376G>C (p.Gly4459Ala)
c.13445G>C (p.Gly4482Ala)
c.10145G>C (p.Gly3382Ala)
c.13856G>C (p.Gly4619Ala)
c.13379G>C (p.Gly4460Ala)
c.13403G>C (p.Gly4468Ala)
c.13457G>C (p.Gly4486Ala)
c.13349G>C (p.Gly4450Ala)
c.13526G>C (p.Gly4509Ala)
c.13514G>C (p.Gly4505Ala)
c.13871G>C (p.Gly4624Ala)
c.13472G>C (p.Gly4491Ala)
c.13460G>C (p.Gly4487Ala)
c.13418G>C (p.Gly4473Ala)
c.13394G>C (p.Gly4465Ala)
c.13364G>C (p.Gly4455Ala)
c.13541G>C (p.Gly4514Ala)
c.13391G>C (p.Gly4464Ala)
c.10091G>C (p.Gly3364Ala)
8g.143916376C>TCA372474418PLECc.13577G>A (p.Gly4526Asp)
c.13496G>A (p.Gly4499Asp)
c.13163G>A (p.Gly4388Asp)
c.13376G>A (p.Gly4459Asp)
c.13445G>A (p.Gly4482Asp)
c.10145G>A (p.Gly3382Asp)
c.13856G>A (p.Gly4619Asp)
c.13379G>A (p.Gly4460Asp)
c.13403G>A (p.Gly4468Asp)
c.13457G>A (p.Gly4486Asp)
c.13349G>A (p.Gly4450Asp)
c.13526G>A (p.Gly4509Asp)
c.13514G>A (p.Gly4505Asp)
c.13871G>A (p.Gly4624Asp)
c.13472G>A (p.Gly4491Asp)
c.13460G>A (p.Gly4487Asp)
c.13418G>A (p.Gly4473Asp)
c.13394G>A (p.Gly4465Asp)
c.13364G>A (p.Gly4455Asp)
c.13541G>A (p.Gly4514Asp)
c.13391G>A (p.Gly4464Asp)
c.10091G>A (p.Gly3364Asp)
 dbSNP gnomAD v2
8g.143916377C>ACA372474423PLECc.13576G>T (p.Gly4526Cys)
c.13495G>T (p.Gly4499Cys)
c.13162G>T (p.Gly4388Cys)
c.13375G>T (p.Gly4459Cys)
c.13444G>T (p.Gly4482Cys)
c.10144G>T (p.Gly3382Cys)
c.13855G>T (p.Gly4619Cys)
c.13378G>T (p.Gly4460Cys)
c.13402G>T (p.Gly4468Cys)
c.13456G>T (p.Gly4486Cys)
c.13348G>T (p.Gly4450Cys)
c.13525G>T (p.Gly4509Cys)
c.13513G>T (p.Gly4505Cys)
c.13870G>T (p.Gly4624Cys)
c.13471G>T (p.Gly4491Cys)
c.13459G>T (p.Gly4487Cys)
c.13417G>T (p.Gly4473Cys)
c.13393G>T (p.Gly4465Cys)
c.13363G>T (p.Gly4455Cys)
c.13540G>T (p.Gly4514Cys)
c.13390G>T (p.Gly4464Cys)
c.10090G>T (p.Gly3364Cys)
8g.143916377C=CA1826037077PLECc.13576G= (p.Gly4526=)
c.13495G= (p.Gly4499=)
c.13162G= (p.Gly4388=)
c.13375G= (p.Gly4459=)
c.13444G= (p.Gly4482=)
c.10144G= (p.Gly3382=)
c.13855G= (p.Gly4619=)
c.13378G= (p.Gly4460=)
c.13402G= (p.Gly4468=)
c.13456G= (p.Gly4486=)
c.13348G= (p.Gly4450=)
c.13525G= (p.Gly4509=)
c.13513G= (p.Gly4505=)
c.13870G= (p.Gly4624=)
c.13471G= (p.Gly4491=)
c.13459G= (p.Gly4487=)
c.13417G= (p.Gly4473=)
c.13393G= (p.Gly4465=)
c.13363G= (p.Gly4455=)
c.13540G= (p.Gly4514=)
c.13390G= (p.Gly4464=)
c.10090G= (p.Gly3364=)
8g.143916377C>GCA372474421PLECc.13576G>C (p.Gly4526Arg)
c.13495G>C (p.Gly4499Arg)
c.13162G>C (p.Gly4388Arg)
c.13375G>C (p.Gly4459Arg)
c.13444G>C (p.Gly4482Arg)
c.10144G>C (p.Gly3382Arg)
c.13855G>C (p.Gly4619Arg)
c.13378G>C (p.Gly4460Arg)
c.13402G>C (p.Gly4468Arg)
c.13456G>C (p.Gly4486Arg)
c.13348G>C (p.Gly4450Arg)
c.13525G>C (p.Gly4509Arg)
c.13513G>C (p.Gly4505Arg)
c.13870G>C (p.Gly4624Arg)
c.13471G>C (p.Gly4491Arg)
c.13459G>C (p.Gly4487Arg)
c.13417G>C (p.Gly4473Arg)
c.13393G>C (p.Gly4465Arg)
c.13363G>C (p.Gly4455Arg)
c.13540G>C (p.Gly4514Arg)
c.13390G>C (p.Gly4464Arg)
c.10090G>C (p.Gly3364Arg)
8g.143916377C>TCA4923807PLECc.13576G>A (p.Gly4526Ser)
c.13495G>A (p.Gly4499Ser)
c.13162G>A (p.Gly4388Ser)
c.13375G>A (p.Gly4459Ser)
c.13444G>A (p.Gly4482Ser)
c.10144G>A (p.Gly3382Ser)
c.13855G>A (p.Gly4619Ser)
c.13378G>A (p.Gly4460Ser)
c.13402G>A (p.Gly4468Ser)
c.13456G>A (p.Gly4486Ser)
c.13348G>A (p.Gly4450Ser)
c.13525G>A (p.Gly4509Ser)
c.13513G>A (p.Gly4505Ser)
c.13870G>A (p.Gly4624Ser)
c.13471G>A (p.Gly4491Ser)
c.13459G>A (p.Gly4487Ser)
c.13417G>A (p.Gly4473Ser)
c.13393G>A (p.Gly4465Ser)
c.13363G>A (p.Gly4455Ser)
c.13540G>A (p.Gly4514Ser)
c.13390G>A (p.Gly4464Ser)
c.10090G>A (p.Gly3364Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916378G>ACA4923808PLECc.13575C>T (p.Ser4525=)
c.13494C>T (p.Ser4498=)
c.13161C>T (p.Ser4387=)
c.13374C>T (p.Ser4458=)
c.13443C>T (p.Ser4481=)
c.10143C>T (p.Ser3381=)
c.13854C>T (p.Ser4618=)
c.13377C>T (p.Ser4459=)
c.13401C>T (p.Ser4467=)
c.13455C>T (p.Ser4485=)
c.13347C>T (p.Ser4449=)
c.13524C>T (p.Ser4508=)
c.13512C>T (p.Ser4504=)
c.13869C>T (p.Ser4623=)
c.13470C>T (p.Ser4490=)
c.13458C>T (p.Ser4486=)
c.13416C>T (p.Ser4472=)
c.13392C>T (p.Ser4464=)
c.13362C>T (p.Ser4454=)
c.13539C>T (p.Ser4513=)
c.13389C>T (p.Ser4463=)
c.10089C>T (p.Ser3363=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916378G>CCA372474426PLECc.13575C>G (p.Ser4525Arg)
c.13494C>G (p.Ser4498Arg)
c.13161C>G (p.Ser4387Arg)
c.13374C>G (p.Ser4458Arg)
c.13443C>G (p.Ser4481Arg)
c.10143C>G (p.Ser3381Arg)
c.13854C>G (p.Ser4618Arg)
c.13377C>G (p.Ser4459Arg)
c.13401C>G (p.Ser4467Arg)
c.13455C>G (p.Ser4485Arg)
c.13347C>G (p.Ser4449Arg)
c.13524C>G (p.Ser4508Arg)
c.13512C>G (p.Ser4504Arg)
c.13869C>G (p.Ser4623Arg)
c.13470C>G (p.Ser4490Arg)
c.13458C>G (p.Ser4486Arg)
c.13416C>G (p.Ser4472Arg)
c.13392C>G (p.Ser4464Arg)
c.13362C>G (p.Ser4454Arg)
c.13539C>G (p.Ser4513Arg)
c.13389C>G (p.Ser4463Arg)
c.10089C>G (p.Ser3363Arg)
8g.143916378G=CA1826037079PLECc.13575C= (p.Ser4525=)
c.13494C= (p.Ser4498=)
c.13161C= (p.Ser4387=)
c.13374C= (p.Ser4458=)
c.13443C= (p.Ser4481=)
c.10143C= (p.Ser3381=)
c.13854C= (p.Ser4618=)
c.13377C= (p.Ser4459=)
c.13401C= (p.Ser4467=)
c.13455C= (p.Ser4485=)
c.13347C= (p.Ser4449=)
c.13524C= (p.Ser4508=)
c.13512C= (p.Ser4504=)
c.13869C= (p.Ser4623=)
c.13470C= (p.Ser4490=)
c.13458C= (p.Ser4486=)
c.13416C= (p.Ser4472=)
c.13392C= (p.Ser4464=)
c.13362C= (p.Ser4454=)
c.13539C= (p.Ser4513=)
c.13389C= (p.Ser4463=)
c.10089C= (p.Ser3363=)
8g.143916378G>TCA372474428PLECc.13575C>A (p.Ser4525Arg)
c.13494C>A (p.Ser4498Arg)
c.13161C>A (p.Ser4387Arg)
c.13374C>A (p.Ser4458Arg)
c.13443C>A (p.Ser4481Arg)
c.10143C>A (p.Ser3381Arg)
c.13854C>A (p.Ser4618Arg)
c.13377C>A (p.Ser4459Arg)
c.13401C>A (p.Ser4467Arg)
c.13455C>A (p.Ser4485Arg)
c.13347C>A (p.Ser4449Arg)
c.13524C>A (p.Ser4508Arg)
c.13512C>A (p.Ser4504Arg)
c.13869C>A (p.Ser4623Arg)
c.13470C>A (p.Ser4490Arg)
c.13458C>A (p.Ser4486Arg)
c.13416C>A (p.Ser4472Arg)
c.13392C>A (p.Ser4464Arg)
c.13362C>A (p.Ser4454Arg)
c.13539C>A (p.Ser4513Arg)
c.13389C>A (p.Ser4463Arg)
c.10089C>A (p.Ser3363Arg)
 gnomAD v4
8g.143916379C>ACA372474430PLECc.13574G>T (p.Ser4525Ile)
c.13493G>T (p.Ser4498Ile)
c.13160G>T (p.Ser4387Ile)
c.13373G>T (p.Ser4458Ile)
c.13442G>T (p.Ser4481Ile)
c.10142G>T (p.Ser3381Ile)
c.13853G>T (p.Ser4618Ile)
c.13376G>T (p.Ser4459Ile)
c.13400G>T (p.Ser4467Ile)
c.13454G>T (p.Ser4485Ile)
c.13346G>T (p.Ser4449Ile)
c.13523G>T (p.Ser4508Ile)
c.13511G>T (p.Ser4504Ile)
c.13868G>T (p.Ser4623Ile)
c.13469G>T (p.Ser4490Ile)
c.13457G>T (p.Ser4486Ile)
c.13415G>T (p.Ser4472Ile)
c.13391G>T (p.Ser4464Ile)
c.13361G>T (p.Ser4454Ile)
c.13538G>T (p.Ser4513Ile)
c.13388G>T (p.Ser4463Ile)
c.10088G>T (p.Ser3363Ile)
8g.143916379C>GCA372474435PLECc.13574G>C (p.Ser4525Thr)
c.13493G>C (p.Ser4498Thr)
c.13160G>C (p.Ser4387Thr)
c.13373G>C (p.Ser4458Thr)
c.13442G>C (p.Ser4481Thr)
c.10142G>C (p.Ser3381Thr)
c.13853G>C (p.Ser4618Thr)
c.13376G>C (p.Ser4459Thr)
c.13400G>C (p.Ser4467Thr)
c.13454G>C (p.Ser4485Thr)
c.13346G>C (p.Ser4449Thr)
c.13523G>C (p.Ser4508Thr)
c.13511G>C (p.Ser4504Thr)
c.13868G>C (p.Ser4623Thr)
c.13469G>C (p.Ser4490Thr)
c.13457G>C (p.Ser4486Thr)
c.13415G>C (p.Ser4472Thr)
c.13391G>C (p.Ser4464Thr)
c.13361G>C (p.Ser4454Thr)
c.13538G>C (p.Ser4513Thr)
c.13388G>C (p.Ser4463Thr)
c.10088G>C (p.Ser3363Thr)
8g.143916379C>TCA372474436PLECc.13574G>A (p.Ser4525Asn)
c.13493G>A (p.Ser4498Asn)
c.13160G>A (p.Ser4387Asn)
c.13373G>A (p.Ser4458Asn)
c.13442G>A (p.Ser4481Asn)
c.10142G>A (p.Ser3381Asn)
c.13853G>A (p.Ser4618Asn)
c.13376G>A (p.Ser4459Asn)
c.13400G>A (p.Ser4467Asn)
c.13454G>A (p.Ser4485Asn)
c.13346G>A (p.Ser4449Asn)
c.13523G>A (p.Ser4508Asn)
c.13511G>A (p.Ser4504Asn)
c.13868G>A (p.Ser4623Asn)
c.13469G>A (p.Ser4490Asn)
c.13457G>A (p.Ser4486Asn)
c.13415G>A (p.Ser4472Asn)
c.13391G>A (p.Ser4464Asn)
c.13361G>A (p.Ser4454Asn)
c.13538G>A (p.Ser4513Asn)
c.13388G>A (p.Ser4463Asn)
c.10088G>A (p.Ser3363Asn)
8g.143916380T>ACA372474437PLECc.13573A>T (p.Ser4525Cys)
c.13492A>T (p.Ser4498Cys)
c.13159A>T (p.Ser4387Cys)
c.13372A>T (p.Ser4458Cys)
c.13441A>T (p.Ser4481Cys)
c.10141A>T (p.Ser3381Cys)
c.13852A>T (p.Ser4618Cys)
c.13375A>T (p.Ser4459Cys)
c.13399A>T (p.Ser4467Cys)
c.13453A>T (p.Ser4485Cys)
c.13345A>T (p.Ser4449Cys)
c.13522A>T (p.Ser4508Cys)
c.13510A>T (p.Ser4504Cys)
c.13867A>T (p.Ser4623Cys)
c.13468A>T (p.Ser4490Cys)
c.13456A>T (p.Ser4486Cys)
c.13414A>T (p.Ser4472Cys)
c.13390A>T (p.Ser4464Cys)
c.13360A>T (p.Ser4454Cys)
c.13537A>T (p.Ser4513Cys)
c.13387A>T (p.Ser4463Cys)
c.10087A>T (p.Ser3363Cys)
8g.143916380T>CCA372474439PLECc.13573A>G (p.Ser4525Gly)
c.13492A>G (p.Ser4498Gly)
c.13159A>G (p.Ser4387Gly)
c.13372A>G (p.Ser4458Gly)
c.13441A>G (p.Ser4481Gly)
c.10141A>G (p.Ser3381Gly)
c.13852A>G (p.Ser4618Gly)
c.13375A>G (p.Ser4459Gly)
c.13399A>G (p.Ser4467Gly)
c.13453A>G (p.Ser4485Gly)
c.13345A>G (p.Ser4449Gly)
c.13522A>G (p.Ser4508Gly)
c.13510A>G (p.Ser4504Gly)
c.13867A>G (p.Ser4623Gly)
c.13468A>G (p.Ser4490Gly)
c.13456A>G (p.Ser4486Gly)
c.13414A>G (p.Ser4472Gly)
c.13390A>G (p.Ser4464Gly)
c.13360A>G (p.Ser4454Gly)
c.13537A>G (p.Ser4513Gly)
c.13387A>G (p.Ser4463Gly)
c.10087A>G (p.Ser3363Gly)
 gnomAD v4
8g.143916380T>GCA372474441PLECc.13573A>C (p.Ser4525Arg)
c.13492A>C (p.Ser4498Arg)
c.13159A>C (p.Ser4387Arg)
c.13372A>C (p.Ser4458Arg)
c.13441A>C (p.Ser4481Arg)
c.10141A>C (p.Ser3381Arg)
c.13852A>C (p.Ser4618Arg)
c.13375A>C (p.Ser4459Arg)
c.13399A>C (p.Ser4467Arg)
c.13453A>C (p.Ser4485Arg)
c.13345A>C (p.Ser4449Arg)
c.13522A>C (p.Ser4508Arg)
c.13510A>C (p.Ser4504Arg)
c.13867A>C (p.Ser4623Arg)
c.13468A>C (p.Ser4490Arg)
c.13456A>C (p.Ser4486Arg)
c.13414A>C (p.Ser4472Arg)
c.13390A>C (p.Ser4464Arg)
c.13360A>C (p.Ser4454Arg)
c.13537A>C (p.Ser4513Arg)
c.13387A>C (p.Ser4463Arg)
c.10087A>C (p.Ser3363Arg)
8g.143916381G>ACA463526318PLECc.13572C>T (p.Val4524=)
c.13491C>T (p.Val4497=)
c.13158C>T (p.Val4386=)
c.13371C>T (p.Val4457=)
c.13440C>T (p.Val4480=)
c.10140C>T (p.Val3380=)
c.13851C>T (p.Val4617=)
c.13374C>T (p.Val4458=)
c.13398C>T (p.Val4466=)
c.13452C>T (p.Val4484=)
c.13344C>T (p.Val4448=)
c.13521C>T (p.Val4507=)
c.13509C>T (p.Val4503=)
c.13866C>T (p.Val4622=)
c.13467C>T (p.Val4489=)
c.13455C>T (p.Val4485=)
c.13413C>T (p.Val4471=)
c.13389C>T (p.Val4463=)
c.13359C>T (p.Val4453=)
c.13536C>T (p.Val4512=)
c.13386C>T (p.Val4462=)
c.10086C>T (p.Val3362=)
 dbSNP gnomAD v4
8g.143916381G>CCA463526319PLECc.13572C>G (p.Val4524=)
c.13491C>G (p.Val4497=)
c.13158C>G (p.Val4386=)
c.13371C>G (p.Val4457=)
c.13440C>G (p.Val4480=)
c.10140C>G (p.Val3380=)
c.13851C>G (p.Val4617=)
c.13374C>G (p.Val4458=)
c.13398C>G (p.Val4466=)
c.13452C>G (p.Val4484=)
c.13344C>G (p.Val4448=)
c.13521C>G (p.Val4507=)
c.13509C>G (p.Val4503=)
c.13866C>G (p.Val4622=)
c.13467C>G (p.Val4489=)
c.13455C>G (p.Val4485=)
c.13413C>G (p.Val4471=)
c.13389C>G (p.Val4463=)
c.13359C>G (p.Val4453=)
c.13536C>G (p.Val4512=)
c.13386C>G (p.Val4462=)
c.10086C>G (p.Val3362=)
8g.143916381G=CA1826037080PLECc.13572C= (p.Val4524=)
c.13491C= (p.Val4497=)
c.13158C= (p.Val4386=)
c.13371C= (p.Val4457=)
c.13440C= (p.Val4480=)
c.10140C= (p.Val3380=)
c.13851C= (p.Val4617=)
c.13374C= (p.Val4458=)
c.13398C= (p.Val4466=)
c.13452C= (p.Val4484=)
c.13344C= (p.Val4448=)
c.13521C= (p.Val4507=)
c.13509C= (p.Val4503=)
c.13866C= (p.Val4622=)
c.13467C= (p.Val4489=)
c.13455C= (p.Val4485=)
c.13413C= (p.Val4471=)
c.13389C= (p.Val4463=)
c.13359C= (p.Val4453=)
c.13536C= (p.Val4512=)
c.13386C= (p.Val4462=)
c.10086C= (p.Val3362=)
8g.143916381G>TCA463526320PLECc.13572C>A (p.Val4524=)
c.13491C>A (p.Val4497=)
c.13158C>A (p.Val4386=)
c.13371C>A (p.Val4457=)
c.13440C>A (p.Val4480=)
c.10140C>A (p.Val3380=)
c.13851C>A (p.Val4617=)
c.13374C>A (p.Val4458=)
c.13398C>A (p.Val4466=)
c.13452C>A (p.Val4484=)
c.13344C>A (p.Val4448=)
c.13521C>A (p.Val4507=)
c.13509C>A (p.Val4503=)
c.13866C>A (p.Val4622=)
c.13467C>A (p.Val4489=)
c.13455C>A (p.Val4485=)
c.13413C>A (p.Val4471=)
c.13389C>A (p.Val4463=)
c.13359C>A (p.Val4453=)
c.13536C>A (p.Val4512=)
c.13386C>A (p.Val4462=)
c.10086C>A (p.Val3362=)
8g.143916382A=CA1826037081PLECc.13571T= (p.Val4524=)
c.13490T= (p.Val4497=)
c.13157T= (p.Val4386=)
c.13370T= (p.Val4457=)
c.13439T= (p.Val4480=)
c.10139T= (p.Val3380=)
c.13850T= (p.Val4617=)
c.13373T= (p.Val4458=)
c.13397T= (p.Val4466=)
c.13451T= (p.Val4484=)
c.13343T= (p.Val4448=)
c.13520T= (p.Val4507=)
c.13508T= (p.Val4503=)
c.13865T= (p.Val4622=)
c.13466T= (p.Val4489=)
c.13454T= (p.Val4485=)
c.13412T= (p.Val4471=)
c.13388T= (p.Val4463=)
c.13358T= (p.Val4453=)
c.13535T= (p.Val4512=)
c.13385T= (p.Val4462=)
c.10085T= (p.Val3362=)
8g.143916382A>CCA372474443PLECc.13571T>G (p.Val4524Gly)
c.13490T>G (p.Val4497Gly)
c.13157T>G (p.Val4386Gly)
c.13370T>G (p.Val4457Gly)
c.13439T>G (p.Val4480Gly)
c.10139T>G (p.Val3380Gly)
c.13850T>G (p.Val4617Gly)
c.13373T>G (p.Val4458Gly)
c.13397T>G (p.Val4466Gly)
c.13451T>G (p.Val4484Gly)
c.13343T>G (p.Val4448Gly)
c.13520T>G (p.Val4507Gly)
c.13508T>G (p.Val4503Gly)
c.13865T>G (p.Val4622Gly)
c.13466T>G (p.Val4489Gly)
c.13454T>G (p.Val4485Gly)
c.13412T>G (p.Val4471Gly)
c.13388T>G (p.Val4463Gly)
c.13358T>G (p.Val4453Gly)
c.13535T>G (p.Val4512Gly)
c.13385T>G (p.Val4462Gly)
c.10085T>G (p.Val3362Gly)
8g.143916382A>GCA372474445PLECc.13571T>C (p.Val4524Ala)
c.13490T>C (p.Val4497Ala)
c.13157T>C (p.Val4386Ala)
c.13370T>C (p.Val4457Ala)
c.13439T>C (p.Val4480Ala)
c.10139T>C (p.Val3380Ala)
c.13850T>C (p.Val4617Ala)
c.13373T>C (p.Val4458Ala)
c.13397T>C (p.Val4466Ala)
c.13451T>C (p.Val4484Ala)
c.13343T>C (p.Val4448Ala)
c.13520T>C (p.Val4507Ala)
c.13508T>C (p.Val4503Ala)
c.13865T>C (p.Val4622Ala)
c.13466T>C (p.Val4489Ala)
c.13454T>C (p.Val4485Ala)
c.13412T>C (p.Val4471Ala)
c.13388T>C (p.Val4463Ala)
c.13358T>C (p.Val4453Ala)
c.13535T>C (p.Val4512Ala)
c.13385T>C (p.Val4462Ala)
c.10085T>C (p.Val3362Ala)
 dbSNP gnomAD v4
8g.143916382A>TCA372474447PLECc.13571T>A (p.Val4524Asp)
c.13490T>A (p.Val4497Asp)
c.13157T>A (p.Val4386Asp)
c.13370T>A (p.Val4457Asp)
c.13439T>A (p.Val4480Asp)
c.10139T>A (p.Val3380Asp)
c.13850T>A (p.Val4617Asp)
c.13373T>A (p.Val4458Asp)
c.13397T>A (p.Val4466Asp)
c.13451T>A (p.Val4484Asp)
c.13343T>A (p.Val4448Asp)
c.13520T>A (p.Val4507Asp)
c.13508T>A (p.Val4503Asp)
c.13865T>A (p.Val4622Asp)
c.13466T>A (p.Val4489Asp)
c.13454T>A (p.Val4485Asp)
c.13412T>A (p.Val4471Asp)
c.13388T>A (p.Val4463Asp)
c.13358T>A (p.Val4453Asp)
c.13535T>A (p.Val4512Asp)
c.13385T>A (p.Val4462Asp)
c.10085T>A (p.Val3362Asp)
8g.143916383C>ACA372474451PLECc.13570G>T (p.Val4524Phe)
c.13489G>T (p.Val4497Phe)
c.13156G>T (p.Val4386Phe)
c.13369G>T (p.Val4457Phe)
c.13438G>T (p.Val4480Phe)
c.10138G>T (p.Val3380Phe)
c.13849G>T (p.Val4617Phe)
c.13372G>T (p.Val4458Phe)
c.13396G>T (p.Val4466Phe)
c.13450G>T (p.Val4484Phe)
c.13342G>T (p.Val4448Phe)
c.13519G>T (p.Val4507Phe)
c.13507G>T (p.Val4503Phe)
c.13864G>T (p.Val4622Phe)
c.13465G>T (p.Val4489Phe)
c.13453G>T (p.Val4485Phe)
c.13411G>T (p.Val4471Phe)
c.13387G>T (p.Val4463Phe)
c.13357G>T (p.Val4453Phe)
c.13534G>T (p.Val4512Phe)
c.13384G>T (p.Val4462Phe)
c.10084G>T (p.Val3362Phe)
 dbSNP gnomAD v3 gnomAD v4
8g.143916383C=CA1826037083PLECc.13570G= (p.Val4524=)
c.13489G= (p.Val4497=)
c.13156G= (p.Val4386=)
c.13369G= (p.Val4457=)
c.13438G= (p.Val4480=)
c.10138G= (p.Val3380=)
c.13849G= (p.Val4617=)
c.13372G= (p.Val4458=)
c.13396G= (p.Val4466=)
c.13450G= (p.Val4484=)
c.13342G= (p.Val4448=)
c.13519G= (p.Val4507=)
c.13507G= (p.Val4503=)
c.13864G= (p.Val4622=)
c.13465G= (p.Val4489=)
c.13453G= (p.Val4485=)
c.13411G= (p.Val4471=)
c.13387G= (p.Val4463=)
c.13357G= (p.Val4453=)
c.13534G= (p.Val4512=)
c.13384G= (p.Val4462=)
c.10084G= (p.Val3362=)
8g.143916383C>GCA372474450PLECc.13570G>C (p.Val4524Leu)
c.13489G>C (p.Val4497Leu)
c.13156G>C (p.Val4386Leu)
c.13369G>C (p.Val4457Leu)
c.13438G>C (p.Val4480Leu)
c.10138G>C (p.Val3380Leu)
c.13849G>C (p.Val4617Leu)
c.13372G>C (p.Val4458Leu)
c.13396G>C (p.Val4466Leu)
c.13450G>C (p.Val4484Leu)
c.13342G>C (p.Val4448Leu)
c.13519G>C (p.Val4507Leu)
c.13507G>C (p.Val4503Leu)
c.13864G>C (p.Val4622Leu)
c.13465G>C (p.Val4489Leu)
c.13453G>C (p.Val4485Leu)
c.13411G>C (p.Val4471Leu)
c.13387G>C (p.Val4463Leu)
c.13357G>C (p.Val4453Leu)
c.13534G>C (p.Val4512Leu)
c.13384G>C (p.Val4462Leu)
c.10084G>C (p.Val3362Leu)
8g.143916383C>TCA187606085PLECc.13570G>A (p.Val4524Ile)
c.13489G>A (p.Val4497Ile)
c.13156G>A (p.Val4386Ile)
c.13369G>A (p.Val4457Ile)
c.13438G>A (p.Val4480Ile)
c.10138G>A (p.Val3380Ile)
c.13849G>A (p.Val4617Ile)
c.13372G>A (p.Val4458Ile)
c.13396G>A (p.Val4466Ile)
c.13450G>A (p.Val4484Ile)
c.13342G>A (p.Val4448Ile)
c.13519G>A (p.Val4507Ile)
c.13507G>A (p.Val4503Ile)
c.13864G>A (p.Val4622Ile)
c.13465G>A (p.Val4489Ile)
c.13453G>A (p.Val4485Ile)
c.13411G>A (p.Val4471Ile)
c.13387G>A (p.Val4463Ile)
c.13357G>A (p.Val4453Ile)
c.13534G>A (p.Val4512Ile)
c.13384G>A (p.Val4462Ile)
c.10084G>A (p.Val3362Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143916384G>ACA4923809PLECc.13569C>T (p.Ser4523=)
c.13488C>T (p.Ser4496=)
c.13155C>T (p.Ser4385=)
c.13368C>T (p.Ser4456=)
c.13437C>T (p.Ser4479=)
c.10137C>T (p.Ser3379=)
c.13848C>T (p.Ser4616=)
c.13371C>T (p.Ser4457=)
c.13395C>T (p.Ser4465=)
c.13449C>T (p.Ser4483=)
c.13341C>T (p.Ser4447=)
c.13518C>T (p.Ser4506=)
c.13506C>T (p.Ser4502=)
c.13863C>T (p.Ser4621=)
c.13464C>T (p.Ser4488=)
c.13452C>T (p.Ser4484=)
c.13410C>T (p.Ser4470=)
c.13386C>T (p.Ser4462=)
c.13356C>T (p.Ser4452=)
c.13533C>T (p.Ser4511=)
c.13383C>T (p.Ser4461=)
c.10083C>T (p.Ser3361=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916384G>CCA372474454PLECc.13569C>G (p.Ser4523Arg)
c.13488C>G (p.Ser4496Arg)
c.13155C>G (p.Ser4385Arg)
c.13368C>G (p.Ser4456Arg)
c.13437C>G (p.Ser4479Arg)
c.10137C>G (p.Ser3379Arg)
c.13848C>G (p.Ser4616Arg)
c.13371C>G (p.Ser4457Arg)
c.13395C>G (p.Ser4465Arg)
c.13449C>G (p.Ser4483Arg)
c.13341C>G (p.Ser4447Arg)
c.13518C>G (p.Ser4506Arg)
c.13506C>G (p.Ser4502Arg)
c.13863C>G (p.Ser4621Arg)
c.13464C>G (p.Ser4488Arg)
c.13452C>G (p.Ser4484Arg)
c.13410C>G (p.Ser4470Arg)
c.13386C>G (p.Ser4462Arg)
c.13356C>G (p.Ser4452Arg)
c.13533C>G (p.Ser4511Arg)
c.13383C>G (p.Ser4461Arg)
c.10083C>G (p.Ser3361Arg)
8g.143916384G=CA1826037087PLECc.13569C= (p.Ser4523=)
c.13488C= (p.Ser4496=)
c.13155C= (p.Ser4385=)
c.13368C= (p.Ser4456=)
c.13437C= (p.Ser4479=)
c.10137C= (p.Ser3379=)
c.13848C= (p.Ser4616=)
c.13371C= (p.Ser4457=)
c.13395C= (p.Ser4465=)
c.13449C= (p.Ser4483=)
c.13341C= (p.Ser4447=)
c.13518C= (p.Ser4506=)
c.13506C= (p.Ser4502=)
c.13863C= (p.Ser4621=)
c.13464C= (p.Ser4488=)
c.13452C= (p.Ser4484=)
c.13410C= (p.Ser4470=)
c.13386C= (p.Ser4462=)
c.13356C= (p.Ser4452=)
c.13533C= (p.Ser4511=)
c.13383C= (p.Ser4461=)
c.10083C= (p.Ser3361=)
8g.143916384G>TCA372474456PLECc.13569C>A (p.Ser4523Arg)
c.13488C>A (p.Ser4496Arg)
c.13155C>A (p.Ser4385Arg)
c.13368C>A (p.Ser4456Arg)
c.13437C>A (p.Ser4479Arg)
c.10137C>A (p.Ser3379Arg)
c.13848C>A (p.Ser4616Arg)
c.13371C>A (p.Ser4457Arg)
c.13395C>A (p.Ser4465Arg)
c.13449C>A (p.Ser4483Arg)
c.13341C>A (p.Ser4447Arg)
c.13518C>A (p.Ser4506Arg)
c.13506C>A (p.Ser4502Arg)
c.13863C>A (p.Ser4621Arg)
c.13464C>A (p.Ser4488Arg)
c.13452C>A (p.Ser4484Arg)
c.13410C>A (p.Ser4470Arg)
c.13386C>A (p.Ser4462Arg)
c.13356C>A (p.Ser4452Arg)
c.13533C>A (p.Ser4511Arg)
c.13383C>A (p.Ser4461Arg)
c.10083C>A (p.Ser3361Arg)
 gnomAD v4
8g.143916385C>ACA372474458PLECc.13568G>T (p.Ser4523Ile)
c.13487G>T (p.Ser4496Ile)
c.13154G>T (p.Ser4385Ile)
c.13367G>T (p.Ser4456Ile)
c.13436G>T (p.Ser4479Ile)
c.10136G>T (p.Ser3379Ile)
c.13847G>T (p.Ser4616Ile)
c.13370G>T (p.Ser4457Ile)
c.13394G>T (p.Ser4465Ile)
c.13448G>T (p.Ser4483Ile)
c.13340G>T (p.Ser4447Ile)
c.13517G>T (p.Ser4506Ile)
c.13505G>T (p.Ser4502Ile)
c.13862G>T (p.Ser4621Ile)
c.13463G>T (p.Ser4488Ile)
c.13451G>T (p.Ser4484Ile)
c.13409G>T (p.Ser4470Ile)
c.13385G>T (p.Ser4462Ile)
c.13355G>T (p.Ser4452Ile)
c.13532G>T (p.Ser4511Ile)
c.13382G>T (p.Ser4461Ile)
c.10082G>T (p.Ser3361Ile)
8g.143916385C>GCA372474460PLECc.13568G>C (p.Ser4523Thr)
c.13487G>C (p.Ser4496Thr)
c.13154G>C (p.Ser4385Thr)
c.13367G>C (p.Ser4456Thr)
c.13436G>C (p.Ser4479Thr)
c.10136G>C (p.Ser3379Thr)
c.13847G>C (p.Ser4616Thr)
c.13370G>C (p.Ser4457Thr)
c.13394G>C (p.Ser4465Thr)
c.13448G>C (p.Ser4483Thr)
c.13340G>C (p.Ser4447Thr)
c.13517G>C (p.Ser4506Thr)
c.13505G>C (p.Ser4502Thr)
c.13862G>C (p.Ser4621Thr)
c.13463G>C (p.Ser4488Thr)
c.13451G>C (p.Ser4484Thr)
c.13409G>C (p.Ser4470Thr)
c.13385G>C (p.Ser4462Thr)
c.13355G>C (p.Ser4452Thr)
c.13532G>C (p.Ser4511Thr)
c.13382G>C (p.Ser4461Thr)
c.10082G>C (p.Ser3361Thr)
8g.143916385C>TCA372474461PLECc.13568G>A (p.Ser4523Asn)
c.13487G>A (p.Ser4496Asn)
c.13154G>A (p.Ser4385Asn)
c.13367G>A (p.Ser4456Asn)
c.13436G>A (p.Ser4479Asn)
c.10136G>A (p.Ser3379Asn)
c.13847G>A (p.Ser4616Asn)
c.13370G>A (p.Ser4457Asn)
c.13394G>A (p.Ser4465Asn)
c.13448G>A (p.Ser4483Asn)
c.13340G>A (p.Ser4447Asn)
c.13517G>A (p.Ser4506Asn)
c.13505G>A (p.Ser4502Asn)
c.13862G>A (p.Ser4621Asn)
c.13463G>A (p.Ser4488Asn)
c.13451G>A (p.Ser4484Asn)
c.13409G>A (p.Ser4470Asn)
c.13385G>A (p.Ser4462Asn)
c.13355G>A (p.Ser4452Asn)
c.13532G>A (p.Ser4511Asn)
c.13382G>A (p.Ser4461Asn)
c.10082G>A (p.Ser3361Asn)
8g.143916386T>ACA187606089PLECc.13567A>T (p.Ser4523Cys)
c.13486A>T (p.Ser4496Cys)
c.13153A>T (p.Ser4385Cys)
c.13366A>T (p.Ser4456Cys)
c.13435A>T (p.Ser4479Cys)
c.10135A>T (p.Ser3379Cys)
c.13846A>T (p.Ser4616Cys)
c.13369A>T (p.Ser4457Cys)
c.13393A>T (p.Ser4465Cys)
c.13447A>T (p.Ser4483Cys)
c.13339A>T (p.Ser4447Cys)
c.13516A>T (p.Ser4506Cys)
c.13504A>T (p.Ser4502Cys)
c.13861A>T (p.Ser4621Cys)
c.13462A>T (p.Ser4488Cys)
c.13450A>T (p.Ser4484Cys)
c.13408A>T (p.Ser4470Cys)
c.13384A>T (p.Ser4462Cys)
c.13354A>T (p.Ser4452Cys)
c.13531A>T (p.Ser4511Cys)
c.13381A>T (p.Ser4461Cys)
c.10081A>T (p.Ser3361Cys)
 dbSNP gnomAD v4
8g.143916386T>CCA372474463PLECc.13567A>G (p.Ser4523Gly)
c.13486A>G (p.Ser4496Gly)
c.13153A>G (p.Ser4385Gly)
c.13366A>G (p.Ser4456Gly)
c.13435A>G (p.Ser4479Gly)
c.10135A>G (p.Ser3379Gly)
c.13846A>G (p.Ser4616Gly)
c.13369A>G (p.Ser4457Gly)
c.13393A>G (p.Ser4465Gly)
c.13447A>G (p.Ser4483Gly)
c.13339A>G (p.Ser4447Gly)
c.13516A>G (p.Ser4506Gly)
c.13504A>G (p.Ser4502Gly)
c.13861A>G (p.Ser4621Gly)
c.13462A>G (p.Ser4488Gly)
c.13450A>G (p.Ser4484Gly)
c.13408A>G (p.Ser4470Gly)
c.13384A>G (p.Ser4462Gly)
c.13354A>G (p.Ser4452Gly)
c.13531A>G (p.Ser4511Gly)
c.13381A>G (p.Ser4461Gly)
c.10081A>G (p.Ser3361Gly)
 gnomAD v4
8g.143916386T>GCA372474466PLECc.13567A>C (p.Ser4523Arg)
c.13486A>C (p.Ser4496Arg)
c.13153A>C (p.Ser4385Arg)
c.13366A>C (p.Ser4456Arg)
c.13435A>C (p.Ser4479Arg)
c.10135A>C (p.Ser3379Arg)
c.13846A>C (p.Ser4616Arg)
c.13369A>C (p.Ser4457Arg)
c.13393A>C (p.Ser4465Arg)
c.13447A>C (p.Ser4483Arg)
c.13339A>C (p.Ser4447Arg)
c.13516A>C (p.Ser4506Arg)
c.13504A>C (p.Ser4502Arg)
c.13861A>C (p.Ser4621Arg)
c.13462A>C (p.Ser4488Arg)
c.13450A>C (p.Ser4484Arg)
c.13408A>C (p.Ser4470Arg)
c.13384A>C (p.Ser4462Arg)
c.13354A>C (p.Ser4452Arg)
c.13531A>C (p.Ser4511Arg)
c.13381A>C (p.Ser4461Arg)
c.10081A>C (p.Ser3361Arg)
8g.143916386T=CA1826037089PLECc.13567A= (p.Ser4523=)
c.13486A= (p.Ser4496=)
c.13153A= (p.Ser4385=)
c.13366A= (p.Ser4456=)
c.13435A= (p.Ser4479=)
c.10135A= (p.Ser3379=)
c.13846A= (p.Ser4616=)
c.13369A= (p.Ser4457=)
c.13393A= (p.Ser4465=)
c.13447A= (p.Ser4483=)
c.13339A= (p.Ser4447=)
c.13516A= (p.Ser4506=)
c.13504A= (p.Ser4502=)
c.13861A= (p.Ser4621=)
c.13462A= (p.Ser4488=)
c.13450A= (p.Ser4484=)
c.13408A= (p.Ser4470=)
c.13384A= (p.Ser4462=)
c.13354A= (p.Ser4452=)
c.13531A= (p.Ser4511=)
c.13381A= (p.Ser4461=)
c.10081A= (p.Ser3361=)
8g.143916387G>ACA463526334PLECc.13566C>T (p.Tyr4522=)
c.13485C>T (p.Tyr4495=)
c.13152C>T (p.Tyr4384=)
c.13365C>T (p.Tyr4455=)
c.13434C>T (p.Tyr4478=)
c.10134C>T (p.Tyr3378=)
c.13845C>T (p.Tyr4615=)
c.13368C>T (p.Tyr4456=)
c.13392C>T (p.Tyr4464=)
c.13446C>T (p.Tyr4482=)
c.13338C>T (p.Tyr4446=)
c.13515C>T (p.Tyr4505=)
c.13503C>T (p.Tyr4501=)
c.13860C>T (p.Tyr4620=)
c.13461C>T (p.Tyr4487=)
c.13449C>T (p.Tyr4483=)
c.13407C>T (p.Tyr4469=)
c.13383C>T (p.Tyr4461=)
c.13353C>T (p.Tyr4451=)
c.13530C>T (p.Tyr4510=)
c.13380C>T (p.Tyr4460=)
c.10080C>T (p.Tyr3360=)
 gnomAD v4
8g.143916387G>CCA372474469PLECc.13566C>G (p.Tyr4522Ter)
c.13485C>G (p.Tyr4495Ter)
c.13152C>G (p.Tyr4384Ter)
c.13365C>G (p.Tyr4455Ter)
c.13434C>G (p.Tyr4478Ter)
c.10134C>G (p.Tyr3378Ter)
c.13845C>G (p.Tyr4615Ter)
c.13368C>G (p.Tyr4456Ter)
c.13392C>G (p.Tyr4464Ter)
c.13446C>G (p.Tyr4482Ter)
c.13338C>G (p.Tyr4446Ter)
c.13515C>G (p.Tyr4505Ter)
c.13503C>G (p.Tyr4501Ter)
c.13860C>G (p.Tyr4620Ter)
c.13461C>G (p.Tyr4487Ter)
c.13449C>G (p.Tyr4483Ter)
c.13407C>G (p.Tyr4469Ter)
c.13383C>G (p.Tyr4461Ter)
c.13353C>G (p.Tyr4451Ter)
c.13530C>G (p.Tyr4510Ter)
c.13380C>G (p.Tyr4460Ter)
c.10080C>G (p.Tyr3360Ter)
8g.143916387G>TCA372474471PLECc.13566C>A (p.Tyr4522Ter)
c.13485C>A (p.Tyr4495Ter)
c.13152C>A (p.Tyr4384Ter)
c.13365C>A (p.Tyr4455Ter)
c.13434C>A (p.Tyr4478Ter)
c.10134C>A (p.Tyr3378Ter)
c.13845C>A (p.Tyr4615Ter)
c.13368C>A (p.Tyr4456Ter)
c.13392C>A (p.Tyr4464Ter)
c.13446C>A (p.Tyr4482Ter)
c.13338C>A (p.Tyr4446Ter)
c.13515C>A (p.Tyr4505Ter)
c.13503C>A (p.Tyr4501Ter)
c.13860C>A (p.Tyr4620Ter)
c.13461C>A (p.Tyr4487Ter)
c.13449C>A (p.Tyr4483Ter)
c.13407C>A (p.Tyr4469Ter)
c.13383C>A (p.Tyr4461Ter)
c.13353C>A (p.Tyr4451Ter)
c.13530C>A (p.Tyr4510Ter)
c.13380C>A (p.Tyr4460Ter)
c.10080C>A (p.Tyr3360Ter)
8g.143916388T>ACA372474473PLECc.13565A>T (p.Tyr4522Phe)
c.13484A>T (p.Tyr4495Phe)
c.13151A>T (p.Tyr4384Phe)
c.13364A>T (p.Tyr4455Phe)
c.13433A>T (p.Tyr4478Phe)
c.10133A>T (p.Tyr3378Phe)
c.13844A>T (p.Tyr4615Phe)
c.13367A>T (p.Tyr4456Phe)
c.13391A>T (p.Tyr4464Phe)
c.13445A>T (p.Tyr4482Phe)
c.13337A>T (p.Tyr4446Phe)
c.13514A>T (p.Tyr4505Phe)
c.13502A>T (p.Tyr4501Phe)
c.13859A>T (p.Tyr4620Phe)
c.13460A>T (p.Tyr4487Phe)
c.13448A>T (p.Tyr4483Phe)
c.13406A>T (p.Tyr4469Phe)
c.13382A>T (p.Tyr4461Phe)
c.13352A>T (p.Tyr4451Phe)
c.13529A>T (p.Tyr4510Phe)
c.13379A>T (p.Tyr4460Phe)
c.10079A>T (p.Tyr3360Phe)
8g.143916388T>CCA372474475PLECc.13565A>G (p.Tyr4522Cys)
c.13484A>G (p.Tyr4495Cys)
c.13151A>G (p.Tyr4384Cys)
c.13364A>G (p.Tyr4455Cys)
c.13433A>G (p.Tyr4478Cys)
c.10133A>G (p.Tyr3378Cys)
c.13844A>G (p.Tyr4615Cys)
c.13367A>G (p.Tyr4456Cys)
c.13391A>G (p.Tyr4464Cys)
c.13445A>G (p.Tyr4482Cys)
c.13337A>G (p.Tyr4446Cys)
c.13514A>G (p.Tyr4505Cys)
c.13502A>G (p.Tyr4501Cys)
c.13859A>G (p.Tyr4620Cys)
c.13460A>G (p.Tyr4487Cys)
c.13448A>G (p.Tyr4483Cys)
c.13406A>G (p.Tyr4469Cys)
c.13382A>G (p.Tyr4461Cys)
c.13352A>G (p.Tyr4451Cys)
c.13529A>G (p.Tyr4510Cys)
c.13379A>G (p.Tyr4460Cys)
c.10079A>G (p.Tyr3360Cys)
 gnomAD v4
8g.143916388T>GCA372474477PLECc.13565A>C (p.Tyr4522Ser)
c.13484A>C (p.Tyr4495Ser)
c.13151A>C (p.Tyr4384Ser)
c.13364A>C (p.Tyr4455Ser)
c.13433A>C (p.Tyr4478Ser)
c.10133A>C (p.Tyr3378Ser)
c.13844A>C (p.Tyr4615Ser)
c.13367A>C (p.Tyr4456Ser)
c.13391A>C (p.Tyr4464Ser)
c.13445A>C (p.Tyr4482Ser)
c.13337A>C (p.Tyr4446Ser)
c.13514A>C (p.Tyr4505Ser)
c.13502A>C (p.Tyr4501Ser)
c.13859A>C (p.Tyr4620Ser)
c.13460A>C (p.Tyr4487Ser)
c.13448A>C (p.Tyr4483Ser)
c.13406A>C (p.Tyr4469Ser)
c.13382A>C (p.Tyr4461Ser)
c.13352A>C (p.Tyr4451Ser)
c.13529A>C (p.Tyr4510Ser)
c.13379A>C (p.Tyr4460Ser)
c.10079A>C (p.Tyr3360Ser)
8g.143916389A>CCA372474479PLECc.13564T>G (p.Tyr4522Asp)
c.13483T>G (p.Tyr4495Asp)
c.13150T>G (p.Tyr4384Asp)
c.13363T>G (p.Tyr4455Asp)
c.13432T>G (p.Tyr4478Asp)
c.10132T>G (p.Tyr3378Asp)
c.13843T>G (p.Tyr4615Asp)
c.13366T>G (p.Tyr4456Asp)
c.13390T>G (p.Tyr4464Asp)
c.13444T>G (p.Tyr4482Asp)
c.13336T>G (p.Tyr4446Asp)
c.13513T>G (p.Tyr4505Asp)
c.13501T>G (p.Tyr4501Asp)
c.13858T>G (p.Tyr4620Asp)
c.13459T>G (p.Tyr4487Asp)
c.13447T>G (p.Tyr4483Asp)
c.13405T>G (p.Tyr4469Asp)
c.13381T>G (p.Tyr4461Asp)
c.13351T>G (p.Tyr4451Asp)
c.13528T>G (p.Tyr4510Asp)
c.13378T>G (p.Tyr4460Asp)
c.10078T>G (p.Tyr3360Asp)
8g.143916389A>GCA372474482PLECc.13564T>C (p.Tyr4522His)
c.13483T>C (p.Tyr4495His)
c.13150T>C (p.Tyr4384His)
c.13363T>C (p.Tyr4455His)
c.13432T>C (p.Tyr4478His)
c.10132T>C (p.Tyr3378His)
c.13843T>C (p.Tyr4615His)
c.13366T>C (p.Tyr4456His)
c.13390T>C (p.Tyr4464His)
c.13444T>C (p.Tyr4482His)
c.13336T>C (p.Tyr4446His)
c.13513T>C (p.Tyr4505His)
c.13501T>C (p.Tyr4501His)
c.13858T>C (p.Tyr4620His)
c.13459T>C (p.Tyr4487His)
c.13447T>C (p.Tyr4483His)
c.13405T>C (p.Tyr4469His)
c.13381T>C (p.Tyr4461His)
c.13351T>C (p.Tyr4451His)
c.13528T>C (p.Tyr4510His)
c.13378T>C (p.Tyr4460His)
c.10078T>C (p.Tyr3360His)
8g.143916389A>TCA372474480PLECc.13564T>A (p.Tyr4522Asn)
c.13483T>A (p.Tyr4495Asn)
c.13150T>A (p.Tyr4384Asn)
c.13363T>A (p.Tyr4455Asn)
c.13432T>A (p.Tyr4478Asn)
c.10132T>A (p.Tyr3378Asn)
c.13843T>A (p.Tyr4615Asn)
c.13366T>A (p.Tyr4456Asn)
c.13390T>A (p.Tyr4464Asn)
c.13444T>A (p.Tyr4482Asn)
c.13336T>A (p.Tyr4446Asn)
c.13513T>A (p.Tyr4505Asn)
c.13501T>A (p.Tyr4501Asn)
c.13858T>A (p.Tyr4620Asn)
c.13459T>A (p.Tyr4487Asn)
c.13447T>A (p.Tyr4483Asn)
c.13405T>A (p.Tyr4469Asn)
c.13381T>A (p.Tyr4461Asn)
c.13351T>A (p.Tyr4451Asn)
c.13528T>A (p.Tyr4510Asn)
c.13378T>A (p.Tyr4460Asn)
c.10078T>A (p.Tyr3360Asn)
8g.143916390G>ACA463526344PLECc.13563C>T (p.Pro4521=)
c.13482C>T (p.Pro4494=)
c.13149C>T (p.Pro4383=)
c.13362C>T (p.Pro4454=)
c.13431C>T (p.Pro4477=)
c.10131C>T (p.Pro3377=)
c.13842C>T (p.Pro4614=)
c.13365C>T (p.Pro4455=)
c.13389C>T (p.Pro4463=)
c.13443C>T (p.Pro4481=)
c.13335C>T (p.Pro4445=)
c.13512C>T (p.Pro4504=)
c.13500C>T (p.Pro4500=)
c.13857C>T (p.Pro4619=)
c.13458C>T (p.Pro4486=)
c.13446C>T (p.Pro4482=)
c.13404C>T (p.Pro4468=)
c.13380C>T (p.Pro4460=)
c.13350C>T (p.Pro4450=)
c.13527C>T (p.Pro4509=)
c.13377C>T (p.Pro4459=)
c.10077C>T (p.Pro3359=)
 dbSNP gnomAD v4
8g.143916390G>CCA463526345PLECc.13563C>G (p.Pro4521=)
c.13482C>G (p.Pro4494=)
c.13149C>G (p.Pro4383=)
c.13362C>G (p.Pro4454=)
c.13431C>G (p.Pro4477=)
c.10131C>G (p.Pro3377=)
c.13842C>G (p.Pro4614=)
c.13365C>G (p.Pro4455=)
c.13389C>G (p.Pro4463=)
c.13443C>G (p.Pro4481=)
c.13335C>G (p.Pro4445=)
c.13512C>G (p.Pro4504=)
c.13500C>G (p.Pro4500=)
c.13857C>G (p.Pro4619=)
c.13458C>G (p.Pro4486=)
c.13446C>G (p.Pro4482=)
c.13404C>G (p.Pro4468=)
c.13380C>G (p.Pro4460=)
c.13350C>G (p.Pro4450=)
c.13527C>G (p.Pro4509=)
c.13377C>G (p.Pro4459=)
c.10077C>G (p.Pro3359=)
 ClinVar gnomAD v4
8g.143916390G=CA1826037091PLECc.13563C= (p.Pro4521=)
c.13482C= (p.Pro4494=)
c.13149C= (p.Pro4383=)
c.13362C= (p.Pro4454=)
c.13431C= (p.Pro4477=)
c.10131C= (p.Pro3377=)
c.13842C= (p.Pro4614=)
c.13365C= (p.Pro4455=)
c.13389C= (p.Pro4463=)
c.13443C= (p.Pro4481=)
c.13335C= (p.Pro4445=)
c.13512C= (p.Pro4504=)
c.13500C= (p.Pro4500=)
c.13857C= (p.Pro4619=)
c.13458C= (p.Pro4486=)
c.13446C= (p.Pro4482=)
c.13404C= (p.Pro4468=)
c.13380C= (p.Pro4460=)
c.13350C= (p.Pro4450=)
c.13527C= (p.Pro4509=)
c.13377C= (p.Pro4459=)
c.10077C= (p.Pro3359=)
8g.143916390G>TCA463526346PLECc.13563C>A (p.Pro4521=)
c.13482C>A (p.Pro4494=)
c.13149C>A (p.Pro4383=)
c.13362C>A (p.Pro4454=)
c.13431C>A (p.Pro4477=)
c.10131C>A (p.Pro3377=)
c.13842C>A (p.Pro4614=)
c.13365C>A (p.Pro4455=)
c.13389C>A (p.Pro4463=)
c.13443C>A (p.Pro4481=)
c.13335C>A (p.Pro4445=)
c.13512C>A (p.Pro4504=)
c.13500C>A (p.Pro4500=)
c.13857C>A (p.Pro4619=)
c.13458C>A (p.Pro4486=)
c.13446C>A (p.Pro4482=)
c.13404C>A (p.Pro4468=)
c.13380C>A (p.Pro4460=)
c.13350C>A (p.Pro4450=)
c.13527C>A (p.Pro4509=)
c.13377C>A (p.Pro4459=)
c.10077C>A (p.Pro3359=)
 gnomAD v4
8g.143916391G>ACA372474483PLECc.13562C>T (p.Pro4521Leu)
c.13481C>T (p.Pro4494Leu)
c.13148C>T (p.Pro4383Leu)
c.13361C>T (p.Pro4454Leu)
c.13430C>T (p.Pro4477Leu)
c.10130C>T (p.Pro3377Leu)
c.13841C>T (p.Pro4614Leu)
c.13364C>T (p.Pro4455Leu)
c.13388C>T (p.Pro4463Leu)
c.13442C>T (p.Pro4481Leu)
c.13334C>T (p.Pro4445Leu)
c.13511C>T (p.Pro4504Leu)
c.13499C>T (p.Pro4500Leu)
c.13856C>T (p.Pro4619Leu)
c.13457C>T (p.Pro4486Leu)
c.13445C>T (p.Pro4482Leu)
c.13403C>T (p.Pro4468Leu)
c.13379C>T (p.Pro4460Leu)
c.13349C>T (p.Pro4450Leu)
c.13526C>T (p.Pro4509Leu)
c.13376C>T (p.Pro4459Leu)
c.10076C>T (p.Pro3359Leu)
8g.143916391G>CCA372474485PLECc.13562C>G (p.Pro4521Arg)
c.13481C>G (p.Pro4494Arg)
c.13148C>G (p.Pro4383Arg)
c.13361C>G (p.Pro4454Arg)
c.13430C>G (p.Pro4477Arg)
c.10130C>G (p.Pro3377Arg)
c.13841C>G (p.Pro4614Arg)
c.13364C>G (p.Pro4455Arg)
c.13388C>G (p.Pro4463Arg)
c.13442C>G (p.Pro4481Arg)
c.13334C>G (p.Pro4445Arg)
c.13511C>G (p.Pro4504Arg)
c.13499C>G (p.Pro4500Arg)
c.13856C>G (p.Pro4619Arg)
c.13457C>G (p.Pro4486Arg)
c.13445C>G (p.Pro4482Arg)
c.13403C>G (p.Pro4468Arg)
c.13379C>G (p.Pro4460Arg)
c.13349C>G (p.Pro4450Arg)
c.13526C>G (p.Pro4509Arg)
c.13376C>G (p.Pro4459Arg)
c.10076C>G (p.Pro3359Arg)
8g.143916391G>TCA372474486PLECc.13562C>A (p.Pro4521His)
c.13481C>A (p.Pro4494His)
c.13148C>A (p.Pro4383His)
c.13361C>A (p.Pro4454His)
c.13430C>A (p.Pro4477His)
c.10130C>A (p.Pro3377His)
c.13841C>A (p.Pro4614His)
c.13364C>A (p.Pro4455His)
c.13388C>A (p.Pro4463His)
c.13442C>A (p.Pro4481His)
c.13334C>A (p.Pro4445His)
c.13511C>A (p.Pro4504His)
c.13499C>A (p.Pro4500His)
c.13856C>A (p.Pro4619His)
c.13457C>A (p.Pro4486His)
c.13445C>A (p.Pro4482His)
c.13403C>A (p.Pro4468His)
c.13379C>A (p.Pro4460His)
c.13349C>A (p.Pro4450His)
c.13526C>A (p.Pro4509His)
c.13376C>A (p.Pro4459His)
c.10076C>A (p.Pro3359His)
 gnomAD v4
8g.143916392G>ACA372474489PLECc.13561C>T (p.Pro4521Ser)
c.13480C>T (p.Pro4494Ser)
c.13147C>T (p.Pro4383Ser)
c.13360C>T (p.Pro4454Ser)
c.13429C>T (p.Pro4477Ser)
c.10129C>T (p.Pro3377Ser)
c.13840C>T (p.Pro4614Ser)
c.13363C>T (p.Pro4455Ser)
c.13387C>T (p.Pro4463Ser)
c.13441C>T (p.Pro4481Ser)
c.13333C>T (p.Pro4445Ser)
c.13510C>T (p.Pro4504Ser)
c.13498C>T (p.Pro4500Ser)
c.13855C>T (p.Pro4619Ser)
c.13456C>T (p.Pro4486Ser)
c.13444C>T (p.Pro4482Ser)
c.13402C>T (p.Pro4468Ser)
c.13378C>T (p.Pro4460Ser)
c.13348C>T (p.Pro4450Ser)
c.13525C>T (p.Pro4509Ser)
c.13375C>T (p.Pro4459Ser)
c.10075C>T (p.Pro3359Ser)
 COSMIC
8g.143916392G>CCA372474491PLECc.13561C>G (p.Pro4521Ala)
c.13480C>G (p.Pro4494Ala)
c.13147C>G (p.Pro4383Ala)
c.13360C>G (p.Pro4454Ala)
c.13429C>G (p.Pro4477Ala)
c.10129C>G (p.Pro3377Ala)
c.13840C>G (p.Pro4614Ala)
c.13363C>G (p.Pro4455Ala)
c.13387C>G (p.Pro4463Ala)
c.13441C>G (p.Pro4481Ala)
c.13333C>G (p.Pro4445Ala)
c.13510C>G (p.Pro4504Ala)
c.13498C>G (p.Pro4500Ala)
c.13855C>G (p.Pro4619Ala)
c.13456C>G (p.Pro4486Ala)
c.13444C>G (p.Pro4482Ala)
c.13402C>G (p.Pro4468Ala)
c.13378C>G (p.Pro4460Ala)
c.13348C>G (p.Pro4450Ala)
c.13525C>G (p.Pro4509Ala)
c.13375C>G (p.Pro4459Ala)
c.10075C>G (p.Pro3359Ala)
8g.143916392G>TCA372474492PLECc.13561C>A (p.Pro4521Thr)
c.13480C>A (p.Pro4494Thr)
c.13147C>A (p.Pro4383Thr)
c.13360C>A (p.Pro4454Thr)
c.13429C>A (p.Pro4477Thr)
c.10129C>A (p.Pro3377Thr)
c.13840C>A (p.Pro4614Thr)
c.13363C>A (p.Pro4455Thr)
c.13387C>A (p.Pro4463Thr)
c.13441C>A (p.Pro4481Thr)
c.13333C>A (p.Pro4445Thr)
c.13510C>A (p.Pro4504Thr)
c.13498C>A (p.Pro4500Thr)
c.13855C>A (p.Pro4619Thr)
c.13456C>A (p.Pro4486Thr)
c.13444C>A (p.Pro4482Thr)
c.13402C>A (p.Pro4468Thr)
c.13378C>A (p.Pro4460Thr)
c.13348C>A (p.Pro4450Thr)
c.13525C>A (p.Pro4509Thr)
c.13375C>A (p.Pro4459Thr)
c.10075C>A (p.Pro3359Thr)
8g.143916393G>ACA4923810PLECc.13560C>T (p.Ser4520=)
c.13479C>T (p.Ser4493=)
c.13146C>T (p.Ser4382=)
c.13359C>T (p.Ser4453=)
c.13428C>T (p.Ser4476=)
c.10128C>T (p.Ser3376=)
c.13839C>T (p.Ser4613=)
c.13362C>T (p.Ser4454=)
c.13386C>T (p.Ser4462=)
c.13440C>T (p.Ser4480=)
c.13332C>T (p.Ser4444=)
c.13509C>T (p.Ser4503=)
c.13497C>T (p.Ser4499=)
c.13854C>T (p.Ser4618=)
c.13455C>T (p.Ser4485=)
c.13443C>T (p.Ser4481=)
c.13401C>T (p.Ser4467=)
c.13377C>T (p.Ser4459=)
c.13347C>T (p.Ser4449=)
c.13524C>T (p.Ser4508=)
c.13374C>T (p.Ser4458=)
c.10074C>T (p.Ser3358=)
 dbSNP ExAC gnomAD v2
8g.143916393G>CCA372474494PLECc.13560C>G (p.Ser4520Arg)
c.13479C>G (p.Ser4493Arg)
c.13146C>G (p.Ser4382Arg)
c.13359C>G (p.Ser4453Arg)
c.13428C>G (p.Ser4476Arg)
c.10128C>G (p.Ser3376Arg)
c.13839C>G (p.Ser4613Arg)
c.13362C>G (p.Ser4454Arg)
c.13386C>G (p.Ser4462Arg)
c.13440C>G (p.Ser4480Arg)
c.13332C>G (p.Ser4444Arg)
c.13509C>G (p.Ser4503Arg)
c.13497C>G (p.Ser4499Arg)
c.13854C>G (p.Ser4618Arg)
c.13455C>G (p.Ser4485Arg)
c.13443C>G (p.Ser4481Arg)
c.13401C>G (p.Ser4467Arg)
c.13377C>G (p.Ser4459Arg)
c.13347C>G (p.Ser4449Arg)
c.13524C>G (p.Ser4508Arg)
c.13374C>G (p.Ser4458Arg)
c.10074C>G (p.Ser3358Arg)
8g.143916393G=CA1826037093PLECc.13560C= (p.Ser4520=)
c.13479C= (p.Ser4493=)
c.13146C= (p.Ser4382=)
c.13359C= (p.Ser4453=)
c.13428C= (p.Ser4476=)
c.10128C= (p.Ser3376=)
c.13839C= (p.Ser4613=)
c.13362C= (p.Ser4454=)
c.13386C= (p.Ser4462=)
c.13440C= (p.Ser4480=)
c.13332C= (p.Ser4444=)
c.13509C= (p.Ser4503=)
c.13497C= (p.Ser4499=)
c.13854C= (p.Ser4618=)
c.13455C= (p.Ser4485=)
c.13443C= (p.Ser4481=)
c.13401C= (p.Ser4467=)
c.13377C= (p.Ser4459=)
c.13347C= (p.Ser4449=)
c.13524C= (p.Ser4508=)
c.13374C= (p.Ser4458=)
c.10074C= (p.Ser3358=)
8g.143916393G>TCA372474496PLECc.13560C>A (p.Ser4520Arg)
c.13479C>A (p.Ser4493Arg)
c.13146C>A (p.Ser4382Arg)
c.13359C>A (p.Ser4453Arg)
c.13428C>A (p.Ser4476Arg)
c.10128C>A (p.Ser3376Arg)
c.13839C>A (p.Ser4613Arg)
c.13362C>A (p.Ser4454Arg)
c.13386C>A (p.Ser4462Arg)
c.13440C>A (p.Ser4480Arg)
c.13332C>A (p.Ser4444Arg)
c.13509C>A (p.Ser4503Arg)
c.13497C>A (p.Ser4499Arg)
c.13854C>A (p.Ser4618Arg)
c.13455C>A (p.Ser4485Arg)
c.13443C>A (p.Ser4481Arg)
c.13401C>A (p.Ser4467Arg)
c.13377C>A (p.Ser4459Arg)
c.13347C>A (p.Ser4449Arg)
c.13524C>A (p.Ser4508Arg)
c.13374C>A (p.Ser4458Arg)
c.10074C>A (p.Ser3358Arg)
 gnomAD v4
8g.143916394C>ACA372474498PLECc.13559G>T (p.Ser4520Ile)
c.13478G>T (p.Ser4493Ile)
c.13145G>T (p.Ser4382Ile)
c.13358G>T (p.Ser4453Ile)
c.13427G>T (p.Ser4476Ile)
c.10127G>T (p.Ser3376Ile)
c.13838G>T (p.Ser4613Ile)
c.13361G>T (p.Ser4454Ile)
c.13385G>T (p.Ser4462Ile)
c.13439G>T (p.Ser4480Ile)
c.13331G>T (p.Ser4444Ile)
c.13508G>T (p.Ser4503Ile)
c.13496G>T (p.Ser4499Ile)
c.13853G>T (p.Ser4618Ile)
c.13454G>T (p.Ser4485Ile)
c.13442G>T (p.Ser4481Ile)
c.13400G>T (p.Ser4467Ile)
c.13376G>T (p.Ser4459Ile)
c.13346G>T (p.Ser4449Ile)
c.13523G>T (p.Ser4508Ile)
c.13373G>T (p.Ser4458Ile)
c.10073G>T (p.Ser3358Ile)
 ClinVar dbSNP
8g.143916394C>GCA372474500PLECc.13559G>C (p.Ser4520Thr)
c.13478G>C (p.Ser4493Thr)
c.13145G>C (p.Ser4382Thr)
c.13358G>C (p.Ser4453Thr)
c.13427G>C (p.Ser4476Thr)
c.10127G>C (p.Ser3376Thr)
c.13838G>C (p.Ser4613Thr)
c.13361G>C (p.Ser4454Thr)
c.13385G>C (p.Ser4462Thr)
c.13439G>C (p.Ser4480Thr)
c.13331G>C (p.Ser4444Thr)
c.13508G>C (p.Ser4503Thr)
c.13496G>C (p.Ser4499Thr)
c.13853G>C (p.Ser4618Thr)
c.13454G>C (p.Ser4485Thr)
c.13442G>C (p.Ser4481Thr)
c.13400G>C (p.Ser4467Thr)
c.13376G>C (p.Ser4459Thr)
c.13346G>C (p.Ser4449Thr)
c.13523G>C (p.Ser4508Thr)
c.13373G>C (p.Ser4458Thr)
c.10073G>C (p.Ser3358Thr)
8g.143916394C>TCA372474501PLECc.13559G>A (p.Ser4520Asn)
c.13478G>A (p.Ser4493Asn)
c.13145G>A (p.Ser4382Asn)
c.13358G>A (p.Ser4453Asn)
c.13427G>A (p.Ser4476Asn)
c.10127G>A (p.Ser3376Asn)
c.13838G>A (p.Ser4613Asn)
c.13361G>A (p.Ser4454Asn)
c.13385G>A (p.Ser4462Asn)
c.13439G>A (p.Ser4480Asn)
c.13331G>A (p.Ser4444Asn)
c.13508G>A (p.Ser4503Asn)
c.13496G>A (p.Ser4499Asn)
c.13853G>A (p.Ser4618Asn)
c.13454G>A (p.Ser4485Asn)
c.13442G>A (p.Ser4481Asn)
c.13400G>A (p.Ser4467Asn)
c.13376G>A (p.Ser4459Asn)
c.13346G>A (p.Ser4449Asn)
c.13523G>A (p.Ser4508Asn)
c.13373G>A (p.Ser4458Asn)
c.10073G>A (p.Ser3358Asn)
8g.143916395T>ACA372474505PLECc.13558A>T (p.Ser4520Cys)
c.13477A>T (p.Ser4493Cys)
c.13144A>T (p.Ser4382Cys)
c.13357A>T (p.Ser4453Cys)
c.13426A>T (p.Ser4476Cys)
c.10126A>T (p.Ser3376Cys)
c.13837A>T (p.Ser4613Cys)
c.13360A>T (p.Ser4454Cys)
c.13384A>T (p.Ser4462Cys)
c.13438A>T (p.Ser4480Cys)
c.13330A>T (p.Ser4444Cys)
c.13507A>T (p.Ser4503Cys)
c.13495A>T (p.Ser4499Cys)
c.13852A>T (p.Ser4618Cys)
c.13453A>T (p.Ser4485Cys)
c.13441A>T (p.Ser4481Cys)
c.13399A>T (p.Ser4467Cys)
c.13375A>T (p.Ser4459Cys)
c.13345A>T (p.Ser4449Cys)
c.13522A>T (p.Ser4508Cys)
c.13372A>T (p.Ser4458Cys)
c.10072A>T (p.Ser3358Cys)
8g.143916395T>CCA372474507PLECc.13558A>G (p.Ser4520Gly)
c.13477A>G (p.Ser4493Gly)
c.13144A>G (p.Ser4382Gly)
c.13357A>G (p.Ser4453Gly)
c.13426A>G (p.Ser4476Gly)
c.10126A>G (p.Ser3376Gly)
c.13837A>G (p.Ser4613Gly)
c.13360A>G (p.Ser4454Gly)
c.13384A>G (p.Ser4462Gly)
c.13438A>G (p.Ser4480Gly)
c.13330A>G (p.Ser4444Gly)
c.13507A>G (p.Ser4503Gly)
c.13495A>G (p.Ser4499Gly)
c.13852A>G (p.Ser4618Gly)
c.13453A>G (p.Ser4485Gly)
c.13441A>G (p.Ser4481Gly)
c.13399A>G (p.Ser4467Gly)
c.13375A>G (p.Ser4459Gly)
c.13345A>G (p.Ser4449Gly)
c.13522A>G (p.Ser4508Gly)
c.13372A>G (p.Ser4458Gly)
c.10072A>G (p.Ser3358Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.143916395T>GCA372474503PLECc.13558A>C (p.Ser4520Arg)
c.13477A>C (p.Ser4493Arg)
c.13144A>C (p.Ser4382Arg)
c.13357A>C (p.Ser4453Arg)
c.13426A>C (p.Ser4476Arg)
c.10126A>C (p.Ser3376Arg)
c.13837A>C (p.Ser4613Arg)
c.13360A>C (p.Ser4454Arg)
c.13384A>C (p.Ser4462Arg)
c.13438A>C (p.Ser4480Arg)
c.13330A>C (p.Ser4444Arg)
c.13507A>C (p.Ser4503Arg)
c.13495A>C (p.Ser4499Arg)
c.13852A>C (p.Ser4618Arg)
c.13453A>C (p.Ser4485Arg)
c.13441A>C (p.Ser4481Arg)
c.13399A>C (p.Ser4467Arg)
c.13375A>C (p.Ser4459Arg)
c.13345A>C (p.Ser4449Arg)
c.13522A>C (p.Ser4508Arg)
c.13372A>C (p.Ser4458Arg)
c.10072A>C (p.Ser3358Arg)
8g.143916395T=CA1826037096PLECc.13558A= (p.Ser4520=)
c.13477A= (p.Ser4493=)
c.13144A= (p.Ser4382=)
c.13357A= (p.Ser4453=)
c.13426A= (p.Ser4476=)
c.10126A= (p.Ser3376=)
c.13837A= (p.Ser4613=)
c.13360A= (p.Ser4454=)
c.13384A= (p.Ser4462=)
c.13438A= (p.Ser4480=)
c.13330A= (p.Ser4444=)
c.13507A= (p.Ser4503=)
c.13495A= (p.Ser4499=)
c.13852A= (p.Ser4618=)
c.13453A= (p.Ser4485=)
c.13441A= (p.Ser4481=)
c.13399A= (p.Ser4467=)
c.13375A= (p.Ser4459=)
c.13345A= (p.Ser4449=)
c.13522A= (p.Ser4508=)
c.13372A= (p.Ser4458=)
c.10072A= (p.Ser3358=)
8g.143916396G>ACA463526368PLECc.13557C>T (p.Tyr4519=)
c.13476C>T (p.Tyr4492=)
c.13143C>T (p.Tyr4381=)
c.13356C>T (p.Tyr4452=)
c.13425C>T (p.Tyr4475=)
c.10125C>T (p.Tyr3375=)
c.13836C>T (p.Tyr4612=)
c.13359C>T (p.Tyr4453=)
c.13383C>T (p.Tyr4461=)
c.13437C>T (p.Tyr4479=)
c.13329C>T (p.Tyr4443=)
c.13506C>T (p.Tyr4502=)
c.13494C>T (p.Tyr4498=)
c.13851C>T (p.Tyr4617=)
c.13452C>T (p.Tyr4484=)
c.13440C>T (p.Tyr4480=)
c.13398C>T (p.Tyr4466=)
c.13374C>T (p.Tyr4458=)
c.13344C>T (p.Tyr4448=)
c.13521C>T (p.Tyr4507=)
c.13371C>T (p.Tyr4457=)
c.10071C>T (p.Tyr3357=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143916396G>CCA372474511PLECc.13557C>G (p.Tyr4519Ter)
c.13476C>G (p.Tyr4492Ter)
c.13143C>G (p.Tyr4381Ter)
c.13356C>G (p.Tyr4452Ter)
c.13425C>G (p.Tyr4475Ter)
c.10125C>G (p.Tyr3375Ter)
c.13836C>G (p.Tyr4612Ter)
c.13359C>G (p.Tyr4453Ter)
c.13383C>G (p.Tyr4461Ter)
c.13437C>G (p.Tyr4479Ter)
c.13329C>G (p.Tyr4443Ter)
c.13506C>G (p.Tyr4502Ter)
c.13494C>G (p.Tyr4498Ter)
c.13851C>G (p.Tyr4617Ter)
c.13452C>G (p.Tyr4484Ter)
c.13440C>G (p.Tyr4480Ter)
c.13398C>G (p.Tyr4466Ter)
c.13374C>G (p.Tyr4458Ter)
c.13344C>G (p.Tyr4448Ter)
c.13521C>G (p.Tyr4507Ter)
c.13371C>G (p.Tyr4457Ter)
c.10071C>G (p.Tyr3357Ter)
8g.143916396G=CA1826037099PLECc.13557C= (p.Tyr4519=)
c.13476C= (p.Tyr4492=)
c.13143C= (p.Tyr4381=)
c.13356C= (p.Tyr4452=)
c.13425C= (p.Tyr4475=)
c.10125C= (p.Tyr3375=)
c.13836C= (p.Tyr4612=)
c.13359C= (p.Tyr4453=)
c.13383C= (p.Tyr4461=)
c.13437C= (p.Tyr4479=)
c.13329C= (p.Tyr4443=)
c.13506C= (p.Tyr4502=)
c.13494C= (p.Tyr4498=)
c.13851C= (p.Tyr4617=)
c.13452C= (p.Tyr4484=)
c.13440C= (p.Tyr4480=)
c.13398C= (p.Tyr4466=)
c.13374C= (p.Tyr4458=)
c.13344C= (p.Tyr4448=)
c.13521C= (p.Tyr4507=)
c.13371C= (p.Tyr4457=)
c.10071C= (p.Tyr3357=)
8g.143916396G>TCA372474509PLECc.13557C>A (p.Tyr4519Ter)
c.13476C>A (p.Tyr4492Ter)
c.13143C>A (p.Tyr4381Ter)
c.13356C>A (p.Tyr4452Ter)
c.13425C>A (p.Tyr4475Ter)
c.10125C>A (p.Tyr3375Ter)
c.13836C>A (p.Tyr4612Ter)
c.13359C>A (p.Tyr4453Ter)
c.13383C>A (p.Tyr4461Ter)
c.13437C>A (p.Tyr4479Ter)
c.13329C>A (p.Tyr4443Ter)
c.13506C>A (p.Tyr4502Ter)
c.13494C>A (p.Tyr4498Ter)
c.13851C>A (p.Tyr4617Ter)
c.13452C>A (p.Tyr4484Ter)
c.13440C>A (p.Tyr4480Ter)
c.13398C>A (p.Tyr4466Ter)
c.13374C>A (p.Tyr4458Ter)
c.13344C>A (p.Tyr4448Ter)
c.13521C>A (p.Tyr4507Ter)
c.13371C>A (p.Tyr4457Ter)
c.10071C>A (p.Tyr3357Ter)
8g.143916397T>ACA372474517PLECc.13556A>T (p.Tyr4519Phe)
c.13475A>T (p.Tyr4492Phe)
c.13142A>T (p.Tyr4381Phe)
c.13355A>T (p.Tyr4452Phe)
c.13424A>T (p.Tyr4475Phe)
c.10124A>T (p.Tyr3375Phe)
c.13835A>T (p.Tyr4612Phe)
c.13358A>T (p.Tyr4453Phe)
c.13382A>T (p.Tyr4461Phe)
c.13436A>T (p.Tyr4479Phe)
c.13328A>T (p.Tyr4443Phe)
c.13505A>T (p.Tyr4502Phe)
c.13493A>T (p.Tyr4498Phe)
c.13850A>T (p.Tyr4617Phe)
c.13451A>T (p.Tyr4484Phe)
c.13439A>T (p.Tyr4480Phe)
c.13397A>T (p.Tyr4466Phe)
c.13373A>T (p.Tyr4458Phe)
c.13343A>T (p.Tyr4448Phe)
c.13520A>T (p.Tyr4507Phe)
c.13370A>T (p.Tyr4457Phe)
c.10070A>T (p.Tyr3357Phe)
8g.143916397T>CCA372474513PLECc.13556A>G (p.Tyr4519Cys)
c.13475A>G (p.Tyr4492Cys)
c.13142A>G (p.Tyr4381Cys)
c.13355A>G (p.Tyr4452Cys)
c.13424A>G (p.Tyr4475Cys)
c.10124A>G (p.Tyr3375Cys)
c.13835A>G (p.Tyr4612Cys)
c.13358A>G (p.Tyr4453Cys)
c.13382A>G (p.Tyr4461Cys)
c.13436A>G (p.Tyr4479Cys)
c.13328A>G (p.Tyr4443Cys)
c.13505A>G (p.Tyr4502Cys)
c.13493A>G (p.Tyr4498Cys)
c.13850A>G (p.Tyr4617Cys)
c.13451A>G (p.Tyr4484Cys)
c.13439A>G (p.Tyr4480Cys)
c.13397A>G (p.Tyr4466Cys)
c.13373A>G (p.Tyr4458Cys)
c.13343A>G (p.Tyr4448Cys)
c.13520A>G (p.Tyr4507Cys)
c.13370A>G (p.Tyr4457Cys)
c.10070A>G (p.Tyr3357Cys)
8g.143916397T>GCA372474515PLECc.13556A>C (p.Tyr4519Ser)
c.13475A>C (p.Tyr4492Ser)
c.13142A>C (p.Tyr4381Ser)
c.13355A>C (p.Tyr4452Ser)
c.13424A>C (p.Tyr4475Ser)
c.10124A>C (p.Tyr3375Ser)
c.13835A>C (p.Tyr4612Ser)
c.13358A>C (p.Tyr4453Ser)
c.13382A>C (p.Tyr4461Ser)
c.13436A>C (p.Tyr4479Ser)
c.13328A>C (p.Tyr4443Ser)
c.13505A>C (p.Tyr4502Ser)
c.13493A>C (p.Tyr4498Ser)
c.13850A>C (p.Tyr4617Ser)
c.13451A>C (p.Tyr4484Ser)
c.13439A>C (p.Tyr4480Ser)
c.13397A>C (p.Tyr4466Ser)
c.13373A>C (p.Tyr4458Ser)
c.13343A>C (p.Tyr4448Ser)
c.13520A>C (p.Tyr4507Ser)
c.13370A>C (p.Tyr4457Ser)
c.10070A>C (p.Tyr3357Ser)
8g.143916398A>CCA372474518PLECc.13555T>G (p.Tyr4519Asp)
c.13474T>G (p.Tyr4492Asp)
c.13141T>G (p.Tyr4381Asp)
c.13354T>G (p.Tyr4452Asp)
c.13423T>G (p.Tyr4475Asp)
c.10123T>G (p.Tyr3375Asp)
c.13834T>G (p.Tyr4612Asp)
c.13357T>G (p.Tyr4453Asp)
c.13381T>G (p.Tyr4461Asp)
c.13435T>G (p.Tyr4479Asp)
c.13327T>G (p.Tyr4443Asp)
c.13504T>G (p.Tyr4502Asp)
c.13492T>G (p.Tyr4498Asp)
c.13849T>G (p.Tyr4617Asp)
c.13450T>G (p.Tyr4484Asp)
c.13438T>G (p.Tyr4480Asp)
c.13396T>G (p.Tyr4466Asp)
c.13372T>G (p.Tyr4458Asp)
c.13342T>G (p.Tyr4448Asp)
c.13519T>G (p.Tyr4507Asp)
c.13369T>G (p.Tyr4457Asp)
c.10069T>G (p.Tyr3357Asp)
8g.143916398A>GCA372474519PLECc.13555T>C (p.Tyr4519His)
c.13474T>C (p.Tyr4492His)
c.13141T>C (p.Tyr4381His)
c.13354T>C (p.Tyr4452His)
c.13423T>C (p.Tyr4475His)
c.10123T>C (p.Tyr3375His)
c.13834T>C (p.Tyr4612His)
c.13357T>C (p.Tyr4453His)
c.13381T>C (p.Tyr4461His)
c.13435T>C (p.Tyr4479His)
c.13327T>C (p.Tyr4443His)
c.13504T>C (p.Tyr4502His)
c.13492T>C (p.Tyr4498His)
c.13849T>C (p.Tyr4617His)
c.13450T>C (p.Tyr4484His)
c.13438T>C (p.Tyr4480His)
c.13396T>C (p.Tyr4466His)
c.13372T>C (p.Tyr4458His)
c.13342T>C (p.Tyr4448His)
c.13519T>C (p.Tyr4507His)
c.13369T>C (p.Tyr4457His)
c.10069T>C (p.Tyr3357His)
 gnomAD v4
8g.143916398A>TCA372474521PLECc.13555T>A (p.Tyr4519Asn)
c.13474T>A (p.Tyr4492Asn)
c.13141T>A (p.Tyr4381Asn)
c.13354T>A (p.Tyr4452Asn)
c.13423T>A (p.Tyr4475Asn)
c.10123T>A (p.Tyr3375Asn)
c.13834T>A (p.Tyr4612Asn)
c.13357T>A (p.Tyr4453Asn)
c.13381T>A (p.Tyr4461Asn)
c.13435T>A (p.Tyr4479Asn)
c.13327T>A (p.Tyr4443Asn)
c.13504T>A (p.Tyr4502Asn)
c.13492T>A (p.Tyr4498Asn)
c.13849T>A (p.Tyr4617Asn)
c.13450T>A (p.Tyr4484Asn)
c.13438T>A (p.Tyr4480Asn)
c.13396T>A (p.Tyr4466Asn)
c.13372T>A (p.Tyr4458Asn)
c.13342T>A (p.Tyr4448Asn)
c.13519T>A (p.Tyr4507Asn)
c.13369T>A (p.Tyr4457Asn)
c.10069T>A (p.Tyr3357Asn)
8g.143916399G>ACA463526384PLECc.13554C>T (p.Tyr4518=)
c.13473C>T (p.Tyr4491=)
c.13140C>T (p.Tyr4380=)
c.13353C>T (p.Tyr4451=)
c.13422C>T (p.Tyr4474=)
c.10122C>T (p.Tyr3374=)
c.13833C>T (p.Tyr4611=)
c.13356C>T (p.Tyr4452=)
c.13380C>T (p.Tyr4460=)
c.13434C>T (p.Tyr4478=)
c.13326C>T (p.Tyr4442=)
c.13503C>T (p.Tyr4501=)
c.13491C>T (p.Tyr4497=)
c.13848C>T (p.Tyr4616=)
c.13449C>T (p.Tyr4483=)
c.13437C>T (p.Tyr4479=)
c.13395C>T (p.Tyr4465=)
c.13371C>T (p.Tyr4457=)
c.13341C>T (p.Tyr4447=)
c.13518C>T (p.Tyr4506=)
c.13368C>T (p.Tyr4456=)
c.10068C>T (p.Tyr3356=)
8g.143916399G>CCA4923811PLECc.13554C>G (p.Tyr4518Ter)
c.13473C>G (p.Tyr4491Ter)
c.13140C>G (p.Tyr4380Ter)
c.13353C>G (p.Tyr4451Ter)
c.13422C>G (p.Tyr4474Ter)
c.10122C>G (p.Tyr3374Ter)
c.13833C>G (p.Tyr4611Ter)
c.13356C>G (p.Tyr4452Ter)
c.13380C>G (p.Tyr4460Ter)
c.13434C>G (p.Tyr4478Ter)
c.13326C>G (p.Tyr4442Ter)
c.13503C>G (p.Tyr4501Ter)
c.13491C>G (p.Tyr4497Ter)
c.13848C>G (p.Tyr4616Ter)
c.13449C>G (p.Tyr4483Ter)
c.13437C>G (p.Tyr4479Ter)
c.13395C>G (p.Tyr4465Ter)
c.13371C>G (p.Tyr4457Ter)
c.13341C>G (p.Tyr4447Ter)
c.13518C>G (p.Tyr4506Ter)
c.13368C>G (p.Tyr4456Ter)
c.10068C>G (p.Tyr3356Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916399G=CA1826037101PLECc.13554C= (p.Tyr4518=)
c.13473C= (p.Tyr4491=)
c.13140C= (p.Tyr4380=)
c.13353C= (p.Tyr4451=)
c.13422C= (p.Tyr4474=)
c.10122C= (p.Tyr3374=)
c.13833C= (p.Tyr4611=)
c.13356C= (p.Tyr4452=)
c.13380C= (p.Tyr4460=)
c.13434C= (p.Tyr4478=)
c.13326C= (p.Tyr4442=)
c.13503C= (p.Tyr4501=)
c.13491C= (p.Tyr4497=)
c.13848C= (p.Tyr4616=)
c.13449C= (p.Tyr4483=)
c.13437C= (p.Tyr4479=)
c.13395C= (p.Tyr4465=)
c.13371C= (p.Tyr4457=)
c.13341C= (p.Tyr4447=)
c.13518C= (p.Tyr4506=)
c.13368C= (p.Tyr4456=)
c.10068C= (p.Tyr3356=)
8g.143916399G>TCA372474524PLECc.13554C>A (p.Tyr4518Ter)
c.13473C>A (p.Tyr4491Ter)
c.13140C>A (p.Tyr4380Ter)
c.13353C>A (p.Tyr4451Ter)
c.13422C>A (p.Tyr4474Ter)
c.10122C>A (p.Tyr3374Ter)
c.13833C>A (p.Tyr4611Ter)
c.13356C>A (p.Tyr4452Ter)
c.13380C>A (p.Tyr4460Ter)
c.13434C>A (p.Tyr4478Ter)
c.13326C>A (p.Tyr4442Ter)
c.13503C>A (p.Tyr4501Ter)
c.13491C>A (p.Tyr4497Ter)
c.13848C>A (p.Tyr4616Ter)
c.13449C>A (p.Tyr4483Ter)
c.13437C>A (p.Tyr4479Ter)
c.13395C>A (p.Tyr4465Ter)
c.13371C>A (p.Tyr4457Ter)
c.13341C>A (p.Tyr4447Ter)
c.13518C>A (p.Tyr4506Ter)
c.13368C>A (p.Tyr4456Ter)
c.10068C>A (p.Tyr3356Ter)
8g.143916400T>ACA372474526PLECc.13553A>T (p.Tyr4518Phe)
c.13472A>T (p.Tyr4491Phe)
c.13139A>T (p.Tyr4380Phe)
c.13352A>T (p.Tyr4451Phe)
c.13421A>T (p.Tyr4474Phe)
c.10121A>T (p.Tyr3374Phe)
c.13832A>T (p.Tyr4611Phe)
c.13355A>T (p.Tyr4452Phe)
c.13379A>T (p.Tyr4460Phe)
c.13433A>T (p.Tyr4478Phe)
c.13325A>T (p.Tyr4442Phe)
c.13502A>T (p.Tyr4501Phe)
c.13490A>T (p.Tyr4497Phe)
c.13847A>T (p.Tyr4616Phe)
c.13448A>T (p.Tyr4483Phe)
c.13436A>T (p.Tyr4479Phe)
c.13394A>T (p.Tyr4465Phe)
c.13370A>T (p.Tyr4457Phe)
c.13340A>T (p.Tyr4447Phe)
c.13517A>T (p.Tyr4506Phe)
c.13367A>T (p.Tyr4456Phe)
c.10067A>T (p.Tyr3356Phe)
8g.143916400T>CCA372474528PLECc.13553A>G (p.Tyr4518Cys)
c.13472A>G (p.Tyr4491Cys)
c.13139A>G (p.Tyr4380Cys)
c.13352A>G (p.Tyr4451Cys)
c.13421A>G (p.Tyr4474Cys)
c.10121A>G (p.Tyr3374Cys)
c.13832A>G (p.Tyr4611Cys)
c.13355A>G (p.Tyr4452Cys)
c.13379A>G (p.Tyr4460Cys)
c.13433A>G (p.Tyr4478Cys)
c.13325A>G (p.Tyr4442Cys)
c.13502A>G (p.Tyr4501Cys)
c.13490A>G (p.Tyr4497Cys)
c.13847A>G (p.Tyr4616Cys)
c.13448A>G (p.Tyr4483Cys)
c.13436A>G (p.Tyr4479Cys)
c.13394A>G (p.Tyr4465Cys)
c.13370A>G (p.Tyr4457Cys)
c.13340A>G (p.Tyr4447Cys)
c.13517A>G (p.Tyr4506Cys)
c.13367A>G (p.Tyr4456Cys)
c.10067A>G (p.Tyr3356Cys)
8g.143916400T>GCA4923812PLECc.13553A>C (p.Tyr4518Ser)
c.13472A>C (p.Tyr4491Ser)
c.13139A>C (p.Tyr4380Ser)
c.13352A>C (p.Tyr4451Ser)
c.13421A>C (p.Tyr4474Ser)
c.10121A>C (p.Tyr3374Ser)
c.13832A>C (p.Tyr4611Ser)
c.13355A>C (p.Tyr4452Ser)
c.13379A>C (p.Tyr4460Ser)
c.13433A>C (p.Tyr4478Ser)
c.13325A>C (p.Tyr4442Ser)
c.13502A>C (p.Tyr4501Ser)
c.13490A>C (p.Tyr4497Ser)
c.13847A>C (p.Tyr4616Ser)
c.13448A>C (p.Tyr4483Ser)
c.13436A>C (p.Tyr4479Ser)
c.13394A>C (p.Tyr4465Ser)
c.13370A>C (p.Tyr4457Ser)
c.13340A>C (p.Tyr4447Ser)
c.13517A>C (p.Tyr4506Ser)
c.13367A>C (p.Tyr4456Ser)
c.10067A>C (p.Tyr3356Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916400T=CA1826037103PLECc.13553A= (p.Tyr4518=)
c.13472A= (p.Tyr4491=)
c.13139A= (p.Tyr4380=)
c.13352A= (p.Tyr4451=)
c.13421A= (p.Tyr4474=)
c.10121A= (p.Tyr3374=)
c.13832A= (p.Tyr4611=)
c.13355A= (p.Tyr4452=)
c.13379A= (p.Tyr4460=)
c.13433A= (p.Tyr4478=)
c.13325A= (p.Tyr4442=)
c.13502A= (p.Tyr4501=)
c.13490A= (p.Tyr4497=)
c.13847A= (p.Tyr4616=)
c.13448A= (p.Tyr4483=)
c.13436A= (p.Tyr4479=)
c.13394A= (p.Tyr4465=)
c.13370A= (p.Tyr4457=)
c.13340A= (p.Tyr4447=)
c.13517A= (p.Tyr4506=)
c.13367A= (p.Tyr4456=)
c.10067A= (p.Tyr3356=)
8g.143916401A>CCA372474531PLECc.13552T>G (p.Tyr4518Asp)
c.13471T>G (p.Tyr4491Asp)
c.13138T>G (p.Tyr4380Asp)
c.13351T>G (p.Tyr4451Asp)
c.13420T>G (p.Tyr4474Asp)
c.10120T>G (p.Tyr3374Asp)
c.13831T>G (p.Tyr4611Asp)
c.13354T>G (p.Tyr4452Asp)
c.13378T>G (p.Tyr4460Asp)
c.13432T>G (p.Tyr4478Asp)
c.13324T>G (p.Tyr4442Asp)
c.13501T>G (p.Tyr4501Asp)
c.13489T>G (p.Tyr4497Asp)
c.13846T>G (p.Tyr4616Asp)
c.13447T>G (p.Tyr4483Asp)
c.13435T>G (p.Tyr4479Asp)
c.13393T>G (p.Tyr4465Asp)
c.13369T>G (p.Tyr4457Asp)
c.13339T>G (p.Tyr4447Asp)
c.13516T>G (p.Tyr4506Asp)
c.13366T>G (p.Tyr4456Asp)
c.10066T>G (p.Tyr3356Asp)
8g.143916401A>GCA372474533PLECc.13552T>C (p.Tyr4518His)
c.13471T>C (p.Tyr4491His)
c.13138T>C (p.Tyr4380His)
c.13351T>C (p.Tyr4451His)
c.13420T>C (p.Tyr4474His)
c.10120T>C (p.Tyr3374His)
c.13831T>C (p.Tyr4611His)
c.13354T>C (p.Tyr4452His)
c.13378T>C (p.Tyr4460His)
c.13432T>C (p.Tyr4478His)
c.13324T>C (p.Tyr4442His)
c.13501T>C (p.Tyr4501His)
c.13489T>C (p.Tyr4497His)
c.13846T>C (p.Tyr4616His)
c.13447T>C (p.Tyr4483His)
c.13435T>C (p.Tyr4479His)
c.13393T>C (p.Tyr4465His)
c.13369T>C (p.Tyr4457His)
c.13339T>C (p.Tyr4447His)
c.13516T>C (p.Tyr4506His)
c.13366T>C (p.Tyr4456His)
c.10066T>C (p.Tyr3356His)
8g.143916401A>TCA372474535PLECc.13552T>A (p.Tyr4518Asn)
c.13471T>A (p.Tyr4491Asn)
c.13138T>A (p.Tyr4380Asn)
c.13351T>A (p.Tyr4451Asn)
c.13420T>A (p.Tyr4474Asn)
c.10120T>A (p.Tyr3374Asn)
c.13831T>A (p.Tyr4611Asn)
c.13354T>A (p.Tyr4452Asn)
c.13378T>A (p.Tyr4460Asn)
c.13432T>A (p.Tyr4478Asn)
c.13324T>A (p.Tyr4442Asn)
c.13501T>A (p.Tyr4501Asn)
c.13489T>A (p.Tyr4497Asn)
c.13846T>A (p.Tyr4616Asn)
c.13447T>A (p.Tyr4483Asn)
c.13435T>A (p.Tyr4479Asn)
c.13393T>A (p.Tyr4465Asn)
c.13369T>A (p.Tyr4457Asn)
c.13339T>A (p.Tyr4447Asn)
c.13516T>A (p.Tyr4506Asn)
c.13366T>A (p.Tyr4456Asn)
c.10066T>A (p.Tyr3356Asn)
8g.143916402G>ACA463526393PLECc.13551C>T (p.Gly4517=)
c.13470C>T (p.Gly4490=)
c.13137C>T (p.Gly4379=)
c.13350C>T (p.Gly4450=)
c.13419C>T (p.Gly4473=)
c.10119C>T (p.Gly3373=)
c.13830C>T (p.Gly4610=)
c.13353C>T (p.Gly4451=)
c.13377C>T (p.Gly4459=)
c.13431C>T (p.Gly4477=)
c.13323C>T (p.Gly4441=)
c.13500C>T (p.Gly4500=)
c.13488C>T (p.Gly4496=)
c.13845C>T (p.Gly4615=)
c.13446C>T (p.Gly4482=)
c.13434C>T (p.Gly4478=)
c.13392C>T (p.Gly4464=)
c.13368C>T (p.Gly4456=)
c.13338C>T (p.Gly4446=)
c.13515C>T (p.Gly4505=)
c.13365C>T (p.Gly4455=)
c.10065C>T (p.Gly3355=)
 dbSNP gnomAD v2 gnomAD v4
8g.143916402G>CCA463526394PLECc.13551C>G (p.Gly4517=)
c.13470C>G (p.Gly4490=)
c.13137C>G (p.Gly4379=)
c.13350C>G (p.Gly4450=)
c.13419C>G (p.Gly4473=)
c.10119C>G (p.Gly3373=)
c.13830C>G (p.Gly4610=)
c.13353C>G (p.Gly4451=)
c.13377C>G (p.Gly4459=)
c.13431C>G (p.Gly4477=)
c.13323C>G (p.Gly4441=)
c.13500C>G (p.Gly4500=)
c.13488C>G (p.Gly4496=)
c.13845C>G (p.Gly4615=)
c.13446C>G (p.Gly4482=)
c.13434C>G (p.Gly4478=)
c.13392C>G (p.Gly4464=)
c.13368C>G (p.Gly4456=)
c.13338C>G (p.Gly4446=)
c.13515C>G (p.Gly4505=)
c.13365C>G (p.Gly4455=)
c.10065C>G (p.Gly3355=)
8g.143916402G=CA1826037105PLECc.13551C= (p.Gly4517=)
c.13470C= (p.Gly4490=)
c.13137C= (p.Gly4379=)
c.13350C= (p.Gly4450=)
c.13419C= (p.Gly4473=)
c.10119C= (p.Gly3373=)
c.13830C= (p.Gly4610=)
c.13353C= (p.Gly4451=)
c.13377C= (p.Gly4459=)
c.13431C= (p.Gly4477=)
c.13323C= (p.Gly4441=)
c.13500C= (p.Gly4500=)
c.13488C= (p.Gly4496=)
c.13845C= (p.Gly4615=)
c.13446C= (p.Gly4482=)
c.13434C= (p.Gly4478=)
c.13392C= (p.Gly4464=)
c.13368C= (p.Gly4456=)
c.13338C= (p.Gly4446=)
c.13515C= (p.Gly4505=)
c.13365C= (p.Gly4455=)
c.10065C= (p.Gly3355=)
8g.143916402G>TCA463526395PLECc.13551C>A (p.Gly4517=)
c.13470C>A (p.Gly4490=)
c.13137C>A (p.Gly4379=)
c.13350C>A (p.Gly4450=)
c.13419C>A (p.Gly4473=)
c.10119C>A (p.Gly3373=)
c.13830C>A (p.Gly4610=)
c.13353C>A (p.Gly4451=)
c.13377C>A (p.Gly4459=)
c.13431C>A (p.Gly4477=)
c.13323C>A (p.Gly4441=)
c.13500C>A (p.Gly4500=)
c.13488C>A (p.Gly4496=)
c.13845C>A (p.Gly4615=)
c.13446C>A (p.Gly4482=)
c.13434C>A (p.Gly4478=)
c.13392C>A (p.Gly4464=)
c.13368C>A (p.Gly4456=)
c.13338C>A (p.Gly4446=)
c.13515C>A (p.Gly4505=)
c.13365C>A (p.Gly4455=)
c.10065C>A (p.Gly3355=)
 dbSNP gnomAD v3 gnomAD v4
8g.143916403C>ACA372474541PLECc.13550G>T (p.Gly4517Val)
c.13469G>T (p.Gly4490Val)
c.13136G>T (p.Gly4379Val)
c.13349G>T (p.Gly4450Val)
c.13418G>T (p.Gly4473Val)
c.10118G>T (p.Gly3373Val)
c.13829G>T (p.Gly4610Val)
c.13352G>T (p.Gly4451Val)
c.13376G>T (p.Gly4459Val)
c.13430G>T (p.Gly4477Val)
c.13322G>T (p.Gly4441Val)
c.13499G>T (p.Gly4500Val)
c.13487G>T (p.Gly4496Val)
c.13844G>T (p.Gly4615Val)
c.13445G>T (p.Gly4482Val)
c.13433G>T (p.Gly4478Val)
c.13391G>T (p.Gly4464Val)
c.13367G>T (p.Gly4456Val)
c.13337G>T (p.Gly4446Val)
c.13514G>T (p.Gly4505Val)
c.13364G>T (p.Gly4455Val)
c.10064G>T (p.Gly3355Val)
8g.143916403C>GCA372474537PLECc.13550G>C (p.Gly4517Ala)
c.13469G>C (p.Gly4490Ala)
c.13136G>C (p.Gly4379Ala)
c.13349G>C (p.Gly4450Ala)
c.13418G>C (p.Gly4473Ala)
c.10118G>C (p.Gly3373Ala)
c.13829G>C (p.Gly4610Ala)
c.13352G>C (p.Gly4451Ala)
c.13376G>C (p.Gly4459Ala)
c.13430G>C (p.Gly4477Ala)
c.13322G>C (p.Gly4441Ala)
c.13499G>C (p.Gly4500Ala)
c.13487G>C (p.Gly4496Ala)
c.13844G>C (p.Gly4615Ala)
c.13445G>C (p.Gly4482Ala)
c.13433G>C (p.Gly4478Ala)
c.13391G>C (p.Gly4464Ala)
c.13367G>C (p.Gly4456Ala)
c.13337G>C (p.Gly4446Ala)
c.13514G>C (p.Gly4505Ala)
c.13364G>C (p.Gly4455Ala)
c.10064G>C (p.Gly3355Ala)
8g.143916403C>TCA372474539PLECc.13550G>A (p.Gly4517Asp)
c.13469G>A (p.Gly4490Asp)
c.13136G>A (p.Gly4379Asp)
c.13349G>A (p.Gly4450Asp)
c.13418G>A (p.Gly4473Asp)
c.10118G>A (p.Gly3373Asp)
c.13829G>A (p.Gly4610Asp)
c.13352G>A (p.Gly4451Asp)
c.13376G>A (p.Gly4459Asp)
c.13430G>A (p.Gly4477Asp)
c.13322G>A (p.Gly4441Asp)
c.13499G>A (p.Gly4500Asp)
c.13487G>A (p.Gly4496Asp)
c.13844G>A (p.Gly4615Asp)
c.13445G>A (p.Gly4482Asp)
c.13433G>A (p.Gly4478Asp)
c.13391G>A (p.Gly4464Asp)
c.13367G>A (p.Gly4456Asp)
c.13337G>A (p.Gly4446Asp)
c.13514G>A (p.Gly4505Asp)
c.13364G>A (p.Gly4455Asp)
c.10064G>A (p.Gly3355Asp)
8g.143916404C>ACA372474543PLECc.13549G>T (p.Gly4517Cys)
c.13468G>T (p.Gly4490Cys)
c.13135G>T (p.Gly4379Cys)
c.13348G>T (p.Gly4450Cys)
c.13417G>T (p.Gly4473Cys)
c.10117G>T (p.Gly3373Cys)
c.13828G>T (p.Gly4610Cys)
c.13351G>T (p.Gly4451Cys)
c.13375G>T (p.Gly4459Cys)
c.13429G>T (p.Gly4477Cys)
c.13321G>T (p.Gly4441Cys)
c.13498G>T (p.Gly4500Cys)
c.13486G>T (p.Gly4496Cys)
c.13843G>T (p.Gly4615Cys)
c.13444G>T (p.Gly4482Cys)
c.13432G>T (p.Gly4478Cys)
c.13390G>T (p.Gly4464Cys)
c.13366G>T (p.Gly4456Cys)
c.13336G>T (p.Gly4446Cys)
c.13513G>T (p.Gly4505Cys)
c.13363G>T (p.Gly4455Cys)
c.10063G>T (p.Gly3355Cys)
8g.143916404C=CA1826037107PLECc.13549G= (p.Gly4517=)
c.13468G= (p.Gly4490=)
c.13135G= (p.Gly4379=)
c.13348G= (p.Gly4450=)
c.13417G= (p.Gly4473=)
c.10117G= (p.Gly3373=)
c.13828G= (p.Gly4610=)
c.13351G= (p.Gly4451=)
c.13375G= (p.Gly4459=)
c.13429G= (p.Gly4477=)
c.13321G= (p.Gly4441=)
c.13498G= (p.Gly4500=)
c.13486G= (p.Gly4496=)
c.13843G= (p.Gly4615=)
c.13444G= (p.Gly4482=)
c.13432G= (p.Gly4478=)
c.13390G= (p.Gly4464=)
c.13366G= (p.Gly4456=)
c.13336G= (p.Gly4446=)
c.13513G= (p.Gly4505=)
c.13363G= (p.Gly4455=)
c.10063G= (p.Gly3355=)
8g.143916404C>GCA372474544PLECc.13549G>C (p.Gly4517Arg)
c.13468G>C (p.Gly4490Arg)
c.13135G>C (p.Gly4379Arg)
c.13348G>C (p.Gly4450Arg)
c.13417G>C (p.Gly4473Arg)
c.10117G>C (p.Gly3373Arg)
c.13828G>C (p.Gly4610Arg)
c.13351G>C (p.Gly4451Arg)
c.13375G>C (p.Gly4459Arg)
c.13429G>C (p.Gly4477Arg)
c.13321G>C (p.Gly4441Arg)
c.13498G>C (p.Gly4500Arg)
c.13486G>C (p.Gly4496Arg)
c.13843G>C (p.Gly4615Arg)
c.13444G>C (p.Gly4482Arg)
c.13432G>C (p.Gly4478Arg)
c.13390G>C (p.Gly4464Arg)
c.13366G>C (p.Gly4456Arg)
c.13336G>C (p.Gly4446Arg)
c.13513G>C (p.Gly4505Arg)
c.13363G>C (p.Gly4455Arg)
c.10063G>C (p.Gly3355Arg)
8g.143916404C>TCA372474546PLECc.13549G>A (p.Gly4517Ser)
c.13468G>A (p.Gly4490Ser)
c.13135G>A (p.Gly4379Ser)
c.13348G>A (p.Gly4450Ser)
c.13417G>A (p.Gly4473Ser)
c.10117G>A (p.Gly3373Ser)
c.13828G>A (p.Gly4610Ser)
c.13351G>A (p.Gly4451Ser)
c.13375G>A (p.Gly4459Ser)
c.13429G>A (p.Gly4477Ser)
c.13321G>A (p.Gly4441Ser)
c.13498G>A (p.Gly4500Ser)
c.13486G>A (p.Gly4496Ser)
c.13843G>A (p.Gly4615Ser)
c.13444G>A (p.Gly4482Ser)
c.13432G>A (p.Gly4478Ser)
c.13390G>A (p.Gly4464Ser)
c.13366G>A (p.Gly4456Ser)
c.13336G>A (p.Gly4446Ser)
c.13513G>A (p.Gly4505Ser)
c.13363G>A (p.Gly4455Ser)
c.10063G>A (p.Gly3355Ser)
 dbSNP
8g.143916405C>ACA372474549PLECc.13548G>T (p.Lys4516Asn)
c.13467G>T (p.Lys4489Asn)
c.13134G>T (p.Lys4378Asn)
c.13347G>T (p.Lys4449Asn)
c.13416G>T (p.Lys4472Asn)
c.10116G>T (p.Lys3372Asn)
c.13827G>T (p.Lys4609Asn)
c.13350G>T (p.Lys4450Asn)
c.13374G>T (p.Lys4458Asn)
c.13428G>T (p.Lys4476Asn)
c.13320G>T (p.Lys4440Asn)
c.13497G>T (p.Lys4499Asn)
c.13485G>T (p.Lys4495Asn)
c.13842G>T (p.Lys4614Asn)
c.13443G>T (p.Lys4481Asn)
c.13431G>T (p.Lys4477Asn)
c.13389G>T (p.Lys4463Asn)
c.13365G>T (p.Lys4455Asn)
c.13335G>T (p.Lys4445Asn)
c.13512G>T (p.Lys4504Asn)
c.13362G>T (p.Lys4454Asn)
c.10062G>T (p.Lys3354Asn)
8g.143916405C=CA1826037110PLECc.13548G= (p.Lys4516=)
c.13467G= (p.Lys4489=)
c.13134G= (p.Lys4378=)
c.13347G= (p.Lys4449=)
c.13416G= (p.Lys4472=)
c.10116G= (p.Lys3372=)
c.13827G= (p.Lys4609=)
c.13350G= (p.Lys4450=)
c.13374G= (p.Lys4458=)
c.13428G= (p.Lys4476=)
c.13320G= (p.Lys4440=)
c.13497G= (p.Lys4499=)
c.13485G= (p.Lys4495=)
c.13842G= (p.Lys4614=)
c.13443G= (p.Lys4481=)
c.13431G= (p.Lys4477=)
c.13389G= (p.Lys4463=)
c.13365G= (p.Lys4455=)
c.13335G= (p.Lys4445=)
c.13512G= (p.Lys4504=)
c.13362G= (p.Lys4454=)
c.10062G= (p.Lys3354=)
8g.143916405C>GCA372474550PLECc.13548G>C (p.Lys4516Asn)
c.13467G>C (p.Lys4489Asn)
c.13134G>C (p.Lys4378Asn)
c.13347G>C (p.Lys4449Asn)
c.13416G>C (p.Lys4472Asn)
c.10116G>C (p.Lys3372Asn)
c.13827G>C (p.Lys4609Asn)
c.13350G>C (p.Lys4450Asn)
c.13374G>C (p.Lys4458Asn)
c.13428G>C (p.Lys4476Asn)
c.13320G>C (p.Lys4440Asn)
c.13497G>C (p.Lys4499Asn)
c.13485G>C (p.Lys4495Asn)
c.13842G>C (p.Lys4614Asn)
c.13443G>C (p.Lys4481Asn)
c.13431G>C (p.Lys4477Asn)
c.13389G>C (p.Lys4463Asn)
c.13365G>C (p.Lys4455Asn)
c.13335G>C (p.Lys4445Asn)
c.13512G>C (p.Lys4504Asn)
c.13362G>C (p.Lys4454Asn)
c.10062G>C (p.Lys3354Asn)
8g.143916405C>TCA463526407PLECc.13548G>A (p.Lys4516=)
c.13467G>A (p.Lys4489=)
c.13134G>A (p.Lys4378=)
c.13347G>A (p.Lys4449=)
c.13416G>A (p.Lys4472=)
c.10116G>A (p.Lys3372=)
c.13827G>A (p.Lys4609=)
c.13350G>A (p.Lys4450=)
c.13374G>A (p.Lys4458=)
c.13428G>A (p.Lys4476=)
c.13320G>A (p.Lys4440=)
c.13497G>A (p.Lys4499=)
c.13485G>A (p.Lys4495=)
c.13842G>A (p.Lys4614=)
c.13443G>A (p.Lys4481=)
c.13431G>A (p.Lys4477=)
c.13389G>A (p.Lys4463=)
c.13365G>A (p.Lys4455=)
c.13335G>A (p.Lys4445=)
c.13512G>A (p.Lys4504=)
c.13362G>A (p.Lys4454=)
c.10062G>A (p.Lys3354=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.143916406T>ACA372474553PLECc.13547A>T (p.Lys4516Met)
c.13466A>T (p.Lys4489Met)
c.13133A>T (p.Lys4378Met)
c.13346A>T (p.Lys4449Met)
c.13415A>T (p.Lys4472Met)
c.10115A>T (p.Lys3372Met)
c.13826A>T (p.Lys4609Met)
c.13349A>T (p.Lys4450Met)
c.13373A>T (p.Lys4458Met)
c.13427A>T (p.Lys4476Met)
c.13319A>T (p.Lys4440Met)
c.13496A>T (p.Lys4499Met)
c.13484A>T (p.Lys4495Met)
c.13841A>T (p.Lys4614Met)
c.13442A>T (p.Lys4481Met)
c.13430A>T (p.Lys4477Met)
c.13388A>T (p.Lys4463Met)
c.13364A>T (p.Lys4455Met)
c.13334A>T (p.Lys4445Met)
c.13511A>T (p.Lys4504Met)
c.13361A>T (p.Lys4454Met)
c.10061A>T (p.Lys3354Met)
8g.143916406T>CCA372474555PLECc.13547A>G (p.Lys4516Arg)
c.13466A>G (p.Lys4489Arg)
c.13133A>G (p.Lys4378Arg)
c.13346A>G (p.Lys4449Arg)
c.13415A>G (p.Lys4472Arg)
c.10115A>G (p.Lys3372Arg)
c.13826A>G (p.Lys4609Arg)
c.13349A>G (p.Lys4450Arg)
c.13373A>G (p.Lys4458Arg)
c.13427A>G (p.Lys4476Arg)
c.13319A>G (p.Lys4440Arg)
c.13496A>G (p.Lys4499Arg)
c.13484A>G (p.Lys4495Arg)
c.13841A>G (p.Lys4614Arg)
c.13442A>G (p.Lys4481Arg)
c.13430A>G (p.Lys4477Arg)
c.13388A>G (p.Lys4463Arg)
c.13364A>G (p.Lys4455Arg)
c.13334A>G (p.Lys4445Arg)
c.13511A>G (p.Lys4504Arg)
c.13361A>G (p.Lys4454Arg)
c.10061A>G (p.Lys3354Arg)
8g.143916406T>GCA372474557PLECc.13547A>C (p.Lys4516Thr)
c.13466A>C (p.Lys4489Thr)
c.13133A>C (p.Lys4378Thr)
c.13346A>C (p.Lys4449Thr)
c.13415A>C (p.Lys4472Thr)
c.10115A>C (p.Lys3372Thr)
c.13826A>C (p.Lys4609Thr)
c.13349A>C (p.Lys4450Thr)
c.13373A>C (p.Lys4458Thr)
c.13427A>C (p.Lys4476Thr)
c.13319A>C (p.Lys4440Thr)
c.13496A>C (p.Lys4499Thr)
c.13484A>C (p.Lys4495Thr)
c.13841A>C (p.Lys4614Thr)
c.13442A>C (p.Lys4481Thr)
c.13430A>C (p.Lys4477Thr)
c.13388A>C (p.Lys4463Thr)
c.13364A>C (p.Lys4455Thr)
c.13334A>C (p.Lys4445Thr)
c.13511A>C (p.Lys4504Thr)
c.13361A>C (p.Lys4454Thr)
c.10061A>C (p.Lys3354Thr)
8g.143916407T>ACA372474559PLECc.13546A>T (p.Lys4516Ter)
c.13465A>T (p.Lys4489Ter)
c.13132A>T (p.Lys4378Ter)
c.13345A>T (p.Lys4449Ter)
c.13414A>T (p.Lys4472Ter)
c.10114A>T (p.Lys3372Ter)
c.13825A>T (p.Lys4609Ter)
c.13348A>T (p.Lys4450Ter)
c.13372A>T (p.Lys4458Ter)
c.13426A>T (p.Lys4476Ter)
c.13318A>T (p.Lys4440Ter)
c.13495A>T (p.Lys4499Ter)
c.13483A>T (p.Lys4495Ter)
c.13840A>T (p.Lys4614Ter)
c.13441A>T (p.Lys4481Ter)
c.13429A>T (p.Lys4477Ter)
c.13387A>T (p.Lys4463Ter)
c.13363A>T (p.Lys4455Ter)
c.13333A>T (p.Lys4445Ter)
c.13510A>T (p.Lys4504Ter)
c.13360A>T (p.Lys4454Ter)
c.10060A>T (p.Lys3354Ter)
8g.143916407T>CCA372474561PLECc.13546A>G (p.Lys4516Glu)
c.13465A>G (p.Lys4489Glu)
c.13132A>G (p.Lys4378Glu)
c.13345A>G (p.Lys4449Glu)
c.13414A>G (p.Lys4472Glu)
c.10114A>G (p.Lys3372Glu)
c.13825A>G (p.Lys4609Glu)
c.13348A>G (p.Lys4450Glu)
c.13372A>G (p.Lys4458Glu)
c.13426A>G (p.Lys4476Glu)
c.13318A>G (p.Lys4440Glu)
c.13495A>G (p.Lys4499Glu)
c.13483A>G (p.Lys4495Glu)
c.13840A>G (p.Lys4614Glu)
c.13441A>G (p.Lys4481Glu)
c.13429A>G (p.Lys4477Glu)
c.13387A>G (p.Lys4463Glu)
c.13363A>G (p.Lys4455Glu)
c.13333A>G (p.Lys4445Glu)
c.13510A>G (p.Lys4504Glu)
c.13360A>G (p.Lys4454Glu)
c.10060A>G (p.Lys3354Glu)
 dbSNP gnomAD v4
8g.143916407T>GCA4923813PLECc.13546A>C (p.Lys4516Gln)
c.13465A>C (p.Lys4489Gln)
c.13132A>C (p.Lys4378Gln)
c.13345A>C (p.Lys4449Gln)
c.13414A>C (p.Lys4472Gln)
c.10114A>C (p.Lys3372Gln)
c.13825A>C (p.Lys4609Gln)
c.13348A>C (p.Lys4450Gln)
c.13372A>C (p.Lys4458Gln)
c.13426A>C (p.Lys4476Gln)
c.13318A>C (p.Lys4440Gln)
c.13495A>C (p.Lys4499Gln)
c.13483A>C (p.Lys4495Gln)
c.13840A>C (p.Lys4614Gln)
c.13441A>C (p.Lys4481Gln)
c.13429A>C (p.Lys4477Gln)
c.13387A>C (p.Lys4463Gln)
c.13363A>C (p.Lys4455Gln)
c.13333A>C (p.Lys4445Gln)
c.13510A>C (p.Lys4504Gln)
c.13360A>C (p.Lys4454Gln)
c.10060A>C (p.Lys3354Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916407T=CA1826037113PLECc.13546A= (p.Lys4516=)
c.13465A= (p.Lys4489=)
c.13132A= (p.Lys4378=)
c.13345A= (p.Lys4449=)
c.13414A= (p.Lys4472=)
c.10114A= (p.Lys3372=)
c.13825A= (p.Lys4609=)
c.13348A= (p.Lys4450=)
c.13372A= (p.Lys4458=)
c.13426A= (p.Lys4476=)
c.13318A= (p.Lys4440=)
c.13495A= (p.Lys4499=)
c.13483A= (p.Lys4495=)
c.13840A= (p.Lys4614=)
c.13441A= (p.Lys4481=)
c.13429A= (p.Lys4477=)
c.13387A= (p.Lys4463=)
c.13363A= (p.Lys4455=)
c.13333A= (p.Lys4445=)
c.13510A= (p.Lys4504=)
c.13360A= (p.Lys4454=)
c.10060A= (p.Lys3354=)
8g.143916408G>ACA463526414PLECc.13545C>T (p.Thr4515=)
c.13464C>T (p.Thr4488=)
c.13131C>T (p.Thr4377=)
c.13344C>T (p.Thr4448=)
c.13413C>T (p.Thr4471=)
c.10113C>T (p.Thr3371=)
c.13824C>T (p.Thr4608=)
c.13347C>T (p.Thr4449=)
c.13371C>T (p.Thr4457=)
c.13425C>T (p.Thr4475=)
c.13317C>T (p.Thr4439=)
c.13494C>T (p.Thr4498=)
c.13482C>T (p.Thr4494=)
c.13839C>T (p.Thr4613=)
c.13440C>T (p.Thr4480=)
c.13428C>T (p.Thr4476=)
c.13386C>T (p.Thr4462=)
c.13362C>T (p.Thr4454=)
c.13332C>T (p.Thr4444=)
c.13509C>T (p.Thr4503=)
c.13359C>T (p.Thr4453=)
c.10059C>T (p.Thr3353=)
 gnomAD v4
8g.143916408G>CCA463526415PLECc.13545C>G (p.Thr4515=)
c.13464C>G (p.Thr4488=)
c.13131C>G (p.Thr4377=)
c.13344C>G (p.Thr4448=)
c.13413C>G (p.Thr4471=)
c.10113C>G (p.Thr3371=)
c.13824C>G (p.Thr4608=)
c.13347C>G (p.Thr4449=)
c.13371C>G (p.Thr4457=)
c.13425C>G (p.Thr4475=)
c.13317C>G (p.Thr4439=)
c.13494C>G (p.Thr4498=)
c.13482C>G (p.Thr4494=)
c.13839C>G (p.Thr4613=)
c.13440C>G (p.Thr4480=)
c.13428C>G (p.Thr4476=)
c.13386C>G (p.Thr4462=)
c.13362C>G (p.Thr4454=)
c.13332C>G (p.Thr4444=)
c.13509C>G (p.Thr4503=)
c.13359C>G (p.Thr4453=)
c.10059C>G (p.Thr3353=)
8g.143916408G>TCA463526417PLECc.13545C>A (p.Thr4515=)
c.13464C>A (p.Thr4488=)
c.13131C>A (p.Thr4377=)
c.13344C>A (p.Thr4448=)
c.13413C>A (p.Thr4471=)
c.10113C>A (p.Thr3371=)
c.13824C>A (p.Thr4608=)
c.13347C>A (p.Thr4449=)
c.13371C>A (p.Thr4457=)
c.13425C>A (p.Thr4475=)
c.13317C>A (p.Thr4439=)
c.13494C>A (p.Thr4498=)
c.13482C>A (p.Thr4494=)
c.13839C>A (p.Thr4613=)
c.13440C>A (p.Thr4480=)
c.13428C>A (p.Thr4476=)
c.13386C>A (p.Thr4462=)
c.13362C>A (p.Thr4454=)
c.13332C>A (p.Thr4444=)
c.13509C>A (p.Thr4503=)
c.13359C>A (p.Thr4453=)
c.10059C>A (p.Thr3353=)
8g.143916409G>ACA372474568PLECc.13544C>T (p.Thr4515Ile)
c.13463C>T (p.Thr4488Ile)
c.13130C>T (p.Thr4377Ile)
c.13343C>T (p.Thr4448Ile)
c.13412C>T (p.Thr4471Ile)
c.10112C>T (p.Thr3371Ile)
c.13823C>T (p.Thr4608Ile)
c.13346C>T (p.Thr4449Ile)
c.13370C>T (p.Thr4457Ile)
c.13424C>T (p.Thr4475Ile)
c.13316C>T (p.Thr4439Ile)
c.13493C>T (p.Thr4498Ile)
c.13481C>T (p.Thr4494Ile)
c.13838C>T (p.Thr4613Ile)
c.13439C>T (p.Thr4480Ile)
c.13427C>T (p.Thr4476Ile)
c.13385C>T (p.Thr4462Ile)
c.13361C>T (p.Thr4454Ile)
c.13331C>T (p.Thr4444Ile)
c.13508C>T (p.Thr4503Ile)
c.13358C>T (p.Thr4453Ile)
c.10058C>T (p.Thr3353Ile)
 gnomAD v4
8g.143916409G>CCA372474566PLECc.13544C>G (p.Thr4515Ser)
c.13463C>G (p.Thr4488Ser)
c.13130C>G (p.Thr4377Ser)
c.13343C>G (p.Thr4448Ser)
c.13412C>G (p.Thr4471Ser)
c.10112C>G (p.Thr3371Ser)
c.13823C>G (p.Thr4608Ser)
c.13346C>G (p.Thr4449Ser)
c.13370C>G (p.Thr4457Ser)
c.13424C>G (p.Thr4475Ser)
c.13316C>G (p.Thr4439Ser)
c.13493C>G (p.Thr4498Ser)
c.13481C>G (p.Thr4494Ser)
c.13838C>G (p.Thr4613Ser)
c.13439C>G (p.Thr4480Ser)
c.13427C>G (p.Thr4476Ser)
c.13385C>G (p.Thr4462Ser)
c.13361C>G (p.Thr4454Ser)
c.13331C>G (p.Thr4444Ser)
c.13508C>G (p.Thr4503Ser)
c.13358C>G (p.Thr4453Ser)
c.10058C>G (p.Thr3353Ser)
 ClinVar
8g.143916409G>TCA372474564PLECc.13544C>A (p.Thr4515Asn)
c.13463C>A (p.Thr4488Asn)
c.13130C>A (p.Thr4377Asn)
c.13343C>A (p.Thr4448Asn)
c.13412C>A (p.Thr4471Asn)
c.10112C>A (p.Thr3371Asn)
c.13823C>A (p.Thr4608Asn)
c.13346C>A (p.Thr4449Asn)
c.13370C>A (p.Thr4457Asn)
c.13424C>A (p.Thr4475Asn)
c.13316C>A (p.Thr4439Asn)
c.13493C>A (p.Thr4498Asn)
c.13481C>A (p.Thr4494Asn)
c.13838C>A (p.Thr4613Asn)
c.13439C>A (p.Thr4480Asn)
c.13427C>A (p.Thr4476Asn)
c.13385C>A (p.Thr4462Asn)
c.13361C>A (p.Thr4454Asn)
c.13331C>A (p.Thr4444Asn)
c.13508C>A (p.Thr4503Asn)
c.13358C>A (p.Thr4453Asn)
c.10058C>A (p.Thr3353Asn)
8g.143916410T>ACA372474570PLECc.13543A>T (p.Thr4515Ser)
c.13462A>T (p.Thr4488Ser)
c.13129A>T (p.Thr4377Ser)
c.13342A>T (p.Thr4448Ser)
c.13411A>T (p.Thr4471Ser)
c.10111A>T (p.Thr3371Ser)
c.13822A>T (p.Thr4608Ser)
c.13345A>T (p.Thr4449Ser)
c.13369A>T (p.Thr4457Ser)
c.13423A>T (p.Thr4475Ser)
c.13315A>T (p.Thr4439Ser)
c.13492A>T (p.Thr4498Ser)
c.13480A>T (p.Thr4494Ser)
c.13837A>T (p.Thr4613Ser)
c.13438A>T (p.Thr4480Ser)
c.13426A>T (p.Thr4476Ser)
c.13384A>T (p.Thr4462Ser)
c.13360A>T (p.Thr4454Ser)
c.13330A>T (p.Thr4444Ser)
c.13507A>T (p.Thr4503Ser)
c.13357A>T (p.Thr4453Ser)
c.10057A>T (p.Thr3353Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143916410T>CCA372474572PLECc.13543A>G (p.Thr4515Ala)
c.13462A>G (p.Thr4488Ala)
c.13129A>G (p.Thr4377Ala)
c.13342A>G (p.Thr4448Ala)
c.13411A>G (p.Thr4471Ala)
c.10111A>G (p.Thr3371Ala)
c.13822A>G (p.Thr4608Ala)
c.13345A>G (p.Thr4449Ala)
c.13369A>G (p.Thr4457Ala)
c.13423A>G (p.Thr4475Ala)
c.13315A>G (p.Thr4439Ala)
c.13492A>G (p.Thr4498Ala)
c.13480A>G (p.Thr4494Ala)
c.13837A>G (p.Thr4613Ala)
c.13438A>G (p.Thr4480Ala)
c.13426A>G (p.Thr4476Ala)
c.13384A>G (p.Thr4462Ala)
c.13360A>G (p.Thr4454Ala)
c.13330A>G (p.Thr4444Ala)
c.13507A>G (p.Thr4503Ala)
c.13357A>G (p.Thr4453Ala)
c.10057A>G (p.Thr3353Ala)
 gnomAD v4
8g.143916410T>GCA372474574PLECc.13543A>C (p.Thr4515Pro)
c.13462A>C (p.Thr4488Pro)
c.13129A>C (p.Thr4377Pro)
c.13342A>C (p.Thr4448Pro)
c.13411A>C (p.Thr4471Pro)
c.10111A>C (p.Thr3371Pro)
c.13822A>C (p.Thr4608Pro)
c.13345A>C (p.Thr4449Pro)
c.13369A>C (p.Thr4457Pro)
c.13423A>C (p.Thr4475Pro)
c.13315A>C (p.Thr4439Pro)
c.13492A>C (p.Thr4498Pro)
c.13480A>C (p.Thr4494Pro)
c.13837A>C (p.Thr4613Pro)
c.13438A>C (p.Thr4480Pro)
c.13426A>C (p.Thr4476Pro)
c.13384A>C (p.Thr4462Pro)
c.13360A>C (p.Thr4454Pro)
c.13330A>C (p.Thr4444Pro)
c.13507A>C (p.Thr4503Pro)
c.13357A>C (p.Thr4453Pro)
c.10057A>C (p.Thr3353Pro)
8g.143916410T=CA1826037118PLECc.13543A= (p.Thr4515=)
c.13462A= (p.Thr4488=)
c.13129A= (p.Thr4377=)
c.13342A= (p.Thr4448=)
c.13411A= (p.Thr4471=)
c.10111A= (p.Thr3371=)
c.13822A= (p.Thr4608=)
c.13345A= (p.Thr4449=)
c.13369A= (p.Thr4457=)
c.13423A= (p.Thr4475=)
c.13315A= (p.Thr4439=)
c.13492A= (p.Thr4498=)
c.13480A= (p.Thr4494=)
c.13837A= (p.Thr4613=)
c.13438A= (p.Thr4480=)
c.13426A= (p.Thr4476=)
c.13384A= (p.Thr4462=)
c.13360A= (p.Thr4454=)
c.13330A= (p.Thr4444=)
c.13507A= (p.Thr4503=)
c.13357A= (p.Thr4453=)
c.10057A= (p.Thr3353=)
8g.143916411G>ACA463526423PLECc.13542C>T (p.Ser4514=)
c.13461C>T (p.Ser4487=)
c.13128C>T (p.Ser4376=)
c.13341C>T (p.Ser4447=)
c.13410C>T (p.Ser4470=)
c.10110C>T (p.Ser3370=)
c.13821C>T (p.Ser4607=)
c.13344C>T (p.Ser4448=)
c.13368C>T (p.Ser4456=)
c.13422C>T (p.Ser4474=)
c.13314C>T (p.Ser4438=)
c.13491C>T (p.Ser4497=)
c.13479C>T (p.Ser4493=)
c.13836C>T (p.Ser4612=)
c.13437C>T (p.Ser4479=)
c.13425C>T (p.Ser4475=)
c.13383C>T (p.Ser4461=)
c.13359C>T (p.Ser4453=)
c.13329C>T (p.Ser4443=)
c.13506C>T (p.Ser4502=)
c.13356C>T (p.Ser4452=)
c.10056C>T (p.Ser3352=)
8g.143916411G>CCA463526424PLECc.13542C>G (p.Ser4514=)
c.13461C>G (p.Ser4487=)
c.13128C>G (p.Ser4376=)
c.13341C>G (p.Ser4447=)
c.13410C>G (p.Ser4470=)
c.10110C>G (p.Ser3370=)
c.13821C>G (p.Ser4607=)
c.13344C>G (p.Ser4448=)
c.13368C>G (p.Ser4456=)
c.13422C>G (p.Ser4474=)
c.13314C>G (p.Ser4438=)
c.13491C>G (p.Ser4497=)
c.13479C>G (p.Ser4493=)
c.13836C>G (p.Ser4612=)
c.13437C>G (p.Ser4479=)
c.13425C>G (p.Ser4475=)
c.13383C>G (p.Ser4461=)
c.13359C>G (p.Ser4453=)
c.13329C>G (p.Ser4443=)
c.13506C>G (p.Ser4502=)
c.13356C>G (p.Ser4452=)
c.10056C>G (p.Ser3352=)
8g.143916411G>TCA463526431PLECc.13542C>A (p.Ser4514=)
c.13461C>A (p.Ser4487=)
c.13128C>A (p.Ser4376=)
c.13341C>A (p.Ser4447=)
c.13410C>A (p.Ser4470=)
c.10110C>A (p.Ser3370=)
c.13821C>A (p.Ser4607=)
c.13344C>A (p.Ser4448=)
c.13368C>A (p.Ser4456=)
c.13422C>A (p.Ser4474=)
c.13314C>A (p.Ser4438=)
c.13491C>A (p.Ser4497=)
c.13479C>A (p.Ser4493=)
c.13836C>A (p.Ser4612=)
c.13437C>A (p.Ser4479=)
c.13425C>A (p.Ser4475=)
c.13383C>A (p.Ser4461=)
c.13359C>A (p.Ser4453=)
c.13329C>A (p.Ser4443=)
c.13506C>A (p.Ser4502=)
c.13356C>A (p.Ser4452=)
c.10056C>A (p.Ser3352=)
 gnomAD v4
8g.143916412G>ACA372474576PLECc.13541C>T (p.Ser4514Phe)
c.13460C>T (p.Ser4487Phe)
c.13127C>T (p.Ser4376Phe)
c.13340C>T (p.Ser4447Phe)
c.13409C>T (p.Ser4470Phe)
c.10109C>T (p.Ser3370Phe)
c.13820C>T (p.Ser4607Phe)
c.13343C>T (p.Ser4448Phe)
c.13367C>T (p.Ser4456Phe)
c.13421C>T (p.Ser4474Phe)
c.13313C>T (p.Ser4438Phe)
c.13490C>T (p.Ser4497Phe)
c.13478C>T (p.Ser4493Phe)
c.13835C>T (p.Ser4612Phe)
c.13436C>T (p.Ser4479Phe)
c.13424C>T (p.Ser4475Phe)
c.13382C>T (p.Ser4461Phe)
c.13358C>T (p.Ser4453Phe)
c.13328C>T (p.Ser4443Phe)
c.13505C>T (p.Ser4502Phe)
c.13355C>T (p.Ser4452Phe)
c.10055C>T (p.Ser3352Phe)
 gnomAD v4
8g.143916412G>CCA372474578PLECc.13541C>G (p.Ser4514Cys)
c.13460C>G (p.Ser4487Cys)
c.13127C>G (p.Ser4376Cys)
c.13340C>G (p.Ser4447Cys)
c.13409C>G (p.Ser4470Cys)
c.10109C>G (p.Ser3370Cys)
c.13820C>G (p.Ser4607Cys)
c.13343C>G (p.Ser4448Cys)
c.13367C>G (p.Ser4456Cys)
c.13421C>G (p.Ser4474Cys)
c.13313C>G (p.Ser4438Cys)
c.13490C>G (p.Ser4497Cys)
c.13478C>G (p.Ser4493Cys)
c.13835C>G (p.Ser4612Cys)
c.13436C>G (p.Ser4479Cys)
c.13424C>G (p.Ser4475Cys)
c.13382C>G (p.Ser4461Cys)
c.13358C>G (p.Ser4453Cys)
c.13328C>G (p.Ser4443Cys)
c.13505C>G (p.Ser4502Cys)
c.13355C>G (p.Ser4452Cys)
c.10055C>G (p.Ser3352Cys)
 dbSNP gnomAD v4
8g.143916412G=CA1826037119PLECc.13541C= (p.Ser4514=)
c.13460C= (p.Ser4487=)
c.13127C= (p.Ser4376=)
c.13340C= (p.Ser4447=)
c.13409C= (p.Ser4470=)
c.10109C= (p.Ser3370=)
c.13820C= (p.Ser4607=)
c.13343C= (p.Ser4448=)
c.13367C= (p.Ser4456=)
c.13421C= (p.Ser4474=)
c.13313C= (p.Ser4438=)
c.13490C= (p.Ser4497=)
c.13478C= (p.Ser4493=)
c.13835C= (p.Ser4612=)
c.13436C= (p.Ser4479=)
c.13424C= (p.Ser4475=)
c.13382C= (p.Ser4461=)
c.13358C= (p.Ser4453=)
c.13328C= (p.Ser4443=)
c.13505C= (p.Ser4502=)
c.13355C= (p.Ser4452=)
c.10055C= (p.Ser3352=)
8g.143916412G>TCA372474580PLECc.13541C>A (p.Ser4514Tyr)
c.13460C>A (p.Ser4487Tyr)
c.13127C>A (p.Ser4376Tyr)
c.13340C>A (p.Ser4447Tyr)
c.13409C>A (p.Ser4470Tyr)
c.10109C>A (p.Ser3370Tyr)
c.13820C>A (p.Ser4607Tyr)
c.13343C>A (p.Ser4448Tyr)
c.13367C>A (p.Ser4456Tyr)
c.13421C>A (p.Ser4474Tyr)
c.13313C>A (p.Ser4438Tyr)
c.13490C>A (p.Ser4497Tyr)
c.13478C>A (p.Ser4493Tyr)
c.13835C>A (p.Ser4612Tyr)
c.13436C>A (p.Ser4479Tyr)
c.13424C>A (p.Ser4475Tyr)
c.13382C>A (p.Ser4461Tyr)
c.13358C>A (p.Ser4453Tyr)
c.13328C>A (p.Ser4443Tyr)
c.13505C>A (p.Ser4502Tyr)
c.13355C>A (p.Ser4452Tyr)
c.10055C>A (p.Ser3352Tyr)
8g.143916413A>CCA372474586PLECc.13540T>G (p.Ser4514Ala)
c.13459T>G (p.Ser4487Ala)
c.13126T>G (p.Ser4376Ala)
c.13339T>G (p.Ser4447Ala)
c.13408T>G (p.Ser4470Ala)
c.10108T>G (p.Ser3370Ala)
c.13819T>G (p.Ser4607Ala)
c.13342T>G (p.Ser4448Ala)
c.13366T>G (p.Ser4456Ala)
c.13420T>G (p.Ser4474Ala)
c.13312T>G (p.Ser4438Ala)
c.13489T>G (p.Ser4497Ala)
c.13477T>G (p.Ser4493Ala)
c.13834T>G (p.Ser4612Ala)
c.13435T>G (p.Ser4479Ala)
c.13423T>G (p.Ser4475Ala)
c.13381T>G (p.Ser4461Ala)
c.13357T>G (p.Ser4453Ala)
c.13327T>G (p.Ser4443Ala)
c.13504T>G (p.Ser4502Ala)
c.13354T>G (p.Ser4452Ala)
c.10054T>G (p.Ser3352Ala)
8g.143916413A>GCA372474582PLECc.13540T>C (p.Ser4514Pro)
c.13459T>C (p.Ser4487Pro)
c.13126T>C (p.Ser4376Pro)
c.13339T>C (p.Ser4447Pro)
c.13408T>C (p.Ser4470Pro)
c.10108T>C (p.Ser3370Pro)
c.13819T>C (p.Ser4607Pro)
c.13342T>C (p.Ser4448Pro)
c.13366T>C (p.Ser4456Pro)
c.13420T>C (p.Ser4474Pro)
c.13312T>C (p.Ser4438Pro)
c.13489T>C (p.Ser4497Pro)
c.13477T>C (p.Ser4493Pro)
c.13834T>C (p.Ser4612Pro)
c.13435T>C (p.Ser4479Pro)
c.13423T>C (p.Ser4475Pro)
c.13381T>C (p.Ser4461Pro)
c.13357T>C (p.Ser4453Pro)
c.13327T>C (p.Ser4443Pro)
c.13504T>C (p.Ser4502Pro)
c.13354T>C (p.Ser4452Pro)
c.10054T>C (p.Ser3352Pro)
8g.143916413A>TCA372474584PLECc.13540T>A (p.Ser4514Thr)
c.13459T>A (p.Ser4487Thr)
c.13126T>A (p.Ser4376Thr)
c.13339T>A (p.Ser4447Thr)
c.13408T>A (p.Ser4470Thr)
c.10108T>A (p.Ser3370Thr)
c.13819T>A (p.Ser4607Thr)
c.13342T>A (p.Ser4448Thr)
c.13366T>A (p.Ser4456Thr)
c.13420T>A (p.Ser4474Thr)
c.13312T>A (p.Ser4438Thr)
c.13489T>A (p.Ser4497Thr)
c.13477T>A (p.Ser4493Thr)
c.13834T>A (p.Ser4612Thr)
c.13435T>A (p.Ser4479Thr)
c.13423T>A (p.Ser4475Thr)
c.13381T>A (p.Ser4461Thr)
c.13357T>A (p.Ser4453Thr)
c.13327T>A (p.Ser4443Thr)
c.13504T>A (p.Ser4502Thr)
c.13354T>A (p.Ser4452Thr)
c.10054T>A (p.Ser3352Thr)
8g.143916414C>ACA372474587PLECc.13539G>T (p.Gln4513His)
c.13458G>T (p.Gln4486His)
c.13125G>T (p.Gln4375His)
c.13338G>T (p.Gln4446His)
c.13407G>T (p.Gln4469His)
c.10107G>T (p.Gln3369His)
c.13818G>T (p.Gln4606His)
c.13341G>T (p.Gln4447His)
c.13365G>T (p.Gln4455His)
c.13419G>T (p.Gln4473His)
c.13311G>T (p.Gln4437His)
c.13488G>T (p.Gln4496His)
c.13476G>T (p.Gln4492His)
c.13833G>T (p.Gln4611His)
c.13434G>T (p.Gln4478His)
c.13422G>T (p.Gln4474His)
c.13380G>T (p.Gln4460His)
c.13356G>T (p.Gln4452His)
c.13326G>T (p.Gln4442His)
c.13503G>T (p.Gln4501His)
c.13353G>T (p.Gln4451His)
c.10053G>T (p.Gln3351His)
8g.143916414C>GCA372474589PLECc.13539G>C (p.Gln4513His)
c.13458G>C (p.Gln4486His)
c.13125G>C (p.Gln4375His)
c.13338G>C (p.Gln4446His)
c.13407G>C (p.Gln4469His)
c.10107G>C (p.Gln3369His)
c.13818G>C (p.Gln4606His)
c.13341G>C (p.Gln4447His)
c.13365G>C (p.Gln4455His)
c.13419G>C (p.Gln4473His)
c.13311G>C (p.Gln4437His)
c.13488G>C (p.Gln4496His)
c.13476G>C (p.Gln4492His)
c.13833G>C (p.Gln4611His)
c.13434G>C (p.Gln4478His)
c.13422G>C (p.Gln4474His)
c.13380G>C (p.Gln4460His)
c.13356G>C (p.Gln4452His)
c.13326G>C (p.Gln4442His)
c.13503G>C (p.Gln4501His)
c.13353G>C (p.Gln4451His)
c.10053G>C (p.Gln3351His)
8g.143916414C>TCA463526439PLECc.13539G>A (p.Gln4513=)
c.13458G>A (p.Gln4486=)
c.13125G>A (p.Gln4375=)
c.13338G>A (p.Gln4446=)
c.13407G>A (p.Gln4469=)
c.10107G>A (p.Gln3369=)
c.13818G>A (p.Gln4606=)
c.13341G>A (p.Gln4447=)
c.13365G>A (p.Gln4455=)
c.13419G>A (p.Gln4473=)
c.13311G>A (p.Gln4437=)
c.13488G>A (p.Gln4496=)
c.13476G>A (p.Gln4492=)
c.13833G>A (p.Gln4611=)
c.13434G>A (p.Gln4478=)
c.13422G>A (p.Gln4474=)
c.13380G>A (p.Gln4460=)
c.13356G>A (p.Gln4452=)
c.13326G>A (p.Gln4442=)
c.13503G>A (p.Gln4501=)
c.13353G>A (p.Gln4451=)
c.10053G>A (p.Gln3351=)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916414_143916415delCA2562034709PLECc.13538_13539del (p.Gln4513LeufsTer?)
c.13457_13458del (p.Gln4486LeufsTer?)
c.13124_13125del (p.Gln4375LeufsTer?)
c.13337_13338del (p.Gln4446LeufsTer?)
c.13406_13407del (p.Gln4469LeufsTer?)
c.10106_10107del (p.Gln3369LeufsTer?)
c.13817_13818del (p.Gln4606LeufsTer?)
c.13340_13341del (p.Gln4447LeufsTer?)
c.13364_13365del (p.Gln4455LeufsTer?)
c.13418_13419del (p.Gln4473LeufsTer?)
c.13310_13311del (p.Gln4437LeufsTer?)
c.13487_13488del (p.Gln4496LeufsTer?)
c.13475_13476del (p.Gln4492LeufsTer?)
c.13832_13833del (p.Gln4611LeufsTer?)
c.13433_13434del (p.Gln4478LeufsTer?)
c.13421_13422del (p.Gln4474LeufsTer?)
c.13379_13380del (p.Gln4460LeufsTer?)
c.13355_13356del (p.Gln4452LeufsTer?)
c.13325_13326del (p.Gln4442LeufsTer?)
c.13502_13503del (p.Gln4501LeufsTer?)
c.13352_13353del (p.Gln4451LeufsTer?)
c.10052_10053del (p.Gln3351LeufsTer?)
8g.143916414_143916417delCA2569737699PLECc.13536_13539del (p.Gln4513ProfsTer?)
c.13455_13458del (p.Gln4486ProfsTer?)
c.13122_13125del (p.Gln4375ProfsTer?)
c.13335_13338del (p.Gln4446ProfsTer?)
c.13404_13407del (p.Gln4469ProfsTer?)
c.10104_10107del (p.Gln3369ProfsTer?)
c.13815_13818del (p.Gln4606ProfsTer?)
c.13338_13341del (p.Gln4447ProfsTer?)
c.13362_13365del (p.Gln4455ProfsTer?)
c.13416_13419del (p.Gln4473ProfsTer?)
c.13308_13311del (p.Gln4437ProfsTer?)
c.13485_13488del (p.Gln4496ProfsTer?)
c.13473_13476del (p.Gln4492ProfsTer?)
c.13830_13833del (p.Gln4611ProfsTer?)
c.13431_13434del (p.Gln4478ProfsTer?)
c.13419_13422del (p.Gln4474ProfsTer?)
c.13377_13380del (p.Gln4460ProfsTer?)
c.13353_13356del (p.Gln4452ProfsTer?)
c.13323_13326del (p.Gln4442ProfsTer?)
c.13500_13503del (p.Gln4501ProfsTer?)
c.13350_13353del (p.Gln4451ProfsTer?)
c.10050_10053del (p.Gln3351ProfsTer?)
8g.143916415T>ACA372474591PLECc.13538A>T (p.Gln4513Leu)
c.13457A>T (p.Gln4486Leu)
c.13124A>T (p.Gln4375Leu)
c.13337A>T (p.Gln4446Leu)
c.13406A>T (p.Gln4469Leu)
c.10106A>T (p.Gln3369Leu)
c.13817A>T (p.Gln4606Leu)
c.13340A>T (p.Gln4447Leu)
c.13364A>T (p.Gln4455Leu)
c.13418A>T (p.Gln4473Leu)
c.13310A>T (p.Gln4437Leu)
c.13487A>T (p.Gln4496Leu)
c.13475A>T (p.Gln4492Leu)
c.13832A>T (p.Gln4611Leu)
c.13433A>T (p.Gln4478Leu)
c.13421A>T (p.Gln4474Leu)
c.13379A>T (p.Gln4460Leu)
c.13355A>T (p.Gln4452Leu)
c.13325A>T (p.Gln4442Leu)
c.13502A>T (p.Gln4501Leu)
c.13352A>T (p.Gln4451Leu)
c.10052A>T (p.Gln3351Leu)
8g.143916415T>CCA4923814PLECc.13538A>G (p.Gln4513Arg)
c.13457A>G (p.Gln4486Arg)
c.13124A>G (p.Gln4375Arg)
c.13337A>G (p.Gln4446Arg)
c.13406A>G (p.Gln4469Arg)
c.10106A>G (p.Gln3369Arg)
c.13817A>G (p.Gln4606Arg)
c.13340A>G (p.Gln4447Arg)
c.13364A>G (p.Gln4455Arg)
c.13418A>G (p.Gln4473Arg)
c.13310A>G (p.Gln4437Arg)
c.13487A>G (p.Gln4496Arg)
c.13475A>G (p.Gln4492Arg)
c.13832A>G (p.Gln4611Arg)
c.13433A>G (p.Gln4478Arg)
c.13421A>G (p.Gln4474Arg)
c.13379A>G (p.Gln4460Arg)
c.13355A>G (p.Gln4452Arg)
c.13325A>G (p.Gln4442Arg)
c.13502A>G (p.Gln4501Arg)
c.13352A>G (p.Gln4451Arg)
c.10052A>G (p.Gln3351Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916415T>GCA372474594PLECc.13538A>C (p.Gln4513Pro)
c.13457A>C (p.Gln4486Pro)
c.13124A>C (p.Gln4375Pro)
c.13337A>C (p.Gln4446Pro)
c.13406A>C (p.Gln4469Pro)
c.10106A>C (p.Gln3369Pro)
c.13817A>C (p.Gln4606Pro)
c.13340A>C (p.Gln4447Pro)
c.13364A>C (p.Gln4455Pro)
c.13418A>C (p.Gln4473Pro)
c.13310A>C (p.Gln4437Pro)
c.13487A>C (p.Gln4496Pro)
c.13475A>C (p.Gln4492Pro)
c.13832A>C (p.Gln4611Pro)
c.13433A>C (p.Gln4478Pro)
c.13421A>C (p.Gln4474Pro)
c.13379A>C (p.Gln4460Pro)
c.13355A>C (p.Gln4452Pro)
c.13325A>C (p.Gln4442Pro)
c.13502A>C (p.Gln4501Pro)
c.13352A>C (p.Gln4451Pro)
c.10052A>C (p.Gln3351Pro)
 gnomAD v4
8g.143916415T=CA1826037121PLECc.13538A= (p.Gln4513=)
c.13457A= (p.Gln4486=)
c.13124A= (p.Gln4375=)
c.13337A= (p.Gln4446=)
c.13406A= (p.Gln4469=)
c.10106A= (p.Gln3369=)
c.13817A= (p.Gln4606=)
c.13340A= (p.Gln4447=)
c.13364A= (p.Gln4455=)
c.13418A= (p.Gln4473=)
c.13310A= (p.Gln4437=)
c.13487A= (p.Gln4496=)
c.13475A= (p.Gln4492=)
c.13832A= (p.Gln4611=)
c.13433A= (p.Gln4478=)
c.13421A= (p.Gln4474=)
c.13379A= (p.Gln4460=)
c.13355A= (p.Gln4452=)
c.13325A= (p.Gln4442=)
c.13502A= (p.Gln4501=)
c.13352A= (p.Gln4451=)
c.10052A= (p.Gln3351=)
8g.143916416G>ACA372474596PLECc.13537C>T (p.Gln4513Ter)
c.13456C>T (p.Gln4486Ter)
c.13123C>T (p.Gln4375Ter)
c.13336C>T (p.Gln4446Ter)
c.13405C>T (p.Gln4469Ter)
c.10105C>T (p.Gln3369Ter)
c.13816C>T (p.Gln4606Ter)
c.13339C>T (p.Gln4447Ter)
c.13363C>T (p.Gln4455Ter)
c.13417C>T (p.Gln4473Ter)
c.13309C>T (p.Gln4437Ter)
c.13486C>T (p.Gln4496Ter)
c.13474C>T (p.Gln4492Ter)
c.13831C>T (p.Gln4611Ter)
c.13432C>T (p.Gln4478Ter)
c.13420C>T (p.Gln4474Ter)
c.13378C>T (p.Gln4460Ter)
c.13354C>T (p.Gln4452Ter)
c.13324C>T (p.Gln4442Ter)
c.13501C>T (p.Gln4501Ter)
c.13351C>T (p.Gln4451Ter)
c.10051C>T (p.Gln3351Ter)
 dbSNP
8g.143916416G>CCA372474601PLECc.13537C>G (p.Gln4513Glu)
c.13456C>G (p.Gln4486Glu)
c.13123C>G (p.Gln4375Glu)
c.13336C>G (p.Gln4446Glu)
c.13405C>G (p.Gln4469Glu)
c.10105C>G (p.Gln3369Glu)
c.13816C>G (p.Gln4606Glu)
c.13339C>G (p.Gln4447Glu)
c.13363C>G (p.Gln4455Glu)
c.13417C>G (p.Gln4473Glu)
c.13309C>G (p.Gln4437Glu)
c.13486C>G (p.Gln4496Glu)
c.13474C>G (p.Gln4492Glu)
c.13831C>G (p.Gln4611Glu)
c.13432C>G (p.Gln4478Glu)
c.13420C>G (p.Gln4474Glu)
c.13378C>G (p.Gln4460Glu)
c.13354C>G (p.Gln4452Glu)
c.13324C>G (p.Gln4442Glu)
c.13501C>G (p.Gln4501Glu)
c.13351C>G (p.Gln4451Glu)
c.10051C>G (p.Gln3351Glu)
8g.143916416G=CA1826037123PLECc.13537C= (p.Gln4513=)
c.13456C= (p.Gln4486=)
c.13123C= (p.Gln4375=)
c.13336C= (p.Gln4446=)
c.13405C= (p.Gln4469=)
c.10105C= (p.Gln3369=)
c.13816C= (p.Gln4606=)
c.13339C= (p.Gln4447=)
c.13363C= (p.Gln4455=)
c.13417C= (p.Gln4473=)
c.13309C= (p.Gln4437=)
c.13486C= (p.Gln4496=)
c.13474C= (p.Gln4492=)
c.13831C= (p.Gln4611=)
c.13432C= (p.Gln4478=)
c.13420C= (p.Gln4474=)
c.13378C= (p.Gln4460=)
c.13354C= (p.Gln4452=)
c.13324C= (p.Gln4442=)
c.13501C= (p.Gln4501=)
c.13351C= (p.Gln4451=)
c.10051C= (p.Gln3351=)
8g.143916416G>TCA372474599PLECc.13537C>A (p.Gln4513Lys)
c.13456C>A (p.Gln4486Lys)
c.13123C>A (p.Gln4375Lys)
c.13336C>A (p.Gln4446Lys)
c.13405C>A (p.Gln4469Lys)
c.10105C>A (p.Gln3369Lys)
c.13816C>A (p.Gln4606Lys)
c.13339C>A (p.Gln4447Lys)
c.13363C>A (p.Gln4455Lys)
c.13417C>A (p.Gln4473Lys)
c.13309C>A (p.Gln4437Lys)
c.13486C>A (p.Gln4496Lys)
c.13474C>A (p.Gln4492Lys)
c.13831C>A (p.Gln4611Lys)
c.13432C>A (p.Gln4478Lys)
c.13420C>A (p.Gln4474Lys)
c.13378C>A (p.Gln4460Lys)
c.13354C>A (p.Gln4452Lys)
c.13324C>A (p.Gln4442Lys)
c.13501C>A (p.Gln4501Lys)
c.13351C>A (p.Gln4451Lys)
c.10051C>A (p.Gln3351Lys)
8g.143916417C>ACA463526447PLECc.13536G>T (p.Ala4512=)
c.13455G>T (p.Ala4485=)
c.13122G>T (p.Ala4374=)
c.13335G>T (p.Ala4445=)
c.13404G>T (p.Ala4468=)
c.10104G>T (p.Ala3368=)
c.13815G>T (p.Ala4605=)
c.13338G>T (p.Ala4446=)
c.13362G>T (p.Ala4454=)
c.13416G>T (p.Ala4472=)
c.13308G>T (p.Ala4436=)
c.13485G>T (p.Ala4495=)
c.13473G>T (p.Ala4491=)
c.13830G>T (p.Ala4610=)
c.13431G>T (p.Ala4477=)
c.13419G>T (p.Ala4473=)
c.13377G>T (p.Ala4459=)
c.13353G>T (p.Ala4451=)
c.13323G>T (p.Ala4441=)
c.13500G>T (p.Ala4500=)
c.13350G>T (p.Ala4450=)
c.10050G>T (p.Ala3350=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143916417C=CA1826037128PLECc.13536G= (p.Ala4512=)
c.13455G= (p.Ala4485=)
c.13122G= (p.Ala4374=)
c.13335G= (p.Ala4445=)
c.13404G= (p.Ala4468=)
c.10104G= (p.Ala3368=)
c.13815G= (p.Ala4605=)
c.13338G= (p.Ala4446=)
c.13362G= (p.Ala4454=)
c.13416G= (p.Ala4472=)
c.13308G= (p.Ala4436=)
c.13485G= (p.Ala4495=)
c.13473G= (p.Ala4491=)
c.13830G= (p.Ala4610=)
c.13431G= (p.Ala4477=)
c.13419G= (p.Ala4473=)
c.13377G= (p.Ala4459=)
c.13353G= (p.Ala4451=)
c.13323G= (p.Ala4441=)
c.13500G= (p.Ala4500=)
c.13350G= (p.Ala4450=)
c.10050G= (p.Ala3350=)
8g.143916417C>GCA463526445PLECc.13536G>C (p.Ala4512=)
c.13455G>C (p.Ala4485=)
c.13122G>C (p.Ala4374=)
c.13335G>C (p.Ala4445=)
c.13404G>C (p.Ala4468=)
c.10104G>C (p.Ala3368=)
c.13815G>C (p.Ala4605=)
c.13338G>C (p.Ala4446=)
c.13362G>C (p.Ala4454=)
c.13416G>C (p.Ala4472=)
c.13308G>C (p.Ala4436=)
c.13485G>C (p.Ala4495=)
c.13473G>C (p.Ala4491=)
c.13830G>C (p.Ala4610=)
c.13431G>C (p.Ala4477=)
c.13419G>C (p.Ala4473=)
c.13377G>C (p.Ala4459=)
c.13353G>C (p.Ala4451=)
c.13323G>C (p.Ala4441=)
c.13500G>C (p.Ala4500=)
c.13350G>C (p.Ala4450=)
c.10050G>C (p.Ala3350=)
8g.143916417C>TCA4923815PLECc.13536G>A (p.Ala4512=)
c.13455G>A (p.Ala4485=)
c.13122G>A (p.Ala4374=)
c.13335G>A (p.Ala4445=)
c.13404G>A (p.Ala4468=)
c.10104G>A (p.Ala3368=)
c.13815G>A (p.Ala4605=)
c.13338G>A (p.Ala4446=)
c.13362G>A (p.Ala4454=)
c.13416G>A (p.Ala4472=)
c.13308G>A (p.Ala4436=)
c.13485G>A (p.Ala4495=)
c.13473G>A (p.Ala4491=)
c.13830G>A (p.Ala4610=)
c.13431G>A (p.Ala4477=)
c.13419G>A (p.Ala4473=)
c.13377G>A (p.Ala4459=)
c.13353G>A (p.Ala4451=)
c.13323G>A (p.Ala4441=)
c.13500G>A (p.Ala4500=)
c.13350G>A (p.Ala4450=)
c.10050G>A (p.Ala3350=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916418G>ACA4923816PLECc.13535C>T (p.Ala4512Val)
c.13454C>T (p.Ala4485Val)
c.13121C>T (p.Ala4374Val)
c.13334C>T (p.Ala4445Val)
c.13403C>T (p.Ala4468Val)
c.10103C>T (p.Ala3368Val)
c.13814C>T (p.Ala4605Val)
c.13337C>T (p.Ala4446Val)
c.13361C>T (p.Ala4454Val)
c.13415C>T (p.Ala4472Val)
c.13307C>T (p.Ala4436Val)
c.13484C>T (p.Ala4495Val)
c.13472C>T (p.Ala4491Val)
c.13829C>T (p.Ala4610Val)
c.13430C>T (p.Ala4477Val)
c.13418C>T (p.Ala4473Val)
c.13376C>T (p.Ala4459Val)
c.13352C>T (p.Ala4451Val)
c.13322C>T (p.Ala4441Val)
c.13499C>T (p.Ala4500Val)
c.13349C>T (p.Ala4450Val)
c.10049C>T (p.Ala3350Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916418G>CCA372474605PLECc.13535C>G (p.Ala4512Gly)
c.13454C>G (p.Ala4485Gly)
c.13121C>G (p.Ala4374Gly)
c.13334C>G (p.Ala4445Gly)
c.13403C>G (p.Ala4468Gly)
c.10103C>G (p.Ala3368Gly)
c.13814C>G (p.Ala4605Gly)
c.13337C>G (p.Ala4446Gly)
c.13361C>G (p.Ala4454Gly)
c.13415C>G (p.Ala4472Gly)
c.13307C>G (p.Ala4436Gly)
c.13484C>G (p.Ala4495Gly)
c.13472C>G (p.Ala4491Gly)
c.13829C>G (p.Ala4610Gly)
c.13430C>G (p.Ala4477Gly)
c.13418C>G (p.Ala4473Gly)
c.13376C>G (p.Ala4459Gly)
c.13352C>G (p.Ala4451Gly)
c.13322C>G (p.Ala4441Gly)
c.13499C>G (p.Ala4500Gly)
c.13349C>G (p.Ala4450Gly)
c.10049C>G (p.Ala3350Gly)
8g.143916418G=CA1826037133PLECc.13535C= (p.Ala4512=)
c.13454C= (p.Ala4485=)
c.13121C= (p.Ala4374=)
c.13334C= (p.Ala4445=)
c.13403C= (p.Ala4468=)
c.10103C= (p.Ala3368=)
c.13814C= (p.Ala4605=)
c.13337C= (p.Ala4446=)
c.13361C= (p.Ala4454=)
c.13415C= (p.Ala4472=)
c.13307C= (p.Ala4436=)
c.13484C= (p.Ala4495=)
c.13472C= (p.Ala4491=)
c.13829C= (p.Ala4610=)
c.13430C= (p.Ala4477=)
c.13418C= (p.Ala4473=)
c.13376C= (p.Ala4459=)
c.13352C= (p.Ala4451=)
c.13322C= (p.Ala4441=)
c.13499C= (p.Ala4500=)
c.13349C= (p.Ala4450=)
c.10049C= (p.Ala3350=)
8g.143916418G>TCA372474607PLECc.13535C>A (p.Ala4512Glu)
c.13454C>A (p.Ala4485Glu)
c.13121C>A (p.Ala4374Glu)
c.13334C>A (p.Ala4445Glu)
c.13403C>A (p.Ala4468Glu)
c.10103C>A (p.Ala3368Glu)
c.13814C>A (p.Ala4605Glu)
c.13337C>A (p.Ala4446Glu)
c.13361C>A (p.Ala4454Glu)
c.13415C>A (p.Ala4472Glu)
c.13307C>A (p.Ala4436Glu)
c.13484C>A (p.Ala4495Glu)
c.13472C>A (p.Ala4491Glu)
c.13829C>A (p.Ala4610Glu)
c.13430C>A (p.Ala4477Glu)
c.13418C>A (p.Ala4473Glu)
c.13376C>A (p.Ala4459Glu)
c.13352C>A (p.Ala4451Glu)
c.13322C>A (p.Ala4441Glu)
c.13499C>A (p.Ala4500Glu)
c.13349C>A (p.Ala4450Glu)
c.10049C>A (p.Ala3350Glu)
8g.143916419C>ACA372474609PLECc.13534G>T (p.Ala4512Ser)
c.13453G>T (p.Ala4485Ser)
c.13120G>T (p.Ala4374Ser)
c.13333G>T (p.Ala4445Ser)
c.13402G>T (p.Ala4468Ser)
c.10102G>T (p.Ala3368Ser)
c.13813G>T (p.Ala4605Ser)
c.13336G>T (p.Ala4446Ser)
c.13360G>T (p.Ala4454Ser)
c.13414G>T (p.Ala4472Ser)
c.13306G>T (p.Ala4436Ser)
c.13483G>T (p.Ala4495Ser)
c.13471G>T (p.Ala4491Ser)
c.13828G>T (p.Ala4610Ser)
c.13429G>T (p.Ala4477Ser)
c.13417G>T (p.Ala4473Ser)
c.13375G>T (p.Ala4459Ser)
c.13351G>T (p.Ala4451Ser)
c.13321G>T (p.Ala4441Ser)
c.13498G>T (p.Ala4500Ser)
c.13348G>T (p.Ala4450Ser)
c.10048G>T (p.Ala3350Ser)
8g.143916419C=CA1826037143PLECc.13534G= (p.Ala4512=)
c.13453G= (p.Ala4485=)
c.13120G= (p.Ala4374=)
c.13333G= (p.Ala4445=)
c.13402G= (p.Ala4468=)
c.10102G= (p.Ala3368=)
c.13813G= (p.Ala4605=)
c.13336G= (p.Ala4446=)
c.13360G= (p.Ala4454=)
c.13414G= (p.Ala4472=)
c.13306G= (p.Ala4436=)
c.13483G= (p.Ala4495=)
c.13471G= (p.Ala4491=)
c.13828G= (p.Ala4610=)
c.13429G= (p.Ala4477=)
c.13417G= (p.Ala4473=)
c.13375G= (p.Ala4459=)
c.13351G= (p.Ala4451=)
c.13321G= (p.Ala4441=)
c.13498G= (p.Ala4500=)
c.13348G= (p.Ala4450=)
c.10048G= (p.Ala3350=)
8g.143916419C>GCA372474611PLECc.13534G>C (p.Ala4512Pro)
c.13453G>C (p.Ala4485Pro)
c.13120G>C (p.Ala4374Pro)
c.13333G>C (p.Ala4445Pro)
c.13402G>C (p.Ala4468Pro)
c.10102G>C (p.Ala3368Pro)
c.13813G>C (p.Ala4605Pro)
c.13336G>C (p.Ala4446Pro)
c.13360G>C (p.Ala4454Pro)
c.13414G>C (p.Ala4472Pro)
c.13306G>C (p.Ala4436Pro)
c.13483G>C (p.Ala4495Pro)
c.13471G>C (p.Ala4491Pro)
c.13828G>C (p.Ala4610Pro)
c.13429G>C (p.Ala4477Pro)
c.13417G>C (p.Ala4473Pro)
c.13375G>C (p.Ala4459Pro)
c.13351G>C (p.Ala4451Pro)
c.13321G>C (p.Ala4441Pro)
c.13498G>C (p.Ala4500Pro)
c.13348G>C (p.Ala4450Pro)
c.10048G>C (p.Ala3350Pro)
8g.143916419C>TCA146295PLECc.13534G>A (p.Ala4512Thr)
c.13453G>A (p.Ala4485Thr)
c.13120G>A (p.Ala4374Thr)
c.13333G>A (p.Ala4445Thr)
c.13402G>A (p.Ala4468Thr)
c.10102G>A (p.Ala3368Thr)
c.13813G>A (p.Ala4605Thr)
c.13336G>A (p.Ala4446Thr)
c.13360G>A (p.Ala4454Thr)
c.13414G>A (p.Ala4472Thr)
c.13306G>A (p.Ala4436Thr)
c.13483G>A (p.Ala4495Thr)
c.13471G>A (p.Ala4491Thr)
c.13828G>A (p.Ala4610Thr)
c.13429G>A (p.Ala4477Thr)
c.13417G>A (p.Ala4473Thr)
c.13375G>A (p.Ala4459Thr)
c.13351G>A (p.Ala4451Thr)
c.13321G>A (p.Ala4441Thr)
c.13498G>A (p.Ala4500Thr)
c.13348G>A (p.Ala4450Thr)
c.10048G>A (p.Ala3350Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916420G>ACA4923817PLECc.13533C>T (p.Ala4511=)
c.13452C>T (p.Ala4484=)
c.13119C>T (p.Ala4373=)
c.13332C>T (p.Ala4444=)
c.13401C>T (p.Ala4467=)
c.10101C>T (p.Ala3367=)
c.13812C>T (p.Ala4604=)
c.13335C>T (p.Ala4445=)
c.13359C>T (p.Ala4453=)
c.13413C>T (p.Ala4471=)
c.13305C>T (p.Ala4435=)
c.13482C>T (p.Ala4494=)
c.13470C>T (p.Ala4490=)
c.13827C>T (p.Ala4609=)
c.13428C>T (p.Ala4476=)
c.13416C>T (p.Ala4472=)
c.13374C>T (p.Ala4458=)
c.13350C>T (p.Ala4450=)
c.13320C>T (p.Ala4440=)
c.13497C>T (p.Ala4499=)
c.13347C>T (p.Ala4449=)
c.10047C>T (p.Ala3349=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916420G>CCA463526452PLECc.13533C>G (p.Ala4511=)
c.13452C>G (p.Ala4484=)
c.13119C>G (p.Ala4373=)
c.13332C>G (p.Ala4444=)
c.13401C>G (p.Ala4467=)
c.10101C>G (p.Ala3367=)
c.13812C>G (p.Ala4604=)
c.13335C>G (p.Ala4445=)
c.13359C>G (p.Ala4453=)
c.13413C>G (p.Ala4471=)
c.13305C>G (p.Ala4435=)
c.13482C>G (p.Ala4494=)
c.13470C>G (p.Ala4490=)
c.13827C>G (p.Ala4609=)
c.13428C>G (p.Ala4476=)
c.13416C>G (p.Ala4472=)
c.13374C>G (p.Ala4458=)
c.13350C>G (p.Ala4450=)
c.13320C>G (p.Ala4440=)
c.13497C>G (p.Ala4499=)
c.13347C>G (p.Ala4449=)
c.10047C>G (p.Ala3349=)
8g.143916420G=CA1826037149PLECc.13533C= (p.Ala4511=)
c.13452C= (p.Ala4484=)
c.13119C= (p.Ala4373=)
c.13332C= (p.Ala4444=)
c.13401C= (p.Ala4467=)
c.10101C= (p.Ala3367=)
c.13812C= (p.Ala4604=)
c.13335C= (p.Ala4445=)
c.13359C= (p.Ala4453=)
c.13413C= (p.Ala4471=)
c.13305C= (p.Ala4435=)
c.13482C= (p.Ala4494=)
c.13470C= (p.Ala4490=)
c.13827C= (p.Ala4609=)
c.13428C= (p.Ala4476=)
c.13416C= (p.Ala4472=)
c.13374C= (p.Ala4458=)
c.13350C= (p.Ala4450=)
c.13320C= (p.Ala4440=)
c.13497C= (p.Ala4499=)
c.13347C= (p.Ala4449=)
c.10047C= (p.Ala3349=)
8g.143916420G>TCA463526453PLECc.13533C>A (p.Ala4511=)
c.13452C>A (p.Ala4484=)
c.13119C>A (p.Ala4373=)
c.13332C>A (p.Ala4444=)
c.13401C>A (p.Ala4467=)
c.10101C>A (p.Ala3367=)
c.13812C>A (p.Ala4604=)
c.13335C>A (p.Ala4445=)
c.13359C>A (p.Ala4453=)
c.13413C>A (p.Ala4471=)
c.13305C>A (p.Ala4435=)
c.13482C>A (p.Ala4494=)
c.13470C>A (p.Ala4490=)
c.13827C>A (p.Ala4609=)
c.13428C>A (p.Ala4476=)
c.13416C>A (p.Ala4472=)
c.13374C>A (p.Ala4458=)
c.13350C>A (p.Ala4450=)
c.13320C>A (p.Ala4440=)
c.13497C>A (p.Ala4499=)
c.13347C>A (p.Ala4449=)
c.10047C>A (p.Ala3349=)
 gnomAD v4
8g.143916421G>ACA372474615PLECc.13532C>T (p.Ala4511Val)
c.13451C>T (p.Ala4484Val)
c.13118C>T (p.Ala4373Val)
c.13331C>T (p.Ala4444Val)
c.13400C>T (p.Ala4467Val)
c.10100C>T (p.Ala3367Val)
c.13811C>T (p.Ala4604Val)
c.13334C>T (p.Ala4445Val)
c.13358C>T (p.Ala4453Val)
c.13412C>T (p.Ala4471Val)
c.13304C>T (p.Ala4435Val)
c.13481C>T (p.Ala4494Val)
c.13469C>T (p.Ala4490Val)
c.13826C>T (p.Ala4609Val)
c.13427C>T (p.Ala4476Val)
c.13415C>T (p.Ala4472Val)
c.13373C>T (p.Ala4458Val)
c.13349C>T (p.Ala4450Val)
c.13319C>T (p.Ala4440Val)
c.13496C>T (p.Ala4499Val)
c.13346C>T (p.Ala4449Val)
c.10046C>T (p.Ala3349Val)
8g.143916421G>CCA372474616PLECc.13532C>G (p.Ala4511Gly)
c.13451C>G (p.Ala4484Gly)
c.13118C>G (p.Ala4373Gly)
c.13331C>G (p.Ala4444Gly)
c.13400C>G (p.Ala4467Gly)
c.10100C>G (p.Ala3367Gly)
c.13811C>G (p.Ala4604Gly)
c.13334C>G (p.Ala4445Gly)
c.13358C>G (p.Ala4453Gly)
c.13412C>G (p.Ala4471Gly)
c.13304C>G (p.Ala4435Gly)
c.13481C>G (p.Ala4494Gly)
c.13469C>G (p.Ala4490Gly)
c.13826C>G (p.Ala4609Gly)
c.13427C>G (p.Ala4476Gly)
c.13415C>G (p.Ala4472Gly)
c.13373C>G (p.Ala4458Gly)
c.13349C>G (p.Ala4450Gly)
c.13319C>G (p.Ala4440Gly)
c.13496C>G (p.Ala4499Gly)
c.13346C>G (p.Ala4449Gly)
c.10046C>G (p.Ala3349Gly)
 dbSNP
8g.143916421G=CA1826037151PLECc.13532C= (p.Ala4511=)
c.13451C= (p.Ala4484=)
c.13118C= (p.Ala4373=)
c.13331C= (p.Ala4444=)
c.13400C= (p.Ala4467=)
c.10100C= (p.Ala3367=)
c.13811C= (p.Ala4604=)
c.13334C= (p.Ala4445=)
c.13358C= (p.Ala4453=)
c.13412C= (p.Ala4471=)
c.13304C= (p.Ala4435=)
c.13481C= (p.Ala4494=)
c.13469C= (p.Ala4490=)
c.13826C= (p.Ala4609=)
c.13427C= (p.Ala4476=)
c.13415C= (p.Ala4472=)
c.13373C= (p.Ala4458=)
c.13349C= (p.Ala4450=)
c.13319C= (p.Ala4440=)
c.13496C= (p.Ala4499=)
c.13346C= (p.Ala4449=)
c.10046C= (p.Ala3349=)
8g.143916421G>TCA372474618PLECc.13532C>A (p.Ala4511Asp)
c.13451C>A (p.Ala4484Asp)
c.13118C>A (p.Ala4373Asp)
c.13331C>A (p.Ala4444Asp)
c.13400C>A (p.Ala4467Asp)
c.10100C>A (p.Ala3367Asp)
c.13811C>A (p.Ala4604Asp)
c.13334C>A (p.Ala4445Asp)
c.13358C>A (p.Ala4453Asp)
c.13412C>A (p.Ala4471Asp)
c.13304C>A (p.Ala4435Asp)
c.13481C>A (p.Ala4494Asp)
c.13469C>A (p.Ala4490Asp)
c.13826C>A (p.Ala4609Asp)
c.13427C>A (p.Ala4476Asp)
c.13415C>A (p.Ala4472Asp)
c.13373C>A (p.Ala4458Asp)
c.13349C>A (p.Ala4450Asp)
c.13319C>A (p.Ala4440Asp)
c.13496C>A (p.Ala4499Asp)
c.13346C>A (p.Ala4449Asp)
c.10046C>A (p.Ala3349Asp)
8g.143916422C>ACA372474624PLECc.13531G>T (p.Ala4511Ser)
c.13450G>T (p.Ala4484Ser)
c.13117G>T (p.Ala4373Ser)
c.13330G>T (p.Ala4444Ser)
c.13399G>T (p.Ala4467Ser)
c.10099G>T (p.Ala3367Ser)
c.13810G>T (p.Ala4604Ser)
c.13333G>T (p.Ala4445Ser)
c.13357G>T (p.Ala4453Ser)
c.13411G>T (p.Ala4471Ser)
c.13303G>T (p.Ala4435Ser)
c.13480G>T (p.Ala4494Ser)
c.13468G>T (p.Ala4490Ser)
c.13825G>T (p.Ala4609Ser)
c.13426G>T (p.Ala4476Ser)
c.13414G>T (p.Ala4472Ser)
c.13372G>T (p.Ala4458Ser)
c.13348G>T (p.Ala4450Ser)
c.13318G>T (p.Ala4440Ser)
c.13495G>T (p.Ala4499Ser)
c.13345G>T (p.Ala4449Ser)
c.10045G>T (p.Ala3349Ser)
8g.143916422C=CA1826037153PLECc.13531G= (p.Ala4511=)
c.13450G= (p.Ala4484=)
c.13117G= (p.Ala4373=)
c.13330G= (p.Ala4444=)
c.13399G= (p.Ala4467=)
c.10099G= (p.Ala3367=)
c.13810G= (p.Ala4604=)
c.13333G= (p.Ala4445=)
c.13357G= (p.Ala4453=)
c.13411G= (p.Ala4471=)
c.13303G= (p.Ala4435=)
c.13480G= (p.Ala4494=)
c.13468G= (p.Ala4490=)
c.13825G= (p.Ala4609=)
c.13426G= (p.Ala4476=)
c.13414G= (p.Ala4472=)
c.13372G= (p.Ala4458=)
c.13348G= (p.Ala4450=)
c.13318G= (p.Ala4440=)
c.13495G= (p.Ala4499=)
c.13345G= (p.Ala4449=)
c.10045G= (p.Ala3349=)
8g.143916422C>GCA372474622PLECc.13531G>C (p.Ala4511Pro)
c.13450G>C (p.Ala4484Pro)
c.13117G>C (p.Ala4373Pro)
c.13330G>C (p.Ala4444Pro)
c.13399G>C (p.Ala4467Pro)
c.10099G>C (p.Ala3367Pro)
c.13810G>C (p.Ala4604Pro)
c.13333G>C (p.Ala4445Pro)
c.13357G>C (p.Ala4453Pro)
c.13411G>C (p.Ala4471Pro)
c.13303G>C (p.Ala4435Pro)
c.13480G>C (p.Ala4494Pro)
c.13468G>C (p.Ala4490Pro)
c.13825G>C (p.Ala4609Pro)
c.13426G>C (p.Ala4476Pro)
c.13414G>C (p.Ala4472Pro)
c.13372G>C (p.Ala4458Pro)
c.13348G>C (p.Ala4450Pro)
c.13318G>C (p.Ala4440Pro)
c.13495G>C (p.Ala4499Pro)
c.13345G>C (p.Ala4449Pro)
c.10045G>C (p.Ala3349Pro)
8g.143916422C>TCA372474621PLECc.13531G>A (p.Ala4511Thr)
c.13450G>A (p.Ala4484Thr)
c.13117G>A (p.Ala4373Thr)
c.13330G>A (p.Ala4444Thr)
c.13399G>A (p.Ala4467Thr)
c.10099G>A (p.Ala3367Thr)
c.13810G>A (p.Ala4604Thr)
c.13333G>A (p.Ala4445Thr)
c.13357G>A (p.Ala4453Thr)
c.13411G>A (p.Ala4471Thr)
c.13303G>A (p.Ala4435Thr)
c.13480G>A (p.Ala4494Thr)
c.13468G>A (p.Ala4490Thr)
c.13825G>A (p.Ala4609Thr)
c.13426G>A (p.Ala4476Thr)
c.13414G>A (p.Ala4472Thr)
c.13372G>A (p.Ala4458Thr)
c.13348G>A (p.Ala4450Thr)
c.13318G>A (p.Ala4440Thr)
c.13495G>A (p.Ala4499Thr)
c.13345G>A (p.Ala4449Thr)
c.10045G>A (p.Ala3349Thr)
 dbSNP gnomAD v2
8g.143916423A>CCA463526459PLECc.13530T>G (p.Ala4510=)
c.13449T>G (p.Ala4483=)
c.13116T>G (p.Ala4372=)
c.13329T>G (p.Ala4443=)
c.13398T>G (p.Ala4466=)
c.10098T>G (p.Ala3366=)
c.13809T>G (p.Ala4603=)
c.13332T>G (p.Ala4444=)
c.13356T>G (p.Ala4452=)
c.13410T>G (p.Ala4470=)
c.13302T>G (p.Ala4434=)
c.13479T>G (p.Ala4493=)
c.13467T>G (p.Ala4489=)
c.13824T>G (p.Ala4608=)
c.13425T>G (p.Ala4475=)
c.13413T>G (p.Ala4471=)
c.13371T>G (p.Ala4457=)
c.13347T>G (p.Ala4449=)
c.13317T>G (p.Ala4439=)
c.13494T>G (p.Ala4498=)
c.13344T>G (p.Ala4448=)
c.10044T>G (p.Ala3348=)
8g.143916423A>GCA463526460PLECc.13530T>C (p.Ala4510=)
c.13449T>C (p.Ala4483=)
c.13116T>C (p.Ala4372=)
c.13329T>C (p.Ala4443=)
c.13398T>C (p.Ala4466=)
c.10098T>C (p.Ala3366=)
c.13809T>C (p.Ala4603=)
c.13332T>C (p.Ala4444=)
c.13356T>C (p.Ala4452=)
c.13410T>C (p.Ala4470=)
c.13302T>C (p.Ala4434=)
c.13479T>C (p.Ala4493=)
c.13467T>C (p.Ala4489=)
c.13824T>C (p.Ala4608=)
c.13425T>C (p.Ala4475=)
c.13413T>C (p.Ala4471=)
c.13371T>C (p.Ala4457=)
c.13347T>C (p.Ala4449=)
c.13317T>C (p.Ala4439=)
c.13494T>C (p.Ala4498=)
c.13344T>C (p.Ala4448=)
c.10044T>C (p.Ala3348=)
8g.143916423A>TCA463526461PLECc.13530T>A (p.Ala4510=)
c.13449T>A (p.Ala4483=)
c.13116T>A (p.Ala4372=)
c.13329T>A (p.Ala4443=)
c.13398T>A (p.Ala4466=)
c.10098T>A (p.Ala3366=)
c.13809T>A (p.Ala4603=)
c.13332T>A (p.Ala4444=)
c.13356T>A (p.Ala4452=)
c.13410T>A (p.Ala4470=)
c.13302T>A (p.Ala4434=)
c.13479T>A (p.Ala4493=)
c.13467T>A (p.Ala4489=)
c.13824T>A (p.Ala4608=)
c.13425T>A (p.Ala4475=)
c.13413T>A (p.Ala4471=)
c.13371T>A (p.Ala4457=)
c.13347T>A (p.Ala4449=)
c.13317T>A (p.Ala4439=)
c.13494T>A (p.Ala4498=)
c.13344T>A (p.Ala4448=)
c.10044T>A (p.Ala3348=)
8g.143916423_143916424insCGAGCA2522738019PLECc.13529_13530insCTCG (p.Ala4511SerfsTer?)
c.13448_13449insCTCG (p.Ala4484SerfsTer?)
c.13115_13116insCTCG (p.Ala4373SerfsTer?)
c.13328_13329insCTCG (p.Ala4444SerfsTer?)
c.13397_13398insCTCG (p.Ala4467SerfsTer?)
c.10097_10098insCTCG (p.Ala3367SerfsTer?)
c.13808_13809insCTCG (p.Ala4604SerfsTer?)
c.13331_13332insCTCG (p.Ala4445SerfsTer?)
c.13355_13356insCTCG (p.Ala4453SerfsTer?)
c.13409_13410insCTCG (p.Ala4471SerfsTer?)
c.13301_13302insCTCG (p.Ala4435SerfsTer?)
c.13478_13479insCTCG (p.Ala4494SerfsTer?)
c.13466_13467insCTCG (p.Ala4490SerfsTer?)
c.13823_13824insCTCG (p.Ala4609SerfsTer?)
c.13424_13425insCTCG (p.Ala4476SerfsTer?)
c.13412_13413insCTCG (p.Ala4472SerfsTer?)
c.13370_13371insCTCG (p.Ala4458SerfsTer?)
c.13346_13347insCTCG (p.Ala4450SerfsTer?)
c.13316_13317insCTCG (p.Ala4440SerfsTer?)
c.13493_13494insCTCG (p.Ala4499SerfsTer?)
c.13343_13344insCTCG (p.Ala4449SerfsTer?)
c.10043_10044insCTCG (p.Ala3349SerfsTer?)
8g.143916424G>ACA372474627PLECc.13529C>T (p.Ala4510Val)
c.13448C>T (p.Ala4483Val)
c.13115C>T (p.Ala4372Val)
c.13328C>T (p.Ala4443Val)
c.13397C>T (p.Ala4466Val)
c.10097C>T (p.Ala3366Val)
c.13808C>T (p.Ala4603Val)
c.13331C>T (p.Ala4444Val)
c.13355C>T (p.Ala4452Val)
c.13409C>T (p.Ala4470Val)
c.13301C>T (p.Ala4434Val)
c.13478C>T (p.Ala4493Val)
c.13466C>T (p.Ala4489Val)
c.13823C>T (p.Ala4608Val)
c.13424C>T (p.Ala4475Val)
c.13412C>T (p.Ala4471Val)
c.13370C>T (p.Ala4457Val)
c.13346C>T (p.Ala4449Val)
c.13316C>T (p.Ala4439Val)
c.13493C>T (p.Ala4498Val)
c.13343C>T (p.Ala4448Val)
c.10043C>T (p.Ala3348Val)
 dbSNP gnomAD v3 gnomAD v4
8g.143916424G>CCA372474630PLECc.13529C>G (p.Ala4510Gly)
c.13448C>G (p.Ala4483Gly)
c.13115C>G (p.Ala4372Gly)
c.13328C>G (p.Ala4443Gly)
c.13397C>G (p.Ala4466Gly)
c.10097C>G (p.Ala3366Gly)
c.13808C>G (p.Ala4603Gly)
c.13331C>G (p.Ala4444Gly)
c.13355C>G (p.Ala4452Gly)
c.13409C>G (p.Ala4470Gly)
c.13301C>G (p.Ala4434Gly)
c.13478C>G (p.Ala4493Gly)
c.13466C>G (p.Ala4489Gly)
c.13823C>G (p.Ala4608Gly)
c.13424C>G (p.Ala4475Gly)
c.13412C>G (p.Ala4471Gly)
c.13370C>G (p.Ala4457Gly)
c.13346C>G (p.Ala4449Gly)
c.13316C>G (p.Ala4439Gly)
c.13493C>G (p.Ala4498Gly)
c.13343C>G (p.Ala4448Gly)
c.10043C>G (p.Ala3348Gly)
8g.143916424G=CA1826037155PLECc.13529C= (p.Ala4510=)
c.13448C= (p.Ala4483=)
c.13115C= (p.Ala4372=)
c.13328C= (p.Ala4443=)
c.13397C= (p.Ala4466=)
c.10097C= (p.Ala3366=)
c.13808C= (p.Ala4603=)
c.13331C= (p.Ala4444=)
c.13355C= (p.Ala4452=)
c.13409C= (p.Ala4470=)
c.13301C= (p.Ala4434=)
c.13478C= (p.Ala4493=)
c.13466C= (p.Ala4489=)
c.13823C= (p.Ala4608=)
c.13424C= (p.Ala4475=)
c.13412C= (p.Ala4471=)
c.13370C= (p.Ala4457=)
c.13346C= (p.Ala4449=)
c.13316C= (p.Ala4439=)
c.13493C= (p.Ala4498=)
c.13343C= (p.Ala4448=)
c.10043C= (p.Ala3348=)
8g.143916424G>TCA372474628PLECc.13529C>A (p.Ala4510Asp)
c.13448C>A (p.Ala4483Asp)
c.13115C>A (p.Ala4372Asp)
c.13328C>A (p.Ala4443Asp)
c.13397C>A (p.Ala4466Asp)
c.10097C>A (p.Ala3366Asp)
c.13808C>A (p.Ala4603Asp)
c.13331C>A (p.Ala4444Asp)
c.13355C>A (p.Ala4452Asp)
c.13409C>A (p.Ala4470Asp)
c.13301C>A (p.Ala4434Asp)
c.13478C>A (p.Ala4493Asp)
c.13466C>A (p.Ala4489Asp)
c.13823C>A (p.Ala4608Asp)
c.13424C>A (p.Ala4475Asp)
c.13412C>A (p.Ala4471Asp)
c.13370C>A (p.Ala4457Asp)
c.13346C>A (p.Ala4449Asp)
c.13316C>A (p.Ala4439Asp)
c.13493C>A (p.Ala4498Asp)
c.13343C>A (p.Ala4448Asp)
c.10043C>A (p.Ala3348Asp)
8g.143916425C>ACA372474632PLECc.13528G>T (p.Ala4510Ser)
c.13447G>T (p.Ala4483Ser)
c.13114G>T (p.Ala4372Ser)
c.13327G>T (p.Ala4443Ser)
c.13396G>T (p.Ala4466Ser)
c.10096G>T (p.Ala3366Ser)
c.13807G>T (p.Ala4603Ser)
c.13330G>T (p.Ala4444Ser)
c.13354G>T (p.Ala4452Ser)
c.13408G>T (p.Ala4470Ser)
c.13300G>T (p.Ala4434Ser)
c.13477G>T (p.Ala4493Ser)
c.13465G>T (p.Ala4489Ser)
c.13822G>T (p.Ala4608Ser)
c.13423G>T (p.Ala4475Ser)
c.13411G>T (p.Ala4471Ser)
c.13369G>T (p.Ala4457Ser)
c.13345G>T (p.Ala4449Ser)
c.13315G>T (p.Ala4439Ser)
c.13492G>T (p.Ala4498Ser)
c.13342G>T (p.Ala4448Ser)
c.10042G>T (p.Ala3348Ser)
8g.143916425C>GCA372474633PLECc.13528G>C (p.Ala4510Pro)
c.13447G>C (p.Ala4483Pro)
c.13114G>C (p.Ala4372Pro)
c.13327G>C (p.Ala4443Pro)
c.13396G>C (p.Ala4466Pro)
c.10096G>C (p.Ala3366Pro)
c.13807G>C (p.Ala4603Pro)
c.13330G>C (p.Ala4444Pro)
c.13354G>C (p.Ala4452Pro)
c.13408G>C (p.Ala4470Pro)
c.13300G>C (p.Ala4434Pro)
c.13477G>C (p.Ala4493Pro)
c.13465G>C (p.Ala4489Pro)
c.13822G>C (p.Ala4608Pro)
c.13423G>C (p.Ala4475Pro)
c.13411G>C (p.Ala4471Pro)
c.13369G>C (p.Ala4457Pro)
c.13345G>C (p.Ala4449Pro)
c.13315G>C (p.Ala4439Pro)
c.13492G>C (p.Ala4498Pro)
c.13342G>C (p.Ala4448Pro)
c.10042G>C (p.Ala3348Pro)
8g.143916425C>TCA372474635PLECc.13528G>A (p.Ala4510Thr)
c.13447G>A (p.Ala4483Thr)
c.13114G>A (p.Ala4372Thr)
c.13327G>A (p.Ala4443Thr)
c.13396G>A (p.Ala4466Thr)
c.10096G>A (p.Ala3366Thr)
c.13807G>A (p.Ala4603Thr)
c.13330G>A (p.Ala4444Thr)
c.13354G>A (p.Ala4452Thr)
c.13408G>A (p.Ala4470Thr)
c.13300G>A (p.Ala4434Thr)
c.13477G>A (p.Ala4493Thr)
c.13465G>A (p.Ala4489Thr)
c.13822G>A (p.Ala4608Thr)
c.13423G>A (p.Ala4475Thr)
c.13411G>A (p.Ala4471Thr)
c.13369G>A (p.Ala4457Thr)
c.13345G>A (p.Ala4449Thr)
c.13315G>A (p.Ala4439Thr)
c.13492G>A (p.Ala4498Thr)
c.13342G>A (p.Ala4448Thr)
c.10042G>A (p.Ala3348Thr)
 COSMIC
8g.143916426C>ACA372474637PLECc.13527G>T (p.Glu4509Asp)
c.13446G>T (p.Glu4482Asp)
c.13113G>T (p.Glu4371Asp)
c.13326G>T (p.Glu4442Asp)
c.13395G>T (p.Glu4465Asp)
c.10095G>T (p.Glu3365Asp)
c.13806G>T (p.Glu4602Asp)
c.13329G>T (p.Glu4443Asp)
c.13353G>T (p.Glu4451Asp)
c.13407G>T (p.Glu4469Asp)
c.13299G>T (p.Glu4433Asp)
c.13476G>T (p.Glu4492Asp)
c.13464G>T (p.Glu4488Asp)
c.13821G>T (p.Glu4607Asp)
c.13422G>T (p.Glu4474Asp)
c.13410G>T (p.Glu4470Asp)
c.13368G>T (p.Glu4456Asp)
c.13344G>T (p.Glu4448Asp)
c.13314G>T (p.Glu4438Asp)
c.13491G>T (p.Glu4497Asp)
c.13341G>T (p.Glu4447Asp)
c.10041G>T (p.Glu3347Asp)
8g.143916426C>GCA372474638PLECc.13527G>C (p.Glu4509Asp)
c.13446G>C (p.Glu4482Asp)
c.13113G>C (p.Glu4371Asp)
c.13326G>C (p.Glu4442Asp)
c.13395G>C (p.Glu4465Asp)
c.10095G>C (p.Glu3365Asp)
c.13806G>C (p.Glu4602Asp)
c.13329G>C (p.Glu4443Asp)
c.13353G>C (p.Glu4451Asp)
c.13407G>C (p.Glu4469Asp)
c.13299G>C (p.Glu4433Asp)
c.13476G>C (p.Glu4492Asp)
c.13464G>C (p.Glu4488Asp)
c.13821G>C (p.Glu4607Asp)
c.13422G>C (p.Glu4474Asp)
c.13410G>C (p.Glu4470Asp)
c.13368G>C (p.Glu4456Asp)
c.13344G>C (p.Glu4448Asp)
c.13314G>C (p.Glu4438Asp)
c.13491G>C (p.Glu4497Asp)
c.13341G>C (p.Glu4447Asp)
c.10041G>C (p.Glu3347Asp)
8g.143916426C>TCA463526467PLECc.13527G>A (p.Glu4509=)
c.13446G>A (p.Glu4482=)
c.13113G>A (p.Glu4371=)
c.13326G>A (p.Glu4442=)
c.13395G>A (p.Glu4465=)
c.10095G>A (p.Glu3365=)
c.13806G>A (p.Glu4602=)
c.13329G>A (p.Glu4443=)
c.13353G>A (p.Glu4451=)
c.13407G>A (p.Glu4469=)
c.13299G>A (p.Glu4433=)
c.13476G>A (p.Glu4492=)
c.13464G>A (p.Glu4488=)
c.13821G>A (p.Glu4607=)
c.13422G>A (p.Glu4474=)
c.13410G>A (p.Glu4470=)
c.13368G>A (p.Glu4456=)
c.13344G>A (p.Glu4448=)
c.13314G>A (p.Glu4438=)
c.13491G>A (p.Glu4497=)
c.13341G>A (p.Glu4447=)
c.10041G>A (p.Glu3347=)
 gnomAD v4
8g.143916427T>ACA372474641PLECc.13526A>T (p.Glu4509Val)
c.13445A>T (p.Glu4482Val)
c.13112A>T (p.Glu4371Val)
c.13325A>T (p.Glu4442Val)
c.13394A>T (p.Glu4465Val)
c.10094A>T (p.Glu3365Val)
c.13805A>T (p.Glu4602Val)
c.13328A>T (p.Glu4443Val)
c.13352A>T (p.Glu4451Val)
c.13406A>T (p.Glu4469Val)
c.13298A>T (p.Glu4433Val)
c.13475A>T (p.Glu4492Val)
c.13463A>T (p.Glu4488Val)
c.13820A>T (p.Glu4607Val)
c.13421A>T (p.Glu4474Val)
c.13409A>T (p.Glu4470Val)
c.13367A>T (p.Glu4456Val)
c.13343A>T (p.Glu4448Val)
c.13313A>T (p.Glu4438Val)
c.13490A>T (p.Glu4497Val)
c.13340A>T (p.Glu4447Val)
c.10040A>T (p.Glu3347Val)
 gnomAD v4
8g.143916427T>CCA372474643PLECc.13526A>G (p.Glu4509Gly)
c.13445A>G (p.Glu4482Gly)
c.13112A>G (p.Glu4371Gly)
c.13325A>G (p.Glu4442Gly)
c.13394A>G (p.Glu4465Gly)
c.10094A>G (p.Glu3365Gly)
c.13805A>G (p.Glu4602Gly)
c.13328A>G (p.Glu4443Gly)
c.13352A>G (p.Glu4451Gly)
c.13406A>G (p.Glu4469Gly)
c.13298A>G (p.Glu4433Gly)
c.13475A>G (p.Glu4492Gly)
c.13463A>G (p.Glu4488Gly)
c.13820A>G (p.Glu4607Gly)
c.13421A>G (p.Glu4474Gly)
c.13409A>G (p.Glu4470Gly)
c.13367A>G (p.Glu4456Gly)
c.13343A>G (p.Glu4448Gly)
c.13313A>G (p.Glu4438Gly)
c.13490A>G (p.Glu4497Gly)
c.13340A>G (p.Glu4447Gly)
c.10040A>G (p.Glu3347Gly)
 gnomAD v4
8g.143916427T>GCA372474645PLECc.13526A>C (p.Glu4509Ala)
c.13445A>C (p.Glu4482Ala)
c.13112A>C (p.Glu4371Ala)
c.13325A>C (p.Glu4442Ala)
c.13394A>C (p.Glu4465Ala)
c.10094A>C (p.Glu3365Ala)
c.13805A>C (p.Glu4602Ala)
c.13328A>C (p.Glu4443Ala)
c.13352A>C (p.Glu4451Ala)
c.13406A>C (p.Glu4469Ala)
c.13298A>C (p.Glu4433Ala)
c.13475A>C (p.Glu4492Ala)
c.13463A>C (p.Glu4488Ala)
c.13820A>C (p.Glu4607Ala)
c.13421A>C (p.Glu4474Ala)
c.13409A>C (p.Glu4470Ala)
c.13367A>C (p.Glu4456Ala)
c.13343A>C (p.Glu4448Ala)
c.13313A>C (p.Glu4438Ala)
c.13490A>C (p.Glu4497Ala)
c.13340A>C (p.Glu4447Ala)
c.10040A>C (p.Glu3347Ala)
8g.143916428C>ACA372474647PLECc.13525G>T (p.Glu4509Ter)
c.13444G>T (p.Glu4482Ter)
c.13111G>T (p.Glu4371Ter)
c.13324G>T (p.Glu4442Ter)
c.13393G>T (p.Glu4465Ter)
c.10093G>T (p.Glu3365Ter)
c.13804G>T (p.Glu4602Ter)
c.13327G>T (p.Glu4443Ter)
c.13351G>T (p.Glu4451Ter)
c.13405G>T (p.Glu4469Ter)
c.13297G>T (p.Glu4433Ter)
c.13474G>T (p.Glu4492Ter)
c.13462G>T (p.Glu4488Ter)
c.13819G>T (p.Glu4607Ter)
c.13420G>T (p.Glu4474Ter)
c.13408G>T (p.Glu4470Ter)
c.13366G>T (p.Glu4456Ter)
c.13342G>T (p.Glu4448Ter)
c.13312G>T (p.Glu4438Ter)
c.13489G>T (p.Glu4497Ter)
c.13339G>T (p.Glu4447Ter)
c.10039G>T (p.Glu3347Ter)
8g.143916428C>GCA372474649PLECc.13525G>C (p.Glu4509Gln)
c.13444G>C (p.Glu4482Gln)
c.13111G>C (p.Glu4371Gln)
c.13324G>C (p.Glu4442Gln)
c.13393G>C (p.Glu4465Gln)
c.10093G>C (p.Glu3365Gln)
c.13804G>C (p.Glu4602Gln)
c.13327G>C (p.Glu4443Gln)
c.13351G>C (p.Glu4451Gln)
c.13405G>C (p.Glu4469Gln)
c.13297G>C (p.Glu4433Gln)
c.13474G>C (p.Glu4492Gln)
c.13462G>C (p.Glu4488Gln)
c.13819G>C (p.Glu4607Gln)
c.13420G>C (p.Glu4474Gln)
c.13408G>C (p.Glu4470Gln)
c.13366G>C (p.Glu4456Gln)
c.13342G>C (p.Glu4448Gln)
c.13312G>C (p.Glu4438Gln)
c.13489G>C (p.Glu4497Gln)
c.13339G>C (p.Glu4447Gln)
c.10039G>C (p.Glu3347Gln)
8g.143916428C>TCA372474651PLECc.13525G>A (p.Glu4509Lys)
c.13444G>A (p.Glu4482Lys)
c.13111G>A (p.Glu4371Lys)
c.13324G>A (p.Glu4442Lys)
c.13393G>A (p.Glu4465Lys)
c.10093G>A (p.Glu3365Lys)
c.13804G>A (p.Glu4602Lys)
c.13327G>A (p.Glu4443Lys)
c.13351G>A (p.Glu4451Lys)
c.13405G>A (p.Glu4469Lys)
c.13297G>A (p.Glu4433Lys)
c.13474G>A (p.Glu4492Lys)
c.13462G>A (p.Glu4488Lys)
c.13819G>A (p.Glu4607Lys)
c.13420G>A (p.Glu4474Lys)
c.13408G>A (p.Glu4470Lys)
c.13366G>A (p.Glu4456Lys)
c.13342G>A (p.Glu4448Lys)
c.13312G>A (p.Glu4438Lys)
c.13489G>A (p.Glu4497Lys)
c.13339G>A (p.Glu4447Lys)
c.10039G>A (p.Glu3347Lys)
8g.143916429_143916444dupCA2695203196PLECc.13510_13525dup (p.Glu4509GlyfsTer?)
c.13429_13444dup (p.Glu4482GlyfsTer?)
c.13096_13111dup (p.Glu4371GlyfsTer?)
c.13309_13324dup (p.Glu4442GlyfsTer?)
c.13378_13393dup (p.Glu4465GlyfsTer?)
c.10078_10093dup (p.Glu3365GlyfsTer?)
c.13789_13804dup (p.Glu4602GlyfsTer?)
c.13312_13327dup (p.Glu4443GlyfsTer?)
c.13336_13351dup (p.Glu4451GlyfsTer?)
c.13390_13405dup (p.Glu4469GlyfsTer?)
c.13282_13297dup (p.Glu4433GlyfsTer?)
c.13459_13474dup (p.Glu4492GlyfsTer?)
c.13447_13462dup (p.Glu4488GlyfsTer?)
c.13804_13819dup (p.Glu4607GlyfsTer?)
c.13405_13420dup (p.Glu4474GlyfsTer?)
c.13393_13408dup (p.Glu4470GlyfsTer?)
c.13351_13366dup (p.Glu4456GlyfsTer?)
c.13327_13342dup (p.Glu4448GlyfsTer?)
c.13297_13312dup (p.Glu4438GlyfsTer?)
c.13474_13489dup (p.Glu4497GlyfsTer?)
c.13324_13339dup (p.Glu4447GlyfsTer?)
c.10024_10039dup (p.Glu3347GlyfsTer?)
8g.143916429C>ACA463526474PLECc.13524G>T (p.Leu4508=)
c.13443G>T (p.Leu4481=)
c.13110G>T (p.Leu4370=)
c.13323G>T (p.Leu4441=)
c.13392G>T (p.Leu4464=)
c.10092G>T (p.Leu3364=)
c.13803G>T (p.Leu4601=)
c.13326G>T (p.Leu4442=)
c.13350G>T (p.Leu4450=)
c.13404G>T (p.Leu4468=)
c.13296G>T (p.Leu4432=)
c.13473G>T (p.Leu4491=)
c.13461G>T (p.Leu4487=)
c.13818G>T (p.Leu4606=)
c.13419G>T (p.Leu4473=)
c.13407G>T (p.Leu4469=)
c.13365G>T (p.Leu4455=)
c.13341G>T (p.Leu4447=)
c.13311G>T (p.Leu4437=)
c.13488G>T (p.Leu4496=)
c.13338G>T (p.Leu4446=)
c.10038G>T (p.Leu3346=)
8g.143916429C=CA1826037156PLECc.13524G= (p.Leu4508=)
c.13443G= (p.Leu4481=)
c.13110G= (p.Leu4370=)
c.13323G= (p.Leu4441=)
c.13392G= (p.Leu4464=)
c.10092G= (p.Leu3364=)
c.13803G= (p.Leu4601=)
c.13326G= (p.Leu4442=)
c.13350G= (p.Leu4450=)
c.13404G= (p.Leu4468=)
c.13296G= (p.Leu4432=)
c.13473G= (p.Leu4491=)
c.13461G= (p.Leu4487=)
c.13818G= (p.Leu4606=)
c.13419G= (p.Leu4473=)
c.13407G= (p.Leu4469=)
c.13365G= (p.Leu4455=)
c.13341G= (p.Leu4447=)
c.13311G= (p.Leu4437=)
c.13488G= (p.Leu4496=)
c.13338G= (p.Leu4446=)
c.10038G= (p.Leu3346=)
8g.143916429C>GCA463526475PLECc.13524G>C (p.Leu4508=)
c.13443G>C (p.Leu4481=)
c.13110G>C (p.Leu4370=)
c.13323G>C (p.Leu4441=)
c.13392G>C (p.Leu4464=)
c.10092G>C (p.Leu3364=)
c.13803G>C (p.Leu4601=)
c.13326G>C (p.Leu4442=)
c.13350G>C (p.Leu4450=)
c.13404G>C (p.Leu4468=)
c.13296G>C (p.Leu4432=)
c.13473G>C (p.Leu4491=)
c.13461G>C (p.Leu4487=)
c.13818G>C (p.Leu4606=)
c.13419G>C (p.Leu4473=)
c.13407G>C (p.Leu4469=)
c.13365G>C (p.Leu4455=)
c.13341G>C (p.Leu4447=)
c.13311G>C (p.Leu4437=)
c.13488G>C (p.Leu4496=)
c.13338G>C (p.Leu4446=)
c.10038G>C (p.Leu3346=)
8g.143916429C>TCA463526476PLECc.13524G>A (p.Leu4508=)
c.13443G>A (p.Leu4481=)
c.13110G>A (p.Leu4370=)
c.13323G>A (p.Leu4441=)
c.13392G>A (p.Leu4464=)
c.10092G>A (p.Leu3364=)
c.13803G>A (p.Leu4601=)
c.13326G>A (p.Leu4442=)
c.13350G>A (p.Leu4450=)
c.13404G>A (p.Leu4468=)
c.13296G>A (p.Leu4432=)
c.13473G>A (p.Leu4491=)
c.13461G>A (p.Leu4487=)
c.13818G>A (p.Leu4606=)
c.13419G>A (p.Leu4473=)
c.13407G>A (p.Leu4469=)
c.13365G>A (p.Leu4455=)
c.13341G>A (p.Leu4447=)
c.13311G>A (p.Leu4437=)
c.13488G>A (p.Leu4496=)
c.13338G>A (p.Leu4446=)
c.10038G>A (p.Leu3346=)
 dbSNP gnomAD v3 gnomAD v4
8g.143916430A=CA1826037159PLECc.13523T= (p.Leu4508=)
c.13442T= (p.Leu4481=)
c.13109T= (p.Leu4370=)
c.13322T= (p.Leu4441=)
c.13391T= (p.Leu4464=)
c.10091T= (p.Leu3364=)
c.13802T= (p.Leu4601=)
c.13325T= (p.Leu4442=)
c.13349T= (p.Leu4450=)
c.13403T= (p.Leu4468=)
c.13295T= (p.Leu4432=)
c.13472T= (p.Leu4491=)
c.13460T= (p.Leu4487=)
c.13817T= (p.Leu4606=)
c.13418T= (p.Leu4473=)
c.13406T= (p.Leu4469=)
c.13364T= (p.Leu4455=)
c.13340T= (p.Leu4447=)
c.13310T= (p.Leu4437=)
c.13487T= (p.Leu4496=)
c.13337T= (p.Leu4446=)
c.10037T= (p.Leu3346=)
8g.143916430A>CCA372474657PLECc.13523T>G (p.Leu4508Arg)
c.13442T>G (p.Leu4481Arg)
c.13109T>G (p.Leu4370Arg)
c.13322T>G (p.Leu4441Arg)
c.13391T>G (p.Leu4464Arg)
c.10091T>G (p.Leu3364Arg)
c.13802T>G (p.Leu4601Arg)
c.13325T>G (p.Leu4442Arg)
c.13349T>G (p.Leu4450Arg)
c.13403T>G (p.Leu4468Arg)
c.13295T>G (p.Leu4432Arg)
c.13472T>G (p.Leu4491Arg)
c.13460T>G (p.Leu4487Arg)
c.13817T>G (p.Leu4606Arg)
c.13418T>G (p.Leu4473Arg)
c.13406T>G (p.Leu4469Arg)
c.13364T>G (p.Leu4455Arg)
c.13340T>G (p.Leu4447Arg)
c.13310T>G (p.Leu4437Arg)
c.13487T>G (p.Leu4496Arg)
c.13337T>G (p.Leu4446Arg)
c.10037T>G (p.Leu3346Arg)
8g.143916430A>GCA372474655PLECc.13523T>C (p.Leu4508Pro)
c.13442T>C (p.Leu4481Pro)
c.13109T>C (p.Leu4370Pro)
c.13322T>C (p.Leu4441Pro)
c.13391T>C (p.Leu4464Pro)
c.10091T>C (p.Leu3364Pro)
c.13802T>C (p.Leu4601Pro)
c.13325T>C (p.Leu4442Pro)
c.13349T>C (p.Leu4450Pro)
c.13403T>C (p.Leu4468Pro)
c.13295T>C (p.Leu4432Pro)
c.13472T>C (p.Leu4491Pro)
c.13460T>C (p.Leu4487Pro)
c.13817T>C (p.Leu4606Pro)
c.13418T>C (p.Leu4473Pro)
c.13406T>C (p.Leu4469Pro)
c.13364T>C (p.Leu4455Pro)
c.13340T>C (p.Leu4447Pro)
c.13310T>C (p.Leu4437Pro)
c.13487T>C (p.Leu4496Pro)
c.13337T>C (p.Leu4446Pro)
c.10037T>C (p.Leu3346Pro)
 dbSNP gnomAD v2 gnomAD v4
8g.143916430A>TCA372474653PLECc.13523T>A (p.Leu4508Gln)
c.13442T>A (p.Leu4481Gln)
c.13109T>A (p.Leu4370Gln)
c.13322T>A (p.Leu4441Gln)
c.13391T>A (p.Leu4464Gln)
c.10091T>A (p.Leu3364Gln)
c.13802T>A (p.Leu4601Gln)
c.13325T>A (p.Leu4442Gln)
c.13349T>A (p.Leu4450Gln)
c.13403T>A (p.Leu4468Gln)
c.13295T>A (p.Leu4432Gln)
c.13472T>A (p.Leu4491Gln)
c.13460T>A (p.Leu4487Gln)
c.13817T>A (p.Leu4606Gln)
c.13418T>A (p.Leu4473Gln)
c.13406T>A (p.Leu4469Gln)
c.13364T>A (p.Leu4455Gln)
c.13340T>A (p.Leu4447Gln)
c.13310T>A (p.Leu4437Gln)
c.13487T>A (p.Leu4496Gln)
c.13337T>A (p.Leu4446Gln)
c.10037T>A (p.Leu3346Gln)
8g.143916431G>ACA463526477PLECc.13522C>T (p.Leu4508=)
c.13441C>T (p.Leu4481=)
c.13108C>T (p.Leu4370=)
c.13321C>T (p.Leu4441=)
c.13390C>T (p.Leu4464=)
c.10090C>T (p.Leu3364=)
c.13801C>T (p.Leu4601=)
c.13324C>T (p.Leu4442=)
c.13348C>T (p.Leu4450=)
c.13402C>T (p.Leu4468=)
c.13294C>T (p.Leu4432=)
c.13471C>T (p.Leu4491=)
c.13459C>T (p.Leu4487=)
c.13816C>T (p.Leu4606=)
c.13417C>T (p.Leu4473=)
c.13405C>T (p.Leu4469=)
c.13363C>T (p.Leu4455=)
c.13339C>T (p.Leu4447=)
c.13309C>T (p.Leu4437=)
c.13486C>T (p.Leu4496=)
c.13336C>T (p.Leu4446=)
c.10036C>T (p.Leu3346=)
8g.143916431G>CCA372474658PLECc.13522C>G (p.Leu4508Val)
c.13441C>G (p.Leu4481Val)
c.13108C>G (p.Leu4370Val)
c.13321C>G (p.Leu4441Val)
c.13390C>G (p.Leu4464Val)
c.10090C>G (p.Leu3364Val)
c.13801C>G (p.Leu4601Val)
c.13324C>G (p.Leu4442Val)
c.13348C>G (p.Leu4450Val)
c.13402C>G (p.Leu4468Val)
c.13294C>G (p.Leu4432Val)
c.13471C>G (p.Leu4491Val)
c.13459C>G (p.Leu4487Val)
c.13816C>G (p.Leu4606Val)
c.13417C>G (p.Leu4473Val)
c.13405C>G (p.Leu4469Val)
c.13363C>G (p.Leu4455Val)
c.13339C>G (p.Leu4447Val)
c.13309C>G (p.Leu4437Val)
c.13486C>G (p.Leu4496Val)
c.13336C>G (p.Leu4446Val)
c.10036C>G (p.Leu3346Val)
8g.143916431G>TCA372474660PLECc.13522C>A (p.Leu4508Met)
c.13441C>A (p.Leu4481Met)
c.13108C>A (p.Leu4370Met)
c.13321C>A (p.Leu4441Met)
c.13390C>A (p.Leu4464Met)
c.10090C>A (p.Leu3364Met)
c.13801C>A (p.Leu4601Met)
c.13324C>A (p.Leu4442Met)
c.13348C>A (p.Leu4450Met)
c.13402C>A (p.Leu4468Met)
c.13294C>A (p.Leu4432Met)
c.13471C>A (p.Leu4491Met)
c.13459C>A (p.Leu4487Met)
c.13816C>A (p.Leu4606Met)
c.13417C>A (p.Leu4473Met)
c.13405C>A (p.Leu4469Met)
c.13363C>A (p.Leu4455Met)
c.13339C>A (p.Leu4447Met)
c.13309C>A (p.Leu4437Met)
c.13486C>A (p.Leu4496Met)
c.13336C>A (p.Leu4446Met)
c.10036C>A (p.Leu3346Met)
8g.143916432C>ACA463526482PLECc.13521G>T (p.Leu4507=)
c.13440G>T (p.Leu4480=)
c.13107G>T (p.Leu4369=)
c.13320G>T (p.Leu4440=)
c.13389G>T (p.Leu4463=)
c.10089G>T (p.Leu3363=)
c.13800G>T (p.Leu4600=)
c.13323G>T (p.Leu4441=)
c.13347G>T (p.Leu4449=)
c.13401G>T (p.Leu4467=)
c.13293G>T (p.Leu4431=)
c.13470G>T (p.Leu4490=)
c.13458G>T (p.Leu4486=)
c.13815G>T (p.Leu4605=)
c.13416G>T (p.Leu4472=)
c.13404G>T (p.Leu4468=)
c.13362G>T (p.Leu4454=)
c.13338G>T (p.Leu4446=)
c.13308G>T (p.Leu4436=)
c.13485G>T (p.Leu4495=)
c.13335G>T (p.Leu4445=)
c.10035G>T (p.Leu3345=)
8g.143916432C=CA1826037162PLECc.13521G= (p.Leu4507=)
c.13440G= (p.Leu4480=)
c.13107G= (p.Leu4369=)
c.13320G= (p.Leu4440=)
c.13389G= (p.Leu4463=)
c.10089G= (p.Leu3363=)
c.13800G= (p.Leu4600=)
c.13323G= (p.Leu4441=)
c.13347G= (p.Leu4449=)
c.13401G= (p.Leu4467=)
c.13293G= (p.Leu4431=)
c.13470G= (p.Leu4490=)
c.13458G= (p.Leu4486=)
c.13815G= (p.Leu4605=)
c.13416G= (p.Leu4472=)
c.13404G= (p.Leu4468=)
c.13362G= (p.Leu4454=)
c.13338G= (p.Leu4446=)
c.13308G= (p.Leu4436=)
c.13485G= (p.Leu4495=)
c.13335G= (p.Leu4445=)
c.10035G= (p.Leu3345=)
8g.143916432C>GCA463526485PLECc.13521G>C (p.Leu4507=)
c.13440G>C (p.Leu4480=)
c.13107G>C (p.Leu4369=)
c.13320G>C (p.Leu4440=)
c.13389G>C (p.Leu4463=)
c.10089G>C (p.Leu3363=)
c.13800G>C (p.Leu4600=)
c.13323G>C (p.Leu4441=)
c.13347G>C (p.Leu4449=)
c.13401G>C (p.Leu4467=)
c.13293G>C (p.Leu4431=)
c.13470G>C (p.Leu4490=)
c.13458G>C (p.Leu4486=)
c.13815G>C (p.Leu4605=)
c.13416G>C (p.Leu4472=)
c.13404G>C (p.Leu4468=)
c.13362G>C (p.Leu4454=)
c.13338G>C (p.Leu4446=)
c.13308G>C (p.Leu4436=)
c.13485G>C (p.Leu4495=)
c.13335G>C (p.Leu4445=)
c.10035G>C (p.Leu3345=)
8g.143916432C>TCA187606117PLECc.13521G>A (p.Leu4507=)
c.13440G>A (p.Leu4480=)
c.13107G>A (p.Leu4369=)
c.13320G>A (p.Leu4440=)
c.13389G>A (p.Leu4463=)
c.10089G>A (p.Leu3363=)
c.13800G>A (p.Leu4600=)
c.13323G>A (p.Leu4441=)
c.13347G>A (p.Leu4449=)
c.13401G>A (p.Leu4467=)
c.13293G>A (p.Leu4431=)
c.13470G>A (p.Leu4490=)
c.13458G>A (p.Leu4486=)
c.13815G>A (p.Leu4605=)
c.13416G>A (p.Leu4472=)
c.13404G>A (p.Leu4468=)
c.13362G>A (p.Leu4454=)
c.13338G>A (p.Leu4446=)
c.13308G>A (p.Leu4436=)
c.13485G>A (p.Leu4495=)
c.13335G>A (p.Leu4445=)
c.10035G>A (p.Leu3345=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143916433A=CA1826037163PLECc.13520T= (p.Leu4507=)
c.13439T= (p.Leu4480=)
c.13106T= (p.Leu4369=)
c.13319T= (p.Leu4440=)
c.13388T= (p.Leu4463=)
c.10088T= (p.Leu3363=)
c.13799T= (p.Leu4600=)
c.13322T= (p.Leu4441=)
c.13346T= (p.Leu4449=)
c.13400T= (p.Leu4467=)
c.13292T= (p.Leu4431=)
c.13469T= (p.Leu4490=)
c.13457T= (p.Leu4486=)
c.13814T= (p.Leu4605=)
c.13415T= (p.Leu4472=)
c.13403T= (p.Leu4468=)
c.13361T= (p.Leu4454=)
c.13337T= (p.Leu4446=)
c.13307T= (p.Leu4436=)
c.13484T= (p.Leu4495=)
c.13334T= (p.Leu4445=)
c.10034T= (p.Leu3345=)
8g.143916433A>CCA372474663PLECc.13520T>G (p.Leu4507Arg)
c.13439T>G (p.Leu4480Arg)
c.13106T>G (p.Leu4369Arg)
c.13319T>G (p.Leu4440Arg)
c.13388T>G (p.Leu4463Arg)
c.10088T>G (p.Leu3363Arg)
c.13799T>G (p.Leu4600Arg)
c.13322T>G (p.Leu4441Arg)
c.13346T>G (p.Leu4449Arg)
c.13400T>G (p.Leu4467Arg)
c.13292T>G (p.Leu4431Arg)
c.13469T>G (p.Leu4490Arg)
c.13457T>G (p.Leu4486Arg)
c.13814T>G (p.Leu4605Arg)
c.13415T>G (p.Leu4472Arg)
c.13403T>G (p.Leu4468Arg)
c.13361T>G (p.Leu4454Arg)
c.13337T>G (p.Leu4446Arg)
c.13307T>G (p.Leu4436Arg)
c.13484T>G (p.Leu4495Arg)
c.13334T>G (p.Leu4445Arg)
c.10034T>G (p.Leu3345Arg)
8g.143916433A>GCA4923818PLECc.13520T>C (p.Leu4507Pro)
c.13439T>C (p.Leu4480Pro)
c.13106T>C (p.Leu4369Pro)
c.13319T>C (p.Leu4440Pro)
c.13388T>C (p.Leu4463Pro)
c.10088T>C (p.Leu3363Pro)
c.13799T>C (p.Leu4600Pro)
c.13322T>C (p.Leu4441Pro)
c.13346T>C (p.Leu4449Pro)
c.13400T>C (p.Leu4467Pro)
c.13292T>C (p.Leu4431Pro)
c.13469T>C (p.Leu4490Pro)
c.13457T>C (p.Leu4486Pro)
c.13814T>C (p.Leu4605Pro)
c.13415T>C (p.Leu4472Pro)
c.13403T>C (p.Leu4468Pro)
c.13361T>C (p.Leu4454Pro)
c.13337T>C (p.Leu4446Pro)
c.13307T>C (p.Leu4436Pro)
c.13484T>C (p.Leu4495Pro)
c.13334T>C (p.Leu4445Pro)
c.10034T>C (p.Leu3345Pro)
 dbSNP ExAC gnomAD v2
8g.143916433A>TCA372474667PLECc.13520T>A (p.Leu4507Gln)
c.13439T>A (p.Leu4480Gln)
c.13106T>A (p.Leu4369Gln)
c.13319T>A (p.Leu4440Gln)
c.13388T>A (p.Leu4463Gln)
c.10088T>A (p.Leu3363Gln)
c.13799T>A (p.Leu4600Gln)
c.13322T>A (p.Leu4441Gln)
c.13346T>A (p.Leu4449Gln)
c.13400T>A (p.Leu4467Gln)
c.13292T>A (p.Leu4431Gln)
c.13469T>A (p.Leu4490Gln)
c.13457T>A (p.Leu4486Gln)
c.13814T>A (p.Leu4605Gln)
c.13415T>A (p.Leu4472Gln)
c.13403T>A (p.Leu4468Gln)
c.13361T>A (p.Leu4454Gln)
c.13337T>A (p.Leu4446Gln)
c.13307T>A (p.Leu4436Gln)
c.13484T>A (p.Leu4495Gln)
c.13334T>A (p.Leu4445Gln)
c.10034T>A (p.Leu3345Gln)
8g.143916434G>ACA463526486PLECc.13519C>T (p.Leu4507=)
c.13438C>T (p.Leu4480=)
c.13105C>T (p.Leu4369=)
c.13318C>T (p.Leu4440=)
c.13387C>T (p.Leu4463=)
c.10087C>T (p.Leu3363=)
c.13798C>T (p.Leu4600=)
c.13321C>T (p.Leu4441=)
c.13345C>T (p.Leu4449=)
c.13399C>T (p.Leu4467=)
c.13291C>T (p.Leu4431=)
c.13468C>T (p.Leu4490=)
c.13456C>T (p.Leu4486=)
c.13813C>T (p.Leu4605=)
c.13414C>T (p.Leu4472=)
c.13402C>T (p.Leu4468=)
c.13360C>T (p.Leu4454=)
c.13336C>T (p.Leu4446=)
c.13306C>T (p.Leu4436=)
c.13483C>T (p.Leu4495=)
c.13333C>T (p.Leu4445=)
c.10033C>T (p.Leu3345=)
 dbSNP gnomAD v2
8g.143916434G>CCA372474668PLECc.13519C>G (p.Leu4507Val)
c.13438C>G (p.Leu4480Val)
c.13105C>G (p.Leu4369Val)
c.13318C>G (p.Leu4440Val)
c.13387C>G (p.Leu4463Val)
c.10087C>G (p.Leu3363Val)
c.13798C>G (p.Leu4600Val)
c.13321C>G (p.Leu4441Val)
c.13345C>G (p.Leu4449Val)
c.13399C>G (p.Leu4467Val)
c.13291C>G (p.Leu4431Val)
c.13468C>G (p.Leu4490Val)
c.13456C>G (p.Leu4486Val)
c.13813C>G (p.Leu4605Val)
c.13414C>G (p.Leu4472Val)
c.13402C>G (p.Leu4468Val)
c.13360C>G (p.Leu4454Val)
c.13336C>G (p.Leu4446Val)
c.13306C>G (p.Leu4436Val)
c.13483C>G (p.Leu4495Val)
c.13333C>G (p.Leu4445Val)
c.10033C>G (p.Leu3345Val)
8g.143916434G=CA1826037165PLECc.13519C= (p.Leu4507=)
c.13438C= (p.Leu4480=)
c.13105C= (p.Leu4369=)
c.13318C= (p.Leu4440=)
c.13387C= (p.Leu4463=)
c.10087C= (p.Leu3363=)
c.13798C= (p.Leu4600=)
c.13321C= (p.Leu4441=)
c.13345C= (p.Leu4449=)
c.13399C= (p.Leu4467=)
c.13291C= (p.Leu4431=)
c.13468C= (p.Leu4490=)
c.13456C= (p.Leu4486=)
c.13813C= (p.Leu4605=)
c.13414C= (p.Leu4472=)
c.13402C= (p.Leu4468=)
c.13360C= (p.Leu4454=)
c.13336C= (p.Leu4446=)
c.13306C= (p.Leu4436=)
c.13483C= (p.Leu4495=)
c.13333C= (p.Leu4445=)
c.10033C= (p.Leu3345=)
8g.143916434G>TCA372474669PLECc.13519C>A (p.Leu4507Met)
c.13438C>A (p.Leu4480Met)
c.13105C>A (p.Leu4369Met)
c.13318C>A (p.Leu4440Met)
c.13387C>A (p.Leu4463Met)
c.10087C>A (p.Leu3363Met)
c.13798C>A (p.Leu4600Met)
c.13321C>A (p.Leu4441Met)
c.13345C>A (p.Leu4449Met)
c.13399C>A (p.Leu4467Met)
c.13291C>A (p.Leu4431Met)
c.13468C>A (p.Leu4490Met)
c.13456C>A (p.Leu4486Met)
c.13813C>A (p.Leu4605Met)
c.13414C>A (p.Leu4472Met)
c.13402C>A (p.Leu4468Met)
c.13360C>A (p.Leu4454Met)
c.13336C>A (p.Leu4446Met)
c.13306C>A (p.Leu4436Met)
c.13483C>A (p.Leu4495Met)
c.13333C>A (p.Leu4445Met)
c.10033C>A (p.Leu3345Met)
8g.143916435C>ACA4923819PLECc.13518G>T (p.Arg4506=)
c.13437G>T (p.Arg4479=)
c.13104G>T (p.Arg4368=)
c.13317G>T (p.Arg4439=)
c.13386G>T (p.Arg4462=)
c.10086G>T (p.Arg3362=)
c.13797G>T (p.Arg4599=)
c.13320G>T (p.Arg4440=)
c.13344G>T (p.Arg4448=)
c.13398G>T (p.Arg4466=)
c.13290G>T (p.Arg4430=)
c.13467G>T (p.Arg4489=)
c.13455G>T (p.Arg4485=)
c.13812G>T (p.Arg4604=)
c.13413G>T (p.Arg4471=)
c.13401G>T (p.Arg4467=)
c.13359G>T (p.Arg4453=)
c.13335G>T (p.Arg4445=)
c.13305G>T (p.Arg4435=)
c.13482G>T (p.Arg4494=)
c.13332G>T (p.Arg4444=)
c.10032G>T (p.Arg3344=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916435C=CA1826037168PLECc.13518G= (p.Arg4506=)
c.13437G= (p.Arg4479=)
c.13104G= (p.Arg4368=)
c.13317G= (p.Arg4439=)
c.13386G= (p.Arg4462=)
c.10086G= (p.Arg3362=)
c.13797G= (p.Arg4599=)
c.13320G= (p.Arg4440=)
c.13344G= (p.Arg4448=)
c.13398G= (p.Arg4466=)
c.13290G= (p.Arg4430=)
c.13467G= (p.Arg4489=)
c.13455G= (p.Arg4485=)
c.13812G= (p.Arg4604=)
c.13413G= (p.Arg4471=)
c.13401G= (p.Arg4467=)
c.13359G= (p.Arg4453=)
c.13335G= (p.Arg4445=)
c.13305G= (p.Arg4435=)
c.13482G= (p.Arg4494=)
c.13332G= (p.Arg4444=)
c.10032G= (p.Arg3344=)
8g.143916435C>GCA463526488PLECc.13518G>C (p.Arg4506=)
c.13437G>C (p.Arg4479=)
c.13104G>C (p.Arg4368=)
c.13317G>C (p.Arg4439=)
c.13386G>C (p.Arg4462=)
c.10086G>C (p.Arg3362=)
c.13797G>C (p.Arg4599=)
c.13320G>C (p.Arg4440=)
c.13344G>C (p.Arg4448=)
c.13398G>C (p.Arg4466=)
c.13290G>C (p.Arg4430=)
c.13467G>C (p.Arg4489=)
c.13455G>C (p.Arg4485=)
c.13812G>C (p.Arg4604=)
c.13413G>C (p.Arg4471=)
c.13401G>C (p.Arg4467=)
c.13359G>C (p.Arg4453=)
c.13335G>C (p.Arg4445=)
c.13305G>C (p.Arg4435=)
c.13482G>C (p.Arg4494=)
c.13332G>C (p.Arg4444=)
c.10032G>C (p.Arg3344=)
8g.143916435C>TCA463526489PLECc.13518G>A (p.Arg4506=)
c.13437G>A (p.Arg4479=)
c.13104G>A (p.Arg4368=)
c.13317G>A (p.Arg4439=)
c.13386G>A (p.Arg4462=)
c.10086G>A (p.Arg3362=)
c.13797G>A (p.Arg4599=)
c.13320G>A (p.Arg4440=)
c.13344G>A (p.Arg4448=)
c.13398G>A (p.Arg4466=)
c.13290G>A (p.Arg4430=)
c.13467G>A (p.Arg4489=)
c.13455G>A (p.Arg4485=)
c.13812G>A (p.Arg4604=)
c.13413G>A (p.Arg4471=)
c.13401G>A (p.Arg4467=)
c.13359G>A (p.Arg4453=)
c.13335G>A (p.Arg4445=)
c.13305G>A (p.Arg4435=)
c.13482G>A (p.Arg4494=)
c.13332G>A (p.Arg4444=)
c.10032G>A (p.Arg3344=)
8g.143916436C>ACA372474673PLECc.13517G>T (p.Arg4506Leu)
c.13436G>T (p.Arg4479Leu)
c.13103G>T (p.Arg4368Leu)
c.13316G>T (p.Arg4439Leu)
c.13385G>T (p.Arg4462Leu)
c.10085G>T (p.Arg3362Leu)
c.13796G>T (p.Arg4599Leu)
c.13319G>T (p.Arg4440Leu)
c.13343G>T (p.Arg4448Leu)
c.13397G>T (p.Arg4466Leu)
c.13289G>T (p.Arg4430Leu)
c.13466G>T (p.Arg4489Leu)
c.13454G>T (p.Arg4485Leu)
c.13811G>T (p.Arg4604Leu)
c.13412G>T (p.Arg4471Leu)
c.13400G>T (p.Arg4467Leu)
c.13358G>T (p.Arg4453Leu)
c.13334G>T (p.Arg4445Leu)
c.13304G>T (p.Arg4435Leu)
c.13481G>T (p.Arg4494Leu)
c.13331G>T (p.Arg4444Leu)
c.10031G>T (p.Arg3344Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.143916436C=CA1826037173PLECc.13517G= (p.Arg4506=)
c.13436G= (p.Arg4479=)
c.13103G= (p.Arg4368=)
c.13316G= (p.Arg4439=)
c.13385G= (p.Arg4462=)
c.10085G= (p.Arg3362=)
c.13796G= (p.Arg4599=)
c.13319G= (p.Arg4440=)
c.13343G= (p.Arg4448=)
c.13397G= (p.Arg4466=)
c.13289G= (p.Arg4430=)
c.13466G= (p.Arg4489=)
c.13454G= (p.Arg4485=)
c.13811G= (p.Arg4604=)
c.13412G= (p.Arg4471=)
c.13400G= (p.Arg4467=)
c.13358G= (p.Arg4453=)
c.13334G= (p.Arg4445=)
c.13304G= (p.Arg4435=)
c.13481G= (p.Arg4494=)
c.13331G= (p.Arg4444=)
c.10031G= (p.Arg3344=)
8g.143916436C>GCA4923820PLECc.13517G>C (p.Arg4506Pro)
c.13436G>C (p.Arg4479Pro)
c.13103G>C (p.Arg4368Pro)
c.13316G>C (p.Arg4439Pro)
c.13385G>C (p.Arg4462Pro)
c.10085G>C (p.Arg3362Pro)
c.13796G>C (p.Arg4599Pro)
c.13319G>C (p.Arg4440Pro)
c.13343G>C (p.Arg4448Pro)
c.13397G>C (p.Arg4466Pro)
c.13289G>C (p.Arg4430Pro)
c.13466G>C (p.Arg4489Pro)
c.13454G>C (p.Arg4485Pro)
c.13811G>C (p.Arg4604Pro)
c.13412G>C (p.Arg4471Pro)
c.13400G>C (p.Arg4467Pro)
c.13358G>C (p.Arg4453Pro)
c.13334G>C (p.Arg4445Pro)
c.13304G>C (p.Arg4435Pro)
c.13481G>C (p.Arg4494Pro)
c.13331G>C (p.Arg4444Pro)
c.10031G>C (p.Arg3344Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916436C>TCA4923821PLECc.13517G>A (p.Arg4506Gln)
c.13436G>A (p.Arg4479Gln)
c.13103G>A (p.Arg4368Gln)
c.13316G>A (p.Arg4439Gln)
c.13385G>A (p.Arg4462Gln)
c.10085G>A (p.Arg3362Gln)
c.13796G>A (p.Arg4599Gln)
c.13319G>A (p.Arg4440Gln)
c.13343G>A (p.Arg4448Gln)
c.13397G>A (p.Arg4466Gln)
c.13289G>A (p.Arg4430Gln)
c.13466G>A (p.Arg4489Gln)
c.13454G>A (p.Arg4485Gln)
c.13811G>A (p.Arg4604Gln)
c.13412G>A (p.Arg4471Gln)
c.13400G>A (p.Arg4467Gln)
c.13358G>A (p.Arg4453Gln)
c.13334G>A (p.Arg4445Gln)
c.13304G>A (p.Arg4435Gln)
c.13481G>A (p.Arg4494Gln)
c.13331G>A (p.Arg4444Gln)
c.10031G>A (p.Arg3344Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916437G>ACA4923822PLECc.13516C>T (p.Arg4506Trp)
c.13435C>T (p.Arg4479Trp)
c.13102C>T (p.Arg4368Trp)
c.13315C>T (p.Arg4439Trp)
c.13384C>T (p.Arg4462Trp)
c.10084C>T (p.Arg3362Trp)
c.13795C>T (p.Arg4599Trp)
c.13318C>T (p.Arg4440Trp)
c.13342C>T (p.Arg4448Trp)
c.13396C>T (p.Arg4466Trp)
c.13288C>T (p.Arg4430Trp)
c.13465C>T (p.Arg4489Trp)
c.13453C>T (p.Arg4485Trp)
c.13810C>T (p.Arg4604Trp)
c.13411C>T (p.Arg4471Trp)
c.13399C>T (p.Arg4467Trp)
c.13357C>T (p.Arg4453Trp)
c.13333C>T (p.Arg4445Trp)
c.13303C>T (p.Arg4435Trp)
c.13480C>T (p.Arg4494Trp)
c.13330C>T (p.Arg4444Trp)
c.10030C>T (p.Arg3344Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916437G>CCA4923823PLECc.13516C>G (p.Arg4506Gly)
c.13435C>G (p.Arg4479Gly)
c.13102C>G (p.Arg4368Gly)
c.13315C>G (p.Arg4439Gly)
c.13384C>G (p.Arg4462Gly)
c.10084C>G (p.Arg3362Gly)
c.13795C>G (p.Arg4599Gly)
c.13318C>G (p.Arg4440Gly)
c.13342C>G (p.Arg4448Gly)
c.13396C>G (p.Arg4466Gly)
c.13288C>G (p.Arg4430Gly)
c.13465C>G (p.Arg4489Gly)
c.13453C>G (p.Arg4485Gly)
c.13810C>G (p.Arg4604Gly)
c.13411C>G (p.Arg4471Gly)
c.13399C>G (p.Arg4467Gly)
c.13357C>G (p.Arg4453Gly)
c.13333C>G (p.Arg4445Gly)
c.13303C>G (p.Arg4435Gly)
c.13480C>G (p.Arg4494Gly)
c.13330C>G (p.Arg4444Gly)
c.10030C>G (p.Arg3344Gly)
 dbSNP ExAC gnomAD v2
8g.143916437G=CA1826037178PLECc.13516C= (p.Arg4506=)
c.13435C= (p.Arg4479=)
c.13102C= (p.Arg4368=)
c.13315C= (p.Arg4439=)
c.13384C= (p.Arg4462=)
c.10084C= (p.Arg3362=)
c.13795C= (p.Arg4599=)
c.13318C= (p.Arg4440=)
c.13342C= (p.Arg4448=)
c.13396C= (p.Arg4466=)
c.13288C= (p.Arg4430=)
c.13465C= (p.Arg4489=)
c.13453C= (p.Arg4485=)
c.13810C= (p.Arg4604=)
c.13411C= (p.Arg4471=)
c.13399C= (p.Arg4467=)
c.13357C= (p.Arg4453=)
c.13333C= (p.Arg4445=)
c.13303C= (p.Arg4435=)
c.13480C= (p.Arg4494=)
c.13330C= (p.Arg4444=)
c.10030C= (p.Arg3344=)
8g.143916437G>TCA463526494PLECc.13516C>A (p.Arg4506=)
c.13435C>A (p.Arg4479=)
c.13102C>A (p.Arg4368=)
c.13315C>A (p.Arg4439=)
c.13384C>A (p.Arg4462=)
c.10084C>A (p.Arg3362=)
c.13795C>A (p.Arg4599=)
c.13318C>A (p.Arg4440=)
c.13342C>A (p.Arg4448=)
c.13396C>A (p.Arg4466=)
c.13288C>A (p.Arg4430=)
c.13465C>A (p.Arg4489=)
c.13453C>A (p.Arg4485=)
c.13810C>A (p.Arg4604=)
c.13411C>A (p.Arg4471=)
c.13399C>A (p.Arg4467=)
c.13357C>A (p.Arg4453=)
c.13333C>A (p.Arg4445=)
c.13303C>A (p.Arg4435=)
c.13480C>A (p.Arg4494=)
c.13330C>A (p.Arg4444=)
c.10030C>A (p.Arg3344=)
 dbSNP gnomAD v2 gnomAD v4
8g.143916438C>ACA463526499PLECc.13515G>T (p.Leu4505=)
c.13434G>T (p.Leu4478=)
c.13101G>T (p.Leu4367=)
c.13314G>T (p.Leu4438=)
c.13383G>T (p.Leu4461=)
c.10083G>T (p.Leu3361=)
c.13794G>T (p.Leu4598=)
c.13317G>T (p.Leu4439=)
c.13341G>T (p.Leu4447=)
c.13395G>T (p.Leu4465=)
c.13287G>T (p.Leu4429=)
c.13464G>T (p.Leu4488=)
c.13452G>T (p.Leu4484=)
c.13809G>T (p.Leu4603=)
c.13410G>T (p.Leu4470=)
c.13398G>T (p.Leu4466=)
c.13356G>T (p.Leu4452=)
c.13332G>T (p.Leu4444=)
c.13302G>T (p.Leu4434=)
c.13479G>T (p.Leu4493=)
c.13329G>T (p.Leu4443=)
c.10029G>T (p.Leu3343=)
 ClinVar dbSNP
8g.143916438C=CA1826037182PLECc.13515G= (p.Leu4505=)
c.13434G= (p.Leu4478=)
c.13101G= (p.Leu4367=)
c.13314G= (p.Leu4438=)
c.13383G= (p.Leu4461=)
c.10083G= (p.Leu3361=)
c.13794G= (p.Leu4598=)
c.13317G= (p.Leu4439=)
c.13341G= (p.Leu4447=)
c.13395G= (p.Leu4465=)
c.13287G= (p.Leu4429=)
c.13464G= (p.Leu4488=)
c.13452G= (p.Leu4484=)
c.13809G= (p.Leu4603=)
c.13410G= (p.Leu4470=)
c.13398G= (p.Leu4466=)
c.13356G= (p.Leu4452=)
c.13332G= (p.Leu4444=)
c.13302G= (p.Leu4434=)
c.13479G= (p.Leu4493=)
c.13329G= (p.Leu4443=)
c.10029G= (p.Leu3343=)
8g.143916438C>GCA463526497PLECc.13515G>C (p.Leu4505=)
c.13434G>C (p.Leu4478=)
c.13101G>C (p.Leu4367=)
c.13314G>C (p.Leu4438=)
c.13383G>C (p.Leu4461=)
c.10083G>C (p.Leu3361=)
c.13794G>C (p.Leu4598=)
c.13317G>C (p.Leu4439=)
c.13341G>C (p.Leu4447=)
c.13395G>C (p.Leu4465=)
c.13287G>C (p.Leu4429=)
c.13464G>C (p.Leu4488=)
c.13452G>C (p.Leu4484=)
c.13809G>C (p.Leu4603=)
c.13410G>C (p.Leu4470=)
c.13398G>C (p.Leu4466=)
c.13356G>C (p.Leu4452=)
c.13332G>C (p.Leu4444=)
c.13302G>C (p.Leu4434=)
c.13479G>C (p.Leu4493=)
c.13329G>C (p.Leu4443=)
c.10029G>C (p.Leu3343=)
8g.143916438C>TCA463526498PLECc.13515G>A (p.Leu4505=)
c.13434G>A (p.Leu4478=)
c.13101G>A (p.Leu4367=)
c.13314G>A (p.Leu4438=)
c.13383G>A (p.Leu4461=)
c.10083G>A (p.Leu3361=)
c.13794G>A (p.Leu4598=)
c.13317G>A (p.Leu4439=)
c.13341G>A (p.Leu4447=)
c.13395G>A (p.Leu4465=)
c.13287G>A (p.Leu4429=)
c.13464G>A (p.Leu4488=)
c.13452G>A (p.Leu4484=)
c.13809G>A (p.Leu4603=)
c.13410G>A (p.Leu4470=)
c.13398G>A (p.Leu4466=)
c.13356G>A (p.Leu4452=)
c.13332G>A (p.Leu4444=)
c.13302G>A (p.Leu4434=)
c.13479G>A (p.Leu4493=)
c.13329G>A (p.Leu4443=)
c.10029G>A (p.Leu3343=)
8g.143916439A>CCA372474679PLECc.13514T>G (p.Leu4505Arg)
c.13433T>G (p.Leu4478Arg)
c.13100T>G (p.Leu4367Arg)
c.13313T>G (p.Leu4438Arg)
c.13382T>G (p.Leu4461Arg)
c.10082T>G (p.Leu3361Arg)
c.13793T>G (p.Leu4598Arg)
c.13316T>G (p.Leu4439Arg)
c.13340T>G (p.Leu4447Arg)
c.13394T>G (p.Leu4465Arg)
c.13286T>G (p.Leu4429Arg)
c.13463T>G (p.Leu4488Arg)
c.13451T>G (p.Leu4484Arg)
c.13808T>G (p.Leu4603Arg)
c.13409T>G (p.Leu4470Arg)
c.13397T>G (p.Leu4466Arg)
c.13355T>G (p.Leu4452Arg)
c.13331T>G (p.Leu4444Arg)
c.13301T>G (p.Leu4434Arg)
c.13478T>G (p.Leu4493Arg)
c.13328T>G (p.Leu4443Arg)
c.10028T>G (p.Leu3343Arg)
8g.143916439A>GCA372474682PLECc.13514T>C (p.Leu4505Pro)
c.13433T>C (p.Leu4478Pro)
c.13100T>C (p.Leu4367Pro)
c.13313T>C (p.Leu4438Pro)
c.13382T>C (p.Leu4461Pro)
c.10082T>C (p.Leu3361Pro)
c.13793T>C (p.Leu4598Pro)
c.13316T>C (p.Leu4439Pro)
c.13340T>C (p.Leu4447Pro)
c.13394T>C (p.Leu4465Pro)
c.13286T>C (p.Leu4429Pro)
c.13463T>C (p.Leu4488Pro)
c.13451T>C (p.Leu4484Pro)
c.13808T>C (p.Leu4603Pro)
c.13409T>C (p.Leu4470Pro)
c.13397T>C (p.Leu4466Pro)
c.13355T>C (p.Leu4452Pro)
c.13331T>C (p.Leu4444Pro)
c.13301T>C (p.Leu4434Pro)
c.13478T>C (p.Leu4493Pro)
c.13328T>C (p.Leu4443Pro)
c.10028T>C (p.Leu3343Pro)
8g.143916439A>TCA372474680PLECc.13514T>A (p.Leu4505Gln)
c.13433T>A (p.Leu4478Gln)
c.13100T>A (p.Leu4367Gln)
c.13313T>A (p.Leu4438Gln)
c.13382T>A (p.Leu4461Gln)
c.10082T>A (p.Leu3361Gln)
c.13793T>A (p.Leu4598Gln)
c.13316T>A (p.Leu4439Gln)
c.13340T>A (p.Leu4447Gln)
c.13394T>A (p.Leu4465Gln)
c.13286T>A (p.Leu4429Gln)
c.13463T>A (p.Leu4488Gln)
c.13451T>A (p.Leu4484Gln)
c.13808T>A (p.Leu4603Gln)
c.13409T>A (p.Leu4470Gln)
c.13397T>A (p.Leu4466Gln)
c.13355T>A (p.Leu4452Gln)
c.13331T>A (p.Leu4444Gln)
c.13301T>A (p.Leu4434Gln)
c.13478T>A (p.Leu4493Gln)
c.13328T>A (p.Leu4443Gln)
c.10028T>A (p.Leu3343Gln)
 dbSNP gnomAD v3 gnomAD v4
8g.143916440G>ACA463526503PLECc.13513C>T (p.Leu4505=)
c.13432C>T (p.Leu4478=)
c.13099C>T (p.Leu4367=)
c.13312C>T (p.Leu4438=)
c.13381C>T (p.Leu4461=)
c.10081C>T (p.Leu3361=)
c.13792C>T (p.Leu4598=)
c.13315C>T (p.Leu4439=)
c.13339C>T (p.Leu4447=)
c.13393C>T (p.Leu4465=)
c.13285C>T (p.Leu4429=)
c.13462C>T (p.Leu4488=)
c.13450C>T (p.Leu4484=)
c.13807C>T (p.Leu4603=)
c.13408C>T (p.Leu4470=)
c.13396C>T (p.Leu4466=)
c.13354C>T (p.Leu4452=)
c.13330C>T (p.Leu4444=)
c.13300C>T (p.Leu4434=)
c.13477C>T (p.Leu4493=)
c.13327C>T (p.Leu4443=)
c.10027C>T (p.Leu3343=)
 dbSNP gnomAD v3 gnomAD v4
8g.143916440G>CCA372474685PLECc.13513C>G (p.Leu4505Val)
c.13432C>G (p.Leu4478Val)
c.13099C>G (p.Leu4367Val)
c.13312C>G (p.Leu4438Val)
c.13381C>G (p.Leu4461Val)
c.10081C>G (p.Leu3361Val)
c.13792C>G (p.Leu4598Val)
c.13315C>G (p.Leu4439Val)
c.13339C>G (p.Leu4447Val)
c.13393C>G (p.Leu4465Val)
c.13285C>G (p.Leu4429Val)
c.13462C>G (p.Leu4488Val)
c.13450C>G (p.Leu4484Val)
c.13807C>G (p.Leu4603Val)
c.13408C>G (p.Leu4470Val)
c.13396C>G (p.Leu4466Val)
c.13354C>G (p.Leu4452Val)
c.13330C>G (p.Leu4444Val)
c.13300C>G (p.Leu4434Val)
c.13477C>G (p.Leu4493Val)
c.13327C>G (p.Leu4443Val)
c.10027C>G (p.Leu3343Val)
8g.143916440G=CA1826037188PLECc.13513C= (p.Leu4505=)
c.13432C= (p.Leu4478=)
c.13099C= (p.Leu4367=)
c.13312C= (p.Leu4438=)
c.13381C= (p.Leu4461=)
c.10081C= (p.Leu3361=)
c.13792C= (p.Leu4598=)
c.13315C= (p.Leu4439=)
c.13339C= (p.Leu4447=)
c.13393C= (p.Leu4465=)
c.13285C= (p.Leu4429=)
c.13462C= (p.Leu4488=)
c.13450C= (p.Leu4484=)
c.13807C= (p.Leu4603=)
c.13408C= (p.Leu4470=)
c.13396C= (p.Leu4466=)
c.13354C= (p.Leu4452=)
c.13330C= (p.Leu4444=)
c.13300C= (p.Leu4434=)
c.13477C= (p.Leu4493=)
c.13327C= (p.Leu4443=)
c.10027C= (p.Leu3343=)
8g.143916440G>TCA372474687PLECc.13513C>A (p.Leu4505Met)
c.13432C>A (p.Leu4478Met)
c.13099C>A (p.Leu4367Met)
c.13312C>A (p.Leu4438Met)
c.13381C>A (p.Leu4461Met)
c.10081C>A (p.Leu3361Met)
c.13792C>A (p.Leu4598Met)
c.13315C>A (p.Leu4439Met)
c.13339C>A (p.Leu4447Met)
c.13393C>A (p.Leu4465Met)
c.13285C>A (p.Leu4429Met)
c.13462C>A (p.Leu4488Met)
c.13450C>A (p.Leu4484Met)
c.13807C>A (p.Leu4603Met)
c.13408C>A (p.Leu4470Met)
c.13396C>A (p.Leu4466Met)
c.13354C>A (p.Leu4452Met)
c.13330C>A (p.Leu4444Met)
c.13300C>A (p.Leu4434Met)
c.13477C>A (p.Leu4493Met)
c.13327C>A (p.Leu4443Met)
c.10027C>A (p.Leu3343Met)
8g.143916441C>ACA4923824PLECc.13512G>T (p.Gly4504=)
c.13431G>T (p.Gly4477=)
c.13098G>T (p.Gly4366=)
c.13311G>T (p.Gly4437=)
c.13380G>T (p.Gly4460=)
c.10080G>T (p.Gly3360=)
c.13791G>T (p.Gly4597=)
c.13314G>T (p.Gly4438=)
c.13338G>T (p.Gly4446=)
c.13392G>T (p.Gly4464=)
c.13284G>T (p.Gly4428=)
c.13461G>T (p.Gly4487=)
c.13449G>T (p.Gly4483=)
c.13806G>T (p.Gly4602=)
c.13407G>T (p.Gly4469=)
c.13395G>T (p.Gly4465=)
c.13353G>T (p.Gly4451=)
c.13329G>T (p.Gly4443=)
c.13299G>T (p.Gly4433=)
c.13476G>T (p.Gly4492=)
c.13326G>T (p.Gly4442=)
c.10026G>T (p.Gly3342=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916441C=CA1826037191PLECc.13512G= (p.Gly4504=)
c.13431G= (p.Gly4477=)
c.13098G= (p.Gly4366=)
c.13311G= (p.Gly4437=)
c.13380G= (p.Gly4460=)
c.10080G= (p.Gly3360=)
c.13791G= (p.Gly4597=)
c.13314G= (p.Gly4438=)
c.13338G= (p.Gly4446=)
c.13392G= (p.Gly4464=)
c.13284G= (p.Gly4428=)
c.13461G= (p.Gly4487=)
c.13449G= (p.Gly4483=)
c.13806G= (p.Gly4602=)
c.13407G= (p.Gly4469=)
c.13395G= (p.Gly4465=)
c.13353G= (p.Gly4451=)
c.13329G= (p.Gly4443=)
c.13299G= (p.Gly4433=)
c.13476G= (p.Gly4492=)
c.13326G= (p.Gly4442=)
c.10026G= (p.Gly3342=)
8g.143916441C>GCA463526510PLECc.13512G>C (p.Gly4504=)
c.13431G>C (p.Gly4477=)
c.13098G>C (p.Gly4366=)
c.13311G>C (p.Gly4437=)
c.13380G>C (p.Gly4460=)
c.10080G>C (p.Gly3360=)
c.13791G>C (p.Gly4597=)
c.13314G>C (p.Gly4438=)
c.13338G>C (p.Gly4446=)
c.13392G>C (p.Gly4464=)
c.13284G>C (p.Gly4428=)
c.13461G>C (p.Gly4487=)
c.13449G>C (p.Gly4483=)
c.13806G>C (p.Gly4602=)
c.13407G>C (p.Gly4469=)
c.13395G>C (p.Gly4465=)
c.13353G>C (p.Gly4451=)
c.13329G>C (p.Gly4443=)
c.13299G>C (p.Gly4433=)
c.13476G>C (p.Gly4492=)
c.13326G>C (p.Gly4442=)
c.10026G>C (p.Gly3342=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.143916441C>TCA463526512PLECc.13512G>A (p.Gly4504=)
c.13431G>A (p.Gly4477=)
c.13098G>A (p.Gly4366=)
c.13311G>A (p.Gly4437=)
c.13380G>A (p.Gly4460=)
c.10080G>A (p.Gly3360=)
c.13791G>A (p.Gly4597=)
c.13314G>A (p.Gly4438=)
c.13338G>A (p.Gly4446=)
c.13392G>A (p.Gly4464=)
c.13284G>A (p.Gly4428=)
c.13461G>A (p.Gly4487=)
c.13449G>A (p.Gly4483=)
c.13806G>A (p.Gly4602=)
c.13407G>A (p.Gly4469=)
c.13395G>A (p.Gly4465=)
c.13353G>A (p.Gly4451=)
c.13329G>A (p.Gly4443=)
c.13299G>A (p.Gly4433=)
c.13476G>A (p.Gly4492=)
c.13326G>A (p.Gly4442=)
c.10026G>A (p.Gly3342=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143916444dupCA187606131PLECc.13512dup (p.Leu4505AlafsTer?)
c.13431dup (p.Leu4478AlafsTer?)
c.13098dup (p.Leu4367AlafsTer?)
c.13311dup (p.Leu4438AlafsTer?)
c.13380dup (p.Leu4461AlafsTer?)
c.10080dup (p.Leu3361AlafsTer?)
c.13791dup (p.Leu4598AlafsTer?)
c.13314dup (p.Leu4439AlafsTer?)
c.13338dup (p.Leu4447AlafsTer?)
c.13392dup (p.Leu4465AlafsTer?)
c.13284dup (p.Leu4429AlafsTer?)
c.13461dup (p.Leu4488AlafsTer?)
c.13449dup (p.Leu4484AlafsTer?)
c.13806dup (p.Leu4603AlafsTer?)
c.13407dup (p.Leu4470AlafsTer?)
c.13395dup (p.Leu4466AlafsTer?)
c.13353dup (p.Leu4452AlafsTer?)
c.13329dup (p.Leu4444AlafsTer?)
c.13299dup (p.Leu4434AlafsTer?)
c.13476dup (p.Leu4493AlafsTer?)
c.13326dup (p.Leu4443AlafsTer?)
c.10026dup (p.Leu3343AlafsTer?)
 dbSNP
8g.143916442C>ACA372474691PLECc.13511G>T (p.Gly4504Val)
c.13430G>T (p.Gly4477Val)
c.13097G>T (p.Gly4366Val)
c.13310G>T (p.Gly4437Val)
c.13379G>T (p.Gly4460Val)
c.10079G>T (p.Gly3360Val)
c.13790G>T (p.Gly4597Val)
c.13313G>T (p.Gly4438Val)
c.13337G>T (p.Gly4446Val)
c.13391G>T (p.Gly4464Val)
c.13283G>T (p.Gly4428Val)
c.13460G>T (p.Gly4487Val)
c.13448G>T (p.Gly4483Val)
c.13805G>T (p.Gly4602Val)
c.13406G>T (p.Gly4469Val)
c.13394G>T (p.Gly4465Val)
c.13352G>T (p.Gly4451Val)
c.13328G>T (p.Gly4443Val)
c.13298G>T (p.Gly4433Val)
c.13475G>T (p.Gly4492Val)
c.13325G>T (p.Gly4442Val)
c.10025G>T (p.Gly3342Val)
8g.143916442C=CA1826037194PLECc.13511G= (p.Gly4504=)
c.13430G= (p.Gly4477=)
c.13097G= (p.Gly4366=)
c.13310G= (p.Gly4437=)
c.13379G= (p.Gly4460=)
c.10079G= (p.Gly3360=)
c.13790G= (p.Gly4597=)
c.13313G= (p.Gly4438=)
c.13337G= (p.Gly4446=)
c.13391G= (p.Gly4464=)
c.13283G= (p.Gly4428=)
c.13460G= (p.Gly4487=)
c.13448G= (p.Gly4483=)
c.13805G= (p.Gly4602=)
c.13406G= (p.Gly4469=)
c.13394G= (p.Gly4465=)
c.13352G= (p.Gly4451=)
c.13328G= (p.Gly4443=)
c.13298G= (p.Gly4433=)
c.13475G= (p.Gly4492=)
c.13325G= (p.Gly4442=)
c.10025G= (p.Gly3342=)
8g.143916442C>GCA372474693PLECc.13511G>C (p.Gly4504Ala)
c.13430G>C (p.Gly4477Ala)
c.13097G>C (p.Gly4366Ala)
c.13310G>C (p.Gly4437Ala)
c.13379G>C (p.Gly4460Ala)
c.10079G>C (p.Gly3360Ala)
c.13790G>C (p.Gly4597Ala)
c.13313G>C (p.Gly4438Ala)
c.13337G>C (p.Gly4446Ala)
c.13391G>C (p.Gly4464Ala)
c.13283G>C (p.Gly4428Ala)
c.13460G>C (p.Gly4487Ala)
c.13448G>C (p.Gly4483Ala)
c.13805G>C (p.Gly4602Ala)
c.13406G>C (p.Gly4469Ala)
c.13394G>C (p.Gly4465Ala)
c.13352G>C (p.Gly4451Ala)
c.13328G>C (p.Gly4443Ala)
c.13298G>C (p.Gly4433Ala)
c.13475G>C (p.Gly4492Ala)
c.13325G>C (p.Gly4442Ala)
c.10025G>C (p.Gly3342Ala)
8g.143916442C>TCA372474694PLECc.13511G>A (p.Gly4504Glu)
c.13430G>A (p.Gly4477Glu)
c.13097G>A (p.Gly4366Glu)
c.13310G>A (p.Gly4437Glu)
c.13379G>A (p.Gly4460Glu)
c.10079G>A (p.Gly3360Glu)
c.13790G>A (p.Gly4597Glu)
c.13313G>A (p.Gly4438Glu)
c.13337G>A (p.Gly4446Glu)
c.13391G>A (p.Gly4464Glu)
c.13283G>A (p.Gly4428Glu)
c.13460G>A (p.Gly4487Glu)
c.13448G>A (p.Gly4483Glu)
c.13805G>A (p.Gly4602Glu)
c.13406G>A (p.Gly4469Glu)
c.13394G>A (p.Gly4465Glu)
c.13352G>A (p.Gly4451Glu)
c.13328G>A (p.Gly4443Glu)
c.13298G>A (p.Gly4433Glu)
c.13475G>A (p.Gly4492Glu)
c.13325G>A (p.Gly4442Glu)
c.10025G>A (p.Gly3342Glu)
 dbSNP
8g.143916443C>ACA372474697PLECc.13510G>T (p.Gly4504Trp)
c.13429G>T (p.Gly4477Trp)
c.13096G>T (p.Gly4366Trp)
c.13309G>T (p.Gly4437Trp)
c.13378G>T (p.Gly4460Trp)
c.10078G>T (p.Gly3360Trp)
c.13789G>T (p.Gly4597Trp)
c.13312G>T (p.Gly4438Trp)
c.13336G>T (p.Gly4446Trp)
c.13390G>T (p.Gly4464Trp)
c.13282G>T (p.Gly4428Trp)
c.13459G>T (p.Gly4487Trp)
c.13447G>T (p.Gly4483Trp)
c.13804G>T (p.Gly4602Trp)
c.13405G>T (p.Gly4469Trp)
c.13393G>T (p.Gly4465Trp)
c.13351G>T (p.Gly4451Trp)
c.13327G>T (p.Gly4443Trp)
c.13297G>T (p.Gly4433Trp)
c.13474G>T (p.Gly4492Trp)
c.13324G>T (p.Gly4442Trp)
c.10024G>T (p.Gly3342Trp)
8g.143916443C>GCA372474699PLECc.13510G>C (p.Gly4504Arg)
c.13429G>C (p.Gly4477Arg)
c.13096G>C (p.Gly4366Arg)
c.13309G>C (p.Gly4437Arg)
c.13378G>C (p.Gly4460Arg)
c.10078G>C (p.Gly3360Arg)
c.13789G>C (p.Gly4597Arg)
c.13312G>C (p.Gly4438Arg)
c.13336G>C (p.Gly4446Arg)
c.13390G>C (p.Gly4464Arg)
c.13282G>C (p.Gly4428Arg)
c.13459G>C (p.Gly4487Arg)
c.13447G>C (p.Gly4483Arg)
c.13804G>C (p.Gly4602Arg)
c.13405G>C (p.Gly4469Arg)
c.13393G>C (p.Gly4465Arg)
c.13351G>C (p.Gly4451Arg)
c.13327G>C (p.Gly4443Arg)
c.13297G>C (p.Gly4433Arg)
c.13474G>C (p.Gly4492Arg)
c.13324G>C (p.Gly4442Arg)
c.10024G>C (p.Gly3342Arg)
8g.143916443C>TCA372474700PLECc.13510G>A (p.Gly4504Arg)
c.13429G>A (p.Gly4477Arg)
c.13096G>A (p.Gly4366Arg)
c.13309G>A (p.Gly4437Arg)
c.13378G>A (p.Gly4460Arg)
c.10078G>A (p.Gly3360Arg)
c.13789G>A (p.Gly4597Arg)
c.13312G>A (p.Gly4438Arg)
c.13336G>A (p.Gly4446Arg)
c.13390G>A (p.Gly4464Arg)
c.13282G>A (p.Gly4428Arg)
c.13459G>A (p.Gly4487Arg)
c.13447G>A (p.Gly4483Arg)
c.13804G>A (p.Gly4602Arg)
c.13405G>A (p.Gly4469Arg)
c.13393G>A (p.Gly4465Arg)
c.13351G>A (p.Gly4451Arg)
c.13327G>A (p.Gly4443Arg)
c.13297G>A (p.Gly4433Arg)
c.13474G>A (p.Gly4492Arg)
c.13324G>A (p.Gly4442Arg)
c.10024G>A (p.Gly3342Arg)
8g.143916444C>ACA463526513PLECc.13509G>T (p.Thr4503=)
c.13428G>T (p.Thr4476=)
c.13095G>T (p.Thr4365=)
c.13308G>T (p.Thr4436=)
c.13377G>T (p.Thr4459=)
c.10077G>T (p.Thr3359=)
c.13788G>T (p.Thr4596=)
c.13311G>T (p.Thr4437=)
c.13335G>T (p.Thr4445=)
c.13389G>T (p.Thr4463=)
c.13281G>T (p.Thr4427=)
c.13458G>T (p.Thr4486=)
c.13446G>T (p.Thr4482=)
c.13803G>T (p.Thr4601=)
c.13404G>T (p.Thr4468=)
c.13392G>T (p.Thr4464=)
c.13350G>T (p.Thr4450=)
c.13326G>T (p.Thr4442=)
c.13296G>T (p.Thr4432=)
c.13473G>T (p.Thr4491=)
c.13323G>T (p.Thr4441=)
c.10023G>T (p.Thr3341=)
8g.143916444C=CA1826037197PLECc.13509G= (p.Thr4503=)
c.13428G= (p.Thr4476=)
c.13095G= (p.Thr4365=)
c.13308G= (p.Thr4436=)
c.13377G= (p.Thr4459=)
c.10077G= (p.Thr3359=)
c.13788G= (p.Thr4596=)
c.13311G= (p.Thr4437=)
c.13335G= (p.Thr4445=)
c.13389G= (p.Thr4463=)
c.13281G= (p.Thr4427=)
c.13458G= (p.Thr4486=)
c.13446G= (p.Thr4482=)
c.13803G= (p.Thr4601=)
c.13404G= (p.Thr4468=)
c.13392G= (p.Thr4464=)
c.13350G= (p.Thr4450=)
c.13326G= (p.Thr4442=)
c.13296G= (p.Thr4432=)
c.13473G= (p.Thr4491=)
c.13323G= (p.Thr4441=)
c.10023G= (p.Thr3341=)
8g.143916444C>GCA463526515PLECc.13509G>C (p.Thr4503=)
c.13428G>C (p.Thr4476=)
c.13095G>C (p.Thr4365=)
c.13308G>C (p.Thr4436=)
c.13377G>C (p.Thr4459=)
c.10077G>C (p.Thr3359=)
c.13788G>C (p.Thr4596=)
c.13311G>C (p.Thr4437=)
c.13335G>C (p.Thr4445=)
c.13389G>C (p.Thr4463=)
c.13281G>C (p.Thr4427=)
c.13458G>C (p.Thr4486=)
c.13446G>C (p.Thr4482=)
c.13803G>C (p.Thr4601=)
c.13404G>C (p.Thr4468=)
c.13392G>C (p.Thr4464=)
c.13350G>C (p.Thr4450=)
c.13326G>C (p.Thr4442=)
c.13296G>C (p.Thr4432=)
c.13473G>C (p.Thr4491=)
c.13323G>C (p.Thr4441=)
c.10023G>C (p.Thr3341=)
8g.143916444C>TCA4923825PLECc.13509G>A (p.Thr4503=)
c.13428G>A (p.Thr4476=)
c.13095G>A (p.Thr4365=)
c.13308G>A (p.Thr4436=)
c.13377G>A (p.Thr4459=)
c.10077G>A (p.Thr3359=)
c.13788G>A (p.Thr4596=)
c.13311G>A (p.Thr4437=)
c.13335G>A (p.Thr4445=)
c.13389G>A (p.Thr4463=)
c.13281G>A (p.Thr4427=)
c.13458G>A (p.Thr4486=)
c.13446G>A (p.Thr4482=)
c.13803G>A (p.Thr4601=)
c.13404G>A (p.Thr4468=)
c.13392G>A (p.Thr4464=)
c.13350G>A (p.Thr4450=)
c.13326G>A (p.Thr4442=)
c.13296G>A (p.Thr4432=)
c.13473G>A (p.Thr4491=)
c.13323G>A (p.Thr4441=)
c.10023G>A (p.Thr3341=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916445G>ACA372474708PLECc.13508C>T (p.Thr4503Met)
c.13427C>T (p.Thr4476Met)
c.13094C>T (p.Thr4365Met)
c.13307C>T (p.Thr4436Met)
c.13376C>T (p.Thr4459Met)
c.10076C>T (p.Thr3359Met)
c.13787C>T (p.Thr4596Met)
c.13310C>T (p.Thr4437Met)
c.13334C>T (p.Thr4445Met)
c.13388C>T (p.Thr4463Met)
c.13280C>T (p.Thr4427Met)
c.13457C>T (p.Thr4486Met)
c.13445C>T (p.Thr4482Met)
c.13802C>T (p.Thr4601Met)
c.13403C>T (p.Thr4468Met)
c.13391C>T (p.Thr4464Met)
c.13349C>T (p.Thr4450Met)
c.13325C>T (p.Thr4442Met)
c.13295C>T (p.Thr4432Met)
c.13472C>T (p.Thr4491Met)
c.13322C>T (p.Thr4441Met)
c.10022C>T (p.Thr3341Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143916445G>CCA372474707PLECc.13508C>G (p.Thr4503Arg)
c.13427C>G (p.Thr4476Arg)
c.13094C>G (p.Thr4365Arg)
c.13307C>G (p.Thr4436Arg)
c.13376C>G (p.Thr4459Arg)
c.10076C>G (p.Thr3359Arg)
c.13787C>G (p.Thr4596Arg)
c.13310C>G (p.Thr4437Arg)
c.13334C>G (p.Thr4445Arg)
c.13388C>G (p.Thr4463Arg)
c.13280C>G (p.Thr4427Arg)
c.13457C>G (p.Thr4486Arg)
c.13445C>G (p.Thr4482Arg)
c.13802C>G (p.Thr4601Arg)
c.13403C>G (p.Thr4468Arg)
c.13391C>G (p.Thr4464Arg)
c.13349C>G (p.Thr4450Arg)
c.13325C>G (p.Thr4442Arg)
c.13295C>G (p.Thr4432Arg)
c.13472C>G (p.Thr4491Arg)
c.13322C>G (p.Thr4441Arg)
c.10022C>G (p.Thr3341Arg)
8g.143916445G=CA1826037200PLECc.13508C= (p.Thr4503=)
c.13427C= (p.Thr4476=)
c.13094C= (p.Thr4365=)
c.13307C= (p.Thr4436=)
c.13376C= (p.Thr4459=)
c.10076C= (p.Thr3359=)
c.13787C= (p.Thr4596=)
c.13310C= (p.Thr4437=)
c.13334C= (p.Thr4445=)
c.13388C= (p.Thr4463=)
c.13280C= (p.Thr4427=)
c.13457C= (p.Thr4486=)
c.13445C= (p.Thr4482=)
c.13802C= (p.Thr4601=)
c.13403C= (p.Thr4468=)
c.13391C= (p.Thr4464=)
c.13349C= (p.Thr4450=)
c.13325C= (p.Thr4442=)
c.13295C= (p.Thr4432=)
c.13472C= (p.Thr4491=)
c.13322C= (p.Thr4441=)
c.10022C= (p.Thr3341=)
8g.143916445G>TCA372474704PLECc.13508C>A (p.Thr4503Lys)
c.13427C>A (p.Thr4476Lys)
c.13094C>A (p.Thr4365Lys)
c.13307C>A (p.Thr4436Lys)
c.13376C>A (p.Thr4459Lys)
c.10076C>A (p.Thr3359Lys)
c.13787C>A (p.Thr4596Lys)
c.13310C>A (p.Thr4437Lys)
c.13334C>A (p.Thr4445Lys)
c.13388C>A (p.Thr4463Lys)
c.13280C>A (p.Thr4427Lys)
c.13457C>A (p.Thr4486Lys)
c.13445C>A (p.Thr4482Lys)
c.13802C>A (p.Thr4601Lys)
c.13403C>A (p.Thr4468Lys)
c.13391C>A (p.Thr4464Lys)
c.13349C>A (p.Thr4450Lys)
c.13325C>A (p.Thr4442Lys)
c.13295C>A (p.Thr4432Lys)
c.13472C>A (p.Thr4491Lys)
c.13322C>A (p.Thr4441Lys)
c.10022C>A (p.Thr3341Lys)
8g.143916446T>ACA372474710PLECc.13507A>T (p.Thr4503Ser)
c.13426A>T (p.Thr4476Ser)
c.13093A>T (p.Thr4365Ser)
c.13306A>T (p.Thr4436Ser)
c.13375A>T (p.Thr4459Ser)
c.10075A>T (p.Thr3359Ser)
c.13786A>T (p.Thr4596Ser)
c.13309A>T (p.Thr4437Ser)
c.13333A>T (p.Thr4445Ser)
c.13387A>T (p.Thr4463Ser)
c.13279A>T (p.Thr4427Ser)
c.13456A>T (p.Thr4486Ser)
c.13444A>T (p.Thr4482Ser)
c.13801A>T (p.Thr4601Ser)
c.13402A>T (p.Thr4468Ser)
c.13390A>T (p.Thr4464Ser)
c.13348A>T (p.Thr4450Ser)
c.13324A>T (p.Thr4442Ser)
c.13294A>T (p.Thr4432Ser)
c.13471A>T (p.Thr4491Ser)
c.13321A>T (p.Thr4441Ser)
c.10021A>T (p.Thr3341Ser)
8g.143916446T>CCA372474713PLECc.13507A>G (p.Thr4503Ala)
c.13426A>G (p.Thr4476Ala)
c.13093A>G (p.Thr4365Ala)
c.13306A>G (p.Thr4436Ala)
c.13375A>G (p.Thr4459Ala)
c.10075A>G (p.Thr3359Ala)
c.13786A>G (p.Thr4596Ala)
c.13309A>G (p.Thr4437Ala)
c.13333A>G (p.Thr4445Ala)
c.13387A>G (p.Thr4463Ala)
c.13279A>G (p.Thr4427Ala)
c.13456A>G (p.Thr4486Ala)
c.13444A>G (p.Thr4482Ala)
c.13801A>G (p.Thr4601Ala)
c.13402A>G (p.Thr4468Ala)
c.13390A>G (p.Thr4464Ala)
c.13348A>G (p.Thr4450Ala)
c.13324A>G (p.Thr4442Ala)
c.13294A>G (p.Thr4432Ala)
c.13471A>G (p.Thr4491Ala)
c.13321A>G (p.Thr4441Ala)
c.10021A>G (p.Thr3341Ala)
8g.143916446T>GCA372474714PLECc.13507A>C (p.Thr4503Pro)
c.13426A>C (p.Thr4476Pro)
c.13093A>C (p.Thr4365Pro)
c.13306A>C (p.Thr4436Pro)
c.13375A>C (p.Thr4459Pro)
c.10075A>C (p.Thr3359Pro)
c.13786A>C (p.Thr4596Pro)
c.13309A>C (p.Thr4437Pro)
c.13333A>C (p.Thr4445Pro)
c.13387A>C (p.Thr4463Pro)
c.13279A>C (p.Thr4427Pro)
c.13456A>C (p.Thr4486Pro)
c.13444A>C (p.Thr4482Pro)
c.13801A>C (p.Thr4601Pro)
c.13402A>C (p.Thr4468Pro)
c.13390A>C (p.Thr4464Pro)
c.13348A>C (p.Thr4450Pro)
c.13324A>C (p.Thr4442Pro)
c.13294A>C (p.Thr4432Pro)
c.13471A>C (p.Thr4491Pro)
c.13321A>C (p.Thr4441Pro)
c.10021A>C (p.Thr3341Pro)
8g.143916447G>ACA463526518PLECc.13506C>T (p.Gly4502=)
c.13425C>T (p.Gly4475=)
c.13092C>T (p.Gly4364=)
c.13305C>T (p.Gly4435=)
c.13374C>T (p.Gly4458=)
c.10074C>T (p.Gly3358=)
c.13785C>T (p.Gly4595=)
c.13308C>T (p.Gly4436=)
c.13332C>T (p.Gly4444=)
c.13386C>T (p.Gly4462=)
c.13278C>T (p.Gly4426=)
c.13455C>T (p.Gly4485=)
c.13443C>T (p.Gly4481=)
c.13800C>T (p.Gly4600=)
c.13401C>T (p.Gly4467=)
c.13389C>T (p.Gly4463=)
c.13347C>T (p.Gly4449=)
c.13323C>T (p.Gly4441=)
c.13293C>T (p.Gly4431=)
c.13470C>T (p.Gly4490=)
c.13320C>T (p.Gly4440=)
c.10020C>T (p.Gly3340=)
 gnomAD v4
8g.143916447G>CCA463526519PLECc.13506C>G (p.Gly4502=)
c.13425C>G (p.Gly4475=)
c.13092C>G (p.Gly4364=)
c.13305C>G (p.Gly4435=)
c.13374C>G (p.Gly4458=)
c.10074C>G (p.Gly3358=)
c.13785C>G (p.Gly4595=)
c.13308C>G (p.Gly4436=)
c.13332C>G (p.Gly4444=)
c.13386C>G (p.Gly4462=)
c.13278C>G (p.Gly4426=)
c.13455C>G (p.Gly4485=)
c.13443C>G (p.Gly4481=)
c.13800C>G (p.Gly4600=)
c.13401C>G (p.Gly4467=)
c.13389C>G (p.Gly4463=)
c.13347C>G (p.Gly4449=)
c.13323C>G (p.Gly4441=)
c.13293C>G (p.Gly4431=)
c.13470C>G (p.Gly4490=)
c.13320C>G (p.Gly4440=)
c.10020C>G (p.Gly3340=)
 dbSNP
8g.143916447G=CA1826037202PLECc.13506C= (p.Gly4502=)
c.13425C= (p.Gly4475=)
c.13092C= (p.Gly4364=)
c.13305C= (p.Gly4435=)
c.13374C= (p.Gly4458=)
c.10074C= (p.Gly3358=)
c.13785C= (p.Gly4595=)
c.13308C= (p.Gly4436=)
c.13332C= (p.Gly4444=)
c.13386C= (p.Gly4462=)
c.13278C= (p.Gly4426=)
c.13455C= (p.Gly4485=)
c.13443C= (p.Gly4481=)
c.13800C= (p.Gly4600=)
c.13401C= (p.Gly4467=)
c.13389C= (p.Gly4463=)
c.13347C= (p.Gly4449=)
c.13323C= (p.Gly4441=)
c.13293C= (p.Gly4431=)
c.13470C= (p.Gly4490=)
c.13320C= (p.Gly4440=)
c.10020C= (p.Gly3340=)
8g.143916447G>TCA463526520PLECc.13506C>A (p.Gly4502=)
c.13425C>A (p.Gly4475=)
c.13092C>A (p.Gly4364=)
c.13305C>A (p.Gly4435=)
c.13374C>A (p.Gly4458=)
c.10074C>A (p.Gly3358=)
c.13785C>A (p.Gly4595=)
c.13308C>A (p.Gly4436=)
c.13332C>A (p.Gly4444=)
c.13386C>A (p.Gly4462=)
c.13278C>A (p.Gly4426=)
c.13455C>A (p.Gly4485=)
c.13443C>A (p.Gly4481=)
c.13800C>A (p.Gly4600=)
c.13401C>A (p.Gly4467=)
c.13389C>A (p.Gly4463=)
c.13347C>A (p.Gly4449=)
c.13323C>A (p.Gly4441=)
c.13293C>A (p.Gly4431=)
c.13470C>A (p.Gly4490=)
c.13320C>A (p.Gly4440=)
c.10020C>A (p.Gly3340=)
8g.143916447_143916448insATGTTATCA2605510061PLECc.13505_13506insATAACAT (p.Thr4503Ter)
c.13424_13425insATAACAT (p.Thr4476Ter)
c.13091_13092insATAACAT (p.Thr4365Ter)
c.13304_13305insATAACAT (p.Thr4436Ter)
c.13373_13374insATAACAT (p.Thr4459Ter)
c.10073_10074insATAACAT (p.Thr3359Ter)
c.13784_13785insATAACAT (p.Thr4596Ter)
c.13307_13308insATAACAT (p.Thr4437Ter)
c.13331_13332insATAACAT (p.Thr4445Ter)
c.13385_13386insATAACAT (p.Thr4463Ter)
c.13277_13278insATAACAT (p.Thr4427Ter)
c.13454_13455insATAACAT (p.Thr4486Ter)
c.13442_13443insATAACAT (p.Thr4482Ter)
c.13799_13800insATAACAT (p.Thr4601Ter)
c.13400_13401insATAACAT (p.Thr4468Ter)
c.13388_13389insATAACAT (p.Thr4464Ter)
c.13346_13347insATAACAT (p.Thr4450Ter)
c.13322_13323insATAACAT (p.Thr4442Ter)
c.13292_13293insATAACAT (p.Thr4432Ter)
c.13469_13470insATAACAT (p.Thr4491Ter)
c.13319_13320insATAACAT (p.Thr4441Ter)
c.10019_10020insATAACAT (p.Thr3341Ter)
 gnomAD v3 gnomAD v4
8g.143916448C>ACA4923826PLECc.13505G>T (p.Gly4502Val)
c.13424G>T (p.Gly4475Val)
c.13091G>T (p.Gly4364Val)
c.13304G>T (p.Gly4435Val)
c.13373G>T (p.Gly4458Val)
c.10073G>T (p.Gly3358Val)
c.13784G>T (p.Gly4595Val)
c.13307G>T (p.Gly4436Val)
c.13331G>T (p.Gly4444Val)
c.13385G>T (p.Gly4462Val)
c.13277G>T (p.Gly4426Val)
c.13454G>T (p.Gly4485Val)
c.13442G>T (p.Gly4481Val)
c.13799G>T (p.Gly4600Val)
c.13400G>T (p.Gly4467Val)
c.13388G>T (p.Gly4463Val)
c.13346G>T (p.Gly4449Val)
c.13322G>T (p.Gly4441Val)
c.13292G>T (p.Gly4431Val)
c.13469G>T (p.Gly4490Val)
c.13319G>T (p.Gly4440Val)
c.10019G>T (p.Gly3340Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916448C=CA1826037204PLECc.13505G= (p.Gly4502=)
c.13424G= (p.Gly4475=)
c.13091G= (p.Gly4364=)
c.13304G= (p.Gly4435=)
c.13373G= (p.Gly4458=)
c.10073G= (p.Gly3358=)
c.13784G= (p.Gly4595=)
c.13307G= (p.Gly4436=)
c.13331G= (p.Gly4444=)
c.13385G= (p.Gly4462=)
c.13277G= (p.Gly4426=)
c.13454G= (p.Gly4485=)
c.13442G= (p.Gly4481=)
c.13799G= (p.Gly4600=)
c.13400G= (p.Gly4467=)
c.13388G= (p.Gly4463=)
c.13346G= (p.Gly4449=)
c.13322G= (p.Gly4441=)
c.13292G= (p.Gly4431=)
c.13469G= (p.Gly4490=)
c.13319G= (p.Gly4440=)
c.10019G= (p.Gly3340=)
8g.143916448C>GCA372474717PLECc.13505G>C (p.Gly4502Ala)
c.13424G>C (p.Gly4475Ala)
c.13091G>C (p.Gly4364Ala)
c.13304G>C (p.Gly4435Ala)
c.13373G>C (p.Gly4458Ala)
c.10073G>C (p.Gly3358Ala)
c.13784G>C (p.Gly4595Ala)
c.13307G>C (p.Gly4436Ala)
c.13331G>C (p.Gly4444Ala)
c.13385G>C (p.Gly4462Ala)
c.13277G>C (p.Gly4426Ala)
c.13454G>C (p.Gly4485Ala)
c.13442G>C (p.Gly4481Ala)
c.13799G>C (p.Gly4600Ala)
c.13400G>C (p.Gly4467Ala)
c.13388G>C (p.Gly4463Ala)
c.13346G>C (p.Gly4449Ala)
c.13322G>C (p.Gly4441Ala)
c.13292G>C (p.Gly4431Ala)
c.13469G>C (p.Gly4490Ala)
c.13319G>C (p.Gly4440Ala)
c.10019G>C (p.Gly3340Ala)
8g.143916448C>TCA372474719PLECc.13505G>A (p.Gly4502Asp)
c.13424G>A (p.Gly4475Asp)
c.13091G>A (p.Gly4364Asp)
c.13304G>A (p.Gly4435Asp)
c.13373G>A (p.Gly4458Asp)
c.10073G>A (p.Gly3358Asp)
c.13784G>A (p.Gly4595Asp)
c.13307G>A (p.Gly4436Asp)
c.13331G>A (p.Gly4444Asp)
c.13385G>A (p.Gly4462Asp)
c.13277G>A (p.Gly4426Asp)
c.13454G>A (p.Gly4485Asp)
c.13442G>A (p.Gly4481Asp)
c.13799G>A (p.Gly4600Asp)
c.13400G>A (p.Gly4467Asp)
c.13388G>A (p.Gly4463Asp)
c.13346G>A (p.Gly4449Asp)
c.13322G>A (p.Gly4441Asp)
c.13292G>A (p.Gly4431Asp)
c.13469G>A (p.Gly4490Asp)
c.13319G>A (p.Gly4440Asp)
c.10019G>A (p.Gly3340Asp)
 gnomAD v4
8g.143916448_143916451delinsCCCTCA1826037206PLECc.13502_13505delinsAGGG (p.Glu4501=)
c.13421_13424delinsAGGG (p.Glu4474=)
c.13088_13091delinsAGGG (p.Glu4363=)
c.13301_13304delinsAGGG (p.Glu4434=)
c.13370_13373delinsAGGG (p.Glu4457=)
c.10070_10073delinsAGGG (p.Glu3357=)
c.13781_13784delinsAGGG (p.Glu4594=)
c.13304_13307delinsAGGG (p.Glu4435=)
c.13328_13331delinsAGGG (p.Glu4443=)
c.13382_13385delinsAGGG (p.Glu4461=)
c.13274_13277delinsAGGG (p.Glu4425=)
c.13451_13454delinsAGGG (p.Glu4484=)
c.13439_13442delinsAGGG (p.Glu4480=)
c.13796_13799delinsAGGG (p.Glu4599=)
c.13397_13400delinsAGGG (p.Glu4466=)
c.13385_13388delinsAGGG (p.Glu4462=)
c.13343_13346delinsAGGG (p.Glu4448=)
c.13319_13322delinsAGGG (p.Glu4440=)
c.13289_13292delinsAGGG (p.Glu4430=)
c.13466_13469delinsAGGG (p.Glu4489=)
c.13316_13319delinsAGGG (p.Glu4439=)
c.10016_10019delinsAGGG (p.Glu3339=)
8g.143916448_143916459delCA2605510060PLECc.13494_13505del (p.Met4498_Gly4502delinsIle)
c.13413_13424del (p.Met4471_Gly4475delinsIle)
c.13080_13091del (p.Met4360_Gly4364delinsIle)
c.13293_13304del (p.Met4431_Gly4435delinsIle)
c.13362_13373del (p.Met4454_Gly4458delinsIle)
c.10062_10073del (p.Met3354_Gly3358delinsIle)
c.13773_13784del (p.Met4591_Gly4595delinsIle)
c.13296_13307del (p.Met4432_Gly4436delinsIle)
c.13320_13331del (p.Met4440_Gly4444delinsIle)
c.13374_13385del (p.Met4458_Gly4462delinsIle)
c.13266_13277del (p.Met4422_Gly4426delinsIle)
c.13443_13454del (p.Met4481_Gly4485delinsIle)
c.13431_13442del (p.Met4477_Gly4481delinsIle)
c.13788_13799del (p.Met4596_Gly4600delinsIle)
c.13389_13400del (p.Met4463_Gly4467delinsIle)
c.13377_13388del (p.Met4459_Gly4463delinsIle)
c.13335_13346del (p.Met4445_Gly4449delinsIle)
c.13311_13322del (p.Met4437_Gly4441delinsIle)
c.13281_13292del (p.Met4427_Gly4431delinsIle)
c.13458_13469del (p.Met4486_Gly4490delinsIle)
c.13308_13319del (p.Met4436_Gly4440delinsIle)
c.10008_10019del (p.Met3336_Gly3340delinsIle)
 gnomAD v3 gnomAD v4
8g.143916449C>ACA372474720PLECc.13504G>T (p.Gly4502Cys)
c.13423G>T (p.Gly4475Cys)
c.13090G>T (p.Gly4364Cys)
c.13303G>T (p.Gly4435Cys)
c.13372G>T (p.Gly4458Cys)
c.10072G>T (p.Gly3358Cys)
c.13783G>T (p.Gly4595Cys)
c.13306G>T (p.Gly4436Cys)
c.13330G>T (p.Gly4444Cys)
c.13384G>T (p.Gly4462Cys)
c.13276G>T (p.Gly4426Cys)
c.13453G>T (p.Gly4485Cys)
c.13441G>T (p.Gly4481Cys)
c.13798G>T (p.Gly4600Cys)
c.13399G>T (p.Gly4467Cys)
c.13387G>T (p.Gly4463Cys)
c.13345G>T (p.Gly4449Cys)
c.13321G>T (p.Gly4441Cys)
c.13291G>T (p.Gly4431Cys)
c.13468G>T (p.Gly4490Cys)
c.13318G>T (p.Gly4440Cys)
c.10018G>T (p.Gly3340Cys)
8g.143916449C>GCA372474722PLECc.13504G>C (p.Gly4502Arg)
c.13423G>C (p.Gly4475Arg)
c.13090G>C (p.Gly4364Arg)
c.13303G>C (p.Gly4435Arg)
c.13372G>C (p.Gly4458Arg)
c.10072G>C (p.Gly3358Arg)
c.13783G>C (p.Gly4595Arg)
c.13306G>C (p.Gly4436Arg)
c.13330G>C (p.Gly4444Arg)
c.13384G>C (p.Gly4462Arg)
c.13276G>C (p.Gly4426Arg)
c.13453G>C (p.Gly4485Arg)
c.13441G>C (p.Gly4481Arg)
c.13798G>C (p.Gly4600Arg)
c.13399G>C (p.Gly4467Arg)
c.13387G>C (p.Gly4463Arg)
c.13345G>C (p.Gly4449Arg)
c.13321G>C (p.Gly4441Arg)
c.13291G>C (p.Gly4431Arg)
c.13468G>C (p.Gly4490Arg)
c.13318G>C (p.Gly4440Arg)
c.10018G>C (p.Gly3340Arg)
8g.143916449C>TCA372474724PLECc.13504G>A (p.Gly4502Ser)
c.13423G>A (p.Gly4475Ser)
c.13090G>A (p.Gly4364Ser)
c.13303G>A (p.Gly4435Ser)
c.13372G>A (p.Gly4458Ser)
c.10072G>A (p.Gly3358Ser)
c.13783G>A (p.Gly4595Ser)
c.13306G>A (p.Gly4436Ser)
c.13330G>A (p.Gly4444Ser)
c.13384G>A (p.Gly4462Ser)
c.13276G>A (p.Gly4426Ser)
c.13453G>A (p.Gly4485Ser)
c.13441G>A (p.Gly4481Ser)
c.13798G>A (p.Gly4600Ser)
c.13399G>A (p.Gly4467Ser)
c.13387G>A (p.Gly4463Ser)
c.13345G>A (p.Gly4449Ser)
c.13321G>A (p.Gly4441Ser)
c.13291G>A (p.Gly4431Ser)
c.13468G>A (p.Gly4490Ser)
c.13318G>A (p.Gly4440Ser)
c.10018G>A (p.Gly3340Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.143916454_143916456delCA586158204PLECc.13502_13504del (p.Glu4501del)
c.13421_13423del (p.Glu4474del)
c.13088_13090del (p.Glu4363del)
c.13301_13303del (p.Glu4434del)
c.13370_13372del (p.Glu4457del)
c.10070_10072del (p.Glu3357del)
c.13781_13783del (p.Glu4594del)
c.13304_13306del (p.Glu4435del)
c.13328_13330del (p.Glu4443del)
c.13382_13384del (p.Glu4461del)
c.13274_13276del (p.Glu4425del)
c.13451_13453del (p.Glu4484del)
c.13439_13441del (p.Glu4480del)
c.13796_13798del (p.Glu4599del)
c.13397_13399del (p.Glu4466del)
c.13385_13387del (p.Glu4462del)
c.13343_13345del (p.Glu4448del)
c.13319_13321del (p.Glu4440del)
c.13289_13291del (p.Glu4430del)
c.13466_13468del (p.Glu4489del)
c.13316_13318del (p.Glu4439del)
c.10016_10018del (p.Glu3339del)
 dbSNP gnomAD v2 gnomAD v4
8g.143916450C>ACA372474725PLECc.13503G>T (p.Glu4501Asp)
c.13422G>T (p.Glu4474Asp)
c.13089G>T (p.Glu4363Asp)
c.13302G>T (p.Glu4434Asp)
c.13371G>T (p.Glu4457Asp)
c.10071G>T (p.Glu3357Asp)
c.13782G>T (p.Glu4594Asp)
c.13305G>T (p.Glu4435Asp)
c.13329G>T (p.Glu4443Asp)
c.13383G>T (p.Glu4461Asp)
c.13275G>T (p.Glu4425Asp)
c.13452G>T (p.Glu4484Asp)
c.13440G>T (p.Glu4480Asp)
c.13797G>T (p.Glu4599Asp)
c.13398G>T (p.Glu4466Asp)
c.13386G>T (p.Glu4462Asp)
c.13344G>T (p.Glu4448Asp)
c.13320G>T (p.Glu4440Asp)
c.13290G>T (p.Glu4430Asp)
c.13467G>T (p.Glu4489Asp)
c.13317G>T (p.Glu4439Asp)
c.10017G>T (p.Glu3339Asp)
8g.143916450C=CA1826037208PLECc.13503G= (p.Glu4501=)
c.13422G= (p.Glu4474=)
c.13089G= (p.Glu4363=)
c.13302G= (p.Glu4434=)
c.13371G= (p.Glu4457=)
c.10071G= (p.Glu3357=)
c.13782G= (p.Glu4594=)
c.13305G= (p.Glu4435=)
c.13329G= (p.Glu4443=)
c.13383G= (p.Glu4461=)
c.13275G= (p.Glu4425=)
c.13452G= (p.Glu4484=)
c.13440G= (p.Glu4480=)
c.13797G= (p.Glu4599=)
c.13398G= (p.Glu4466=)
c.13386G= (p.Glu4462=)
c.13344G= (p.Glu4448=)
c.13320G= (p.Glu4440=)
c.13290G= (p.Glu4430=)
c.13467G= (p.Glu4489=)
c.13317G= (p.Glu4439=)
c.10017G= (p.Glu3339=)
8g.143916450C>GCA372474727PLECc.13503G>C (p.Glu4501Asp)
c.13422G>C (p.Glu4474Asp)
c.13089G>C (p.Glu4363Asp)
c.13302G>C (p.Glu4434Asp)
c.13371G>C (p.Glu4457Asp)
c.10071G>C (p.Glu3357Asp)
c.13782G>C (p.Glu4594Asp)
c.13305G>C (p.Glu4435Asp)
c.13329G>C (p.Glu4443Asp)
c.13383G>C (p.Glu4461Asp)
c.13275G>C (p.Glu4425Asp)
c.13452G>C (p.Glu4484Asp)
c.13440G>C (p.Glu4480Asp)
c.13797G>C (p.Glu4599Asp)
c.13398G>C (p.Glu4466Asp)
c.13386G>C (p.Glu4462Asp)
c.13344G>C (p.Glu4448Asp)
c.13320G>C (p.Glu4440Asp)
c.13290G>C (p.Glu4430Asp)
c.13467G>C (p.Glu4489Asp)
c.13317G>C (p.Glu4439Asp)
c.10017G>C (p.Glu3339Asp)
 dbSNP gnomAD v3 gnomAD v4
8g.143916450C>TCA4923827PLECc.13503G>A (p.Glu4501=)
c.13422G>A (p.Glu4474=)
c.13089G>A (p.Glu4363=)
c.13302G>A (p.Glu4434=)
c.13371G>A (p.Glu4457=)
c.10071G>A (p.Glu3357=)
c.13782G>A (p.Glu4594=)
c.13305G>A (p.Glu4435=)
c.13329G>A (p.Glu4443=)
c.13383G>A (p.Glu4461=)
c.13275G>A (p.Glu4425=)
c.13452G>A (p.Glu4484=)
c.13440G>A (p.Glu4480=)
c.13797G>A (p.Glu4599=)
c.13398G>A (p.Glu4466=)
c.13386G>A (p.Glu4462=)
c.13344G>A (p.Glu4448=)
c.13320G>A (p.Glu4440=)
c.13290G>A (p.Glu4430=)
c.13467G>A (p.Glu4489=)
c.13317G>A (p.Glu4439=)
c.10017G>A (p.Glu3339=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916451T>ACA372474734PLECc.13502A>T (p.Glu4501Val)
c.13421A>T (p.Glu4474Val)
c.13088A>T (p.Glu4363Val)
c.13301A>T (p.Glu4434Val)
c.13370A>T (p.Glu4457Val)
c.10070A>T (p.Glu3357Val)
c.13781A>T (p.Glu4594Val)
c.13304A>T (p.Glu4435Val)
c.13328A>T (p.Glu4443Val)
c.13382A>T (p.Glu4461Val)
c.13274A>T (p.Glu4425Val)
c.13451A>T (p.Glu4484Val)
c.13439A>T (p.Glu4480Val)
c.13796A>T (p.Glu4599Val)
c.13397A>T (p.Glu4466Val)
c.13385A>T (p.Glu4462Val)
c.13343A>T (p.Glu4448Val)
c.13319A>T (p.Glu4440Val)
c.13289A>T (p.Glu4430Val)
c.13466A>T (p.Glu4489Val)
c.13316A>T (p.Glu4439Val)
c.10016A>T (p.Glu3339Val)
8g.143916451T>CCA372474732PLECc.13502A>G (p.Glu4501Gly)
c.13421A>G (p.Glu4474Gly)
c.13088A>G (p.Glu4363Gly)
c.13301A>G (p.Glu4434Gly)
c.13370A>G (p.Glu4457Gly)
c.10070A>G (p.Glu3357Gly)
c.13781A>G (p.Glu4594Gly)
c.13304A>G (p.Glu4435Gly)
c.13328A>G (p.Glu4443Gly)
c.13382A>G (p.Glu4461Gly)
c.13274A>G (p.Glu4425Gly)
c.13451A>G (p.Glu4484Gly)
c.13439A>G (p.Glu4480Gly)
c.13796A>G (p.Glu4599Gly)
c.13397A>G (p.Glu4466Gly)
c.13385A>G (p.Glu4462Gly)
c.13343A>G (p.Glu4448Gly)
c.13319A>G (p.Glu4440Gly)
c.13289A>G (p.Glu4430Gly)
c.13466A>G (p.Glu4489Gly)
c.13316A>G (p.Glu4439Gly)
c.10016A>G (p.Glu3339Gly)
8g.143916451T>GCA372474731PLECc.13502A>C (p.Glu4501Ala)
c.13421A>C (p.Glu4474Ala)
c.13088A>C (p.Glu4363Ala)
c.13301A>C (p.Glu4434Ala)
c.13370A>C (p.Glu4457Ala)
c.10070A>C (p.Glu3357Ala)
c.13781A>C (p.Glu4594Ala)
c.13304A>C (p.Glu4435Ala)
c.13328A>C (p.Glu4443Ala)
c.13382A>C (p.Glu4461Ala)
c.13274A>C (p.Glu4425Ala)
c.13451A>C (p.Glu4484Ala)
c.13439A>C (p.Glu4480Ala)
c.13796A>C (p.Glu4599Ala)
c.13397A>C (p.Glu4466Ala)
c.13385A>C (p.Glu4462Ala)
c.13343A>C (p.Glu4448Ala)
c.13319A>C (p.Glu4440Ala)
c.13289A>C (p.Glu4430Ala)
c.13466A>C (p.Glu4489Ala)
c.13316A>C (p.Glu4439Ala)
c.10016A>C (p.Glu3339Ala)
8g.143916452C>ACA372474735PLECc.13501G>T (p.Glu4501Ter)
c.13420G>T (p.Glu4474Ter)
c.13087G>T (p.Glu4363Ter)
c.13300G>T (p.Glu4434Ter)
c.13369G>T (p.Glu4457Ter)
c.10069G>T (p.Glu3357Ter)
c.13780G>T (p.Glu4594Ter)
c.13303G>T (p.Glu4435Ter)
c.13327G>T (p.Glu4443Ter)
c.13381G>T (p.Glu4461Ter)
c.13273G>T (p.Glu4425Ter)
c.13450G>T (p.Glu4484Ter)
c.13438G>T (p.Glu4480Ter)
c.13795G>T (p.Glu4599Ter)
c.13396G>T (p.Glu4466Ter)
c.13384G>T (p.Glu4462Ter)
c.13342G>T (p.Glu4448Ter)
c.13318G>T (p.Glu4440Ter)
c.13288G>T (p.Glu4430Ter)
c.13465G>T (p.Glu4489Ter)
c.13315G>T (p.Glu4439Ter)
c.10015G>T (p.Glu3339Ter)
8g.143916452C>GCA372474737PLECc.13501G>C (p.Glu4501Gln)
c.13420G>C (p.Glu4474Gln)
c.13087G>C (p.Glu4363Gln)
c.13300G>C (p.Glu4434Gln)
c.13369G>C (p.Glu4457Gln)
c.10069G>C (p.Glu3357Gln)
c.13780G>C (p.Glu4594Gln)
c.13303G>C (p.Glu4435Gln)
c.13327G>C (p.Glu4443Gln)
c.13381G>C (p.Glu4461Gln)
c.13273G>C (p.Glu4425Gln)
c.13450G>C (p.Glu4484Gln)
c.13438G>C (p.Glu4480Gln)
c.13795G>C (p.Glu4599Gln)
c.13396G>C (p.Glu4466Gln)
c.13384G>C (p.Glu4462Gln)
c.13342G>C (p.Glu4448Gln)
c.13318G>C (p.Glu4440Gln)
c.13288G>C (p.Glu4430Gln)
c.13465G>C (p.Glu4489Gln)
c.13315G>C (p.Glu4439Gln)
c.10015G>C (p.Glu3339Gln)
8g.143916452C>TCA372474736PLECc.13501G>A (p.Glu4501Lys)
c.13420G>A (p.Glu4474Lys)
c.13087G>A (p.Glu4363Lys)
c.13300G>A (p.Glu4434Lys)
c.13369G>A (p.Glu4457Lys)
c.10069G>A (p.Glu3357Lys)
c.13780G>A (p.Glu4594Lys)
c.13303G>A (p.Glu4435Lys)
c.13327G>A (p.Glu4443Lys)
c.13381G>A (p.Glu4461Lys)
c.13273G>A (p.Glu4425Lys)
c.13450G>A (p.Glu4484Lys)
c.13438G>A (p.Glu4480Lys)
c.13795G>A (p.Glu4599Lys)
c.13396G>A (p.Glu4466Lys)
c.13384G>A (p.Glu4462Lys)
c.13342G>A (p.Glu4448Lys)
c.13318G>A (p.Glu4440Lys)
c.13288G>A (p.Glu4430Lys)
c.13465G>A (p.Glu4489Lys)
c.13315G>A (p.Glu4439Lys)
c.10015G>A (p.Glu3339Lys)
 gnomAD v3 gnomAD v4
8g.143916453C>ACA372474738PLECc.13500G>T (p.Glu4500Asp)
c.13419G>T (p.Glu4473Asp)
c.13086G>T (p.Glu4362Asp)
c.13299G>T (p.Glu4433Asp)
c.13368G>T (p.Glu4456Asp)
c.10068G>T (p.Glu3356Asp)
c.13779G>T (p.Glu4593Asp)
c.13302G>T (p.Glu4434Asp)
c.13326G>T (p.Glu4442Asp)
c.13380G>T (p.Glu4460Asp)
c.13272G>T (p.Glu4424Asp)
c.13449G>T (p.Glu4483Asp)
c.13437G>T (p.Glu4479Asp)
c.13794G>T (p.Glu4598Asp)
c.13395G>T (p.Glu4465Asp)
c.13383G>T (p.Glu4461Asp)
c.13341G>T (p.Glu4447Asp)
c.13317G>T (p.Glu4439Asp)
c.13287G>T (p.Glu4429Asp)
c.13464G>T (p.Glu4488Asp)
c.13314G>T (p.Glu4438Asp)
c.10014G>T (p.Glu3338Asp)
 gnomAD v3 gnomAD v4
8g.143916453C>GCA372474739PLECc.13500G>C (p.Glu4500Asp)
c.13419G>C (p.Glu4473Asp)
c.13086G>C (p.Glu4362Asp)
c.13299G>C (p.Glu4433Asp)
c.13368G>C (p.Glu4456Asp)
c.10068G>C (p.Glu3356Asp)
c.13779G>C (p.Glu4593Asp)
c.13302G>C (p.Glu4434Asp)
c.13326G>C (p.Glu4442Asp)
c.13380G>C (p.Glu4460Asp)
c.13272G>C (p.Glu4424Asp)
c.13449G>C (p.Glu4483Asp)
c.13437G>C (p.Glu4479Asp)
c.13794G>C (p.Glu4598Asp)
c.13395G>C (p.Glu4465Asp)
c.13383G>C (p.Glu4461Asp)
c.13341G>C (p.Glu4447Asp)
c.13317G>C (p.Glu4439Asp)
c.13287G>C (p.Glu4429Asp)
c.13464G>C (p.Glu4488Asp)
c.13314G>C (p.Glu4438Asp)
c.10014G>C (p.Glu3338Asp)
8g.143916453C>TCA463526524PLECc.13500G>A (p.Glu4500=)
c.13419G>A (p.Glu4473=)
c.13086G>A (p.Glu4362=)
c.13299G>A (p.Glu4433=)
c.13368G>A (p.Glu4456=)
c.10068G>A (p.Glu3356=)
c.13779G>A (p.Glu4593=)
c.13302G>A (p.Glu4434=)
c.13326G>A (p.Glu4442=)
c.13380G>A (p.Glu4460=)
c.13272G>A (p.Glu4424=)
c.13449G>A (p.Glu4483=)
c.13437G>A (p.Glu4479=)
c.13794G>A (p.Glu4598=)
c.13395G>A (p.Glu4465=)
c.13383G>A (p.Glu4461=)
c.13341G>A (p.Glu4447=)
c.13317G>A (p.Glu4439=)
c.13287G>A (p.Glu4429=)
c.13464G>A (p.Glu4488=)
c.13314G>A (p.Glu4438=)
c.10014G>A (p.Glu3338=)
 gnomAD v4
8g.143916454T>ACA372474740PLECc.13499A>T (p.Glu4500Val)
c.13418A>T (p.Glu4473Val)
c.13085A>T (p.Glu4362Val)
c.13298A>T (p.Glu4433Val)
c.13367A>T (p.Glu4456Val)
c.10067A>T (p.Glu3356Val)
c.13778A>T (p.Glu4593Val)
c.13301A>T (p.Glu4434Val)
c.13325A>T (p.Glu4442Val)
c.13379A>T (p.Glu4460Val)
c.13271A>T (p.Glu4424Val)
c.13448A>T (p.Glu4483Val)
c.13436A>T (p.Glu4479Val)
c.13793A>T (p.Glu4598Val)
c.13394A>T (p.Glu4465Val)
c.13382A>T (p.Glu4461Val)
c.13340A>T (p.Glu4447Val)
c.13316A>T (p.Glu4439Val)
c.13286A>T (p.Glu4429Val)
c.13463A>T (p.Glu4488Val)
c.13313A>T (p.Glu4438Val)
c.10013A>T (p.Glu3338Val)
8g.143916454T>CCA372474741PLECc.13499A>G (p.Glu4500Gly)
c.13418A>G (p.Glu4473Gly)
c.13085A>G (p.Glu4362Gly)
c.13298A>G (p.Glu4433Gly)
c.13367A>G (p.Glu4456Gly)
c.10067A>G (p.Glu3356Gly)
c.13778A>G (p.Glu4593Gly)
c.13301A>G (p.Glu4434Gly)
c.13325A>G (p.Glu4442Gly)
c.13379A>G (p.Glu4460Gly)
c.13271A>G (p.Glu4424Gly)
c.13448A>G (p.Glu4483Gly)
c.13436A>G (p.Glu4479Gly)
c.13793A>G (p.Glu4598Gly)
c.13394A>G (p.Glu4465Gly)
c.13382A>G (p.Glu4461Gly)
c.13340A>G (p.Glu4447Gly)
c.13316A>G (p.Glu4439Gly)
c.13286A>G (p.Glu4429Gly)
c.13463A>G (p.Glu4488Gly)
c.13313A>G (p.Glu4438Gly)
c.10013A>G (p.Glu3338Gly)
 ClinVar
8g.143916454T>GCA372474742PLECc.13499A>C (p.Glu4500Ala)
c.13418A>C (p.Glu4473Ala)
c.13085A>C (p.Glu4362Ala)
c.13298A>C (p.Glu4433Ala)
c.13367A>C (p.Glu4456Ala)
c.10067A>C (p.Glu3356Ala)
c.13778A>C (p.Glu4593Ala)
c.13301A>C (p.Glu4434Ala)
c.13325A>C (p.Glu4442Ala)
c.13379A>C (p.Glu4460Ala)
c.13271A>C (p.Glu4424Ala)
c.13448A>C (p.Glu4483Ala)
c.13436A>C (p.Glu4479Ala)
c.13793A>C (p.Glu4598Ala)
c.13394A>C (p.Glu4465Ala)
c.13382A>C (p.Glu4461Ala)
c.13340A>C (p.Glu4447Ala)
c.13316A>C (p.Glu4439Ala)
c.13286A>C (p.Glu4429Ala)
c.13463A>C (p.Glu4488Ala)
c.13313A>C (p.Glu4438Ala)
c.10013A>C (p.Glu3338Ala)
8g.143916455C>ACA372474745PLECc.13498G>T (p.Glu4500Ter)
c.13417G>T (p.Glu4473Ter)
c.13084G>T (p.Glu4362Ter)
c.13297G>T (p.Glu4433Ter)
c.13366G>T (p.Glu4456Ter)
c.10066G>T (p.Glu3356Ter)
c.13777G>T (p.Glu4593Ter)
c.13300G>T (p.Glu4434Ter)
c.13324G>T (p.Glu4442Ter)
c.13378G>T (p.Glu4460Ter)
c.13270G>T (p.Glu4424Ter)
c.13447G>T (p.Glu4483Ter)
c.13435G>T (p.Glu4479Ter)
c.13792G>T (p.Glu4598Ter)
c.13393G>T (p.Glu4465Ter)
c.13381G>T (p.Glu4461Ter)
c.13339G>T (p.Glu4447Ter)
c.13315G>T (p.Glu4439Ter)
c.13285G>T (p.Glu4429Ter)
c.13462G>T (p.Glu4488Ter)
c.13312G>T (p.Glu4438Ter)
c.10012G>T (p.Glu3338Ter)
8g.143916455C>GCA372474744PLECc.13498G>C (p.Glu4500Gln)
c.13417G>C (p.Glu4473Gln)
c.13084G>C (p.Glu4362Gln)
c.13297G>C (p.Glu4433Gln)
c.13366G>C (p.Glu4456Gln)
c.10066G>C (p.Glu3356Gln)
c.13777G>C (p.Glu4593Gln)
c.13300G>C (p.Glu4434Gln)
c.13324G>C (p.Glu4442Gln)
c.13378G>C (p.Glu4460Gln)
c.13270G>C (p.Glu4424Gln)
c.13447G>C (p.Glu4483Gln)
c.13435G>C (p.Glu4479Gln)
c.13792G>C (p.Glu4598Gln)
c.13393G>C (p.Glu4465Gln)
c.13381G>C (p.Glu4461Gln)
c.13339G>C (p.Glu4447Gln)
c.13315G>C (p.Glu4439Gln)
c.13285G>C (p.Glu4429Gln)
c.13462G>C (p.Glu4488Gln)
c.13312G>C (p.Glu4438Gln)
c.10012G>C (p.Glu3338Gln)
8g.143916455C>TCA372474743PLECc.13498G>A (p.Glu4500Lys)
c.13417G>A (p.Glu4473Lys)
c.13084G>A (p.Glu4362Lys)
c.13297G>A (p.Glu4433Lys)
c.13366G>A (p.Glu4456Lys)
c.10066G>A (p.Glu3356Lys)
c.13777G>A (p.Glu4593Lys)
c.13300G>A (p.Glu4434Lys)
c.13324G>A (p.Glu4442Lys)
c.13378G>A (p.Glu4460Lys)
c.13270G>A (p.Glu4424Lys)
c.13447G>A (p.Glu4483Lys)
c.13435G>A (p.Glu4479Lys)
c.13792G>A (p.Glu4598Lys)
c.13393G>A (p.Glu4465Lys)
c.13381G>A (p.Glu4461Lys)
c.13339G>A (p.Glu4447Lys)
c.13315G>A (p.Glu4439Lys)
c.13285G>A (p.Glu4429Lys)
c.13462G>A (p.Glu4488Lys)
c.13312G>A (p.Glu4438Lys)
c.10012G>A (p.Glu3338Lys)
8g.143916456C>ACA463526528PLECc.13497G>T (p.Val4499=)
c.13416G>T (p.Val4472=)
c.13083G>T (p.Val4361=)
c.13296G>T (p.Val4432=)
c.13365G>T (p.Val4455=)
c.10065G>T (p.Val3355=)
c.13776G>T (p.Val4592=)
c.13299G>T (p.Val4433=)
c.13323G>T (p.Val4441=)
c.13377G>T (p.Val4459=)
c.13269G>T (p.Val4423=)
c.13446G>T (p.Val4482=)
c.13434G>T (p.Val4478=)
c.13791G>T (p.Val4597=)
c.13392G>T (p.Val4464=)
c.13380G>T (p.Val4460=)
c.13338G>T (p.Val4446=)
c.13314G>T (p.Val4438=)
c.13284G>T (p.Val4428=)
c.13461G>T (p.Val4487=)
c.13311G>T (p.Val4437=)
c.10011G>T (p.Val3337=)
8g.143916456C=CA1826037210PLECc.13497G= (p.Val4499=)
c.13416G= (p.Val4472=)
c.13083G= (p.Val4361=)
c.13296G= (p.Val4432=)
c.13365G= (p.Val4455=)
c.10065G= (p.Val3355=)
c.13776G= (p.Val4592=)
c.13299G= (p.Val4433=)
c.13323G= (p.Val4441=)
c.13377G= (p.Val4459=)
c.13269G= (p.Val4423=)
c.13446G= (p.Val4482=)
c.13434G= (p.Val4478=)
c.13791G= (p.Val4597=)
c.13392G= (p.Val4464=)
c.13380G= (p.Val4460=)
c.13338G= (p.Val4446=)
c.13314G= (p.Val4438=)
c.13284G= (p.Val4428=)
c.13461G= (p.Val4487=)
c.13311G= (p.Val4437=)
c.10011G= (p.Val3337=)
8g.143916456C>GCA463526529PLECc.13497G>C (p.Val4499=)
c.13416G>C (p.Val4472=)
c.13083G>C (p.Val4361=)
c.13296G>C (p.Val4432=)
c.13365G>C (p.Val4455=)
c.10065G>C (p.Val3355=)
c.13776G>C (p.Val4592=)
c.13299G>C (p.Val4433=)
c.13323G>C (p.Val4441=)
c.13377G>C (p.Val4459=)
c.13269G>C (p.Val4423=)
c.13446G>C (p.Val4482=)
c.13434G>C (p.Val4478=)
c.13791G>C (p.Val4597=)
c.13392G>C (p.Val4464=)
c.13380G>C (p.Val4460=)
c.13338G>C (p.Val4446=)
c.13314G>C (p.Val4438=)
c.13284G>C (p.Val4428=)
c.13461G>C (p.Val4487=)
c.13311G>C (p.Val4437=)
c.10011G>C (p.Val3337=)
 dbSNP gnomAD v4
8g.143916456C>TCA463526531PLECc.13497G>A (p.Val4499=)
c.13416G>A (p.Val4472=)
c.13083G>A (p.Val4361=)
c.13296G>A (p.Val4432=)
c.13365G>A (p.Val4455=)
c.10065G>A (p.Val3355=)
c.13776G>A (p.Val4592=)
c.13299G>A (p.Val4433=)
c.13323G>A (p.Val4441=)
c.13377G>A (p.Val4459=)
c.13269G>A (p.Val4423=)
c.13446G>A (p.Val4482=)
c.13434G>A (p.Val4478=)
c.13791G>A (p.Val4597=)
c.13392G>A (p.Val4464=)
c.13380G>A (p.Val4460=)
c.13338G>A (p.Val4446=)
c.13314G>A (p.Val4438=)
c.13284G>A (p.Val4428=)
c.13461G>A (p.Val4487=)
c.13311G>A (p.Val4437=)
c.10011G>A (p.Val3337=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143916457A=CA1826037212PLECc.13496T= (p.Val4499=)
c.13415T= (p.Val4472=)
c.13082T= (p.Val4361=)
c.13295T= (p.Val4432=)
c.13364T= (p.Val4455=)
c.10064T= (p.Val3355=)
c.13775T= (p.Val4592=)
c.13298T= (p.Val4433=)
c.13322T= (p.Val4441=)
c.13376T= (p.Val4459=)
c.13268T= (p.Val4423=)
c.13445T= (p.Val4482=)
c.13433T= (p.Val4478=)
c.13790T= (p.Val4597=)
c.13391T= (p.Val4464=)
c.13379T= (p.Val4460=)
c.13337T= (p.Val4446=)
c.13313T= (p.Val4438=)
c.13283T= (p.Val4428=)
c.13460T= (p.Val4487=)
c.13310T= (p.Val4437=)
c.10010T= (p.Val3337=)
8g.143916457A>CCA372474746PLECc.13496T>G (p.Val4499Gly)
c.13415T>G (p.Val4472Gly)
c.13082T>G (p.Val4361Gly)
c.13295T>G (p.Val4432Gly)
c.13364T>G (p.Val4455Gly)
c.10064T>G (p.Val3355Gly)
c.13775T>G (p.Val4592Gly)
c.13298T>G (p.Val4433Gly)
c.13322T>G (p.Val4441Gly)
c.13376T>G (p.Val4459Gly)
c.13268T>G (p.Val4423Gly)
c.13445T>G (p.Val4482Gly)
c.13433T>G (p.Val4478Gly)
c.13790T>G (p.Val4597Gly)
c.13391T>G (p.Val4464Gly)
c.13379T>G (p.Val4460Gly)
c.13337T>G (p.Val4446Gly)
c.13313T>G (p.Val4438Gly)
c.13283T>G (p.Val4428Gly)
c.13460T>G (p.Val4487Gly)
c.13310T>G (p.Val4437Gly)
c.10010T>G (p.Val3337Gly)
8g.143916457A>GCA372474747PLECc.13496T>C (p.Val4499Ala)
c.13415T>C (p.Val4472Ala)
c.13082T>C (p.Val4361Ala)
c.13295T>C (p.Val4432Ala)
c.13364T>C (p.Val4455Ala)
c.10064T>C (p.Val3355Ala)
c.13775T>C (p.Val4592Ala)
c.13298T>C (p.Val4433Ala)
c.13322T>C (p.Val4441Ala)
c.13376T>C (p.Val4459Ala)
c.13268T>C (p.Val4423Ala)
c.13445T>C (p.Val4482Ala)
c.13433T>C (p.Val4478Ala)
c.13790T>C (p.Val4597Ala)
c.13391T>C (p.Val4464Ala)
c.13379T>C (p.Val4460Ala)
c.13337T>C (p.Val4446Ala)
c.13313T>C (p.Val4438Ala)
c.13283T>C (p.Val4428Ala)
c.13460T>C (p.Val4487Ala)
c.13310T>C (p.Val4437Ala)
c.10010T>C (p.Val3337Ala)
 dbSNP gnomAD v2 gnomAD v4
8g.143916457A>TCA372474748PLECc.13496T>A (p.Val4499Glu)
c.13415T>A (p.Val4472Glu)
c.13082T>A (p.Val4361Glu)
c.13295T>A (p.Val4432Glu)
c.13364T>A (p.Val4455Glu)
c.10064T>A (p.Val3355Glu)
c.13775T>A (p.Val4592Glu)
c.13298T>A (p.Val4433Glu)
c.13322T>A (p.Val4441Glu)
c.13376T>A (p.Val4459Glu)
c.13268T>A (p.Val4423Glu)
c.13445T>A (p.Val4482Glu)
c.13433T>A (p.Val4478Glu)
c.13790T>A (p.Val4597Glu)
c.13391T>A (p.Val4464Glu)
c.13379T>A (p.Val4460Glu)
c.13337T>A (p.Val4446Glu)
c.13313T>A (p.Val4438Glu)
c.13283T>A (p.Val4428Glu)
c.13460T>A (p.Val4487Glu)
c.13310T>A (p.Val4437Glu)
c.10010T>A (p.Val3337Glu)
8g.143916458C>ACA372474749PLECc.13495G>T (p.Val4499Leu)
c.13414G>T (p.Val4472Leu)
c.13081G>T (p.Val4361Leu)
c.13294G>T (p.Val4432Leu)
c.13363G>T (p.Val4455Leu)
c.10063G>T (p.Val3355Leu)
c.13774G>T (p.Val4592Leu)
c.13297G>T (p.Val4433Leu)
c.13321G>T (p.Val4441Leu)
c.13375G>T (p.Val4459Leu)
c.13267G>T (p.Val4423Leu)
c.13444G>T (p.Val4482Leu)
c.13432G>T (p.Val4478Leu)
c.13789G>T (p.Val4597Leu)
c.13390G>T (p.Val4464Leu)
c.13378G>T (p.Val4460Leu)
c.13336G>T (p.Val4446Leu)
c.13312G>T (p.Val4438Leu)
c.13282G>T (p.Val4428Leu)
c.13459G>T (p.Val4487Leu)
c.13309G>T (p.Val4437Leu)
c.10009G>T (p.Val3337Leu)
8g.143916458C=CA1826037214PLECc.13495G= (p.Val4499=)
c.13414G= (p.Val4472=)
c.13081G= (p.Val4361=)
c.13294G= (p.Val4432=)
c.13363G= (p.Val4455=)
c.10063G= (p.Val3355=)
c.13774G= (p.Val4592=)
c.13297G= (p.Val4433=)
c.13321G= (p.Val4441=)
c.13375G= (p.Val4459=)
c.13267G= (p.Val4423=)
c.13444G= (p.Val4482=)
c.13432G= (p.Val4478=)
c.13789G= (p.Val4597=)
c.13390G= (p.Val4464=)
c.13378G= (p.Val4460=)
c.13336G= (p.Val4446=)
c.13312G= (p.Val4438=)
c.13282G= (p.Val4428=)
c.13459G= (p.Val4487=)
c.13309G= (p.Val4437=)
c.10009G= (p.Val3337=)
8g.143916458C>GCA4923828PLECc.13495G>C (p.Val4499Leu)
c.13414G>C (p.Val4472Leu)
c.13081G>C (p.Val4361Leu)
c.13294G>C (p.Val4432Leu)
c.13363G>C (p.Val4455Leu)
c.10063G>C (p.Val3355Leu)
c.13774G>C (p.Val4592Leu)
c.13297G>C (p.Val4433Leu)
c.13321G>C (p.Val4441Leu)
c.13375G>C (p.Val4459Leu)
c.13267G>C (p.Val4423Leu)
c.13444G>C (p.Val4482Leu)
c.13432G>C (p.Val4478Leu)
c.13789G>C (p.Val4597Leu)
c.13390G>C (p.Val4464Leu)
c.13378G>C (p.Val4460Leu)
c.13336G>C (p.Val4446Leu)
c.13312G>C (p.Val4438Leu)
c.13282G>C (p.Val4428Leu)
c.13459G>C (p.Val4487Leu)
c.13309G>C (p.Val4437Leu)
c.10009G>C (p.Val3337Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916458C>TCA372474750PLECc.13495G>A (p.Val4499Met)
c.13414G>A (p.Val4472Met)
c.13081G>A (p.Val4361Met)
c.13294G>A (p.Val4432Met)
c.13363G>A (p.Val4455Met)
c.10063G>A (p.Val3355Met)
c.13774G>A (p.Val4592Met)
c.13297G>A (p.Val4433Met)
c.13321G>A (p.Val4441Met)
c.13375G>A (p.Val4459Met)
c.13267G>A (p.Val4423Met)
c.13444G>A (p.Val4482Met)
c.13432G>A (p.Val4478Met)
c.13789G>A (p.Val4597Met)
c.13390G>A (p.Val4464Met)
c.13378G>A (p.Val4460Met)
c.13336G>A (p.Val4446Met)
c.13312G>A (p.Val4438Met)
c.13282G>A (p.Val4428Met)
c.13459G>A (p.Val4487Met)
c.13309G>A (p.Val4437Met)
c.10009G>A (p.Val3337Met)
8g.143916459C>ACA372474753PLECc.13494G>T (p.Met4498Ile)
c.13413G>T (p.Met4471Ile)
c.13080G>T (p.Met4360Ile)
c.13293G>T (p.Met4431Ile)
c.13362G>T (p.Met4454Ile)
c.10062G>T (p.Met3354Ile)
c.13773G>T (p.Met4591Ile)
c.13296G>T (p.Met4432Ile)
c.13320G>T (p.Met4440Ile)
c.13374G>T (p.Met4458Ile)
c.13266G>T (p.Met4422Ile)
c.13443G>T (p.Met4481Ile)
c.13431G>T (p.Met4477Ile)
c.13788G>T (p.Met4596Ile)
c.13389G>T (p.Met4463Ile)
c.13377G>T (p.Met4459Ile)
c.13335G>T (p.Met4445Ile)
c.13311G>T (p.Met4437Ile)
c.13281G>T (p.Met4427Ile)
c.13458G>T (p.Met4486Ile)
c.13308G>T (p.Met4436Ile)
c.10008G>T (p.Met3336Ile)
8g.143916459C=CA1826037215PLECc.13494G= (p.Met4498=)
c.13413G= (p.Met4471=)
c.13080G= (p.Met4360=)
c.13293G= (p.Met4431=)
c.13362G= (p.Met4454=)
c.10062G= (p.Met3354=)
c.13773G= (p.Met4591=)
c.13296G= (p.Met4432=)
c.13320G= (p.Met4440=)
c.13374G= (p.Met4458=)
c.13266G= (p.Met4422=)
c.13443G= (p.Met4481=)
c.13431G= (p.Met4477=)
c.13788G= (p.Met4596=)
c.13389G= (p.Met4463=)
c.13377G= (p.Met4459=)
c.13335G= (p.Met4445=)
c.13311G= (p.Met4437=)
c.13281G= (p.Met4427=)
c.13458G= (p.Met4486=)
c.13308G= (p.Met4436=)
c.10008G= (p.Met3336=)
8g.143916459C>GCA372474751PLECc.13494G>C (p.Met4498Ile)
c.13413G>C (p.Met4471Ile)
c.13080G>C (p.Met4360Ile)
c.13293G>C (p.Met4431Ile)
c.13362G>C (p.Met4454Ile)
c.10062G>C (p.Met3354Ile)
c.13773G>C (p.Met4591Ile)
c.13296G>C (p.Met4432Ile)
c.13320G>C (p.Met4440Ile)
c.13374G>C (p.Met4458Ile)
c.13266G>C (p.Met4422Ile)
c.13443G>C (p.Met4481Ile)
c.13431G>C (p.Met4477Ile)
c.13788G>C (p.Met4596Ile)
c.13389G>C (p.Met4463Ile)
c.13377G>C (p.Met4459Ile)
c.13335G>C (p.Met4445Ile)
c.13311G>C (p.Met4437Ile)
c.13281G>C (p.Met4427Ile)
c.13458G>C (p.Met4486Ile)
c.13308G>C (p.Met4436Ile)
c.10008G>C (p.Met3336Ile)
 dbSNP gnomAD v4
8g.143916459C>TCA372474752PLECc.13494G>A (p.Met4498Ile)
c.13413G>A (p.Met4471Ile)
c.13080G>A (p.Met4360Ile)
c.13293G>A (p.Met4431Ile)
c.13362G>A (p.Met4454Ile)
c.10062G>A (p.Met3354Ile)
c.13773G>A (p.Met4591Ile)
c.13296G>A (p.Met4432Ile)
c.13320G>A (p.Met4440Ile)
c.13374G>A (p.Met4458Ile)
c.13266G>A (p.Met4422Ile)
c.13443G>A (p.Met4481Ile)
c.13431G>A (p.Met4477Ile)
c.13788G>A (p.Met4596Ile)
c.13389G>A (p.Met4463Ile)
c.13377G>A (p.Met4459Ile)
c.13335G>A (p.Met4445Ile)
c.13311G>A (p.Met4437Ile)
c.13281G>A (p.Met4427Ile)
c.13458G>A (p.Met4486Ile)
c.13308G>A (p.Met4436Ile)
c.10008G>A (p.Met3336Ile)
8g.143916460A>CCA372474754PLECc.13493T>G (p.Met4498Arg)
c.13412T>G (p.Met4471Arg)
c.13079T>G (p.Met4360Arg)
c.13292T>G (p.Met4431Arg)
c.13361T>G (p.Met4454Arg)
c.10061T>G (p.Met3354Arg)
c.13772T>G (p.Met4591Arg)
c.13295T>G (p.Met4432Arg)
c.13319T>G (p.Met4440Arg)
c.13373T>G (p.Met4458Arg)
c.13265T>G (p.Met4422Arg)
c.13442T>G (p.Met4481Arg)
c.13430T>G (p.Met4477Arg)
c.13787T>G (p.Met4596Arg)
c.13388T>G (p.Met4463Arg)
c.13376T>G (p.Met4459Arg)
c.13334T>G (p.Met4445Arg)
c.13310T>G (p.Met4437Arg)
c.13280T>G (p.Met4427Arg)
c.13457T>G (p.Met4486Arg)
c.13307T>G (p.Met4436Arg)
c.10007T>G (p.Met3336Arg)
8g.143916460A>GCA372474755PLECc.13493T>C (p.Met4498Thr)
c.13412T>C (p.Met4471Thr)
c.13079T>C (p.Met4360Thr)
c.13292T>C (p.Met4431Thr)
c.13361T>C (p.Met4454Thr)
c.10061T>C (p.Met3354Thr)
c.13772T>C (p.Met4591Thr)
c.13295T>C (p.Met4432Thr)
c.13319T>C (p.Met4440Thr)
c.13373T>C (p.Met4458Thr)
c.13265T>C (p.Met4422Thr)
c.13442T>C (p.Met4481Thr)
c.13430T>C (p.Met4477Thr)
c.13787T>C (p.Met4596Thr)
c.13388T>C (p.Met4463Thr)
c.13376T>C (p.Met4459Thr)
c.13334T>C (p.Met4445Thr)
c.13310T>C (p.Met4437Thr)
c.13280T>C (p.Met4427Thr)
c.13457T>C (p.Met4486Thr)
c.13307T>C (p.Met4436Thr)
c.10007T>C (p.Met3336Thr)
8g.143916460A>TCA372474756PLECc.13493T>A (p.Met4498Lys)
c.13412T>A (p.Met4471Lys)
c.13079T>A (p.Met4360Lys)
c.13292T>A (p.Met4431Lys)
c.13361T>A (p.Met4454Lys)
c.10061T>A (p.Met3354Lys)
c.13772T>A (p.Met4591Lys)
c.13295T>A (p.Met4432Lys)
c.13319T>A (p.Met4440Lys)
c.13373T>A (p.Met4458Lys)
c.13265T>A (p.Met4422Lys)
c.13442T>A (p.Met4481Lys)
c.13430T>A (p.Met4477Lys)
c.13787T>A (p.Met4596Lys)
c.13388T>A (p.Met4463Lys)
c.13376T>A (p.Met4459Lys)
c.13334T>A (p.Met4445Lys)
c.13310T>A (p.Met4437Lys)
c.13280T>A (p.Met4427Lys)
c.13457T>A (p.Met4486Lys)
c.13307T>A (p.Met4436Lys)
c.10007T>A (p.Met3336Lys)
8g.143916460_143916461insGGTTCCGGCA1120226750PLECc.13492_13493insCCGGAACC (p.Met4498ThrfsTer?)
c.13411_13412insCCGGAACC (p.Met4471ThrfsTer?)
c.13078_13079insCCGGAACC (p.Met4360ThrfsTer?)
c.13291_13292insCCGGAACC (p.Met4431ThrfsTer?)
c.13360_13361insCCGGAACC (p.Met4454ThrfsTer?)
c.10060_10061insCCGGAACC (p.Met3354ThrfsTer?)
c.13771_13772insCCGGAACC (p.Met4591ThrfsTer?)
c.13294_13295insCCGGAACC (p.Met4432ThrfsTer?)
c.13318_13319insCCGGAACC (p.Met4440ThrfsTer?)
c.13372_13373insCCGGAACC (p.Met4458ThrfsTer?)
c.13264_13265insCCGGAACC (p.Met4422ThrfsTer?)
c.13441_13442insCCGGAACC (p.Met4481ThrfsTer?)
c.13429_13430insCCGGAACC (p.Met4477ThrfsTer?)
c.13786_13787insCCGGAACC (p.Met4596ThrfsTer?)
c.13387_13388insCCGGAACC (p.Met4463ThrfsTer?)
c.13375_13376insCCGGAACC (p.Met4459ThrfsTer?)
c.13333_13334insCCGGAACC (p.Met4445ThrfsTer?)
c.13309_13310insCCGGAACC (p.Met4437ThrfsTer?)
c.13279_13280insCCGGAACC (p.Met4427ThrfsTer?)
c.13456_13457insCCGGAACC (p.Met4486ThrfsTer?)
c.13306_13307insCCGGAACC (p.Met4436ThrfsTer?)
c.10006_10007insCCGGAACC (p.Met3336ThrfsTer?)
 gnomAD v3 gnomAD v4
8g.143916461T>ACA372474757PLECc.13492A>T (p.Met4498Leu)
c.13411A>T (p.Met4471Leu)
c.13078A>T (p.Met4360Leu)
c.13291A>T (p.Met4431Leu)
c.13360A>T (p.Met4454Leu)
c.10060A>T (p.Met3354Leu)
c.13771A>T (p.Met4591Leu)
c.13294A>T (p.Met4432Leu)
c.13318A>T (p.Met4440Leu)
c.13372A>T (p.Met4458Leu)
c.13264A>T (p.Met4422Leu)
c.13441A>T (p.Met4481Leu)
c.13429A>T (p.Met4477Leu)
c.13786A>T (p.Met4596Leu)
c.13387A>T (p.Met4463Leu)
c.13375A>T (p.Met4459Leu)
c.13333A>T (p.Met4445Leu)
c.13309A>T (p.Met4437Leu)
c.13279A>T (p.Met4427Leu)
c.13456A>T (p.Met4486Leu)
c.13306A>T (p.Met4436Leu)
c.10006A>T (p.Met3336Leu)
8g.143916461T>CCA372474758PLECc.13492A>G (p.Met4498Val)
c.13411A>G (p.Met4471Val)
c.13078A>G (p.Met4360Val)
c.13291A>G (p.Met4431Val)
c.13360A>G (p.Met4454Val)
c.10060A>G (p.Met3354Val)
c.13771A>G (p.Met4591Val)
c.13294A>G (p.Met4432Val)
c.13318A>G (p.Met4440Val)
c.13372A>G (p.Met4458Val)
c.13264A>G (p.Met4422Val)
c.13441A>G (p.Met4481Val)
c.13429A>G (p.Met4477Val)
c.13786A>G (p.Met4596Val)
c.13387A>G (p.Met4463Val)
c.13375A>G (p.Met4459Val)
c.13333A>G (p.Met4445Val)
c.13309A>G (p.Met4437Val)
c.13279A>G (p.Met4427Val)
c.13456A>G (p.Met4486Val)
c.13306A>G (p.Met4436Val)
c.10006A>G (p.Met3336Val)
 gnomAD v3 gnomAD v4
8g.143916461T>GCA372474759PLECc.13492A>C (p.Met4498Leu)
c.13411A>C (p.Met4471Leu)
c.13078A>C (p.Met4360Leu)
c.13291A>C (p.Met4431Leu)
c.13360A>C (p.Met4454Leu)
c.10060A>C (p.Met3354Leu)
c.13771A>C (p.Met4591Leu)
c.13294A>C (p.Met4432Leu)
c.13318A>C (p.Met4440Leu)
c.13372A>C (p.Met4458Leu)
c.13264A>C (p.Met4422Leu)
c.13441A>C (p.Met4481Leu)
c.13429A>C (p.Met4477Leu)
c.13786A>C (p.Met4596Leu)
c.13387A>C (p.Met4463Leu)
c.13375A>C (p.Met4459Leu)
c.13333A>C (p.Met4445Leu)
c.13309A>C (p.Met4437Leu)
c.13279A>C (p.Met4427Leu)
c.13456A>C (p.Met4486Leu)
c.13306A>C (p.Met4436Leu)
c.10006A>C (p.Met3336Leu)
 gnomAD v3 gnomAD v4
8g.143916462G>ACA4923829PLECc.13491C>T (p.Ser4497=)
c.13410C>T (p.Ser4470=)
c.13077C>T (p.Ser4359=)
c.13290C>T (p.Ser4430=)
c.13359C>T (p.Ser4453=)
c.10059C>T (p.Ser3353=)
c.13770C>T (p.Ser4590=)
c.13293C>T (p.Ser4431=)
c.13317C>T (p.Ser4439=)
c.13371C>T (p.Ser4457=)
c.13263C>T (p.Ser4421=)
c.13440C>T (p.Ser4480=)
c.13428C>T (p.Ser4476=)
c.13785C>T (p.Ser4595=)
c.13386C>T (p.Ser4462=)
c.13374C>T (p.Ser4458=)
c.13332C>T (p.Ser4444=)
c.13308C>T (p.Ser4436=)
c.13278C>T (p.Ser4426=)
c.13455C>T (p.Ser4485=)
c.13305C>T (p.Ser4435=)
c.10005C>T (p.Ser3335=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916462G>CCA372474760PLECc.13491C>G (p.Ser4497Arg)
c.13410C>G (p.Ser4470Arg)
c.13077C>G (p.Ser4359Arg)
c.13290C>G (p.Ser4430Arg)
c.13359C>G (p.Ser4453Arg)
c.10059C>G (p.Ser3353Arg)
c.13770C>G (p.Ser4590Arg)
c.13293C>G (p.Ser4431Arg)
c.13317C>G (p.Ser4439Arg)
c.13371C>G (p.Ser4457Arg)
c.13263C>G (p.Ser4421Arg)
c.13440C>G (p.Ser4480Arg)
c.13428C>G (p.Ser4476Arg)
c.13785C>G (p.Ser4595Arg)
c.13386C>G (p.Ser4462Arg)
c.13374C>G (p.Ser4458Arg)
c.13332C>G (p.Ser4444Arg)
c.13308C>G (p.Ser4436Arg)
c.13278C>G (p.Ser4426Arg)
c.13455C>G (p.Ser4485Arg)
c.13305C>G (p.Ser4435Arg)
c.10005C>G (p.Ser3335Arg)
8g.143916462G=CA1826037217PLECc.13491C= (p.Ser4497=)
c.13410C= (p.Ser4470=)
c.13077C= (p.Ser4359=)
c.13290C= (p.Ser4430=)
c.13359C= (p.Ser4453=)
c.10059C= (p.Ser3353=)
c.13770C= (p.Ser4590=)
c.13293C= (p.Ser4431=)
c.13317C= (p.Ser4439=)
c.13371C= (p.Ser4457=)
c.13263C= (p.Ser4421=)
c.13440C= (p.Ser4480=)
c.13428C= (p.Ser4476=)
c.13785C= (p.Ser4595=)
c.13386C= (p.Ser4462=)
c.13374C= (p.Ser4458=)
c.13332C= (p.Ser4444=)
c.13308C= (p.Ser4436=)
c.13278C= (p.Ser4426=)
c.13455C= (p.Ser4485=)
c.13305C= (p.Ser4435=)
c.10005C= (p.Ser3335=)
8g.143916462G>TCA372474761PLECc.13491C>A (p.Ser4497Arg)
c.13410C>A (p.Ser4470Arg)
c.13077C>A (p.Ser4359Arg)
c.13290C>A (p.Ser4430Arg)
c.13359C>A (p.Ser4453Arg)
c.10059C>A (p.Ser3353Arg)
c.13770C>A (p.Ser4590Arg)
c.13293C>A (p.Ser4431Arg)
c.13317C>A (p.Ser4439Arg)
c.13371C>A (p.Ser4457Arg)
c.13263C>A (p.Ser4421Arg)
c.13440C>A (p.Ser4480Arg)
c.13428C>A (p.Ser4476Arg)
c.13785C>A (p.Ser4595Arg)
c.13386C>A (p.Ser4462Arg)
c.13374C>A (p.Ser4458Arg)
c.13332C>A (p.Ser4444Arg)
c.13308C>A (p.Ser4436Arg)
c.13278C>A (p.Ser4426Arg)
c.13455C>A (p.Ser4485Arg)
c.13305C>A (p.Ser4435Arg)
c.10005C>A (p.Ser3335Arg)
8g.143916463C>ACA372474762PLECc.13490G>T (p.Ser4497Ile)
c.13409G>T (p.Ser4470Ile)
c.13076G>T (p.Ser4359Ile)
c.13289G>T (p.Ser4430Ile)
c.13358G>T (p.Ser4453Ile)
c.10058G>T (p.Ser3353Ile)
c.13769G>T (p.Ser4590Ile)
c.13292G>T (p.Ser4431Ile)
c.13316G>T (p.Ser4439Ile)
c.13370G>T (p.Ser4457Ile)
c.13262G>T (p.Ser4421Ile)
c.13439G>T (p.Ser4480Ile)
c.13427G>T (p.Ser4476Ile)
c.13784G>T (p.Ser4595Ile)
c.13385G>T (p.Ser4462Ile)
c.13373G>T (p.Ser4458Ile)
c.13331G>T (p.Ser4444Ile)
c.13307G>T (p.Ser4436Ile)
c.13277G>T (p.Ser4426Ile)
c.13454G>T (p.Ser4485Ile)
c.13304G>T (p.Ser4435Ile)
c.10004G>T (p.Ser3335Ile)
8g.143916463C>GCA372474763PLECc.13490G>C (p.Ser4497Thr)
c.13409G>C (p.Ser4470Thr)
c.13076G>C (p.Ser4359Thr)
c.13289G>C (p.Ser4430Thr)
c.13358G>C (p.Ser4453Thr)
c.10058G>C (p.Ser3353Thr)
c.13769G>C (p.Ser4590Thr)
c.13292G>C (p.Ser4431Thr)
c.13316G>C (p.Ser4439Thr)
c.13370G>C (p.Ser4457Thr)
c.13262G>C (p.Ser4421Thr)
c.13439G>C (p.Ser4480Thr)
c.13427G>C (p.Ser4476Thr)
c.13784G>C (p.Ser4595Thr)
c.13385G>C (p.Ser4462Thr)
c.13373G>C (p.Ser4458Thr)
c.13331G>C (p.Ser4444Thr)
c.13307G>C (p.Ser4436Thr)
c.13277G>C (p.Ser4426Thr)
c.13454G>C (p.Ser4485Thr)
c.13304G>C (p.Ser4435Thr)
c.10004G>C (p.Ser3335Thr)
8g.143916463C>TCA372474764PLECc.13490G>A (p.Ser4497Asn)
c.13409G>A (p.Ser4470Asn)
c.13076G>A (p.Ser4359Asn)
c.13289G>A (p.Ser4430Asn)
c.13358G>A (p.Ser4453Asn)
c.10058G>A (p.Ser3353Asn)
c.13769G>A (p.Ser4590Asn)
c.13292G>A (p.Ser4431Asn)
c.13316G>A (p.Ser4439Asn)
c.13370G>A (p.Ser4457Asn)
c.13262G>A (p.Ser4421Asn)
c.13439G>A (p.Ser4480Asn)
c.13427G>A (p.Ser4476Asn)
c.13784G>A (p.Ser4595Asn)
c.13385G>A (p.Ser4462Asn)
c.13373G>A (p.Ser4458Asn)
c.13331G>A (p.Ser4444Asn)
c.13307G>A (p.Ser4436Asn)
c.13277G>A (p.Ser4426Asn)
c.13454G>A (p.Ser4485Asn)
c.13304G>A (p.Ser4435Asn)
c.10004G>A (p.Ser3335Asn)
 gnomAD v4
8g.143916463_143916464insACA1120226752PLECc.13489_13490insT (p.Ser4497MetfsTer?)
c.13408_13409insT (p.Ser4470MetfsTer?)
c.13075_13076insT (p.Ser4359MetfsTer?)
c.13288_13289insT (p.Ser4430MetfsTer?)
c.13357_13358insT (p.Ser4453MetfsTer?)
c.10057_10058insT (p.Ser3353MetfsTer?)
c.13768_13769insT (p.Ser4590MetfsTer?)
c.13291_13292insT (p.Ser4431MetfsTer?)
c.13315_13316insT (p.Ser4439MetfsTer?)
c.13369_13370insT (p.Ser4457MetfsTer?)
c.13261_13262insT (p.Ser4421MetfsTer?)
c.13438_13439insT (p.Ser4480MetfsTer?)
c.13426_13427insT (p.Ser4476MetfsTer?)
c.13783_13784insT (p.Ser4595MetfsTer?)
c.13384_13385insT (p.Ser4462MetfsTer?)
c.13372_13373insT (p.Ser4458MetfsTer?)
c.13330_13331insT (p.Ser4444MetfsTer?)
c.13306_13307insT (p.Ser4436MetfsTer?)
c.13276_13277insT (p.Ser4426MetfsTer?)
c.13453_13454insT (p.Ser4485MetfsTer?)
c.13303_13304insT (p.Ser4435MetfsTer?)
c.10003_10004insT (p.Ser3335MetfsTer?)
 gnomAD v3 gnomAD v4
8g.143916464T>ACA372474766PLECc.13489A>T (p.Ser4497Cys)
c.13408A>T (p.Ser4470Cys)
c.13075A>T (p.Ser4359Cys)
c.13288A>T (p.Ser4430Cys)
c.13357A>T (p.Ser4453Cys)
c.10057A>T (p.Ser3353Cys)
c.13768A>T (p.Ser4590Cys)
c.13291A>T (p.Ser4431Cys)
c.13315A>T (p.Ser4439Cys)
c.13369A>T (p.Ser4457Cys)
c.13261A>T (p.Ser4421Cys)
c.13438A>T (p.Ser4480Cys)
c.13426A>T (p.Ser4476Cys)
c.13783A>T (p.Ser4595Cys)
c.13384A>T (p.Ser4462Cys)
c.13372A>T (p.Ser4458Cys)
c.13330A>T (p.Ser4444Cys)
c.13306A>T (p.Ser4436Cys)
c.13276A>T (p.Ser4426Cys)
c.13453A>T (p.Ser4485Cys)
c.13303A>T (p.Ser4435Cys)
c.10003A>T (p.Ser3335Cys)
8g.143916464T>CCA187606136PLECc.13489A>G (p.Ser4497Gly)
c.13408A>G (p.Ser4470Gly)
c.13075A>G (p.Ser4359Gly)
c.13288A>G (p.Ser4430Gly)
c.13357A>G (p.Ser4453Gly)
c.10057A>G (p.Ser3353Gly)
c.13768A>G (p.Ser4590Gly)
c.13291A>G (p.Ser4431Gly)
c.13315A>G (p.Ser4439Gly)
c.13369A>G (p.Ser4457Gly)
c.13261A>G (p.Ser4421Gly)
c.13438A>G (p.Ser4480Gly)
c.13426A>G (p.Ser4476Gly)
c.13783A>G (p.Ser4595Gly)
c.13384A>G (p.Ser4462Gly)
c.13372A>G (p.Ser4458Gly)
c.13330A>G (p.Ser4444Gly)
c.13306A>G (p.Ser4436Gly)
c.13276A>G (p.Ser4426Gly)
c.13453A>G (p.Ser4485Gly)
c.13303A>G (p.Ser4435Gly)
c.10003A>G (p.Ser3335Gly)
 dbSNP gnomAD v3 gnomAD v4
8g.143916464T>GCA372474765PLECc.13489A>C (p.Ser4497Arg)
c.13408A>C (p.Ser4470Arg)
c.13075A>C (p.Ser4359Arg)
c.13288A>C (p.Ser4430Arg)
c.13357A>C (p.Ser4453Arg)
c.10057A>C (p.Ser3353Arg)
c.13768A>C (p.Ser4590Arg)
c.13291A>C (p.Ser4431Arg)
c.13315A>C (p.Ser4439Arg)
c.13369A>C (p.Ser4457Arg)
c.13261A>C (p.Ser4421Arg)
c.13438A>C (p.Ser4480Arg)
c.13426A>C (p.Ser4476Arg)
c.13783A>C (p.Ser4595Arg)
c.13384A>C (p.Ser4462Arg)
c.13372A>C (p.Ser4458Arg)
c.13330A>C (p.Ser4444Arg)
c.13306A>C (p.Ser4436Arg)
c.13276A>C (p.Ser4426Arg)
c.13453A>C (p.Ser4485Arg)
c.13303A>C (p.Ser4435Arg)
c.10003A>C (p.Ser3335Arg)
8g.143916464T=CA1826037220PLECc.13489A= (p.Ser4497=)
c.13408A= (p.Ser4470=)
c.13075A= (p.Ser4359=)
c.13288A= (p.Ser4430=)
c.13357A= (p.Ser4453=)
c.10057A= (p.Ser3353=)
c.13768A= (p.Ser4590=)
c.13291A= (p.Ser4431=)
c.13315A= (p.Ser4439=)
c.13369A= (p.Ser4457=)
c.13261A= (p.Ser4421=)
c.13438A= (p.Ser4480=)
c.13426A= (p.Ser4476=)
c.13783A= (p.Ser4595=)
c.13384A= (p.Ser4462=)
c.13372A= (p.Ser4458=)
c.13330A= (p.Ser4444=)
c.13306A= (p.Ser4436=)
c.13276A= (p.Ser4426=)
c.13453A= (p.Ser4485=)
c.13303A= (p.Ser4435=)
c.10003A= (p.Ser3335=)
8g.143916465G>ACA4923830PLECc.13488C>T (p.Arg4496=)
c.13407C>T (p.Arg4469=)
c.13074C>T (p.Arg4358=)
c.13287C>T (p.Arg4429=)
c.13356C>T (p.Arg4452=)
c.10056C>T (p.Arg3352=)
c.13767C>T (p.Arg4589=)
c.13290C>T (p.Arg4430=)
c.13314C>T (p.Arg4438=)
c.13368C>T (p.Arg4456=)
c.13260C>T (p.Arg4420=)
c.13437C>T (p.Arg4479=)
c.13425C>T (p.Arg4475=)
c.13782C>T (p.Arg4594=)
c.13383C>T (p.Arg4461=)
c.13371C>T (p.Arg4457=)
c.13329C>T (p.Arg4443=)
c.13305C>T (p.Arg4435=)
c.13275C>T (p.Arg4425=)
c.13452C>T (p.Arg4484=)
c.13302C>T (p.Arg4434=)
c.10002C>T (p.Arg3334=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916465G>CCA463526540PLECc.13488C>G (p.Arg4496=)
c.13407C>G (p.Arg4469=)
c.13074C>G (p.Arg4358=)
c.13287C>G (p.Arg4429=)
c.13356C>G (p.Arg4452=)
c.10056C>G (p.Arg3352=)
c.13767C>G (p.Arg4589=)
c.13290C>G (p.Arg4430=)
c.13314C>G (p.Arg4438=)
c.13368C>G (p.Arg4456=)
c.13260C>G (p.Arg4420=)
c.13437C>G (p.Arg4479=)
c.13425C>G (p.Arg4475=)
c.13782C>G (p.Arg4594=)
c.13383C>G (p.Arg4461=)
c.13371C>G (p.Arg4457=)
c.13329C>G (p.Arg4443=)
c.13305C>G (p.Arg4435=)
c.13275C>G (p.Arg4425=)
c.13452C>G (p.Arg4484=)
c.13302C>G (p.Arg4434=)
c.10002C>G (p.Arg3334=)
8g.143916465G=CA1826037222PLECc.13488C= (p.Arg4496=)
c.13407C= (p.Arg4469=)
c.13074C= (p.Arg4358=)
c.13287C= (p.Arg4429=)
c.13356C= (p.Arg4452=)
c.10056C= (p.Arg3352=)
c.13767C= (p.Arg4589=)
c.13290C= (p.Arg4430=)
c.13314C= (p.Arg4438=)
c.13368C= (p.Arg4456=)
c.13260C= (p.Arg4420=)
c.13437C= (p.Arg4479=)
c.13425C= (p.Arg4475=)
c.13782C= (p.Arg4594=)
c.13383C= (p.Arg4461=)
c.13371C= (p.Arg4457=)
c.13329C= (p.Arg4443=)
c.13305C= (p.Arg4435=)
c.13275C= (p.Arg4425=)
c.13452C= (p.Arg4484=)
c.13302C= (p.Arg4434=)
c.10002C= (p.Arg3334=)
8g.143916465G>TCA463526542PLECc.13488C>A (p.Arg4496=)
c.13407C>A (p.Arg4469=)
c.13074C>A (p.Arg4358=)
c.13287C>A (p.Arg4429=)
c.13356C>A (p.Arg4452=)
c.10056C>A (p.Arg3352=)
c.13767C>A (p.Arg4589=)
c.13290C>A (p.Arg4430=)
c.13314C>A (p.Arg4438=)
c.13368C>A (p.Arg4456=)
c.13260C>A (p.Arg4420=)
c.13437C>A (p.Arg4479=)
c.13425C>A (p.Arg4475=)
c.13782C>A (p.Arg4594=)
c.13383C>A (p.Arg4461=)
c.13371C>A (p.Arg4457=)
c.13329C>A (p.Arg4443=)
c.13305C>A (p.Arg4435=)
c.13275C>A (p.Arg4425=)
c.13452C>A (p.Arg4484=)
c.13302C>A (p.Arg4434=)
c.10002C>A (p.Arg3334=)
 dbSNP gnomAD v3 gnomAD v4
8g.143916465_143916466insGCCTCA1120226755PLECc.13487_13488insAGGC (p.Ser4497GlyfsTer?)
c.13406_13407insAGGC (p.Ser4470GlyfsTer?)
c.13073_13074insAGGC (p.Ser4359GlyfsTer?)
c.13286_13287insAGGC (p.Ser4430GlyfsTer?)
c.13355_13356insAGGC (p.Ser4453GlyfsTer?)
c.10055_10056insAGGC (p.Ser3353GlyfsTer?)
c.13766_13767insAGGC (p.Ser4590GlyfsTer?)
c.13289_13290insAGGC (p.Ser4431GlyfsTer?)
c.13313_13314insAGGC (p.Ser4439GlyfsTer?)
c.13367_13368insAGGC (p.Ser4457GlyfsTer?)
c.13259_13260insAGGC (p.Ser4421GlyfsTer?)
c.13436_13437insAGGC (p.Ser4480GlyfsTer?)
c.13424_13425insAGGC (p.Ser4476GlyfsTer?)
c.13781_13782insAGGC (p.Ser4595GlyfsTer?)
c.13382_13383insAGGC (p.Ser4462GlyfsTer?)
c.13370_13371insAGGC (p.Ser4458GlyfsTer?)
c.13328_13329insAGGC (p.Ser4444GlyfsTer?)
c.13304_13305insAGGC (p.Ser4436GlyfsTer?)
c.13274_13275insAGGC (p.Ser4426GlyfsTer?)
c.13451_13452insAGGC (p.Ser4485GlyfsTer?)
c.13301_13302insAGGC (p.Ser4435GlyfsTer?)
c.10001_10002insAGGC (p.Ser3335GlyfsTer?)
 gnomAD v3 gnomAD v4
8g.143916466C>ACA372474767PLECc.13487G>T (p.Arg4496Leu)
c.13406G>T (p.Arg4469Leu)
c.13073G>T (p.Arg4358Leu)
c.13286G>T (p.Arg4429Leu)
c.13355G>T (p.Arg4452Leu)
c.10055G>T (p.Arg3352Leu)
c.13766G>T (p.Arg4589Leu)
c.13289G>T (p.Arg4430Leu)
c.13313G>T (p.Arg4438Leu)
c.13367G>T (p.Arg4456Leu)
c.13259G>T (p.Arg4420Leu)
c.13436G>T (p.Arg4479Leu)
c.13424G>T (p.Arg4475Leu)
c.13781G>T (p.Arg4594Leu)
c.13382G>T (p.Arg4461Leu)
c.13370G>T (p.Arg4457Leu)
c.13328G>T (p.Arg4443Leu)
c.13304G>T (p.Arg4435Leu)
c.13274G>T (p.Arg4425Leu)
c.13451G>T (p.Arg4484Leu)
c.13301G>T (p.Arg4434Leu)
c.10001G>T (p.Arg3334Leu)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
8g.143916466C=CA1826037228PLECc.13487G= (p.Arg4496=)
c.13406G= (p.Arg4469=)
c.13073G= (p.Arg4358=)
c.13286G= (p.Arg4429=)
c.13355G= (p.Arg4452=)
c.10055G= (p.Arg3352=)
c.13766G= (p.Arg4589=)
c.13289G= (p.Arg4430=)
c.13313G= (p.Arg4438=)
c.13367G= (p.Arg4456=)
c.13259G= (p.Arg4420=)
c.13436G= (p.Arg4479=)
c.13424G= (p.Arg4475=)
c.13781G= (p.Arg4594=)
c.13382G= (p.Arg4461=)
c.13370G= (p.Arg4457=)
c.13328G= (p.Arg4443=)
c.13304G= (p.Arg4435=)
c.13274G= (p.Arg4425=)
c.13451G= (p.Arg4484=)
c.13301G= (p.Arg4434=)
c.10001G= (p.Arg3334=)
8g.143916466C>GCA372474768PLECc.13487G>C (p.Arg4496Pro)
c.13406G>C (p.Arg4469Pro)
c.13073G>C (p.Arg4358Pro)
c.13286G>C (p.Arg4429Pro)
c.13355G>C (p.Arg4452Pro)
c.10055G>C (p.Arg3352Pro)
c.13766G>C (p.Arg4589Pro)
c.13289G>C (p.Arg4430Pro)
c.13313G>C (p.Arg4438Pro)
c.13367G>C (p.Arg4456Pro)
c.13259G>C (p.Arg4420Pro)
c.13436G>C (p.Arg4479Pro)
c.13424G>C (p.Arg4475Pro)
c.13781G>C (p.Arg4594Pro)
c.13382G>C (p.Arg4461Pro)
c.13370G>C (p.Arg4457Pro)
c.13328G>C (p.Arg4443Pro)
c.13304G>C (p.Arg4435Pro)
c.13274G>C (p.Arg4425Pro)
c.13451G>C (p.Arg4484Pro)
c.13301G>C (p.Arg4434Pro)
c.10001G>C (p.Arg3334Pro)
8g.143916466C>TCA4923831PLECc.13487G>A (p.Arg4496His)
c.13406G>A (p.Arg4469His)
c.13073G>A (p.Arg4358His)
c.13286G>A (p.Arg4429His)
c.13355G>A (p.Arg4452His)
c.10055G>A (p.Arg3352His)
c.13766G>A (p.Arg4589His)
c.13289G>A (p.Arg4430His)
c.13313G>A (p.Arg4438His)
c.13367G>A (p.Arg4456His)
c.13259G>A (p.Arg4420His)
c.13436G>A (p.Arg4479His)
c.13424G>A (p.Arg4475His)
c.13781G>A (p.Arg4594His)
c.13382G>A (p.Arg4461His)
c.13370G>A (p.Arg4457His)
c.13328G>A (p.Arg4443His)
c.13304G>A (p.Arg4435His)
c.13274G>A (p.Arg4425His)
c.13451G>A (p.Arg4484His)
c.13301G>A (p.Arg4434His)
c.10001G>A (p.Arg3334His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
8g.143916467G>ACA4923832PLECc.13486C>T (p.Arg4496Cys)
c.13405C>T (p.Arg4469Cys)
c.13072C>T (p.Arg4358Cys)
c.13285C>T (p.Arg4429Cys)
c.13354C>T (p.Arg4452Cys)
c.10054C>T (p.Arg3352Cys)
c.13765C>T (p.Arg4589Cys)
c.13288C>T (p.Arg4430Cys)
c.13312C>T (p.Arg4438Cys)
c.13366C>T (p.Arg4456Cys)
c.13258C>T (p.Arg4420Cys)
c.13435C>T (p.Arg4479Cys)
c.13423C>T (p.Arg4475Cys)
c.13780C>T (p.Arg4594Cys)
c.13381C>T (p.Arg4461Cys)
c.13369C>T (p.Arg4457Cys)
c.13327C>T (p.Arg4443Cys)
c.13303C>T (p.Arg4435Cys)
c.13273C>T (p.Arg4425Cys)
c.13450C>T (p.Arg4484Cys)
c.13300C>T (p.Arg4434Cys)
c.10000C>T (p.Arg3334Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.143916467G>CCA372474769PLECc.13486C>G (p.Arg4496Gly)
c.13405C>G (p.Arg4469Gly)
c.13072C>G (p.Arg4358Gly)
c.13285C>G (p.Arg4429Gly)
c.13354C>G (p.Arg4452Gly)
c.10054C>G (p.Arg3352Gly)
c.13765C>G (p.Arg4589Gly)
c.13288C>G (p.Arg4430Gly)
c.13312C>G (p.Arg4438Gly)
c.13366C>G (p.Arg4456Gly)
c.13258C>G (p.Arg4420Gly)
c.13435C>G (p.Arg4479Gly)
c.13423C>G (p.Arg4475Gly)
c.13780C>G (p.Arg4594Gly)
c.13381C>G (p.Arg4461Gly)
c.13369C>G (p.Arg4457Gly)
c.13327C>G (p.Arg4443Gly)
c.13303C>G (p.Arg4435Gly)
c.13273C>G (p.Arg4425Gly)
c.13450C>G (p.Arg4484Gly)
c.13300C>G (p.Arg4434Gly)
c.10000C>G (p.Arg3334Gly)
8g.143916467G=CA1826037231PLECc.13486C= (p.Arg4496=)
c.13405C= (p.Arg4469=)
c.13072C= (p.Arg4358=)
c.13285C= (p.Arg4429=)
c.13354C= (p.Arg4452=)
c.10054C= (p.Arg3352=)
c.13765C= (p.Arg4589=)
c.13288C= (p.Arg4430=)
c.13312C= (p.Arg4438=)
c.13366C= (p.Arg4456=)
c.13258C= (p.Arg4420=)
c.13435C= (p.Arg4479=)
c.13423C= (p.Arg4475=)
c.13780C= (p.Arg4594=)
c.13381C= (p.Arg4461=)
c.13369C= (p.Arg4457=)
c.13327C= (p.Arg4443=)
c.13303C= (p.Arg4435=)
c.13273C= (p.Arg4425=)
c.13450C= (p.Arg4484=)
c.13300C= (p.Arg4434=)
c.10000C= (p.Arg3334=)
8g.143916467G>TCA372474770PLECc.13486C>A (p.Arg4496Ser)
c.13405C>A (p.Arg4469Ser)
c.13072C>A (p.Arg4358Ser)
c.13285C>A (p.Arg4429Ser)
c.13354C>A (p.Arg4452Ser)
c.10054C>A (p.Arg3352Ser)
c.13765C>A (p.Arg4589Ser)
c.13288C>A (p.Arg4430Ser)
c.13312C>A (p.Arg4438Ser)
c.13366C>A (p.Arg4456Ser)
c.13258C>A (p.Arg4420Ser)
c.13435C>A (p.Arg4479Ser)
c.13423C>A (p.Arg4475Ser)
c.13780C>A (p.Arg4594Ser)
c.13381C>A (p.Arg4461Ser)
c.13369C>A (p.Arg4457Ser)
c.13327C>A (p.Arg4443Ser)
c.13303C>A (p.Arg4435Ser)
c.13273C>A (p.Arg4425Ser)
c.13450C>A (p.Arg4484Ser)
c.13300C>A (p.Arg4434Ser)
c.10000C>A (p.Arg3334Ser)
8g.143916468G>ACA463526547PLECc.13485C>T (p.Asp4495=)
c.13404C>T (p.Asp4468=)
c.13071C>T (p.Asp4357=)
c.13284C>T (p.Asp4428=)
c.13353C>T (p.Asp4451=)
c.10053C>T (p.Asp3351=)
c.13764C>T (p.Asp4588=)
c.13287C>T (p.Asp4429=)
c.13311C>T (p.Asp4437=)
c.13365C>T (p.Asp4455=)
c.13257C>T (p.Asp4419=)
c.13434C>T (p.Asp4478=)
c.13422C>T (p.Asp4474=)
c.13779C>T (p.Asp4593=)
c.13380C>T (p.Asp4460=)
c.13368C>T (p.Asp4456=)
c.13326C>T (p.Asp4442=)
c.13302C>T (p.Asp4434=)
c.13272C>T (p.Asp4424=)
c.13449C>T (p.Asp4483=)
c.13299C>T (p.Asp4433=)
c.9999C>T (p.Asp3333=)
 gnomAD v4
8g.143916468G>CCA372474771PLECc.13485C>G (p.Asp4495Glu)
c.13404C>G (p.Asp4468Glu)
c.13071C>G (p.Asp4357Glu)
c.13284C>G (p.Asp4428Glu)
c.13353C>G (p.Asp4451Glu)
c.10053C>G (p.Asp3351Glu)
c.13764C>G (p.Asp4588Glu)
c.13287C>G (p.Asp4429Glu)
c.13311C>G (p.Asp4437Glu)
c.13365C>G (p.Asp4455Glu)
c.13257C>G (p.Asp4419Glu)
c.13434C>G (p.Asp4478Glu)
c.13422C>G (p.Asp4474Glu)
c.13779C>G (p.Asp4593Glu)
c.13380C>G (p.Asp4460Glu)
c.13368C>G (p.Asp4456Glu)
c.13326C>G (p.Asp4442Glu)
c.13302C>G (p.Asp4434Glu)
c.13272C>G (p.Asp4424Glu)
c.13449C>G (p.Asp4483Glu)
c.13299C>G (p.Asp4433Glu)
c.9999C>G (p.Asp3333Glu)
8g.143916468G>TCA372474772PLECc.13485C>A (p.Asp4495Glu)
c.13404C>A (p.Asp4468Glu)
c.13071C>A (p.Asp4357Glu)
c.13284C>A (p.Asp4428Glu)
c.13353C>A (p.Asp4451Glu)
c.10053C>A (p.Asp3351Glu)
c.13764C>A (p.Asp4588Glu)
c.13287C>A (p.Asp4429Glu)
c.13311C>A (p.Asp4437Glu)
c.13365C>A (p.Asp4455Glu)
c.13257C>A (p.Asp4419Glu)
c.13434C>A (p.Asp4478Glu)
c.13422C>A (p.Asp4474Glu)
c.13779C>A (p.Asp4593Glu)
c.13380C>A (p.Asp4460Glu)
c.13368C>A (p.Asp4456Glu)
c.13326C>A (p.Asp4442Glu)
c.13302C>A (p.Asp4434Glu)
c.13272C>A (p.Asp4424Glu)
c.13449C>A (p.Asp4483Glu)
c.13299C>A (p.Asp4433Glu)
c.9999C>A (p.Asp3333Glu)
8g.143916469T>ACA372474773PLECc.13484A>T (p.Asp4495Val)
c.13403A>T (p.Asp4468Val)
c.13070A>T (p.Asp4357Val)
c.13283A>T (p.Asp4428Val)
c.13352A>T (p.Asp4451Val)
c.10052A>T (p.Asp3351Val)
c.13763A>T (p.Asp4588Val)
c.13286A>T (p.Asp4429Val)
c.13310A>T (p.Asp4437Val)
c.13364A>T (p.Asp4455Val)
c.13256A>T (p.Asp4419Val)
c.13433A>T (p.Asp4478Val)
c.13421A>T (p.Asp4474Val)
c.13778A>T (p.Asp4593Val)
c.13379A>T (p.Asp4460Val)
c.13367A>T (p.Asp4456Val)
c.13325A>T (p.Asp4442Val)
c.13301A>T (p.Asp4434Val)
c.13271A>T (p.Asp4424Val)
c.13448A>T (p.Asp4483Val)
c.13298A>T (p.Asp4433Val)
c.9998A>T (p.Asp3333Val)
8g.143916469T>CCA372474774PLECc.13484A>G (p.Asp4495Gly)
c.13403A>G (p.Asp4468Gly)
c.13070A>G (p.Asp4357Gly)
c.13283A>G (p.Asp4428Gly)
c.13352A>G (p.Asp4451Gly)
c.10052A>G (p.Asp3351Gly)
c.13763A>G (p.Asp4588Gly)
c.13286A>G (p.Asp4429Gly)
c.13310A>G (p.Asp4437Gly)
c.13364A>G (p.Asp4455Gly)
c.13256A>G (p.Asp4419Gly)
c.13433A>G (p.Asp4478Gly)
c.13421A>G (p.Asp4474Gly)
c.13778A>G (p.Asp4593Gly)
c.13379A>G (p.Asp4460Gly)
c.13367A>G (p.Asp4456Gly)
c.13325A>G (p.Asp4442Gly)
c.13301A>G (p.Asp4434Gly)
c.13271A>G (p.Asp4424Gly)
c.13448A>G (p.Asp4483Gly)
c.13298A>G (p.Asp4433Gly)
c.9998A>G (p.Asp3333Gly)
 dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916469T>GCA372474775PLECc.13484A>C (p.Asp4495Ala)
c.13403A>C (p.Asp4468Ala)
c.13070A>C (p.Asp4357Ala)
c.13283A>C (p.Asp4428Ala)
c.13352A>C (p.Asp4451Ala)
c.10052A>C (p.Asp3351Ala)
c.13763A>C (p.Asp4588Ala)
c.13286A>C (p.Asp4429Ala)
c.13310A>C (p.Asp4437Ala)
c.13364A>C (p.Asp4455Ala)
c.13256A>C (p.Asp4419Ala)
c.13433A>C (p.Asp4478Ala)
c.13421A>C (p.Asp4474Ala)
c.13778A>C (p.Asp4593Ala)
c.13379A>C (p.Asp4460Ala)
c.13367A>C (p.Asp4456Ala)
c.13325A>C (p.Asp4442Ala)
c.13301A>C (p.Asp4434Ala)
c.13271A>C (p.Asp4424Ala)
c.13448A>C (p.Asp4483Ala)
c.13298A>C (p.Asp4433Ala)
c.9998A>C (p.Asp3333Ala)
8g.143916469T=CA1826037235PLECc.13484A= (p.Asp4495=)
c.13403A= (p.Asp4468=)
c.13070A= (p.Asp4357=)
c.13283A= (p.Asp4428=)
c.13352A= (p.Asp4451=)
c.10052A= (p.Asp3351=)
c.13763A= (p.Asp4588=)
c.13286A= (p.Asp4429=)
c.13310A= (p.Asp4437=)
c.13364A= (p.Asp4455=)
c.13256A= (p.Asp4419=)
c.13433A= (p.Asp4478=)
c.13421A= (p.Asp4474=)
c.13778A= (p.Asp4593=)
c.13379A= (p.Asp4460=)
c.13367A= (p.Asp4456=)
c.13325A= (p.Asp4442=)
c.13301A= (p.Asp4434=)
c.13271A= (p.Asp4424=)
c.13448A= (p.Asp4483=)
c.13298A= (p.Asp4433=)
c.9998A= (p.Asp3333=)
8g.143916470C>ACA372474778PLECc.13483G>T (p.Asp4495Tyr)
c.13402G>T (p.Asp4468Tyr)
c.13069G>T (p.Asp4357Tyr)
c.13282G>T (p.Asp4428Tyr)
c.13351G>T (p.Asp4451Tyr)
c.10051G>T (p.Asp3351Tyr)
c.13762G>T (p.Asp4588Tyr)
c.13285G>T (p.Asp4429Tyr)
c.13309G>T (p.Asp4437Tyr)
c.13363G>T (p.Asp4455Tyr)
c.13255G>T (p.Asp4419Tyr)
c.13432G>T (p.Asp4478Tyr)
c.13420G>T (p.Asp4474Tyr)
c.13777G>T (p.Asp4593Tyr)
c.13378G>T (p.Asp4460Tyr)
c.13366G>T (p.Asp4456Tyr)
c.13324G>T (p.Asp4442Tyr)
c.13300G>T (p.Asp4434Tyr)
c.13270G>T (p.Asp4424Tyr)
c.13447G>T (p.Asp4483Tyr)
c.13297G>T (p.Asp4433Tyr)
c.9997G>T (p.Asp3333Tyr)
 dbSNP
8g.143916470C=CA1826037237PLECc.13483G= (p.Asp4495=)
c.13402G= (p.Asp4468=)
c.13069G= (p.Asp4357=)
c.13282G= (p.Asp4428=)
c.13351G= (p.Asp4451=)
c.10051G= (p.Asp3351=)
c.13762G= (p.Asp4588=)
c.13285G= (p.Asp4429=)
c.13309G= (p.Asp4437=)
c.13363G= (p.Asp4455=)
c.13255G= (p.Asp4419=)
c.13432G= (p.Asp4478=)
c.13420G= (p.Asp4474=)
c.13777G= (p.Asp4593=)
c.13378G= (p.Asp4460=)
c.13366G= (p.Asp4456=)
c.13324G= (p.Asp4442=)
c.13300G= (p.Asp4434=)
c.13270G= (p.Asp4424=)
c.13447G= (p.Asp4483=)
c.13297G= (p.Asp4433=)
c.9997G= (p.Asp3333=)
8g.143916470C>GCA372474777PLECc.13483G>C (p.Asp4495His)
c.13402G>C (p.Asp4468His)
c.13069G>C (p.Asp4357His)
c.13282G>C (p.Asp4428His)
c.13351G>C (p.Asp4451His)
c.10051G>C (p.Asp3351His)
c.13762G>C (p.Asp4588His)
c.13285G>C (p.Asp4429His)
c.13309G>C (p.Asp4437His)
c.13363G>C (p.Asp4455His)
c.13255G>C (p.Asp4419His)
c.13432G>C (p.Asp4478His)
c.13420G>C (p.Asp4474His)
c.13777G>C (p.Asp4593His)
c.13378G>C (p.Asp4460His)
c.13366G>C (p.Asp4456His)
c.13324G>C (p.Asp4442His)
c.13300G>C (p.Asp4434His)
c.13270G>C (p.Asp4424His)
c.13447G>C (p.Asp4483His)
c.13297G>C (p.Asp4433His)
c.9997G>C (p.Asp3333His)
 gnomAD v4
8g.143916470C>TCA372474776PLECc.13483G>A (p.Asp4495Asn)
c.13402G>A (p.Asp4468Asn)
c.13069G>A (p.Asp4357Asn)
c.13282G>A (p.Asp4428Asn)
c.13351G>A (p.Asp4451Asn)
c.10051G>A (p.Asp3351Asn)
c.13762G>A (p.Asp4588Asn)
c.13285G>A (p.Asp4429Asn)
c.13309G>A (p.Asp4437Asn)
c.13363G>A (p.Asp4455Asn)
c.13255G>A (p.Asp4419Asn)
c.13432G>A (p.Asp4478Asn)
c.13420G>A (p.Asp4474Asn)
c.13777G>A (p.Asp4593Asn)
c.13378G>A (p.Asp4460Asn)
c.13366G>A (p.Asp4456Asn)
c.13324G>A (p.Asp4442Asn)
c.13300G>A (p.Asp4434Asn)
c.13270G>A (p.Asp4424Asn)
c.13447G>A (p.Asp4483Asn)
c.13297G>A (p.Asp4433Asn)
c.9997G>A (p.Asp3333Asn)
8g.143916471C>ACA463526551PLECc.13482G>T (p.Leu4494=)
c.13401G>T (p.Leu4467=)
c.13068G>T (p.Leu4356=)
c.13281G>T (p.Leu4427=)
c.13350G>T (p.Leu4450=)
c.10050G>T (p.Leu3350=)
c.13761G>T (p.Leu4587=)
c.13284G>T (p.Leu4428=)
c.13308G>T (p.Leu4436=)
c.13362G>T (p.Leu4454=)
c.13254G>T (p.Leu4418=)
c.13431G>T (p.Leu4477=)
c.13419G>T (p.Leu4473=)
c.13776G>T (p.Leu4592=)
c.13377G>T (p.Leu4459=)
c.13365G>T (p.Leu4455=)
c.13323G>T (p.Leu4441=)
c.13299G>T (p.Leu4433=)
c.13269G>T (p.Leu4423=)
c.13446G>T (p.Leu4482=)
c.13296G>T (p.Leu4432=)
c.9996G>T (p.Leu3332=)
8g.143916471C=CA1826037240PLECc.13482G= (p.Leu4494=)
c.13401G= (p.Leu4467=)
c.13068G= (p.Leu4356=)
c.13281G= (p.Leu4427=)
c.13350G= (p.Leu4450=)
c.10050G= (p.Leu3350=)
c.13761G= (p.Leu4587=)
c.13284G= (p.Leu4428=)
c.13308G= (p.Leu4436=)
c.13362G= (p.Leu4454=)
c.13254G= (p.Leu4418=)
c.13431G= (p.Leu4477=)
c.13419G= (p.Leu4473=)
c.13776G= (p.Leu4592=)
c.13377G= (p.Leu4459=)
c.13365G= (p.Leu4455=)
c.13323G= (p.Leu4441=)
c.13299G= (p.Leu4433=)
c.13269G= (p.Leu4423=)
c.13446G= (p.Leu4482=)
c.13296G= (p.Leu4432=)
c.9996G= (p.Leu3332=)
8g.143916471C>GCA463526552PLECc.13482G>C (p.Leu4494=)
c.13401G>C (p.Leu4467=)
c.13068G>C (p.Leu4356=)
c.13281G>C (p.Leu4427=)
c.13350G>C (p.Leu4450=)
c.10050G>C (p.Leu3350=)
c.13761G>C (p.Leu4587=)
c.13284G>C (p.Leu4428=)
c.13308G>C (p.Leu4436=)
c.13362G>C (p.Leu4454=)
c.13254G>C (p.Leu4418=)
c.13431G>C (p.Leu4477=)
c.13419G>C (p.Leu4473=)
c.13776G>C (p.Leu4592=)
c.13377G>C (p.Leu4459=)
c.13365G>C (p.Leu4455=)
c.13323G>C (p.Leu4441=)
c.13299G>C (p.Leu4433=)
c.13269G>C (p.Leu4423=)
c.13446G>C (p.Leu4482=)
c.13296G>C (p.Leu4432=)
c.9996G>C (p.Leu3332=)
8g.143916471C>TCA4923833PLECc.13482G>A (p.Leu4494=)
c.13401G>A (p.Leu4467=)
c.13068G>A (p.Leu4356=)
c.13281G>A (p.Leu4427=)
c.13350G>A (p.Leu4450=)
c.10050G>A (p.Leu3350=)
c.13761G>A (p.Leu4587=)
c.13284G>A (p.Leu4428=)
c.13308G>A (p.Leu4436=)
c.13362G>A (p.Leu4454=)
c.13254G>A (p.Leu4418=)
c.13431G>A (p.Leu4477=)
c.13419G>A (p.Leu4473=)
c.13776G>A (p.Leu4592=)
c.13377G>A (p.Leu4459=)
c.13365G>A (p.Leu4455=)
c.13323G>A (p.Leu4441=)
c.13299G>A (p.Leu4433=)
c.13269G>A (p.Leu4423=)
c.13446G>A (p.Leu4482=)
c.13296G>A (p.Leu4432=)
c.9996G>A (p.Leu3332=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916472A>CCA372474779PLECc.13481T>G (p.Leu4494Arg)
c.13400T>G (p.Leu4467Arg)
c.13067T>G (p.Leu4356Arg)
c.13280T>G (p.Leu4427Arg)
c.13349T>G (p.Leu4450Arg)
c.10049T>G (p.Leu3350Arg)
c.13760T>G (p.Leu4587Arg)
c.13283T>G (p.Leu4428Arg)
c.13307T>G (p.Leu4436Arg)
c.13361T>G (p.Leu4454Arg)
c.13253T>G (p.Leu4418Arg)
c.13430T>G (p.Leu4477Arg)
c.13418T>G (p.Leu4473Arg)
c.13775T>G (p.Leu4592Arg)
c.13376T>G (p.Leu4459Arg)
c.13364T>G (p.Leu4455Arg)
c.13322T>G (p.Leu4441Arg)
c.13298T>G (p.Leu4433Arg)
c.13268T>G (p.Leu4423Arg)
c.13445T>G (p.Leu4482Arg)
c.13295T>G (p.Leu4432Arg)
c.9995T>G (p.Leu3332Arg)
8g.143916472A>GCA372474780PLECc.13481T>C (p.Leu4494Pro)
c.13400T>C (p.Leu4467Pro)
c.13067T>C (p.Leu4356Pro)
c.13280T>C (p.Leu4427Pro)
c.13349T>C (p.Leu4450Pro)
c.10049T>C (p.Leu3350Pro)
c.13760T>C (p.Leu4587Pro)
c.13283T>C (p.Leu4428Pro)
c.13307T>C (p.Leu4436Pro)
c.13361T>C (p.Leu4454Pro)
c.13253T>C (p.Leu4418Pro)
c.13430T>C (p.Leu4477Pro)
c.13418T>C (p.Leu4473Pro)
c.13775T>C (p.Leu4592Pro)
c.13376T>C (p.Leu4459Pro)
c.13364T>C (p.Leu4455Pro)
c.13322T>C (p.Leu4441Pro)
c.13298T>C (p.Leu4433Pro)
c.13268T>C (p.Leu4423Pro)
c.13445T>C (p.Leu4482Pro)
c.13295T>C (p.Leu4432Pro)
c.9995T>C (p.Leu3332Pro)
8g.143916472A>TCA372474781PLECc.13481T>A (p.Leu4494Gln)
c.13400T>A (p.Leu4467Gln)
c.13067T>A (p.Leu4356Gln)
c.13280T>A (p.Leu4427Gln)
c.13349T>A (p.Leu4450Gln)
c.10049T>A (p.Leu3350Gln)
c.13760T>A (p.Leu4587Gln)
c.13283T>A (p.Leu4428Gln)
c.13307T>A (p.Leu4436Gln)
c.13361T>A (p.Leu4454Gln)
c.13253T>A (p.Leu4418Gln)
c.13430T>A (p.Leu4477Gln)
c.13418T>A (p.Leu4473Gln)
c.13775T>A (p.Leu4592Gln)
c.13376T>A (p.Leu4459Gln)
c.13364T>A (p.Leu4455Gln)
c.13322T>A (p.Leu4441Gln)
c.13298T>A (p.Leu4433Gln)
c.13268T>A (p.Leu4423Gln)
c.13445T>A (p.Leu4482Gln)
c.13295T>A (p.Leu4432Gln)
c.9995T>A (p.Leu3332Gln)
8g.143916473G>ACA463526553PLECc.13480C>T (p.Leu4494=)
c.13399C>T (p.Leu4467=)
c.13066C>T (p.Leu4356=)
c.13279C>T (p.Leu4427=)
c.13348C>T (p.Leu4450=)
c.10048C>T (p.Leu3350=)
c.13759C>T (p.Leu4587=)
c.13282C>T (p.Leu4428=)
c.13306C>T (p.Leu4436=)
c.13360C>T (p.Leu4454=)
c.13252C>T (p.Leu4418=)
c.13429C>T (p.Leu4477=)
c.13417C>T (p.Leu4473=)
c.13774C>T (p.Leu4592=)
c.13375C>T (p.Leu4459=)
c.13363C>T (p.Leu4455=)
c.13321C>T (p.Leu4441=)
c.13297C>T (p.Leu4433=)
c.13267C>T (p.Leu4423=)
c.13444C>T (p.Leu4482=)
c.13294C>T (p.Leu4432=)
c.9994C>T (p.Leu3332=)
8g.143916473G>CCA372474783PLECc.13480C>G (p.Leu4494Val)
c.13399C>G (p.Leu4467Val)
c.13066C>G (p.Leu4356Val)
c.13279C>G (p.Leu4427Val)
c.13348C>G (p.Leu4450Val)
c.10048C>G (p.Leu3350Val)
c.13759C>G (p.Leu4587Val)
c.13282C>G (p.Leu4428Val)
c.13306C>G (p.Leu4436Val)
c.13360C>G (p.Leu4454Val)
c.13252C>G (p.Leu4418Val)
c.13429C>G (p.Leu4477Val)
c.13417C>G (p.Leu4473Val)
c.13774C>G (p.Leu4592Val)
c.13375C>G (p.Leu4459Val)
c.13363C>G (p.Leu4455Val)
c.13321C>G (p.Leu4441Val)
c.13297C>G (p.Leu4433Val)
c.13267C>G (p.Leu4423Val)
c.13444C>G (p.Leu4482Val)
c.13294C>G (p.Leu4432Val)
c.9994C>G (p.Leu3332Val)
8g.143916473G>TCA372474784PLECc.13480C>A (p.Leu4494Met)
c.13399C>A (p.Leu4467Met)
c.13066C>A (p.Leu4356Met)
c.13279C>A (p.Leu4427Met)
c.13348C>A (p.Leu4450Met)
c.10048C>A (p.Leu3350Met)
c.13759C>A (p.Leu4587Met)
c.13282C>A (p.Leu4428Met)
c.13306C>A (p.Leu4436Met)
c.13360C>A (p.Leu4454Met)
c.13252C>A (p.Leu4418Met)
c.13429C>A (p.Leu4477Met)
c.13417C>A (p.Leu4473Met)
c.13774C>A (p.Leu4592Met)
c.13375C>A (p.Leu4459Met)
c.13363C>A (p.Leu4455Met)
c.13321C>A (p.Leu4441Met)
c.13297C>A (p.Leu4433Met)
c.13267C>A (p.Leu4423Met)
c.13444C>A (p.Leu4482Met)
c.13294C>A (p.Leu4432Met)
c.9994C>A (p.Leu3332Met)
 gnomAD v4
8g.143916474C>ACA463526557PLECc.13479G>T (p.Ala4493=)
c.13398G>T (p.Ala4466=)
c.13065G>T (p.Ala4355=)
c.13278G>T (p.Ala4426=)
c.13347G>T (p.Ala4449=)
c.10047G>T (p.Ala3349=)
c.13758G>T (p.Ala4586=)
c.13281G>T (p.Ala4427=)
c.13305G>T (p.Ala4435=)
c.13359G>T (p.Ala4453=)
c.13251G>T (p.Ala4417=)
c.13428G>T (p.Ala4476=)
c.13416G>T (p.Ala4472=)
c.13773G>T (p.Ala4591=)
c.13374G>T (p.Ala4458=)
c.13362G>T (p.Ala4454=)
c.13320G>T (p.Ala4440=)
c.13296G>T (p.Ala4432=)
c.13266G>T (p.Ala4422=)
c.13443G>T (p.Ala4481=)
c.13293G>T (p.Ala4431=)
c.9993G>T (p.Ala3331=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143916474C=CA1826037243PLECc.13479G= (p.Ala4493=)
c.13398G= (p.Ala4466=)
c.13065G= (p.Ala4355=)
c.13278G= (p.Ala4426=)
c.13347G= (p.Ala4449=)
c.10047G= (p.Ala3349=)
c.13758G= (p.Ala4586=)
c.13281G= (p.Ala4427=)
c.13305G= (p.Ala4435=)
c.13359G= (p.Ala4453=)
c.13251G= (p.Ala4417=)
c.13428G= (p.Ala4476=)
c.13416G= (p.Ala4472=)
c.13773G= (p.Ala4591=)
c.13374G= (p.Ala4458=)
c.13362G= (p.Ala4454=)
c.13320G= (p.Ala4440=)
c.13296G= (p.Ala4432=)
c.13266G= (p.Ala4422=)
c.13443G= (p.Ala4481=)
c.13293G= (p.Ala4431=)
c.9993G= (p.Ala3331=)
8g.143916474C>GCA463526556PLECc.13479G>C (p.Ala4493=)
c.13398G>C (p.Ala4466=)
c.13065G>C (p.Ala4355=)
c.13278G>C (p.Ala4426=)
c.13347G>C (p.Ala4449=)
c.10047G>C (p.Ala3349=)
c.13758G>C (p.Ala4586=)
c.13281G>C (p.Ala4427=)
c.13305G>C (p.Ala4435=)
c.13359G>C (p.Ala4453=)
c.13251G>C (p.Ala4417=)
c.13428G>C (p.Ala4476=)
c.13416G>C (p.Ala4472=)
c.13773G>C (p.Ala4591=)
c.13374G>C (p.Ala4458=)
c.13362G>C (p.Ala4454=)
c.13320G>C (p.Ala4440=)
c.13296G>C (p.Ala4432=)
c.13266G>C (p.Ala4422=)
c.13443G>C (p.Ala4481=)
c.13293G>C (p.Ala4431=)
c.9993G>C (p.Ala3331=)
8g.143916474C>TCA4923834PLECc.13479G>A (p.Ala4493=)
c.13398G>A (p.Ala4466=)
c.13065G>A (p.Ala4355=)
c.13278G>A (p.Ala4426=)
c.13347G>A (p.Ala4449=)
c.10047G>A (p.Ala3349=)
c.13758G>A (p.Ala4586=)
c.13281G>A (p.Ala4427=)
c.13305G>A (p.Ala4435=)
c.13359G>A (p.Ala4453=)
c.13251G>A (p.Ala4417=)
c.13428G>A (p.Ala4476=)
c.13416G>A (p.Ala4472=)
c.13773G>A (p.Ala4591=)
c.13374G>A (p.Ala4458=)
c.13362G>A (p.Ala4454=)
c.13320G>A (p.Ala4440=)
c.13296G>A (p.Ala4432=)
c.13266G>A (p.Ala4422=)
c.13443G>A (p.Ala4481=)
c.13293G>A (p.Ala4431=)
c.9993G>A (p.Ala3331=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched