Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.143916473G>ACA463526553PLECc.13480C>T (p.Leu4494=)
c.13399C>T (p.Leu4467=)
c.13066C>T (p.Leu4356=)
c.13279C>T (p.Leu4427=)
c.13348C>T (p.Leu4450=)
c.10048C>T (p.Leu3350=)
c.13759C>T (p.Leu4587=)
c.13282C>T (p.Leu4428=)
c.13306C>T (p.Leu4436=)
c.13360C>T (p.Leu4454=)
c.13252C>T (p.Leu4418=)
c.13429C>T (p.Leu4477=)
c.13417C>T (p.Leu4473=)
c.13774C>T (p.Leu4592=)
c.13375C>T (p.Leu4459=)
c.13363C>T (p.Leu4455=)
c.13321C>T (p.Leu4441=)
c.13297C>T (p.Leu4433=)
c.13267C>T (p.Leu4423=)
c.13444C>T (p.Leu4482=)
c.13294C>T (p.Leu4432=)
c.9994C>T (p.Leu3332=)
8g.143916473G>CCA372474783PLECc.13480C>G (p.Leu4494Val)
c.13399C>G (p.Leu4467Val)
c.13066C>G (p.Leu4356Val)
c.13279C>G (p.Leu4427Val)
c.13348C>G (p.Leu4450Val)
c.10048C>G (p.Leu3350Val)
c.13759C>G (p.Leu4587Val)
c.13282C>G (p.Leu4428Val)
c.13306C>G (p.Leu4436Val)
c.13360C>G (p.Leu4454Val)
c.13252C>G (p.Leu4418Val)
c.13429C>G (p.Leu4477Val)
c.13417C>G (p.Leu4473Val)
c.13774C>G (p.Leu4592Val)
c.13375C>G (p.Leu4459Val)
c.13363C>G (p.Leu4455Val)
c.13321C>G (p.Leu4441Val)
c.13297C>G (p.Leu4433Val)
c.13267C>G (p.Leu4423Val)
c.13444C>G (p.Leu4482Val)
c.13294C>G (p.Leu4432Val)
c.9994C>G (p.Leu3332Val)
8g.143916473G>TCA372474784PLECc.13480C>A (p.Leu4494Met)
c.13399C>A (p.Leu4467Met)
c.13066C>A (p.Leu4356Met)
c.13279C>A (p.Leu4427Met)
c.13348C>A (p.Leu4450Met)
c.10048C>A (p.Leu3350Met)
c.13759C>A (p.Leu4587Met)
c.13282C>A (p.Leu4428Met)
c.13306C>A (p.Leu4436Met)
c.13360C>A (p.Leu4454Met)
c.13252C>A (p.Leu4418Met)
c.13429C>A (p.Leu4477Met)
c.13417C>A (p.Leu4473Met)
c.13774C>A (p.Leu4592Met)
c.13375C>A (p.Leu4459Met)
c.13363C>A (p.Leu4455Met)
c.13321C>A (p.Leu4441Met)
c.13297C>A (p.Leu4433Met)
c.13267C>A (p.Leu4423Met)
c.13444C>A (p.Leu4482Met)
c.13294C>A (p.Leu4432Met)
c.9994C>A (p.Leu3332Met)
 gnomAD v4
8g.143916474C>ACA463526557PLECc.13479G>T (p.Ala4493=)
c.13398G>T (p.Ala4466=)
c.13065G>T (p.Ala4355=)
c.13278G>T (p.Ala4426=)
c.13347G>T (p.Ala4449=)
c.10047G>T (p.Ala3349=)
c.13758G>T (p.Ala4586=)
c.13281G>T (p.Ala4427=)
c.13305G>T (p.Ala4435=)
c.13359G>T (p.Ala4453=)
c.13251G>T (p.Ala4417=)
c.13428G>T (p.Ala4476=)
c.13416G>T (p.Ala4472=)
c.13773G>T (p.Ala4591=)
c.13374G>T (p.Ala4458=)
c.13362G>T (p.Ala4454=)
c.13320G>T (p.Ala4440=)
c.13296G>T (p.Ala4432=)
c.13266G>T (p.Ala4422=)
c.13443G>T (p.Ala4481=)
c.13293G>T (p.Ala4431=)
c.9993G>T (p.Ala3331=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143916474C=CA1826037243PLECc.13479G= (p.Ala4493=)
c.13398G= (p.Ala4466=)
c.13065G= (p.Ala4355=)
c.13278G= (p.Ala4426=)
c.13347G= (p.Ala4449=)
c.10047G= (p.Ala3349=)
c.13758G= (p.Ala4586=)
c.13281G= (p.Ala4427=)
c.13305G= (p.Ala4435=)
c.13359G= (p.Ala4453=)
c.13251G= (p.Ala4417=)
c.13428G= (p.Ala4476=)
c.13416G= (p.Ala4472=)
c.13773G= (p.Ala4591=)
c.13374G= (p.Ala4458=)
c.13362G= (p.Ala4454=)
c.13320G= (p.Ala4440=)
c.13296G= (p.Ala4432=)
c.13266G= (p.Ala4422=)
c.13443G= (p.Ala4481=)
c.13293G= (p.Ala4431=)
c.9993G= (p.Ala3331=)
8g.143916474C>GCA463526556PLECc.13479G>C (p.Ala4493=)
c.13398G>C (p.Ala4466=)
c.13065G>C (p.Ala4355=)
c.13278G>C (p.Ala4426=)
c.13347G>C (p.Ala4449=)
c.10047G>C (p.Ala3349=)
c.13758G>C (p.Ala4586=)
c.13281G>C (p.Ala4427=)
c.13305G>C (p.Ala4435=)
c.13359G>C (p.Ala4453=)
c.13251G>C (p.Ala4417=)
c.13428G>C (p.Ala4476=)
c.13416G>C (p.Ala4472=)
c.13773G>C (p.Ala4591=)
c.13374G>C (p.Ala4458=)
c.13362G>C (p.Ala4454=)
c.13320G>C (p.Ala4440=)
c.13296G>C (p.Ala4432=)
c.13266G>C (p.Ala4422=)
c.13443G>C (p.Ala4481=)
c.13293G>C (p.Ala4431=)
c.9993G>C (p.Ala3331=)
8g.143916474C>TCA4923834PLECc.13479G>A (p.Ala4493=)
c.13398G>A (p.Ala4466=)
c.13065G>A (p.Ala4355=)
c.13278G>A (p.Ala4426=)
c.13347G>A (p.Ala4449=)
c.10047G>A (p.Ala3349=)
c.13758G>A (p.Ala4586=)
c.13281G>A (p.Ala4427=)
c.13305G>A (p.Ala4435=)
c.13359G>A (p.Ala4453=)
c.13251G>A (p.Ala4417=)
c.13428G>A (p.Ala4476=)
c.13416G>A (p.Ala4472=)
c.13773G>A (p.Ala4591=)
c.13374G>A (p.Ala4458=)
c.13362G>A (p.Ala4454=)
c.13320G>A (p.Ala4440=)
c.13296G>A (p.Ala4432=)
c.13266G>A (p.Ala4422=)
c.13443G>A (p.Ala4481=)
c.13293G>A (p.Ala4431=)
c.9993G>A (p.Ala3331=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916475G>ACA4923835PLECc.13478C>T (p.Ala4493Val)
c.13397C>T (p.Ala4466Val)
c.13064C>T (p.Ala4355Val)
c.13277C>T (p.Ala4426Val)
c.13346C>T (p.Ala4449Val)
c.10046C>T (p.Ala3349Val)
c.13757C>T (p.Ala4586Val)
c.13280C>T (p.Ala4427Val)
c.13304C>T (p.Ala4435Val)
c.13358C>T (p.Ala4453Val)
c.13250C>T (p.Ala4417Val)
c.13427C>T (p.Ala4476Val)
c.13415C>T (p.Ala4472Val)
c.13772C>T (p.Ala4591Val)
c.13373C>T (p.Ala4458Val)
c.13361C>T (p.Ala4454Val)
c.13319C>T (p.Ala4440Val)
c.13295C>T (p.Ala4432Val)
c.13265C>T (p.Ala4422Val)
c.13442C>T (p.Ala4481Val)
c.13292C>T (p.Ala4431Val)
c.9992C>T (p.Ala3331Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916475G>CCA372474786PLECc.13478C>G (p.Ala4493Gly)
c.13397C>G (p.Ala4466Gly)
c.13064C>G (p.Ala4355Gly)
c.13277C>G (p.Ala4426Gly)
c.13346C>G (p.Ala4449Gly)
c.10046C>G (p.Ala3349Gly)
c.13757C>G (p.Ala4586Gly)
c.13280C>G (p.Ala4427Gly)
c.13304C>G (p.Ala4435Gly)
c.13358C>G (p.Ala4453Gly)
c.13250C>G (p.Ala4417Gly)
c.13427C>G (p.Ala4476Gly)
c.13415C>G (p.Ala4472Gly)
c.13772C>G (p.Ala4591Gly)
c.13373C>G (p.Ala4458Gly)
c.13361C>G (p.Ala4454Gly)
c.13319C>G (p.Ala4440Gly)
c.13295C>G (p.Ala4432Gly)
c.13265C>G (p.Ala4422Gly)
c.13442C>G (p.Ala4481Gly)
c.13292C>G (p.Ala4431Gly)
c.9992C>G (p.Ala3331Gly)
8g.143916475G=CA1826037246PLECc.13478C= (p.Ala4493=)
c.13397C= (p.Ala4466=)
c.13064C= (p.Ala4355=)
c.13277C= (p.Ala4426=)
c.13346C= (p.Ala4449=)
c.10046C= (p.Ala3349=)
c.13757C= (p.Ala4586=)
c.13280C= (p.Ala4427=)
c.13304C= (p.Ala4435=)
c.13358C= (p.Ala4453=)
c.13250C= (p.Ala4417=)
c.13427C= (p.Ala4476=)
c.13415C= (p.Ala4472=)
c.13772C= (p.Ala4591=)
c.13373C= (p.Ala4458=)
c.13361C= (p.Ala4454=)
c.13319C= (p.Ala4440=)
c.13295C= (p.Ala4432=)
c.13265C= (p.Ala4422=)
c.13442C= (p.Ala4481=)
c.13292C= (p.Ala4431=)
c.9992C= (p.Ala3331=)
8g.143916475G>TCA372474787PLECc.13478C>A (p.Ala4493Glu)
c.13397C>A (p.Ala4466Glu)
c.13064C>A (p.Ala4355Glu)
c.13277C>A (p.Ala4426Glu)
c.13346C>A (p.Ala4449Glu)
c.10046C>A (p.Ala3349Glu)
c.13757C>A (p.Ala4586Glu)
c.13280C>A (p.Ala4427Glu)
c.13304C>A (p.Ala4435Glu)
c.13358C>A (p.Ala4453Glu)
c.13250C>A (p.Ala4417Glu)
c.13427C>A (p.Ala4476Glu)
c.13415C>A (p.Ala4472Glu)
c.13772C>A (p.Ala4591Glu)
c.13373C>A (p.Ala4458Glu)
c.13361C>A (p.Ala4454Glu)
c.13319C>A (p.Ala4440Glu)
c.13295C>A (p.Ala4432Glu)
c.13265C>A (p.Ala4422Glu)
c.13442C>A (p.Ala4481Glu)
c.13292C>A (p.Ala4431Glu)
c.9992C>A (p.Ala3331Glu)
8g.143916476C>ACA372475596PLECc.13477G>T (p.Ala4493Ser)
c.13396G>T (p.Ala4466Ser)
c.13063G>T (p.Ala4355Ser)
c.13276G>T (p.Ala4426Ser)
c.13345G>T (p.Ala4449Ser)
c.10045G>T (p.Ala3349Ser)
c.13756G>T (p.Ala4586Ser)
c.13279G>T (p.Ala4427Ser)
c.13303G>T (p.Ala4435Ser)
c.13357G>T (p.Ala4453Ser)
c.13249G>T (p.Ala4417Ser)
c.13426G>T (p.Ala4476Ser)
c.13414G>T (p.Ala4472Ser)
c.13771G>T (p.Ala4591Ser)
c.13372G>T (p.Ala4458Ser)
c.13360G>T (p.Ala4454Ser)
c.13318G>T (p.Ala4440Ser)
c.13294G>T (p.Ala4432Ser)
c.13264G>T (p.Ala4422Ser)
c.13441G>T (p.Ala4481Ser)
c.13291G>T (p.Ala4431Ser)
c.9991G>T (p.Ala3331Ser)
8g.143916476C=CA1826037250PLECc.13477G= (p.Ala4493=)
c.13396G= (p.Ala4466=)
c.13063G= (p.Ala4355=)
c.13276G= (p.Ala4426=)
c.13345G= (p.Ala4449=)
c.10045G= (p.Ala3349=)
c.13756G= (p.Ala4586=)
c.13279G= (p.Ala4427=)
c.13303G= (p.Ala4435=)
c.13357G= (p.Ala4453=)
c.13249G= (p.Ala4417=)
c.13426G= (p.Ala4476=)
c.13414G= (p.Ala4472=)
c.13771G= (p.Ala4591=)
c.13372G= (p.Ala4458=)
c.13360G= (p.Ala4454=)
c.13318G= (p.Ala4440=)
c.13294G= (p.Ala4432=)
c.13264G= (p.Ala4422=)
c.13441G= (p.Ala4481=)
c.13291G= (p.Ala4431=)
c.9991G= (p.Ala3331=)
8g.143916476C>GCA372475597PLECc.13477G>C (p.Ala4493Pro)
c.13396G>C (p.Ala4466Pro)
c.13063G>C (p.Ala4355Pro)
c.13276G>C (p.Ala4426Pro)
c.13345G>C (p.Ala4449Pro)
c.10045G>C (p.Ala3349Pro)
c.13756G>C (p.Ala4586Pro)
c.13279G>C (p.Ala4427Pro)
c.13303G>C (p.Ala4435Pro)
c.13357G>C (p.Ala4453Pro)
c.13249G>C (p.Ala4417Pro)
c.13426G>C (p.Ala4476Pro)
c.13414G>C (p.Ala4472Pro)
c.13771G>C (p.Ala4591Pro)
c.13372G>C (p.Ala4458Pro)
c.13360G>C (p.Ala4454Pro)
c.13318G>C (p.Ala4440Pro)
c.13294G>C (p.Ala4432Pro)
c.13264G>C (p.Ala4422Pro)
c.13441G>C (p.Ala4481Pro)
c.13291G>C (p.Ala4431Pro)
c.9991G>C (p.Ala3331Pro)
8g.143916476C>TCA4923836PLECc.13477G>A (p.Ala4493Thr)
c.13396G>A (p.Ala4466Thr)
c.13063G>A (p.Ala4355Thr)
c.13276G>A (p.Ala4426Thr)
c.13345G>A (p.Ala4449Thr)
c.10045G>A (p.Ala3349Thr)
c.13756G>A (p.Ala4586Thr)
c.13279G>A (p.Ala4427Thr)
c.13303G>A (p.Ala4435Thr)
c.13357G>A (p.Ala4453Thr)
c.13249G>A (p.Ala4417Thr)
c.13426G>A (p.Ala4476Thr)
c.13414G>A (p.Ala4472Thr)
c.13771G>A (p.Ala4591Thr)
c.13372G>A (p.Ala4458Thr)
c.13360G>A (p.Ala4454Thr)
c.13318G>A (p.Ala4440Thr)
c.13294G>A (p.Ala4432Thr)
c.13264G>A (p.Ala4422Thr)
c.13441G>A (p.Ala4481Thr)
c.13291G>A (p.Ala4431Thr)
c.9991G>A (p.Ala3331Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916477G>ACA4923837PLECc.13476C>T (p.Asp4492=)
c.13395C>T (p.Asp4465=)
c.13062C>T (p.Asp4354=)
c.13275C>T (p.Asp4425=)
c.13344C>T (p.Asp4448=)
c.10044C>T (p.Asp3348=)
c.13755C>T (p.Asp4585=)
c.13278C>T (p.Asp4426=)
c.13302C>T (p.Asp4434=)
c.13356C>T (p.Asp4452=)
c.13248C>T (p.Asp4416=)
c.13425C>T (p.Asp4475=)
c.13413C>T (p.Asp4471=)
c.13770C>T (p.Asp4590=)
c.13371C>T (p.Asp4457=)
c.13359C>T (p.Asp4453=)
c.13317C>T (p.Asp4439=)
c.13293C>T (p.Asp4431=)
c.13263C>T (p.Asp4421=)
c.13440C>T (p.Asp4480=)
c.13290C>T (p.Asp4430=)
c.9990C>T (p.Asp3330=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916477G>CCA372475598PLECc.13476C>G (p.Asp4492Glu)
c.13395C>G (p.Asp4465Glu)
c.13062C>G (p.Asp4354Glu)
c.13275C>G (p.Asp4425Glu)
c.13344C>G (p.Asp4448Glu)
c.10044C>G (p.Asp3348Glu)
c.13755C>G (p.Asp4585Glu)
c.13278C>G (p.Asp4426Glu)
c.13302C>G (p.Asp4434Glu)
c.13356C>G (p.Asp4452Glu)
c.13248C>G (p.Asp4416Glu)
c.13425C>G (p.Asp4475Glu)
c.13413C>G (p.Asp4471Glu)
c.13770C>G (p.Asp4590Glu)
c.13371C>G (p.Asp4457Glu)
c.13359C>G (p.Asp4453Glu)
c.13317C>G (p.Asp4439Glu)
c.13293C>G (p.Asp4431Glu)
c.13263C>G (p.Asp4421Glu)
c.13440C>G (p.Asp4480Glu)
c.13290C>G (p.Asp4430Glu)
c.9990C>G (p.Asp3330Glu)
8g.143916477G=CA1826037252PLECc.13476C= (p.Asp4492=)
c.13395C= (p.Asp4465=)
c.13062C= (p.Asp4354=)
c.13275C= (p.Asp4425=)
c.13344C= (p.Asp4448=)
c.10044C= (p.Asp3348=)
c.13755C= (p.Asp4585=)
c.13278C= (p.Asp4426=)
c.13302C= (p.Asp4434=)
c.13356C= (p.Asp4452=)
c.13248C= (p.Asp4416=)
c.13425C= (p.Asp4475=)
c.13413C= (p.Asp4471=)
c.13770C= (p.Asp4590=)
c.13371C= (p.Asp4457=)
c.13359C= (p.Asp4453=)
c.13317C= (p.Asp4439=)
c.13293C= (p.Asp4431=)
c.13263C= (p.Asp4421=)
c.13440C= (p.Asp4480=)
c.13290C= (p.Asp4430=)
c.9990C= (p.Asp3330=)
8g.143916477G>TCA4923838PLECc.13476C>A (p.Asp4492Glu)
c.13395C>A (p.Asp4465Glu)
c.13062C>A (p.Asp4354Glu)
c.13275C>A (p.Asp4425Glu)
c.13344C>A (p.Asp4448Glu)
c.10044C>A (p.Asp3348Glu)
c.13755C>A (p.Asp4585Glu)
c.13278C>A (p.Asp4426Glu)
c.13302C>A (p.Asp4434Glu)
c.13356C>A (p.Asp4452Glu)
c.13248C>A (p.Asp4416Glu)
c.13425C>A (p.Asp4475Glu)
c.13413C>A (p.Asp4471Glu)
c.13770C>A (p.Asp4590Glu)
c.13371C>A (p.Asp4457Glu)
c.13359C>A (p.Asp4453Glu)
c.13317C>A (p.Asp4439Glu)
c.13293C>A (p.Asp4431Glu)
c.13263C>A (p.Asp4421Glu)
c.13440C>A (p.Asp4480Glu)
c.13290C>A (p.Asp4430Glu)
c.9990C>A (p.Asp3330Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916478T>ACA372475599PLECc.13475A>T (p.Asp4492Val)
c.13394A>T (p.Asp4465Val)
c.13061A>T (p.Asp4354Val)
c.13274A>T (p.Asp4425Val)
c.13343A>T (p.Asp4448Val)
c.10043A>T (p.Asp3348Val)
c.13754A>T (p.Asp4585Val)
c.13277A>T (p.Asp4426Val)
c.13301A>T (p.Asp4434Val)
c.13355A>T (p.Asp4452Val)
c.13247A>T (p.Asp4416Val)
c.13424A>T (p.Asp4475Val)
c.13412A>T (p.Asp4471Val)
c.13769A>T (p.Asp4590Val)
c.13370A>T (p.Asp4457Val)
c.13358A>T (p.Asp4453Val)
c.13316A>T (p.Asp4439Val)
c.13292A>T (p.Asp4431Val)
c.13262A>T (p.Asp4421Val)
c.13439A>T (p.Asp4480Val)
c.13289A>T (p.Asp4430Val)
c.9989A>T (p.Asp3330Val)
8g.143916478T>CCA372475600PLECc.13475A>G (p.Asp4492Gly)
c.13394A>G (p.Asp4465Gly)
c.13061A>G (p.Asp4354Gly)
c.13274A>G (p.Asp4425Gly)
c.13343A>G (p.Asp4448Gly)
c.10043A>G (p.Asp3348Gly)
c.13754A>G (p.Asp4585Gly)
c.13277A>G (p.Asp4426Gly)
c.13301A>G (p.Asp4434Gly)
c.13355A>G (p.Asp4452Gly)
c.13247A>G (p.Asp4416Gly)
c.13424A>G (p.Asp4475Gly)
c.13412A>G (p.Asp4471Gly)
c.13769A>G (p.Asp4590Gly)
c.13370A>G (p.Asp4457Gly)
c.13358A>G (p.Asp4453Gly)
c.13316A>G (p.Asp4439Gly)
c.13292A>G (p.Asp4431Gly)
c.13262A>G (p.Asp4421Gly)
c.13439A>G (p.Asp4480Gly)
c.13289A>G (p.Asp4430Gly)
c.9989A>G (p.Asp3330Gly)
8g.143916478T>GCA372475601PLECc.13475A>C (p.Asp4492Ala)
c.13394A>C (p.Asp4465Ala)
c.13061A>C (p.Asp4354Ala)
c.13274A>C (p.Asp4425Ala)
c.13343A>C (p.Asp4448Ala)
c.10043A>C (p.Asp3348Ala)
c.13754A>C (p.Asp4585Ala)
c.13277A>C (p.Asp4426Ala)
c.13301A>C (p.Asp4434Ala)
c.13355A>C (p.Asp4452Ala)
c.13247A>C (p.Asp4416Ala)
c.13424A>C (p.Asp4475Ala)
c.13412A>C (p.Asp4471Ala)
c.13769A>C (p.Asp4590Ala)
c.13370A>C (p.Asp4457Ala)
c.13358A>C (p.Asp4453Ala)
c.13316A>C (p.Asp4439Ala)
c.13292A>C (p.Asp4431Ala)
c.13262A>C (p.Asp4421Ala)
c.13439A>C (p.Asp4480Ala)
c.13289A>C (p.Asp4430Ala)
c.9989A>C (p.Asp3330Ala)
8g.143916479C>ACA372475602PLECc.13474G>T (p.Asp4492Tyr)
c.13393G>T (p.Asp4465Tyr)
c.13060G>T (p.Asp4354Tyr)
c.13273G>T (p.Asp4425Tyr)
c.13342G>T (p.Asp4448Tyr)
c.10042G>T (p.Asp3348Tyr)
c.13753G>T (p.Asp4585Tyr)
c.13276G>T (p.Asp4426Tyr)
c.13300G>T (p.Asp4434Tyr)
c.13354G>T (p.Asp4452Tyr)
c.13246G>T (p.Asp4416Tyr)
c.13423G>T (p.Asp4475Tyr)
c.13411G>T (p.Asp4471Tyr)
c.13768G>T (p.Asp4590Tyr)
c.13369G>T (p.Asp4457Tyr)
c.13357G>T (p.Asp4453Tyr)
c.13315G>T (p.Asp4439Tyr)
c.13291G>T (p.Asp4431Tyr)
c.13261G>T (p.Asp4421Tyr)
c.13438G>T (p.Asp4480Tyr)
c.13288G>T (p.Asp4430Tyr)
c.9988G>T (p.Asp3330Tyr)
8g.143916479C>GCA372475603PLECc.13474G>C (p.Asp4492His)
c.13393G>C (p.Asp4465His)
c.13060G>C (p.Asp4354His)
c.13273G>C (p.Asp4425His)
c.13342G>C (p.Asp4448His)
c.10042G>C (p.Asp3348His)
c.13753G>C (p.Asp4585His)
c.13276G>C (p.Asp4426His)
c.13300G>C (p.Asp4434His)
c.13354G>C (p.Asp4452His)
c.13246G>C (p.Asp4416His)
c.13423G>C (p.Asp4475His)
c.13411G>C (p.Asp4471His)
c.13768G>C (p.Asp4590His)
c.13369G>C (p.Asp4457His)
c.13357G>C (p.Asp4453His)
c.13315G>C (p.Asp4439His)
c.13291G>C (p.Asp4431His)
c.13261G>C (p.Asp4421His)
c.13438G>C (p.Asp4480His)
c.13288G>C (p.Asp4430His)
c.9988G>C (p.Asp3330His)
8g.143916479C>TCA372475604PLECc.13474G>A (p.Asp4492Asn)
c.13393G>A (p.Asp4465Asn)
c.13060G>A (p.Asp4354Asn)
c.13273G>A (p.Asp4425Asn)
c.13342G>A (p.Asp4448Asn)
c.10042G>A (p.Asp3348Asn)
c.13753G>A (p.Asp4585Asn)
c.13276G>A (p.Asp4426Asn)
c.13300G>A (p.Asp4434Asn)
c.13354G>A (p.Asp4452Asn)
c.13246G>A (p.Asp4416Asn)
c.13423G>A (p.Asp4475Asn)
c.13411G>A (p.Asp4471Asn)
c.13768G>A (p.Asp4590Asn)
c.13369G>A (p.Asp4457Asn)
c.13357G>A (p.Asp4453Asn)
c.13315G>A (p.Asp4439Asn)
c.13291G>A (p.Asp4431Asn)
c.13261G>A (p.Asp4421Asn)
c.13438G>A (p.Asp4480Asn)
c.13288G>A (p.Asp4430Asn)
c.9988G>A (p.Asp3330Asn)
8g.143916480C>ACA372475605PLECc.13473G>T (p.Lys4491Asn)
c.13392G>T (p.Lys4464Asn)
c.13059G>T (p.Lys4353Asn)
c.13272G>T (p.Lys4424Asn)
c.13341G>T (p.Lys4447Asn)
c.10041G>T (p.Lys3347Asn)
c.13752G>T (p.Lys4584Asn)
c.13275G>T (p.Lys4425Asn)
c.13299G>T (p.Lys4433Asn)
c.13353G>T (p.Lys4451Asn)
c.13245G>T (p.Lys4415Asn)
c.13422G>T (p.Lys4474Asn)
c.13410G>T (p.Lys4470Asn)
c.13767G>T (p.Lys4589Asn)
c.13368G>T (p.Lys4456Asn)
c.13356G>T (p.Lys4452Asn)
c.13314G>T (p.Lys4438Asn)
c.13290G>T (p.Lys4430Asn)
c.13260G>T (p.Lys4420Asn)
c.13437G>T (p.Lys4479Asn)
c.13287G>T (p.Lys4429Asn)
c.9987G>T (p.Lys3329Asn)
8g.143916480C=CA1826037254PLECc.13473G= (p.Lys4491=)
c.13392G= (p.Lys4464=)
c.13059G= (p.Lys4353=)
c.13272G= (p.Lys4424=)
c.13341G= (p.Lys4447=)
c.10041G= (p.Lys3347=)
c.13752G= (p.Lys4584=)
c.13275G= (p.Lys4425=)
c.13299G= (p.Lys4433=)
c.13353G= (p.Lys4451=)
c.13245G= (p.Lys4415=)
c.13422G= (p.Lys4474=)
c.13410G= (p.Lys4470=)
c.13767G= (p.Lys4589=)
c.13368G= (p.Lys4456=)
c.13356G= (p.Lys4452=)
c.13314G= (p.Lys4438=)
c.13290G= (p.Lys4430=)
c.13260G= (p.Lys4420=)
c.13437G= (p.Lys4479=)
c.13287G= (p.Lys4429=)
c.9987G= (p.Lys3329=)
8g.143916480C>GCA372475606PLECc.13473G>C (p.Lys4491Asn)
c.13392G>C (p.Lys4464Asn)
c.13059G>C (p.Lys4353Asn)
c.13272G>C (p.Lys4424Asn)
c.13341G>C (p.Lys4447Asn)
c.10041G>C (p.Lys3347Asn)
c.13752G>C (p.Lys4584Asn)
c.13275G>C (p.Lys4425Asn)
c.13299G>C (p.Lys4433Asn)
c.13353G>C (p.Lys4451Asn)
c.13245G>C (p.Lys4415Asn)
c.13422G>C (p.Lys4474Asn)
c.13410G>C (p.Lys4470Asn)
c.13767G>C (p.Lys4589Asn)
c.13368G>C (p.Lys4456Asn)
c.13356G>C (p.Lys4452Asn)
c.13314G>C (p.Lys4438Asn)
c.13290G>C (p.Lys4430Asn)
c.13260G>C (p.Lys4420Asn)
c.13437G>C (p.Lys4479Asn)
c.13287G>C (p.Lys4429Asn)
c.9987G>C (p.Lys3329Asn)
 dbSNP gnomAD v2 gnomAD v4
8g.143916480C>TCA463525597PLECc.13473G>A (p.Lys4491=)
c.13392G>A (p.Lys4464=)
c.13059G>A (p.Lys4353=)
c.13272G>A (p.Lys4424=)
c.13341G>A (p.Lys4447=)
c.10041G>A (p.Lys3347=)
c.13752G>A (p.Lys4584=)
c.13275G>A (p.Lys4425=)
c.13299G>A (p.Lys4433=)
c.13353G>A (p.Lys4451=)
c.13245G>A (p.Lys4415=)
c.13422G>A (p.Lys4474=)
c.13410G>A (p.Lys4470=)
c.13767G>A (p.Lys4589=)
c.13368G>A (p.Lys4456=)
c.13356G>A (p.Lys4452=)
c.13314G>A (p.Lys4438=)
c.13290G>A (p.Lys4430=)
c.13260G>A (p.Lys4420=)
c.13437G>A (p.Lys4479=)
c.13287G>A (p.Lys4429=)
c.9987G>A (p.Lys3329=)
8g.143916481T>ACA372475607PLECc.13472A>T (p.Lys4491Met)
c.13391A>T (p.Lys4464Met)
c.13058A>T (p.Lys4353Met)
c.13271A>T (p.Lys4424Met)
c.13340A>T (p.Lys4447Met)
c.10040A>T (p.Lys3347Met)
c.13751A>T (p.Lys4584Met)
c.13274A>T (p.Lys4425Met)
c.13298A>T (p.Lys4433Met)
c.13352A>T (p.Lys4451Met)
c.13244A>T (p.Lys4415Met)
c.13421A>T (p.Lys4474Met)
c.13409A>T (p.Lys4470Met)
c.13766A>T (p.Lys4589Met)
c.13367A>T (p.Lys4456Met)
c.13355A>T (p.Lys4452Met)
c.13313A>T (p.Lys4438Met)
c.13289A>T (p.Lys4430Met)
c.13259A>T (p.Lys4420Met)
c.13436A>T (p.Lys4479Met)
c.13286A>T (p.Lys4429Met)
c.9986A>T (p.Lys3329Met)
8g.143916481T>CCA372475608PLECc.13472A>G (p.Lys4491Arg)
c.13391A>G (p.Lys4464Arg)
c.13058A>G (p.Lys4353Arg)
c.13271A>G (p.Lys4424Arg)
c.13340A>G (p.Lys4447Arg)
c.10040A>G (p.Lys3347Arg)
c.13751A>G (p.Lys4584Arg)
c.13274A>G (p.Lys4425Arg)
c.13298A>G (p.Lys4433Arg)
c.13352A>G (p.Lys4451Arg)
c.13244A>G (p.Lys4415Arg)
c.13421A>G (p.Lys4474Arg)
c.13409A>G (p.Lys4470Arg)
c.13766A>G (p.Lys4589Arg)
c.13367A>G (p.Lys4456Arg)
c.13355A>G (p.Lys4452Arg)
c.13313A>G (p.Lys4438Arg)
c.13289A>G (p.Lys4430Arg)
c.13259A>G (p.Lys4420Arg)
c.13436A>G (p.Lys4479Arg)
c.13286A>G (p.Lys4429Arg)
c.9986A>G (p.Lys3329Arg)
8g.143916481T>GCA372475609PLECc.13472A>C (p.Lys4491Thr)
c.13391A>C (p.Lys4464Thr)
c.13058A>C (p.Lys4353Thr)
c.13271A>C (p.Lys4424Thr)
c.13340A>C (p.Lys4447Thr)
c.10040A>C (p.Lys3347Thr)
c.13751A>C (p.Lys4584Thr)
c.13274A>C (p.Lys4425Thr)
c.13298A>C (p.Lys4433Thr)
c.13352A>C (p.Lys4451Thr)
c.13244A>C (p.Lys4415Thr)
c.13421A>C (p.Lys4474Thr)
c.13409A>C (p.Lys4470Thr)
c.13766A>C (p.Lys4589Thr)
c.13367A>C (p.Lys4456Thr)
c.13355A>C (p.Lys4452Thr)
c.13313A>C (p.Lys4438Thr)
c.13289A>C (p.Lys4430Thr)
c.13259A>C (p.Lys4420Thr)
c.13436A>C (p.Lys4479Thr)
c.13286A>C (p.Lys4429Thr)
c.9986A>C (p.Lys3329Thr)
 dbSNP
8g.143916481T=CA1826037256PLECc.13472A= (p.Lys4491=)
c.13391A= (p.Lys4464=)
c.13058A= (p.Lys4353=)
c.13271A= (p.Lys4424=)
c.13340A= (p.Lys4447=)
c.10040A= (p.Lys3347=)
c.13751A= (p.Lys4584=)
c.13274A= (p.Lys4425=)
c.13298A= (p.Lys4433=)
c.13352A= (p.Lys4451=)
c.13244A= (p.Lys4415=)
c.13421A= (p.Lys4474=)
c.13409A= (p.Lys4470=)
c.13766A= (p.Lys4589=)
c.13367A= (p.Lys4456=)
c.13355A= (p.Lys4452=)
c.13313A= (p.Lys4438=)
c.13289A= (p.Lys4430=)
c.13259A= (p.Lys4420=)
c.13436A= (p.Lys4479=)
c.13286A= (p.Lys4429=)
c.9986A= (p.Lys3329=)
8g.143916482T>ACA372475610PLECc.13471A>T (p.Lys4491Ter)
c.13390A>T (p.Lys4464Ter)
c.13057A>T (p.Lys4353Ter)
c.13270A>T (p.Lys4424Ter)
c.13339A>T (p.Lys4447Ter)
c.10039A>T (p.Lys3347Ter)
c.13750A>T (p.Lys4584Ter)
c.13273A>T (p.Lys4425Ter)
c.13297A>T (p.Lys4433Ter)
c.13351A>T (p.Lys4451Ter)
c.13243A>T (p.Lys4415Ter)
c.13420A>T (p.Lys4474Ter)
c.13408A>T (p.Lys4470Ter)
c.13765A>T (p.Lys4589Ter)
c.13366A>T (p.Lys4456Ter)
c.13354A>T (p.Lys4452Ter)
c.13312A>T (p.Lys4438Ter)
c.13288A>T (p.Lys4430Ter)
c.13258A>T (p.Lys4420Ter)
c.13435A>T (p.Lys4479Ter)
c.13285A>T (p.Lys4429Ter)
c.9985A>T (p.Lys3329Ter)
8g.143916482T>CCA372475611PLECc.13471A>G (p.Lys4491Glu)
c.13390A>G (p.Lys4464Glu)
c.13057A>G (p.Lys4353Glu)
c.13270A>G (p.Lys4424Glu)
c.13339A>G (p.Lys4447Glu)
c.10039A>G (p.Lys3347Glu)
c.13750A>G (p.Lys4584Glu)
c.13273A>G (p.Lys4425Glu)
c.13297A>G (p.Lys4433Glu)
c.13351A>G (p.Lys4451Glu)
c.13243A>G (p.Lys4415Glu)
c.13420A>G (p.Lys4474Glu)
c.13408A>G (p.Lys4470Glu)
c.13765A>G (p.Lys4589Glu)
c.13366A>G (p.Lys4456Glu)
c.13354A>G (p.Lys4452Glu)
c.13312A>G (p.Lys4438Glu)
c.13288A>G (p.Lys4430Glu)
c.13258A>G (p.Lys4420Glu)
c.13435A>G (p.Lys4479Glu)
c.13285A>G (p.Lys4429Glu)
c.9985A>G (p.Lys3329Glu)
8g.143916482T>GCA372475612PLECc.13471A>C (p.Lys4491Gln)
c.13390A>C (p.Lys4464Gln)
c.13057A>C (p.Lys4353Gln)
c.13270A>C (p.Lys4424Gln)
c.13339A>C (p.Lys4447Gln)
c.10039A>C (p.Lys3347Gln)
c.13750A>C (p.Lys4584Gln)
c.13273A>C (p.Lys4425Gln)
c.13297A>C (p.Lys4433Gln)
c.13351A>C (p.Lys4451Gln)
c.13243A>C (p.Lys4415Gln)
c.13420A>C (p.Lys4474Gln)
c.13408A>C (p.Lys4470Gln)
c.13765A>C (p.Lys4589Gln)
c.13366A>C (p.Lys4456Gln)
c.13354A>C (p.Lys4452Gln)
c.13312A>C (p.Lys4438Gln)
c.13288A>C (p.Lys4430Gln)
c.13258A>C (p.Lys4420Gln)
c.13435A>C (p.Lys4479Gln)
c.13285A>C (p.Lys4429Gln)
c.9985A>C (p.Lys3329Gln)
8g.143916483A>CCA372475614PLECc.13470T>G (p.Tyr4490Ter)
c.13389T>G (p.Tyr4463Ter)
c.13056T>G (p.Tyr4352Ter)
c.13269T>G (p.Tyr4423Ter)
c.13338T>G (p.Tyr4446Ter)
c.10038T>G (p.Tyr3346Ter)
c.13749T>G (p.Tyr4583Ter)
c.13272T>G (p.Tyr4424Ter)
c.13296T>G (p.Tyr4432Ter)
c.13350T>G (p.Tyr4450Ter)
c.13242T>G (p.Tyr4414Ter)
c.13419T>G (p.Tyr4473Ter)
c.13407T>G (p.Tyr4469Ter)
c.13764T>G (p.Tyr4588Ter)
c.13365T>G (p.Tyr4455Ter)
c.13353T>G (p.Tyr4451Ter)
c.13311T>G (p.Tyr4437Ter)
c.13287T>G (p.Tyr4429Ter)
c.13257T>G (p.Tyr4419Ter)
c.13434T>G (p.Tyr4478Ter)
c.13284T>G (p.Tyr4428Ter)
c.9984T>G (p.Tyr3328Ter)
8g.143916483A>GCA463525601PLECc.13470T>C (p.Tyr4490=)
c.13389T>C (p.Tyr4463=)
c.13056T>C (p.Tyr4352=)
c.13269T>C (p.Tyr4423=)
c.13338T>C (p.Tyr4446=)
c.10038T>C (p.Tyr3346=)
c.13749T>C (p.Tyr4583=)
c.13272T>C (p.Tyr4424=)
c.13296T>C (p.Tyr4432=)
c.13350T>C (p.Tyr4450=)
c.13242T>C (p.Tyr4414=)
c.13419T>C (p.Tyr4473=)
c.13407T>C (p.Tyr4469=)
c.13764T>C (p.Tyr4588=)
c.13365T>C (p.Tyr4455=)
c.13353T>C (p.Tyr4451=)
c.13311T>C (p.Tyr4437=)
c.13287T>C (p.Tyr4429=)
c.13257T>C (p.Tyr4419=)
c.13434T>C (p.Tyr4478=)
c.13284T>C (p.Tyr4428=)
c.9984T>C (p.Tyr3328=)
8g.143916483A>TCA372475613PLECc.13470T>A (p.Tyr4490Ter)
c.13389T>A (p.Tyr4463Ter)
c.13056T>A (p.Tyr4352Ter)
c.13269T>A (p.Tyr4423Ter)
c.13338T>A (p.Tyr4446Ter)
c.10038T>A (p.Tyr3346Ter)
c.13749T>A (p.Tyr4583Ter)
c.13272T>A (p.Tyr4424Ter)
c.13296T>A (p.Tyr4432Ter)
c.13350T>A (p.Tyr4450Ter)
c.13242T>A (p.Tyr4414Ter)
c.13419T>A (p.Tyr4473Ter)
c.13407T>A (p.Tyr4469Ter)
c.13764T>A (p.Tyr4588Ter)
c.13365T>A (p.Tyr4455Ter)
c.13353T>A (p.Tyr4451Ter)
c.13311T>A (p.Tyr4437Ter)
c.13287T>A (p.Tyr4429Ter)
c.13257T>A (p.Tyr4419Ter)
c.13434T>A (p.Tyr4478Ter)
c.13284T>A (p.Tyr4428Ter)
c.9984T>A (p.Tyr3328Ter)
8g.143916484T>ACA372475615PLECc.13469A>T (p.Tyr4490Phe)
c.13388A>T (p.Tyr4463Phe)
c.13055A>T (p.Tyr4352Phe)
c.13268A>T (p.Tyr4423Phe)
c.13337A>T (p.Tyr4446Phe)
c.10037A>T (p.Tyr3346Phe)
c.13748A>T (p.Tyr4583Phe)
c.13271A>T (p.Tyr4424Phe)
c.13295A>T (p.Tyr4432Phe)
c.13349A>T (p.Tyr4450Phe)
c.13241A>T (p.Tyr4414Phe)
c.13418A>T (p.Tyr4473Phe)
c.13406A>T (p.Tyr4469Phe)
c.13763A>T (p.Tyr4588Phe)
c.13364A>T (p.Tyr4455Phe)
c.13352A>T (p.Tyr4451Phe)
c.13310A>T (p.Tyr4437Phe)
c.13286A>T (p.Tyr4429Phe)
c.13256A>T (p.Tyr4419Phe)
c.13433A>T (p.Tyr4478Phe)
c.13283A>T (p.Tyr4428Phe)
c.9983A>T (p.Tyr3328Phe)
 gnomAD v4
8g.143916484T>CCA372475616PLECc.13469A>G (p.Tyr4490Cys)
c.13388A>G (p.Tyr4463Cys)
c.13055A>G (p.Tyr4352Cys)
c.13268A>G (p.Tyr4423Cys)
c.13337A>G (p.Tyr4446Cys)
c.10037A>G (p.Tyr3346Cys)
c.13748A>G (p.Tyr4583Cys)
c.13271A>G (p.Tyr4424Cys)
c.13295A>G (p.Tyr4432Cys)
c.13349A>G (p.Tyr4450Cys)
c.13241A>G (p.Tyr4414Cys)
c.13418A>G (p.Tyr4473Cys)
c.13406A>G (p.Tyr4469Cys)
c.13763A>G (p.Tyr4588Cys)
c.13364A>G (p.Tyr4455Cys)
c.13352A>G (p.Tyr4451Cys)
c.13310A>G (p.Tyr4437Cys)
c.13286A>G (p.Tyr4429Cys)
c.13256A>G (p.Tyr4419Cys)
c.13433A>G (p.Tyr4478Cys)
c.13283A>G (p.Tyr4428Cys)
c.9983A>G (p.Tyr3328Cys)
 gnomAD v4
8g.143916484T>GCA372475617PLECc.13469A>C (p.Tyr4490Ser)
c.13388A>C (p.Tyr4463Ser)
c.13055A>C (p.Tyr4352Ser)
c.13268A>C (p.Tyr4423Ser)
c.13337A>C (p.Tyr4446Ser)
c.10037A>C (p.Tyr3346Ser)
c.13748A>C (p.Tyr4583Ser)
c.13271A>C (p.Tyr4424Ser)
c.13295A>C (p.Tyr4432Ser)
c.13349A>C (p.Tyr4450Ser)
c.13241A>C (p.Tyr4414Ser)
c.13418A>C (p.Tyr4473Ser)
c.13406A>C (p.Tyr4469Ser)
c.13763A>C (p.Tyr4588Ser)
c.13364A>C (p.Tyr4455Ser)
c.13352A>C (p.Tyr4451Ser)
c.13310A>C (p.Tyr4437Ser)
c.13286A>C (p.Tyr4429Ser)
c.13256A>C (p.Tyr4419Ser)
c.13433A>C (p.Tyr4478Ser)
c.13283A>C (p.Tyr4428Ser)
c.9983A>C (p.Tyr3328Ser)
8g.143916484_143916487delinsTAGGCA1826037257PLECc.13466_13469delinsCCTA (p.Ser4489=)
c.13385_13388delinsCCTA (p.Ser4462=)
c.13052_13055delinsCCTA (p.Ser4351=)
c.13265_13268delinsCCTA (p.Ser4422=)
c.13334_13337delinsCCTA (p.Ser4445=)
c.10034_10037delinsCCTA (p.Ser3345=)
c.13745_13748delinsCCTA (p.Ser4582=)
c.13268_13271delinsCCTA (p.Ser4423=)
c.13292_13295delinsCCTA (p.Ser4431=)
c.13346_13349delinsCCTA (p.Ser4449=)
c.13238_13241delinsCCTA (p.Ser4413=)
c.13415_13418delinsCCTA (p.Ser4472=)
c.13403_13406delinsCCTA (p.Ser4468=)
c.13760_13763delinsCCTA (p.Ser4587=)
c.13361_13364delinsCCTA (p.Ser4454=)
c.13349_13352delinsCCTA (p.Ser4450=)
c.13307_13310delinsCCTA (p.Ser4436=)
c.13283_13286delinsCCTA (p.Ser4428=)
c.13253_13256delinsCCTA (p.Ser4418=)
c.13430_13433delinsCCTA (p.Ser4477=)
c.13280_13283delinsCCTA (p.Ser4427=)
c.9980_9983delinsCCTA (p.Ser3327=)
8g.143916485A>CCA372475618PLECc.13468T>G (p.Tyr4490Asp)
c.13387T>G (p.Tyr4463Asp)
c.13054T>G (p.Tyr4352Asp)
c.13267T>G (p.Tyr4423Asp)
c.13336T>G (p.Tyr4446Asp)
c.10036T>G (p.Tyr3346Asp)
c.13747T>G (p.Tyr4583Asp)
c.13270T>G (p.Tyr4424Asp)
c.13294T>G (p.Tyr4432Asp)
c.13348T>G (p.Tyr4450Asp)
c.13240T>G (p.Tyr4414Asp)
c.13417T>G (p.Tyr4473Asp)
c.13405T>G (p.Tyr4469Asp)
c.13762T>G (p.Tyr4588Asp)
c.13363T>G (p.Tyr4455Asp)
c.13351T>G (p.Tyr4451Asp)
c.13309T>G (p.Tyr4437Asp)
c.13285T>G (p.Tyr4429Asp)
c.13255T>G (p.Tyr4419Asp)
c.13432T>G (p.Tyr4478Asp)
c.13282T>G (p.Tyr4428Asp)
c.9982T>G (p.Tyr3328Asp)
 gnomAD v4
8g.143916485A>GCA372475619PLECc.13468T>C (p.Tyr4490His)
c.13387T>C (p.Tyr4463His)
c.13054T>C (p.Tyr4352His)
c.13267T>C (p.Tyr4423His)
c.13336T>C (p.Tyr4446His)
c.10036T>C (p.Tyr3346His)
c.13747T>C (p.Tyr4583His)
c.13270T>C (p.Tyr4424His)
c.13294T>C (p.Tyr4432His)
c.13348T>C (p.Tyr4450His)
c.13240T>C (p.Tyr4414His)
c.13417T>C (p.Tyr4473His)
c.13405T>C (p.Tyr4469His)
c.13762T>C (p.Tyr4588His)
c.13363T>C (p.Tyr4455His)
c.13351T>C (p.Tyr4451His)
c.13309T>C (p.Tyr4437His)
c.13285T>C (p.Tyr4429His)
c.13255T>C (p.Tyr4419His)
c.13432T>C (p.Tyr4478His)
c.13282T>C (p.Tyr4428His)
c.9982T>C (p.Tyr3328His)
8g.143916485A>TCA372475620PLECc.13468T>A (p.Tyr4490Asn)
c.13387T>A (p.Tyr4463Asn)
c.13054T>A (p.Tyr4352Asn)
c.13267T>A (p.Tyr4423Asn)
c.13336T>A (p.Tyr4446Asn)
c.10036T>A (p.Tyr3346Asn)
c.13747T>A (p.Tyr4583Asn)
c.13270T>A (p.Tyr4424Asn)
c.13294T>A (p.Tyr4432Asn)
c.13348T>A (p.Tyr4450Asn)
c.13240T>A (p.Tyr4414Asn)
c.13417T>A (p.Tyr4473Asn)
c.13405T>A (p.Tyr4469Asn)
c.13762T>A (p.Tyr4588Asn)
c.13363T>A (p.Tyr4455Asn)
c.13351T>A (p.Tyr4451Asn)
c.13309T>A (p.Tyr4437Asn)
c.13285T>A (p.Tyr4429Asn)
c.13255T>A (p.Tyr4419Asn)
c.13432T>A (p.Tyr4478Asn)
c.13282T>A (p.Tyr4428Asn)
c.9982T>A (p.Tyr3328Asn)
8g.143916487_143916489delCA848820434PLECc.13466_13468del (p.Ser4489del)
c.13385_13387del (p.Ser4462del)
c.13052_13054del (p.Ser4351del)
c.13265_13267del (p.Ser4422del)
c.13334_13336del (p.Ser4445del)
c.10034_10036del (p.Ser3345del)
c.13745_13747del (p.Ser4582del)
c.13268_13270del (p.Ser4423del)
c.13292_13294del (p.Ser4431del)
c.13346_13348del (p.Ser4449del)
c.13238_13240del (p.Ser4413del)
c.13415_13417del (p.Ser4472del)
c.13403_13405del (p.Ser4468del)
c.13760_13762del (p.Ser4587del)
c.13361_13363del (p.Ser4454del)
c.13349_13351del (p.Ser4450del)
c.13307_13309del (p.Ser4436del)
c.13283_13285del (p.Ser4428del)
c.13253_13255del (p.Ser4418del)
c.13430_13432del (p.Ser4477del)
c.13280_13282del (p.Ser4427del)
c.9980_9982del (p.Ser3327del)
 dbSNP gnomAD v4
8g.143916486G>ACA463525607PLECc.13467C>T (p.Ser4489=)
c.13386C>T (p.Ser4462=)
c.13053C>T (p.Ser4351=)
c.13266C>T (p.Ser4422=)
c.13335C>T (p.Ser4445=)
c.10035C>T (p.Ser3345=)
c.13746C>T (p.Ser4582=)
c.13269C>T (p.Ser4423=)
c.13293C>T (p.Ser4431=)
c.13347C>T (p.Ser4449=)
c.13239C>T (p.Ser4413=)
c.13416C>T (p.Ser4472=)
c.13404C>T (p.Ser4468=)
c.13761C>T (p.Ser4587=)
c.13362C>T (p.Ser4454=)
c.13350C>T (p.Ser4450=)
c.13308C>T (p.Ser4436=)
c.13284C>T (p.Ser4428=)
c.13254C>T (p.Ser4418=)
c.13431C>T (p.Ser4477=)
c.13281C>T (p.Ser4427=)
c.9981C>T (p.Ser3327=)
 dbSNP gnomAD v2 gnomAD v4
8g.143916486G>CCA463525606PLECc.13467C>G (p.Ser4489=)
c.13386C>G (p.Ser4462=)
c.13053C>G (p.Ser4351=)
c.13266C>G (p.Ser4422=)
c.13335C>G (p.Ser4445=)
c.10035C>G (p.Ser3345=)
c.13746C>G (p.Ser4582=)
c.13269C>G (p.Ser4423=)
c.13293C>G (p.Ser4431=)
c.13347C>G (p.Ser4449=)
c.13239C>G (p.Ser4413=)
c.13416C>G (p.Ser4472=)
c.13404C>G (p.Ser4468=)
c.13761C>G (p.Ser4587=)
c.13362C>G (p.Ser4454=)
c.13350C>G (p.Ser4450=)
c.13308C>G (p.Ser4436=)
c.13284C>G (p.Ser4428=)
c.13254C>G (p.Ser4418=)
c.13431C>G (p.Ser4477=)
c.13281C>G (p.Ser4427=)
c.9981C>G (p.Ser3327=)
8g.143916486G=CA1826037262PLECc.13467C= (p.Ser4489=)
c.13386C= (p.Ser4462=)
c.13053C= (p.Ser4351=)
c.13266C= (p.Ser4422=)
c.13335C= (p.Ser4445=)
c.10035C= (p.Ser3345=)
c.13746C= (p.Ser4582=)
c.13269C= (p.Ser4423=)
c.13293C= (p.Ser4431=)
c.13347C= (p.Ser4449=)
c.13239C= (p.Ser4413=)
c.13416C= (p.Ser4472=)
c.13404C= (p.Ser4468=)
c.13761C= (p.Ser4587=)
c.13362C= (p.Ser4454=)
c.13350C= (p.Ser4450=)
c.13308C= (p.Ser4436=)
c.13284C= (p.Ser4428=)
c.13254C= (p.Ser4418=)
c.13431C= (p.Ser4477=)
c.13281C= (p.Ser4427=)
c.9981C= (p.Ser3327=)
8g.143916486G>TCA463525605PLECc.13467C>A (p.Ser4489=)
c.13386C>A (p.Ser4462=)
c.13053C>A (p.Ser4351=)
c.13266C>A (p.Ser4422=)
c.13335C>A (p.Ser4445=)
c.10035C>A (p.Ser3345=)
c.13746C>A (p.Ser4582=)
c.13269C>A (p.Ser4423=)
c.13293C>A (p.Ser4431=)
c.13347C>A (p.Ser4449=)
c.13239C>A (p.Ser4413=)
c.13416C>A (p.Ser4472=)
c.13404C>A (p.Ser4468=)
c.13761C>A (p.Ser4587=)
c.13362C>A (p.Ser4454=)
c.13350C>A (p.Ser4450=)
c.13308C>A (p.Ser4436=)
c.13284C>A (p.Ser4428=)
c.13254C>A (p.Ser4418=)
c.13431C>A (p.Ser4477=)
c.13281C>A (p.Ser4427=)
c.9981C>A (p.Ser3327=)
 dbSNP gnomAD v2 gnomAD v4
8g.143916487G>ACA372475621PLECc.13466C>T (p.Ser4489Phe)
c.13385C>T (p.Ser4462Phe)
c.13052C>T (p.Ser4351Phe)
c.13265C>T (p.Ser4422Phe)
c.13334C>T (p.Ser4445Phe)
c.10034C>T (p.Ser3345Phe)
c.13745C>T (p.Ser4582Phe)
c.13268C>T (p.Ser4423Phe)
c.13292C>T (p.Ser4431Phe)
c.13346C>T (p.Ser4449Phe)
c.13238C>T (p.Ser4413Phe)
c.13415C>T (p.Ser4472Phe)
c.13403C>T (p.Ser4468Phe)
c.13760C>T (p.Ser4587Phe)
c.13361C>T (p.Ser4454Phe)
c.13349C>T (p.Ser4450Phe)
c.13307C>T (p.Ser4436Phe)
c.13283C>T (p.Ser4428Phe)
c.13253C>T (p.Ser4418Phe)
c.13430C>T (p.Ser4477Phe)
c.13280C>T (p.Ser4427Phe)
c.9980C>T (p.Ser3327Phe)
8g.143916487G>CCA372475622PLECc.13466C>G (p.Ser4489Cys)
c.13385C>G (p.Ser4462Cys)
c.13052C>G (p.Ser4351Cys)
c.13265C>G (p.Ser4422Cys)
c.13334C>G (p.Ser4445Cys)
c.10034C>G (p.Ser3345Cys)
c.13745C>G (p.Ser4582Cys)
c.13268C>G (p.Ser4423Cys)
c.13292C>G (p.Ser4431Cys)
c.13346C>G (p.Ser4449Cys)
c.13238C>G (p.Ser4413Cys)
c.13415C>G (p.Ser4472Cys)
c.13403C>G (p.Ser4468Cys)
c.13760C>G (p.Ser4587Cys)
c.13361C>G (p.Ser4454Cys)
c.13349C>G (p.Ser4450Cys)
c.13307C>G (p.Ser4436Cys)
c.13283C>G (p.Ser4428Cys)
c.13253C>G (p.Ser4418Cys)
c.13430C>G (p.Ser4477Cys)
c.13280C>G (p.Ser4427Cys)
c.9980C>G (p.Ser3327Cys)
8g.143916487G>TCA372475623PLECc.13466C>A (p.Ser4489Tyr)
c.13385C>A (p.Ser4462Tyr)
c.13052C>A (p.Ser4351Tyr)
c.13265C>A (p.Ser4422Tyr)
c.13334C>A (p.Ser4445Tyr)
c.10034C>A (p.Ser3345Tyr)
c.13745C>A (p.Ser4582Tyr)
c.13268C>A (p.Ser4423Tyr)
c.13292C>A (p.Ser4431Tyr)
c.13346C>A (p.Ser4449Tyr)
c.13238C>A (p.Ser4413Tyr)
c.13415C>A (p.Ser4472Tyr)
c.13403C>A (p.Ser4468Tyr)
c.13760C>A (p.Ser4587Tyr)
c.13361C>A (p.Ser4454Tyr)
c.13349C>A (p.Ser4450Tyr)
c.13307C>A (p.Ser4436Tyr)
c.13283C>A (p.Ser4428Tyr)
c.13253C>A (p.Ser4418Tyr)
c.13430C>A (p.Ser4477Tyr)
c.13280C>A (p.Ser4427Tyr)
c.9980C>A (p.Ser3327Tyr)
8g.143916488A>CCA372475624PLECc.13465T>G (p.Ser4489Ala)
c.13384T>G (p.Ser4462Ala)
c.13051T>G (p.Ser4351Ala)
c.13264T>G (p.Ser4422Ala)
c.13333T>G (p.Ser4445Ala)
c.10033T>G (p.Ser3345Ala)
c.13744T>G (p.Ser4582Ala)
c.13267T>G (p.Ser4423Ala)
c.13291T>G (p.Ser4431Ala)
c.13345T>G (p.Ser4449Ala)
c.13237T>G (p.Ser4413Ala)
c.13414T>G (p.Ser4472Ala)
c.13402T>G (p.Ser4468Ala)
c.13759T>G (p.Ser4587Ala)
c.13360T>G (p.Ser4454Ala)
c.13348T>G (p.Ser4450Ala)
c.13306T>G (p.Ser4436Ala)
c.13282T>G (p.Ser4428Ala)
c.13252T>G (p.Ser4418Ala)
c.13429T>G (p.Ser4477Ala)
c.13279T>G (p.Ser4427Ala)
c.9979T>G (p.Ser3327Ala)
8g.143916488A>GCA372475625PLECc.13465T>C (p.Ser4489Pro)
c.13384T>C (p.Ser4462Pro)
c.13051T>C (p.Ser4351Pro)
c.13264T>C (p.Ser4422Pro)
c.13333T>C (p.Ser4445Pro)
c.10033T>C (p.Ser3345Pro)
c.13744T>C (p.Ser4582Pro)
c.13267T>C (p.Ser4423Pro)
c.13291T>C (p.Ser4431Pro)
c.13345T>C (p.Ser4449Pro)
c.13237T>C (p.Ser4413Pro)
c.13414T>C (p.Ser4472Pro)
c.13402T>C (p.Ser4468Pro)
c.13759T>C (p.Ser4587Pro)
c.13360T>C (p.Ser4454Pro)
c.13348T>C (p.Ser4450Pro)
c.13306T>C (p.Ser4436Pro)
c.13282T>C (p.Ser4428Pro)
c.13252T>C (p.Ser4418Pro)
c.13429T>C (p.Ser4477Pro)
c.13279T>C (p.Ser4427Pro)
c.9979T>C (p.Ser3327Pro)
8g.143916488A>TCA372475626PLECc.13465T>A (p.Ser4489Thr)
c.13384T>A (p.Ser4462Thr)
c.13051T>A (p.Ser4351Thr)
c.13264T>A (p.Ser4422Thr)
c.13333T>A (p.Ser4445Thr)
c.10033T>A (p.Ser3345Thr)
c.13744T>A (p.Ser4582Thr)
c.13267T>A (p.Ser4423Thr)
c.13291T>A (p.Ser4431Thr)
c.13345T>A (p.Ser4449Thr)
c.13237T>A (p.Ser4413Thr)
c.13414T>A (p.Ser4472Thr)
c.13402T>A (p.Ser4468Thr)
c.13759T>A (p.Ser4587Thr)
c.13360T>A (p.Ser4454Thr)
c.13348T>A (p.Ser4450Thr)
c.13306T>A (p.Ser4436Thr)
c.13282T>A (p.Ser4428Thr)
c.13252T>A (p.Ser4418Thr)
c.13429T>A (p.Ser4477Thr)
c.13279T>A (p.Ser4427Thr)
c.9979T>A (p.Ser3327Thr)
8g.143916489G>ACA463525610PLECc.13464C>T (p.Ile4488=)
c.13383C>T (p.Ile4461=)
c.13050C>T (p.Ile4350=)
c.13263C>T (p.Ile4421=)
c.13332C>T (p.Ile4444=)
c.10032C>T (p.Ile3344=)
c.13743C>T (p.Ile4581=)
c.13266C>T (p.Ile4422=)
c.13290C>T (p.Ile4430=)
c.13344C>T (p.Ile4448=)
c.13236C>T (p.Ile4412=)
c.13413C>T (p.Ile4471=)
c.13401C>T (p.Ile4467=)
c.13758C>T (p.Ile4586=)
c.13359C>T (p.Ile4453=)
c.13347C>T (p.Ile4449=)
c.13305C>T (p.Ile4435=)
c.13281C>T (p.Ile4427=)
c.13251C>T (p.Ile4417=)
c.13428C>T (p.Ile4476=)
c.13278C>T (p.Ile4426=)
c.9978C>T (p.Ile3326=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.143916489G>CCA372475627PLECc.13464C>G (p.Ile4488Met)
c.13383C>G (p.Ile4461Met)
c.13050C>G (p.Ile4350Met)
c.13263C>G (p.Ile4421Met)
c.13332C>G (p.Ile4444Met)
c.10032C>G (p.Ile3344Met)
c.13743C>G (p.Ile4581Met)
c.13266C>G (p.Ile4422Met)
c.13290C>G (p.Ile4430Met)
c.13344C>G (p.Ile4448Met)
c.13236C>G (p.Ile4412Met)
c.13413C>G (p.Ile4471Met)
c.13401C>G (p.Ile4467Met)
c.13758C>G (p.Ile4586Met)
c.13359C>G (p.Ile4453Met)
c.13347C>G (p.Ile4449Met)
c.13305C>G (p.Ile4435Met)
c.13281C>G (p.Ile4427Met)
c.13251C>G (p.Ile4417Met)
c.13428C>G (p.Ile4476Met)
c.13278C>G (p.Ile4426Met)
c.9978C>G (p.Ile3326Met)
 dbSNP gnomAD v2 gnomAD v4
8g.143916489G=CA1826037264PLECc.13464C= (p.Ile4488=)
c.13383C= (p.Ile4461=)
c.13050C= (p.Ile4350=)
c.13263C= (p.Ile4421=)
c.13332C= (p.Ile4444=)
c.10032C= (p.Ile3344=)
c.13743C= (p.Ile4581=)
c.13266C= (p.Ile4422=)
c.13290C= (p.Ile4430=)
c.13344C= (p.Ile4448=)
c.13236C= (p.Ile4412=)
c.13413C= (p.Ile4471=)
c.13401C= (p.Ile4467=)
c.13758C= (p.Ile4586=)
c.13359C= (p.Ile4453=)
c.13347C= (p.Ile4449=)
c.13305C= (p.Ile4435=)
c.13281C= (p.Ile4427=)
c.13251C= (p.Ile4417=)
c.13428C= (p.Ile4476=)
c.13278C= (p.Ile4426=)
c.9978C= (p.Ile3326=)
8g.143916489G>TCA463525612PLECc.13464C>A (p.Ile4488=)
c.13383C>A (p.Ile4461=)
c.13050C>A (p.Ile4350=)
c.13263C>A (p.Ile4421=)
c.13332C>A (p.Ile4444=)
c.10032C>A (p.Ile3344=)
c.13743C>A (p.Ile4581=)
c.13266C>A (p.Ile4422=)
c.13290C>A (p.Ile4430=)
c.13344C>A (p.Ile4448=)
c.13236C>A (p.Ile4412=)
c.13413C>A (p.Ile4471=)
c.13401C>A (p.Ile4467=)
c.13758C>A (p.Ile4586=)
c.13359C>A (p.Ile4453=)
c.13347C>A (p.Ile4449=)
c.13305C>A (p.Ile4435=)
c.13281C>A (p.Ile4427=)
c.13251C>A (p.Ile4417=)
c.13428C>A (p.Ile4476=)
c.13278C>A (p.Ile4426=)
c.9978C>A (p.Ile3326=)
 gnomAD v4
8g.143916490A>CCA372475628PLECc.13463T>G (p.Ile4488Ser)
c.13382T>G (p.Ile4461Ser)
c.13049T>G (p.Ile4350Ser)
c.13262T>G (p.Ile4421Ser)
c.13331T>G (p.Ile4444Ser)
c.10031T>G (p.Ile3344Ser)
c.13742T>G (p.Ile4581Ser)
c.13265T>G (p.Ile4422Ser)
c.13289T>G (p.Ile4430Ser)
c.13343T>G (p.Ile4448Ser)
c.13235T>G (p.Ile4412Ser)
c.13412T>G (p.Ile4471Ser)
c.13400T>G (p.Ile4467Ser)
c.13757T>G (p.Ile4586Ser)
c.13358T>G (p.Ile4453Ser)
c.13346T>G (p.Ile4449Ser)
c.13304T>G (p.Ile4435Ser)
c.13280T>G (p.Ile4427Ser)
c.13250T>G (p.Ile4417Ser)
c.13427T>G (p.Ile4476Ser)
c.13277T>G (p.Ile4426Ser)
c.9977T>G (p.Ile3326Ser)
8g.143916490A>GCA372475630PLECc.13463T>C (p.Ile4488Thr)
c.13382T>C (p.Ile4461Thr)
c.13049T>C (p.Ile4350Thr)
c.13262T>C (p.Ile4421Thr)
c.13331T>C (p.Ile4444Thr)
c.10031T>C (p.Ile3344Thr)
c.13742T>C (p.Ile4581Thr)
c.13265T>C (p.Ile4422Thr)
c.13289T>C (p.Ile4430Thr)
c.13343T>C (p.Ile4448Thr)
c.13235T>C (p.Ile4412Thr)
c.13412T>C (p.Ile4471Thr)
c.13400T>C (p.Ile4467Thr)
c.13757T>C (p.Ile4586Thr)
c.13358T>C (p.Ile4453Thr)
c.13346T>C (p.Ile4449Thr)
c.13304T>C (p.Ile4435Thr)
c.13280T>C (p.Ile4427Thr)
c.13250T>C (p.Ile4417Thr)
c.13427T>C (p.Ile4476Thr)
c.13277T>C (p.Ile4426Thr)
c.9977T>C (p.Ile3326Thr)
8g.143916490A>TCA372475629PLECc.13463T>A (p.Ile4488Asn)
c.13382T>A (p.Ile4461Asn)
c.13049T>A (p.Ile4350Asn)
c.13262T>A (p.Ile4421Asn)
c.13331T>A (p.Ile4444Asn)
c.10031T>A (p.Ile3344Asn)
c.13742T>A (p.Ile4581Asn)
c.13265T>A (p.Ile4422Asn)
c.13289T>A (p.Ile4430Asn)
c.13343T>A (p.Ile4448Asn)
c.13235T>A (p.Ile4412Asn)
c.13412T>A (p.Ile4471Asn)
c.13400T>A (p.Ile4467Asn)
c.13757T>A (p.Ile4586Asn)
c.13358T>A (p.Ile4453Asn)
c.13346T>A (p.Ile4449Asn)
c.13304T>A (p.Ile4435Asn)
c.13280T>A (p.Ile4427Asn)
c.13250T>A (p.Ile4417Asn)
c.13427T>A (p.Ile4476Asn)
c.13277T>A (p.Ile4426Asn)
c.9977T>A (p.Ile3326Asn)
8g.143916491T>ACA372475631PLECc.13462A>T (p.Ile4488Phe)
c.13381A>T (p.Ile4461Phe)
c.13048A>T (p.Ile4350Phe)
c.13261A>T (p.Ile4421Phe)
c.13330A>T (p.Ile4444Phe)
c.10030A>T (p.Ile3344Phe)
c.13741A>T (p.Ile4581Phe)
c.13264A>T (p.Ile4422Phe)
c.13288A>T (p.Ile4430Phe)
c.13342A>T (p.Ile4448Phe)
c.13234A>T (p.Ile4412Phe)
c.13411A>T (p.Ile4471Phe)
c.13399A>T (p.Ile4467Phe)
c.13756A>T (p.Ile4586Phe)
c.13357A>T (p.Ile4453Phe)
c.13345A>T (p.Ile4449Phe)
c.13303A>T (p.Ile4435Phe)
c.13279A>T (p.Ile4427Phe)
c.13249A>T (p.Ile4417Phe)
c.13426A>T (p.Ile4476Phe)
c.13276A>T (p.Ile4426Phe)
c.9976A>T (p.Ile3326Phe)
8g.143916491T>CCA4923839PLECc.13462A>G (p.Ile4488Val)
c.13381A>G (p.Ile4461Val)
c.13048A>G (p.Ile4350Val)
c.13261A>G (p.Ile4421Val)
c.13330A>G (p.Ile4444Val)
c.10030A>G (p.Ile3344Val)
c.13741A>G (p.Ile4581Val)
c.13264A>G (p.Ile4422Val)
c.13288A>G (p.Ile4430Val)
c.13342A>G (p.Ile4448Val)
c.13234A>G (p.Ile4412Val)
c.13411A>G (p.Ile4471Val)
c.13399A>G (p.Ile4467Val)
c.13756A>G (p.Ile4586Val)
c.13357A>G (p.Ile4453Val)
c.13345A>G (p.Ile4449Val)
c.13303A>G (p.Ile4435Val)
c.13279A>G (p.Ile4427Val)
c.13249A>G (p.Ile4417Val)
c.13426A>G (p.Ile4476Val)
c.13276A>G (p.Ile4426Val)
c.9976A>G (p.Ile3326Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916491T>GCA372475632PLECc.13462A>C (p.Ile4488Leu)
c.13381A>C (p.Ile4461Leu)
c.13048A>C (p.Ile4350Leu)
c.13261A>C (p.Ile4421Leu)
c.13330A>C (p.Ile4444Leu)
c.10030A>C (p.Ile3344Leu)
c.13741A>C (p.Ile4581Leu)
c.13264A>C (p.Ile4422Leu)
c.13288A>C (p.Ile4430Leu)
c.13342A>C (p.Ile4448Leu)
c.13234A>C (p.Ile4412Leu)
c.13411A>C (p.Ile4471Leu)
c.13399A>C (p.Ile4467Leu)
c.13756A>C (p.Ile4586Leu)
c.13357A>C (p.Ile4453Leu)
c.13345A>C (p.Ile4449Leu)
c.13303A>C (p.Ile4435Leu)
c.13279A>C (p.Ile4427Leu)
c.13249A>C (p.Ile4417Leu)
c.13426A>C (p.Ile4476Leu)
c.13276A>C (p.Ile4426Leu)
c.9976A>C (p.Ile3326Leu)
8g.143916491T=CA1826037266PLECc.13462A= (p.Ile4488=)
c.13381A= (p.Ile4461=)
c.13048A= (p.Ile4350=)
c.13261A= (p.Ile4421=)
c.13330A= (p.Ile4444=)
c.10030A= (p.Ile3344=)
c.13741A= (p.Ile4581=)
c.13264A= (p.Ile4422=)
c.13288A= (p.Ile4430=)
c.13342A= (p.Ile4448=)
c.13234A= (p.Ile4412=)
c.13411A= (p.Ile4471=)
c.13399A= (p.Ile4467=)
c.13756A= (p.Ile4586=)
c.13357A= (p.Ile4453=)
c.13345A= (p.Ile4449=)
c.13303A= (p.Ile4435=)
c.13279A= (p.Ile4427=)
c.13249A= (p.Ile4417=)
c.13426A= (p.Ile4476=)
c.13276A= (p.Ile4426=)
c.9976A= (p.Ile3326=)
8g.143916492C>ACA372475633PLECc.13461G>T (p.Lys4487Asn)
c.13380G>T (p.Lys4460Asn)
c.13047G>T (p.Lys4349Asn)
c.13260G>T (p.Lys4420Asn)
c.13329G>T (p.Lys4443Asn)
c.10029G>T (p.Lys3343Asn)
c.13740G>T (p.Lys4580Asn)
c.13263G>T (p.Lys4421Asn)
c.13287G>T (p.Lys4429Asn)
c.13341G>T (p.Lys4447Asn)
c.13233G>T (p.Lys4411Asn)
c.13410G>T (p.Lys4470Asn)
c.13398G>T (p.Lys4466Asn)
c.13755G>T (p.Lys4585Asn)
c.13356G>T (p.Lys4452Asn)
c.13344G>T (p.Lys4448Asn)
c.13302G>T (p.Lys4434Asn)
c.13278G>T (p.Lys4426Asn)
c.13248G>T (p.Lys4416Asn)
c.13425G>T (p.Lys4475Asn)
c.13275G>T (p.Lys4425Asn)
c.9975G>T (p.Lys3325Asn)
8g.143916492C=CA1826037269PLECc.13461G= (p.Lys4487=)
c.13380G= (p.Lys4460=)
c.13047G= (p.Lys4349=)
c.13260G= (p.Lys4420=)
c.13329G= (p.Lys4443=)
c.10029G= (p.Lys3343=)
c.13740G= (p.Lys4580=)
c.13263G= (p.Lys4421=)
c.13287G= (p.Lys4429=)
c.13341G= (p.Lys4447=)
c.13233G= (p.Lys4411=)
c.13410G= (p.Lys4470=)
c.13398G= (p.Lys4466=)
c.13755G= (p.Lys4585=)
c.13356G= (p.Lys4452=)
c.13344G= (p.Lys4448=)
c.13302G= (p.Lys4434=)
c.13278G= (p.Lys4426=)
c.13248G= (p.Lys4416=)
c.13425G= (p.Lys4475=)
c.13275G= (p.Lys4425=)
c.9975G= (p.Lys3325=)
8g.143916492C>GCA372475634PLECc.13461G>C (p.Lys4487Asn)
c.13380G>C (p.Lys4460Asn)
c.13047G>C (p.Lys4349Asn)
c.13260G>C (p.Lys4420Asn)
c.13329G>C (p.Lys4443Asn)
c.10029G>C (p.Lys3343Asn)
c.13740G>C (p.Lys4580Asn)
c.13263G>C (p.Lys4421Asn)
c.13287G>C (p.Lys4429Asn)
c.13341G>C (p.Lys4447Asn)
c.13233G>C (p.Lys4411Asn)
c.13410G>C (p.Lys4470Asn)
c.13398G>C (p.Lys4466Asn)
c.13755G>C (p.Lys4585Asn)
c.13356G>C (p.Lys4452Asn)
c.13344G>C (p.Lys4448Asn)
c.13302G>C (p.Lys4434Asn)
c.13278G>C (p.Lys4426Asn)
c.13248G>C (p.Lys4416Asn)
c.13425G>C (p.Lys4475Asn)
c.13275G>C (p.Lys4425Asn)
c.9975G>C (p.Lys3325Asn)
 dbSNP gnomAD v3 gnomAD v4
8g.143916492C>TCA463525613PLECc.13461G>A (p.Lys4487=)
c.13380G>A (p.Lys4460=)
c.13047G>A (p.Lys4349=)
c.13260G>A (p.Lys4420=)
c.13329G>A (p.Lys4443=)
c.10029G>A (p.Lys3343=)
c.13740G>A (p.Lys4580=)
c.13263G>A (p.Lys4421=)
c.13287G>A (p.Lys4429=)
c.13341G>A (p.Lys4447=)
c.13233G>A (p.Lys4411=)
c.13410G>A (p.Lys4470=)
c.13398G>A (p.Lys4466=)
c.13755G>A (p.Lys4585=)
c.13356G>A (p.Lys4452=)
c.13344G>A (p.Lys4448=)
c.13302G>A (p.Lys4434=)
c.13278G>A (p.Lys4426=)
c.13248G>A (p.Lys4416=)
c.13425G>A (p.Lys4475=)
c.13275G>A (p.Lys4425=)
c.9975G>A (p.Lys3325=)
 ClinVar dbSNP
8g.143916493T>ACA372475635PLECc.13460A>T (p.Lys4487Met)
c.13379A>T (p.Lys4460Met)
c.13046A>T (p.Lys4349Met)
c.13259A>T (p.Lys4420Met)
c.13328A>T (p.Lys4443Met)
c.10028A>T (p.Lys3343Met)
c.13739A>T (p.Lys4580Met)
c.13262A>T (p.Lys4421Met)
c.13286A>T (p.Lys4429Met)
c.13340A>T (p.Lys4447Met)
c.13232A>T (p.Lys4411Met)
c.13409A>T (p.Lys4470Met)
c.13397A>T (p.Lys4466Met)
c.13754A>T (p.Lys4585Met)
c.13355A>T (p.Lys4452Met)
c.13343A>T (p.Lys4448Met)
c.13301A>T (p.Lys4434Met)
c.13277A>T (p.Lys4426Met)
c.13247A>T (p.Lys4416Met)
c.13424A>T (p.Lys4475Met)
c.13274A>T (p.Lys4425Met)
c.9974A>T (p.Lys3325Met)
8g.143916493T>CCA372475636PLECc.13460A>G (p.Lys4487Arg)
c.13379A>G (p.Lys4460Arg)
c.13046A>G (p.Lys4349Arg)
c.13259A>G (p.Lys4420Arg)
c.13328A>G (p.Lys4443Arg)
c.10028A>G (p.Lys3343Arg)
c.13739A>G (p.Lys4580Arg)
c.13262A>G (p.Lys4421Arg)
c.13286A>G (p.Lys4429Arg)
c.13340A>G (p.Lys4447Arg)
c.13232A>G (p.Lys4411Arg)
c.13409A>G (p.Lys4470Arg)
c.13397A>G (p.Lys4466Arg)
c.13754A>G (p.Lys4585Arg)
c.13355A>G (p.Lys4452Arg)
c.13343A>G (p.Lys4448Arg)
c.13301A>G (p.Lys4434Arg)
c.13277A>G (p.Lys4426Arg)
c.13247A>G (p.Lys4416Arg)
c.13424A>G (p.Lys4475Arg)
c.13274A>G (p.Lys4425Arg)
c.9974A>G (p.Lys3325Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.143916493T>GCA372475637PLECc.13460A>C (p.Lys4487Thr)
c.13379A>C (p.Lys4460Thr)
c.13046A>C (p.Lys4349Thr)
c.13259A>C (p.Lys4420Thr)
c.13328A>C (p.Lys4443Thr)
c.10028A>C (p.Lys3343Thr)
c.13739A>C (p.Lys4580Thr)
c.13262A>C (p.Lys4421Thr)
c.13286A>C (p.Lys4429Thr)
c.13340A>C (p.Lys4447Thr)
c.13232A>C (p.Lys4411Thr)
c.13409A>C (p.Lys4470Thr)
c.13397A>C (p.Lys4466Thr)
c.13754A>C (p.Lys4585Thr)
c.13355A>C (p.Lys4452Thr)
c.13343A>C (p.Lys4448Thr)
c.13301A>C (p.Lys4434Thr)
c.13277A>C (p.Lys4426Thr)
c.13247A>C (p.Lys4416Thr)
c.13424A>C (p.Lys4475Thr)
c.13274A>C (p.Lys4425Thr)
c.9974A>C (p.Lys3325Thr)
8g.143916493T=CA1826037271PLECc.13460A= (p.Lys4487=)
c.13379A= (p.Lys4460=)
c.13046A= (p.Lys4349=)
c.13259A= (p.Lys4420=)
c.13328A= (p.Lys4443=)
c.10028A= (p.Lys3343=)
c.13739A= (p.Lys4580=)
c.13262A= (p.Lys4421=)
c.13286A= (p.Lys4429=)
c.13340A= (p.Lys4447=)
c.13232A= (p.Lys4411=)
c.13409A= (p.Lys4470=)
c.13397A= (p.Lys4466=)
c.13754A= (p.Lys4585=)
c.13355A= (p.Lys4452=)
c.13343A= (p.Lys4448=)
c.13301A= (p.Lys4434=)
c.13277A= (p.Lys4426=)
c.13247A= (p.Lys4416=)
c.13424A= (p.Lys4475=)
c.13274A= (p.Lys4425=)
c.9974A= (p.Lys3325=)
8g.143916494T>ACA372475638PLECc.13459A>T (p.Lys4487Ter)
c.13378A>T (p.Lys4460Ter)
c.13045A>T (p.Lys4349Ter)
c.13258A>T (p.Lys4420Ter)
c.13327A>T (p.Lys4443Ter)
c.10027A>T (p.Lys3343Ter)
c.13738A>T (p.Lys4580Ter)
c.13261A>T (p.Lys4421Ter)
c.13285A>T (p.Lys4429Ter)
c.13339A>T (p.Lys4447Ter)
c.13231A>T (p.Lys4411Ter)
c.13408A>T (p.Lys4470Ter)
c.13396A>T (p.Lys4466Ter)
c.13753A>T (p.Lys4585Ter)
c.13354A>T (p.Lys4452Ter)
c.13342A>T (p.Lys4448Ter)
c.13300A>T (p.Lys4434Ter)
c.13276A>T (p.Lys4426Ter)
c.13246A>T (p.Lys4416Ter)
c.13423A>T (p.Lys4475Ter)
c.13273A>T (p.Lys4425Ter)
c.9973A>T (p.Lys3325Ter)
8g.143916494T>CCA372475639PLECc.13459A>G (p.Lys4487Glu)
c.13378A>G (p.Lys4460Glu)
c.13045A>G (p.Lys4349Glu)
c.13258A>G (p.Lys4420Glu)
c.13327A>G (p.Lys4443Glu)
c.10027A>G (p.Lys3343Glu)
c.13738A>G (p.Lys4580Glu)
c.13261A>G (p.Lys4421Glu)
c.13285A>G (p.Lys4429Glu)
c.13339A>G (p.Lys4447Glu)
c.13231A>G (p.Lys4411Glu)
c.13408A>G (p.Lys4470Glu)
c.13396A>G (p.Lys4466Glu)
c.13753A>G (p.Lys4585Glu)
c.13354A>G (p.Lys4452Glu)
c.13342A>G (p.Lys4448Glu)
c.13300A>G (p.Lys4434Glu)
c.13276A>G (p.Lys4426Glu)
c.13246A>G (p.Lys4416Glu)
c.13423A>G (p.Lys4475Glu)
c.13273A>G (p.Lys4425Glu)
c.9973A>G (p.Lys3325Glu)
 dbSNP
8g.143916494T>GCA372475640PLECc.13459A>C (p.Lys4487Gln)
c.13378A>C (p.Lys4460Gln)
c.13045A>C (p.Lys4349Gln)
c.13258A>C (p.Lys4420Gln)
c.13327A>C (p.Lys4443Gln)
c.10027A>C (p.Lys3343Gln)
c.13738A>C (p.Lys4580Gln)
c.13261A>C (p.Lys4421Gln)
c.13285A>C (p.Lys4429Gln)
c.13339A>C (p.Lys4447Gln)
c.13231A>C (p.Lys4411Gln)
c.13408A>C (p.Lys4470Gln)
c.13396A>C (p.Lys4466Gln)
c.13753A>C (p.Lys4585Gln)
c.13354A>C (p.Lys4452Gln)
c.13342A>C (p.Lys4448Gln)
c.13300A>C (p.Lys4434Gln)
c.13276A>C (p.Lys4426Gln)
c.13246A>C (p.Lys4416Gln)
c.13423A>C (p.Lys4475Gln)
c.13273A>C (p.Lys4425Gln)
c.9973A>C (p.Lys3325Gln)
 gnomAD v4
8g.143916494T=CA1826037272PLECc.13459A= (p.Lys4487=)
c.13378A= (p.Lys4460=)
c.13045A= (p.Lys4349=)
c.13258A= (p.Lys4420=)
c.13327A= (p.Lys4443=)
c.10027A= (p.Lys3343=)
c.13738A= (p.Lys4580=)
c.13261A= (p.Lys4421=)
c.13285A= (p.Lys4429=)
c.13339A= (p.Lys4447=)
c.13231A= (p.Lys4411=)
c.13408A= (p.Lys4470=)
c.13396A= (p.Lys4466=)
c.13753A= (p.Lys4585=)
c.13354A= (p.Lys4452=)
c.13342A= (p.Lys4448=)
c.13300A= (p.Lys4434=)
c.13276A= (p.Lys4426=)
c.13246A= (p.Lys4416=)
c.13423A= (p.Lys4475=)
c.13273A= (p.Lys4425=)
c.9973A= (p.Lys3325=)
8g.143916495G>ACA463525619PLECc.13458C>T (p.Leu4486=)
c.13377C>T (p.Leu4459=)
c.13044C>T (p.Leu4348=)
c.13257C>T (p.Leu4419=)
c.13326C>T (p.Leu4442=)
c.10026C>T (p.Leu3342=)
c.13737C>T (p.Leu4579=)
c.13260C>T (p.Leu4420=)
c.13284C>T (p.Leu4428=)
c.13338C>T (p.Leu4446=)
c.13230C>T (p.Leu4410=)
c.13407C>T (p.Leu4469=)
c.13395C>T (p.Leu4465=)
c.13752C>T (p.Leu4584=)
c.13353C>T (p.Leu4451=)
c.13341C>T (p.Leu4447=)
c.13299C>T (p.Leu4433=)
c.13275C>T (p.Leu4425=)
c.13245C>T (p.Leu4415=)
c.13422C>T (p.Leu4474=)
c.13272C>T (p.Leu4424=)
c.9972C>T (p.Leu3324=)
 gnomAD v4
8g.143916495G>CCA463525616PLECc.13458C>G (p.Leu4486=)
c.13377C>G (p.Leu4459=)
c.13044C>G (p.Leu4348=)
c.13257C>G (p.Leu4419=)
c.13326C>G (p.Leu4442=)
c.10026C>G (p.Leu3342=)
c.13737C>G (p.Leu4579=)
c.13260C>G (p.Leu4420=)
c.13284C>G (p.Leu4428=)
c.13338C>G (p.Leu4446=)
c.13230C>G (p.Leu4410=)
c.13407C>G (p.Leu4469=)
c.13395C>G (p.Leu4465=)
c.13752C>G (p.Leu4584=)
c.13353C>G (p.Leu4451=)
c.13341C>G (p.Leu4447=)
c.13299C>G (p.Leu4433=)
c.13275C>G (p.Leu4425=)
c.13245C>G (p.Leu4415=)
c.13422C>G (p.Leu4474=)
c.13272C>G (p.Leu4424=)
c.9972C>G (p.Leu3324=)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916495G>TCA463525618PLECc.13458C>A (p.Leu4486=)
c.13377C>A (p.Leu4459=)
c.13044C>A (p.Leu4348=)
c.13257C>A (p.Leu4419=)
c.13326C>A (p.Leu4442=)
c.10026C>A (p.Leu3342=)
c.13737C>A (p.Leu4579=)
c.13260C>A (p.Leu4420=)
c.13284C>A (p.Leu4428=)
c.13338C>A (p.Leu4446=)
c.13230C>A (p.Leu4410=)
c.13407C>A (p.Leu4469=)
c.13395C>A (p.Leu4465=)
c.13752C>A (p.Leu4584=)
c.13353C>A (p.Leu4451=)
c.13341C>A (p.Leu4447=)
c.13299C>A (p.Leu4433=)
c.13275C>A (p.Leu4425=)
c.13245C>A (p.Leu4415=)
c.13422C>A (p.Leu4474=)
c.13272C>A (p.Leu4424=)
c.9972C>A (p.Leu3324=)
8g.143916496A>CCA372475643PLECc.13457T>G (p.Leu4486Arg)
c.13376T>G (p.Leu4459Arg)
c.13043T>G (p.Leu4348Arg)
c.13256T>G (p.Leu4419Arg)
c.13325T>G (p.Leu4442Arg)
c.10025T>G (p.Leu3342Arg)
c.13736T>G (p.Leu4579Arg)
c.13259T>G (p.Leu4420Arg)
c.13283T>G (p.Leu4428Arg)
c.13337T>G (p.Leu4446Arg)
c.13229T>G (p.Leu4410Arg)
c.13406T>G (p.Leu4469Arg)
c.13394T>G (p.Leu4465Arg)
c.13751T>G (p.Leu4584Arg)
c.13352T>G (p.Leu4451Arg)
c.13340T>G (p.Leu4447Arg)
c.13298T>G (p.Leu4433Arg)
c.13274T>G (p.Leu4425Arg)
c.13244T>G (p.Leu4415Arg)
c.13421T>G (p.Leu4474Arg)
c.13271T>G (p.Leu4424Arg)
c.9971T>G (p.Leu3324Arg)
8g.143916496A>GCA372475642PLECc.13457T>C (p.Leu4486Pro)
c.13376T>C (p.Leu4459Pro)
c.13043T>C (p.Leu4348Pro)
c.13256T>C (p.Leu4419Pro)
c.13325T>C (p.Leu4442Pro)
c.10025T>C (p.Leu3342Pro)
c.13736T>C (p.Leu4579Pro)
c.13259T>C (p.Leu4420Pro)
c.13283T>C (p.Leu4428Pro)
c.13337T>C (p.Leu4446Pro)
c.13229T>C (p.Leu4410Pro)
c.13406T>C (p.Leu4469Pro)
c.13394T>C (p.Leu4465Pro)
c.13751T>C (p.Leu4584Pro)
c.13352T>C (p.Leu4451Pro)
c.13340T>C (p.Leu4447Pro)
c.13298T>C (p.Leu4433Pro)
c.13274T>C (p.Leu4425Pro)
c.13244T>C (p.Leu4415Pro)
c.13421T>C (p.Leu4474Pro)
c.13271T>C (p.Leu4424Pro)
c.9971T>C (p.Leu3324Pro)
8g.143916496A>TCA372475641PLECc.13457T>A (p.Leu4486His)
c.13376T>A (p.Leu4459His)
c.13043T>A (p.Leu4348His)
c.13256T>A (p.Leu4419His)
c.13325T>A (p.Leu4442His)
c.10025T>A (p.Leu3342His)
c.13736T>A (p.Leu4579His)
c.13259T>A (p.Leu4420His)
c.13283T>A (p.Leu4428His)
c.13337T>A (p.Leu4446His)
c.13229T>A (p.Leu4410His)
c.13406T>A (p.Leu4469His)
c.13394T>A (p.Leu4465His)
c.13751T>A (p.Leu4584His)
c.13352T>A (p.Leu4451His)
c.13340T>A (p.Leu4447His)
c.13298T>A (p.Leu4433His)
c.13274T>A (p.Leu4425His)
c.13244T>A (p.Leu4415His)
c.13421T>A (p.Leu4474His)
c.13271T>A (p.Leu4424His)
c.9971T>A (p.Leu3324His)
8g.143916497G>ACA4923840PLECc.13456C>T (p.Leu4486Phe)
c.13375C>T (p.Leu4459Phe)
c.13042C>T (p.Leu4348Phe)
c.13255C>T (p.Leu4419Phe)
c.13324C>T (p.Leu4442Phe)
c.10024C>T (p.Leu3342Phe)
c.13735C>T (p.Leu4579Phe)
c.13258C>T (p.Leu4420Phe)
c.13282C>T (p.Leu4428Phe)
c.13336C>T (p.Leu4446Phe)
c.13228C>T (p.Leu4410Phe)
c.13405C>T (p.Leu4469Phe)
c.13393C>T (p.Leu4465Phe)
c.13750C>T (p.Leu4584Phe)
c.13351C>T (p.Leu4451Phe)
c.13339C>T (p.Leu4447Phe)
c.13297C>T (p.Leu4433Phe)
c.13273C>T (p.Leu4425Phe)
c.13243C>T (p.Leu4415Phe)
c.13420C>T (p.Leu4474Phe)
c.13270C>T (p.Leu4424Phe)
c.9970C>T (p.Leu3324Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916497G>CCA372475644PLECc.13456C>G (p.Leu4486Val)
c.13375C>G (p.Leu4459Val)
c.13042C>G (p.Leu4348Val)
c.13255C>G (p.Leu4419Val)
c.13324C>G (p.Leu4442Val)
c.10024C>G (p.Leu3342Val)
c.13735C>G (p.Leu4579Val)
c.13258C>G (p.Leu4420Val)
c.13282C>G (p.Leu4428Val)
c.13336C>G (p.Leu4446Val)
c.13228C>G (p.Leu4410Val)
c.13405C>G (p.Leu4469Val)
c.13393C>G (p.Leu4465Val)
c.13750C>G (p.Leu4584Val)
c.13351C>G (p.Leu4451Val)
c.13339C>G (p.Leu4447Val)
c.13297C>G (p.Leu4433Val)
c.13273C>G (p.Leu4425Val)
c.13243C>G (p.Leu4415Val)
c.13420C>G (p.Leu4474Val)
c.13270C>G (p.Leu4424Val)
c.9970C>G (p.Leu3324Val)
8g.143916497G=CA1826037274PLECc.13456C= (p.Leu4486=)
c.13375C= (p.Leu4459=)
c.13042C= (p.Leu4348=)
c.13255C= (p.Leu4419=)
c.13324C= (p.Leu4442=)
c.10024C= (p.Leu3342=)
c.13735C= (p.Leu4579=)
c.13258C= (p.Leu4420=)
c.13282C= (p.Leu4428=)
c.13336C= (p.Leu4446=)
c.13228C= (p.Leu4410=)
c.13405C= (p.Leu4469=)
c.13393C= (p.Leu4465=)
c.13750C= (p.Leu4584=)
c.13351C= (p.Leu4451=)
c.13339C= (p.Leu4447=)
c.13297C= (p.Leu4433=)
c.13273C= (p.Leu4425=)
c.13243C= (p.Leu4415=)
c.13420C= (p.Leu4474=)
c.13270C= (p.Leu4424=)
c.9970C= (p.Leu3324=)
8g.143916497G>TCA372475645PLECc.13456C>A (p.Leu4486Ile)
c.13375C>A (p.Leu4459Ile)
c.13042C>A (p.Leu4348Ile)
c.13255C>A (p.Leu4419Ile)
c.13324C>A (p.Leu4442Ile)
c.10024C>A (p.Leu3342Ile)
c.13735C>A (p.Leu4579Ile)
c.13258C>A (p.Leu4420Ile)
c.13282C>A (p.Leu4428Ile)
c.13336C>A (p.Leu4446Ile)
c.13228C>A (p.Leu4410Ile)
c.13405C>A (p.Leu4469Ile)
c.13393C>A (p.Leu4465Ile)
c.13750C>A (p.Leu4584Ile)
c.13351C>A (p.Leu4451Ile)
c.13339C>A (p.Leu4447Ile)
c.13297C>A (p.Leu4433Ile)
c.13273C>A (p.Leu4425Ile)
c.13243C>A (p.Leu4415Ile)
c.13420C>A (p.Leu4474Ile)
c.13270C>A (p.Leu4424Ile)
c.9970C>A (p.Leu3324Ile)
8g.143916498C>ACA372475646PLECc.13455G>T (p.Lys4485Asn)
c.13374G>T (p.Lys4458Asn)
c.13041G>T (p.Lys4347Asn)
c.13254G>T (p.Lys4418Asn)
c.13323G>T (p.Lys4441Asn)
c.10023G>T (p.Lys3341Asn)
c.13734G>T (p.Lys4578Asn)
c.13257G>T (p.Lys4419Asn)
c.13281G>T (p.Lys4427Asn)
c.13335G>T (p.Lys4445Asn)
c.13227G>T (p.Lys4409Asn)
c.13404G>T (p.Lys4468Asn)
c.13392G>T (p.Lys4464Asn)
c.13749G>T (p.Lys4583Asn)
c.13350G>T (p.Lys4450Asn)
c.13338G>T (p.Lys4446Asn)
c.13296G>T (p.Lys4432Asn)
c.13272G>T (p.Lys4424Asn)
c.13242G>T (p.Lys4414Asn)
c.13419G>T (p.Lys4473Asn)
c.13269G>T (p.Lys4423Asn)
c.9969G>T (p.Lys3323Asn)
8g.143916498C=CA1826037276PLECc.13455G= (p.Lys4485=)
c.13374G= (p.Lys4458=)
c.13041G= (p.Lys4347=)
c.13254G= (p.Lys4418=)
c.13323G= (p.Lys4441=)
c.10023G= (p.Lys3341=)
c.13734G= (p.Lys4578=)
c.13257G= (p.Lys4419=)
c.13281G= (p.Lys4427=)
c.13335G= (p.Lys4445=)
c.13227G= (p.Lys4409=)
c.13404G= (p.Lys4468=)
c.13392G= (p.Lys4464=)
c.13749G= (p.Lys4583=)
c.13350G= (p.Lys4450=)
c.13338G= (p.Lys4446=)
c.13296G= (p.Lys4432=)
c.13272G= (p.Lys4424=)
c.13242G= (p.Lys4414=)
c.13419G= (p.Lys4473=)
c.13269G= (p.Lys4423=)
c.9969G= (p.Lys3323=)
8g.143916498C>GCA372475647PLECc.13455G>C (p.Lys4485Asn)
c.13374G>C (p.Lys4458Asn)
c.13041G>C (p.Lys4347Asn)
c.13254G>C (p.Lys4418Asn)
c.13323G>C (p.Lys4441Asn)
c.10023G>C (p.Lys3341Asn)
c.13734G>C (p.Lys4578Asn)
c.13257G>C (p.Lys4419Asn)
c.13281G>C (p.Lys4427Asn)
c.13335G>C (p.Lys4445Asn)
c.13227G>C (p.Lys4409Asn)
c.13404G>C (p.Lys4468Asn)
c.13392G>C (p.Lys4464Asn)
c.13749G>C (p.Lys4583Asn)
c.13350G>C (p.Lys4450Asn)
c.13338G>C (p.Lys4446Asn)
c.13296G>C (p.Lys4432Asn)
c.13272G>C (p.Lys4424Asn)
c.13242G>C (p.Lys4414Asn)
c.13419G>C (p.Lys4473Asn)
c.13269G>C (p.Lys4423Asn)
c.9969G>C (p.Lys3323Asn)
 ClinVar gnomAD v4
8g.143916498C>TCA463525623PLECc.13455G>A (p.Lys4485=)
c.13374G>A (p.Lys4458=)
c.13041G>A (p.Lys4347=)
c.13254G>A (p.Lys4418=)
c.13323G>A (p.Lys4441=)
c.10023G>A (p.Lys3341=)
c.13734G>A (p.Lys4578=)
c.13257G>A (p.Lys4419=)
c.13281G>A (p.Lys4427=)
c.13335G>A (p.Lys4445=)
c.13227G>A (p.Lys4409=)
c.13404G>A (p.Lys4468=)
c.13392G>A (p.Lys4464=)
c.13749G>A (p.Lys4583=)
c.13350G>A (p.Lys4450=)
c.13338G>A (p.Lys4446=)
c.13296G>A (p.Lys4432=)
c.13272G>A (p.Lys4424=)
c.13242G>A (p.Lys4414=)
c.13419G>A (p.Lys4473=)
c.13269G>A (p.Lys4423=)
c.9969G>A (p.Lys3323=)
 dbSNP gnomAD v2 gnomAD v4
8g.143916499T>ACA372475648PLECc.13454A>T (p.Lys4485Met)
c.13373A>T (p.Lys4458Met)
c.13040A>T (p.Lys4347Met)
c.13253A>T (p.Lys4418Met)
c.13322A>T (p.Lys4441Met)
c.10022A>T (p.Lys3341Met)
c.13733A>T (p.Lys4578Met)
c.13256A>T (p.Lys4419Met)
c.13280A>T (p.Lys4427Met)
c.13334A>T (p.Lys4445Met)
c.13226A>T (p.Lys4409Met)
c.13403A>T (p.Lys4468Met)
c.13391A>T (p.Lys4464Met)
c.13748A>T (p.Lys4583Met)
c.13349A>T (p.Lys4450Met)
c.13337A>T (p.Lys4446Met)
c.13295A>T (p.Lys4432Met)
c.13271A>T (p.Lys4424Met)
c.13241A>T (p.Lys4414Met)
c.13418A>T (p.Lys4473Met)
c.13268A>T (p.Lys4423Met)
c.9968A>T (p.Lys3323Met)
8g.143916499T>CCA372475649PLECc.13454A>G (p.Lys4485Arg)
c.13373A>G (p.Lys4458Arg)
c.13040A>G (p.Lys4347Arg)
c.13253A>G (p.Lys4418Arg)
c.13322A>G (p.Lys4441Arg)
c.10022A>G (p.Lys3341Arg)
c.13733A>G (p.Lys4578Arg)
c.13256A>G (p.Lys4419Arg)
c.13280A>G (p.Lys4427Arg)
c.13334A>G (p.Lys4445Arg)
c.13226A>G (p.Lys4409Arg)
c.13403A>G (p.Lys4468Arg)
c.13391A>G (p.Lys4464Arg)
c.13748A>G (p.Lys4583Arg)
c.13349A>G (p.Lys4450Arg)
c.13337A>G (p.Lys4446Arg)
c.13295A>G (p.Lys4432Arg)
c.13271A>G (p.Lys4424Arg)
c.13241A>G (p.Lys4414Arg)
c.13418A>G (p.Lys4473Arg)
c.13268A>G (p.Lys4423Arg)
c.9968A>G (p.Lys3323Arg)
8g.143916499T>GCA372475650PLECc.13454A>C (p.Lys4485Thr)
c.13373A>C (p.Lys4458Thr)
c.13040A>C (p.Lys4347Thr)
c.13253A>C (p.Lys4418Thr)
c.13322A>C (p.Lys4441Thr)
c.10022A>C (p.Lys3341Thr)
c.13733A>C (p.Lys4578Thr)
c.13256A>C (p.Lys4419Thr)
c.13280A>C (p.Lys4427Thr)
c.13334A>C (p.Lys4445Thr)
c.13226A>C (p.Lys4409Thr)
c.13403A>C (p.Lys4468Thr)
c.13391A>C (p.Lys4464Thr)
c.13748A>C (p.Lys4583Thr)
c.13349A>C (p.Lys4450Thr)
c.13337A>C (p.Lys4446Thr)
c.13295A>C (p.Lys4432Thr)
c.13271A>C (p.Lys4424Thr)
c.13241A>C (p.Lys4414Thr)
c.13418A>C (p.Lys4473Thr)
c.13268A>C (p.Lys4423Thr)
c.9968A>C (p.Lys3323Thr)
8g.143916500T>ACA372475651PLECc.13453A>T (p.Lys4485Ter)
c.13372A>T (p.Lys4458Ter)
c.13039A>T (p.Lys4347Ter)
c.13252A>T (p.Lys4418Ter)
c.13321A>T (p.Lys4441Ter)
c.10021A>T (p.Lys3341Ter)
c.13732A>T (p.Lys4578Ter)
c.13255A>T (p.Lys4419Ter)
c.13279A>T (p.Lys4427Ter)
c.13333A>T (p.Lys4445Ter)
c.13225A>T (p.Lys4409Ter)
c.13402A>T (p.Lys4468Ter)
c.13390A>T (p.Lys4464Ter)
c.13747A>T (p.Lys4583Ter)
c.13348A>T (p.Lys4450Ter)
c.13336A>T (p.Lys4446Ter)
c.13294A>T (p.Lys4432Ter)
c.13270A>T (p.Lys4424Ter)
c.13240A>T (p.Lys4414Ter)
c.13417A>T (p.Lys4473Ter)
c.13267A>T (p.Lys4423Ter)
c.9967A>T (p.Lys3323Ter)
8g.143916500T>CCA372475652PLECc.13453A>G (p.Lys4485Glu)
c.13372A>G (p.Lys4458Glu)
c.13039A>G (p.Lys4347Glu)
c.13252A>G (p.Lys4418Glu)
c.13321A>G (p.Lys4441Glu)
c.10021A>G (p.Lys3341Glu)
c.13732A>G (p.Lys4578Glu)
c.13255A>G (p.Lys4419Glu)
c.13279A>G (p.Lys4427Glu)
c.13333A>G (p.Lys4445Glu)
c.13225A>G (p.Lys4409Glu)
c.13402A>G (p.Lys4468Glu)
c.13390A>G (p.Lys4464Glu)
c.13747A>G (p.Lys4583Glu)
c.13348A>G (p.Lys4450Glu)
c.13336A>G (p.Lys4446Glu)
c.13294A>G (p.Lys4432Glu)
c.13270A>G (p.Lys4424Glu)
c.13240A>G (p.Lys4414Glu)
c.13417A>G (p.Lys4473Glu)
c.13267A>G (p.Lys4423Glu)
c.9967A>G (p.Lys3323Glu)
8g.143916500T>GCA372475653PLECc.13453A>C (p.Lys4485Gln)
c.13372A>C (p.Lys4458Gln)
c.13039A>C (p.Lys4347Gln)
c.13252A>C (p.Lys4418Gln)
c.13321A>C (p.Lys4441Gln)
c.10021A>C (p.Lys3341Gln)
c.13732A>C (p.Lys4578Gln)
c.13255A>C (p.Lys4419Gln)
c.13279A>C (p.Lys4427Gln)
c.13333A>C (p.Lys4445Gln)
c.13225A>C (p.Lys4409Gln)
c.13402A>C (p.Lys4468Gln)
c.13390A>C (p.Lys4464Gln)
c.13747A>C (p.Lys4583Gln)
c.13348A>C (p.Lys4450Gln)
c.13336A>C (p.Lys4446Gln)
c.13294A>C (p.Lys4432Gln)
c.13270A>C (p.Lys4424Gln)
c.13240A>C (p.Lys4414Gln)
c.13417A>C (p.Lys4473Gln)
c.13267A>C (p.Lys4423Gln)
c.9967A>C (p.Lys3323Gln)
8g.143916501G>ACA463525628PLECc.13452C>T (p.Thr4484=)
c.13371C>T (p.Thr4457=)
c.13038C>T (p.Thr4346=)
c.13251C>T (p.Thr4417=)
c.13320C>T (p.Thr4440=)
c.10020C>T (p.Thr3340=)
c.13731C>T (p.Thr4577=)
c.13254C>T (p.Thr4418=)
c.13278C>T (p.Thr4426=)
c.13332C>T (p.Thr4444=)
c.13224C>T (p.Thr4408=)
c.13401C>T (p.Thr4467=)
c.13389C>T (p.Thr4463=)
c.13746C>T (p.Thr4582=)
c.13347C>T (p.Thr4449=)
c.13335C>T (p.Thr4445=)
c.13293C>T (p.Thr4431=)
c.13269C>T (p.Thr4423=)
c.13239C>T (p.Thr4413=)
c.13416C>T (p.Thr4472=)
c.13266C>T (p.Thr4422=)
c.9966C>T (p.Thr3322=)
 gnomAD v4
8g.143916501G>CCA4923841PLECc.13452C>G (p.Thr4484=)
c.13371C>G (p.Thr4457=)
c.13038C>G (p.Thr4346=)
c.13251C>G (p.Thr4417=)
c.13320C>G (p.Thr4440=)
c.10020C>G (p.Thr3340=)
c.13731C>G (p.Thr4577=)
c.13254C>G (p.Thr4418=)
c.13278C>G (p.Thr4426=)
c.13332C>G (p.Thr4444=)
c.13224C>G (p.Thr4408=)
c.13401C>G (p.Thr4467=)
c.13389C>G (p.Thr4463=)
c.13746C>G (p.Thr4582=)
c.13347C>G (p.Thr4449=)
c.13335C>G (p.Thr4445=)
c.13293C>G (p.Thr4431=)
c.13269C>G (p.Thr4423=)
c.13239C>G (p.Thr4413=)
c.13416C>G (p.Thr4472=)
c.13266C>G (p.Thr4422=)
c.9966C>G (p.Thr3322=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916501G=CA1826037278PLECc.13452C= (p.Thr4484=)
c.13371C= (p.Thr4457=)
c.13038C= (p.Thr4346=)
c.13251C= (p.Thr4417=)
c.13320C= (p.Thr4440=)
c.10020C= (p.Thr3340=)
c.13731C= (p.Thr4577=)
c.13254C= (p.Thr4418=)
c.13278C= (p.Thr4426=)
c.13332C= (p.Thr4444=)
c.13224C= (p.Thr4408=)
c.13401C= (p.Thr4467=)
c.13389C= (p.Thr4463=)
c.13746C= (p.Thr4582=)
c.13347C= (p.Thr4449=)
c.13335C= (p.Thr4445=)
c.13293C= (p.Thr4431=)
c.13269C= (p.Thr4423=)
c.13239C= (p.Thr4413=)
c.13416C= (p.Thr4472=)
c.13266C= (p.Thr4422=)
c.9966C= (p.Thr3322=)
8g.143916501G>TCA463525629PLECc.13452C>A (p.Thr4484=)
c.13371C>A (p.Thr4457=)
c.13038C>A (p.Thr4346=)
c.13251C>A (p.Thr4417=)
c.13320C>A (p.Thr4440=)
c.10020C>A (p.Thr3340=)
c.13731C>A (p.Thr4577=)
c.13254C>A (p.Thr4418=)
c.13278C>A (p.Thr4426=)
c.13332C>A (p.Thr4444=)
c.13224C>A (p.Thr4408=)
c.13401C>A (p.Thr4467=)
c.13389C>A (p.Thr4463=)
c.13746C>A (p.Thr4582=)
c.13347C>A (p.Thr4449=)
c.13335C>A (p.Thr4445=)
c.13293C>A (p.Thr4431=)
c.13269C>A (p.Thr4423=)
c.13239C>A (p.Thr4413=)
c.13416C>A (p.Thr4472=)
c.13266C>A (p.Thr4422=)
c.9966C>A (p.Thr3322=)
8g.143916502G>ACA372475655PLECc.13451C>T (p.Thr4484Ile)
c.13370C>T (p.Thr4457Ile)
c.13037C>T (p.Thr4346Ile)
c.13250C>T (p.Thr4417Ile)
c.13319C>T (p.Thr4440Ile)
c.10019C>T (p.Thr3340Ile)
c.13730C>T (p.Thr4577Ile)
c.13253C>T (p.Thr4418Ile)
c.13277C>T (p.Thr4426Ile)
c.13331C>T (p.Thr4444Ile)
c.13223C>T (p.Thr4408Ile)
c.13400C>T (p.Thr4467Ile)
c.13388C>T (p.Thr4463Ile)
c.13745C>T (p.Thr4582Ile)
c.13346C>T (p.Thr4449Ile)
c.13334C>T (p.Thr4445Ile)
c.13292C>T (p.Thr4431Ile)
c.13268C>T (p.Thr4423Ile)
c.13238C>T (p.Thr4413Ile)
c.13415C>T (p.Thr4472Ile)
c.13265C>T (p.Thr4422Ile)
c.9965C>T (p.Thr3322Ile)
 dbSNP gnomAD v2 gnomAD v4
8g.143916502G>CCA4923842PLECc.13451C>G (p.Thr4484Ser)
c.13370C>G (p.Thr4457Ser)
c.13037C>G (p.Thr4346Ser)
c.13250C>G (p.Thr4417Ser)
c.13319C>G (p.Thr4440Ser)
c.10019C>G (p.Thr3340Ser)
c.13730C>G (p.Thr4577Ser)
c.13253C>G (p.Thr4418Ser)
c.13277C>G (p.Thr4426Ser)
c.13331C>G (p.Thr4444Ser)
c.13223C>G (p.Thr4408Ser)
c.13400C>G (p.Thr4467Ser)
c.13388C>G (p.Thr4463Ser)
c.13745C>G (p.Thr4582Ser)
c.13346C>G (p.Thr4449Ser)
c.13334C>G (p.Thr4445Ser)
c.13292C>G (p.Thr4431Ser)
c.13268C>G (p.Thr4423Ser)
c.13238C>G (p.Thr4413Ser)
c.13415C>G (p.Thr4472Ser)
c.13265C>G (p.Thr4422Ser)
c.9965C>G (p.Thr3322Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916502G=CA1826037280PLECc.13451C= (p.Thr4484=)
c.13370C= (p.Thr4457=)
c.13037C= (p.Thr4346=)
c.13250C= (p.Thr4417=)
c.13319C= (p.Thr4440=)
c.10019C= (p.Thr3340=)
c.13730C= (p.Thr4577=)
c.13253C= (p.Thr4418=)
c.13277C= (p.Thr4426=)
c.13331C= (p.Thr4444=)
c.13223C= (p.Thr4408=)
c.13400C= (p.Thr4467=)
c.13388C= (p.Thr4463=)
c.13745C= (p.Thr4582=)
c.13346C= (p.Thr4449=)
c.13334C= (p.Thr4445=)
c.13292C= (p.Thr4431=)
c.13268C= (p.Thr4423=)
c.13238C= (p.Thr4413=)
c.13415C= (p.Thr4472=)
c.13265C= (p.Thr4422=)
c.9965C= (p.Thr3322=)
8g.143916502G>TCA372475654PLECc.13451C>A (p.Thr4484Asn)
c.13370C>A (p.Thr4457Asn)
c.13037C>A (p.Thr4346Asn)
c.13250C>A (p.Thr4417Asn)
c.13319C>A (p.Thr4440Asn)
c.10019C>A (p.Thr3340Asn)
c.13730C>A (p.Thr4577Asn)
c.13253C>A (p.Thr4418Asn)
c.13277C>A (p.Thr4426Asn)
c.13331C>A (p.Thr4444Asn)
c.13223C>A (p.Thr4408Asn)
c.13400C>A (p.Thr4467Asn)
c.13388C>A (p.Thr4463Asn)
c.13745C>A (p.Thr4582Asn)
c.13346C>A (p.Thr4449Asn)
c.13334C>A (p.Thr4445Asn)
c.13292C>A (p.Thr4431Asn)
c.13268C>A (p.Thr4423Asn)
c.13238C>A (p.Thr4413Asn)
c.13415C>A (p.Thr4472Asn)
c.13265C>A (p.Thr4422Asn)
c.9965C>A (p.Thr3322Asn)
8g.143916503T>ACA372475658PLECc.13450A>T (p.Thr4484Ser)
c.13369A>T (p.Thr4457Ser)
c.13036A>T (p.Thr4346Ser)
c.13249A>T (p.Thr4417Ser)
c.13318A>T (p.Thr4440Ser)
c.10018A>T (p.Thr3340Ser)
c.13729A>T (p.Thr4577Ser)
c.13252A>T (p.Thr4418Ser)
c.13276A>T (p.Thr4426Ser)
c.13330A>T (p.Thr4444Ser)
c.13222A>T (p.Thr4408Ser)
c.13399A>T (p.Thr4467Ser)
c.13387A>T (p.Thr4463Ser)
c.13744A>T (p.Thr4582Ser)
c.13345A>T (p.Thr4449Ser)
c.13333A>T (p.Thr4445Ser)
c.13291A>T (p.Thr4431Ser)
c.13267A>T (p.Thr4423Ser)
c.13237A>T (p.Thr4413Ser)
c.13414A>T (p.Thr4472Ser)
c.13264A>T (p.Thr4422Ser)
c.9964A>T (p.Thr3322Ser)
 gnomAD v4
8g.143916503T>CCA372475656PLECc.13450A>G (p.Thr4484Ala)
c.13369A>G (p.Thr4457Ala)
c.13036A>G (p.Thr4346Ala)
c.13249A>G (p.Thr4417Ala)
c.13318A>G (p.Thr4440Ala)
c.10018A>G (p.Thr3340Ala)
c.13729A>G (p.Thr4577Ala)
c.13252A>G (p.Thr4418Ala)
c.13276A>G (p.Thr4426Ala)
c.13330A>G (p.Thr4444Ala)
c.13222A>G (p.Thr4408Ala)
c.13399A>G (p.Thr4467Ala)
c.13387A>G (p.Thr4463Ala)
c.13744A>G (p.Thr4582Ala)
c.13345A>G (p.Thr4449Ala)
c.13333A>G (p.Thr4445Ala)
c.13291A>G (p.Thr4431Ala)
c.13267A>G (p.Thr4423Ala)
c.13237A>G (p.Thr4413Ala)
c.13414A>G (p.Thr4472Ala)
c.13264A>G (p.Thr4422Ala)
c.9964A>G (p.Thr3322Ala)
8g.143916503T>GCA372475657PLECc.13450A>C (p.Thr4484Pro)
c.13369A>C (p.Thr4457Pro)
c.13036A>C (p.Thr4346Pro)
c.13249A>C (p.Thr4417Pro)
c.13318A>C (p.Thr4440Pro)
c.10018A>C (p.Thr3340Pro)
c.13729A>C (p.Thr4577Pro)
c.13252A>C (p.Thr4418Pro)
c.13276A>C (p.Thr4426Pro)
c.13330A>C (p.Thr4444Pro)
c.13222A>C (p.Thr4408Pro)
c.13399A>C (p.Thr4467Pro)
c.13387A>C (p.Thr4463Pro)
c.13744A>C (p.Thr4582Pro)
c.13345A>C (p.Thr4449Pro)
c.13333A>C (p.Thr4445Pro)
c.13291A>C (p.Thr4431Pro)
c.13267A>C (p.Thr4423Pro)
c.13237A>C (p.Thr4413Pro)
c.13414A>C (p.Thr4472Pro)
c.13264A>C (p.Thr4422Pro)
c.9964A>C (p.Thr3322Pro)
8g.143916504C>ACA372475659PLECc.13449G>T (p.Lys4483Asn)
c.13368G>T (p.Lys4456Asn)
c.13035G>T (p.Lys4345Asn)
c.13248G>T (p.Lys4416Asn)
c.13317G>T (p.Lys4439Asn)
c.10017G>T (p.Lys3339Asn)
c.13728G>T (p.Lys4576Asn)
c.13251G>T (p.Lys4417Asn)
c.13275G>T (p.Lys4425Asn)
c.13329G>T (p.Lys4443Asn)
c.13221G>T (p.Lys4407Asn)
c.13398G>T (p.Lys4466Asn)
c.13386G>T (p.Lys4462Asn)
c.13743G>T (p.Lys4581Asn)
c.13344G>T (p.Lys4448Asn)
c.13332G>T (p.Lys4444Asn)
c.13290G>T (p.Lys4430Asn)
c.13266G>T (p.Lys4422Asn)
c.13236G>T (p.Lys4412Asn)
c.13413G>T (p.Lys4471Asn)
c.13263G>T (p.Lys4421Asn)
c.9963G>T (p.Lys3321Asn)
8g.143916504C>GCA372475660PLECc.13449G>C (p.Lys4483Asn)
c.13368G>C (p.Lys4456Asn)
c.13035G>C (p.Lys4345Asn)
c.13248G>C (p.Lys4416Asn)
c.13317G>C (p.Lys4439Asn)
c.10017G>C (p.Lys3339Asn)
c.13728G>C (p.Lys4576Asn)
c.13251G>C (p.Lys4417Asn)
c.13275G>C (p.Lys4425Asn)
c.13329G>C (p.Lys4443Asn)
c.13221G>C (p.Lys4407Asn)
c.13398G>C (p.Lys4466Asn)
c.13386G>C (p.Lys4462Asn)
c.13743G>C (p.Lys4581Asn)
c.13344G>C (p.Lys4448Asn)
c.13332G>C (p.Lys4444Asn)
c.13290G>C (p.Lys4430Asn)
c.13266G>C (p.Lys4422Asn)
c.13236G>C (p.Lys4412Asn)
c.13413G>C (p.Lys4471Asn)
c.13263G>C (p.Lys4421Asn)
c.9963G>C (p.Lys3321Asn)
8g.143916504C>TCA463525632PLECc.13449G>A (p.Lys4483=)
c.13368G>A (p.Lys4456=)
c.13035G>A (p.Lys4345=)
c.13248G>A (p.Lys4416=)
c.13317G>A (p.Lys4439=)
c.10017G>A (p.Lys3339=)
c.13728G>A (p.Lys4576=)
c.13251G>A (p.Lys4417=)
c.13275G>A (p.Lys4425=)
c.13329G>A (p.Lys4443=)
c.13221G>A (p.Lys4407=)
c.13398G>A (p.Lys4466=)
c.13386G>A (p.Lys4462=)
c.13743G>A (p.Lys4581=)
c.13344G>A (p.Lys4448=)
c.13332G>A (p.Lys4444=)
c.13290G>A (p.Lys4430=)
c.13266G>A (p.Lys4422=)
c.13236G>A (p.Lys4412=)
c.13413G>A (p.Lys4471=)
c.13263G>A (p.Lys4421=)
c.9963G>A (p.Lys3321=)
 gnomAD v4
8g.143916505T>ACA372475661PLECc.13448A>T (p.Lys4483Met)
c.13367A>T (p.Lys4456Met)
c.13034A>T (p.Lys4345Met)
c.13247A>T (p.Lys4416Met)
c.13316A>T (p.Lys4439Met)
c.10016A>T (p.Lys3339Met)
c.13727A>T (p.Lys4576Met)
c.13250A>T (p.Lys4417Met)
c.13274A>T (p.Lys4425Met)
c.13328A>T (p.Lys4443Met)
c.13220A>T (p.Lys4407Met)
c.13397A>T (p.Lys4466Met)
c.13385A>T (p.Lys4462Met)
c.13742A>T (p.Lys4581Met)
c.13343A>T (p.Lys4448Met)
c.13331A>T (p.Lys4444Met)
c.13289A>T (p.Lys4430Met)
c.13265A>T (p.Lys4422Met)
c.13235A>T (p.Lys4412Met)
c.13412A>T (p.Lys4471Met)
c.13262A>T (p.Lys4421Met)
c.9962A>T (p.Lys3321Met)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916505T>CCA372475662PLECc.13448A>G (p.Lys4483Arg)
c.13367A>G (p.Lys4456Arg)
c.13034A>G (p.Lys4345Arg)
c.13247A>G (p.Lys4416Arg)
c.13316A>G (p.Lys4439Arg)
c.10016A>G (p.Lys3339Arg)
c.13727A>G (p.Lys4576Arg)
c.13250A>G (p.Lys4417Arg)
c.13274A>G (p.Lys4425Arg)
c.13328A>G (p.Lys4443Arg)
c.13220A>G (p.Lys4407Arg)
c.13397A>G (p.Lys4466Arg)
c.13385A>G (p.Lys4462Arg)
c.13742A>G (p.Lys4581Arg)
c.13343A>G (p.Lys4448Arg)
c.13331A>G (p.Lys4444Arg)
c.13289A>G (p.Lys4430Arg)
c.13265A>G (p.Lys4422Arg)
c.13235A>G (p.Lys4412Arg)
c.13412A>G (p.Lys4471Arg)
c.13262A>G (p.Lys4421Arg)
c.9962A>G (p.Lys3321Arg)
8g.143916505T>GCA372475663PLECc.13448A>C (p.Lys4483Thr)
c.13367A>C (p.Lys4456Thr)
c.13034A>C (p.Lys4345Thr)
c.13247A>C (p.Lys4416Thr)
c.13316A>C (p.Lys4439Thr)
c.10016A>C (p.Lys3339Thr)
c.13727A>C (p.Lys4576Thr)
c.13250A>C (p.Lys4417Thr)
c.13274A>C (p.Lys4425Thr)
c.13328A>C (p.Lys4443Thr)
c.13220A>C (p.Lys4407Thr)
c.13397A>C (p.Lys4466Thr)
c.13385A>C (p.Lys4462Thr)
c.13742A>C (p.Lys4581Thr)
c.13343A>C (p.Lys4448Thr)
c.13331A>C (p.Lys4444Thr)
c.13289A>C (p.Lys4430Thr)
c.13265A>C (p.Lys4422Thr)
c.13235A>C (p.Lys4412Thr)
c.13412A>C (p.Lys4471Thr)
c.13262A>C (p.Lys4421Thr)
c.9962A>C (p.Lys3321Thr)
8g.143916506T>ACA372475664PLECc.13447A>T (p.Lys4483Ter)
c.13366A>T (p.Lys4456Ter)
c.13033A>T (p.Lys4345Ter)
c.13246A>T (p.Lys4416Ter)
c.13315A>T (p.Lys4439Ter)
c.10015A>T (p.Lys3339Ter)
c.13726A>T (p.Lys4576Ter)
c.13249A>T (p.Lys4417Ter)
c.13273A>T (p.Lys4425Ter)
c.13327A>T (p.Lys4443Ter)
c.13219A>T (p.Lys4407Ter)
c.13396A>T (p.Lys4466Ter)
c.13384A>T (p.Lys4462Ter)
c.13741A>T (p.Lys4581Ter)
c.13342A>T (p.Lys4448Ter)
c.13330A>T (p.Lys4444Ter)
c.13288A>T (p.Lys4430Ter)
c.13264A>T (p.Lys4422Ter)
c.13234A>T (p.Lys4412Ter)
c.13411A>T (p.Lys4471Ter)
c.13261A>T (p.Lys4421Ter)
c.9961A>T (p.Lys3321Ter)
8g.143916506T>CCA4923843PLECc.13447A>G (p.Lys4483Glu)
c.13366A>G (p.Lys4456Glu)
c.13033A>G (p.Lys4345Glu)
c.13246A>G (p.Lys4416Glu)
c.13315A>G (p.Lys4439Glu)
c.10015A>G (p.Lys3339Glu)
c.13726A>G (p.Lys4576Glu)
c.13249A>G (p.Lys4417Glu)
c.13273A>G (p.Lys4425Glu)
c.13327A>G (p.Lys4443Glu)
c.13219A>G (p.Lys4407Glu)
c.13396A>G (p.Lys4466Glu)
c.13384A>G (p.Lys4462Glu)
c.13741A>G (p.Lys4581Glu)
c.13342A>G (p.Lys4448Glu)
c.13330A>G (p.Lys4444Glu)
c.13288A>G (p.Lys4430Glu)
c.13264A>G (p.Lys4422Glu)
c.13234A>G (p.Lys4412Glu)
c.13411A>G (p.Lys4471Glu)
c.13261A>G (p.Lys4421Glu)
c.9961A>G (p.Lys3321Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916506T>GCA372475665PLECc.13447A>C (p.Lys4483Gln)
c.13366A>C (p.Lys4456Gln)
c.13033A>C (p.Lys4345Gln)
c.13246A>C (p.Lys4416Gln)
c.13315A>C (p.Lys4439Gln)
c.10015A>C (p.Lys3339Gln)
c.13726A>C (p.Lys4576Gln)
c.13249A>C (p.Lys4417Gln)
c.13273A>C (p.Lys4425Gln)
c.13327A>C (p.Lys4443Gln)
c.13219A>C (p.Lys4407Gln)
c.13396A>C (p.Lys4466Gln)
c.13384A>C (p.Lys4462Gln)
c.13741A>C (p.Lys4581Gln)
c.13342A>C (p.Lys4448Gln)
c.13330A>C (p.Lys4444Gln)
c.13288A>C (p.Lys4430Gln)
c.13264A>C (p.Lys4422Gln)
c.13234A>C (p.Lys4412Gln)
c.13411A>C (p.Lys4471Gln)
c.13261A>C (p.Lys4421Gln)
c.9961A>C (p.Lys3321Gln)
8g.143916506T=CA1826037282PLECc.13447A= (p.Lys4483=)
c.13366A= (p.Lys4456=)
c.13033A= (p.Lys4345=)
c.13246A= (p.Lys4416=)
c.13315A= (p.Lys4439=)
c.10015A= (p.Lys3339=)
c.13726A= (p.Lys4576=)
c.13249A= (p.Lys4417=)
c.13273A= (p.Lys4425=)
c.13327A= (p.Lys4443=)
c.13219A= (p.Lys4407=)
c.13396A= (p.Lys4466=)
c.13384A= (p.Lys4462=)
c.13741A= (p.Lys4581=)
c.13342A= (p.Lys4448=)
c.13330A= (p.Lys4444=)
c.13288A= (p.Lys4430=)
c.13264A= (p.Lys4422=)
c.13234A= (p.Lys4412=)
c.13411A= (p.Lys4471=)
c.13261A= (p.Lys4421=)
c.9961A= (p.Lys3321=)
8g.143916507A=CA1826037286PLECc.13446T= (p.Pro4482=)
c.13365T= (p.Pro4455=)
c.13032T= (p.Pro4344=)
c.13245T= (p.Pro4415=)
c.13314T= (p.Pro4438=)
c.10014T= (p.Pro3338=)
c.13725T= (p.Pro4575=)
c.13248T= (p.Pro4416=)
c.13272T= (p.Pro4424=)
c.13326T= (p.Pro4442=)
c.13218T= (p.Pro4406=)
c.13395T= (p.Pro4465=)
c.13383T= (p.Pro4461=)
c.13740T= (p.Pro4580=)
c.13341T= (p.Pro4447=)
c.13329T= (p.Pro4443=)
c.13287T= (p.Pro4429=)
c.13263T= (p.Pro4421=)
c.13233T= (p.Pro4411=)
c.13410T= (p.Pro4470=)
c.13260T= (p.Pro4420=)
c.9960T= (p.Pro3320=)
8g.143916507A>CCA463525639PLECc.13446T>G (p.Pro4482=)
c.13365T>G (p.Pro4455=)
c.13032T>G (p.Pro4344=)
c.13245T>G (p.Pro4415=)
c.13314T>G (p.Pro4438=)
c.10014T>G (p.Pro3338=)
c.13725T>G (p.Pro4575=)
c.13248T>G (p.Pro4416=)
c.13272T>G (p.Pro4424=)
c.13326T>G (p.Pro4442=)
c.13218T>G (p.Pro4406=)
c.13395T>G (p.Pro4465=)
c.13383T>G (p.Pro4461=)
c.13740T>G (p.Pro4580=)
c.13341T>G (p.Pro4447=)
c.13329T>G (p.Pro4443=)
c.13287T>G (p.Pro4429=)
c.13263T>G (p.Pro4421=)
c.13233T>G (p.Pro4411=)
c.13410T>G (p.Pro4470=)
c.13260T>G (p.Pro4420=)
c.9960T>G (p.Pro3320=)
 dbSNP gnomAD v4
8g.143916507A>GCA463525636PLECc.13446T>C (p.Pro4482=)
c.13365T>C (p.Pro4455=)
c.13032T>C (p.Pro4344=)
c.13245T>C (p.Pro4415=)
c.13314T>C (p.Pro4438=)
c.10014T>C (p.Pro3338=)
c.13725T>C (p.Pro4575=)
c.13248T>C (p.Pro4416=)
c.13272T>C (p.Pro4424=)
c.13326T>C (p.Pro4442=)
c.13218T>C (p.Pro4406=)
c.13395T>C (p.Pro4465=)
c.13383T>C (p.Pro4461=)
c.13740T>C (p.Pro4580=)
c.13341T>C (p.Pro4447=)
c.13329T>C (p.Pro4443=)
c.13287T>C (p.Pro4429=)
c.13263T>C (p.Pro4421=)
c.13233T>C (p.Pro4411=)
c.13410T>C (p.Pro4470=)
c.13260T>C (p.Pro4420=)
c.9960T>C (p.Pro3320=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916507A>TCA463525638PLECc.13446T>A (p.Pro4482=)
c.13365T>A (p.Pro4455=)
c.13032T>A (p.Pro4344=)
c.13245T>A (p.Pro4415=)
c.13314T>A (p.Pro4438=)
c.10014T>A (p.Pro3338=)
c.13725T>A (p.Pro4575=)
c.13248T>A (p.Pro4416=)
c.13272T>A (p.Pro4424=)
c.13326T>A (p.Pro4442=)
c.13218T>A (p.Pro4406=)
c.13395T>A (p.Pro4465=)
c.13383T>A (p.Pro4461=)
c.13740T>A (p.Pro4580=)
c.13341T>A (p.Pro4447=)
c.13329T>A (p.Pro4443=)
c.13287T>A (p.Pro4429=)
c.13263T>A (p.Pro4421=)
c.13233T>A (p.Pro4411=)
c.13410T>A (p.Pro4470=)
c.13260T>A (p.Pro4420=)
c.9960T>A (p.Pro3320=)
8g.143916508G>ACA4923844PLECc.13445C>T (p.Pro4482Leu)
c.13364C>T (p.Pro4455Leu)
c.13031C>T (p.Pro4344Leu)
c.13244C>T (p.Pro4415Leu)
c.13313C>T (p.Pro4438Leu)
c.10013C>T (p.Pro3338Leu)
c.13724C>T (p.Pro4575Leu)
c.13247C>T (p.Pro4416Leu)
c.13271C>T (p.Pro4424Leu)
c.13325C>T (p.Pro4442Leu)
c.13217C>T (p.Pro4406Leu)
c.13394C>T (p.Pro4465Leu)
c.13382C>T (p.Pro4461Leu)
c.13739C>T (p.Pro4580Leu)
c.13340C>T (p.Pro4447Leu)
c.13328C>T (p.Pro4443Leu)
c.13286C>T (p.Pro4429Leu)
c.13262C>T (p.Pro4421Leu)
c.13232C>T (p.Pro4411Leu)
c.13409C>T (p.Pro4470Leu)
c.13259C>T (p.Pro4420Leu)
c.9959C>T (p.Pro3320Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916508G>CCA372475666PLECc.13445C>G (p.Pro4482Arg)
c.13364C>G (p.Pro4455Arg)
c.13031C>G (p.Pro4344Arg)
c.13244C>G (p.Pro4415Arg)
c.13313C>G (p.Pro4438Arg)
c.10013C>G (p.Pro3338Arg)
c.13724C>G (p.Pro4575Arg)
c.13247C>G (p.Pro4416Arg)
c.13271C>G (p.Pro4424Arg)
c.13325C>G (p.Pro4442Arg)
c.13217C>G (p.Pro4406Arg)
c.13394C>G (p.Pro4465Arg)
c.13382C>G (p.Pro4461Arg)
c.13739C>G (p.Pro4580Arg)
c.13340C>G (p.Pro4447Arg)
c.13328C>G (p.Pro4443Arg)
c.13286C>G (p.Pro4429Arg)
c.13262C>G (p.Pro4421Arg)
c.13232C>G (p.Pro4411Arg)
c.13409C>G (p.Pro4470Arg)
c.13259C>G (p.Pro4420Arg)
c.9959C>G (p.Pro3320Arg)
8g.143916508G=CA1826037288PLECc.13445C= (p.Pro4482=)
c.13364C= (p.Pro4455=)
c.13031C= (p.Pro4344=)
c.13244C= (p.Pro4415=)
c.13313C= (p.Pro4438=)
c.10013C= (p.Pro3338=)
c.13724C= (p.Pro4575=)
c.13247C= (p.Pro4416=)
c.13271C= (p.Pro4424=)
c.13325C= (p.Pro4442=)
c.13217C= (p.Pro4406=)
c.13394C= (p.Pro4465=)
c.13382C= (p.Pro4461=)
c.13739C= (p.Pro4580=)
c.13340C= (p.Pro4447=)
c.13328C= (p.Pro4443=)
c.13286C= (p.Pro4429=)
c.13262C= (p.Pro4421=)
c.13232C= (p.Pro4411=)
c.13409C= (p.Pro4470=)
c.13259C= (p.Pro4420=)
c.9959C= (p.Pro3320=)
8g.143916508G>TCA372475667PLECc.13445C>A (p.Pro4482His)
c.13364C>A (p.Pro4455His)
c.13031C>A (p.Pro4344His)
c.13244C>A (p.Pro4415His)
c.13313C>A (p.Pro4438His)
c.10013C>A (p.Pro3338His)
c.13724C>A (p.Pro4575His)
c.13247C>A (p.Pro4416His)
c.13271C>A (p.Pro4424His)
c.13325C>A (p.Pro4442His)
c.13217C>A (p.Pro4406His)
c.13394C>A (p.Pro4465His)
c.13382C>A (p.Pro4461His)
c.13739C>A (p.Pro4580His)
c.13340C>A (p.Pro4447His)
c.13328C>A (p.Pro4443His)
c.13286C>A (p.Pro4429His)
c.13262C>A (p.Pro4421His)
c.13232C>A (p.Pro4411His)
c.13409C>A (p.Pro4470His)
c.13259C>A (p.Pro4420His)
c.9959C>A (p.Pro3320His)
 gnomAD v4
8g.143916509G>ACA372475670PLECc.13444C>T (p.Pro4482Ser)
c.13363C>T (p.Pro4455Ser)
c.13030C>T (p.Pro4344Ser)
c.13243C>T (p.Pro4415Ser)
c.13312C>T (p.Pro4438Ser)
c.10012C>T (p.Pro3338Ser)
c.13723C>T (p.Pro4575Ser)
c.13246C>T (p.Pro4416Ser)
c.13270C>T (p.Pro4424Ser)
c.13324C>T (p.Pro4442Ser)
c.13216C>T (p.Pro4406Ser)
c.13393C>T (p.Pro4465Ser)
c.13381C>T (p.Pro4461Ser)
c.13738C>T (p.Pro4580Ser)
c.13339C>T (p.Pro4447Ser)
c.13327C>T (p.Pro4443Ser)
c.13285C>T (p.Pro4429Ser)
c.13261C>T (p.Pro4421Ser)
c.13231C>T (p.Pro4411Ser)
c.13408C>T (p.Pro4470Ser)
c.13258C>T (p.Pro4420Ser)
c.9958C>T (p.Pro3320Ser)
 dbSNP gnomAD v4
8g.143916509G>CCA372475669PLECc.13444C>G (p.Pro4482Ala)
c.13363C>G (p.Pro4455Ala)
c.13030C>G (p.Pro4344Ala)
c.13243C>G (p.Pro4415Ala)
c.13312C>G (p.Pro4438Ala)
c.10012C>G (p.Pro3338Ala)
c.13723C>G (p.Pro4575Ala)
c.13246C>G (p.Pro4416Ala)
c.13270C>G (p.Pro4424Ala)
c.13324C>G (p.Pro4442Ala)
c.13216C>G (p.Pro4406Ala)
c.13393C>G (p.Pro4465Ala)
c.13381C>G (p.Pro4461Ala)
c.13738C>G (p.Pro4580Ala)
c.13339C>G (p.Pro4447Ala)
c.13327C>G (p.Pro4443Ala)
c.13285C>G (p.Pro4429Ala)
c.13261C>G (p.Pro4421Ala)
c.13231C>G (p.Pro4411Ala)
c.13408C>G (p.Pro4470Ala)
c.13258C>G (p.Pro4420Ala)
c.9958C>G (p.Pro3320Ala)
8g.143916509G=CA1826037290PLECc.13444C= (p.Pro4482=)
c.13363C= (p.Pro4455=)
c.13030C= (p.Pro4344=)
c.13243C= (p.Pro4415=)
c.13312C= (p.Pro4438=)
c.10012C= (p.Pro3338=)
c.13723C= (p.Pro4575=)
c.13246C= (p.Pro4416=)
c.13270C= (p.Pro4424=)
c.13324C= (p.Pro4442=)
c.13216C= (p.Pro4406=)
c.13393C= (p.Pro4465=)
c.13381C= (p.Pro4461=)
c.13738C= (p.Pro4580=)
c.13339C= (p.Pro4447=)
c.13327C= (p.Pro4443=)
c.13285C= (p.Pro4429=)
c.13261C= (p.Pro4421=)
c.13231C= (p.Pro4411=)
c.13408C= (p.Pro4470=)
c.13258C= (p.Pro4420=)
c.9958C= (p.Pro3320=)
8g.143916509G>TCA372475668PLECc.13444C>A (p.Pro4482Thr)
c.13363C>A (p.Pro4455Thr)
c.13030C>A (p.Pro4344Thr)
c.13243C>A (p.Pro4415Thr)
c.13312C>A (p.Pro4438Thr)
c.10012C>A (p.Pro3338Thr)
c.13723C>A (p.Pro4575Thr)
c.13246C>A (p.Pro4416Thr)
c.13270C>A (p.Pro4424Thr)
c.13324C>A (p.Pro4442Thr)
c.13216C>A (p.Pro4406Thr)
c.13393C>A (p.Pro4465Thr)
c.13381C>A (p.Pro4461Thr)
c.13738C>A (p.Pro4580Thr)
c.13339C>A (p.Pro4447Thr)
c.13327C>A (p.Pro4443Thr)
c.13285C>A (p.Pro4429Thr)
c.13261C>A (p.Pro4421Thr)
c.13231C>A (p.Pro4411Thr)
c.13408C>A (p.Pro4470Thr)
c.13258C>A (p.Pro4420Thr)
c.9958C>A (p.Pro3320Thr)
8g.143916510G>ACA4923845PLECc.13443C>T (p.Cys4481=)
c.13362C>T (p.Cys4454=)
c.13029C>T (p.Cys4343=)
c.13242C>T (p.Cys4414=)
c.13311C>T (p.Cys4437=)
c.10011C>T (p.Cys3337=)
c.13722C>T (p.Cys4574=)
c.13245C>T (p.Cys4415=)
c.13269C>T (p.Cys4423=)
c.13323C>T (p.Cys4441=)
c.13215C>T (p.Cys4405=)
c.13392C>T (p.Cys4464=)
c.13380C>T (p.Cys4460=)
c.13737C>T (p.Cys4579=)
c.13338C>T (p.Cys4446=)
c.13326C>T (p.Cys4442=)
c.13284C>T (p.Cys4428=)
c.13260C>T (p.Cys4420=)
c.13230C>T (p.Cys4410=)
c.13407C>T (p.Cys4469=)
c.13257C>T (p.Cys4419=)
c.9957C>T (p.Cys3319=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916510G>CCA372475671PLECc.13443C>G (p.Cys4481Trp)
c.13362C>G (p.Cys4454Trp)
c.13029C>G (p.Cys4343Trp)
c.13242C>G (p.Cys4414Trp)
c.13311C>G (p.Cys4437Trp)
c.10011C>G (p.Cys3337Trp)
c.13722C>G (p.Cys4574Trp)
c.13245C>G (p.Cys4415Trp)
c.13269C>G (p.Cys4423Trp)
c.13323C>G (p.Cys4441Trp)
c.13215C>G (p.Cys4405Trp)
c.13392C>G (p.Cys4464Trp)
c.13380C>G (p.Cys4460Trp)
c.13737C>G (p.Cys4579Trp)
c.13338C>G (p.Cys4446Trp)
c.13326C>G (p.Cys4442Trp)
c.13284C>G (p.Cys4428Trp)
c.13260C>G (p.Cys4420Trp)
c.13230C>G (p.Cys4410Trp)
c.13407C>G (p.Cys4469Trp)
c.13257C>G (p.Cys4419Trp)
c.9957C>G (p.Cys3319Trp)
8g.143916510G=CA1826037291PLECc.13443C= (p.Cys4481=)
c.13362C= (p.Cys4454=)
c.13029C= (p.Cys4343=)
c.13242C= (p.Cys4414=)
c.13311C= (p.Cys4437=)
c.10011C= (p.Cys3337=)
c.13722C= (p.Cys4574=)
c.13245C= (p.Cys4415=)
c.13269C= (p.Cys4423=)
c.13323C= (p.Cys4441=)
c.13215C= (p.Cys4405=)
c.13392C= (p.Cys4464=)
c.13380C= (p.Cys4460=)
c.13737C= (p.Cys4579=)
c.13338C= (p.Cys4446=)
c.13326C= (p.Cys4442=)
c.13284C= (p.Cys4428=)
c.13260C= (p.Cys4420=)
c.13230C= (p.Cys4410=)
c.13407C= (p.Cys4469=)
c.13257C= (p.Cys4419=)
c.9957C= (p.Cys3319=)
8g.143916510G>TCA372475672PLECc.13443C>A (p.Cys4481Ter)
c.13362C>A (p.Cys4454Ter)
c.13029C>A (p.Cys4343Ter)
c.13242C>A (p.Cys4414Ter)
c.13311C>A (p.Cys4437Ter)
c.10011C>A (p.Cys3337Ter)
c.13722C>A (p.Cys4574Ter)
c.13245C>A (p.Cys4415Ter)
c.13269C>A (p.Cys4423Ter)
c.13323C>A (p.Cys4441Ter)
c.13215C>A (p.Cys4405Ter)
c.13392C>A (p.Cys4464Ter)
c.13380C>A (p.Cys4460Ter)
c.13737C>A (p.Cys4579Ter)
c.13338C>A (p.Cys4446Ter)
c.13326C>A (p.Cys4442Ter)
c.13284C>A (p.Cys4428Ter)
c.13260C>A (p.Cys4420Ter)
c.13230C>A (p.Cys4410Ter)
c.13407C>A (p.Cys4469Ter)
c.13257C>A (p.Cys4419Ter)
c.9957C>A (p.Cys3319Ter)
8g.143916511C>ACA187606582PLECc.13442G>T (p.Cys4481Phe)
c.13361G>T (p.Cys4454Phe)
c.13028G>T (p.Cys4343Phe)
c.13241G>T (p.Cys4414Phe)
c.13310G>T (p.Cys4437Phe)
c.10010G>T (p.Cys3337Phe)
c.13721G>T (p.Cys4574Phe)
c.13244G>T (p.Cys4415Phe)
c.13268G>T (p.Cys4423Phe)
c.13322G>T (p.Cys4441Phe)
c.13214G>T (p.Cys4405Phe)
c.13391G>T (p.Cys4464Phe)
c.13379G>T (p.Cys4460Phe)
c.13736G>T (p.Cys4579Phe)
c.13337G>T (p.Cys4446Phe)
c.13325G>T (p.Cys4442Phe)
c.13283G>T (p.Cys4428Phe)
c.13259G>T (p.Cys4420Phe)
c.13229G>T (p.Cys4410Phe)
c.13406G>T (p.Cys4469Phe)
c.13256G>T (p.Cys4419Phe)
c.9956G>T (p.Cys3319Phe)
 dbSNP
8g.143916511C=CA1826037293PLECc.13442G= (p.Cys4481=)
c.13361G= (p.Cys4454=)
c.13028G= (p.Cys4343=)
c.13241G= (p.Cys4414=)
c.13310G= (p.Cys4437=)
c.10010G= (p.Cys3337=)
c.13721G= (p.Cys4574=)
c.13244G= (p.Cys4415=)
c.13268G= (p.Cys4423=)
c.13322G= (p.Cys4441=)
c.13214G= (p.Cys4405=)
c.13391G= (p.Cys4464=)
c.13379G= (p.Cys4460=)
c.13736G= (p.Cys4579=)
c.13337G= (p.Cys4446=)
c.13325G= (p.Cys4442=)
c.13283G= (p.Cys4428=)
c.13259G= (p.Cys4420=)
c.13229G= (p.Cys4410=)
c.13406G= (p.Cys4469=)
c.13256G= (p.Cys4419=)
c.9956G= (p.Cys3319=)
8g.143916511C>GCA372475673PLECc.13442G>C (p.Cys4481Ser)
c.13361G>C (p.Cys4454Ser)
c.13028G>C (p.Cys4343Ser)
c.13241G>C (p.Cys4414Ser)
c.13310G>C (p.Cys4437Ser)
c.10010G>C (p.Cys3337Ser)
c.13721G>C (p.Cys4574Ser)
c.13244G>C (p.Cys4415Ser)
c.13268G>C (p.Cys4423Ser)
c.13322G>C (p.Cys4441Ser)
c.13214G>C (p.Cys4405Ser)
c.13391G>C (p.Cys4464Ser)
c.13379G>C (p.Cys4460Ser)
c.13736G>C (p.Cys4579Ser)
c.13337G>C (p.Cys4446Ser)
c.13325G>C (p.Cys4442Ser)
c.13283G>C (p.Cys4428Ser)
c.13259G>C (p.Cys4420Ser)
c.13229G>C (p.Cys4410Ser)
c.13406G>C (p.Cys4469Ser)
c.13256G>C (p.Cys4419Ser)
c.9956G>C (p.Cys3319Ser)
8g.143916511C>TCA372475674PLECc.13442G>A (p.Cys4481Tyr)
c.13361G>A (p.Cys4454Tyr)
c.13028G>A (p.Cys4343Tyr)
c.13241G>A (p.Cys4414Tyr)
c.13310G>A (p.Cys4437Tyr)
c.10010G>A (p.Cys3337Tyr)
c.13721G>A (p.Cys4574Tyr)
c.13244G>A (p.Cys4415Tyr)
c.13268G>A (p.Cys4423Tyr)
c.13322G>A (p.Cys4441Tyr)
c.13214G>A (p.Cys4405Tyr)
c.13391G>A (p.Cys4464Tyr)
c.13379G>A (p.Cys4460Tyr)
c.13736G>A (p.Cys4579Tyr)
c.13337G>A (p.Cys4446Tyr)
c.13325G>A (p.Cys4442Tyr)
c.13283G>A (p.Cys4428Tyr)
c.13259G>A (p.Cys4420Tyr)
c.13229G>A (p.Cys4410Tyr)
c.13406G>A (p.Cys4469Tyr)
c.13256G>A (p.Cys4419Tyr)
c.9956G>A (p.Cys3319Tyr)
 dbSNP gnomAD v4
8g.143916512A>CCA372475675PLECc.13441T>G (p.Cys4481Gly)
c.13360T>G (p.Cys4454Gly)
c.13027T>G (p.Cys4343Gly)
c.13240T>G (p.Cys4414Gly)
c.13309T>G (p.Cys4437Gly)
c.10009T>G (p.Cys3337Gly)
c.13720T>G (p.Cys4574Gly)
c.13243T>G (p.Cys4415Gly)
c.13267T>G (p.Cys4423Gly)
c.13321T>G (p.Cys4441Gly)
c.13213T>G (p.Cys4405Gly)
c.13390T>G (p.Cys4464Gly)
c.13378T>G (p.Cys4460Gly)
c.13735T>G (p.Cys4579Gly)
c.13336T>G (p.Cys4446Gly)
c.13324T>G (p.Cys4442Gly)
c.13282T>G (p.Cys4428Gly)
c.13258T>G (p.Cys4420Gly)
c.13228T>G (p.Cys4410Gly)
c.13405T>G (p.Cys4469Gly)
c.13255T>G (p.Cys4419Gly)
c.9955T>G (p.Cys3319Gly)
8g.143916512A>GCA372475676PLECc.13441T>C (p.Cys4481Arg)
c.13360T>C (p.Cys4454Arg)
c.13027T>C (p.Cys4343Arg)
c.13240T>C (p.Cys4414Arg)
c.13309T>C (p.Cys4437Arg)
c.10009T>C (p.Cys3337Arg)
c.13720T>C (p.Cys4574Arg)
c.13243T>C (p.Cys4415Arg)
c.13267T>C (p.Cys4423Arg)
c.13321T>C (p.Cys4441Arg)
c.13213T>C (p.Cys4405Arg)
c.13390T>C (p.Cys4464Arg)
c.13378T>C (p.Cys4460Arg)
c.13735T>C (p.Cys4579Arg)
c.13336T>C (p.Cys4446Arg)
c.13324T>C (p.Cys4442Arg)
c.13282T>C (p.Cys4428Arg)
c.13258T>C (p.Cys4420Arg)
c.13228T>C (p.Cys4410Arg)
c.13405T>C (p.Cys4469Arg)
c.13255T>C (p.Cys4419Arg)
c.9955T>C (p.Cys3319Arg)
8g.143916512A>TCA372475677PLECc.13441T>A (p.Cys4481Ser)
c.13360T>A (p.Cys4454Ser)
c.13027T>A (p.Cys4343Ser)
c.13240T>A (p.Cys4414Ser)
c.13309T>A (p.Cys4437Ser)
c.10009T>A (p.Cys3337Ser)
c.13720T>A (p.Cys4574Ser)
c.13243T>A (p.Cys4415Ser)
c.13267T>A (p.Cys4423Ser)
c.13321T>A (p.Cys4441Ser)
c.13213T>A (p.Cys4405Ser)
c.13390T>A (p.Cys4464Ser)
c.13378T>A (p.Cys4460Ser)
c.13735T>A (p.Cys4579Ser)
c.13336T>A (p.Cys4446Ser)
c.13324T>A (p.Cys4442Ser)
c.13282T>A (p.Cys4428Ser)
c.13258T>A (p.Cys4420Ser)
c.13228T>A (p.Cys4410Ser)
c.13405T>A (p.Cys4469Ser)
c.13255T>A (p.Cys4419Ser)
c.9955T>A (p.Cys3319Ser)
8g.143916513G>ACA4923846PLECc.13440C>T (p.Thr4480=)
c.13359C>T (p.Thr4453=)
c.13026C>T (p.Thr4342=)
c.13239C>T (p.Thr4413=)
c.13308C>T (p.Thr4436=)
c.10008C>T (p.Thr3336=)
c.13719C>T (p.Thr4573=)
c.13242C>T (p.Thr4414=)
c.13266C>T (p.Thr4422=)
c.13320C>T (p.Thr4440=)
c.13212C>T (p.Thr4404=)
c.13389C>T (p.Thr4463=)
c.13377C>T (p.Thr4459=)
c.13734C>T (p.Thr4578=)
c.13335C>T (p.Thr4445=)
c.13323C>T (p.Thr4441=)
c.13281C>T (p.Thr4427=)
c.13257C>T (p.Thr4419=)
c.13227C>T (p.Thr4409=)
c.13404C>T (p.Thr4468=)
c.13254C>T (p.Thr4418=)
c.9954C>T (p.Thr3318=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916513G>CCA463525647PLECc.13440C>G (p.Thr4480=)
c.13359C>G (p.Thr4453=)
c.13026C>G (p.Thr4342=)
c.13239C>G (p.Thr4413=)
c.13308C>G (p.Thr4436=)
c.10008C>G (p.Thr3336=)
c.13719C>G (p.Thr4573=)
c.13242C>G (p.Thr4414=)
c.13266C>G (p.Thr4422=)
c.13320C>G (p.Thr4440=)
c.13212C>G (p.Thr4404=)
c.13389C>G (p.Thr4463=)
c.13377C>G (p.Thr4459=)
c.13734C>G (p.Thr4578=)
c.13335C>G (p.Thr4445=)
c.13323C>G (p.Thr4441=)
c.13281C>G (p.Thr4427=)
c.13257C>G (p.Thr4419=)
c.13227C>G (p.Thr4409=)
c.13404C>G (p.Thr4468=)
c.13254C>G (p.Thr4418=)
c.9954C>G (p.Thr3318=)
 gnomAD v4
8g.143916513G=CA1826037295PLECc.13440C= (p.Thr4480=)
c.13359C= (p.Thr4453=)
c.13026C= (p.Thr4342=)
c.13239C= (p.Thr4413=)
c.13308C= (p.Thr4436=)
c.10008C= (p.Thr3336=)
c.13719C= (p.Thr4573=)
c.13242C= (p.Thr4414=)
c.13266C= (p.Thr4422=)
c.13320C= (p.Thr4440=)
c.13212C= (p.Thr4404=)
c.13389C= (p.Thr4463=)
c.13377C= (p.Thr4459=)
c.13734C= (p.Thr4578=)
c.13335C= (p.Thr4445=)
c.13323C= (p.Thr4441=)
c.13281C= (p.Thr4427=)
c.13257C= (p.Thr4419=)
c.13227C= (p.Thr4409=)
c.13404C= (p.Thr4468=)
c.13254C= (p.Thr4418=)
c.9954C= (p.Thr3318=)
8g.143916513G>TCA463525649PLECc.13440C>A (p.Thr4480=)
c.13359C>A (p.Thr4453=)
c.13026C>A (p.Thr4342=)
c.13239C>A (p.Thr4413=)
c.13308C>A (p.Thr4436=)
c.10008C>A (p.Thr3336=)
c.13719C>A (p.Thr4573=)
c.13242C>A (p.Thr4414=)
c.13266C>A (p.Thr4422=)
c.13320C>A (p.Thr4440=)
c.13212C>A (p.Thr4404=)
c.13389C>A (p.Thr4463=)
c.13377C>A (p.Thr4459=)
c.13734C>A (p.Thr4578=)
c.13335C>A (p.Thr4445=)
c.13323C>A (p.Thr4441=)
c.13281C>A (p.Thr4427=)
c.13257C>A (p.Thr4419=)
c.13227C>A (p.Thr4409=)
c.13404C>A (p.Thr4468=)
c.13254C>A (p.Thr4418=)
c.9954C>A (p.Thr3318=)
8g.143916514G>ACA372475678PLECc.13439C>T (p.Thr4480Ile)
c.13358C>T (p.Thr4453Ile)
c.13025C>T (p.Thr4342Ile)
c.13238C>T (p.Thr4413Ile)
c.13307C>T (p.Thr4436Ile)
c.10007C>T (p.Thr3336Ile)
c.13718C>T (p.Thr4573Ile)
c.13241C>T (p.Thr4414Ile)
c.13265C>T (p.Thr4422Ile)
c.13319C>T (p.Thr4440Ile)
c.13211C>T (p.Thr4404Ile)
c.13388C>T (p.Thr4463Ile)
c.13376C>T (p.Thr4459Ile)
c.13733C>T (p.Thr4578Ile)
c.13334C>T (p.Thr4445Ile)
c.13322C>T (p.Thr4441Ile)
c.13280C>T (p.Thr4427Ile)
c.13256C>T (p.Thr4419Ile)
c.13226C>T (p.Thr4409Ile)
c.13403C>T (p.Thr4468Ile)
c.13253C>T (p.Thr4418Ile)
c.9953C>T (p.Thr3318Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.143916514G>CCA372475679PLECc.13439C>G (p.Thr4480Ser)
c.13358C>G (p.Thr4453Ser)
c.13025C>G (p.Thr4342Ser)
c.13238C>G (p.Thr4413Ser)
c.13307C>G (p.Thr4436Ser)
c.10007C>G (p.Thr3336Ser)
c.13718C>G (p.Thr4573Ser)
c.13241C>G (p.Thr4414Ser)
c.13265C>G (p.Thr4422Ser)
c.13319C>G (p.Thr4440Ser)
c.13211C>G (p.Thr4404Ser)
c.13388C>G (p.Thr4463Ser)
c.13376C>G (p.Thr4459Ser)
c.13733C>G (p.Thr4578Ser)
c.13334C>G (p.Thr4445Ser)
c.13322C>G (p.Thr4441Ser)
c.13280C>G (p.Thr4427Ser)
c.13256C>G (p.Thr4419Ser)
c.13226C>G (p.Thr4409Ser)
c.13403C>G (p.Thr4468Ser)
c.13253C>G (p.Thr4418Ser)
c.9953C>G (p.Thr3318Ser)
 ClinVar dbSNP gnomAD v4
8g.143916514G=CA1826037300PLECc.13439C= (p.Thr4480=)
c.13358C= (p.Thr4453=)
c.13025C= (p.Thr4342=)
c.13238C= (p.Thr4413=)
c.13307C= (p.Thr4436=)
c.10007C= (p.Thr3336=)
c.13718C= (p.Thr4573=)
c.13241C= (p.Thr4414=)
c.13265C= (p.Thr4422=)
c.13319C= (p.Thr4440=)
c.13211C= (p.Thr4404=)
c.13388C= (p.Thr4463=)
c.13376C= (p.Thr4459=)
c.13733C= (p.Thr4578=)
c.13334C= (p.Thr4445=)
c.13322C= (p.Thr4441=)
c.13280C= (p.Thr4427=)
c.13256C= (p.Thr4419=)
c.13226C= (p.Thr4409=)
c.13403C= (p.Thr4468=)
c.13253C= (p.Thr4418=)
c.9953C= (p.Thr3318=)
8g.143916514G>TCA372475680PLECc.13439C>A (p.Thr4480Asn)
c.13358C>A (p.Thr4453Asn)
c.13025C>A (p.Thr4342Asn)
c.13238C>A (p.Thr4413Asn)
c.13307C>A (p.Thr4436Asn)
c.10007C>A (p.Thr3336Asn)
c.13718C>A (p.Thr4573Asn)
c.13241C>A (p.Thr4414Asn)
c.13265C>A (p.Thr4422Asn)
c.13319C>A (p.Thr4440Asn)
c.13211C>A (p.Thr4404Asn)
c.13388C>A (p.Thr4463Asn)
c.13376C>A (p.Thr4459Asn)
c.13733C>A (p.Thr4578Asn)
c.13334C>A (p.Thr4445Asn)
c.13322C>A (p.Thr4441Asn)
c.13280C>A (p.Thr4427Asn)
c.13256C>A (p.Thr4419Asn)
c.13226C>A (p.Thr4409Asn)
c.13403C>A (p.Thr4468Asn)
c.13253C>A (p.Thr4418Asn)
c.9953C>A (p.Thr3318Asn)
8g.143916515T>ACA372475682PLECc.13438A>T (p.Thr4480Ser)
c.13357A>T (p.Thr4453Ser)
c.13024A>T (p.Thr4342Ser)
c.13237A>T (p.Thr4413Ser)
c.13306A>T (p.Thr4436Ser)
c.10006A>T (p.Thr3336Ser)
c.13717A>T (p.Thr4573Ser)
c.13240A>T (p.Thr4414Ser)
c.13264A>T (p.Thr4422Ser)
c.13318A>T (p.Thr4440Ser)
c.13210A>T (p.Thr4404Ser)
c.13387A>T (p.Thr4463Ser)
c.13375A>T (p.Thr4459Ser)
c.13732A>T (p.Thr4578Ser)
c.13333A>T (p.Thr4445Ser)
c.13321A>T (p.Thr4441Ser)
c.13279A>T (p.Thr4427Ser)
c.13255A>T (p.Thr4419Ser)
c.13225A>T (p.Thr4409Ser)
c.13402A>T (p.Thr4468Ser)
c.13252A>T (p.Thr4418Ser)
c.9952A>T (p.Thr3318Ser)
8g.143916515T>CCA372475683PLECc.13438A>G (p.Thr4480Ala)
c.13357A>G (p.Thr4453Ala)
c.13024A>G (p.Thr4342Ala)
c.13237A>G (p.Thr4413Ala)
c.13306A>G (p.Thr4436Ala)
c.10006A>G (p.Thr3336Ala)
c.13717A>G (p.Thr4573Ala)
c.13240A>G (p.Thr4414Ala)
c.13264A>G (p.Thr4422Ala)
c.13318A>G (p.Thr4440Ala)
c.13210A>G (p.Thr4404Ala)
c.13387A>G (p.Thr4463Ala)
c.13375A>G (p.Thr4459Ala)
c.13732A>G (p.Thr4578Ala)
c.13333A>G (p.Thr4445Ala)
c.13321A>G (p.Thr4441Ala)
c.13279A>G (p.Thr4427Ala)
c.13255A>G (p.Thr4419Ala)
c.13225A>G (p.Thr4409Ala)
c.13402A>G (p.Thr4468Ala)
c.13252A>G (p.Thr4418Ala)
c.9952A>G (p.Thr3318Ala)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916515T>GCA372475681PLECc.13438A>C (p.Thr4480Pro)
c.13357A>C (p.Thr4453Pro)
c.13024A>C (p.Thr4342Pro)
c.13237A>C (p.Thr4413Pro)
c.13306A>C (p.Thr4436Pro)
c.10006A>C (p.Thr3336Pro)
c.13717A>C (p.Thr4573Pro)
c.13240A>C (p.Thr4414Pro)
c.13264A>C (p.Thr4422Pro)
c.13318A>C (p.Thr4440Pro)
c.13210A>C (p.Thr4404Pro)
c.13387A>C (p.Thr4463Pro)
c.13375A>C (p.Thr4459Pro)
c.13732A>C (p.Thr4578Pro)
c.13333A>C (p.Thr4445Pro)
c.13321A>C (p.Thr4441Pro)
c.13279A>C (p.Thr4427Pro)
c.13255A>C (p.Thr4419Pro)
c.13225A>C (p.Thr4409Pro)
c.13402A>C (p.Thr4468Pro)
c.13252A>C (p.Thr4418Pro)
c.9952A>C (p.Thr3318Pro)
8g.143916516G>ACA4923847PLECc.13437C>T (p.Leu4479=)
c.13356C>T (p.Leu4452=)
c.13023C>T (p.Leu4341=)
c.13236C>T (p.Leu4412=)
c.13305C>T (p.Leu4435=)
c.10005C>T (p.Leu3335=)
c.13716C>T (p.Leu4572=)
c.13239C>T (p.Leu4413=)
c.13263C>T (p.Leu4421=)
c.13317C>T (p.Leu4439=)
c.13209C>T (p.Leu4403=)
c.13386C>T (p.Leu4462=)
c.13374C>T (p.Leu4458=)
c.13731C>T (p.Leu4577=)
c.13332C>T (p.Leu4444=)
c.13320C>T (p.Leu4440=)
c.13278C>T (p.Leu4426=)
c.13254C>T (p.Leu4418=)
c.13224C>T (p.Leu4408=)
c.13401C>T (p.Leu4467=)
c.13251C>T (p.Leu4417=)
c.9951C>T (p.Leu3317=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143916516G>CCA463525651PLECc.13437C>G (p.Leu4479=)
c.13356C>G (p.Leu4452=)
c.13023C>G (p.Leu4341=)
c.13236C>G (p.Leu4412=)
c.13305C>G (p.Leu4435=)
c.10005C>G (p.Leu3335=)
c.13716C>G (p.Leu4572=)
c.13239C>G (p.Leu4413=)
c.13263C>G (p.Leu4421=)
c.13317C>G (p.Leu4439=)
c.13209C>G (p.Leu4403=)
c.13386C>G (p.Leu4462=)
c.13374C>G (p.Leu4458=)
c.13731C>G (p.Leu4577=)
c.13332C>G (p.Leu4444=)
c.13320C>G (p.Leu4440=)
c.13278C>G (p.Leu4426=)
c.13254C>G (p.Leu4418=)
c.13224C>G (p.Leu4408=)
c.13401C>G (p.Leu4467=)
c.13251C>G (p.Leu4417=)
c.9951C>G (p.Leu3317=)
8g.143916516G=CA1826037302PLECc.13437C= (p.Leu4479=)
c.13356C= (p.Leu4452=)
c.13023C= (p.Leu4341=)
c.13236C= (p.Leu4412=)
c.13305C= (p.Leu4435=)
c.10005C= (p.Leu3335=)
c.13716C= (p.Leu4572=)
c.13239C= (p.Leu4413=)
c.13263C= (p.Leu4421=)
c.13317C= (p.Leu4439=)
c.13209C= (p.Leu4403=)
c.13386C= (p.Leu4462=)
c.13374C= (p.Leu4458=)
c.13731C= (p.Leu4577=)
c.13332C= (p.Leu4444=)
c.13320C= (p.Leu4440=)
c.13278C= (p.Leu4426=)
c.13254C= (p.Leu4418=)
c.13224C= (p.Leu4408=)
c.13401C= (p.Leu4467=)
c.13251C= (p.Leu4417=)
c.9951C= (p.Leu3317=)
8g.143916516G>TCA463525652PLECc.13437C>A (p.Leu4479=)
c.13356C>A (p.Leu4452=)
c.13023C>A (p.Leu4341=)
c.13236C>A (p.Leu4412=)
c.13305C>A (p.Leu4435=)
c.10005C>A (p.Leu3335=)
c.13716C>A (p.Leu4572=)
c.13239C>A (p.Leu4413=)
c.13263C>A (p.Leu4421=)
c.13317C>A (p.Leu4439=)
c.13209C>A (p.Leu4403=)
c.13386C>A (p.Leu4462=)
c.13374C>A (p.Leu4458=)
c.13731C>A (p.Leu4577=)
c.13332C>A (p.Leu4444=)
c.13320C>A (p.Leu4440=)
c.13278C>A (p.Leu4426=)
c.13254C>A (p.Leu4418=)
c.13224C>A (p.Leu4408=)
c.13401C>A (p.Leu4467=)
c.13251C>A (p.Leu4417=)
c.9951C>A (p.Leu3317=)
8g.143916517A>CCA372475684PLECc.13436T>G (p.Leu4479Arg)
c.13355T>G (p.Leu4452Arg)
c.13022T>G (p.Leu4341Arg)
c.13235T>G (p.Leu4412Arg)
c.13304T>G (p.Leu4435Arg)
c.10004T>G (p.Leu3335Arg)
c.13715T>G (p.Leu4572Arg)
c.13238T>G (p.Leu4413Arg)
c.13262T>G (p.Leu4421Arg)
c.13316T>G (p.Leu4439Arg)
c.13208T>G (p.Leu4403Arg)
c.13385T>G (p.Leu4462Arg)
c.13373T>G (p.Leu4458Arg)
c.13730T>G (p.Leu4577Arg)
c.13331T>G (p.Leu4444Arg)
c.13319T>G (p.Leu4440Arg)
c.13277T>G (p.Leu4426Arg)
c.13253T>G (p.Leu4418Arg)
c.13223T>G (p.Leu4408Arg)
c.13400T>G (p.Leu4467Arg)
c.13250T>G (p.Leu4417Arg)
c.9950T>G (p.Leu3317Arg)
8g.143916517A>GCA372475685PLECc.13436T>C (p.Leu4479Pro)
c.13355T>C (p.Leu4452Pro)
c.13022T>C (p.Leu4341Pro)
c.13235T>C (p.Leu4412Pro)
c.13304T>C (p.Leu4435Pro)
c.10004T>C (p.Leu3335Pro)
c.13715T>C (p.Leu4572Pro)
c.13238T>C (p.Leu4413Pro)
c.13262T>C (p.Leu4421Pro)
c.13316T>C (p.Leu4439Pro)
c.13208T>C (p.Leu4403Pro)
c.13385T>C (p.Leu4462Pro)
c.13373T>C (p.Leu4458Pro)
c.13730T>C (p.Leu4577Pro)
c.13331T>C (p.Leu4444Pro)
c.13319T>C (p.Leu4440Pro)
c.13277T>C (p.Leu4426Pro)
c.13253T>C (p.Leu4418Pro)
c.13223T>C (p.Leu4408Pro)
c.13400T>C (p.Leu4467Pro)
c.13250T>C (p.Leu4417Pro)
c.9950T>C (p.Leu3317Pro)
8g.143916517A>TCA372475686PLECc.13436T>A (p.Leu4479His)
c.13355T>A (p.Leu4452His)
c.13022T>A (p.Leu4341His)
c.13235T>A (p.Leu4412His)
c.13304T>A (p.Leu4435His)
c.10004T>A (p.Leu3335His)
c.13715T>A (p.Leu4572His)
c.13238T>A (p.Leu4413His)
c.13262T>A (p.Leu4421His)
c.13316T>A (p.Leu4439His)
c.13208T>A (p.Leu4403His)
c.13385T>A (p.Leu4462His)
c.13373T>A (p.Leu4458His)
c.13730T>A (p.Leu4577His)
c.13331T>A (p.Leu4444His)
c.13319T>A (p.Leu4440His)
c.13277T>A (p.Leu4426His)
c.13253T>A (p.Leu4418His)
c.13223T>A (p.Leu4408His)
c.13400T>A (p.Leu4467His)
c.13250T>A (p.Leu4417His)
c.9950T>A (p.Leu3317His)
8g.143916518G>ACA372475687PLECc.13435C>T (p.Leu4479Phe)
c.13354C>T (p.Leu4452Phe)
c.13021C>T (p.Leu4341Phe)
c.13234C>T (p.Leu4412Phe)
c.13303C>T (p.Leu4435Phe)
c.10003C>T (p.Leu3335Phe)
c.13714C>T (p.Leu4572Phe)
c.13237C>T (p.Leu4413Phe)
c.13261C>T (p.Leu4421Phe)
c.13315C>T (p.Leu4439Phe)
c.13207C>T (p.Leu4403Phe)
c.13384C>T (p.Leu4462Phe)
c.13372C>T (p.Leu4458Phe)
c.13729C>T (p.Leu4577Phe)
c.13330C>T (p.Leu4444Phe)
c.13318C>T (p.Leu4440Phe)
c.13276C>T (p.Leu4426Phe)
c.13252C>T (p.Leu4418Phe)
c.13222C>T (p.Leu4408Phe)
c.13399C>T (p.Leu4467Phe)
c.13249C>T (p.Leu4417Phe)
c.9949C>T (p.Leu3317Phe)
8g.143916518G>CCA372475688PLECc.13435C>G (p.Leu4479Val)
c.13354C>G (p.Leu4452Val)
c.13021C>G (p.Leu4341Val)
c.13234C>G (p.Leu4412Val)
c.13303C>G (p.Leu4435Val)
c.10003C>G (p.Leu3335Val)
c.13714C>G (p.Leu4572Val)
c.13237C>G (p.Leu4413Val)
c.13261C>G (p.Leu4421Val)
c.13315C>G (p.Leu4439Val)
c.13207C>G (p.Leu4403Val)
c.13384C>G (p.Leu4462Val)
c.13372C>G (p.Leu4458Val)
c.13729C>G (p.Leu4577Val)
c.13330C>G (p.Leu4444Val)
c.13318C>G (p.Leu4440Val)
c.13276C>G (p.Leu4426Val)
c.13252C>G (p.Leu4418Val)
c.13222C>G (p.Leu4408Val)
c.13399C>G (p.Leu4467Val)
c.13249C>G (p.Leu4417Val)
c.9949C>G (p.Leu3317Val)
 dbSNP gnomAD v2 gnomAD v4
8g.143916518G=CA1826037306PLECc.13435C= (p.Leu4479=)
c.13354C= (p.Leu4452=)
c.13021C= (p.Leu4341=)
c.13234C= (p.Leu4412=)
c.13303C= (p.Leu4435=)
c.10003C= (p.Leu3335=)
c.13714C= (p.Leu4572=)
c.13237C= (p.Leu4413=)
c.13261C= (p.Leu4421=)
c.13315C= (p.Leu4439=)
c.13207C= (p.Leu4403=)
c.13384C= (p.Leu4462=)
c.13372C= (p.Leu4458=)
c.13729C= (p.Leu4577=)
c.13330C= (p.Leu4444=)
c.13318C= (p.Leu4440=)
c.13276C= (p.Leu4426=)
c.13252C= (p.Leu4418=)
c.13222C= (p.Leu4408=)
c.13399C= (p.Leu4467=)
c.13249C= (p.Leu4417=)
c.9949C= (p.Leu3317=)
8g.143916518G>TCA372475689PLECc.13435C>A (p.Leu4479Ile)
c.13354C>A (p.Leu4452Ile)
c.13021C>A (p.Leu4341Ile)
c.13234C>A (p.Leu4412Ile)
c.13303C>A (p.Leu4435Ile)
c.10003C>A (p.Leu3335Ile)
c.13714C>A (p.Leu4572Ile)
c.13237C>A (p.Leu4413Ile)
c.13261C>A (p.Leu4421Ile)
c.13315C>A (p.Leu4439Ile)
c.13207C>A (p.Leu4403Ile)
c.13384C>A (p.Leu4462Ile)
c.13372C>A (p.Leu4458Ile)
c.13729C>A (p.Leu4577Ile)
c.13330C>A (p.Leu4444Ile)
c.13318C>A (p.Leu4440Ile)
c.13276C>A (p.Leu4426Ile)
c.13252C>A (p.Leu4418Ile)
c.13222C>A (p.Leu4408Ile)
c.13399C>A (p.Leu4467Ile)
c.13249C>A (p.Leu4417Ile)
c.9949C>A (p.Leu3317Ile)
8g.143916519G>ACA463525655PLECc.13434C>T (p.Tyr4478=)
c.13353C>T (p.Tyr4451=)
c.13020C>T (p.Tyr4340=)
c.13233C>T (p.Tyr4411=)
c.13302C>T (p.Tyr4434=)
c.10002C>T (p.Tyr3334=)
c.13713C>T (p.Tyr4571=)
c.13236C>T (p.Tyr4412=)
c.13260C>T (p.Tyr4420=)
c.13314C>T (p.Tyr4438=)
c.13206C>T (p.Tyr4402=)
c.13383C>T (p.Tyr4461=)
c.13371C>T (p.Tyr4457=)
c.13728C>T (p.Tyr4576=)
c.13329C>T (p.Tyr4443=)
c.13317C>T (p.Tyr4439=)
c.13275C>T (p.Tyr4425=)
c.13251C>T (p.Tyr4417=)
c.13221C>T (p.Tyr4407=)
c.13398C>T (p.Tyr4466=)
c.13248C>T (p.Tyr4416=)
c.9948C>T (p.Tyr3316=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143916519G>CCA372475690PLECc.13434C>G (p.Tyr4478Ter)
c.13353C>G (p.Tyr4451Ter)
c.13020C>G (p.Tyr4340Ter)
c.13233C>G (p.Tyr4411Ter)
c.13302C>G (p.Tyr4434Ter)
c.10002C>G (p.Tyr3334Ter)
c.13713C>G (p.Tyr4571Ter)
c.13236C>G (p.Tyr4412Ter)
c.13260C>G (p.Tyr4420Ter)
c.13314C>G (p.Tyr4438Ter)
c.13206C>G (p.Tyr4402Ter)
c.13383C>G (p.Tyr4461Ter)
c.13371C>G (p.Tyr4457Ter)
c.13728C>G (p.Tyr4576Ter)
c.13329C>G (p.Tyr4443Ter)
c.13317C>G (p.Tyr4439Ter)
c.13275C>G (p.Tyr4425Ter)
c.13251C>G (p.Tyr4417Ter)
c.13221C>G (p.Tyr4407Ter)
c.13398C>G (p.Tyr4466Ter)
c.13248C>G (p.Tyr4416Ter)
c.9948C>G (p.Tyr3316Ter)
8g.143916519G=CA1826037308PLECc.13434C= (p.Tyr4478=)
c.13353C= (p.Tyr4451=)
c.13020C= (p.Tyr4340=)
c.13233C= (p.Tyr4411=)
c.13302C= (p.Tyr4434=)
c.10002C= (p.Tyr3334=)
c.13713C= (p.Tyr4571=)
c.13236C= (p.Tyr4412=)
c.13260C= (p.Tyr4420=)
c.13314C= (p.Tyr4438=)
c.13206C= (p.Tyr4402=)
c.13383C= (p.Tyr4461=)
c.13371C= (p.Tyr4457=)
c.13728C= (p.Tyr4576=)
c.13329C= (p.Tyr4443=)
c.13317C= (p.Tyr4439=)
c.13275C= (p.Tyr4425=)
c.13251C= (p.Tyr4417=)
c.13221C= (p.Tyr4407=)
c.13398C= (p.Tyr4466=)
c.13248C= (p.Tyr4416=)
c.9948C= (p.Tyr3316=)
8g.143916519G>TCA372475691PLECc.13434C>A (p.Tyr4478Ter)
c.13353C>A (p.Tyr4451Ter)
c.13020C>A (p.Tyr4340Ter)
c.13233C>A (p.Tyr4411Ter)
c.13302C>A (p.Tyr4434Ter)
c.10002C>A (p.Tyr3334Ter)
c.13713C>A (p.Tyr4571Ter)
c.13236C>A (p.Tyr4412Ter)
c.13260C>A (p.Tyr4420Ter)
c.13314C>A (p.Tyr4438Ter)
c.13206C>A (p.Tyr4402Ter)
c.13383C>A (p.Tyr4461Ter)
c.13371C>A (p.Tyr4457Ter)
c.13728C>A (p.Tyr4576Ter)
c.13329C>A (p.Tyr4443Ter)
c.13317C>A (p.Tyr4439Ter)
c.13275C>A (p.Tyr4425Ter)
c.13251C>A (p.Tyr4417Ter)
c.13221C>A (p.Tyr4407Ter)
c.13398C>A (p.Tyr4466Ter)
c.13248C>A (p.Tyr4416Ter)
c.9948C>A (p.Tyr3316Ter)
8g.143916520T>ACA372475692PLECc.13433A>T (p.Tyr4478Phe)
c.13352A>T (p.Tyr4451Phe)
c.13019A>T (p.Tyr4340Phe)
c.13232A>T (p.Tyr4411Phe)
c.13301A>T (p.Tyr4434Phe)
c.10001A>T (p.Tyr3334Phe)
c.13712A>T (p.Tyr4571Phe)
c.13235A>T (p.Tyr4412Phe)
c.13259A>T (p.Tyr4420Phe)
c.13313A>T (p.Tyr4438Phe)
c.13205A>T (p.Tyr4402Phe)
c.13382A>T (p.Tyr4461Phe)
c.13370A>T (p.Tyr4457Phe)
c.13727A>T (p.Tyr4576Phe)
c.13328A>T (p.Tyr4443Phe)
c.13316A>T (p.Tyr4439Phe)
c.13274A>T (p.Tyr4425Phe)
c.13250A>T (p.Tyr4417Phe)
c.13220A>T (p.Tyr4407Phe)
c.13397A>T (p.Tyr4466Phe)
c.13247A>T (p.Tyr4416Phe)
c.9947A>T (p.Tyr3316Phe)
 dbSNP
8g.143916520T>CCA372475693PLECc.13433A>G (p.Tyr4478Cys)
c.13352A>G (p.Tyr4451Cys)
c.13019A>G (p.Tyr4340Cys)
c.13232A>G (p.Tyr4411Cys)
c.13301A>G (p.Tyr4434Cys)
c.10001A>G (p.Tyr3334Cys)
c.13712A>G (p.Tyr4571Cys)
c.13235A>G (p.Tyr4412Cys)
c.13259A>G (p.Tyr4420Cys)
c.13313A>G (p.Tyr4438Cys)
c.13205A>G (p.Tyr4402Cys)
c.13382A>G (p.Tyr4461Cys)
c.13370A>G (p.Tyr4457Cys)
c.13727A>G (p.Tyr4576Cys)
c.13328A>G (p.Tyr4443Cys)
c.13316A>G (p.Tyr4439Cys)
c.13274A>G (p.Tyr4425Cys)
c.13250A>G (p.Tyr4417Cys)
c.13220A>G (p.Tyr4407Cys)
c.13397A>G (p.Tyr4466Cys)
c.13247A>G (p.Tyr4416Cys)
c.9947A>G (p.Tyr3316Cys)
8g.143916520T>GCA372475694PLECc.13433A>C (p.Tyr4478Ser)
c.13352A>C (p.Tyr4451Ser)
c.13019A>C (p.Tyr4340Ser)
c.13232A>C (p.Tyr4411Ser)
c.13301A>C (p.Tyr4434Ser)
c.10001A>C (p.Tyr3334Ser)
c.13712A>C (p.Tyr4571Ser)
c.13235A>C (p.Tyr4412Ser)
c.13259A>C (p.Tyr4420Ser)
c.13313A>C (p.Tyr4438Ser)
c.13205A>C (p.Tyr4402Ser)
c.13382A>C (p.Tyr4461Ser)
c.13370A>C (p.Tyr4457Ser)
c.13727A>C (p.Tyr4576Ser)
c.13328A>C (p.Tyr4443Ser)
c.13316A>C (p.Tyr4439Ser)
c.13274A>C (p.Tyr4425Ser)
c.13250A>C (p.Tyr4417Ser)
c.13220A>C (p.Tyr4407Ser)
c.13397A>C (p.Tyr4466Ser)
c.13247A>C (p.Tyr4416Ser)
c.9947A>C (p.Tyr3316Ser)
8g.143916520T=CA1826037310PLECc.13433A= (p.Tyr4478=)
c.13352A= (p.Tyr4451=)
c.13019A= (p.Tyr4340=)
c.13232A= (p.Tyr4411=)
c.13301A= (p.Tyr4434=)
c.10001A= (p.Tyr3334=)
c.13712A= (p.Tyr4571=)
c.13235A= (p.Tyr4412=)
c.13259A= (p.Tyr4420=)
c.13313A= (p.Tyr4438=)
c.13205A= (p.Tyr4402=)
c.13382A= (p.Tyr4461=)
c.13370A= (p.Tyr4457=)
c.13727A= (p.Tyr4576=)
c.13328A= (p.Tyr4443=)
c.13316A= (p.Tyr4439=)
c.13274A= (p.Tyr4425=)
c.13250A= (p.Tyr4417=)
c.13220A= (p.Tyr4407=)
c.13397A= (p.Tyr4466=)
c.13247A= (p.Tyr4416=)
c.9947A= (p.Tyr3316=)
8g.143916521A>CCA372475697PLECc.13432T>G (p.Tyr4478Asp)
c.13351T>G (p.Tyr4451Asp)
c.13018T>G (p.Tyr4340Asp)
c.13231T>G (p.Tyr4411Asp)
c.13300T>G (p.Tyr4434Asp)
c.10000T>G (p.Tyr3334Asp)
c.13711T>G (p.Tyr4571Asp)
c.13234T>G (p.Tyr4412Asp)
c.13258T>G (p.Tyr4420Asp)
c.13312T>G (p.Tyr4438Asp)
c.13204T>G (p.Tyr4402Asp)
c.13381T>G (p.Tyr4461Asp)
c.13369T>G (p.Tyr4457Asp)
c.13726T>G (p.Tyr4576Asp)
c.13327T>G (p.Tyr4443Asp)
c.13315T>G (p.Tyr4439Asp)
c.13273T>G (p.Tyr4425Asp)
c.13249T>G (p.Tyr4417Asp)
c.13219T>G (p.Tyr4407Asp)
c.13396T>G (p.Tyr4466Asp)
c.13246T>G (p.Tyr4416Asp)
c.9946T>G (p.Tyr3316Asp)
8g.143916521A>GCA372475695PLECc.13432T>C (p.Tyr4478His)
c.13351T>C (p.Tyr4451His)
c.13018T>C (p.Tyr4340His)
c.13231T>C (p.Tyr4411His)
c.13300T>C (p.Tyr4434His)
c.10000T>C (p.Tyr3334His)
c.13711T>C (p.Tyr4571His)
c.13234T>C (p.Tyr4412His)
c.13258T>C (p.Tyr4420His)
c.13312T>C (p.Tyr4438His)
c.13204T>C (p.Tyr4402His)
c.13381T>C (p.Tyr4461His)
c.13369T>C (p.Tyr4457His)
c.13726T>C (p.Tyr4576His)
c.13327T>C (p.Tyr4443His)
c.13315T>C (p.Tyr4439His)
c.13273T>C (p.Tyr4425His)
c.13249T>C (p.Tyr4417His)
c.13219T>C (p.Tyr4407His)
c.13396T>C (p.Tyr4466His)
c.13246T>C (p.Tyr4416His)
c.9946T>C (p.Tyr3316His)
 gnomAD v4
8g.143916521A>TCA372475696PLECc.13432T>A (p.Tyr4478Asn)
c.13351T>A (p.Tyr4451Asn)
c.13018T>A (p.Tyr4340Asn)
c.13231T>A (p.Tyr4411Asn)
c.13300T>A (p.Tyr4434Asn)
c.10000T>A (p.Tyr3334Asn)
c.13711T>A (p.Tyr4571Asn)
c.13234T>A (p.Tyr4412Asn)
c.13258T>A (p.Tyr4420Asn)
c.13312T>A (p.Tyr4438Asn)
c.13204T>A (p.Tyr4402Asn)
c.13381T>A (p.Tyr4461Asn)
c.13369T>A (p.Tyr4457Asn)
c.13726T>A (p.Tyr4576Asn)
c.13327T>A (p.Tyr4443Asn)
c.13315T>A (p.Tyr4439Asn)
c.13273T>A (p.Tyr4425Asn)
c.13249T>A (p.Tyr4417Asn)
c.13219T>A (p.Tyr4407Asn)
c.13396T>A (p.Tyr4466Asn)
c.13246T>A (p.Tyr4416Asn)
c.9946T>A (p.Tyr3316Asn)
8g.143916522C>ACA372475698PLECc.13431G>T (p.Lys4477Asn)
c.13350G>T (p.Lys4450Asn)
c.13017G>T (p.Lys4339Asn)
c.13230G>T (p.Lys4410Asn)
c.13299G>T (p.Lys4433Asn)
c.9999G>T (p.Lys3333Asn)
c.13710G>T (p.Lys4570Asn)
c.13233G>T (p.Lys4411Asn)
c.13257G>T (p.Lys4419Asn)
c.13311G>T (p.Lys4437Asn)
c.13203G>T (p.Lys4401Asn)
c.13380G>T (p.Lys4460Asn)
c.13368G>T (p.Lys4456Asn)
c.13725G>T (p.Lys4575Asn)
c.13326G>T (p.Lys4442Asn)
c.13314G>T (p.Lys4438Asn)
c.13272G>T (p.Lys4424Asn)
c.13248G>T (p.Lys4416Asn)
c.13218G>T (p.Lys4406Asn)
c.13395G>T (p.Lys4465Asn)
c.13245G>T (p.Lys4415Asn)
c.9945G>T (p.Lys3315Asn)
8g.143916522C=CA1826037313PLECc.13431G= (p.Lys4477=)
c.13350G= (p.Lys4450=)
c.13017G= (p.Lys4339=)
c.13230G= (p.Lys4410=)
c.13299G= (p.Lys4433=)
c.9999G= (p.Lys3333=)
c.13710G= (p.Lys4570=)
c.13233G= (p.Lys4411=)
c.13257G= (p.Lys4419=)
c.13311G= (p.Lys4437=)
c.13203G= (p.Lys4401=)
c.13380G= (p.Lys4460=)
c.13368G= (p.Lys4456=)
c.13725G= (p.Lys4575=)
c.13326G= (p.Lys4442=)
c.13314G= (p.Lys4438=)
c.13272G= (p.Lys4424=)
c.13248G= (p.Lys4416=)
c.13218G= (p.Lys4406=)
c.13395G= (p.Lys4465=)
c.13245G= (p.Lys4415=)
c.9945G= (p.Lys3315=)
8g.143916522C>GCA372475699PLECc.13431G>C (p.Lys4477Asn)
c.13350G>C (p.Lys4450Asn)
c.13017G>C (p.Lys4339Asn)
c.13230G>C (p.Lys4410Asn)
c.13299G>C (p.Lys4433Asn)
c.9999G>C (p.Lys3333Asn)
c.13710G>C (p.Lys4570Asn)
c.13233G>C (p.Lys4411Asn)
c.13257G>C (p.Lys4419Asn)
c.13311G>C (p.Lys4437Asn)
c.13203G>C (p.Lys4401Asn)
c.13380G>C (p.Lys4460Asn)
c.13368G>C (p.Lys4456Asn)
c.13725G>C (p.Lys4575Asn)
c.13326G>C (p.Lys4442Asn)
c.13314G>C (p.Lys4438Asn)
c.13272G>C (p.Lys4424Asn)
c.13248G>C (p.Lys4416Asn)
c.13218G>C (p.Lys4406Asn)
c.13395G>C (p.Lys4465Asn)
c.13245G>C (p.Lys4415Asn)
c.9945G>C (p.Lys3315Asn)
8g.143916522C>TCA463525658PLECc.13431G>A (p.Lys4477=)
c.13350G>A (p.Lys4450=)
c.13017G>A (p.Lys4339=)
c.13230G>A (p.Lys4410=)
c.13299G>A (p.Lys4433=)
c.9999G>A (p.Lys3333=)
c.13710G>A (p.Lys4570=)
c.13233G>A (p.Lys4411=)
c.13257G>A (p.Lys4419=)
c.13311G>A (p.Lys4437=)
c.13203G>A (p.Lys4401=)
c.13380G>A (p.Lys4460=)
c.13368G>A (p.Lys4456=)
c.13725G>A (p.Lys4575=)
c.13326G>A (p.Lys4442=)
c.13314G>A (p.Lys4438=)
c.13272G>A (p.Lys4424=)
c.13248G>A (p.Lys4416=)
c.13218G>A (p.Lys4406=)
c.13395G>A (p.Lys4465=)
c.13245G>A (p.Lys4415=)
c.9945G>A (p.Lys3315=)
 dbSNP gnomAD v2 gnomAD v4
8g.143916523T>ACA372475700PLECc.13430A>T (p.Lys4477Met)
c.13349A>T (p.Lys4450Met)
c.13016A>T (p.Lys4339Met)
c.13229A>T (p.Lys4410Met)
c.13298A>T (p.Lys4433Met)
c.9998A>T (p.Lys3333Met)
c.13709A>T (p.Lys4570Met)
c.13232A>T (p.Lys4411Met)
c.13256A>T (p.Lys4419Met)
c.13310A>T (p.Lys4437Met)
c.13202A>T (p.Lys4401Met)
c.13379A>T (p.Lys4460Met)
c.13367A>T (p.Lys4456Met)
c.13724A>T (p.Lys4575Met)
c.13325A>T (p.Lys4442Met)
c.13313A>T (p.Lys4438Met)
c.13271A>T (p.Lys4424Met)
c.13247A>T (p.Lys4416Met)
c.13217A>T (p.Lys4406Met)
c.13394A>T (p.Lys4465Met)
c.13244A>T (p.Lys4415Met)
c.9944A>T (p.Lys3315Met)
8g.143916523T>CCA187606593PLECc.13430A>G (p.Lys4477Arg)
c.13349A>G (p.Lys4450Arg)
c.13016A>G (p.Lys4339Arg)
c.13229A>G (p.Lys4410Arg)
c.13298A>G (p.Lys4433Arg)
c.9998A>G (p.Lys3333Arg)
c.13709A>G (p.Lys4570Arg)
c.13232A>G (p.Lys4411Arg)
c.13256A>G (p.Lys4419Arg)
c.13310A>G (p.Lys4437Arg)
c.13202A>G (p.Lys4401Arg)
c.13379A>G (p.Lys4460Arg)
c.13367A>G (p.Lys4456Arg)
c.13724A>G (p.Lys4575Arg)
c.13325A>G (p.Lys4442Arg)
c.13313A>G (p.Lys4438Arg)
c.13271A>G (p.Lys4424Arg)
c.13247A>G (p.Lys4416Arg)
c.13217A>G (p.Lys4406Arg)
c.13394A>G (p.Lys4465Arg)
c.13244A>G (p.Lys4415Arg)
c.9944A>G (p.Lys3315Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.143916523T>GCA372475701PLECc.13430A>C (p.Lys4477Thr)
c.13349A>C (p.Lys4450Thr)
c.13016A>C (p.Lys4339Thr)
c.13229A>C (p.Lys4410Thr)
c.13298A>C (p.Lys4433Thr)
c.9998A>C (p.Lys3333Thr)
c.13709A>C (p.Lys4570Thr)
c.13232A>C (p.Lys4411Thr)
c.13256A>C (p.Lys4419Thr)
c.13310A>C (p.Lys4437Thr)
c.13202A>C (p.Lys4401Thr)
c.13379A>C (p.Lys4460Thr)
c.13367A>C (p.Lys4456Thr)
c.13724A>C (p.Lys4575Thr)
c.13325A>C (p.Lys4442Thr)
c.13313A>C (p.Lys4438Thr)
c.13271A>C (p.Lys4424Thr)
c.13247A>C (p.Lys4416Thr)
c.13217A>C (p.Lys4406Thr)
c.13394A>C (p.Lys4465Thr)
c.13244A>C (p.Lys4415Thr)
c.9944A>C (p.Lys3315Thr)
8g.143916523T=CA1826037315PLECc.13430A= (p.Lys4477=)
c.13349A= (p.Lys4450=)
c.13016A= (p.Lys4339=)
c.13229A= (p.Lys4410=)
c.13298A= (p.Lys4433=)
c.9998A= (p.Lys3333=)
c.13709A= (p.Lys4570=)
c.13232A= (p.Lys4411=)
c.13256A= (p.Lys4419=)
c.13310A= (p.Lys4437=)
c.13202A= (p.Lys4401=)
c.13379A= (p.Lys4460=)
c.13367A= (p.Lys4456=)
c.13724A= (p.Lys4575=)
c.13325A= (p.Lys4442=)
c.13313A= (p.Lys4438=)
c.13271A= (p.Lys4424=)
c.13247A= (p.Lys4416=)
c.13217A= (p.Lys4406=)
c.13394A= (p.Lys4465=)
c.13244A= (p.Lys4415=)
c.9944A= (p.Lys3315=)
8g.143916524T>ACA249137PLECc.13429A>T (p.Lys4477Ter)
c.13348A>T (p.Lys4450Ter)
c.13015A>T (p.Lys4339Ter)
c.13228A>T (p.Lys4410Ter)
c.13297A>T (p.Lys4433Ter)
c.9997A>T (p.Lys3333Ter)
c.13708A>T (p.Lys4570Ter)
c.13231A>T (p.Lys4411Ter)
c.13255A>T (p.Lys4419Ter)
c.13309A>T (p.Lys4437Ter)
c.13201A>T (p.Lys4401Ter)
c.13378A>T (p.Lys4460Ter)
c.13366A>T (p.Lys4456Ter)
c.13723A>T (p.Lys4575Ter)
c.13324A>T (p.Lys4442Ter)
c.13312A>T (p.Lys4438Ter)
c.13270A>T (p.Lys4424Ter)
c.13246A>T (p.Lys4416Ter)
c.13216A>T (p.Lys4406Ter)
c.13393A>T (p.Lys4465Ter)
c.13243A>T (p.Lys4415Ter)
c.9943A>T (p.Lys3315Ter)
 ClinVar dbSNP
8g.143916524T>CCA372475702PLECc.13429A>G (p.Lys4477Glu)
c.13348A>G (p.Lys4450Glu)
c.13015A>G (p.Lys4339Glu)
c.13228A>G (p.Lys4410Glu)
c.13297A>G (p.Lys4433Glu)
c.9997A>G (p.Lys3333Glu)
c.13708A>G (p.Lys4570Glu)
c.13231A>G (p.Lys4411Glu)
c.13255A>G (p.Lys4419Glu)
c.13309A>G (p.Lys4437Glu)
c.13201A>G (p.Lys4401Glu)
c.13378A>G (p.Lys4460Glu)
c.13366A>G (p.Lys4456Glu)
c.13723A>G (p.Lys4575Glu)
c.13324A>G (p.Lys4442Glu)
c.13312A>G (p.Lys4438Glu)
c.13270A>G (p.Lys4424Glu)
c.13246A>G (p.Lys4416Glu)
c.13216A>G (p.Lys4406Glu)
c.13393A>G (p.Lys4465Glu)
c.13243A>G (p.Lys4415Glu)
c.9943A>G (p.Lys3315Glu)
8g.143916524T>GCA372475703PLECc.13429A>C (p.Lys4477Gln)
c.13348A>C (p.Lys4450Gln)
c.13015A>C (p.Lys4339Gln)
c.13228A>C (p.Lys4410Gln)
c.13297A>C (p.Lys4433Gln)
c.9997A>C (p.Lys3333Gln)
c.13708A>C (p.Lys4570Gln)
c.13231A>C (p.Lys4411Gln)
c.13255A>C (p.Lys4419Gln)
c.13309A>C (p.Lys4437Gln)
c.13201A>C (p.Lys4401Gln)
c.13378A>C (p.Lys4460Gln)
c.13366A>C (p.Lys4456Gln)
c.13723A>C (p.Lys4575Gln)
c.13324A>C (p.Lys4442Gln)
c.13312A>C (p.Lys4438Gln)
c.13270A>C (p.Lys4424Gln)
c.13246A>C (p.Lys4416Gln)
c.13216A>C (p.Lys4406Gln)
c.13393A>C (p.Lys4465Gln)
c.13243A>C (p.Lys4415Gln)
c.9943A>C (p.Lys3315Gln)
8g.143916524T=CA1826037318PLECc.13429A= (p.Lys4477=)
c.13348A= (p.Lys4450=)
c.13015A= (p.Lys4339=)
c.13228A= (p.Lys4410=)
c.13297A= (p.Lys4433=)
c.9997A= (p.Lys3333=)
c.13708A= (p.Lys4570=)
c.13231A= (p.Lys4411=)
c.13255A= (p.Lys4419=)
c.13309A= (p.Lys4437=)
c.13201A= (p.Lys4401=)
c.13378A= (p.Lys4460=)
c.13366A= (p.Lys4456=)
c.13723A= (p.Lys4575=)
c.13324A= (p.Lys4442=)
c.13312A= (p.Lys4438=)
c.13270A= (p.Lys4424=)
c.13246A= (p.Lys4416=)
c.13216A= (p.Lys4406=)
c.13393A= (p.Lys4465=)
c.13243A= (p.Lys4415=)
c.9943A= (p.Lys3315=)
8g.143916525G>ACA4923848PLECc.13428C>T (p.Ser4476=)
c.13347C>T (p.Ser4449=)
c.13014C>T (p.Ser4338=)
c.13227C>T (p.Ser4409=)
c.13296C>T (p.Ser4432=)
c.9996C>T (p.Ser3332=)
c.13707C>T (p.Ser4569=)
c.13230C>T (p.Ser4410=)
c.13254C>T (p.Ser4418=)
c.13308C>T (p.Ser4436=)
c.13200C>T (p.Ser4400=)
c.13377C>T (p.Ser4459=)
c.13365C>T (p.Ser4455=)
c.13722C>T (p.Ser4574=)
c.13323C>T (p.Ser4441=)
c.13311C>T (p.Ser4437=)
c.13269C>T (p.Ser4423=)
c.13245C>T (p.Ser4415=)
c.13215C>T (p.Ser4405=)
c.13392C>T (p.Ser4464=)
c.13242C>T (p.Ser4414=)
c.9942C>T (p.Ser3314=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.143916525G>CCA463525662PLECc.13428C>G (p.Ser4476=)
c.13347C>G (p.Ser4449=)
c.13014C>G (p.Ser4338=)
c.13227C>G (p.Ser4409=)
c.13296C>G (p.Ser4432=)
c.9996C>G (p.Ser3332=)
c.13707C>G (p.Ser4569=)
c.13230C>G (p.Ser4410=)
c.13254C>G (p.Ser4418=)
c.13308C>G (p.Ser4436=)
c.13200C>G (p.Ser4400=)
c.13377C>G (p.Ser4459=)
c.13365C>G (p.Ser4455=)
c.13722C>G (p.Ser4574=)
c.13323C>G (p.Ser4441=)
c.13311C>G (p.Ser4437=)
c.13269C>G (p.Ser4423=)
c.13245C>G (p.Ser4415=)
c.13215C>G (p.Ser4405=)
c.13392C>G (p.Ser4464=)
c.13242C>G (p.Ser4414=)
c.9942C>G (p.Ser3314=)
 dbSNP gnomAD v4
8g.143916525G=CA1826037323PLECc.13428C= (p.Ser4476=)
c.13347C= (p.Ser4449=)
c.13014C= (p.Ser4338=)
c.13227C= (p.Ser4409=)
c.13296C= (p.Ser4432=)
c.9996C= (p.Ser3332=)
c.13707C= (p.Ser4569=)
c.13230C= (p.Ser4410=)
c.13254C= (p.Ser4418=)
c.13308C= (p.Ser4436=)
c.13200C= (p.Ser4400=)
c.13377C= (p.Ser4459=)
c.13365C= (p.Ser4455=)
c.13722C= (p.Ser4574=)
c.13323C= (p.Ser4441=)
c.13311C= (p.Ser4437=)
c.13269C= (p.Ser4423=)
c.13245C= (p.Ser4415=)
c.13215C= (p.Ser4405=)
c.13392C= (p.Ser4464=)
c.13242C= (p.Ser4414=)
c.9942C= (p.Ser3314=)
8g.143916525G>TCA463525664PLECc.13428C>A (p.Ser4476=)
c.13347C>A (p.Ser4449=)
c.13014C>A (p.Ser4338=)
c.13227C>A (p.Ser4409=)
c.13296C>A (p.Ser4432=)
c.9996C>A (p.Ser3332=)
c.13707C>A (p.Ser4569=)
c.13230C>A (p.Ser4410=)
c.13254C>A (p.Ser4418=)
c.13308C>A (p.Ser4436=)
c.13200C>A (p.Ser4400=)
c.13377C>A (p.Ser4459=)
c.13365C>A (p.Ser4455=)
c.13722C>A (p.Ser4574=)
c.13323C>A (p.Ser4441=)
c.13311C>A (p.Ser4437=)
c.13269C>A (p.Ser4423=)
c.13245C>A (p.Ser4415=)
c.13215C>A (p.Ser4405=)
c.13392C>A (p.Ser4464=)
c.13242C>A (p.Ser4414=)
c.9942C>A (p.Ser3314=)
8g.143916526G>ACA372475704PLECc.13427C>T (p.Ser4476Phe)
c.13346C>T (p.Ser4449Phe)
c.13013C>T (p.Ser4338Phe)
c.13226C>T (p.Ser4409Phe)
c.13295C>T (p.Ser4432Phe)
c.9995C>T (p.Ser3332Phe)
c.13706C>T (p.Ser4569Phe)
c.13229C>T (p.Ser4410Phe)
c.13253C>T (p.Ser4418Phe)
c.13307C>T (p.Ser4436Phe)
c.13199C>T (p.Ser4400Phe)
c.13376C>T (p.Ser4459Phe)
c.13364C>T (p.Ser4455Phe)
c.13721C>T (p.Ser4574Phe)
c.13322C>T (p.Ser4441Phe)
c.13310C>T (p.Ser4437Phe)
c.13268C>T (p.Ser4423Phe)
c.13244C>T (p.Ser4415Phe)
c.13214C>T (p.Ser4405Phe)
c.13391C>T (p.Ser4464Phe)
c.13241C>T (p.Ser4414Phe)
c.9941C>T (p.Ser3314Phe)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
8g.143916526G>CCA372475705PLECc.13427C>G (p.Ser4476Cys)
c.13346C>G (p.Ser4449Cys)
c.13013C>G (p.Ser4338Cys)
c.13226C>G (p.Ser4409Cys)
c.13295C>G (p.Ser4432Cys)
c.9995C>G (p.Ser3332Cys)
c.13706C>G (p.Ser4569Cys)
c.13229C>G (p.Ser4410Cys)
c.13253C>G (p.Ser4418Cys)
c.13307C>G (p.Ser4436Cys)
c.13199C>G (p.Ser4400Cys)
c.13376C>G (p.Ser4459Cys)
c.13364C>G (p.Ser4455Cys)
c.13721C>G (p.Ser4574Cys)
c.13322C>G (p.Ser4441Cys)
c.13310C>G (p.Ser4437Cys)
c.13268C>G (p.Ser4423Cys)
c.13244C>G (p.Ser4415Cys)
c.13214C>G (p.Ser4405Cys)
c.13391C>G (p.Ser4464Cys)
c.13241C>G (p.Ser4414Cys)
c.9941C>G (p.Ser3314Cys)
8g.143916526G>TCA372475706PLECc.13427C>A (p.Ser4476Tyr)
c.13346C>A (p.Ser4449Tyr)
c.13013C>A (p.Ser4338Tyr)
c.13226C>A (p.Ser4409Tyr)
c.13295C>A (p.Ser4432Tyr)
c.9995C>A (p.Ser3332Tyr)
c.13706C>A (p.Ser4569Tyr)
c.13229C>A (p.Ser4410Tyr)
c.13253C>A (p.Ser4418Tyr)
c.13307C>A (p.Ser4436Tyr)
c.13199C>A (p.Ser4400Tyr)
c.13376C>A (p.Ser4459Tyr)
c.13364C>A (p.Ser4455Tyr)
c.13721C>A (p.Ser4574Tyr)
c.13322C>A (p.Ser4441Tyr)
c.13310C>A (p.Ser4437Tyr)
c.13268C>A (p.Ser4423Tyr)
c.13244C>A (p.Ser4415Tyr)
c.13214C>A (p.Ser4405Tyr)
c.13391C>A (p.Ser4464Tyr)
c.13241C>A (p.Ser4414Tyr)
c.9941C>A (p.Ser3314Tyr)
8g.143916527A>CCA372475708PLECc.13426T>G (p.Ser4476Ala)
c.13345T>G (p.Ser4449Ala)
c.13012T>G (p.Ser4338Ala)
c.13225T>G (p.Ser4409Ala)
c.13294T>G (p.Ser4432Ala)
c.9994T>G (p.Ser3332Ala)
c.13705T>G (p.Ser4569Ala)
c.13228T>G (p.Ser4410Ala)
c.13252T>G (p.Ser4418Ala)
c.13306T>G (p.Ser4436Ala)
c.13198T>G (p.Ser4400Ala)
c.13375T>G (p.Ser4459Ala)
c.13363T>G (p.Ser4455Ala)
c.13720T>G (p.Ser4574Ala)
c.13321T>G (p.Ser4441Ala)
c.13309T>G (p.Ser4437Ala)
c.13267T>G (p.Ser4423Ala)
c.13243T>G (p.Ser4415Ala)
c.13213T>G (p.Ser4405Ala)
c.13390T>G (p.Ser4464Ala)
c.13240T>G (p.Ser4414Ala)
c.9940T>G (p.Ser3314Ala)
8g.143916527A>GCA372475709PLECc.13426T>C (p.Ser4476Pro)
c.13345T>C (p.Ser4449Pro)
c.13012T>C (p.Ser4338Pro)
c.13225T>C (p.Ser4409Pro)
c.13294T>C (p.Ser4432Pro)
c.9994T>C (p.Ser3332Pro)
c.13705T>C (p.Ser4569Pro)
c.13228T>C (p.Ser4410Pro)
c.13252T>C (p.Ser4418Pro)
c.13306T>C (p.Ser4436Pro)
c.13198T>C (p.Ser4400Pro)
c.13375T>C (p.Ser4459Pro)
c.13363T>C (p.Ser4455Pro)
c.13720T>C (p.Ser4574Pro)
c.13321T>C (p.Ser4441Pro)
c.13309T>C (p.Ser4437Pro)
c.13267T>C (p.Ser4423Pro)
c.13243T>C (p.Ser4415Pro)
c.13213T>C (p.Ser4405Pro)
c.13390T>C (p.Ser4464Pro)
c.13240T>C (p.Ser4414Pro)
c.9940T>C (p.Ser3314Pro)
8g.143916527A>TCA372475707PLECc.13426T>A (p.Ser4476Thr)
c.13345T>A (p.Ser4449Thr)
c.13012T>A (p.Ser4338Thr)
c.13225T>A (p.Ser4409Thr)
c.13294T>A (p.Ser4432Thr)
c.9994T>A (p.Ser3332Thr)
c.13705T>A (p.Ser4569Thr)
c.13228T>A (p.Ser4410Thr)
c.13252T>A (p.Ser4418Thr)
c.13306T>A (p.Ser4436Thr)
c.13198T>A (p.Ser4400Thr)
c.13375T>A (p.Ser4459Thr)
c.13363T>A (p.Ser4455Thr)
c.13720T>A (p.Ser4574Thr)
c.13321T>A (p.Ser4441Thr)
c.13309T>A (p.Ser4437Thr)
c.13267T>A (p.Ser4423Thr)
c.13243T>A (p.Ser4415Thr)
c.13213T>A (p.Ser4405Thr)
c.13390T>A (p.Ser4464Thr)
c.13240T>A (p.Ser4414Thr)
c.9940T>A (p.Ser3314Thr)
8g.143916528G>ACA463525667PLECc.13425C>T (p.Tyr4475=)
c.13344C>T (p.Tyr4448=)
c.13011C>T (p.Tyr4337=)
c.13224C>T (p.Tyr4408=)
c.13293C>T (p.Tyr4431=)
c.9993C>T (p.Tyr3331=)
c.13704C>T (p.Tyr4568=)
c.13227C>T (p.Tyr4409=)
c.13251C>T (p.Tyr4417=)
c.13305C>T (p.Tyr4435=)
c.13197C>T (p.Tyr4399=)
c.13374C>T (p.Tyr4458=)
c.13362C>T (p.Tyr4454=)
c.13719C>T (p.Tyr4573=)
c.13320C>T (p.Tyr4440=)
c.13308C>T (p.Tyr4436=)
c.13266C>T (p.Tyr4422=)
c.13242C>T (p.Tyr4414=)
c.13212C>T (p.Tyr4404=)
c.13389C>T (p.Tyr4463=)
c.13239C>T (p.Tyr4413=)
c.9939C>T (p.Tyr3313=)
 dbSNP gnomAD v4
8g.143916528G>CCA372475710PLECc.13425C>G (p.Tyr4475Ter)
c.13344C>G (p.Tyr4448Ter)
c.13011C>G (p.Tyr4337Ter)
c.13224C>G (p.Tyr4408Ter)
c.13293C>G (p.Tyr4431Ter)
c.9993C>G (p.Tyr3331Ter)
c.13704C>G (p.Tyr4568Ter)
c.13227C>G (p.Tyr4409Ter)
c.13251C>G (p.Tyr4417Ter)
c.13305C>G (p.Tyr4435Ter)
c.13197C>G (p.Tyr4399Ter)
c.13374C>G (p.Tyr4458Ter)
c.13362C>G (p.Tyr4454Ter)
c.13719C>G (p.Tyr4573Ter)
c.13320C>G (p.Tyr4440Ter)
c.13308C>G (p.Tyr4436Ter)
c.13266C>G (p.Tyr4422Ter)
c.13242C>G (p.Tyr4414Ter)
c.13212C>G (p.Tyr4404Ter)
c.13389C>G (p.Tyr4463Ter)
c.13239C>G (p.Tyr4413Ter)
c.9939C>G (p.Tyr3313Ter)
8g.143916528G>TCA372475711PLECc.13425C>A (p.Tyr4475Ter)
c.13344C>A (p.Tyr4448Ter)
c.13011C>A (p.Tyr4337Ter)
c.13224C>A (p.Tyr4408Ter)
c.13293C>A (p.Tyr4431Ter)
c.9993C>A (p.Tyr3331Ter)
c.13704C>A (p.Tyr4568Ter)
c.13227C>A (p.Tyr4409Ter)
c.13251C>A (p.Tyr4417Ter)
c.13305C>A (p.Tyr4435Ter)
c.13197C>A (p.Tyr4399Ter)
c.13374C>A (p.Tyr4458Ter)
c.13362C>A (p.Tyr4454Ter)
c.13719C>A (p.Tyr4573Ter)
c.13320C>A (p.Tyr4440Ter)
c.13308C>A (p.Tyr4436Ter)
c.13266C>A (p.Tyr4422Ter)
c.13242C>A (p.Tyr4414Ter)
c.13212C>A (p.Tyr4404Ter)
c.13389C>A (p.Tyr4463Ter)
c.13239C>A (p.Tyr4413Ter)
c.9939C>A (p.Tyr3313Ter)
8g.143916529T>ACA372475712PLECc.13424A>T (p.Tyr4475Phe)
c.13343A>T (p.Tyr4448Phe)
c.13010A>T (p.Tyr4337Phe)
c.13223A>T (p.Tyr4408Phe)
c.13292A>T (p.Tyr4431Phe)
c.9992A>T (p.Tyr3331Phe)
c.13703A>T (p.Tyr4568Phe)
c.13226A>T (p.Tyr4409Phe)
c.13250A>T (p.Tyr4417Phe)
c.13304A>T (p.Tyr4435Phe)
c.13196A>T (p.Tyr4399Phe)
c.13373A>T (p.Tyr4458Phe)
c.13361A>T (p.Tyr4454Phe)
c.13718A>T (p.Tyr4573Phe)
c.13319A>T (p.Tyr4440Phe)
c.13307A>T (p.Tyr4436Phe)
c.13265A>T (p.Tyr4422Phe)
c.13241A>T (p.Tyr4414Phe)
c.13211A>T (p.Tyr4404Phe)
c.13388A>T (p.Tyr4463Phe)
c.13238A>T (p.Tyr4413Phe)
c.9938A>T (p.Tyr3313Phe)
 gnomAD v4
8g.143916529T>CCA372475713PLECc.13424A>G (p.Tyr4475Cys)
c.13343A>G (p.Tyr4448Cys)
c.13010A>G (p.Tyr4337Cys)
c.13223A>G (p.Tyr4408Cys)
c.13292A>G (p.Tyr4431Cys)
c.9992A>G (p.Tyr3331Cys)
c.13703A>G (p.Tyr4568Cys)
c.13226A>G (p.Tyr4409Cys)
c.13250A>G (p.Tyr4417Cys)
c.13304A>G (p.Tyr4435Cys)
c.13196A>G (p.Tyr4399Cys)
c.13373A>G (p.Tyr4458Cys)
c.13361A>G (p.Tyr4454Cys)
c.13718A>G (p.Tyr4573Cys)
c.13319A>G (p.Tyr4440Cys)
c.13307A>G (p.Tyr4436Cys)
c.13265A>G (p.Tyr4422Cys)
c.13241A>G (p.Tyr4414Cys)
c.13211A>G (p.Tyr4404Cys)
c.13388A>G (p.Tyr4463Cys)
c.13238A>G (p.Tyr4413Cys)
c.9938A>G (p.Tyr3313Cys)
8g.143916529T>GCA372475714PLECc.13424A>C (p.Tyr4475Ser)
c.13343A>C (p.Tyr4448Ser)
c.13010A>C (p.Tyr4337Ser)
c.13223A>C (p.Tyr4408Ser)
c.13292A>C (p.Tyr4431Ser)
c.9992A>C (p.Tyr3331Ser)
c.13703A>C (p.Tyr4568Ser)
c.13226A>C (p.Tyr4409Ser)
c.13250A>C (p.Tyr4417Ser)
c.13304A>C (p.Tyr4435Ser)
c.13196A>C (p.Tyr4399Ser)
c.13373A>C (p.Tyr4458Ser)
c.13361A>C (p.Tyr4454Ser)
c.13718A>C (p.Tyr4573Ser)
c.13319A>C (p.Tyr4440Ser)
c.13307A>C (p.Tyr4436Ser)
c.13265A>C (p.Tyr4422Ser)
c.13241A>C (p.Tyr4414Ser)
c.13211A>C (p.Tyr4404Ser)
c.13388A>C (p.Tyr4463Ser)
c.13238A>C (p.Tyr4413Ser)
c.9938A>C (p.Tyr3313Ser)
 gnomAD v4
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

Number of alleles fetched