Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.143916448_143916459del | CA2605510060 | PLEC | c.13494_13505del (p.Met4498_Gly4502delinsIle) c.13413_13424del (p.Met4471_Gly4475delinsIle) c.13080_13091del (p.Met4360_Gly4364delinsIle) c.13293_13304del (p.Met4431_Gly4435delinsIle) c.13362_13373del (p.Met4454_Gly4458delinsIle) c.10062_10073del (p.Met3354_Gly3358delinsIle) c.13773_13784del (p.Met4591_Gly4595delinsIle) c.13296_13307del (p.Met4432_Gly4436delinsIle) c.13320_13331del (p.Met4440_Gly4444delinsIle) c.13374_13385del (p.Met4458_Gly4462delinsIle) c.13266_13277del (p.Met4422_Gly4426delinsIle) c.13443_13454del (p.Met4481_Gly4485delinsIle) c.13431_13442del (p.Met4477_Gly4481delinsIle) c.13788_13799del (p.Met4596_Gly4600delinsIle) c.13389_13400del (p.Met4463_Gly4467delinsIle) c.13377_13388del (p.Met4459_Gly4463delinsIle) c.13335_13346del (p.Met4445_Gly4449delinsIle) c.13311_13322del (p.Met4437_Gly4441delinsIle) c.13281_13292del (p.Met4427_Gly4431delinsIle) c.13458_13469del (p.Met4486_Gly4490delinsIle) c.13308_13319del (p.Met4436_Gly4440delinsIle) c.10008_10019del (p.Met3336_Gly3340delinsIle) | gnomAD v3 gnomAD v4 |
8 | g.143916454_143916456del | CA586158204 | PLEC | c.13502_13504del (p.Glu4501del) c.13421_13423del (p.Glu4474del) c.13088_13090del (p.Glu4363del) c.13301_13303del (p.Glu4434del) c.13370_13372del (p.Glu4457del) c.10070_10072del (p.Glu3357del) c.13781_13783del (p.Glu4594del) c.13304_13306del (p.Glu4435del) c.13328_13330del (p.Glu4443del) c.13382_13384del (p.Glu4461del) c.13274_13276del (p.Glu4425del) c.13451_13453del (p.Glu4484del) c.13439_13441del (p.Glu4480del) c.13796_13798del (p.Glu4599del) c.13397_13399del (p.Glu4466del) c.13385_13387del (p.Glu4462del) c.13343_13345del (p.Glu4448del) c.13319_13321del (p.Glu4440del) c.13289_13291del (p.Glu4430del) c.13466_13468del (p.Glu4489del) c.13316_13318del (p.Glu4439del) c.10016_10018del (p.Glu3339del) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.143916455C>A | CA372474745 | PLEC | c.13498G>T (p.Glu4500Ter) c.13417G>T (p.Glu4473Ter) c.13084G>T (p.Glu4362Ter) c.13297G>T (p.Glu4433Ter) c.13366G>T (p.Glu4456Ter) c.10066G>T (p.Glu3356Ter) c.13777G>T (p.Glu4593Ter) c.13300G>T (p.Glu4434Ter) c.13324G>T (p.Glu4442Ter) c.13378G>T (p.Glu4460Ter) c.13270G>T (p.Glu4424Ter) c.13447G>T (p.Glu4483Ter) c.13435G>T (p.Glu4479Ter) c.13792G>T (p.Glu4598Ter) c.13393G>T (p.Glu4465Ter) c.13381G>T (p.Glu4461Ter) c.13339G>T (p.Glu4447Ter) c.13315G>T (p.Glu4439Ter) c.13285G>T (p.Glu4429Ter) c.13462G>T (p.Glu4488Ter) c.13312G>T (p.Glu4438Ter) c.10012G>T (p.Glu3338Ter) | |
8 | g.143916455C>G | CA372474744 | PLEC | c.13498G>C (p.Glu4500Gln) c.13417G>C (p.Glu4473Gln) c.13084G>C (p.Glu4362Gln) c.13297G>C (p.Glu4433Gln) c.13366G>C (p.Glu4456Gln) c.10066G>C (p.Glu3356Gln) c.13777G>C (p.Glu4593Gln) c.13300G>C (p.Glu4434Gln) c.13324G>C (p.Glu4442Gln) c.13378G>C (p.Glu4460Gln) c.13270G>C (p.Glu4424Gln) c.13447G>C (p.Glu4483Gln) c.13435G>C (p.Glu4479Gln) c.13792G>C (p.Glu4598Gln) c.13393G>C (p.Glu4465Gln) c.13381G>C (p.Glu4461Gln) c.13339G>C (p.Glu4447Gln) c.13315G>C (p.Glu4439Gln) c.13285G>C (p.Glu4429Gln) c.13462G>C (p.Glu4488Gln) c.13312G>C (p.Glu4438Gln) c.10012G>C (p.Glu3338Gln) | |
8 | g.143916455C>T | CA372474743 | PLEC | c.13498G>A (p.Glu4500Lys) c.13417G>A (p.Glu4473Lys) c.13084G>A (p.Glu4362Lys) c.13297G>A (p.Glu4433Lys) c.13366G>A (p.Glu4456Lys) c.10066G>A (p.Glu3356Lys) c.13777G>A (p.Glu4593Lys) c.13300G>A (p.Glu4434Lys) c.13324G>A (p.Glu4442Lys) c.13378G>A (p.Glu4460Lys) c.13270G>A (p.Glu4424Lys) c.13447G>A (p.Glu4483Lys) c.13435G>A (p.Glu4479Lys) c.13792G>A (p.Glu4598Lys) c.13393G>A (p.Glu4465Lys) c.13381G>A (p.Glu4461Lys) c.13339G>A (p.Glu4447Lys) c.13315G>A (p.Glu4439Lys) c.13285G>A (p.Glu4429Lys) c.13462G>A (p.Glu4488Lys) c.13312G>A (p.Glu4438Lys) c.10012G>A (p.Glu3338Lys) | |
8 | g.143916456C>A | CA463526528 | PLEC | c.13497G>T (p.Val4499=) c.13416G>T (p.Val4472=) c.13083G>T (p.Val4361=) c.13296G>T (p.Val4432=) c.13365G>T (p.Val4455=) c.10065G>T (p.Val3355=) c.13776G>T (p.Val4592=) c.13299G>T (p.Val4433=) c.13323G>T (p.Val4441=) c.13377G>T (p.Val4459=) c.13269G>T (p.Val4423=) c.13446G>T (p.Val4482=) c.13434G>T (p.Val4478=) c.13791G>T (p.Val4597=) c.13392G>T (p.Val4464=) c.13380G>T (p.Val4460=) c.13338G>T (p.Val4446=) c.13314G>T (p.Val4438=) c.13284G>T (p.Val4428=) c.13461G>T (p.Val4487=) c.13311G>T (p.Val4437=) c.10011G>T (p.Val3337=) | |
8 | g.143916456C= | CA1826037210 | PLEC | c.13497G= (p.Val4499=) c.13416G= (p.Val4472=) c.13083G= (p.Val4361=) c.13296G= (p.Val4432=) c.13365G= (p.Val4455=) c.10065G= (p.Val3355=) c.13776G= (p.Val4592=) c.13299G= (p.Val4433=) c.13323G= (p.Val4441=) c.13377G= (p.Val4459=) c.13269G= (p.Val4423=) c.13446G= (p.Val4482=) c.13434G= (p.Val4478=) c.13791G= (p.Val4597=) c.13392G= (p.Val4464=) c.13380G= (p.Val4460=) c.13338G= (p.Val4446=) c.13314G= (p.Val4438=) c.13284G= (p.Val4428=) c.13461G= (p.Val4487=) c.13311G= (p.Val4437=) c.10011G= (p.Val3337=) | |
8 | g.143916456C>G | CA463526529 | PLEC | c.13497G>C (p.Val4499=) c.13416G>C (p.Val4472=) c.13083G>C (p.Val4361=) c.13296G>C (p.Val4432=) c.13365G>C (p.Val4455=) c.10065G>C (p.Val3355=) c.13776G>C (p.Val4592=) c.13299G>C (p.Val4433=) c.13323G>C (p.Val4441=) c.13377G>C (p.Val4459=) c.13269G>C (p.Val4423=) c.13446G>C (p.Val4482=) c.13434G>C (p.Val4478=) c.13791G>C (p.Val4597=) c.13392G>C (p.Val4464=) c.13380G>C (p.Val4460=) c.13338G>C (p.Val4446=) c.13314G>C (p.Val4438=) c.13284G>C (p.Val4428=) c.13461G>C (p.Val4487=) c.13311G>C (p.Val4437=) c.10011G>C (p.Val3337=) | dbSNP gnomAD v4 |
8 | g.143916456C>T | CA463526531 | PLEC | c.13497G>A (p.Val4499=) c.13416G>A (p.Val4472=) c.13083G>A (p.Val4361=) c.13296G>A (p.Val4432=) c.13365G>A (p.Val4455=) c.10065G>A (p.Val3355=) c.13776G>A (p.Val4592=) c.13299G>A (p.Val4433=) c.13323G>A (p.Val4441=) c.13377G>A (p.Val4459=) c.13269G>A (p.Val4423=) c.13446G>A (p.Val4482=) c.13434G>A (p.Val4478=) c.13791G>A (p.Val4597=) c.13392G>A (p.Val4464=) c.13380G>A (p.Val4460=) c.13338G>A (p.Val4446=) c.13314G>A (p.Val4438=) c.13284G>A (p.Val4428=) c.13461G>A (p.Val4487=) c.13311G>A (p.Val4437=) c.10011G>A (p.Val3337=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143916457A= | CA1826037212 | PLEC | c.13496T= (p.Val4499=) c.13415T= (p.Val4472=) c.13082T= (p.Val4361=) c.13295T= (p.Val4432=) c.13364T= (p.Val4455=) c.10064T= (p.Val3355=) c.13775T= (p.Val4592=) c.13298T= (p.Val4433=) c.13322T= (p.Val4441=) c.13376T= (p.Val4459=) c.13268T= (p.Val4423=) c.13445T= (p.Val4482=) c.13433T= (p.Val4478=) c.13790T= (p.Val4597=) c.13391T= (p.Val4464=) c.13379T= (p.Val4460=) c.13337T= (p.Val4446=) c.13313T= (p.Val4438=) c.13283T= (p.Val4428=) c.13460T= (p.Val4487=) c.13310T= (p.Val4437=) c.10010T= (p.Val3337=) | |
8 | g.143916457A>C | CA372474746 | PLEC | c.13496T>G (p.Val4499Gly) c.13415T>G (p.Val4472Gly) c.13082T>G (p.Val4361Gly) c.13295T>G (p.Val4432Gly) c.13364T>G (p.Val4455Gly) c.10064T>G (p.Val3355Gly) c.13775T>G (p.Val4592Gly) c.13298T>G (p.Val4433Gly) c.13322T>G (p.Val4441Gly) c.13376T>G (p.Val4459Gly) c.13268T>G (p.Val4423Gly) c.13445T>G (p.Val4482Gly) c.13433T>G (p.Val4478Gly) c.13790T>G (p.Val4597Gly) c.13391T>G (p.Val4464Gly) c.13379T>G (p.Val4460Gly) c.13337T>G (p.Val4446Gly) c.13313T>G (p.Val4438Gly) c.13283T>G (p.Val4428Gly) c.13460T>G (p.Val4487Gly) c.13310T>G (p.Val4437Gly) c.10010T>G (p.Val3337Gly) | |
8 | g.143916457A>G | CA372474747 | PLEC | c.13496T>C (p.Val4499Ala) c.13415T>C (p.Val4472Ala) c.13082T>C (p.Val4361Ala) c.13295T>C (p.Val4432Ala) c.13364T>C (p.Val4455Ala) c.10064T>C (p.Val3355Ala) c.13775T>C (p.Val4592Ala) c.13298T>C (p.Val4433Ala) c.13322T>C (p.Val4441Ala) c.13376T>C (p.Val4459Ala) c.13268T>C (p.Val4423Ala) c.13445T>C (p.Val4482Ala) c.13433T>C (p.Val4478Ala) c.13790T>C (p.Val4597Ala) c.13391T>C (p.Val4464Ala) c.13379T>C (p.Val4460Ala) c.13337T>C (p.Val4446Ala) c.13313T>C (p.Val4438Ala) c.13283T>C (p.Val4428Ala) c.13460T>C (p.Val4487Ala) c.13310T>C (p.Val4437Ala) c.10010T>C (p.Val3337Ala) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.143916457A>T | CA372474748 | PLEC | c.13496T>A (p.Val4499Glu) c.13415T>A (p.Val4472Glu) c.13082T>A (p.Val4361Glu) c.13295T>A (p.Val4432Glu) c.13364T>A (p.Val4455Glu) c.10064T>A (p.Val3355Glu) c.13775T>A (p.Val4592Glu) c.13298T>A (p.Val4433Glu) c.13322T>A (p.Val4441Glu) c.13376T>A (p.Val4459Glu) c.13268T>A (p.Val4423Glu) c.13445T>A (p.Val4482Glu) c.13433T>A (p.Val4478Glu) c.13790T>A (p.Val4597Glu) c.13391T>A (p.Val4464Glu) c.13379T>A (p.Val4460Glu) c.13337T>A (p.Val4446Glu) c.13313T>A (p.Val4438Glu) c.13283T>A (p.Val4428Glu) c.13460T>A (p.Val4487Glu) c.13310T>A (p.Val4437Glu) c.10010T>A (p.Val3337Glu) | |
8 | g.143916458C>A | CA372474749 | PLEC | c.13495G>T (p.Val4499Leu) c.13414G>T (p.Val4472Leu) c.13081G>T (p.Val4361Leu) c.13294G>T (p.Val4432Leu) c.13363G>T (p.Val4455Leu) c.10063G>T (p.Val3355Leu) c.13774G>T (p.Val4592Leu) c.13297G>T (p.Val4433Leu) c.13321G>T (p.Val4441Leu) c.13375G>T (p.Val4459Leu) c.13267G>T (p.Val4423Leu) c.13444G>T (p.Val4482Leu) c.13432G>T (p.Val4478Leu) c.13789G>T (p.Val4597Leu) c.13390G>T (p.Val4464Leu) c.13378G>T (p.Val4460Leu) c.13336G>T (p.Val4446Leu) c.13312G>T (p.Val4438Leu) c.13282G>T (p.Val4428Leu) c.13459G>T (p.Val4487Leu) c.13309G>T (p.Val4437Leu) c.10009G>T (p.Val3337Leu) | |
8 | g.143916458C= | CA1826037214 | PLEC | c.13495G= (p.Val4499=) c.13414G= (p.Val4472=) c.13081G= (p.Val4361=) c.13294G= (p.Val4432=) c.13363G= (p.Val4455=) c.10063G= (p.Val3355=) c.13774G= (p.Val4592=) c.13297G= (p.Val4433=) c.13321G= (p.Val4441=) c.13375G= (p.Val4459=) c.13267G= (p.Val4423=) c.13444G= (p.Val4482=) c.13432G= (p.Val4478=) c.13789G= (p.Val4597=) c.13390G= (p.Val4464=) c.13378G= (p.Val4460=) c.13336G= (p.Val4446=) c.13312G= (p.Val4438=) c.13282G= (p.Val4428=) c.13459G= (p.Val4487=) c.13309G= (p.Val4437=) c.10009G= (p.Val3337=) | |
8 | g.143916458C>G | CA4923828 | PLEC | c.13495G>C (p.Val4499Leu) c.13414G>C (p.Val4472Leu) c.13081G>C (p.Val4361Leu) c.13294G>C (p.Val4432Leu) c.13363G>C (p.Val4455Leu) c.10063G>C (p.Val3355Leu) c.13774G>C (p.Val4592Leu) c.13297G>C (p.Val4433Leu) c.13321G>C (p.Val4441Leu) c.13375G>C (p.Val4459Leu) c.13267G>C (p.Val4423Leu) c.13444G>C (p.Val4482Leu) c.13432G>C (p.Val4478Leu) c.13789G>C (p.Val4597Leu) c.13390G>C (p.Val4464Leu) c.13378G>C (p.Val4460Leu) c.13336G>C (p.Val4446Leu) c.13312G>C (p.Val4438Leu) c.13282G>C (p.Val4428Leu) c.13459G>C (p.Val4487Leu) c.13309G>C (p.Val4437Leu) c.10009G>C (p.Val3337Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.143916458C>T | CA372474750 | PLEC | c.13495G>A (p.Val4499Met) c.13414G>A (p.Val4472Met) c.13081G>A (p.Val4361Met) c.13294G>A (p.Val4432Met) c.13363G>A (p.Val4455Met) c.10063G>A (p.Val3355Met) c.13774G>A (p.Val4592Met) c.13297G>A (p.Val4433Met) c.13321G>A (p.Val4441Met) c.13375G>A (p.Val4459Met) c.13267G>A (p.Val4423Met) c.13444G>A (p.Val4482Met) c.13432G>A (p.Val4478Met) c.13789G>A (p.Val4597Met) c.13390G>A (p.Val4464Met) c.13378G>A (p.Val4460Met) c.13336G>A (p.Val4446Met) c.13312G>A (p.Val4438Met) c.13282G>A (p.Val4428Met) c.13459G>A (p.Val4487Met) c.13309G>A (p.Val4437Met) c.10009G>A (p.Val3337Met) | |
8 | g.143916459C>A | CA372474753 | PLEC | c.13494G>T (p.Met4498Ile) c.13413G>T (p.Met4471Ile) c.13080G>T (p.Met4360Ile) c.13293G>T (p.Met4431Ile) c.13362G>T (p.Met4454Ile) c.10062G>T (p.Met3354Ile) c.13773G>T (p.Met4591Ile) c.13296G>T (p.Met4432Ile) c.13320G>T (p.Met4440Ile) c.13374G>T (p.Met4458Ile) c.13266G>T (p.Met4422Ile) c.13443G>T (p.Met4481Ile) c.13431G>T (p.Met4477Ile) c.13788G>T (p.Met4596Ile) c.13389G>T (p.Met4463Ile) c.13377G>T (p.Met4459Ile) c.13335G>T (p.Met4445Ile) c.13311G>T (p.Met4437Ile) c.13281G>T (p.Met4427Ile) c.13458G>T (p.Met4486Ile) c.13308G>T (p.Met4436Ile) c.10008G>T (p.Met3336Ile) | |
8 | g.143916459C= | CA1826037215 | PLEC | c.13494G= (p.Met4498=) c.13413G= (p.Met4471=) c.13080G= (p.Met4360=) c.13293G= (p.Met4431=) c.13362G= (p.Met4454=) c.10062G= (p.Met3354=) c.13773G= (p.Met4591=) c.13296G= (p.Met4432=) c.13320G= (p.Met4440=) c.13374G= (p.Met4458=) c.13266G= (p.Met4422=) c.13443G= (p.Met4481=) c.13431G= (p.Met4477=) c.13788G= (p.Met4596=) c.13389G= (p.Met4463=) c.13377G= (p.Met4459=) c.13335G= (p.Met4445=) c.13311G= (p.Met4437=) c.13281G= (p.Met4427=) c.13458G= (p.Met4486=) c.13308G= (p.Met4436=) c.10008G= (p.Met3336=) | |
8 | g.143916459C>G | CA372474751 | PLEC | c.13494G>C (p.Met4498Ile) c.13413G>C (p.Met4471Ile) c.13080G>C (p.Met4360Ile) c.13293G>C (p.Met4431Ile) c.13362G>C (p.Met4454Ile) c.10062G>C (p.Met3354Ile) c.13773G>C (p.Met4591Ile) c.13296G>C (p.Met4432Ile) c.13320G>C (p.Met4440Ile) c.13374G>C (p.Met4458Ile) c.13266G>C (p.Met4422Ile) c.13443G>C (p.Met4481Ile) c.13431G>C (p.Met4477Ile) c.13788G>C (p.Met4596Ile) c.13389G>C (p.Met4463Ile) c.13377G>C (p.Met4459Ile) c.13335G>C (p.Met4445Ile) c.13311G>C (p.Met4437Ile) c.13281G>C (p.Met4427Ile) c.13458G>C (p.Met4486Ile) c.13308G>C (p.Met4436Ile) c.10008G>C (p.Met3336Ile) | dbSNP gnomAD v4 |
8 | g.143916459C>T | CA372474752 | PLEC | c.13494G>A (p.Met4498Ile) c.13413G>A (p.Met4471Ile) c.13080G>A (p.Met4360Ile) c.13293G>A (p.Met4431Ile) c.13362G>A (p.Met4454Ile) c.10062G>A (p.Met3354Ile) c.13773G>A (p.Met4591Ile) c.13296G>A (p.Met4432Ile) c.13320G>A (p.Met4440Ile) c.13374G>A (p.Met4458Ile) c.13266G>A (p.Met4422Ile) c.13443G>A (p.Met4481Ile) c.13431G>A (p.Met4477Ile) c.13788G>A (p.Met4596Ile) c.13389G>A (p.Met4463Ile) c.13377G>A (p.Met4459Ile) c.13335G>A (p.Met4445Ile) c.13311G>A (p.Met4437Ile) c.13281G>A (p.Met4427Ile) c.13458G>A (p.Met4486Ile) c.13308G>A (p.Met4436Ile) c.10008G>A (p.Met3336Ile) | |
8 | g.143916460A>C | CA372474754 | PLEC | c.13493T>G (p.Met4498Arg) c.13412T>G (p.Met4471Arg) c.13079T>G (p.Met4360Arg) c.13292T>G (p.Met4431Arg) c.13361T>G (p.Met4454Arg) c.10061T>G (p.Met3354Arg) c.13772T>G (p.Met4591Arg) c.13295T>G (p.Met4432Arg) c.13319T>G (p.Met4440Arg) c.13373T>G (p.Met4458Arg) c.13265T>G (p.Met4422Arg) c.13442T>G (p.Met4481Arg) c.13430T>G (p.Met4477Arg) c.13787T>G (p.Met4596Arg) c.13388T>G (p.Met4463Arg) c.13376T>G (p.Met4459Arg) c.13334T>G (p.Met4445Arg) c.13310T>G (p.Met4437Arg) c.13280T>G (p.Met4427Arg) c.13457T>G (p.Met4486Arg) c.13307T>G (p.Met4436Arg) c.10007T>G (p.Met3336Arg) | |
8 | g.143916460A>G | CA372474755 | PLEC | c.13493T>C (p.Met4498Thr) c.13412T>C (p.Met4471Thr) c.13079T>C (p.Met4360Thr) c.13292T>C (p.Met4431Thr) c.13361T>C (p.Met4454Thr) c.10061T>C (p.Met3354Thr) c.13772T>C (p.Met4591Thr) c.13295T>C (p.Met4432Thr) c.13319T>C (p.Met4440Thr) c.13373T>C (p.Met4458Thr) c.13265T>C (p.Met4422Thr) c.13442T>C (p.Met4481Thr) c.13430T>C (p.Met4477Thr) c.13787T>C (p.Met4596Thr) c.13388T>C (p.Met4463Thr) c.13376T>C (p.Met4459Thr) c.13334T>C (p.Met4445Thr) c.13310T>C (p.Met4437Thr) c.13280T>C (p.Met4427Thr) c.13457T>C (p.Met4486Thr) c.13307T>C (p.Met4436Thr) c.10007T>C (p.Met3336Thr) | |
8 | g.143916460A>T | CA372474756 | PLEC | c.13493T>A (p.Met4498Lys) c.13412T>A (p.Met4471Lys) c.13079T>A (p.Met4360Lys) c.13292T>A (p.Met4431Lys) c.13361T>A (p.Met4454Lys) c.10061T>A (p.Met3354Lys) c.13772T>A (p.Met4591Lys) c.13295T>A (p.Met4432Lys) c.13319T>A (p.Met4440Lys) c.13373T>A (p.Met4458Lys) c.13265T>A (p.Met4422Lys) c.13442T>A (p.Met4481Lys) c.13430T>A (p.Met4477Lys) c.13787T>A (p.Met4596Lys) c.13388T>A (p.Met4463Lys) c.13376T>A (p.Met4459Lys) c.13334T>A (p.Met4445Lys) c.13310T>A (p.Met4437Lys) c.13280T>A (p.Met4427Lys) c.13457T>A (p.Met4486Lys) c.13307T>A (p.Met4436Lys) c.10007T>A (p.Met3336Lys) | |
8 | g.143916460_143916461insGGTTCCGG | CA1120226750 | PLEC | c.13492_13493insCCGGAACC (p.Met4498ThrfsTer?) c.13411_13412insCCGGAACC (p.Met4471ThrfsTer?) c.13078_13079insCCGGAACC (p.Met4360ThrfsTer?) c.13291_13292insCCGGAACC (p.Met4431ThrfsTer?) c.13360_13361insCCGGAACC (p.Met4454ThrfsTer?) c.10060_10061insCCGGAACC (p.Met3354ThrfsTer?) c.13771_13772insCCGGAACC (p.Met4591ThrfsTer?) c.13294_13295insCCGGAACC (p.Met4432ThrfsTer?) c.13318_13319insCCGGAACC (p.Met4440ThrfsTer?) c.13372_13373insCCGGAACC (p.Met4458ThrfsTer?) c.13264_13265insCCGGAACC (p.Met4422ThrfsTer?) c.13441_13442insCCGGAACC (p.Met4481ThrfsTer?) c.13429_13430insCCGGAACC (p.Met4477ThrfsTer?) c.13786_13787insCCGGAACC (p.Met4596ThrfsTer?) c.13387_13388insCCGGAACC (p.Met4463ThrfsTer?) c.13375_13376insCCGGAACC (p.Met4459ThrfsTer?) c.13333_13334insCCGGAACC (p.Met4445ThrfsTer?) c.13309_13310insCCGGAACC (p.Met4437ThrfsTer?) c.13279_13280insCCGGAACC (p.Met4427ThrfsTer?) c.13456_13457insCCGGAACC (p.Met4486ThrfsTer?) c.13306_13307insCCGGAACC (p.Met4436ThrfsTer?) c.10006_10007insCCGGAACC (p.Met3336ThrfsTer?) | gnomAD v3 gnomAD v4 |
8 | g.143916461T>A | CA372474757 | PLEC | c.13492A>T (p.Met4498Leu) c.13411A>T (p.Met4471Leu) c.13078A>T (p.Met4360Leu) c.13291A>T (p.Met4431Leu) c.13360A>T (p.Met4454Leu) c.10060A>T (p.Met3354Leu) c.13771A>T (p.Met4591Leu) c.13294A>T (p.Met4432Leu) c.13318A>T (p.Met4440Leu) c.13372A>T (p.Met4458Leu) c.13264A>T (p.Met4422Leu) c.13441A>T (p.Met4481Leu) c.13429A>T (p.Met4477Leu) c.13786A>T (p.Met4596Leu) c.13387A>T (p.Met4463Leu) c.13375A>T (p.Met4459Leu) c.13333A>T (p.Met4445Leu) c.13309A>T (p.Met4437Leu) c.13279A>T (p.Met4427Leu) c.13456A>T (p.Met4486Leu) c.13306A>T (p.Met4436Leu) c.10006A>T (p.Met3336Leu) | |
8 | g.143916461T>C | CA372474758 | PLEC | c.13492A>G (p.Met4498Val) c.13411A>G (p.Met4471Val) c.13078A>G (p.Met4360Val) c.13291A>G (p.Met4431Val) c.13360A>G (p.Met4454Val) c.10060A>G (p.Met3354Val) c.13771A>G (p.Met4591Val) c.13294A>G (p.Met4432Val) c.13318A>G (p.Met4440Val) c.13372A>G (p.Met4458Val) c.13264A>G (p.Met4422Val) c.13441A>G (p.Met4481Val) c.13429A>G (p.Met4477Val) c.13786A>G (p.Met4596Val) c.13387A>G (p.Met4463Val) c.13375A>G (p.Met4459Val) c.13333A>G (p.Met4445Val) c.13309A>G (p.Met4437Val) c.13279A>G (p.Met4427Val) c.13456A>G (p.Met4486Val) c.13306A>G (p.Met4436Val) c.10006A>G (p.Met3336Val) | gnomAD v3 gnomAD v4 |
8 | g.143916461T>G | CA372474759 | PLEC | c.13492A>C (p.Met4498Leu) c.13411A>C (p.Met4471Leu) c.13078A>C (p.Met4360Leu) c.13291A>C (p.Met4431Leu) c.13360A>C (p.Met4454Leu) c.10060A>C (p.Met3354Leu) c.13771A>C (p.Met4591Leu) c.13294A>C (p.Met4432Leu) c.13318A>C (p.Met4440Leu) c.13372A>C (p.Met4458Leu) c.13264A>C (p.Met4422Leu) c.13441A>C (p.Met4481Leu) c.13429A>C (p.Met4477Leu) c.13786A>C (p.Met4596Leu) c.13387A>C (p.Met4463Leu) c.13375A>C (p.Met4459Leu) c.13333A>C (p.Met4445Leu) c.13309A>C (p.Met4437Leu) c.13279A>C (p.Met4427Leu) c.13456A>C (p.Met4486Leu) c.13306A>C (p.Met4436Leu) c.10006A>C (p.Met3336Leu) | gnomAD v3 gnomAD v4 |
8 | g.143916462G>A | CA4923829 | PLEC | c.13491C>T (p.Ser4497=) c.13410C>T (p.Ser4470=) c.13077C>T (p.Ser4359=) c.13290C>T (p.Ser4430=) c.13359C>T (p.Ser4453=) c.10059C>T (p.Ser3353=) c.13770C>T (p.Ser4590=) c.13293C>T (p.Ser4431=) c.13317C>T (p.Ser4439=) c.13371C>T (p.Ser4457=) c.13263C>T (p.Ser4421=) c.13440C>T (p.Ser4480=) c.13428C>T (p.Ser4476=) c.13785C>T (p.Ser4595=) c.13386C>T (p.Ser4462=) c.13374C>T (p.Ser4458=) c.13332C>T (p.Ser4444=) c.13308C>T (p.Ser4436=) c.13278C>T (p.Ser4426=) c.13455C>T (p.Ser4485=) c.13305C>T (p.Ser4435=) c.10005C>T (p.Ser3335=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143916462G>C | CA372474760 | PLEC | c.13491C>G (p.Ser4497Arg) c.13410C>G (p.Ser4470Arg) c.13077C>G (p.Ser4359Arg) c.13290C>G (p.Ser4430Arg) c.13359C>G (p.Ser4453Arg) c.10059C>G (p.Ser3353Arg) c.13770C>G (p.Ser4590Arg) c.13293C>G (p.Ser4431Arg) c.13317C>G (p.Ser4439Arg) c.13371C>G (p.Ser4457Arg) c.13263C>G (p.Ser4421Arg) c.13440C>G (p.Ser4480Arg) c.13428C>G (p.Ser4476Arg) c.13785C>G (p.Ser4595Arg) c.13386C>G (p.Ser4462Arg) c.13374C>G (p.Ser4458Arg) c.13332C>G (p.Ser4444Arg) c.13308C>G (p.Ser4436Arg) c.13278C>G (p.Ser4426Arg) c.13455C>G (p.Ser4485Arg) c.13305C>G (p.Ser4435Arg) c.10005C>G (p.Ser3335Arg) | |
8 | g.143916462G= | CA1826037217 | PLEC | c.13491C= (p.Ser4497=) c.13410C= (p.Ser4470=) c.13077C= (p.Ser4359=) c.13290C= (p.Ser4430=) c.13359C= (p.Ser4453=) c.10059C= (p.Ser3353=) c.13770C= (p.Ser4590=) c.13293C= (p.Ser4431=) c.13317C= (p.Ser4439=) c.13371C= (p.Ser4457=) c.13263C= (p.Ser4421=) c.13440C= (p.Ser4480=) c.13428C= (p.Ser4476=) c.13785C= (p.Ser4595=) c.13386C= (p.Ser4462=) c.13374C= (p.Ser4458=) c.13332C= (p.Ser4444=) c.13308C= (p.Ser4436=) c.13278C= (p.Ser4426=) c.13455C= (p.Ser4485=) c.13305C= (p.Ser4435=) c.10005C= (p.Ser3335=) | |
8 | g.143916462G>T | CA372474761 | PLEC | c.13491C>A (p.Ser4497Arg) c.13410C>A (p.Ser4470Arg) c.13077C>A (p.Ser4359Arg) c.13290C>A (p.Ser4430Arg) c.13359C>A (p.Ser4453Arg) c.10059C>A (p.Ser3353Arg) c.13770C>A (p.Ser4590Arg) c.13293C>A (p.Ser4431Arg) c.13317C>A (p.Ser4439Arg) c.13371C>A (p.Ser4457Arg) c.13263C>A (p.Ser4421Arg) c.13440C>A (p.Ser4480Arg) c.13428C>A (p.Ser4476Arg) c.13785C>A (p.Ser4595Arg) c.13386C>A (p.Ser4462Arg) c.13374C>A (p.Ser4458Arg) c.13332C>A (p.Ser4444Arg) c.13308C>A (p.Ser4436Arg) c.13278C>A (p.Ser4426Arg) c.13455C>A (p.Ser4485Arg) c.13305C>A (p.Ser4435Arg) c.10005C>A (p.Ser3335Arg) | |
8 | g.143916463C>A | CA372474762 | PLEC | c.13490G>T (p.Ser4497Ile) c.13409G>T (p.Ser4470Ile) c.13076G>T (p.Ser4359Ile) c.13289G>T (p.Ser4430Ile) c.13358G>T (p.Ser4453Ile) c.10058G>T (p.Ser3353Ile) c.13769G>T (p.Ser4590Ile) c.13292G>T (p.Ser4431Ile) c.13316G>T (p.Ser4439Ile) c.13370G>T (p.Ser4457Ile) c.13262G>T (p.Ser4421Ile) c.13439G>T (p.Ser4480Ile) c.13427G>T (p.Ser4476Ile) c.13784G>T (p.Ser4595Ile) c.13385G>T (p.Ser4462Ile) c.13373G>T (p.Ser4458Ile) c.13331G>T (p.Ser4444Ile) c.13307G>T (p.Ser4436Ile) c.13277G>T (p.Ser4426Ile) c.13454G>T (p.Ser4485Ile) c.13304G>T (p.Ser4435Ile) c.10004G>T (p.Ser3335Ile) | |
8 | g.143916463C>G | CA372474763 | PLEC | c.13490G>C (p.Ser4497Thr) c.13409G>C (p.Ser4470Thr) c.13076G>C (p.Ser4359Thr) c.13289G>C (p.Ser4430Thr) c.13358G>C (p.Ser4453Thr) c.10058G>C (p.Ser3353Thr) c.13769G>C (p.Ser4590Thr) c.13292G>C (p.Ser4431Thr) c.13316G>C (p.Ser4439Thr) c.13370G>C (p.Ser4457Thr) c.13262G>C (p.Ser4421Thr) c.13439G>C (p.Ser4480Thr) c.13427G>C (p.Ser4476Thr) c.13784G>C (p.Ser4595Thr) c.13385G>C (p.Ser4462Thr) c.13373G>C (p.Ser4458Thr) c.13331G>C (p.Ser4444Thr) c.13307G>C (p.Ser4436Thr) c.13277G>C (p.Ser4426Thr) c.13454G>C (p.Ser4485Thr) c.13304G>C (p.Ser4435Thr) c.10004G>C (p.Ser3335Thr) | |
8 | g.143916463C>T | CA372474764 | PLEC | c.13490G>A (p.Ser4497Asn) c.13409G>A (p.Ser4470Asn) c.13076G>A (p.Ser4359Asn) c.13289G>A (p.Ser4430Asn) c.13358G>A (p.Ser4453Asn) c.10058G>A (p.Ser3353Asn) c.13769G>A (p.Ser4590Asn) c.13292G>A (p.Ser4431Asn) c.13316G>A (p.Ser4439Asn) c.13370G>A (p.Ser4457Asn) c.13262G>A (p.Ser4421Asn) c.13439G>A (p.Ser4480Asn) c.13427G>A (p.Ser4476Asn) c.13784G>A (p.Ser4595Asn) c.13385G>A (p.Ser4462Asn) c.13373G>A (p.Ser4458Asn) c.13331G>A (p.Ser4444Asn) c.13307G>A (p.Ser4436Asn) c.13277G>A (p.Ser4426Asn) c.13454G>A (p.Ser4485Asn) c.13304G>A (p.Ser4435Asn) c.10004G>A (p.Ser3335Asn) | gnomAD v4 |
8 | g.143916463_143916464insA | CA1120226752 | PLEC | c.13489_13490insT (p.Ser4497MetfsTer?) c.13408_13409insT (p.Ser4470MetfsTer?) c.13075_13076insT (p.Ser4359MetfsTer?) c.13288_13289insT (p.Ser4430MetfsTer?) c.13357_13358insT (p.Ser4453MetfsTer?) c.10057_10058insT (p.Ser3353MetfsTer?) c.13768_13769insT (p.Ser4590MetfsTer?) c.13291_13292insT (p.Ser4431MetfsTer?) c.13315_13316insT (p.Ser4439MetfsTer?) c.13369_13370insT (p.Ser4457MetfsTer?) c.13261_13262insT (p.Ser4421MetfsTer?) c.13438_13439insT (p.Ser4480MetfsTer?) c.13426_13427insT (p.Ser4476MetfsTer?) c.13783_13784insT (p.Ser4595MetfsTer?) c.13384_13385insT (p.Ser4462MetfsTer?) c.13372_13373insT (p.Ser4458MetfsTer?) c.13330_13331insT (p.Ser4444MetfsTer?) c.13306_13307insT (p.Ser4436MetfsTer?) c.13276_13277insT (p.Ser4426MetfsTer?) c.13453_13454insT (p.Ser4485MetfsTer?) c.13303_13304insT (p.Ser4435MetfsTer?) c.10003_10004insT (p.Ser3335MetfsTer?) | gnomAD v3 gnomAD v4 |
8 | g.143916464T>A | CA372474766 | PLEC | c.13489A>T (p.Ser4497Cys) c.13408A>T (p.Ser4470Cys) c.13075A>T (p.Ser4359Cys) c.13288A>T (p.Ser4430Cys) c.13357A>T (p.Ser4453Cys) c.10057A>T (p.Ser3353Cys) c.13768A>T (p.Ser4590Cys) c.13291A>T (p.Ser4431Cys) c.13315A>T (p.Ser4439Cys) c.13369A>T (p.Ser4457Cys) c.13261A>T (p.Ser4421Cys) c.13438A>T (p.Ser4480Cys) c.13426A>T (p.Ser4476Cys) c.13783A>T (p.Ser4595Cys) c.13384A>T (p.Ser4462Cys) c.13372A>T (p.Ser4458Cys) c.13330A>T (p.Ser4444Cys) c.13306A>T (p.Ser4436Cys) c.13276A>T (p.Ser4426Cys) c.13453A>T (p.Ser4485Cys) c.13303A>T (p.Ser4435Cys) c.10003A>T (p.Ser3335Cys) | |
8 | g.143916464T>C | CA187606136 | PLEC | c.13489A>G (p.Ser4497Gly) c.13408A>G (p.Ser4470Gly) c.13075A>G (p.Ser4359Gly) c.13288A>G (p.Ser4430Gly) c.13357A>G (p.Ser4453Gly) c.10057A>G (p.Ser3353Gly) c.13768A>G (p.Ser4590Gly) c.13291A>G (p.Ser4431Gly) c.13315A>G (p.Ser4439Gly) c.13369A>G (p.Ser4457Gly) c.13261A>G (p.Ser4421Gly) c.13438A>G (p.Ser4480Gly) c.13426A>G (p.Ser4476Gly) c.13783A>G (p.Ser4595Gly) c.13384A>G (p.Ser4462Gly) c.13372A>G (p.Ser4458Gly) c.13330A>G (p.Ser4444Gly) c.13306A>G (p.Ser4436Gly) c.13276A>G (p.Ser4426Gly) c.13453A>G (p.Ser4485Gly) c.13303A>G (p.Ser4435Gly) c.10003A>G (p.Ser3335Gly) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.143916464T>G | CA372474765 | PLEC | c.13489A>C (p.Ser4497Arg) c.13408A>C (p.Ser4470Arg) c.13075A>C (p.Ser4359Arg) c.13288A>C (p.Ser4430Arg) c.13357A>C (p.Ser4453Arg) c.10057A>C (p.Ser3353Arg) c.13768A>C (p.Ser4590Arg) c.13291A>C (p.Ser4431Arg) c.13315A>C (p.Ser4439Arg) c.13369A>C (p.Ser4457Arg) c.13261A>C (p.Ser4421Arg) c.13438A>C (p.Ser4480Arg) c.13426A>C (p.Ser4476Arg) c.13783A>C (p.Ser4595Arg) c.13384A>C (p.Ser4462Arg) c.13372A>C (p.Ser4458Arg) c.13330A>C (p.Ser4444Arg) c.13306A>C (p.Ser4436Arg) c.13276A>C (p.Ser4426Arg) c.13453A>C (p.Ser4485Arg) c.13303A>C (p.Ser4435Arg) c.10003A>C (p.Ser3335Arg) | |
8 | g.143916464T= | CA1826037220 | PLEC | c.13489A= (p.Ser4497=) c.13408A= (p.Ser4470=) c.13075A= (p.Ser4359=) c.13288A= (p.Ser4430=) c.13357A= (p.Ser4453=) c.10057A= (p.Ser3353=) c.13768A= (p.Ser4590=) c.13291A= (p.Ser4431=) c.13315A= (p.Ser4439=) c.13369A= (p.Ser4457=) c.13261A= (p.Ser4421=) c.13438A= (p.Ser4480=) c.13426A= (p.Ser4476=) c.13783A= (p.Ser4595=) c.13384A= (p.Ser4462=) c.13372A= (p.Ser4458=) c.13330A= (p.Ser4444=) c.13306A= (p.Ser4436=) c.13276A= (p.Ser4426=) c.13453A= (p.Ser4485=) c.13303A= (p.Ser4435=) c.10003A= (p.Ser3335=) | |
8 | g.143916465G>A | CA4923830 | PLEC | c.13488C>T (p.Arg4496=) c.13407C>T (p.Arg4469=) c.13074C>T (p.Arg4358=) c.13287C>T (p.Arg4429=) c.13356C>T (p.Arg4452=) c.10056C>T (p.Arg3352=) c.13767C>T (p.Arg4589=) c.13290C>T (p.Arg4430=) c.13314C>T (p.Arg4438=) c.13368C>T (p.Arg4456=) c.13260C>T (p.Arg4420=) c.13437C>T (p.Arg4479=) c.13425C>T (p.Arg4475=) c.13782C>T (p.Arg4594=) c.13383C>T (p.Arg4461=) c.13371C>T (p.Arg4457=) c.13329C>T (p.Arg4443=) c.13305C>T (p.Arg4435=) c.13275C>T (p.Arg4425=) c.13452C>T (p.Arg4484=) c.13302C>T (p.Arg4434=) c.10002C>T (p.Arg3334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.143916465G>C | CA463526540 | PLEC | c.13488C>G (p.Arg4496=) c.13407C>G (p.Arg4469=) c.13074C>G (p.Arg4358=) c.13287C>G (p.Arg4429=) c.13356C>G (p.Arg4452=) c.10056C>G (p.Arg3352=) c.13767C>G (p.Arg4589=) c.13290C>G (p.Arg4430=) c.13314C>G (p.Arg4438=) c.13368C>G (p.Arg4456=) c.13260C>G (p.Arg4420=) c.13437C>G (p.Arg4479=) c.13425C>G (p.Arg4475=) c.13782C>G (p.Arg4594=) c.13383C>G (p.Arg4461=) c.13371C>G (p.Arg4457=) c.13329C>G (p.Arg4443=) c.13305C>G (p.Arg4435=) c.13275C>G (p.Arg4425=) c.13452C>G (p.Arg4484=) c.13302C>G (p.Arg4434=) c.10002C>G (p.Arg3334=) | |
8 | g.143916465G= | CA1826037222 | PLEC | c.13488C= (p.Arg4496=) c.13407C= (p.Arg4469=) c.13074C= (p.Arg4358=) c.13287C= (p.Arg4429=) c.13356C= (p.Arg4452=) c.10056C= (p.Arg3352=) c.13767C= (p.Arg4589=) c.13290C= (p.Arg4430=) c.13314C= (p.Arg4438=) c.13368C= (p.Arg4456=) c.13260C= (p.Arg4420=) c.13437C= (p.Arg4479=) c.13425C= (p.Arg4475=) c.13782C= (p.Arg4594=) c.13383C= (p.Arg4461=) c.13371C= (p.Arg4457=) c.13329C= (p.Arg4443=) c.13305C= (p.Arg4435=) c.13275C= (p.Arg4425=) c.13452C= (p.Arg4484=) c.13302C= (p.Arg4434=) c.10002C= (p.Arg3334=) | |
8 | g.143916465G>T | CA463526542 | PLEC | c.13488C>A (p.Arg4496=) c.13407C>A (p.Arg4469=) c.13074C>A (p.Arg4358=) c.13287C>A (p.Arg4429=) c.13356C>A (p.Arg4452=) c.10056C>A (p.Arg3352=) c.13767C>A (p.Arg4589=) c.13290C>A (p.Arg4430=) c.13314C>A (p.Arg4438=) c.13368C>A (p.Arg4456=) c.13260C>A (p.Arg4420=) c.13437C>A (p.Arg4479=) c.13425C>A (p.Arg4475=) c.13782C>A (p.Arg4594=) c.13383C>A (p.Arg4461=) c.13371C>A (p.Arg4457=) c.13329C>A (p.Arg4443=) c.13305C>A (p.Arg4435=) c.13275C>A (p.Arg4425=) c.13452C>A (p.Arg4484=) c.13302C>A (p.Arg4434=) c.10002C>A (p.Arg3334=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.143916465_143916466insGCCT | CA1120226755 | PLEC | c.13487_13488insAGGC (p.Ser4497GlyfsTer?) c.13406_13407insAGGC (p.Ser4470GlyfsTer?) c.13073_13074insAGGC (p.Ser4359GlyfsTer?) c.13286_13287insAGGC (p.Ser4430GlyfsTer?) c.13355_13356insAGGC (p.Ser4453GlyfsTer?) c.10055_10056insAGGC (p.Ser3353GlyfsTer?) c.13766_13767insAGGC (p.Ser4590GlyfsTer?) c.13289_13290insAGGC (p.Ser4431GlyfsTer?) c.13313_13314insAGGC (p.Ser4439GlyfsTer?) c.13367_13368insAGGC (p.Ser4457GlyfsTer?) c.13259_13260insAGGC (p.Ser4421GlyfsTer?) c.13436_13437insAGGC (p.Ser4480GlyfsTer?) c.13424_13425insAGGC (p.Ser4476GlyfsTer?) c.13781_13782insAGGC (p.Ser4595GlyfsTer?) c.13382_13383insAGGC (p.Ser4462GlyfsTer?) c.13370_13371insAGGC (p.Ser4458GlyfsTer?) c.13328_13329insAGGC (p.Ser4444GlyfsTer?) c.13304_13305insAGGC (p.Ser4436GlyfsTer?) c.13274_13275insAGGC (p.Ser4426GlyfsTer?) c.13451_13452insAGGC (p.Ser4485GlyfsTer?) c.13301_13302insAGGC (p.Ser4435GlyfsTer?) c.10001_10002insAGGC (p.Ser3335GlyfsTer?) | gnomAD v3 gnomAD v4 |
8 | g.143916466C>A | CA372474767 | PLEC | c.13487G>T (p.Arg4496Leu) c.13406G>T (p.Arg4469Leu) c.13073G>T (p.Arg4358Leu) c.13286G>T (p.Arg4429Leu) c.13355G>T (p.Arg4452Leu) c.10055G>T (p.Arg3352Leu) c.13766G>T (p.Arg4589Leu) c.13289G>T (p.Arg4430Leu) c.13313G>T (p.Arg4438Leu) c.13367G>T (p.Arg4456Leu) c.13259G>T (p.Arg4420Leu) c.13436G>T (p.Arg4479Leu) c.13424G>T (p.Arg4475Leu) c.13781G>T (p.Arg4594Leu) c.13382G>T (p.Arg4461Leu) c.13370G>T (p.Arg4457Leu) c.13328G>T (p.Arg4443Leu) c.13304G>T (p.Arg4435Leu) c.13274G>T (p.Arg4425Leu) c.13451G>T (p.Arg4484Leu) c.13301G>T (p.Arg4434Leu) c.10001G>T (p.Arg3334Leu) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
8 | g.143916466C= | CA1826037228 | PLEC | c.13487G= (p.Arg4496=) c.13406G= (p.Arg4469=) c.13073G= (p.Arg4358=) c.13286G= (p.Arg4429=) c.13355G= (p.Arg4452=) c.10055G= (p.Arg3352=) c.13766G= (p.Arg4589=) c.13289G= (p.Arg4430=) c.13313G= (p.Arg4438=) c.13367G= (p.Arg4456=) c.13259G= (p.Arg4420=) c.13436G= (p.Arg4479=) c.13424G= (p.Arg4475=) c.13781G= (p.Arg4594=) c.13382G= (p.Arg4461=) c.13370G= (p.Arg4457=) c.13328G= (p.Arg4443=) c.13304G= (p.Arg4435=) c.13274G= (p.Arg4425=) c.13451G= (p.Arg4484=) c.13301G= (p.Arg4434=) c.10001G= (p.Arg3334=) | |
8 | g.143916466C>G | CA372474768 | PLEC | c.13487G>C (p.Arg4496Pro) c.13406G>C (p.Arg4469Pro) c.13073G>C (p.Arg4358Pro) c.13286G>C (p.Arg4429Pro) c.13355G>C (p.Arg4452Pro) c.10055G>C (p.Arg3352Pro) c.13766G>C (p.Arg4589Pro) c.13289G>C (p.Arg4430Pro) c.13313G>C (p.Arg4438Pro) c.13367G>C (p.Arg4456Pro) c.13259G>C (p.Arg4420Pro) c.13436G>C (p.Arg4479Pro) c.13424G>C (p.Arg4475Pro) c.13781G>C (p.Arg4594Pro) c.13382G>C (p.Arg4461Pro) c.13370G>C (p.Arg4457Pro) c.13328G>C (p.Arg4443Pro) c.13304G>C (p.Arg4435Pro) c.13274G>C (p.Arg4425Pro) c.13451G>C (p.Arg4484Pro) c.13301G>C (p.Arg4434Pro) c.10001G>C (p.Arg3334Pro) | |
8 | g.143916466C>T | CA4923831 | PLEC | c.13487G>A (p.Arg4496His) c.13406G>A (p.Arg4469His) c.13073G>A (p.Arg4358His) c.13286G>A (p.Arg4429His) c.13355G>A (p.Arg4452His) c.10055G>A (p.Arg3352His) c.13766G>A (p.Arg4589His) c.13289G>A (p.Arg4430His) c.13313G>A (p.Arg4438His) c.13367G>A (p.Arg4456His) c.13259G>A (p.Arg4420His) c.13436G>A (p.Arg4479His) c.13424G>A (p.Arg4475His) c.13781G>A (p.Arg4594His) c.13382G>A (p.Arg4461His) c.13370G>A (p.Arg4457His) c.13328G>A (p.Arg4443His) c.13304G>A (p.Arg4435His) c.13274G>A (p.Arg4425His) c.13451G>A (p.Arg4484His) c.13301G>A (p.Arg4434His) c.10001G>A (p.Arg3334His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
8 | g.143916467G>A | CA4923832 | PLEC | c.13486C>T (p.Arg4496Cys) c.13405C>T (p.Arg4469Cys) c.13072C>T (p.Arg4358Cys) c.13285C>T (p.Arg4429Cys) c.13354C>T (p.Arg4452Cys) c.10054C>T (p.Arg3352Cys) c.13765C>T (p.Arg4589Cys) c.13288C>T (p.Arg4430Cys) c.13312C>T (p.Arg4438Cys) c.13366C>T (p.Arg4456Cys) c.13258C>T (p.Arg4420Cys) c.13435C>T (p.Arg4479Cys) c.13423C>T (p.Arg4475Cys) c.13780C>T (p.Arg4594Cys) c.13381C>T (p.Arg4461Cys) c.13369C>T (p.Arg4457Cys) c.13327C>T (p.Arg4443Cys) c.13303C>T (p.Arg4435Cys) c.13273C>T (p.Arg4425Cys) c.13450C>T (p.Arg4484Cys) c.13300C>T (p.Arg4434Cys) c.10000C>T (p.Arg3334Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.143916467G>C | CA372474769 | PLEC | c.13486C>G (p.Arg4496Gly) c.13405C>G (p.Arg4469Gly) c.13072C>G (p.Arg4358Gly) c.13285C>G (p.Arg4429Gly) c.13354C>G (p.Arg4452Gly) c.10054C>G (p.Arg3352Gly) c.13765C>G (p.Arg4589Gly) c.13288C>G (p.Arg4430Gly) c.13312C>G (p.Arg4438Gly) c.13366C>G (p.Arg4456Gly) c.13258C>G (p.Arg4420Gly) c.13435C>G (p.Arg4479Gly) c.13423C>G (p.Arg4475Gly) c.13780C>G (p.Arg4594Gly) c.13381C>G (p.Arg4461Gly) c.13369C>G (p.Arg4457Gly) c.13327C>G (p.Arg4443Gly) c.13303C>G (p.Arg4435Gly) c.13273C>G (p.Arg4425Gly) c.13450C>G (p.Arg4484Gly) c.13300C>G (p.Arg4434Gly) c.10000C>G (p.Arg3334Gly) | |
8 | g.143916467G= | CA1826037231 | PLEC | c.13486C= (p.Arg4496=) c.13405C= (p.Arg4469=) c.13072C= (p.Arg4358=) c.13285C= (p.Arg4429=) c.13354C= (p.Arg4452=) c.10054C= (p.Arg3352=) c.13765C= (p.Arg4589=) c.13288C= (p.Arg4430=) c.13312C= (p.Arg4438=) c.13366C= (p.Arg4456=) c.13258C= (p.Arg4420=) c.13435C= (p.Arg4479=) c.13423C= (p.Arg4475=) c.13780C= (p.Arg4594=) c.13381C= (p.Arg4461=) c.13369C= (p.Arg4457=) c.13327C= (p.Arg4443=) c.13303C= (p.Arg4435=) c.13273C= (p.Arg4425=) c.13450C= (p.Arg4484=) c.13300C= (p.Arg4434=) c.10000C= (p.Arg3334=) | |
8 | g.143916467G>T | CA372474770 | PLEC | c.13486C>A (p.Arg4496Ser) c.13405C>A (p.Arg4469Ser) c.13072C>A (p.Arg4358Ser) c.13285C>A (p.Arg4429Ser) c.13354C>A (p.Arg4452Ser) c.10054C>A (p.Arg3352Ser) c.13765C>A (p.Arg4589Ser) c.13288C>A (p.Arg4430Ser) c.13312C>A (p.Arg4438Ser) c.13366C>A (p.Arg4456Ser) c.13258C>A (p.Arg4420Ser) c.13435C>A (p.Arg4479Ser) c.13423C>A (p.Arg4475Ser) c.13780C>A (p.Arg4594Ser) c.13381C>A (p.Arg4461Ser) c.13369C>A (p.Arg4457Ser) c.13327C>A (p.Arg4443Ser) c.13303C>A (p.Arg4435Ser) c.13273C>A (p.Arg4425Ser) c.13450C>A (p.Arg4484Ser) c.13300C>A (p.Arg4434Ser) c.10000C>A (p.Arg3334Ser) | |
8 | g.143916468G>A | CA463526547 | PLEC | c.13485C>T (p.Asp4495=) c.13404C>T (p.Asp4468=) c.13071C>T (p.Asp4357=) c.13284C>T (p.Asp4428=) c.13353C>T (p.Asp4451=) c.10053C>T (p.Asp3351=) c.13764C>T (p.Asp4588=) c.13287C>T (p.Asp4429=) c.13311C>T (p.Asp4437=) c.13365C>T (p.Asp4455=) c.13257C>T (p.Asp4419=) c.13434C>T (p.Asp4478=) c.13422C>T (p.Asp4474=) c.13779C>T (p.Asp4593=) c.13380C>T (p.Asp4460=) c.13368C>T (p.Asp4456=) c.13326C>T (p.Asp4442=) c.13302C>T (p.Asp4434=) c.13272C>T (p.Asp4424=) c.13449C>T (p.Asp4483=) c.13299C>T (p.Asp4433=) c.9999C>T (p.Asp3333=) | gnomAD v4 |
8 | g.143916468G>C | CA372474771 | PLEC | c.13485C>G (p.Asp4495Glu) c.13404C>G (p.Asp4468Glu) c.13071C>G (p.Asp4357Glu) c.13284C>G (p.Asp4428Glu) c.13353C>G (p.Asp4451Glu) c.10053C>G (p.Asp3351Glu) c.13764C>G (p.Asp4588Glu) c.13287C>G (p.Asp4429Glu) c.13311C>G (p.Asp4437Glu) c.13365C>G (p.Asp4455Glu) c.13257C>G (p.Asp4419Glu) c.13434C>G (p.Asp4478Glu) c.13422C>G (p.Asp4474Glu) c.13779C>G (p.Asp4593Glu) c.13380C>G (p.Asp4460Glu) c.13368C>G (p.Asp4456Glu) c.13326C>G (p.Asp4442Glu) c.13302C>G (p.Asp4434Glu) c.13272C>G (p.Asp4424Glu) c.13449C>G (p.Asp4483Glu) c.13299C>G (p.Asp4433Glu) c.9999C>G (p.Asp3333Glu) | |
8 | g.143916468G>T | CA372474772 | PLEC | c.13485C>A (p.Asp4495Glu) c.13404C>A (p.Asp4468Glu) c.13071C>A (p.Asp4357Glu) c.13284C>A (p.Asp4428Glu) c.13353C>A (p.Asp4451Glu) c.10053C>A (p.Asp3351Glu) c.13764C>A (p.Asp4588Glu) c.13287C>A (p.Asp4429Glu) c.13311C>A (p.Asp4437Glu) c.13365C>A (p.Asp4455Glu) c.13257C>A (p.Asp4419Glu) c.13434C>A (p.Asp4478Glu) c.13422C>A (p.Asp4474Glu) c.13779C>A (p.Asp4593Glu) c.13380C>A (p.Asp4460Glu) c.13368C>A (p.Asp4456Glu) c.13326C>A (p.Asp4442Glu) c.13302C>A (p.Asp4434Glu) c.13272C>A (p.Asp4424Glu) c.13449C>A (p.Asp4483Glu) c.13299C>A (p.Asp4433Glu) c.9999C>A (p.Asp3333Glu) | |
8 | g.143916469T>A | CA372474773 | PLEC | c.13484A>T (p.Asp4495Val) c.13403A>T (p.Asp4468Val) c.13070A>T (p.Asp4357Val) c.13283A>T (p.Asp4428Val) c.13352A>T (p.Asp4451Val) c.10052A>T (p.Asp3351Val) c.13763A>T (p.Asp4588Val) c.13286A>T (p.Asp4429Val) c.13310A>T (p.Asp4437Val) c.13364A>T (p.Asp4455Val) c.13256A>T (p.Asp4419Val) c.13433A>T (p.Asp4478Val) c.13421A>T (p.Asp4474Val) c.13778A>T (p.Asp4593Val) c.13379A>T (p.Asp4460Val) c.13367A>T (p.Asp4456Val) c.13325A>T (p.Asp4442Val) c.13301A>T (p.Asp4434Val) c.13271A>T (p.Asp4424Val) c.13448A>T (p.Asp4483Val) c.13298A>T (p.Asp4433Val) c.9998A>T (p.Asp3333Val) | |
8 | g.143916469T>C | CA372474774 | PLEC | c.13484A>G (p.Asp4495Gly) c.13403A>G (p.Asp4468Gly) c.13070A>G (p.Asp4357Gly) c.13283A>G (p.Asp4428Gly) c.13352A>G (p.Asp4451Gly) c.10052A>G (p.Asp3351Gly) c.13763A>G (p.Asp4588Gly) c.13286A>G (p.Asp4429Gly) c.13310A>G (p.Asp4437Gly) c.13364A>G (p.Asp4455Gly) c.13256A>G (p.Asp4419Gly) c.13433A>G (p.Asp4478Gly) c.13421A>G (p.Asp4474Gly) c.13778A>G (p.Asp4593Gly) c.13379A>G (p.Asp4460Gly) c.13367A>G (p.Asp4456Gly) c.13325A>G (p.Asp4442Gly) c.13301A>G (p.Asp4434Gly) c.13271A>G (p.Asp4424Gly) c.13448A>G (p.Asp4483Gly) c.13298A>G (p.Asp4433Gly) c.9998A>G (p.Asp3333Gly) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
8 | g.143916469T>G | CA372474775 | PLEC | c.13484A>C (p.Asp4495Ala) c.13403A>C (p.Asp4468Ala) c.13070A>C (p.Asp4357Ala) c.13283A>C (p.Asp4428Ala) c.13352A>C (p.Asp4451Ala) c.10052A>C (p.Asp3351Ala) c.13763A>C (p.Asp4588Ala) c.13286A>C (p.Asp4429Ala) c.13310A>C (p.Asp4437Ala) c.13364A>C (p.Asp4455Ala) c.13256A>C (p.Asp4419Ala) c.13433A>C (p.Asp4478Ala) c.13421A>C (p.Asp4474Ala) c.13778A>C (p.Asp4593Ala) c.13379A>C (p.Asp4460Ala) c.13367A>C (p.Asp4456Ala) c.13325A>C (p.Asp4442Ala) c.13301A>C (p.Asp4434Ala) c.13271A>C (p.Asp4424Ala) c.13448A>C (p.Asp4483Ala) c.13298A>C (p.Asp4433Ala) c.9998A>C (p.Asp3333Ala) | |
8 | g.143916469T= | CA1826037235 | PLEC | c.13484A= (p.Asp4495=) c.13403A= (p.Asp4468=) c.13070A= (p.Asp4357=) c.13283A= (p.Asp4428=) c.13352A= (p.Asp4451=) c.10052A= (p.Asp3351=) c.13763A= (p.Asp4588=) c.13286A= (p.Asp4429=) c.13310A= (p.Asp4437=) c.13364A= (p.Asp4455=) c.13256A= (p.Asp4419=) c.13433A= (p.Asp4478=) c.13421A= (p.Asp4474=) c.13778A= (p.Asp4593=) c.13379A= (p.Asp4460=) c.13367A= (p.Asp4456=) c.13325A= (p.Asp4442=) c.13301A= (p.Asp4434=) c.13271A= (p.Asp4424=) c.13448A= (p.Asp4483=) c.13298A= (p.Asp4433=) c.9998A= (p.Asp3333=) | |
8 | g.143916470C>A | CA372474778 | PLEC | c.13483G>T (p.Asp4495Tyr) c.13402G>T (p.Asp4468Tyr) c.13069G>T (p.Asp4357Tyr) c.13282G>T (p.Asp4428Tyr) c.13351G>T (p.Asp4451Tyr) c.10051G>T (p.Asp3351Tyr) c.13762G>T (p.Asp4588Tyr) c.13285G>T (p.Asp4429Tyr) c.13309G>T (p.Asp4437Tyr) c.13363G>T (p.Asp4455Tyr) c.13255G>T (p.Asp4419Tyr) c.13432G>T (p.Asp4478Tyr) c.13420G>T (p.Asp4474Tyr) c.13777G>T (p.Asp4593Tyr) c.13378G>T (p.Asp4460Tyr) c.13366G>T (p.Asp4456Tyr) c.13324G>T (p.Asp4442Tyr) c.13300G>T (p.Asp4434Tyr) c.13270G>T (p.Asp4424Tyr) c.13447G>T (p.Asp4483Tyr) c.13297G>T (p.Asp4433Tyr) c.9997G>T (p.Asp3333Tyr) | dbSNP |
8 | g.143916470C= | CA1826037237 | PLEC | c.13483G= (p.Asp4495=) c.13402G= (p.Asp4468=) c.13069G= (p.Asp4357=) c.13282G= (p.Asp4428=) c.13351G= (p.Asp4451=) c.10051G= (p.Asp3351=) c.13762G= (p.Asp4588=) c.13285G= (p.Asp4429=) c.13309G= (p.Asp4437=) c.13363G= (p.Asp4455=) c.13255G= (p.Asp4419=) c.13432G= (p.Asp4478=) c.13420G= (p.Asp4474=) c.13777G= (p.Asp4593=) c.13378G= (p.Asp4460=) c.13366G= (p.Asp4456=) c.13324G= (p.Asp4442=) c.13300G= (p.Asp4434=) c.13270G= (p.Asp4424=) c.13447G= (p.Asp4483=) c.13297G= (p.Asp4433=) c.9997G= (p.Asp3333=) | |
8 | g.143916470C>G | CA372474777 | PLEC | c.13483G>C (p.Asp4495His) c.13402G>C (p.Asp4468His) c.13069G>C (p.Asp4357His) c.13282G>C (p.Asp4428His) c.13351G>C (p.Asp4451His) c.10051G>C (p.Asp3351His) c.13762G>C (p.Asp4588His) c.13285G>C (p.Asp4429His) c.13309G>C (p.Asp4437His) c.13363G>C (p.Asp4455His) c.13255G>C (p.Asp4419His) c.13432G>C (p.Asp4478His) c.13420G>C (p.Asp4474His) c.13777G>C (p.Asp4593His) c.13378G>C (p.Asp4460His) c.13366G>C (p.Asp4456His) c.13324G>C (p.Asp4442His) c.13300G>C (p.Asp4434His) c.13270G>C (p.Asp4424His) c.13447G>C (p.Asp4483His) c.13297G>C (p.Asp4433His) c.9997G>C (p.Asp3333His) | gnomAD v4 |
8 | g.143916470C>T | CA372474776 | PLEC | c.13483G>A (p.Asp4495Asn) c.13402G>A (p.Asp4468Asn) c.13069G>A (p.Asp4357Asn) c.13282G>A (p.Asp4428Asn) c.13351G>A (p.Asp4451Asn) c.10051G>A (p.Asp3351Asn) c.13762G>A (p.Asp4588Asn) c.13285G>A (p.Asp4429Asn) c.13309G>A (p.Asp4437Asn) c.13363G>A (p.Asp4455Asn) c.13255G>A (p.Asp4419Asn) c.13432G>A (p.Asp4478Asn) c.13420G>A (p.Asp4474Asn) c.13777G>A (p.Asp4593Asn) c.13378G>A (p.Asp4460Asn) c.13366G>A (p.Asp4456Asn) c.13324G>A (p.Asp4442Asn) c.13300G>A (p.Asp4434Asn) c.13270G>A (p.Asp4424Asn) c.13447G>A (p.Asp4483Asn) c.13297G>A (p.Asp4433Asn) c.9997G>A (p.Asp3333Asn) | |
8 | g.143916471C>A | CA463526551 | PLEC | c.13482G>T (p.Leu4494=) c.13401G>T (p.Leu4467=) c.13068G>T (p.Leu4356=) c.13281G>T (p.Leu4427=) c.13350G>T (p.Leu4450=) c.10050G>T (p.Leu3350=) c.13761G>T (p.Leu4587=) c.13284G>T (p.Leu4428=) c.13308G>T (p.Leu4436=) c.13362G>T (p.Leu4454=) c.13254G>T (p.Leu4418=) c.13431G>T (p.Leu4477=) c.13419G>T (p.Leu4473=) c.13776G>T (p.Leu4592=) c.13377G>T (p.Leu4459=) c.13365G>T (p.Leu4455=) c.13323G>T (p.Leu4441=) c.13299G>T (p.Leu4433=) c.13269G>T (p.Leu4423=) c.13446G>T (p.Leu4482=) c.13296G>T (p.Leu4432=) c.9996G>T (p.Leu3332=) | |
8 | g.143916471C= | CA1826037240 | PLEC | c.13482G= (p.Leu4494=) c.13401G= (p.Leu4467=) c.13068G= (p.Leu4356=) c.13281G= (p.Leu4427=) c.13350G= (p.Leu4450=) c.10050G= (p.Leu3350=) c.13761G= (p.Leu4587=) c.13284G= (p.Leu4428=) c.13308G= (p.Leu4436=) c.13362G= (p.Leu4454=) c.13254G= (p.Leu4418=) c.13431G= (p.Leu4477=) c.13419G= (p.Leu4473=) c.13776G= (p.Leu4592=) c.13377G= (p.Leu4459=) c.13365G= (p.Leu4455=) c.13323G= (p.Leu4441=) c.13299G= (p.Leu4433=) c.13269G= (p.Leu4423=) c.13446G= (p.Leu4482=) c.13296G= (p.Leu4432=) c.9996G= (p.Leu3332=) | |
8 | g.143916471C>G | CA463526552 | PLEC | c.13482G>C (p.Leu4494=) c.13401G>C (p.Leu4467=) c.13068G>C (p.Leu4356=) c.13281G>C (p.Leu4427=) c.13350G>C (p.Leu4450=) c.10050G>C (p.Leu3350=) c.13761G>C (p.Leu4587=) c.13284G>C (p.Leu4428=) c.13308G>C (p.Leu4436=) c.13362G>C (p.Leu4454=) c.13254G>C (p.Leu4418=) c.13431G>C (p.Leu4477=) c.13419G>C (p.Leu4473=) c.13776G>C (p.Leu4592=) c.13377G>C (p.Leu4459=) c.13365G>C (p.Leu4455=) c.13323G>C (p.Leu4441=) c.13299G>C (p.Leu4433=) c.13269G>C (p.Leu4423=) c.13446G>C (p.Leu4482=) c.13296G>C (p.Leu4432=) c.9996G>C (p.Leu3332=) | |
8 | g.143916471C>T | CA4923833 | PLEC | c.13482G>A (p.Leu4494=) c.13401G>A (p.Leu4467=) c.13068G>A (p.Leu4356=) c.13281G>A (p.Leu4427=) c.13350G>A (p.Leu4450=) c.10050G>A (p.Leu3350=) c.13761G>A (p.Leu4587=) c.13284G>A (p.Leu4428=) c.13308G>A (p.Leu4436=) c.13362G>A (p.Leu4454=) c.13254G>A (p.Leu4418=) c.13431G>A (p.Leu4477=) c.13419G>A (p.Leu4473=) c.13776G>A (p.Leu4592=) c.13377G>A (p.Leu4459=) c.13365G>A (p.Leu4455=) c.13323G>A (p.Leu4441=) c.13299G>A (p.Leu4433=) c.13269G>A (p.Leu4423=) c.13446G>A (p.Leu4482=) c.13296G>A (p.Leu4432=) c.9996G>A (p.Leu3332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143916472A>C | CA372474779 | PLEC | c.13481T>G (p.Leu4494Arg) c.13400T>G (p.Leu4467Arg) c.13067T>G (p.Leu4356Arg) c.13280T>G (p.Leu4427Arg) c.13349T>G (p.Leu4450Arg) c.10049T>G (p.Leu3350Arg) c.13760T>G (p.Leu4587Arg) c.13283T>G (p.Leu4428Arg) c.13307T>G (p.Leu4436Arg) c.13361T>G (p.Leu4454Arg) c.13253T>G (p.Leu4418Arg) c.13430T>G (p.Leu4477Arg) c.13418T>G (p.Leu4473Arg) c.13775T>G (p.Leu4592Arg) c.13376T>G (p.Leu4459Arg) c.13364T>G (p.Leu4455Arg) c.13322T>G (p.Leu4441Arg) c.13298T>G (p.Leu4433Arg) c.13268T>G (p.Leu4423Arg) c.13445T>G (p.Leu4482Arg) c.13295T>G (p.Leu4432Arg) c.9995T>G (p.Leu3332Arg) | |
8 | g.143916472A>G | CA372474780 | PLEC | c.13481T>C (p.Leu4494Pro) c.13400T>C (p.Leu4467Pro) c.13067T>C (p.Leu4356Pro) c.13280T>C (p.Leu4427Pro) c.13349T>C (p.Leu4450Pro) c.10049T>C (p.Leu3350Pro) c.13760T>C (p.Leu4587Pro) c.13283T>C (p.Leu4428Pro) c.13307T>C (p.Leu4436Pro) c.13361T>C (p.Leu4454Pro) c.13253T>C (p.Leu4418Pro) c.13430T>C (p.Leu4477Pro) c.13418T>C (p.Leu4473Pro) c.13775T>C (p.Leu4592Pro) c.13376T>C (p.Leu4459Pro) c.13364T>C (p.Leu4455Pro) c.13322T>C (p.Leu4441Pro) c.13298T>C (p.Leu4433Pro) c.13268T>C (p.Leu4423Pro) c.13445T>C (p.Leu4482Pro) c.13295T>C (p.Leu4432Pro) c.9995T>C (p.Leu3332Pro) | |
8 | g.143916472A>T | CA372474781 | PLEC | c.13481T>A (p.Leu4494Gln) c.13400T>A (p.Leu4467Gln) c.13067T>A (p.Leu4356Gln) c.13280T>A (p.Leu4427Gln) c.13349T>A (p.Leu4450Gln) c.10049T>A (p.Leu3350Gln) c.13760T>A (p.Leu4587Gln) c.13283T>A (p.Leu4428Gln) c.13307T>A (p.Leu4436Gln) c.13361T>A (p.Leu4454Gln) c.13253T>A (p.Leu4418Gln) c.13430T>A (p.Leu4477Gln) c.13418T>A (p.Leu4473Gln) c.13775T>A (p.Leu4592Gln) c.13376T>A (p.Leu4459Gln) c.13364T>A (p.Leu4455Gln) c.13322T>A (p.Leu4441Gln) c.13298T>A (p.Leu4433Gln) c.13268T>A (p.Leu4423Gln) c.13445T>A (p.Leu4482Gln) c.13295T>A (p.Leu4432Gln) c.9995T>A (p.Leu3332Gln) | |
8 | g.143916473G>A | CA463526553 | PLEC | c.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=) | |
8 | g.143916473G>C | CA372474783 | PLEC | c.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) | |
8 | g.143916473G>T | CA372474784 | PLEC | c.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 |
8 | g.143916474C>A | CA463526557 | PLEC | c.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 |
8 | g.143916474C= | CA1826037243 | PLEC | c.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=) | |
8 | g.143916474C>G | CA463526556 | PLEC | c.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=) | |
8 | g.143916474C>T | CA4923834 | PLEC | c.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 |
8 | g.143916475G>A | CA4923835 | PLEC | c.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 |
8 | g.143916475G>C | CA372474786 | PLEC | c.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) | |
8 | g.143916475G= | CA1826037246 | PLEC | c.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=) | |
8 | g.143916475G>T | CA372474787 | PLEC | c.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) | |
8 | g.143916476C>A | CA372475596 | PLEC | c.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) | |
8 | g.143916476C= | CA1826037250 | PLEC | c.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=) | |
8 | g.143916476C>G | CA372475597 | PLEC | c.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) | |
8 | g.143916476C>T | CA4923836 | PLEC | c.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 |
8 | g.143916477G>A | CA4923837 | PLEC | c.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 |
8 | g.143916477G>C | CA372475598 | PLEC | c.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) | |
8 | g.143916477G= | CA1826037252 | PLEC | c.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=) | |
8 | g.143916477G>T | CA4923838 | PLEC | c.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 |
8 | g.143916478T>A | CA372475599 | PLEC | c.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) | |
8 | g.143916478T>C | CA372475600 | PLEC | c.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) | |
8 | g.143916478T>G | CA372475601 | PLEC | c.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) | |
8 | g.143916479C>A | CA372475602 | PLEC | c.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) | |
8 | g.143916479C>G | CA372475603 | PLEC | c.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) | |
8 | g.143916479C>T | CA372475604 | PLEC | c.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) | |
8 | g.143916480C>A | CA372475605 | PLEC | c.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) | |
8 | g.143916480C= | CA1826037254 | PLEC | c.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=) | |
8 | g.143916480C>G | CA372475606 | PLEC | c.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 |
8 | g.143916480C>T | CA463525597 | PLEC | c.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=) | |
8 | g.143916481T>A | CA372475607 | PLEC | c.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) | |
8 | g.143916481T>C | CA372475608 | PLEC | c.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) | |
8 | g.143916481T>G | CA372475609 | PLEC | c.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 |
8 | g.143916481T= | CA1826037256 | PLEC | c.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=) | |
8 | g.143916482T>A | CA372475610 | PLEC | c.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) | |
8 | g.143916482T>C | CA372475611 | PLEC | c.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) | |
8 | g.143916482T>G | CA372475612 | PLEC | c.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) | |
8 | g.143916483A>C | CA372475614 | PLEC | c.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) | |
8 | g.143916483A>G | CA463525601 | PLEC | c.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=) | |
8 | g.143916483A>T | CA372475613 | PLEC | c.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) | |
8 | g.143916484T>A | CA372475615 | PLEC | c.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 |
8 | g.143916484T>C | CA372475616 | PLEC | c.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 |
8 | g.143916484T>G | CA372475617 | PLEC | c.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) | |
8 | g.143916484_143916487delinsTAGG | CA1826037257 | PLEC | c.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=) | |
8 | g.143916485A>C | CA372475618 | PLEC | c.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 |
8 | g.143916485A>G | CA372475619 | PLEC | c.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) | |
8 | g.143916485A>T | CA372475620 | PLEC | c.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) | |
8 | g.143916487_143916489del | CA848820434 | PLEC | c.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 |
8 | g.143916486G>A | CA463525607 | PLEC | c.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 |
8 | g.143916486G>C | CA463525606 | PLEC | c.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=) | |
8 | g.143916486G= | CA1826037262 | PLEC | c.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=) | |
8 | g.143916486G>T | CA463525605 | PLEC | c.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 |
8 | g.143916487G>A | CA372475621 | PLEC | c.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) | |
8 | g.143916487G>C | CA372475622 | PLEC | c.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) | |
8 | g.143916487G>T | CA372475623 | PLEC | c.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) | |
8 | g.143916488A>C | CA372475624 | PLEC | c.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) | |
8 | g.143916488A>G | CA372475625 | PLEC | c.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) | |
8 | g.143916488A>T | CA372475626 | PLEC | c.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) | |
8 | g.143916489G>A | CA463525610 | PLEC | c.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 |
8 | g.143916489G>C | CA372475627 | PLEC | c.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 |
8 | g.143916489G= | CA1826037264 | PLEC | c.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=) | |
8 | g.143916489G>T | CA463525612 | PLEC | c.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 |
8 | g.143916490A>C | CA372475628 | PLEC | c.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) | |
8 | g.143916490A>G | CA372475630 | PLEC | c.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) | |
8 | g.143916490A>T | CA372475629 | PLEC | c.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) | |
8 | g.143916491T>A | CA372475631 | PLEC | c.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) | |
8 | g.143916491T>C | CA4923839 | PLEC | c.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 |
8 | g.143916491T>G | CA372475632 | PLEC | c.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) | |
8 | g.143916491T= | CA1826037266 | PLEC | c.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=) | |
8 | g.143916492C>A | CA372475633 | PLEC | c.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) | |
8 | g.143916492C= | CA1826037269 | PLEC | c.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=) | |
8 | g.143916492C>G | CA372475634 | PLEC | c.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 |
8 | g.143916492C>T | CA463525613 | PLEC | c.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 |
8 | g.143916493T>A | CA372475635 | PLEC | c.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) | |
8 | g.143916493T>C | CA372475636 | PLEC | c.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 |
8 | g.143916493T>G | CA372475637 | PLEC | c.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) | |
8 | g.143916493T= | CA1826037271 | PLEC | c.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=) | |
8 | g.143916494T>A | CA372475638 | PLEC | c.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) | |
8 | g.143916494T>C | CA372475639 | PLEC | c.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 |
8 | g.143916494T>G | CA372475640 | PLEC | c.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 |
8 | g.143916494T= | CA1826037272 | PLEC | c.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=) | |
8 | g.143916495G>A | CA463525619 | PLEC | c.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 |
8 | g.143916495G>C | CA463525616 | PLEC | c.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 |
8 | g.143916495G>T | CA463525618 | PLEC | c.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=) | |
8 | g.143916496A>C | CA372475643 | PLEC | c.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) | |
8 | g.143916496A>G | CA372475642 | PLEC | c.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) | |
8 | g.143916496A>T | CA372475641 | PLEC | c.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) | |
8 | g.143916497G>A | CA4923840 | PLEC | c.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 |
8 | g.143916497G>C | CA372475644 | PLEC | c.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) | |
8 | g.143916497G= | CA1826037274 | PLEC | c.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=) | |
8 | g.143916497G>T | CA372475645 | PLEC | c.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) | |
8 | g.143916498C>A | CA372475646 | PLEC | c.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) | |
8 | g.143916498C= | CA1826037276 | PLEC | c.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=) | |
8 | g.143916498C>G | CA372475647 | PLEC | c.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 |
8 | g.143916498C>T | CA463525623 | PLEC | c.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 |
8 | g.143916499T>A | CA372475648 | PLEC | c.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) | |
8 | g.143916499T>C | CA372475649 | PLEC | c.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) | |
8 | g.143916499T>G | CA372475650 | PLEC | c.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) | |
8 | g.143916500T>A | CA372475651 | PLEC | c.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) | |
8 | g.143916500T>C | CA372475652 | PLEC | c.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) | |
8 | g.143916500T>G | CA372475653 | PLEC | c.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) | |
8 | g.143916501G>A | CA463525628 | PLEC | c.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 |
8 | g.143916501G>C | CA4923841 | PLEC | c.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 |
8 | g.143916501G= | CA1826037278 | PLEC | c.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=) | |
8 | g.143916501G>T | CA463525629 | PLEC | c.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=) | |
8 | g.143916502G>A | CA372475655 | PLEC | c.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 |
8 | g.143916502G>C | CA4923842 | PLEC | c.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 |
8 | g.143916502G= | CA1826037280 | PLEC | c.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=) | |
8 | g.143916502G>T | CA372475654 | PLEC | c.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) | |
8 | g.143916503T>A | CA372475658 | PLEC | c.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 |
8 | g.143916503T>C | CA372475656 | PLEC | c.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) | |
8 | g.143916503T>G | CA372475657 | PLEC | c.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) | |
8 | g.143916504C>A | CA372475659 | PLEC | c.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) | |
8 | g.143916504C>G | CA372475660 | PLEC | c.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) | |
8 | g.143916504C>T | CA463525632 | PLEC | c.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 |
8 | g.143916505T>A | CA372475661 | PLEC | c.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 |
8 | g.143916505T>C | CA372475662 | PLEC | c.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) | |
8 | g.143916505T>G | CA372475663 | PLEC | c.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) | |
8 | g.143916506T>A | CA372475664 | PLEC | c.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) | |
8 | g.143916506T>C | CA4923843 | PLEC | c.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 |
8 | g.143916506T>G | CA372475665 | PLEC | c.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) | |
8 | g.143916506T= | CA1826037282 | PLEC | c.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=) | |
8 | g.143916507A= | CA1826037286 | PLEC | c.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=) | |
8 | g.143916507A>C | CA463525639 | PLEC | c.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 |
8 | g.143916507A>G | CA463525636 | PLEC | c.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 |
8 | g.143916507A>T | CA463525638 | PLEC | c.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=) | |
8 | g.143916508G>A | CA4923844 | PLEC | c.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 |
8 | g.143916508G>C | CA372475666 | PLEC | c.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) | |
8 | g.143916508G= | CA1826037288 | PLEC | c.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=) | |
8 | g.143916508G>T | CA372475667 | PLEC | c.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 |
8 | g.143916509G>A | CA372475670 | PLEC | c.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 |
8 | g.143916509G>C | CA372475669 | PLEC | c.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) | |
8 | g.143916509G= | CA1826037290 | PLEC | c.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=) | |
8 | g.143916509G>T | CA372475668 | PLEC | c.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) | |
8 | g.143916510G>A | CA4923845 | PLEC | c.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 |
8 | g.143916510G>C | CA372475671 | PLEC | c.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) | |
8 | g.143916510G= | CA1826037291 | PLEC | c.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=) | |
8 | g.143916510G>T | CA372475672 | PLEC | c.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) | |
8 | g.143916511C>A | CA187606582 | PLEC | c.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 |
8 | g.143916511C= | CA1826037293 | PLEC | c.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=) | |
8 | g.143916511C>G | CA372475673 | PLEC | c.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) | |
8 | g.143916511C>T | CA372475674 | PLEC | c.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 |
8 | g.143916512A>C | CA372475675 | PLEC | c.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) | |
8 | g.143916512A>G | CA372475676 | PLEC | c.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) | |
8 | g.143916512A>T | CA372475677 | PLEC | c.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) | |
8 | g.143916513G>A | CA4923846 | PLEC | c.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 |
8 | g.143916513G>C | CA463525647 | PLEC | c.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 |
8 | g.143916513G= | CA1826037295 | PLEC | c.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=) | |
8 | g.143916513G>T | CA463525649 | PLEC | c.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=) | |
8 | g.143916514G>A | CA372475678 | PLEC | c.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 |
8 | g.143916514G>C | CA372475679 | PLEC | c.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 |
8 | g.143916514G= | CA1826037300 | PLEC | c.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=) | |
8 | g.143916514G>T | CA372475680 | PLEC | c.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) | |
8 | g.143916515T>A | CA372475682 | PLEC | c.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) | |
8 | g.143916515T>C | CA372475683 | PLEC | c.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 |
8 | g.143916515T>G | CA372475681 | PLEC | c.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) | |
8 | g.143916516G>A | CA4923847 | PLEC | c.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 |
8 | g.143916516G>C | CA463525651 | PLEC | c.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=) | |
8 | g.143916516G= | CA1826037302 | PLEC | c.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=) | |
8 | g.143916516G>T | CA463525652 | PLEC | c.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=) | |
8 | g.143916517A>C | CA372475684 | PLEC | c.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) | |
8 | g.143916517A>G | CA372475685 | PLEC | c.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) | |
8 | g.143916517A>T | CA372475686 | PLEC | c.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) | |
8 | g.143916518G>A | CA372475687 | PLEC | c.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) | |
8 | g.143916518G>C | CA372475688 | PLEC | c.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 |
8 | g.143916518G= | CA1826037306 | PLEC | c.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=) | |
8 | g.143916518G>T | CA372475689 | PLEC | c.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) | |
8 | g.143916519G>A | CA463525655 | PLEC | c.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 |
8 | g.143916519G>C | CA372475690 | PLEC | c.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) | |
8 | g.143916519G= | CA1826037308 | PLEC | c.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=) | |
8 | g.143916519G>T | CA372475691 | PLEC | c.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) | |
8 | g.143916520T>A | CA372475692 | PLEC | c.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 |
8 | g.143916520T>C | CA372475693 | PLEC | c.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) | |
8 | g.143916520T>G | CA372475694 | PLEC | c.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) | |
8 | g.143916520T= | CA1826037310 | PLEC | c.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=) | |
8 | g.143916521A>C | CA372475697 | PLEC | c.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) | |
8 | g.143916521A>G | CA372475695 | PLEC | c.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 |
8 | g.143916521A>T | CA372475696 | PLEC | c.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) | |
8 | g.143916522C>A | CA372475698 | PLEC | c.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) | |
8 | g.143916522C= | CA1826037313 | PLEC | c.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=) | |
8 | g.143916522C>G | CA372475699 | PLEC | c.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) | |
8 | g.143916522C>T | CA463525658 | PLEC | c.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 |
8 | g.143916523T>A | CA372475700 | PLEC | c.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) | |
8 | g.143916523T>C | CA187606593 | PLEC | c.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 |
8 | g.143916523T>G | CA372475701 | PLEC | c.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) | |
8 | g.143916523T= | CA1826037315 | PLEC | c.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=) | |
8 | g.143916524T>A | CA249137 | PLEC | c.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 |
8 | g.143916524T>C | CA372475702 | PLEC | c.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) | |
8 | g.143916524T>G | CA372475703 | PLEC | c.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) | |
8 | g.143916524T= | CA1826037318 | PLEC | c.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=) | |
8 | g.143916525G>A | CA4923848 | PLEC | c.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 |
8 | g.143916525G>C | CA463525662 | PLEC | c.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 |
8 | g.143916525G= | CA1826037323 | PLEC | c.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=) | |
8 | g.143916525G>T | CA463525664 | PLEC | c.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=) | |
8 | g.143916526G>A | CA372475704 | PLEC | c.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 |
8 | g.143916526G>C | CA372475705 | PLEC | c.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) | |
8 | g.143916526G>T | CA372475706 | PLEC | c.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) | |
8 | g.143916527A>C | CA372475708 | PLEC | c.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) | |
8 | g.143916527A>G | CA372475709 | PLEC | c.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) | |
8 | g.143916527A>T | CA372475707 | PLEC | c.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) | |
8 | g.143916528G>A | CA463525667 | PLEC | c.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 |
8 | g.143916528G>C | CA372475710 | PLEC | c.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) | |
8 | g.143916528G>T | CA372475711 | PLEC | c.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) | |
8 | g.143916529T>A | CA372475712 | PLEC | c.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 |
8 | g.143916529T>C | CA372475713 | PLEC | c.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) | |
8 | g.143916529T>G | CA372475714 | PLEC | c.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 |
8 | g.143916530A>C | CA372475717 | PLEC | c.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) | |
8 | g.143916530A>G | CA372475716 | PLEC | c.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) | |
8 | g.143916530A>T | CA372475715 | PLEC | c.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) | |
8 | g.143916531G>A | CA463525669 | PLEC | c.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 |
8 | g.143916531G>C | CA463525670 | PLEC | c.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=) | |
8 | g.143916531G= | CA1826037326 | PLEC | c.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=) | |
8 | g.143916531G>T | CA463525671 | PLEC | c.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=) | |
8 | g.143916532G>A | CA372475718 | PLEC | c.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 |
8 | g.143916532G>C | CA372475719 | PLEC | c.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 |
8 | g.143916532G= | CA1826037329 | PLEC | c.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=) | |
8 | g.143916532G>T | CA372475720 | PLEC | c.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 |
8 | g.143916533C>A | CA372475721 | PLEC | c.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) | |
8 | g.143916533C= | CA1826037333 | PLEC | c.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=) | |
8 | g.143916533C>G | CA372475722 | PLEC | c.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) | |
8 | g.143916533C>T | CA4923849 | PLEC | c.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 |
8 | g.143916534G>A | CA463525672 | PLEC | c.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 |
8 | g.143916534G>C | CA463525673 | PLEC | c.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=) | |
8 | g.143916534G= | CA1826037338 | PLEC | c.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=) | |
8 | g.143916534G>T | CA244424 | PLEC | c.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 |
8 | g.143916535C>A | CA372475723 | PLEC | c.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 |
8 | g.143916535C= | CA1826037340 | PLEC | c.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=) | |
8 | g.143916535C>G | CA372475725 | PLEC | c.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 |
8 | g.143916535C>T | CA372475724 | PLEC | c.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) | |
8 | g.143916536C>A | CA372475726 | PLEC | c.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 |
8 | g.143916536C= | CA1826037342 | PLEC | c.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=) | |
8 | g.143916536C>G | CA372475727 | PLEC | c.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) | |
8 | g.143916536C>T | CA4923850 | PLEC | c.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 |
8 | g.143916537C>A | CA463525674 | PLEC | c.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=) | |
8 | g.143916537C= | CA1826037344 | PLEC | c.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=) | |
8 | g.143916537C>G | CA463525675 | PLEC | c.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=) | |
8 | g.143916537C>T | CA463525676 | PLEC | c.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 |
8 | g.143916538A= | CA1826037346 | PLEC | c.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=) | |
8 | g.143916538A>C | CA372475728 | PLEC | c.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) | |
8 | g.143916538A>G | CA4923851 | PLEC | c.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 |
8 | g.143916538A>T | CA372475729 | PLEC | c.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) | |
8 | g.143916539C>A | CA372475730 | PLEC | c.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 |
8 | g.143916539C= | CA1826037349 | PLEC | c.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=) | |
8 | g.143916539C>G | CA372475731 | PLEC | c.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 |
8 | g.143916539C>T | CA4923852 | PLEC | c.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 |
8 | g.143916540G>A | CA4923853 | PLEC | c.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 |
8 | g.143916540G>C | CA372475732 | PLEC | c.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 |
8 | g.143916540G= | CA1826037350 | PLEC | c.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=) | |
8 | g.143916540G>T | CA372475733 | PLEC | c.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 |
8 | g.143916541T>A | CA372475734 | PLEC | c.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) | |
8 | g.143916541T>C | CA372475736 | PLEC | c.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 |
8 | g.143916541T>G | CA372475735 | PLEC | c.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) | |
8 | g.143916542C>A | CA372475737 | PLEC | c.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 |
8 | g.143916542C>G | CA372475738 | PLEC | c.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) | |
8 | g.143916542C>T | CA372475739 | PLEC | c.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) | |
8 | g.143916543A>C | CA463525677 | PLEC | c.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=) | |
8 | g.143916543A>G | CA463525678 | PLEC | c.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=) | |
8 | g.143916543A>T | CA463525679 | PLEC | c.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=) | |
8 | g.143916544C>A | CA372475740 | PLEC | c.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) | |
8 | g.143916544C= | CA1826037353 | PLEC | c.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=) | |
8 | g.143916544C>G | CA372475741 | PLEC | c.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) | |
8 | g.143916544C>T | CA4923854 | PLEC | c.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 |
8 | g.143916545G>A | CA4923855 | PLEC | c.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 |
8 | g.143916545G>C | CA372475742 | PLEC | c.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) | |
8 | g.143916545G= | CA1826037361 | PLEC | c.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=) | |
8 | g.143916545G>T | CA372475743 | PLEC | c.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) | |
8 | g.143916546C>A | CA463525680 | PLEC | c.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=) | |
8 | g.143916546C>G | CA463525681 | PLEC | c.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=) | |
8 | g.143916546C>T | CA463525682 | PLEC | c.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 |
8 | g.143916547A>C | CA372475744 | PLEC | c.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) | |
8 | g.143916547A>G | CA372475745 | PLEC | c.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) | |
8 | g.143916547A>T | CA372475746 | PLEC | c.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) | |
8 | g.143916548G>A | CA463525683 | PLEC | c.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=) | |
8 | g.143916548G>C | CA372475747 | PLEC | c.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 |
8 | g.143916548G= | CA1826037363 | PLEC | c.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=) | |
8 | g.143916548G>T | CA372475748 | PLEC | c.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 |
8 | g.143916549C>A | CA372475749 | PLEC | c.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) | |
8 | g.143916549C= | CA1826037367 | PLEC | c.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=) | |
8 | g.143916549C>G | CA372475750 | PLEC | c.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) | |
8 | g.143916549C>T | CA4923856 | PLEC | c.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 |
8 | g.143916550T>A | CA372475751 | PLEC | c.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) | |
8 | g.143916550T>C | CA372475753 | PLEC | c.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 |
8 | g.143916550T>G | CA372475755 | PLEC | c.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) | |
8 | g.143916550T= | CA1826037369 | PLEC | c.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=) | |
8 | g.143916551T>A | CA372475756 | PLEC | c.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) | |
8 | g.143916551T>C | CA372475758 | PLEC | c.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) | |
8 | g.143916551T>G | CA372475759 | PLEC | c.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) | |
8 | g.143916552_143916553del | CA645567820 | PLEC | c.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 |
8 | g.143916552C>A | CA372475762 | PLEC | c.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) | |
8 | g.143916552C>G | CA372475763 | PLEC | c.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) | |
8 | g.143916552C>T | CA463525684 | PLEC | c.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=) | |
8 | g.143916553T>A | CA372475765 | PLEC | c.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 |
8 | g.143916553T>C | CA372475767 | PLEC | c.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 |
8 | g.143916553T>G | CA372475769 | PLEC | c.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) | |
8 | g.143916553T= | CA1826037370 | PLEC | c.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=) | |
8 | g.143916554G>A | CA372475774 | PLEC | c.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) | |
8 | g.143916554G>C | CA372475772 | PLEC | c.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 |
8 | g.143916554G= | CA1826037372 | PLEC | c.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=) | |
8 | g.143916554G>T | CA372475771 | PLEC | c.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) | |
8 | g.143916555T>A | CA463525685 | PLEC | c.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=) | |
8 | g.143916555T>C | CA4923857 | PLEC | c.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 |
8 | g.143916555T>G | CA463525686 | PLEC | c.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 |
8 | g.143916555T= | CA1826037374 | PLEC | c.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=) |