Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.143916530A>CCA372475717PLECc.13423T>G (p.Tyr4475Asp)
c.13342T>G (p.Tyr4448Asp)
c.13009T>G (p.Tyr4337Asp)
c.13222T>G (p.Tyr4408Asp)
c.13291T>G (p.Tyr4431Asp)
c.9991T>G (p.Tyr3331Asp)
c.13702T>G (p.Tyr4568Asp)
c.13225T>G (p.Tyr4409Asp)
c.13249T>G (p.Tyr4417Asp)
c.13303T>G (p.Tyr4435Asp)
c.13195T>G (p.Tyr4399Asp)
c.13372T>G (p.Tyr4458Asp)
c.13360T>G (p.Tyr4454Asp)
c.13717T>G (p.Tyr4573Asp)
c.13318T>G (p.Tyr4440Asp)
c.13306T>G (p.Tyr4436Asp)
c.13264T>G (p.Tyr4422Asp)
c.13240T>G (p.Tyr4414Asp)
c.13210T>G (p.Tyr4404Asp)
c.13387T>G (p.Tyr4463Asp)
c.13237T>G (p.Tyr4413Asp)
c.9937T>G (p.Tyr3313Asp)
8g.143916530A>GCA372475716PLECc.13423T>C (p.Tyr4475His)
c.13342T>C (p.Tyr4448His)
c.13009T>C (p.Tyr4337His)
c.13222T>C (p.Tyr4408His)
c.13291T>C (p.Tyr4431His)
c.9991T>C (p.Tyr3331His)
c.13702T>C (p.Tyr4568His)
c.13225T>C (p.Tyr4409His)
c.13249T>C (p.Tyr4417His)
c.13303T>C (p.Tyr4435His)
c.13195T>C (p.Tyr4399His)
c.13372T>C (p.Tyr4458His)
c.13360T>C (p.Tyr4454His)
c.13717T>C (p.Tyr4573His)
c.13318T>C (p.Tyr4440His)
c.13306T>C (p.Tyr4436His)
c.13264T>C (p.Tyr4422His)
c.13240T>C (p.Tyr4414His)
c.13210T>C (p.Tyr4404His)
c.13387T>C (p.Tyr4463His)
c.13237T>C (p.Tyr4413His)
c.9937T>C (p.Tyr3313His)
8g.143916530A>TCA372475715PLECc.13423T>A (p.Tyr4475Asn)
c.13342T>A (p.Tyr4448Asn)
c.13009T>A (p.Tyr4337Asn)
c.13222T>A (p.Tyr4408Asn)
c.13291T>A (p.Tyr4431Asn)
c.9991T>A (p.Tyr3331Asn)
c.13702T>A (p.Tyr4568Asn)
c.13225T>A (p.Tyr4409Asn)
c.13249T>A (p.Tyr4417Asn)
c.13303T>A (p.Tyr4435Asn)
c.13195T>A (p.Tyr4399Asn)
c.13372T>A (p.Tyr4458Asn)
c.13360T>A (p.Tyr4454Asn)
c.13717T>A (p.Tyr4573Asn)
c.13318T>A (p.Tyr4440Asn)
c.13306T>A (p.Tyr4436Asn)
c.13264T>A (p.Tyr4422Asn)
c.13240T>A (p.Tyr4414Asn)
c.13210T>A (p.Tyr4404Asn)
c.13387T>A (p.Tyr4463Asn)
c.13237T>A (p.Tyr4413Asn)
c.9937T>A (p.Tyr3313Asn)
8g.143916531G>ACA463525669PLECc.13422C>T (p.Ala4474=)
c.13341C>T (p.Ala4447=)
c.13008C>T (p.Ala4336=)
c.13221C>T (p.Ala4407=)
c.13290C>T (p.Ala4430=)
c.9990C>T (p.Ala3330=)
c.13701C>T (p.Ala4567=)
c.13224C>T (p.Ala4408=)
c.13248C>T (p.Ala4416=)
c.13302C>T (p.Ala4434=)
c.13194C>T (p.Ala4398=)
c.13371C>T (p.Ala4457=)
c.13359C>T (p.Ala4453=)
c.13716C>T (p.Ala4572=)
c.13317C>T (p.Ala4439=)
c.13305C>T (p.Ala4435=)
c.13263C>T (p.Ala4421=)
c.13239C>T (p.Ala4413=)
c.13209C>T (p.Ala4403=)
c.13386C>T (p.Ala4462=)
c.13236C>T (p.Ala4412=)
c.9936C>T (p.Ala3312=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143916531G>CCA463525670PLECc.13422C>G (p.Ala4474=)
c.13341C>G (p.Ala4447=)
c.13008C>G (p.Ala4336=)
c.13221C>G (p.Ala4407=)
c.13290C>G (p.Ala4430=)
c.9990C>G (p.Ala3330=)
c.13701C>G (p.Ala4567=)
c.13224C>G (p.Ala4408=)
c.13248C>G (p.Ala4416=)
c.13302C>G (p.Ala4434=)
c.13194C>G (p.Ala4398=)
c.13371C>G (p.Ala4457=)
c.13359C>G (p.Ala4453=)
c.13716C>G (p.Ala4572=)
c.13317C>G (p.Ala4439=)
c.13305C>G (p.Ala4435=)
c.13263C>G (p.Ala4421=)
c.13239C>G (p.Ala4413=)
c.13209C>G (p.Ala4403=)
c.13386C>G (p.Ala4462=)
c.13236C>G (p.Ala4412=)
c.9936C>G (p.Ala3312=)
8g.143916531G=CA1826037326PLECc.13422C= (p.Ala4474=)
c.13341C= (p.Ala4447=)
c.13008C= (p.Ala4336=)
c.13221C= (p.Ala4407=)
c.13290C= (p.Ala4430=)
c.9990C= (p.Ala3330=)
c.13701C= (p.Ala4567=)
c.13224C= (p.Ala4408=)
c.13248C= (p.Ala4416=)
c.13302C= (p.Ala4434=)
c.13194C= (p.Ala4398=)
c.13371C= (p.Ala4457=)
c.13359C= (p.Ala4453=)
c.13716C= (p.Ala4572=)
c.13317C= (p.Ala4439=)
c.13305C= (p.Ala4435=)
c.13263C= (p.Ala4421=)
c.13239C= (p.Ala4413=)
c.13209C= (p.Ala4403=)
c.13386C= (p.Ala4462=)
c.13236C= (p.Ala4412=)
c.9936C= (p.Ala3312=)
8g.143916531G>TCA463525671PLECc.13422C>A (p.Ala4474=)
c.13341C>A (p.Ala4447=)
c.13008C>A (p.Ala4336=)
c.13221C>A (p.Ala4407=)
c.13290C>A (p.Ala4430=)
c.9990C>A (p.Ala3330=)
c.13701C>A (p.Ala4567=)
c.13224C>A (p.Ala4408=)
c.13248C>A (p.Ala4416=)
c.13302C>A (p.Ala4434=)
c.13194C>A (p.Ala4398=)
c.13371C>A (p.Ala4457=)
c.13359C>A (p.Ala4453=)
c.13716C>A (p.Ala4572=)
c.13317C>A (p.Ala4439=)
c.13305C>A (p.Ala4435=)
c.13263C>A (p.Ala4421=)
c.13239C>A (p.Ala4413=)
c.13209C>A (p.Ala4403=)
c.13386C>A (p.Ala4462=)
c.13236C>A (p.Ala4412=)
c.9936C>A (p.Ala3312=)
8g.143916532G>ACA372475718PLECc.13421C>T (p.Ala4474Val)
c.13340C>T (p.Ala4447Val)
c.13007C>T (p.Ala4336Val)
c.13220C>T (p.Ala4407Val)
c.13289C>T (p.Ala4430Val)
c.9989C>T (p.Ala3330Val)
c.13700C>T (p.Ala4567Val)
c.13223C>T (p.Ala4408Val)
c.13247C>T (p.Ala4416Val)
c.13301C>T (p.Ala4434Val)
c.13193C>T (p.Ala4398Val)
c.13370C>T (p.Ala4457Val)
c.13358C>T (p.Ala4453Val)
c.13715C>T (p.Ala4572Val)
c.13316C>T (p.Ala4439Val)
c.13304C>T (p.Ala4435Val)
c.13262C>T (p.Ala4421Val)
c.13238C>T (p.Ala4413Val)
c.13208C>T (p.Ala4403Val)
c.13385C>T (p.Ala4462Val)
c.13235C>T (p.Ala4412Val)
c.9935C>T (p.Ala3312Val)
 gnomAD v4
8g.143916532G>CCA372475719PLECc.13421C>G (p.Ala4474Gly)
c.13340C>G (p.Ala4447Gly)
c.13007C>G (p.Ala4336Gly)
c.13220C>G (p.Ala4407Gly)
c.13289C>G (p.Ala4430Gly)
c.9989C>G (p.Ala3330Gly)
c.13700C>G (p.Ala4567Gly)
c.13223C>G (p.Ala4408Gly)
c.13247C>G (p.Ala4416Gly)
c.13301C>G (p.Ala4434Gly)
c.13193C>G (p.Ala4398Gly)
c.13370C>G (p.Ala4457Gly)
c.13358C>G (p.Ala4453Gly)
c.13715C>G (p.Ala4572Gly)
c.13316C>G (p.Ala4439Gly)
c.13304C>G (p.Ala4435Gly)
c.13262C>G (p.Ala4421Gly)
c.13238C>G (p.Ala4413Gly)
c.13208C>G (p.Ala4403Gly)
c.13385C>G (p.Ala4462Gly)
c.13235C>G (p.Ala4412Gly)
c.9935C>G (p.Ala3312Gly)
 dbSNP gnomAD v4
8g.143916532G=CA1826037329PLECc.13421C= (p.Ala4474=)
c.13340C= (p.Ala4447=)
c.13007C= (p.Ala4336=)
c.13220C= (p.Ala4407=)
c.13289C= (p.Ala4430=)
c.9989C= (p.Ala3330=)
c.13700C= (p.Ala4567=)
c.13223C= (p.Ala4408=)
c.13247C= (p.Ala4416=)
c.13301C= (p.Ala4434=)
c.13193C= (p.Ala4398=)
c.13370C= (p.Ala4457=)
c.13358C= (p.Ala4453=)
c.13715C= (p.Ala4572=)
c.13316C= (p.Ala4439=)
c.13304C= (p.Ala4435=)
c.13262C= (p.Ala4421=)
c.13238C= (p.Ala4413=)
c.13208C= (p.Ala4403=)
c.13385C= (p.Ala4462=)
c.13235C= (p.Ala4412=)
c.9935C= (p.Ala3312=)
8g.143916532G>TCA372475720PLECc.13421C>A (p.Ala4474Asp)
c.13340C>A (p.Ala4447Asp)
c.13007C>A (p.Ala4336Asp)
c.13220C>A (p.Ala4407Asp)
c.13289C>A (p.Ala4430Asp)
c.9989C>A (p.Ala3330Asp)
c.13700C>A (p.Ala4567Asp)
c.13223C>A (p.Ala4408Asp)
c.13247C>A (p.Ala4416Asp)
c.13301C>A (p.Ala4434Asp)
c.13193C>A (p.Ala4398Asp)
c.13370C>A (p.Ala4457Asp)
c.13358C>A (p.Ala4453Asp)
c.13715C>A (p.Ala4572Asp)
c.13316C>A (p.Ala4439Asp)
c.13304C>A (p.Ala4435Asp)
c.13262C>A (p.Ala4421Asp)
c.13238C>A (p.Ala4413Asp)
c.13208C>A (p.Ala4403Asp)
c.13385C>A (p.Ala4462Asp)
c.13235C>A (p.Ala4412Asp)
c.9935C>A (p.Ala3312Asp)
 gnomAD v4
8g.143916533C>ACA372475721PLECc.13420G>T (p.Ala4474Ser)
c.13339G>T (p.Ala4447Ser)
c.13006G>T (p.Ala4336Ser)
c.13219G>T (p.Ala4407Ser)
c.13288G>T (p.Ala4430Ser)
c.9988G>T (p.Ala3330Ser)
c.13699G>T (p.Ala4567Ser)
c.13222G>T (p.Ala4408Ser)
c.13246G>T (p.Ala4416Ser)
c.13300G>T (p.Ala4434Ser)
c.13192G>T (p.Ala4398Ser)
c.13369G>T (p.Ala4457Ser)
c.13357G>T (p.Ala4453Ser)
c.13714G>T (p.Ala4572Ser)
c.13315G>T (p.Ala4439Ser)
c.13303G>T (p.Ala4435Ser)
c.13261G>T (p.Ala4421Ser)
c.13237G>T (p.Ala4413Ser)
c.13207G>T (p.Ala4403Ser)
c.13384G>T (p.Ala4462Ser)
c.13234G>T (p.Ala4412Ser)
c.9934G>T (p.Ala3312Ser)
8g.143916533C=CA1826037333PLECc.13420G= (p.Ala4474=)
c.13339G= (p.Ala4447=)
c.13006G= (p.Ala4336=)
c.13219G= (p.Ala4407=)
c.13288G= (p.Ala4430=)
c.9988G= (p.Ala3330=)
c.13699G= (p.Ala4567=)
c.13222G= (p.Ala4408=)
c.13246G= (p.Ala4416=)
c.13300G= (p.Ala4434=)
c.13192G= (p.Ala4398=)
c.13369G= (p.Ala4457=)
c.13357G= (p.Ala4453=)
c.13714G= (p.Ala4572=)
c.13315G= (p.Ala4439=)
c.13303G= (p.Ala4435=)
c.13261G= (p.Ala4421=)
c.13237G= (p.Ala4413=)
c.13207G= (p.Ala4403=)
c.13384G= (p.Ala4462=)
c.13234G= (p.Ala4412=)
c.9934G= (p.Ala3312=)
8g.143916533C>GCA372475722PLECc.13420G>C (p.Ala4474Pro)
c.13339G>C (p.Ala4447Pro)
c.13006G>C (p.Ala4336Pro)
c.13219G>C (p.Ala4407Pro)
c.13288G>C (p.Ala4430Pro)
c.9988G>C (p.Ala3330Pro)
c.13699G>C (p.Ala4567Pro)
c.13222G>C (p.Ala4408Pro)
c.13246G>C (p.Ala4416Pro)
c.13300G>C (p.Ala4434Pro)
c.13192G>C (p.Ala4398Pro)
c.13369G>C (p.Ala4457Pro)
c.13357G>C (p.Ala4453Pro)
c.13714G>C (p.Ala4572Pro)
c.13315G>C (p.Ala4439Pro)
c.13303G>C (p.Ala4435Pro)
c.13261G>C (p.Ala4421Pro)
c.13237G>C (p.Ala4413Pro)
c.13207G>C (p.Ala4403Pro)
c.13384G>C (p.Ala4462Pro)
c.13234G>C (p.Ala4412Pro)
c.9934G>C (p.Ala3312Pro)
8g.143916533C>TCA4923849PLECc.13420G>A (p.Ala4474Thr)
c.13339G>A (p.Ala4447Thr)
c.13006G>A (p.Ala4336Thr)
c.13219G>A (p.Ala4407Thr)
c.13288G>A (p.Ala4430Thr)
c.9988G>A (p.Ala3330Thr)
c.13699G>A (p.Ala4567Thr)
c.13222G>A (p.Ala4408Thr)
c.13246G>A (p.Ala4416Thr)
c.13300G>A (p.Ala4434Thr)
c.13192G>A (p.Ala4398Thr)
c.13369G>A (p.Ala4457Thr)
c.13357G>A (p.Ala4453Thr)
c.13714G>A (p.Ala4572Thr)
c.13315G>A (p.Ala4439Thr)
c.13303G>A (p.Ala4435Thr)
c.13261G>A (p.Ala4421Thr)
c.13237G>A (p.Ala4413Thr)
c.13207G>A (p.Ala4403Thr)
c.13384G>A (p.Ala4462Thr)
c.13234G>A (p.Ala4412Thr)
c.9934G>A (p.Ala3312Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916534G>ACA463525672PLECc.13419C>T (p.Gly4473=)
c.13338C>T (p.Gly4446=)
c.13005C>T (p.Gly4335=)
c.13218C>T (p.Gly4406=)
c.13287C>T (p.Gly4429=)
c.9987C>T (p.Gly3329=)
c.13698C>T (p.Gly4566=)
c.13221C>T (p.Gly4407=)
c.13245C>T (p.Gly4415=)
c.13299C>T (p.Gly4433=)
c.13191C>T (p.Gly4397=)
c.13368C>T (p.Gly4456=)
c.13356C>T (p.Gly4452=)
c.13713C>T (p.Gly4571=)
c.13314C>T (p.Gly4438=)
c.13302C>T (p.Gly4434=)
c.13260C>T (p.Gly4420=)
c.13236C>T (p.Gly4412=)
c.13206C>T (p.Gly4402=)
c.13383C>T (p.Gly4461=)
c.13233C>T (p.Gly4411=)
c.9933C>T (p.Gly3311=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143916534G>CCA463525673PLECc.13419C>G (p.Gly4473=)
c.13338C>G (p.Gly4446=)
c.13005C>G (p.Gly4335=)
c.13218C>G (p.Gly4406=)
c.13287C>G (p.Gly4429=)
c.9987C>G (p.Gly3329=)
c.13698C>G (p.Gly4566=)
c.13221C>G (p.Gly4407=)
c.13245C>G (p.Gly4415=)
c.13299C>G (p.Gly4433=)
c.13191C>G (p.Gly4397=)
c.13368C>G (p.Gly4456=)
c.13356C>G (p.Gly4452=)
c.13713C>G (p.Gly4571=)
c.13314C>G (p.Gly4438=)
c.13302C>G (p.Gly4434=)
c.13260C>G (p.Gly4420=)
c.13236C>G (p.Gly4412=)
c.13206C>G (p.Gly4402=)
c.13383C>G (p.Gly4461=)
c.13233C>G (p.Gly4411=)
c.9933C>G (p.Gly3311=)
8g.143916534G=CA1826037338PLECc.13419C= (p.Gly4473=)
c.13338C= (p.Gly4446=)
c.13005C= (p.Gly4335=)
c.13218C= (p.Gly4406=)
c.13287C= (p.Gly4429=)
c.9987C= (p.Gly3329=)
c.13698C= (p.Gly4566=)
c.13221C= (p.Gly4407=)
c.13245C= (p.Gly4415=)
c.13299C= (p.Gly4433=)
c.13191C= (p.Gly4397=)
c.13368C= (p.Gly4456=)
c.13356C= (p.Gly4452=)
c.13713C= (p.Gly4571=)
c.13314C= (p.Gly4438=)
c.13302C= (p.Gly4434=)
c.13260C= (p.Gly4420=)
c.13236C= (p.Gly4412=)
c.13206C= (p.Gly4402=)
c.13383C= (p.Gly4461=)
c.13233C= (p.Gly4411=)
c.9933C= (p.Gly3311=)
8g.143916534G>TCA244424PLECc.13419C>A (p.Gly4473=)
c.13338C>A (p.Gly4446=)
c.13005C>A (p.Gly4335=)
c.13218C>A (p.Gly4406=)
c.13287C>A (p.Gly4429=)
c.9987C>A (p.Gly3329=)
c.13698C>A (p.Gly4566=)
c.13221C>A (p.Gly4407=)
c.13245C>A (p.Gly4415=)
c.13299C>A (p.Gly4433=)
c.13191C>A (p.Gly4397=)
c.13368C>A (p.Gly4456=)
c.13356C>A (p.Gly4452=)
c.13713C>A (p.Gly4571=)
c.13314C>A (p.Gly4438=)
c.13302C>A (p.Gly4434=)
c.13260C>A (p.Gly4420=)
c.13236C>A (p.Gly4412=)
c.13206C>A (p.Gly4402=)
c.13383C>A (p.Gly4461=)
c.13233C>A (p.Gly4411=)
c.9933C>A (p.Gly3311=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916535C>ACA372475723PLECc.13418G>T (p.Gly4473Val)
c.13337G>T (p.Gly4446Val)
c.13004G>T (p.Gly4335Val)
c.13217G>T (p.Gly4406Val)
c.13286G>T (p.Gly4429Val)
c.9986G>T (p.Gly3329Val)
c.13697G>T (p.Gly4566Val)
c.13220G>T (p.Gly4407Val)
c.13244G>T (p.Gly4415Val)
c.13298G>T (p.Gly4433Val)
c.13190G>T (p.Gly4397Val)
c.13367G>T (p.Gly4456Val)
c.13355G>T (p.Gly4452Val)
c.13712G>T (p.Gly4571Val)
c.13313G>T (p.Gly4438Val)
c.13301G>T (p.Gly4434Val)
c.13259G>T (p.Gly4420Val)
c.13235G>T (p.Gly4412Val)
c.13205G>T (p.Gly4402Val)
c.13382G>T (p.Gly4461Val)
c.13232G>T (p.Gly4411Val)
c.9932G>T (p.Gly3311Val)
 gnomAD v4
8g.143916535C=CA1826037340PLECc.13418G= (p.Gly4473=)
c.13337G= (p.Gly4446=)
c.13004G= (p.Gly4335=)
c.13217G= (p.Gly4406=)
c.13286G= (p.Gly4429=)
c.9986G= (p.Gly3329=)
c.13697G= (p.Gly4566=)
c.13220G= (p.Gly4407=)
c.13244G= (p.Gly4415=)
c.13298G= (p.Gly4433=)
c.13190G= (p.Gly4397=)
c.13367G= (p.Gly4456=)
c.13355G= (p.Gly4452=)
c.13712G= (p.Gly4571=)
c.13313G= (p.Gly4438=)
c.13301G= (p.Gly4434=)
c.13259G= (p.Gly4420=)
c.13235G= (p.Gly4412=)
c.13205G= (p.Gly4402=)
c.13382G= (p.Gly4461=)
c.13232G= (p.Gly4411=)
c.9932G= (p.Gly3311=)
8g.143916535C>GCA372475725PLECc.13418G>C (p.Gly4473Ala)
c.13337G>C (p.Gly4446Ala)
c.13004G>C (p.Gly4335Ala)
c.13217G>C (p.Gly4406Ala)
c.13286G>C (p.Gly4429Ala)
c.9986G>C (p.Gly3329Ala)
c.13697G>C (p.Gly4566Ala)
c.13220G>C (p.Gly4407Ala)
c.13244G>C (p.Gly4415Ala)
c.13298G>C (p.Gly4433Ala)
c.13190G>C (p.Gly4397Ala)
c.13367G>C (p.Gly4456Ala)
c.13355G>C (p.Gly4452Ala)
c.13712G>C (p.Gly4571Ala)
c.13313G>C (p.Gly4438Ala)
c.13301G>C (p.Gly4434Ala)
c.13259G>C (p.Gly4420Ala)
c.13235G>C (p.Gly4412Ala)
c.13205G>C (p.Gly4402Ala)
c.13382G>C (p.Gly4461Ala)
c.13232G>C (p.Gly4411Ala)
c.9932G>C (p.Gly3311Ala)
 dbSNP
8g.143916535C>TCA372475724PLECc.13418G>A (p.Gly4473Asp)
c.13337G>A (p.Gly4446Asp)
c.13004G>A (p.Gly4335Asp)
c.13217G>A (p.Gly4406Asp)
c.13286G>A (p.Gly4429Asp)
c.9986G>A (p.Gly3329Asp)
c.13697G>A (p.Gly4566Asp)
c.13220G>A (p.Gly4407Asp)
c.13244G>A (p.Gly4415Asp)
c.13298G>A (p.Gly4433Asp)
c.13190G>A (p.Gly4397Asp)
c.13367G>A (p.Gly4456Asp)
c.13355G>A (p.Gly4452Asp)
c.13712G>A (p.Gly4571Asp)
c.13313G>A (p.Gly4438Asp)
c.13301G>A (p.Gly4434Asp)
c.13259G>A (p.Gly4420Asp)
c.13235G>A (p.Gly4412Asp)
c.13205G>A (p.Gly4402Asp)
c.13382G>A (p.Gly4461Asp)
c.13232G>A (p.Gly4411Asp)
c.9932G>A (p.Gly3311Asp)
8g.143916536C>ACA372475726PLECc.13417G>T (p.Gly4473Cys)
c.13336G>T (p.Gly4446Cys)
c.13003G>T (p.Gly4335Cys)
c.13216G>T (p.Gly4406Cys)
c.13285G>T (p.Gly4429Cys)
c.9985G>T (p.Gly3329Cys)
c.13696G>T (p.Gly4566Cys)
c.13219G>T (p.Gly4407Cys)
c.13243G>T (p.Gly4415Cys)
c.13297G>T (p.Gly4433Cys)
c.13189G>T (p.Gly4397Cys)
c.13366G>T (p.Gly4456Cys)
c.13354G>T (p.Gly4452Cys)
c.13711G>T (p.Gly4571Cys)
c.13312G>T (p.Gly4438Cys)
c.13300G>T (p.Gly4434Cys)
c.13258G>T (p.Gly4420Cys)
c.13234G>T (p.Gly4412Cys)
c.13204G>T (p.Gly4402Cys)
c.13381G>T (p.Gly4461Cys)
c.13231G>T (p.Gly4411Cys)
c.9931G>T (p.Gly3311Cys)
 gnomAD v4
8g.143916536C=CA1826037342PLECc.13417G= (p.Gly4473=)
c.13336G= (p.Gly4446=)
c.13003G= (p.Gly4335=)
c.13216G= (p.Gly4406=)
c.13285G= (p.Gly4429=)
c.9985G= (p.Gly3329=)
c.13696G= (p.Gly4566=)
c.13219G= (p.Gly4407=)
c.13243G= (p.Gly4415=)
c.13297G= (p.Gly4433=)
c.13189G= (p.Gly4397=)
c.13366G= (p.Gly4456=)
c.13354G= (p.Gly4452=)
c.13711G= (p.Gly4571=)
c.13312G= (p.Gly4438=)
c.13300G= (p.Gly4434=)
c.13258G= (p.Gly4420=)
c.13234G= (p.Gly4412=)
c.13204G= (p.Gly4402=)
c.13381G= (p.Gly4461=)
c.13231G= (p.Gly4411=)
c.9931G= (p.Gly3311=)
8g.143916536C>GCA372475727PLECc.13417G>C (p.Gly4473Arg)
c.13336G>C (p.Gly4446Arg)
c.13003G>C (p.Gly4335Arg)
c.13216G>C (p.Gly4406Arg)
c.13285G>C (p.Gly4429Arg)
c.9985G>C (p.Gly3329Arg)
c.13696G>C (p.Gly4566Arg)
c.13219G>C (p.Gly4407Arg)
c.13243G>C (p.Gly4415Arg)
c.13297G>C (p.Gly4433Arg)
c.13189G>C (p.Gly4397Arg)
c.13366G>C (p.Gly4456Arg)
c.13354G>C (p.Gly4452Arg)
c.13711G>C (p.Gly4571Arg)
c.13312G>C (p.Gly4438Arg)
c.13300G>C (p.Gly4434Arg)
c.13258G>C (p.Gly4420Arg)
c.13234G>C (p.Gly4412Arg)
c.13204G>C (p.Gly4402Arg)
c.13381G>C (p.Gly4461Arg)
c.13231G>C (p.Gly4411Arg)
c.9931G>C (p.Gly3311Arg)
8g.143916536C>TCA4923850PLECc.13417G>A (p.Gly4473Ser)
c.13336G>A (p.Gly4446Ser)
c.13003G>A (p.Gly4335Ser)
c.13216G>A (p.Gly4406Ser)
c.13285G>A (p.Gly4429Ser)
c.9985G>A (p.Gly3329Ser)
c.13696G>A (p.Gly4566Ser)
c.13219G>A (p.Gly4407Ser)
c.13243G>A (p.Gly4415Ser)
c.13297G>A (p.Gly4433Ser)
c.13189G>A (p.Gly4397Ser)
c.13366G>A (p.Gly4456Ser)
c.13354G>A (p.Gly4452Ser)
c.13711G>A (p.Gly4571Ser)
c.13312G>A (p.Gly4438Ser)
c.13300G>A (p.Gly4434Ser)
c.13258G>A (p.Gly4420Ser)
c.13234G>A (p.Gly4412Ser)
c.13204G>A (p.Gly4402Ser)
c.13381G>A (p.Gly4461Ser)
c.13231G>A (p.Gly4411Ser)
c.9931G>A (p.Gly3311Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916537C>ACA463525674PLECc.13416G>T (p.Val4472=)
c.13335G>T (p.Val4445=)
c.13002G>T (p.Val4334=)
c.13215G>T (p.Val4405=)
c.13284G>T (p.Val4428=)
c.9984G>T (p.Val3328=)
c.13695G>T (p.Val4565=)
c.13218G>T (p.Val4406=)
c.13242G>T (p.Val4414=)
c.13296G>T (p.Val4432=)
c.13188G>T (p.Val4396=)
c.13365G>T (p.Val4455=)
c.13353G>T (p.Val4451=)
c.13710G>T (p.Val4570=)
c.13311G>T (p.Val4437=)
c.13299G>T (p.Val4433=)
c.13257G>T (p.Val4419=)
c.13233G>T (p.Val4411=)
c.13203G>T (p.Val4401=)
c.13380G>T (p.Val4460=)
c.13230G>T (p.Val4410=)
c.9930G>T (p.Val3310=)
8g.143916537C=CA1826037344PLECc.13416G= (p.Val4472=)
c.13335G= (p.Val4445=)
c.13002G= (p.Val4334=)
c.13215G= (p.Val4405=)
c.13284G= (p.Val4428=)
c.9984G= (p.Val3328=)
c.13695G= (p.Val4565=)
c.13218G= (p.Val4406=)
c.13242G= (p.Val4414=)
c.13296G= (p.Val4432=)
c.13188G= (p.Val4396=)
c.13365G= (p.Val4455=)
c.13353G= (p.Val4451=)
c.13710G= (p.Val4570=)
c.13311G= (p.Val4437=)
c.13299G= (p.Val4433=)
c.13257G= (p.Val4419=)
c.13233G= (p.Val4411=)
c.13203G= (p.Val4401=)
c.13380G= (p.Val4460=)
c.13230G= (p.Val4410=)
c.9930G= (p.Val3310=)
8g.143916537C>GCA463525675PLECc.13416G>C (p.Val4472=)
c.13335G>C (p.Val4445=)
c.13002G>C (p.Val4334=)
c.13215G>C (p.Val4405=)
c.13284G>C (p.Val4428=)
c.9984G>C (p.Val3328=)
c.13695G>C (p.Val4565=)
c.13218G>C (p.Val4406=)
c.13242G>C (p.Val4414=)
c.13296G>C (p.Val4432=)
c.13188G>C (p.Val4396=)
c.13365G>C (p.Val4455=)
c.13353G>C (p.Val4451=)
c.13710G>C (p.Val4570=)
c.13311G>C (p.Val4437=)
c.13299G>C (p.Val4433=)
c.13257G>C (p.Val4419=)
c.13233G>C (p.Val4411=)
c.13203G>C (p.Val4401=)
c.13380G>C (p.Val4460=)
c.13230G>C (p.Val4410=)
c.9930G>C (p.Val3310=)
8g.143916537C>TCA463525676PLECc.13416G>A (p.Val4472=)
c.13335G>A (p.Val4445=)
c.13002G>A (p.Val4334=)
c.13215G>A (p.Val4405=)
c.13284G>A (p.Val4428=)
c.9984G>A (p.Val3328=)
c.13695G>A (p.Val4565=)
c.13218G>A (p.Val4406=)
c.13242G>A (p.Val4414=)
c.13296G>A (p.Val4432=)
c.13188G>A (p.Val4396=)
c.13365G>A (p.Val4455=)
c.13353G>A (p.Val4451=)
c.13710G>A (p.Val4570=)
c.13311G>A (p.Val4437=)
c.13299G>A (p.Val4433=)
c.13257G>A (p.Val4419=)
c.13233G>A (p.Val4411=)
c.13203G>A (p.Val4401=)
c.13380G>A (p.Val4460=)
c.13230G>A (p.Val4410=)
c.9930G>A (p.Val3310=)
 dbSNP gnomAD v4
8g.143916538A=CA1826037346PLECc.13415T= (p.Val4472=)
c.13334T= (p.Val4445=)
c.13001T= (p.Val4334=)
c.13214T= (p.Val4405=)
c.13283T= (p.Val4428=)
c.9983T= (p.Val3328=)
c.13694T= (p.Val4565=)
c.13217T= (p.Val4406=)
c.13241T= (p.Val4414=)
c.13295T= (p.Val4432=)
c.13187T= (p.Val4396=)
c.13364T= (p.Val4455=)
c.13352T= (p.Val4451=)
c.13709T= (p.Val4570=)
c.13310T= (p.Val4437=)
c.13298T= (p.Val4433=)
c.13256T= (p.Val4419=)
c.13232T= (p.Val4411=)
c.13202T= (p.Val4401=)
c.13379T= (p.Val4460=)
c.13229T= (p.Val4410=)
c.9929T= (p.Val3310=)
8g.143916538A>CCA372475728PLECc.13415T>G (p.Val4472Gly)
c.13334T>G (p.Val4445Gly)
c.13001T>G (p.Val4334Gly)
c.13214T>G (p.Val4405Gly)
c.13283T>G (p.Val4428Gly)
c.9983T>G (p.Val3328Gly)
c.13694T>G (p.Val4565Gly)
c.13217T>G (p.Val4406Gly)
c.13241T>G (p.Val4414Gly)
c.13295T>G (p.Val4432Gly)
c.13187T>G (p.Val4396Gly)
c.13364T>G (p.Val4455Gly)
c.13352T>G (p.Val4451Gly)
c.13709T>G (p.Val4570Gly)
c.13310T>G (p.Val4437Gly)
c.13298T>G (p.Val4433Gly)
c.13256T>G (p.Val4419Gly)
c.13232T>G (p.Val4411Gly)
c.13202T>G (p.Val4401Gly)
c.13379T>G (p.Val4460Gly)
c.13229T>G (p.Val4410Gly)
c.9929T>G (p.Val3310Gly)
8g.143916538A>GCA4923851PLECc.13415T>C (p.Val4472Ala)
c.13334T>C (p.Val4445Ala)
c.13001T>C (p.Val4334Ala)
c.13214T>C (p.Val4405Ala)
c.13283T>C (p.Val4428Ala)
c.9983T>C (p.Val3328Ala)
c.13694T>C (p.Val4565Ala)
c.13217T>C (p.Val4406Ala)
c.13241T>C (p.Val4414Ala)
c.13295T>C (p.Val4432Ala)
c.13187T>C (p.Val4396Ala)
c.13364T>C (p.Val4455Ala)
c.13352T>C (p.Val4451Ala)
c.13709T>C (p.Val4570Ala)
c.13310T>C (p.Val4437Ala)
c.13298T>C (p.Val4433Ala)
c.13256T>C (p.Val4419Ala)
c.13232T>C (p.Val4411Ala)
c.13202T>C (p.Val4401Ala)
c.13379T>C (p.Val4460Ala)
c.13229T>C (p.Val4410Ala)
c.9929T>C (p.Val3310Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916538A>TCA372475729PLECc.13415T>A (p.Val4472Glu)
c.13334T>A (p.Val4445Glu)
c.13001T>A (p.Val4334Glu)
c.13214T>A (p.Val4405Glu)
c.13283T>A (p.Val4428Glu)
c.9983T>A (p.Val3328Glu)
c.13694T>A (p.Val4565Glu)
c.13217T>A (p.Val4406Glu)
c.13241T>A (p.Val4414Glu)
c.13295T>A (p.Val4432Glu)
c.13187T>A (p.Val4396Glu)
c.13364T>A (p.Val4455Glu)
c.13352T>A (p.Val4451Glu)
c.13709T>A (p.Val4570Glu)
c.13310T>A (p.Val4437Glu)
c.13298T>A (p.Val4433Glu)
c.13256T>A (p.Val4419Glu)
c.13232T>A (p.Val4411Glu)
c.13202T>A (p.Val4401Glu)
c.13379T>A (p.Val4460Glu)
c.13229T>A (p.Val4410Glu)
c.9929T>A (p.Val3310Glu)
8g.143916539C>ACA372475730PLECc.13414G>T (p.Val4472Leu)
c.13333G>T (p.Val4445Leu)
c.13000G>T (p.Val4334Leu)
c.13213G>T (p.Val4405Leu)
c.13282G>T (p.Val4428Leu)
c.9982G>T (p.Val3328Leu)
c.13693G>T (p.Val4565Leu)
c.13216G>T (p.Val4406Leu)
c.13240G>T (p.Val4414Leu)
c.13294G>T (p.Val4432Leu)
c.13186G>T (p.Val4396Leu)
c.13363G>T (p.Val4455Leu)
c.13351G>T (p.Val4451Leu)
c.13708G>T (p.Val4570Leu)
c.13309G>T (p.Val4437Leu)
c.13297G>T (p.Val4433Leu)
c.13255G>T (p.Val4419Leu)
c.13231G>T (p.Val4411Leu)
c.13201G>T (p.Val4401Leu)
c.13378G>T (p.Val4460Leu)
c.13228G>T (p.Val4410Leu)
c.9928G>T (p.Val3310Leu)
 dbSNP gnomAD v2
8g.143916539C=CA1826037349PLECc.13414G= (p.Val4472=)
c.13333G= (p.Val4445=)
c.13000G= (p.Val4334=)
c.13213G= (p.Val4405=)
c.13282G= (p.Val4428=)
c.9982G= (p.Val3328=)
c.13693G= (p.Val4565=)
c.13216G= (p.Val4406=)
c.13240G= (p.Val4414=)
c.13294G= (p.Val4432=)
c.13186G= (p.Val4396=)
c.13363G= (p.Val4455=)
c.13351G= (p.Val4451=)
c.13708G= (p.Val4570=)
c.13309G= (p.Val4437=)
c.13297G= (p.Val4433=)
c.13255G= (p.Val4419=)
c.13231G= (p.Val4411=)
c.13201G= (p.Val4401=)
c.13378G= (p.Val4460=)
c.13228G= (p.Val4410=)
c.9928G= (p.Val3310=)
8g.143916539C>GCA372475731PLECc.13414G>C (p.Val4472Leu)
c.13333G>C (p.Val4445Leu)
c.13000G>C (p.Val4334Leu)
c.13213G>C (p.Val4405Leu)
c.13282G>C (p.Val4428Leu)
c.9982G>C (p.Val3328Leu)
c.13693G>C (p.Val4565Leu)
c.13216G>C (p.Val4406Leu)
c.13240G>C (p.Val4414Leu)
c.13294G>C (p.Val4432Leu)
c.13186G>C (p.Val4396Leu)
c.13363G>C (p.Val4455Leu)
c.13351G>C (p.Val4451Leu)
c.13708G>C (p.Val4570Leu)
c.13309G>C (p.Val4437Leu)
c.13297G>C (p.Val4433Leu)
c.13255G>C (p.Val4419Leu)
c.13231G>C (p.Val4411Leu)
c.13201G>C (p.Val4401Leu)
c.13378G>C (p.Val4460Leu)
c.13228G>C (p.Val4410Leu)
c.9928G>C (p.Val3310Leu)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916539C>TCA4923852PLECc.13414G>A (p.Val4472Met)
c.13333G>A (p.Val4445Met)
c.13000G>A (p.Val4334Met)
c.13213G>A (p.Val4405Met)
c.13282G>A (p.Val4428Met)
c.9982G>A (p.Val3328Met)
c.13693G>A (p.Val4565Met)
c.13216G>A (p.Val4406Met)
c.13240G>A (p.Val4414Met)
c.13294G>A (p.Val4432Met)
c.13186G>A (p.Val4396Met)
c.13363G>A (p.Val4455Met)
c.13351G>A (p.Val4451Met)
c.13708G>A (p.Val4570Met)
c.13309G>A (p.Val4437Met)
c.13297G>A (p.Val4433Met)
c.13255G>A (p.Val4419Met)
c.13231G>A (p.Val4411Met)
c.13201G>A (p.Val4401Met)
c.13378G>A (p.Val4460Met)
c.13228G>A (p.Val4410Met)
c.9928G>A (p.Val3310Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916540G>ACA4923853PLECc.13413C>T (p.Asp4471=)
c.13332C>T (p.Asp4444=)
c.12999C>T (p.Asp4333=)
c.13212C>T (p.Asp4404=)
c.13281C>T (p.Asp4427=)
c.9981C>T (p.Asp3327=)
c.13692C>T (p.Asp4564=)
c.13215C>T (p.Asp4405=)
c.13239C>T (p.Asp4413=)
c.13293C>T (p.Asp4431=)
c.13185C>T (p.Asp4395=)
c.13362C>T (p.Asp4454=)
c.13350C>T (p.Asp4450=)
c.13707C>T (p.Asp4569=)
c.13308C>T (p.Asp4436=)
c.13296C>T (p.Asp4432=)
c.13254C>T (p.Asp4418=)
c.13230C>T (p.Asp4410=)
c.13200C>T (p.Asp4400=)
c.13377C>T (p.Asp4459=)
c.13227C>T (p.Asp4409=)
c.9927C>T (p.Asp3309=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916540G>CCA372475732PLECc.13413C>G (p.Asp4471Glu)
c.13332C>G (p.Asp4444Glu)
c.12999C>G (p.Asp4333Glu)
c.13212C>G (p.Asp4404Glu)
c.13281C>G (p.Asp4427Glu)
c.9981C>G (p.Asp3327Glu)
c.13692C>G (p.Asp4564Glu)
c.13215C>G (p.Asp4405Glu)
c.13239C>G (p.Asp4413Glu)
c.13293C>G (p.Asp4431Glu)
c.13185C>G (p.Asp4395Glu)
c.13362C>G (p.Asp4454Glu)
c.13350C>G (p.Asp4450Glu)
c.13707C>G (p.Asp4569Glu)
c.13308C>G (p.Asp4436Glu)
c.13296C>G (p.Asp4432Glu)
c.13254C>G (p.Asp4418Glu)
c.13230C>G (p.Asp4410Glu)
c.13200C>G (p.Asp4400Glu)
c.13377C>G (p.Asp4459Glu)
c.13227C>G (p.Asp4409Glu)
c.9927C>G (p.Asp3309Glu)
 gnomAD v4
8g.143916540G=CA1826037350PLECc.13413C= (p.Asp4471=)
c.13332C= (p.Asp4444=)
c.12999C= (p.Asp4333=)
c.13212C= (p.Asp4404=)
c.13281C= (p.Asp4427=)
c.9981C= (p.Asp3327=)
c.13692C= (p.Asp4564=)
c.13215C= (p.Asp4405=)
c.13239C= (p.Asp4413=)
c.13293C= (p.Asp4431=)
c.13185C= (p.Asp4395=)
c.13362C= (p.Asp4454=)
c.13350C= (p.Asp4450=)
c.13707C= (p.Asp4569=)
c.13308C= (p.Asp4436=)
c.13296C= (p.Asp4432=)
c.13254C= (p.Asp4418=)
c.13230C= (p.Asp4410=)
c.13200C= (p.Asp4400=)
c.13377C= (p.Asp4459=)
c.13227C= (p.Asp4409=)
c.9927C= (p.Asp3309=)
8g.143916540G>TCA372475733PLECc.13413C>A (p.Asp4471Glu)
c.13332C>A (p.Asp4444Glu)
c.12999C>A (p.Asp4333Glu)
c.13212C>A (p.Asp4404Glu)
c.13281C>A (p.Asp4427Glu)
c.9981C>A (p.Asp3327Glu)
c.13692C>A (p.Asp4564Glu)
c.13215C>A (p.Asp4405Glu)
c.13239C>A (p.Asp4413Glu)
c.13293C>A (p.Asp4431Glu)
c.13185C>A (p.Asp4395Glu)
c.13362C>A (p.Asp4454Glu)
c.13350C>A (p.Asp4450Glu)
c.13707C>A (p.Asp4569Glu)
c.13308C>A (p.Asp4436Glu)
c.13296C>A (p.Asp4432Glu)
c.13254C>A (p.Asp4418Glu)
c.13230C>A (p.Asp4410Glu)
c.13200C>A (p.Asp4400Glu)
c.13377C>A (p.Asp4459Glu)
c.13227C>A (p.Asp4409Glu)
c.9927C>A (p.Asp3309Glu)
 gnomAD v4
8g.143916541T>ACA372475734PLECc.13412A>T (p.Asp4471Val)
c.13331A>T (p.Asp4444Val)
c.12998A>T (p.Asp4333Val)
c.13211A>T (p.Asp4404Val)
c.13280A>T (p.Asp4427Val)
c.9980A>T (p.Asp3327Val)
c.13691A>T (p.Asp4564Val)
c.13214A>T (p.Asp4405Val)
c.13238A>T (p.Asp4413Val)
c.13292A>T (p.Asp4431Val)
c.13184A>T (p.Asp4395Val)
c.13361A>T (p.Asp4454Val)
c.13349A>T (p.Asp4450Val)
c.13706A>T (p.Asp4569Val)
c.13307A>T (p.Asp4436Val)
c.13295A>T (p.Asp4432Val)
c.13253A>T (p.Asp4418Val)
c.13229A>T (p.Asp4410Val)
c.13199A>T (p.Asp4400Val)
c.13376A>T (p.Asp4459Val)
c.13226A>T (p.Asp4409Val)
c.9926A>T (p.Asp3309Val)
8g.143916541T>CCA372475736PLECc.13412A>G (p.Asp4471Gly)
c.13331A>G (p.Asp4444Gly)
c.12998A>G (p.Asp4333Gly)
c.13211A>G (p.Asp4404Gly)
c.13280A>G (p.Asp4427Gly)
c.9980A>G (p.Asp3327Gly)
c.13691A>G (p.Asp4564Gly)
c.13214A>G (p.Asp4405Gly)
c.13238A>G (p.Asp4413Gly)
c.13292A>G (p.Asp4431Gly)
c.13184A>G (p.Asp4395Gly)
c.13361A>G (p.Asp4454Gly)
c.13349A>G (p.Asp4450Gly)
c.13706A>G (p.Asp4569Gly)
c.13307A>G (p.Asp4436Gly)
c.13295A>G (p.Asp4432Gly)
c.13253A>G (p.Asp4418Gly)
c.13229A>G (p.Asp4410Gly)
c.13199A>G (p.Asp4400Gly)
c.13376A>G (p.Asp4459Gly)
c.13226A>G (p.Asp4409Gly)
c.9926A>G (p.Asp3309Gly)
 gnomAD v4
8g.143916541T>GCA372475735PLECc.13412A>C (p.Asp4471Ala)
c.13331A>C (p.Asp4444Ala)
c.12998A>C (p.Asp4333Ala)
c.13211A>C (p.Asp4404Ala)
c.13280A>C (p.Asp4427Ala)
c.9980A>C (p.Asp3327Ala)
c.13691A>C (p.Asp4564Ala)
c.13214A>C (p.Asp4405Ala)
c.13238A>C (p.Asp4413Ala)
c.13292A>C (p.Asp4431Ala)
c.13184A>C (p.Asp4395Ala)
c.13361A>C (p.Asp4454Ala)
c.13349A>C (p.Asp4450Ala)
c.13706A>C (p.Asp4569Ala)
c.13307A>C (p.Asp4436Ala)
c.13295A>C (p.Asp4432Ala)
c.13253A>C (p.Asp4418Ala)
c.13229A>C (p.Asp4410Ala)
c.13199A>C (p.Asp4400Ala)
c.13376A>C (p.Asp4459Ala)
c.13226A>C (p.Asp4409Ala)
c.9926A>C (p.Asp3309Ala)
8g.143916542C>ACA372475737PLECc.13411G>T (p.Asp4471Tyr)
c.13330G>T (p.Asp4444Tyr)
c.12997G>T (p.Asp4333Tyr)
c.13210G>T (p.Asp4404Tyr)
c.13279G>T (p.Asp4427Tyr)
c.9979G>T (p.Asp3327Tyr)
c.13690G>T (p.Asp4564Tyr)
c.13213G>T (p.Asp4405Tyr)
c.13237G>T (p.Asp4413Tyr)
c.13291G>T (p.Asp4431Tyr)
c.13183G>T (p.Asp4395Tyr)
c.13360G>T (p.Asp4454Tyr)
c.13348G>T (p.Asp4450Tyr)
c.13705G>T (p.Asp4569Tyr)
c.13306G>T (p.Asp4436Tyr)
c.13294G>T (p.Asp4432Tyr)
c.13252G>T (p.Asp4418Tyr)
c.13228G>T (p.Asp4410Tyr)
c.13198G>T (p.Asp4400Tyr)
c.13375G>T (p.Asp4459Tyr)
c.13225G>T (p.Asp4409Tyr)
c.9925G>T (p.Asp3309Tyr)
 gnomAD v4
8g.143916542C>GCA372475738PLECc.13411G>C (p.Asp4471His)
c.13330G>C (p.Asp4444His)
c.12997G>C (p.Asp4333His)
c.13210G>C (p.Asp4404His)
c.13279G>C (p.Asp4427His)
c.9979G>C (p.Asp3327His)
c.13690G>C (p.Asp4564His)
c.13213G>C (p.Asp4405His)
c.13237G>C (p.Asp4413His)
c.13291G>C (p.Asp4431His)
c.13183G>C (p.Asp4395His)
c.13360G>C (p.Asp4454His)
c.13348G>C (p.Asp4450His)
c.13705G>C (p.Asp4569His)
c.13306G>C (p.Asp4436His)
c.13294G>C (p.Asp4432His)
c.13252G>C (p.Asp4418His)
c.13228G>C (p.Asp4410His)
c.13198G>C (p.Asp4400His)
c.13375G>C (p.Asp4459His)
c.13225G>C (p.Asp4409His)
c.9925G>C (p.Asp3309His)
8g.143916542C>TCA372475739PLECc.13411G>A (p.Asp4471Asn)
c.13330G>A (p.Asp4444Asn)
c.12997G>A (p.Asp4333Asn)
c.13210G>A (p.Asp4404Asn)
c.13279G>A (p.Asp4427Asn)
c.9979G>A (p.Asp3327Asn)
c.13690G>A (p.Asp4564Asn)
c.13213G>A (p.Asp4405Asn)
c.13237G>A (p.Asp4413Asn)
c.13291G>A (p.Asp4431Asn)
c.13183G>A (p.Asp4395Asn)
c.13360G>A (p.Asp4454Asn)
c.13348G>A (p.Asp4450Asn)
c.13705G>A (p.Asp4569Asn)
c.13306G>A (p.Asp4436Asn)
c.13294G>A (p.Asp4432Asn)
c.13252G>A (p.Asp4418Asn)
c.13228G>A (p.Asp4410Asn)
c.13198G>A (p.Asp4400Asn)
c.13375G>A (p.Asp4459Asn)
c.13225G>A (p.Asp4409Asn)
c.9925G>A (p.Asp3309Asn)
8g.143916543A>CCA463525677PLECc.13410T>G (p.Arg4470=)
c.13329T>G (p.Arg4443=)
c.12996T>G (p.Arg4332=)
c.13209T>G (p.Arg4403=)
c.13278T>G (p.Arg4426=)
c.9978T>G (p.Arg3326=)
c.13689T>G (p.Arg4563=)
c.13212T>G (p.Arg4404=)
c.13236T>G (p.Arg4412=)
c.13290T>G (p.Arg4430=)
c.13182T>G (p.Arg4394=)
c.13359T>G (p.Arg4453=)
c.13347T>G (p.Arg4449=)
c.13704T>G (p.Arg4568=)
c.13305T>G (p.Arg4435=)
c.13293T>G (p.Arg4431=)
c.13251T>G (p.Arg4417=)
c.13227T>G (p.Arg4409=)
c.13197T>G (p.Arg4399=)
c.13374T>G (p.Arg4458=)
c.13224T>G (p.Arg4408=)
c.9924T>G (p.Arg3308=)
8g.143916543A>GCA463525678PLECc.13410T>C (p.Arg4470=)
c.13329T>C (p.Arg4443=)
c.12996T>C (p.Arg4332=)
c.13209T>C (p.Arg4403=)
c.13278T>C (p.Arg4426=)
c.9978T>C (p.Arg3326=)
c.13689T>C (p.Arg4563=)
c.13212T>C (p.Arg4404=)
c.13236T>C (p.Arg4412=)
c.13290T>C (p.Arg4430=)
c.13182T>C (p.Arg4394=)
c.13359T>C (p.Arg4453=)
c.13347T>C (p.Arg4449=)
c.13704T>C (p.Arg4568=)
c.13305T>C (p.Arg4435=)
c.13293T>C (p.Arg4431=)
c.13251T>C (p.Arg4417=)
c.13227T>C (p.Arg4409=)
c.13197T>C (p.Arg4399=)
c.13374T>C (p.Arg4458=)
c.13224T>C (p.Arg4408=)
c.9924T>C (p.Arg3308=)
8g.143916543A>TCA463525679PLECc.13410T>A (p.Arg4470=)
c.13329T>A (p.Arg4443=)
c.12996T>A (p.Arg4332=)
c.13209T>A (p.Arg4403=)
c.13278T>A (p.Arg4426=)
c.9978T>A (p.Arg3326=)
c.13689T>A (p.Arg4563=)
c.13212T>A (p.Arg4404=)
c.13236T>A (p.Arg4412=)
c.13290T>A (p.Arg4430=)
c.13182T>A (p.Arg4394=)
c.13359T>A (p.Arg4453=)
c.13347T>A (p.Arg4449=)
c.13704T>A (p.Arg4568=)
c.13305T>A (p.Arg4435=)
c.13293T>A (p.Arg4431=)
c.13251T>A (p.Arg4417=)
c.13227T>A (p.Arg4409=)
c.13197T>A (p.Arg4399=)
c.13374T>A (p.Arg4458=)
c.13224T>A (p.Arg4408=)
c.9924T>A (p.Arg3308=)
8g.143916544C>ACA372475740PLECc.13409G>T (p.Arg4470Leu)
c.13328G>T (p.Arg4443Leu)
c.12995G>T (p.Arg4332Leu)
c.13208G>T (p.Arg4403Leu)
c.13277G>T (p.Arg4426Leu)
c.9977G>T (p.Arg3326Leu)
c.13688G>T (p.Arg4563Leu)
c.13211G>T (p.Arg4404Leu)
c.13235G>T (p.Arg4412Leu)
c.13289G>T (p.Arg4430Leu)
c.13181G>T (p.Arg4394Leu)
c.13358G>T (p.Arg4453Leu)
c.13346G>T (p.Arg4449Leu)
c.13703G>T (p.Arg4568Leu)
c.13304G>T (p.Arg4435Leu)
c.13292G>T (p.Arg4431Leu)
c.13250G>T (p.Arg4417Leu)
c.13226G>T (p.Arg4409Leu)
c.13196G>T (p.Arg4399Leu)
c.13373G>T (p.Arg4458Leu)
c.13223G>T (p.Arg4408Leu)
c.9923G>T (p.Arg3308Leu)
8g.143916544C=CA1826037353PLECc.13409G= (p.Arg4470=)
c.13328G= (p.Arg4443=)
c.12995G= (p.Arg4332=)
c.13208G= (p.Arg4403=)
c.13277G= (p.Arg4426=)
c.9977G= (p.Arg3326=)
c.13688G= (p.Arg4563=)
c.13211G= (p.Arg4404=)
c.13235G= (p.Arg4412=)
c.13289G= (p.Arg4430=)
c.13181G= (p.Arg4394=)
c.13358G= (p.Arg4453=)
c.13346G= (p.Arg4449=)
c.13703G= (p.Arg4568=)
c.13304G= (p.Arg4435=)
c.13292G= (p.Arg4431=)
c.13250G= (p.Arg4417=)
c.13226G= (p.Arg4409=)
c.13196G= (p.Arg4399=)
c.13373G= (p.Arg4458=)
c.13223G= (p.Arg4408=)
c.9923G= (p.Arg3308=)
8g.143916544C>GCA372475741PLECc.13409G>C (p.Arg4470Pro)
c.13328G>C (p.Arg4443Pro)
c.12995G>C (p.Arg4332Pro)
c.13208G>C (p.Arg4403Pro)
c.13277G>C (p.Arg4426Pro)
c.9977G>C (p.Arg3326Pro)
c.13688G>C (p.Arg4563Pro)
c.13211G>C (p.Arg4404Pro)
c.13235G>C (p.Arg4412Pro)
c.13289G>C (p.Arg4430Pro)
c.13181G>C (p.Arg4394Pro)
c.13358G>C (p.Arg4453Pro)
c.13346G>C (p.Arg4449Pro)
c.13703G>C (p.Arg4568Pro)
c.13304G>C (p.Arg4435Pro)
c.13292G>C (p.Arg4431Pro)
c.13250G>C (p.Arg4417Pro)
c.13226G>C (p.Arg4409Pro)
c.13196G>C (p.Arg4399Pro)
c.13373G>C (p.Arg4458Pro)
c.13223G>C (p.Arg4408Pro)
c.9923G>C (p.Arg3308Pro)
8g.143916544C>TCA4923854PLECc.13409G>A (p.Arg4470His)
c.13328G>A (p.Arg4443His)
c.12995G>A (p.Arg4332His)
c.13208G>A (p.Arg4403His)
c.13277G>A (p.Arg4426His)
c.9977G>A (p.Arg3326His)
c.13688G>A (p.Arg4563His)
c.13211G>A (p.Arg4404His)
c.13235G>A (p.Arg4412His)
c.13289G>A (p.Arg4430His)
c.13181G>A (p.Arg4394His)
c.13358G>A (p.Arg4453His)
c.13346G>A (p.Arg4449His)
c.13703G>A (p.Arg4568His)
c.13304G>A (p.Arg4435His)
c.13292G>A (p.Arg4431His)
c.13250G>A (p.Arg4417His)
c.13226G>A (p.Arg4409His)
c.13196G>A (p.Arg4399His)
c.13373G>A (p.Arg4458His)
c.13223G>A (p.Arg4408His)
c.9923G>A (p.Arg3308His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916545G>ACA4923855PLECc.13408C>T (p.Arg4470Cys)
c.13327C>T (p.Arg4443Cys)
c.12994C>T (p.Arg4332Cys)
c.13207C>T (p.Arg4403Cys)
c.13276C>T (p.Arg4426Cys)
c.9976C>T (p.Arg3326Cys)
c.13687C>T (p.Arg4563Cys)
c.13210C>T (p.Arg4404Cys)
c.13234C>T (p.Arg4412Cys)
c.13288C>T (p.Arg4430Cys)
c.13180C>T (p.Arg4394Cys)
c.13357C>T (p.Arg4453Cys)
c.13345C>T (p.Arg4449Cys)
c.13702C>T (p.Arg4568Cys)
c.13303C>T (p.Arg4435Cys)
c.13291C>T (p.Arg4431Cys)
c.13249C>T (p.Arg4417Cys)
c.13225C>T (p.Arg4409Cys)
c.13195C>T (p.Arg4399Cys)
c.13372C>T (p.Arg4458Cys)
c.13222C>T (p.Arg4408Cys)
c.9922C>T (p.Arg3308Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916545G>CCA372475742PLECc.13408C>G (p.Arg4470Gly)
c.13327C>G (p.Arg4443Gly)
c.12994C>G (p.Arg4332Gly)
c.13207C>G (p.Arg4403Gly)
c.13276C>G (p.Arg4426Gly)
c.9976C>G (p.Arg3326Gly)
c.13687C>G (p.Arg4563Gly)
c.13210C>G (p.Arg4404Gly)
c.13234C>G (p.Arg4412Gly)
c.13288C>G (p.Arg4430Gly)
c.13180C>G (p.Arg4394Gly)
c.13357C>G (p.Arg4453Gly)
c.13345C>G (p.Arg4449Gly)
c.13702C>G (p.Arg4568Gly)
c.13303C>G (p.Arg4435Gly)
c.13291C>G (p.Arg4431Gly)
c.13249C>G (p.Arg4417Gly)
c.13225C>G (p.Arg4409Gly)
c.13195C>G (p.Arg4399Gly)
c.13372C>G (p.Arg4458Gly)
c.13222C>G (p.Arg4408Gly)
c.9922C>G (p.Arg3308Gly)
8g.143916545G=CA1826037361PLECc.13408C= (p.Arg4470=)
c.13327C= (p.Arg4443=)
c.12994C= (p.Arg4332=)
c.13207C= (p.Arg4403=)
c.13276C= (p.Arg4426=)
c.9976C= (p.Arg3326=)
c.13687C= (p.Arg4563=)
c.13210C= (p.Arg4404=)
c.13234C= (p.Arg4412=)
c.13288C= (p.Arg4430=)
c.13180C= (p.Arg4394=)
c.13357C= (p.Arg4453=)
c.13345C= (p.Arg4449=)
c.13702C= (p.Arg4568=)
c.13303C= (p.Arg4435=)
c.13291C= (p.Arg4431=)
c.13249C= (p.Arg4417=)
c.13225C= (p.Arg4409=)
c.13195C= (p.Arg4399=)
c.13372C= (p.Arg4458=)
c.13222C= (p.Arg4408=)
c.9922C= (p.Arg3308=)
8g.143916545G>TCA372475743PLECc.13408C>A (p.Arg4470Ser)
c.13327C>A (p.Arg4443Ser)
c.12994C>A (p.Arg4332Ser)
c.13207C>A (p.Arg4403Ser)
c.13276C>A (p.Arg4426Ser)
c.9976C>A (p.Arg3326Ser)
c.13687C>A (p.Arg4563Ser)
c.13210C>A (p.Arg4404Ser)
c.13234C>A (p.Arg4412Ser)
c.13288C>A (p.Arg4430Ser)
c.13180C>A (p.Arg4394Ser)
c.13357C>A (p.Arg4453Ser)
c.13345C>A (p.Arg4449Ser)
c.13702C>A (p.Arg4568Ser)
c.13303C>A (p.Arg4435Ser)
c.13291C>A (p.Arg4431Ser)
c.13249C>A (p.Arg4417Ser)
c.13225C>A (p.Arg4409Ser)
c.13195C>A (p.Arg4399Ser)
c.13372C>A (p.Arg4458Ser)
c.13222C>A (p.Arg4408Ser)
c.9922C>A (p.Arg3308Ser)
8g.143916546C>ACA463525680PLECc.13407G>T (p.Leu4469=)
c.13326G>T (p.Leu4442=)
c.12993G>T (p.Leu4331=)
c.13206G>T (p.Leu4402=)
c.13275G>T (p.Leu4425=)
c.9975G>T (p.Leu3325=)
c.13686G>T (p.Leu4562=)
c.13209G>T (p.Leu4403=)
c.13233G>T (p.Leu4411=)
c.13287G>T (p.Leu4429=)
c.13179G>T (p.Leu4393=)
c.13356G>T (p.Leu4452=)
c.13344G>T (p.Leu4448=)
c.13701G>T (p.Leu4567=)
c.13302G>T (p.Leu4434=)
c.13290G>T (p.Leu4430=)
c.13248G>T (p.Leu4416=)
c.13224G>T (p.Leu4408=)
c.13194G>T (p.Leu4398=)
c.13371G>T (p.Leu4457=)
c.13221G>T (p.Leu4407=)
c.9921G>T (p.Leu3307=)
8g.143916546C>GCA463525681PLECc.13407G>C (p.Leu4469=)
c.13326G>C (p.Leu4442=)
c.12993G>C (p.Leu4331=)
c.13206G>C (p.Leu4402=)
c.13275G>C (p.Leu4425=)
c.9975G>C (p.Leu3325=)
c.13686G>C (p.Leu4562=)
c.13209G>C (p.Leu4403=)
c.13233G>C (p.Leu4411=)
c.13287G>C (p.Leu4429=)
c.13179G>C (p.Leu4393=)
c.13356G>C (p.Leu4452=)
c.13344G>C (p.Leu4448=)
c.13701G>C (p.Leu4567=)
c.13302G>C (p.Leu4434=)
c.13290G>C (p.Leu4430=)
c.13248G>C (p.Leu4416=)
c.13224G>C (p.Leu4408=)
c.13194G>C (p.Leu4398=)
c.13371G>C (p.Leu4457=)
c.13221G>C (p.Leu4407=)
c.9921G>C (p.Leu3307=)
8g.143916546C>TCA463525682PLECc.13407G>A (p.Leu4469=)
c.13326G>A (p.Leu4442=)
c.12993G>A (p.Leu4331=)
c.13206G>A (p.Leu4402=)
c.13275G>A (p.Leu4425=)
c.9975G>A (p.Leu3325=)
c.13686G>A (p.Leu4562=)
c.13209G>A (p.Leu4403=)
c.13233G>A (p.Leu4411=)
c.13287G>A (p.Leu4429=)
c.13179G>A (p.Leu4393=)
c.13356G>A (p.Leu4452=)
c.13344G>A (p.Leu4448=)
c.13701G>A (p.Leu4567=)
c.13302G>A (p.Leu4434=)
c.13290G>A (p.Leu4430=)
c.13248G>A (p.Leu4416=)
c.13224G>A (p.Leu4408=)
c.13194G>A (p.Leu4398=)
c.13371G>A (p.Leu4457=)
c.13221G>A (p.Leu4407=)
c.9921G>A (p.Leu3307=)
 gnomAD v4
8g.143916547A>CCA372475744PLECc.13406T>G (p.Leu4469Arg)
c.13325T>G (p.Leu4442Arg)
c.12992T>G (p.Leu4331Arg)
c.13205T>G (p.Leu4402Arg)
c.13274T>G (p.Leu4425Arg)
c.9974T>G (p.Leu3325Arg)
c.13685T>G (p.Leu4562Arg)
c.13208T>G (p.Leu4403Arg)
c.13232T>G (p.Leu4411Arg)
c.13286T>G (p.Leu4429Arg)
c.13178T>G (p.Leu4393Arg)
c.13355T>G (p.Leu4452Arg)
c.13343T>G (p.Leu4448Arg)
c.13700T>G (p.Leu4567Arg)
c.13301T>G (p.Leu4434Arg)
c.13289T>G (p.Leu4430Arg)
c.13247T>G (p.Leu4416Arg)
c.13223T>G (p.Leu4408Arg)
c.13193T>G (p.Leu4398Arg)
c.13370T>G (p.Leu4457Arg)
c.13220T>G (p.Leu4407Arg)
c.9920T>G (p.Leu3307Arg)
8g.143916547A>GCA372475745PLECc.13406T>C (p.Leu4469Pro)
c.13325T>C (p.Leu4442Pro)
c.12992T>C (p.Leu4331Pro)
c.13205T>C (p.Leu4402Pro)
c.13274T>C (p.Leu4425Pro)
c.9974T>C (p.Leu3325Pro)
c.13685T>C (p.Leu4562Pro)
c.13208T>C (p.Leu4403Pro)
c.13232T>C (p.Leu4411Pro)
c.13286T>C (p.Leu4429Pro)
c.13178T>C (p.Leu4393Pro)
c.13355T>C (p.Leu4452Pro)
c.13343T>C (p.Leu4448Pro)
c.13700T>C (p.Leu4567Pro)
c.13301T>C (p.Leu4434Pro)
c.13289T>C (p.Leu4430Pro)
c.13247T>C (p.Leu4416Pro)
c.13223T>C (p.Leu4408Pro)
c.13193T>C (p.Leu4398Pro)
c.13370T>C (p.Leu4457Pro)
c.13220T>C (p.Leu4407Pro)
c.9920T>C (p.Leu3307Pro)
8g.143916547A>TCA372475746PLECc.13406T>A (p.Leu4469Gln)
c.13325T>A (p.Leu4442Gln)
c.12992T>A (p.Leu4331Gln)
c.13205T>A (p.Leu4402Gln)
c.13274T>A (p.Leu4425Gln)
c.9974T>A (p.Leu3325Gln)
c.13685T>A (p.Leu4562Gln)
c.13208T>A (p.Leu4403Gln)
c.13232T>A (p.Leu4411Gln)
c.13286T>A (p.Leu4429Gln)
c.13178T>A (p.Leu4393Gln)
c.13355T>A (p.Leu4452Gln)
c.13343T>A (p.Leu4448Gln)
c.13700T>A (p.Leu4567Gln)
c.13301T>A (p.Leu4434Gln)
c.13289T>A (p.Leu4430Gln)
c.13247T>A (p.Leu4416Gln)
c.13223T>A (p.Leu4408Gln)
c.13193T>A (p.Leu4398Gln)
c.13370T>A (p.Leu4457Gln)
c.13220T>A (p.Leu4407Gln)
c.9920T>A (p.Leu3307Gln)
8g.143916548G>ACA463525683PLECc.13405C>T (p.Leu4469=)
c.13324C>T (p.Leu4442=)
c.12991C>T (p.Leu4331=)
c.13204C>T (p.Leu4402=)
c.13273C>T (p.Leu4425=)
c.9973C>T (p.Leu3325=)
c.13684C>T (p.Leu4562=)
c.13207C>T (p.Leu4403=)
c.13231C>T (p.Leu4411=)
c.13285C>T (p.Leu4429=)
c.13177C>T (p.Leu4393=)
c.13354C>T (p.Leu4452=)
c.13342C>T (p.Leu4448=)
c.13699C>T (p.Leu4567=)
c.13300C>T (p.Leu4434=)
c.13288C>T (p.Leu4430=)
c.13246C>T (p.Leu4416=)
c.13222C>T (p.Leu4408=)
c.13192C>T (p.Leu4398=)
c.13369C>T (p.Leu4457=)
c.13219C>T (p.Leu4407=)
c.9919C>T (p.Leu3307=)
8g.143916548G>CCA372475747PLECc.13405C>G (p.Leu4469Val)
c.13324C>G (p.Leu4442Val)
c.12991C>G (p.Leu4331Val)
c.13204C>G (p.Leu4402Val)
c.13273C>G (p.Leu4425Val)
c.9973C>G (p.Leu3325Val)
c.13684C>G (p.Leu4562Val)
c.13207C>G (p.Leu4403Val)
c.13231C>G (p.Leu4411Val)
c.13285C>G (p.Leu4429Val)
c.13177C>G (p.Leu4393Val)
c.13354C>G (p.Leu4452Val)
c.13342C>G (p.Leu4448Val)
c.13699C>G (p.Leu4567Val)
c.13300C>G (p.Leu4434Val)
c.13288C>G (p.Leu4430Val)
c.13246C>G (p.Leu4416Val)
c.13222C>G (p.Leu4408Val)
c.13192C>G (p.Leu4398Val)
c.13369C>G (p.Leu4457Val)
c.13219C>G (p.Leu4407Val)
c.9919C>G (p.Leu3307Val)
 ClinVar dbSNP
8g.143916548G=CA1826037363PLECc.13405C= (p.Leu4469=)
c.13324C= (p.Leu4442=)
c.12991C= (p.Leu4331=)
c.13204C= (p.Leu4402=)
c.13273C= (p.Leu4425=)
c.9973C= (p.Leu3325=)
c.13684C= (p.Leu4562=)
c.13207C= (p.Leu4403=)
c.13231C= (p.Leu4411=)
c.13285C= (p.Leu4429=)
c.13177C= (p.Leu4393=)
c.13354C= (p.Leu4452=)
c.13342C= (p.Leu4448=)
c.13699C= (p.Leu4567=)
c.13300C= (p.Leu4434=)
c.13288C= (p.Leu4430=)
c.13246C= (p.Leu4416=)
c.13222C= (p.Leu4408=)
c.13192C= (p.Leu4398=)
c.13369C= (p.Leu4457=)
c.13219C= (p.Leu4407=)
c.9919C= (p.Leu3307=)
8g.143916548G>TCA372475748PLECc.13405C>A (p.Leu4469Met)
c.13324C>A (p.Leu4442Met)
c.12991C>A (p.Leu4331Met)
c.13204C>A (p.Leu4402Met)
c.13273C>A (p.Leu4425Met)
c.9973C>A (p.Leu3325Met)
c.13684C>A (p.Leu4562Met)
c.13207C>A (p.Leu4403Met)
c.13231C>A (p.Leu4411Met)
c.13285C>A (p.Leu4429Met)
c.13177C>A (p.Leu4393Met)
c.13354C>A (p.Leu4452Met)
c.13342C>A (p.Leu4448Met)
c.13699C>A (p.Leu4567Met)
c.13300C>A (p.Leu4434Met)
c.13288C>A (p.Leu4430Met)
c.13246C>A (p.Leu4416Met)
c.13222C>A (p.Leu4408Met)
c.13192C>A (p.Leu4398Met)
c.13369C>A (p.Leu4457Met)
c.13219C>A (p.Leu4407Met)
c.9919C>A (p.Leu3307Met)
 dbSNP
8g.143916549C>ACA372475749PLECc.13404G>T (p.Lys4468Asn)
c.13323G>T (p.Lys4441Asn)
c.12990G>T (p.Lys4330Asn)
c.13203G>T (p.Lys4401Asn)
c.13272G>T (p.Lys4424Asn)
c.9972G>T (p.Lys3324Asn)
c.13683G>T (p.Lys4561Asn)
c.13206G>T (p.Lys4402Asn)
c.13230G>T (p.Lys4410Asn)
c.13284G>T (p.Lys4428Asn)
c.13176G>T (p.Lys4392Asn)
c.13353G>T (p.Lys4451Asn)
c.13341G>T (p.Lys4447Asn)
c.13698G>T (p.Lys4566Asn)
c.13299G>T (p.Lys4433Asn)
c.13287G>T (p.Lys4429Asn)
c.13245G>T (p.Lys4415Asn)
c.13221G>T (p.Lys4407Asn)
c.13191G>T (p.Lys4397Asn)
c.13368G>T (p.Lys4456Asn)
c.13218G>T (p.Lys4406Asn)
c.9918G>T (p.Lys3306Asn)
8g.143916549C=CA1826037367PLECc.13404G= (p.Lys4468=)
c.13323G= (p.Lys4441=)
c.12990G= (p.Lys4330=)
c.13203G= (p.Lys4401=)
c.13272G= (p.Lys4424=)
c.9972G= (p.Lys3324=)
c.13683G= (p.Lys4561=)
c.13206G= (p.Lys4402=)
c.13230G= (p.Lys4410=)
c.13284G= (p.Lys4428=)
c.13176G= (p.Lys4392=)
c.13353G= (p.Lys4451=)
c.13341G= (p.Lys4447=)
c.13698G= (p.Lys4566=)
c.13299G= (p.Lys4433=)
c.13287G= (p.Lys4429=)
c.13245G= (p.Lys4415=)
c.13221G= (p.Lys4407=)
c.13191G= (p.Lys4397=)
c.13368G= (p.Lys4456=)
c.13218G= (p.Lys4406=)
c.9918G= (p.Lys3306=)
8g.143916549C>GCA372475750PLECc.13404G>C (p.Lys4468Asn)
c.13323G>C (p.Lys4441Asn)
c.12990G>C (p.Lys4330Asn)
c.13203G>C (p.Lys4401Asn)
c.13272G>C (p.Lys4424Asn)
c.9972G>C (p.Lys3324Asn)
c.13683G>C (p.Lys4561Asn)
c.13206G>C (p.Lys4402Asn)
c.13230G>C (p.Lys4410Asn)
c.13284G>C (p.Lys4428Asn)
c.13176G>C (p.Lys4392Asn)
c.13353G>C (p.Lys4451Asn)
c.13341G>C (p.Lys4447Asn)
c.13698G>C (p.Lys4566Asn)
c.13299G>C (p.Lys4433Asn)
c.13287G>C (p.Lys4429Asn)
c.13245G>C (p.Lys4415Asn)
c.13221G>C (p.Lys4407Asn)
c.13191G>C (p.Lys4397Asn)
c.13368G>C (p.Lys4456Asn)
c.13218G>C (p.Lys4406Asn)
c.9918G>C (p.Lys3306Asn)
8g.143916549C>TCA4923856PLECc.13404G>A (p.Lys4468=)
c.13323G>A (p.Lys4441=)
c.12990G>A (p.Lys4330=)
c.13203G>A (p.Lys4401=)
c.13272G>A (p.Lys4424=)
c.9972G>A (p.Lys3324=)
c.13683G>A (p.Lys4561=)
c.13206G>A (p.Lys4402=)
c.13230G>A (p.Lys4410=)
c.13284G>A (p.Lys4428=)
c.13176G>A (p.Lys4392=)
c.13353G>A (p.Lys4451=)
c.13341G>A (p.Lys4447=)
c.13698G>A (p.Lys4566=)
c.13299G>A (p.Lys4433=)
c.13287G>A (p.Lys4429=)
c.13245G>A (p.Lys4415=)
c.13221G>A (p.Lys4407=)
c.13191G>A (p.Lys4397=)
c.13368G>A (p.Lys4456=)
c.13218G>A (p.Lys4406=)
c.9918G>A (p.Lys3306=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916550T>ACA372475751PLECc.13403A>T (p.Lys4468Met)
c.13322A>T (p.Lys4441Met)
c.12989A>T (p.Lys4330Met)
c.13202A>T (p.Lys4401Met)
c.13271A>T (p.Lys4424Met)
c.9971A>T (p.Lys3324Met)
c.13682A>T (p.Lys4561Met)
c.13205A>T (p.Lys4402Met)
c.13229A>T (p.Lys4410Met)
c.13283A>T (p.Lys4428Met)
c.13175A>T (p.Lys4392Met)
c.13352A>T (p.Lys4451Met)
c.13340A>T (p.Lys4447Met)
c.13697A>T (p.Lys4566Met)
c.13298A>T (p.Lys4433Met)
c.13286A>T (p.Lys4429Met)
c.13244A>T (p.Lys4415Met)
c.13220A>T (p.Lys4407Met)
c.13190A>T (p.Lys4397Met)
c.13367A>T (p.Lys4456Met)
c.13217A>T (p.Lys4406Met)
c.9917A>T (p.Lys3306Met)
8g.143916550T>CCA372475753PLECc.13403A>G (p.Lys4468Arg)
c.13322A>G (p.Lys4441Arg)
c.12989A>G (p.Lys4330Arg)
c.13202A>G (p.Lys4401Arg)
c.13271A>G (p.Lys4424Arg)
c.9971A>G (p.Lys3324Arg)
c.13682A>G (p.Lys4561Arg)
c.13205A>G (p.Lys4402Arg)
c.13229A>G (p.Lys4410Arg)
c.13283A>G (p.Lys4428Arg)
c.13175A>G (p.Lys4392Arg)
c.13352A>G (p.Lys4451Arg)
c.13340A>G (p.Lys4447Arg)
c.13697A>G (p.Lys4566Arg)
c.13298A>G (p.Lys4433Arg)
c.13286A>G (p.Lys4429Arg)
c.13244A>G (p.Lys4415Arg)
c.13220A>G (p.Lys4407Arg)
c.13190A>G (p.Lys4397Arg)
c.13367A>G (p.Lys4456Arg)
c.13217A>G (p.Lys4406Arg)
c.9917A>G (p.Lys3306Arg)
 dbSNP gnomAD v4
8g.143916550T>GCA372475755PLECc.13403A>C (p.Lys4468Thr)
c.13322A>C (p.Lys4441Thr)
c.12989A>C (p.Lys4330Thr)
c.13202A>C (p.Lys4401Thr)
c.13271A>C (p.Lys4424Thr)
c.9971A>C (p.Lys3324Thr)
c.13682A>C (p.Lys4561Thr)
c.13205A>C (p.Lys4402Thr)
c.13229A>C (p.Lys4410Thr)
c.13283A>C (p.Lys4428Thr)
c.13175A>C (p.Lys4392Thr)
c.13352A>C (p.Lys4451Thr)
c.13340A>C (p.Lys4447Thr)
c.13697A>C (p.Lys4566Thr)
c.13298A>C (p.Lys4433Thr)
c.13286A>C (p.Lys4429Thr)
c.13244A>C (p.Lys4415Thr)
c.13220A>C (p.Lys4407Thr)
c.13190A>C (p.Lys4397Thr)
c.13367A>C (p.Lys4456Thr)
c.13217A>C (p.Lys4406Thr)
c.9917A>C (p.Lys3306Thr)
8g.143916550T=CA1826037369PLECc.13403A= (p.Lys4468=)
c.13322A= (p.Lys4441=)
c.12989A= (p.Lys4330=)
c.13202A= (p.Lys4401=)
c.13271A= (p.Lys4424=)
c.9971A= (p.Lys3324=)
c.13682A= (p.Lys4561=)
c.13205A= (p.Lys4402=)
c.13229A= (p.Lys4410=)
c.13283A= (p.Lys4428=)
c.13175A= (p.Lys4392=)
c.13352A= (p.Lys4451=)
c.13340A= (p.Lys4447=)
c.13697A= (p.Lys4566=)
c.13298A= (p.Lys4433=)
c.13286A= (p.Lys4429=)
c.13244A= (p.Lys4415=)
c.13220A= (p.Lys4407=)
c.13190A= (p.Lys4397=)
c.13367A= (p.Lys4456=)
c.13217A= (p.Lys4406=)
c.9917A= (p.Lys3306=)
8g.143916551T>ACA372475756PLECc.13402A>T (p.Lys4468Ter)
c.13321A>T (p.Lys4441Ter)
c.12988A>T (p.Lys4330Ter)
c.13201A>T (p.Lys4401Ter)
c.13270A>T (p.Lys4424Ter)
c.9970A>T (p.Lys3324Ter)
c.13681A>T (p.Lys4561Ter)
c.13204A>T (p.Lys4402Ter)
c.13228A>T (p.Lys4410Ter)
c.13282A>T (p.Lys4428Ter)
c.13174A>T (p.Lys4392Ter)
c.13351A>T (p.Lys4451Ter)
c.13339A>T (p.Lys4447Ter)
c.13696A>T (p.Lys4566Ter)
c.13297A>T (p.Lys4433Ter)
c.13285A>T (p.Lys4429Ter)
c.13243A>T (p.Lys4415Ter)
c.13219A>T (p.Lys4407Ter)
c.13189A>T (p.Lys4397Ter)
c.13366A>T (p.Lys4456Ter)
c.13216A>T (p.Lys4406Ter)
c.9916A>T (p.Lys3306Ter)
8g.143916551T>CCA372475758PLECc.13402A>G (p.Lys4468Glu)
c.13321A>G (p.Lys4441Glu)
c.12988A>G (p.Lys4330Glu)
c.13201A>G (p.Lys4401Glu)
c.13270A>G (p.Lys4424Glu)
c.9970A>G (p.Lys3324Glu)
c.13681A>G (p.Lys4561Glu)
c.13204A>G (p.Lys4402Glu)
c.13228A>G (p.Lys4410Glu)
c.13282A>G (p.Lys4428Glu)
c.13174A>G (p.Lys4392Glu)
c.13351A>G (p.Lys4451Glu)
c.13339A>G (p.Lys4447Glu)
c.13696A>G (p.Lys4566Glu)
c.13297A>G (p.Lys4433Glu)
c.13285A>G (p.Lys4429Glu)
c.13243A>G (p.Lys4415Glu)
c.13219A>G (p.Lys4407Glu)
c.13189A>G (p.Lys4397Glu)
c.13366A>G (p.Lys4456Glu)
c.13216A>G (p.Lys4406Glu)
c.9916A>G (p.Lys3306Glu)
8g.143916551T>GCA372475759PLECc.13402A>C (p.Lys4468Gln)
c.13321A>C (p.Lys4441Gln)
c.12988A>C (p.Lys4330Gln)
c.13201A>C (p.Lys4401Gln)
c.13270A>C (p.Lys4424Gln)
c.9970A>C (p.Lys3324Gln)
c.13681A>C (p.Lys4561Gln)
c.13204A>C (p.Lys4402Gln)
c.13228A>C (p.Lys4410Gln)
c.13282A>C (p.Lys4428Gln)
c.13174A>C (p.Lys4392Gln)
c.13351A>C (p.Lys4451Gln)
c.13339A>C (p.Lys4447Gln)
c.13696A>C (p.Lys4566Gln)
c.13297A>C (p.Lys4433Gln)
c.13285A>C (p.Lys4429Gln)
c.13243A>C (p.Lys4415Gln)
c.13219A>C (p.Lys4407Gln)
c.13189A>C (p.Lys4397Gln)
c.13366A>C (p.Lys4456Gln)
c.13216A>C (p.Lys4406Gln)
c.9916A>C (p.Lys3306Gln)
8g.143916552_143916553delCA645567820PLECc.13401_13402del (p.Lys4468AlafsTer3)
c.13320_13321del (p.Lys4441AlafsTer3)
c.12987_12988del (p.Lys4330AlafsTer3)
c.13200_13201del (p.Lys4401AlafsTer3)
c.13269_13270del (p.Lys4424AlafsTer3)
c.9969_9970del (p.Lys3324AlafsTer3)
c.13680_13681del (p.Lys4561AlafsTer3)
c.13203_13204del (p.Lys4402AlafsTer3)
c.13227_13228del (p.Lys4410AlafsTer3)
c.13281_13282del (p.Lys4428AlafsTer3)
c.13173_13174del (p.Lys4392AlafsTer3)
c.13350_13351del (p.Lys4451AlafsTer3)
c.13338_13339del (p.Lys4447AlafsTer3)
c.13695_13696del (p.Lys4566AlafsTer3)
c.13296_13297del (p.Lys4433AlafsTer3)
c.13284_13285del (p.Lys4429AlafsTer3)
c.13242_13243del (p.Lys4415AlafsTer3)
c.13218_13219del (p.Lys4407AlafsTer3)
c.13188_13189del (p.Lys4397AlafsTer3)
c.13365_13366del (p.Lys4456AlafsTer3)
c.13215_13216del (p.Lys4406AlafsTer3)
c.9915_9916del (p.Lys3306AlafsTer3)
 COSMIC COSMIC
8g.143916552C>ACA372475762PLECc.13401G>T (p.Gln4467His)
c.13320G>T (p.Gln4440His)
c.12987G>T (p.Gln4329His)
c.13200G>T (p.Gln4400His)
c.13269G>T (p.Gln4423His)
c.9969G>T (p.Gln3323His)
c.13680G>T (p.Gln4560His)
c.13203G>T (p.Gln4401His)
c.13227G>T (p.Gln4409His)
c.13281G>T (p.Gln4427His)
c.13173G>T (p.Gln4391His)
c.13350G>T (p.Gln4450His)
c.13338G>T (p.Gln4446His)
c.13695G>T (p.Gln4565His)
c.13296G>T (p.Gln4432His)
c.13284G>T (p.Gln4428His)
c.13242G>T (p.Gln4414His)
c.13218G>T (p.Gln4406His)
c.13188G>T (p.Gln4396His)
c.13365G>T (p.Gln4455His)
c.13215G>T (p.Gln4405His)
c.9915G>T (p.Gln3305His)
8g.143916552C>GCA372475763PLECc.13401G>C (p.Gln4467His)
c.13320G>C (p.Gln4440His)
c.12987G>C (p.Gln4329His)
c.13200G>C (p.Gln4400His)
c.13269G>C (p.Gln4423His)
c.9969G>C (p.Gln3323His)
c.13680G>C (p.Gln4560His)
c.13203G>C (p.Gln4401His)
c.13227G>C (p.Gln4409His)
c.13281G>C (p.Gln4427His)
c.13173G>C (p.Gln4391His)
c.13350G>C (p.Gln4450His)
c.13338G>C (p.Gln4446His)
c.13695G>C (p.Gln4565His)
c.13296G>C (p.Gln4432His)
c.13284G>C (p.Gln4428His)
c.13242G>C (p.Gln4414His)
c.13218G>C (p.Gln4406His)
c.13188G>C (p.Gln4396His)
c.13365G>C (p.Gln4455His)
c.13215G>C (p.Gln4405His)
c.9915G>C (p.Gln3305His)
8g.143916552C>TCA463525684PLECc.13401G>A (p.Gln4467=)
c.13320G>A (p.Gln4440=)
c.12987G>A (p.Gln4329=)
c.13200G>A (p.Gln4400=)
c.13269G>A (p.Gln4423=)
c.9969G>A (p.Gln3323=)
c.13680G>A (p.Gln4560=)
c.13203G>A (p.Gln4401=)
c.13227G>A (p.Gln4409=)
c.13281G>A (p.Gln4427=)
c.13173G>A (p.Gln4391=)
c.13350G>A (p.Gln4450=)
c.13338G>A (p.Gln4446=)
c.13695G>A (p.Gln4565=)
c.13296G>A (p.Gln4432=)
c.13284G>A (p.Gln4428=)
c.13242G>A (p.Gln4414=)
c.13218G>A (p.Gln4406=)
c.13188G>A (p.Gln4396=)
c.13365G>A (p.Gln4455=)
c.13215G>A (p.Gln4405=)
c.9915G>A (p.Gln3305=)
8g.143916553T>ACA372475765PLECc.13400A>T (p.Gln4467Leu)
c.13319A>T (p.Gln4440Leu)
c.12986A>T (p.Gln4329Leu)
c.13199A>T (p.Gln4400Leu)
c.13268A>T (p.Gln4423Leu)
c.9968A>T (p.Gln3323Leu)
c.13679A>T (p.Gln4560Leu)
c.13202A>T (p.Gln4401Leu)
c.13226A>T (p.Gln4409Leu)
c.13280A>T (p.Gln4427Leu)
c.13172A>T (p.Gln4391Leu)
c.13349A>T (p.Gln4450Leu)
c.13337A>T (p.Gln4446Leu)
c.13694A>T (p.Gln4565Leu)
c.13295A>T (p.Gln4432Leu)
c.13283A>T (p.Gln4428Leu)
c.13241A>T (p.Gln4414Leu)
c.13217A>T (p.Gln4406Leu)
c.13187A>T (p.Gln4396Leu)
c.13364A>T (p.Gln4455Leu)
c.13214A>T (p.Gln4405Leu)
c.9914A>T (p.Gln3305Leu)
 gnomAD v4
8g.143916553T>CCA372475767PLECc.13400A>G (p.Gln4467Arg)
c.13319A>G (p.Gln4440Arg)
c.12986A>G (p.Gln4329Arg)
c.13199A>G (p.Gln4400Arg)
c.13268A>G (p.Gln4423Arg)
c.9968A>G (p.Gln3323Arg)
c.13679A>G (p.Gln4560Arg)
c.13202A>G (p.Gln4401Arg)
c.13226A>G (p.Gln4409Arg)
c.13280A>G (p.Gln4427Arg)
c.13172A>G (p.Gln4391Arg)
c.13349A>G (p.Gln4450Arg)
c.13337A>G (p.Gln4446Arg)
c.13694A>G (p.Gln4565Arg)
c.13295A>G (p.Gln4432Arg)
c.13283A>G (p.Gln4428Arg)
c.13241A>G (p.Gln4414Arg)
c.13217A>G (p.Gln4406Arg)
c.13187A>G (p.Gln4396Arg)
c.13364A>G (p.Gln4455Arg)
c.13214A>G (p.Gln4405Arg)
c.9914A>G (p.Gln3305Arg)
 dbSNP
8g.143916553T>GCA372475769PLECc.13400A>C (p.Gln4467Pro)
c.13319A>C (p.Gln4440Pro)
c.12986A>C (p.Gln4329Pro)
c.13199A>C (p.Gln4400Pro)
c.13268A>C (p.Gln4423Pro)
c.9968A>C (p.Gln3323Pro)
c.13679A>C (p.Gln4560Pro)
c.13202A>C (p.Gln4401Pro)
c.13226A>C (p.Gln4409Pro)
c.13280A>C (p.Gln4427Pro)
c.13172A>C (p.Gln4391Pro)
c.13349A>C (p.Gln4450Pro)
c.13337A>C (p.Gln4446Pro)
c.13694A>C (p.Gln4565Pro)
c.13295A>C (p.Gln4432Pro)
c.13283A>C (p.Gln4428Pro)
c.13241A>C (p.Gln4414Pro)
c.13217A>C (p.Gln4406Pro)
c.13187A>C (p.Gln4396Pro)
c.13364A>C (p.Gln4455Pro)
c.13214A>C (p.Gln4405Pro)
c.9914A>C (p.Gln3305Pro)
8g.143916553T=CA1826037370PLECc.13400A= (p.Gln4467=)
c.13319A= (p.Gln4440=)
c.12986A= (p.Gln4329=)
c.13199A= (p.Gln4400=)
c.13268A= (p.Gln4423=)
c.9968A= (p.Gln3323=)
c.13679A= (p.Gln4560=)
c.13202A= (p.Gln4401=)
c.13226A= (p.Gln4409=)
c.13280A= (p.Gln4427=)
c.13172A= (p.Gln4391=)
c.13349A= (p.Gln4450=)
c.13337A= (p.Gln4446=)
c.13694A= (p.Gln4565=)
c.13295A= (p.Gln4432=)
c.13283A= (p.Gln4428=)
c.13241A= (p.Gln4414=)
c.13217A= (p.Gln4406=)
c.13187A= (p.Gln4396=)
c.13364A= (p.Gln4455=)
c.13214A= (p.Gln4405=)
c.9914A= (p.Gln3305=)
8g.143916554G>ACA372475774PLECc.13399C>T (p.Gln4467Ter)
c.13318C>T (p.Gln4440Ter)
c.12985C>T (p.Gln4329Ter)
c.13198C>T (p.Gln4400Ter)
c.13267C>T (p.Gln4423Ter)
c.9967C>T (p.Gln3323Ter)
c.13678C>T (p.Gln4560Ter)
c.13201C>T (p.Gln4401Ter)
c.13225C>T (p.Gln4409Ter)
c.13279C>T (p.Gln4427Ter)
c.13171C>T (p.Gln4391Ter)
c.13348C>T (p.Gln4450Ter)
c.13336C>T (p.Gln4446Ter)
c.13693C>T (p.Gln4565Ter)
c.13294C>T (p.Gln4432Ter)
c.13282C>T (p.Gln4428Ter)
c.13240C>T (p.Gln4414Ter)
c.13216C>T (p.Gln4406Ter)
c.13186C>T (p.Gln4396Ter)
c.13363C>T (p.Gln4455Ter)
c.13213C>T (p.Gln4405Ter)
c.9913C>T (p.Gln3305Ter)
8g.143916554G>CCA372475772PLECc.13399C>G (p.Gln4467Glu)
c.13318C>G (p.Gln4440Glu)
c.12985C>G (p.Gln4329Glu)
c.13198C>G (p.Gln4400Glu)
c.13267C>G (p.Gln4423Glu)
c.9967C>G (p.Gln3323Glu)
c.13678C>G (p.Gln4560Glu)
c.13201C>G (p.Gln4401Glu)
c.13225C>G (p.Gln4409Glu)
c.13279C>G (p.Gln4427Glu)
c.13171C>G (p.Gln4391Glu)
c.13348C>G (p.Gln4450Glu)
c.13336C>G (p.Gln4446Glu)
c.13693C>G (p.Gln4565Glu)
c.13294C>G (p.Gln4432Glu)
c.13282C>G (p.Gln4428Glu)
c.13240C>G (p.Gln4414Glu)
c.13216C>G (p.Gln4406Glu)
c.13186C>G (p.Gln4396Glu)
c.13363C>G (p.Gln4455Glu)
c.13213C>G (p.Gln4405Glu)
c.9913C>G (p.Gln3305Glu)
 dbSNP
8g.143916554G=CA1826037372PLECc.13399C= (p.Gln4467=)
c.13318C= (p.Gln4440=)
c.12985C= (p.Gln4329=)
c.13198C= (p.Gln4400=)
c.13267C= (p.Gln4423=)
c.9967C= (p.Gln3323=)
c.13678C= (p.Gln4560=)
c.13201C= (p.Gln4401=)
c.13225C= (p.Gln4409=)
c.13279C= (p.Gln4427=)
c.13171C= (p.Gln4391=)
c.13348C= (p.Gln4450=)
c.13336C= (p.Gln4446=)
c.13693C= (p.Gln4565=)
c.13294C= (p.Gln4432=)
c.13282C= (p.Gln4428=)
c.13240C= (p.Gln4414=)
c.13216C= (p.Gln4406=)
c.13186C= (p.Gln4396=)
c.13363C= (p.Gln4455=)
c.13213C= (p.Gln4405=)
c.9913C= (p.Gln3305=)
8g.143916554G>TCA372475771PLECc.13399C>A (p.Gln4467Lys)
c.13318C>A (p.Gln4440Lys)
c.12985C>A (p.Gln4329Lys)
c.13198C>A (p.Gln4400Lys)
c.13267C>A (p.Gln4423Lys)
c.9967C>A (p.Gln3323Lys)
c.13678C>A (p.Gln4560Lys)
c.13201C>A (p.Gln4401Lys)
c.13225C>A (p.Gln4409Lys)
c.13279C>A (p.Gln4427Lys)
c.13171C>A (p.Gln4391Lys)
c.13348C>A (p.Gln4450Lys)
c.13336C>A (p.Gln4446Lys)
c.13693C>A (p.Gln4565Lys)
c.13294C>A (p.Gln4432Lys)
c.13282C>A (p.Gln4428Lys)
c.13240C>A (p.Gln4414Lys)
c.13216C>A (p.Gln4406Lys)
c.13186C>A (p.Gln4396Lys)
c.13363C>A (p.Gln4455Lys)
c.13213C>A (p.Gln4405Lys)
c.9913C>A (p.Gln3305Lys)
8g.143916555T>ACA463525685PLECc.13398A>T (p.Ala4466=)
c.13317A>T (p.Ala4439=)
c.12984A>T (p.Ala4328=)
c.13197A>T (p.Ala4399=)
c.13266A>T (p.Ala4422=)
c.9966A>T (p.Ala3322=)
c.13677A>T (p.Ala4559=)
c.13200A>T (p.Ala4400=)
c.13224A>T (p.Ala4408=)
c.13278A>T (p.Ala4426=)
c.13170A>T (p.Ala4390=)
c.13347A>T (p.Ala4449=)
c.13335A>T (p.Ala4445=)
c.13692A>T (p.Ala4564=)
c.13293A>T (p.Ala4431=)
c.13281A>T (p.Ala4427=)
c.13239A>T (p.Ala4413=)
c.13215A>T (p.Ala4405=)
c.13185A>T (p.Ala4395=)
c.13362A>T (p.Ala4454=)
c.13212A>T (p.Ala4404=)
c.9912A>T (p.Ala3304=)
8g.143916555T>CCA4923857PLECc.13398A>G (p.Ala4466=)
c.13317A>G (p.Ala4439=)
c.12984A>G (p.Ala4328=)
c.13197A>G (p.Ala4399=)
c.13266A>G (p.Ala4422=)
c.9966A>G (p.Ala3322=)
c.13677A>G (p.Ala4559=)
c.13200A>G (p.Ala4400=)
c.13224A>G (p.Ala4408=)
c.13278A>G (p.Ala4426=)
c.13170A>G (p.Ala4390=)
c.13347A>G (p.Ala4449=)
c.13335A>G (p.Ala4445=)
c.13692A>G (p.Ala4564=)
c.13293A>G (p.Ala4431=)
c.13281A>G (p.Ala4427=)
c.13239A>G (p.Ala4413=)
c.13215A>G (p.Ala4405=)
c.13185A>G (p.Ala4395=)
c.13362A>G (p.Ala4454=)
c.13212A>G (p.Ala4404=)
c.9912A>G (p.Ala3304=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916555T>GCA463525686PLECc.13398A>C (p.Ala4466=)
c.13317A>C (p.Ala4439=)
c.12984A>C (p.Ala4328=)
c.13197A>C (p.Ala4399=)
c.13266A>C (p.Ala4422=)
c.9966A>C (p.Ala3322=)
c.13677A>C (p.Ala4559=)
c.13200A>C (p.Ala4400=)
c.13224A>C (p.Ala4408=)
c.13278A>C (p.Ala4426=)
c.13170A>C (p.Ala4390=)
c.13347A>C (p.Ala4449=)
c.13335A>C (p.Ala4445=)
c.13692A>C (p.Ala4564=)
c.13293A>C (p.Ala4431=)
c.13281A>C (p.Ala4427=)
c.13239A>C (p.Ala4413=)
c.13215A>C (p.Ala4405=)
c.13185A>C (p.Ala4395=)
c.13362A>C (p.Ala4454=)
c.13212A>C (p.Ala4404=)
c.9912A>C (p.Ala3304=)
 dbSNP
8g.143916555T=CA1826037374PLECc.13398A= (p.Ala4466=)
c.13317A= (p.Ala4439=)
c.12984A= (p.Ala4328=)
c.13197A= (p.Ala4399=)
c.13266A= (p.Ala4422=)
c.9966A= (p.Ala3322=)
c.13677A= (p.Ala4559=)
c.13200A= (p.Ala4400=)
c.13224A= (p.Ala4408=)
c.13278A= (p.Ala4426=)
c.13170A= (p.Ala4390=)
c.13347A= (p.Ala4449=)
c.13335A= (p.Ala4445=)
c.13692A= (p.Ala4564=)
c.13293A= (p.Ala4431=)
c.13281A= (p.Ala4427=)
c.13239A= (p.Ala4413=)
c.13215A= (p.Ala4405=)
c.13185A= (p.Ala4395=)
c.13362A= (p.Ala4454=)
c.13212A= (p.Ala4404=)
c.9912A= (p.Ala3304=)
8g.143916556G>ACA4923858PLECc.13397C>T (p.Ala4466Val)
c.13316C>T (p.Ala4439Val)
c.12983C>T (p.Ala4328Val)
c.13196C>T (p.Ala4399Val)
c.13265C>T (p.Ala4422Val)
c.9965C>T (p.Ala3322Val)
c.13676C>T (p.Ala4559Val)
c.13199C>T (p.Ala4400Val)
c.13223C>T (p.Ala4408Val)
c.13277C>T (p.Ala4426Val)
c.13169C>T (p.Ala4390Val)
c.13346C>T (p.Ala4449Val)
c.13334C>T (p.Ala4445Val)
c.13691C>T (p.Ala4564Val)
c.13292C>T (p.Ala4431Val)
c.13280C>T (p.Ala4427Val)
c.13238C>T (p.Ala4413Val)
c.13214C>T (p.Ala4405Val)
c.13184C>T (p.Ala4395Val)
c.13361C>T (p.Ala4454Val)
c.13211C>T (p.Ala4404Val)
c.9911C>T (p.Ala3304Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916556G>CCA372475777PLECc.13397C>G (p.Ala4466Gly)
c.13316C>G (p.Ala4439Gly)
c.12983C>G (p.Ala4328Gly)
c.13196C>G (p.Ala4399Gly)
c.13265C>G (p.Ala4422Gly)
c.9965C>G (p.Ala3322Gly)
c.13676C>G (p.Ala4559Gly)
c.13199C>G (p.Ala4400Gly)
c.13223C>G (p.Ala4408Gly)
c.13277C>G (p.Ala4426Gly)
c.13169C>G (p.Ala4390Gly)
c.13346C>G (p.Ala4449Gly)
c.13334C>G (p.Ala4445Gly)
c.13691C>G (p.Ala4564Gly)
c.13292C>G (p.Ala4431Gly)
c.13280C>G (p.Ala4427Gly)
c.13238C>G (p.Ala4413Gly)
c.13214C>G (p.Ala4405Gly)
c.13184C>G (p.Ala4395Gly)
c.13361C>G (p.Ala4454Gly)
c.13211C>G (p.Ala4404Gly)
c.9911C>G (p.Ala3304Gly)
8g.143916556G=CA1826037376PLECc.13397C= (p.Ala4466=)
c.13316C= (p.Ala4439=)
c.12983C= (p.Ala4328=)
c.13196C= (p.Ala4399=)
c.13265C= (p.Ala4422=)
c.9965C= (p.Ala3322=)
c.13676C= (p.Ala4559=)
c.13199C= (p.Ala4400=)
c.13223C= (p.Ala4408=)
c.13277C= (p.Ala4426=)
c.13169C= (p.Ala4390=)
c.13346C= (p.Ala4449=)
c.13334C= (p.Ala4445=)
c.13691C= (p.Ala4564=)
c.13292C= (p.Ala4431=)
c.13280C= (p.Ala4427=)
c.13238C= (p.Ala4413=)
c.13214C= (p.Ala4405=)
c.13184C= (p.Ala4395=)
c.13361C= (p.Ala4454=)
c.13211C= (p.Ala4404=)
c.9911C= (p.Ala3304=)
8g.143916556G>TCA372475779PLECc.13397C>A (p.Ala4466Glu)
c.13316C>A (p.Ala4439Glu)
c.12983C>A (p.Ala4328Glu)
c.13196C>A (p.Ala4399Glu)
c.13265C>A (p.Ala4422Glu)
c.9965C>A (p.Ala3322Glu)
c.13676C>A (p.Ala4559Glu)
c.13199C>A (p.Ala4400Glu)
c.13223C>A (p.Ala4408Glu)
c.13277C>A (p.Ala4426Glu)
c.13169C>A (p.Ala4390Glu)
c.13346C>A (p.Ala4449Glu)
c.13334C>A (p.Ala4445Glu)
c.13691C>A (p.Ala4564Glu)
c.13292C>A (p.Ala4431Glu)
c.13280C>A (p.Ala4427Glu)
c.13238C>A (p.Ala4413Glu)
c.13214C>A (p.Ala4405Glu)
c.13184C>A (p.Ala4395Glu)
c.13361C>A (p.Ala4454Glu)
c.13211C>A (p.Ala4404Glu)
c.9911C>A (p.Ala3304Glu)
 dbSNP gnomAD v2 gnomAD v4
8g.143916557C>ACA372475782PLECc.13396G>T (p.Ala4466Ser)
c.13315G>T (p.Ala4439Ser)
c.12982G>T (p.Ala4328Ser)
c.13195G>T (p.Ala4399Ser)
c.13264G>T (p.Ala4422Ser)
c.9964G>T (p.Ala3322Ser)
c.13675G>T (p.Ala4559Ser)
c.13198G>T (p.Ala4400Ser)
c.13222G>T (p.Ala4408Ser)
c.13276G>T (p.Ala4426Ser)
c.13168G>T (p.Ala4390Ser)
c.13345G>T (p.Ala4449Ser)
c.13333G>T (p.Ala4445Ser)
c.13690G>T (p.Ala4564Ser)
c.13291G>T (p.Ala4431Ser)
c.13279G>T (p.Ala4427Ser)
c.13237G>T (p.Ala4413Ser)
c.13213G>T (p.Ala4405Ser)
c.13183G>T (p.Ala4395Ser)
c.13360G>T (p.Ala4454Ser)
c.13210G>T (p.Ala4404Ser)
c.9910G>T (p.Ala3304Ser)
8g.143916557C=CA1826037379PLECc.13396G= (p.Ala4466=)
c.13315G= (p.Ala4439=)
c.12982G= (p.Ala4328=)
c.13195G= (p.Ala4399=)
c.13264G= (p.Ala4422=)
c.9964G= (p.Ala3322=)
c.13675G= (p.Ala4559=)
c.13198G= (p.Ala4400=)
c.13222G= (p.Ala4408=)
c.13276G= (p.Ala4426=)
c.13168G= (p.Ala4390=)
c.13345G= (p.Ala4449=)
c.13333G= (p.Ala4445=)
c.13690G= (p.Ala4564=)
c.13291G= (p.Ala4431=)
c.13279G= (p.Ala4427=)
c.13237G= (p.Ala4413=)
c.13213G= (p.Ala4405=)
c.13183G= (p.Ala4395=)
c.13360G= (p.Ala4454=)
c.13210G= (p.Ala4404=)
c.9910G= (p.Ala3304=)
8g.143916557C>GCA372475784PLECc.13396G>C (p.Ala4466Pro)
c.13315G>C (p.Ala4439Pro)
c.12982G>C (p.Ala4328Pro)
c.13195G>C (p.Ala4399Pro)
c.13264G>C (p.Ala4422Pro)
c.9964G>C (p.Ala3322Pro)
c.13675G>C (p.Ala4559Pro)
c.13198G>C (p.Ala4400Pro)
c.13222G>C (p.Ala4408Pro)
c.13276G>C (p.Ala4426Pro)
c.13168G>C (p.Ala4390Pro)
c.13345G>C (p.Ala4449Pro)
c.13333G>C (p.Ala4445Pro)
c.13690G>C (p.Ala4564Pro)
c.13291G>C (p.Ala4431Pro)
c.13279G>C (p.Ala4427Pro)
c.13237G>C (p.Ala4413Pro)
c.13213G>C (p.Ala4405Pro)
c.13183G>C (p.Ala4395Pro)
c.13360G>C (p.Ala4454Pro)
c.13210G>C (p.Ala4404Pro)
c.9910G>C (p.Ala3304Pro)
8g.143916557C>TCA4923859PLECc.13396G>A (p.Ala4466Thr)
c.13315G>A (p.Ala4439Thr)
c.12982G>A (p.Ala4328Thr)
c.13195G>A (p.Ala4399Thr)
c.13264G>A (p.Ala4422Thr)
c.9964G>A (p.Ala3322Thr)
c.13675G>A (p.Ala4559Thr)
c.13198G>A (p.Ala4400Thr)
c.13222G>A (p.Ala4408Thr)
c.13276G>A (p.Ala4426Thr)
c.13168G>A (p.Ala4390Thr)
c.13345G>A (p.Ala4449Thr)
c.13333G>A (p.Ala4445Thr)
c.13690G>A (p.Ala4564Thr)
c.13291G>A (p.Ala4431Thr)
c.13279G>A (p.Ala4427Thr)
c.13237G>A (p.Ala4413Thr)
c.13213G>A (p.Ala4405Thr)
c.13183G>A (p.Ala4395Thr)
c.13360G>A (p.Ala4454Thr)
c.13210G>A (p.Ala4404Thr)
c.9910G>A (p.Ala3304Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916558G>ACA4923860PLECc.13395C>T (p.Thr4465=)
c.13314C>T (p.Thr4438=)
c.12981C>T (p.Thr4327=)
c.13194C>T (p.Thr4398=)
c.13263C>T (p.Thr4421=)
c.9963C>T (p.Thr3321=)
c.13674C>T (p.Thr4558=)
c.13197C>T (p.Thr4399=)
c.13221C>T (p.Thr4407=)
c.13275C>T (p.Thr4425=)
c.13167C>T (p.Thr4389=)
c.13344C>T (p.Thr4448=)
c.13332C>T (p.Thr4444=)
c.13689C>T (p.Thr4563=)
c.13290C>T (p.Thr4430=)
c.13278C>T (p.Thr4426=)
c.13236C>T (p.Thr4412=)
c.13212C>T (p.Thr4404=)
c.13182C>T (p.Thr4394=)
c.13359C>T (p.Thr4453=)
c.13209C>T (p.Thr4403=)
c.9909C>T (p.Thr3303=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916558G>CCA463525687PLECc.13395C>G (p.Thr4465=)
c.13314C>G (p.Thr4438=)
c.12981C>G (p.Thr4327=)
c.13194C>G (p.Thr4398=)
c.13263C>G (p.Thr4421=)
c.9963C>G (p.Thr3321=)
c.13674C>G (p.Thr4558=)
c.13197C>G (p.Thr4399=)
c.13221C>G (p.Thr4407=)
c.13275C>G (p.Thr4425=)
c.13167C>G (p.Thr4389=)
c.13344C>G (p.Thr4448=)
c.13332C>G (p.Thr4444=)
c.13689C>G (p.Thr4563=)
c.13290C>G (p.Thr4430=)
c.13278C>G (p.Thr4426=)
c.13236C>G (p.Thr4412=)
c.13212C>G (p.Thr4404=)
c.13182C>G (p.Thr4394=)
c.13359C>G (p.Thr4453=)
c.13209C>G (p.Thr4403=)
c.9909C>G (p.Thr3303=)
 ClinVar dbSNP gnomAD v4
8g.143916558G=CA1826037382PLECc.13395C= (p.Thr4465=)
c.13314C= (p.Thr4438=)
c.12981C= (p.Thr4327=)
c.13194C= (p.Thr4398=)
c.13263C= (p.Thr4421=)
c.9963C= (p.Thr3321=)
c.13674C= (p.Thr4558=)
c.13197C= (p.Thr4399=)
c.13221C= (p.Thr4407=)
c.13275C= (p.Thr4425=)
c.13167C= (p.Thr4389=)
c.13344C= (p.Thr4448=)
c.13332C= (p.Thr4444=)
c.13689C= (p.Thr4563=)
c.13290C= (p.Thr4430=)
c.13278C= (p.Thr4426=)
c.13236C= (p.Thr4412=)
c.13212C= (p.Thr4404=)
c.13182C= (p.Thr4394=)
c.13359C= (p.Thr4453=)
c.13209C= (p.Thr4403=)
c.9909C= (p.Thr3303=)
8g.143916558G>TCA4923861PLECc.13395C>A (p.Thr4465=)
c.13314C>A (p.Thr4438=)
c.12981C>A (p.Thr4327=)
c.13194C>A (p.Thr4398=)
c.13263C>A (p.Thr4421=)
c.9963C>A (p.Thr3321=)
c.13674C>A (p.Thr4558=)
c.13197C>A (p.Thr4399=)
c.13221C>A (p.Thr4407=)
c.13275C>A (p.Thr4425=)
c.13167C>A (p.Thr4389=)
c.13344C>A (p.Thr4448=)
c.13332C>A (p.Thr4444=)
c.13689C>A (p.Thr4563=)
c.13290C>A (p.Thr4430=)
c.13278C>A (p.Thr4426=)
c.13236C>A (p.Thr4412=)
c.13212C>A (p.Thr4404=)
c.13182C>A (p.Thr4394=)
c.13359C>A (p.Thr4453=)
c.13209C>A (p.Thr4403=)
c.9909C>A (p.Thr3303=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916559G>ACA372475787PLECc.13394C>T (p.Thr4465Ile)
c.13313C>T (p.Thr4438Ile)
c.12980C>T (p.Thr4327Ile)
c.13193C>T (p.Thr4398Ile)
c.13262C>T (p.Thr4421Ile)
c.9962C>T (p.Thr3321Ile)
c.13673C>T (p.Thr4558Ile)
c.13196C>T (p.Thr4399Ile)
c.13220C>T (p.Thr4407Ile)
c.13274C>T (p.Thr4425Ile)
c.13166C>T (p.Thr4389Ile)
c.13343C>T (p.Thr4448Ile)
c.13331C>T (p.Thr4444Ile)
c.13688C>T (p.Thr4563Ile)
c.13289C>T (p.Thr4430Ile)
c.13277C>T (p.Thr4426Ile)
c.13235C>T (p.Thr4412Ile)
c.13211C>T (p.Thr4404Ile)
c.13181C>T (p.Thr4394Ile)
c.13358C>T (p.Thr4453Ile)
c.13208C>T (p.Thr4403Ile)
c.9908C>T (p.Thr3303Ile)
 gnomAD v4
8g.143916559G>CCA372475789PLECc.13394C>G (p.Thr4465Ser)
c.13313C>G (p.Thr4438Ser)
c.12980C>G (p.Thr4327Ser)
c.13193C>G (p.Thr4398Ser)
c.13262C>G (p.Thr4421Ser)
c.9962C>G (p.Thr3321Ser)
c.13673C>G (p.Thr4558Ser)
c.13196C>G (p.Thr4399Ser)
c.13220C>G (p.Thr4407Ser)
c.13274C>G (p.Thr4425Ser)
c.13166C>G (p.Thr4389Ser)
c.13343C>G (p.Thr4448Ser)
c.13331C>G (p.Thr4444Ser)
c.13688C>G (p.Thr4563Ser)
c.13289C>G (p.Thr4430Ser)
c.13277C>G (p.Thr4426Ser)
c.13235C>G (p.Thr4412Ser)
c.13211C>G (p.Thr4404Ser)
c.13181C>G (p.Thr4394Ser)
c.13358C>G (p.Thr4453Ser)
c.13208C>G (p.Thr4403Ser)
c.9908C>G (p.Thr3303Ser)
8g.143916559G>TCA372475790PLECc.13394C>A (p.Thr4465Asn)
c.13313C>A (p.Thr4438Asn)
c.12980C>A (p.Thr4327Asn)
c.13193C>A (p.Thr4398Asn)
c.13262C>A (p.Thr4421Asn)
c.9962C>A (p.Thr3321Asn)
c.13673C>A (p.Thr4558Asn)
c.13196C>A (p.Thr4399Asn)
c.13220C>A (p.Thr4407Asn)
c.13274C>A (p.Thr4425Asn)
c.13166C>A (p.Thr4389Asn)
c.13343C>A (p.Thr4448Asn)
c.13331C>A (p.Thr4444Asn)
c.13688C>A (p.Thr4563Asn)
c.13289C>A (p.Thr4430Asn)
c.13277C>A (p.Thr4426Asn)
c.13235C>A (p.Thr4412Asn)
c.13211C>A (p.Thr4404Asn)
c.13181C>A (p.Thr4394Asn)
c.13358C>A (p.Thr4453Asn)
c.13208C>A (p.Thr4403Asn)
c.9908C>A (p.Thr3303Asn)
8g.143916560T>ACA372475791PLECc.13393A>T (p.Thr4465Ser)
c.13312A>T (p.Thr4438Ser)
c.12979A>T (p.Thr4327Ser)
c.13192A>T (p.Thr4398Ser)
c.13261A>T (p.Thr4421Ser)
c.9961A>T (p.Thr3321Ser)
c.13672A>T (p.Thr4558Ser)
c.13195A>T (p.Thr4399Ser)
c.13219A>T (p.Thr4407Ser)
c.13273A>T (p.Thr4425Ser)
c.13165A>T (p.Thr4389Ser)
c.13342A>T (p.Thr4448Ser)
c.13330A>T (p.Thr4444Ser)
c.13687A>T (p.Thr4563Ser)
c.13288A>T (p.Thr4430Ser)
c.13276A>T (p.Thr4426Ser)
c.13234A>T (p.Thr4412Ser)
c.13210A>T (p.Thr4404Ser)
c.13180A>T (p.Thr4394Ser)
c.13357A>T (p.Thr4453Ser)
c.13207A>T (p.Thr4403Ser)
c.9907A>T (p.Thr3303Ser)
8g.143916560T>CCA372475793PLECc.13393A>G (p.Thr4465Ala)
c.13312A>G (p.Thr4438Ala)
c.12979A>G (p.Thr4327Ala)
c.13192A>G (p.Thr4398Ala)
c.13261A>G (p.Thr4421Ala)
c.9961A>G (p.Thr3321Ala)
c.13672A>G (p.Thr4558Ala)
c.13195A>G (p.Thr4399Ala)
c.13219A>G (p.Thr4407Ala)
c.13273A>G (p.Thr4425Ala)
c.13165A>G (p.Thr4389Ala)
c.13342A>G (p.Thr4448Ala)
c.13330A>G (p.Thr4444Ala)
c.13687A>G (p.Thr4563Ala)
c.13288A>G (p.Thr4430Ala)
c.13276A>G (p.Thr4426Ala)
c.13234A>G (p.Thr4412Ala)
c.13210A>G (p.Thr4404Ala)
c.13180A>G (p.Thr4394Ala)
c.13357A>G (p.Thr4453Ala)
c.13207A>G (p.Thr4403Ala)
c.9907A>G (p.Thr3303Ala)
8g.143916560T>GCA4923862PLECc.13393A>C (p.Thr4465Pro)
c.13312A>C (p.Thr4438Pro)
c.12979A>C (p.Thr4327Pro)
c.13192A>C (p.Thr4398Pro)
c.13261A>C (p.Thr4421Pro)
c.9961A>C (p.Thr3321Pro)
c.13672A>C (p.Thr4558Pro)
c.13195A>C (p.Thr4399Pro)
c.13219A>C (p.Thr4407Pro)
c.13273A>C (p.Thr4425Pro)
c.13165A>C (p.Thr4389Pro)
c.13342A>C (p.Thr4448Pro)
c.13330A>C (p.Thr4444Pro)
c.13687A>C (p.Thr4563Pro)
c.13288A>C (p.Thr4430Pro)
c.13276A>C (p.Thr4426Pro)
c.13234A>C (p.Thr4412Pro)
c.13210A>C (p.Thr4404Pro)
c.13180A>C (p.Thr4394Pro)
c.13357A>C (p.Thr4453Pro)
c.13207A>C (p.Thr4403Pro)
c.9907A>C (p.Thr3303Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916560T=CA1826037384PLECc.13393A= (p.Thr4465=)
c.13312A= (p.Thr4438=)
c.12979A= (p.Thr4327=)
c.13192A= (p.Thr4398=)
c.13261A= (p.Thr4421=)
c.9961A= (p.Thr3321=)
c.13672A= (p.Thr4558=)
c.13195A= (p.Thr4399=)
c.13219A= (p.Thr4407=)
c.13273A= (p.Thr4425=)
c.13165A= (p.Thr4389=)
c.13342A= (p.Thr4448=)
c.13330A= (p.Thr4444=)
c.13687A= (p.Thr4563=)
c.13288A= (p.Thr4430=)
c.13276A= (p.Thr4426=)
c.13234A= (p.Thr4412=)
c.13210A= (p.Thr4404=)
c.13180A= (p.Thr4394=)
c.13357A= (p.Thr4453=)
c.13207A= (p.Thr4403=)
c.9907A= (p.Thr3303=)
8g.143916561G>ACA463525688PLECc.13392C>T (p.Arg4464=)
c.13311C>T (p.Arg4437=)
c.12978C>T (p.Arg4326=)
c.13191C>T (p.Arg4397=)
c.13260C>T (p.Arg4420=)
c.9960C>T (p.Arg3320=)
c.13671C>T (p.Arg4557=)
c.13194C>T (p.Arg4398=)
c.13218C>T (p.Arg4406=)
c.13272C>T (p.Arg4424=)
c.13164C>T (p.Arg4388=)
c.13341C>T (p.Arg4447=)
c.13329C>T (p.Arg4443=)
c.13686C>T (p.Arg4562=)
c.13287C>T (p.Arg4429=)
c.13275C>T (p.Arg4425=)
c.13233C>T (p.Arg4411=)
c.13209C>T (p.Arg4403=)
c.13179C>T (p.Arg4393=)
c.13356C>T (p.Arg4452=)
c.13206C>T (p.Arg4402=)
c.9906C>T (p.Arg3302=)
 dbSNP
8g.143916561G>CCA463525689PLECc.13392C>G (p.Arg4464=)
c.13311C>G (p.Arg4437=)
c.12978C>G (p.Arg4326=)
c.13191C>G (p.Arg4397=)
c.13260C>G (p.Arg4420=)
c.9960C>G (p.Arg3320=)
c.13671C>G (p.Arg4557=)
c.13194C>G (p.Arg4398=)
c.13218C>G (p.Arg4406=)
c.13272C>G (p.Arg4424=)
c.13164C>G (p.Arg4388=)
c.13341C>G (p.Arg4447=)
c.13329C>G (p.Arg4443=)
c.13686C>G (p.Arg4562=)
c.13287C>G (p.Arg4429=)
c.13275C>G (p.Arg4425=)
c.13233C>G (p.Arg4411=)
c.13209C>G (p.Arg4403=)
c.13179C>G (p.Arg4393=)
c.13356C>G (p.Arg4452=)
c.13206C>G (p.Arg4402=)
c.9906C>G (p.Arg3302=)
8g.143916561G=CA1826037386PLECc.13392C= (p.Arg4464=)
c.13311C= (p.Arg4437=)
c.12978C= (p.Arg4326=)
c.13191C= (p.Arg4397=)
c.13260C= (p.Arg4420=)
c.9960C= (p.Arg3320=)
c.13671C= (p.Arg4557=)
c.13194C= (p.Arg4398=)
c.13218C= (p.Arg4406=)
c.13272C= (p.Arg4424=)
c.13164C= (p.Arg4388=)
c.13341C= (p.Arg4447=)
c.13329C= (p.Arg4443=)
c.13686C= (p.Arg4562=)
c.13287C= (p.Arg4429=)
c.13275C= (p.Arg4425=)
c.13233C= (p.Arg4411=)
c.13209C= (p.Arg4403=)
c.13179C= (p.Arg4393=)
c.13356C= (p.Arg4452=)
c.13206C= (p.Arg4402=)
c.9906C= (p.Arg3302=)
8g.143916561G>TCA463525690PLECc.13392C>A (p.Arg4464=)
c.13311C>A (p.Arg4437=)
c.12978C>A (p.Arg4326=)
c.13191C>A (p.Arg4397=)
c.13260C>A (p.Arg4420=)
c.9960C>A (p.Arg3320=)
c.13671C>A (p.Arg4557=)
c.13194C>A (p.Arg4398=)
c.13218C>A (p.Arg4406=)
c.13272C>A (p.Arg4424=)
c.13164C>A (p.Arg4388=)
c.13341C>A (p.Arg4447=)
c.13329C>A (p.Arg4443=)
c.13686C>A (p.Arg4562=)
c.13287C>A (p.Arg4429=)
c.13275C>A (p.Arg4425=)
c.13233C>A (p.Arg4411=)
c.13209C>A (p.Arg4403=)
c.13179C>A (p.Arg4393=)
c.13356C>A (p.Arg4452=)
c.13206C>A (p.Arg4402=)
c.9906C>A (p.Arg3302=)
8g.143916562C>ACA372475794PLECc.13391G>T (p.Arg4464Leu)
c.13310G>T (p.Arg4437Leu)
c.12977G>T (p.Arg4326Leu)
c.13190G>T (p.Arg4397Leu)
c.13259G>T (p.Arg4420Leu)
c.9959G>T (p.Arg3320Leu)
c.13670G>T (p.Arg4557Leu)
c.13193G>T (p.Arg4398Leu)
c.13217G>T (p.Arg4406Leu)
c.13271G>T (p.Arg4424Leu)
c.13163G>T (p.Arg4388Leu)
c.13340G>T (p.Arg4447Leu)
c.13328G>T (p.Arg4443Leu)
c.13685G>T (p.Arg4562Leu)
c.13286G>T (p.Arg4429Leu)
c.13274G>T (p.Arg4425Leu)
c.13232G>T (p.Arg4411Leu)
c.13208G>T (p.Arg4403Leu)
c.13178G>T (p.Arg4393Leu)
c.13355G>T (p.Arg4452Leu)
c.13205G>T (p.Arg4402Leu)
c.9905G>T (p.Arg3302Leu)
8g.143916562C=CA1826037388PLECc.13391G= (p.Arg4464=)
c.13310G= (p.Arg4437=)
c.12977G= (p.Arg4326=)
c.13190G= (p.Arg4397=)
c.13259G= (p.Arg4420=)
c.9959G= (p.Arg3320=)
c.13670G= (p.Arg4557=)
c.13193G= (p.Arg4398=)
c.13217G= (p.Arg4406=)
c.13271G= (p.Arg4424=)
c.13163G= (p.Arg4388=)
c.13340G= (p.Arg4447=)
c.13328G= (p.Arg4443=)
c.13685G= (p.Arg4562=)
c.13286G= (p.Arg4429=)
c.13274G= (p.Arg4425=)
c.13232G= (p.Arg4411=)
c.13208G= (p.Arg4403=)
c.13178G= (p.Arg4393=)
c.13355G= (p.Arg4452=)
c.13205G= (p.Arg4402=)
c.9905G= (p.Arg3302=)
8g.143916562C>GCA372475797PLECc.13391G>C (p.Arg4464Pro)
c.13310G>C (p.Arg4437Pro)
c.12977G>C (p.Arg4326Pro)
c.13190G>C (p.Arg4397Pro)
c.13259G>C (p.Arg4420Pro)
c.9959G>C (p.Arg3320Pro)
c.13670G>C (p.Arg4557Pro)
c.13193G>C (p.Arg4398Pro)
c.13217G>C (p.Arg4406Pro)
c.13271G>C (p.Arg4424Pro)
c.13163G>C (p.Arg4388Pro)
c.13340G>C (p.Arg4447Pro)
c.13328G>C (p.Arg4443Pro)
c.13685G>C (p.Arg4562Pro)
c.13286G>C (p.Arg4429Pro)
c.13274G>C (p.Arg4425Pro)
c.13232G>C (p.Arg4411Pro)
c.13208G>C (p.Arg4403Pro)
c.13178G>C (p.Arg4393Pro)
c.13355G>C (p.Arg4452Pro)
c.13205G>C (p.Arg4402Pro)
c.9905G>C (p.Arg3302Pro)
8g.143916562C>TCA4923863PLECc.13391G>A (p.Arg4464His)
c.13310G>A (p.Arg4437His)
c.12977G>A (p.Arg4326His)
c.13190G>A (p.Arg4397His)
c.13259G>A (p.Arg4420His)
c.9959G>A (p.Arg3320His)
c.13670G>A (p.Arg4557His)
c.13193G>A (p.Arg4398His)
c.13217G>A (p.Arg4406His)
c.13271G>A (p.Arg4424His)
c.13163G>A (p.Arg4388His)
c.13340G>A (p.Arg4447His)
c.13328G>A (p.Arg4443His)
c.13685G>A (p.Arg4562His)
c.13286G>A (p.Arg4429His)
c.13274G>A (p.Arg4425His)
c.13232G>A (p.Arg4411His)
c.13208G>A (p.Arg4403His)
c.13178G>A (p.Arg4393His)
c.13355G>A (p.Arg4452His)
c.13205G>A (p.Arg4402His)
c.9905G>A (p.Arg3302His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916563G>ACA372475803PLECc.13390C>T (p.Arg4464Cys)
c.13309C>T (p.Arg4437Cys)
c.12976C>T (p.Arg4326Cys)
c.13189C>T (p.Arg4397Cys)
c.13258C>T (p.Arg4420Cys)
c.9958C>T (p.Arg3320Cys)
c.13669C>T (p.Arg4557Cys)
c.13192C>T (p.Arg4398Cys)
c.13216C>T (p.Arg4406Cys)
c.13270C>T (p.Arg4424Cys)
c.13162C>T (p.Arg4388Cys)
c.13339C>T (p.Arg4447Cys)
c.13327C>T (p.Arg4443Cys)
c.13684C>T (p.Arg4562Cys)
c.13285C>T (p.Arg4429Cys)
c.13273C>T (p.Arg4425Cys)
c.13231C>T (p.Arg4411Cys)
c.13207C>T (p.Arg4403Cys)
c.13177C>T (p.Arg4393Cys)
c.13354C>T (p.Arg4452Cys)
c.13204C>T (p.Arg4402Cys)
c.9904C>T (p.Arg3302Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916563G>CCA372475801PLECc.13390C>G (p.Arg4464Gly)
c.13309C>G (p.Arg4437Gly)
c.12976C>G (p.Arg4326Gly)
c.13189C>G (p.Arg4397Gly)
c.13258C>G (p.Arg4420Gly)
c.9958C>G (p.Arg3320Gly)
c.13669C>G (p.Arg4557Gly)
c.13192C>G (p.Arg4398Gly)
c.13216C>G (p.Arg4406Gly)
c.13270C>G (p.Arg4424Gly)
c.13162C>G (p.Arg4388Gly)
c.13339C>G (p.Arg4447Gly)
c.13327C>G (p.Arg4443Gly)
c.13684C>G (p.Arg4562Gly)
c.13285C>G (p.Arg4429Gly)
c.13273C>G (p.Arg4425Gly)
c.13231C>G (p.Arg4411Gly)
c.13207C>G (p.Arg4403Gly)
c.13177C>G (p.Arg4393Gly)
c.13354C>G (p.Arg4452Gly)
c.13204C>G (p.Arg4402Gly)
c.9904C>G (p.Arg3302Gly)
8g.143916563G=CA1826037390PLECc.13390C= (p.Arg4464=)
c.13309C= (p.Arg4437=)
c.12976C= (p.Arg4326=)
c.13189C= (p.Arg4397=)
c.13258C= (p.Arg4420=)
c.9958C= (p.Arg3320=)
c.13669C= (p.Arg4557=)
c.13192C= (p.Arg4398=)
c.13216C= (p.Arg4406=)
c.13270C= (p.Arg4424=)
c.13162C= (p.Arg4388=)
c.13339C= (p.Arg4447=)
c.13327C= (p.Arg4443=)
c.13684C= (p.Arg4562=)
c.13285C= (p.Arg4429=)
c.13273C= (p.Arg4425=)
c.13231C= (p.Arg4411=)
c.13207C= (p.Arg4403=)
c.13177C= (p.Arg4393=)
c.13354C= (p.Arg4452=)
c.13204C= (p.Arg4402=)
c.9904C= (p.Arg3302=)
8g.143916563G>TCA372475799PLECc.13390C>A (p.Arg4464Ser)
c.13309C>A (p.Arg4437Ser)
c.12976C>A (p.Arg4326Ser)
c.13189C>A (p.Arg4397Ser)
c.13258C>A (p.Arg4420Ser)
c.9958C>A (p.Arg3320Ser)
c.13669C>A (p.Arg4557Ser)
c.13192C>A (p.Arg4398Ser)
c.13216C>A (p.Arg4406Ser)
c.13270C>A (p.Arg4424Ser)
c.13162C>A (p.Arg4388Ser)
c.13339C>A (p.Arg4447Ser)
c.13327C>A (p.Arg4443Ser)
c.13684C>A (p.Arg4562Ser)
c.13285C>A (p.Arg4429Ser)
c.13273C>A (p.Arg4425Ser)
c.13231C>A (p.Arg4411Ser)
c.13207C>A (p.Arg4403Ser)
c.13177C>A (p.Arg4393Ser)
c.13354C>A (p.Arg4452Ser)
c.13204C>A (p.Arg4402Ser)
c.9904C>A (p.Arg3302Ser)
8g.143916564G>ACA463525693PLECc.13389C>T (p.Ala4463=)
c.13308C>T (p.Ala4436=)
c.12975C>T (p.Ala4325=)
c.13188C>T (p.Ala4396=)
c.13257C>T (p.Ala4419=)
c.9957C>T (p.Ala3319=)
c.13668C>T (p.Ala4556=)
c.13191C>T (p.Ala4397=)
c.13215C>T (p.Ala4405=)
c.13269C>T (p.Ala4423=)
c.13161C>T (p.Ala4387=)
c.13338C>T (p.Ala4446=)
c.13326C>T (p.Ala4442=)
c.13683C>T (p.Ala4561=)
c.13284C>T (p.Ala4428=)
c.13272C>T (p.Ala4424=)
c.13230C>T (p.Ala4410=)
c.13206C>T (p.Ala4402=)
c.13176C>T (p.Ala4392=)
c.13353C>T (p.Ala4451=)
c.13203C>T (p.Ala4401=)
c.9903C>T (p.Ala3301=)
 gnomAD v4
8g.143916564G>CCA463525691PLECc.13389C>G (p.Ala4463=)
c.13308C>G (p.Ala4436=)
c.12975C>G (p.Ala4325=)
c.13188C>G (p.Ala4396=)
c.13257C>G (p.Ala4419=)
c.9957C>G (p.Ala3319=)
c.13668C>G (p.Ala4556=)
c.13191C>G (p.Ala4397=)
c.13215C>G (p.Ala4405=)
c.13269C>G (p.Ala4423=)
c.13161C>G (p.Ala4387=)
c.13338C>G (p.Ala4446=)
c.13326C>G (p.Ala4442=)
c.13683C>G (p.Ala4561=)
c.13284C>G (p.Ala4428=)
c.13272C>G (p.Ala4424=)
c.13230C>G (p.Ala4410=)
c.13206C>G (p.Ala4402=)
c.13176C>G (p.Ala4392=)
c.13353C>G (p.Ala4451=)
c.13203C>G (p.Ala4401=)
c.9903C>G (p.Ala3301=)
8g.143916564G=CA1826037391PLECc.13389C= (p.Ala4463=)
c.13308C= (p.Ala4436=)
c.12975C= (p.Ala4325=)
c.13188C= (p.Ala4396=)
c.13257C= (p.Ala4419=)
c.9957C= (p.Ala3319=)
c.13668C= (p.Ala4556=)
c.13191C= (p.Ala4397=)
c.13215C= (p.Ala4405=)
c.13269C= (p.Ala4423=)
c.13161C= (p.Ala4387=)
c.13338C= (p.Ala4446=)
c.13326C= (p.Ala4442=)
c.13683C= (p.Ala4561=)
c.13284C= (p.Ala4428=)
c.13272C= (p.Ala4424=)
c.13230C= (p.Ala4410=)
c.13206C= (p.Ala4402=)
c.13176C= (p.Ala4392=)
c.13353C= (p.Ala4451=)
c.13203C= (p.Ala4401=)
c.9903C= (p.Ala3301=)
8g.143916564G>TCA463525692PLECc.13389C>A (p.Ala4463=)
c.13308C>A (p.Ala4436=)
c.12975C>A (p.Ala4325=)
c.13188C>A (p.Ala4396=)
c.13257C>A (p.Ala4419=)
c.9957C>A (p.Ala3319=)
c.13668C>A (p.Ala4556=)
c.13191C>A (p.Ala4397=)
c.13215C>A (p.Ala4405=)
c.13269C>A (p.Ala4423=)
c.13161C>A (p.Ala4387=)
c.13338C>A (p.Ala4446=)
c.13326C>A (p.Ala4442=)
c.13683C>A (p.Ala4561=)
c.13284C>A (p.Ala4428=)
c.13272C>A (p.Ala4424=)
c.13230C>A (p.Ala4410=)
c.13206C>A (p.Ala4402=)
c.13176C>A (p.Ala4392=)
c.13353C>A (p.Ala4451=)
c.13203C>A (p.Ala4401=)
c.9903C>A (p.Ala3301=)
 dbSNP
8g.143916565G>ACA4923864PLECc.13388C>T (p.Ala4463Val)
c.13307C>T (p.Ala4436Val)
c.12974C>T (p.Ala4325Val)
c.13187C>T (p.Ala4396Val)
c.13256C>T (p.Ala4419Val)
c.9956C>T (p.Ala3319Val)
c.13667C>T (p.Ala4556Val)
c.13190C>T (p.Ala4397Val)
c.13214C>T (p.Ala4405Val)
c.13268C>T (p.Ala4423Val)
c.13160C>T (p.Ala4387Val)
c.13337C>T (p.Ala4446Val)
c.13325C>T (p.Ala4442Val)
c.13682C>T (p.Ala4561Val)
c.13283C>T (p.Ala4428Val)
c.13271C>T (p.Ala4424Val)
c.13229C>T (p.Ala4410Val)
c.13205C>T (p.Ala4402Val)
c.13175C>T (p.Ala4392Val)
c.13352C>T (p.Ala4451Val)
c.13202C>T (p.Ala4401Val)
c.9902C>T (p.Ala3301Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916565G>CCA372475805PLECc.13388C>G (p.Ala4463Gly)
c.13307C>G (p.Ala4436Gly)
c.12974C>G (p.Ala4325Gly)
c.13187C>G (p.Ala4396Gly)
c.13256C>G (p.Ala4419Gly)
c.9956C>G (p.Ala3319Gly)
c.13667C>G (p.Ala4556Gly)
c.13190C>G (p.Ala4397Gly)
c.13214C>G (p.Ala4405Gly)
c.13268C>G (p.Ala4423Gly)
c.13160C>G (p.Ala4387Gly)
c.13337C>G (p.Ala4446Gly)
c.13325C>G (p.Ala4442Gly)
c.13682C>G (p.Ala4561Gly)
c.13283C>G (p.Ala4428Gly)
c.13271C>G (p.Ala4424Gly)
c.13229C>G (p.Ala4410Gly)
c.13205C>G (p.Ala4402Gly)
c.13175C>G (p.Ala4392Gly)
c.13352C>G (p.Ala4451Gly)
c.13202C>G (p.Ala4401Gly)
c.9902C>G (p.Ala3301Gly)
 gnomAD v4
8g.143916565G=CA1826037393PLECc.13388C= (p.Ala4463=)
c.13307C= (p.Ala4436=)
c.12974C= (p.Ala4325=)
c.13187C= (p.Ala4396=)
c.13256C= (p.Ala4419=)
c.9956C= (p.Ala3319=)
c.13667C= (p.Ala4556=)
c.13190C= (p.Ala4397=)
c.13214C= (p.Ala4405=)
c.13268C= (p.Ala4423=)
c.13160C= (p.Ala4387=)
c.13337C= (p.Ala4446=)
c.13325C= (p.Ala4442=)
c.13682C= (p.Ala4561=)
c.13283C= (p.Ala4428=)
c.13271C= (p.Ala4424=)
c.13229C= (p.Ala4410=)
c.13205C= (p.Ala4402=)
c.13175C= (p.Ala4392=)
c.13352C= (p.Ala4451=)
c.13202C= (p.Ala4401=)
c.9902C= (p.Ala3301=)
8g.143916565G>TCA372475806PLECc.13388C>A (p.Ala4463Asp)
c.13307C>A (p.Ala4436Asp)
c.12974C>A (p.Ala4325Asp)
c.13187C>A (p.Ala4396Asp)
c.13256C>A (p.Ala4419Asp)
c.9956C>A (p.Ala3319Asp)
c.13667C>A (p.Ala4556Asp)
c.13190C>A (p.Ala4397Asp)
c.13214C>A (p.Ala4405Asp)
c.13268C>A (p.Ala4423Asp)
c.13160C>A (p.Ala4387Asp)
c.13337C>A (p.Ala4446Asp)
c.13325C>A (p.Ala4442Asp)
c.13682C>A (p.Ala4561Asp)
c.13283C>A (p.Ala4428Asp)
c.13271C>A (p.Ala4424Asp)
c.13229C>A (p.Ala4410Asp)
c.13205C>A (p.Ala4402Asp)
c.13175C>A (p.Ala4392Asp)
c.13352C>A (p.Ala4451Asp)
c.13202C>A (p.Ala4401Asp)
c.9902C>A (p.Ala3301Asp)
 gnomAD v4
8g.143916566C>ACA372475808PLECc.13387G>T (p.Ala4463Ser)
c.13306G>T (p.Ala4436Ser)
c.12973G>T (p.Ala4325Ser)
c.13186G>T (p.Ala4396Ser)
c.13255G>T (p.Ala4419Ser)
c.9955G>T (p.Ala3319Ser)
c.13666G>T (p.Ala4556Ser)
c.13189G>T (p.Ala4397Ser)
c.13213G>T (p.Ala4405Ser)
c.13267G>T (p.Ala4423Ser)
c.13159G>T (p.Ala4387Ser)
c.13336G>T (p.Ala4446Ser)
c.13324G>T (p.Ala4442Ser)
c.13681G>T (p.Ala4561Ser)
c.13282G>T (p.Ala4428Ser)
c.13270G>T (p.Ala4424Ser)
c.13228G>T (p.Ala4410Ser)
c.13204G>T (p.Ala4402Ser)
c.13174G>T (p.Ala4392Ser)
c.13351G>T (p.Ala4451Ser)
c.13201G>T (p.Ala4401Ser)
c.9901G>T (p.Ala3301Ser)
8g.143916566C=CA1826037395PLECc.13387G= (p.Ala4463=)
c.13306G= (p.Ala4436=)
c.12973G= (p.Ala4325=)
c.13186G= (p.Ala4396=)
c.13255G= (p.Ala4419=)
c.9955G= (p.Ala3319=)
c.13666G= (p.Ala4556=)
c.13189G= (p.Ala4397=)
c.13213G= (p.Ala4405=)
c.13267G= (p.Ala4423=)
c.13159G= (p.Ala4387=)
c.13336G= (p.Ala4446=)
c.13324G= (p.Ala4442=)
c.13681G= (p.Ala4561=)
c.13282G= (p.Ala4428=)
c.13270G= (p.Ala4424=)
c.13228G= (p.Ala4410=)
c.13204G= (p.Ala4402=)
c.13174G= (p.Ala4392=)
c.13351G= (p.Ala4451=)
c.13201G= (p.Ala4401=)
c.9901G= (p.Ala3301=)
8g.143916566C>GCA4923865PLECc.13387G>C (p.Ala4463Pro)
c.13306G>C (p.Ala4436Pro)
c.12973G>C (p.Ala4325Pro)
c.13186G>C (p.Ala4396Pro)
c.13255G>C (p.Ala4419Pro)
c.9955G>C (p.Ala3319Pro)
c.13666G>C (p.Ala4556Pro)
c.13189G>C (p.Ala4397Pro)
c.13213G>C (p.Ala4405Pro)
c.13267G>C (p.Ala4423Pro)
c.13159G>C (p.Ala4387Pro)
c.13336G>C (p.Ala4446Pro)
c.13324G>C (p.Ala4442Pro)
c.13681G>C (p.Ala4561Pro)
c.13282G>C (p.Ala4428Pro)
c.13270G>C (p.Ala4424Pro)
c.13228G>C (p.Ala4410Pro)
c.13204G>C (p.Ala4402Pro)
c.13174G>C (p.Ala4392Pro)
c.13351G>C (p.Ala4451Pro)
c.13201G>C (p.Ala4401Pro)
c.9901G>C (p.Ala3301Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916566C>TCA4923866PLECc.13387G>A (p.Ala4463Thr)
c.13306G>A (p.Ala4436Thr)
c.12973G>A (p.Ala4325Thr)
c.13186G>A (p.Ala4396Thr)
c.13255G>A (p.Ala4419Thr)
c.9955G>A (p.Ala3319Thr)
c.13666G>A (p.Ala4556Thr)
c.13189G>A (p.Ala4397Thr)
c.13213G>A (p.Ala4405Thr)
c.13267G>A (p.Ala4423Thr)
c.13159G>A (p.Ala4387Thr)
c.13336G>A (p.Ala4446Thr)
c.13324G>A (p.Ala4442Thr)
c.13681G>A (p.Ala4561Thr)
c.13282G>A (p.Ala4428Thr)
c.13270G>A (p.Ala4424Thr)
c.13228G>A (p.Ala4410Thr)
c.13204G>A (p.Ala4402Thr)
c.13174G>A (p.Ala4392Thr)
c.13351G>A (p.Ala4451Thr)
c.13201G>A (p.Ala4401Thr)
c.9901G>A (p.Ala3301Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916567G>ACA4923867PLECc.13386C>T (p.Asp4462=)
c.13305C>T (p.Asp4435=)
c.12972C>T (p.Asp4324=)
c.13185C>T (p.Asp4395=)
c.13254C>T (p.Asp4418=)
c.9954C>T (p.Asp3318=)
c.13665C>T (p.Asp4555=)
c.13188C>T (p.Asp4396=)
c.13212C>T (p.Asp4404=)
c.13266C>T (p.Asp4422=)
c.13158C>T (p.Asp4386=)
c.13335C>T (p.Asp4445=)
c.13323C>T (p.Asp4441=)
c.13680C>T (p.Asp4560=)
c.13281C>T (p.Asp4427=)
c.13269C>T (p.Asp4423=)
c.13227C>T (p.Asp4409=)
c.13203C>T (p.Asp4401=)
c.13173C>T (p.Asp4391=)
c.13350C>T (p.Asp4450=)
c.13200C>T (p.Asp4400=)
c.9900C>T (p.Asp3300=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916567G>CCA372475813PLECc.13386C>G (p.Asp4462Glu)
c.13305C>G (p.Asp4435Glu)
c.12972C>G (p.Asp4324Glu)
c.13185C>G (p.Asp4395Glu)
c.13254C>G (p.Asp4418Glu)
c.9954C>G (p.Asp3318Glu)
c.13665C>G (p.Asp4555Glu)
c.13188C>G (p.Asp4396Glu)
c.13212C>G (p.Asp4404Glu)
c.13266C>G (p.Asp4422Glu)
c.13158C>G (p.Asp4386Glu)
c.13335C>G (p.Asp4445Glu)
c.13323C>G (p.Asp4441Glu)
c.13680C>G (p.Asp4560Glu)
c.13281C>G (p.Asp4427Glu)
c.13269C>G (p.Asp4423Glu)
c.13227C>G (p.Asp4409Glu)
c.13203C>G (p.Asp4401Glu)
c.13173C>G (p.Asp4391Glu)
c.13350C>G (p.Asp4450Glu)
c.13200C>G (p.Asp4400Glu)
c.9900C>G (p.Asp3300Glu)
8g.143916567G=CA1826037399PLECc.13386C= (p.Asp4462=)
c.13305C= (p.Asp4435=)
c.12972C= (p.Asp4324=)
c.13185C= (p.Asp4395=)
c.13254C= (p.Asp4418=)
c.9954C= (p.Asp3318=)
c.13665C= (p.Asp4555=)
c.13188C= (p.Asp4396=)
c.13212C= (p.Asp4404=)
c.13266C= (p.Asp4422=)
c.13158C= (p.Asp4386=)
c.13335C= (p.Asp4445=)
c.13323C= (p.Asp4441=)
c.13680C= (p.Asp4560=)
c.13281C= (p.Asp4427=)
c.13269C= (p.Asp4423=)
c.13227C= (p.Asp4409=)
c.13203C= (p.Asp4401=)
c.13173C= (p.Asp4391=)
c.13350C= (p.Asp4450=)
c.13200C= (p.Asp4400=)
c.9900C= (p.Asp3300=)
8g.143916567G>TCA372475814PLECc.13386C>A (p.Asp4462Glu)
c.13305C>A (p.Asp4435Glu)
c.12972C>A (p.Asp4324Glu)
c.13185C>A (p.Asp4395Glu)
c.13254C>A (p.Asp4418Glu)
c.9954C>A (p.Asp3318Glu)
c.13665C>A (p.Asp4555Glu)
c.13188C>A (p.Asp4396Glu)
c.13212C>A (p.Asp4404Glu)
c.13266C>A (p.Asp4422Glu)
c.13158C>A (p.Asp4386Glu)
c.13335C>A (p.Asp4445Glu)
c.13323C>A (p.Asp4441Glu)
c.13680C>A (p.Asp4560Glu)
c.13281C>A (p.Asp4427Glu)
c.13269C>A (p.Asp4423Glu)
c.13227C>A (p.Asp4409Glu)
c.13203C>A (p.Asp4401Glu)
c.13173C>A (p.Asp4391Glu)
c.13350C>A (p.Asp4450Glu)
c.13200C>A (p.Asp4400Glu)
c.9900C>A (p.Asp3300Glu)
 gnomAD v4
8g.143916568T>ACA187606685PLECc.13385A>T (p.Asp4462Val)
c.13304A>T (p.Asp4435Val)
c.12971A>T (p.Asp4324Val)
c.13184A>T (p.Asp4395Val)
c.13253A>T (p.Asp4418Val)
c.9953A>T (p.Asp3318Val)
c.13664A>T (p.Asp4555Val)
c.13187A>T (p.Asp4396Val)
c.13211A>T (p.Asp4404Val)
c.13265A>T (p.Asp4422Val)
c.13157A>T (p.Asp4386Val)
c.13334A>T (p.Asp4445Val)
c.13322A>T (p.Asp4441Val)
c.13679A>T (p.Asp4560Val)
c.13280A>T (p.Asp4427Val)
c.13268A>T (p.Asp4423Val)
c.13226A>T (p.Asp4409Val)
c.13202A>T (p.Asp4401Val)
c.13172A>T (p.Asp4391Val)
c.13349A>T (p.Asp4450Val)
c.13199A>T (p.Asp4400Val)
c.9899A>T (p.Asp3300Val)
 dbSNP gnomAD v2 gnomAD v4
8g.143916568T>CCA372475816PLECc.13385A>G (p.Asp4462Gly)
c.13304A>G (p.Asp4435Gly)
c.12971A>G (p.Asp4324Gly)
c.13184A>G (p.Asp4395Gly)
c.13253A>G (p.Asp4418Gly)
c.9953A>G (p.Asp3318Gly)
c.13664A>G (p.Asp4555Gly)
c.13187A>G (p.Asp4396Gly)
c.13211A>G (p.Asp4404Gly)
c.13265A>G (p.Asp4422Gly)
c.13157A>G (p.Asp4386Gly)
c.13334A>G (p.Asp4445Gly)
c.13322A>G (p.Asp4441Gly)
c.13679A>G (p.Asp4560Gly)
c.13280A>G (p.Asp4427Gly)
c.13268A>G (p.Asp4423Gly)
c.13226A>G (p.Asp4409Gly)
c.13202A>G (p.Asp4401Gly)
c.13172A>G (p.Asp4391Gly)
c.13349A>G (p.Asp4450Gly)
c.13199A>G (p.Asp4400Gly)
c.9899A>G (p.Asp3300Gly)
8g.143916568T>GCA372475818PLECc.13385A>C (p.Asp4462Ala)
c.13304A>C (p.Asp4435Ala)
c.12971A>C (p.Asp4324Ala)
c.13184A>C (p.Asp4395Ala)
c.13253A>C (p.Asp4418Ala)
c.9953A>C (p.Asp3318Ala)
c.13664A>C (p.Asp4555Ala)
c.13187A>C (p.Asp4396Ala)
c.13211A>C (p.Asp4404Ala)
c.13265A>C (p.Asp4422Ala)
c.13157A>C (p.Asp4386Ala)
c.13334A>C (p.Asp4445Ala)
c.13322A>C (p.Asp4441Ala)
c.13679A>C (p.Asp4560Ala)
c.13280A>C (p.Asp4427Ala)
c.13268A>C (p.Asp4423Ala)
c.13226A>C (p.Asp4409Ala)
c.13202A>C (p.Asp4401Ala)
c.13172A>C (p.Asp4391Ala)
c.13349A>C (p.Asp4450Ala)
c.13199A>C (p.Asp4400Ala)
c.9899A>C (p.Asp3300Ala)
8g.143916568T=CA1826037404PLECc.13385A= (p.Asp4462=)
c.13304A= (p.Asp4435=)
c.12971A= (p.Asp4324=)
c.13184A= (p.Asp4395=)
c.13253A= (p.Asp4418=)
c.9953A= (p.Asp3318=)
c.13664A= (p.Asp4555=)
c.13187A= (p.Asp4396=)
c.13211A= (p.Asp4404=)
c.13265A= (p.Asp4422=)
c.13157A= (p.Asp4386=)
c.13334A= (p.Asp4445=)
c.13322A= (p.Asp4441=)
c.13679A= (p.Asp4560=)
c.13280A= (p.Asp4427=)
c.13268A= (p.Asp4423=)
c.13226A= (p.Asp4409=)
c.13202A= (p.Asp4401=)
c.13172A= (p.Asp4391=)
c.13349A= (p.Asp4450=)
c.13199A= (p.Asp4400=)
c.9899A= (p.Asp3300=)
8g.143916569C>ACA372475823PLECc.13384G>T (p.Asp4462Tyr)
c.13303G>T (p.Asp4435Tyr)
c.12970G>T (p.Asp4324Tyr)
c.13183G>T (p.Asp4395Tyr)
c.13252G>T (p.Asp4418Tyr)
c.9952G>T (p.Asp3318Tyr)
c.13663G>T (p.Asp4555Tyr)
c.13186G>T (p.Asp4396Tyr)
c.13210G>T (p.Asp4404Tyr)
c.13264G>T (p.Asp4422Tyr)
c.13156G>T (p.Asp4386Tyr)
c.13333G>T (p.Asp4445Tyr)
c.13321G>T (p.Asp4441Tyr)
c.13678G>T (p.Asp4560Tyr)
c.13279G>T (p.Asp4427Tyr)
c.13267G>T (p.Asp4423Tyr)
c.13225G>T (p.Asp4409Tyr)
c.13201G>T (p.Asp4401Tyr)
c.13171G>T (p.Asp4391Tyr)
c.13348G>T (p.Asp4450Tyr)
c.13198G>T (p.Asp4400Tyr)
c.9898G>T (p.Asp3300Tyr)
8g.143916569C=CA1826037406PLECc.13384G= (p.Asp4462=)
c.13303G= (p.Asp4435=)
c.12970G= (p.Asp4324=)
c.13183G= (p.Asp4395=)
c.13252G= (p.Asp4418=)
c.9952G= (p.Asp3318=)
c.13663G= (p.Asp4555=)
c.13186G= (p.Asp4396=)
c.13210G= (p.Asp4404=)
c.13264G= (p.Asp4422=)
c.13156G= (p.Asp4386=)
c.13333G= (p.Asp4445=)
c.13321G= (p.Asp4441=)
c.13678G= (p.Asp4560=)
c.13279G= (p.Asp4427=)
c.13267G= (p.Asp4423=)
c.13225G= (p.Asp4409=)
c.13201G= (p.Asp4401=)
c.13171G= (p.Asp4391=)
c.13348G= (p.Asp4450=)
c.13198G= (p.Asp4400=)
c.9898G= (p.Asp3300=)
8g.143916569C>GCA372475821PLECc.13384G>C (p.Asp4462His)
c.13303G>C (p.Asp4435His)
c.12970G>C (p.Asp4324His)
c.13183G>C (p.Asp4395His)
c.13252G>C (p.Asp4418His)
c.9952G>C (p.Asp3318His)
c.13663G>C (p.Asp4555His)
c.13186G>C (p.Asp4396His)
c.13210G>C (p.Asp4404His)
c.13264G>C (p.Asp4422His)
c.13156G>C (p.Asp4386His)
c.13333G>C (p.Asp4445His)
c.13321G>C (p.Asp4441His)
c.13678G>C (p.Asp4560His)
c.13279G>C (p.Asp4427His)
c.13267G>C (p.Asp4423His)
c.13225G>C (p.Asp4409His)
c.13201G>C (p.Asp4401His)
c.13171G>C (p.Asp4391His)
c.13348G>C (p.Asp4450His)
c.13198G>C (p.Asp4400His)
c.9898G>C (p.Asp3300His)
8g.143916569C>TCA372475820PLECc.13384G>A (p.Asp4462Asn)
c.13303G>A (p.Asp4435Asn)
c.12970G>A (p.Asp4324Asn)
c.13183G>A (p.Asp4395Asn)
c.13252G>A (p.Asp4418Asn)
c.9952G>A (p.Asp3318Asn)
c.13663G>A (p.Asp4555Asn)
c.13186G>A (p.Asp4396Asn)
c.13210G>A (p.Asp4404Asn)
c.13264G>A (p.Asp4422Asn)
c.13156G>A (p.Asp4386Asn)
c.13333G>A (p.Asp4445Asn)
c.13321G>A (p.Asp4441Asn)
c.13678G>A (p.Asp4560Asn)
c.13279G>A (p.Asp4427Asn)
c.13267G>A (p.Asp4423Asn)
c.13225G>A (p.Asp4409Asn)
c.13201G>A (p.Asp4401Asn)
c.13171G>A (p.Asp4391Asn)
c.13348G>A (p.Asp4450Asn)
c.13198G>A (p.Asp4400Asn)
c.9898G>A (p.Asp3300Asn)
 dbSNP
8g.143916570C>ACA463525694PLECc.13383G>T (p.Val4461=)
c.13302G>T (p.Val4434=)
c.12969G>T (p.Val4323=)
c.13182G>T (p.Val4394=)
c.13251G>T (p.Val4417=)
c.9951G>T (p.Val3317=)
c.13662G>T (p.Val4554=)
c.13185G>T (p.Val4395=)
c.13209G>T (p.Val4403=)
c.13263G>T (p.Val4421=)
c.13155G>T (p.Val4385=)
c.13332G>T (p.Val4444=)
c.13320G>T (p.Val4440=)
c.13677G>T (p.Val4559=)
c.13278G>T (p.Val4426=)
c.13266G>T (p.Val4422=)
c.13224G>T (p.Val4408=)
c.13200G>T (p.Val4400=)
c.13170G>T (p.Val4390=)
c.13347G>T (p.Val4449=)
c.13197G>T (p.Val4399=)
c.9897G>T (p.Val3299=)
8g.143916570C>GCA463525695PLECc.13383G>C (p.Val4461=)
c.13302G>C (p.Val4434=)
c.12969G>C (p.Val4323=)
c.13182G>C (p.Val4394=)
c.13251G>C (p.Val4417=)
c.9951G>C (p.Val3317=)
c.13662G>C (p.Val4554=)
c.13185G>C (p.Val4395=)
c.13209G>C (p.Val4403=)
c.13263G>C (p.Val4421=)
c.13155G>C (p.Val4385=)
c.13332G>C (p.Val4444=)
c.13320G>C (p.Val4440=)
c.13677G>C (p.Val4559=)
c.13278G>C (p.Val4426=)
c.13266G>C (p.Val4422=)
c.13224G>C (p.Val4408=)
c.13200G>C (p.Val4400=)
c.13170G>C (p.Val4390=)
c.13347G>C (p.Val4449=)
c.13197G>C (p.Val4399=)
c.9897G>C (p.Val3299=)
8g.143916570C>TCA463525696PLECc.13383G>A (p.Val4461=)
c.13302G>A (p.Val4434=)
c.12969G>A (p.Val4323=)
c.13182G>A (p.Val4394=)
c.13251G>A (p.Val4417=)
c.9951G>A (p.Val3317=)
c.13662G>A (p.Val4554=)
c.13185G>A (p.Val4395=)
c.13209G>A (p.Val4403=)
c.13263G>A (p.Val4421=)
c.13155G>A (p.Val4385=)
c.13332G>A (p.Val4444=)
c.13320G>A (p.Val4440=)
c.13677G>A (p.Val4559=)
c.13278G>A (p.Val4426=)
c.13266G>A (p.Val4422=)
c.13224G>A (p.Val4408=)
c.13200G>A (p.Val4400=)
c.13170G>A (p.Val4390=)
c.13347G>A (p.Val4449=)
c.13197G>A (p.Val4399=)
c.9897G>A (p.Val3299=)
8g.143916571A=CA1826037407PLECc.13382T= (p.Val4461=)
c.13301T= (p.Val4434=)
c.12968T= (p.Val4323=)
c.13181T= (p.Val4394=)
c.13250T= (p.Val4417=)
c.9950T= (p.Val3317=)
c.13661T= (p.Val4554=)
c.13184T= (p.Val4395=)
c.13208T= (p.Val4403=)
c.13262T= (p.Val4421=)
c.13154T= (p.Val4385=)
c.13331T= (p.Val4444=)
c.13319T= (p.Val4440=)
c.13676T= (p.Val4559=)
c.13277T= (p.Val4426=)
c.13265T= (p.Val4422=)
c.13223T= (p.Val4408=)
c.13199T= (p.Val4400=)
c.13169T= (p.Val4390=)
c.13346T= (p.Val4449=)
c.13196T= (p.Val4399=)
c.9896T= (p.Val3299=)
8g.143916571A>CCA372475829PLECc.13382T>G (p.Val4461Gly)
c.13301T>G (p.Val4434Gly)
c.12968T>G (p.Val4323Gly)
c.13181T>G (p.Val4394Gly)
c.13250T>G (p.Val4417Gly)
c.9950T>G (p.Val3317Gly)
c.13661T>G (p.Val4554Gly)
c.13184T>G (p.Val4395Gly)
c.13208T>G (p.Val4403Gly)
c.13262T>G (p.Val4421Gly)
c.13154T>G (p.Val4385Gly)
c.13331T>G (p.Val4444Gly)
c.13319T>G (p.Val4440Gly)
c.13676T>G (p.Val4559Gly)
c.13277T>G (p.Val4426Gly)
c.13265T>G (p.Val4422Gly)
c.13223T>G (p.Val4408Gly)
c.13199T>G (p.Val4400Gly)
c.13169T>G (p.Val4390Gly)
c.13346T>G (p.Val4449Gly)
c.13196T>G (p.Val4399Gly)
c.9896T>G (p.Val3299Gly)
8g.143916571A>GCA372475825PLECc.13382T>C (p.Val4461Ala)
c.13301T>C (p.Val4434Ala)
c.12968T>C (p.Val4323Ala)
c.13181T>C (p.Val4394Ala)
c.13250T>C (p.Val4417Ala)
c.9950T>C (p.Val3317Ala)
c.13661T>C (p.Val4554Ala)
c.13184T>C (p.Val4395Ala)
c.13208T>C (p.Val4403Ala)
c.13262T>C (p.Val4421Ala)
c.13154T>C (p.Val4385Ala)
c.13331T>C (p.Val4444Ala)
c.13319T>C (p.Val4440Ala)
c.13676T>C (p.Val4559Ala)
c.13277T>C (p.Val4426Ala)
c.13265T>C (p.Val4422Ala)
c.13223T>C (p.Val4408Ala)
c.13199T>C (p.Val4400Ala)
c.13169T>C (p.Val4390Ala)
c.13346T>C (p.Val4449Ala)
c.13196T>C (p.Val4399Ala)
c.9896T>C (p.Val3299Ala)
 dbSNP gnomAD v3 gnomAD v4
8g.143916571A>TCA372475827PLECc.13382T>A (p.Val4461Glu)
c.13301T>A (p.Val4434Glu)
c.12968T>A (p.Val4323Glu)
c.13181T>A (p.Val4394Glu)
c.13250T>A (p.Val4417Glu)
c.9950T>A (p.Val3317Glu)
c.13661T>A (p.Val4554Glu)
c.13184T>A (p.Val4395Glu)
c.13208T>A (p.Val4403Glu)
c.13262T>A (p.Val4421Glu)
c.13154T>A (p.Val4385Glu)
c.13331T>A (p.Val4444Glu)
c.13319T>A (p.Val4440Glu)
c.13676T>A (p.Val4559Glu)
c.13277T>A (p.Val4426Glu)
c.13265T>A (p.Val4422Glu)
c.13223T>A (p.Val4408Glu)
c.13199T>A (p.Val4400Glu)
c.13169T>A (p.Val4390Glu)
c.13346T>A (p.Val4449Glu)
c.13196T>A (p.Val4399Glu)
c.9896T>A (p.Val3299Glu)
8g.143916572C>ACA372475831PLECc.13381G>T (p.Val4461Leu)
c.13300G>T (p.Val4434Leu)
c.12967G>T (p.Val4323Leu)
c.13180G>T (p.Val4394Leu)
c.13249G>T (p.Val4417Leu)
c.9949G>T (p.Val3317Leu)
c.13660G>T (p.Val4554Leu)
c.13183G>T (p.Val4395Leu)
c.13207G>T (p.Val4403Leu)
c.13261G>T (p.Val4421Leu)
c.13153G>T (p.Val4385Leu)
c.13330G>T (p.Val4444Leu)
c.13318G>T (p.Val4440Leu)
c.13675G>T (p.Val4559Leu)
c.13276G>T (p.Val4426Leu)
c.13264G>T (p.Val4422Leu)
c.13222G>T (p.Val4408Leu)
c.13198G>T (p.Val4400Leu)
c.13168G>T (p.Val4390Leu)
c.13345G>T (p.Val4449Leu)
c.13195G>T (p.Val4399Leu)
c.9895G>T (p.Val3299Leu)
8g.143916572C>GCA372475832PLECc.13381G>C (p.Val4461Leu)
c.13300G>C (p.Val4434Leu)
c.12967G>C (p.Val4323Leu)
c.13180G>C (p.Val4394Leu)
c.13249G>C (p.Val4417Leu)
c.9949G>C (p.Val3317Leu)
c.13660G>C (p.Val4554Leu)
c.13183G>C (p.Val4395Leu)
c.13207G>C (p.Val4403Leu)
c.13261G>C (p.Val4421Leu)
c.13153G>C (p.Val4385Leu)
c.13330G>C (p.Val4444Leu)
c.13318G>C (p.Val4440Leu)
c.13675G>C (p.Val4559Leu)
c.13276G>C (p.Val4426Leu)
c.13264G>C (p.Val4422Leu)
c.13222G>C (p.Val4408Leu)
c.13198G>C (p.Val4400Leu)
c.13168G>C (p.Val4390Leu)
c.13345G>C (p.Val4449Leu)
c.13195G>C (p.Val4399Leu)
c.9895G>C (p.Val3299Leu)
 gnomAD v4
8g.143916572C>TCA372475834PLECc.13381G>A (p.Val4461Met)
c.13300G>A (p.Val4434Met)
c.12967G>A (p.Val4323Met)
c.13180G>A (p.Val4394Met)
c.13249G>A (p.Val4417Met)
c.9949G>A (p.Val3317Met)
c.13660G>A (p.Val4554Met)
c.13183G>A (p.Val4395Met)
c.13207G>A (p.Val4403Met)
c.13261G>A (p.Val4421Met)
c.13153G>A (p.Val4385Met)
c.13330G>A (p.Val4444Met)
c.13318G>A (p.Val4440Met)
c.13675G>A (p.Val4559Met)
c.13276G>A (p.Val4426Met)
c.13264G>A (p.Val4422Met)
c.13222G>A (p.Val4408Met)
c.13198G>A (p.Val4400Met)
c.13168G>A (p.Val4390Met)
c.13345G>A (p.Val4449Met)
c.13195G>A (p.Val4399Met)
c.9895G>A (p.Val3299Met)
8g.143916573C>ACA463525697PLECc.13380G>T (p.Thr4460=)
c.13299G>T (p.Thr4433=)
c.12966G>T (p.Thr4322=)
c.13179G>T (p.Thr4393=)
c.13248G>T (p.Thr4416=)
c.9948G>T (p.Thr3316=)
c.13659G>T (p.Thr4553=)
c.13182G>T (p.Thr4394=)
c.13206G>T (p.Thr4402=)
c.13260G>T (p.Thr4420=)
c.13152G>T (p.Thr4384=)
c.13329G>T (p.Thr4443=)
c.13317G>T (p.Thr4439=)
c.13674G>T (p.Thr4558=)
c.13275G>T (p.Thr4425=)
c.13263G>T (p.Thr4421=)
c.13221G>T (p.Thr4407=)
c.13197G>T (p.Thr4399=)
c.13167G>T (p.Thr4389=)
c.13344G>T (p.Thr4448=)
c.13194G>T (p.Thr4398=)
c.9894G>T (p.Thr3298=)
 gnomAD v4
8g.143916573C=CA1826037409PLECc.13380G= (p.Thr4460=)
c.13299G= (p.Thr4433=)
c.12966G= (p.Thr4322=)
c.13179G= (p.Thr4393=)
c.13248G= (p.Thr4416=)
c.9948G= (p.Thr3316=)
c.13659G= (p.Thr4553=)
c.13182G= (p.Thr4394=)
c.13206G= (p.Thr4402=)
c.13260G= (p.Thr4420=)
c.13152G= (p.Thr4384=)
c.13329G= (p.Thr4443=)
c.13317G= (p.Thr4439=)
c.13674G= (p.Thr4558=)
c.13275G= (p.Thr4425=)
c.13263G= (p.Thr4421=)
c.13221G= (p.Thr4407=)
c.13197G= (p.Thr4399=)
c.13167G= (p.Thr4389=)
c.13344G= (p.Thr4448=)
c.13194G= (p.Thr4398=)
c.9894G= (p.Thr3298=)
8g.143916573C>GCA463525698PLECc.13380G>C (p.Thr4460=)
c.13299G>C (p.Thr4433=)
c.12966G>C (p.Thr4322=)
c.13179G>C (p.Thr4393=)
c.13248G>C (p.Thr4416=)
c.9948G>C (p.Thr3316=)
c.13659G>C (p.Thr4553=)
c.13182G>C (p.Thr4394=)
c.13206G>C (p.Thr4402=)
c.13260G>C (p.Thr4420=)
c.13152G>C (p.Thr4384=)
c.13329G>C (p.Thr4443=)
c.13317G>C (p.Thr4439=)
c.13674G>C (p.Thr4558=)
c.13275G>C (p.Thr4425=)
c.13263G>C (p.Thr4421=)
c.13221G>C (p.Thr4407=)
c.13197G>C (p.Thr4399=)
c.13167G>C (p.Thr4389=)
c.13344G>C (p.Thr4448=)
c.13194G>C (p.Thr4398=)
c.9894G>C (p.Thr3298=)
 gnomAD v4
8g.143916573C>TCA4923868PLECc.13380G>A (p.Thr4460=)
c.13299G>A (p.Thr4433=)
c.12966G>A (p.Thr4322=)
c.13179G>A (p.Thr4393=)
c.13248G>A (p.Thr4416=)
c.9948G>A (p.Thr3316=)
c.13659G>A (p.Thr4553=)
c.13182G>A (p.Thr4394=)
c.13206G>A (p.Thr4402=)
c.13260G>A (p.Thr4420=)
c.13152G>A (p.Thr4384=)
c.13329G>A (p.Thr4443=)
c.13317G>A (p.Thr4439=)
c.13674G>A (p.Thr4558=)
c.13275G>A (p.Thr4425=)
c.13263G>A (p.Thr4421=)
c.13221G>A (p.Thr4407=)
c.13197G>A (p.Thr4399=)
c.13167G>A (p.Thr4389=)
c.13344G>A (p.Thr4448=)
c.13194G>A (p.Thr4398=)
c.9894G>A (p.Thr3298=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916574G>ACA4923869PLECc.13379C>T (p.Thr4460Met)
c.13298C>T (p.Thr4433Met)
c.12965C>T (p.Thr4322Met)
c.13178C>T (p.Thr4393Met)
c.13247C>T (p.Thr4416Met)
c.9947C>T (p.Thr3316Met)
c.13658C>T (p.Thr4553Met)
c.13181C>T (p.Thr4394Met)
c.13205C>T (p.Thr4402Met)
c.13259C>T (p.Thr4420Met)
c.13151C>T (p.Thr4384Met)
c.13328C>T (p.Thr4443Met)
c.13316C>T (p.Thr4439Met)
c.13673C>T (p.Thr4558Met)
c.13274C>T (p.Thr4425Met)
c.13262C>T (p.Thr4421Met)
c.13220C>T (p.Thr4407Met)
c.13196C>T (p.Thr4399Met)
c.13166C>T (p.Thr4389Met)
c.13343C>T (p.Thr4448Met)
c.13193C>T (p.Thr4398Met)
c.9893C>T (p.Thr3298Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916574G>CCA372475837PLECc.13379C>G (p.Thr4460Arg)
c.13298C>G (p.Thr4433Arg)
c.12965C>G (p.Thr4322Arg)
c.13178C>G (p.Thr4393Arg)
c.13247C>G (p.Thr4416Arg)
c.9947C>G (p.Thr3316Arg)
c.13658C>G (p.Thr4553Arg)
c.13181C>G (p.Thr4394Arg)
c.13205C>G (p.Thr4402Arg)
c.13259C>G (p.Thr4420Arg)
c.13151C>G (p.Thr4384Arg)
c.13328C>G (p.Thr4443Arg)
c.13316C>G (p.Thr4439Arg)
c.13673C>G (p.Thr4558Arg)
c.13274C>G (p.Thr4425Arg)
c.13262C>G (p.Thr4421Arg)
c.13220C>G (p.Thr4407Arg)
c.13196C>G (p.Thr4399Arg)
c.13166C>G (p.Thr4389Arg)
c.13343C>G (p.Thr4448Arg)
c.13193C>G (p.Thr4398Arg)
c.9893C>G (p.Thr3298Arg)
 gnomAD v4
8g.143916574G=CA1826037411PLECc.13379C= (p.Thr4460=)
c.13298C= (p.Thr4433=)
c.12965C= (p.Thr4322=)
c.13178C= (p.Thr4393=)
c.13247C= (p.Thr4416=)
c.9947C= (p.Thr3316=)
c.13658C= (p.Thr4553=)
c.13181C= (p.Thr4394=)
c.13205C= (p.Thr4402=)
c.13259C= (p.Thr4420=)
c.13151C= (p.Thr4384=)
c.13328C= (p.Thr4443=)
c.13316C= (p.Thr4439=)
c.13673C= (p.Thr4558=)
c.13274C= (p.Thr4425=)
c.13262C= (p.Thr4421=)
c.13220C= (p.Thr4407=)
c.13196C= (p.Thr4399=)
c.13166C= (p.Thr4389=)
c.13343C= (p.Thr4448=)
c.13193C= (p.Thr4398=)
c.9893C= (p.Thr3298=)
8g.143916574G>TCA372475839PLECc.13379C>A (p.Thr4460Lys)
c.13298C>A (p.Thr4433Lys)
c.12965C>A (p.Thr4322Lys)
c.13178C>A (p.Thr4393Lys)
c.13247C>A (p.Thr4416Lys)
c.9947C>A (p.Thr3316Lys)
c.13658C>A (p.Thr4553Lys)
c.13181C>A (p.Thr4394Lys)
c.13205C>A (p.Thr4402Lys)
c.13259C>A (p.Thr4420Lys)
c.13151C>A (p.Thr4384Lys)
c.13328C>A (p.Thr4443Lys)
c.13316C>A (p.Thr4439Lys)
c.13673C>A (p.Thr4558Lys)
c.13274C>A (p.Thr4425Lys)
c.13262C>A (p.Thr4421Lys)
c.13220C>A (p.Thr4407Lys)
c.13196C>A (p.Thr4399Lys)
c.13166C>A (p.Thr4389Lys)
c.13343C>A (p.Thr4448Lys)
c.13193C>A (p.Thr4398Lys)
c.9893C>A (p.Thr3298Lys)
 dbSNP
8g.143916575T>ACA372475841PLECc.13378A>T (p.Thr4460Ser)
c.13297A>T (p.Thr4433Ser)
c.12964A>T (p.Thr4322Ser)
c.13177A>T (p.Thr4393Ser)
c.13246A>T (p.Thr4416Ser)
c.9946A>T (p.Thr3316Ser)
c.13657A>T (p.Thr4553Ser)
c.13180A>T (p.Thr4394Ser)
c.13204A>T (p.Thr4402Ser)
c.13258A>T (p.Thr4420Ser)
c.13150A>T (p.Thr4384Ser)
c.13327A>T (p.Thr4443Ser)
c.13315A>T (p.Thr4439Ser)
c.13672A>T (p.Thr4558Ser)
c.13273A>T (p.Thr4425Ser)
c.13261A>T (p.Thr4421Ser)
c.13219A>T (p.Thr4407Ser)
c.13195A>T (p.Thr4399Ser)
c.13165A>T (p.Thr4389Ser)
c.13342A>T (p.Thr4448Ser)
c.13192A>T (p.Thr4398Ser)
c.9892A>T (p.Thr3298Ser)
8g.143916575T>CCA372475843PLECc.13378A>G (p.Thr4460Ala)
c.13297A>G (p.Thr4433Ala)
c.12964A>G (p.Thr4322Ala)
c.13177A>G (p.Thr4393Ala)
c.13246A>G (p.Thr4416Ala)
c.9946A>G (p.Thr3316Ala)
c.13657A>G (p.Thr4553Ala)
c.13180A>G (p.Thr4394Ala)
c.13204A>G (p.Thr4402Ala)
c.13258A>G (p.Thr4420Ala)
c.13150A>G (p.Thr4384Ala)
c.13327A>G (p.Thr4443Ala)
c.13315A>G (p.Thr4439Ala)
c.13672A>G (p.Thr4558Ala)
c.13273A>G (p.Thr4425Ala)
c.13261A>G (p.Thr4421Ala)
c.13219A>G (p.Thr4407Ala)
c.13195A>G (p.Thr4399Ala)
c.13165A>G (p.Thr4389Ala)
c.13342A>G (p.Thr4448Ala)
c.13192A>G (p.Thr4398Ala)
c.9892A>G (p.Thr3298Ala)
8g.143916575T>GCA372475845PLECc.13378A>C (p.Thr4460Pro)
c.13297A>C (p.Thr4433Pro)
c.12964A>C (p.Thr4322Pro)
c.13177A>C (p.Thr4393Pro)
c.13246A>C (p.Thr4416Pro)
c.9946A>C (p.Thr3316Pro)
c.13657A>C (p.Thr4553Pro)
c.13180A>C (p.Thr4394Pro)
c.13204A>C (p.Thr4402Pro)
c.13258A>C (p.Thr4420Pro)
c.13150A>C (p.Thr4384Pro)
c.13327A>C (p.Thr4443Pro)
c.13315A>C (p.Thr4439Pro)
c.13672A>C (p.Thr4558Pro)
c.13273A>C (p.Thr4425Pro)
c.13261A>C (p.Thr4421Pro)
c.13219A>C (p.Thr4407Pro)
c.13195A>C (p.Thr4399Pro)
c.13165A>C (p.Thr4389Pro)
c.13342A>C (p.Thr4448Pro)
c.13192A>C (p.Thr4398Pro)
c.9892A>C (p.Thr3298Pro)
8g.143916576G>ACA463525700PLECc.13377C>T (p.Gly4459=)
c.13296C>T (p.Gly4432=)
c.12963C>T (p.Gly4321=)
c.13176C>T (p.Gly4392=)
c.13245C>T (p.Gly4415=)
c.9945C>T (p.Gly3315=)
c.13656C>T (p.Gly4552=)
c.13179C>T (p.Gly4393=)
c.13203C>T (p.Gly4401=)
c.13257C>T (p.Gly4419=)
c.13149C>T (p.Gly4383=)
c.13326C>T (p.Gly4442=)
c.13314C>T (p.Gly4438=)
c.13671C>T (p.Gly4557=)
c.13272C>T (p.Gly4424=)
c.13260C>T (p.Gly4420=)
c.13218C>T (p.Gly4406=)
c.13194C>T (p.Gly4398=)
c.13164C>T (p.Gly4388=)
c.13341C>T (p.Gly4447=)
c.13191C>T (p.Gly4397=)
c.9891C>T (p.Gly3297=)
8g.143916576G>CCA463525699PLECc.13377C>G (p.Gly4459=)
c.13296C>G (p.Gly4432=)
c.12963C>G (p.Gly4321=)
c.13176C>G (p.Gly4392=)
c.13245C>G (p.Gly4415=)
c.9945C>G (p.Gly3315=)
c.13656C>G (p.Gly4552=)
c.13179C>G (p.Gly4393=)
c.13203C>G (p.Gly4401=)
c.13257C>G (p.Gly4419=)
c.13149C>G (p.Gly4383=)
c.13326C>G (p.Gly4442=)
c.13314C>G (p.Gly4438=)
c.13671C>G (p.Gly4557=)
c.13272C>G (p.Gly4424=)
c.13260C>G (p.Gly4420=)
c.13218C>G (p.Gly4406=)
c.13194C>G (p.Gly4398=)
c.13164C>G (p.Gly4388=)
c.13341C>G (p.Gly4447=)
c.13191C>G (p.Gly4397=)
c.9891C>G (p.Gly3297=)
8g.143916576G=CA1826037415PLECc.13377C= (p.Gly4459=)
c.13296C= (p.Gly4432=)
c.12963C= (p.Gly4321=)
c.13176C= (p.Gly4392=)
c.13245C= (p.Gly4415=)
c.9945C= (p.Gly3315=)
c.13656C= (p.Gly4552=)
c.13179C= (p.Gly4393=)
c.13203C= (p.Gly4401=)
c.13257C= (p.Gly4419=)
c.13149C= (p.Gly4383=)
c.13326C= (p.Gly4442=)
c.13314C= (p.Gly4438=)
c.13671C= (p.Gly4557=)
c.13272C= (p.Gly4424=)
c.13260C= (p.Gly4420=)
c.13218C= (p.Gly4406=)
c.13194C= (p.Gly4398=)
c.13164C= (p.Gly4388=)
c.13341C= (p.Gly4447=)
c.13191C= (p.Gly4397=)
c.9891C= (p.Gly3297=)
8g.143916576G>TCA4923870PLECc.13377C>A (p.Gly4459=)
c.13296C>A (p.Gly4432=)
c.12963C>A (p.Gly4321=)
c.13176C>A (p.Gly4392=)
c.13245C>A (p.Gly4415=)
c.9945C>A (p.Gly3315=)
c.13656C>A (p.Gly4552=)
c.13179C>A (p.Gly4393=)
c.13203C>A (p.Gly4401=)
c.13257C>A (p.Gly4419=)
c.13149C>A (p.Gly4383=)
c.13326C>A (p.Gly4442=)
c.13314C>A (p.Gly4438=)
c.13671C>A (p.Gly4557=)
c.13272C>A (p.Gly4424=)
c.13260C>A (p.Gly4420=)
c.13218C>A (p.Gly4406=)
c.13194C>A (p.Gly4398=)
c.13164C>A (p.Gly4388=)
c.13341C>A (p.Gly4447=)
c.13191C>A (p.Gly4397=)
c.9891C>A (p.Gly3297=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916577C>ACA372475849PLECc.13376G>T (p.Gly4459Val)
c.13295G>T (p.Gly4432Val)
c.12962G>T (p.Gly4321Val)
c.13175G>T (p.Gly4392Val)
c.13244G>T (p.Gly4415Val)
c.9944G>T (p.Gly3315Val)
c.13655G>T (p.Gly4552Val)
c.13178G>T (p.Gly4393Val)
c.13202G>T (p.Gly4401Val)
c.13256G>T (p.Gly4419Val)
c.13148G>T (p.Gly4383Val)
c.13325G>T (p.Gly4442Val)
c.13313G>T (p.Gly4438Val)
c.13670G>T (p.Gly4557Val)
c.13271G>T (p.Gly4424Val)
c.13259G>T (p.Gly4420Val)
c.13217G>T (p.Gly4406Val)
c.13193G>T (p.Gly4398Val)
c.13163G>T (p.Gly4388Val)
c.13340G>T (p.Gly4447Val)
c.13190G>T (p.Gly4397Val)
c.9890G>T (p.Gly3297Val)
8g.143916577C>GCA372475847PLECc.13376G>C (p.Gly4459Ala)
c.13295G>C (p.Gly4432Ala)
c.12962G>C (p.Gly4321Ala)
c.13175G>C (p.Gly4392Ala)
c.13244G>C (p.Gly4415Ala)
c.9944G>C (p.Gly3315Ala)
c.13655G>C (p.Gly4552Ala)
c.13178G>C (p.Gly4393Ala)
c.13202G>C (p.Gly4401Ala)
c.13256G>C (p.Gly4419Ala)
c.13148G>C (p.Gly4383Ala)
c.13325G>C (p.Gly4442Ala)
c.13313G>C (p.Gly4438Ala)
c.13670G>C (p.Gly4557Ala)
c.13271G>C (p.Gly4424Ala)
c.13259G>C (p.Gly4420Ala)
c.13217G>C (p.Gly4406Ala)
c.13193G>C (p.Gly4398Ala)
c.13163G>C (p.Gly4388Ala)
c.13340G>C (p.Gly4447Ala)
c.13190G>C (p.Gly4397Ala)
c.9890G>C (p.Gly3297Ala)
8g.143916577C>TCA372475848PLECc.13376G>A (p.Gly4459Asp)
c.13295G>A (p.Gly4432Asp)
c.12962G>A (p.Gly4321Asp)
c.13175G>A (p.Gly4392Asp)
c.13244G>A (p.Gly4415Asp)
c.9944G>A (p.Gly3315Asp)
c.13655G>A (p.Gly4552Asp)
c.13178G>A (p.Gly4393Asp)
c.13202G>A (p.Gly4401Asp)
c.13256G>A (p.Gly4419Asp)
c.13148G>A (p.Gly4383Asp)
c.13325G>A (p.Gly4442Asp)
c.13313G>A (p.Gly4438Asp)
c.13670G>A (p.Gly4557Asp)
c.13271G>A (p.Gly4424Asp)
c.13259G>A (p.Gly4420Asp)
c.13217G>A (p.Gly4406Asp)
c.13193G>A (p.Gly4398Asp)
c.13163G>A (p.Gly4388Asp)
c.13340G>A (p.Gly4447Asp)
c.13190G>A (p.Gly4397Asp)
c.9890G>A (p.Gly3297Asp)
 gnomAD v4
8g.143916578C>ACA372475851PLECc.13375G>T (p.Gly4459Cys)
c.13294G>T (p.Gly4432Cys)
c.12961G>T (p.Gly4321Cys)
c.13174G>T (p.Gly4392Cys)
c.13243G>T (p.Gly4415Cys)
c.9943G>T (p.Gly3315Cys)
c.13654G>T (p.Gly4552Cys)
c.13177G>T (p.Gly4393Cys)
c.13201G>T (p.Gly4401Cys)
c.13255G>T (p.Gly4419Cys)
c.13147G>T (p.Gly4383Cys)
c.13324G>T (p.Gly4442Cys)
c.13312G>T (p.Gly4438Cys)
c.13669G>T (p.Gly4557Cys)
c.13270G>T (p.Gly4424Cys)
c.13258G>T (p.Gly4420Cys)
c.13216G>T (p.Gly4406Cys)
c.13192G>T (p.Gly4398Cys)
c.13162G>T (p.Gly4388Cys)
c.13339G>T (p.Gly4447Cys)
c.13189G>T (p.Gly4397Cys)
c.9889G>T (p.Gly3297Cys)
 gnomAD v4 COSMIC COSMIC COSMIC
8g.143916578C=CA1826037420PLECc.13375G= (p.Gly4459=)
c.13294G= (p.Gly4432=)
c.12961G= (p.Gly4321=)
c.13174G= (p.Gly4392=)
c.13243G= (p.Gly4415=)
c.9943G= (p.Gly3315=)
c.13654G= (p.Gly4552=)
c.13177G= (p.Gly4393=)
c.13201G= (p.Gly4401=)
c.13255G= (p.Gly4419=)
c.13147G= (p.Gly4383=)
c.13324G= (p.Gly4442=)
c.13312G= (p.Gly4438=)
c.13669G= (p.Gly4557=)
c.13270G= (p.Gly4424=)
c.13258G= (p.Gly4420=)
c.13216G= (p.Gly4406=)
c.13192G= (p.Gly4398=)
c.13162G= (p.Gly4388=)
c.13339G= (p.Gly4447=)
c.13189G= (p.Gly4397=)
c.9889G= (p.Gly3297=)
8g.143916578C>GCA372475852PLECc.13375G>C (p.Gly4459Arg)
c.13294G>C (p.Gly4432Arg)
c.12961G>C (p.Gly4321Arg)
c.13174G>C (p.Gly4392Arg)
c.13243G>C (p.Gly4415Arg)
c.9943G>C (p.Gly3315Arg)
c.13654G>C (p.Gly4552Arg)
c.13177G>C (p.Gly4393Arg)
c.13201G>C (p.Gly4401Arg)
c.13255G>C (p.Gly4419Arg)
c.13147G>C (p.Gly4383Arg)
c.13324G>C (p.Gly4442Arg)
c.13312G>C (p.Gly4438Arg)
c.13669G>C (p.Gly4557Arg)
c.13270G>C (p.Gly4424Arg)
c.13258G>C (p.Gly4420Arg)
c.13216G>C (p.Gly4406Arg)
c.13192G>C (p.Gly4398Arg)
c.13162G>C (p.Gly4388Arg)
c.13339G>C (p.Gly4447Arg)
c.13189G>C (p.Gly4397Arg)
c.9889G>C (p.Gly3297Arg)
8g.143916578C>TCA4923871PLECc.13375G>A (p.Gly4459Ser)
c.13294G>A (p.Gly4432Ser)
c.12961G>A (p.Gly4321Ser)
c.13174G>A (p.Gly4392Ser)
c.13243G>A (p.Gly4415Ser)
c.9943G>A (p.Gly3315Ser)
c.13654G>A (p.Gly4552Ser)
c.13177G>A (p.Gly4393Ser)
c.13201G>A (p.Gly4401Ser)
c.13255G>A (p.Gly4419Ser)
c.13147G>A (p.Gly4383Ser)
c.13324G>A (p.Gly4442Ser)
c.13312G>A (p.Gly4438Ser)
c.13669G>A (p.Gly4557Ser)
c.13270G>A (p.Gly4424Ser)
c.13258G>A (p.Gly4420Ser)
c.13216G>A (p.Gly4406Ser)
c.13192G>A (p.Gly4398Ser)
c.13162G>A (p.Gly4388Ser)
c.13339G>A (p.Gly4447Ser)
c.13189G>A (p.Gly4397Ser)
c.9889G>A (p.Gly3297Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916579G>ACA4923872PLECc.13374C>T (p.Arg4458=)
c.13293C>T (p.Arg4431=)
c.12960C>T (p.Arg4320=)
c.13173C>T (p.Arg4391=)
c.13242C>T (p.Arg4414=)
c.9942C>T (p.Arg3314=)
c.13653C>T (p.Arg4551=)
c.13176C>T (p.Arg4392=)
c.13200C>T (p.Arg4400=)
c.13254C>T (p.Arg4418=)
c.13146C>T (p.Arg4382=)
c.13323C>T (p.Arg4441=)
c.13311C>T (p.Arg4437=)
c.13668C>T (p.Arg4556=)
c.13269C>T (p.Arg4423=)
c.13257C>T (p.Arg4419=)
c.13215C>T (p.Arg4405=)
c.13191C>T (p.Arg4397=)
c.13161C>T (p.Arg4387=)
c.13338C>T (p.Arg4446=)
c.13188C>T (p.Arg4396=)
c.9888C>T (p.Arg3296=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916579G>CCA463525701PLECc.13374C>G (p.Arg4458=)
c.13293C>G (p.Arg4431=)
c.12960C>G (p.Arg4320=)
c.13173C>G (p.Arg4391=)
c.13242C>G (p.Arg4414=)
c.9942C>G (p.Arg3314=)
c.13653C>G (p.Arg4551=)
c.13176C>G (p.Arg4392=)
c.13200C>G (p.Arg4400=)
c.13254C>G (p.Arg4418=)
c.13146C>G (p.Arg4382=)
c.13323C>G (p.Arg4441=)
c.13311C>G (p.Arg4437=)
c.13668C>G (p.Arg4556=)
c.13269C>G (p.Arg4423=)
c.13257C>G (p.Arg4419=)
c.13215C>G (p.Arg4405=)
c.13191C>G (p.Arg4397=)
c.13161C>G (p.Arg4387=)
c.13338C>G (p.Arg4446=)
c.13188C>G (p.Arg4396=)
c.9888C>G (p.Arg3296=)
8g.143916579G=CA1826037424PLECc.13374C= (p.Arg4458=)
c.13293C= (p.Arg4431=)
c.12960C= (p.Arg4320=)
c.13173C= (p.Arg4391=)
c.13242C= (p.Arg4414=)
c.9942C= (p.Arg3314=)
c.13653C= (p.Arg4551=)
c.13176C= (p.Arg4392=)
c.13200C= (p.Arg4400=)
c.13254C= (p.Arg4418=)
c.13146C= (p.Arg4382=)
c.13323C= (p.Arg4441=)
c.13311C= (p.Arg4437=)
c.13668C= (p.Arg4556=)
c.13269C= (p.Arg4423=)
c.13257C= (p.Arg4419=)
c.13215C= (p.Arg4405=)
c.13191C= (p.Arg4397=)
c.13161C= (p.Arg4387=)
c.13338C= (p.Arg4446=)
c.13188C= (p.Arg4396=)
c.9888C= (p.Arg3296=)
8g.143916579G>TCA463525702PLECc.13374C>A (p.Arg4458=)
c.13293C>A (p.Arg4431=)
c.12960C>A (p.Arg4320=)
c.13173C>A (p.Arg4391=)
c.13242C>A (p.Arg4414=)
c.9942C>A (p.Arg3314=)
c.13653C>A (p.Arg4551=)
c.13176C>A (p.Arg4392=)
c.13200C>A (p.Arg4400=)
c.13254C>A (p.Arg4418=)
c.13146C>A (p.Arg4382=)
c.13323C>A (p.Arg4441=)
c.13311C>A (p.Arg4437=)
c.13668C>A (p.Arg4556=)
c.13269C>A (p.Arg4423=)
c.13257C>A (p.Arg4419=)
c.13215C>A (p.Arg4405=)
c.13191C>A (p.Arg4397=)
c.13161C>A (p.Arg4387=)
c.13338C>A (p.Arg4446=)
c.13188C>A (p.Arg4396=)
c.9888C>A (p.Arg3296=)
8g.143916580C>ACA372475854PLECc.13373G>T (p.Arg4458Leu)
c.13292G>T (p.Arg4431Leu)
c.12959G>T (p.Arg4320Leu)
c.13172G>T (p.Arg4391Leu)
c.13241G>T (p.Arg4414Leu)
c.9941G>T (p.Arg3314Leu)
c.13652G>T (p.Arg4551Leu)
c.13175G>T (p.Arg4392Leu)
c.13199G>T (p.Arg4400Leu)
c.13253G>T (p.Arg4418Leu)
c.13145G>T (p.Arg4382Leu)
c.13322G>T (p.Arg4441Leu)
c.13310G>T (p.Arg4437Leu)
c.13667G>T (p.Arg4556Leu)
c.13268G>T (p.Arg4423Leu)
c.13256G>T (p.Arg4419Leu)
c.13214G>T (p.Arg4405Leu)
c.13190G>T (p.Arg4397Leu)
c.13160G>T (p.Arg4387Leu)
c.13337G>T (p.Arg4446Leu)
c.13187G>T (p.Arg4396Leu)
c.9887G>T (p.Arg3296Leu)
8g.143916580C=CA1826037427PLECc.13373G= (p.Arg4458=)
c.13292G= (p.Arg4431=)
c.12959G= (p.Arg4320=)
c.13172G= (p.Arg4391=)
c.13241G= (p.Arg4414=)
c.9941G= (p.Arg3314=)
c.13652G= (p.Arg4551=)
c.13175G= (p.Arg4392=)
c.13199G= (p.Arg4400=)
c.13253G= (p.Arg4418=)
c.13145G= (p.Arg4382=)
c.13322G= (p.Arg4441=)
c.13310G= (p.Arg4437=)
c.13667G= (p.Arg4556=)
c.13268G= (p.Arg4423=)
c.13256G= (p.Arg4419=)
c.13214G= (p.Arg4405=)
c.13190G= (p.Arg4397=)
c.13160G= (p.Arg4387=)
c.13337G= (p.Arg4446=)
c.13187G= (p.Arg4396=)
c.9887G= (p.Arg3296=)
8g.143916580C>GCA372475856PLECc.13373G>C (p.Arg4458Pro)
c.13292G>C (p.Arg4431Pro)
c.12959G>C (p.Arg4320Pro)
c.13172G>C (p.Arg4391Pro)
c.13241G>C (p.Arg4414Pro)
c.9941G>C (p.Arg3314Pro)
c.13652G>C (p.Arg4551Pro)
c.13175G>C (p.Arg4392Pro)
c.13199G>C (p.Arg4400Pro)
c.13253G>C (p.Arg4418Pro)
c.13145G>C (p.Arg4382Pro)
c.13322G>C (p.Arg4441Pro)
c.13310G>C (p.Arg4437Pro)
c.13667G>C (p.Arg4556Pro)
c.13268G>C (p.Arg4423Pro)
c.13256G>C (p.Arg4419Pro)
c.13214G>C (p.Arg4405Pro)
c.13190G>C (p.Arg4397Pro)
c.13160G>C (p.Arg4387Pro)
c.13337G>C (p.Arg4446Pro)
c.13187G>C (p.Arg4396Pro)
c.9887G>C (p.Arg3296Pro)
8g.143916580C>TCA4923873PLECc.13373G>A (p.Arg4458His)
c.13292G>A (p.Arg4431His)
c.12959G>A (p.Arg4320His)
c.13172G>A (p.Arg4391His)
c.13241G>A (p.Arg4414His)
c.9941G>A (p.Arg3314His)
c.13652G>A (p.Arg4551His)
c.13175G>A (p.Arg4392His)
c.13199G>A (p.Arg4400His)
c.13253G>A (p.Arg4418His)
c.13145G>A (p.Arg4382His)
c.13322G>A (p.Arg4441His)
c.13310G>A (p.Arg4437His)
c.13667G>A (p.Arg4556His)
c.13268G>A (p.Arg4423His)
c.13256G>A (p.Arg4419His)
c.13214G>A (p.Arg4405His)
c.13190G>A (p.Arg4397His)
c.13160G>A (p.Arg4387His)
c.13337G>A (p.Arg4446His)
c.13187G>A (p.Arg4396His)
c.9887G>A (p.Arg3296His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916581G>ACA4923874PLECc.13372C>T (p.Arg4458Cys)
c.13291C>T (p.Arg4431Cys)
c.12958C>T (p.Arg4320Cys)
c.13171C>T (p.Arg4391Cys)
c.13240C>T (p.Arg4414Cys)
c.9940C>T (p.Arg3314Cys)
c.13651C>T (p.Arg4551Cys)
c.13174C>T (p.Arg4392Cys)
c.13198C>T (p.Arg4400Cys)
c.13252C>T (p.Arg4418Cys)
c.13144C>T (p.Arg4382Cys)
c.13321C>T (p.Arg4441Cys)
c.13309C>T (p.Arg4437Cys)
c.13666C>T (p.Arg4556Cys)
c.13267C>T (p.Arg4423Cys)
c.13255C>T (p.Arg4419Cys)
c.13213C>T (p.Arg4405Cys)
c.13189C>T (p.Arg4397Cys)
c.13159C>T (p.Arg4387Cys)
c.13336C>T (p.Arg4446Cys)
c.13186C>T (p.Arg4396Cys)
c.9886C>T (p.Arg3296Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916581G>CCA372475858PLECc.13372C>G (p.Arg4458Gly)
c.13291C>G (p.Arg4431Gly)
c.12958C>G (p.Arg4320Gly)
c.13171C>G (p.Arg4391Gly)
c.13240C>G (p.Arg4414Gly)
c.9940C>G (p.Arg3314Gly)
c.13651C>G (p.Arg4551Gly)
c.13174C>G (p.Arg4392Gly)
c.13198C>G (p.Arg4400Gly)
c.13252C>G (p.Arg4418Gly)
c.13144C>G (p.Arg4382Gly)
c.13321C>G (p.Arg4441Gly)
c.13309C>G (p.Arg4437Gly)
c.13666C>G (p.Arg4556Gly)
c.13267C>G (p.Arg4423Gly)
c.13255C>G (p.Arg4419Gly)
c.13213C>G (p.Arg4405Gly)
c.13189C>G (p.Arg4397Gly)
c.13159C>G (p.Arg4387Gly)
c.13336C>G (p.Arg4446Gly)
c.13186C>G (p.Arg4396Gly)
c.9886C>G (p.Arg3296Gly)
8g.143916581G=CA1826037431PLECc.13372C= (p.Arg4458=)
c.13291C= (p.Arg4431=)
c.12958C= (p.Arg4320=)
c.13171C= (p.Arg4391=)
c.13240C= (p.Arg4414=)
c.9940C= (p.Arg3314=)
c.13651C= (p.Arg4551=)
c.13174C= (p.Arg4392=)
c.13198C= (p.Arg4400=)
c.13252C= (p.Arg4418=)
c.13144C= (p.Arg4382=)
c.13321C= (p.Arg4441=)
c.13309C= (p.Arg4437=)
c.13666C= (p.Arg4556=)
c.13267C= (p.Arg4423=)
c.13255C= (p.Arg4419=)
c.13213C= (p.Arg4405=)
c.13189C= (p.Arg4397=)
c.13159C= (p.Arg4387=)
c.13336C= (p.Arg4446=)
c.13186C= (p.Arg4396=)
c.9886C= (p.Arg3296=)
8g.143916581G>TCA372475859PLECc.13372C>A (p.Arg4458Ser)
c.13291C>A (p.Arg4431Ser)
c.12958C>A (p.Arg4320Ser)
c.13171C>A (p.Arg4391Ser)
c.13240C>A (p.Arg4414Ser)
c.9940C>A (p.Arg3314Ser)
c.13651C>A (p.Arg4551Ser)
c.13174C>A (p.Arg4392Ser)
c.13198C>A (p.Arg4400Ser)
c.13252C>A (p.Arg4418Ser)
c.13144C>A (p.Arg4382Ser)
c.13321C>A (p.Arg4441Ser)
c.13309C>A (p.Arg4437Ser)
c.13666C>A (p.Arg4556Ser)
c.13267C>A (p.Arg4423Ser)
c.13255C>A (p.Arg4419Ser)
c.13213C>A (p.Arg4405Ser)
c.13189C>A (p.Arg4397Ser)
c.13159C>A (p.Arg4387Ser)
c.13336C>A (p.Arg4446Ser)
c.13186C>A (p.Arg4396Ser)
c.9886C>A (p.Arg3296Ser)
8g.143916584_143916625delCA2689011288PLECc.13331_13372del (p.Pro4444_Gln4457del)
c.13250_13291del (p.Pro4417_Gln4430del)
c.12917_12958del (p.Pro4306_Gln4319del)
c.13130_13171del (p.Pro4377_Gln4390del)
c.13199_13240del (p.Pro4400_Gln4413del)
c.9899_9940del (p.Pro3300_Gln3313del)
c.13610_13651del (p.Pro4537_Gln4550del)
c.13133_13174del (p.Pro4378_Gln4391del)
c.13157_13198del (p.Pro4386_Gln4399del)
c.13211_13252del (p.Pro4404_Gln4417del)
c.13103_13144del (p.Pro4368_Gln4381del)
c.13280_13321del (p.Pro4427_Gln4440del)
c.13268_13309del (p.Pro4423_Gln4436del)
c.13625_13666del (p.Pro4542_Gln4555del)
c.13226_13267del (p.Pro4409_Gln4422del)
c.13214_13255del (p.Pro4405_Gln4418del)
c.13172_13213del (p.Pro4391_Gln4404del)
c.13148_13189del (p.Pro4383_Gln4396del)
c.13118_13159del (p.Pro4373_Gln4386del)
c.13295_13336del (p.Pro4432_Gln4445del)
c.13145_13186del (p.Pro4382_Gln4395del)
c.9845_9886del (p.Pro3282_Gln3295del)
 gnomAD v4
8g.143916582C>ACA372475861PLECc.13371G>T (p.Gln4457His)
c.13290G>T (p.Gln4430His)
c.12957G>T (p.Gln4319His)
c.13170G>T (p.Gln4390His)
c.13239G>T (p.Gln4413His)
c.9939G>T (p.Gln3313His)
c.13650G>T (p.Gln4550His)
c.13173G>T (p.Gln4391His)
c.13197G>T (p.Gln4399His)
c.13251G>T (p.Gln4417His)
c.13143G>T (p.Gln4381His)
c.13320G>T (p.Gln4440His)
c.13308G>T (p.Gln4436His)
c.13665G>T (p.Gln4555His)
c.13266G>T (p.Gln4422His)
c.13254G>T (p.Gln4418His)
c.13212G>T (p.Gln4404His)
c.13188G>T (p.Gln4396His)
c.13158G>T (p.Gln4386His)
c.13335G>T (p.Gln4445His)
c.13185G>T (p.Gln4395His)
c.9885G>T (p.Gln3295His)
8g.143916582C>GCA372475863PLECc.13371G>C (p.Gln4457His)
c.13290G>C (p.Gln4430His)
c.12957G>C (p.Gln4319His)
c.13170G>C (p.Gln4390His)
c.13239G>C (p.Gln4413His)
c.9939G>C (p.Gln3313His)
c.13650G>C (p.Gln4550His)
c.13173G>C (p.Gln4391His)
c.13197G>C (p.Gln4399His)
c.13251G>C (p.Gln4417His)
c.13143G>C (p.Gln4381His)
c.13320G>C (p.Gln4440His)
c.13308G>C (p.Gln4436His)
c.13665G>C (p.Gln4555His)
c.13266G>C (p.Gln4422His)
c.13254G>C (p.Gln4418His)
c.13212G>C (p.Gln4404His)
c.13188G>C (p.Gln4396His)
c.13158G>C (p.Gln4386His)
c.13335G>C (p.Gln4445His)
c.13185G>C (p.Gln4395His)
c.9885G>C (p.Gln3295His)
8g.143916582C>TCA463525703PLECc.13371G>A (p.Gln4457=)
c.13290G>A (p.Gln4430=)
c.12957G>A (p.Gln4319=)
c.13170G>A (p.Gln4390=)
c.13239G>A (p.Gln4413=)
c.9939G>A (p.Gln3313=)
c.13650G>A (p.Gln4550=)
c.13173G>A (p.Gln4391=)
c.13197G>A (p.Gln4399=)
c.13251G>A (p.Gln4417=)
c.13143G>A (p.Gln4381=)
c.13320G>A (p.Gln4440=)
c.13308G>A (p.Gln4436=)
c.13665G>A (p.Gln4555=)
c.13266G>A (p.Gln4422=)
c.13254G>A (p.Gln4418=)
c.13212G>A (p.Gln4404=)
c.13188G>A (p.Gln4396=)
c.13158G>A (p.Gln4386=)
c.13335G>A (p.Gln4445=)
c.13185G>A (p.Gln4395=)
c.9885G>A (p.Gln3295=)
 gnomAD v4
8g.143916583T>ACA372475865PLECc.13370A>T (p.Gln4457Leu)
c.13289A>T (p.Gln4430Leu)
c.12956A>T (p.Gln4319Leu)
c.13169A>T (p.Gln4390Leu)
c.13238A>T (p.Gln4413Leu)
c.9938A>T (p.Gln3313Leu)
c.13649A>T (p.Gln4550Leu)
c.13172A>T (p.Gln4391Leu)
c.13196A>T (p.Gln4399Leu)
c.13250A>T (p.Gln4417Leu)
c.13142A>T (p.Gln4381Leu)
c.13319A>T (p.Gln4440Leu)
c.13307A>T (p.Gln4436Leu)
c.13664A>T (p.Gln4555Leu)
c.13265A>T (p.Gln4422Leu)
c.13253A>T (p.Gln4418Leu)
c.13211A>T (p.Gln4404Leu)
c.13187A>T (p.Gln4396Leu)
c.13157A>T (p.Gln4386Leu)
c.13334A>T (p.Gln4445Leu)
c.13184A>T (p.Gln4395Leu)
c.9884A>T (p.Gln3295Leu)
8g.143916583T>CCA372475870PLECc.13370A>G (p.Gln4457Arg)
c.13289A>G (p.Gln4430Arg)
c.12956A>G (p.Gln4319Arg)
c.13169A>G (p.Gln4390Arg)
c.13238A>G (p.Gln4413Arg)
c.9938A>G (p.Gln3313Arg)
c.13649A>G (p.Gln4550Arg)
c.13172A>G (p.Gln4391Arg)
c.13196A>G (p.Gln4399Arg)
c.13250A>G (p.Gln4417Arg)
c.13142A>G (p.Gln4381Arg)
c.13319A>G (p.Gln4440Arg)
c.13307A>G (p.Gln4436Arg)
c.13664A>G (p.Gln4555Arg)
c.13265A>G (p.Gln4422Arg)
c.13253A>G (p.Gln4418Arg)
c.13211A>G (p.Gln4404Arg)
c.13187A>G (p.Gln4396Arg)
c.13157A>G (p.Gln4386Arg)
c.13334A>G (p.Gln4445Arg)
c.13184A>G (p.Gln4395Arg)
c.9884A>G (p.Gln3295Arg)
8g.143916583T>GCA372475864PLECc.13370A>C (p.Gln4457Pro)
c.13289A>C (p.Gln4430Pro)
c.12956A>C (p.Gln4319Pro)
c.13169A>C (p.Gln4390Pro)
c.13238A>C (p.Gln4413Pro)
c.9938A>C (p.Gln3313Pro)
c.13649A>C (p.Gln4550Pro)
c.13172A>C (p.Gln4391Pro)
c.13196A>C (p.Gln4399Pro)
c.13250A>C (p.Gln4417Pro)
c.13142A>C (p.Gln4381Pro)
c.13319A>C (p.Gln4440Pro)
c.13307A>C (p.Gln4436Pro)
c.13664A>C (p.Gln4555Pro)
c.13265A>C (p.Gln4422Pro)
c.13253A>C (p.Gln4418Pro)
c.13211A>C (p.Gln4404Pro)
c.13187A>C (p.Gln4396Pro)
c.13157A>C (p.Gln4386Pro)
c.13334A>C (p.Gln4445Pro)
c.13184A>C (p.Gln4395Pro)
c.9884A>C (p.Gln3295Pro)
8g.143916584G>ACA372475873PLECc.13369C>T (p.Gln4457Ter)
c.13288C>T (p.Gln4430Ter)
c.12955C>T (p.Gln4319Ter)
c.13168C>T (p.Gln4390Ter)
c.13237C>T (p.Gln4413Ter)
c.9937C>T (p.Gln3313Ter)
c.13648C>T (p.Gln4550Ter)
c.13171C>T (p.Gln4391Ter)
c.13195C>T (p.Gln4399Ter)
c.13249C>T (p.Gln4417Ter)
c.13141C>T (p.Gln4381Ter)
c.13318C>T (p.Gln4440Ter)
c.13306C>T (p.Gln4436Ter)
c.13663C>T (p.Gln4555Ter)
c.13264C>T (p.Gln4422Ter)
c.13252C>T (p.Gln4418Ter)
c.13210C>T (p.Gln4404Ter)
c.13186C>T (p.Gln4396Ter)
c.13156C>T (p.Gln4386Ter)
c.13333C>T (p.Gln4445Ter)
c.13183C>T (p.Gln4395Ter)
c.9883C>T (p.Gln3295Ter)
8g.143916584G>CCA372475877PLECc.13369C>G (p.Gln4457Glu)
c.13288C>G (p.Gln4430Glu)
c.12955C>G (p.Gln4319Glu)
c.13168C>G (p.Gln4390Glu)
c.13237C>G (p.Gln4413Glu)
c.9937C>G (p.Gln3313Glu)
c.13648C>G (p.Gln4550Glu)
c.13171C>G (p.Gln4391Glu)
c.13195C>G (p.Gln4399Glu)
c.13249C>G (p.Gln4417Glu)
c.13141C>G (p.Gln4381Glu)
c.13318C>G (p.Gln4440Glu)
c.13306C>G (p.Gln4436Glu)
c.13663C>G (p.Gln4555Glu)
c.13264C>G (p.Gln4422Glu)
c.13252C>G (p.Gln4418Glu)
c.13210C>G (p.Gln4404Glu)
c.13186C>G (p.Gln4396Glu)
c.13156C>G (p.Gln4386Glu)
c.13333C>G (p.Gln4445Glu)
c.13183C>G (p.Gln4395Glu)
c.9883C>G (p.Gln3295Glu)
8g.143916584G>TCA372475875PLECc.13369C>A (p.Gln4457Lys)
c.13288C>A (p.Gln4430Lys)
c.12955C>A (p.Gln4319Lys)
c.13168C>A (p.Gln4390Lys)
c.13237C>A (p.Gln4413Lys)
c.9937C>A (p.Gln3313Lys)
c.13648C>A (p.Gln4550Lys)
c.13171C>A (p.Gln4391Lys)
c.13195C>A (p.Gln4399Lys)
c.13249C>A (p.Gln4417Lys)
c.13141C>A (p.Gln4381Lys)
c.13318C>A (p.Gln4440Lys)
c.13306C>A (p.Gln4436Lys)
c.13663C>A (p.Gln4555Lys)
c.13264C>A (p.Gln4422Lys)
c.13252C>A (p.Gln4418Lys)
c.13210C>A (p.Gln4404Lys)
c.13186C>A (p.Gln4396Lys)
c.13156C>A (p.Gln4386Lys)
c.13333C>A (p.Gln4445Lys)
c.13183C>A (p.Gln4395Lys)
c.9883C>A (p.Gln3295Lys)
8g.143916585C>ACA463525706PLECc.13368G>T (p.Leu4456=)
c.13287G>T (p.Leu4429=)
c.12954G>T (p.Leu4318=)
c.13167G>T (p.Leu4389=)
c.13236G>T (p.Leu4412=)
c.9936G>T (p.Leu3312=)
c.13647G>T (p.Leu4549=)
c.13170G>T (p.Leu4390=)
c.13194G>T (p.Leu4398=)
c.13248G>T (p.Leu4416=)
c.13140G>T (p.Leu4380=)
c.13317G>T (p.Leu4439=)
c.13305G>T (p.Leu4435=)
c.13662G>T (p.Leu4554=)
c.13263G>T (p.Leu4421=)
c.13251G>T (p.Leu4417=)
c.13209G>T (p.Leu4403=)
c.13185G>T (p.Leu4395=)
c.13155G>T (p.Leu4385=)
c.13332G>T (p.Leu4444=)
c.13182G>T (p.Leu4394=)
c.9882G>T (p.Leu3294=)
8g.143916585C>GCA463525704PLECc.13368G>C (p.Leu4456=)
c.13287G>C (p.Leu4429=)
c.12954G>C (p.Leu4318=)
c.13167G>C (p.Leu4389=)
c.13236G>C (p.Leu4412=)
c.9936G>C (p.Leu3312=)
c.13647G>C (p.Leu4549=)
c.13170G>C (p.Leu4390=)
c.13194G>C (p.Leu4398=)
c.13248G>C (p.Leu4416=)
c.13140G>C (p.Leu4380=)
c.13317G>C (p.Leu4439=)
c.13305G>C (p.Leu4435=)
c.13662G>C (p.Leu4554=)
c.13263G>C (p.Leu4421=)
c.13251G>C (p.Leu4417=)
c.13209G>C (p.Leu4403=)
c.13185G>C (p.Leu4395=)
c.13155G>C (p.Leu4385=)
c.13332G>C (p.Leu4444=)
c.13182G>C (p.Leu4394=)
c.9882G>C (p.Leu3294=)
8g.143916585C>TCA463525705PLECc.13368G>A (p.Leu4456=)
c.13287G>A (p.Leu4429=)
c.12954G>A (p.Leu4318=)
c.13167G>A (p.Leu4389=)
c.13236G>A (p.Leu4412=)
c.9936G>A (p.Leu3312=)
c.13647G>A (p.Leu4549=)
c.13170G>A (p.Leu4390=)
c.13194G>A (p.Leu4398=)
c.13248G>A (p.Leu4416=)
c.13140G>A (p.Leu4380=)
c.13317G>A (p.Leu4439=)
c.13305G>A (p.Leu4435=)
c.13662G>A (p.Leu4554=)
c.13263G>A (p.Leu4421=)
c.13251G>A (p.Leu4417=)
c.13209G>A (p.Leu4403=)
c.13185G>A (p.Leu4395=)
c.13155G>A (p.Leu4385=)
c.13332G>A (p.Leu4444=)
c.13182G>A (p.Leu4394=)
c.9882G>A (p.Leu3294=)
8g.143916586A>CCA372475879PLECc.13367T>G (p.Leu4456Arg)
c.13286T>G (p.Leu4429Arg)
c.12953T>G (p.Leu4318Arg)
c.13166T>G (p.Leu4389Arg)
c.13235T>G (p.Leu4412Arg)
c.9935T>G (p.Leu3312Arg)
c.13646T>G (p.Leu4549Arg)
c.13169T>G (p.Leu4390Arg)
c.13193T>G (p.Leu4398Arg)
c.13247T>G (p.Leu4416Arg)
c.13139T>G (p.Leu4380Arg)
c.13316T>G (p.Leu4439Arg)
c.13304T>G (p.Leu4435Arg)
c.13661T>G (p.Leu4554Arg)
c.13262T>G (p.Leu4421Arg)
c.13250T>G (p.Leu4417Arg)
c.13208T>G (p.Leu4403Arg)
c.13184T>G (p.Leu4395Arg)
c.13154T>G (p.Leu4385Arg)
c.13331T>G (p.Leu4444Arg)
c.13181T>G (p.Leu4394Arg)
c.9881T>G (p.Leu3294Arg)
8g.143916586A>GCA372475880PLECc.13367T>C (p.Leu4456Pro)
c.13286T>C (p.Leu4429Pro)
c.12953T>C (p.Leu4318Pro)
c.13166T>C (p.Leu4389Pro)
c.13235T>C (p.Leu4412Pro)
c.9935T>C (p.Leu3312Pro)
c.13646T>C (p.Leu4549Pro)
c.13169T>C (p.Leu4390Pro)
c.13193T>C (p.Leu4398Pro)
c.13247T>C (p.Leu4416Pro)
c.13139T>C (p.Leu4380Pro)
c.13316T>C (p.Leu4439Pro)
c.13304T>C (p.Leu4435Pro)
c.13661T>C (p.Leu4554Pro)
c.13262T>C (p.Leu4421Pro)
c.13250T>C (p.Leu4417Pro)
c.13208T>C (p.Leu4403Pro)
c.13184T>C (p.Leu4395Pro)
c.13154T>C (p.Leu4385Pro)
c.13331T>C (p.Leu4444Pro)
c.13181T>C (p.Leu4394Pro)
c.9881T>C (p.Leu3294Pro)
8g.143916586A>TCA372475882PLECc.13367T>A (p.Leu4456Gln)
c.13286T>A (p.Leu4429Gln)
c.12953T>A (p.Leu4318Gln)
c.13166T>A (p.Leu4389Gln)
c.13235T>A (p.Leu4412Gln)
c.9935T>A (p.Leu3312Gln)
c.13646T>A (p.Leu4549Gln)
c.13169T>A (p.Leu4390Gln)
c.13193T>A (p.Leu4398Gln)
c.13247T>A (p.Leu4416Gln)
c.13139T>A (p.Leu4380Gln)
c.13316T>A (p.Leu4439Gln)
c.13304T>A (p.Leu4435Gln)
c.13661T>A (p.Leu4554Gln)
c.13262T>A (p.Leu4421Gln)
c.13250T>A (p.Leu4417Gln)
c.13208T>A (p.Leu4403Gln)
c.13184T>A (p.Leu4395Gln)
c.13154T>A (p.Leu4385Gln)
c.13331T>A (p.Leu4444Gln)
c.13181T>A (p.Leu4394Gln)
c.9881T>A (p.Leu3294Gln)
8g.143916587G>ACA463525707PLECc.13366C>T (p.Leu4456=)
c.13285C>T (p.Leu4429=)
c.12952C>T (p.Leu4318=)
c.13165C>T (p.Leu4389=)
c.13234C>T (p.Leu4412=)
c.9934C>T (p.Leu3312=)
c.13645C>T (p.Leu4549=)
c.13168C>T (p.Leu4390=)
c.13192C>T (p.Leu4398=)
c.13246C>T (p.Leu4416=)
c.13138C>T (p.Leu4380=)
c.13315C>T (p.Leu4439=)
c.13303C>T (p.Leu4435=)
c.13660C>T (p.Leu4554=)
c.13261C>T (p.Leu4421=)
c.13249C>T (p.Leu4417=)
c.13207C>T (p.Leu4403=)
c.13183C>T (p.Leu4395=)
c.13153C>T (p.Leu4385=)
c.13330C>T (p.Leu4444=)
c.13180C>T (p.Leu4394=)
c.9880C>T (p.Leu3294=)
 gnomAD v4
8g.143916587G>CCA372475884PLECc.13366C>G (p.Leu4456Val)
c.13285C>G (p.Leu4429Val)
c.12952C>G (p.Leu4318Val)
c.13165C>G (p.Leu4389Val)
c.13234C>G (p.Leu4412Val)
c.9934C>G (p.Leu3312Val)
c.13645C>G (p.Leu4549Val)
c.13168C>G (p.Leu4390Val)
c.13192C>G (p.Leu4398Val)
c.13246C>G (p.Leu4416Val)
c.13138C>G (p.Leu4380Val)
c.13315C>G (p.Leu4439Val)
c.13303C>G (p.Leu4435Val)
c.13660C>G (p.Leu4554Val)
c.13261C>G (p.Leu4421Val)
c.13249C>G (p.Leu4417Val)
c.13207C>G (p.Leu4403Val)
c.13183C>G (p.Leu4395Val)
c.13153C>G (p.Leu4385Val)
c.13330C>G (p.Leu4444Val)
c.13180C>G (p.Leu4394Val)
c.9880C>G (p.Leu3294Val)
8g.143916587G>TCA372475885PLECc.13366C>A (p.Leu4456Met)
c.13285C>A (p.Leu4429Met)
c.12952C>A (p.Leu4318Met)
c.13165C>A (p.Leu4389Met)
c.13234C>A (p.Leu4412Met)
c.9934C>A (p.Leu3312Met)
c.13645C>A (p.Leu4549Met)
c.13168C>A (p.Leu4390Met)
c.13192C>A (p.Leu4398Met)
c.13246C>A (p.Leu4416Met)
c.13138C>A (p.Leu4380Met)
c.13315C>A (p.Leu4439Met)
c.13303C>A (p.Leu4435Met)
c.13660C>A (p.Leu4554Met)
c.13261C>A (p.Leu4421Met)
c.13249C>A (p.Leu4417Met)
c.13207C>A (p.Leu4403Met)
c.13183C>A (p.Leu4395Met)
c.13153C>A (p.Leu4385Met)
c.13330C>A (p.Leu4444Met)
c.13180C>A (p.Leu4394Met)
c.9880C>A (p.Leu3294Met)
 gnomAD v4
8g.143916588G>ACA463525708PLECc.13365C>T (p.Ala4455=)
c.13284C>T (p.Ala4428=)
c.12951C>T (p.Ala4317=)
c.13164C>T (p.Ala4388=)
c.13233C>T (p.Ala4411=)
c.9933C>T (p.Ala3311=)
c.13644C>T (p.Ala4548=)
c.13167C>T (p.Ala4389=)
c.13191C>T (p.Ala4397=)
c.13245C>T (p.Ala4415=)
c.13137C>T (p.Ala4379=)
c.13314C>T (p.Ala4438=)
c.13302C>T (p.Ala4434=)
c.13659C>T (p.Ala4553=)
c.13260C>T (p.Ala4420=)
c.13248C>T (p.Ala4416=)
c.13206C>T (p.Ala4402=)
c.13182C>T (p.Ala4394=)
c.13152C>T (p.Ala4384=)
c.13329C>T (p.Ala4443=)
c.13179C>T (p.Ala4393=)
c.9879C>T (p.Ala3293=)
8g.143916588G>CCA463525709PLECc.13365C>G (p.Ala4455=)
c.13284C>G (p.Ala4428=)
c.12951C>G (p.Ala4317=)
c.13164C>G (p.Ala4388=)
c.13233C>G (p.Ala4411=)
c.9933C>G (p.Ala3311=)
c.13644C>G (p.Ala4548=)
c.13167C>G (p.Ala4389=)
c.13191C>G (p.Ala4397=)
c.13245C>G (p.Ala4415=)
c.13137C>G (p.Ala4379=)
c.13314C>G (p.Ala4438=)
c.13302C>G (p.Ala4434=)
c.13659C>G (p.Ala4553=)
c.13260C>G (p.Ala4420=)
c.13248C>G (p.Ala4416=)
c.13206C>G (p.Ala4402=)
c.13182C>G (p.Ala4394=)
c.13152C>G (p.Ala4384=)
c.13329C>G (p.Ala4443=)
c.13179C>G (p.Ala4393=)
c.9879C>G (p.Ala3293=)
 gnomAD v4
8g.143916588G>TCA463525710PLECc.13365C>A (p.Ala4455=)
c.13284C>A (p.Ala4428=)
c.12951C>A (p.Ala4317=)
c.13164C>A (p.Ala4388=)
c.13233C>A (p.Ala4411=)
c.9933C>A (p.Ala3311=)
c.13644C>A (p.Ala4548=)
c.13167C>A (p.Ala4389=)
c.13191C>A (p.Ala4397=)
c.13245C>A (p.Ala4415=)
c.13137C>A (p.Ala4379=)
c.13314C>A (p.Ala4438=)
c.13302C>A (p.Ala4434=)
c.13659C>A (p.Ala4553=)
c.13260C>A (p.Ala4420=)
c.13248C>A (p.Ala4416=)
c.13206C>A (p.Ala4402=)
c.13182C>A (p.Ala4394=)
c.13152C>A (p.Ala4384=)
c.13329C>A (p.Ala4443=)
c.13179C>A (p.Ala4393=)
c.9879C>A (p.Ala3293=)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916589G>ACA372475887PLECc.13364C>T (p.Ala4455Val)
c.13283C>T (p.Ala4428Val)
c.12950C>T (p.Ala4317Val)
c.13163C>T (p.Ala4388Val)
c.13232C>T (p.Ala4411Val)
c.9932C>T (p.Ala3311Val)
c.13643C>T (p.Ala4548Val)
c.13166C>T (p.Ala4389Val)
c.13190C>T (p.Ala4397Val)
c.13244C>T (p.Ala4415Val)
c.13136C>T (p.Ala4379Val)
c.13313C>T (p.Ala4438Val)
c.13301C>T (p.Ala4434Val)
c.13658C>T (p.Ala4553Val)
c.13259C>T (p.Ala4420Val)
c.13247C>T (p.Ala4416Val)
c.13205C>T (p.Ala4402Val)
c.13181C>T (p.Ala4394Val)
c.13151C>T (p.Ala4384Val)
c.13328C>T (p.Ala4443Val)
c.13178C>T (p.Ala4393Val)
c.9878C>T (p.Ala3293Val)
 ClinVar dbSNP
8g.143916589G>CCA372475889PLECc.13364C>G (p.Ala4455Gly)
c.13283C>G (p.Ala4428Gly)
c.12950C>G (p.Ala4317Gly)
c.13163C>G (p.Ala4388Gly)
c.13232C>G (p.Ala4411Gly)
c.9932C>G (p.Ala3311Gly)
c.13643C>G (p.Ala4548Gly)
c.13166C>G (p.Ala4389Gly)
c.13190C>G (p.Ala4397Gly)
c.13244C>G (p.Ala4415Gly)
c.13136C>G (p.Ala4379Gly)
c.13313C>G (p.Ala4438Gly)
c.13301C>G (p.Ala4434Gly)
c.13658C>G (p.Ala4553Gly)
c.13259C>G (p.Ala4420Gly)
c.13247C>G (p.Ala4416Gly)
c.13205C>G (p.Ala4402Gly)
c.13181C>G (p.Ala4394Gly)
c.13151C>G (p.Ala4384Gly)
c.13328C>G (p.Ala4443Gly)
c.13178C>G (p.Ala4393Gly)
c.9878C>G (p.Ala3293Gly)
 COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916589G=CA1826037434PLECc.13364C= (p.Ala4455=)
c.13283C= (p.Ala4428=)
c.12950C= (p.Ala4317=)
c.13163C= (p.Ala4388=)
c.13232C= (p.Ala4411=)
c.9932C= (p.Ala3311=)
c.13643C= (p.Ala4548=)
c.13166C= (p.Ala4389=)
c.13190C= (p.Ala4397=)
c.13244C= (p.Ala4415=)
c.13136C= (p.Ala4379=)
c.13313C= (p.Ala4438=)
c.13301C= (p.Ala4434=)
c.13658C= (p.Ala4553=)
c.13259C= (p.Ala4420=)
c.13247C= (p.Ala4416=)
c.13205C= (p.Ala4402=)
c.13181C= (p.Ala4394=)
c.13151C= (p.Ala4384=)
c.13328C= (p.Ala4443=)
c.13178C= (p.Ala4393=)
c.9878C= (p.Ala3293=)
8g.143916589G>TCA372475891PLECc.13364C>A (p.Ala4455Asp)
c.13283C>A (p.Ala4428Asp)
c.12950C>A (p.Ala4317Asp)
c.13163C>A (p.Ala4388Asp)
c.13232C>A (p.Ala4411Asp)
c.9932C>A (p.Ala3311Asp)
c.13643C>A (p.Ala4548Asp)
c.13166C>A (p.Ala4389Asp)
c.13190C>A (p.Ala4397Asp)
c.13244C>A (p.Ala4415Asp)
c.13136C>A (p.Ala4379Asp)
c.13313C>A (p.Ala4438Asp)
c.13301C>A (p.Ala4434Asp)
c.13658C>A (p.Ala4553Asp)
c.13259C>A (p.Ala4420Asp)
c.13247C>A (p.Ala4416Asp)
c.13205C>A (p.Ala4402Asp)
c.13181C>A (p.Ala4394Asp)
c.13151C>A (p.Ala4384Asp)
c.13328C>A (p.Ala4443Asp)
c.13178C>A (p.Ala4393Asp)
c.9878C>A (p.Ala3293Asp)
 gnomAD v4
8g.143916590C>ACA372475892PLECc.13363G>T (p.Ala4455Ser)
c.13282G>T (p.Ala4428Ser)
c.12949G>T (p.Ala4317Ser)
c.13162G>T (p.Ala4388Ser)
c.13231G>T (p.Ala4411Ser)
c.9931G>T (p.Ala3311Ser)
c.13642G>T (p.Ala4548Ser)
c.13165G>T (p.Ala4389Ser)
c.13189G>T (p.Ala4397Ser)
c.13243G>T (p.Ala4415Ser)
c.13135G>T (p.Ala4379Ser)
c.13312G>T (p.Ala4438Ser)
c.13300G>T (p.Ala4434Ser)
c.13657G>T (p.Ala4553Ser)
c.13258G>T (p.Ala4420Ser)
c.13246G>T (p.Ala4416Ser)
c.13204G>T (p.Ala4402Ser)
c.13180G>T (p.Ala4394Ser)
c.13150G>T (p.Ala4384Ser)
c.13327G>T (p.Ala4443Ser)
c.13177G>T (p.Ala4393Ser)
c.9877G>T (p.Ala3293Ser)
8g.143916590C>GCA372475894PLECc.13363G>C (p.Ala4455Pro)
c.13282G>C (p.Ala4428Pro)
c.12949G>C (p.Ala4317Pro)
c.13162G>C (p.Ala4388Pro)
c.13231G>C (p.Ala4411Pro)
c.9931G>C (p.Ala3311Pro)
c.13642G>C (p.Ala4548Pro)
c.13165G>C (p.Ala4389Pro)
c.13189G>C (p.Ala4397Pro)
c.13243G>C (p.Ala4415Pro)
c.13135G>C (p.Ala4379Pro)
c.13312G>C (p.Ala4438Pro)
c.13300G>C (p.Ala4434Pro)
c.13657G>C (p.Ala4553Pro)
c.13258G>C (p.Ala4420Pro)
c.13246G>C (p.Ala4416Pro)
c.13204G>C (p.Ala4402Pro)
c.13180G>C (p.Ala4394Pro)
c.13150G>C (p.Ala4384Pro)
c.13327G>C (p.Ala4443Pro)
c.13177G>C (p.Ala4393Pro)
c.9877G>C (p.Ala3293Pro)
8g.143916590C>TCA372475895PLECc.13363G>A (p.Ala4455Thr)
c.13282G>A (p.Ala4428Thr)
c.12949G>A (p.Ala4317Thr)
c.13162G>A (p.Ala4388Thr)
c.13231G>A (p.Ala4411Thr)
c.9931G>A (p.Ala3311Thr)
c.13642G>A (p.Ala4548Thr)
c.13165G>A (p.Ala4389Thr)
c.13189G>A (p.Ala4397Thr)
c.13243G>A (p.Ala4415Thr)
c.13135G>A (p.Ala4379Thr)
c.13312G>A (p.Ala4438Thr)
c.13300G>A (p.Ala4434Thr)
c.13657G>A (p.Ala4553Thr)
c.13258G>A (p.Ala4420Thr)
c.13246G>A (p.Ala4416Thr)
c.13204G>A (p.Ala4402Thr)
c.13180G>A (p.Ala4394Thr)
c.13150G>A (p.Ala4384Thr)
c.13327G>A (p.Ala4443Thr)
c.13177G>A (p.Ala4393Thr)
c.9877G>A (p.Ala3293Thr)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916591C>ACA372475897PLECc.13362G>T (p.Glu4454Asp)
c.13281G>T (p.Glu4427Asp)
c.12948G>T (p.Glu4316Asp)
c.13161G>T (p.Glu4387Asp)
c.13230G>T (p.Glu4410Asp)
c.9930G>T (p.Glu3310Asp)
c.13641G>T (p.Glu4547Asp)
c.13164G>T (p.Glu4388Asp)
c.13188G>T (p.Glu4396Asp)
c.13242G>T (p.Glu4414Asp)
c.13134G>T (p.Glu4378Asp)
c.13311G>T (p.Glu4437Asp)
c.13299G>T (p.Glu4433Asp)
c.13656G>T (p.Glu4552Asp)
c.13257G>T (p.Glu4419Asp)
c.13245G>T (p.Glu4415Asp)
c.13203G>T (p.Glu4401Asp)
c.13179G>T (p.Glu4393Asp)
c.13149G>T (p.Glu4383Asp)
c.13326G>T (p.Glu4442Asp)
c.13176G>T (p.Glu4392Asp)
c.9876G>T (p.Glu3292Asp)
8g.143916591C>GCA372475899PLECc.13362G>C (p.Glu4454Asp)
c.13281G>C (p.Glu4427Asp)
c.12948G>C (p.Glu4316Asp)
c.13161G>C (p.Glu4387Asp)
c.13230G>C (p.Glu4410Asp)
c.9930G>C (p.Glu3310Asp)
c.13641G>C (p.Glu4547Asp)
c.13164G>C (p.Glu4388Asp)
c.13188G>C (p.Glu4396Asp)
c.13242G>C (p.Glu4414Asp)
c.13134G>C (p.Glu4378Asp)
c.13311G>C (p.Glu4437Asp)
c.13299G>C (p.Glu4433Asp)
c.13656G>C (p.Glu4552Asp)
c.13257G>C (p.Glu4419Asp)
c.13245G>C (p.Glu4415Asp)
c.13203G>C (p.Glu4401Asp)
c.13179G>C (p.Glu4393Asp)
c.13149G>C (p.Glu4383Asp)
c.13326G>C (p.Glu4442Asp)
c.13176G>C (p.Glu4392Asp)
c.9876G>C (p.Glu3292Asp)
8g.143916591C>TCA463525711PLECc.13362G>A (p.Glu4454=)
c.13281G>A (p.Glu4427=)
c.12948G>A (p.Glu4316=)
c.13161G>A (p.Glu4387=)
c.13230G>A (p.Glu4410=)
c.9930G>A (p.Glu3310=)
c.13641G>A (p.Glu4547=)
c.13164G>A (p.Glu4388=)
c.13188G>A (p.Glu4396=)
c.13242G>A (p.Glu4414=)
c.13134G>A (p.Glu4378=)
c.13311G>A (p.Glu4437=)
c.13299G>A (p.Glu4433=)
c.13656G>A (p.Glu4552=)
c.13257G>A (p.Glu4419=)
c.13245G>A (p.Glu4415=)
c.13203G>A (p.Glu4401=)
c.13179G>A (p.Glu4393=)
c.13149G>A (p.Glu4383=)
c.13326G>A (p.Glu4442=)
c.13176G>A (p.Glu4392=)
c.9876G>A (p.Glu3292=)
8g.143916592T>ACA372475901PLECc.13361A>T (p.Glu4454Val)
c.13280A>T (p.Glu4427Val)
c.12947A>T (p.Glu4316Val)
c.13160A>T (p.Glu4387Val)
c.13229A>T (p.Glu4410Val)
c.9929A>T (p.Glu3310Val)
c.13640A>T (p.Glu4547Val)
c.13163A>T (p.Glu4388Val)
c.13187A>T (p.Glu4396Val)
c.13241A>T (p.Glu4414Val)
c.13133A>T (p.Glu4378Val)
c.13310A>T (p.Glu4437Val)
c.13298A>T (p.Glu4433Val)
c.13655A>T (p.Glu4552Val)
c.13256A>T (p.Glu4419Val)
c.13244A>T (p.Glu4415Val)
c.13202A>T (p.Glu4401Val)
c.13178A>T (p.Glu4393Val)
c.13148A>T (p.Glu4383Val)
c.13325A>T (p.Glu4442Val)
c.13175A>T (p.Glu4392Val)
c.9875A>T (p.Glu3292Val)
8g.143916592T>CCA372475905PLECc.13361A>G (p.Glu4454Gly)
c.13280A>G (p.Glu4427Gly)
c.12947A>G (p.Glu4316Gly)
c.13160A>G (p.Glu4387Gly)
c.13229A>G (p.Glu4410Gly)
c.9929A>G (p.Glu3310Gly)
c.13640A>G (p.Glu4547Gly)
c.13163A>G (p.Glu4388Gly)
c.13187A>G (p.Glu4396Gly)
c.13241A>G (p.Glu4414Gly)
c.13133A>G (p.Glu4378Gly)
c.13310A>G (p.Glu4437Gly)
c.13298A>G (p.Glu4433Gly)
c.13655A>G (p.Glu4552Gly)
c.13256A>G (p.Glu4419Gly)
c.13244A>G (p.Glu4415Gly)
c.13202A>G (p.Glu4401Gly)
c.13178A>G (p.Glu4393Gly)
c.13148A>G (p.Glu4383Gly)
c.13325A>G (p.Glu4442Gly)
c.13175A>G (p.Glu4392Gly)
c.9875A>G (p.Glu3292Gly)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916592T>GCA372475903PLECc.13361A>C (p.Glu4454Ala)
c.13280A>C (p.Glu4427Ala)
c.12947A>C (p.Glu4316Ala)
c.13160A>C (p.Glu4387Ala)
c.13229A>C (p.Glu4410Ala)
c.9929A>C (p.Glu3310Ala)
c.13640A>C (p.Glu4547Ala)
c.13163A>C (p.Glu4388Ala)
c.13187A>C (p.Glu4396Ala)
c.13241A>C (p.Glu4414Ala)
c.13133A>C (p.Glu4378Ala)
c.13310A>C (p.Glu4437Ala)
c.13298A>C (p.Glu4433Ala)
c.13655A>C (p.Glu4552Ala)
c.13256A>C (p.Glu4419Ala)
c.13244A>C (p.Glu4415Ala)
c.13202A>C (p.Glu4401Ala)
c.13178A>C (p.Glu4393Ala)
c.13148A>C (p.Glu4383Ala)
c.13325A>C (p.Glu4442Ala)
c.13175A>C (p.Glu4392Ala)
c.9875A>C (p.Glu3292Ala)
8g.143916593C>ACA372475907PLECc.13360G>T (p.Glu4454Ter)
c.13279G>T (p.Glu4427Ter)
c.12946G>T (p.Glu4316Ter)
c.13159G>T (p.Glu4387Ter)
c.13228G>T (p.Glu4410Ter)
c.9928G>T (p.Glu3310Ter)
c.13639G>T (p.Glu4547Ter)
c.13162G>T (p.Glu4388Ter)
c.13186G>T (p.Glu4396Ter)
c.13240G>T (p.Glu4414Ter)
c.13132G>T (p.Glu4378Ter)
c.13309G>T (p.Glu4437Ter)
c.13297G>T (p.Glu4433Ter)
c.13654G>T (p.Glu4552Ter)
c.13255G>T (p.Glu4419Ter)
c.13243G>T (p.Glu4415Ter)
c.13201G>T (p.Glu4401Ter)
c.13177G>T (p.Glu4393Ter)
c.13147G>T (p.Glu4383Ter)
c.13324G>T (p.Glu4442Ter)
c.13174G>T (p.Glu4392Ter)
c.9874G>T (p.Glu3292Ter)
8g.143916593C=CA1826037436PLECc.13360G= (p.Glu4454=)
c.13279G= (p.Glu4427=)
c.12946G= (p.Glu4316=)
c.13159G= (p.Glu4387=)
c.13228G= (p.Glu4410=)
c.9928G= (p.Glu3310=)
c.13639G= (p.Glu4547=)
c.13162G= (p.Glu4388=)
c.13186G= (p.Glu4396=)
c.13240G= (p.Glu4414=)
c.13132G= (p.Glu4378=)
c.13309G= (p.Glu4437=)
c.13297G= (p.Glu4433=)
c.13654G= (p.Glu4552=)
c.13255G= (p.Glu4419=)
c.13243G= (p.Glu4415=)
c.13201G= (p.Glu4401=)
c.13177G= (p.Glu4393=)
c.13147G= (p.Glu4383=)
c.13324G= (p.Glu4442=)
c.13174G= (p.Glu4392=)
c.9874G= (p.Glu3292=)
8g.143916593C>GCA372475909PLECc.13360G>C (p.Glu4454Gln)
c.13279G>C (p.Glu4427Gln)
c.12946G>C (p.Glu4316Gln)
c.13159G>C (p.Glu4387Gln)
c.13228G>C (p.Glu4410Gln)
c.9928G>C (p.Glu3310Gln)
c.13639G>C (p.Glu4547Gln)
c.13162G>C (p.Glu4388Gln)
c.13186G>C (p.Glu4396Gln)
c.13240G>C (p.Glu4414Gln)
c.13132G>C (p.Glu4378Gln)
c.13309G>C (p.Glu4437Gln)
c.13297G>C (p.Glu4433Gln)
c.13654G>C (p.Glu4552Gln)
c.13255G>C (p.Glu4419Gln)
c.13243G>C (p.Glu4415Gln)
c.13201G>C (p.Glu4401Gln)
c.13177G>C (p.Glu4393Gln)
c.13147G>C (p.Glu4383Gln)
c.13324G>C (p.Glu4442Gln)
c.13174G>C (p.Glu4392Gln)
c.9874G>C (p.Glu3292Gln)
8g.143916593C>TCA4923875PLECc.13360G>A (p.Glu4454Lys)
c.13279G>A (p.Glu4427Lys)
c.12946G>A (p.Glu4316Lys)
c.13159G>A (p.Glu4387Lys)
c.13228G>A (p.Glu4410Lys)
c.9928G>A (p.Glu3310Lys)
c.13639G>A (p.Glu4547Lys)
c.13162G>A (p.Glu4388Lys)
c.13186G>A (p.Glu4396Lys)
c.13240G>A (p.Glu4414Lys)
c.13132G>A (p.Glu4378Lys)
c.13309G>A (p.Glu4437Lys)
c.13297G>A (p.Glu4433Lys)
c.13654G>A (p.Glu4552Lys)
c.13255G>A (p.Glu4419Lys)
c.13243G>A (p.Glu4415Lys)
c.13201G>A (p.Glu4401Lys)
c.13177G>A (p.Glu4393Lys)
c.13147G>A (p.Glu4383Lys)
c.13324G>A (p.Glu4442Lys)
c.13174G>A (p.Glu4392Lys)
c.9874G>A (p.Glu3292Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916594G>ACA4923876PLECc.13359C>T (p.Asp4453=)
c.13278C>T (p.Asp4426=)
c.12945C>T (p.Asp4315=)
c.13158C>T (p.Asp4386=)
c.13227C>T (p.Asp4409=)
c.9927C>T (p.Asp3309=)
c.13638C>T (p.Asp4546=)
c.13161C>T (p.Asp4387=)
c.13185C>T (p.Asp4395=)
c.13239C>T (p.Asp4413=)
c.13131C>T (p.Asp4377=)
c.13308C>T (p.Asp4436=)
c.13296C>T (p.Asp4432=)
c.13653C>T (p.Asp4551=)
c.13254C>T (p.Asp4418=)
c.13242C>T (p.Asp4414=)
c.13200C>T (p.Asp4400=)
c.13176C>T (p.Asp4392=)
c.13146C>T (p.Asp4382=)
c.13323C>T (p.Asp4441=)
c.13173C>T (p.Asp4391=)
c.9873C>T (p.Asp3291=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916594G>CCA372475911PLECc.13359C>G (p.Asp4453Glu)
c.13278C>G (p.Asp4426Glu)
c.12945C>G (p.Asp4315Glu)
c.13158C>G (p.Asp4386Glu)
c.13227C>G (p.Asp4409Glu)
c.9927C>G (p.Asp3309Glu)
c.13638C>G (p.Asp4546Glu)
c.13161C>G (p.Asp4387Glu)
c.13185C>G (p.Asp4395Glu)
c.13239C>G (p.Asp4413Glu)
c.13131C>G (p.Asp4377Glu)
c.13308C>G (p.Asp4436Glu)
c.13296C>G (p.Asp4432Glu)
c.13653C>G (p.Asp4551Glu)
c.13254C>G (p.Asp4418Glu)
c.13242C>G (p.Asp4414Glu)
c.13200C>G (p.Asp4400Glu)
c.13176C>G (p.Asp4392Glu)
c.13146C>G (p.Asp4382Glu)
c.13323C>G (p.Asp4441Glu)
c.13173C>G (p.Asp4391Glu)
c.9873C>G (p.Asp3291Glu)
8g.143916594G=CA1826037440PLECc.13359C= (p.Asp4453=)
c.13278C= (p.Asp4426=)
c.12945C= (p.Asp4315=)
c.13158C= (p.Asp4386=)
c.13227C= (p.Asp4409=)
c.9927C= (p.Asp3309=)
c.13638C= (p.Asp4546=)
c.13161C= (p.Asp4387=)
c.13185C= (p.Asp4395=)
c.13239C= (p.Asp4413=)
c.13131C= (p.Asp4377=)
c.13308C= (p.Asp4436=)
c.13296C= (p.Asp4432=)
c.13653C= (p.Asp4551=)
c.13254C= (p.Asp4418=)
c.13242C= (p.Asp4414=)
c.13200C= (p.Asp4400=)
c.13176C= (p.Asp4392=)
c.13146C= (p.Asp4382=)
c.13323C= (p.Asp4441=)
c.13173C= (p.Asp4391=)
c.9873C= (p.Asp3291=)
8g.143916594G>TCA372475913PLECc.13359C>A (p.Asp4453Glu)
c.13278C>A (p.Asp4426Glu)
c.12945C>A (p.Asp4315Glu)
c.13158C>A (p.Asp4386Glu)
c.13227C>A (p.Asp4409Glu)
c.9927C>A (p.Asp3309Glu)
c.13638C>A (p.Asp4546Glu)
c.13161C>A (p.Asp4387Glu)
c.13185C>A (p.Asp4395Glu)
c.13239C>A (p.Asp4413Glu)
c.13131C>A (p.Asp4377Glu)
c.13308C>A (p.Asp4436Glu)
c.13296C>A (p.Asp4432Glu)
c.13653C>A (p.Asp4551Glu)
c.13254C>A (p.Asp4418Glu)
c.13242C>A (p.Asp4414Glu)
c.13200C>A (p.Asp4400Glu)
c.13176C>A (p.Asp4392Glu)
c.13146C>A (p.Asp4382Glu)
c.13323C>A (p.Asp4441Glu)
c.13173C>A (p.Asp4391Glu)
c.9873C>A (p.Asp3291Glu)
8g.143916595T>ACA372475915PLECc.13358A>T (p.Asp4453Val)
c.13277A>T (p.Asp4426Val)
c.12944A>T (p.Asp4315Val)
c.13157A>T (p.Asp4386Val)
c.13226A>T (p.Asp4409Val)
c.9926A>T (p.Asp3309Val)
c.13637A>T (p.Asp4546Val)
c.13160A>T (p.Asp4387Val)
c.13184A>T (p.Asp4395Val)
c.13238A>T (p.Asp4413Val)
c.13130A>T (p.Asp4377Val)
c.13307A>T (p.Asp4436Val)
c.13295A>T (p.Asp4432Val)
c.13652A>T (p.Asp4551Val)
c.13253A>T (p.Asp4418Val)
c.13241A>T (p.Asp4414Val)
c.13199A>T (p.Asp4400Val)
c.13175A>T (p.Asp4392Val)
c.13145A>T (p.Asp4382Val)
c.13322A>T (p.Asp4441Val)
c.13172A>T (p.Asp4391Val)
c.9872A>T (p.Asp3291Val)
8g.143916595T>CCA372475917PLECc.13358A>G (p.Asp4453Gly)
c.13277A>G (p.Asp4426Gly)
c.12944A>G (p.Asp4315Gly)
c.13157A>G (p.Asp4386Gly)
c.13226A>G (p.Asp4409Gly)
c.9926A>G (p.Asp3309Gly)
c.13637A>G (p.Asp4546Gly)
c.13160A>G (p.Asp4387Gly)
c.13184A>G (p.Asp4395Gly)
c.13238A>G (p.Asp4413Gly)
c.13130A>G (p.Asp4377Gly)
c.13307A>G (p.Asp4436Gly)
c.13295A>G (p.Asp4432Gly)
c.13652A>G (p.Asp4551Gly)
c.13253A>G (p.Asp4418Gly)
c.13241A>G (p.Asp4414Gly)
c.13199A>G (p.Asp4400Gly)
c.13175A>G (p.Asp4392Gly)
c.13145A>G (p.Asp4382Gly)
c.13322A>G (p.Asp4441Gly)
c.13172A>G (p.Asp4391Gly)
c.9872A>G (p.Asp3291Gly)
8g.143916595T>GCA372475919PLECc.13358A>C (p.Asp4453Ala)
c.13277A>C (p.Asp4426Ala)
c.12944A>C (p.Asp4315Ala)
c.13157A>C (p.Asp4386Ala)
c.13226A>C (p.Asp4409Ala)
c.9926A>C (p.Asp3309Ala)
c.13637A>C (p.Asp4546Ala)
c.13160A>C (p.Asp4387Ala)
c.13184A>C (p.Asp4395Ala)
c.13238A>C (p.Asp4413Ala)
c.13130A>C (p.Asp4377Ala)
c.13307A>C (p.Asp4436Ala)
c.13295A>C (p.Asp4432Ala)
c.13652A>C (p.Asp4551Ala)
c.13253A>C (p.Asp4418Ala)
c.13241A>C (p.Asp4414Ala)
c.13199A>C (p.Asp4400Ala)
c.13175A>C (p.Asp4392Ala)
c.13145A>C (p.Asp4382Ala)
c.13322A>C (p.Asp4441Ala)
c.13172A>C (p.Asp4391Ala)
c.9872A>C (p.Asp3291Ala)
8g.143916596C>ACA372475924PLECc.13357G>T (p.Asp4453Tyr)
c.13276G>T (p.Asp4426Tyr)
c.12943G>T (p.Asp4315Tyr)
c.13156G>T (p.Asp4386Tyr)
c.13225G>T (p.Asp4409Tyr)
c.9925G>T (p.Asp3309Tyr)
c.13636G>T (p.Asp4546Tyr)
c.13159G>T (p.Asp4387Tyr)
c.13183G>T (p.Asp4395Tyr)
c.13237G>T (p.Asp4413Tyr)
c.13129G>T (p.Asp4377Tyr)
c.13306G>T (p.Asp4436Tyr)
c.13294G>T (p.Asp4432Tyr)
c.13651G>T (p.Asp4551Tyr)
c.13252G>T (p.Asp4418Tyr)
c.13240G>T (p.Asp4414Tyr)
c.13198G>T (p.Asp4400Tyr)
c.13174G>T (p.Asp4392Tyr)
c.13144G>T (p.Asp4382Tyr)
c.13321G>T (p.Asp4441Tyr)
c.13171G>T (p.Asp4391Tyr)
c.9871G>T (p.Asp3291Tyr)
8g.143916596C=CA1826037441PLECc.13357G= (p.Asp4453=)
c.13276G= (p.Asp4426=)
c.12943G= (p.Asp4315=)
c.13156G= (p.Asp4386=)
c.13225G= (p.Asp4409=)
c.9925G= (p.Asp3309=)
c.13636G= (p.Asp4546=)
c.13159G= (p.Asp4387=)
c.13183G= (p.Asp4395=)
c.13237G= (p.Asp4413=)
c.13129G= (p.Asp4377=)
c.13306G= (p.Asp4436=)
c.13294G= (p.Asp4432=)
c.13651G= (p.Asp4551=)
c.13252G= (p.Asp4418=)
c.13240G= (p.Asp4414=)
c.13198G= (p.Asp4400=)
c.13174G= (p.Asp4392=)
c.13144G= (p.Asp4382=)
c.13321G= (p.Asp4441=)
c.13171G= (p.Asp4391=)
c.9871G= (p.Asp3291=)
8g.143916596C>GCA372475923PLECc.13357G>C (p.Asp4453His)
c.13276G>C (p.Asp4426His)
c.12943G>C (p.Asp4315His)
c.13156G>C (p.Asp4386His)
c.13225G>C (p.Asp4409His)
c.9925G>C (p.Asp3309His)
c.13636G>C (p.Asp4546His)
c.13159G>C (p.Asp4387His)
c.13183G>C (p.Asp4395His)
c.13237G>C (p.Asp4413His)
c.13129G>C (p.Asp4377His)
c.13306G>C (p.Asp4436His)
c.13294G>C (p.Asp4432His)
c.13651G>C (p.Asp4551His)
c.13252G>C (p.Asp4418His)
c.13240G>C (p.Asp4414His)
c.13198G>C (p.Asp4400His)
c.13174G>C (p.Asp4392His)
c.13144G>C (p.Asp4382His)
c.13321G>C (p.Asp4441His)
c.13171G>C (p.Asp4391His)
c.9871G>C (p.Asp3291His)
8g.143916596C>TCA372475921PLECc.13357G>A (p.Asp4453Asn)
c.13276G>A (p.Asp4426Asn)
c.12943G>A (p.Asp4315Asn)
c.13156G>A (p.Asp4386Asn)
c.13225G>A (p.Asp4409Asn)
c.9925G>A (p.Asp3309Asn)
c.13636G>A (p.Asp4546Asn)
c.13159G>A (p.Asp4387Asn)
c.13183G>A (p.Asp4395Asn)
c.13237G>A (p.Asp4413Asn)
c.13129G>A (p.Asp4377Asn)
c.13306G>A (p.Asp4436Asn)
c.13294G>A (p.Asp4432Asn)
c.13651G>A (p.Asp4551Asn)
c.13252G>A (p.Asp4418Asn)
c.13240G>A (p.Asp4414Asn)
c.13198G>A (p.Asp4400Asn)
c.13174G>A (p.Asp4392Asn)
c.13144G>A (p.Asp4382Asn)
c.13321G>A (p.Asp4441Asn)
c.13171G>A (p.Asp4391Asn)
c.9871G>A (p.Asp3291Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.143916597C>ACA463525724PLECc.13356G>T (p.Leu4452=)
c.13275G>T (p.Leu4425=)
c.12942G>T (p.Leu4314=)
c.13155G>T (p.Leu4385=)
c.13224G>T (p.Leu4408=)
c.9924G>T (p.Leu3308=)
c.13635G>T (p.Leu4545=)
c.13158G>T (p.Leu4386=)
c.13182G>T (p.Leu4394=)
c.13236G>T (p.Leu4412=)
c.13128G>T (p.Leu4376=)
c.13305G>T (p.Leu4435=)
c.13293G>T (p.Leu4431=)
c.13650G>T (p.Leu4550=)
c.13251G>T (p.Leu4417=)
c.13239G>T (p.Leu4413=)
c.13197G>T (p.Leu4399=)
c.13173G>T (p.Leu4391=)
c.13143G>T (p.Leu4381=)
c.13320G>T (p.Leu4440=)
c.13170G>T (p.Leu4390=)
c.9870G>T (p.Leu3290=)
8g.143916597C>GCA463525722PLECc.13356G>C (p.Leu4452=)
c.13275G>C (p.Leu4425=)
c.12942G>C (p.Leu4314=)
c.13155G>C (p.Leu4385=)
c.13224G>C (p.Leu4408=)
c.9924G>C (p.Leu3308=)
c.13635G>C (p.Leu4545=)
c.13158G>C (p.Leu4386=)
c.13182G>C (p.Leu4394=)
c.13236G>C (p.Leu4412=)
c.13128G>C (p.Leu4376=)
c.13305G>C (p.Leu4435=)
c.13293G>C (p.Leu4431=)
c.13650G>C (p.Leu4550=)
c.13251G>C (p.Leu4417=)
c.13239G>C (p.Leu4413=)
c.13197G>C (p.Leu4399=)
c.13173G>C (p.Leu4391=)
c.13143G>C (p.Leu4381=)
c.13320G>C (p.Leu4440=)
c.13170G>C (p.Leu4390=)
c.9870G>C (p.Leu3290=)
8g.143916597C>TCA463525723PLECc.13356G>A (p.Leu4452=)
c.13275G>A (p.Leu4425=)
c.12942G>A (p.Leu4314=)
c.13155G>A (p.Leu4385=)
c.13224G>A (p.Leu4408=)
c.9924G>A (p.Leu3308=)
c.13635G>A (p.Leu4545=)
c.13158G>A (p.Leu4386=)
c.13182G>A (p.Leu4394=)
c.13236G>A (p.Leu4412=)
c.13128G>A (p.Leu4376=)
c.13305G>A (p.Leu4435=)
c.13293G>A (p.Leu4431=)
c.13650G>A (p.Leu4550=)
c.13251G>A (p.Leu4417=)
c.13239G>A (p.Leu4413=)
c.13197G>A (p.Leu4399=)
c.13173G>A (p.Leu4391=)
c.13143G>A (p.Leu4381=)
c.13320G>A (p.Leu4440=)
c.13170G>A (p.Leu4390=)
c.9870G>A (p.Leu3290=)
8g.143916598A>CCA372475926PLECc.13355T>G (p.Leu4452Arg)
c.13274T>G (p.Leu4425Arg)
c.12941T>G (p.Leu4314Arg)
c.13154T>G (p.Leu4385Arg)
c.13223T>G (p.Leu4408Arg)
c.9923T>G (p.Leu3308Arg)
c.13634T>G (p.Leu4545Arg)
c.13157T>G (p.Leu4386Arg)
c.13181T>G (p.Leu4394Arg)
c.13235T>G (p.Leu4412Arg)
c.13127T>G (p.Leu4376Arg)
c.13304T>G (p.Leu4435Arg)
c.13292T>G (p.Leu4431Arg)
c.13649T>G (p.Leu4550Arg)
c.13250T>G (p.Leu4417Arg)
c.13238T>G (p.Leu4413Arg)
c.13196T>G (p.Leu4399Arg)
c.13172T>G (p.Leu4391Arg)
c.13142T>G (p.Leu4381Arg)
c.13319T>G (p.Leu4440Arg)
c.13169T>G (p.Leu4390Arg)
c.9869T>G (p.Leu3290Arg)
8g.143916598A>GCA372475928PLECc.13355T>C (p.Leu4452Pro)
c.13274T>C (p.Leu4425Pro)
c.12941T>C (p.Leu4314Pro)
c.13154T>C (p.Leu4385Pro)
c.13223T>C (p.Leu4408Pro)
c.9923T>C (p.Leu3308Pro)
c.13634T>C (p.Leu4545Pro)
c.13157T>C (p.Leu4386Pro)
c.13181T>C (p.Leu4394Pro)
c.13235T>C (p.Leu4412Pro)
c.13127T>C (p.Leu4376Pro)
c.13304T>C (p.Leu4435Pro)
c.13292T>C (p.Leu4431Pro)
c.13649T>C (p.Leu4550Pro)
c.13250T>C (p.Leu4417Pro)
c.13238T>C (p.Leu4413Pro)
c.13196T>C (p.Leu4399Pro)
c.13172T>C (p.Leu4391Pro)
c.13142T>C (p.Leu4381Pro)
c.13319T>C (p.Leu4440Pro)
c.13169T>C (p.Leu4390Pro)
c.9869T>C (p.Leu3290Pro)
8g.143916598A>TCA372475929PLECc.13355T>A (p.Leu4452Gln)
c.13274T>A (p.Leu4425Gln)
c.12941T>A (p.Leu4314Gln)
c.13154T>A (p.Leu4385Gln)
c.13223T>A (p.Leu4408Gln)
c.9923T>A (p.Leu3308Gln)
c.13634T>A (p.Leu4545Gln)
c.13157T>A (p.Leu4386Gln)
c.13181T>A (p.Leu4394Gln)
c.13235T>A (p.Leu4412Gln)
c.13127T>A (p.Leu4376Gln)
c.13304T>A (p.Leu4435Gln)
c.13292T>A (p.Leu4431Gln)
c.13649T>A (p.Leu4550Gln)
c.13250T>A (p.Leu4417Gln)
c.13238T>A (p.Leu4413Gln)
c.13196T>A (p.Leu4399Gln)
c.13172T>A (p.Leu4391Gln)
c.13142T>A (p.Leu4381Gln)
c.13319T>A (p.Leu4440Gln)
c.13169T>A (p.Leu4390Gln)
c.9869T>A (p.Leu3290Gln)
8g.143916599G>ACA187606704PLECc.13354C>T (p.Leu4452=)
c.13273C>T (p.Leu4425=)
c.12940C>T (p.Leu4314=)
c.13153C>T (p.Leu4385=)
c.13222C>T (p.Leu4408=)
c.9922C>T (p.Leu3308=)
c.13633C>T (p.Leu4545=)
c.13156C>T (p.Leu4386=)
c.13180C>T (p.Leu4394=)
c.13234C>T (p.Leu4412=)
c.13126C>T (p.Leu4376=)
c.13303C>T (p.Leu4435=)
c.13291C>T (p.Leu4431=)
c.13648C>T (p.Leu4550=)
c.13249C>T (p.Leu4417=)
c.13237C>T (p.Leu4413=)
c.13195C>T (p.Leu4399=)
c.13171C>T (p.Leu4391=)
c.13141C>T (p.Leu4381=)
c.13318C>T (p.Leu4440=)
c.13168C>T (p.Leu4390=)
c.9868C>T (p.Leu3290=)
 dbSNP
8g.143916599G>CCA372475932PLECc.13354C>G (p.Leu4452Val)
c.13273C>G (p.Leu4425Val)
c.12940C>G (p.Leu4314Val)
c.13153C>G (p.Leu4385Val)
c.13222C>G (p.Leu4408Val)
c.9922C>G (p.Leu3308Val)
c.13633C>G (p.Leu4545Val)
c.13156C>G (p.Leu4386Val)
c.13180C>G (p.Leu4394Val)
c.13234C>G (p.Leu4412Val)
c.13126C>G (p.Leu4376Val)
c.13303C>G (p.Leu4435Val)
c.13291C>G (p.Leu4431Val)
c.13648C>G (p.Leu4550Val)
c.13249C>G (p.Leu4417Val)
c.13237C>G (p.Leu4413Val)
c.13195C>G (p.Leu4399Val)
c.13171C>G (p.Leu4391Val)
c.13141C>G (p.Leu4381Val)
c.13318C>G (p.Leu4440Val)
c.13168C>G (p.Leu4390Val)
c.9868C>G (p.Leu3290Val)
8g.143916599G=CA1826037443PLECc.13354C= (p.Leu4452=)
c.13273C= (p.Leu4425=)
c.12940C= (p.Leu4314=)
c.13153C= (p.Leu4385=)
c.13222C= (p.Leu4408=)
c.9922C= (p.Leu3308=)
c.13633C= (p.Leu4545=)
c.13156C= (p.Leu4386=)
c.13180C= (p.Leu4394=)
c.13234C= (p.Leu4412=)
c.13126C= (p.Leu4376=)
c.13303C= (p.Leu4435=)
c.13291C= (p.Leu4431=)
c.13648C= (p.Leu4550=)
c.13249C= (p.Leu4417=)
c.13237C= (p.Leu4413=)
c.13195C= (p.Leu4399=)
c.13171C= (p.Leu4391=)
c.13141C= (p.Leu4381=)
c.13318C= (p.Leu4440=)
c.13168C= (p.Leu4390=)
c.9868C= (p.Leu3290=)
8g.143916599G>TCA372475934PLECc.13354C>A (p.Leu4452Met)
c.13273C>A (p.Leu4425Met)
c.12940C>A (p.Leu4314Met)
c.13153C>A (p.Leu4385Met)
c.13222C>A (p.Leu4408Met)
c.9922C>A (p.Leu3308Met)
c.13633C>A (p.Leu4545Met)
c.13156C>A (p.Leu4386Met)
c.13180C>A (p.Leu4394Met)
c.13234C>A (p.Leu4412Met)
c.13126C>A (p.Leu4376Met)
c.13303C>A (p.Leu4435Met)
c.13291C>A (p.Leu4431Met)
c.13648C>A (p.Leu4550Met)
c.13249C>A (p.Leu4417Met)
c.13237C>A (p.Leu4413Met)
c.13195C>A (p.Leu4399Met)
c.13171C>A (p.Leu4391Met)
c.13141C>A (p.Leu4381Met)
c.13318C>A (p.Leu4440Met)
c.13168C>A (p.Leu4390Met)
c.9868C>A (p.Leu3290Met)
8g.143916600G>ACA463525726PLECc.13353C>T (p.Pro4451=)
c.13272C>T (p.Pro4424=)
c.12939C>T (p.Pro4313=)
c.13152C>T (p.Pro4384=)
c.13221C>T (p.Pro4407=)
c.9921C>T (p.Pro3307=)
c.13632C>T (p.Pro4544=)
c.13155C>T (p.Pro4385=)
c.13179C>T (p.Pro4393=)
c.13233C>T (p.Pro4411=)
c.13125C>T (p.Pro4375=)
c.13302C>T (p.Pro4434=)
c.13290C>T (p.Pro4430=)
c.13647C>T (p.Pro4549=)
c.13248C>T (p.Pro4416=)
c.13236C>T (p.Pro4412=)
c.13194C>T (p.Pro4398=)
c.13170C>T (p.Pro4390=)
c.13140C>T (p.Pro4380=)
c.13317C>T (p.Pro4439=)
c.13167C>T (p.Pro4389=)
c.9867C>T (p.Pro3289=)
 dbSNP
8g.143916600G>CCA463525727PLECc.13353C>G (p.Pro4451=)
c.13272C>G (p.Pro4424=)
c.12939C>G (p.Pro4313=)
c.13152C>G (p.Pro4384=)
c.13221C>G (p.Pro4407=)
c.9921C>G (p.Pro3307=)
c.13632C>G (p.Pro4544=)
c.13155C>G (p.Pro4385=)
c.13179C>G (p.Pro4393=)
c.13233C>G (p.Pro4411=)
c.13125C>G (p.Pro4375=)
c.13302C>G (p.Pro4434=)
c.13290C>G (p.Pro4430=)
c.13647C>G (p.Pro4549=)
c.13248C>G (p.Pro4416=)
c.13236C>G (p.Pro4412=)
c.13194C>G (p.Pro4398=)
c.13170C>G (p.Pro4390=)
c.13140C>G (p.Pro4380=)
c.13317C>G (p.Pro4439=)
c.13167C>G (p.Pro4389=)
c.9867C>G (p.Pro3289=)
8g.143916600G=CA1826037445PLECc.13353C= (p.Pro4451=)
c.13272C= (p.Pro4424=)
c.12939C= (p.Pro4313=)
c.13152C= (p.Pro4384=)
c.13221C= (p.Pro4407=)
c.9921C= (p.Pro3307=)
c.13632C= (p.Pro4544=)
c.13155C= (p.Pro4385=)
c.13179C= (p.Pro4393=)
c.13233C= (p.Pro4411=)
c.13125C= (p.Pro4375=)
c.13302C= (p.Pro4434=)
c.13290C= (p.Pro4430=)
c.13647C= (p.Pro4549=)
c.13248C= (p.Pro4416=)
c.13236C= (p.Pro4412=)
c.13194C= (p.Pro4398=)
c.13170C= (p.Pro4390=)
c.13140C= (p.Pro4380=)
c.13317C= (p.Pro4439=)
c.13167C= (p.Pro4389=)
c.9867C= (p.Pro3289=)
8g.143916600G>TCA463525728PLECc.13353C>A (p.Pro4451=)
c.13272C>A (p.Pro4424=)
c.12939C>A (p.Pro4313=)
c.13152C>A (p.Pro4384=)
c.13221C>A (p.Pro4407=)
c.9921C>A (p.Pro3307=)
c.13632C>A (p.Pro4544=)
c.13155C>A (p.Pro4385=)
c.13179C>A (p.Pro4393=)
c.13233C>A (p.Pro4411=)
c.13125C>A (p.Pro4375=)
c.13302C>A (p.Pro4434=)
c.13290C>A (p.Pro4430=)
c.13647C>A (p.Pro4549=)
c.13248C>A (p.Pro4416=)
c.13236C>A (p.Pro4412=)
c.13194C>A (p.Pro4398=)
c.13170C>A (p.Pro4390=)
c.13140C>A (p.Pro4380=)
c.13317C>A (p.Pro4439=)
c.13167C>A (p.Pro4389=)
c.9867C>A (p.Pro3289=)
8g.143916601G>ACA372475935PLECc.13352C>T (p.Pro4451Leu)
c.13271C>T (p.Pro4424Leu)
c.12938C>T (p.Pro4313Leu)
c.13151C>T (p.Pro4384Leu)
c.13220C>T (p.Pro4407Leu)
c.9920C>T (p.Pro3307Leu)
c.13631C>T (p.Pro4544Leu)
c.13154C>T (p.Pro4385Leu)
c.13178C>T (p.Pro4393Leu)
c.13232C>T (p.Pro4411Leu)
c.13124C>T (p.Pro4375Leu)
c.13301C>T (p.Pro4434Leu)
c.13289C>T (p.Pro4430Leu)
c.13646C>T (p.Pro4549Leu)
c.13247C>T (p.Pro4416Leu)
c.13235C>T (p.Pro4412Leu)
c.13193C>T (p.Pro4398Leu)
c.13169C>T (p.Pro4390Leu)
c.13139C>T (p.Pro4380Leu)
c.13316C>T (p.Pro4439Leu)
c.13166C>T (p.Pro4389Leu)
c.9866C>T (p.Pro3289Leu)
 ClinVar dbSNP
8g.143916601G>CCA372475936PLECc.13352C>G (p.Pro4451Arg)
c.13271C>G (p.Pro4424Arg)
c.12938C>G (p.Pro4313Arg)
c.13151C>G (p.Pro4384Arg)
c.13220C>G (p.Pro4407Arg)
c.9920C>G (p.Pro3307Arg)
c.13631C>G (p.Pro4544Arg)
c.13154C>G (p.Pro4385Arg)
c.13178C>G (p.Pro4393Arg)
c.13232C>G (p.Pro4411Arg)
c.13124C>G (p.Pro4375Arg)
c.13301C>G (p.Pro4434Arg)
c.13289C>G (p.Pro4430Arg)
c.13646C>G (p.Pro4549Arg)
c.13247C>G (p.Pro4416Arg)
c.13235C>G (p.Pro4412Arg)
c.13193C>G (p.Pro4398Arg)
c.13169C>G (p.Pro4390Arg)
c.13139C>G (p.Pro4380Arg)
c.13316C>G (p.Pro4439Arg)
c.13166C>G (p.Pro4389Arg)
c.9866C>G (p.Pro3289Arg)
 ClinVar dbSNP
8g.143916601G=CA1826037447PLECc.13352C= (p.Pro4451=)
c.13271C= (p.Pro4424=)
c.12938C= (p.Pro4313=)
c.13151C= (p.Pro4384=)
c.13220C= (p.Pro4407=)
c.9920C= (p.Pro3307=)
c.13631C= (p.Pro4544=)
c.13154C= (p.Pro4385=)
c.13178C= (p.Pro4393=)
c.13232C= (p.Pro4411=)
c.13124C= (p.Pro4375=)
c.13301C= (p.Pro4434=)
c.13289C= (p.Pro4430=)
c.13646C= (p.Pro4549=)
c.13247C= (p.Pro4416=)
c.13235C= (p.Pro4412=)
c.13193C= (p.Pro4398=)
c.13169C= (p.Pro4390=)
c.13139C= (p.Pro4380=)
c.13316C= (p.Pro4439=)
c.13166C= (p.Pro4389=)
c.9866C= (p.Pro3289=)
8g.143916601G>TCA372475938PLECc.13352C>A (p.Pro4451His)
c.13271C>A (p.Pro4424His)
c.12938C>A (p.Pro4313His)
c.13151C>A (p.Pro4384His)
c.13220C>A (p.Pro4407His)
c.9920C>A (p.Pro3307His)
c.13631C>A (p.Pro4544His)
c.13154C>A (p.Pro4385His)
c.13178C>A (p.Pro4393His)
c.13232C>A (p.Pro4411His)
c.13124C>A (p.Pro4375His)
c.13301C>A (p.Pro4434His)
c.13289C>A (p.Pro4430His)
c.13646C>A (p.Pro4549His)
c.13247C>A (p.Pro4416His)
c.13235C>A (p.Pro4412His)
c.13193C>A (p.Pro4398His)
c.13169C>A (p.Pro4390His)
c.13139C>A (p.Pro4380His)
c.13316C>A (p.Pro4439His)
c.13166C>A (p.Pro4389His)
c.9866C>A (p.Pro3289His)
 gnomAD v4
8g.143916602G>ACA372475940PLECc.13351C>T (p.Pro4451Ser)
c.13270C>T (p.Pro4424Ser)
c.12937C>T (p.Pro4313Ser)
c.13150C>T (p.Pro4384Ser)
c.13219C>T (p.Pro4407Ser)
c.9919C>T (p.Pro3307Ser)
c.13630C>T (p.Pro4544Ser)
c.13153C>T (p.Pro4385Ser)
c.13177C>T (p.Pro4393Ser)
c.13231C>T (p.Pro4411Ser)
c.13123C>T (p.Pro4375Ser)
c.13300C>T (p.Pro4434Ser)
c.13288C>T (p.Pro4430Ser)
c.13645C>T (p.Pro4549Ser)
c.13246C>T (p.Pro4416Ser)
c.13234C>T (p.Pro4412Ser)
c.13192C>T (p.Pro4398Ser)
c.13168C>T (p.Pro4390Ser)
c.13138C>T (p.Pro4380Ser)
c.13315C>T (p.Pro4439Ser)
c.13165C>T (p.Pro4389Ser)
c.9865C>T (p.Pro3289Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.143916602G>CCA4923877PLECc.13351C>G (p.Pro4451Ala)
c.13270C>G (p.Pro4424Ala)
c.12937C>G (p.Pro4313Ala)
c.13150C>G (p.Pro4384Ala)
c.13219C>G (p.Pro4407Ala)
c.9919C>G (p.Pro3307Ala)
c.13630C>G (p.Pro4544Ala)
c.13153C>G (p.Pro4385Ala)
c.13177C>G (p.Pro4393Ala)
c.13231C>G (p.Pro4411Ala)
c.13123C>G (p.Pro4375Ala)
c.13300C>G (p.Pro4434Ala)
c.13288C>G (p.Pro4430Ala)
c.13645C>G (p.Pro4549Ala)
c.13246C>G (p.Pro4416Ala)
c.13234C>G (p.Pro4412Ala)
c.13192C>G (p.Pro4398Ala)
c.13168C>G (p.Pro4390Ala)
c.13138C>G (p.Pro4380Ala)
c.13315C>G (p.Pro4439Ala)
c.13165C>G (p.Pro4389Ala)
c.9865C>G (p.Pro3289Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916602G=CA1826037450PLECc.13351C= (p.Pro4451=)
c.13270C= (p.Pro4424=)
c.12937C= (p.Pro4313=)
c.13150C= (p.Pro4384=)
c.13219C= (p.Pro4407=)
c.9919C= (p.Pro3307=)
c.13630C= (p.Pro4544=)
c.13153C= (p.Pro4385=)
c.13177C= (p.Pro4393=)
c.13231C= (p.Pro4411=)
c.13123C= (p.Pro4375=)
c.13300C= (p.Pro4434=)
c.13288C= (p.Pro4430=)
c.13645C= (p.Pro4549=)
c.13246C= (p.Pro4416=)
c.13234C= (p.Pro4412=)
c.13192C= (p.Pro4398=)
c.13168C= (p.Pro4390=)
c.13138C= (p.Pro4380=)
c.13315C= (p.Pro4439=)
c.13165C= (p.Pro4389=)
c.9865C= (p.Pro3289=)
8g.143916602G>TCA372475942PLECc.13351C>A (p.Pro4451Thr)
c.13270C>A (p.Pro4424Thr)
c.12937C>A (p.Pro4313Thr)
c.13150C>A (p.Pro4384Thr)
c.13219C>A (p.Pro4407Thr)
c.9919C>A (p.Pro3307Thr)
c.13630C>A (p.Pro4544Thr)
c.13153C>A (p.Pro4385Thr)
c.13177C>A (p.Pro4393Thr)
c.13231C>A (p.Pro4411Thr)
c.13123C>A (p.Pro4375Thr)
c.13300C>A (p.Pro4434Thr)
c.13288C>A (p.Pro4430Thr)
c.13645C>A (p.Pro4549Thr)
c.13246C>A (p.Pro4416Thr)
c.13234C>A (p.Pro4412Thr)
c.13192C>A (p.Pro4398Thr)
c.13168C>A (p.Pro4390Thr)
c.13138C>A (p.Pro4380Thr)
c.13315C>A (p.Pro4439Thr)
c.13165C>A (p.Pro4389Thr)
c.9865C>A (p.Pro3289Thr)
8g.143916602_143916603delinsAACA2573142977PLECc.13350_13351delinsTT (p.Pro4451Ser)
c.13269_13270delinsTT (p.Pro4424Ser)
c.12936_12937delinsTT (p.Pro4313Ser)
c.13149_13150delinsTT (p.Pro4384Ser)
c.13218_13219delinsTT (p.Pro4407Ser)
c.9918_9919delinsTT (p.Pro3307Ser)
c.13629_13630delinsTT (p.Pro4544Ser)
c.13152_13153delinsTT (p.Pro4385Ser)
c.13176_13177delinsTT (p.Pro4393Ser)
c.13230_13231delinsTT (p.Pro4411Ser)
c.13122_13123delinsTT (p.Pro4375Ser)
c.13299_13300delinsTT (p.Pro4434Ser)
c.13287_13288delinsTT (p.Pro4430Ser)
c.13644_13645delinsTT (p.Pro4549Ser)
c.13245_13246delinsTT (p.Pro4416Ser)
c.13233_13234delinsTT (p.Pro4412Ser)
c.13191_13192delinsTT (p.Pro4398Ser)
c.13167_13168delinsTT (p.Pro4390Ser)
c.13137_13138delinsTT (p.Pro4380Ser)
c.13314_13315delinsTT (p.Pro4439Ser)
c.13164_13165delinsTT (p.Pro4389Ser)
c.9864_9865delinsTT (p.Pro3289Ser)
 ClinVar dbSNP
8g.143916603C>ACA463525729PLECc.13350G>T (p.Val4450=)
c.13269G>T (p.Val4423=)
c.12936G>T (p.Val4312=)
c.13149G>T (p.Val4383=)
c.13218G>T (p.Val4406=)
c.9918G>T (p.Val3306=)
c.13629G>T (p.Val4543=)
c.13152G>T (p.Val4384=)
c.13176G>T (p.Val4392=)
c.13230G>T (p.Val4410=)
c.13122G>T (p.Val4374=)
c.13299G>T (p.Val4433=)
c.13287G>T (p.Val4429=)
c.13644G>T (p.Val4548=)
c.13245G>T (p.Val4415=)
c.13233G>T (p.Val4411=)
c.13191G>T (p.Val4397=)
c.13167G>T (p.Val4389=)
c.13137G>T (p.Val4379=)
c.13314G>T (p.Val4438=)
c.13164G>T (p.Val4388=)
c.9864G>T (p.Val3288=)
8g.143916603C=CA1826037453PLECc.13350G= (p.Val4450=)
c.13269G= (p.Val4423=)
c.12936G= (p.Val4312=)
c.13149G= (p.Val4383=)
c.13218G= (p.Val4406=)
c.9918G= (p.Val3306=)
c.13629G= (p.Val4543=)
c.13152G= (p.Val4384=)
c.13176G= (p.Val4392=)
c.13230G= (p.Val4410=)
c.13122G= (p.Val4374=)
c.13299G= (p.Val4433=)
c.13287G= (p.Val4429=)
c.13644G= (p.Val4548=)
c.13245G= (p.Val4415=)
c.13233G= (p.Val4411=)
c.13191G= (p.Val4397=)
c.13167G= (p.Val4389=)
c.13137G= (p.Val4379=)
c.13314G= (p.Val4438=)
c.13164G= (p.Val4388=)
c.9864G= (p.Val3288=)
8g.143916603C>GCA463525730PLECc.13350G>C (p.Val4450=)
c.13269G>C (p.Val4423=)
c.12936G>C (p.Val4312=)
c.13149G>C (p.Val4383=)
c.13218G>C (p.Val4406=)
c.9918G>C (p.Val3306=)
c.13629G>C (p.Val4543=)
c.13152G>C (p.Val4384=)
c.13176G>C (p.Val4392=)
c.13230G>C (p.Val4410=)
c.13122G>C (p.Val4374=)
c.13299G>C (p.Val4433=)
c.13287G>C (p.Val4429=)
c.13644G>C (p.Val4548=)
c.13245G>C (p.Val4415=)
c.13233G>C (p.Val4411=)
c.13191G>C (p.Val4397=)
c.13167G>C (p.Val4389=)
c.13137G>C (p.Val4379=)
c.13314G>C (p.Val4438=)
c.13164G>C (p.Val4388=)
c.9864G>C (p.Val3288=)
8g.143916603C>TCA4923878PLECc.13350G>A (p.Val4450=)
c.13269G>A (p.Val4423=)
c.12936G>A (p.Val4312=)
c.13149G>A (p.Val4383=)
c.13218G>A (p.Val4406=)
c.9918G>A (p.Val3306=)
c.13629G>A (p.Val4543=)
c.13152G>A (p.Val4384=)
c.13176G>A (p.Val4392=)
c.13230G>A (p.Val4410=)
c.13122G>A (p.Val4374=)
c.13299G>A (p.Val4433=)
c.13287G>A (p.Val4429=)
c.13644G>A (p.Val4548=)
c.13245G>A (p.Val4415=)
c.13233G>A (p.Val4411=)
c.13191G>A (p.Val4397=)
c.13167G>A (p.Val4389=)
c.13137G>A (p.Val4379=)
c.13314G>A (p.Val4438=)
c.13164G>A (p.Val4388=)
c.9864G>A (p.Val3288=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916604A>CCA372475948PLECc.13349T>G (p.Val4450Gly)
c.13268T>G (p.Val4423Gly)
c.12935T>G (p.Val4312Gly)
c.13148T>G (p.Val4383Gly)
c.13217T>G (p.Val4406Gly)
c.9917T>G (p.Val3306Gly)
c.13628T>G (p.Val4543Gly)
c.13151T>G (p.Val4384Gly)
c.13175T>G (p.Val4392Gly)
c.13229T>G (p.Val4410Gly)
c.13121T>G (p.Val4374Gly)
c.13298T>G (p.Val4433Gly)
c.13286T>G (p.Val4429Gly)
c.13643T>G (p.Val4548Gly)
c.13244T>G (p.Val4415Gly)
c.13232T>G (p.Val4411Gly)
c.13190T>G (p.Val4397Gly)
c.13166T>G (p.Val4389Gly)
c.13136T>G (p.Val4379Gly)
c.13313T>G (p.Val4438Gly)
c.13163T>G (p.Val4388Gly)
c.9863T>G (p.Val3288Gly)
8g.143916604A>GCA372475945PLECc.13349T>C (p.Val4450Ala)
c.13268T>C (p.Val4423Ala)
c.12935T>C (p.Val4312Ala)
c.13148T>C (p.Val4383Ala)
c.13217T>C (p.Val4406Ala)
c.9917T>C (p.Val3306Ala)
c.13628T>C (p.Val4543Ala)
c.13151T>C (p.Val4384Ala)
c.13175T>C (p.Val4392Ala)
c.13229T>C (p.Val4410Ala)
c.13121T>C (p.Val4374Ala)
c.13298T>C (p.Val4433Ala)
c.13286T>C (p.Val4429Ala)
c.13643T>C (p.Val4548Ala)
c.13244T>C (p.Val4415Ala)
c.13232T>C (p.Val4411Ala)
c.13190T>C (p.Val4397Ala)
c.13166T>C (p.Val4389Ala)
c.13136T>C (p.Val4379Ala)
c.13313T>C (p.Val4438Ala)
c.13163T>C (p.Val4388Ala)
c.9863T>C (p.Val3288Ala)
8g.143916604A>TCA372475947PLECc.13349T>A (p.Val4450Glu)
c.13268T>A (p.Val4423Glu)
c.12935T>A (p.Val4312Glu)
c.13148T>A (p.Val4383Glu)
c.13217T>A (p.Val4406Glu)
c.9917T>A (p.Val3306Glu)
c.13628T>A (p.Val4543Glu)
c.13151T>A (p.Val4384Glu)
c.13175T>A (p.Val4392Glu)
c.13229T>A (p.Val4410Glu)
c.13121T>A (p.Val4374Glu)
c.13298T>A (p.Val4433Glu)
c.13286T>A (p.Val4429Glu)
c.13643T>A (p.Val4548Glu)
c.13244T>A (p.Val4415Glu)
c.13232T>A (p.Val4411Glu)
c.13190T>A (p.Val4397Glu)
c.13166T>A (p.Val4389Glu)
c.13136T>A (p.Val4379Glu)
c.13313T>A (p.Val4438Glu)
c.13163T>A (p.Val4388Glu)
c.9863T>A (p.Val3288Glu)
8g.143916605C>ACA372475950PLECc.13348G>T (p.Val4450Leu)
c.13267G>T (p.Val4423Leu)
c.12934G>T (p.Val4312Leu)
c.13147G>T (p.Val4383Leu)
c.13216G>T (p.Val4406Leu)
c.9916G>T (p.Val3306Leu)
c.13627G>T (p.Val4543Leu)
c.13150G>T (p.Val4384Leu)
c.13174G>T (p.Val4392Leu)
c.13228G>T (p.Val4410Leu)
c.13120G>T (p.Val4374Leu)
c.13297G>T (p.Val4433Leu)
c.13285G>T (p.Val4429Leu)
c.13642G>T (p.Val4548Leu)
c.13243G>T (p.Val4415Leu)
c.13231G>T (p.Val4411Leu)
c.13189G>T (p.Val4397Leu)
c.13165G>T (p.Val4389Leu)
c.13135G>T (p.Val4379Leu)
c.13312G>T (p.Val4438Leu)
c.13162G>T (p.Val4388Leu)
c.9862G>T (p.Val3288Leu)
 ClinVar gnomAD v4
8g.143916605C=CA1826037456PLECc.13348G= (p.Val4450=)
c.13267G= (p.Val4423=)
c.12934G= (p.Val4312=)
c.13147G= (p.Val4383=)
c.13216G= (p.Val4406=)
c.9916G= (p.Val3306=)
c.13627G= (p.Val4543=)
c.13150G= (p.Val4384=)
c.13174G= (p.Val4392=)
c.13228G= (p.Val4410=)
c.13120G= (p.Val4374=)
c.13297G= (p.Val4433=)
c.13285G= (p.Val4429=)
c.13642G= (p.Val4548=)
c.13243G= (p.Val4415=)
c.13231G= (p.Val4411=)
c.13189G= (p.Val4397=)
c.13165G= (p.Val4389=)
c.13135G= (p.Val4379=)
c.13312G= (p.Val4438=)
c.13162G= (p.Val4388=)
c.9862G= (p.Val3288=)
8g.143916605C>GCA372475952PLECc.13348G>C (p.Val4450Leu)
c.13267G>C (p.Val4423Leu)
c.12934G>C (p.Val4312Leu)
c.13147G>C (p.Val4383Leu)
c.13216G>C (p.Val4406Leu)
c.9916G>C (p.Val3306Leu)
c.13627G>C (p.Val4543Leu)
c.13150G>C (p.Val4384Leu)
c.13174G>C (p.Val4392Leu)
c.13228G>C (p.Val4410Leu)
c.13120G>C (p.Val4374Leu)
c.13297G>C (p.Val4433Leu)
c.13285G>C (p.Val4429Leu)
c.13642G>C (p.Val4548Leu)
c.13243G>C (p.Val4415Leu)
c.13231G>C (p.Val4411Leu)
c.13189G>C (p.Val4397Leu)
c.13165G>C (p.Val4389Leu)
c.13135G>C (p.Val4379Leu)
c.13312G>C (p.Val4438Leu)
c.13162G>C (p.Val4388Leu)
c.9862G>C (p.Val3288Leu)
8g.143916605C>TCA4923879PLECc.13348G>A (p.Val4450Met)
c.13267G>A (p.Val4423Met)
c.12934G>A (p.Val4312Met)
c.13147G>A (p.Val4383Met)
c.13216G>A (p.Val4406Met)
c.9916G>A (p.Val3306Met)
c.13627G>A (p.Val4543Met)
c.13150G>A (p.Val4384Met)
c.13174G>A (p.Val4392Met)
c.13228G>A (p.Val4410Met)
c.13120G>A (p.Val4374Met)
c.13297G>A (p.Val4433Met)
c.13285G>A (p.Val4429Met)
c.13642G>A (p.Val4548Met)
c.13243G>A (p.Val4415Met)
c.13231G>A (p.Val4411Met)
c.13189G>A (p.Val4397Met)
c.13165G>A (p.Val4389Met)
c.13135G>A (p.Val4379Met)
c.13312G>A (p.Val4438Met)
c.13162G>A (p.Val4388Met)
c.9862G>A (p.Val3288Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916606G>ACA4923880PLECc.13347C>T (p.Arg4449=)
c.13266C>T (p.Arg4422=)
c.12933C>T (p.Arg4311=)
c.13146C>T (p.Arg4382=)
c.13215C>T (p.Arg4405=)
c.9915C>T (p.Arg3305=)
c.13626C>T (p.Arg4542=)
c.13149C>T (p.Arg4383=)
c.13173C>T (p.Arg4391=)
c.13227C>T (p.Arg4409=)
c.13119C>T (p.Arg4373=)
c.13296C>T (p.Arg4432=)
c.13284C>T (p.Arg4428=)
c.13641C>T (p.Arg4547=)
c.13242C>T (p.Arg4414=)
c.13230C>T (p.Arg4410=)
c.13188C>T (p.Arg4396=)
c.13164C>T (p.Arg4388=)
c.13134C>T (p.Arg4378=)
c.13311C>T (p.Arg4437=)
c.13161C>T (p.Arg4387=)
c.9861C>T (p.Arg3287=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916606G>CCA463525831PLECc.13347C>G (p.Arg4449=)
c.13266C>G (p.Arg4422=)
c.12933C>G (p.Arg4311=)
c.13146C>G (p.Arg4382=)
c.13215C>G (p.Arg4405=)
c.9915C>G (p.Arg3305=)
c.13626C>G (p.Arg4542=)
c.13149C>G (p.Arg4383=)
c.13173C>G (p.Arg4391=)
c.13227C>G (p.Arg4409=)
c.13119C>G (p.Arg4373=)
c.13296C>G (p.Arg4432=)
c.13284C>G (p.Arg4428=)
c.13641C>G (p.Arg4547=)
c.13242C>G (p.Arg4414=)
c.13230C>G (p.Arg4410=)
c.13188C>G (p.Arg4396=)
c.13164C>G (p.Arg4388=)
c.13134C>G (p.Arg4378=)
c.13311C>G (p.Arg4437=)
c.13161C>G (p.Arg4387=)
c.9861C>G (p.Arg3287=)
8g.143916606G=CA1826037459PLECc.13347C= (p.Arg4449=)
c.13266C= (p.Arg4422=)
c.12933C= (p.Arg4311=)
c.13146C= (p.Arg4382=)
c.13215C= (p.Arg4405=)
c.9915C= (p.Arg3305=)
c.13626C= (p.Arg4542=)
c.13149C= (p.Arg4383=)
c.13173C= (p.Arg4391=)
c.13227C= (p.Arg4409=)
c.13119C= (p.Arg4373=)
c.13296C= (p.Arg4432=)
c.13284C= (p.Arg4428=)
c.13641C= (p.Arg4547=)
c.13242C= (p.Arg4414=)
c.13230C= (p.Arg4410=)
c.13188C= (p.Arg4396=)
c.13164C= (p.Arg4388=)
c.13134C= (p.Arg4378=)
c.13311C= (p.Arg4437=)
c.13161C= (p.Arg4387=)
c.9861C= (p.Arg3287=)
8g.143916606G>TCA463525833PLECc.13347C>A (p.Arg4449=)
c.13266C>A (p.Arg4422=)
c.12933C>A (p.Arg4311=)
c.13146C>A (p.Arg4382=)
c.13215C>A (p.Arg4405=)
c.9915C>A (p.Arg3305=)
c.13626C>A (p.Arg4542=)
c.13149C>A (p.Arg4383=)
c.13173C>A (p.Arg4391=)
c.13227C>A (p.Arg4409=)
c.13119C>A (p.Arg4373=)
c.13296C>A (p.Arg4432=)
c.13284C>A (p.Arg4428=)
c.13641C>A (p.Arg4547=)
c.13242C>A (p.Arg4414=)
c.13230C>A (p.Arg4410=)
c.13188C>A (p.Arg4396=)
c.13164C>A (p.Arg4388=)
c.13134C>A (p.Arg4378=)
c.13311C>A (p.Arg4437=)
c.13161C>A (p.Arg4387=)
c.9861C>A (p.Arg3287=)
 dbSNP
8g.143916607C>ACA372475954PLECc.13346G>T (p.Arg4449Leu)
c.13265G>T (p.Arg4422Leu)
c.12932G>T (p.Arg4311Leu)
c.13145G>T (p.Arg4382Leu)
c.13214G>T (p.Arg4405Leu)
c.9914G>T (p.Arg3305Leu)
c.13625G>T (p.Arg4542Leu)
c.13148G>T (p.Arg4383Leu)
c.13172G>T (p.Arg4391Leu)
c.13226G>T (p.Arg4409Leu)
c.13118G>T (p.Arg4373Leu)
c.13295G>T (p.Arg4432Leu)
c.13283G>T (p.Arg4428Leu)
c.13640G>T (p.Arg4547Leu)
c.13241G>T (p.Arg4414Leu)
c.13229G>T (p.Arg4410Leu)
c.13187G>T (p.Arg4396Leu)
c.13163G>T (p.Arg4388Leu)
c.13133G>T (p.Arg4378Leu)
c.13310G>T (p.Arg4437Leu)
c.13160G>T (p.Arg4387Leu)
c.9860G>T (p.Arg3287Leu)
8g.143916607C=CA1826037464PLECc.13346G= (p.Arg4449=)
c.13265G= (p.Arg4422=)
c.12932G= (p.Arg4311=)
c.13145G= (p.Arg4382=)
c.13214G= (p.Arg4405=)
c.9914G= (p.Arg3305=)
c.13625G= (p.Arg4542=)
c.13148G= (p.Arg4383=)
c.13172G= (p.Arg4391=)
c.13226G= (p.Arg4409=)
c.13118G= (p.Arg4373=)
c.13295G= (p.Arg4432=)
c.13283G= (p.Arg4428=)
c.13640G= (p.Arg4547=)
c.13241G= (p.Arg4414=)
c.13229G= (p.Arg4410=)
c.13187G= (p.Arg4396=)
c.13163G= (p.Arg4388=)
c.13133G= (p.Arg4378=)
c.13310G= (p.Arg4437=)
c.13160G= (p.Arg4387=)
c.9860G= (p.Arg3287=)
8g.143916607C>GCA372475956PLECc.13346G>C (p.Arg4449Pro)
c.13265G>C (p.Arg4422Pro)
c.12932G>C (p.Arg4311Pro)
c.13145G>C (p.Arg4382Pro)
c.13214G>C (p.Arg4405Pro)
c.9914G>C (p.Arg3305Pro)
c.13625G>C (p.Arg4542Pro)
c.13148G>C (p.Arg4383Pro)
c.13172G>C (p.Arg4391Pro)
c.13226G>C (p.Arg4409Pro)
c.13118G>C (p.Arg4373Pro)
c.13295G>C (p.Arg4432Pro)
c.13283G>C (p.Arg4428Pro)
c.13640G>C (p.Arg4547Pro)
c.13241G>C (p.Arg4414Pro)
c.13229G>C (p.Arg4410Pro)
c.13187G>C (p.Arg4396Pro)
c.13163G>C (p.Arg4388Pro)
c.13133G>C (p.Arg4378Pro)
c.13310G>C (p.Arg4437Pro)
c.13160G>C (p.Arg4387Pro)
c.9860G>C (p.Arg3287Pro)
8g.143916607C>TCA372475958PLECc.13346G>A (p.Arg4449His)
c.13265G>A (p.Arg4422His)
c.12932G>A (p.Arg4311His)
c.13145G>A (p.Arg4382His)
c.13214G>A (p.Arg4405His)
c.9914G>A (p.Arg3305His)
c.13625G>A (p.Arg4542His)
c.13148G>A (p.Arg4383His)
c.13172G>A (p.Arg4391His)
c.13226G>A (p.Arg4409His)
c.13118G>A (p.Arg4373His)
c.13295G>A (p.Arg4432His)
c.13283G>A (p.Arg4428His)
c.13640G>A (p.Arg4547His)
c.13241G>A (p.Arg4414His)
c.13229G>A (p.Arg4410His)
c.13187G>A (p.Arg4396His)
c.13163G>A (p.Arg4388His)
c.13133G>A (p.Arg4378His)
c.13310G>A (p.Arg4437His)
c.13160G>A (p.Arg4387His)
c.9860G>A (p.Arg3287His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.143916608G>ACA4923881PLECc.13345C>T (p.Arg4449Cys)
c.13264C>T (p.Arg4422Cys)
c.12931C>T (p.Arg4311Cys)
c.13144C>T (p.Arg4382Cys)
c.13213C>T (p.Arg4405Cys)
c.9913C>T (p.Arg3305Cys)
c.13624C>T (p.Arg4542Cys)
c.13147C>T (p.Arg4383Cys)
c.13171C>T (p.Arg4391Cys)
c.13225C>T (p.Arg4409Cys)
c.13117C>T (p.Arg4373Cys)
c.13294C>T (p.Arg4432Cys)
c.13282C>T (p.Arg4428Cys)
c.13639C>T (p.Arg4547Cys)
c.13240C>T (p.Arg4414Cys)
c.13228C>T (p.Arg4410Cys)
c.13186C>T (p.Arg4396Cys)
c.13162C>T (p.Arg4388Cys)
c.13132C>T (p.Arg4378Cys)
c.13309C>T (p.Arg4437Cys)
c.13159C>T (p.Arg4387Cys)
c.9859C>T (p.Arg3287Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916608G>CCA372475960PLECc.13345C>G (p.Arg4449Gly)
c.13264C>G (p.Arg4422Gly)
c.12931C>G (p.Arg4311Gly)
c.13144C>G (p.Arg4382Gly)
c.13213C>G (p.Arg4405Gly)
c.9913C>G (p.Arg3305Gly)
c.13624C>G (p.Arg4542Gly)
c.13147C>G (p.Arg4383Gly)
c.13171C>G (p.Arg4391Gly)
c.13225C>G (p.Arg4409Gly)
c.13117C>G (p.Arg4373Gly)
c.13294C>G (p.Arg4432Gly)
c.13282C>G (p.Arg4428Gly)
c.13639C>G (p.Arg4547Gly)
c.13240C>G (p.Arg4414Gly)
c.13228C>G (p.Arg4410Gly)
c.13186C>G (p.Arg4396Gly)
c.13162C>G (p.Arg4388Gly)
c.13132C>G (p.Arg4378Gly)
c.13309C>G (p.Arg4437Gly)
c.13159C>G (p.Arg4387Gly)
c.9859C>G (p.Arg3287Gly)
8g.143916608G=CA1826037467PLECc.13345C= (p.Arg4449=)
c.13264C= (p.Arg4422=)
c.12931C= (p.Arg4311=)
c.13144C= (p.Arg4382=)
c.13213C= (p.Arg4405=)
c.9913C= (p.Arg3305=)
c.13624C= (p.Arg4542=)
c.13147C= (p.Arg4383=)
c.13171C= (p.Arg4391=)
c.13225C= (p.Arg4409=)
c.13117C= (p.Arg4373=)
c.13294C= (p.Arg4432=)
c.13282C= (p.Arg4428=)
c.13639C= (p.Arg4547=)
c.13240C= (p.Arg4414=)
c.13228C= (p.Arg4410=)
c.13186C= (p.Arg4396=)
c.13162C= (p.Arg4388=)
c.13132C= (p.Arg4378=)
c.13309C= (p.Arg4437=)
c.13159C= (p.Arg4387=)
c.9859C= (p.Arg3287=)
8g.143916608G>TCA372475962PLECc.13345C>A (p.Arg4449Ser)
c.13264C>A (p.Arg4422Ser)
c.12931C>A (p.Arg4311Ser)
c.13144C>A (p.Arg4382Ser)
c.13213C>A (p.Arg4405Ser)
c.9913C>A (p.Arg3305Ser)
c.13624C>A (p.Arg4542Ser)
c.13147C>A (p.Arg4383Ser)
c.13171C>A (p.Arg4391Ser)
c.13225C>A (p.Arg4409Ser)
c.13117C>A (p.Arg4373Ser)
c.13294C>A (p.Arg4432Ser)
c.13282C>A (p.Arg4428Ser)
c.13639C>A (p.Arg4547Ser)
c.13240C>A (p.Arg4414Ser)
c.13228C>A (p.Arg4410Ser)
c.13186C>A (p.Arg4396Ser)
c.13162C>A (p.Arg4388Ser)
c.13132C>A (p.Arg4378Ser)
c.13309C>A (p.Arg4437Ser)
c.13159C>A (p.Arg4387Ser)
c.9859C>A (p.Arg3287Ser)
8g.143916609G>ACA4923882PLECc.13344C>T (p.Gly4448=)
c.13263C>T (p.Gly4421=)
c.12930C>T (p.Gly4310=)
c.13143C>T (p.Gly4381=)
c.13212C>T (p.Gly4404=)
c.9912C>T (p.Gly3304=)
c.13623C>T (p.Gly4541=)
c.13146C>T (p.Gly4382=)
c.13170C>T (p.Gly4390=)
c.13224C>T (p.Gly4408=)
c.13116C>T (p.Gly4372=)
c.13293C>T (p.Gly4431=)
c.13281C>T (p.Gly4427=)
c.13638C>T (p.Gly4546=)
c.13239C>T (p.Gly4413=)
c.13227C>T (p.Gly4409=)
c.13185C>T (p.Gly4395=)
c.13161C>T (p.Gly4387=)
c.13131C>T (p.Gly4377=)
c.13308C>T (p.Gly4436=)
c.13158C>T (p.Gly4386=)
c.9858C>T (p.Gly3286=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916609G>CCA463525836PLECc.13344C>G (p.Gly4448=)
c.13263C>G (p.Gly4421=)
c.12930C>G (p.Gly4310=)
c.13143C>G (p.Gly4381=)
c.13212C>G (p.Gly4404=)
c.9912C>G (p.Gly3304=)
c.13623C>G (p.Gly4541=)
c.13146C>G (p.Gly4382=)
c.13170C>G (p.Gly4390=)
c.13224C>G (p.Gly4408=)
c.13116C>G (p.Gly4372=)
c.13293C>G (p.Gly4431=)
c.13281C>G (p.Gly4427=)
c.13638C>G (p.Gly4546=)
c.13239C>G (p.Gly4413=)
c.13227C>G (p.Gly4409=)
c.13185C>G (p.Gly4395=)
c.13161C>G (p.Gly4387=)
c.13131C>G (p.Gly4377=)
c.13308C>G (p.Gly4436=)
c.13158C>G (p.Gly4386=)
c.9858C>G (p.Gly3286=)
8g.143916609G=CA1826037469PLECc.13344C= (p.Gly4448=)
c.13263C= (p.Gly4421=)
c.12930C= (p.Gly4310=)
c.13143C= (p.Gly4381=)
c.13212C= (p.Gly4404=)
c.9912C= (p.Gly3304=)
c.13623C= (p.Gly4541=)
c.13146C= (p.Gly4382=)
c.13170C= (p.Gly4390=)
c.13224C= (p.Gly4408=)
c.13116C= (p.Gly4372=)
c.13293C= (p.Gly4431=)
c.13281C= (p.Gly4427=)
c.13638C= (p.Gly4546=)
c.13239C= (p.Gly4413=)
c.13227C= (p.Gly4409=)
c.13185C= (p.Gly4395=)
c.13161C= (p.Gly4387=)
c.13131C= (p.Gly4377=)
c.13308C= (p.Gly4436=)
c.13158C= (p.Gly4386=)
c.9858C= (p.Gly3286=)
8g.143916609G>TCA463525835PLECc.13344C>A (p.Gly4448=)
c.13263C>A (p.Gly4421=)
c.12930C>A (p.Gly4310=)
c.13143C>A (p.Gly4381=)
c.13212C>A (p.Gly4404=)
c.9912C>A (p.Gly3304=)
c.13623C>A (p.Gly4541=)
c.13146C>A (p.Gly4382=)
c.13170C>A (p.Gly4390=)
c.13224C>A (p.Gly4408=)
c.13116C>A (p.Gly4372=)
c.13293C>A (p.Gly4431=)
c.13281C>A (p.Gly4427=)
c.13638C>A (p.Gly4546=)
c.13239C>A (p.Gly4413=)
c.13227C>A (p.Gly4409=)
c.13185C>A (p.Gly4395=)
c.13161C>A (p.Gly4387=)
c.13131C>A (p.Gly4377=)
c.13308C>A (p.Gly4436=)
c.13158C>A (p.Gly4386=)
c.9858C>A (p.Gly3286=)
8g.143916610C>ACA372475968PLECc.13343G>T (p.Gly4448Val)
c.13262G>T (p.Gly4421Val)
c.12929G>T (p.Gly4310Val)
c.13142G>T (p.Gly4381Val)
c.13211G>T (p.Gly4404Val)
c.9911G>T (p.Gly3304Val)
c.13622G>T (p.Gly4541Val)
c.13145G>T (p.Gly4382Val)
c.13169G>T (p.Gly4390Val)
c.13223G>T (p.Gly4408Val)
c.13115G>T (p.Gly4372Val)
c.13292G>T (p.Gly4431Val)
c.13280G>T (p.Gly4427Val)
c.13637G>T (p.Gly4546Val)
c.13238G>T (p.Gly4413Val)
c.13226G>T (p.Gly4409Val)
c.13184G>T (p.Gly4395Val)
c.13160G>T (p.Gly4387Val)
c.13130G>T (p.Gly4377Val)
c.13307G>T (p.Gly4436Val)
c.13157G>T (p.Gly4386Val)
c.9857G>T (p.Gly3286Val)
8g.143916610C>GCA372475966PLECc.13343G>C (p.Gly4448Ala)
c.13262G>C (p.Gly4421Ala)
c.12929G>C (p.Gly4310Ala)
c.13142G>C (p.Gly4381Ala)
c.13211G>C (p.Gly4404Ala)
c.9911G>C (p.Gly3304Ala)
c.13622G>C (p.Gly4541Ala)
c.13145G>C (p.Gly4382Ala)
c.13169G>C (p.Gly4390Ala)
c.13223G>C (p.Gly4408Ala)
c.13115G>C (p.Gly4372Ala)
c.13292G>C (p.Gly4431Ala)
c.13280G>C (p.Gly4427Ala)
c.13637G>C (p.Gly4546Ala)
c.13238G>C (p.Gly4413Ala)
c.13226G>C (p.Gly4409Ala)
c.13184G>C (p.Gly4395Ala)
c.13160G>C (p.Gly4387Ala)
c.13130G>C (p.Gly4377Ala)
c.13307G>C (p.Gly4436Ala)
c.13157G>C (p.Gly4386Ala)
c.9857G>C (p.Gly3286Ala)
 ClinVar
8g.143916610C>TCA372475964PLECc.13343G>A (p.Gly4448Asp)
c.13262G>A (p.Gly4421Asp)
c.12929G>A (p.Gly4310Asp)
c.13142G>A (p.Gly4381Asp)
c.13211G>A (p.Gly4404Asp)
c.9911G>A (p.Gly3304Asp)
c.13622G>A (p.Gly4541Asp)
c.13145G>A (p.Gly4382Asp)
c.13169G>A (p.Gly4390Asp)
c.13223G>A (p.Gly4408Asp)
c.13115G>A (p.Gly4372Asp)
c.13292G>A (p.Gly4431Asp)
c.13280G>A (p.Gly4427Asp)
c.13637G>A (p.Gly4546Asp)
c.13238G>A (p.Gly4413Asp)
c.13226G>A (p.Gly4409Asp)
c.13184G>A (p.Gly4395Asp)
c.13160G>A (p.Gly4387Asp)
c.13130G>A (p.Gly4377Asp)
c.13307G>A (p.Gly4436Asp)
c.13157G>A (p.Gly4386Asp)
c.9857G>A (p.Gly3286Asp)
8g.143916611C>ACA372475969PLECc.13342G>T (p.Gly4448Cys)
c.13261G>T (p.Gly4421Cys)
c.12928G>T (p.Gly4310Cys)
c.13141G>T (p.Gly4381Cys)
c.13210G>T (p.Gly4404Cys)
c.9910G>T (p.Gly3304Cys)
c.13621G>T (p.Gly4541Cys)
c.13144G>T (p.Gly4382Cys)
c.13168G>T (p.Gly4390Cys)
c.13222G>T (p.Gly4408Cys)
c.13114G>T (p.Gly4372Cys)
c.13291G>T (p.Gly4431Cys)
c.13279G>T (p.Gly4427Cys)
c.13636G>T (p.Gly4546Cys)
c.13237G>T (p.Gly4413Cys)
c.13225G>T (p.Gly4409Cys)
c.13183G>T (p.Gly4395Cys)
c.13159G>T (p.Gly4387Cys)
c.13129G>T (p.Gly4377Cys)
c.13306G>T (p.Gly4436Cys)
c.13156G>T (p.Gly4386Cys)
c.9856G>T (p.Gly3286Cys)
8g.143916611C=CA1826037473PLECc.13342G= (p.Gly4448=)
c.13261G= (p.Gly4421=)
c.12928G= (p.Gly4310=)
c.13141G= (p.Gly4381=)
c.13210G= (p.Gly4404=)
c.9910G= (p.Gly3304=)
c.13621G= (p.Gly4541=)
c.13144G= (p.Gly4382=)
c.13168G= (p.Gly4390=)
c.13222G= (p.Gly4408=)
c.13114G= (p.Gly4372=)
c.13291G= (p.Gly4431=)
c.13279G= (p.Gly4427=)
c.13636G= (p.Gly4546=)
c.13237G= (p.Gly4413=)
c.13225G= (p.Gly4409=)
c.13183G= (p.Gly4395=)
c.13159G= (p.Gly4387=)
c.13129G= (p.Gly4377=)
c.13306G= (p.Gly4436=)
c.13156G= (p.Gly4386=)
c.9856G= (p.Gly3286=)
8g.143916611C>GCA372475972PLECc.13342G>C (p.Gly4448Arg)
c.13261G>C (p.Gly4421Arg)
c.12928G>C (p.Gly4310Arg)
c.13141G>C (p.Gly4381Arg)
c.13210G>C (p.Gly4404Arg)
c.9910G>C (p.Gly3304Arg)
c.13621G>C (p.Gly4541Arg)
c.13144G>C (p.Gly4382Arg)
c.13168G>C (p.Gly4390Arg)
c.13222G>C (p.Gly4408Arg)
c.13114G>C (p.Gly4372Arg)
c.13291G>C (p.Gly4431Arg)
c.13279G>C (p.Gly4427Arg)
c.13636G>C (p.Gly4546Arg)
c.13237G>C (p.Gly4413Arg)
c.13225G>C (p.Gly4409Arg)
c.13183G>C (p.Gly4395Arg)
c.13159G>C (p.Gly4387Arg)
c.13129G>C (p.Gly4377Arg)
c.13306G>C (p.Gly4436Arg)
c.13156G>C (p.Gly4386Arg)
c.9856G>C (p.Gly3286Arg)
8g.143916611C>TCA372475970PLECc.13342G>A (p.Gly4448Ser)
c.13261G>A (p.Gly4421Ser)
c.12928G>A (p.Gly4310Ser)
c.13141G>A (p.Gly4381Ser)
c.13210G>A (p.Gly4404Ser)
c.9910G>A (p.Gly3304Ser)
c.13621G>A (p.Gly4541Ser)
c.13144G>A (p.Gly4382Ser)
c.13168G>A (p.Gly4390Ser)
c.13222G>A (p.Gly4408Ser)
c.13114G>A (p.Gly4372Ser)
c.13291G>A (p.Gly4431Ser)
c.13279G>A (p.Gly4427Ser)
c.13636G>A (p.Gly4546Ser)
c.13237G>A (p.Gly4413Ser)
c.13225G>A (p.Gly4409Ser)
c.13183G>A (p.Gly4395Ser)
c.13159G>A (p.Gly4387Ser)
c.13129G>A (p.Gly4377Ser)
c.13306G>A (p.Gly4436Ser)
c.13156G>A (p.Gly4386Ser)
c.9856G>A (p.Gly3286Ser)
 ClinVar dbSNP gnomAD v4
8g.143916612C>ACA463525838PLECc.13341G>T (p.Pro4447=)
c.13260G>T (p.Pro4420=)
c.12927G>T (p.Pro4309=)
c.13140G>T (p.Pro4380=)
c.13209G>T (p.Pro4403=)
c.9909G>T (p.Pro3303=)
c.13620G>T (p.Pro4540=)
c.13143G>T (p.Pro4381=)
c.13167G>T (p.Pro4389=)
c.13221G>T (p.Pro4407=)
c.13113G>T (p.Pro4371=)
c.13290G>T (p.Pro4430=)
c.13278G>T (p.Pro4426=)
c.13635G>T (p.Pro4545=)
c.13236G>T (p.Pro4412=)
c.13224G>T (p.Pro4408=)
c.13182G>T (p.Pro4394=)
c.13158G>T (p.Pro4386=)
c.13128G>T (p.Pro4376=)
c.13305G>T (p.Pro4435=)
c.13155G>T (p.Pro4385=)
c.9855G>T (p.Pro3285=)
8g.143916612C=CA1826037478PLECc.13341G= (p.Pro4447=)
c.13260G= (p.Pro4420=)
c.12927G= (p.Pro4309=)
c.13140G= (p.Pro4380=)
c.13209G= (p.Pro4403=)
c.9909G= (p.Pro3303=)
c.13620G= (p.Pro4540=)
c.13143G= (p.Pro4381=)
c.13167G= (p.Pro4389=)
c.13221G= (p.Pro4407=)
c.13113G= (p.Pro4371=)
c.13290G= (p.Pro4430=)
c.13278G= (p.Pro4426=)
c.13635G= (p.Pro4545=)
c.13236G= (p.Pro4412=)
c.13224G= (p.Pro4408=)
c.13182G= (p.Pro4394=)
c.13158G= (p.Pro4386=)
c.13128G= (p.Pro4376=)
c.13305G= (p.Pro4435=)
c.13155G= (p.Pro4385=)
c.9855G= (p.Pro3285=)
8g.143916612C>GCA463525840PLECc.13341G>C (p.Pro4447=)
c.13260G>C (p.Pro4420=)
c.12927G>C (p.Pro4309=)
c.13140G>C (p.Pro4380=)
c.13209G>C (p.Pro4403=)
c.9909G>C (p.Pro3303=)
c.13620G>C (p.Pro4540=)
c.13143G>C (p.Pro4381=)
c.13167G>C (p.Pro4389=)
c.13221G>C (p.Pro4407=)
c.13113G>C (p.Pro4371=)
c.13290G>C (p.Pro4430=)
c.13278G>C (p.Pro4426=)
c.13635G>C (p.Pro4545=)
c.13236G>C (p.Pro4412=)
c.13224G>C (p.Pro4408=)
c.13182G>C (p.Pro4394=)
c.13158G>C (p.Pro4386=)
c.13128G>C (p.Pro4376=)
c.13305G>C (p.Pro4435=)
c.13155G>C (p.Pro4385=)
c.9855G>C (p.Pro3285=)
8g.143916612C>TCA4923883PLECc.13341G>A (p.Pro4447=)
c.13260G>A (p.Pro4420=)
c.12927G>A (p.Pro4309=)
c.13140G>A (p.Pro4380=)
c.13209G>A (p.Pro4403=)
c.9909G>A (p.Pro3303=)
c.13620G>A (p.Pro4540=)
c.13143G>A (p.Pro4381=)
c.13167G>A (p.Pro4389=)
c.13221G>A (p.Pro4407=)
c.13113G>A (p.Pro4371=)
c.13290G>A (p.Pro4430=)
c.13278G>A (p.Pro4426=)
c.13635G>A (p.Pro4545=)
c.13236G>A (p.Pro4412=)
c.13224G>A (p.Pro4408=)
c.13182G>A (p.Pro4394=)
c.13158G>A (p.Pro4386=)
c.13128G>A (p.Pro4376=)
c.13305G>A (p.Pro4435=)
c.13155G>A (p.Pro4385=)
c.9855G>A (p.Pro3285=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916613G>ACA4923885PLECc.13340C>T (p.Pro4447Leu)
c.13259C>T (p.Pro4420Leu)
c.12926C>T (p.Pro4309Leu)
c.13139C>T (p.Pro4380Leu)
c.13208C>T (p.Pro4403Leu)
c.9908C>T (p.Pro3303Leu)
c.13619C>T (p.Pro4540Leu)
c.13142C>T (p.Pro4381Leu)
c.13166C>T (p.Pro4389Leu)
c.13220C>T (p.Pro4407Leu)
c.13112C>T (p.Pro4371Leu)
c.13289C>T (p.Pro4430Leu)
c.13277C>T (p.Pro4426Leu)
c.13634C>T (p.Pro4545Leu)
c.13235C>T (p.Pro4412Leu)
c.13223C>T (p.Pro4408Leu)
c.13181C>T (p.Pro4394Leu)
c.13157C>T (p.Pro4386Leu)
c.13127C>T (p.Pro4376Leu)
c.13304C>T (p.Pro4435Leu)
c.13154C>T (p.Pro4385Leu)
c.9854C>T (p.Pro3285Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916613G>CCA372475975PLECc.13340C>G (p.Pro4447Arg)
c.13259C>G (p.Pro4420Arg)
c.12926C>G (p.Pro4309Arg)
c.13139C>G (p.Pro4380Arg)
c.13208C>G (p.Pro4403Arg)
c.9908C>G (p.Pro3303Arg)
c.13619C>G (p.Pro4540Arg)
c.13142C>G (p.Pro4381Arg)
c.13166C>G (p.Pro4389Arg)
c.13220C>G (p.Pro4407Arg)
c.13112C>G (p.Pro4371Arg)
c.13289C>G (p.Pro4430Arg)
c.13277C>G (p.Pro4426Arg)
c.13634C>G (p.Pro4545Arg)
c.13235C>G (p.Pro4412Arg)
c.13223C>G (p.Pro4408Arg)
c.13181C>G (p.Pro4394Arg)
c.13157C>G (p.Pro4386Arg)
c.13127C>G (p.Pro4376Arg)
c.13304C>G (p.Pro4435Arg)
c.13154C>G (p.Pro4385Arg)
c.9854C>G (p.Pro3285Arg)
8g.143916613G=CA1826037483PLECc.13340C= (p.Pro4447=)
c.13259C= (p.Pro4420=)
c.12926C= (p.Pro4309=)
c.13139C= (p.Pro4380=)
c.13208C= (p.Pro4403=)
c.9908C= (p.Pro3303=)
c.13619C= (p.Pro4540=)
c.13142C= (p.Pro4381=)
c.13166C= (p.Pro4389=)
c.13220C= (p.Pro4407=)
c.13112C= (p.Pro4371=)
c.13289C= (p.Pro4430=)
c.13277C= (p.Pro4426=)
c.13634C= (p.Pro4545=)
c.13235C= (p.Pro4412=)
c.13223C= (p.Pro4408=)
c.13181C= (p.Pro4394=)
c.13157C= (p.Pro4386=)
c.13127C= (p.Pro4376=)
c.13304C= (p.Pro4435=)
c.13154C= (p.Pro4385=)
c.9854C= (p.Pro3285=)
8g.143916613G>TCA4923884PLECc.13340C>A (p.Pro4447Gln)
c.13259C>A (p.Pro4420Gln)
c.12926C>A (p.Pro4309Gln)
c.13139C>A (p.Pro4380Gln)
c.13208C>A (p.Pro4403Gln)
c.9908C>A (p.Pro3303Gln)
c.13619C>A (p.Pro4540Gln)
c.13142C>A (p.Pro4381Gln)
c.13166C>A (p.Pro4389Gln)
c.13220C>A (p.Pro4407Gln)
c.13112C>A (p.Pro4371Gln)
c.13289C>A (p.Pro4430Gln)
c.13277C>A (p.Pro4426Gln)
c.13634C>A (p.Pro4545Gln)
c.13235C>A (p.Pro4412Gln)
c.13223C>A (p.Pro4408Gln)
c.13181C>A (p.Pro4394Gln)
c.13157C>A (p.Pro4386Gln)
c.13127C>A (p.Pro4376Gln)
c.13304C>A (p.Pro4435Gln)
c.13154C>A (p.Pro4385Gln)
c.9854C>A (p.Pro3285Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916614G>ACA372475979PLECc.13339C>T (p.Pro4447Ser)
c.13258C>T (p.Pro4420Ser)
c.12925C>T (p.Pro4309Ser)
c.13138C>T (p.Pro4380Ser)
c.13207C>T (p.Pro4403Ser)
c.9907C>T (p.Pro3303Ser)
c.13618C>T (p.Pro4540Ser)
c.13141C>T (p.Pro4381Ser)
c.13165C>T (p.Pro4389Ser)
c.13219C>T (p.Pro4407Ser)
c.13111C>T (p.Pro4371Ser)
c.13288C>T (p.Pro4430Ser)
c.13276C>T (p.Pro4426Ser)
c.13633C>T (p.Pro4545Ser)
c.13234C>T (p.Pro4412Ser)
c.13222C>T (p.Pro4408Ser)
c.13180C>T (p.Pro4394Ser)
c.13156C>T (p.Pro4386Ser)
c.13126C>T (p.Pro4376Ser)
c.13303C>T (p.Pro4435Ser)
c.13153C>T (p.Pro4385Ser)
c.9853C>T (p.Pro3285Ser)
8g.143916614G>CCA372475980PLECc.13339C>G (p.Pro4447Ala)
c.13258C>G (p.Pro4420Ala)
c.12925C>G (p.Pro4309Ala)
c.13138C>G (p.Pro4380Ala)
c.13207C>G (p.Pro4403Ala)
c.9907C>G (p.Pro3303Ala)
c.13618C>G (p.Pro4540Ala)
c.13141C>G (p.Pro4381Ala)
c.13165C>G (p.Pro4389Ala)
c.13219C>G (p.Pro4407Ala)
c.13111C>G (p.Pro4371Ala)
c.13288C>G (p.Pro4430Ala)
c.13276C>G (p.Pro4426Ala)
c.13633C>G (p.Pro4545Ala)
c.13234C>G (p.Pro4412Ala)
c.13222C>G (p.Pro4408Ala)
c.13180C>G (p.Pro4394Ala)
c.13156C>G (p.Pro4386Ala)
c.13126C>G (p.Pro4376Ala)
c.13303C>G (p.Pro4435Ala)
c.13153C>G (p.Pro4385Ala)
c.9853C>G (p.Pro3285Ala)
8g.143916614G>TCA372475983PLECc.13339C>A (p.Pro4447Thr)
c.13258C>A (p.Pro4420Thr)
c.12925C>A (p.Pro4309Thr)
c.13138C>A (p.Pro4380Thr)
c.13207C>A (p.Pro4403Thr)
c.9907C>A (p.Pro3303Thr)
c.13618C>A (p.Pro4540Thr)
c.13141C>A (p.Pro4381Thr)
c.13165C>A (p.Pro4389Thr)
c.13219C>A (p.Pro4407Thr)
c.13111C>A (p.Pro4371Thr)
c.13288C>A (p.Pro4430Thr)
c.13276C>A (p.Pro4426Thr)
c.13633C>A (p.Pro4545Thr)
c.13234C>A (p.Pro4412Thr)
c.13222C>A (p.Pro4408Thr)
c.13180C>A (p.Pro4394Thr)
c.13156C>A (p.Pro4386Thr)
c.13126C>A (p.Pro4376Thr)
c.13303C>A (p.Pro4435Thr)
c.13153C>A (p.Pro4385Thr)
c.9853C>A (p.Pro3285Thr)
8g.143916615C>ACA463525844PLECc.13338G>T (p.Thr4446=)
c.13257G>T (p.Thr4419=)
c.12924G>T (p.Thr4308=)
c.13137G>T (p.Thr4379=)
c.13206G>T (p.Thr4402=)
c.9906G>T (p.Thr3302=)
c.13617G>T (p.Thr4539=)
c.13140G>T (p.Thr4380=)
c.13164G>T (p.Thr4388=)
c.13218G>T (p.Thr4406=)
c.13110G>T (p.Thr4370=)
c.13287G>T (p.Thr4429=)
c.13275G>T (p.Thr4425=)
c.13632G>T (p.Thr4544=)
c.13233G>T (p.Thr4411=)
c.13221G>T (p.Thr4407=)
c.13179G>T (p.Thr4393=)
c.13155G>T (p.Thr4385=)
c.13125G>T (p.Thr4375=)
c.13302G>T (p.Thr4434=)
c.13152G>T (p.Thr4384=)
c.9852G>T (p.Thr3284=)
 dbSNP
8g.143916615C=CA1826037486PLECc.13338G= (p.Thr4446=)
c.13257G= (p.Thr4419=)
c.12924G= (p.Thr4308=)
c.13137G= (p.Thr4379=)
c.13206G= (p.Thr4402=)
c.9906G= (p.Thr3302=)
c.13617G= (p.Thr4539=)
c.13140G= (p.Thr4380=)
c.13164G= (p.Thr4388=)
c.13218G= (p.Thr4406=)
c.13110G= (p.Thr4370=)
c.13287G= (p.Thr4429=)
c.13275G= (p.Thr4425=)
c.13632G= (p.Thr4544=)
c.13233G= (p.Thr4411=)
c.13221G= (p.Thr4407=)
c.13179G= (p.Thr4393=)
c.13155G= (p.Thr4385=)
c.13125G= (p.Thr4375=)
c.13302G= (p.Thr4434=)
c.13152G= (p.Thr4384=)
c.9852G= (p.Thr3284=)
8g.143916615C>GCA463525845PLECc.13338G>C (p.Thr4446=)
c.13257G>C (p.Thr4419=)
c.12924G>C (p.Thr4308=)
c.13137G>C (p.Thr4379=)
c.13206G>C (p.Thr4402=)
c.9906G>C (p.Thr3302=)
c.13617G>C (p.Thr4539=)
c.13140G>C (p.Thr4380=)
c.13164G>C (p.Thr4388=)
c.13218G>C (p.Thr4406=)
c.13110G>C (p.Thr4370=)
c.13287G>C (p.Thr4429=)
c.13275G>C (p.Thr4425=)
c.13632G>C (p.Thr4544=)
c.13233G>C (p.Thr4411=)
c.13221G>C (p.Thr4407=)
c.13179G>C (p.Thr4393=)
c.13155G>C (p.Thr4385=)
c.13125G>C (p.Thr4375=)
c.13302G>C (p.Thr4434=)
c.13152G>C (p.Thr4384=)
c.9852G>C (p.Thr3284=)
8g.143916615C>TCA4923886PLECc.13338G>A (p.Thr4446=)
c.13257G>A (p.Thr4419=)
c.12924G>A (p.Thr4308=)
c.13137G>A (p.Thr4379=)
c.13206G>A (p.Thr4402=)
c.9906G>A (p.Thr3302=)
c.13617G>A (p.Thr4539=)
c.13140G>A (p.Thr4380=)
c.13164G>A (p.Thr4388=)
c.13218G>A (p.Thr4406=)
c.13110G>A (p.Thr4370=)
c.13287G>A (p.Thr4429=)
c.13275G>A (p.Thr4425=)
c.13632G>A (p.Thr4544=)
c.13233G>A (p.Thr4411=)
c.13221G>A (p.Thr4407=)
c.13179G>A (p.Thr4393=)
c.13155G>A (p.Thr4385=)
c.13125G>A (p.Thr4375=)
c.13302G>A (p.Thr4434=)
c.13152G>A (p.Thr4384=)
c.9852G>A (p.Thr3284=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916616G>ACA154425PLECc.13337C>T (p.Thr4446Met)
c.13256C>T (p.Thr4419Met)
c.12923C>T (p.Thr4308Met)
c.13136C>T (p.Thr4379Met)
c.13205C>T (p.Thr4402Met)
c.9905C>T (p.Thr3302Met)
c.13616C>T (p.Thr4539Met)
c.13139C>T (p.Thr4380Met)
c.13163C>T (p.Thr4388Met)
c.13217C>T (p.Thr4406Met)
c.13109C>T (p.Thr4370Met)
c.13286C>T (p.Thr4429Met)
c.13274C>T (p.Thr4425Met)
c.13631C>T (p.Thr4544Met)
c.13232C>T (p.Thr4411Met)
c.13220C>T (p.Thr4407Met)
c.13178C>T (p.Thr4393Met)
c.13154C>T (p.Thr4385Met)
c.13124C>T (p.Thr4375Met)
c.13301C>T (p.Thr4434Met)
c.13151C>T (p.Thr4384Met)
c.9851C>T (p.Thr3284Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916616G>CCA187606731PLECc.13337C>G (p.Thr4446Arg)
c.13256C>G (p.Thr4419Arg)
c.12923C>G (p.Thr4308Arg)
c.13136C>G (p.Thr4379Arg)
c.13205C>G (p.Thr4402Arg)
c.9905C>G (p.Thr3302Arg)
c.13616C>G (p.Thr4539Arg)
c.13139C>G (p.Thr4380Arg)
c.13163C>G (p.Thr4388Arg)
c.13217C>G (p.Thr4406Arg)
c.13109C>G (p.Thr4370Arg)
c.13286C>G (p.Thr4429Arg)
c.13274C>G (p.Thr4425Arg)
c.13631C>G (p.Thr4544Arg)
c.13232C>G (p.Thr4411Arg)
c.13220C>G (p.Thr4407Arg)
c.13178C>G (p.Thr4393Arg)
c.13154C>G (p.Thr4385Arg)
c.13124C>G (p.Thr4375Arg)
c.13301C>G (p.Thr4434Arg)
c.13151C>G (p.Thr4384Arg)
c.9851C>G (p.Thr3284Arg)
 dbSNP
8g.143916616G=CA1826037489PLECc.13337C= (p.Thr4446=)
c.13256C= (p.Thr4419=)
c.12923C= (p.Thr4308=)
c.13136C= (p.Thr4379=)
c.13205C= (p.Thr4402=)
c.9905C= (p.Thr3302=)
c.13616C= (p.Thr4539=)
c.13139C= (p.Thr4380=)
c.13163C= (p.Thr4388=)
c.13217C= (p.Thr4406=)
c.13109C= (p.Thr4370=)
c.13286C= (p.Thr4429=)
c.13274C= (p.Thr4425=)
c.13631C= (p.Thr4544=)
c.13232C= (p.Thr4411=)
c.13220C= (p.Thr4407=)
c.13178C= (p.Thr4393=)
c.13154C= (p.Thr4385=)
c.13124C= (p.Thr4375=)
c.13301C= (p.Thr4434=)
c.13151C= (p.Thr4384=)
c.9851C= (p.Thr3284=)
8g.143916616G>TCA372475988PLECc.13337C>A (p.Thr4446Lys)
c.13256C>A (p.Thr4419Lys)
c.12923C>A (p.Thr4308Lys)
c.13136C>A (p.Thr4379Lys)
c.13205C>A (p.Thr4402Lys)
c.9905C>A (p.Thr3302Lys)
c.13616C>A (p.Thr4539Lys)
c.13139C>A (p.Thr4380Lys)
c.13163C>A (p.Thr4388Lys)
c.13217C>A (p.Thr4406Lys)
c.13109C>A (p.Thr4370Lys)
c.13286C>A (p.Thr4429Lys)
c.13274C>A (p.Thr4425Lys)
c.13631C>A (p.Thr4544Lys)
c.13232C>A (p.Thr4411Lys)
c.13220C>A (p.Thr4407Lys)
c.13178C>A (p.Thr4393Lys)
c.13154C>A (p.Thr4385Lys)
c.13124C>A (p.Thr4375Lys)
c.13301C>A (p.Thr4434Lys)
c.13151C>A (p.Thr4384Lys)
c.9851C>A (p.Thr3284Lys)
8g.143916617T>ACA372475990PLECc.13336A>T (p.Thr4446Ser)
c.13255A>T (p.Thr4419Ser)
c.12922A>T (p.Thr4308Ser)
c.13135A>T (p.Thr4379Ser)
c.13204A>T (p.Thr4402Ser)
c.9904A>T (p.Thr3302Ser)
c.13615A>T (p.Thr4539Ser)
c.13138A>T (p.Thr4380Ser)
c.13162A>T (p.Thr4388Ser)
c.13216A>T (p.Thr4406Ser)
c.13108A>T (p.Thr4370Ser)
c.13285A>T (p.Thr4429Ser)
c.13273A>T (p.Thr4425Ser)
c.13630A>T (p.Thr4544Ser)
c.13231A>T (p.Thr4411Ser)
c.13219A>T (p.Thr4407Ser)
c.13177A>T (p.Thr4393Ser)
c.13153A>T (p.Thr4385Ser)
c.13123A>T (p.Thr4375Ser)
c.13300A>T (p.Thr4434Ser)
c.13150A>T (p.Thr4384Ser)
c.9850A>T (p.Thr3284Ser)
8g.143916617T>CCA372475992PLECc.13336A>G (p.Thr4446Ala)
c.13255A>G (p.Thr4419Ala)
c.12922A>G (p.Thr4308Ala)
c.13135A>G (p.Thr4379Ala)
c.13204A>G (p.Thr4402Ala)
c.9904A>G (p.Thr3302Ala)
c.13615A>G (p.Thr4539Ala)
c.13138A>G (p.Thr4380Ala)
c.13162A>G (p.Thr4388Ala)
c.13216A>G (p.Thr4406Ala)
c.13108A>G (p.Thr4370Ala)
c.13285A>G (p.Thr4429Ala)
c.13273A>G (p.Thr4425Ala)
c.13630A>G (p.Thr4544Ala)
c.13231A>G (p.Thr4411Ala)
c.13219A>G (p.Thr4407Ala)
c.13177A>G (p.Thr4393Ala)
c.13153A>G (p.Thr4385Ala)
c.13123A>G (p.Thr4375Ala)
c.13300A>G (p.Thr4434Ala)
c.13150A>G (p.Thr4384Ala)
c.9850A>G (p.Thr3284Ala)
8g.143916617T>GCA372475994PLECc.13336A>C (p.Thr4446Pro)
c.13255A>C (p.Thr4419Pro)
c.12922A>C (p.Thr4308Pro)
c.13135A>C (p.Thr4379Pro)
c.13204A>C (p.Thr4402Pro)
c.9904A>C (p.Thr3302Pro)
c.13615A>C (p.Thr4539Pro)
c.13138A>C (p.Thr4380Pro)
c.13162A>C (p.Thr4388Pro)
c.13216A>C (p.Thr4406Pro)
c.13108A>C (p.Thr4370Pro)
c.13285A>C (p.Thr4429Pro)
c.13273A>C (p.Thr4425Pro)
c.13630A>C (p.Thr4544Pro)
c.13231A>C (p.Thr4411Pro)
c.13219A>C (p.Thr4407Pro)
c.13177A>C (p.Thr4393Pro)
c.13153A>C (p.Thr4385Pro)
c.13123A>C (p.Thr4375Pro)
c.13300A>C (p.Thr4434Pro)
c.13150A>C (p.Thr4384Pro)
c.9850A>C (p.Thr3284Pro)
8g.143916618G>ACA463525848PLECc.13335C>T (p.Asp4445=)
c.13254C>T (p.Asp4418=)
c.12921C>T (p.Asp4307=)
c.13134C>T (p.Asp4378=)
c.13203C>T (p.Asp4401=)
c.9903C>T (p.Asp3301=)
c.13614C>T (p.Asp4538=)
c.13137C>T (p.Asp4379=)
c.13161C>T (p.Asp4387=)
c.13215C>T (p.Asp4405=)
c.13107C>T (p.Asp4369=)
c.13284C>T (p.Asp4428=)
c.13272C>T (p.Asp4424=)
c.13629C>T (p.Asp4543=)
c.13230C>T (p.Asp4410=)
c.13218C>T (p.Asp4406=)
c.13176C>T (p.Asp4392=)
c.13152C>T (p.Asp4384=)
c.13122C>T (p.Asp4374=)
c.13299C>T (p.Asp4433=)
c.13149C>T (p.Asp4383=)
c.9849C>T (p.Asp3283=)
8g.143916618G>CCA372475997PLECc.13335C>G (p.Asp4445Glu)
c.13254C>G (p.Asp4418Glu)
c.12921C>G (p.Asp4307Glu)
c.13134C>G (p.Asp4378Glu)
c.13203C>G (p.Asp4401Glu)
c.9903C>G (p.Asp3301Glu)
c.13614C>G (p.Asp4538Glu)
c.13137C>G (p.Asp4379Glu)
c.13161C>G (p.Asp4387Glu)
c.13215C>G (p.Asp4405Glu)
c.13107C>G (p.Asp4369Glu)
c.13284C>G (p.Asp4428Glu)
c.13272C>G (p.Asp4424Glu)
c.13629C>G (p.Asp4543Glu)
c.13230C>G (p.Asp4410Glu)
c.13218C>G (p.Asp4406Glu)
c.13176C>G (p.Asp4392Glu)
c.13152C>G (p.Asp4384Glu)
c.13122C>G (p.Asp4374Glu)
c.13299C>G (p.Asp4433Glu)
c.13149C>G (p.Asp4383Glu)
c.9849C>G (p.Asp3283Glu)
8g.143916618G>TCA372475995PLECc.13335C>A (p.Asp4445Glu)
c.13254C>A (p.Asp4418Glu)
c.12921C>A (p.Asp4307Glu)
c.13134C>A (p.Asp4378Glu)
c.13203C>A (p.Asp4401Glu)
c.9903C>A (p.Asp3301Glu)
c.13614C>A (p.Asp4538Glu)
c.13137C>A (p.Asp4379Glu)
c.13161C>A (p.Asp4387Glu)
c.13215C>A (p.Asp4405Glu)
c.13107C>A (p.Asp4369Glu)
c.13284C>A (p.Asp4428Glu)
c.13272C>A (p.Asp4424Glu)
c.13629C>A (p.Asp4543Glu)
c.13230C>A (p.Asp4410Glu)
c.13218C>A (p.Asp4406Glu)
c.13176C>A (p.Asp4392Glu)
c.13152C>A (p.Asp4384Glu)
c.13122C>A (p.Asp4374Glu)
c.13299C>A (p.Asp4433Glu)
c.13149C>A (p.Asp4383Glu)
c.9849C>A (p.Asp3283Glu)
8g.143916619T>ACA372475999PLECc.13334A>T (p.Asp4445Val)
c.13253A>T (p.Asp4418Val)
c.12920A>T (p.Asp4307Val)
c.13133A>T (p.Asp4378Val)
c.13202A>T (p.Asp4401Val)
c.9902A>T (p.Asp3301Val)
c.13613A>T (p.Asp4538Val)
c.13136A>T (p.Asp4379Val)
c.13160A>T (p.Asp4387Val)
c.13214A>T (p.Asp4405Val)
c.13106A>T (p.Asp4369Val)
c.13283A>T (p.Asp4428Val)
c.13271A>T (p.Asp4424Val)
c.13628A>T (p.Asp4543Val)
c.13229A>T (p.Asp4410Val)
c.13217A>T (p.Asp4406Val)
c.13175A>T (p.Asp4392Val)
c.13151A>T (p.Asp4384Val)
c.13121A>T (p.Asp4374Val)
c.13298A>T (p.Asp4433Val)
c.13148A>T (p.Asp4383Val)
c.9848A>T (p.Asp3283Val)
8g.143916619T>CCA372476000PLECc.13334A>G (p.Asp4445Gly)
c.13253A>G (p.Asp4418Gly)
c.12920A>G (p.Asp4307Gly)
c.13133A>G (p.Asp4378Gly)
c.13202A>G (p.Asp4401Gly)
c.9902A>G (p.Asp3301Gly)
c.13613A>G (p.Asp4538Gly)
c.13136A>G (p.Asp4379Gly)
c.13160A>G (p.Asp4387Gly)
c.13214A>G (p.Asp4405Gly)
c.13106A>G (p.Asp4369Gly)
c.13283A>G (p.Asp4428Gly)
c.13271A>G (p.Asp4424Gly)
c.13628A>G (p.Asp4543Gly)
c.13229A>G (p.Asp4410Gly)
c.13217A>G (p.Asp4406Gly)
c.13175A>G (p.Asp4392Gly)
c.13151A>G (p.Asp4384Gly)
c.13121A>G (p.Asp4374Gly)
c.13298A>G (p.Asp4433Gly)
c.13148A>G (p.Asp4383Gly)
c.9848A>G (p.Asp3283Gly)
8g.143916619T>GCA372476002PLECc.13334A>C (p.Asp4445Ala)
c.13253A>C (p.Asp4418Ala)
c.12920A>C (p.Asp4307Ala)
c.13133A>C (p.Asp4378Ala)
c.13202A>C (p.Asp4401Ala)
c.9902A>C (p.Asp3301Ala)
c.13613A>C (p.Asp4538Ala)
c.13136A>C (p.Asp4379Ala)
c.13160A>C (p.Asp4387Ala)
c.13214A>C (p.Asp4405Ala)
c.13106A>C (p.Asp4369Ala)
c.13283A>C (p.Asp4428Ala)
c.13271A>C (p.Asp4424Ala)
c.13628A>C (p.Asp4543Ala)
c.13229A>C (p.Asp4410Ala)
c.13217A>C (p.Asp4406Ala)
c.13175A>C (p.Asp4392Ala)
c.13151A>C (p.Asp4384Ala)
c.13121A>C (p.Asp4374Ala)
c.13298A>C (p.Asp4433Ala)
c.13148A>C (p.Asp4383Ala)
c.9848A>C (p.Asp3283Ala)
8g.143916620C>ACA4923888PLECc.13333G>T (p.Asp4445Tyr)
c.13252G>T (p.Asp4418Tyr)
c.12919G>T (p.Asp4307Tyr)
c.13132G>T (p.Asp4378Tyr)
c.13201G>T (p.Asp4401Tyr)
c.9901G>T (p.Asp3301Tyr)
c.13612G>T (p.Asp4538Tyr)
c.13135G>T (p.Asp4379Tyr)
c.13159G>T (p.Asp4387Tyr)
c.13213G>T (p.Asp4405Tyr)
c.13105G>T (p.Asp4369Tyr)
c.13282G>T (p.Asp4428Tyr)
c.13270G>T (p.Asp4424Tyr)
c.13627G>T (p.Asp4543Tyr)
c.13228G>T (p.Asp4410Tyr)
c.13216G>T (p.Asp4406Tyr)
c.13174G>T (p.Asp4392Tyr)
c.13150G>T (p.Asp4384Tyr)
c.13120G>T (p.Asp4374Tyr)
c.13297G>T (p.Asp4433Tyr)
c.13147G>T (p.Asp4383Tyr)
c.9847G>T (p.Asp3283Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916620C=CA1826037493PLECc.13333G= (p.Asp4445=)
c.13252G= (p.Asp4418=)
c.12919G= (p.Asp4307=)
c.13132G= (p.Asp4378=)
c.13201G= (p.Asp4401=)
c.9901G= (p.Asp3301=)
c.13612G= (p.Asp4538=)
c.13135G= (p.Asp4379=)
c.13159G= (p.Asp4387=)
c.13213G= (p.Asp4405=)
c.13105G= (p.Asp4369=)
c.13282G= (p.Asp4428=)
c.13270G= (p.Asp4424=)
c.13627G= (p.Asp4543=)
c.13228G= (p.Asp4410=)
c.13216G= (p.Asp4406=)
c.13174G= (p.Asp4392=)
c.13150G= (p.Asp4384=)
c.13120G= (p.Asp4374=)
c.13297G= (p.Asp4433=)
c.13147G= (p.Asp4383=)
c.9847G= (p.Asp3283=)
8g.143916620C>GCA372476005PLECc.13333G>C (p.Asp4445His)
c.13252G>C (p.Asp4418His)
c.12919G>C (p.Asp4307His)
c.13132G>C (p.Asp4378His)
c.13201G>C (p.Asp4401His)
c.9901G>C (p.Asp3301His)
c.13612G>C (p.Asp4538His)
c.13135G>C (p.Asp4379His)
c.13159G>C (p.Asp4387His)
c.13213G>C (p.Asp4405His)
c.13105G>C (p.Asp4369His)
c.13282G>C (p.Asp4428His)
c.13270G>C (p.Asp4424His)
c.13627G>C (p.Asp4543His)
c.13228G>C (p.Asp4410His)
c.13216G>C (p.Asp4406His)
c.13174G>C (p.Asp4392His)
c.13150G>C (p.Asp4384His)
c.13120G>C (p.Asp4374His)
c.13297G>C (p.Asp4433His)
c.13147G>C (p.Asp4383His)
c.9847G>C (p.Asp3283His)
8g.143916620C>TCA4923887PLECc.13333G>A (p.Asp4445Asn)
c.13252G>A (p.Asp4418Asn)
c.12919G>A (p.Asp4307Asn)
c.13132G>A (p.Asp4378Asn)
c.13201G>A (p.Asp4401Asn)
c.9901G>A (p.Asp3301Asn)
c.13612G>A (p.Asp4538Asn)
c.13135G>A (p.Asp4379Asn)
c.13159G>A (p.Asp4387Asn)
c.13213G>A (p.Asp4405Asn)
c.13105G>A (p.Asp4369Asn)
c.13282G>A (p.Asp4428Asn)
c.13270G>A (p.Asp4424Asn)
c.13627G>A (p.Asp4543Asn)
c.13228G>A (p.Asp4410Asn)
c.13216G>A (p.Asp4406Asn)
c.13174G>A (p.Asp4392Asn)
c.13150G>A (p.Asp4384Asn)
c.13120G>A (p.Asp4374Asn)
c.13297G>A (p.Asp4433Asn)
c.13147G>A (p.Asp4383Asn)
c.9847G>A (p.Asp3283Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916621G>ACA4923889PLECc.13332C>T (p.Pro4444=)
c.13251C>T (p.Pro4417=)
c.12918C>T (p.Pro4306=)
c.13131C>T (p.Pro4377=)
c.13200C>T (p.Pro4400=)
c.9900C>T (p.Pro3300=)
c.13611C>T (p.Pro4537=)
c.13134C>T (p.Pro4378=)
c.13158C>T (p.Pro4386=)
c.13212C>T (p.Pro4404=)
c.13104C>T (p.Pro4368=)
c.13281C>T (p.Pro4427=)
c.13269C>T (p.Pro4423=)
c.13626C>T (p.Pro4542=)
c.13227C>T (p.Pro4409=)
c.13215C>T (p.Pro4405=)
c.13173C>T (p.Pro4391=)
c.13149C>T (p.Pro4383=)
c.13119C>T (p.Pro4373=)
c.13296C>T (p.Pro4432=)
c.13146C>T (p.Pro4382=)
c.9846C>T (p.Pro3282=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916621G>CCA463525849PLECc.13332C>G (p.Pro4444=)
c.13251C>G (p.Pro4417=)
c.12918C>G (p.Pro4306=)
c.13131C>G (p.Pro4377=)
c.13200C>G (p.Pro4400=)
c.9900C>G (p.Pro3300=)
c.13611C>G (p.Pro4537=)
c.13134C>G (p.Pro4378=)
c.13158C>G (p.Pro4386=)
c.13212C>G (p.Pro4404=)
c.13104C>G (p.Pro4368=)
c.13281C>G (p.Pro4427=)
c.13269C>G (p.Pro4423=)
c.13626C>G (p.Pro4542=)
c.13227C>G (p.Pro4409=)
c.13215C>G (p.Pro4405=)
c.13173C>G (p.Pro4391=)
c.13149C>G (p.Pro4383=)
c.13119C>G (p.Pro4373=)
c.13296C>G (p.Pro4432=)
c.13146C>G (p.Pro4382=)
c.9846C>G (p.Pro3282=)
8g.143916621G=CA1826037496PLECc.13332C= (p.Pro4444=)
c.13251C= (p.Pro4417=)
c.12918C= (p.Pro4306=)
c.13131C= (p.Pro4377=)
c.13200C= (p.Pro4400=)
c.9900C= (p.Pro3300=)
c.13611C= (p.Pro4537=)
c.13134C= (p.Pro4378=)
c.13158C= (p.Pro4386=)
c.13212C= (p.Pro4404=)
c.13104C= (p.Pro4368=)
c.13281C= (p.Pro4427=)
c.13269C= (p.Pro4423=)
c.13626C= (p.Pro4542=)
c.13227C= (p.Pro4409=)
c.13215C= (p.Pro4405=)
c.13173C= (p.Pro4391=)
c.13149C= (p.Pro4383=)
c.13119C= (p.Pro4373=)
c.13296C= (p.Pro4432=)
c.13146C= (p.Pro4382=)
c.9846C= (p.Pro3282=)
8g.143916621G>TCA463525850PLECc.13332C>A (p.Pro4444=)
c.13251C>A (p.Pro4417=)
c.12918C>A (p.Pro4306=)
c.13131C>A (p.Pro4377=)
c.13200C>A (p.Pro4400=)
c.9900C>A (p.Pro3300=)
c.13611C>A (p.Pro4537=)
c.13134C>A (p.Pro4378=)
c.13158C>A (p.Pro4386=)
c.13212C>A (p.Pro4404=)
c.13104C>A (p.Pro4368=)
c.13281C>A (p.Pro4427=)
c.13269C>A (p.Pro4423=)
c.13626C>A (p.Pro4542=)
c.13227C>A (p.Pro4409=)
c.13215C>A (p.Pro4405=)
c.13173C>A (p.Pro4391=)
c.13149C>A (p.Pro4383=)
c.13119C>A (p.Pro4373=)
c.13296C>A (p.Pro4432=)
c.13146C>A (p.Pro4382=)
c.9846C>A (p.Pro3282=)
 ClinVar dbSNP gnomAD v4
8g.143916622G>ACA372476008PLECc.13331C>T (p.Pro4444Leu)
c.13250C>T (p.Pro4417Leu)
c.12917C>T (p.Pro4306Leu)
c.13130C>T (p.Pro4377Leu)
c.13199C>T (p.Pro4400Leu)
c.9899C>T (p.Pro3300Leu)
c.13610C>T (p.Pro4537Leu)
c.13133C>T (p.Pro4378Leu)
c.13157C>T (p.Pro4386Leu)
c.13211C>T (p.Pro4404Leu)
c.13103C>T (p.Pro4368Leu)
c.13280C>T (p.Pro4427Leu)
c.13268C>T (p.Pro4423Leu)
c.13625C>T (p.Pro4542Leu)
c.13226C>T (p.Pro4409Leu)
c.13214C>T (p.Pro4405Leu)
c.13172C>T (p.Pro4391Leu)
c.13148C>T (p.Pro4383Leu)
c.13118C>T (p.Pro4373Leu)
c.13295C>T (p.Pro4432Leu)
c.13145C>T (p.Pro4382Leu)
c.9845C>T (p.Pro3282Leu)
8g.143916622G>CCA372476010PLECc.13331C>G (p.Pro4444Arg)
c.13250C>G (p.Pro4417Arg)
c.12917C>G (p.Pro4306Arg)
c.13130C>G (p.Pro4377Arg)
c.13199C>G (p.Pro4400Arg)
c.9899C>G (p.Pro3300Arg)
c.13610C>G (p.Pro4537Arg)
c.13133C>G (p.Pro4378Arg)
c.13157C>G (p.Pro4386Arg)
c.13211C>G (p.Pro4404Arg)
c.13103C>G (p.Pro4368Arg)
c.13280C>G (p.Pro4427Arg)
c.13268C>G (p.Pro4423Arg)
c.13625C>G (p.Pro4542Arg)
c.13226C>G (p.Pro4409Arg)
c.13214C>G (p.Pro4405Arg)
c.13172C>G (p.Pro4391Arg)
c.13148C>G (p.Pro4383Arg)
c.13118C>G (p.Pro4373Arg)
c.13295C>G (p.Pro4432Arg)
c.13145C>G (p.Pro4382Arg)
c.9845C>G (p.Pro3282Arg)
8g.143916622G>TCA372476011PLECc.13331C>A (p.Pro4444His)
c.13250C>A (p.Pro4417His)
c.12917C>A (p.Pro4306His)
c.13130C>A (p.Pro4377His)
c.13199C>A (p.Pro4400His)
c.9899C>A (p.Pro3300His)
c.13610C>A (p.Pro4537His)
c.13133C>A (p.Pro4378His)
c.13157C>A (p.Pro4386His)
c.13211C>A (p.Pro4404His)
c.13103C>A (p.Pro4368His)
c.13280C>A (p.Pro4427His)
c.13268C>A (p.Pro4423His)
c.13625C>A (p.Pro4542His)
c.13226C>A (p.Pro4409His)
c.13214C>A (p.Pro4405His)
c.13172C>A (p.Pro4391His)
c.13148C>A (p.Pro4383His)
c.13118C>A (p.Pro4373His)
c.13295C>A (p.Pro4432His)
c.13145C>A (p.Pro4382His)
c.9845C>A (p.Pro3282His)
8g.143916623G>ACA372476013PLECc.13330C>T (p.Pro4444Ser)
c.13249C>T (p.Pro4417Ser)
c.12916C>T (p.Pro4306Ser)
c.13129C>T (p.Pro4377Ser)
c.13198C>T (p.Pro4400Ser)
c.9898C>T (p.Pro3300Ser)
c.13609C>T (p.Pro4537Ser)
c.13132C>T (p.Pro4378Ser)
c.13156C>T (p.Pro4386Ser)
c.13210C>T (p.Pro4404Ser)
c.13102C>T (p.Pro4368Ser)
c.13279C>T (p.Pro4427Ser)
c.13267C>T (p.Pro4423Ser)
c.13624C>T (p.Pro4542Ser)
c.13225C>T (p.Pro4409Ser)
c.13213C>T (p.Pro4405Ser)
c.13171C>T (p.Pro4391Ser)
c.13147C>T (p.Pro4383Ser)
c.13117C>T (p.Pro4373Ser)
c.13294C>T (p.Pro4432Ser)
c.13144C>T (p.Pro4382Ser)
c.9844C>T (p.Pro3282Ser)
8g.143916623G>CCA372476015PLECc.13330C>G (p.Pro4444Ala)
c.13249C>G (p.Pro4417Ala)
c.12916C>G (p.Pro4306Ala)
c.13129C>G (p.Pro4377Ala)
c.13198C>G (p.Pro4400Ala)
c.9898C>G (p.Pro3300Ala)
c.13609C>G (p.Pro4537Ala)
c.13132C>G (p.Pro4378Ala)
c.13156C>G (p.Pro4386Ala)
c.13210C>G (p.Pro4404Ala)
c.13102C>G (p.Pro4368Ala)
c.13279C>G (p.Pro4427Ala)
c.13267C>G (p.Pro4423Ala)
c.13624C>G (p.Pro4542Ala)
c.13225C>G (p.Pro4409Ala)
c.13213C>G (p.Pro4405Ala)
c.13171C>G (p.Pro4391Ala)
c.13147C>G (p.Pro4383Ala)
c.13117C>G (p.Pro4373Ala)
c.13294C>G (p.Pro4432Ala)
c.13144C>G (p.Pro4382Ala)
c.9844C>G (p.Pro3282Ala)
8g.143916623G>TCA372476017PLECc.13330C>A (p.Pro4444Thr)
c.13249C>A (p.Pro4417Thr)
c.12916C>A (p.Pro4306Thr)
c.13129C>A (p.Pro4377Thr)
c.13198C>A (p.Pro4400Thr)
c.9898C>A (p.Pro3300Thr)
c.13609C>A (p.Pro4537Thr)
c.13132C>A (p.Pro4378Thr)
c.13156C>A (p.Pro4386Thr)
c.13210C>A (p.Pro4404Thr)
c.13102C>A (p.Pro4368Thr)
c.13279C>A (p.Pro4427Thr)
c.13267C>A (p.Pro4423Thr)
c.13624C>A (p.Pro4542Thr)
c.13225C>A (p.Pro4409Thr)
c.13213C>A (p.Pro4405Thr)
c.13171C>A (p.Pro4391Thr)
c.13147C>A (p.Pro4383Thr)
c.13117C>A (p.Pro4373Thr)
c.13294C>A (p.Pro4432Thr)
c.13144C>A (p.Pro4382Thr)
c.9844C>A (p.Pro3282Thr)
8g.143916624C>ACA372476019PLECc.13329G>T (p.Glu4443Asp)
c.13248G>T (p.Glu4416Asp)
c.12915G>T (p.Glu4305Asp)
c.13128G>T (p.Glu4376Asp)
c.13197G>T (p.Glu4399Asp)
c.9897G>T (p.Glu3299Asp)
c.13608G>T (p.Glu4536Asp)
c.13131G>T (p.Glu4377Asp)
c.13155G>T (p.Glu4385Asp)
c.13209G>T (p.Glu4403Asp)
c.13101G>T (p.Glu4367Asp)
c.13278G>T (p.Glu4426Asp)
c.13266G>T (p.Glu4422Asp)
c.13623G>T (p.Glu4541Asp)
c.13224G>T (p.Glu4408Asp)
c.13212G>T (p.Glu4404Asp)
c.13170G>T (p.Glu4390Asp)
c.13146G>T (p.Glu4382Asp)
c.13116G>T (p.Glu4372Asp)
c.13293G>T (p.Glu4431Asp)
c.13143G>T (p.Glu4381Asp)
c.9843G>T (p.Glu3281Asp)
8g.143916624C>GCA372476020PLECc.13329G>C (p.Glu4443Asp)
c.13248G>C (p.Glu4416Asp)
c.12915G>C (p.Glu4305Asp)
c.13128G>C (p.Glu4376Asp)
c.13197G>C (p.Glu4399Asp)
c.9897G>C (p.Glu3299Asp)
c.13608G>C (p.Glu4536Asp)
c.13131G>C (p.Glu4377Asp)
c.13155G>C (p.Glu4385Asp)
c.13209G>C (p.Glu4403Asp)
c.13101G>C (p.Glu4367Asp)
c.13278G>C (p.Glu4426Asp)
c.13266G>C (p.Glu4422Asp)
c.13623G>C (p.Glu4541Asp)
c.13224G>C (p.Glu4408Asp)
c.13212G>C (p.Glu4404Asp)
c.13170G>C (p.Glu4390Asp)
c.13146G>C (p.Glu4382Asp)
c.13116G>C (p.Glu4372Asp)
c.13293G>C (p.Glu4431Asp)
c.13143G>C (p.Glu4381Asp)
c.9843G>C (p.Glu3281Asp)
8g.143916624C>TCA463525853PLECc.13329G>A (p.Glu4443=)
c.13248G>A (p.Glu4416=)
c.12915G>A (p.Glu4305=)
c.13128G>A (p.Glu4376=)
c.13197G>A (p.Glu4399=)
c.9897G>A (p.Glu3299=)
c.13608G>A (p.Glu4536=)
c.13131G>A (p.Glu4377=)
c.13155G>A (p.Glu4385=)
c.13209G>A (p.Glu4403=)
c.13101G>A (p.Glu4367=)
c.13278G>A (p.Glu4426=)
c.13266G>A (p.Glu4422=)
c.13623G>A (p.Glu4541=)
c.13224G>A (p.Glu4408=)
c.13212G>A (p.Glu4404=)
c.13170G>A (p.Glu4390=)
c.13146G>A (p.Glu4382=)
c.13116G>A (p.Glu4372=)
c.13293G>A (p.Glu4431=)
c.13143G>A (p.Glu4381=)
c.9843G>A (p.Glu3281=)
 gnomAD v4
8g.143916625T>ACA372476022PLECc.13328A>T (p.Glu4443Val)
c.13247A>T (p.Glu4416Val)
c.12914A>T (p.Glu4305Val)
c.13127A>T (p.Glu4376Val)
c.13196A>T (p.Glu4399Val)
c.9896A>T (p.Glu3299Val)
c.13607A>T (p.Glu4536Val)
c.13130A>T (p.Glu4377Val)
c.13154A>T (p.Glu4385Val)
c.13208A>T (p.Glu4403Val)
c.13100A>T (p.Glu4367Val)
c.13277A>T (p.Glu4426Val)
c.13265A>T (p.Glu4422Val)
c.13622A>T (p.Glu4541Val)
c.13223A>T (p.Glu4408Val)
c.13211A>T (p.Glu4404Val)
c.13169A>T (p.Glu4390Val)
c.13145A>T (p.Glu4382Val)
c.13115A>T (p.Glu4372Val)
c.13292A>T (p.Glu4431Val)
c.13142A>T (p.Glu4381Val)
c.9842A>T (p.Glu3281Val)
8g.143916625T>CCA372476024PLECc.13328A>G (p.Glu4443Gly)
c.13247A>G (p.Glu4416Gly)
c.12914A>G (p.Glu4305Gly)
c.13127A>G (p.Glu4376Gly)
c.13196A>G (p.Glu4399Gly)
c.9896A>G (p.Glu3299Gly)
c.13607A>G (p.Glu4536Gly)
c.13130A>G (p.Glu4377Gly)
c.13154A>G (p.Glu4385Gly)
c.13208A>G (p.Glu4403Gly)
c.13100A>G (p.Glu4367Gly)
c.13277A>G (p.Glu4426Gly)
c.13265A>G (p.Glu4422Gly)
c.13622A>G (p.Glu4541Gly)
c.13223A>G (p.Glu4408Gly)
c.13211A>G (p.Glu4404Gly)
c.13169A>G (p.Glu4390Gly)
c.13145A>G (p.Glu4382Gly)
c.13115A>G (p.Glu4372Gly)
c.13292A>G (p.Glu4431Gly)
c.13142A>G (p.Glu4381Gly)
c.9842A>G (p.Glu3281Gly)
8g.143916625T>GCA372476025PLECc.13328A>C (p.Glu4443Ala)
c.13247A>C (p.Glu4416Ala)
c.12914A>C (p.Glu4305Ala)
c.13127A>C (p.Glu4376Ala)
c.13196A>C (p.Glu4399Ala)
c.9896A>C (p.Glu3299Ala)
c.13607A>C (p.Glu4536Ala)
c.13130A>C (p.Glu4377Ala)
c.13154A>C (p.Glu4385Ala)
c.13208A>C (p.Glu4403Ala)
c.13100A>C (p.Glu4367Ala)
c.13277A>C (p.Glu4426Ala)
c.13265A>C (p.Glu4422Ala)
c.13622A>C (p.Glu4541Ala)
c.13223A>C (p.Glu4408Ala)
c.13211A>C (p.Glu4404Ala)
c.13169A>C (p.Glu4390Ala)
c.13145A>C (p.Glu4382Ala)
c.13115A>C (p.Glu4372Ala)
c.13292A>C (p.Glu4431Ala)
c.13142A>C (p.Glu4381Ala)
c.9842A>C (p.Glu3281Ala)
 dbSNP
8g.143916626C>ACA372476028PLECc.13327G>T (p.Glu4443Ter)
c.13246G>T (p.Glu4416Ter)
c.12913G>T (p.Glu4305Ter)
c.13126G>T (p.Glu4376Ter)
c.13195G>T (p.Glu4399Ter)
c.9895G>T (p.Glu3299Ter)
c.13606G>T (p.Glu4536Ter)
c.13129G>T (p.Glu4377Ter)
c.13153G>T (p.Glu4385Ter)
c.13207G>T (p.Glu4403Ter)
c.13099G>T (p.Glu4367Ter)
c.13276G>T (p.Glu4426Ter)
c.13264G>T (p.Glu4422Ter)
c.13621G>T (p.Glu4541Ter)
c.13222G>T (p.Glu4408Ter)
c.13210G>T (p.Glu4404Ter)
c.13168G>T (p.Glu4390Ter)
c.13144G>T (p.Glu4382Ter)
c.13114G>T (p.Glu4372Ter)
c.13291G>T (p.Glu4431Ter)
c.13141G>T (p.Glu4381Ter)
c.9841G>T (p.Glu3281Ter)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916626C=CA1826037500PLECc.13327G= (p.Glu4443=)
c.13246G= (p.Glu4416=)
c.12913G= (p.Glu4305=)
c.13126G= (p.Glu4376=)
c.13195G= (p.Glu4399=)
c.9895G= (p.Glu3299=)
c.13606G= (p.Glu4536=)
c.13129G= (p.Glu4377=)
c.13153G= (p.Glu4385=)
c.13207G= (p.Glu4403=)
c.13099G= (p.Glu4367=)
c.13276G= (p.Glu4426=)
c.13264G= (p.Glu4422=)
c.13621G= (p.Glu4541=)
c.13222G= (p.Glu4408=)
c.13210G= (p.Glu4404=)
c.13168G= (p.Glu4390=)
c.13144G= (p.Glu4382=)
c.13114G= (p.Glu4372=)
c.13291G= (p.Glu4431=)
c.13141G= (p.Glu4381=)
c.9841G= (p.Glu3281=)
8g.143916626C>GCA372476029PLECc.13327G>C (p.Glu4443Gln)
c.13246G>C (p.Glu4416Gln)
c.12913G>C (p.Glu4305Gln)
c.13126G>C (p.Glu4376Gln)
c.13195G>C (p.Glu4399Gln)
c.9895G>C (p.Glu3299Gln)
c.13606G>C (p.Glu4536Gln)
c.13129G>C (p.Glu4377Gln)
c.13153G>C (p.Glu4385Gln)
c.13207G>C (p.Glu4403Gln)
c.13099G>C (p.Glu4367Gln)
c.13276G>C (p.Glu4426Gln)
c.13264G>C (p.Glu4422Gln)
c.13621G>C (p.Glu4541Gln)
c.13222G>C (p.Glu4408Gln)
c.13210G>C (p.Glu4404Gln)
c.13168G>C (p.Glu4390Gln)
c.13144G>C (p.Glu4382Gln)
c.13114G>C (p.Glu4372Gln)
c.13291G>C (p.Glu4431Gln)
c.13141G>C (p.Glu4381Gln)
c.9841G>C (p.Glu3281Gln)
8g.143916626C>TCA372476031PLECc.13327G>A (p.Glu4443Lys)
c.13246G>A (p.Glu4416Lys)
c.12913G>A (p.Glu4305Lys)
c.13126G>A (p.Glu4376Lys)
c.13195G>A (p.Glu4399Lys)
c.9895G>A (p.Glu3299Lys)
c.13606G>A (p.Glu4536Lys)
c.13129G>A (p.Glu4377Lys)
c.13153G>A (p.Glu4385Lys)
c.13207G>A (p.Glu4403Lys)
c.13099G>A (p.Glu4367Lys)
c.13276G>A (p.Glu4426Lys)
c.13264G>A (p.Glu4422Lys)
c.13621G>A (p.Glu4541Lys)
c.13222G>A (p.Glu4408Lys)
c.13210G>A (p.Glu4404Lys)
c.13168G>A (p.Glu4390Lys)
c.13144G>A (p.Glu4382Lys)
c.13114G>A (p.Glu4372Lys)
c.13291G>A (p.Glu4431Lys)
c.13141G>A (p.Glu4381Lys)
c.9841G>A (p.Glu3281Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143916627G>ACA4923890PLECc.13326C>T (p.Ile4442=)
c.13245C>T (p.Ile4415=)
c.12912C>T (p.Ile4304=)
c.13125C>T (p.Ile4375=)
c.13194C>T (p.Ile4398=)
c.9894C>T (p.Ile3298=)
c.13605C>T (p.Ile4535=)
c.13128C>T (p.Ile4376=)
c.13152C>T (p.Ile4384=)
c.13206C>T (p.Ile4402=)
c.13098C>T (p.Ile4366=)
c.13275C>T (p.Ile4425=)
c.13263C>T (p.Ile4421=)
c.13620C>T (p.Ile4540=)
c.13221C>T (p.Ile4407=)
c.13209C>T (p.Ile4403=)
c.13167C>T (p.Ile4389=)
c.13143C>T (p.Ile4381=)
c.13113C>T (p.Ile4371=)
c.13290C>T (p.Ile4430=)
c.13140C>T (p.Ile4380=)
c.9840C>T (p.Ile3280=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916627G>CCA372476033PLECc.13326C>G (p.Ile4442Met)
c.13245C>G (p.Ile4415Met)
c.12912C>G (p.Ile4304Met)
c.13125C>G (p.Ile4375Met)
c.13194C>G (p.Ile4398Met)
c.9894C>G (p.Ile3298Met)
c.13605C>G (p.Ile4535Met)
c.13128C>G (p.Ile4376Met)
c.13152C>G (p.Ile4384Met)
c.13206C>G (p.Ile4402Met)
c.13098C>G (p.Ile4366Met)
c.13275C>G (p.Ile4425Met)
c.13263C>G (p.Ile4421Met)
c.13620C>G (p.Ile4540Met)
c.13221C>G (p.Ile4407Met)
c.13209C>G (p.Ile4403Met)
c.13167C>G (p.Ile4389Met)
c.13143C>G (p.Ile4381Met)
c.13113C>G (p.Ile4371Met)
c.13290C>G (p.Ile4430Met)
c.13140C>G (p.Ile4380Met)
c.9840C>G (p.Ile3280Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143916627G=CA1826037503PLECc.13326C= (p.Ile4442=)
c.13245C= (p.Ile4415=)
c.12912C= (p.Ile4304=)
c.13125C= (p.Ile4375=)
c.13194C= (p.Ile4398=)
c.9894C= (p.Ile3298=)
c.13605C= (p.Ile4535=)
c.13128C= (p.Ile4376=)
c.13152C= (p.Ile4384=)
c.13206C= (p.Ile4402=)
c.13098C= (p.Ile4366=)
c.13275C= (p.Ile4425=)
c.13263C= (p.Ile4421=)
c.13620C= (p.Ile4540=)
c.13221C= (p.Ile4407=)
c.13209C= (p.Ile4403=)
c.13167C= (p.Ile4389=)
c.13143C= (p.Ile4381=)
c.13113C= (p.Ile4371=)
c.13290C= (p.Ile4430=)
c.13140C= (p.Ile4380=)
c.9840C= (p.Ile3280=)
8g.143916627G>TCA463525857PLECc.13326C>A (p.Ile4442=)
c.13245C>A (p.Ile4415=)
c.12912C>A (p.Ile4304=)
c.13125C>A (p.Ile4375=)
c.13194C>A (p.Ile4398=)
c.9894C>A (p.Ile3298=)
c.13605C>A (p.Ile4535=)
c.13128C>A (p.Ile4376=)
c.13152C>A (p.Ile4384=)
c.13206C>A (p.Ile4402=)
c.13098C>A (p.Ile4366=)
c.13275C>A (p.Ile4425=)
c.13263C>A (p.Ile4421=)
c.13620C>A (p.Ile4540=)
c.13221C>A (p.Ile4407=)
c.13209C>A (p.Ile4403=)
c.13167C>A (p.Ile4389=)
c.13143C>A (p.Ile4381=)
c.13113C>A (p.Ile4371=)
c.13290C>A (p.Ile4430=)
c.13140C>A (p.Ile4380=)
c.9840C>A (p.Ile3280=)
 dbSNP gnomAD v4
8g.143916628A>CCA372476035PLECc.13325T>G (p.Ile4442Ser)
c.13244T>G (p.Ile4415Ser)
c.12911T>G (p.Ile4304Ser)
c.13124T>G (p.Ile4375Ser)
c.13193T>G (p.Ile4398Ser)
c.9893T>G (p.Ile3298Ser)
c.13604T>G (p.Ile4535Ser)
c.13127T>G (p.Ile4376Ser)
c.13151T>G (p.Ile4384Ser)
c.13205T>G (p.Ile4402Ser)
c.13097T>G (p.Ile4366Ser)
c.13274T>G (p.Ile4425Ser)
c.13262T>G (p.Ile4421Ser)
c.13619T>G (p.Ile4540Ser)
c.13220T>G (p.Ile4407Ser)
c.13208T>G (p.Ile4403Ser)
c.13166T>G (p.Ile4389Ser)
c.13142T>G (p.Ile4381Ser)
c.13112T>G (p.Ile4371Ser)
c.13289T>G (p.Ile4430Ser)
c.13139T>G (p.Ile4380Ser)
c.9839T>G (p.Ile3280Ser)
8g.143916628A>GCA372476037PLECc.13325T>C (p.Ile4442Thr)
c.13244T>C (p.Ile4415Thr)
c.12911T>C (p.Ile4304Thr)
c.13124T>C (p.Ile4375Thr)
c.13193T>C (p.Ile4398Thr)
c.9893T>C (p.Ile3298Thr)
c.13604T>C (p.Ile4535Thr)
c.13127T>C (p.Ile4376Thr)
c.13151T>C (p.Ile4384Thr)
c.13205T>C (p.Ile4402Thr)
c.13097T>C (p.Ile4366Thr)
c.13274T>C (p.Ile4425Thr)
c.13262T>C (p.Ile4421Thr)
c.13619T>C (p.Ile4540Thr)
c.13220T>C (p.Ile4407Thr)
c.13208T>C (p.Ile4403Thr)
c.13166T>C (p.Ile4389Thr)
c.13142T>C (p.Ile4381Thr)
c.13112T>C (p.Ile4371Thr)
c.13289T>C (p.Ile4430Thr)
c.13139T>C (p.Ile4380Thr)
c.9839T>C (p.Ile3280Thr)
8g.143916628A>TCA372476039PLECc.13325T>A (p.Ile4442Asn)
c.13244T>A (p.Ile4415Asn)
c.12911T>A (p.Ile4304Asn)
c.13124T>A (p.Ile4375Asn)
c.13193T>A (p.Ile4398Asn)
c.9893T>A (p.Ile3298Asn)
c.13604T>A (p.Ile4535Asn)
c.13127T>A (p.Ile4376Asn)
c.13151T>A (p.Ile4384Asn)
c.13205T>A (p.Ile4402Asn)
c.13097T>A (p.Ile4366Asn)
c.13274T>A (p.Ile4425Asn)
c.13262T>A (p.Ile4421Asn)
c.13619T>A (p.Ile4540Asn)
c.13220T>A (p.Ile4407Asn)
c.13208T>A (p.Ile4403Asn)
c.13166T>A (p.Ile4389Asn)
c.13142T>A (p.Ile4381Asn)
c.13112T>A (p.Ile4371Asn)
c.13289T>A (p.Ile4430Asn)
c.13139T>A (p.Ile4380Asn)
c.9839T>A (p.Ile3280Asn)
8g.143916629T>ACA372476046PLECc.13324A>T (p.Ile4442Phe)
c.13243A>T (p.Ile4415Phe)
c.12910A>T (p.Ile4304Phe)
c.13123A>T (p.Ile4375Phe)
c.13192A>T (p.Ile4398Phe)
c.9892A>T (p.Ile3298Phe)
c.13603A>T (p.Ile4535Phe)
c.13126A>T (p.Ile4376Phe)
c.13150A>T (p.Ile4384Phe)
c.13204A>T (p.Ile4402Phe)
c.13096A>T (p.Ile4366Phe)
c.13273A>T (p.Ile4425Phe)
c.13261A>T (p.Ile4421Phe)
c.13618A>T (p.Ile4540Phe)
c.13219A>T (p.Ile4407Phe)
c.13207A>T (p.Ile4403Phe)
c.13165A>T (p.Ile4389Phe)
c.13141A>T (p.Ile4381Phe)
c.13111A>T (p.Ile4371Phe)
c.13288A>T (p.Ile4430Phe)
c.13138A>T (p.Ile4380Phe)
c.9838A>T (p.Ile3280Phe)
8g.143916629T>CCA372476043PLECc.13324A>G (p.Ile4442Val)
c.13243A>G (p.Ile4415Val)
c.12910A>G (p.Ile4304Val)
c.13123A>G (p.Ile4375Val)
c.13192A>G (p.Ile4398Val)
c.9892A>G (p.Ile3298Val)
c.13603A>G (p.Ile4535Val)
c.13126A>G (p.Ile4376Val)
c.13150A>G (p.Ile4384Val)
c.13204A>G (p.Ile4402Val)
c.13096A>G (p.Ile4366Val)
c.13273A>G (p.Ile4425Val)
c.13261A>G (p.Ile4421Val)
c.13618A>G (p.Ile4540Val)
c.13219A>G (p.Ile4407Val)
c.13207A>G (p.Ile4403Val)
c.13165A>G (p.Ile4389Val)
c.13141A>G (p.Ile4381Val)
c.13111A>G (p.Ile4371Val)
c.13288A>G (p.Ile4430Val)
c.13138A>G (p.Ile4380Val)
c.9838A>G (p.Ile3280Val)
 gnomAD v4
8g.143916629T>GCA372476041PLECc.13324A>C (p.Ile4442Leu)
c.13243A>C (p.Ile4415Leu)
c.12910A>C (p.Ile4304Leu)
c.13123A>C (p.Ile4375Leu)
c.13192A>C (p.Ile4398Leu)
c.9892A>C (p.Ile3298Leu)
c.13603A>C (p.Ile4535Leu)
c.13126A>C (p.Ile4376Leu)
c.13150A>C (p.Ile4384Leu)
c.13204A>C (p.Ile4402Leu)
c.13096A>C (p.Ile4366Leu)
c.13273A>C (p.Ile4425Leu)
c.13261A>C (p.Ile4421Leu)
c.13618A>C (p.Ile4540Leu)
c.13219A>C (p.Ile4407Leu)
c.13207A>C (p.Ile4403Leu)
c.13165A>C (p.Ile4389Leu)
c.13141A>C (p.Ile4381Leu)
c.13111A>C (p.Ile4371Leu)
c.13288A>C (p.Ile4430Leu)
c.13138A>C (p.Ile4380Leu)
c.9838A>C (p.Ile3280Leu)
8g.143916630C>ACA372476049PLECc.13323G>T (p.Leu4441Phe)
c.13242G>T (p.Leu4414Phe)
c.12909G>T (p.Leu4303Phe)
c.13122G>T (p.Leu4374Phe)
c.13191G>T (p.Leu4397Phe)
c.9891G>T (p.Leu3297Phe)
c.13602G>T (p.Leu4534Phe)
c.13125G>T (p.Leu4375Phe)
c.13149G>T (p.Leu4383Phe)
c.13203G>T (p.Leu4401Phe)
c.13095G>T (p.Leu4365Phe)
c.13272G>T (p.Leu4424Phe)
c.13260G>T (p.Leu4420Phe)
c.13617G>T (p.Leu4539Phe)
c.13218G>T (p.Leu4406Phe)
c.13206G>T (p.Leu4402Phe)
c.13164G>T (p.Leu4388Phe)
c.13140G>T (p.Leu4380Phe)
c.13110G>T (p.Leu4370Phe)
c.13287G>T (p.Leu4429Phe)
c.13137G>T (p.Leu4379Phe)
c.9837G>T (p.Leu3279Phe)
8g.143916630C=CA1826037505PLECc.13323G= (p.Leu4441=)
c.13242G= (p.Leu4414=)
c.12909G= (p.Leu4303=)
c.13122G= (p.Leu4374=)
c.13191G= (p.Leu4397=)
c.9891G= (p.Leu3297=)
c.13602G= (p.Leu4534=)
c.13125G= (p.Leu4375=)
c.13149G= (p.Leu4383=)
c.13203G= (p.Leu4401=)
c.13095G= (p.Leu4365=)
c.13272G= (p.Leu4424=)
c.13260G= (p.Leu4420=)
c.13617G= (p.Leu4539=)
c.13218G= (p.Leu4406=)
c.13206G= (p.Leu4402=)
c.13164G= (p.Leu4388=)
c.13140G= (p.Leu4380=)
c.13110G= (p.Leu4370=)
c.13287G= (p.Leu4429=)
c.13137G= (p.Leu4379=)
c.9837G= (p.Leu3279=)
8g.143916630C>GCA372476056PLECc.13323G>C (p.Leu4441Phe)
c.13242G>C (p.Leu4414Phe)
c.12909G>C (p.Leu4303Phe)
c.13122G>C (p.Leu4374Phe)
c.13191G>C (p.Leu4397Phe)
c.9891G>C (p.Leu3297Phe)
c.13602G>C (p.Leu4534Phe)
c.13125G>C (p.Leu4375Phe)
c.13149G>C (p.Leu4383Phe)
c.13203G>C (p.Leu4401Phe)
c.13095G>C (p.Leu4365Phe)
c.13272G>C (p.Leu4424Phe)
c.13260G>C (p.Leu4420Phe)
c.13617G>C (p.Leu4539Phe)
c.13218G>C (p.Leu4406Phe)
c.13206G>C (p.Leu4402Phe)
c.13164G>C (p.Leu4388Phe)
c.13140G>C (p.Leu4380Phe)
c.13110G>C (p.Leu4370Phe)
c.13287G>C (p.Leu4429Phe)
c.13137G>C (p.Leu4379Phe)
c.9837G>C (p.Leu3279Phe)
8g.143916630C>TCA463525860PLECc.13323G>A (p.Leu4441=)
c.13242G>A (p.Leu4414=)
c.12909G>A (p.Leu4303=)
c.13122G>A (p.Leu4374=)
c.13191G>A (p.Leu4397=)
c.9891G>A (p.Leu3297=)
c.13602G>A (p.Leu4534=)
c.13125G>A (p.Leu4375=)
c.13149G>A (p.Leu4383=)
c.13203G>A (p.Leu4401=)
c.13095G>A (p.Leu4365=)
c.13272G>A (p.Leu4424=)
c.13260G>A (p.Leu4420=)
c.13617G>A (p.Leu4539=)
c.13218G>A (p.Leu4406=)
c.13206G>A (p.Leu4402=)
c.13164G>A (p.Leu4388=)
c.13140G>A (p.Leu4380=)
c.13110G>A (p.Leu4370=)
c.13287G>A (p.Leu4429=)
c.13137G>A (p.Leu4379=)
c.9837G>A (p.Leu3279=)
 dbSNP gnomAD v4

Number of alleles fetched