| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143916315_143916327delinsGCGGGAGCCGGCC | CA1826036880 | PLEC | c.13626_13638delinsGGCCGGCTCCCGC (p.Arg4542=) c.13545_13557delinsGGCCGGCTCCCGC (p.Arg4515=) c.13212_13224delinsGGCCGGCTCCCGC (p.Arg4404=) c.13425_13437delinsGGCCGGCTCCCGC (p.Arg4475=) c.13494_13506delinsGGCCGGCTCCCGC (p.Arg4498=) c.10194_10206delinsGGCCGGCTCCCGC (p.Arg3398=) c.13905_13917delinsGGCCGGCTCCCGC (p.Arg4635=) c.13428_13440delinsGGCCGGCTCCCGC (p.Arg4476=) c.13452_13464delinsGGCCGGCTCCCGC (p.Arg4484=) c.13506_13518delinsGGCCGGCTCCCGC (p.Arg4502=) c.13398_13410delinsGGCCGGCTCCCGC (p.Arg4466=) c.13575_13587delinsGGCCGGCTCCCGC (p.Arg4525=) c.13563_13575delinsGGCCGGCTCCCGC (p.Arg4521=) c.13920_13932delinsGGCCGGCTCCCGC (p.Arg4640=) c.13521_13533delinsGGCCGGCTCCCGC (p.Arg4507=) c.13509_13521delinsGGCCGGCTCCCGC (p.Arg4503=) c.13467_13479delinsGGCCGGCTCCCGC (p.Arg4489=) c.13443_13455delinsGGCCGGCTCCCGC (p.Arg4481=) c.13413_13425delinsGGCCGGCTCCCGC (p.Arg4471=) c.13590_13602delinsGGCCGGCTCCCGC (p.Arg4530=) c.13440_13452delinsGGCCGGCTCCCGC (p.Arg4480=) c.10140_10152delinsGGCCGGCTCCCGC (p.Arg3380=) | |
| 8 | g.143916318_143916341dup | CA2689011273 | PLEC | c.13615_13638dup (p.Arg4546_Arg4547insThrGlySerArgAlaGlySerArg) c.13534_13557dup (p.Arg4519_Arg4520insThrGlySerArgAlaGlySerArg) c.13201_13224dup (p.Arg4408_Arg4409insThrGlySerArgAlaGlySerArg) c.13414_13437dup (p.Arg4479_Arg4480insThrGlySerArgAlaGlySerArg) c.13483_13506dup (p.Arg4502_Arg4503insThrGlySerArgAlaGlySerArg) c.10183_10206dup (p.Arg3402_Arg3403insThrGlySerArgAlaGlySerArg) c.13894_13917dup (p.Arg4639_Arg4640insThrGlySerArgAlaGlySerArg) c.13417_13440dup (p.Arg4480_Arg4481insThrGlySerArgAlaGlySerArg) c.13441_13464dup (p.Arg4488_Arg4489insThrGlySerArgAlaGlySerArg) c.13495_13518dup (p.Arg4506_Arg4507insThrGlySerArgAlaGlySerArg) c.13387_13410dup (p.Arg4470_Arg4471insThrGlySerArgAlaGlySerArg) c.13564_13587dup (p.Arg4529_Arg4530insThrGlySerArgAlaGlySerArg) c.13552_13575dup (p.Arg4525_Arg4526insThrGlySerArgAlaGlySerArg) c.13909_13932dup (p.Arg4644_Arg4645insThrGlySerArgAlaGlySerArg) c.13510_13533dup (p.Arg4511_Arg4512insThrGlySerArgAlaGlySerArg) c.13498_13521dup (p.Arg4507_Arg4508insThrGlySerArgAlaGlySerArg) c.13456_13479dup (p.Arg4493_Arg4494insThrGlySerArgAlaGlySerArg) c.13432_13455dup (p.Arg4485_Arg4486insThrGlySerArgAlaGlySerArg) c.13402_13425dup (p.Arg4475_Arg4476insThrGlySerArgAlaGlySerArg) c.13579_13602dup (p.Arg4534_Arg4535insThrGlySerArgAlaGlySerArg) c.13429_13452dup (p.Arg4484_Arg4485insThrGlySerArgAlaGlySerArg) c.10129_10152dup (p.Arg3384_Arg3385insThrGlySerArgAlaGlySerArg) | gnomAD v4 |
| 8 | g.143916324_143916359del | CA2689011274 | PLEC | c.13603_13638del (p.Thr4535_Arg4546del) c.13522_13557del (p.Thr4508_Arg4519del) c.13189_13224del (p.Thr4397_Arg4408del) c.13402_13437del (p.Thr4468_Arg4479del) c.13471_13506del (p.Thr4491_Arg4502del) c.10171_10206del (p.Thr3391_Arg3402del) c.13882_13917del (p.Thr4628_Arg4639del) c.13405_13440del (p.Thr4469_Arg4480del) c.13429_13464del (p.Thr4477_Arg4488del) c.13483_13518del (p.Thr4495_Arg4506del) c.13375_13410del (p.Thr4459_Arg4470del) c.13552_13587del (p.Thr4518_Arg4529del) c.13540_13575del (p.Thr4514_Arg4525del) c.13897_13932del (p.Thr4633_Arg4644del) c.13498_13533del (p.Thr4500_Arg4511del) c.13486_13521del (p.Thr4496_Arg4507del) c.13444_13479del (p.Thr4482_Arg4493del) c.13420_13455del (p.Thr4474_Arg4485del) c.13390_13425del (p.Thr4464_Arg4475del) c.13567_13602del (p.Thr4523_Arg4534del) c.13417_13452del (p.Thr4473_Arg4484del) c.10117_10152del (p.Thr3373_Arg3384del) | gnomAD v4 |
| 8 | g.143916326_143916337dup | CA848819935 | PLEC | c.13626_13637dup (p.Arg4546_Arg4547insAlaGlySerArg) c.13545_13556dup (p.Arg4519_Arg4520insAlaGlySerArg) c.13212_13223dup (p.Arg4408_Arg4409insAlaGlySerArg) c.13425_13436dup (p.Arg4479_Arg4480insAlaGlySerArg) c.13494_13505dup (p.Arg4502_Arg4503insAlaGlySerArg) c.10194_10205dup (p.Arg3402_Arg3403insAlaGlySerArg) c.13905_13916dup (p.Arg4639_Arg4640insAlaGlySerArg) c.13428_13439dup (p.Arg4480_Arg4481insAlaGlySerArg) c.13452_13463dup (p.Arg4488_Arg4489insAlaGlySerArg) c.13506_13517dup (p.Arg4506_Arg4507insAlaGlySerArg) c.13398_13409dup (p.Arg4470_Arg4471insAlaGlySerArg) c.13575_13586dup (p.Arg4529_Arg4530insAlaGlySerArg) c.13563_13574dup (p.Arg4525_Arg4526insAlaGlySerArg) c.13920_13931dup (p.Arg4644_Arg4645insAlaGlySerArg) c.13521_13532dup (p.Arg4511_Arg4512insAlaGlySerArg) c.13509_13520dup (p.Arg4507_Arg4508insAlaGlySerArg) c.13467_13478dup (p.Arg4493_Arg4494insAlaGlySerArg) c.13443_13454dup (p.Arg4485_Arg4486insAlaGlySerArg) c.13413_13424dup (p.Arg4475_Arg4476insAlaGlySerArg) c.13590_13601dup (p.Arg4534_Arg4535insAlaGlySerArg) c.13440_13451dup (p.Arg4484_Arg4485insAlaGlySerArg) c.10140_10151dup (p.Arg3384_Arg3385insAlaGlySerArg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.143916326_143916337del | CA4923774 | PLEC | c.13626_13637del (p.Ala4543_Arg4546del) c.13545_13556del (p.Ala4516_Arg4519del) c.13212_13223del (p.Ala4405_Arg4408del) c.13425_13436del (p.Ala4476_Arg4479del) c.13494_13505del (p.Ala4499_Arg4502del) c.10194_10205del (p.Ala3399_Arg3402del) c.13905_13916del (p.Ala4636_Arg4639del) c.13428_13439del (p.Ala4477_Arg4480del) c.13452_13463del (p.Ala4485_Arg4488del) c.13506_13517del (p.Ala4503_Arg4506del) c.13398_13409del (p.Ala4467_Arg4470del) c.13575_13586del (p.Ala4526_Arg4529del) c.13563_13574del (p.Ala4522_Arg4525del) c.13920_13931del (p.Ala4641_Arg4644del) c.13521_13532del (p.Ala4508_Arg4511del) c.13509_13520del (p.Ala4504_Arg4507del) c.13467_13478del (p.Ala4490_Arg4493del) c.13443_13454del (p.Ala4482_Arg4485del) c.13413_13424del (p.Ala4472_Arg4475del) c.13590_13601del (p.Ala4531_Arg4534del) c.13440_13451del (p.Ala4481_Arg4484del) c.10140_10151del (p.Ala3381_Arg3384del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916321_143916327delinsGCCGGCC | CA1826036897 | PLEC | c.13626_13632delinsGGCCGGC (p.Arg4542=) c.13545_13551delinsGGCCGGC (p.Arg4515=) c.13212_13218delinsGGCCGGC (p.Arg4404=) c.13425_13431delinsGGCCGGC (p.Arg4475=) c.13494_13500delinsGGCCGGC (p.Arg4498=) c.10194_10200delinsGGCCGGC (p.Arg3398=) c.13905_13911delinsGGCCGGC (p.Arg4635=) c.13428_13434delinsGGCCGGC (p.Arg4476=) c.13452_13458delinsGGCCGGC (p.Arg4484=) c.13506_13512delinsGGCCGGC (p.Arg4502=) c.13398_13404delinsGGCCGGC (p.Arg4466=) c.13575_13581delinsGGCCGGC (p.Arg4525=) c.13563_13569delinsGGCCGGC (p.Arg4521=) c.13920_13926delinsGGCCGGC (p.Arg4640=) c.13521_13527delinsGGCCGGC (p.Arg4507=) c.13509_13515delinsGGCCGGC (p.Arg4503=) c.13467_13473delinsGGCCGGC (p.Arg4489=) c.13443_13449delinsGGCCGGC (p.Arg4481=) c.13413_13419delinsGGCCGGC (p.Arg4471=) c.13590_13596delinsGGCCGGC (p.Arg4530=) c.13440_13446delinsGGCCGGC (p.Arg4480=) c.10140_10146delinsGGCCGGC (p.Arg3380=) | |
| 8 | g.143916322C>A | CA372474146 | PLEC | c.13631G>T (p.Gly4544Val) c.13550G>T (p.Gly4517Val) c.13217G>T (p.Gly4406Val) c.13430G>T (p.Gly4477Val) c.13499G>T (p.Gly4500Val) c.10199G>T (p.Gly3400Val) c.13910G>T (p.Gly4637Val) c.13433G>T (p.Gly4478Val) c.13457G>T (p.Gly4486Val) c.13511G>T (p.Gly4504Val) c.13403G>T (p.Gly4468Val) c.13580G>T (p.Gly4527Val) c.13568G>T (p.Gly4523Val) c.13925G>T (p.Gly4642Val) c.13526G>T (p.Gly4509Val) c.13514G>T (p.Gly4505Val) c.13472G>T (p.Gly4491Val) c.13448G>T (p.Gly4483Val) c.13418G>T (p.Gly4473Val) c.13595G>T (p.Gly4532Val) c.13445G>T (p.Gly4482Val) c.10145G>T (p.Gly3382Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916322C= | CA1826036904 | PLEC | c.13631G= (p.Gly4544=) c.13550G= (p.Gly4517=) c.13217G= (p.Gly4406=) c.13430G= (p.Gly4477=) c.13499G= (p.Gly4500=) c.10199G= (p.Gly3400=) c.13910G= (p.Gly4637=) c.13433G= (p.Gly4478=) c.13457G= (p.Gly4486=) c.13511G= (p.Gly4504=) c.13403G= (p.Gly4468=) c.13580G= (p.Gly4527=) c.13568G= (p.Gly4523=) c.13925G= (p.Gly4642=) c.13526G= (p.Gly4509=) c.13514G= (p.Gly4505=) c.13472G= (p.Gly4491=) c.13448G= (p.Gly4483=) c.13418G= (p.Gly4473=) c.13595G= (p.Gly4532=) c.13445G= (p.Gly4482=) c.10145G= (p.Gly3382=) | |
| 8 | g.143916322C>G | CA372474149 | PLEC | c.13631G>C (p.Gly4544Ala) c.13550G>C (p.Gly4517Ala) c.13217G>C (p.Gly4406Ala) c.13430G>C (p.Gly4477Ala) c.13499G>C (p.Gly4500Ala) c.10199G>C (p.Gly3400Ala) c.13910G>C (p.Gly4637Ala) c.13433G>C (p.Gly4478Ala) c.13457G>C (p.Gly4486Ala) c.13511G>C (p.Gly4504Ala) c.13403G>C (p.Gly4468Ala) c.13580G>C (p.Gly4527Ala) c.13568G>C (p.Gly4523Ala) c.13925G>C (p.Gly4642Ala) c.13526G>C (p.Gly4509Ala) c.13514G>C (p.Gly4505Ala) c.13472G>C (p.Gly4491Ala) c.13448G>C (p.Gly4483Ala) c.13418G>C (p.Gly4473Ala) c.13595G>C (p.Gly4532Ala) c.13445G>C (p.Gly4482Ala) c.10145G>C (p.Gly3382Ala) | |
| 8 | g.143916322C>T | CA372474152 | PLEC | c.13631G>A (p.Gly4544Asp) c.13550G>A (p.Gly4517Asp) c.13217G>A (p.Gly4406Asp) c.13430G>A (p.Gly4477Asp) c.13499G>A (p.Gly4500Asp) c.10199G>A (p.Gly3400Asp) c.13910G>A (p.Gly4637Asp) c.13433G>A (p.Gly4478Asp) c.13457G>A (p.Gly4486Asp) c.13511G>A (p.Gly4504Asp) c.13403G>A (p.Gly4468Asp) c.13580G>A (p.Gly4527Asp) c.13568G>A (p.Gly4523Asp) c.13925G>A (p.Gly4642Asp) c.13526G>A (p.Gly4509Asp) c.13514G>A (p.Gly4505Asp) c.13472G>A (p.Gly4491Asp) c.13448G>A (p.Gly4483Asp) c.13418G>A (p.Gly4473Asp) c.13595G>A (p.Gly4532Asp) c.13445G>A (p.Gly4482Asp) c.10145G>A (p.Gly3382Asp) | ClinVar gnomAD v4 |
| 8 | g.143916323_143916328del | CA848819945 | PLEC | c.13626_13631del (p.Ala4543_Gly4544del) c.13545_13550del (p.Ala4516_Gly4517del) c.13212_13217del (p.Ala4405_Gly4406del) c.13425_13430del (p.Ala4476_Gly4477del) c.13494_13499del (p.Ala4499_Gly4500del) c.10194_10199del (p.Ala3399_Gly3400del) c.13905_13910del (p.Ala4636_Gly4637del) c.13428_13433del (p.Ala4477_Gly4478del) c.13452_13457del (p.Ala4485_Gly4486del) c.13506_13511del (p.Ala4503_Gly4504del) c.13398_13403del (p.Ala4467_Gly4468del) c.13575_13580del (p.Ala4526_Gly4527del) c.13563_13568del (p.Ala4522_Gly4523del) c.13920_13925del (p.Ala4641_Gly4642del) c.13521_13526del (p.Ala4508_Gly4509del) c.13509_13514del (p.Ala4504_Gly4505del) c.13467_13472del (p.Ala4490_Gly4491del) c.13443_13448del (p.Ala4482_Gly4483del) c.13413_13418del (p.Ala4472_Gly4473del) c.13590_13595del (p.Ala4531_Gly4532del) c.13440_13445del (p.Ala4481_Gly4482del) c.10140_10145del (p.Ala3381_Gly3382del) | dbSNP |
| 8 | g.143916323C>A | CA372474155 | PLEC | c.13630G>T (p.Gly4544Cys) c.13549G>T (p.Gly4517Cys) c.13216G>T (p.Gly4406Cys) c.13429G>T (p.Gly4477Cys) c.13498G>T (p.Gly4500Cys) c.10198G>T (p.Gly3400Cys) c.13909G>T (p.Gly4637Cys) c.13432G>T (p.Gly4478Cys) c.13456G>T (p.Gly4486Cys) c.13510G>T (p.Gly4504Cys) c.13402G>T (p.Gly4468Cys) c.13579G>T (p.Gly4527Cys) c.13567G>T (p.Gly4523Cys) c.13924G>T (p.Gly4642Cys) c.13525G>T (p.Gly4509Cys) c.13513G>T (p.Gly4505Cys) c.13471G>T (p.Gly4491Cys) c.13447G>T (p.Gly4483Cys) c.13417G>T (p.Gly4473Cys) c.13594G>T (p.Gly4532Cys) c.13444G>T (p.Gly4482Cys) c.10144G>T (p.Gly3382Cys) | |
| 8 | g.143916323C= | CA1826036908 | PLEC | c.13630G= (p.Gly4544=) c.13549G= (p.Gly4517=) c.13216G= (p.Gly4406=) c.13429G= (p.Gly4477=) c.13498G= (p.Gly4500=) c.10198G= (p.Gly3400=) c.13909G= (p.Gly4637=) c.13432G= (p.Gly4478=) c.13456G= (p.Gly4486=) c.13510G= (p.Gly4504=) c.13402G= (p.Gly4468=) c.13579G= (p.Gly4527=) c.13567G= (p.Gly4523=) c.13924G= (p.Gly4642=) c.13525G= (p.Gly4509=) c.13513G= (p.Gly4505=) c.13471G= (p.Gly4491=) c.13447G= (p.Gly4483=) c.13417G= (p.Gly4473=) c.13594G= (p.Gly4532=) c.13444G= (p.Gly4482=) c.10144G= (p.Gly3382=) | |
| 8 | g.143916323C>G | CA372474158 | PLEC | c.13630G>C (p.Gly4544Arg) c.13549G>C (p.Gly4517Arg) c.13216G>C (p.Gly4406Arg) c.13429G>C (p.Gly4477Arg) c.13498G>C (p.Gly4500Arg) c.10198G>C (p.Gly3400Arg) c.13909G>C (p.Gly4637Arg) c.13432G>C (p.Gly4478Arg) c.13456G>C (p.Gly4486Arg) c.13510G>C (p.Gly4504Arg) c.13402G>C (p.Gly4468Arg) c.13579G>C (p.Gly4527Arg) c.13567G>C (p.Gly4523Arg) c.13924G>C (p.Gly4642Arg) c.13525G>C (p.Gly4509Arg) c.13513G>C (p.Gly4505Arg) c.13471G>C (p.Gly4491Arg) c.13447G>C (p.Gly4483Arg) c.13417G>C (p.Gly4473Arg) c.13594G>C (p.Gly4532Arg) c.13444G>C (p.Gly4482Arg) c.10144G>C (p.Gly3382Arg) | |
| 8 | g.143916323C>T | CA4923777 | PLEC | c.13630G>A (p.Gly4544Ser) c.13549G>A (p.Gly4517Ser) c.13216G>A (p.Gly4406Ser) c.13429G>A (p.Gly4477Ser) c.13498G>A (p.Gly4500Ser) c.10198G>A (p.Gly3400Ser) c.13909G>A (p.Gly4637Ser) c.13432G>A (p.Gly4478Ser) c.13456G>A (p.Gly4486Ser) c.13510G>A (p.Gly4504Ser) c.13402G>A (p.Gly4468Ser) c.13579G>A (p.Gly4527Ser) c.13567G>A (p.Gly4523Ser) c.13924G>A (p.Gly4642Ser) c.13525G>A (p.Gly4509Ser) c.13513G>A (p.Gly4505Ser) c.13471G>A (p.Gly4491Ser) c.13447G>A (p.Gly4483Ser) c.13417G>A (p.Gly4473Ser) c.13594G>A (p.Gly4532Ser) c.13444G>A (p.Gly4482Ser) c.10144G>A (p.Gly3382Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916324G>A | CA4923779 | PLEC | c.13629C>T (p.Ala4543=) c.13548C>T (p.Ala4516=) c.13215C>T (p.Ala4405=) c.13428C>T (p.Ala4476=) c.13497C>T (p.Ala4499=) c.10197C>T (p.Ala3399=) c.13908C>T (p.Ala4636=) c.13431C>T (p.Ala4477=) c.13455C>T (p.Ala4485=) c.13509C>T (p.Ala4503=) c.13401C>T (p.Ala4467=) c.13578C>T (p.Ala4526=) c.13566C>T (p.Ala4522=) c.13923C>T (p.Ala4641=) c.13524C>T (p.Ala4508=) c.13512C>T (p.Ala4504=) c.13470C>T (p.Ala4490=) c.13446C>T (p.Ala4482=) c.13416C>T (p.Ala4472=) c.13593C>T (p.Ala4531=) c.13443C>T (p.Ala4481=) c.10143C>T (p.Ala3381=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916324G>C | CA463526125 | PLEC | c.13629C>G (p.Ala4543=) c.13548C>G (p.Ala4516=) c.13215C>G (p.Ala4405=) c.13428C>G (p.Ala4476=) c.13497C>G (p.Ala4499=) c.10197C>G (p.Ala3399=) c.13908C>G (p.Ala4636=) c.13431C>G (p.Ala4477=) c.13455C>G (p.Ala4485=) c.13509C>G (p.Ala4503=) c.13401C>G (p.Ala4467=) c.13578C>G (p.Ala4526=) c.13566C>G (p.Ala4522=) c.13923C>G (p.Ala4641=) c.13524C>G (p.Ala4508=) c.13512C>G (p.Ala4504=) c.13470C>G (p.Ala4490=) c.13446C>G (p.Ala4482=) c.13416C>G (p.Ala4472=) c.13593C>G (p.Ala4531=) c.13443C>G (p.Ala4481=) c.10143C>G (p.Ala3381=) | |
| 8 | g.143916324G= | CA1826036911 | PLEC | c.13629C= (p.Ala4543=) c.13548C= (p.Ala4516=) c.13215C= (p.Ala4405=) c.13428C= (p.Ala4476=) c.13497C= (p.Ala4499=) c.10197C= (p.Ala3399=) c.13908C= (p.Ala4636=) c.13431C= (p.Ala4477=) c.13455C= (p.Ala4485=) c.13509C= (p.Ala4503=) c.13401C= (p.Ala4467=) c.13578C= (p.Ala4526=) c.13566C= (p.Ala4522=) c.13923C= (p.Ala4641=) c.13524C= (p.Ala4508=) c.13512C= (p.Ala4504=) c.13470C= (p.Ala4490=) c.13446C= (p.Ala4482=) c.13416C= (p.Ala4472=) c.13593C= (p.Ala4531=) c.13443C= (p.Ala4481=) c.10143C= (p.Ala3381=) | |
| 8 | g.143916324G>T | CA463526123 | PLEC | c.13629C>A (p.Ala4543=) c.13548C>A (p.Ala4516=) c.13215C>A (p.Ala4405=) c.13428C>A (p.Ala4476=) c.13497C>A (p.Ala4499=) c.10197C>A (p.Ala3399=) c.13908C>A (p.Ala4636=) c.13431C>A (p.Ala4477=) c.13455C>A (p.Ala4485=) c.13509C>A (p.Ala4503=) c.13401C>A (p.Ala4467=) c.13578C>A (p.Ala4526=) c.13566C>A (p.Ala4522=) c.13923C>A (p.Ala4641=) c.13524C>A (p.Ala4508=) c.13512C>A (p.Ala4504=) c.13470C>A (p.Ala4490=) c.13446C>A (p.Ala4482=) c.13416C>A (p.Ala4472=) c.13593C>A (p.Ala4531=) c.13443C>A (p.Ala4481=) c.10143C>A (p.Ala3381=) | gnomAD v4 |
| 8 | g.143916324_143916360delinsGGCCCGGGAGCCGGTGCGCGAGCCGGTGCGGGAGCCA | CA1826036913 | PLEC | c.13593_13629delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4531=) c.13512_13548delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4504=) c.13179_13215delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4393=) c.13392_13428delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4464=) c.13461_13497delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4487=) c.10161_10197delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala3387=) c.13872_13908delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4624=) c.13395_13431delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4465=) c.13419_13455delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4473=) c.13473_13509delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4491=) c.13365_13401delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4455=) c.13542_13578delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4514=) c.13530_13566delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4510=) c.13887_13923delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4629=) c.13488_13524delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4496=) c.13476_13512delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4492=) c.13434_13470delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4478=) c.13410_13446delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4470=) c.13380_13416delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4460=) c.13557_13593delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4519=) c.13407_13443delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala4469=) c.10107_10143delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC (p.Ala3369=) | |
| 8 | g.143916325G>A | CA4923780 | PLEC | c.13628C>T (p.Ala4543Val) c.13547C>T (p.Ala4516Val) c.13214C>T (p.Ala4405Val) c.13427C>T (p.Ala4476Val) c.13496C>T (p.Ala4499Val) c.10196C>T (p.Ala3399Val) c.13907C>T (p.Ala4636Val) c.13430C>T (p.Ala4477Val) c.13454C>T (p.Ala4485Val) c.13508C>T (p.Ala4503Val) c.13400C>T (p.Ala4467Val) c.13577C>T (p.Ala4526Val) c.13565C>T (p.Ala4522Val) c.13922C>T (p.Ala4641Val) c.13523C>T (p.Ala4508Val) c.13511C>T (p.Ala4504Val) c.13469C>T (p.Ala4490Val) c.13445C>T (p.Ala4482Val) c.13415C>T (p.Ala4472Val) c.13592C>T (p.Ala4531Val) c.13442C>T (p.Ala4481Val) c.10142C>T (p.Ala3381Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916325G>C | CA372474166 | PLEC | c.13628C>G (p.Ala4543Gly) c.13547C>G (p.Ala4516Gly) c.13214C>G (p.Ala4405Gly) c.13427C>G (p.Ala4476Gly) c.13496C>G (p.Ala4499Gly) c.10196C>G (p.Ala3399Gly) c.13907C>G (p.Ala4636Gly) c.13430C>G (p.Ala4477Gly) c.13454C>G (p.Ala4485Gly) c.13508C>G (p.Ala4503Gly) c.13400C>G (p.Ala4467Gly) c.13577C>G (p.Ala4526Gly) c.13565C>G (p.Ala4522Gly) c.13922C>G (p.Ala4641Gly) c.13523C>G (p.Ala4508Gly) c.13511C>G (p.Ala4504Gly) c.13469C>G (p.Ala4490Gly) c.13445C>G (p.Ala4482Gly) c.13415C>G (p.Ala4472Gly) c.13592C>G (p.Ala4531Gly) c.13442C>G (p.Ala4481Gly) c.10142C>G (p.Ala3381Gly) | gnomAD v4 |
| 8 | g.143916325G= | CA1826036915 | PLEC | c.13628C= (p.Ala4543=) c.13547C= (p.Ala4516=) c.13214C= (p.Ala4405=) c.13427C= (p.Ala4476=) c.13496C= (p.Ala4499=) c.10196C= (p.Ala3399=) c.13907C= (p.Ala4636=) c.13430C= (p.Ala4477=) c.13454C= (p.Ala4485=) c.13508C= (p.Ala4503=) c.13400C= (p.Ala4467=) c.13577C= (p.Ala4526=) c.13565C= (p.Ala4522=) c.13922C= (p.Ala4641=) c.13523C= (p.Ala4508=) c.13511C= (p.Ala4504=) c.13469C= (p.Ala4490=) c.13445C= (p.Ala4482=) c.13415C= (p.Ala4472=) c.13592C= (p.Ala4531=) c.13442C= (p.Ala4481=) c.10142C= (p.Ala3381=) | |
| 8 | g.143916325G>T | CA372474168 | PLEC | c.13628C>A (p.Ala4543Asp) c.13547C>A (p.Ala4516Asp) c.13214C>A (p.Ala4405Asp) c.13427C>A (p.Ala4476Asp) c.13496C>A (p.Ala4499Asp) c.10196C>A (p.Ala3399Asp) c.13907C>A (p.Ala4636Asp) c.13430C>A (p.Ala4477Asp) c.13454C>A (p.Ala4485Asp) c.13508C>A (p.Ala4503Asp) c.13400C>A (p.Ala4467Asp) c.13577C>A (p.Ala4526Asp) c.13565C>A (p.Ala4522Asp) c.13922C>A (p.Ala4641Asp) c.13523C>A (p.Ala4508Asp) c.13511C>A (p.Ala4504Asp) c.13469C>A (p.Ala4490Asp) c.13445C>A (p.Ala4482Asp) c.13415C>A (p.Ala4472Asp) c.13592C>A (p.Ala4531Asp) c.13442C>A (p.Ala4481Asp) c.10142C>A (p.Ala3381Asp) | |
| 8 | g.143916327_143916362del | CA4923778 | PLEC | c.13593_13628del (p.Gly4532_Ala4543del) c.13512_13547del (p.Gly4505_Ala4516del) c.13179_13214del (p.Gly4394_Ala4405del) c.13392_13427del (p.Gly4465_Ala4476del) c.13461_13496del (p.Gly4488_Ala4499del) c.10161_10196del (p.Gly3388_Ala3399del) c.13872_13907del (p.Gly4625_Ala4636del) c.13395_13430del (p.Gly4466_Ala4477del) c.13419_13454del (p.Gly4474_Ala4485del) c.13473_13508del (p.Gly4492_Ala4503del) c.13365_13400del (p.Gly4456_Ala4467del) c.13542_13577del (p.Gly4515_Ala4526del) c.13530_13565del (p.Gly4511_Ala4522del) c.13887_13922del (p.Gly4630_Ala4641del) c.13488_13523del (p.Gly4497_Ala4508del) c.13476_13511del (p.Gly4493_Ala4504del) c.13434_13469del (p.Gly4479_Ala4490del) c.13410_13445del (p.Gly4471_Ala4482del) c.13380_13415del (p.Gly4461_Ala4472del) c.13557_13592del (p.Gly4520_Ala4531del) c.13407_13442del (p.Gly4470_Ala4481del) c.10107_10142del (p.Gly3370_Ala3381del) | dbSNP ExAC gnomAD v4 |
| 8 | g.143916326C>A | CA187606024 | PLEC | c.13627G>T (p.Ala4543Ser) c.13546G>T (p.Ala4516Ser) c.13213G>T (p.Ala4405Ser) c.13426G>T (p.Ala4476Ser) c.13495G>T (p.Ala4499Ser) c.10195G>T (p.Ala3399Ser) c.13906G>T (p.Ala4636Ser) c.13429G>T (p.Ala4477Ser) c.13453G>T (p.Ala4485Ser) c.13507G>T (p.Ala4503Ser) c.13399G>T (p.Ala4467Ser) c.13576G>T (p.Ala4526Ser) c.13564G>T (p.Ala4522Ser) c.13921G>T (p.Ala4641Ser) c.13522G>T (p.Ala4508Ser) c.13510G>T (p.Ala4504Ser) c.13468G>T (p.Ala4490Ser) c.13444G>T (p.Ala4482Ser) c.13414G>T (p.Ala4472Ser) c.13591G>T (p.Ala4531Ser) c.13441G>T (p.Ala4481Ser) c.10141G>T (p.Ala3381Ser) | dbSNP |
| 8 | g.143916326C= | CA1826036916 | PLEC | c.13627G= (p.Ala4543=) c.13546G= (p.Ala4516=) c.13213G= (p.Ala4405=) c.13426G= (p.Ala4476=) c.13495G= (p.Ala4499=) c.10195G= (p.Ala3399=) c.13906G= (p.Ala4636=) c.13429G= (p.Ala4477=) c.13453G= (p.Ala4485=) c.13507G= (p.Ala4503=) c.13399G= (p.Ala4467=) c.13576G= (p.Ala4526=) c.13564G= (p.Ala4522=) c.13921G= (p.Ala4641=) c.13522G= (p.Ala4508=) c.13510G= (p.Ala4504=) c.13468G= (p.Ala4490=) c.13444G= (p.Ala4482=) c.13414G= (p.Ala4472=) c.13591G= (p.Ala4531=) c.13441G= (p.Ala4481=) c.10141G= (p.Ala3381=) | |
| 8 | g.143916326C>G | CA372474174 | PLEC | c.13627G>C (p.Ala4543Pro) c.13546G>C (p.Ala4516Pro) c.13213G>C (p.Ala4405Pro) c.13426G>C (p.Ala4476Pro) c.13495G>C (p.Ala4499Pro) c.10195G>C (p.Ala3399Pro) c.13906G>C (p.Ala4636Pro) c.13429G>C (p.Ala4477Pro) c.13453G>C (p.Ala4485Pro) c.13507G>C (p.Ala4503Pro) c.13399G>C (p.Ala4467Pro) c.13576G>C (p.Ala4526Pro) c.13564G>C (p.Ala4522Pro) c.13921G>C (p.Ala4641Pro) c.13522G>C (p.Ala4508Pro) c.13510G>C (p.Ala4504Pro) c.13468G>C (p.Ala4490Pro) c.13444G>C (p.Ala4482Pro) c.13414G>C (p.Ala4472Pro) c.13591G>C (p.Ala4531Pro) c.13441G>C (p.Ala4481Pro) c.10141G>C (p.Ala3381Pro) | |
| 8 | g.143916326C>T | CA372474176 | PLEC | c.13627G>A (p.Ala4543Thr) c.13546G>A (p.Ala4516Thr) c.13213G>A (p.Ala4405Thr) c.13426G>A (p.Ala4476Thr) c.13495G>A (p.Ala4499Thr) c.10195G>A (p.Ala3399Thr) c.13906G>A (p.Ala4636Thr) c.13429G>A (p.Ala4477Thr) c.13453G>A (p.Ala4485Thr) c.13507G>A (p.Ala4503Thr) c.13399G>A (p.Ala4467Thr) c.13576G>A (p.Ala4526Thr) c.13564G>A (p.Ala4522Thr) c.13921G>A (p.Ala4641Thr) c.13522G>A (p.Ala4508Thr) c.13510G>A (p.Ala4504Thr) c.13468G>A (p.Ala4490Thr) c.13444G>A (p.Ala4482Thr) c.13414G>A (p.Ala4472Thr) c.13591G>A (p.Ala4531Thr) c.13441G>A (p.Ala4481Thr) c.10141G>A (p.Ala3381Thr) | |
| 8 | g.143916327C>A | CA463526131 | PLEC | c.13626G>T (p.Arg4542=) c.13545G>T (p.Arg4515=) c.13212G>T (p.Arg4404=) c.13425G>T (p.Arg4475=) c.13494G>T (p.Arg4498=) c.10194G>T (p.Arg3398=) c.13905G>T (p.Arg4635=) c.13428G>T (p.Arg4476=) c.13452G>T (p.Arg4484=) c.13506G>T (p.Arg4502=) c.13398G>T (p.Arg4466=) c.13575G>T (p.Arg4525=) c.13563G>T (p.Arg4521=) c.13920G>T (p.Arg4640=) c.13521G>T (p.Arg4507=) c.13509G>T (p.Arg4503=) c.13467G>T (p.Arg4489=) c.13443G>T (p.Arg4481=) c.13413G>T (p.Arg4471=) c.13590G>T (p.Arg4530=) c.13440G>T (p.Arg4480=) c.10140G>T (p.Arg3380=) | |
| 8 | g.143916327C= | CA1826036918 | PLEC | c.13626G= (p.Arg4542=) c.13545G= (p.Arg4515=) c.13212G= (p.Arg4404=) c.13425G= (p.Arg4475=) c.13494G= (p.Arg4498=) c.10194G= (p.Arg3398=) c.13905G= (p.Arg4635=) c.13428G= (p.Arg4476=) c.13452G= (p.Arg4484=) c.13506G= (p.Arg4502=) c.13398G= (p.Arg4466=) c.13575G= (p.Arg4525=) c.13563G= (p.Arg4521=) c.13920G= (p.Arg4640=) c.13521G= (p.Arg4507=) c.13509G= (p.Arg4503=) c.13467G= (p.Arg4489=) c.13443G= (p.Arg4481=) c.13413G= (p.Arg4471=) c.13590G= (p.Arg4530=) c.13440G= (p.Arg4480=) c.10140G= (p.Arg3380=) | |
| 8 | g.143916327C>G | CA463526132 | PLEC | c.13626G>C (p.Arg4542=) c.13545G>C (p.Arg4515=) c.13212G>C (p.Arg4404=) c.13425G>C (p.Arg4475=) c.13494G>C (p.Arg4498=) c.10194G>C (p.Arg3398=) c.13905G>C (p.Arg4635=) c.13428G>C (p.Arg4476=) c.13452G>C (p.Arg4484=) c.13506G>C (p.Arg4502=) c.13398G>C (p.Arg4466=) c.13575G>C (p.Arg4525=) c.13563G>C (p.Arg4521=) c.13920G>C (p.Arg4640=) c.13521G>C (p.Arg4507=) c.13509G>C (p.Arg4503=) c.13467G>C (p.Arg4489=) c.13443G>C (p.Arg4481=) c.13413G>C (p.Arg4471=) c.13590G>C (p.Arg4530=) c.13440G>C (p.Arg4480=) c.10140G>C (p.Arg3380=) | gnomAD v4 |
| 8 | g.143916327C>T | CA463526134 | PLEC | c.13626G>A (p.Arg4542=) c.13545G>A (p.Arg4515=) c.13212G>A (p.Arg4404=) c.13425G>A (p.Arg4475=) c.13494G>A (p.Arg4498=) c.10194G>A (p.Arg3398=) c.13905G>A (p.Arg4635=) c.13428G>A (p.Arg4476=) c.13452G>A (p.Arg4484=) c.13506G>A (p.Arg4502=) c.13398G>A (p.Arg4466=) c.13575G>A (p.Arg4525=) c.13563G>A (p.Arg4521=) c.13920G>A (p.Arg4640=) c.13521G>A (p.Arg4507=) c.13509G>A (p.Arg4503=) c.13467G>A (p.Arg4489=) c.13443G>A (p.Arg4481=) c.13413G>A (p.Arg4471=) c.13590G>A (p.Arg4530=) c.13440G>A (p.Arg4480=) c.10140G>A (p.Arg3380=) | |
| 8 | g.143916327_143916351delinsCCGGGAGCCGGTGCGCGAGCCGGTG | CA1826036919 | PLEC | c.13602_13626delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4534=) c.13521_13545delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4507=) c.13188_13212delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4396=) c.13401_13425delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4467=) c.13470_13494delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4490=) c.10170_10194delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg3390=) c.13881_13905delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4627=) c.13404_13428delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4468=) c.13428_13452delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4476=) c.13482_13506delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4494=) c.13374_13398delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4458=) c.13551_13575delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4517=) c.13539_13563delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4513=) c.13896_13920delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4632=) c.13497_13521delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4499=) c.13485_13509delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4495=) c.13443_13467delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4481=) c.13419_13443delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4473=) c.13389_13413delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4463=) c.13566_13590delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4522=) c.13416_13440delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg4472=) c.10116_10140delinsCACCGGCTCGCGCACCGGCTCCCGG (p.Arg3372=) | |
| 8 | g.143916328C>A | CA372474179 | PLEC | c.13625G>T (p.Arg4542Leu) c.13544G>T (p.Arg4515Leu) c.13211G>T (p.Arg4404Leu) c.13424G>T (p.Arg4475Leu) c.13493G>T (p.Arg4498Leu) c.10193G>T (p.Arg3398Leu) c.13904G>T (p.Arg4635Leu) c.13427G>T (p.Arg4476Leu) c.13451G>T (p.Arg4484Leu) c.13505G>T (p.Arg4502Leu) c.13397G>T (p.Arg4466Leu) c.13574G>T (p.Arg4525Leu) c.13562G>T (p.Arg4521Leu) c.13919G>T (p.Arg4640Leu) c.13520G>T (p.Arg4507Leu) c.13508G>T (p.Arg4503Leu) c.13466G>T (p.Arg4489Leu) c.13442G>T (p.Arg4481Leu) c.13412G>T (p.Arg4471Leu) c.13589G>T (p.Arg4530Leu) c.13439G>T (p.Arg4480Leu) c.10139G>T (p.Arg3380Leu) | gnomAD v4 |
| 8 | g.143916328C= | CA1826036925 | PLEC | c.13625G= (p.Arg4542=) c.13544G= (p.Arg4515=) c.13211G= (p.Arg4404=) c.13424G= (p.Arg4475=) c.13493G= (p.Arg4498=) c.10193G= (p.Arg3398=) c.13904G= (p.Arg4635=) c.13427G= (p.Arg4476=) c.13451G= (p.Arg4484=) c.13505G= (p.Arg4502=) c.13397G= (p.Arg4466=) c.13574G= (p.Arg4525=) c.13562G= (p.Arg4521=) c.13919G= (p.Arg4640=) c.13520G= (p.Arg4507=) c.13508G= (p.Arg4503=) c.13466G= (p.Arg4489=) c.13442G= (p.Arg4481=) c.13412G= (p.Arg4471=) c.13589G= (p.Arg4530=) c.13439G= (p.Arg4480=) c.10139G= (p.Arg3380=) | |
| 8 | g.143916328C>G | CA372474181 | PLEC | c.13625G>C (p.Arg4542Pro) c.13544G>C (p.Arg4515Pro) c.13211G>C (p.Arg4404Pro) c.13424G>C (p.Arg4475Pro) c.13493G>C (p.Arg4498Pro) c.10193G>C (p.Arg3398Pro) c.13904G>C (p.Arg4635Pro) c.13427G>C (p.Arg4476Pro) c.13451G>C (p.Arg4484Pro) c.13505G>C (p.Arg4502Pro) c.13397G>C (p.Arg4466Pro) c.13574G>C (p.Arg4525Pro) c.13562G>C (p.Arg4521Pro) c.13919G>C (p.Arg4640Pro) c.13520G>C (p.Arg4507Pro) c.13508G>C (p.Arg4503Pro) c.13466G>C (p.Arg4489Pro) c.13442G>C (p.Arg4481Pro) c.13412G>C (p.Arg4471Pro) c.13589G>C (p.Arg4530Pro) c.13439G>C (p.Arg4480Pro) c.10139G>C (p.Arg3380Pro) | dbSNP |
| 8 | g.143916328C>T | CA4923781 | PLEC | c.13625G>A (p.Arg4542Gln) c.13544G>A (p.Arg4515Gln) c.13211G>A (p.Arg4404Gln) c.13424G>A (p.Arg4475Gln) c.13493G>A (p.Arg4498Gln) c.10193G>A (p.Arg3398Gln) c.13904G>A (p.Arg4635Gln) c.13427G>A (p.Arg4476Gln) c.13451G>A (p.Arg4484Gln) c.13505G>A (p.Arg4502Gln) c.13397G>A (p.Arg4466Gln) c.13574G>A (p.Arg4525Gln) c.13562G>A (p.Arg4521Gln) c.13919G>A (p.Arg4640Gln) c.13520G>A (p.Arg4507Gln) c.13508G>A (p.Arg4503Gln) c.13466G>A (p.Arg4489Gln) c.13442G>A (p.Arg4481Gln) c.13412G>A (p.Arg4471Gln) c.13589G>A (p.Arg4530Gln) c.13439G>A (p.Arg4480Gln) c.10139G>A (p.Arg3380Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916330_143916341dup | CA1826036923 | PLEC | c.13614_13625dup (p.Arg4542_Ala4543insThrGlySerArg) c.13533_13544dup (p.Arg4515_Ala4516insThrGlySerArg) c.13200_13211dup (p.Arg4404_Ala4405insThrGlySerArg) c.13413_13424dup (p.Arg4475_Ala4476insThrGlySerArg) c.13482_13493dup (p.Arg4498_Ala4499insThrGlySerArg) c.10182_10193dup (p.Arg3398_Ala3399insThrGlySerArg) c.13893_13904dup (p.Arg4635_Ala4636insThrGlySerArg) c.13416_13427dup (p.Arg4476_Ala4477insThrGlySerArg) c.13440_13451dup (p.Arg4484_Ala4485insThrGlySerArg) c.13494_13505dup (p.Arg4502_Ala4503insThrGlySerArg) c.13386_13397dup (p.Arg4466_Ala4467insThrGlySerArg) c.13563_13574dup (p.Arg4525_Ala4526insThrGlySerArg) c.13551_13562dup (p.Arg4521_Ala4522insThrGlySerArg) c.13908_13919dup (p.Arg4640_Ala4641insThrGlySerArg) c.13509_13520dup (p.Arg4507_Ala4508insThrGlySerArg) c.13497_13508dup (p.Arg4503_Ala4504insThrGlySerArg) c.13455_13466dup (p.Arg4489_Ala4490insThrGlySerArg) c.13431_13442dup (p.Arg4481_Ala4482insThrGlySerArg) c.13401_13412dup (p.Arg4471_Ala4472insThrGlySerArg) c.13578_13589dup (p.Arg4530_Ala4531insThrGlySerArg) c.13428_13439dup (p.Arg4480_Ala4481insThrGlySerArg) c.10128_10139dup (p.Arg3380_Ala3381insThrGlySerArg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.143916330_143916341del | CA2579275383 | PLEC | c.13614_13625del (p.Thr4539_Arg4542del) c.13533_13544del (p.Thr4512_Arg4515del) c.13200_13211del (p.Thr4401_Arg4404del) c.13413_13424del (p.Thr4472_Arg4475del) c.13482_13493del (p.Thr4495_Arg4498del) c.10182_10193del (p.Thr3395_Arg3398del) c.13893_13904del (p.Thr4632_Arg4635del) c.13416_13427del (p.Thr4473_Arg4476del) c.13440_13451del (p.Thr4481_Arg4484del) c.13494_13505del (p.Thr4499_Arg4502del) c.13386_13397del (p.Thr4463_Arg4466del) c.13563_13574del (p.Thr4522_Arg4525del) c.13551_13562del (p.Thr4518_Arg4521del) c.13908_13919del (p.Thr4637_Arg4640del) c.13509_13520del (p.Thr4504_Arg4507del) c.13497_13508del (p.Thr4500_Arg4503del) c.13455_13466del (p.Thr4486_Arg4489del) c.13431_13442del (p.Thr4478_Arg4481del) c.13401_13412del (p.Thr4468_Arg4471del) c.13578_13589del (p.Thr4527_Arg4530del) c.13428_13439del (p.Thr4477_Arg4480del) c.10128_10139del (p.Thr3377_Arg3380del) | |
| 8 | g.143916336_143916359dup | CA2689011276 | PLEC | c.13602_13625dup (p.Arg4542_Ala4543insThrGlySerArgThrGlySerArg) c.13521_13544dup (p.Arg4515_Ala4516insThrGlySerArgThrGlySerArg) c.13188_13211dup (p.Arg4404_Ala4405insThrGlySerArgThrGlySerArg) c.13401_13424dup (p.Arg4475_Ala4476insThrGlySerArgThrGlySerArg) c.13470_13493dup (p.Arg4498_Ala4499insThrGlySerArgThrGlySerArg) c.10170_10193dup (p.Arg3398_Ala3399insThrGlySerArgThrGlySerArg) c.13881_13904dup (p.Arg4635_Ala4636insThrGlySerArgThrGlySerArg) c.13404_13427dup (p.Arg4476_Ala4477insThrGlySerArgThrGlySerArg) c.13428_13451dup (p.Arg4484_Ala4485insThrGlySerArgThrGlySerArg) c.13482_13505dup (p.Arg4502_Ala4503insThrGlySerArgThrGlySerArg) c.13374_13397dup (p.Arg4466_Ala4467insThrGlySerArgThrGlySerArg) c.13551_13574dup (p.Arg4525_Ala4526insThrGlySerArgThrGlySerArg) c.13539_13562dup (p.Arg4521_Ala4522insThrGlySerArgThrGlySerArg) c.13896_13919dup (p.Arg4640_Ala4641insThrGlySerArgThrGlySerArg) c.13497_13520dup (p.Arg4507_Ala4508insThrGlySerArgThrGlySerArg) c.13485_13508dup (p.Arg4503_Ala4504insThrGlySerArgThrGlySerArg) c.13443_13466dup (p.Arg4489_Ala4490insThrGlySerArgThrGlySerArg) c.13419_13442dup (p.Arg4481_Ala4482insThrGlySerArgThrGlySerArg) c.13389_13412dup (p.Arg4471_Ala4472insThrGlySerArgThrGlySerArg) c.13566_13589dup (p.Arg4530_Ala4531insThrGlySerArgThrGlySerArg) c.13416_13439dup (p.Arg4480_Ala4481insThrGlySerArgThrGlySerArg) c.10116_10139dup (p.Arg3380_Ala3381insThrGlySerArgThrGlySerArg) | gnomAD v4 |
| 8 | g.143916336_143916359del | CA1826036924 | PLEC | c.13602_13625del (p.Thr4535_Arg4542del) c.13521_13544del (p.Thr4508_Arg4515del) c.13188_13211del (p.Thr4397_Arg4404del) c.13401_13424del (p.Thr4468_Arg4475del) c.13470_13493del (p.Thr4491_Arg4498del) c.10170_10193del (p.Thr3391_Arg3398del) c.13881_13904del (p.Thr4628_Arg4635del) c.13404_13427del (p.Thr4469_Arg4476del) c.13428_13451del (p.Thr4477_Arg4484del) c.13482_13505del (p.Thr4495_Arg4502del) c.13374_13397del (p.Thr4459_Arg4466del) c.13551_13574del (p.Thr4518_Arg4525del) c.13539_13562del (p.Thr4514_Arg4521del) c.13896_13919del (p.Thr4633_Arg4640del) c.13497_13520del (p.Thr4500_Arg4507del) c.13485_13508del (p.Thr4496_Arg4503del) c.13443_13466del (p.Thr4482_Arg4489del) c.13419_13442del (p.Thr4474_Arg4481del) c.13389_13412del (p.Thr4464_Arg4471del) c.13566_13589del (p.Thr4523_Arg4530del) c.13416_13439del (p.Thr4473_Arg4480del) c.10116_10139del (p.Thr3373_Arg3380del) | dbSNP gnomAD v4 |
| 8 | g.143916329G>A | CA372474183 | PLEC | c.13624C>T (p.Arg4542Trp) c.13543C>T (p.Arg4515Trp) c.13210C>T (p.Arg4404Trp) c.13423C>T (p.Arg4475Trp) c.13492C>T (p.Arg4498Trp) c.10192C>T (p.Arg3398Trp) c.13903C>T (p.Arg4635Trp) c.13426C>T (p.Arg4476Trp) c.13450C>T (p.Arg4484Trp) c.13504C>T (p.Arg4502Trp) c.13396C>T (p.Arg4466Trp) c.13573C>T (p.Arg4525Trp) c.13561C>T (p.Arg4521Trp) c.13918C>T (p.Arg4640Trp) c.13519C>T (p.Arg4507Trp) c.13507C>T (p.Arg4503Trp) c.13465C>T (p.Arg4489Trp) c.13441C>T (p.Arg4481Trp) c.13411C>T (p.Arg4471Trp) c.13588C>T (p.Arg4530Trp) c.13438C>T (p.Arg4480Trp) c.10138C>T (p.Arg3380Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916329G>C | CA372474186 | PLEC | c.13624C>G (p.Arg4542Gly) c.13543C>G (p.Arg4515Gly) c.13210C>G (p.Arg4404Gly) c.13423C>G (p.Arg4475Gly) c.13492C>G (p.Arg4498Gly) c.10192C>G (p.Arg3398Gly) c.13903C>G (p.Arg4635Gly) c.13426C>G (p.Arg4476Gly) c.13450C>G (p.Arg4484Gly) c.13504C>G (p.Arg4502Gly) c.13396C>G (p.Arg4466Gly) c.13573C>G (p.Arg4525Gly) c.13561C>G (p.Arg4521Gly) c.13918C>G (p.Arg4640Gly) c.13519C>G (p.Arg4507Gly) c.13507C>G (p.Arg4503Gly) c.13465C>G (p.Arg4489Gly) c.13441C>G (p.Arg4481Gly) c.13411C>G (p.Arg4471Gly) c.13588C>G (p.Arg4530Gly) c.13438C>G (p.Arg4480Gly) c.10138C>G (p.Arg3380Gly) | |
| 8 | g.143916329G= | CA1826036929 | PLEC | c.13624C= (p.Arg4542=) c.13543C= (p.Arg4515=) c.13210C= (p.Arg4404=) c.13423C= (p.Arg4475=) c.13492C= (p.Arg4498=) c.10192C= (p.Arg3398=) c.13903C= (p.Arg4635=) c.13426C= (p.Arg4476=) c.13450C= (p.Arg4484=) c.13504C= (p.Arg4502=) c.13396C= (p.Arg4466=) c.13573C= (p.Arg4525=) c.13561C= (p.Arg4521=) c.13918C= (p.Arg4640=) c.13519C= (p.Arg4507=) c.13507C= (p.Arg4503=) c.13465C= (p.Arg4489=) c.13441C= (p.Arg4481=) c.13411C= (p.Arg4471=) c.13588C= (p.Arg4530=) c.13438C= (p.Arg4480=) c.10138C= (p.Arg3380=) | |
| 8 | g.143916329G>T | CA463526137 | PLEC | c.13624C>A (p.Arg4542=) c.13543C>A (p.Arg4515=) c.13210C>A (p.Arg4404=) c.13423C>A (p.Arg4475=) c.13492C>A (p.Arg4498=) c.10192C>A (p.Arg3398=) c.13903C>A (p.Arg4635=) c.13426C>A (p.Arg4476=) c.13450C>A (p.Arg4484=) c.13504C>A (p.Arg4502=) c.13396C>A (p.Arg4466=) c.13573C>A (p.Arg4525=) c.13561C>A (p.Arg4521=) c.13918C>A (p.Arg4640=) c.13519C>A (p.Arg4507=) c.13507C>A (p.Arg4503=) c.13465C>A (p.Arg4489=) c.13441C>A (p.Arg4481=) c.13411C>A (p.Arg4471=) c.13588C>A (p.Arg4530=) c.13438C>A (p.Arg4480=) c.10138C>A (p.Arg3380=) | |
| 8 | g.143916330G>A | CA463526139 | PLEC | c.13623C>T (p.Ser4541=) c.13542C>T (p.Ser4514=) c.13209C>T (p.Ser4403=) c.13422C>T (p.Ser4474=) c.13491C>T (p.Ser4497=) c.10191C>T (p.Ser3397=) c.13902C>T (p.Ser4634=) c.13425C>T (p.Ser4475=) c.13449C>T (p.Ser4483=) c.13503C>T (p.Ser4501=) c.13395C>T (p.Ser4465=) c.13572C>T (p.Ser4524=) c.13560C>T (p.Ser4520=) c.13917C>T (p.Ser4639=) c.13518C>T (p.Ser4506=) c.13506C>T (p.Ser4502=) c.13464C>T (p.Ser4488=) c.13440C>T (p.Ser4480=) c.13410C>T (p.Ser4470=) c.13587C>T (p.Ser4529=) c.13437C>T (p.Ser4479=) c.10137C>T (p.Ser3379=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916330G>C | CA463526141 | PLEC | c.13623C>G (p.Ser4541=) c.13542C>G (p.Ser4514=) c.13209C>G (p.Ser4403=) c.13422C>G (p.Ser4474=) c.13491C>G (p.Ser4497=) c.10191C>G (p.Ser3397=) c.13902C>G (p.Ser4634=) c.13425C>G (p.Ser4475=) c.13449C>G (p.Ser4483=) c.13503C>G (p.Ser4501=) c.13395C>G (p.Ser4465=) c.13572C>G (p.Ser4524=) c.13560C>G (p.Ser4520=) c.13917C>G (p.Ser4639=) c.13518C>G (p.Ser4506=) c.13506C>G (p.Ser4502=) c.13464C>G (p.Ser4488=) c.13440C>G (p.Ser4480=) c.13410C>G (p.Ser4470=) c.13587C>G (p.Ser4529=) c.13437C>G (p.Ser4479=) c.10137C>G (p.Ser3379=) | |
| 8 | g.143916330G= | CA1826036932 | PLEC | c.13623C= (p.Ser4541=) c.13542C= (p.Ser4514=) c.13209C= (p.Ser4403=) c.13422C= (p.Ser4474=) c.13491C= (p.Ser4497=) c.10191C= (p.Ser3397=) c.13902C= (p.Ser4634=) c.13425C= (p.Ser4475=) c.13449C= (p.Ser4483=) c.13503C= (p.Ser4501=) c.13395C= (p.Ser4465=) c.13572C= (p.Ser4524=) c.13560C= (p.Ser4520=) c.13917C= (p.Ser4639=) c.13518C= (p.Ser4506=) c.13506C= (p.Ser4502=) c.13464C= (p.Ser4488=) c.13440C= (p.Ser4480=) c.13410C= (p.Ser4470=) c.13587C= (p.Ser4529=) c.13437C= (p.Ser4479=) c.10137C= (p.Ser3379=) | |
| 8 | g.143916330G>T | CA463526142 | PLEC | c.13623C>A (p.Ser4541=) c.13542C>A (p.Ser4514=) c.13209C>A (p.Ser4403=) c.13422C>A (p.Ser4474=) c.13491C>A (p.Ser4497=) c.10191C>A (p.Ser3397=) c.13902C>A (p.Ser4634=) c.13425C>A (p.Ser4475=) c.13449C>A (p.Ser4483=) c.13503C>A (p.Ser4501=) c.13395C>A (p.Ser4465=) c.13572C>A (p.Ser4524=) c.13560C>A (p.Ser4520=) c.13917C>A (p.Ser4639=) c.13518C>A (p.Ser4506=) c.13506C>A (p.Ser4502=) c.13464C>A (p.Ser4488=) c.13440C>A (p.Ser4480=) c.13410C>A (p.Ser4470=) c.13587C>A (p.Ser4529=) c.13437C>A (p.Ser4479=) c.10137C>A (p.Ser3379=) | |
| 8 | g.143916330_143916342delinsGGAGCCGGTGCGC | CA1826036931 | PLEC | c.13611_13623delinsGCGCACCGGCTCC (p.Ser4537=) c.13530_13542delinsGCGCACCGGCTCC (p.Ser4510=) c.13197_13209delinsGCGCACCGGCTCC (p.Ser4399=) c.13410_13422delinsGCGCACCGGCTCC (p.Ser4470=) c.13479_13491delinsGCGCACCGGCTCC (p.Ser4493=) c.10179_10191delinsGCGCACCGGCTCC (p.Ser3393=) c.13890_13902delinsGCGCACCGGCTCC (p.Ser4630=) c.13413_13425delinsGCGCACCGGCTCC (p.Ser4471=) c.13437_13449delinsGCGCACCGGCTCC (p.Ser4479=) c.13491_13503delinsGCGCACCGGCTCC (p.Ser4497=) c.13383_13395delinsGCGCACCGGCTCC (p.Ser4461=) c.13560_13572delinsGCGCACCGGCTCC (p.Ser4520=) c.13548_13560delinsGCGCACCGGCTCC (p.Ser4516=) c.13905_13917delinsGCGCACCGGCTCC (p.Ser4635=) c.13506_13518delinsGCGCACCGGCTCC (p.Ser4502=) c.13494_13506delinsGCGCACCGGCTCC (p.Ser4498=) c.13452_13464delinsGCGCACCGGCTCC (p.Ser4484=) c.13428_13440delinsGCGCACCGGCTCC (p.Ser4476=) c.13398_13410delinsGCGCACCGGCTCC (p.Ser4466=) c.13575_13587delinsGCGCACCGGCTCC (p.Ser4525=) c.13425_13437delinsGCGCACCGGCTCC (p.Ser4475=) c.10125_10137delinsGCGCACCGGCTCC (p.Ser3375=) | |
| 8 | g.143916331G>A | CA372474190 | PLEC | c.13622C>T (p.Ser4541Phe) c.13541C>T (p.Ser4514Phe) c.13208C>T (p.Ser4403Phe) c.13421C>T (p.Ser4474Phe) c.13490C>T (p.Ser4497Phe) c.10190C>T (p.Ser3397Phe) c.13901C>T (p.Ser4634Phe) c.13424C>T (p.Ser4475Phe) c.13448C>T (p.Ser4483Phe) c.13502C>T (p.Ser4501Phe) c.13394C>T (p.Ser4465Phe) c.13571C>T (p.Ser4524Phe) c.13559C>T (p.Ser4520Phe) c.13916C>T (p.Ser4639Phe) c.13517C>T (p.Ser4506Phe) c.13505C>T (p.Ser4502Phe) c.13463C>T (p.Ser4488Phe) c.13439C>T (p.Ser4480Phe) c.13409C>T (p.Ser4470Phe) c.13586C>T (p.Ser4529Phe) c.13436C>T (p.Ser4479Phe) c.10136C>T (p.Ser3379Phe) | |
| 8 | g.143916331G>C | CA372474195 | PLEC | c.13622C>G (p.Ser4541Cys) c.13541C>G (p.Ser4514Cys) c.13208C>G (p.Ser4403Cys) c.13421C>G (p.Ser4474Cys) c.13490C>G (p.Ser4497Cys) c.10190C>G (p.Ser3397Cys) c.13901C>G (p.Ser4634Cys) c.13424C>G (p.Ser4475Cys) c.13448C>G (p.Ser4483Cys) c.13502C>G (p.Ser4501Cys) c.13394C>G (p.Ser4465Cys) c.13571C>G (p.Ser4524Cys) c.13559C>G (p.Ser4520Cys) c.13916C>G (p.Ser4639Cys) c.13517C>G (p.Ser4506Cys) c.13505C>G (p.Ser4502Cys) c.13463C>G (p.Ser4488Cys) c.13439C>G (p.Ser4480Cys) c.13409C>G (p.Ser4470Cys) c.13586C>G (p.Ser4529Cys) c.13436C>G (p.Ser4479Cys) c.10136C>G (p.Ser3379Cys) | |
| 8 | g.143916331G>T | CA372474198 | PLEC | c.13622C>A (p.Ser4541Tyr) c.13541C>A (p.Ser4514Tyr) c.13208C>A (p.Ser4403Tyr) c.13421C>A (p.Ser4474Tyr) c.13490C>A (p.Ser4497Tyr) c.10190C>A (p.Ser3397Tyr) c.13901C>A (p.Ser4634Tyr) c.13424C>A (p.Ser4475Tyr) c.13448C>A (p.Ser4483Tyr) c.13502C>A (p.Ser4501Tyr) c.13394C>A (p.Ser4465Tyr) c.13571C>A (p.Ser4524Tyr) c.13559C>A (p.Ser4520Tyr) c.13916C>A (p.Ser4639Tyr) c.13517C>A (p.Ser4506Tyr) c.13505C>A (p.Ser4502Tyr) c.13463C>A (p.Ser4488Tyr) c.13439C>A (p.Ser4480Tyr) c.13409C>A (p.Ser4470Tyr) c.13586C>A (p.Ser4529Tyr) c.13436C>A (p.Ser4479Tyr) c.10136C>A (p.Ser3379Tyr) | |
| 8 | g.143916342_143916353dup | CA4923783 | PLEC | c.13611_13622dup (p.Ser4541_Arg4542insArgThrGlySer) c.13530_13541dup (p.Ser4514_Arg4515insArgThrGlySer) c.13197_13208dup (p.Ser4403_Arg4404insArgThrGlySer) c.13410_13421dup (p.Ser4474_Arg4475insArgThrGlySer) c.13479_13490dup (p.Ser4497_Arg4498insArgThrGlySer) c.10179_10190dup (p.Ser3397_Arg3398insArgThrGlySer) c.13890_13901dup (p.Ser4634_Arg4635insArgThrGlySer) c.13413_13424dup (p.Ser4475_Arg4476insArgThrGlySer) c.13437_13448dup (p.Ser4483_Arg4484insArgThrGlySer) c.13491_13502dup (p.Ser4501_Arg4502insArgThrGlySer) c.13383_13394dup (p.Ser4465_Arg4466insArgThrGlySer) c.13560_13571dup (p.Ser4524_Arg4525insArgThrGlySer) c.13548_13559dup (p.Ser4520_Arg4521insArgThrGlySer) c.13905_13916dup (p.Ser4639_Arg4640insArgThrGlySer) c.13506_13517dup (p.Ser4506_Arg4507insArgThrGlySer) c.13494_13505dup (p.Ser4502_Arg4503insArgThrGlySer) c.13452_13463dup (p.Ser4488_Arg4489insArgThrGlySer) c.13428_13439dup (p.Ser4480_Arg4481insArgThrGlySer) c.13398_13409dup (p.Ser4470_Arg4471insArgThrGlySer) c.13575_13586dup (p.Ser4529_Arg4530insArgThrGlySer) c.13425_13436dup (p.Ser4479_Arg4480insArgThrGlySer) c.10125_10136dup (p.Ser3379_Arg3380insArgThrGlySer) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916342_143916353del | CA4923782 | PLEC | c.13611_13622del (p.Arg4538_Ser4541del) c.13530_13541del (p.Arg4511_Ser4514del) c.13197_13208del (p.Arg4400_Ser4403del) c.13410_13421del (p.Arg4471_Ser4474del) c.13479_13490del (p.Arg4494_Ser4497del) c.10179_10190del (p.Arg3394_Ser3397del) c.13890_13901del (p.Arg4631_Ser4634del) c.13413_13424del (p.Arg4472_Ser4475del) c.13437_13448del (p.Arg4480_Ser4483del) c.13491_13502del (p.Arg4498_Ser4501del) c.13383_13394del (p.Arg4462_Ser4465del) c.13560_13571del (p.Arg4521_Ser4524del) c.13548_13559del (p.Arg4517_Ser4520del) c.13905_13916del (p.Arg4636_Ser4639del) c.13506_13517del (p.Arg4503_Ser4506del) c.13494_13505del (p.Arg4499_Ser4502del) c.13452_13463del (p.Arg4485_Ser4488del) c.13428_13439del (p.Arg4477_Ser4480del) c.13398_13409del (p.Arg4467_Ser4470del) c.13575_13586del (p.Arg4526_Ser4529del) c.13425_13436del (p.Arg4476_Ser4479del) c.10125_10136del (p.Arg3376_Ser3379del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916332A= | CA1826036942 | PLEC | c.13621T= (p.Ser4541=) c.13540T= (p.Ser4514=) c.13207T= (p.Ser4403=) c.13420T= (p.Ser4474=) c.13489T= (p.Ser4497=) c.10189T= (p.Ser3397=) c.13900T= (p.Ser4634=) c.13423T= (p.Ser4475=) c.13447T= (p.Ser4483=) c.13501T= (p.Ser4501=) c.13393T= (p.Ser4465=) c.13570T= (p.Ser4524=) c.13558T= (p.Ser4520=) c.13915T= (p.Ser4639=) c.13516T= (p.Ser4506=) c.13504T= (p.Ser4502=) c.13462T= (p.Ser4488=) c.13438T= (p.Ser4480=) c.13408T= (p.Ser4470=) c.13585T= (p.Ser4529=) c.13435T= (p.Ser4479=) c.10135T= (p.Ser3379=) | |
| 8 | g.143916332A>C | CA372474200 | PLEC | c.13621T>G (p.Ser4541Ala) c.13540T>G (p.Ser4514Ala) c.13207T>G (p.Ser4403Ala) c.13420T>G (p.Ser4474Ala) c.13489T>G (p.Ser4497Ala) c.10189T>G (p.Ser3397Ala) c.13900T>G (p.Ser4634Ala) c.13423T>G (p.Ser4475Ala) c.13447T>G (p.Ser4483Ala) c.13501T>G (p.Ser4501Ala) c.13393T>G (p.Ser4465Ala) c.13570T>G (p.Ser4524Ala) c.13558T>G (p.Ser4520Ala) c.13915T>G (p.Ser4639Ala) c.13516T>G (p.Ser4506Ala) c.13504T>G (p.Ser4502Ala) c.13462T>G (p.Ser4488Ala) c.13438T>G (p.Ser4480Ala) c.13408T>G (p.Ser4470Ala) c.13585T>G (p.Ser4529Ala) c.13435T>G (p.Ser4479Ala) c.10135T>G (p.Ser3379Ala) | |
| 8 | g.143916332A>G | CA372474202 | PLEC | c.13621T>C (p.Ser4541Pro) c.13540T>C (p.Ser4514Pro) c.13207T>C (p.Ser4403Pro) c.13420T>C (p.Ser4474Pro) c.13489T>C (p.Ser4497Pro) c.10189T>C (p.Ser3397Pro) c.13900T>C (p.Ser4634Pro) c.13423T>C (p.Ser4475Pro) c.13447T>C (p.Ser4483Pro) c.13501T>C (p.Ser4501Pro) c.13393T>C (p.Ser4465Pro) c.13570T>C (p.Ser4524Pro) c.13558T>C (p.Ser4520Pro) c.13915T>C (p.Ser4639Pro) c.13516T>C (p.Ser4506Pro) c.13504T>C (p.Ser4502Pro) c.13462T>C (p.Ser4488Pro) c.13438T>C (p.Ser4480Pro) c.13408T>C (p.Ser4470Pro) c.13585T>C (p.Ser4529Pro) c.13435T>C (p.Ser4479Pro) c.10135T>C (p.Ser3379Pro) | ClinVar dbSNP |
| 8 | g.143916332A>T | CA372474205 | PLEC | c.13621T>A (p.Ser4541Thr) c.13540T>A (p.Ser4514Thr) c.13207T>A (p.Ser4403Thr) c.13420T>A (p.Ser4474Thr) c.13489T>A (p.Ser4497Thr) c.10189T>A (p.Ser3397Thr) c.13900T>A (p.Ser4634Thr) c.13423T>A (p.Ser4475Thr) c.13447T>A (p.Ser4483Thr) c.13501T>A (p.Ser4501Thr) c.13393T>A (p.Ser4465Thr) c.13570T>A (p.Ser4524Thr) c.13558T>A (p.Ser4520Thr) c.13915T>A (p.Ser4639Thr) c.13516T>A (p.Ser4506Thr) c.13504T>A (p.Ser4502Thr) c.13462T>A (p.Ser4488Thr) c.13438T>A (p.Ser4480Thr) c.13408T>A (p.Ser4470Thr) c.13585T>A (p.Ser4529Thr) c.13435T>A (p.Ser4479Thr) c.10135T>A (p.Ser3379Thr) | |
| 8 | g.143916333G>A | CA463526152 | PLEC | c.13620C>T (p.Gly4540=) c.13539C>T (p.Gly4513=) c.13206C>T (p.Gly4402=) c.13419C>T (p.Gly4473=) c.13488C>T (p.Gly4496=) c.10188C>T (p.Gly3396=) c.13899C>T (p.Gly4633=) c.13422C>T (p.Gly4474=) c.13446C>T (p.Gly4482=) c.13500C>T (p.Gly4500=) c.13392C>T (p.Gly4464=) c.13569C>T (p.Gly4523=) c.13557C>T (p.Gly4519=) c.13914C>T (p.Gly4638=) c.13515C>T (p.Gly4505=) c.13503C>T (p.Gly4501=) c.13461C>T (p.Gly4487=) c.13437C>T (p.Gly4479=) c.13407C>T (p.Gly4469=) c.13584C>T (p.Gly4528=) c.13434C>T (p.Gly4478=) c.10134C>T (p.Gly3378=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916333G>C | CA463526153 | PLEC | c.13620C>G (p.Gly4540=) c.13539C>G (p.Gly4513=) c.13206C>G (p.Gly4402=) c.13419C>G (p.Gly4473=) c.13488C>G (p.Gly4496=) c.10188C>G (p.Gly3396=) c.13899C>G (p.Gly4633=) c.13422C>G (p.Gly4474=) c.13446C>G (p.Gly4482=) c.13500C>G (p.Gly4500=) c.13392C>G (p.Gly4464=) c.13569C>G (p.Gly4523=) c.13557C>G (p.Gly4519=) c.13914C>G (p.Gly4638=) c.13515C>G (p.Gly4505=) c.13503C>G (p.Gly4501=) c.13461C>G (p.Gly4487=) c.13437C>G (p.Gly4479=) c.13407C>G (p.Gly4469=) c.13584C>G (p.Gly4528=) c.13434C>G (p.Gly4478=) c.10134C>G (p.Gly3378=) | |
| 8 | g.143916333G= | CA1826036945 | PLEC | c.13620C= (p.Gly4540=) c.13539C= (p.Gly4513=) c.13206C= (p.Gly4402=) c.13419C= (p.Gly4473=) c.13488C= (p.Gly4496=) c.10188C= (p.Gly3396=) c.13899C= (p.Gly4633=) c.13422C= (p.Gly4474=) c.13446C= (p.Gly4482=) c.13500C= (p.Gly4500=) c.13392C= (p.Gly4464=) c.13569C= (p.Gly4523=) c.13557C= (p.Gly4519=) c.13914C= (p.Gly4638=) c.13515C= (p.Gly4505=) c.13503C= (p.Gly4501=) c.13461C= (p.Gly4487=) c.13437C= (p.Gly4479=) c.13407C= (p.Gly4469=) c.13584C= (p.Gly4528=) c.13434C= (p.Gly4478=) c.10134C= (p.Gly3378=) | |
| 8 | g.143916333G>T | CA463526154 | PLEC | c.13620C>A (p.Gly4540=) c.13539C>A (p.Gly4513=) c.13206C>A (p.Gly4402=) c.13419C>A (p.Gly4473=) c.13488C>A (p.Gly4496=) c.10188C>A (p.Gly3396=) c.13899C>A (p.Gly4633=) c.13422C>A (p.Gly4474=) c.13446C>A (p.Gly4482=) c.13500C>A (p.Gly4500=) c.13392C>A (p.Gly4464=) c.13569C>A (p.Gly4523=) c.13557C>A (p.Gly4519=) c.13914C>A (p.Gly4638=) c.13515C>A (p.Gly4505=) c.13503C>A (p.Gly4501=) c.13461C>A (p.Gly4487=) c.13437C>A (p.Gly4479=) c.13407C>A (p.Gly4469=) c.13584C>A (p.Gly4528=) c.13434C>A (p.Gly4478=) c.10134C>A (p.Gly3378=) | |
| 8 | g.143916334C>A | CA187606037 | PLEC | c.13619G>T (p.Gly4540Val) c.13538G>T (p.Gly4513Val) c.13205G>T (p.Gly4402Val) c.13418G>T (p.Gly4473Val) c.13487G>T (p.Gly4496Val) c.10187G>T (p.Gly3396Val) c.13898G>T (p.Gly4633Val) c.13421G>T (p.Gly4474Val) c.13445G>T (p.Gly4482Val) c.13499G>T (p.Gly4500Val) c.13391G>T (p.Gly4464Val) c.13568G>T (p.Gly4523Val) c.13556G>T (p.Gly4519Val) c.13913G>T (p.Gly4638Val) c.13514G>T (p.Gly4505Val) c.13502G>T (p.Gly4501Val) c.13460G>T (p.Gly4487Val) c.13436G>T (p.Gly4479Val) c.13406G>T (p.Gly4469Val) c.13583G>T (p.Gly4528Val) c.13433G>T (p.Gly4478Val) c.10133G>T (p.Gly3378Val) | dbSNP |
| 8 | g.143916334C= | CA1826036947 | PLEC | c.13619G= (p.Gly4540=) c.13538G= (p.Gly4513=) c.13205G= (p.Gly4402=) c.13418G= (p.Gly4473=) c.13487G= (p.Gly4496=) c.10187G= (p.Gly3396=) c.13898G= (p.Gly4633=) c.13421G= (p.Gly4474=) c.13445G= (p.Gly4482=) c.13499G= (p.Gly4500=) c.13391G= (p.Gly4464=) c.13568G= (p.Gly4523=) c.13556G= (p.Gly4519=) c.13913G= (p.Gly4638=) c.13514G= (p.Gly4505=) c.13502G= (p.Gly4501=) c.13460G= (p.Gly4487=) c.13436G= (p.Gly4479=) c.13406G= (p.Gly4469=) c.13583G= (p.Gly4528=) c.13433G= (p.Gly4478=) c.10133G= (p.Gly3378=) | |
| 8 | g.143916334C>G | CA372474210 | PLEC | c.13619G>C (p.Gly4540Ala) c.13538G>C (p.Gly4513Ala) c.13205G>C (p.Gly4402Ala) c.13418G>C (p.Gly4473Ala) c.13487G>C (p.Gly4496Ala) c.10187G>C (p.Gly3396Ala) c.13898G>C (p.Gly4633Ala) c.13421G>C (p.Gly4474Ala) c.13445G>C (p.Gly4482Ala) c.13499G>C (p.Gly4500Ala) c.13391G>C (p.Gly4464Ala) c.13568G>C (p.Gly4523Ala) c.13556G>C (p.Gly4519Ala) c.13913G>C (p.Gly4638Ala) c.13514G>C (p.Gly4505Ala) c.13502G>C (p.Gly4501Ala) c.13460G>C (p.Gly4487Ala) c.13436G>C (p.Gly4479Ala) c.13406G>C (p.Gly4469Ala) c.13583G>C (p.Gly4528Ala) c.13433G>C (p.Gly4478Ala) c.10133G>C (p.Gly3378Ala) | |
| 8 | g.143916334C>T | CA372474212 | PLEC | c.13619G>A (p.Gly4540Asp) c.13538G>A (p.Gly4513Asp) c.13205G>A (p.Gly4402Asp) c.13418G>A (p.Gly4473Asp) c.13487G>A (p.Gly4496Asp) c.10187G>A (p.Gly3396Asp) c.13898G>A (p.Gly4633Asp) c.13421G>A (p.Gly4474Asp) c.13445G>A (p.Gly4482Asp) c.13499G>A (p.Gly4500Asp) c.13391G>A (p.Gly4464Asp) c.13568G>A (p.Gly4523Asp) c.13556G>A (p.Gly4519Asp) c.13913G>A (p.Gly4638Asp) c.13514G>A (p.Gly4505Asp) c.13502G>A (p.Gly4501Asp) c.13460G>A (p.Gly4487Asp) c.13436G>A (p.Gly4479Asp) c.13406G>A (p.Gly4469Asp) c.13583G>A (p.Gly4528Asp) c.13433G>A (p.Gly4478Asp) c.10133G>A (p.Gly3378Asp) | |
| 8 | g.143916335C>A | CA372474230 | PLEC | c.13618G>T (p.Gly4540Cys) c.13537G>T (p.Gly4513Cys) c.13204G>T (p.Gly4402Cys) c.13417G>T (p.Gly4473Cys) c.13486G>T (p.Gly4496Cys) c.10186G>T (p.Gly3396Cys) c.13897G>T (p.Gly4633Cys) c.13420G>T (p.Gly4474Cys) c.13444G>T (p.Gly4482Cys) c.13498G>T (p.Gly4500Cys) c.13390G>T (p.Gly4464Cys) c.13567G>T (p.Gly4523Cys) c.13555G>T (p.Gly4519Cys) c.13912G>T (p.Gly4638Cys) c.13513G>T (p.Gly4505Cys) c.13501G>T (p.Gly4501Cys) c.13459G>T (p.Gly4487Cys) c.13435G>T (p.Gly4479Cys) c.13405G>T (p.Gly4469Cys) c.13582G>T (p.Gly4528Cys) c.13432G>T (p.Gly4478Cys) c.10132G>T (p.Gly3378Cys) | |
| 8 | g.143916335C= | CA1826036950 | PLEC | c.13618G= (p.Gly4540=) c.13537G= (p.Gly4513=) c.13204G= (p.Gly4402=) c.13417G= (p.Gly4473=) c.13486G= (p.Gly4496=) c.10186G= (p.Gly3396=) c.13897G= (p.Gly4633=) c.13420G= (p.Gly4474=) c.13444G= (p.Gly4482=) c.13498G= (p.Gly4500=) c.13390G= (p.Gly4464=) c.13567G= (p.Gly4523=) c.13555G= (p.Gly4519=) c.13912G= (p.Gly4638=) c.13513G= (p.Gly4505=) c.13501G= (p.Gly4501=) c.13459G= (p.Gly4487=) c.13435G= (p.Gly4479=) c.13405G= (p.Gly4469=) c.13582G= (p.Gly4528=) c.13432G= (p.Gly4478=) c.10132G= (p.Gly3378=) | |
| 8 | g.143916335C>G | CA372474225 | PLEC | c.13618G>C (p.Gly4540Arg) c.13537G>C (p.Gly4513Arg) c.13204G>C (p.Gly4402Arg) c.13417G>C (p.Gly4473Arg) c.13486G>C (p.Gly4496Arg) c.10186G>C (p.Gly3396Arg) c.13897G>C (p.Gly4633Arg) c.13420G>C (p.Gly4474Arg) c.13444G>C (p.Gly4482Arg) c.13498G>C (p.Gly4500Arg) c.13390G>C (p.Gly4464Arg) c.13567G>C (p.Gly4523Arg) c.13555G>C (p.Gly4519Arg) c.13912G>C (p.Gly4638Arg) c.13513G>C (p.Gly4505Arg) c.13501G>C (p.Gly4501Arg) c.13459G>C (p.Gly4487Arg) c.13435G>C (p.Gly4479Arg) c.13405G>C (p.Gly4469Arg) c.13582G>C (p.Gly4528Arg) c.13432G>C (p.Gly4478Arg) c.10132G>C (p.Gly3378Arg) | gnomAD v4 |
| 8 | g.143916335C>T | CA4923784 | PLEC | c.13618G>A (p.Gly4540Ser) c.13537G>A (p.Gly4513Ser) c.13204G>A (p.Gly4402Ser) c.13417G>A (p.Gly4473Ser) c.13486G>A (p.Gly4496Ser) c.10186G>A (p.Gly3396Ser) c.13897G>A (p.Gly4633Ser) c.13420G>A (p.Gly4474Ser) c.13444G>A (p.Gly4482Ser) c.13498G>A (p.Gly4500Ser) c.13390G>A (p.Gly4464Ser) c.13567G>A (p.Gly4523Ser) c.13555G>A (p.Gly4519Ser) c.13912G>A (p.Gly4638Ser) c.13513G>A (p.Gly4505Ser) c.13501G>A (p.Gly4501Ser) c.13459G>A (p.Gly4487Ser) c.13435G>A (p.Gly4479Ser) c.13405G>A (p.Gly4469Ser) c.13582G>A (p.Gly4528Ser) c.13432G>A (p.Gly4478Ser) c.10132G>A (p.Gly3378Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916336G>A | CA4923785 | PLEC | c.13617C>T (p.Thr4539=) c.13536C>T (p.Thr4512=) c.13203C>T (p.Thr4401=) c.13416C>T (p.Thr4472=) c.13485C>T (p.Thr4495=) c.10185C>T (p.Thr3395=) c.13896C>T (p.Thr4632=) c.13419C>T (p.Thr4473=) c.13443C>T (p.Thr4481=) c.13497C>T (p.Thr4499=) c.13389C>T (p.Thr4463=) c.13566C>T (p.Thr4522=) c.13554C>T (p.Thr4518=) c.13911C>T (p.Thr4637=) c.13512C>T (p.Thr4504=) c.13500C>T (p.Thr4500=) c.13458C>T (p.Thr4486=) c.13434C>T (p.Thr4478=) c.13404C>T (p.Thr4468=) c.13581C>T (p.Thr4527=) c.13431C>T (p.Thr4477=) c.10131C>T (p.Thr3377=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916336G>C | CA463526159 | PLEC | c.13617C>G (p.Thr4539=) c.13536C>G (p.Thr4512=) c.13203C>G (p.Thr4401=) c.13416C>G (p.Thr4472=) c.13485C>G (p.Thr4495=) c.10185C>G (p.Thr3395=) c.13896C>G (p.Thr4632=) c.13419C>G (p.Thr4473=) c.13443C>G (p.Thr4481=) c.13497C>G (p.Thr4499=) c.13389C>G (p.Thr4463=) c.13566C>G (p.Thr4522=) c.13554C>G (p.Thr4518=) c.13911C>G (p.Thr4637=) c.13512C>G (p.Thr4504=) c.13500C>G (p.Thr4500=) c.13458C>G (p.Thr4486=) c.13434C>G (p.Thr4478=) c.13404C>G (p.Thr4468=) c.13581C>G (p.Thr4527=) c.13431C>G (p.Thr4477=) c.10131C>G (p.Thr3377=) | |
| 8 | g.143916336G= | CA1826036953 | PLEC | c.13617C= (p.Thr4539=) c.13536C= (p.Thr4512=) c.13203C= (p.Thr4401=) c.13416C= (p.Thr4472=) c.13485C= (p.Thr4495=) c.10185C= (p.Thr3395=) c.13896C= (p.Thr4632=) c.13419C= (p.Thr4473=) c.13443C= (p.Thr4481=) c.13497C= (p.Thr4499=) c.13389C= (p.Thr4463=) c.13566C= (p.Thr4522=) c.13554C= (p.Thr4518=) c.13911C= (p.Thr4637=) c.13512C= (p.Thr4504=) c.13500C= (p.Thr4500=) c.13458C= (p.Thr4486=) c.13434C= (p.Thr4478=) c.13404C= (p.Thr4468=) c.13581C= (p.Thr4527=) c.13431C= (p.Thr4477=) c.10131C= (p.Thr3377=) | |
| 8 | g.143916336G>T | CA463526160 | PLEC | c.13617C>A (p.Thr4539=) c.13536C>A (p.Thr4512=) c.13203C>A (p.Thr4401=) c.13416C>A (p.Thr4472=) c.13485C>A (p.Thr4495=) c.10185C>A (p.Thr3395=) c.13896C>A (p.Thr4632=) c.13419C>A (p.Thr4473=) c.13443C>A (p.Thr4481=) c.13497C>A (p.Thr4499=) c.13389C>A (p.Thr4463=) c.13566C>A (p.Thr4522=) c.13554C>A (p.Thr4518=) c.13911C>A (p.Thr4637=) c.13512C>A (p.Thr4504=) c.13500C>A (p.Thr4500=) c.13458C>A (p.Thr4486=) c.13434C>A (p.Thr4478=) c.13404C>A (p.Thr4468=) c.13581C>A (p.Thr4527=) c.13431C>A (p.Thr4477=) c.10131C>A (p.Thr3377=) | |
| 8 | g.143916337G>A | CA372474237 | PLEC | c.13616C>T (p.Thr4539Ile) c.13535C>T (p.Thr4512Ile) c.13202C>T (p.Thr4401Ile) c.13415C>T (p.Thr4472Ile) c.13484C>T (p.Thr4495Ile) c.10184C>T (p.Thr3395Ile) c.13895C>T (p.Thr4632Ile) c.13418C>T (p.Thr4473Ile) c.13442C>T (p.Thr4481Ile) c.13496C>T (p.Thr4499Ile) c.13388C>T (p.Thr4463Ile) c.13565C>T (p.Thr4522Ile) c.13553C>T (p.Thr4518Ile) c.13910C>T (p.Thr4637Ile) c.13511C>T (p.Thr4504Ile) c.13499C>T (p.Thr4500Ile) c.13457C>T (p.Thr4486Ile) c.13433C>T (p.Thr4478Ile) c.13403C>T (p.Thr4468Ile) c.13580C>T (p.Thr4527Ile) c.13430C>T (p.Thr4477Ile) c.10130C>T (p.Thr3377Ile) | dbSNP gnomAD v2 |
| 8 | g.143916337G>C | CA372474239 | PLEC | c.13616C>G (p.Thr4539Ser) c.13535C>G (p.Thr4512Ser) c.13202C>G (p.Thr4401Ser) c.13415C>G (p.Thr4472Ser) c.13484C>G (p.Thr4495Ser) c.10184C>G (p.Thr3395Ser) c.13895C>G (p.Thr4632Ser) c.13418C>G (p.Thr4473Ser) c.13442C>G (p.Thr4481Ser) c.13496C>G (p.Thr4499Ser) c.13388C>G (p.Thr4463Ser) c.13565C>G (p.Thr4522Ser) c.13553C>G (p.Thr4518Ser) c.13910C>G (p.Thr4637Ser) c.13511C>G (p.Thr4504Ser) c.13499C>G (p.Thr4500Ser) c.13457C>G (p.Thr4486Ser) c.13433C>G (p.Thr4478Ser) c.13403C>G (p.Thr4468Ser) c.13580C>G (p.Thr4527Ser) c.13430C>G (p.Thr4477Ser) c.10130C>G (p.Thr3377Ser) | |
| 8 | g.143916337G= | CA1826036956 | PLEC | c.13616C= (p.Thr4539=) c.13535C= (p.Thr4512=) c.13202C= (p.Thr4401=) c.13415C= (p.Thr4472=) c.13484C= (p.Thr4495=) c.10184C= (p.Thr3395=) c.13895C= (p.Thr4632=) c.13418C= (p.Thr4473=) c.13442C= (p.Thr4481=) c.13496C= (p.Thr4499=) c.13388C= (p.Thr4463=) c.13565C= (p.Thr4522=) c.13553C= (p.Thr4518=) c.13910C= (p.Thr4637=) c.13511C= (p.Thr4504=) c.13499C= (p.Thr4500=) c.13457C= (p.Thr4486=) c.13433C= (p.Thr4478=) c.13403C= (p.Thr4468=) c.13580C= (p.Thr4527=) c.13430C= (p.Thr4477=) c.10130C= (p.Thr3377=) | |
| 8 | g.143916337G>T | CA372474241 | PLEC | c.13616C>A (p.Thr4539Asn) c.13535C>A (p.Thr4512Asn) c.13202C>A (p.Thr4401Asn) c.13415C>A (p.Thr4472Asn) c.13484C>A (p.Thr4495Asn) c.10184C>A (p.Thr3395Asn) c.13895C>A (p.Thr4632Asn) c.13418C>A (p.Thr4473Asn) c.13442C>A (p.Thr4481Asn) c.13496C>A (p.Thr4499Asn) c.13388C>A (p.Thr4463Asn) c.13565C>A (p.Thr4522Asn) c.13553C>A (p.Thr4518Asn) c.13910C>A (p.Thr4637Asn) c.13511C>A (p.Thr4504Asn) c.13499C>A (p.Thr4500Asn) c.13457C>A (p.Thr4486Asn) c.13433C>A (p.Thr4478Asn) c.13403C>A (p.Thr4468Asn) c.13580C>A (p.Thr4527Asn) c.13430C>A (p.Thr4477Asn) c.10130C>A (p.Thr3377Asn) | |
| 8 | g.143916338T>A | CA372474245 | PLEC | c.13615A>T (p.Thr4539Ser) c.13534A>T (p.Thr4512Ser) c.13201A>T (p.Thr4401Ser) c.13414A>T (p.Thr4472Ser) c.13483A>T (p.Thr4495Ser) c.10183A>T (p.Thr3395Ser) c.13894A>T (p.Thr4632Ser) c.13417A>T (p.Thr4473Ser) c.13441A>T (p.Thr4481Ser) c.13495A>T (p.Thr4499Ser) c.13387A>T (p.Thr4463Ser) c.13564A>T (p.Thr4522Ser) c.13552A>T (p.Thr4518Ser) c.13909A>T (p.Thr4637Ser) c.13510A>T (p.Thr4504Ser) c.13498A>T (p.Thr4500Ser) c.13456A>T (p.Thr4486Ser) c.13432A>T (p.Thr4478Ser) c.13402A>T (p.Thr4468Ser) c.13579A>T (p.Thr4527Ser) c.13429A>T (p.Thr4477Ser) c.10129A>T (p.Thr3377Ser) | gnomAD v4 |
| 8 | g.143916338T>C | CA4923786 | PLEC | c.13615A>G (p.Thr4539Ala) c.13534A>G (p.Thr4512Ala) c.13201A>G (p.Thr4401Ala) c.13414A>G (p.Thr4472Ala) c.13483A>G (p.Thr4495Ala) c.10183A>G (p.Thr3395Ala) c.13894A>G (p.Thr4632Ala) c.13417A>G (p.Thr4473Ala) c.13441A>G (p.Thr4481Ala) c.13495A>G (p.Thr4499Ala) c.13387A>G (p.Thr4463Ala) c.13564A>G (p.Thr4522Ala) c.13552A>G (p.Thr4518Ala) c.13909A>G (p.Thr4637Ala) c.13510A>G (p.Thr4504Ala) c.13498A>G (p.Thr4500Ala) c.13456A>G (p.Thr4486Ala) c.13432A>G (p.Thr4478Ala) c.13402A>G (p.Thr4468Ala) c.13579A>G (p.Thr4527Ala) c.13429A>G (p.Thr4477Ala) c.10129A>G (p.Thr3377Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916338T>G | CA372474254 | PLEC | c.13615A>C (p.Thr4539Pro) c.13534A>C (p.Thr4512Pro) c.13201A>C (p.Thr4401Pro) c.13414A>C (p.Thr4472Pro) c.13483A>C (p.Thr4495Pro) c.10183A>C (p.Thr3395Pro) c.13894A>C (p.Thr4632Pro) c.13417A>C (p.Thr4473Pro) c.13441A>C (p.Thr4481Pro) c.13495A>C (p.Thr4499Pro) c.13387A>C (p.Thr4463Pro) c.13564A>C (p.Thr4522Pro) c.13552A>C (p.Thr4518Pro) c.13909A>C (p.Thr4637Pro) c.13510A>C (p.Thr4504Pro) c.13498A>C (p.Thr4500Pro) c.13456A>C (p.Thr4486Pro) c.13432A>C (p.Thr4478Pro) c.13402A>C (p.Thr4468Pro) c.13579A>C (p.Thr4527Pro) c.13429A>C (p.Thr4477Pro) c.10129A>C (p.Thr3377Pro) | dbSNP gnomAD v4 |
| 8 | g.143916338T= | CA1826036964 | PLEC | c.13615A= (p.Thr4539=) c.13534A= (p.Thr4512=) c.13201A= (p.Thr4401=) c.13414A= (p.Thr4472=) c.13483A= (p.Thr4495=) c.10183A= (p.Thr3395=) c.13894A= (p.Thr4632=) c.13417A= (p.Thr4473=) c.13441A= (p.Thr4481=) c.13495A= (p.Thr4499=) c.13387A= (p.Thr4463=) c.13564A= (p.Thr4522=) c.13552A= (p.Thr4518=) c.13909A= (p.Thr4637=) c.13510A= (p.Thr4504=) c.13498A= (p.Thr4500=) c.13456A= (p.Thr4486=) c.13432A= (p.Thr4478=) c.13402A= (p.Thr4468=) c.13579A= (p.Thr4527=) c.13429A= (p.Thr4477=) c.10129A= (p.Thr3377=) | |
| 8 | g.143916338_143916339delinsCC | CA915948720 | PLEC | c.13614_13615delinsGG (p.Thr4539Ala) c.13533_13534delinsGG (p.Thr4512Ala) c.13200_13201delinsGG (p.Thr4401Ala) c.13413_13414delinsGG (p.Thr4472Ala) c.13482_13483delinsGG (p.Thr4495Ala) c.10182_10183delinsGG (p.Thr3395Ala) c.13893_13894delinsGG (p.Thr4632Ala) c.13416_13417delinsGG (p.Thr4473Ala) c.13440_13441delinsGG (p.Thr4481Ala) c.13494_13495delinsGG (p.Thr4499Ala) c.13386_13387delinsGG (p.Thr4463Ala) c.13563_13564delinsGG (p.Thr4522Ala) c.13551_13552delinsGG (p.Thr4518Ala) c.13908_13909delinsGG (p.Thr4637Ala) c.13509_13510delinsGG (p.Thr4504Ala) c.13497_13498delinsGG (p.Thr4500Ala) c.13455_13456delinsGG (p.Thr4486Ala) c.13431_13432delinsGG (p.Thr4478Ala) c.13401_13402delinsGG (p.Thr4468Ala) c.13578_13579delinsGG (p.Thr4527Ala) c.13428_13429delinsGG (p.Thr4477Ala) c.10128_10129delinsGG (p.Thr3377Ala) | ClinVar dbSNP |
| 8 | g.143916338_143916339delinsTG | CA1826036961 | PLEC | c.13614_13615delinsCA (p.Arg4538=) c.13533_13534delinsCA (p.Arg4511=) c.13200_13201delinsCA (p.Arg4400=) c.13413_13414delinsCA (p.Arg4471=) c.13482_13483delinsCA (p.Arg4494=) c.10182_10183delinsCA (p.Arg3394=) c.13893_13894delinsCA (p.Arg4631=) c.13416_13417delinsCA (p.Arg4472=) c.13440_13441delinsCA (p.Arg4480=) c.13494_13495delinsCA (p.Arg4498=) c.13386_13387delinsCA (p.Arg4462=) c.13563_13564delinsCA (p.Arg4521=) c.13551_13552delinsCA (p.Arg4517=) c.13908_13909delinsCA (p.Arg4636=) c.13509_13510delinsCA (p.Arg4503=) c.13497_13498delinsCA (p.Arg4499=) c.13455_13456delinsCA (p.Arg4485=) c.13431_13432delinsCA (p.Arg4477=) c.13401_13402delinsCA (p.Arg4467=) c.13578_13579delinsCA (p.Arg4526=) c.13428_13429delinsCA (p.Arg4476=) c.10128_10129delinsCA (p.Arg3376=) | |
| 8 | g.143916339G>A | CA463526165 | PLEC | c.13614C>T (p.Arg4538=) c.13533C>T (p.Arg4511=) c.13200C>T (p.Arg4400=) c.13413C>T (p.Arg4471=) c.13482C>T (p.Arg4494=) c.10182C>T (p.Arg3394=) c.13893C>T (p.Arg4631=) c.13416C>T (p.Arg4472=) c.13440C>T (p.Arg4480=) c.13494C>T (p.Arg4498=) c.13386C>T (p.Arg4462=) c.13563C>T (p.Arg4521=) c.13551C>T (p.Arg4517=) c.13908C>T (p.Arg4636=) c.13509C>T (p.Arg4503=) c.13497C>T (p.Arg4499=) c.13455C>T (p.Arg4485=) c.13431C>T (p.Arg4477=) c.13401C>T (p.Arg4467=) c.13578C>T (p.Arg4526=) c.13428C>T (p.Arg4476=) c.10128C>T (p.Arg3376=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143916339G>C | CA4923787 | PLEC | c.13614C>G (p.Arg4538=) c.13533C>G (p.Arg4511=) c.13200C>G (p.Arg4400=) c.13413C>G (p.Arg4471=) c.13482C>G (p.Arg4494=) c.10182C>G (p.Arg3394=) c.13893C>G (p.Arg4631=) c.13416C>G (p.Arg4472=) c.13440C>G (p.Arg4480=) c.13494C>G (p.Arg4498=) c.13386C>G (p.Arg4462=) c.13563C>G (p.Arg4521=) c.13551C>G (p.Arg4517=) c.13908C>G (p.Arg4636=) c.13509C>G (p.Arg4503=) c.13497C>G (p.Arg4499=) c.13455C>G (p.Arg4485=) c.13431C>G (p.Arg4477=) c.13401C>G (p.Arg4467=) c.13578C>G (p.Arg4526=) c.13428C>G (p.Arg4476=) c.10128C>G (p.Arg3376=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916339G= | CA1826036967 | PLEC | c.13614C= (p.Arg4538=) c.13533C= (p.Arg4511=) c.13200C= (p.Arg4400=) c.13413C= (p.Arg4471=) c.13482C= (p.Arg4494=) c.10182C= (p.Arg3394=) c.13893C= (p.Arg4631=) c.13416C= (p.Arg4472=) c.13440C= (p.Arg4480=) c.13494C= (p.Arg4498=) c.13386C= (p.Arg4462=) c.13563C= (p.Arg4521=) c.13551C= (p.Arg4517=) c.13908C= (p.Arg4636=) c.13509C= (p.Arg4503=) c.13497C= (p.Arg4499=) c.13455C= (p.Arg4485=) c.13431C= (p.Arg4477=) c.13401C= (p.Arg4467=) c.13578C= (p.Arg4526=) c.13428C= (p.Arg4476=) c.10128C= (p.Arg3376=) | |
| 8 | g.143916339G>T | CA463526166 | PLEC | c.13614C>A (p.Arg4538=) c.13533C>A (p.Arg4511=) c.13200C>A (p.Arg4400=) c.13413C>A (p.Arg4471=) c.13482C>A (p.Arg4494=) c.10182C>A (p.Arg3394=) c.13893C>A (p.Arg4631=) c.13416C>A (p.Arg4472=) c.13440C>A (p.Arg4480=) c.13494C>A (p.Arg4498=) c.13386C>A (p.Arg4462=) c.13563C>A (p.Arg4521=) c.13551C>A (p.Arg4517=) c.13908C>A (p.Arg4636=) c.13509C>A (p.Arg4503=) c.13497C>A (p.Arg4499=) c.13455C>A (p.Arg4485=) c.13431C>A (p.Arg4477=) c.13401C>A (p.Arg4467=) c.13578C>A (p.Arg4526=) c.13428C>A (p.Arg4476=) c.10128C>A (p.Arg3376=) | |
| 8 | g.143916340C>A | CA372474257 | PLEC | c.13613G>T (p.Arg4538Leu) c.13532G>T (p.Arg4511Leu) c.13199G>T (p.Arg4400Leu) c.13412G>T (p.Arg4471Leu) c.13481G>T (p.Arg4494Leu) c.10181G>T (p.Arg3394Leu) c.13892G>T (p.Arg4631Leu) c.13415G>T (p.Arg4472Leu) c.13439G>T (p.Arg4480Leu) c.13493G>T (p.Arg4498Leu) c.13385G>T (p.Arg4462Leu) c.13562G>T (p.Arg4521Leu) c.13550G>T (p.Arg4517Leu) c.13907G>T (p.Arg4636Leu) c.13508G>T (p.Arg4503Leu) c.13496G>T (p.Arg4499Leu) c.13454G>T (p.Arg4485Leu) c.13430G>T (p.Arg4477Leu) c.13400G>T (p.Arg4467Leu) c.13577G>T (p.Arg4526Leu) c.13427G>T (p.Arg4476Leu) c.10127G>T (p.Arg3376Leu) | |
| 8 | g.143916340C= | CA1826036969 | PLEC | c.13613G= (p.Arg4538=) c.13532G= (p.Arg4511=) c.13199G= (p.Arg4400=) c.13412G= (p.Arg4471=) c.13481G= (p.Arg4494=) c.10181G= (p.Arg3394=) c.13892G= (p.Arg4631=) c.13415G= (p.Arg4472=) c.13439G= (p.Arg4480=) c.13493G= (p.Arg4498=) c.13385G= (p.Arg4462=) c.13562G= (p.Arg4521=) c.13550G= (p.Arg4517=) c.13907G= (p.Arg4636=) c.13508G= (p.Arg4503=) c.13496G= (p.Arg4499=) c.13454G= (p.Arg4485=) c.13430G= (p.Arg4477=) c.13400G= (p.Arg4467=) c.13577G= (p.Arg4526=) c.13427G= (p.Arg4476=) c.10127G= (p.Arg3376=) | |
| 8 | g.143916340C>G | CA372474258 | PLEC | c.13613G>C (p.Arg4538Pro) c.13532G>C (p.Arg4511Pro) c.13199G>C (p.Arg4400Pro) c.13412G>C (p.Arg4471Pro) c.13481G>C (p.Arg4494Pro) c.10181G>C (p.Arg3394Pro) c.13892G>C (p.Arg4631Pro) c.13415G>C (p.Arg4472Pro) c.13439G>C (p.Arg4480Pro) c.13493G>C (p.Arg4498Pro) c.13385G>C (p.Arg4462Pro) c.13562G>C (p.Arg4521Pro) c.13550G>C (p.Arg4517Pro) c.13907G>C (p.Arg4636Pro) c.13508G>C (p.Arg4503Pro) c.13496G>C (p.Arg4499Pro) c.13454G>C (p.Arg4485Pro) c.13430G>C (p.Arg4477Pro) c.13400G>C (p.Arg4467Pro) c.13577G>C (p.Arg4526Pro) c.13427G>C (p.Arg4476Pro) c.10127G>C (p.Arg3376Pro) | |
| 8 | g.143916340C>T | CA4923788 | PLEC | c.13613G>A (p.Arg4538His) c.13532G>A (p.Arg4511His) c.13199G>A (p.Arg4400His) c.13412G>A (p.Arg4471His) c.13481G>A (p.Arg4494His) c.10181G>A (p.Arg3394His) c.13892G>A (p.Arg4631His) c.13415G>A (p.Arg4472His) c.13439G>A (p.Arg4480His) c.13493G>A (p.Arg4498His) c.13385G>A (p.Arg4462His) c.13562G>A (p.Arg4521His) c.13550G>A (p.Arg4517His) c.13907G>A (p.Arg4636His) c.13508G>A (p.Arg4503His) c.13496G>A (p.Arg4499His) c.13454G>A (p.Arg4485His) c.13430G>A (p.Arg4477His) c.13400G>A (p.Arg4467His) c.13577G>A (p.Arg4526His) c.13427G>A (p.Arg4476His) c.10127G>A (p.Arg3376His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916341G>A | CA4923789 | PLEC | c.13612C>T (p.Arg4538Cys) c.13531C>T (p.Arg4511Cys) c.13198C>T (p.Arg4400Cys) c.13411C>T (p.Arg4471Cys) c.13480C>T (p.Arg4494Cys) c.10180C>T (p.Arg3394Cys) c.13891C>T (p.Arg4631Cys) c.13414C>T (p.Arg4472Cys) c.13438C>T (p.Arg4480Cys) c.13492C>T (p.Arg4498Cys) c.13384C>T (p.Arg4462Cys) c.13561C>T (p.Arg4521Cys) c.13549C>T (p.Arg4517Cys) c.13906C>T (p.Arg4636Cys) c.13507C>T (p.Arg4503Cys) c.13495C>T (p.Arg4499Cys) c.13453C>T (p.Arg4485Cys) c.13429C>T (p.Arg4477Cys) c.13399C>T (p.Arg4467Cys) c.13576C>T (p.Arg4526Cys) c.13426C>T (p.Arg4476Cys) c.10126C>T (p.Arg3376Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916341G>C | CA372474264 | PLEC | c.13612C>G (p.Arg4538Gly) c.13531C>G (p.Arg4511Gly) c.13198C>G (p.Arg4400Gly) c.13411C>G (p.Arg4471Gly) c.13480C>G (p.Arg4494Gly) c.10180C>G (p.Arg3394Gly) c.13891C>G (p.Arg4631Gly) c.13414C>G (p.Arg4472Gly) c.13438C>G (p.Arg4480Gly) c.13492C>G (p.Arg4498Gly) c.13384C>G (p.Arg4462Gly) c.13561C>G (p.Arg4521Gly) c.13549C>G (p.Arg4517Gly) c.13906C>G (p.Arg4636Gly) c.13507C>G (p.Arg4503Gly) c.13495C>G (p.Arg4499Gly) c.13453C>G (p.Arg4485Gly) c.13429C>G (p.Arg4477Gly) c.13399C>G (p.Arg4467Gly) c.13576C>G (p.Arg4526Gly) c.13426C>G (p.Arg4476Gly) c.10126C>G (p.Arg3376Gly) | |
| 8 | g.143916341G= | CA1826036972 | PLEC | c.13612C= (p.Arg4538=) c.13531C= (p.Arg4511=) c.13198C= (p.Arg4400=) c.13411C= (p.Arg4471=) c.13480C= (p.Arg4494=) c.10180C= (p.Arg3394=) c.13891C= (p.Arg4631=) c.13414C= (p.Arg4472=) c.13438C= (p.Arg4480=) c.13492C= (p.Arg4498=) c.13384C= (p.Arg4462=) c.13561C= (p.Arg4521=) c.13549C= (p.Arg4517=) c.13906C= (p.Arg4636=) c.13507C= (p.Arg4503=) c.13495C= (p.Arg4499=) c.13453C= (p.Arg4485=) c.13429C= (p.Arg4477=) c.13399C= (p.Arg4467=) c.13576C= (p.Arg4526=) c.13426C= (p.Arg4476=) c.10126C= (p.Arg3376=) | |
| 8 | g.143916341G>T | CA372474262 | PLEC | c.13612C>A (p.Arg4538Ser) c.13531C>A (p.Arg4511Ser) c.13198C>A (p.Arg4400Ser) c.13411C>A (p.Arg4471Ser) c.13480C>A (p.Arg4494Ser) c.10180C>A (p.Arg3394Ser) c.13891C>A (p.Arg4631Ser) c.13414C>A (p.Arg4472Ser) c.13438C>A (p.Arg4480Ser) c.13492C>A (p.Arg4498Ser) c.13384C>A (p.Arg4462Ser) c.13561C>A (p.Arg4521Ser) c.13549C>A (p.Arg4517Ser) c.13906C>A (p.Arg4636Ser) c.13507C>A (p.Arg4503Ser) c.13495C>A (p.Arg4499Ser) c.13453C>A (p.Arg4485Ser) c.13429C>A (p.Arg4477Ser) c.13399C>A (p.Arg4467Ser) c.13576C>A (p.Arg4526Ser) c.13426C>A (p.Arg4476Ser) c.10126C>A (p.Arg3376Ser) | gnomAD v4 |
| 8 | g.143916342C>A | CA463526177 | PLEC | c.13611G>T (p.Ser4537=) c.13530G>T (p.Ser4510=) c.13197G>T (p.Ser4399=) c.13410G>T (p.Ser4470=) c.13479G>T (p.Ser4493=) c.10179G>T (p.Ser3393=) c.13890G>T (p.Ser4630=) c.13413G>T (p.Ser4471=) c.13437G>T (p.Ser4479=) c.13491G>T (p.Ser4497=) c.13383G>T (p.Ser4461=) c.13560G>T (p.Ser4520=) c.13548G>T (p.Ser4516=) c.13905G>T (p.Ser4635=) c.13506G>T (p.Ser4502=) c.13494G>T (p.Ser4498=) c.13452G>T (p.Ser4484=) c.13428G>T (p.Ser4476=) c.13398G>T (p.Ser4466=) c.13575G>T (p.Ser4525=) c.13425G>T (p.Ser4475=) c.10125G>T (p.Ser3375=) | |
| 8 | g.143916342C= | CA1826036974 | PLEC | c.13611G= (p.Ser4537=) c.13530G= (p.Ser4510=) c.13197G= (p.Ser4399=) c.13410G= (p.Ser4470=) c.13479G= (p.Ser4493=) c.10179G= (p.Ser3393=) c.13890G= (p.Ser4630=) c.13413G= (p.Ser4471=) c.13437G= (p.Ser4479=) c.13491G= (p.Ser4497=) c.13383G= (p.Ser4461=) c.13560G= (p.Ser4520=) c.13548G= (p.Ser4516=) c.13905G= (p.Ser4635=) c.13506G= (p.Ser4502=) c.13494G= (p.Ser4498=) c.13452G= (p.Ser4484=) c.13428G= (p.Ser4476=) c.13398G= (p.Ser4466=) c.13575G= (p.Ser4525=) c.13425G= (p.Ser4475=) c.10125G= (p.Ser3375=) | |
| 8 | g.143916342C>G | CA4923791 | PLEC | c.13611G>C (p.Ser4537=) c.13530G>C (p.Ser4510=) c.13197G>C (p.Ser4399=) c.13410G>C (p.Ser4470=) c.13479G>C (p.Ser4493=) c.10179G>C (p.Ser3393=) c.13890G>C (p.Ser4630=) c.13413G>C (p.Ser4471=) c.13437G>C (p.Ser4479=) c.13491G>C (p.Ser4497=) c.13383G>C (p.Ser4461=) c.13560G>C (p.Ser4520=) c.13548G>C (p.Ser4516=) c.13905G>C (p.Ser4635=) c.13506G>C (p.Ser4502=) c.13494G>C (p.Ser4498=) c.13452G>C (p.Ser4484=) c.13428G>C (p.Ser4476=) c.13398G>C (p.Ser4466=) c.13575G>C (p.Ser4525=) c.13425G>C (p.Ser4475=) c.10125G>C (p.Ser3375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916342C>T | CA4923790 | PLEC | c.13611G>A (p.Ser4537=) c.13530G>A (p.Ser4510=) c.13197G>A (p.Ser4399=) c.13410G>A (p.Ser4470=) c.13479G>A (p.Ser4493=) c.10179G>A (p.Ser3393=) c.13890G>A (p.Ser4630=) c.13413G>A (p.Ser4471=) c.13437G>A (p.Ser4479=) c.13491G>A (p.Ser4497=) c.13383G>A (p.Ser4461=) c.13560G>A (p.Ser4520=) c.13548G>A (p.Ser4516=) c.13905G>A (p.Ser4635=) c.13506G>A (p.Ser4502=) c.13494G>A (p.Ser4498=) c.13452G>A (p.Ser4484=) c.13428G>A (p.Ser4476=) c.13398G>A (p.Ser4466=) c.13575G>A (p.Ser4525=) c.13425G>A (p.Ser4475=) c.10125G>A (p.Ser3375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916342_143916354delinsCGAGCCGGTGCGG | CA1826036975 | PLEC | c.13599_13611delinsCCGCACCGGCTCG (p.Ser4533=) c.13518_13530delinsCCGCACCGGCTCG (p.Ser4506=) c.13185_13197delinsCCGCACCGGCTCG (p.Ser4395=) c.13398_13410delinsCCGCACCGGCTCG (p.Ser4466=) c.13467_13479delinsCCGCACCGGCTCG (p.Ser4489=) c.10167_10179delinsCCGCACCGGCTCG (p.Ser3389=) c.13878_13890delinsCCGCACCGGCTCG (p.Ser4626=) c.13401_13413delinsCCGCACCGGCTCG (p.Ser4467=) c.13425_13437delinsCCGCACCGGCTCG (p.Ser4475=) c.13479_13491delinsCCGCACCGGCTCG (p.Ser4493=) c.13371_13383delinsCCGCACCGGCTCG (p.Ser4457=) c.13548_13560delinsCCGCACCGGCTCG (p.Ser4516=) c.13536_13548delinsCCGCACCGGCTCG (p.Ser4512=) c.13893_13905delinsCCGCACCGGCTCG (p.Ser4631=) c.13494_13506delinsCCGCACCGGCTCG (p.Ser4498=) c.13482_13494delinsCCGCACCGGCTCG (p.Ser4494=) c.13440_13452delinsCCGCACCGGCTCG (p.Ser4480=) c.13416_13428delinsCCGCACCGGCTCG (p.Ser4472=) c.13386_13398delinsCCGCACCGGCTCG (p.Ser4462=) c.13563_13575delinsCCGCACCGGCTCG (p.Ser4521=) c.13413_13425delinsCCGCACCGGCTCG (p.Ser4471=) c.10113_10125delinsCCGCACCGGCTCG (p.Ser3371=) | |
| 8 | g.143916343G>A | CA4923792 | PLEC | c.13610C>T (p.Ser4537Leu) c.13529C>T (p.Ser4510Leu) c.13196C>T (p.Ser4399Leu) c.13409C>T (p.Ser4470Leu) c.13478C>T (p.Ser4493Leu) c.10178C>T (p.Ser3393Leu) c.13889C>T (p.Ser4630Leu) c.13412C>T (p.Ser4471Leu) c.13436C>T (p.Ser4479Leu) c.13490C>T (p.Ser4497Leu) c.13382C>T (p.Ser4461Leu) c.13559C>T (p.Ser4520Leu) c.13547C>T (p.Ser4516Leu) c.13904C>T (p.Ser4635Leu) c.13505C>T (p.Ser4502Leu) c.13493C>T (p.Ser4498Leu) c.13451C>T (p.Ser4484Leu) c.13427C>T (p.Ser4476Leu) c.13397C>T (p.Ser4466Leu) c.13574C>T (p.Ser4525Leu) c.13424C>T (p.Ser4475Leu) c.10124C>T (p.Ser3375Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143916343G>C | CA372474275 | PLEC | c.13610C>G (p.Ser4537Trp) c.13529C>G (p.Ser4510Trp) c.13196C>G (p.Ser4399Trp) c.13409C>G (p.Ser4470Trp) c.13478C>G (p.Ser4493Trp) c.10178C>G (p.Ser3393Trp) c.13889C>G (p.Ser4630Trp) c.13412C>G (p.Ser4471Trp) c.13436C>G (p.Ser4479Trp) c.13490C>G (p.Ser4497Trp) c.13382C>G (p.Ser4461Trp) c.13559C>G (p.Ser4520Trp) c.13547C>G (p.Ser4516Trp) c.13904C>G (p.Ser4635Trp) c.13505C>G (p.Ser4502Trp) c.13493C>G (p.Ser4498Trp) c.13451C>G (p.Ser4484Trp) c.13427C>G (p.Ser4476Trp) c.13397C>G (p.Ser4466Trp) c.13574C>G (p.Ser4525Trp) c.13424C>G (p.Ser4475Trp) c.10124C>G (p.Ser3375Trp) | gnomAD v4 |
| 8 | g.143916343G= | CA1826036982 | PLEC | c.13610C= (p.Ser4537=) c.13529C= (p.Ser4510=) c.13196C= (p.Ser4399=) c.13409C= (p.Ser4470=) c.13478C= (p.Ser4493=) c.10178C= (p.Ser3393=) c.13889C= (p.Ser4630=) c.13412C= (p.Ser4471=) c.13436C= (p.Ser4479=) c.13490C= (p.Ser4497=) c.13382C= (p.Ser4461=) c.13559C= (p.Ser4520=) c.13547C= (p.Ser4516=) c.13904C= (p.Ser4635=) c.13505C= (p.Ser4502=) c.13493C= (p.Ser4498=) c.13451C= (p.Ser4484=) c.13427C= (p.Ser4476=) c.13397C= (p.Ser4466=) c.13574C= (p.Ser4525=) c.13424C= (p.Ser4475=) c.10124C= (p.Ser3375=) | |
| 8 | g.143916343G>T | CA372474272 | PLEC | c.13610C>A (p.Ser4537Ter) c.13529C>A (p.Ser4510Ter) c.13196C>A (p.Ser4399Ter) c.13409C>A (p.Ser4470Ter) c.13478C>A (p.Ser4493Ter) c.10178C>A (p.Ser3393Ter) c.13889C>A (p.Ser4630Ter) c.13412C>A (p.Ser4471Ter) c.13436C>A (p.Ser4479Ter) c.13490C>A (p.Ser4497Ter) c.13382C>A (p.Ser4461Ter) c.13559C>A (p.Ser4520Ter) c.13547C>A (p.Ser4516Ter) c.13904C>A (p.Ser4635Ter) c.13505C>A (p.Ser4502Ter) c.13493C>A (p.Ser4498Ter) c.13451C>A (p.Ser4484Ter) c.13427C>A (p.Ser4476Ter) c.13397C>A (p.Ser4466Ter) c.13574C>A (p.Ser4525Ter) c.13424C>A (p.Ser4475Ter) c.10124C>A (p.Ser3375Ter) | dbSNP gnomAD v2 |
| 8 | g.143916348_143916359dup | CA1826036980 | PLEC | c.13599_13610dup (p.Ser4537_Arg4538insArgThrGlySer) c.13518_13529dup (p.Ser4510_Arg4511insArgThrGlySer) c.13185_13196dup (p.Ser4399_Arg4400insArgThrGlySer) c.13398_13409dup (p.Ser4470_Arg4471insArgThrGlySer) c.13467_13478dup (p.Ser4493_Arg4494insArgThrGlySer) c.10167_10178dup (p.Ser3393_Arg3394insArgThrGlySer) c.13878_13889dup (p.Ser4630_Arg4631insArgThrGlySer) c.13401_13412dup (p.Ser4471_Arg4472insArgThrGlySer) c.13425_13436dup (p.Ser4479_Arg4480insArgThrGlySer) c.13479_13490dup (p.Ser4497_Arg4498insArgThrGlySer) c.13371_13382dup (p.Ser4461_Arg4462insArgThrGlySer) c.13548_13559dup (p.Ser4520_Arg4521insArgThrGlySer) c.13536_13547dup (p.Ser4516_Arg4517insArgThrGlySer) c.13893_13904dup (p.Ser4635_Arg4636insArgThrGlySer) c.13494_13505dup (p.Ser4502_Arg4503insArgThrGlySer) c.13482_13493dup (p.Ser4498_Arg4499insArgThrGlySer) c.13440_13451dup (p.Ser4484_Arg4485insArgThrGlySer) c.13416_13427dup (p.Ser4476_Arg4477insArgThrGlySer) c.13386_13397dup (p.Ser4466_Arg4467insArgThrGlySer) c.13563_13574dup (p.Ser4525_Arg4526insArgThrGlySer) c.13413_13424dup (p.Ser4475_Arg4476insArgThrGlySer) c.10113_10124dup (p.Ser3375_Arg3376insArgThrGlySer) | dbSNP gnomAD v4 |
| 8 | g.143916348_143916359del | CA848820039 | PLEC | c.13599_13610del (p.Arg4534_Ser4537del) c.13518_13529del (p.Arg4507_Ser4510del) c.13185_13196del (p.Arg4396_Ser4399del) c.13398_13409del (p.Arg4467_Ser4470del) c.13467_13478del (p.Arg4490_Ser4493del) c.10167_10178del (p.Arg3390_Ser3393del) c.13878_13889del (p.Arg4627_Ser4630del) c.13401_13412del (p.Arg4468_Ser4471del) c.13425_13436del (p.Arg4476_Ser4479del) c.13479_13490del (p.Arg4494_Ser4497del) c.13371_13382del (p.Arg4458_Ser4461del) c.13548_13559del (p.Arg4517_Ser4520del) c.13536_13547del (p.Arg4513_Ser4516del) c.13893_13904del (p.Arg4632_Ser4635del) c.13494_13505del (p.Arg4499_Ser4502del) c.13482_13493del (p.Arg4495_Ser4498del) c.13440_13451del (p.Arg4481_Ser4484del) c.13416_13427del (p.Arg4473_Ser4476del) c.13386_13397del (p.Arg4463_Ser4466del) c.13563_13574del (p.Arg4522_Ser4525del) c.13413_13424del (p.Arg4472_Ser4475del) c.10113_10124del (p.Arg3372_Ser3375del) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143916350_143916373del | CA2579275385 | PLEC | c.13587_13610del (p.Thr4530_Ser4537del) c.13506_13529del (p.Thr4503_Ser4510del) c.13173_13196del (p.Thr4392_Ser4399del) c.13386_13409del (p.Thr4463_Ser4470del) c.13455_13478del (p.Thr4486_Ser4493del) c.10155_10178del (p.Thr3386_Ser3393del) c.13866_13889del (p.Thr4623_Ser4630del) c.13389_13412del (p.Thr4464_Ser4471del) c.13413_13436del (p.Thr4472_Ser4479del) c.13467_13490del (p.Thr4490_Ser4497del) c.13359_13382del (p.Thr4454_Ser4461del) c.13536_13559del (p.Thr4513_Ser4520del) c.13524_13547del (p.Thr4509_Ser4516del) c.13881_13904del (p.Thr4628_Ser4635del) c.13482_13505del (p.Thr4495_Ser4502del) c.13470_13493del (p.Thr4491_Ser4498del) c.13428_13451del (p.Thr4477_Ser4484del) c.13404_13427del (p.Thr4469_Ser4476del) c.13374_13397del (p.Thr4459_Ser4466del) c.13551_13574del (p.Thr4518_Ser4525del) c.13401_13424del (p.Thr4468_Ser4475del) c.10101_10124del (p.Thr3368_Ser3375del) | |
| 8 | g.143916344A>C | CA372474277 | PLEC | c.13609T>G (p.Ser4537Ala) c.13528T>G (p.Ser4510Ala) c.13195T>G (p.Ser4399Ala) c.13408T>G (p.Ser4470Ala) c.13477T>G (p.Ser4493Ala) c.10177T>G (p.Ser3393Ala) c.13888T>G (p.Ser4630Ala) c.13411T>G (p.Ser4471Ala) c.13435T>G (p.Ser4479Ala) c.13489T>G (p.Ser4497Ala) c.13381T>G (p.Ser4461Ala) c.13558T>G (p.Ser4520Ala) c.13546T>G (p.Ser4516Ala) c.13903T>G (p.Ser4635Ala) c.13504T>G (p.Ser4502Ala) c.13492T>G (p.Ser4498Ala) c.13450T>G (p.Ser4484Ala) c.13426T>G (p.Ser4476Ala) c.13396T>G (p.Ser4466Ala) c.13573T>G (p.Ser4525Ala) c.13423T>G (p.Ser4475Ala) c.10123T>G (p.Ser3375Ala) | |
| 8 | g.143916344A>G | CA372474284 | PLEC | c.13609T>C (p.Ser4537Pro) c.13528T>C (p.Ser4510Pro) c.13195T>C (p.Ser4399Pro) c.13408T>C (p.Ser4470Pro) c.13477T>C (p.Ser4493Pro) c.10177T>C (p.Ser3393Pro) c.13888T>C (p.Ser4630Pro) c.13411T>C (p.Ser4471Pro) c.13435T>C (p.Ser4479Pro) c.13489T>C (p.Ser4497Pro) c.13381T>C (p.Ser4461Pro) c.13558T>C (p.Ser4520Pro) c.13546T>C (p.Ser4516Pro) c.13903T>C (p.Ser4635Pro) c.13504T>C (p.Ser4502Pro) c.13492T>C (p.Ser4498Pro) c.13450T>C (p.Ser4484Pro) c.13426T>C (p.Ser4476Pro) c.13396T>C (p.Ser4466Pro) c.13573T>C (p.Ser4525Pro) c.13423T>C (p.Ser4475Pro) c.10123T>C (p.Ser3375Pro) | gnomAD v4 |
| 8 | g.143916344A>T | CA372474281 | PLEC | c.13609T>A (p.Ser4537Thr) c.13528T>A (p.Ser4510Thr) c.13195T>A (p.Ser4399Thr) c.13408T>A (p.Ser4470Thr) c.13477T>A (p.Ser4493Thr) c.10177T>A (p.Ser3393Thr) c.13888T>A (p.Ser4630Thr) c.13411T>A (p.Ser4471Thr) c.13435T>A (p.Ser4479Thr) c.13489T>A (p.Ser4497Thr) c.13381T>A (p.Ser4461Thr) c.13558T>A (p.Ser4520Thr) c.13546T>A (p.Ser4516Thr) c.13903T>A (p.Ser4635Thr) c.13504T>A (p.Ser4502Thr) c.13492T>A (p.Ser4498Thr) c.13450T>A (p.Ser4484Thr) c.13426T>A (p.Ser4476Thr) c.13396T>A (p.Ser4466Thr) c.13573T>A (p.Ser4525Thr) c.13423T>A (p.Ser4475Thr) c.10123T>A (p.Ser3375Thr) | |
| 8 | g.143916345G>A | CA463526184 | PLEC | c.13608C>T (p.Gly4536=) c.13527C>T (p.Gly4509=) c.13194C>T (p.Gly4398=) c.13407C>T (p.Gly4469=) c.13476C>T (p.Gly4492=) c.10176C>T (p.Gly3392=) c.13887C>T (p.Gly4629=) c.13410C>T (p.Gly4470=) c.13434C>T (p.Gly4478=) c.13488C>T (p.Gly4496=) c.13380C>T (p.Gly4460=) c.13557C>T (p.Gly4519=) c.13545C>T (p.Gly4515=) c.13902C>T (p.Gly4634=) c.13503C>T (p.Gly4501=) c.13491C>T (p.Gly4497=) c.13449C>T (p.Gly4483=) c.13425C>T (p.Gly4475=) c.13395C>T (p.Gly4465=) c.13572C>T (p.Gly4524=) c.13422C>T (p.Gly4474=) c.10122C>T (p.Gly3374=) | |
| 8 | g.143916345G>C | CA463526186 | PLEC | c.13608C>G (p.Gly4536=) c.13527C>G (p.Gly4509=) c.13194C>G (p.Gly4398=) c.13407C>G (p.Gly4469=) c.13476C>G (p.Gly4492=) c.10176C>G (p.Gly3392=) c.13887C>G (p.Gly4629=) c.13410C>G (p.Gly4470=) c.13434C>G (p.Gly4478=) c.13488C>G (p.Gly4496=) c.13380C>G (p.Gly4460=) c.13557C>G (p.Gly4519=) c.13545C>G (p.Gly4515=) c.13902C>G (p.Gly4634=) c.13503C>G (p.Gly4501=) c.13491C>G (p.Gly4497=) c.13449C>G (p.Gly4483=) c.13425C>G (p.Gly4475=) c.13395C>G (p.Gly4465=) c.13572C>G (p.Gly4524=) c.13422C>G (p.Gly4474=) c.10122C>G (p.Gly3374=) | gnomAD v4 |
| 8 | g.143916345G>T | CA463526187 | PLEC | c.13608C>A (p.Gly4536=) c.13527C>A (p.Gly4509=) c.13194C>A (p.Gly4398=) c.13407C>A (p.Gly4469=) c.13476C>A (p.Gly4492=) c.10176C>A (p.Gly3392=) c.13887C>A (p.Gly4629=) c.13410C>A (p.Gly4470=) c.13434C>A (p.Gly4478=) c.13488C>A (p.Gly4496=) c.13380C>A (p.Gly4460=) c.13557C>A (p.Gly4519=) c.13545C>A (p.Gly4515=) c.13902C>A (p.Gly4634=) c.13503C>A (p.Gly4501=) c.13491C>A (p.Gly4497=) c.13449C>A (p.Gly4483=) c.13425C>A (p.Gly4475=) c.13395C>A (p.Gly4465=) c.13572C>A (p.Gly4524=) c.13422C>A (p.Gly4474=) c.10122C>A (p.Gly3374=) | gnomAD v4 |
| 8 | g.143916346C>A | CA372474288 | PLEC | c.13607G>T (p.Gly4536Val) c.13526G>T (p.Gly4509Val) c.13193G>T (p.Gly4398Val) c.13406G>T (p.Gly4469Val) c.13475G>T (p.Gly4492Val) c.10175G>T (p.Gly3392Val) c.13886G>T (p.Gly4629Val) c.13409G>T (p.Gly4470Val) c.13433G>T (p.Gly4478Val) c.13487G>T (p.Gly4496Val) c.13379G>T (p.Gly4460Val) c.13556G>T (p.Gly4519Val) c.13544G>T (p.Gly4515Val) c.13901G>T (p.Gly4634Val) c.13502G>T (p.Gly4501Val) c.13490G>T (p.Gly4497Val) c.13448G>T (p.Gly4483Val) c.13424G>T (p.Gly4475Val) c.13394G>T (p.Gly4465Val) c.13571G>T (p.Gly4524Val) c.13421G>T (p.Gly4474Val) c.10121G>T (p.Gly3374Val) | |
| 8 | g.143916346C>G | CA372474290 | PLEC | c.13607G>C (p.Gly4536Ala) c.13526G>C (p.Gly4509Ala) c.13193G>C (p.Gly4398Ala) c.13406G>C (p.Gly4469Ala) c.13475G>C (p.Gly4492Ala) c.10175G>C (p.Gly3392Ala) c.13886G>C (p.Gly4629Ala) c.13409G>C (p.Gly4470Ala) c.13433G>C (p.Gly4478Ala) c.13487G>C (p.Gly4496Ala) c.13379G>C (p.Gly4460Ala) c.13556G>C (p.Gly4519Ala) c.13544G>C (p.Gly4515Ala) c.13901G>C (p.Gly4634Ala) c.13502G>C (p.Gly4501Ala) c.13490G>C (p.Gly4497Ala) c.13448G>C (p.Gly4483Ala) c.13424G>C (p.Gly4475Ala) c.13394G>C (p.Gly4465Ala) c.13571G>C (p.Gly4524Ala) c.13421G>C (p.Gly4474Ala) c.10121G>C (p.Gly3374Ala) | |
| 8 | g.143916346C>T | CA372474294 | PLEC | c.13607G>A (p.Gly4536Asp) c.13526G>A (p.Gly4509Asp) c.13193G>A (p.Gly4398Asp) c.13406G>A (p.Gly4469Asp) c.13475G>A (p.Gly4492Asp) c.10175G>A (p.Gly3392Asp) c.13886G>A (p.Gly4629Asp) c.13409G>A (p.Gly4470Asp) c.13433G>A (p.Gly4478Asp) c.13487G>A (p.Gly4496Asp) c.13379G>A (p.Gly4460Asp) c.13556G>A (p.Gly4519Asp) c.13544G>A (p.Gly4515Asp) c.13901G>A (p.Gly4634Asp) c.13502G>A (p.Gly4501Asp) c.13490G>A (p.Gly4497Asp) c.13448G>A (p.Gly4483Asp) c.13424G>A (p.Gly4475Asp) c.13394G>A (p.Gly4465Asp) c.13571G>A (p.Gly4524Asp) c.13421G>A (p.Gly4474Asp) c.10121G>A (p.Gly3374Asp) | ClinVar |
| 8 | g.143916347C>A | CA372474297 | PLEC | c.13606G>T (p.Gly4536Cys) c.13525G>T (p.Gly4509Cys) c.13192G>T (p.Gly4398Cys) c.13405G>T (p.Gly4469Cys) c.13474G>T (p.Gly4492Cys) c.10174G>T (p.Gly3392Cys) c.13885G>T (p.Gly4629Cys) c.13408G>T (p.Gly4470Cys) c.13432G>T (p.Gly4478Cys) c.13486G>T (p.Gly4496Cys) c.13378G>T (p.Gly4460Cys) c.13555G>T (p.Gly4519Cys) c.13543G>T (p.Gly4515Cys) c.13900G>T (p.Gly4634Cys) c.13501G>T (p.Gly4501Cys) c.13489G>T (p.Gly4497Cys) c.13447G>T (p.Gly4483Cys) c.13423G>T (p.Gly4475Cys) c.13393G>T (p.Gly4465Cys) c.13570G>T (p.Gly4524Cys) c.13420G>T (p.Gly4474Cys) c.10120G>T (p.Gly3374Cys) | |
| 8 | g.143916347C= | CA1826036986 | PLEC | c.13606G= (p.Gly4536=) c.13525G= (p.Gly4509=) c.13192G= (p.Gly4398=) c.13405G= (p.Gly4469=) c.13474G= (p.Gly4492=) c.10174G= (p.Gly3392=) c.13885G= (p.Gly4629=) c.13408G= (p.Gly4470=) c.13432G= (p.Gly4478=) c.13486G= (p.Gly4496=) c.13378G= (p.Gly4460=) c.13555G= (p.Gly4519=) c.13543G= (p.Gly4515=) c.13900G= (p.Gly4634=) c.13501G= (p.Gly4501=) c.13489G= (p.Gly4497=) c.13447G= (p.Gly4483=) c.13423G= (p.Gly4475=) c.13393G= (p.Gly4465=) c.13570G= (p.Gly4524=) c.13420G= (p.Gly4474=) c.10120G= (p.Gly3374=) | |
| 8 | g.143916347C>G | CA372474300 | PLEC | c.13606G>C (p.Gly4536Arg) c.13525G>C (p.Gly4509Arg) c.13192G>C (p.Gly4398Arg) c.13405G>C (p.Gly4469Arg) c.13474G>C (p.Gly4492Arg) c.10174G>C (p.Gly3392Arg) c.13885G>C (p.Gly4629Arg) c.13408G>C (p.Gly4470Arg) c.13432G>C (p.Gly4478Arg) c.13486G>C (p.Gly4496Arg) c.13378G>C (p.Gly4460Arg) c.13555G>C (p.Gly4519Arg) c.13543G>C (p.Gly4515Arg) c.13900G>C (p.Gly4634Arg) c.13501G>C (p.Gly4501Arg) c.13489G>C (p.Gly4497Arg) c.13447G>C (p.Gly4483Arg) c.13423G>C (p.Gly4475Arg) c.13393G>C (p.Gly4465Arg) c.13570G>C (p.Gly4524Arg) c.13420G>C (p.Gly4474Arg) c.10120G>C (p.Gly3374Arg) | |
| 8 | g.143916347C>T | CA4923793 | PLEC | c.13606G>A (p.Gly4536Ser) c.13525G>A (p.Gly4509Ser) c.13192G>A (p.Gly4398Ser) c.13405G>A (p.Gly4469Ser) c.13474G>A (p.Gly4492Ser) c.10174G>A (p.Gly3392Ser) c.13885G>A (p.Gly4629Ser) c.13408G>A (p.Gly4470Ser) c.13432G>A (p.Gly4478Ser) c.13486G>A (p.Gly4496Ser) c.13378G>A (p.Gly4460Ser) c.13555G>A (p.Gly4519Ser) c.13543G>A (p.Gly4515Ser) c.13900G>A (p.Gly4634Ser) c.13501G>A (p.Gly4501Ser) c.13489G>A (p.Gly4497Ser) c.13447G>A (p.Gly4483Ser) c.13423G>A (p.Gly4475Ser) c.13393G>A (p.Gly4465Ser) c.13570G>A (p.Gly4524Ser) c.13420G>A (p.Gly4474Ser) c.10120G>A (p.Gly3374Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916348G>A | CA4923794 | PLEC | c.13605C>T (p.Thr4535=) c.13524C>T (p.Thr4508=) c.13191C>T (p.Thr4397=) c.13404C>T (p.Thr4468=) c.13473C>T (p.Thr4491=) c.10173C>T (p.Thr3391=) c.13884C>T (p.Thr4628=) c.13407C>T (p.Thr4469=) c.13431C>T (p.Thr4477=) c.13485C>T (p.Thr4495=) c.13377C>T (p.Thr4459=) c.13554C>T (p.Thr4518=) c.13542C>T (p.Thr4514=) c.13899C>T (p.Thr4633=) c.13500C>T (p.Thr4500=) c.13488C>T (p.Thr4496=) c.13446C>T (p.Thr4482=) c.13422C>T (p.Thr4474=) c.13392C>T (p.Thr4464=) c.13569C>T (p.Thr4523=) c.13419C>T (p.Thr4473=) c.10119C>T (p.Thr3373=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916348G>C | CA463526192 | PLEC | c.13605C>G (p.Thr4535=) c.13524C>G (p.Thr4508=) c.13191C>G (p.Thr4397=) c.13404C>G (p.Thr4468=) c.13473C>G (p.Thr4491=) c.10173C>G (p.Thr3391=) c.13884C>G (p.Thr4628=) c.13407C>G (p.Thr4469=) c.13431C>G (p.Thr4477=) c.13485C>G (p.Thr4495=) c.13377C>G (p.Thr4459=) c.13554C>G (p.Thr4518=) c.13542C>G (p.Thr4514=) c.13899C>G (p.Thr4633=) c.13500C>G (p.Thr4500=) c.13488C>G (p.Thr4496=) c.13446C>G (p.Thr4482=) c.13422C>G (p.Thr4474=) c.13392C>G (p.Thr4464=) c.13569C>G (p.Thr4523=) c.13419C>G (p.Thr4473=) c.10119C>G (p.Thr3373=) | |
| 8 | g.143916348G= | CA1826036991 | PLEC | c.13605C= (p.Thr4535=) c.13524C= (p.Thr4508=) c.13191C= (p.Thr4397=) c.13404C= (p.Thr4468=) c.13473C= (p.Thr4491=) c.10173C= (p.Thr3391=) c.13884C= (p.Thr4628=) c.13407C= (p.Thr4469=) c.13431C= (p.Thr4477=) c.13485C= (p.Thr4495=) c.13377C= (p.Thr4459=) c.13554C= (p.Thr4518=) c.13542C= (p.Thr4514=) c.13899C= (p.Thr4633=) c.13500C= (p.Thr4500=) c.13488C= (p.Thr4496=) c.13446C= (p.Thr4482=) c.13422C= (p.Thr4474=) c.13392C= (p.Thr4464=) c.13569C= (p.Thr4523=) c.13419C= (p.Thr4473=) c.10119C= (p.Thr3373=) | |
| 8 | g.143916348G>T | CA463526191 | PLEC | c.13605C>A (p.Thr4535=) c.13524C>A (p.Thr4508=) c.13191C>A (p.Thr4397=) c.13404C>A (p.Thr4468=) c.13473C>A (p.Thr4491=) c.10173C>A (p.Thr3391=) c.13884C>A (p.Thr4628=) c.13407C>A (p.Thr4469=) c.13431C>A (p.Thr4477=) c.13485C>A (p.Thr4495=) c.13377C>A (p.Thr4459=) c.13554C>A (p.Thr4518=) c.13542C>A (p.Thr4514=) c.13899C>A (p.Thr4633=) c.13500C>A (p.Thr4500=) c.13488C>A (p.Thr4496=) c.13446C>A (p.Thr4482=) c.13422C>A (p.Thr4474=) c.13392C>A (p.Thr4464=) c.13569C>A (p.Thr4523=) c.13419C>A (p.Thr4473=) c.10119C>A (p.Thr3373=) | gnomAD v4 |
| 8 | g.143916348_143916360delinsGGTGCGGGAGCCA | CA1826036990 | PLEC | c.13593_13605delinsTGGCTCCCGCACC (p.Ala4531=) c.13512_13524delinsTGGCTCCCGCACC (p.Ala4504=) c.13179_13191delinsTGGCTCCCGCACC (p.Ala4393=) c.13392_13404delinsTGGCTCCCGCACC (p.Ala4464=) c.13461_13473delinsTGGCTCCCGCACC (p.Ala4487=) c.10161_10173delinsTGGCTCCCGCACC (p.Ala3387=) c.13872_13884delinsTGGCTCCCGCACC (p.Ala4624=) c.13395_13407delinsTGGCTCCCGCACC (p.Ala4465=) c.13419_13431delinsTGGCTCCCGCACC (p.Ala4473=) c.13473_13485delinsTGGCTCCCGCACC (p.Ala4491=) c.13365_13377delinsTGGCTCCCGCACC (p.Ala4455=) c.13542_13554delinsTGGCTCCCGCACC (p.Ala4514=) c.13530_13542delinsTGGCTCCCGCACC (p.Ala4510=) c.13887_13899delinsTGGCTCCCGCACC (p.Ala4629=) c.13488_13500delinsTGGCTCCCGCACC (p.Ala4496=) c.13476_13488delinsTGGCTCCCGCACC (p.Ala4492=) c.13434_13446delinsTGGCTCCCGCACC (p.Ala4478=) c.13410_13422delinsTGGCTCCCGCACC (p.Ala4470=) c.13380_13392delinsTGGCTCCCGCACC (p.Ala4460=) c.13557_13569delinsTGGCTCCCGCACC (p.Ala4519=) c.13407_13419delinsTGGCTCCCGCACC (p.Ala4469=) c.10107_10119delinsTGGCTCCCGCACC (p.Ala3369=) | |
| 8 | g.143916349G>A | CA372474307 | PLEC | c.13604C>T (p.Thr4535Ile) c.13523C>T (p.Thr4508Ile) c.13190C>T (p.Thr4397Ile) c.13403C>T (p.Thr4468Ile) c.13472C>T (p.Thr4491Ile) c.10172C>T (p.Thr3391Ile) c.13883C>T (p.Thr4628Ile) c.13406C>T (p.Thr4469Ile) c.13430C>T (p.Thr4477Ile) c.13484C>T (p.Thr4495Ile) c.13376C>T (p.Thr4459Ile) c.13553C>T (p.Thr4518Ile) c.13541C>T (p.Thr4514Ile) c.13898C>T (p.Thr4633Ile) c.13499C>T (p.Thr4500Ile) c.13487C>T (p.Thr4496Ile) c.13445C>T (p.Thr4482Ile) c.13421C>T (p.Thr4474Ile) c.13391C>T (p.Thr4464Ile) c.13568C>T (p.Thr4523Ile) c.13418C>T (p.Thr4473Ile) c.10118C>T (p.Thr3373Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143916349G>C | CA372474309 | PLEC | c.13604C>G (p.Thr4535Ser) c.13523C>G (p.Thr4508Ser) c.13190C>G (p.Thr4397Ser) c.13403C>G (p.Thr4468Ser) c.13472C>G (p.Thr4491Ser) c.10172C>G (p.Thr3391Ser) c.13883C>G (p.Thr4628Ser) c.13406C>G (p.Thr4469Ser) c.13430C>G (p.Thr4477Ser) c.13484C>G (p.Thr4495Ser) c.13376C>G (p.Thr4459Ser) c.13553C>G (p.Thr4518Ser) c.13541C>G (p.Thr4514Ser) c.13898C>G (p.Thr4633Ser) c.13499C>G (p.Thr4500Ser) c.13487C>G (p.Thr4496Ser) c.13445C>G (p.Thr4482Ser) c.13421C>G (p.Thr4474Ser) c.13391C>G (p.Thr4464Ser) c.13568C>G (p.Thr4523Ser) c.13418C>G (p.Thr4473Ser) c.10118C>G (p.Thr3373Ser) | dbSNP |
| 8 | g.143916349G= | CA1826036994 | PLEC | c.13604C= (p.Thr4535=) c.13523C= (p.Thr4508=) c.13190C= (p.Thr4397=) c.13403C= (p.Thr4468=) c.13472C= (p.Thr4491=) c.10172C= (p.Thr3391=) c.13883C= (p.Thr4628=) c.13406C= (p.Thr4469=) c.13430C= (p.Thr4477=) c.13484C= (p.Thr4495=) c.13376C= (p.Thr4459=) c.13553C= (p.Thr4518=) c.13541C= (p.Thr4514=) c.13898C= (p.Thr4633=) c.13499C= (p.Thr4500=) c.13487C= (p.Thr4496=) c.13445C= (p.Thr4482=) c.13421C= (p.Thr4474=) c.13391C= (p.Thr4464=) c.13568C= (p.Thr4523=) c.13418C= (p.Thr4473=) c.10118C= (p.Thr3373=) | |
| 8 | g.143916349G>T | CA372474311 | PLEC | c.13604C>A (p.Thr4535Asn) c.13523C>A (p.Thr4508Asn) c.13190C>A (p.Thr4397Asn) c.13403C>A (p.Thr4468Asn) c.13472C>A (p.Thr4491Asn) c.10172C>A (p.Thr3391Asn) c.13883C>A (p.Thr4628Asn) c.13406C>A (p.Thr4469Asn) c.13430C>A (p.Thr4477Asn) c.13484C>A (p.Thr4495Asn) c.13376C>A (p.Thr4459Asn) c.13553C>A (p.Thr4518Asn) c.13541C>A (p.Thr4514Asn) c.13898C>A (p.Thr4633Asn) c.13499C>A (p.Thr4500Asn) c.13487C>A (p.Thr4496Asn) c.13445C>A (p.Thr4482Asn) c.13421C>A (p.Thr4474Asn) c.13391C>A (p.Thr4464Asn) c.13568C>A (p.Thr4523Asn) c.13418C>A (p.Thr4473Asn) c.10118C>A (p.Thr3373Asn) | |
| 8 | g.143916350_143916361del | CA372474313 | PLEC | c.13593_13604del (p.Gly4532_Thr4535del) c.13512_13523del (p.Gly4505_Thr4508del) c.13179_13190del (p.Gly4394_Thr4397del) c.13392_13403del (p.Gly4465_Thr4468del) c.13461_13472del (p.Gly4488_Thr4491del) c.10161_10172del (p.Gly3388_Thr3391del) c.13872_13883del (p.Gly4625_Thr4628del) c.13395_13406del (p.Gly4466_Thr4469del) c.13419_13430del (p.Gly4474_Thr4477del) c.13473_13484del (p.Gly4492_Thr4495del) c.13365_13376del (p.Gly4456_Thr4459del) c.13542_13553del (p.Gly4515_Thr4518del) c.13530_13541del (p.Gly4511_Thr4514del) c.13887_13898del (p.Gly4630_Thr4633del) c.13488_13499del (p.Gly4497_Thr4500del) c.13476_13487del (p.Gly4493_Thr4496del) c.13434_13445del (p.Gly4479_Thr4482del) c.13410_13421del (p.Gly4471_Thr4474del) c.13380_13391del (p.Gly4461_Thr4464del) c.13557_13568del (p.Gly4520_Thr4523del) c.13407_13418del (p.Gly4470_Thr4473del) c.10107_10118del (p.Gly3370_Thr3373del) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143916350T>A | CA372474316 | PLEC | c.13603A>T (p.Thr4535Ser) c.13522A>T (p.Thr4508Ser) c.13189A>T (p.Thr4397Ser) c.13402A>T (p.Thr4468Ser) c.13471A>T (p.Thr4491Ser) c.10171A>T (p.Thr3391Ser) c.13882A>T (p.Thr4628Ser) c.13405A>T (p.Thr4469Ser) c.13429A>T (p.Thr4477Ser) c.13483A>T (p.Thr4495Ser) c.13375A>T (p.Thr4459Ser) c.13552A>T (p.Thr4518Ser) c.13540A>T (p.Thr4514Ser) c.13897A>T (p.Thr4633Ser) c.13498A>T (p.Thr4500Ser) c.13486A>T (p.Thr4496Ser) c.13444A>T (p.Thr4482Ser) c.13420A>T (p.Thr4474Ser) c.13390A>T (p.Thr4464Ser) c.13567A>T (p.Thr4523Ser) c.13417A>T (p.Thr4473Ser) c.10117A>T (p.Thr3373Ser) | ClinVar gnomAD v4 |
| 8 | g.143916350T>C | CA4923795 | PLEC | c.13603A>G (p.Thr4535Ala) c.13522A>G (p.Thr4508Ala) c.13189A>G (p.Thr4397Ala) c.13402A>G (p.Thr4468Ala) c.13471A>G (p.Thr4491Ala) c.10171A>G (p.Thr3391Ala) c.13882A>G (p.Thr4628Ala) c.13405A>G (p.Thr4469Ala) c.13429A>G (p.Thr4477Ala) c.13483A>G (p.Thr4495Ala) c.13375A>G (p.Thr4459Ala) c.13552A>G (p.Thr4518Ala) c.13540A>G (p.Thr4514Ala) c.13897A>G (p.Thr4633Ala) c.13498A>G (p.Thr4500Ala) c.13486A>G (p.Thr4496Ala) c.13444A>G (p.Thr4482Ala) c.13420A>G (p.Thr4474Ala) c.13390A>G (p.Thr4464Ala) c.13567A>G (p.Thr4523Ala) c.13417A>G (p.Thr4473Ala) c.10117A>G (p.Thr3373Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916350T>G | CA372474321 | PLEC | c.13603A>C (p.Thr4535Pro) c.13522A>C (p.Thr4508Pro) c.13189A>C (p.Thr4397Pro) c.13402A>C (p.Thr4468Pro) c.13471A>C (p.Thr4491Pro) c.10171A>C (p.Thr3391Pro) c.13882A>C (p.Thr4628Pro) c.13405A>C (p.Thr4469Pro) c.13429A>C (p.Thr4477Pro) c.13483A>C (p.Thr4495Pro) c.13375A>C (p.Thr4459Pro) c.13552A>C (p.Thr4518Pro) c.13540A>C (p.Thr4514Pro) c.13897A>C (p.Thr4633Pro) c.13498A>C (p.Thr4500Pro) c.13486A>C (p.Thr4496Pro) c.13444A>C (p.Thr4482Pro) c.13420A>C (p.Thr4474Pro) c.13390A>C (p.Thr4464Pro) c.13567A>C (p.Thr4523Pro) c.13417A>C (p.Thr4473Pro) c.10117A>C (p.Thr3373Pro) | |
| 8 | g.143916350T= | CA1826036998 | PLEC | c.13603A= (p.Thr4535=) c.13522A= (p.Thr4508=) c.13189A= (p.Thr4397=) c.13402A= (p.Thr4468=) c.13471A= (p.Thr4491=) c.10171A= (p.Thr3391=) c.13882A= (p.Thr4628=) c.13405A= (p.Thr4469=) c.13429A= (p.Thr4477=) c.13483A= (p.Thr4495=) c.13375A= (p.Thr4459=) c.13552A= (p.Thr4518=) c.13540A= (p.Thr4514=) c.13897A= (p.Thr4633=) c.13498A= (p.Thr4500=) c.13486A= (p.Thr4496=) c.13444A= (p.Thr4482=) c.13420A= (p.Thr4474=) c.13390A= (p.Thr4464=) c.13567A= (p.Thr4523=) c.13417A= (p.Thr4473=) c.10117A= (p.Thr3373=) | |
| 8 | g.143916351G>A | CA4923796 | PLEC | c.13602C>T (p.Arg4534=) c.13521C>T (p.Arg4507=) c.13188C>T (p.Arg4396=) c.13401C>T (p.Arg4467=) c.13470C>T (p.Arg4490=) c.10170C>T (p.Arg3390=) c.13881C>T (p.Arg4627=) c.13404C>T (p.Arg4468=) c.13428C>T (p.Arg4476=) c.13482C>T (p.Arg4494=) c.13374C>T (p.Arg4458=) c.13551C>T (p.Arg4517=) c.13539C>T (p.Arg4513=) c.13896C>T (p.Arg4632=) c.13497C>T (p.Arg4499=) c.13485C>T (p.Arg4495=) c.13443C>T (p.Arg4481=) c.13419C>T (p.Arg4473=) c.13389C>T (p.Arg4463=) c.13566C>T (p.Arg4522=) c.13416C>T (p.Arg4472=) c.10116C>T (p.Arg3372=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916351G>C | CA463526212 | PLEC | c.13602C>G (p.Arg4534=) c.13521C>G (p.Arg4507=) c.13188C>G (p.Arg4396=) c.13401C>G (p.Arg4467=) c.13470C>G (p.Arg4490=) c.10170C>G (p.Arg3390=) c.13881C>G (p.Arg4627=) c.13404C>G (p.Arg4468=) c.13428C>G (p.Arg4476=) c.13482C>G (p.Arg4494=) c.13374C>G (p.Arg4458=) c.13551C>G (p.Arg4517=) c.13539C>G (p.Arg4513=) c.13896C>G (p.Arg4632=) c.13497C>G (p.Arg4499=) c.13485C>G (p.Arg4495=) c.13443C>G (p.Arg4481=) c.13419C>G (p.Arg4473=) c.13389C>G (p.Arg4463=) c.13566C>G (p.Arg4522=) c.13416C>G (p.Arg4472=) c.10116C>G (p.Arg3372=) | |
| 8 | g.143916351G= | CA1826037004 | PLEC | c.13602C= (p.Arg4534=) c.13521C= (p.Arg4507=) c.13188C= (p.Arg4396=) c.13401C= (p.Arg4467=) c.13470C= (p.Arg4490=) c.10170C= (p.Arg3390=) c.13881C= (p.Arg4627=) c.13404C= (p.Arg4468=) c.13428C= (p.Arg4476=) c.13482C= (p.Arg4494=) c.13374C= (p.Arg4458=) c.13551C= (p.Arg4517=) c.13539C= (p.Arg4513=) c.13896C= (p.Arg4632=) c.13497C= (p.Arg4499=) c.13485C= (p.Arg4495=) c.13443C= (p.Arg4481=) c.13419C= (p.Arg4473=) c.13389C= (p.Arg4463=) c.13566C= (p.Arg4522=) c.13416C= (p.Arg4472=) c.10116C= (p.Arg3372=) | |
| 8 | g.143916351G>T | CA463526210 | PLEC | c.13602C>A (p.Arg4534=) c.13521C>A (p.Arg4507=) c.13188C>A (p.Arg4396=) c.13401C>A (p.Arg4467=) c.13470C>A (p.Arg4490=) c.10170C>A (p.Arg3390=) c.13881C>A (p.Arg4627=) c.13404C>A (p.Arg4468=) c.13428C>A (p.Arg4476=) c.13482C>A (p.Arg4494=) c.13374C>A (p.Arg4458=) c.13551C>A (p.Arg4517=) c.13539C>A (p.Arg4513=) c.13896C>A (p.Arg4632=) c.13497C>A (p.Arg4499=) c.13485C>A (p.Arg4495=) c.13443C>A (p.Arg4481=) c.13419C>A (p.Arg4473=) c.13389C>A (p.Arg4463=) c.13566C>A (p.Arg4522=) c.13416C>A (p.Arg4472=) c.10116C>A (p.Arg3372=) | |
| 8 | g.143916359_143916360insGGCGCGGGAGCC | CA1826037003 | PLEC | c.13602_13603insGCCGGCTCCCGC (p.Arg4534_Thr4535insAlaGlySerArg) c.13521_13522insGCCGGCTCCCGC (p.Arg4507_Thr4508insAlaGlySerArg) c.13188_13189insGCCGGCTCCCGC (p.Arg4396_Thr4397insAlaGlySerArg) c.13401_13402insGCCGGCTCCCGC (p.Arg4467_Thr4468insAlaGlySerArg) c.13470_13471insGCCGGCTCCCGC (p.Arg4490_Thr4491insAlaGlySerArg) c.10170_10171insGCCGGCTCCCGC (p.Arg3390_Thr3391insAlaGlySerArg) c.13881_13882insGCCGGCTCCCGC (p.Arg4627_Thr4628insAlaGlySerArg) c.13404_13405insGCCGGCTCCCGC (p.Arg4468_Thr4469insAlaGlySerArg) c.13428_13429insGCCGGCTCCCGC (p.Arg4476_Thr4477insAlaGlySerArg) c.13482_13483insGCCGGCTCCCGC (p.Arg4494_Thr4495insAlaGlySerArg) c.13374_13375insGCCGGCTCCCGC (p.Arg4458_Thr4459insAlaGlySerArg) c.13551_13552insGCCGGCTCCCGC (p.Arg4517_Thr4518insAlaGlySerArg) c.13539_13540insGCCGGCTCCCGC (p.Arg4513_Thr4514insAlaGlySerArg) c.13896_13897insGCCGGCTCCCGC (p.Arg4632_Thr4633insAlaGlySerArg) c.13497_13498insGCCGGCTCCCGC (p.Arg4499_Thr4500insAlaGlySerArg) c.13485_13486insGCCGGCTCCCGC (p.Arg4495_Thr4496insAlaGlySerArg) c.13443_13444insGCCGGCTCCCGC (p.Arg4481_Thr4482insAlaGlySerArg) c.13419_13420insGCCGGCTCCCGC (p.Arg4473_Thr4474insAlaGlySerArg) c.13389_13390insGCCGGCTCCCGC (p.Arg4463_Thr4464insAlaGlySerArg) c.13566_13567insGCCGGCTCCCGC (p.Arg4522_Thr4523insAlaGlySerArg) c.13416_13417insGCCGGCTCCCGC (p.Arg4472_Thr4473insAlaGlySerArg) c.10116_10117insGCCGGCTCCCGC (p.Arg3372_Thr3373insAlaGlySerArg) | dbSNP |
| 8 | g.143916352C>A | CA372474328 | PLEC | c.13601G>T (p.Arg4534Leu) c.13520G>T (p.Arg4507Leu) c.13187G>T (p.Arg4396Leu) c.13400G>T (p.Arg4467Leu) c.13469G>T (p.Arg4490Leu) c.10169G>T (p.Arg3390Leu) c.13880G>T (p.Arg4627Leu) c.13403G>T (p.Arg4468Leu) c.13427G>T (p.Arg4476Leu) c.13481G>T (p.Arg4494Leu) c.13373G>T (p.Arg4458Leu) c.13550G>T (p.Arg4517Leu) c.13538G>T (p.Arg4513Leu) c.13895G>T (p.Arg4632Leu) c.13496G>T (p.Arg4499Leu) c.13484G>T (p.Arg4495Leu) c.13442G>T (p.Arg4481Leu) c.13418G>T (p.Arg4473Leu) c.13388G>T (p.Arg4463Leu) c.13565G>T (p.Arg4522Leu) c.13415G>T (p.Arg4472Leu) c.10115G>T (p.Arg3372Leu) | dbSNP gnomAD v4 |
| 8 | g.143916352C= | CA1826037006 | PLEC | c.13601G= (p.Arg4534=) c.13520G= (p.Arg4507=) c.13187G= (p.Arg4396=) c.13400G= (p.Arg4467=) c.13469G= (p.Arg4490=) c.10169G= (p.Arg3390=) c.13880G= (p.Arg4627=) c.13403G= (p.Arg4468=) c.13427G= (p.Arg4476=) c.13481G= (p.Arg4494=) c.13373G= (p.Arg4458=) c.13550G= (p.Arg4517=) c.13538G= (p.Arg4513=) c.13895G= (p.Arg4632=) c.13496G= (p.Arg4499=) c.13484G= (p.Arg4495=) c.13442G= (p.Arg4481=) c.13418G= (p.Arg4473=) c.13388G= (p.Arg4463=) c.13565G= (p.Arg4522=) c.13415G= (p.Arg4472=) c.10115G= (p.Arg3372=) | |
| 8 | g.143916352C>G | CA372474331 | PLEC | c.13601G>C (p.Arg4534Pro) c.13520G>C (p.Arg4507Pro) c.13187G>C (p.Arg4396Pro) c.13400G>C (p.Arg4467Pro) c.13469G>C (p.Arg4490Pro) c.10169G>C (p.Arg3390Pro) c.13880G>C (p.Arg4627Pro) c.13403G>C (p.Arg4468Pro) c.13427G>C (p.Arg4476Pro) c.13481G>C (p.Arg4494Pro) c.13373G>C (p.Arg4458Pro) c.13550G>C (p.Arg4517Pro) c.13538G>C (p.Arg4513Pro) c.13895G>C (p.Arg4632Pro) c.13496G>C (p.Arg4499Pro) c.13484G>C (p.Arg4495Pro) c.13442G>C (p.Arg4481Pro) c.13418G>C (p.Arg4473Pro) c.13388G>C (p.Arg4463Pro) c.13565G>C (p.Arg4522Pro) c.13415G>C (p.Arg4472Pro) c.10115G>C (p.Arg3372Pro) | |
| 8 | g.143916352C>T | CA4923797 | PLEC | c.13601G>A (p.Arg4534His) c.13520G>A (p.Arg4507His) c.13187G>A (p.Arg4396His) c.13400G>A (p.Arg4467His) c.13469G>A (p.Arg4490His) c.10169G>A (p.Arg3390His) c.13880G>A (p.Arg4627His) c.13403G>A (p.Arg4468His) c.13427G>A (p.Arg4476His) c.13481G>A (p.Arg4494His) c.13373G>A (p.Arg4458His) c.13550G>A (p.Arg4517His) c.13538G>A (p.Arg4513His) c.13895G>A (p.Arg4632His) c.13496G>A (p.Arg4499His) c.13484G>A (p.Arg4495His) c.13442G>A (p.Arg4481His) c.13418G>A (p.Arg4473His) c.13388G>A (p.Arg4463His) c.13565G>A (p.Arg4522His) c.13415G>A (p.Arg4472His) c.10115G>A (p.Arg3372His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916353G>A | CA4923799 | PLEC | c.13600C>T (p.Arg4534Cys) c.13519C>T (p.Arg4507Cys) c.13186C>T (p.Arg4396Cys) c.13399C>T (p.Arg4467Cys) c.13468C>T (p.Arg4490Cys) c.10168C>T (p.Arg3390Cys) c.13879C>T (p.Arg4627Cys) c.13402C>T (p.Arg4468Cys) c.13426C>T (p.Arg4476Cys) c.13480C>T (p.Arg4494Cys) c.13372C>T (p.Arg4458Cys) c.13549C>T (p.Arg4517Cys) c.13537C>T (p.Arg4513Cys) c.13894C>T (p.Arg4632Cys) c.13495C>T (p.Arg4499Cys) c.13483C>T (p.Arg4495Cys) c.13441C>T (p.Arg4481Cys) c.13417C>T (p.Arg4473Cys) c.13387C>T (p.Arg4463Cys) c.13564C>T (p.Arg4522Cys) c.13414C>T (p.Arg4472Cys) c.10114C>T (p.Arg3372Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916353G>C | CA372474337 | PLEC | c.13600C>G (p.Arg4534Gly) c.13519C>G (p.Arg4507Gly) c.13186C>G (p.Arg4396Gly) c.13399C>G (p.Arg4467Gly) c.13468C>G (p.Arg4490Gly) c.10168C>G (p.Arg3390Gly) c.13879C>G (p.Arg4627Gly) c.13402C>G (p.Arg4468Gly) c.13426C>G (p.Arg4476Gly) c.13480C>G (p.Arg4494Gly) c.13372C>G (p.Arg4458Gly) c.13549C>G (p.Arg4517Gly) c.13537C>G (p.Arg4513Gly) c.13894C>G (p.Arg4632Gly) c.13495C>G (p.Arg4499Gly) c.13483C>G (p.Arg4495Gly) c.13441C>G (p.Arg4481Gly) c.13417C>G (p.Arg4473Gly) c.13387C>G (p.Arg4463Gly) c.13564C>G (p.Arg4522Gly) c.13414C>G (p.Arg4472Gly) c.10114C>G (p.Arg3372Gly) | |
| 8 | g.143916353G= | CA1826037010 | PLEC | c.13600C= (p.Arg4534=) c.13519C= (p.Arg4507=) c.13186C= (p.Arg4396=) c.13399C= (p.Arg4467=) c.13468C= (p.Arg4490=) c.10168C= (p.Arg3390=) c.13879C= (p.Arg4627=) c.13402C= (p.Arg4468=) c.13426C= (p.Arg4476=) c.13480C= (p.Arg4494=) c.13372C= (p.Arg4458=) c.13549C= (p.Arg4517=) c.13537C= (p.Arg4513=) c.13894C= (p.Arg4632=) c.13495C= (p.Arg4499=) c.13483C= (p.Arg4495=) c.13441C= (p.Arg4481=) c.13417C= (p.Arg4473=) c.13387C= (p.Arg4463=) c.13564C= (p.Arg4522=) c.13414C= (p.Arg4472=) c.10114C= (p.Arg3372=) | |
| 8 | g.143916353G>T | CA4923798 | PLEC | c.13600C>A (p.Arg4534Ser) c.13519C>A (p.Arg4507Ser) c.13186C>A (p.Arg4396Ser) c.13399C>A (p.Arg4467Ser) c.13468C>A (p.Arg4490Ser) c.10168C>A (p.Arg3390Ser) c.13879C>A (p.Arg4627Ser) c.13402C>A (p.Arg4468Ser) c.13426C>A (p.Arg4476Ser) c.13480C>A (p.Arg4494Ser) c.13372C>A (p.Arg4458Ser) c.13549C>A (p.Arg4517Ser) c.13537C>A (p.Arg4513Ser) c.13894C>A (p.Arg4632Ser) c.13495C>A (p.Arg4499Ser) c.13483C>A (p.Arg4495Ser) c.13441C>A (p.Arg4481Ser) c.13417C>A (p.Arg4473Ser) c.13387C>A (p.Arg4463Ser) c.13564C>A (p.Arg4522Ser) c.13414C>A (p.Arg4472Ser) c.10114C>A (p.Arg3372Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916354G>A | CA463526223 | PLEC | c.13599C>T (p.Ser4533=) c.13518C>T (p.Ser4506=) c.13185C>T (p.Ser4395=) c.13398C>T (p.Ser4466=) c.13467C>T (p.Ser4489=) c.10167C>T (p.Ser3389=) c.13878C>T (p.Ser4626=) c.13401C>T (p.Ser4467=) c.13425C>T (p.Ser4475=) c.13479C>T (p.Ser4493=) c.13371C>T (p.Ser4457=) c.13548C>T (p.Ser4516=) c.13536C>T (p.Ser4512=) c.13893C>T (p.Ser4631=) c.13494C>T (p.Ser4498=) c.13482C>T (p.Ser4494=) c.13440C>T (p.Ser4480=) c.13416C>T (p.Ser4472=) c.13386C>T (p.Ser4462=) c.13563C>T (p.Ser4521=) c.13413C>T (p.Ser4471=) c.10113C>T (p.Ser3371=) | |
| 8 | g.143916354G>C | CA463526224 | PLEC | c.13599C>G (p.Ser4533=) c.13518C>G (p.Ser4506=) c.13185C>G (p.Ser4395=) c.13398C>G (p.Ser4466=) c.13467C>G (p.Ser4489=) c.10167C>G (p.Ser3389=) c.13878C>G (p.Ser4626=) c.13401C>G (p.Ser4467=) c.13425C>G (p.Ser4475=) c.13479C>G (p.Ser4493=) c.13371C>G (p.Ser4457=) c.13548C>G (p.Ser4516=) c.13536C>G (p.Ser4512=) c.13893C>G (p.Ser4631=) c.13494C>G (p.Ser4498=) c.13482C>G (p.Ser4494=) c.13440C>G (p.Ser4480=) c.13416C>G (p.Ser4472=) c.13386C>G (p.Ser4462=) c.13563C>G (p.Ser4521=) c.13413C>G (p.Ser4471=) c.10113C>G (p.Ser3371=) | |
| 8 | g.143916354G>T | CA463526225 | PLEC | c.13599C>A (p.Ser4533=) c.13518C>A (p.Ser4506=) c.13185C>A (p.Ser4395=) c.13398C>A (p.Ser4466=) c.13467C>A (p.Ser4489=) c.10167C>A (p.Ser3389=) c.13878C>A (p.Ser4626=) c.13401C>A (p.Ser4467=) c.13425C>A (p.Ser4475=) c.13479C>A (p.Ser4493=) c.13371C>A (p.Ser4457=) c.13548C>A (p.Ser4516=) c.13536C>A (p.Ser4512=) c.13893C>A (p.Ser4631=) c.13494C>A (p.Ser4498=) c.13482C>A (p.Ser4494=) c.13440C>A (p.Ser4480=) c.13416C>A (p.Ser4472=) c.13386C>A (p.Ser4462=) c.13563C>A (p.Ser4521=) c.13413C>A (p.Ser4471=) c.10113C>A (p.Ser3371=) | |
| 8 | g.143916354_143916366delinsGGAGCCAGCGGTA | CA1826037013 | PLEC | c.13587_13599delinsTACCGCTGGCTCC (p.Ser4529=) c.13506_13518delinsTACCGCTGGCTCC (p.Ser4502=) c.13173_13185delinsTACCGCTGGCTCC (p.Ser4391=) c.13386_13398delinsTACCGCTGGCTCC (p.Ser4462=) c.13455_13467delinsTACCGCTGGCTCC (p.Ser4485=) c.10155_10167delinsTACCGCTGGCTCC (p.Ser3385=) c.13866_13878delinsTACCGCTGGCTCC (p.Ser4622=) c.13389_13401delinsTACCGCTGGCTCC (p.Ser4463=) c.13413_13425delinsTACCGCTGGCTCC (p.Ser4471=) c.13467_13479delinsTACCGCTGGCTCC (p.Ser4489=) c.13359_13371delinsTACCGCTGGCTCC (p.Ser4453=) c.13536_13548delinsTACCGCTGGCTCC (p.Ser4512=) c.13524_13536delinsTACCGCTGGCTCC (p.Ser4508=) c.13881_13893delinsTACCGCTGGCTCC (p.Ser4627=) c.13482_13494delinsTACCGCTGGCTCC (p.Ser4494=) c.13470_13482delinsTACCGCTGGCTCC (p.Ser4490=) c.13428_13440delinsTACCGCTGGCTCC (p.Ser4476=) c.13404_13416delinsTACCGCTGGCTCC (p.Ser4468=) c.13374_13386delinsTACCGCTGGCTCC (p.Ser4458=) c.13551_13563delinsTACCGCTGGCTCC (p.Ser4517=) c.13401_13413delinsTACCGCTGGCTCC (p.Ser4467=) c.10101_10113delinsTACCGCTGGCTCC (p.Ser3367=) | |
| 8 | g.143916355G>A | CA372474339 | PLEC | c.13598C>T (p.Ser4533Phe) c.13517C>T (p.Ser4506Phe) c.13184C>T (p.Ser4395Phe) c.13397C>T (p.Ser4466Phe) c.13466C>T (p.Ser4489Phe) c.10166C>T (p.Ser3389Phe) c.13877C>T (p.Ser4626Phe) c.13400C>T (p.Ser4467Phe) c.13424C>T (p.Ser4475Phe) c.13478C>T (p.Ser4493Phe) c.13370C>T (p.Ser4457Phe) c.13547C>T (p.Ser4516Phe) c.13535C>T (p.Ser4512Phe) c.13892C>T (p.Ser4631Phe) c.13493C>T (p.Ser4498Phe) c.13481C>T (p.Ser4494Phe) c.13439C>T (p.Ser4480Phe) c.13415C>T (p.Ser4472Phe) c.13385C>T (p.Ser4462Phe) c.13562C>T (p.Ser4521Phe) c.13412C>T (p.Ser4471Phe) c.10112C>T (p.Ser3371Phe) | |
| 8 | g.143916355G>C | CA372474340 | PLEC | c.13598C>G (p.Ser4533Cys) c.13517C>G (p.Ser4506Cys) c.13184C>G (p.Ser4395Cys) c.13397C>G (p.Ser4466Cys) c.13466C>G (p.Ser4489Cys) c.10166C>G (p.Ser3389Cys) c.13877C>G (p.Ser4626Cys) c.13400C>G (p.Ser4467Cys) c.13424C>G (p.Ser4475Cys) c.13478C>G (p.Ser4493Cys) c.13370C>G (p.Ser4457Cys) c.13547C>G (p.Ser4516Cys) c.13535C>G (p.Ser4512Cys) c.13892C>G (p.Ser4631Cys) c.13493C>G (p.Ser4498Cys) c.13481C>G (p.Ser4494Cys) c.13439C>G (p.Ser4480Cys) c.13415C>G (p.Ser4472Cys) c.13385C>G (p.Ser4462Cys) c.13562C>G (p.Ser4521Cys) c.13412C>G (p.Ser4471Cys) c.10112C>G (p.Ser3371Cys) | |
| 8 | g.143916355G>T | CA372474341 | PLEC | c.13598C>A (p.Ser4533Tyr) c.13517C>A (p.Ser4506Tyr) c.13184C>A (p.Ser4395Tyr) c.13397C>A (p.Ser4466Tyr) c.13466C>A (p.Ser4489Tyr) c.10166C>A (p.Ser3389Tyr) c.13877C>A (p.Ser4626Tyr) c.13400C>A (p.Ser4467Tyr) c.13424C>A (p.Ser4475Tyr) c.13478C>A (p.Ser4493Tyr) c.13370C>A (p.Ser4457Tyr) c.13547C>A (p.Ser4516Tyr) c.13535C>A (p.Ser4512Tyr) c.13892C>A (p.Ser4631Tyr) c.13493C>A (p.Ser4498Tyr) c.13481C>A (p.Ser4494Tyr) c.13439C>A (p.Ser4480Tyr) c.13415C>A (p.Ser4472Tyr) c.13385C>A (p.Ser4462Tyr) c.13562C>A (p.Ser4521Tyr) c.13412C>A (p.Ser4471Tyr) c.10112C>A (p.Ser3371Tyr) | |
| 8 | g.143916360_143916371del | CA848820080 | PLEC | c.13587_13598del (p.Thr4530_Ser4533del) c.13506_13517del (p.Thr4503_Ser4506del) c.13173_13184del (p.Thr4392_Ser4395del) c.13386_13397del (p.Thr4463_Ser4466del) c.13455_13466del (p.Thr4486_Ser4489del) c.10155_10166del (p.Thr3386_Ser3389del) c.13866_13877del (p.Thr4623_Ser4626del) c.13389_13400del (p.Thr4464_Ser4467del) c.13413_13424del (p.Thr4472_Ser4475del) c.13467_13478del (p.Thr4490_Ser4493del) c.13359_13370del (p.Thr4454_Ser4457del) c.13536_13547del (p.Thr4513_Ser4516del) c.13524_13535del (p.Thr4509_Ser4512del) c.13881_13892del (p.Thr4628_Ser4631del) c.13482_13493del (p.Thr4495_Ser4498del) c.13470_13481del (p.Thr4491_Ser4494del) c.13428_13439del (p.Thr4477_Ser4480del) c.13404_13415del (p.Thr4469_Ser4472del) c.13374_13385del (p.Thr4459_Ser4462del) c.13551_13562del (p.Thr4518_Ser4521del) c.13401_13412del (p.Thr4468_Ser4471del) c.10101_10112del (p.Thr3368_Ser3371del) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143916356A= | CA1826037015 | PLEC | c.13597T= (p.Ser4533=) c.13516T= (p.Ser4506=) c.13183T= (p.Ser4395=) c.13396T= (p.Ser4466=) c.13465T= (p.Ser4489=) c.10165T= (p.Ser3389=) c.13876T= (p.Ser4626=) c.13399T= (p.Ser4467=) c.13423T= (p.Ser4475=) c.13477T= (p.Ser4493=) c.13369T= (p.Ser4457=) c.13546T= (p.Ser4516=) c.13534T= (p.Ser4512=) c.13891T= (p.Ser4631=) c.13492T= (p.Ser4498=) c.13480T= (p.Ser4494=) c.13438T= (p.Ser4480=) c.13414T= (p.Ser4472=) c.13384T= (p.Ser4462=) c.13561T= (p.Ser4521=) c.13411T= (p.Ser4471=) c.10111T= (p.Ser3371=) | |
| 8 | g.143916356A>C | CA372474343 | PLEC | c.13597T>G (p.Ser4533Ala) c.13516T>G (p.Ser4506Ala) c.13183T>G (p.Ser4395Ala) c.13396T>G (p.Ser4466Ala) c.13465T>G (p.Ser4489Ala) c.10165T>G (p.Ser3389Ala) c.13876T>G (p.Ser4626Ala) c.13399T>G (p.Ser4467Ala) c.13423T>G (p.Ser4475Ala) c.13477T>G (p.Ser4493Ala) c.13369T>G (p.Ser4457Ala) c.13546T>G (p.Ser4516Ala) c.13534T>G (p.Ser4512Ala) c.13891T>G (p.Ser4631Ala) c.13492T>G (p.Ser4498Ala) c.13480T>G (p.Ser4494Ala) c.13438T>G (p.Ser4480Ala) c.13414T>G (p.Ser4472Ala) c.13384T>G (p.Ser4462Ala) c.13561T>G (p.Ser4521Ala) c.13411T>G (p.Ser4471Ala) c.10111T>G (p.Ser3371Ala) | dbSNP gnomAD v4 |
| 8 | g.143916356A>G | CA372474345 | PLEC | c.13597T>C (p.Ser4533Pro) c.13516T>C (p.Ser4506Pro) c.13183T>C (p.Ser4395Pro) c.13396T>C (p.Ser4466Pro) c.13465T>C (p.Ser4489Pro) c.10165T>C (p.Ser3389Pro) c.13876T>C (p.Ser4626Pro) c.13399T>C (p.Ser4467Pro) c.13423T>C (p.Ser4475Pro) c.13477T>C (p.Ser4493Pro) c.13369T>C (p.Ser4457Pro) c.13546T>C (p.Ser4516Pro) c.13534T>C (p.Ser4512Pro) c.13891T>C (p.Ser4631Pro) c.13492T>C (p.Ser4498Pro) c.13480T>C (p.Ser4494Pro) c.13438T>C (p.Ser4480Pro) c.13414T>C (p.Ser4472Pro) c.13384T>C (p.Ser4462Pro) c.13561T>C (p.Ser4521Pro) c.13411T>C (p.Ser4471Pro) c.10111T>C (p.Ser3371Pro) | |
| 8 | g.143916356A>T | CA372474347 | PLEC | c.13597T>A (p.Ser4533Thr) c.13516T>A (p.Ser4506Thr) c.13183T>A (p.Ser4395Thr) c.13396T>A (p.Ser4466Thr) c.13465T>A (p.Ser4489Thr) c.10165T>A (p.Ser3389Thr) c.13876T>A (p.Ser4626Thr) c.13399T>A (p.Ser4467Thr) c.13423T>A (p.Ser4475Thr) c.13477T>A (p.Ser4493Thr) c.13369T>A (p.Ser4457Thr) c.13546T>A (p.Ser4516Thr) c.13534T>A (p.Ser4512Thr) c.13891T>A (p.Ser4631Thr) c.13492T>A (p.Ser4498Thr) c.13480T>A (p.Ser4494Thr) c.13438T>A (p.Ser4480Thr) c.13414T>A (p.Ser4472Thr) c.13384T>A (p.Ser4462Thr) c.13561T>A (p.Ser4521Thr) c.13411T>A (p.Ser4471Thr) c.10111T>A (p.Ser3371Thr) | |
| 8 | g.143916357G>A | CA463526238 | PLEC | c.13596C>T (p.Gly4532=) c.13515C>T (p.Gly4505=) c.13182C>T (p.Gly4394=) c.13395C>T (p.Gly4465=) c.13464C>T (p.Gly4488=) c.10164C>T (p.Gly3388=) c.13875C>T (p.Gly4625=) c.13398C>T (p.Gly4466=) c.13422C>T (p.Gly4474=) c.13476C>T (p.Gly4492=) c.13368C>T (p.Gly4456=) c.13545C>T (p.Gly4515=) c.13533C>T (p.Gly4511=) c.13890C>T (p.Gly4630=) c.13491C>T (p.Gly4497=) c.13479C>T (p.Gly4493=) c.13437C>T (p.Gly4479=) c.13413C>T (p.Gly4471=) c.13383C>T (p.Gly4461=) c.13560C>T (p.Gly4520=) c.13410C>T (p.Gly4470=) c.10110C>T (p.Gly3370=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916357G>C | CA463526239 | PLEC | c.13596C>G (p.Gly4532=) c.13515C>G (p.Gly4505=) c.13182C>G (p.Gly4394=) c.13395C>G (p.Gly4465=) c.13464C>G (p.Gly4488=) c.10164C>G (p.Gly3388=) c.13875C>G (p.Gly4625=) c.13398C>G (p.Gly4466=) c.13422C>G (p.Gly4474=) c.13476C>G (p.Gly4492=) c.13368C>G (p.Gly4456=) c.13545C>G (p.Gly4515=) c.13533C>G (p.Gly4511=) c.13890C>G (p.Gly4630=) c.13491C>G (p.Gly4497=) c.13479C>G (p.Gly4493=) c.13437C>G (p.Gly4479=) c.13413C>G (p.Gly4471=) c.13383C>G (p.Gly4461=) c.13560C>G (p.Gly4520=) c.13410C>G (p.Gly4470=) c.10110C>G (p.Gly3370=) | |
| 8 | g.143916357G= | CA1826037017 | PLEC | c.13596C= (p.Gly4532=) c.13515C= (p.Gly4505=) c.13182C= (p.Gly4394=) c.13395C= (p.Gly4465=) c.13464C= (p.Gly4488=) c.10164C= (p.Gly3388=) c.13875C= (p.Gly4625=) c.13398C= (p.Gly4466=) c.13422C= (p.Gly4474=) c.13476C= (p.Gly4492=) c.13368C= (p.Gly4456=) c.13545C= (p.Gly4515=) c.13533C= (p.Gly4511=) c.13890C= (p.Gly4630=) c.13491C= (p.Gly4497=) c.13479C= (p.Gly4493=) c.13437C= (p.Gly4479=) c.13413C= (p.Gly4471=) c.13383C= (p.Gly4461=) c.13560C= (p.Gly4520=) c.13410C= (p.Gly4470=) c.10110C= (p.Gly3370=) | |
| 8 | g.143916357G>T | CA463526240 | PLEC | c.13596C>A (p.Gly4532=) c.13515C>A (p.Gly4505=) c.13182C>A (p.Gly4394=) c.13395C>A (p.Gly4465=) c.13464C>A (p.Gly4488=) c.10164C>A (p.Gly3388=) c.13875C>A (p.Gly4625=) c.13398C>A (p.Gly4466=) c.13422C>A (p.Gly4474=) c.13476C>A (p.Gly4492=) c.13368C>A (p.Gly4456=) c.13545C>A (p.Gly4515=) c.13533C>A (p.Gly4511=) c.13890C>A (p.Gly4630=) c.13491C>A (p.Gly4497=) c.13479C>A (p.Gly4493=) c.13437C>A (p.Gly4479=) c.13413C>A (p.Gly4471=) c.13383C>A (p.Gly4461=) c.13560C>A (p.Gly4520=) c.13410C>A (p.Gly4470=) c.10110C>A (p.Gly3370=) | |
| 8 | g.143916358C>A | CA372474349 | PLEC | c.13595G>T (p.Gly4532Val) c.13514G>T (p.Gly4505Val) c.13181G>T (p.Gly4394Val) c.13394G>T (p.Gly4465Val) c.13463G>T (p.Gly4488Val) c.10163G>T (p.Gly3388Val) c.13874G>T (p.Gly4625Val) c.13397G>T (p.Gly4466Val) c.13421G>T (p.Gly4474Val) c.13475G>T (p.Gly4492Val) c.13367G>T (p.Gly4456Val) c.13544G>T (p.Gly4515Val) c.13532G>T (p.Gly4511Val) c.13889G>T (p.Gly4630Val) c.13490G>T (p.Gly4497Val) c.13478G>T (p.Gly4493Val) c.13436G>T (p.Gly4479Val) c.13412G>T (p.Gly4471Val) c.13382G>T (p.Gly4461Val) c.13559G>T (p.Gly4520Val) c.13409G>T (p.Gly4470Val) c.10109G>T (p.Gly3370Val) | gnomAD v4 |
| 8 | g.143916358C= | CA1826037018 | PLEC | c.13595G= (p.Gly4532=) c.13514G= (p.Gly4505=) c.13181G= (p.Gly4394=) c.13394G= (p.Gly4465=) c.13463G= (p.Gly4488=) c.10163G= (p.Gly3388=) c.13874G= (p.Gly4625=) c.13397G= (p.Gly4466=) c.13421G= (p.Gly4474=) c.13475G= (p.Gly4492=) c.13367G= (p.Gly4456=) c.13544G= (p.Gly4515=) c.13532G= (p.Gly4511=) c.13889G= (p.Gly4630=) c.13490G= (p.Gly4497=) c.13478G= (p.Gly4493=) c.13436G= (p.Gly4479=) c.13412G= (p.Gly4471=) c.13382G= (p.Gly4461=) c.13559G= (p.Gly4520=) c.13409G= (p.Gly4470=) c.10109G= (p.Gly3370=) | |
| 8 | g.143916358C>G | CA372474352 | PLEC | c.13595G>C (p.Gly4532Ala) c.13514G>C (p.Gly4505Ala) c.13181G>C (p.Gly4394Ala) c.13394G>C (p.Gly4465Ala) c.13463G>C (p.Gly4488Ala) c.10163G>C (p.Gly3388Ala) c.13874G>C (p.Gly4625Ala) c.13397G>C (p.Gly4466Ala) c.13421G>C (p.Gly4474Ala) c.13475G>C (p.Gly4492Ala) c.13367G>C (p.Gly4456Ala) c.13544G>C (p.Gly4515Ala) c.13532G>C (p.Gly4511Ala) c.13889G>C (p.Gly4630Ala) c.13490G>C (p.Gly4497Ala) c.13478G>C (p.Gly4493Ala) c.13436G>C (p.Gly4479Ala) c.13412G>C (p.Gly4471Ala) c.13382G>C (p.Gly4461Ala) c.13559G>C (p.Gly4520Ala) c.13409G>C (p.Gly4470Ala) c.10109G>C (p.Gly3370Ala) | |
| 8 | g.143916358C>T | CA372474350 | PLEC | c.13595G>A (p.Gly4532Asp) c.13514G>A (p.Gly4505Asp) c.13181G>A (p.Gly4394Asp) c.13394G>A (p.Gly4465Asp) c.13463G>A (p.Gly4488Asp) c.10163G>A (p.Gly3388Asp) c.13874G>A (p.Gly4625Asp) c.13397G>A (p.Gly4466Asp) c.13421G>A (p.Gly4474Asp) c.13475G>A (p.Gly4492Asp) c.13367G>A (p.Gly4456Asp) c.13544G>A (p.Gly4515Asp) c.13532G>A (p.Gly4511Asp) c.13889G>A (p.Gly4630Asp) c.13490G>A (p.Gly4497Asp) c.13478G>A (p.Gly4493Asp) c.13436G>A (p.Gly4479Asp) c.13412G>A (p.Gly4471Asp) c.13382G>A (p.Gly4461Asp) c.13559G>A (p.Gly4520Asp) c.13409G>A (p.Gly4470Asp) c.10109G>A (p.Gly3370Asp) | dbSNP gnomAD v2 |
| 8 | g.143916359C>A | CA372474353 | PLEC | c.13594G>T (p.Gly4532Cys) c.13513G>T (p.Gly4505Cys) c.13180G>T (p.Gly4394Cys) c.13393G>T (p.Gly4465Cys) c.13462G>T (p.Gly4488Cys) c.10162G>T (p.Gly3388Cys) c.13873G>T (p.Gly4625Cys) c.13396G>T (p.Gly4466Cys) c.13420G>T (p.Gly4474Cys) c.13474G>T (p.Gly4492Cys) c.13366G>T (p.Gly4456Cys) c.13543G>T (p.Gly4515Cys) c.13531G>T (p.Gly4511Cys) c.13888G>T (p.Gly4630Cys) c.13489G>T (p.Gly4497Cys) c.13477G>T (p.Gly4493Cys) c.13435G>T (p.Gly4479Cys) c.13411G>T (p.Gly4471Cys) c.13381G>T (p.Gly4461Cys) c.13558G>T (p.Gly4520Cys) c.13408G>T (p.Gly4470Cys) c.10108G>T (p.Gly3370Cys) | |
| 8 | g.143916359C= | CA1826037020 | PLEC | c.13594G= (p.Gly4532=) c.13513G= (p.Gly4505=) c.13180G= (p.Gly4394=) c.13393G= (p.Gly4465=) c.13462G= (p.Gly4488=) c.10162G= (p.Gly3388=) c.13873G= (p.Gly4625=) c.13396G= (p.Gly4466=) c.13420G= (p.Gly4474=) c.13474G= (p.Gly4492=) c.13366G= (p.Gly4456=) c.13543G= (p.Gly4515=) c.13531G= (p.Gly4511=) c.13888G= (p.Gly4630=) c.13489G= (p.Gly4497=) c.13477G= (p.Gly4493=) c.13435G= (p.Gly4479=) c.13411G= (p.Gly4471=) c.13381G= (p.Gly4461=) c.13558G= (p.Gly4520=) c.13408G= (p.Gly4470=) c.10108G= (p.Gly3370=) | |
| 8 | g.143916359C>G | CA372474354 | PLEC | c.13594G>C (p.Gly4532Arg) c.13513G>C (p.Gly4505Arg) c.13180G>C (p.Gly4394Arg) c.13393G>C (p.Gly4465Arg) c.13462G>C (p.Gly4488Arg) c.10162G>C (p.Gly3388Arg) c.13873G>C (p.Gly4625Arg) c.13396G>C (p.Gly4466Arg) c.13420G>C (p.Gly4474Arg) c.13474G>C (p.Gly4492Arg) c.13366G>C (p.Gly4456Arg) c.13543G>C (p.Gly4515Arg) c.13531G>C (p.Gly4511Arg) c.13888G>C (p.Gly4630Arg) c.13489G>C (p.Gly4497Arg) c.13477G>C (p.Gly4493Arg) c.13435G>C (p.Gly4479Arg) c.13411G>C (p.Gly4471Arg) c.13381G>C (p.Gly4461Arg) c.13558G>C (p.Gly4520Arg) c.13408G>C (p.Gly4470Arg) c.10108G>C (p.Gly3370Arg) | |
| 8 | g.143916359C>T | CA4923800 | PLEC | c.13594G>A (p.Gly4532Ser) c.13513G>A (p.Gly4505Ser) c.13180G>A (p.Gly4394Ser) c.13393G>A (p.Gly4465Ser) c.13462G>A (p.Gly4488Ser) c.10162G>A (p.Gly3388Ser) c.13873G>A (p.Gly4625Ser) c.13396G>A (p.Gly4466Ser) c.13420G>A (p.Gly4474Ser) c.13474G>A (p.Gly4492Ser) c.13366G>A (p.Gly4456Ser) c.13543G>A (p.Gly4515Ser) c.13531G>A (p.Gly4511Ser) c.13888G>A (p.Gly4630Ser) c.13489G>A (p.Gly4497Ser) c.13477G>A (p.Gly4493Ser) c.13435G>A (p.Gly4479Ser) c.13411G>A (p.Gly4471Ser) c.13381G>A (p.Gly4461Ser) c.13558G>A (p.Gly4520Ser) c.13408G>A (p.Gly4470Ser) c.10108G>A (p.Gly3370Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143916359_143916360delinsTG | CA2573142975 | PLEC | c.13593_13594delinsCA (p.Gly4532Ser) c.13512_13513delinsCA (p.Gly4505Ser) c.13179_13180delinsCA (p.Gly4394Ser) c.13392_13393delinsCA (p.Gly4465Ser) c.13461_13462delinsCA (p.Gly4488Ser) c.10161_10162delinsCA (p.Gly3388Ser) c.13872_13873delinsCA (p.Gly4625Ser) c.13395_13396delinsCA (p.Gly4466Ser) c.13419_13420delinsCA (p.Gly4474Ser) c.13473_13474delinsCA (p.Gly4492Ser) c.13365_13366delinsCA (p.Gly4456Ser) c.13542_13543delinsCA (p.Gly4515Ser) c.13530_13531delinsCA (p.Gly4511Ser) c.13887_13888delinsCA (p.Gly4630Ser) c.13488_13489delinsCA (p.Gly4497Ser) c.13476_13477delinsCA (p.Gly4493Ser) c.13434_13435delinsCA (p.Gly4479Ser) c.13410_13411delinsCA (p.Gly4471Ser) c.13380_13381delinsCA (p.Gly4461Ser) c.13557_13558delinsCA (p.Gly4520Ser) c.13407_13408delinsCA (p.Gly4470Ser) c.10107_10108delinsCA (p.Gly3370Ser) | ClinVar |
| 8 | g.143916359_143916360insGGCGGT | CA2689011279 | PLEC | c.13593_13594insACCGCC (p.Ala4531_Gly4532insThrAla) c.13512_13513insACCGCC (p.Ala4504_Gly4505insThrAla) c.13179_13180insACCGCC (p.Ala4393_Gly4394insThrAla) c.13392_13393insACCGCC (p.Ala4464_Gly4465insThrAla) c.13461_13462insACCGCC (p.Ala4487_Gly4488insThrAla) c.10161_10162insACCGCC (p.Ala3387_Gly3388insThrAla) c.13872_13873insACCGCC (p.Ala4624_Gly4625insThrAla) c.13395_13396insACCGCC (p.Ala4465_Gly4466insThrAla) c.13419_13420insACCGCC (p.Ala4473_Gly4474insThrAla) c.13473_13474insACCGCC (p.Ala4491_Gly4492insThrAla) c.13365_13366insACCGCC (p.Ala4455_Gly4456insThrAla) c.13542_13543insACCGCC (p.Ala4514_Gly4515insThrAla) c.13530_13531insACCGCC (p.Ala4510_Gly4511insThrAla) c.13887_13888insACCGCC (p.Ala4629_Gly4630insThrAla) c.13488_13489insACCGCC (p.Ala4496_Gly4497insThrAla) c.13476_13477insACCGCC (p.Ala4492_Gly4493insThrAla) c.13434_13435insACCGCC (p.Ala4478_Gly4479insThrAla) c.13410_13411insACCGCC (p.Ala4470_Gly4471insThrAla) c.13380_13381insACCGCC (p.Ala4460_Gly4461insThrAla) c.13557_13558insACCGCC (p.Ala4519_Gly4520insThrAla) c.13407_13408insACCGCC (p.Ala4469_Gly4470insThrAla) c.10107_10108insACCGCC (p.Ala3369_Gly3370insThrAla) | gnomAD v4 |
| 8 | g.143916359_143916360insGGCCCGGG | CA1120226740 | PLEC | c.13593_13594insCCCGGGCC (p.Gly4532ProfsTer31) c.13512_13513insCCCGGGCC (p.Gly4505ProfsTer31) c.13179_13180insCCCGGGCC (p.Gly4394ProfsTer31) c.13392_13393insCCCGGGCC (p.Gly4465ProfsTer31) c.13461_13462insCCCGGGCC (p.Gly4488ProfsTer31) c.10161_10162insCCCGGGCC (p.Gly3388ProfsTer31) c.13872_13873insCCCGGGCC (p.Gly4625ProfsTer31) c.13395_13396insCCCGGGCC (p.Gly4466ProfsTer31) c.13419_13420insCCCGGGCC (p.Gly4474ProfsTer31) c.13473_13474insCCCGGGCC (p.Gly4492ProfsTer31) c.13365_13366insCCCGGGCC (p.Gly4456ProfsTer31) c.13542_13543insCCCGGGCC (p.Gly4515ProfsTer31) c.13530_13531insCCCGGGCC (p.Gly4511ProfsTer31) c.13887_13888insCCCGGGCC (p.Gly4630ProfsTer31) c.13488_13489insCCCGGGCC (p.Gly4497ProfsTer31) c.13476_13477insCCCGGGCC (p.Gly4493ProfsTer31) c.13434_13435insCCCGGGCC (p.Gly4479ProfsTer31) c.13410_13411insCCCGGGCC (p.Gly4471ProfsTer31) c.13380_13381insCCCGGGCC (p.Gly4461ProfsTer31) c.13557_13558insCCCGGGCC (p.Gly4520ProfsTer31) c.13407_13408insCCCGGGCC (p.Gly4470ProfsTer31) c.10107_10108insCCCGGGCC (p.Gly3370ProfsTer31) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143916359_143916360insGGCGCGGG | CA586158201 | PLEC | c.13593_13594insCCCGCGCC (p.Gly4532ProfsTer31) c.13512_13513insCCCGCGCC (p.Gly4505ProfsTer31) c.13179_13180insCCCGCGCC (p.Gly4394ProfsTer31) c.13392_13393insCCCGCGCC (p.Gly4465ProfsTer31) c.13461_13462insCCCGCGCC (p.Gly4488ProfsTer31) c.10161_10162insCCCGCGCC (p.Gly3388ProfsTer31) c.13872_13873insCCCGCGCC (p.Gly4625ProfsTer31) c.13395_13396insCCCGCGCC (p.Gly4466ProfsTer31) c.13419_13420insCCCGCGCC (p.Gly4474ProfsTer31) c.13473_13474insCCCGCGCC (p.Gly4492ProfsTer31) c.13365_13366insCCCGCGCC (p.Gly4456ProfsTer31) c.13542_13543insCCCGCGCC (p.Gly4515ProfsTer31) c.13530_13531insCCCGCGCC (p.Gly4511ProfsTer31) c.13887_13888insCCCGCGCC (p.Gly4630ProfsTer31) c.13488_13489insCCCGCGCC (p.Gly4497ProfsTer31) c.13476_13477insCCCGCGCC (p.Gly4493ProfsTer31) c.13434_13435insCCCGCGCC (p.Gly4479ProfsTer31) c.13410_13411insCCCGCGCC (p.Gly4471ProfsTer31) c.13380_13381insCCCGCGCC (p.Gly4461ProfsTer31) c.13557_13558insCCCGCGCC (p.Gly4520ProfsTer31) c.13407_13408insCCCGCGCC (p.Gly4470ProfsTer31) c.10107_10108insCCCGCGCC (p.Gly3370ProfsTer31) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143916359_143916360insGGTGCGGG | CA4923801 | PLEC | c.13593_13594insCCCGCACC (p.Gly4532ProfsTer31) c.13512_13513insCCCGCACC (p.Gly4505ProfsTer31) c.13179_13180insCCCGCACC (p.Gly4394ProfsTer31) c.13392_13393insCCCGCACC (p.Gly4465ProfsTer31) c.13461_13462insCCCGCACC (p.Gly4488ProfsTer31) c.10161_10162insCCCGCACC (p.Gly3388ProfsTer31) c.13872_13873insCCCGCACC (p.Gly4625ProfsTer31) c.13395_13396insCCCGCACC (p.Gly4466ProfsTer31) c.13419_13420insCCCGCACC (p.Gly4474ProfsTer31) c.13473_13474insCCCGCACC (p.Gly4492ProfsTer31) c.13365_13366insCCCGCACC (p.Gly4456ProfsTer31) c.13542_13543insCCCGCACC (p.Gly4515ProfsTer31) c.13530_13531insCCCGCACC (p.Gly4511ProfsTer31) c.13887_13888insCCCGCACC (p.Gly4630ProfsTer31) c.13488_13489insCCCGCACC (p.Gly4497ProfsTer31) c.13476_13477insCCCGCACC (p.Gly4493ProfsTer31) c.13434_13435insCCCGCACC (p.Gly4479ProfsTer31) c.13410_13411insCCCGCACC (p.Gly4471ProfsTer31) c.13380_13381insCCCGCACC (p.Gly4461ProfsTer31) c.13557_13558insCCCGCACC (p.Gly4520ProfsTer31) c.13407_13408insCCCGCACC (p.Gly4470ProfsTer31) c.10107_10108insCCCGCACC (p.Gly3370ProfsTer31) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.143916360A= | CA1826037030 | PLEC | c.13593T= (p.Ala4531=) c.13512T= (p.Ala4504=) c.13179T= (p.Ala4393=) c.13392T= (p.Ala4464=) c.13461T= (p.Ala4487=) c.10161T= (p.Ala3387=) c.13872T= (p.Ala4624=) c.13395T= (p.Ala4465=) c.13419T= (p.Ala4473=) c.13473T= (p.Ala4491=) c.13365T= (p.Ala4455=) c.13542T= (p.Ala4514=) c.13530T= (p.Ala4510=) c.13887T= (p.Ala4629=) c.13488T= (p.Ala4496=) c.13476T= (p.Ala4492=) c.13434T= (p.Ala4478=) c.13410T= (p.Ala4470=) c.13380T= (p.Ala4460=) c.13557T= (p.Ala4519=) c.13407T= (p.Ala4469=) c.10107T= (p.Ala3369=) | |
| 8 | g.143916360A>C | CA463526250 | PLEC | c.13593T>G (p.Ala4531=) c.13512T>G (p.Ala4504=) c.13179T>G (p.Ala4393=) c.13392T>G (p.Ala4464=) c.13461T>G (p.Ala4487=) c.10161T>G (p.Ala3387=) c.13872T>G (p.Ala4624=) c.13395T>G (p.Ala4465=) c.13419T>G (p.Ala4473=) c.13473T>G (p.Ala4491=) c.13365T>G (p.Ala4455=) c.13542T>G (p.Ala4514=) c.13530T>G (p.Ala4510=) c.13887T>G (p.Ala4629=) c.13488T>G (p.Ala4496=) c.13476T>G (p.Ala4492=) c.13434T>G (p.Ala4478=) c.13410T>G (p.Ala4470=) c.13380T>G (p.Ala4460=) c.13557T>G (p.Ala4519=) c.13407T>G (p.Ala4469=) c.10107T>G (p.Ala3369=) | |
| 8 | g.143916360A>G | CA146304 | PLEC | c.13593T>C (p.Ala4531=) c.13512T>C (p.Ala4504=) c.13179T>C (p.Ala4393=) c.13392T>C (p.Ala4464=) c.13461T>C (p.Ala4487=) c.10161T>C (p.Ala3387=) c.13872T>C (p.Ala4624=) c.13395T>C (p.Ala4465=) c.13419T>C (p.Ala4473=) c.13473T>C (p.Ala4491=) c.13365T>C (p.Ala4455=) c.13542T>C (p.Ala4514=) c.13530T>C (p.Ala4510=) c.13887T>C (p.Ala4629=) c.13488T>C (p.Ala4496=) c.13476T>C (p.Ala4492=) c.13434T>C (p.Ala4478=) c.13410T>C (p.Ala4470=) c.13380T>C (p.Ala4460=) c.13557T>C (p.Ala4519=) c.13407T>C (p.Ala4469=) c.10107T>C (p.Ala3369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916360A>T | CA463526249 | PLEC | c.13593T>A (p.Ala4531=) c.13512T>A (p.Ala4504=) c.13179T>A (p.Ala4393=) c.13392T>A (p.Ala4464=) c.13461T>A (p.Ala4487=) c.10161T>A (p.Ala3387=) c.13872T>A (p.Ala4624=) c.13395T>A (p.Ala4465=) c.13419T>A (p.Ala4473=) c.13473T>A (p.Ala4491=) c.13365T>A (p.Ala4455=) c.13542T>A (p.Ala4514=) c.13530T>A (p.Ala4510=) c.13887T>A (p.Ala4629=) c.13488T>A (p.Ala4496=) c.13476T>A (p.Ala4492=) c.13434T>A (p.Ala4478=) c.13410T>A (p.Ala4470=) c.13380T>A (p.Ala4460=) c.13557T>A (p.Ala4519=) c.13407T>A (p.Ala4469=) c.10107T>A (p.Ala3369=) | gnomAD v4 |
| 8 | g.143916361G>A | CA372474361 | PLEC | c.13592C>T (p.Ala4531Val) c.13511C>T (p.Ala4504Val) c.13178C>T (p.Ala4393Val) c.13391C>T (p.Ala4464Val) c.13460C>T (p.Ala4487Val) c.10160C>T (p.Ala3387Val) c.13871C>T (p.Ala4624Val) c.13394C>T (p.Ala4465Val) c.13418C>T (p.Ala4473Val) c.13472C>T (p.Ala4491Val) c.13364C>T (p.Ala4455Val) c.13541C>T (p.Ala4514Val) c.13529C>T (p.Ala4510Val) c.13886C>T (p.Ala4629Val) c.13487C>T (p.Ala4496Val) c.13475C>T (p.Ala4492Val) c.13433C>T (p.Ala4478Val) c.13409C>T (p.Ala4470Val) c.13379C>T (p.Ala4460Val) c.13556C>T (p.Ala4519Val) c.13406C>T (p.Ala4469Val) c.10106C>T (p.Ala3369Val) | |
| 8 | g.143916361G>C | CA372474363 | PLEC | c.13592C>G (p.Ala4531Gly) c.13511C>G (p.Ala4504Gly) c.13178C>G (p.Ala4393Gly) c.13391C>G (p.Ala4464Gly) c.13460C>G (p.Ala4487Gly) c.10160C>G (p.Ala3387Gly) c.13871C>G (p.Ala4624Gly) c.13394C>G (p.Ala4465Gly) c.13418C>G (p.Ala4473Gly) c.13472C>G (p.Ala4491Gly) c.13364C>G (p.Ala4455Gly) c.13541C>G (p.Ala4514Gly) c.13529C>G (p.Ala4510Gly) c.13886C>G (p.Ala4629Gly) c.13487C>G (p.Ala4496Gly) c.13475C>G (p.Ala4492Gly) c.13433C>G (p.Ala4478Gly) c.13409C>G (p.Ala4470Gly) c.13379C>G (p.Ala4460Gly) c.13556C>G (p.Ala4519Gly) c.13406C>G (p.Ala4469Gly) c.10106C>G (p.Ala3369Gly) | |
| 8 | g.143916361G>T | CA372474365 | PLEC | c.13592C>A (p.Ala4531Asp) c.13511C>A (p.Ala4504Asp) c.13178C>A (p.Ala4393Asp) c.13391C>A (p.Ala4464Asp) c.13460C>A (p.Ala4487Asp) c.10160C>A (p.Ala3387Asp) c.13871C>A (p.Ala4624Asp) c.13394C>A (p.Ala4465Asp) c.13418C>A (p.Ala4473Asp) c.13472C>A (p.Ala4491Asp) c.13364C>A (p.Ala4455Asp) c.13541C>A (p.Ala4514Asp) c.13529C>A (p.Ala4510Asp) c.13886C>A (p.Ala4629Asp) c.13487C>A (p.Ala4496Asp) c.13475C>A (p.Ala4492Asp) c.13433C>A (p.Ala4478Asp) c.13409C>A (p.Ala4470Asp) c.13379C>A (p.Ala4460Asp) c.13556C>A (p.Ala4519Asp) c.13406C>A (p.Ala4469Asp) c.10106C>A (p.Ala3369Asp) | |
| 8 | g.143916361_143916362insAGCCGGTGCGCGAGCCGGTGCGGGAGCCGG | CA2689011281 | PLEC | c.13592_13593insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4531_Gly4532insGlySerArgThrGlySerArgThrGlySer) c.13511_13512insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4504_Gly4505insGlySerArgThrGlySerArgThrGlySer) c.13178_13179insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4393_Gly4394insGlySerArgThrGlySerArgThrGlySer) c.13391_13392insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4464_Gly4465insGlySerArgThrGlySerArgThrGlySer) c.13460_13461insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4487_Gly4488insGlySerArgThrGlySerArgThrGlySer) c.10160_10161insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala3387_Gly3388insGlySerArgThrGlySerArgThrGlySer) c.13871_13872insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4624_Gly4625insGlySerArgThrGlySerArgThrGlySer) c.13394_13395insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4465_Gly4466insGlySerArgThrGlySerArgThrGlySer) c.13418_13419insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4473_Gly4474insGlySerArgThrGlySerArgThrGlySer) c.13472_13473insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4491_Gly4492insGlySerArgThrGlySerArgThrGlySer) c.13364_13365insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4455_Gly4456insGlySerArgThrGlySerArgThrGlySer) c.13541_13542insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4514_Gly4515insGlySerArgThrGlySerArgThrGlySer) c.13529_13530insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4510_Gly4511insGlySerArgThrGlySerArgThrGlySer) c.13886_13887insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4629_Gly4630insGlySerArgThrGlySerArgThrGlySer) c.13487_13488insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4496_Gly4497insGlySerArgThrGlySerArgThrGlySer) c.13475_13476insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4492_Gly4493insGlySerArgThrGlySerArgThrGlySer) c.13433_13434insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4478_Gly4479insGlySerArgThrGlySerArgThrGlySer) c.13409_13410insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4470_Gly4471insGlySerArgThrGlySerArgThrGlySer) c.13379_13380insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4460_Gly4461insGlySerArgThrGlySerArgThrGlySer) c.13556_13557insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4519_Gly4520insGlySerArgThrGlySerArgThrGlySer) c.13406_13407insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala4469_Gly4470insGlySerArgThrGlySerArgThrGlySer) c.10106_10107insCGGCTCCCGCACCGGCTCGCGCACCGGCTC (p.Ala3369_Gly3370insGlySerArgThrGlySerArgThrGlySer) | gnomAD v4 |
| 8 | g.143916362_143916363insCGGC | CA4923802 | PLEC | c.13592_13593insCGGC (p.Ser4533TrpfsTer20) c.13511_13512insCGGC (p.Ser4506TrpfsTer20) c.13178_13179insCGGC (p.Ser4395TrpfsTer20) c.13391_13392insCGGC (p.Ser4466TrpfsTer20) c.13460_13461insCGGC (p.Ser4489TrpfsTer20) c.10160_10161insCGGC (p.Ser3389TrpfsTer20) c.13871_13872insCGGC (p.Ser4626TrpfsTer20) c.13394_13395insCGGC (p.Ser4467TrpfsTer20) c.13418_13419insCGGC (p.Ser4475TrpfsTer20) c.13472_13473insCGGC (p.Ser4493TrpfsTer20) c.13364_13365insCGGC (p.Ser4457TrpfsTer20) c.13541_13542insCGGC (p.Ser4516TrpfsTer20) c.13529_13530insCGGC (p.Ser4512TrpfsTer20) c.13886_13887insCGGC (p.Ser4631TrpfsTer20) c.13487_13488insCGGC (p.Ser4498TrpfsTer20) c.13475_13476insCGGC (p.Ser4494TrpfsTer20) c.13433_13434insCGGC (p.Ser4480TrpfsTer20) c.13409_13410insCGGC (p.Ser4472TrpfsTer20) c.13379_13380insCGGC (p.Ser4462TrpfsTer20) c.13556_13557insCGGC (p.Ser4521TrpfsTer20) c.13406_13407insCGGC (p.Ser4471TrpfsTer20) c.10106_10107insCGGC (p.Ser3371TrpfsTer20) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916362_143916363insCGGTGCGCGAGCCGGTGCGGGAGCCGGC | CA1120226743 | PLEC | c.13592_13593insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4541TrpfsTer20) c.13511_13512insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4514TrpfsTer20) c.13178_13179insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4403TrpfsTer20) c.13391_13392insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4474TrpfsTer20) c.13460_13461insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4497TrpfsTer20) c.10160_10161insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser3397TrpfsTer20) c.13871_13872insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4634TrpfsTer20) c.13394_13395insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4475TrpfsTer20) c.13418_13419insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4483TrpfsTer20) c.13472_13473insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4501TrpfsTer20) c.13364_13365insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4465TrpfsTer20) c.13541_13542insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4524TrpfsTer20) c.13529_13530insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4520TrpfsTer20) c.13886_13887insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4639TrpfsTer20) c.13487_13488insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4506TrpfsTer20) c.13475_13476insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4502TrpfsTer20) c.13433_13434insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4488TrpfsTer20) c.13409_13410insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4480TrpfsTer20) c.13379_13380insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4470TrpfsTer20) c.13556_13557insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4529TrpfsTer20) c.13406_13407insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser4479TrpfsTer20) c.10106_10107insCGGCTCCCGCACCGGCTCGCGCACCGGC (p.Ser3379TrpfsTer20) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143916362C>A | CA372474368 | PLEC | c.13591G>T (p.Ala4531Ser) c.13510G>T (p.Ala4504Ser) c.13177G>T (p.Ala4393Ser) c.13390G>T (p.Ala4464Ser) c.13459G>T (p.Ala4487Ser) c.10159G>T (p.Ala3387Ser) c.13870G>T (p.Ala4624Ser) c.13393G>T (p.Ala4465Ser) c.13417G>T (p.Ala4473Ser) c.13471G>T (p.Ala4491Ser) c.13363G>T (p.Ala4455Ser) c.13540G>T (p.Ala4514Ser) c.13528G>T (p.Ala4510Ser) c.13885G>T (p.Ala4629Ser) c.13486G>T (p.Ala4496Ser) c.13474G>T (p.Ala4492Ser) c.13432G>T (p.Ala4478Ser) c.13408G>T (p.Ala4470Ser) c.13378G>T (p.Ala4460Ser) c.13555G>T (p.Ala4519Ser) c.13405G>T (p.Ala4469Ser) c.10105G>T (p.Ala3369Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143916362C= | CA1826037038 | PLEC | c.13591G= (p.Ala4531=) c.13510G= (p.Ala4504=) c.13177G= (p.Ala4393=) c.13390G= (p.Ala4464=) c.13459G= (p.Ala4487=) c.10159G= (p.Ala3387=) c.13870G= (p.Ala4624=) c.13393G= (p.Ala4465=) c.13417G= (p.Ala4473=) c.13471G= (p.Ala4491=) c.13363G= (p.Ala4455=) c.13540G= (p.Ala4514=) c.13528G= (p.Ala4510=) c.13885G= (p.Ala4629=) c.13486G= (p.Ala4496=) c.13474G= (p.Ala4492=) c.13432G= (p.Ala4478=) c.13408G= (p.Ala4470=) c.13378G= (p.Ala4460=) c.13555G= (p.Ala4519=) c.13405G= (p.Ala4469=) c.10105G= (p.Ala3369=) | |
| 8 | g.143916362C>G | CA372474370 | PLEC | c.13591G>C (p.Ala4531Pro) c.13510G>C (p.Ala4504Pro) c.13177G>C (p.Ala4393Pro) c.13390G>C (p.Ala4464Pro) c.13459G>C (p.Ala4487Pro) c.10159G>C (p.Ala3387Pro) c.13870G>C (p.Ala4624Pro) c.13393G>C (p.Ala4465Pro) c.13417G>C (p.Ala4473Pro) c.13471G>C (p.Ala4491Pro) c.13363G>C (p.Ala4455Pro) c.13540G>C (p.Ala4514Pro) c.13528G>C (p.Ala4510Pro) c.13885G>C (p.Ala4629Pro) c.13486G>C (p.Ala4496Pro) c.13474G>C (p.Ala4492Pro) c.13432G>C (p.Ala4478Pro) c.13408G>C (p.Ala4470Pro) c.13378G>C (p.Ala4460Pro) c.13555G>C (p.Ala4519Pro) c.13405G>C (p.Ala4469Pro) c.10105G>C (p.Ala3369Pro) | |
| 8 | g.143916362C>T | CA4923803 | PLEC | c.13591G>A (p.Ala4531Thr) c.13510G>A (p.Ala4504Thr) c.13177G>A (p.Ala4393Thr) c.13390G>A (p.Ala4464Thr) c.13459G>A (p.Ala4487Thr) c.10159G>A (p.Ala3387Thr) c.13870G>A (p.Ala4624Thr) c.13393G>A (p.Ala4465Thr) c.13417G>A (p.Ala4473Thr) c.13471G>A (p.Ala4491Thr) c.13363G>A (p.Ala4455Thr) c.13540G>A (p.Ala4514Thr) c.13528G>A (p.Ala4510Thr) c.13885G>A (p.Ala4629Thr) c.13486G>A (p.Ala4496Thr) c.13474G>A (p.Ala4492Thr) c.13432G>A (p.Ala4478Thr) c.13408G>A (p.Ala4470Thr) c.13378G>A (p.Ala4460Thr) c.13555G>A (p.Ala4519Thr) c.13405G>A (p.Ala4469Thr) c.10105G>A (p.Ala3369Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916363G>A | CA4923804 | PLEC | c.13590C>T (p.Thr4530=) c.13509C>T (p.Thr4503=) c.13176C>T (p.Thr4392=) c.13389C>T (p.Thr4463=) c.13458C>T (p.Thr4486=) c.10158C>T (p.Thr3386=) c.13869C>T (p.Thr4623=) c.13392C>T (p.Thr4464=) c.13416C>T (p.Thr4472=) c.13470C>T (p.Thr4490=) c.13362C>T (p.Thr4454=) c.13539C>T (p.Thr4513=) c.13527C>T (p.Thr4509=) c.13884C>T (p.Thr4628=) c.13485C>T (p.Thr4495=) c.13473C>T (p.Thr4491=) c.13431C>T (p.Thr4477=) c.13407C>T (p.Thr4469=) c.13377C>T (p.Thr4459=) c.13554C>T (p.Thr4518=) c.13404C>T (p.Thr4468=) c.10104C>T (p.Thr3368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916363G>C | CA463526257 | PLEC | c.13590C>G (p.Thr4530=) c.13509C>G (p.Thr4503=) c.13176C>G (p.Thr4392=) c.13389C>G (p.Thr4463=) c.13458C>G (p.Thr4486=) c.10158C>G (p.Thr3386=) c.13869C>G (p.Thr4623=) c.13392C>G (p.Thr4464=) c.13416C>G (p.Thr4472=) c.13470C>G (p.Thr4490=) c.13362C>G (p.Thr4454=) c.13539C>G (p.Thr4513=) c.13527C>G (p.Thr4509=) c.13884C>G (p.Thr4628=) c.13485C>G (p.Thr4495=) c.13473C>G (p.Thr4491=) c.13431C>G (p.Thr4477=) c.13407C>G (p.Thr4469=) c.13377C>G (p.Thr4459=) c.13554C>G (p.Thr4518=) c.13404C>G (p.Thr4468=) c.10104C>G (p.Thr3368=) | |
| 8 | g.143916363G= | CA1826037043 | PLEC | c.13590C= (p.Thr4530=) c.13509C= (p.Thr4503=) c.13176C= (p.Thr4392=) c.13389C= (p.Thr4463=) c.13458C= (p.Thr4486=) c.10158C= (p.Thr3386=) c.13869C= (p.Thr4623=) c.13392C= (p.Thr4464=) c.13416C= (p.Thr4472=) c.13470C= (p.Thr4490=) c.13362C= (p.Thr4454=) c.13539C= (p.Thr4513=) c.13527C= (p.Thr4509=) c.13884C= (p.Thr4628=) c.13485C= (p.Thr4495=) c.13473C= (p.Thr4491=) c.13431C= (p.Thr4477=) c.13407C= (p.Thr4469=) c.13377C= (p.Thr4459=) c.13554C= (p.Thr4518=) c.13404C= (p.Thr4468=) c.10104C= (p.Thr3368=) | |
| 8 | g.143916363G>T | CA463526258 | PLEC | c.13590C>A (p.Thr4530=) c.13509C>A (p.Thr4503=) c.13176C>A (p.Thr4392=) c.13389C>A (p.Thr4463=) c.13458C>A (p.Thr4486=) c.10158C>A (p.Thr3386=) c.13869C>A (p.Thr4623=) c.13392C>A (p.Thr4464=) c.13416C>A (p.Thr4472=) c.13470C>A (p.Thr4490=) c.13362C>A (p.Thr4454=) c.13539C>A (p.Thr4513=) c.13527C>A (p.Thr4509=) c.13884C>A (p.Thr4628=) c.13485C>A (p.Thr4495=) c.13473C>A (p.Thr4491=) c.13431C>A (p.Thr4477=) c.13407C>A (p.Thr4469=) c.13377C>A (p.Thr4459=) c.13554C>A (p.Thr4518=) c.13404C>A (p.Thr4468=) c.10104C>A (p.Thr3368=) | gnomAD v4 |
| 8 | g.143916364G>A | CA372474374 | PLEC | c.13589C>T (p.Thr4530Ile) c.13508C>T (p.Thr4503Ile) c.13175C>T (p.Thr4392Ile) c.13388C>T (p.Thr4463Ile) c.13457C>T (p.Thr4486Ile) c.10157C>T (p.Thr3386Ile) c.13868C>T (p.Thr4623Ile) c.13391C>T (p.Thr4464Ile) c.13415C>T (p.Thr4472Ile) c.13469C>T (p.Thr4490Ile) c.13361C>T (p.Thr4454Ile) c.13538C>T (p.Thr4513Ile) c.13526C>T (p.Thr4509Ile) c.13883C>T (p.Thr4628Ile) c.13484C>T (p.Thr4495Ile) c.13472C>T (p.Thr4491Ile) c.13430C>T (p.Thr4477Ile) c.13406C>T (p.Thr4469Ile) c.13376C>T (p.Thr4459Ile) c.13553C>T (p.Thr4518Ile) c.13403C>T (p.Thr4468Ile) c.10103C>T (p.Thr3368Ile) | gnomAD v4 |
| 8 | g.143916364G>C | CA372474375 | PLEC | c.13589C>G (p.Thr4530Ser) c.13508C>G (p.Thr4503Ser) c.13175C>G (p.Thr4392Ser) c.13388C>G (p.Thr4463Ser) c.13457C>G (p.Thr4486Ser) c.10157C>G (p.Thr3386Ser) c.13868C>G (p.Thr4623Ser) c.13391C>G (p.Thr4464Ser) c.13415C>G (p.Thr4472Ser) c.13469C>G (p.Thr4490Ser) c.13361C>G (p.Thr4454Ser) c.13538C>G (p.Thr4513Ser) c.13526C>G (p.Thr4509Ser) c.13883C>G (p.Thr4628Ser) c.13484C>G (p.Thr4495Ser) c.13472C>G (p.Thr4491Ser) c.13430C>G (p.Thr4477Ser) c.13406C>G (p.Thr4469Ser) c.13376C>G (p.Thr4459Ser) c.13553C>G (p.Thr4518Ser) c.13403C>G (p.Thr4468Ser) c.10103C>G (p.Thr3368Ser) | |
| 8 | g.143916364G>T | CA372474377 | PLEC | c.13589C>A (p.Thr4530Asn) c.13508C>A (p.Thr4503Asn) c.13175C>A (p.Thr4392Asn) c.13388C>A (p.Thr4463Asn) c.13457C>A (p.Thr4486Asn) c.10157C>A (p.Thr3386Asn) c.13868C>A (p.Thr4623Asn) c.13391C>A (p.Thr4464Asn) c.13415C>A (p.Thr4472Asn) c.13469C>A (p.Thr4490Asn) c.13361C>A (p.Thr4454Asn) c.13538C>A (p.Thr4513Asn) c.13526C>A (p.Thr4509Asn) c.13883C>A (p.Thr4628Asn) c.13484C>A (p.Thr4495Asn) c.13472C>A (p.Thr4491Asn) c.13430C>A (p.Thr4477Asn) c.13406C>A (p.Thr4469Asn) c.13376C>A (p.Thr4459Asn) c.13553C>A (p.Thr4518Asn) c.13403C>A (p.Thr4468Asn) c.10103C>A (p.Thr3368Asn) | |
| 8 | g.143916364_143916366delinsGTA | CA1826037047 | PLEC | c.13587_13589delinsTAC (p.Ser4529=) c.13506_13508delinsTAC (p.Ser4502=) c.13173_13175delinsTAC (p.Ser4391=) c.13386_13388delinsTAC (p.Ser4462=) c.13455_13457delinsTAC (p.Ser4485=) c.10155_10157delinsTAC (p.Ser3385=) c.13866_13868delinsTAC (p.Ser4622=) c.13389_13391delinsTAC (p.Ser4463=) c.13413_13415delinsTAC (p.Ser4471=) c.13467_13469delinsTAC (p.Ser4489=) c.13359_13361delinsTAC (p.Ser4453=) c.13536_13538delinsTAC (p.Ser4512=) c.13524_13526delinsTAC (p.Ser4508=) c.13881_13883delinsTAC (p.Ser4627=) c.13482_13484delinsTAC (p.Ser4494=) c.13470_13472delinsTAC (p.Ser4490=) c.13428_13430delinsTAC (p.Ser4476=) c.13404_13406delinsTAC (p.Ser4468=) c.13374_13376delinsTAC (p.Ser4458=) c.13551_13553delinsTAC (p.Ser4517=) c.13401_13403delinsTAC (p.Ser4467=) c.10101_10103delinsTAC (p.Ser3367=) | |
| 8 | g.143916365T>A | CA372474379 | PLEC | c.13588A>T (p.Thr4530Ser) c.13507A>T (p.Thr4503Ser) c.13174A>T (p.Thr4392Ser) c.13387A>T (p.Thr4463Ser) c.13456A>T (p.Thr4486Ser) c.10156A>T (p.Thr3386Ser) c.13867A>T (p.Thr4623Ser) c.13390A>T (p.Thr4464Ser) c.13414A>T (p.Thr4472Ser) c.13468A>T (p.Thr4490Ser) c.13360A>T (p.Thr4454Ser) c.13537A>T (p.Thr4513Ser) c.13525A>T (p.Thr4509Ser) c.13882A>T (p.Thr4628Ser) c.13483A>T (p.Thr4495Ser) c.13471A>T (p.Thr4491Ser) c.13429A>T (p.Thr4477Ser) c.13405A>T (p.Thr4469Ser) c.13375A>T (p.Thr4459Ser) c.13552A>T (p.Thr4518Ser) c.13402A>T (p.Thr4468Ser) c.10102A>T (p.Thr3368Ser) | |
| 8 | g.143916365T>C | CA372474380 | PLEC | c.13588A>G (p.Thr4530Ala) c.13507A>G (p.Thr4503Ala) c.13174A>G (p.Thr4392Ala) c.13387A>G (p.Thr4463Ala) c.13456A>G (p.Thr4486Ala) c.10156A>G (p.Thr3386Ala) c.13867A>G (p.Thr4623Ala) c.13390A>G (p.Thr4464Ala) c.13414A>G (p.Thr4472Ala) c.13468A>G (p.Thr4490Ala) c.13360A>G (p.Thr4454Ala) c.13537A>G (p.Thr4513Ala) c.13525A>G (p.Thr4509Ala) c.13882A>G (p.Thr4628Ala) c.13483A>G (p.Thr4495Ala) c.13471A>G (p.Thr4491Ala) c.13429A>G (p.Thr4477Ala) c.13405A>G (p.Thr4469Ala) c.13375A>G (p.Thr4459Ala) c.13552A>G (p.Thr4518Ala) c.13402A>G (p.Thr4468Ala) c.10102A>G (p.Thr3368Ala) | COSMIC COSMIC COSMIC |
| 8 | g.143916365T>G | CA372474381 | PLEC | c.13588A>C (p.Thr4530Pro) c.13507A>C (p.Thr4503Pro) c.13174A>C (p.Thr4392Pro) c.13387A>C (p.Thr4463Pro) c.13456A>C (p.Thr4486Pro) c.10156A>C (p.Thr3386Pro) c.13867A>C (p.Thr4623Pro) c.13390A>C (p.Thr4464Pro) c.13414A>C (p.Thr4472Pro) c.13468A>C (p.Thr4490Pro) c.13360A>C (p.Thr4454Pro) c.13537A>C (p.Thr4513Pro) c.13525A>C (p.Thr4509Pro) c.13882A>C (p.Thr4628Pro) c.13483A>C (p.Thr4495Pro) c.13471A>C (p.Thr4491Pro) c.13429A>C (p.Thr4477Pro) c.13405A>C (p.Thr4469Pro) c.13375A>C (p.Thr4459Pro) c.13552A>C (p.Thr4518Pro) c.13402A>C (p.Thr4468Pro) c.10102A>C (p.Thr3368Pro) | |
| 8 | g.143916365_143916366del | CA1120226745 | PLEC | c.13587_13588del (p.Thr4530ArgfsTer21) c.13506_13507del (p.Thr4503ArgfsTer21) c.13173_13174del (p.Thr4392ArgfsTer21) c.13386_13387del (p.Thr4463ArgfsTer21) c.13455_13456del (p.Thr4486ArgfsTer21) c.10155_10156del (p.Thr3386ArgfsTer21) c.13866_13867del (p.Thr4623ArgfsTer21) c.13389_13390del (p.Thr4464ArgfsTer21) c.13413_13414del (p.Thr4472ArgfsTer21) c.13467_13468del (p.Thr4490ArgfsTer21) c.13359_13360del (p.Thr4454ArgfsTer21) c.13536_13537del (p.Thr4513ArgfsTer21) c.13524_13525del (p.Thr4509ArgfsTer21) c.13881_13882del (p.Thr4628ArgfsTer21) c.13482_13483del (p.Thr4495ArgfsTer21) c.13470_13471del (p.Thr4491ArgfsTer21) c.13428_13429del (p.Thr4477ArgfsTer21) c.13404_13405del (p.Thr4469ArgfsTer21) c.13374_13375del (p.Thr4459ArgfsTer21) c.13551_13552del (p.Thr4518ArgfsTer21) c.13401_13402del (p.Thr4468ArgfsTer21) c.10101_10102del (p.Thr3368ArgfsTer21) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143916366A= | CA1826037050 | PLEC | c.13587T= (p.Ser4529=) c.13506T= (p.Ser4502=) c.13173T= (p.Ser4391=) c.13386T= (p.Ser4462=) c.13455T= (p.Ser4485=) c.10155T= (p.Ser3385=) c.13866T= (p.Ser4622=) c.13389T= (p.Ser4463=) c.13413T= (p.Ser4471=) c.13467T= (p.Ser4489=) c.13359T= (p.Ser4453=) c.13536T= (p.Ser4512=) c.13524T= (p.Ser4508=) c.13881T= (p.Ser4627=) c.13482T= (p.Ser4494=) c.13470T= (p.Ser4490=) c.13428T= (p.Ser4476=) c.13404T= (p.Ser4468=) c.13374T= (p.Ser4458=) c.13551T= (p.Ser4517=) c.13401T= (p.Ser4467=) c.10101T= (p.Ser3367=) | |
| 8 | g.143916366A>C | CA463526262 | PLEC | c.13587T>G (p.Ser4529=) c.13506T>G (p.Ser4502=) c.13173T>G (p.Ser4391=) c.13386T>G (p.Ser4462=) c.13455T>G (p.Ser4485=) c.10155T>G (p.Ser3385=) c.13866T>G (p.Ser4622=) c.13389T>G (p.Ser4463=) c.13413T>G (p.Ser4471=) c.13467T>G (p.Ser4489=) c.13359T>G (p.Ser4453=) c.13536T>G (p.Ser4512=) c.13524T>G (p.Ser4508=) c.13881T>G (p.Ser4627=) c.13482T>G (p.Ser4494=) c.13470T>G (p.Ser4490=) c.13428T>G (p.Ser4476=) c.13404T>G (p.Ser4468=) c.13374T>G (p.Ser4458=) c.13551T>G (p.Ser4517=) c.13401T>G (p.Ser4467=) c.10101T>G (p.Ser3367=) | |
| 8 | g.143916366A>G | CA463526263 | PLEC | c.13587T>C (p.Ser4529=) c.13506T>C (p.Ser4502=) c.13173T>C (p.Ser4391=) c.13386T>C (p.Ser4462=) c.13455T>C (p.Ser4485=) c.10155T>C (p.Ser3385=) c.13866T>C (p.Ser4622=) c.13389T>C (p.Ser4463=) c.13413T>C (p.Ser4471=) c.13467T>C (p.Ser4489=) c.13359T>C (p.Ser4453=) c.13536T>C (p.Ser4512=) c.13524T>C (p.Ser4508=) c.13881T>C (p.Ser4627=) c.13482T>C (p.Ser4494=) c.13470T>C (p.Ser4490=) c.13428T>C (p.Ser4476=) c.13404T>C (p.Ser4468=) c.13374T>C (p.Ser4458=) c.13551T>C (p.Ser4517=) c.13401T>C (p.Ser4467=) c.10101T>C (p.Ser3367=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143916366A>T | CA463526267 | PLEC | c.13587T>A (p.Ser4529=) c.13506T>A (p.Ser4502=) c.13173T>A (p.Ser4391=) c.13386T>A (p.Ser4462=) c.13455T>A (p.Ser4485=) c.10155T>A (p.Ser3385=) c.13866T>A (p.Ser4622=) c.13389T>A (p.Ser4463=) c.13413T>A (p.Ser4471=) c.13467T>A (p.Ser4489=) c.13359T>A (p.Ser4453=) c.13536T>A (p.Ser4512=) c.13524T>A (p.Ser4508=) c.13881T>A (p.Ser4627=) c.13482T>A (p.Ser4494=) c.13470T>A (p.Ser4490=) c.13428T>A (p.Ser4476=) c.13404T>A (p.Ser4468=) c.13374T>A (p.Ser4458=) c.13551T>A (p.Ser4517=) c.13401T>A (p.Ser4467=) c.10101T>A (p.Ser3367=) | |
| 8 | g.143916367G>A | CA372474383 | PLEC | c.13586C>T (p.Ser4529Phe) c.13505C>T (p.Ser4502Phe) c.13172C>T (p.Ser4391Phe) c.13385C>T (p.Ser4462Phe) c.13454C>T (p.Ser4485Phe) c.10154C>T (p.Ser3385Phe) c.13865C>T (p.Ser4622Phe) c.13388C>T (p.Ser4463Phe) c.13412C>T (p.Ser4471Phe) c.13466C>T (p.Ser4489Phe) c.13358C>T (p.Ser4453Phe) c.13535C>T (p.Ser4512Phe) c.13523C>T (p.Ser4508Phe) c.13880C>T (p.Ser4627Phe) c.13481C>T (p.Ser4494Phe) c.13469C>T (p.Ser4490Phe) c.13427C>T (p.Ser4476Phe) c.13403C>T (p.Ser4468Phe) c.13373C>T (p.Ser4458Phe) c.13550C>T (p.Ser4517Phe) c.13400C>T (p.Ser4467Phe) c.10100C>T (p.Ser3367Phe) | dbSNP gnomAD v4 |
| 8 | g.143916367G>C | CA372474385 | PLEC | c.13586C>G (p.Ser4529Cys) c.13505C>G (p.Ser4502Cys) c.13172C>G (p.Ser4391Cys) c.13385C>G (p.Ser4462Cys) c.13454C>G (p.Ser4485Cys) c.10154C>G (p.Ser3385Cys) c.13865C>G (p.Ser4622Cys) c.13388C>G (p.Ser4463Cys) c.13412C>G (p.Ser4471Cys) c.13466C>G (p.Ser4489Cys) c.13358C>G (p.Ser4453Cys) c.13535C>G (p.Ser4512Cys) c.13523C>G (p.Ser4508Cys) c.13880C>G (p.Ser4627Cys) c.13481C>G (p.Ser4494Cys) c.13469C>G (p.Ser4490Cys) c.13427C>G (p.Ser4476Cys) c.13403C>G (p.Ser4468Cys) c.13373C>G (p.Ser4458Cys) c.13550C>G (p.Ser4517Cys) c.13400C>G (p.Ser4467Cys) c.10100C>G (p.Ser3367Cys) | |
| 8 | g.143916367G= | CA1826037051 | PLEC | c.13586C= (p.Ser4529=) c.13505C= (p.Ser4502=) c.13172C= (p.Ser4391=) c.13385C= (p.Ser4462=) c.13454C= (p.Ser4485=) c.10154C= (p.Ser3385=) c.13865C= (p.Ser4622=) c.13388C= (p.Ser4463=) c.13412C= (p.Ser4471=) c.13466C= (p.Ser4489=) c.13358C= (p.Ser4453=) c.13535C= (p.Ser4512=) c.13523C= (p.Ser4508=) c.13880C= (p.Ser4627=) c.13481C= (p.Ser4494=) c.13469C= (p.Ser4490=) c.13427C= (p.Ser4476=) c.13403C= (p.Ser4468=) c.13373C= (p.Ser4458=) c.13550C= (p.Ser4517=) c.13400C= (p.Ser4467=) c.10100C= (p.Ser3367=) | |
| 8 | g.143916367G>T | CA372474387 | PLEC | c.13586C>A (p.Ser4529Tyr) c.13505C>A (p.Ser4502Tyr) c.13172C>A (p.Ser4391Tyr) c.13385C>A (p.Ser4462Tyr) c.13454C>A (p.Ser4485Tyr) c.10154C>A (p.Ser3385Tyr) c.13865C>A (p.Ser4622Tyr) c.13388C>A (p.Ser4463Tyr) c.13412C>A (p.Ser4471Tyr) c.13466C>A (p.Ser4489Tyr) c.13358C>A (p.Ser4453Tyr) c.13535C>A (p.Ser4512Tyr) c.13523C>A (p.Ser4508Tyr) c.13880C>A (p.Ser4627Tyr) c.13481C>A (p.Ser4494Tyr) c.13469C>A (p.Ser4490Tyr) c.13427C>A (p.Ser4476Tyr) c.13403C>A (p.Ser4468Tyr) c.13373C>A (p.Ser4458Tyr) c.13550C>A (p.Ser4517Tyr) c.13400C>A (p.Ser4467Tyr) c.10100C>A (p.Ser3367Tyr) | |
| 8 | g.143916368A>C | CA372474389 | PLEC | c.13585T>G (p.Ser4529Ala) c.13504T>G (p.Ser4502Ala) c.13171T>G (p.Ser4391Ala) c.13384T>G (p.Ser4462Ala) c.13453T>G (p.Ser4485Ala) c.10153T>G (p.Ser3385Ala) c.13864T>G (p.Ser4622Ala) c.13387T>G (p.Ser4463Ala) c.13411T>G (p.Ser4471Ala) c.13465T>G (p.Ser4489Ala) c.13357T>G (p.Ser4453Ala) c.13534T>G (p.Ser4512Ala) c.13522T>G (p.Ser4508Ala) c.13879T>G (p.Ser4627Ala) c.13480T>G (p.Ser4494Ala) c.13468T>G (p.Ser4490Ala) c.13426T>G (p.Ser4476Ala) c.13402T>G (p.Ser4468Ala) c.13372T>G (p.Ser4458Ala) c.13549T>G (p.Ser4517Ala) c.13399T>G (p.Ser4467Ala) c.10099T>G (p.Ser3367Ala) | gnomAD v4 |
| 8 | g.143916368A>G | CA372474390 | PLEC | c.13585T>C (p.Ser4529Pro) c.13504T>C (p.Ser4502Pro) c.13171T>C (p.Ser4391Pro) c.13384T>C (p.Ser4462Pro) c.13453T>C (p.Ser4485Pro) c.10153T>C (p.Ser3385Pro) c.13864T>C (p.Ser4622Pro) c.13387T>C (p.Ser4463Pro) c.13411T>C (p.Ser4471Pro) c.13465T>C (p.Ser4489Pro) c.13357T>C (p.Ser4453Pro) c.13534T>C (p.Ser4512Pro) c.13522T>C (p.Ser4508Pro) c.13879T>C (p.Ser4627Pro) c.13480T>C (p.Ser4494Pro) c.13468T>C (p.Ser4490Pro) c.13426T>C (p.Ser4476Pro) c.13402T>C (p.Ser4468Pro) c.13372T>C (p.Ser4458Pro) c.13549T>C (p.Ser4517Pro) c.13399T>C (p.Ser4467Pro) c.10099T>C (p.Ser3367Pro) | |
| 8 | g.143916368A>T | CA372474391 | PLEC | c.13585T>A (p.Ser4529Thr) c.13504T>A (p.Ser4502Thr) c.13171T>A (p.Ser4391Thr) c.13384T>A (p.Ser4462Thr) c.13453T>A (p.Ser4485Thr) c.10153T>A (p.Ser3385Thr) c.13864T>A (p.Ser4622Thr) c.13387T>A (p.Ser4463Thr) c.13411T>A (p.Ser4471Thr) c.13465T>A (p.Ser4489Thr) c.13357T>A (p.Ser4453Thr) c.13534T>A (p.Ser4512Thr) c.13522T>A (p.Ser4508Thr) c.13879T>A (p.Ser4627Thr) c.13480T>A (p.Ser4494Thr) c.13468T>A (p.Ser4490Thr) c.13426T>A (p.Ser4476Thr) c.13402T>A (p.Ser4468Thr) c.13372T>A (p.Ser4458Thr) c.13549T>A (p.Ser4517Thr) c.13399T>A (p.Ser4467Thr) c.10099T>A (p.Ser3367Thr) | |
| 8 | g.143916369G>A | CA463526273 | PLEC | c.13584C>T (p.Gly4528=) c.13503C>T (p.Gly4501=) c.13170C>T (p.Gly4390=) c.13383C>T (p.Gly4461=) c.13452C>T (p.Gly4484=) c.10152C>T (p.Gly3384=) c.13863C>T (p.Gly4621=) c.13386C>T (p.Gly4462=) c.13410C>T (p.Gly4470=) c.13464C>T (p.Gly4488=) c.13356C>T (p.Gly4452=) c.13533C>T (p.Gly4511=) c.13521C>T (p.Gly4507=) c.13878C>T (p.Gly4626=) c.13479C>T (p.Gly4493=) c.13467C>T (p.Gly4489=) c.13425C>T (p.Gly4475=) c.13401C>T (p.Gly4467=) c.13371C>T (p.Gly4457=) c.13548C>T (p.Gly4516=) c.13398C>T (p.Gly4466=) c.10098C>T (p.Gly3366=) | |
| 8 | g.143916369G>C | CA463526274 | PLEC | c.13584C>G (p.Gly4528=) c.13503C>G (p.Gly4501=) c.13170C>G (p.Gly4390=) c.13383C>G (p.Gly4461=) c.13452C>G (p.Gly4484=) c.10152C>G (p.Gly3384=) c.13863C>G (p.Gly4621=) c.13386C>G (p.Gly4462=) c.13410C>G (p.Gly4470=) c.13464C>G (p.Gly4488=) c.13356C>G (p.Gly4452=) c.13533C>G (p.Gly4511=) c.13521C>G (p.Gly4507=) c.13878C>G (p.Gly4626=) c.13479C>G (p.Gly4493=) c.13467C>G (p.Gly4489=) c.13425C>G (p.Gly4475=) c.13401C>G (p.Gly4467=) c.13371C>G (p.Gly4457=) c.13548C>G (p.Gly4516=) c.13398C>G (p.Gly4466=) c.10098C>G (p.Gly3366=) | |
| 8 | g.143916369G>T | CA463526275 | PLEC | c.13584C>A (p.Gly4528=) c.13503C>A (p.Gly4501=) c.13170C>A (p.Gly4390=) c.13383C>A (p.Gly4461=) c.13452C>A (p.Gly4484=) c.10152C>A (p.Gly3384=) c.13863C>A (p.Gly4621=) c.13386C>A (p.Gly4462=) c.13410C>A (p.Gly4470=) c.13464C>A (p.Gly4488=) c.13356C>A (p.Gly4452=) c.13533C>A (p.Gly4511=) c.13521C>A (p.Gly4507=) c.13878C>A (p.Gly4626=) c.13479C>A (p.Gly4493=) c.13467C>A (p.Gly4489=) c.13425C>A (p.Gly4475=) c.13401C>A (p.Gly4467=) c.13371C>A (p.Gly4457=) c.13548C>A (p.Gly4516=) c.13398C>A (p.Gly4466=) c.10098C>A (p.Gly3366=) | |
| 8 | g.143916370C>A | CA372474395 | PLEC | c.13583G>T (p.Gly4528Val) c.13502G>T (p.Gly4501Val) c.13169G>T (p.Gly4390Val) c.13382G>T (p.Gly4461Val) c.13451G>T (p.Gly4484Val) c.10151G>T (p.Gly3384Val) c.13862G>T (p.Gly4621Val) c.13385G>T (p.Gly4462Val) c.13409G>T (p.Gly4470Val) c.13463G>T (p.Gly4488Val) c.13355G>T (p.Gly4452Val) c.13532G>T (p.Gly4511Val) c.13520G>T (p.Gly4507Val) c.13877G>T (p.Gly4626Val) c.13478G>T (p.Gly4493Val) c.13466G>T (p.Gly4489Val) c.13424G>T (p.Gly4475Val) c.13400G>T (p.Gly4467Val) c.13370G>T (p.Gly4457Val) c.13547G>T (p.Gly4516Val) c.13397G>T (p.Gly4466Val) c.10097G>T (p.Gly3366Val) | dbSNP gnomAD v4 |
| 8 | g.143916370C= | CA1826037054 | PLEC | c.13583G= (p.Gly4528=) c.13502G= (p.Gly4501=) c.13169G= (p.Gly4390=) c.13382G= (p.Gly4461=) c.13451G= (p.Gly4484=) c.10151G= (p.Gly3384=) c.13862G= (p.Gly4621=) c.13385G= (p.Gly4462=) c.13409G= (p.Gly4470=) c.13463G= (p.Gly4488=) c.13355G= (p.Gly4452=) c.13532G= (p.Gly4511=) c.13520G= (p.Gly4507=) c.13877G= (p.Gly4626=) c.13478G= (p.Gly4493=) c.13466G= (p.Gly4489=) c.13424G= (p.Gly4475=) c.13400G= (p.Gly4467=) c.13370G= (p.Gly4457=) c.13547G= (p.Gly4516=) c.13397G= (p.Gly4466=) c.10097G= (p.Gly3366=) | |
| 8 | g.143916370C>G | CA372474397 | PLEC | c.13583G>C (p.Gly4528Ala) c.13502G>C (p.Gly4501Ala) c.13169G>C (p.Gly4390Ala) c.13382G>C (p.Gly4461Ala) c.13451G>C (p.Gly4484Ala) c.10151G>C (p.Gly3384Ala) c.13862G>C (p.Gly4621Ala) c.13385G>C (p.Gly4462Ala) c.13409G>C (p.Gly4470Ala) c.13463G>C (p.Gly4488Ala) c.13355G>C (p.Gly4452Ala) c.13532G>C (p.Gly4511Ala) c.13520G>C (p.Gly4507Ala) c.13877G>C (p.Gly4626Ala) c.13478G>C (p.Gly4493Ala) c.13466G>C (p.Gly4489Ala) c.13424G>C (p.Gly4475Ala) c.13400G>C (p.Gly4467Ala) c.13370G>C (p.Gly4457Ala) c.13547G>C (p.Gly4516Ala) c.13397G>C (p.Gly4466Ala) c.10097G>C (p.Gly3366Ala) | |
| 8 | g.143916370C>T | CA372474393 | PLEC | c.13583G>A (p.Gly4528Asp) c.13502G>A (p.Gly4501Asp) c.13169G>A (p.Gly4390Asp) c.13382G>A (p.Gly4461Asp) c.13451G>A (p.Gly4484Asp) c.10151G>A (p.Gly3384Asp) c.13862G>A (p.Gly4621Asp) c.13385G>A (p.Gly4462Asp) c.13409G>A (p.Gly4470Asp) c.13463G>A (p.Gly4488Asp) c.13355G>A (p.Gly4452Asp) c.13532G>A (p.Gly4511Asp) c.13520G>A (p.Gly4507Asp) c.13877G>A (p.Gly4626Asp) c.13478G>A (p.Gly4493Asp) c.13466G>A (p.Gly4489Asp) c.13424G>A (p.Gly4475Asp) c.13400G>A (p.Gly4467Asp) c.13370G>A (p.Gly4457Asp) c.13547G>A (p.Gly4516Asp) c.13397G>A (p.Gly4466Asp) c.10097G>A (p.Gly3366Asp) | |
| 8 | g.143916371C>A | CA372474402 | PLEC | c.13582G>T (p.Gly4528Cys) c.13501G>T (p.Gly4501Cys) c.13168G>T (p.Gly4390Cys) c.13381G>T (p.Gly4461Cys) c.13450G>T (p.Gly4484Cys) c.10150G>T (p.Gly3384Cys) c.13861G>T (p.Gly4621Cys) c.13384G>T (p.Gly4462Cys) c.13408G>T (p.Gly4470Cys) c.13462G>T (p.Gly4488Cys) c.13354G>T (p.Gly4452Cys) c.13531G>T (p.Gly4511Cys) c.13519G>T (p.Gly4507Cys) c.13876G>T (p.Gly4626Cys) c.13477G>T (p.Gly4493Cys) c.13465G>T (p.Gly4489Cys) c.13423G>T (p.Gly4475Cys) c.13399G>T (p.Gly4467Cys) c.13369G>T (p.Gly4457Cys) c.13546G>T (p.Gly4516Cys) c.13396G>T (p.Gly4466Cys) c.10096G>T (p.Gly3366Cys) | |
| 8 | g.143916371C= | CA1826037061 | PLEC | c.13582G= (p.Gly4528=) c.13501G= (p.Gly4501=) c.13168G= (p.Gly4390=) c.13381G= (p.Gly4461=) c.13450G= (p.Gly4484=) c.10150G= (p.Gly3384=) c.13861G= (p.Gly4621=) c.13384G= (p.Gly4462=) c.13408G= (p.Gly4470=) c.13462G= (p.Gly4488=) c.13354G= (p.Gly4452=) c.13531G= (p.Gly4511=) c.13519G= (p.Gly4507=) c.13876G= (p.Gly4626=) c.13477G= (p.Gly4493=) c.13465G= (p.Gly4489=) c.13423G= (p.Gly4475=) c.13399G= (p.Gly4467=) c.13369G= (p.Gly4457=) c.13546G= (p.Gly4516=) c.13396G= (p.Gly4466=) c.10096G= (p.Gly3366=) | |
| 8 | g.143916371C>G | CA372474399 | PLEC | c.13582G>C (p.Gly4528Arg) c.13501G>C (p.Gly4501Arg) c.13168G>C (p.Gly4390Arg) c.13381G>C (p.Gly4461Arg) c.13450G>C (p.Gly4484Arg) c.10150G>C (p.Gly3384Arg) c.13861G>C (p.Gly4621Arg) c.13384G>C (p.Gly4462Arg) c.13408G>C (p.Gly4470Arg) c.13462G>C (p.Gly4488Arg) c.13354G>C (p.Gly4452Arg) c.13531G>C (p.Gly4511Arg) c.13519G>C (p.Gly4507Arg) c.13876G>C (p.Gly4626Arg) c.13477G>C (p.Gly4493Arg) c.13465G>C (p.Gly4489Arg) c.13423G>C (p.Gly4475Arg) c.13399G>C (p.Gly4467Arg) c.13369G>C (p.Gly4457Arg) c.13546G>C (p.Gly4516Arg) c.13396G>C (p.Gly4466Arg) c.10096G>C (p.Gly3366Arg) | dbSNP |
| 8 | g.143916371C>T | CA4923805 | PLEC | c.13582G>A (p.Gly4528Ser) c.13501G>A (p.Gly4501Ser) c.13168G>A (p.Gly4390Ser) c.13381G>A (p.Gly4461Ser) c.13450G>A (p.Gly4484Ser) c.10150G>A (p.Gly3384Ser) c.13861G>A (p.Gly4621Ser) c.13384G>A (p.Gly4462Ser) c.13408G>A (p.Gly4470Ser) c.13462G>A (p.Gly4488Ser) c.13354G>A (p.Gly4452Ser) c.13531G>A (p.Gly4511Ser) c.13519G>A (p.Gly4507Ser) c.13876G>A (p.Gly4626Ser) c.13477G>A (p.Gly4493Ser) c.13465G>A (p.Gly4489Ser) c.13423G>A (p.Gly4475Ser) c.13399G>A (p.Gly4467Ser) c.13369G>A (p.Gly4457Ser) c.13546G>A (p.Gly4516Ser) c.13396G>A (p.Gly4466Ser) c.10096G>A (p.Gly3366Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143916372G>A | CA4923806 | PLEC | c.13581C>T (p.Ser4527=) c.13500C>T (p.Ser4500=) c.13167C>T (p.Ser4389=) c.13380C>T (p.Ser4460=) c.13449C>T (p.Ser4483=) c.10149C>T (p.Ser3383=) c.13860C>T (p.Ser4620=) c.13383C>T (p.Ser4461=) c.13407C>T (p.Ser4469=) c.13461C>T (p.Ser4487=) c.13353C>T (p.Ser4451=) c.13530C>T (p.Ser4510=) c.13518C>T (p.Ser4506=) c.13875C>T (p.Ser4625=) c.13476C>T (p.Ser4492=) c.13464C>T (p.Ser4488=) c.13422C>T (p.Ser4474=) c.13398C>T (p.Ser4466=) c.13368C>T (p.Ser4456=) c.13545C>T (p.Ser4515=) c.13395C>T (p.Ser4465=) c.10095C>T (p.Ser3365=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916372G>C | CA463526287 | PLEC | c.13581C>G (p.Ser4527=) c.13500C>G (p.Ser4500=) c.13167C>G (p.Ser4389=) c.13380C>G (p.Ser4460=) c.13449C>G (p.Ser4483=) c.10149C>G (p.Ser3383=) c.13860C>G (p.Ser4620=) c.13383C>G (p.Ser4461=) c.13407C>G (p.Ser4469=) c.13461C>G (p.Ser4487=) c.13353C>G (p.Ser4451=) c.13530C>G (p.Ser4510=) c.13518C>G (p.Ser4506=) c.13875C>G (p.Ser4625=) c.13476C>G (p.Ser4492=) c.13464C>G (p.Ser4488=) c.13422C>G (p.Ser4474=) c.13398C>G (p.Ser4466=) c.13368C>G (p.Ser4456=) c.13545C>G (p.Ser4515=) c.13395C>G (p.Ser4465=) c.10095C>G (p.Ser3365=) | gnomAD v4 |
| 8 | g.143916372G= | CA1826037063 | PLEC | c.13581C= (p.Ser4527=) c.13500C= (p.Ser4500=) c.13167C= (p.Ser4389=) c.13380C= (p.Ser4460=) c.13449C= (p.Ser4483=) c.10149C= (p.Ser3383=) c.13860C= (p.Ser4620=) c.13383C= (p.Ser4461=) c.13407C= (p.Ser4469=) c.13461C= (p.Ser4487=) c.13353C= (p.Ser4451=) c.13530C= (p.Ser4510=) c.13518C= (p.Ser4506=) c.13875C= (p.Ser4625=) c.13476C= (p.Ser4492=) c.13464C= (p.Ser4488=) c.13422C= (p.Ser4474=) c.13398C= (p.Ser4466=) c.13368C= (p.Ser4456=) c.13545C= (p.Ser4515=) c.13395C= (p.Ser4465=) c.10095C= (p.Ser3365=) | |
| 8 | g.143916372G>T | CA463526285 | PLEC | c.13581C>A (p.Ser4527=) c.13500C>A (p.Ser4500=) c.13167C>A (p.Ser4389=) c.13380C>A (p.Ser4460=) c.13449C>A (p.Ser4483=) c.10149C>A (p.Ser3383=) c.13860C>A (p.Ser4620=) c.13383C>A (p.Ser4461=) c.13407C>A (p.Ser4469=) c.13461C>A (p.Ser4487=) c.13353C>A (p.Ser4451=) c.13530C>A (p.Ser4510=) c.13518C>A (p.Ser4506=) c.13875C>A (p.Ser4625=) c.13476C>A (p.Ser4492=) c.13464C>A (p.Ser4488=) c.13422C>A (p.Ser4474=) c.13398C>A (p.Ser4466=) c.13368C>A (p.Ser4456=) c.13545C>A (p.Ser4515=) c.13395C>A (p.Ser4465=) c.10095C>A (p.Ser3365=) | |
| 8 | g.143916373G>A | CA372474404 | PLEC | c.13580C>T (p.Ser4527Phe) c.13499C>T (p.Ser4500Phe) c.13166C>T (p.Ser4389Phe) c.13379C>T (p.Ser4460Phe) c.13448C>T (p.Ser4483Phe) c.10148C>T (p.Ser3383Phe) c.13859C>T (p.Ser4620Phe) c.13382C>T (p.Ser4461Phe) c.13406C>T (p.Ser4469Phe) c.13460C>T (p.Ser4487Phe) c.13352C>T (p.Ser4451Phe) c.13529C>T (p.Ser4510Phe) c.13517C>T (p.Ser4506Phe) c.13874C>T (p.Ser4625Phe) c.13475C>T (p.Ser4492Phe) c.13463C>T (p.Ser4488Phe) c.13421C>T (p.Ser4474Phe) c.13397C>T (p.Ser4466Phe) c.13367C>T (p.Ser4456Phe) c.13544C>T (p.Ser4515Phe) c.13394C>T (p.Ser4465Phe) c.10094C>T (p.Ser3365Phe) | |
| 8 | g.143916373G>C | CA372474405 | PLEC | c.13580C>G (p.Ser4527Cys) c.13499C>G (p.Ser4500Cys) c.13166C>G (p.Ser4389Cys) c.13379C>G (p.Ser4460Cys) c.13448C>G (p.Ser4483Cys) c.10148C>G (p.Ser3383Cys) c.13859C>G (p.Ser4620Cys) c.13382C>G (p.Ser4461Cys) c.13406C>G (p.Ser4469Cys) c.13460C>G (p.Ser4487Cys) c.13352C>G (p.Ser4451Cys) c.13529C>G (p.Ser4510Cys) c.13517C>G (p.Ser4506Cys) c.13874C>G (p.Ser4625Cys) c.13475C>G (p.Ser4492Cys) c.13463C>G (p.Ser4488Cys) c.13421C>G (p.Ser4474Cys) c.13397C>G (p.Ser4466Cys) c.13367C>G (p.Ser4456Cys) c.13544C>G (p.Ser4515Cys) c.13394C>G (p.Ser4465Cys) c.10094C>G (p.Ser3365Cys) | |
| 8 | g.143916373G>T | CA372474407 | PLEC | c.13580C>A (p.Ser4527Tyr) c.13499C>A (p.Ser4500Tyr) c.13166C>A (p.Ser4389Tyr) c.13379C>A (p.Ser4460Tyr) c.13448C>A (p.Ser4483Tyr) c.10148C>A (p.Ser3383Tyr) c.13859C>A (p.Ser4620Tyr) c.13382C>A (p.Ser4461Tyr) c.13406C>A (p.Ser4469Tyr) c.13460C>A (p.Ser4487Tyr) c.13352C>A (p.Ser4451Tyr) c.13529C>A (p.Ser4510Tyr) c.13517C>A (p.Ser4506Tyr) c.13874C>A (p.Ser4625Tyr) c.13475C>A (p.Ser4492Tyr) c.13463C>A (p.Ser4488Tyr) c.13421C>A (p.Ser4474Tyr) c.13397C>A (p.Ser4466Tyr) c.13367C>A (p.Ser4456Tyr) c.13544C>A (p.Ser4515Tyr) c.13394C>A (p.Ser4465Tyr) c.10094C>A (p.Ser3365Tyr) | gnomAD v4 |
| 8 | g.143916374A= | CA1826037066 | PLEC | c.13579T= (p.Ser4527=) c.13498T= (p.Ser4500=) c.13165T= (p.Ser4389=) c.13378T= (p.Ser4460=) c.13447T= (p.Ser4483=) c.10147T= (p.Ser3383=) c.13858T= (p.Ser4620=) c.13381T= (p.Ser4461=) c.13405T= (p.Ser4469=) c.13459T= (p.Ser4487=) c.13351T= (p.Ser4451=) c.13528T= (p.Ser4510=) c.13516T= (p.Ser4506=) c.13873T= (p.Ser4625=) c.13474T= (p.Ser4492=) c.13462T= (p.Ser4488=) c.13420T= (p.Ser4474=) c.13396T= (p.Ser4466=) c.13366T= (p.Ser4456=) c.13543T= (p.Ser4515=) c.13393T= (p.Ser4465=) c.10093T= (p.Ser3365=) | |
| 8 | g.143916374A>C | CA372474410 | PLEC | c.13579T>G (p.Ser4527Ala) c.13498T>G (p.Ser4500Ala) c.13165T>G (p.Ser4389Ala) c.13378T>G (p.Ser4460Ala) c.13447T>G (p.Ser4483Ala) c.10147T>G (p.Ser3383Ala) c.13858T>G (p.Ser4620Ala) c.13381T>G (p.Ser4461Ala) c.13405T>G (p.Ser4469Ala) c.13459T>G (p.Ser4487Ala) c.13351T>G (p.Ser4451Ala) c.13528T>G (p.Ser4510Ala) c.13516T>G (p.Ser4506Ala) c.13873T>G (p.Ser4625Ala) c.13474T>G (p.Ser4492Ala) c.13462T>G (p.Ser4488Ala) c.13420T>G (p.Ser4474Ala) c.13396T>G (p.Ser4466Ala) c.13366T>G (p.Ser4456Ala) c.13543T>G (p.Ser4515Ala) c.13393T>G (p.Ser4465Ala) c.10093T>G (p.Ser3365Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143916374A>G | CA372474412 | PLEC | c.13579T>C (p.Ser4527Pro) c.13498T>C (p.Ser4500Pro) c.13165T>C (p.Ser4389Pro) c.13378T>C (p.Ser4460Pro) c.13447T>C (p.Ser4483Pro) c.10147T>C (p.Ser3383Pro) c.13858T>C (p.Ser4620Pro) c.13381T>C (p.Ser4461Pro) c.13405T>C (p.Ser4469Pro) c.13459T>C (p.Ser4487Pro) c.13351T>C (p.Ser4451Pro) c.13528T>C (p.Ser4510Pro) c.13516T>C (p.Ser4506Pro) c.13873T>C (p.Ser4625Pro) c.13474T>C (p.Ser4492Pro) c.13462T>C (p.Ser4488Pro) c.13420T>C (p.Ser4474Pro) c.13396T>C (p.Ser4466Pro) c.13366T>C (p.Ser4456Pro) c.13543T>C (p.Ser4515Pro) c.13393T>C (p.Ser4465Pro) c.10093T>C (p.Ser3365Pro) | |
| 8 | g.143916374A>T | CA372474414 | PLEC | c.13579T>A (p.Ser4527Thr) c.13498T>A (p.Ser4500Thr) c.13165T>A (p.Ser4389Thr) c.13378T>A (p.Ser4460Thr) c.13447T>A (p.Ser4483Thr) c.10147T>A (p.Ser3383Thr) c.13858T>A (p.Ser4620Thr) c.13381T>A (p.Ser4461Thr) c.13405T>A (p.Ser4469Thr) c.13459T>A (p.Ser4487Thr) c.13351T>A (p.Ser4451Thr) c.13528T>A (p.Ser4510Thr) c.13516T>A (p.Ser4506Thr) c.13873T>A (p.Ser4625Thr) c.13474T>A (p.Ser4492Thr) c.13462T>A (p.Ser4488Thr) c.13420T>A (p.Ser4474Thr) c.13396T>A (p.Ser4466Thr) c.13366T>A (p.Ser4456Thr) c.13543T>A (p.Ser4515Thr) c.13393T>A (p.Ser4465Thr) c.10093T>A (p.Ser3365Thr) | |
| 8 | g.143916375G>A | CA463526294 | PLEC | c.13578C>T (p.Gly4526=) c.13497C>T (p.Gly4499=) c.13164C>T (p.Gly4388=) c.13377C>T (p.Gly4459=) c.13446C>T (p.Gly4482=) c.10146C>T (p.Gly3382=) c.13857C>T (p.Gly4619=) c.13380C>T (p.Gly4460=) c.13404C>T (p.Gly4468=) c.13458C>T (p.Gly4486=) c.13350C>T (p.Gly4450=) c.13527C>T (p.Gly4509=) c.13515C>T (p.Gly4505=) c.13872C>T (p.Gly4624=) c.13473C>T (p.Gly4491=) c.13461C>T (p.Gly4487=) c.13419C>T (p.Gly4473=) c.13395C>T (p.Gly4465=) c.13365C>T (p.Gly4455=) c.13542C>T (p.Gly4514=) c.13392C>T (p.Gly4464=) c.10092C>T (p.Gly3364=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143916375G>C | CA463526295 | PLEC | c.13578C>G (p.Gly4526=) c.13497C>G (p.Gly4499=) c.13164C>G (p.Gly4388=) c.13377C>G (p.Gly4459=) c.13446C>G (p.Gly4482=) c.10146C>G (p.Gly3382=) c.13857C>G (p.Gly4619=) c.13380C>G (p.Gly4460=) c.13404C>G (p.Gly4468=) c.13458C>G (p.Gly4486=) c.13350C>G (p.Gly4450=) c.13527C>G (p.Gly4509=) c.13515C>G (p.Gly4505=) c.13872C>G (p.Gly4624=) c.13473C>G (p.Gly4491=) c.13461C>G (p.Gly4487=) c.13419C>G (p.Gly4473=) c.13395C>G (p.Gly4465=) c.13365C>G (p.Gly4455=) c.13542C>G (p.Gly4514=) c.13392C>G (p.Gly4464=) c.10092C>G (p.Gly3364=) | |
| 8 | g.143916375G= | CA1826037068 | PLEC | c.13578C= (p.Gly4526=) c.13497C= (p.Gly4499=) c.13164C= (p.Gly4388=) c.13377C= (p.Gly4459=) c.13446C= (p.Gly4482=) c.10146C= (p.Gly3382=) c.13857C= (p.Gly4619=) c.13380C= (p.Gly4460=) c.13404C= (p.Gly4468=) c.13458C= (p.Gly4486=) c.13350C= (p.Gly4450=) c.13527C= (p.Gly4509=) c.13515C= (p.Gly4505=) c.13872C= (p.Gly4624=) c.13473C= (p.Gly4491=) c.13461C= (p.Gly4487=) c.13419C= (p.Gly4473=) c.13395C= (p.Gly4465=) c.13365C= (p.Gly4455=) c.13542C= (p.Gly4514=) c.13392C= (p.Gly4464=) c.10092C= (p.Gly3364=) | |
| 8 | g.143916375G>T | CA463526296 | PLEC | c.13578C>A (p.Gly4526=) c.13497C>A (p.Gly4499=) c.13164C>A (p.Gly4388=) c.13377C>A (p.Gly4459=) c.13446C>A (p.Gly4482=) c.10146C>A (p.Gly3382=) c.13857C>A (p.Gly4619=) c.13380C>A (p.Gly4460=) c.13404C>A (p.Gly4468=) c.13458C>A (p.Gly4486=) c.13350C>A (p.Gly4450=) c.13527C>A (p.Gly4509=) c.13515C>A (p.Gly4505=) c.13872C>A (p.Gly4624=) c.13473C>A (p.Gly4491=) c.13461C>A (p.Gly4487=) c.13419C>A (p.Gly4473=) c.13395C>A (p.Gly4465=) c.13365C>A (p.Gly4455=) c.13542C>A (p.Gly4514=) c.13392C>A (p.Gly4464=) c.10092C>A (p.Gly3364=) | |
| 8 | g.143916376C>A | CA372474415 | PLEC | c.13577G>T (p.Gly4526Val) c.13496G>T (p.Gly4499Val) c.13163G>T (p.Gly4388Val) c.13376G>T (p.Gly4459Val) c.13445G>T (p.Gly4482Val) c.10145G>T (p.Gly3382Val) c.13856G>T (p.Gly4619Val) c.13379G>T (p.Gly4460Val) c.13403G>T (p.Gly4468Val) c.13457G>T (p.Gly4486Val) c.13349G>T (p.Gly4450Val) c.13526G>T (p.Gly4509Val) c.13514G>T (p.Gly4505Val) c.13871G>T (p.Gly4624Val) c.13472G>T (p.Gly4491Val) c.13460G>T (p.Gly4487Val) c.13418G>T (p.Gly4473Val) c.13394G>T (p.Gly4465Val) c.13364G>T (p.Gly4455Val) c.13541G>T (p.Gly4514Val) c.13391G>T (p.Gly4464Val) c.10091G>T (p.Gly3364Val) | ClinVar dbSNP gnomAD v4 |
| 8 | g.143916376C= | CA1826037071 | PLEC | c.13577G= (p.Gly4526=) c.13496G= (p.Gly4499=) c.13163G= (p.Gly4388=) c.13376G= (p.Gly4459=) c.13445G= (p.Gly4482=) c.10145G= (p.Gly3382=) c.13856G= (p.Gly4619=) c.13379G= (p.Gly4460=) c.13403G= (p.Gly4468=) c.13457G= (p.Gly4486=) c.13349G= (p.Gly4450=) c.13526G= (p.Gly4509=) c.13514G= (p.Gly4505=) c.13871G= (p.Gly4624=) c.13472G= (p.Gly4491=) c.13460G= (p.Gly4487=) c.13418G= (p.Gly4473=) c.13394G= (p.Gly4465=) c.13364G= (p.Gly4455=) c.13541G= (p.Gly4514=) c.13391G= (p.Gly4464=) c.10091G= (p.Gly3364=) | |
| 8 | g.143916376C>G | CA372474416 | PLEC | c.13577G>C (p.Gly4526Ala) c.13496G>C (p.Gly4499Ala) c.13163G>C (p.Gly4388Ala) c.13376G>C (p.Gly4459Ala) c.13445G>C (p.Gly4482Ala) c.10145G>C (p.Gly3382Ala) c.13856G>C (p.Gly4619Ala) c.13379G>C (p.Gly4460Ala) c.13403G>C (p.Gly4468Ala) c.13457G>C (p.Gly4486Ala) c.13349G>C (p.Gly4450Ala) c.13526G>C (p.Gly4509Ala) c.13514G>C (p.Gly4505Ala) c.13871G>C (p.Gly4624Ala) c.13472G>C (p.Gly4491Ala) c.13460G>C (p.Gly4487Ala) c.13418G>C (p.Gly4473Ala) c.13394G>C (p.Gly4465Ala) c.13364G>C (p.Gly4455Ala) c.13541G>C (p.Gly4514Ala) c.13391G>C (p.Gly4464Ala) c.10091G>C (p.Gly3364Ala) | |
| 8 | g.143916376C>T | CA372474418 | PLEC | c.13577G>A (p.Gly4526Asp) c.13496G>A (p.Gly4499Asp) c.13163G>A (p.Gly4388Asp) c.13376G>A (p.Gly4459Asp) c.13445G>A (p.Gly4482Asp) c.10145G>A (p.Gly3382Asp) c.13856G>A (p.Gly4619Asp) c.13379G>A (p.Gly4460Asp) c.13403G>A (p.Gly4468Asp) c.13457G>A (p.Gly4486Asp) c.13349G>A (p.Gly4450Asp) c.13526G>A (p.Gly4509Asp) c.13514G>A (p.Gly4505Asp) c.13871G>A (p.Gly4624Asp) c.13472G>A (p.Gly4491Asp) c.13460G>A (p.Gly4487Asp) c.13418G>A (p.Gly4473Asp) c.13394G>A (p.Gly4465Asp) c.13364G>A (p.Gly4455Asp) c.13541G>A (p.Gly4514Asp) c.13391G>A (p.Gly4464Asp) c.10091G>A (p.Gly3364Asp) | dbSNP gnomAD v2 |
| 8 | g.143916377C>A | CA372474423 | PLEC | c.13576G>T (p.Gly4526Cys) c.13495G>T (p.Gly4499Cys) c.13162G>T (p.Gly4388Cys) c.13375G>T (p.Gly4459Cys) c.13444G>T (p.Gly4482Cys) c.10144G>T (p.Gly3382Cys) c.13855G>T (p.Gly4619Cys) c.13378G>T (p.Gly4460Cys) c.13402G>T (p.Gly4468Cys) c.13456G>T (p.Gly4486Cys) c.13348G>T (p.Gly4450Cys) c.13525G>T (p.Gly4509Cys) c.13513G>T (p.Gly4505Cys) c.13870G>T (p.Gly4624Cys) c.13471G>T (p.Gly4491Cys) c.13459G>T (p.Gly4487Cys) c.13417G>T (p.Gly4473Cys) c.13393G>T (p.Gly4465Cys) c.13363G>T (p.Gly4455Cys) c.13540G>T (p.Gly4514Cys) c.13390G>T (p.Gly4464Cys) c.10090G>T (p.Gly3364Cys) | |
| 8 | g.143916377C= | CA1826037077 | PLEC | c.13576G= (p.Gly4526=) c.13495G= (p.Gly4499=) c.13162G= (p.Gly4388=) c.13375G= (p.Gly4459=) c.13444G= (p.Gly4482=) c.10144G= (p.Gly3382=) c.13855G= (p.Gly4619=) c.13378G= (p.Gly4460=) c.13402G= (p.Gly4468=) c.13456G= (p.Gly4486=) c.13348G= (p.Gly4450=) c.13525G= (p.Gly4509=) c.13513G= (p.Gly4505=) c.13870G= (p.Gly4624=) c.13471G= (p.Gly4491=) c.13459G= (p.Gly4487=) c.13417G= (p.Gly4473=) c.13393G= (p.Gly4465=) c.13363G= (p.Gly4455=) c.13540G= (p.Gly4514=) c.13390G= (p.Gly4464=) c.10090G= (p.Gly3364=) | |
| 8 | g.143916377C>G | CA372474421 | PLEC | c.13576G>C (p.Gly4526Arg) c.13495G>C (p.Gly4499Arg) c.13162G>C (p.Gly4388Arg) c.13375G>C (p.Gly4459Arg) c.13444G>C (p.Gly4482Arg) c.10144G>C (p.Gly3382Arg) c.13855G>C (p.Gly4619Arg) c.13378G>C (p.Gly4460Arg) c.13402G>C (p.Gly4468Arg) c.13456G>C (p.Gly4486Arg) c.13348G>C (p.Gly4450Arg) c.13525G>C (p.Gly4509Arg) c.13513G>C (p.Gly4505Arg) c.13870G>C (p.Gly4624Arg) c.13471G>C (p.Gly4491Arg) c.13459G>C (p.Gly4487Arg) c.13417G>C (p.Gly4473Arg) c.13393G>C (p.Gly4465Arg) c.13363G>C (p.Gly4455Arg) c.13540G>C (p.Gly4514Arg) c.13390G>C (p.Gly4464Arg) c.10090G>C (p.Gly3364Arg) | |
| 8 | g.143916377C>T | CA4923807 | PLEC | c.13576G>A (p.Gly4526Ser) c.13495G>A (p.Gly4499Ser) c.13162G>A (p.Gly4388Ser) c.13375G>A (p.Gly4459Ser) c.13444G>A (p.Gly4482Ser) c.10144G>A (p.Gly3382Ser) c.13855G>A (p.Gly4619Ser) c.13378G>A (p.Gly4460Ser) c.13402G>A (p.Gly4468Ser) c.13456G>A (p.Gly4486Ser) c.13348G>A (p.Gly4450Ser) c.13525G>A (p.Gly4509Ser) c.13513G>A (p.Gly4505Ser) c.13870G>A (p.Gly4624Ser) c.13471G>A (p.Gly4491Ser) c.13459G>A (p.Gly4487Ser) c.13417G>A (p.Gly4473Ser) c.13393G>A (p.Gly4465Ser) c.13363G>A (p.Gly4455Ser) c.13540G>A (p.Gly4514Ser) c.13390G>A (p.Gly4464Ser) c.10090G>A (p.Gly3364Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916378G>A | CA4923808 | PLEC | c.13575C>T (p.Ser4525=) c.13494C>T (p.Ser4498=) c.13161C>T (p.Ser4387=) c.13374C>T (p.Ser4458=) c.13443C>T (p.Ser4481=) c.10143C>T (p.Ser3381=) c.13854C>T (p.Ser4618=) c.13377C>T (p.Ser4459=) c.13401C>T (p.Ser4467=) c.13455C>T (p.Ser4485=) c.13347C>T (p.Ser4449=) c.13524C>T (p.Ser4508=) c.13512C>T (p.Ser4504=) c.13869C>T (p.Ser4623=) c.13470C>T (p.Ser4490=) c.13458C>T (p.Ser4486=) c.13416C>T (p.Ser4472=) c.13392C>T (p.Ser4464=) c.13362C>T (p.Ser4454=) c.13539C>T (p.Ser4513=) c.13389C>T (p.Ser4463=) c.10089C>T (p.Ser3363=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916378G>C | CA372474426 | PLEC | c.13575C>G (p.Ser4525Arg) c.13494C>G (p.Ser4498Arg) c.13161C>G (p.Ser4387Arg) c.13374C>G (p.Ser4458Arg) c.13443C>G (p.Ser4481Arg) c.10143C>G (p.Ser3381Arg) c.13854C>G (p.Ser4618Arg) c.13377C>G (p.Ser4459Arg) c.13401C>G (p.Ser4467Arg) c.13455C>G (p.Ser4485Arg) c.13347C>G (p.Ser4449Arg) c.13524C>G (p.Ser4508Arg) c.13512C>G (p.Ser4504Arg) c.13869C>G (p.Ser4623Arg) c.13470C>G (p.Ser4490Arg) c.13458C>G (p.Ser4486Arg) c.13416C>G (p.Ser4472Arg) c.13392C>G (p.Ser4464Arg) c.13362C>G (p.Ser4454Arg) c.13539C>G (p.Ser4513Arg) c.13389C>G (p.Ser4463Arg) c.10089C>G (p.Ser3363Arg) | |
| 8 | g.143916378G= | CA1826037079 | PLEC | c.13575C= (p.Ser4525=) c.13494C= (p.Ser4498=) c.13161C= (p.Ser4387=) c.13374C= (p.Ser4458=) c.13443C= (p.Ser4481=) c.10143C= (p.Ser3381=) c.13854C= (p.Ser4618=) c.13377C= (p.Ser4459=) c.13401C= (p.Ser4467=) c.13455C= (p.Ser4485=) c.13347C= (p.Ser4449=) c.13524C= (p.Ser4508=) c.13512C= (p.Ser4504=) c.13869C= (p.Ser4623=) c.13470C= (p.Ser4490=) c.13458C= (p.Ser4486=) c.13416C= (p.Ser4472=) c.13392C= (p.Ser4464=) c.13362C= (p.Ser4454=) c.13539C= (p.Ser4513=) c.13389C= (p.Ser4463=) c.10089C= (p.Ser3363=) | |
| 8 | g.143916378G>T | CA372474428 | PLEC | c.13575C>A (p.Ser4525Arg) c.13494C>A (p.Ser4498Arg) c.13161C>A (p.Ser4387Arg) c.13374C>A (p.Ser4458Arg) c.13443C>A (p.Ser4481Arg) c.10143C>A (p.Ser3381Arg) c.13854C>A (p.Ser4618Arg) c.13377C>A (p.Ser4459Arg) c.13401C>A (p.Ser4467Arg) c.13455C>A (p.Ser4485Arg) c.13347C>A (p.Ser4449Arg) c.13524C>A (p.Ser4508Arg) c.13512C>A (p.Ser4504Arg) c.13869C>A (p.Ser4623Arg) c.13470C>A (p.Ser4490Arg) c.13458C>A (p.Ser4486Arg) c.13416C>A (p.Ser4472Arg) c.13392C>A (p.Ser4464Arg) c.13362C>A (p.Ser4454Arg) c.13539C>A (p.Ser4513Arg) c.13389C>A (p.Ser4463Arg) c.10089C>A (p.Ser3363Arg) | gnomAD v4 |
| 8 | g.143916379C>A | CA372474430 | PLEC | c.13574G>T (p.Ser4525Ile) c.13493G>T (p.Ser4498Ile) c.13160G>T (p.Ser4387Ile) c.13373G>T (p.Ser4458Ile) c.13442G>T (p.Ser4481Ile) c.10142G>T (p.Ser3381Ile) c.13853G>T (p.Ser4618Ile) c.13376G>T (p.Ser4459Ile) c.13400G>T (p.Ser4467Ile) c.13454G>T (p.Ser4485Ile) c.13346G>T (p.Ser4449Ile) c.13523G>T (p.Ser4508Ile) c.13511G>T (p.Ser4504Ile) c.13868G>T (p.Ser4623Ile) c.13469G>T (p.Ser4490Ile) c.13457G>T (p.Ser4486Ile) c.13415G>T (p.Ser4472Ile) c.13391G>T (p.Ser4464Ile) c.13361G>T (p.Ser4454Ile) c.13538G>T (p.Ser4513Ile) c.13388G>T (p.Ser4463Ile) c.10088G>T (p.Ser3363Ile) | |
| 8 | g.143916379C>G | CA372474435 | PLEC | c.13574G>C (p.Ser4525Thr) c.13493G>C (p.Ser4498Thr) c.13160G>C (p.Ser4387Thr) c.13373G>C (p.Ser4458Thr) c.13442G>C (p.Ser4481Thr) c.10142G>C (p.Ser3381Thr) c.13853G>C (p.Ser4618Thr) c.13376G>C (p.Ser4459Thr) c.13400G>C (p.Ser4467Thr) c.13454G>C (p.Ser4485Thr) c.13346G>C (p.Ser4449Thr) c.13523G>C (p.Ser4508Thr) c.13511G>C (p.Ser4504Thr) c.13868G>C (p.Ser4623Thr) c.13469G>C (p.Ser4490Thr) c.13457G>C (p.Ser4486Thr) c.13415G>C (p.Ser4472Thr) c.13391G>C (p.Ser4464Thr) c.13361G>C (p.Ser4454Thr) c.13538G>C (p.Ser4513Thr) c.13388G>C (p.Ser4463Thr) c.10088G>C (p.Ser3363Thr) | |
| 8 | g.143916379C>T | CA372474436 | PLEC | c.13574G>A (p.Ser4525Asn) c.13493G>A (p.Ser4498Asn) c.13160G>A (p.Ser4387Asn) c.13373G>A (p.Ser4458Asn) c.13442G>A (p.Ser4481Asn) c.10142G>A (p.Ser3381Asn) c.13853G>A (p.Ser4618Asn) c.13376G>A (p.Ser4459Asn) c.13400G>A (p.Ser4467Asn) c.13454G>A (p.Ser4485Asn) c.13346G>A (p.Ser4449Asn) c.13523G>A (p.Ser4508Asn) c.13511G>A (p.Ser4504Asn) c.13868G>A (p.Ser4623Asn) c.13469G>A (p.Ser4490Asn) c.13457G>A (p.Ser4486Asn) c.13415G>A (p.Ser4472Asn) c.13391G>A (p.Ser4464Asn) c.13361G>A (p.Ser4454Asn) c.13538G>A (p.Ser4513Asn) c.13388G>A (p.Ser4463Asn) c.10088G>A (p.Ser3363Asn) | |
| 8 | g.143916380T>A | CA372474437 | PLEC | c.13573A>T (p.Ser4525Cys) c.13492A>T (p.Ser4498Cys) c.13159A>T (p.Ser4387Cys) c.13372A>T (p.Ser4458Cys) c.13441A>T (p.Ser4481Cys) c.10141A>T (p.Ser3381Cys) c.13852A>T (p.Ser4618Cys) c.13375A>T (p.Ser4459Cys) c.13399A>T (p.Ser4467Cys) c.13453A>T (p.Ser4485Cys) c.13345A>T (p.Ser4449Cys) c.13522A>T (p.Ser4508Cys) c.13510A>T (p.Ser4504Cys) c.13867A>T (p.Ser4623Cys) c.13468A>T (p.Ser4490Cys) c.13456A>T (p.Ser4486Cys) c.13414A>T (p.Ser4472Cys) c.13390A>T (p.Ser4464Cys) c.13360A>T (p.Ser4454Cys) c.13537A>T (p.Ser4513Cys) c.13387A>T (p.Ser4463Cys) c.10087A>T (p.Ser3363Cys) | |
| 8 | g.143916380T>C | CA372474439 | PLEC | c.13573A>G (p.Ser4525Gly) c.13492A>G (p.Ser4498Gly) c.13159A>G (p.Ser4387Gly) c.13372A>G (p.Ser4458Gly) c.13441A>G (p.Ser4481Gly) c.10141A>G (p.Ser3381Gly) c.13852A>G (p.Ser4618Gly) c.13375A>G (p.Ser4459Gly) c.13399A>G (p.Ser4467Gly) c.13453A>G (p.Ser4485Gly) c.13345A>G (p.Ser4449Gly) c.13522A>G (p.Ser4508Gly) c.13510A>G (p.Ser4504Gly) c.13867A>G (p.Ser4623Gly) c.13468A>G (p.Ser4490Gly) c.13456A>G (p.Ser4486Gly) c.13414A>G (p.Ser4472Gly) c.13390A>G (p.Ser4464Gly) c.13360A>G (p.Ser4454Gly) c.13537A>G (p.Ser4513Gly) c.13387A>G (p.Ser4463Gly) c.10087A>G (p.Ser3363Gly) | gnomAD v4 |
| 8 | g.143916380T>G | CA372474441 | PLEC | c.13573A>C (p.Ser4525Arg) c.13492A>C (p.Ser4498Arg) c.13159A>C (p.Ser4387Arg) c.13372A>C (p.Ser4458Arg) c.13441A>C (p.Ser4481Arg) c.10141A>C (p.Ser3381Arg) c.13852A>C (p.Ser4618Arg) c.13375A>C (p.Ser4459Arg) c.13399A>C (p.Ser4467Arg) c.13453A>C (p.Ser4485Arg) c.13345A>C (p.Ser4449Arg) c.13522A>C (p.Ser4508Arg) c.13510A>C (p.Ser4504Arg) c.13867A>C (p.Ser4623Arg) c.13468A>C (p.Ser4490Arg) c.13456A>C (p.Ser4486Arg) c.13414A>C (p.Ser4472Arg) c.13390A>C (p.Ser4464Arg) c.13360A>C (p.Ser4454Arg) c.13537A>C (p.Ser4513Arg) c.13387A>C (p.Ser4463Arg) c.10087A>C (p.Ser3363Arg) | |
| 8 | g.143916381G>A | CA463526318 | PLEC | c.13572C>T (p.Val4524=) c.13491C>T (p.Val4497=) c.13158C>T (p.Val4386=) c.13371C>T (p.Val4457=) c.13440C>T (p.Val4480=) c.10140C>T (p.Val3380=) c.13851C>T (p.Val4617=) c.13374C>T (p.Val4458=) c.13398C>T (p.Val4466=) c.13452C>T (p.Val4484=) c.13344C>T (p.Val4448=) c.13521C>T (p.Val4507=) c.13509C>T (p.Val4503=) c.13866C>T (p.Val4622=) c.13467C>T (p.Val4489=) c.13455C>T (p.Val4485=) c.13413C>T (p.Val4471=) c.13389C>T (p.Val4463=) c.13359C>T (p.Val4453=) c.13536C>T (p.Val4512=) c.13386C>T (p.Val4462=) c.10086C>T (p.Val3362=) | dbSNP gnomAD v4 |
| 8 | g.143916381G>C | CA463526319 | PLEC | c.13572C>G (p.Val4524=) c.13491C>G (p.Val4497=) c.13158C>G (p.Val4386=) c.13371C>G (p.Val4457=) c.13440C>G (p.Val4480=) c.10140C>G (p.Val3380=) c.13851C>G (p.Val4617=) c.13374C>G (p.Val4458=) c.13398C>G (p.Val4466=) c.13452C>G (p.Val4484=) c.13344C>G (p.Val4448=) c.13521C>G (p.Val4507=) c.13509C>G (p.Val4503=) c.13866C>G (p.Val4622=) c.13467C>G (p.Val4489=) c.13455C>G (p.Val4485=) c.13413C>G (p.Val4471=) c.13389C>G (p.Val4463=) c.13359C>G (p.Val4453=) c.13536C>G (p.Val4512=) c.13386C>G (p.Val4462=) c.10086C>G (p.Val3362=) | |
| 8 | g.143916381G= | CA1826037080 | PLEC | c.13572C= (p.Val4524=) c.13491C= (p.Val4497=) c.13158C= (p.Val4386=) c.13371C= (p.Val4457=) c.13440C= (p.Val4480=) c.10140C= (p.Val3380=) c.13851C= (p.Val4617=) c.13374C= (p.Val4458=) c.13398C= (p.Val4466=) c.13452C= (p.Val4484=) c.13344C= (p.Val4448=) c.13521C= (p.Val4507=) c.13509C= (p.Val4503=) c.13866C= (p.Val4622=) c.13467C= (p.Val4489=) c.13455C= (p.Val4485=) c.13413C= (p.Val4471=) c.13389C= (p.Val4463=) c.13359C= (p.Val4453=) c.13536C= (p.Val4512=) c.13386C= (p.Val4462=) c.10086C= (p.Val3362=) | |
| 8 | g.143916381G>T | CA463526320 | PLEC | c.13572C>A (p.Val4524=) c.13491C>A (p.Val4497=) c.13158C>A (p.Val4386=) c.13371C>A (p.Val4457=) c.13440C>A (p.Val4480=) c.10140C>A (p.Val3380=) c.13851C>A (p.Val4617=) c.13374C>A (p.Val4458=) c.13398C>A (p.Val4466=) c.13452C>A (p.Val4484=) c.13344C>A (p.Val4448=) c.13521C>A (p.Val4507=) c.13509C>A (p.Val4503=) c.13866C>A (p.Val4622=) c.13467C>A (p.Val4489=) c.13455C>A (p.Val4485=) c.13413C>A (p.Val4471=) c.13389C>A (p.Val4463=) c.13359C>A (p.Val4453=) c.13536C>A (p.Val4512=) c.13386C>A (p.Val4462=) c.10086C>A (p.Val3362=) | |
| 8 | g.143916382A= | CA1826037081 | PLEC | c.13571T= (p.Val4524=) c.13490T= (p.Val4497=) c.13157T= (p.Val4386=) c.13370T= (p.Val4457=) c.13439T= (p.Val4480=) c.10139T= (p.Val3380=) c.13850T= (p.Val4617=) c.13373T= (p.Val4458=) c.13397T= (p.Val4466=) c.13451T= (p.Val4484=) c.13343T= (p.Val4448=) c.13520T= (p.Val4507=) c.13508T= (p.Val4503=) c.13865T= (p.Val4622=) c.13466T= (p.Val4489=) c.13454T= (p.Val4485=) c.13412T= (p.Val4471=) c.13388T= (p.Val4463=) c.13358T= (p.Val4453=) c.13535T= (p.Val4512=) c.13385T= (p.Val4462=) c.10085T= (p.Val3362=) | |
| 8 | g.143916382A>C | CA372474443 | PLEC | c.13571T>G (p.Val4524Gly) c.13490T>G (p.Val4497Gly) c.13157T>G (p.Val4386Gly) c.13370T>G (p.Val4457Gly) c.13439T>G (p.Val4480Gly) c.10139T>G (p.Val3380Gly) c.13850T>G (p.Val4617Gly) c.13373T>G (p.Val4458Gly) c.13397T>G (p.Val4466Gly) c.13451T>G (p.Val4484Gly) c.13343T>G (p.Val4448Gly) c.13520T>G (p.Val4507Gly) c.13508T>G (p.Val4503Gly) c.13865T>G (p.Val4622Gly) c.13466T>G (p.Val4489Gly) c.13454T>G (p.Val4485Gly) c.13412T>G (p.Val4471Gly) c.13388T>G (p.Val4463Gly) c.13358T>G (p.Val4453Gly) c.13535T>G (p.Val4512Gly) c.13385T>G (p.Val4462Gly) c.10085T>G (p.Val3362Gly) | |
| 8 | g.143916382A>G | CA372474445 | PLEC | c.13571T>C (p.Val4524Ala) c.13490T>C (p.Val4497Ala) c.13157T>C (p.Val4386Ala) c.13370T>C (p.Val4457Ala) c.13439T>C (p.Val4480Ala) c.10139T>C (p.Val3380Ala) c.13850T>C (p.Val4617Ala) c.13373T>C (p.Val4458Ala) c.13397T>C (p.Val4466Ala) c.13451T>C (p.Val4484Ala) c.13343T>C (p.Val4448Ala) c.13520T>C (p.Val4507Ala) c.13508T>C (p.Val4503Ala) c.13865T>C (p.Val4622Ala) c.13466T>C (p.Val4489Ala) c.13454T>C (p.Val4485Ala) c.13412T>C (p.Val4471Ala) c.13388T>C (p.Val4463Ala) c.13358T>C (p.Val4453Ala) c.13535T>C (p.Val4512Ala) c.13385T>C (p.Val4462Ala) c.10085T>C (p.Val3362Ala) | dbSNP gnomAD v4 |
| 8 | g.143916382A>T | CA372474447 | PLEC | c.13571T>A (p.Val4524Asp) c.13490T>A (p.Val4497Asp) c.13157T>A (p.Val4386Asp) c.13370T>A (p.Val4457Asp) c.13439T>A (p.Val4480Asp) c.10139T>A (p.Val3380Asp) c.13850T>A (p.Val4617Asp) c.13373T>A (p.Val4458Asp) c.13397T>A (p.Val4466Asp) c.13451T>A (p.Val4484Asp) c.13343T>A (p.Val4448Asp) c.13520T>A (p.Val4507Asp) c.13508T>A (p.Val4503Asp) c.13865T>A (p.Val4622Asp) c.13466T>A (p.Val4489Asp) c.13454T>A (p.Val4485Asp) c.13412T>A (p.Val4471Asp) c.13388T>A (p.Val4463Asp) c.13358T>A (p.Val4453Asp) c.13535T>A (p.Val4512Asp) c.13385T>A (p.Val4462Asp) c.10085T>A (p.Val3362Asp) | |
| 8 | g.143916383C>A | CA372474451 | PLEC | c.13570G>T (p.Val4524Phe) c.13489G>T (p.Val4497Phe) c.13156G>T (p.Val4386Phe) c.13369G>T (p.Val4457Phe) c.13438G>T (p.Val4480Phe) c.10138G>T (p.Val3380Phe) c.13849G>T (p.Val4617Phe) c.13372G>T (p.Val4458Phe) c.13396G>T (p.Val4466Phe) c.13450G>T (p.Val4484Phe) c.13342G>T (p.Val4448Phe) c.13519G>T (p.Val4507Phe) c.13507G>T (p.Val4503Phe) c.13864G>T (p.Val4622Phe) c.13465G>T (p.Val4489Phe) c.13453G>T (p.Val4485Phe) c.13411G>T (p.Val4471Phe) c.13387G>T (p.Val4463Phe) c.13357G>T (p.Val4453Phe) c.13534G>T (p.Val4512Phe) c.13384G>T (p.Val4462Phe) c.10084G>T (p.Val3362Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143916383C= | CA1826037083 | PLEC | c.13570G= (p.Val4524=) c.13489G= (p.Val4497=) c.13156G= (p.Val4386=) c.13369G= (p.Val4457=) c.13438G= (p.Val4480=) c.10138G= (p.Val3380=) c.13849G= (p.Val4617=) c.13372G= (p.Val4458=) c.13396G= (p.Val4466=) c.13450G= (p.Val4484=) c.13342G= (p.Val4448=) c.13519G= (p.Val4507=) c.13507G= (p.Val4503=) c.13864G= (p.Val4622=) c.13465G= (p.Val4489=) c.13453G= (p.Val4485=) c.13411G= (p.Val4471=) c.13387G= (p.Val4463=) c.13357G= (p.Val4453=) c.13534G= (p.Val4512=) c.13384G= (p.Val4462=) c.10084G= (p.Val3362=) | |
| 8 | g.143916383C>G | CA372474450 | PLEC | c.13570G>C (p.Val4524Leu) c.13489G>C (p.Val4497Leu) c.13156G>C (p.Val4386Leu) c.13369G>C (p.Val4457Leu) c.13438G>C (p.Val4480Leu) c.10138G>C (p.Val3380Leu) c.13849G>C (p.Val4617Leu) c.13372G>C (p.Val4458Leu) c.13396G>C (p.Val4466Leu) c.13450G>C (p.Val4484Leu) c.13342G>C (p.Val4448Leu) c.13519G>C (p.Val4507Leu) c.13507G>C (p.Val4503Leu) c.13864G>C (p.Val4622Leu) c.13465G>C (p.Val4489Leu) c.13453G>C (p.Val4485Leu) c.13411G>C (p.Val4471Leu) c.13387G>C (p.Val4463Leu) c.13357G>C (p.Val4453Leu) c.13534G>C (p.Val4512Leu) c.13384G>C (p.Val4462Leu) c.10084G>C (p.Val3362Leu) | |
| 8 | g.143916383C>T | CA187606085 | PLEC | c.13570G>A (p.Val4524Ile) c.13489G>A (p.Val4497Ile) c.13156G>A (p.Val4386Ile) c.13369G>A (p.Val4457Ile) c.13438G>A (p.Val4480Ile) c.10138G>A (p.Val3380Ile) c.13849G>A (p.Val4617Ile) c.13372G>A (p.Val4458Ile) c.13396G>A (p.Val4466Ile) c.13450G>A (p.Val4484Ile) c.13342G>A (p.Val4448Ile) c.13519G>A (p.Val4507Ile) c.13507G>A (p.Val4503Ile) c.13864G>A (p.Val4622Ile) c.13465G>A (p.Val4489Ile) c.13453G>A (p.Val4485Ile) c.13411G>A (p.Val4471Ile) c.13387G>A (p.Val4463Ile) c.13357G>A (p.Val4453Ile) c.13534G>A (p.Val4512Ile) c.13384G>A (p.Val4462Ile) c.10084G>A (p.Val3362Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916384G>A | CA4923809 | PLEC | c.13569C>T (p.Ser4523=) c.13488C>T (p.Ser4496=) c.13155C>T (p.Ser4385=) c.13368C>T (p.Ser4456=) c.13437C>T (p.Ser4479=) c.10137C>T (p.Ser3379=) c.13848C>T (p.Ser4616=) c.13371C>T (p.Ser4457=) c.13395C>T (p.Ser4465=) c.13449C>T (p.Ser4483=) c.13341C>T (p.Ser4447=) c.13518C>T (p.Ser4506=) c.13506C>T (p.Ser4502=) c.13863C>T (p.Ser4621=) c.13464C>T (p.Ser4488=) c.13452C>T (p.Ser4484=) c.13410C>T (p.Ser4470=) c.13386C>T (p.Ser4462=) c.13356C>T (p.Ser4452=) c.13533C>T (p.Ser4511=) c.13383C>T (p.Ser4461=) c.10083C>T (p.Ser3361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916384G>C | CA372474454 | PLEC | c.13569C>G (p.Ser4523Arg) c.13488C>G (p.Ser4496Arg) c.13155C>G (p.Ser4385Arg) c.13368C>G (p.Ser4456Arg) c.13437C>G (p.Ser4479Arg) c.10137C>G (p.Ser3379Arg) c.13848C>G (p.Ser4616Arg) c.13371C>G (p.Ser4457Arg) c.13395C>G (p.Ser4465Arg) c.13449C>G (p.Ser4483Arg) c.13341C>G (p.Ser4447Arg) c.13518C>G (p.Ser4506Arg) c.13506C>G (p.Ser4502Arg) c.13863C>G (p.Ser4621Arg) c.13464C>G (p.Ser4488Arg) c.13452C>G (p.Ser4484Arg) c.13410C>G (p.Ser4470Arg) c.13386C>G (p.Ser4462Arg) c.13356C>G (p.Ser4452Arg) c.13533C>G (p.Ser4511Arg) c.13383C>G (p.Ser4461Arg) c.10083C>G (p.Ser3361Arg) | |
| 8 | g.143916384G= | CA1826037087 | PLEC | c.13569C= (p.Ser4523=) c.13488C= (p.Ser4496=) c.13155C= (p.Ser4385=) c.13368C= (p.Ser4456=) c.13437C= (p.Ser4479=) c.10137C= (p.Ser3379=) c.13848C= (p.Ser4616=) c.13371C= (p.Ser4457=) c.13395C= (p.Ser4465=) c.13449C= (p.Ser4483=) c.13341C= (p.Ser4447=) c.13518C= (p.Ser4506=) c.13506C= (p.Ser4502=) c.13863C= (p.Ser4621=) c.13464C= (p.Ser4488=) c.13452C= (p.Ser4484=) c.13410C= (p.Ser4470=) c.13386C= (p.Ser4462=) c.13356C= (p.Ser4452=) c.13533C= (p.Ser4511=) c.13383C= (p.Ser4461=) c.10083C= (p.Ser3361=) | |
| 8 | g.143916384G>T | CA372474456 | PLEC | c.13569C>A (p.Ser4523Arg) c.13488C>A (p.Ser4496Arg) c.13155C>A (p.Ser4385Arg) c.13368C>A (p.Ser4456Arg) c.13437C>A (p.Ser4479Arg) c.10137C>A (p.Ser3379Arg) c.13848C>A (p.Ser4616Arg) c.13371C>A (p.Ser4457Arg) c.13395C>A (p.Ser4465Arg) c.13449C>A (p.Ser4483Arg) c.13341C>A (p.Ser4447Arg) c.13518C>A (p.Ser4506Arg) c.13506C>A (p.Ser4502Arg) c.13863C>A (p.Ser4621Arg) c.13464C>A (p.Ser4488Arg) c.13452C>A (p.Ser4484Arg) c.13410C>A (p.Ser4470Arg) c.13386C>A (p.Ser4462Arg) c.13356C>A (p.Ser4452Arg) c.13533C>A (p.Ser4511Arg) c.13383C>A (p.Ser4461Arg) c.10083C>A (p.Ser3361Arg) | gnomAD v4 |
| 8 | g.143916385C>A | CA372474458 | PLEC | c.13568G>T (p.Ser4523Ile) c.13487G>T (p.Ser4496Ile) c.13154G>T (p.Ser4385Ile) c.13367G>T (p.Ser4456Ile) c.13436G>T (p.Ser4479Ile) c.10136G>T (p.Ser3379Ile) c.13847G>T (p.Ser4616Ile) c.13370G>T (p.Ser4457Ile) c.13394G>T (p.Ser4465Ile) c.13448G>T (p.Ser4483Ile) c.13340G>T (p.Ser4447Ile) c.13517G>T (p.Ser4506Ile) c.13505G>T (p.Ser4502Ile) c.13862G>T (p.Ser4621Ile) c.13463G>T (p.Ser4488Ile) c.13451G>T (p.Ser4484Ile) c.13409G>T (p.Ser4470Ile) c.13385G>T (p.Ser4462Ile) c.13355G>T (p.Ser4452Ile) c.13532G>T (p.Ser4511Ile) c.13382G>T (p.Ser4461Ile) c.10082G>T (p.Ser3361Ile) | |
| 8 | g.143916385C>G | CA372474460 | PLEC | c.13568G>C (p.Ser4523Thr) c.13487G>C (p.Ser4496Thr) c.13154G>C (p.Ser4385Thr) c.13367G>C (p.Ser4456Thr) c.13436G>C (p.Ser4479Thr) c.10136G>C (p.Ser3379Thr) c.13847G>C (p.Ser4616Thr) c.13370G>C (p.Ser4457Thr) c.13394G>C (p.Ser4465Thr) c.13448G>C (p.Ser4483Thr) c.13340G>C (p.Ser4447Thr) c.13517G>C (p.Ser4506Thr) c.13505G>C (p.Ser4502Thr) c.13862G>C (p.Ser4621Thr) c.13463G>C (p.Ser4488Thr) c.13451G>C (p.Ser4484Thr) c.13409G>C (p.Ser4470Thr) c.13385G>C (p.Ser4462Thr) c.13355G>C (p.Ser4452Thr) c.13532G>C (p.Ser4511Thr) c.13382G>C (p.Ser4461Thr) c.10082G>C (p.Ser3361Thr) | |
| 8 | g.143916385C>T | CA372474461 | PLEC | c.13568G>A (p.Ser4523Asn) c.13487G>A (p.Ser4496Asn) c.13154G>A (p.Ser4385Asn) c.13367G>A (p.Ser4456Asn) c.13436G>A (p.Ser4479Asn) c.10136G>A (p.Ser3379Asn) c.13847G>A (p.Ser4616Asn) c.13370G>A (p.Ser4457Asn) c.13394G>A (p.Ser4465Asn) c.13448G>A (p.Ser4483Asn) c.13340G>A (p.Ser4447Asn) c.13517G>A (p.Ser4506Asn) c.13505G>A (p.Ser4502Asn) c.13862G>A (p.Ser4621Asn) c.13463G>A (p.Ser4488Asn) c.13451G>A (p.Ser4484Asn) c.13409G>A (p.Ser4470Asn) c.13385G>A (p.Ser4462Asn) c.13355G>A (p.Ser4452Asn) c.13532G>A (p.Ser4511Asn) c.13382G>A (p.Ser4461Asn) c.10082G>A (p.Ser3361Asn) | |
| 8 | g.143916386T>A | CA187606089 | PLEC | c.13567A>T (p.Ser4523Cys) c.13486A>T (p.Ser4496Cys) c.13153A>T (p.Ser4385Cys) c.13366A>T (p.Ser4456Cys) c.13435A>T (p.Ser4479Cys) c.10135A>T (p.Ser3379Cys) c.13846A>T (p.Ser4616Cys) c.13369A>T (p.Ser4457Cys) c.13393A>T (p.Ser4465Cys) c.13447A>T (p.Ser4483Cys) c.13339A>T (p.Ser4447Cys) c.13516A>T (p.Ser4506Cys) c.13504A>T (p.Ser4502Cys) c.13861A>T (p.Ser4621Cys) c.13462A>T (p.Ser4488Cys) c.13450A>T (p.Ser4484Cys) c.13408A>T (p.Ser4470Cys) c.13384A>T (p.Ser4462Cys) c.13354A>T (p.Ser4452Cys) c.13531A>T (p.Ser4511Cys) c.13381A>T (p.Ser4461Cys) c.10081A>T (p.Ser3361Cys) | dbSNP gnomAD v4 |
| 8 | g.143916386T>C | CA372474463 | PLEC | c.13567A>G (p.Ser4523Gly) c.13486A>G (p.Ser4496Gly) c.13153A>G (p.Ser4385Gly) c.13366A>G (p.Ser4456Gly) c.13435A>G (p.Ser4479Gly) c.10135A>G (p.Ser3379Gly) c.13846A>G (p.Ser4616Gly) c.13369A>G (p.Ser4457Gly) c.13393A>G (p.Ser4465Gly) c.13447A>G (p.Ser4483Gly) c.13339A>G (p.Ser4447Gly) c.13516A>G (p.Ser4506Gly) c.13504A>G (p.Ser4502Gly) c.13861A>G (p.Ser4621Gly) c.13462A>G (p.Ser4488Gly) c.13450A>G (p.Ser4484Gly) c.13408A>G (p.Ser4470Gly) c.13384A>G (p.Ser4462Gly) c.13354A>G (p.Ser4452Gly) c.13531A>G (p.Ser4511Gly) c.13381A>G (p.Ser4461Gly) c.10081A>G (p.Ser3361Gly) | gnomAD v4 |
| 8 | g.143916386T>G | CA372474466 | PLEC | c.13567A>C (p.Ser4523Arg) c.13486A>C (p.Ser4496Arg) c.13153A>C (p.Ser4385Arg) c.13366A>C (p.Ser4456Arg) c.13435A>C (p.Ser4479Arg) c.10135A>C (p.Ser3379Arg) c.13846A>C (p.Ser4616Arg) c.13369A>C (p.Ser4457Arg) c.13393A>C (p.Ser4465Arg) c.13447A>C (p.Ser4483Arg) c.13339A>C (p.Ser4447Arg) c.13516A>C (p.Ser4506Arg) c.13504A>C (p.Ser4502Arg) c.13861A>C (p.Ser4621Arg) c.13462A>C (p.Ser4488Arg) c.13450A>C (p.Ser4484Arg) c.13408A>C (p.Ser4470Arg) c.13384A>C (p.Ser4462Arg) c.13354A>C (p.Ser4452Arg) c.13531A>C (p.Ser4511Arg) c.13381A>C (p.Ser4461Arg) c.10081A>C (p.Ser3361Arg) | |
| 8 | g.143916386T= | CA1826037089 | PLEC | c.13567A= (p.Ser4523=) c.13486A= (p.Ser4496=) c.13153A= (p.Ser4385=) c.13366A= (p.Ser4456=) c.13435A= (p.Ser4479=) c.10135A= (p.Ser3379=) c.13846A= (p.Ser4616=) c.13369A= (p.Ser4457=) c.13393A= (p.Ser4465=) c.13447A= (p.Ser4483=) c.13339A= (p.Ser4447=) c.13516A= (p.Ser4506=) c.13504A= (p.Ser4502=) c.13861A= (p.Ser4621=) c.13462A= (p.Ser4488=) c.13450A= (p.Ser4484=) c.13408A= (p.Ser4470=) c.13384A= (p.Ser4462=) c.13354A= (p.Ser4452=) c.13531A= (p.Ser4511=) c.13381A= (p.Ser4461=) c.10081A= (p.Ser3361=) | |
| 8 | g.143916387G>A | CA463526334 | PLEC | c.13566C>T (p.Tyr4522=) c.13485C>T (p.Tyr4495=) c.13152C>T (p.Tyr4384=) c.13365C>T (p.Tyr4455=) c.13434C>T (p.Tyr4478=) c.10134C>T (p.Tyr3378=) c.13845C>T (p.Tyr4615=) c.13368C>T (p.Tyr4456=) c.13392C>T (p.Tyr4464=) c.13446C>T (p.Tyr4482=) c.13338C>T (p.Tyr4446=) c.13515C>T (p.Tyr4505=) c.13503C>T (p.Tyr4501=) c.13860C>T (p.Tyr4620=) c.13461C>T (p.Tyr4487=) c.13449C>T (p.Tyr4483=) c.13407C>T (p.Tyr4469=) c.13383C>T (p.Tyr4461=) c.13353C>T (p.Tyr4451=) c.13530C>T (p.Tyr4510=) c.13380C>T (p.Tyr4460=) c.10080C>T (p.Tyr3360=) | gnomAD v4 |
| 8 | g.143916387G>C | CA372474469 | PLEC | c.13566C>G (p.Tyr4522Ter) c.13485C>G (p.Tyr4495Ter) c.13152C>G (p.Tyr4384Ter) c.13365C>G (p.Tyr4455Ter) c.13434C>G (p.Tyr4478Ter) c.10134C>G (p.Tyr3378Ter) c.13845C>G (p.Tyr4615Ter) c.13368C>G (p.Tyr4456Ter) c.13392C>G (p.Tyr4464Ter) c.13446C>G (p.Tyr4482Ter) c.13338C>G (p.Tyr4446Ter) c.13515C>G (p.Tyr4505Ter) c.13503C>G (p.Tyr4501Ter) c.13860C>G (p.Tyr4620Ter) c.13461C>G (p.Tyr4487Ter) c.13449C>G (p.Tyr4483Ter) c.13407C>G (p.Tyr4469Ter) c.13383C>G (p.Tyr4461Ter) c.13353C>G (p.Tyr4451Ter) c.13530C>G (p.Tyr4510Ter) c.13380C>G (p.Tyr4460Ter) c.10080C>G (p.Tyr3360Ter) | |
| 8 | g.143916387G>T | CA372474471 | PLEC | c.13566C>A (p.Tyr4522Ter) c.13485C>A (p.Tyr4495Ter) c.13152C>A (p.Tyr4384Ter) c.13365C>A (p.Tyr4455Ter) c.13434C>A (p.Tyr4478Ter) c.10134C>A (p.Tyr3378Ter) c.13845C>A (p.Tyr4615Ter) c.13368C>A (p.Tyr4456Ter) c.13392C>A (p.Tyr4464Ter) c.13446C>A (p.Tyr4482Ter) c.13338C>A (p.Tyr4446Ter) c.13515C>A (p.Tyr4505Ter) c.13503C>A (p.Tyr4501Ter) c.13860C>A (p.Tyr4620Ter) c.13461C>A (p.Tyr4487Ter) c.13449C>A (p.Tyr4483Ter) c.13407C>A (p.Tyr4469Ter) c.13383C>A (p.Tyr4461Ter) c.13353C>A (p.Tyr4451Ter) c.13530C>A (p.Tyr4510Ter) c.13380C>A (p.Tyr4460Ter) c.10080C>A (p.Tyr3360Ter) | |
| 8 | g.143916388T>A | CA372474473 | PLEC | c.13565A>T (p.Tyr4522Phe) c.13484A>T (p.Tyr4495Phe) c.13151A>T (p.Tyr4384Phe) c.13364A>T (p.Tyr4455Phe) c.13433A>T (p.Tyr4478Phe) c.10133A>T (p.Tyr3378Phe) c.13844A>T (p.Tyr4615Phe) c.13367A>T (p.Tyr4456Phe) c.13391A>T (p.Tyr4464Phe) c.13445A>T (p.Tyr4482Phe) c.13337A>T (p.Tyr4446Phe) c.13514A>T (p.Tyr4505Phe) c.13502A>T (p.Tyr4501Phe) c.13859A>T (p.Tyr4620Phe) c.13460A>T (p.Tyr4487Phe) c.13448A>T (p.Tyr4483Phe) c.13406A>T (p.Tyr4469Phe) c.13382A>T (p.Tyr4461Phe) c.13352A>T (p.Tyr4451Phe) c.13529A>T (p.Tyr4510Phe) c.13379A>T (p.Tyr4460Phe) c.10079A>T (p.Tyr3360Phe) | |
| 8 | g.143916388T>C | CA372474475 | PLEC | c.13565A>G (p.Tyr4522Cys) c.13484A>G (p.Tyr4495Cys) c.13151A>G (p.Tyr4384Cys) c.13364A>G (p.Tyr4455Cys) c.13433A>G (p.Tyr4478Cys) c.10133A>G (p.Tyr3378Cys) c.13844A>G (p.Tyr4615Cys) c.13367A>G (p.Tyr4456Cys) c.13391A>G (p.Tyr4464Cys) c.13445A>G (p.Tyr4482Cys) c.13337A>G (p.Tyr4446Cys) c.13514A>G (p.Tyr4505Cys) c.13502A>G (p.Tyr4501Cys) c.13859A>G (p.Tyr4620Cys) c.13460A>G (p.Tyr4487Cys) c.13448A>G (p.Tyr4483Cys) c.13406A>G (p.Tyr4469Cys) c.13382A>G (p.Tyr4461Cys) c.13352A>G (p.Tyr4451Cys) c.13529A>G (p.Tyr4510Cys) c.13379A>G (p.Tyr4460Cys) c.10079A>G (p.Tyr3360Cys) | gnomAD v4 |
| 8 | g.143916388T>G | CA372474477 | PLEC | c.13565A>C (p.Tyr4522Ser) c.13484A>C (p.Tyr4495Ser) c.13151A>C (p.Tyr4384Ser) c.13364A>C (p.Tyr4455Ser) c.13433A>C (p.Tyr4478Ser) c.10133A>C (p.Tyr3378Ser) c.13844A>C (p.Tyr4615Ser) c.13367A>C (p.Tyr4456Ser) c.13391A>C (p.Tyr4464Ser) c.13445A>C (p.Tyr4482Ser) c.13337A>C (p.Tyr4446Ser) c.13514A>C (p.Tyr4505Ser) c.13502A>C (p.Tyr4501Ser) c.13859A>C (p.Tyr4620Ser) c.13460A>C (p.Tyr4487Ser) c.13448A>C (p.Tyr4483Ser) c.13406A>C (p.Tyr4469Ser) c.13382A>C (p.Tyr4461Ser) c.13352A>C (p.Tyr4451Ser) c.13529A>C (p.Tyr4510Ser) c.13379A>C (p.Tyr4460Ser) c.10079A>C (p.Tyr3360Ser) | |
| 8 | g.143916389A>C | CA372474479 | PLEC | c.13564T>G (p.Tyr4522Asp) c.13483T>G (p.Tyr4495Asp) c.13150T>G (p.Tyr4384Asp) c.13363T>G (p.Tyr4455Asp) c.13432T>G (p.Tyr4478Asp) c.10132T>G (p.Tyr3378Asp) c.13843T>G (p.Tyr4615Asp) c.13366T>G (p.Tyr4456Asp) c.13390T>G (p.Tyr4464Asp) c.13444T>G (p.Tyr4482Asp) c.13336T>G (p.Tyr4446Asp) c.13513T>G (p.Tyr4505Asp) c.13501T>G (p.Tyr4501Asp) c.13858T>G (p.Tyr4620Asp) c.13459T>G (p.Tyr4487Asp) c.13447T>G (p.Tyr4483Asp) c.13405T>G (p.Tyr4469Asp) c.13381T>G (p.Tyr4461Asp) c.13351T>G (p.Tyr4451Asp) c.13528T>G (p.Tyr4510Asp) c.13378T>G (p.Tyr4460Asp) c.10078T>G (p.Tyr3360Asp) | |
| 8 | g.143916389A>G | CA372474482 | PLEC | c.13564T>C (p.Tyr4522His) c.13483T>C (p.Tyr4495His) c.13150T>C (p.Tyr4384His) c.13363T>C (p.Tyr4455His) c.13432T>C (p.Tyr4478His) c.10132T>C (p.Tyr3378His) c.13843T>C (p.Tyr4615His) c.13366T>C (p.Tyr4456His) c.13390T>C (p.Tyr4464His) c.13444T>C (p.Tyr4482His) c.13336T>C (p.Tyr4446His) c.13513T>C (p.Tyr4505His) c.13501T>C (p.Tyr4501His) c.13858T>C (p.Tyr4620His) c.13459T>C (p.Tyr4487His) c.13447T>C (p.Tyr4483His) c.13405T>C (p.Tyr4469His) c.13381T>C (p.Tyr4461His) c.13351T>C (p.Tyr4451His) c.13528T>C (p.Tyr4510His) c.13378T>C (p.Tyr4460His) c.10078T>C (p.Tyr3360His) | |
| 8 | g.143916389A>T | CA372474480 | PLEC | c.13564T>A (p.Tyr4522Asn) c.13483T>A (p.Tyr4495Asn) c.13150T>A (p.Tyr4384Asn) c.13363T>A (p.Tyr4455Asn) c.13432T>A (p.Tyr4478Asn) c.10132T>A (p.Tyr3378Asn) c.13843T>A (p.Tyr4615Asn) c.13366T>A (p.Tyr4456Asn) c.13390T>A (p.Tyr4464Asn) c.13444T>A (p.Tyr4482Asn) c.13336T>A (p.Tyr4446Asn) c.13513T>A (p.Tyr4505Asn) c.13501T>A (p.Tyr4501Asn) c.13858T>A (p.Tyr4620Asn) c.13459T>A (p.Tyr4487Asn) c.13447T>A (p.Tyr4483Asn) c.13405T>A (p.Tyr4469Asn) c.13381T>A (p.Tyr4461Asn) c.13351T>A (p.Tyr4451Asn) c.13528T>A (p.Tyr4510Asn) c.13378T>A (p.Tyr4460Asn) c.10078T>A (p.Tyr3360Asn) | |
| 8 | g.143916390G>A | CA463526344 | PLEC | c.13563C>T (p.Pro4521=) c.13482C>T (p.Pro4494=) c.13149C>T (p.Pro4383=) c.13362C>T (p.Pro4454=) c.13431C>T (p.Pro4477=) c.10131C>T (p.Pro3377=) c.13842C>T (p.Pro4614=) c.13365C>T (p.Pro4455=) c.13389C>T (p.Pro4463=) c.13443C>T (p.Pro4481=) c.13335C>T (p.Pro4445=) c.13512C>T (p.Pro4504=) c.13500C>T (p.Pro4500=) c.13857C>T (p.Pro4619=) c.13458C>T (p.Pro4486=) c.13446C>T (p.Pro4482=) c.13404C>T (p.Pro4468=) c.13380C>T (p.Pro4460=) c.13350C>T (p.Pro4450=) c.13527C>T (p.Pro4509=) c.13377C>T (p.Pro4459=) c.10077C>T (p.Pro3359=) | dbSNP gnomAD v4 |
| 8 | g.143916390G>C | CA463526345 | PLEC | c.13563C>G (p.Pro4521=) c.13482C>G (p.Pro4494=) c.13149C>G (p.Pro4383=) c.13362C>G (p.Pro4454=) c.13431C>G (p.Pro4477=) c.10131C>G (p.Pro3377=) c.13842C>G (p.Pro4614=) c.13365C>G (p.Pro4455=) c.13389C>G (p.Pro4463=) c.13443C>G (p.Pro4481=) c.13335C>G (p.Pro4445=) c.13512C>G (p.Pro4504=) c.13500C>G (p.Pro4500=) c.13857C>G (p.Pro4619=) c.13458C>G (p.Pro4486=) c.13446C>G (p.Pro4482=) c.13404C>G (p.Pro4468=) c.13380C>G (p.Pro4460=) c.13350C>G (p.Pro4450=) c.13527C>G (p.Pro4509=) c.13377C>G (p.Pro4459=) c.10077C>G (p.Pro3359=) | ClinVar gnomAD v4 |
| 8 | g.143916390G= | CA1826037091 | PLEC | c.13563C= (p.Pro4521=) c.13482C= (p.Pro4494=) c.13149C= (p.Pro4383=) c.13362C= (p.Pro4454=) c.13431C= (p.Pro4477=) c.10131C= (p.Pro3377=) c.13842C= (p.Pro4614=) c.13365C= (p.Pro4455=) c.13389C= (p.Pro4463=) c.13443C= (p.Pro4481=) c.13335C= (p.Pro4445=) c.13512C= (p.Pro4504=) c.13500C= (p.Pro4500=) c.13857C= (p.Pro4619=) c.13458C= (p.Pro4486=) c.13446C= (p.Pro4482=) c.13404C= (p.Pro4468=) c.13380C= (p.Pro4460=) c.13350C= (p.Pro4450=) c.13527C= (p.Pro4509=) c.13377C= (p.Pro4459=) c.10077C= (p.Pro3359=) | |
| 8 | g.143916390G>T | CA463526346 | PLEC | c.13563C>A (p.Pro4521=) c.13482C>A (p.Pro4494=) c.13149C>A (p.Pro4383=) c.13362C>A (p.Pro4454=) c.13431C>A (p.Pro4477=) c.10131C>A (p.Pro3377=) c.13842C>A (p.Pro4614=) c.13365C>A (p.Pro4455=) c.13389C>A (p.Pro4463=) c.13443C>A (p.Pro4481=) c.13335C>A (p.Pro4445=) c.13512C>A (p.Pro4504=) c.13500C>A (p.Pro4500=) c.13857C>A (p.Pro4619=) c.13458C>A (p.Pro4486=) c.13446C>A (p.Pro4482=) c.13404C>A (p.Pro4468=) c.13380C>A (p.Pro4460=) c.13350C>A (p.Pro4450=) c.13527C>A (p.Pro4509=) c.13377C>A (p.Pro4459=) c.10077C>A (p.Pro3359=) | gnomAD v4 |
| 8 | g.143916391G>A | CA372474483 | PLEC | c.13562C>T (p.Pro4521Leu) c.13481C>T (p.Pro4494Leu) c.13148C>T (p.Pro4383Leu) c.13361C>T (p.Pro4454Leu) c.13430C>T (p.Pro4477Leu) c.10130C>T (p.Pro3377Leu) c.13841C>T (p.Pro4614Leu) c.13364C>T (p.Pro4455Leu) c.13388C>T (p.Pro4463Leu) c.13442C>T (p.Pro4481Leu) c.13334C>T (p.Pro4445Leu) c.13511C>T (p.Pro4504Leu) c.13499C>T (p.Pro4500Leu) c.13856C>T (p.Pro4619Leu) c.13457C>T (p.Pro4486Leu) c.13445C>T (p.Pro4482Leu) c.13403C>T (p.Pro4468Leu) c.13379C>T (p.Pro4460Leu) c.13349C>T (p.Pro4450Leu) c.13526C>T (p.Pro4509Leu) c.13376C>T (p.Pro4459Leu) c.10076C>T (p.Pro3359Leu) | |
| 8 | g.143916391G>C | CA372474485 | PLEC | c.13562C>G (p.Pro4521Arg) c.13481C>G (p.Pro4494Arg) c.13148C>G (p.Pro4383Arg) c.13361C>G (p.Pro4454Arg) c.13430C>G (p.Pro4477Arg) c.10130C>G (p.Pro3377Arg) c.13841C>G (p.Pro4614Arg) c.13364C>G (p.Pro4455Arg) c.13388C>G (p.Pro4463Arg) c.13442C>G (p.Pro4481Arg) c.13334C>G (p.Pro4445Arg) c.13511C>G (p.Pro4504Arg) c.13499C>G (p.Pro4500Arg) c.13856C>G (p.Pro4619Arg) c.13457C>G (p.Pro4486Arg) c.13445C>G (p.Pro4482Arg) c.13403C>G (p.Pro4468Arg) c.13379C>G (p.Pro4460Arg) c.13349C>G (p.Pro4450Arg) c.13526C>G (p.Pro4509Arg) c.13376C>G (p.Pro4459Arg) c.10076C>G (p.Pro3359Arg) | |
| 8 | g.143916391G>T | CA372474486 | PLEC | c.13562C>A (p.Pro4521His) c.13481C>A (p.Pro4494His) c.13148C>A (p.Pro4383His) c.13361C>A (p.Pro4454His) c.13430C>A (p.Pro4477His) c.10130C>A (p.Pro3377His) c.13841C>A (p.Pro4614His) c.13364C>A (p.Pro4455His) c.13388C>A (p.Pro4463His) c.13442C>A (p.Pro4481His) c.13334C>A (p.Pro4445His) c.13511C>A (p.Pro4504His) c.13499C>A (p.Pro4500His) c.13856C>A (p.Pro4619His) c.13457C>A (p.Pro4486His) c.13445C>A (p.Pro4482His) c.13403C>A (p.Pro4468His) c.13379C>A (p.Pro4460His) c.13349C>A (p.Pro4450His) c.13526C>A (p.Pro4509His) c.13376C>A (p.Pro4459His) c.10076C>A (p.Pro3359His) | gnomAD v4 |
| 8 | g.143916392G>A | CA372474489 | PLEC | c.13561C>T (p.Pro4521Ser) c.13480C>T (p.Pro4494Ser) c.13147C>T (p.Pro4383Ser) c.13360C>T (p.Pro4454Ser) c.13429C>T (p.Pro4477Ser) c.10129C>T (p.Pro3377Ser) c.13840C>T (p.Pro4614Ser) c.13363C>T (p.Pro4455Ser) c.13387C>T (p.Pro4463Ser) c.13441C>T (p.Pro4481Ser) c.13333C>T (p.Pro4445Ser) c.13510C>T (p.Pro4504Ser) c.13498C>T (p.Pro4500Ser) c.13855C>T (p.Pro4619Ser) c.13456C>T (p.Pro4486Ser) c.13444C>T (p.Pro4482Ser) c.13402C>T (p.Pro4468Ser) c.13378C>T (p.Pro4460Ser) c.13348C>T (p.Pro4450Ser) c.13525C>T (p.Pro4509Ser) c.13375C>T (p.Pro4459Ser) c.10075C>T (p.Pro3359Ser) | COSMIC |
| 8 | g.143916392G>C | CA372474491 | PLEC | c.13561C>G (p.Pro4521Ala) c.13480C>G (p.Pro4494Ala) c.13147C>G (p.Pro4383Ala) c.13360C>G (p.Pro4454Ala) c.13429C>G (p.Pro4477Ala) c.10129C>G (p.Pro3377Ala) c.13840C>G (p.Pro4614Ala) c.13363C>G (p.Pro4455Ala) c.13387C>G (p.Pro4463Ala) c.13441C>G (p.Pro4481Ala) c.13333C>G (p.Pro4445Ala) c.13510C>G (p.Pro4504Ala) c.13498C>G (p.Pro4500Ala) c.13855C>G (p.Pro4619Ala) c.13456C>G (p.Pro4486Ala) c.13444C>G (p.Pro4482Ala) c.13402C>G (p.Pro4468Ala) c.13378C>G (p.Pro4460Ala) c.13348C>G (p.Pro4450Ala) c.13525C>G (p.Pro4509Ala) c.13375C>G (p.Pro4459Ala) c.10075C>G (p.Pro3359Ala) | |
| 8 | g.143916392G>T | CA372474492 | PLEC | c.13561C>A (p.Pro4521Thr) c.13480C>A (p.Pro4494Thr) c.13147C>A (p.Pro4383Thr) c.13360C>A (p.Pro4454Thr) c.13429C>A (p.Pro4477Thr) c.10129C>A (p.Pro3377Thr) c.13840C>A (p.Pro4614Thr) c.13363C>A (p.Pro4455Thr) c.13387C>A (p.Pro4463Thr) c.13441C>A (p.Pro4481Thr) c.13333C>A (p.Pro4445Thr) c.13510C>A (p.Pro4504Thr) c.13498C>A (p.Pro4500Thr) c.13855C>A (p.Pro4619Thr) c.13456C>A (p.Pro4486Thr) c.13444C>A (p.Pro4482Thr) c.13402C>A (p.Pro4468Thr) c.13378C>A (p.Pro4460Thr) c.13348C>A (p.Pro4450Thr) c.13525C>A (p.Pro4509Thr) c.13375C>A (p.Pro4459Thr) c.10075C>A (p.Pro3359Thr) | |
| 8 | g.143916393G>A | CA4923810 | PLEC | c.13560C>T (p.Ser4520=) c.13479C>T (p.Ser4493=) c.13146C>T (p.Ser4382=) c.13359C>T (p.Ser4453=) c.13428C>T (p.Ser4476=) c.10128C>T (p.Ser3376=) c.13839C>T (p.Ser4613=) c.13362C>T (p.Ser4454=) c.13386C>T (p.Ser4462=) c.13440C>T (p.Ser4480=) c.13332C>T (p.Ser4444=) c.13509C>T (p.Ser4503=) c.13497C>T (p.Ser4499=) c.13854C>T (p.Ser4618=) c.13455C>T (p.Ser4485=) c.13443C>T (p.Ser4481=) c.13401C>T (p.Ser4467=) c.13377C>T (p.Ser4459=) c.13347C>T (p.Ser4449=) c.13524C>T (p.Ser4508=) c.13374C>T (p.Ser4458=) c.10074C>T (p.Ser3358=) | dbSNP ExAC gnomAD v2 |
| 8 | g.143916393G>C | CA372474494 | PLEC | c.13560C>G (p.Ser4520Arg) c.13479C>G (p.Ser4493Arg) c.13146C>G (p.Ser4382Arg) c.13359C>G (p.Ser4453Arg) c.13428C>G (p.Ser4476Arg) c.10128C>G (p.Ser3376Arg) c.13839C>G (p.Ser4613Arg) c.13362C>G (p.Ser4454Arg) c.13386C>G (p.Ser4462Arg) c.13440C>G (p.Ser4480Arg) c.13332C>G (p.Ser4444Arg) c.13509C>G (p.Ser4503Arg) c.13497C>G (p.Ser4499Arg) c.13854C>G (p.Ser4618Arg) c.13455C>G (p.Ser4485Arg) c.13443C>G (p.Ser4481Arg) c.13401C>G (p.Ser4467Arg) c.13377C>G (p.Ser4459Arg) c.13347C>G (p.Ser4449Arg) c.13524C>G (p.Ser4508Arg) c.13374C>G (p.Ser4458Arg) c.10074C>G (p.Ser3358Arg) | |
| 8 | g.143916393G= | CA1826037093 | PLEC | c.13560C= (p.Ser4520=) c.13479C= (p.Ser4493=) c.13146C= (p.Ser4382=) c.13359C= (p.Ser4453=) c.13428C= (p.Ser4476=) c.10128C= (p.Ser3376=) c.13839C= (p.Ser4613=) c.13362C= (p.Ser4454=) c.13386C= (p.Ser4462=) c.13440C= (p.Ser4480=) c.13332C= (p.Ser4444=) c.13509C= (p.Ser4503=) c.13497C= (p.Ser4499=) c.13854C= (p.Ser4618=) c.13455C= (p.Ser4485=) c.13443C= (p.Ser4481=) c.13401C= (p.Ser4467=) c.13377C= (p.Ser4459=) c.13347C= (p.Ser4449=) c.13524C= (p.Ser4508=) c.13374C= (p.Ser4458=) c.10074C= (p.Ser3358=) | |
| 8 | g.143916393G>T | CA372474496 | PLEC | c.13560C>A (p.Ser4520Arg) c.13479C>A (p.Ser4493Arg) c.13146C>A (p.Ser4382Arg) c.13359C>A (p.Ser4453Arg) c.13428C>A (p.Ser4476Arg) c.10128C>A (p.Ser3376Arg) c.13839C>A (p.Ser4613Arg) c.13362C>A (p.Ser4454Arg) c.13386C>A (p.Ser4462Arg) c.13440C>A (p.Ser4480Arg) c.13332C>A (p.Ser4444Arg) c.13509C>A (p.Ser4503Arg) c.13497C>A (p.Ser4499Arg) c.13854C>A (p.Ser4618Arg) c.13455C>A (p.Ser4485Arg) c.13443C>A (p.Ser4481Arg) c.13401C>A (p.Ser4467Arg) c.13377C>A (p.Ser4459Arg) c.13347C>A (p.Ser4449Arg) c.13524C>A (p.Ser4508Arg) c.13374C>A (p.Ser4458Arg) c.10074C>A (p.Ser3358Arg) | gnomAD v4 |
| 8 | g.143916394C>A | CA372474498 | PLEC | c.13559G>T (p.Ser4520Ile) c.13478G>T (p.Ser4493Ile) c.13145G>T (p.Ser4382Ile) c.13358G>T (p.Ser4453Ile) c.13427G>T (p.Ser4476Ile) c.10127G>T (p.Ser3376Ile) c.13838G>T (p.Ser4613Ile) c.13361G>T (p.Ser4454Ile) c.13385G>T (p.Ser4462Ile) c.13439G>T (p.Ser4480Ile) c.13331G>T (p.Ser4444Ile) c.13508G>T (p.Ser4503Ile) c.13496G>T (p.Ser4499Ile) c.13853G>T (p.Ser4618Ile) c.13454G>T (p.Ser4485Ile) c.13442G>T (p.Ser4481Ile) c.13400G>T (p.Ser4467Ile) c.13376G>T (p.Ser4459Ile) c.13346G>T (p.Ser4449Ile) c.13523G>T (p.Ser4508Ile) c.13373G>T (p.Ser4458Ile) c.10073G>T (p.Ser3358Ile) | ClinVar dbSNP |
| 8 | g.143916394C>G | CA372474500 | PLEC | c.13559G>C (p.Ser4520Thr) c.13478G>C (p.Ser4493Thr) c.13145G>C (p.Ser4382Thr) c.13358G>C (p.Ser4453Thr) c.13427G>C (p.Ser4476Thr) c.10127G>C (p.Ser3376Thr) c.13838G>C (p.Ser4613Thr) c.13361G>C (p.Ser4454Thr) c.13385G>C (p.Ser4462Thr) c.13439G>C (p.Ser4480Thr) c.13331G>C (p.Ser4444Thr) c.13508G>C (p.Ser4503Thr) c.13496G>C (p.Ser4499Thr) c.13853G>C (p.Ser4618Thr) c.13454G>C (p.Ser4485Thr) c.13442G>C (p.Ser4481Thr) c.13400G>C (p.Ser4467Thr) c.13376G>C (p.Ser4459Thr) c.13346G>C (p.Ser4449Thr) c.13523G>C (p.Ser4508Thr) c.13373G>C (p.Ser4458Thr) c.10073G>C (p.Ser3358Thr) | |
| 8 | g.143916394C>T | CA372474501 | PLEC | c.13559G>A (p.Ser4520Asn) c.13478G>A (p.Ser4493Asn) c.13145G>A (p.Ser4382Asn) c.13358G>A (p.Ser4453Asn) c.13427G>A (p.Ser4476Asn) c.10127G>A (p.Ser3376Asn) c.13838G>A (p.Ser4613Asn) c.13361G>A (p.Ser4454Asn) c.13385G>A (p.Ser4462Asn) c.13439G>A (p.Ser4480Asn) c.13331G>A (p.Ser4444Asn) c.13508G>A (p.Ser4503Asn) c.13496G>A (p.Ser4499Asn) c.13853G>A (p.Ser4618Asn) c.13454G>A (p.Ser4485Asn) c.13442G>A (p.Ser4481Asn) c.13400G>A (p.Ser4467Asn) c.13376G>A (p.Ser4459Asn) c.13346G>A (p.Ser4449Asn) c.13523G>A (p.Ser4508Asn) c.13373G>A (p.Ser4458Asn) c.10073G>A (p.Ser3358Asn) | |
| 8 | g.143916395T>A | CA372474505 | PLEC | c.13558A>T (p.Ser4520Cys) c.13477A>T (p.Ser4493Cys) c.13144A>T (p.Ser4382Cys) c.13357A>T (p.Ser4453Cys) c.13426A>T (p.Ser4476Cys) c.10126A>T (p.Ser3376Cys) c.13837A>T (p.Ser4613Cys) c.13360A>T (p.Ser4454Cys) c.13384A>T (p.Ser4462Cys) c.13438A>T (p.Ser4480Cys) c.13330A>T (p.Ser4444Cys) c.13507A>T (p.Ser4503Cys) c.13495A>T (p.Ser4499Cys) c.13852A>T (p.Ser4618Cys) c.13453A>T (p.Ser4485Cys) c.13441A>T (p.Ser4481Cys) c.13399A>T (p.Ser4467Cys) c.13375A>T (p.Ser4459Cys) c.13345A>T (p.Ser4449Cys) c.13522A>T (p.Ser4508Cys) c.13372A>T (p.Ser4458Cys) c.10072A>T (p.Ser3358Cys) | |
| 8 | g.143916395T>C | CA372474507 | PLEC | c.13558A>G (p.Ser4520Gly) c.13477A>G (p.Ser4493Gly) c.13144A>G (p.Ser4382Gly) c.13357A>G (p.Ser4453Gly) c.13426A>G (p.Ser4476Gly) c.10126A>G (p.Ser3376Gly) c.13837A>G (p.Ser4613Gly) c.13360A>G (p.Ser4454Gly) c.13384A>G (p.Ser4462Gly) c.13438A>G (p.Ser4480Gly) c.13330A>G (p.Ser4444Gly) c.13507A>G (p.Ser4503Gly) c.13495A>G (p.Ser4499Gly) c.13852A>G (p.Ser4618Gly) c.13453A>G (p.Ser4485Gly) c.13441A>G (p.Ser4481Gly) c.13399A>G (p.Ser4467Gly) c.13375A>G (p.Ser4459Gly) c.13345A>G (p.Ser4449Gly) c.13522A>G (p.Ser4508Gly) c.13372A>G (p.Ser4458Gly) c.10072A>G (p.Ser3358Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143916395T>G | CA372474503 | PLEC | c.13558A>C (p.Ser4520Arg) c.13477A>C (p.Ser4493Arg) c.13144A>C (p.Ser4382Arg) c.13357A>C (p.Ser4453Arg) c.13426A>C (p.Ser4476Arg) c.10126A>C (p.Ser3376Arg) c.13837A>C (p.Ser4613Arg) c.13360A>C (p.Ser4454Arg) c.13384A>C (p.Ser4462Arg) c.13438A>C (p.Ser4480Arg) c.13330A>C (p.Ser4444Arg) c.13507A>C (p.Ser4503Arg) c.13495A>C (p.Ser4499Arg) c.13852A>C (p.Ser4618Arg) c.13453A>C (p.Ser4485Arg) c.13441A>C (p.Ser4481Arg) c.13399A>C (p.Ser4467Arg) c.13375A>C (p.Ser4459Arg) c.13345A>C (p.Ser4449Arg) c.13522A>C (p.Ser4508Arg) c.13372A>C (p.Ser4458Arg) c.10072A>C (p.Ser3358Arg) | |
| 8 | g.143916395T= | CA1826037096 | PLEC | c.13558A= (p.Ser4520=) c.13477A= (p.Ser4493=) c.13144A= (p.Ser4382=) c.13357A= (p.Ser4453=) c.13426A= (p.Ser4476=) c.10126A= (p.Ser3376=) c.13837A= (p.Ser4613=) c.13360A= (p.Ser4454=) c.13384A= (p.Ser4462=) c.13438A= (p.Ser4480=) c.13330A= (p.Ser4444=) c.13507A= (p.Ser4503=) c.13495A= (p.Ser4499=) c.13852A= (p.Ser4618=) c.13453A= (p.Ser4485=) c.13441A= (p.Ser4481=) c.13399A= (p.Ser4467=) c.13375A= (p.Ser4459=) c.13345A= (p.Ser4449=) c.13522A= (p.Ser4508=) c.13372A= (p.Ser4458=) c.10072A= (p.Ser3358=) | |
| 8 | g.143916396G>A | CA463526368 | PLEC | c.13557C>T (p.Tyr4519=) c.13476C>T (p.Tyr4492=) c.13143C>T (p.Tyr4381=) c.13356C>T (p.Tyr4452=) c.13425C>T (p.Tyr4475=) c.10125C>T (p.Tyr3375=) c.13836C>T (p.Tyr4612=) c.13359C>T (p.Tyr4453=) c.13383C>T (p.Tyr4461=) c.13437C>T (p.Tyr4479=) c.13329C>T (p.Tyr4443=) c.13506C>T (p.Tyr4502=) c.13494C>T (p.Tyr4498=) c.13851C>T (p.Tyr4617=) c.13452C>T (p.Tyr4484=) c.13440C>T (p.Tyr4480=) c.13398C>T (p.Tyr4466=) c.13374C>T (p.Tyr4458=) c.13344C>T (p.Tyr4448=) c.13521C>T (p.Tyr4507=) c.13371C>T (p.Tyr4457=) c.10071C>T (p.Tyr3357=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916396G>C | CA372474511 | PLEC | c.13557C>G (p.Tyr4519Ter) c.13476C>G (p.Tyr4492Ter) c.13143C>G (p.Tyr4381Ter) c.13356C>G (p.Tyr4452Ter) c.13425C>G (p.Tyr4475Ter) c.10125C>G (p.Tyr3375Ter) c.13836C>G (p.Tyr4612Ter) c.13359C>G (p.Tyr4453Ter) c.13383C>G (p.Tyr4461Ter) c.13437C>G (p.Tyr4479Ter) c.13329C>G (p.Tyr4443Ter) c.13506C>G (p.Tyr4502Ter) c.13494C>G (p.Tyr4498Ter) c.13851C>G (p.Tyr4617Ter) c.13452C>G (p.Tyr4484Ter) c.13440C>G (p.Tyr4480Ter) c.13398C>G (p.Tyr4466Ter) c.13374C>G (p.Tyr4458Ter) c.13344C>G (p.Tyr4448Ter) c.13521C>G (p.Tyr4507Ter) c.13371C>G (p.Tyr4457Ter) c.10071C>G (p.Tyr3357Ter) | |
| 8 | g.143916396G= | CA1826037099 | PLEC | c.13557C= (p.Tyr4519=) c.13476C= (p.Tyr4492=) c.13143C= (p.Tyr4381=) c.13356C= (p.Tyr4452=) c.13425C= (p.Tyr4475=) c.10125C= (p.Tyr3375=) c.13836C= (p.Tyr4612=) c.13359C= (p.Tyr4453=) c.13383C= (p.Tyr4461=) c.13437C= (p.Tyr4479=) c.13329C= (p.Tyr4443=) c.13506C= (p.Tyr4502=) c.13494C= (p.Tyr4498=) c.13851C= (p.Tyr4617=) c.13452C= (p.Tyr4484=) c.13440C= (p.Tyr4480=) c.13398C= (p.Tyr4466=) c.13374C= (p.Tyr4458=) c.13344C= (p.Tyr4448=) c.13521C= (p.Tyr4507=) c.13371C= (p.Tyr4457=) c.10071C= (p.Tyr3357=) | |
| 8 | g.143916396G>T | CA372474509 | PLEC | c.13557C>A (p.Tyr4519Ter) c.13476C>A (p.Tyr4492Ter) c.13143C>A (p.Tyr4381Ter) c.13356C>A (p.Tyr4452Ter) c.13425C>A (p.Tyr4475Ter) c.10125C>A (p.Tyr3375Ter) c.13836C>A (p.Tyr4612Ter) c.13359C>A (p.Tyr4453Ter) c.13383C>A (p.Tyr4461Ter) c.13437C>A (p.Tyr4479Ter) c.13329C>A (p.Tyr4443Ter) c.13506C>A (p.Tyr4502Ter) c.13494C>A (p.Tyr4498Ter) c.13851C>A (p.Tyr4617Ter) c.13452C>A (p.Tyr4484Ter) c.13440C>A (p.Tyr4480Ter) c.13398C>A (p.Tyr4466Ter) c.13374C>A (p.Tyr4458Ter) c.13344C>A (p.Tyr4448Ter) c.13521C>A (p.Tyr4507Ter) c.13371C>A (p.Tyr4457Ter) c.10071C>A (p.Tyr3357Ter) | |
| 8 | g.143916397T>A | CA372474517 | PLEC | c.13556A>T (p.Tyr4519Phe) c.13475A>T (p.Tyr4492Phe) c.13142A>T (p.Tyr4381Phe) c.13355A>T (p.Tyr4452Phe) c.13424A>T (p.Tyr4475Phe) c.10124A>T (p.Tyr3375Phe) c.13835A>T (p.Tyr4612Phe) c.13358A>T (p.Tyr4453Phe) c.13382A>T (p.Tyr4461Phe) c.13436A>T (p.Tyr4479Phe) c.13328A>T (p.Tyr4443Phe) c.13505A>T (p.Tyr4502Phe) c.13493A>T (p.Tyr4498Phe) c.13850A>T (p.Tyr4617Phe) c.13451A>T (p.Tyr4484Phe) c.13439A>T (p.Tyr4480Phe) c.13397A>T (p.Tyr4466Phe) c.13373A>T (p.Tyr4458Phe) c.13343A>T (p.Tyr4448Phe) c.13520A>T (p.Tyr4507Phe) c.13370A>T (p.Tyr4457Phe) c.10070A>T (p.Tyr3357Phe) | |
| 8 | g.143916397T>C | CA372474513 | PLEC | c.13556A>G (p.Tyr4519Cys) c.13475A>G (p.Tyr4492Cys) c.13142A>G (p.Tyr4381Cys) c.13355A>G (p.Tyr4452Cys) c.13424A>G (p.Tyr4475Cys) c.10124A>G (p.Tyr3375Cys) c.13835A>G (p.Tyr4612Cys) c.13358A>G (p.Tyr4453Cys) c.13382A>G (p.Tyr4461Cys) c.13436A>G (p.Tyr4479Cys) c.13328A>G (p.Tyr4443Cys) c.13505A>G (p.Tyr4502Cys) c.13493A>G (p.Tyr4498Cys) c.13850A>G (p.Tyr4617Cys) c.13451A>G (p.Tyr4484Cys) c.13439A>G (p.Tyr4480Cys) c.13397A>G (p.Tyr4466Cys) c.13373A>G (p.Tyr4458Cys) c.13343A>G (p.Tyr4448Cys) c.13520A>G (p.Tyr4507Cys) c.13370A>G (p.Tyr4457Cys) c.10070A>G (p.Tyr3357Cys) | |
| 8 | g.143916397T>G | CA372474515 | PLEC | c.13556A>C (p.Tyr4519Ser) c.13475A>C (p.Tyr4492Ser) c.13142A>C (p.Tyr4381Ser) c.13355A>C (p.Tyr4452Ser) c.13424A>C (p.Tyr4475Ser) c.10124A>C (p.Tyr3375Ser) c.13835A>C (p.Tyr4612Ser) c.13358A>C (p.Tyr4453Ser) c.13382A>C (p.Tyr4461Ser) c.13436A>C (p.Tyr4479Ser) c.13328A>C (p.Tyr4443Ser) c.13505A>C (p.Tyr4502Ser) c.13493A>C (p.Tyr4498Ser) c.13850A>C (p.Tyr4617Ser) c.13451A>C (p.Tyr4484Ser) c.13439A>C (p.Tyr4480Ser) c.13397A>C (p.Tyr4466Ser) c.13373A>C (p.Tyr4458Ser) c.13343A>C (p.Tyr4448Ser) c.13520A>C (p.Tyr4507Ser) c.13370A>C (p.Tyr4457Ser) c.10070A>C (p.Tyr3357Ser) | |
| 8 | g.143916398A>C | CA372474518 | PLEC | c.13555T>G (p.Tyr4519Asp) c.13474T>G (p.Tyr4492Asp) c.13141T>G (p.Tyr4381Asp) c.13354T>G (p.Tyr4452Asp) c.13423T>G (p.Tyr4475Asp) c.10123T>G (p.Tyr3375Asp) c.13834T>G (p.Tyr4612Asp) c.13357T>G (p.Tyr4453Asp) c.13381T>G (p.Tyr4461Asp) c.13435T>G (p.Tyr4479Asp) c.13327T>G (p.Tyr4443Asp) c.13504T>G (p.Tyr4502Asp) c.13492T>G (p.Tyr4498Asp) c.13849T>G (p.Tyr4617Asp) c.13450T>G (p.Tyr4484Asp) c.13438T>G (p.Tyr4480Asp) c.13396T>G (p.Tyr4466Asp) c.13372T>G (p.Tyr4458Asp) c.13342T>G (p.Tyr4448Asp) c.13519T>G (p.Tyr4507Asp) c.13369T>G (p.Tyr4457Asp) c.10069T>G (p.Tyr3357Asp) | |
| 8 | g.143916398A>G | CA372474519 | PLEC | c.13555T>C (p.Tyr4519His) c.13474T>C (p.Tyr4492His) c.13141T>C (p.Tyr4381His) c.13354T>C (p.Tyr4452His) c.13423T>C (p.Tyr4475His) c.10123T>C (p.Tyr3375His) c.13834T>C (p.Tyr4612His) c.13357T>C (p.Tyr4453His) c.13381T>C (p.Tyr4461His) c.13435T>C (p.Tyr4479His) c.13327T>C (p.Tyr4443His) c.13504T>C (p.Tyr4502His) c.13492T>C (p.Tyr4498His) c.13849T>C (p.Tyr4617His) c.13450T>C (p.Tyr4484His) c.13438T>C (p.Tyr4480His) c.13396T>C (p.Tyr4466His) c.13372T>C (p.Tyr4458His) c.13342T>C (p.Tyr4448His) c.13519T>C (p.Tyr4507His) c.13369T>C (p.Tyr4457His) c.10069T>C (p.Tyr3357His) | gnomAD v4 |
| 8 | g.143916398A>T | CA372474521 | PLEC | c.13555T>A (p.Tyr4519Asn) c.13474T>A (p.Tyr4492Asn) c.13141T>A (p.Tyr4381Asn) c.13354T>A (p.Tyr4452Asn) c.13423T>A (p.Tyr4475Asn) c.10123T>A (p.Tyr3375Asn) c.13834T>A (p.Tyr4612Asn) c.13357T>A (p.Tyr4453Asn) c.13381T>A (p.Tyr4461Asn) c.13435T>A (p.Tyr4479Asn) c.13327T>A (p.Tyr4443Asn) c.13504T>A (p.Tyr4502Asn) c.13492T>A (p.Tyr4498Asn) c.13849T>A (p.Tyr4617Asn) c.13450T>A (p.Tyr4484Asn) c.13438T>A (p.Tyr4480Asn) c.13396T>A (p.Tyr4466Asn) c.13372T>A (p.Tyr4458Asn) c.13342T>A (p.Tyr4448Asn) c.13519T>A (p.Tyr4507Asn) c.13369T>A (p.Tyr4457Asn) c.10069T>A (p.Tyr3357Asn) | |
| 8 | g.143916399G>A | CA463526384 | PLEC | c.13554C>T (p.Tyr4518=) c.13473C>T (p.Tyr4491=) c.13140C>T (p.Tyr4380=) c.13353C>T (p.Tyr4451=) c.13422C>T (p.Tyr4474=) c.10122C>T (p.Tyr3374=) c.13833C>T (p.Tyr4611=) c.13356C>T (p.Tyr4452=) c.13380C>T (p.Tyr4460=) c.13434C>T (p.Tyr4478=) c.13326C>T (p.Tyr4442=) c.13503C>T (p.Tyr4501=) c.13491C>T (p.Tyr4497=) c.13848C>T (p.Tyr4616=) c.13449C>T (p.Tyr4483=) c.13437C>T (p.Tyr4479=) c.13395C>T (p.Tyr4465=) c.13371C>T (p.Tyr4457=) c.13341C>T (p.Tyr4447=) c.13518C>T (p.Tyr4506=) c.13368C>T (p.Tyr4456=) c.10068C>T (p.Tyr3356=) | |
| 8 | g.143916399G>C | CA4923811 | PLEC | c.13554C>G (p.Tyr4518Ter) c.13473C>G (p.Tyr4491Ter) c.13140C>G (p.Tyr4380Ter) c.13353C>G (p.Tyr4451Ter) c.13422C>G (p.Tyr4474Ter) c.10122C>G (p.Tyr3374Ter) c.13833C>G (p.Tyr4611Ter) c.13356C>G (p.Tyr4452Ter) c.13380C>G (p.Tyr4460Ter) c.13434C>G (p.Tyr4478Ter) c.13326C>G (p.Tyr4442Ter) c.13503C>G (p.Tyr4501Ter) c.13491C>G (p.Tyr4497Ter) c.13848C>G (p.Tyr4616Ter) c.13449C>G (p.Tyr4483Ter) c.13437C>G (p.Tyr4479Ter) c.13395C>G (p.Tyr4465Ter) c.13371C>G (p.Tyr4457Ter) c.13341C>G (p.Tyr4447Ter) c.13518C>G (p.Tyr4506Ter) c.13368C>G (p.Tyr4456Ter) c.10068C>G (p.Tyr3356Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143916399G= | CA1826037101 | PLEC | c.13554C= (p.Tyr4518=) c.13473C= (p.Tyr4491=) c.13140C= (p.Tyr4380=) c.13353C= (p.Tyr4451=) c.13422C= (p.Tyr4474=) c.10122C= (p.Tyr3374=) c.13833C= (p.Tyr4611=) c.13356C= (p.Tyr4452=) c.13380C= (p.Tyr4460=) c.13434C= (p.Tyr4478=) c.13326C= (p.Tyr4442=) c.13503C= (p.Tyr4501=) c.13491C= (p.Tyr4497=) c.13848C= (p.Tyr4616=) c.13449C= (p.Tyr4483=) c.13437C= (p.Tyr4479=) c.13395C= (p.Tyr4465=) c.13371C= (p.Tyr4457=) c.13341C= (p.Tyr4447=) c.13518C= (p.Tyr4506=) c.13368C= (p.Tyr4456=) c.10068C= (p.Tyr3356=) | |
| 8 | g.143916399G>T | CA372474524 | PLEC | c.13554C>A (p.Tyr4518Ter) c.13473C>A (p.Tyr4491Ter) c.13140C>A (p.Tyr4380Ter) c.13353C>A (p.Tyr4451Ter) c.13422C>A (p.Tyr4474Ter) c.10122C>A (p.Tyr3374Ter) c.13833C>A (p.Tyr4611Ter) c.13356C>A (p.Tyr4452Ter) c.13380C>A (p.Tyr4460Ter) c.13434C>A (p.Tyr4478Ter) c.13326C>A (p.Tyr4442Ter) c.13503C>A (p.Tyr4501Ter) c.13491C>A (p.Tyr4497Ter) c.13848C>A (p.Tyr4616Ter) c.13449C>A (p.Tyr4483Ter) c.13437C>A (p.Tyr4479Ter) c.13395C>A (p.Tyr4465Ter) c.13371C>A (p.Tyr4457Ter) c.13341C>A (p.Tyr4447Ter) c.13518C>A (p.Tyr4506Ter) c.13368C>A (p.Tyr4456Ter) c.10068C>A (p.Tyr3356Ter) | |
| 8 | g.143916400T>A | CA372474526 | PLEC | c.13553A>T (p.Tyr4518Phe) c.13472A>T (p.Tyr4491Phe) c.13139A>T (p.Tyr4380Phe) c.13352A>T (p.Tyr4451Phe) c.13421A>T (p.Tyr4474Phe) c.10121A>T (p.Tyr3374Phe) c.13832A>T (p.Tyr4611Phe) c.13355A>T (p.Tyr4452Phe) c.13379A>T (p.Tyr4460Phe) c.13433A>T (p.Tyr4478Phe) c.13325A>T (p.Tyr4442Phe) c.13502A>T (p.Tyr4501Phe) c.13490A>T (p.Tyr4497Phe) c.13847A>T (p.Tyr4616Phe) c.13448A>T (p.Tyr4483Phe) c.13436A>T (p.Tyr4479Phe) c.13394A>T (p.Tyr4465Phe) c.13370A>T (p.Tyr4457Phe) c.13340A>T (p.Tyr4447Phe) c.13517A>T (p.Tyr4506Phe) c.13367A>T (p.Tyr4456Phe) c.10067A>T (p.Tyr3356Phe) | |
| 8 | g.143916400T>C | CA372474528 | PLEC | c.13553A>G (p.Tyr4518Cys) c.13472A>G (p.Tyr4491Cys) c.13139A>G (p.Tyr4380Cys) c.13352A>G (p.Tyr4451Cys) c.13421A>G (p.Tyr4474Cys) c.10121A>G (p.Tyr3374Cys) c.13832A>G (p.Tyr4611Cys) c.13355A>G (p.Tyr4452Cys) c.13379A>G (p.Tyr4460Cys) c.13433A>G (p.Tyr4478Cys) c.13325A>G (p.Tyr4442Cys) c.13502A>G (p.Tyr4501Cys) c.13490A>G (p.Tyr4497Cys) c.13847A>G (p.Tyr4616Cys) c.13448A>G (p.Tyr4483Cys) c.13436A>G (p.Tyr4479Cys) c.13394A>G (p.Tyr4465Cys) c.13370A>G (p.Tyr4457Cys) c.13340A>G (p.Tyr4447Cys) c.13517A>G (p.Tyr4506Cys) c.13367A>G (p.Tyr4456Cys) c.10067A>G (p.Tyr3356Cys) | |
| 8 | g.143916400T>G | CA4923812 | PLEC | c.13553A>C (p.Tyr4518Ser) c.13472A>C (p.Tyr4491Ser) c.13139A>C (p.Tyr4380Ser) c.13352A>C (p.Tyr4451Ser) c.13421A>C (p.Tyr4474Ser) c.10121A>C (p.Tyr3374Ser) c.13832A>C (p.Tyr4611Ser) c.13355A>C (p.Tyr4452Ser) c.13379A>C (p.Tyr4460Ser) c.13433A>C (p.Tyr4478Ser) c.13325A>C (p.Tyr4442Ser) c.13502A>C (p.Tyr4501Ser) c.13490A>C (p.Tyr4497Ser) c.13847A>C (p.Tyr4616Ser) c.13448A>C (p.Tyr4483Ser) c.13436A>C (p.Tyr4479Ser) c.13394A>C (p.Tyr4465Ser) c.13370A>C (p.Tyr4457Ser) c.13340A>C (p.Tyr4447Ser) c.13517A>C (p.Tyr4506Ser) c.13367A>C (p.Tyr4456Ser) c.10067A>C (p.Tyr3356Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143916400T= | CA1826037103 | PLEC | c.13553A= (p.Tyr4518=) c.13472A= (p.Tyr4491=) c.13139A= (p.Tyr4380=) c.13352A= (p.Tyr4451=) c.13421A= (p.Tyr4474=) c.10121A= (p.Tyr3374=) c.13832A= (p.Tyr4611=) c.13355A= (p.Tyr4452=) c.13379A= (p.Tyr4460=) c.13433A= (p.Tyr4478=) c.13325A= (p.Tyr4442=) c.13502A= (p.Tyr4501=) c.13490A= (p.Tyr4497=) c.13847A= (p.Tyr4616=) c.13448A= (p.Tyr4483=) c.13436A= (p.Tyr4479=) c.13394A= (p.Tyr4465=) c.13370A= (p.Tyr4457=) c.13340A= (p.Tyr4447=) c.13517A= (p.Tyr4506=) c.13367A= (p.Tyr4456=) c.10067A= (p.Tyr3356=) | |
| 8 | g.143916401A>C | CA372474531 | PLEC | c.13552T>G (p.Tyr4518Asp) c.13471T>G (p.Tyr4491Asp) c.13138T>G (p.Tyr4380Asp) c.13351T>G (p.Tyr4451Asp) c.13420T>G (p.Tyr4474Asp) c.10120T>G (p.Tyr3374Asp) c.13831T>G (p.Tyr4611Asp) c.13354T>G (p.Tyr4452Asp) c.13378T>G (p.Tyr4460Asp) c.13432T>G (p.Tyr4478Asp) c.13324T>G (p.Tyr4442Asp) c.13501T>G (p.Tyr4501Asp) c.13489T>G (p.Tyr4497Asp) c.13846T>G (p.Tyr4616Asp) c.13447T>G (p.Tyr4483Asp) c.13435T>G (p.Tyr4479Asp) c.13393T>G (p.Tyr4465Asp) c.13369T>G (p.Tyr4457Asp) c.13339T>G (p.Tyr4447Asp) c.13516T>G (p.Tyr4506Asp) c.13366T>G (p.Tyr4456Asp) c.10066T>G (p.Tyr3356Asp) | |
| 8 | g.143916401A>G | CA372474533 | PLEC | c.13552T>C (p.Tyr4518His) c.13471T>C (p.Tyr4491His) c.13138T>C (p.Tyr4380His) c.13351T>C (p.Tyr4451His) c.13420T>C (p.Tyr4474His) c.10120T>C (p.Tyr3374His) c.13831T>C (p.Tyr4611His) c.13354T>C (p.Tyr4452His) c.13378T>C (p.Tyr4460His) c.13432T>C (p.Tyr4478His) c.13324T>C (p.Tyr4442His) c.13501T>C (p.Tyr4501His) c.13489T>C (p.Tyr4497His) c.13846T>C (p.Tyr4616His) c.13447T>C (p.Tyr4483His) c.13435T>C (p.Tyr4479His) c.13393T>C (p.Tyr4465His) c.13369T>C (p.Tyr4457His) c.13339T>C (p.Tyr4447His) c.13516T>C (p.Tyr4506His) c.13366T>C (p.Tyr4456His) c.10066T>C (p.Tyr3356His) | |
| 8 | g.143916401A>T | CA372474535 | PLEC | c.13552T>A (p.Tyr4518Asn) c.13471T>A (p.Tyr4491Asn) c.13138T>A (p.Tyr4380Asn) c.13351T>A (p.Tyr4451Asn) c.13420T>A (p.Tyr4474Asn) c.10120T>A (p.Tyr3374Asn) c.13831T>A (p.Tyr4611Asn) c.13354T>A (p.Tyr4452Asn) c.13378T>A (p.Tyr4460Asn) c.13432T>A (p.Tyr4478Asn) c.13324T>A (p.Tyr4442Asn) c.13501T>A (p.Tyr4501Asn) c.13489T>A (p.Tyr4497Asn) c.13846T>A (p.Tyr4616Asn) c.13447T>A (p.Tyr4483Asn) c.13435T>A (p.Tyr4479Asn) c.13393T>A (p.Tyr4465Asn) c.13369T>A (p.Tyr4457Asn) c.13339T>A (p.Tyr4447Asn) c.13516T>A (p.Tyr4506Asn) c.13366T>A (p.Tyr4456Asn) c.10066T>A (p.Tyr3356Asn) | |
| 8 | g.143916402G>A | CA463526393 | PLEC | c.13551C>T (p.Gly4517=) c.13470C>T (p.Gly4490=) c.13137C>T (p.Gly4379=) c.13350C>T (p.Gly4450=) c.13419C>T (p.Gly4473=) c.10119C>T (p.Gly3373=) c.13830C>T (p.Gly4610=) c.13353C>T (p.Gly4451=) c.13377C>T (p.Gly4459=) c.13431C>T (p.Gly4477=) c.13323C>T (p.Gly4441=) c.13500C>T (p.Gly4500=) c.13488C>T (p.Gly4496=) c.13845C>T (p.Gly4615=) c.13446C>T (p.Gly4482=) c.13434C>T (p.Gly4478=) c.13392C>T (p.Gly4464=) c.13368C>T (p.Gly4456=) c.13338C>T (p.Gly4446=) c.13515C>T (p.Gly4505=) c.13365C>T (p.Gly4455=) c.10065C>T (p.Gly3355=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143916402G>C | CA463526394 | PLEC | c.13551C>G (p.Gly4517=) c.13470C>G (p.Gly4490=) c.13137C>G (p.Gly4379=) c.13350C>G (p.Gly4450=) c.13419C>G (p.Gly4473=) c.10119C>G (p.Gly3373=) c.13830C>G (p.Gly4610=) c.13353C>G (p.Gly4451=) c.13377C>G (p.Gly4459=) c.13431C>G (p.Gly4477=) c.13323C>G (p.Gly4441=) c.13500C>G (p.Gly4500=) c.13488C>G (p.Gly4496=) c.13845C>G (p.Gly4615=) c.13446C>G (p.Gly4482=) c.13434C>G (p.Gly4478=) c.13392C>G (p.Gly4464=) c.13368C>G (p.Gly4456=) c.13338C>G (p.Gly4446=) c.13515C>G (p.Gly4505=) c.13365C>G (p.Gly4455=) c.10065C>G (p.Gly3355=) | |
| 8 | g.143916402G= | CA1826037105 | PLEC | c.13551C= (p.Gly4517=) c.13470C= (p.Gly4490=) c.13137C= (p.Gly4379=) c.13350C= (p.Gly4450=) c.13419C= (p.Gly4473=) c.10119C= (p.Gly3373=) c.13830C= (p.Gly4610=) c.13353C= (p.Gly4451=) c.13377C= (p.Gly4459=) c.13431C= (p.Gly4477=) c.13323C= (p.Gly4441=) c.13500C= (p.Gly4500=) c.13488C= (p.Gly4496=) c.13845C= (p.Gly4615=) c.13446C= (p.Gly4482=) c.13434C= (p.Gly4478=) c.13392C= (p.Gly4464=) c.13368C= (p.Gly4456=) c.13338C= (p.Gly4446=) c.13515C= (p.Gly4505=) c.13365C= (p.Gly4455=) c.10065C= (p.Gly3355=) | |
| 8 | g.143916402G>T | CA463526395 | PLEC | c.13551C>A (p.Gly4517=) c.13470C>A (p.Gly4490=) c.13137C>A (p.Gly4379=) c.13350C>A (p.Gly4450=) c.13419C>A (p.Gly4473=) c.10119C>A (p.Gly3373=) c.13830C>A (p.Gly4610=) c.13353C>A (p.Gly4451=) c.13377C>A (p.Gly4459=) c.13431C>A (p.Gly4477=) c.13323C>A (p.Gly4441=) c.13500C>A (p.Gly4500=) c.13488C>A (p.Gly4496=) c.13845C>A (p.Gly4615=) c.13446C>A (p.Gly4482=) c.13434C>A (p.Gly4478=) c.13392C>A (p.Gly4464=) c.13368C>A (p.Gly4456=) c.13338C>A (p.Gly4446=) c.13515C>A (p.Gly4505=) c.13365C>A (p.Gly4455=) c.10065C>A (p.Gly3355=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143916403C>A | CA372474541 | PLEC | c.13550G>T (p.Gly4517Val) c.13469G>T (p.Gly4490Val) c.13136G>T (p.Gly4379Val) c.13349G>T (p.Gly4450Val) c.13418G>T (p.Gly4473Val) c.10118G>T (p.Gly3373Val) c.13829G>T (p.Gly4610Val) c.13352G>T (p.Gly4451Val) c.13376G>T (p.Gly4459Val) c.13430G>T (p.Gly4477Val) c.13322G>T (p.Gly4441Val) c.13499G>T (p.Gly4500Val) c.13487G>T (p.Gly4496Val) c.13844G>T (p.Gly4615Val) c.13445G>T (p.Gly4482Val) c.13433G>T (p.Gly4478Val) c.13391G>T (p.Gly4464Val) c.13367G>T (p.Gly4456Val) c.13337G>T (p.Gly4446Val) c.13514G>T (p.Gly4505Val) c.13364G>T (p.Gly4455Val) c.10064G>T (p.Gly3355Val) | |
| 8 | g.143916403C>G | CA372474537 | PLEC | c.13550G>C (p.Gly4517Ala) c.13469G>C (p.Gly4490Ala) c.13136G>C (p.Gly4379Ala) c.13349G>C (p.Gly4450Ala) c.13418G>C (p.Gly4473Ala) c.10118G>C (p.Gly3373Ala) c.13829G>C (p.Gly4610Ala) c.13352G>C (p.Gly4451Ala) c.13376G>C (p.Gly4459Ala) c.13430G>C (p.Gly4477Ala) c.13322G>C (p.Gly4441Ala) c.13499G>C (p.Gly4500Ala) c.13487G>C (p.Gly4496Ala) c.13844G>C (p.Gly4615Ala) c.13445G>C (p.Gly4482Ala) c.13433G>C (p.Gly4478Ala) c.13391G>C (p.Gly4464Ala) c.13367G>C (p.Gly4456Ala) c.13337G>C (p.Gly4446Ala) c.13514G>C (p.Gly4505Ala) c.13364G>C (p.Gly4455Ala) c.10064G>C (p.Gly3355Ala) | |
| 8 | g.143916403C>T | CA372474539 | PLEC | c.13550G>A (p.Gly4517Asp) c.13469G>A (p.Gly4490Asp) c.13136G>A (p.Gly4379Asp) c.13349G>A (p.Gly4450Asp) c.13418G>A (p.Gly4473Asp) c.10118G>A (p.Gly3373Asp) c.13829G>A (p.Gly4610Asp) c.13352G>A (p.Gly4451Asp) c.13376G>A (p.Gly4459Asp) c.13430G>A (p.Gly4477Asp) c.13322G>A (p.Gly4441Asp) c.13499G>A (p.Gly4500Asp) c.13487G>A (p.Gly4496Asp) c.13844G>A (p.Gly4615Asp) c.13445G>A (p.Gly4482Asp) c.13433G>A (p.Gly4478Asp) c.13391G>A (p.Gly4464Asp) c.13367G>A (p.Gly4456Asp) c.13337G>A (p.Gly4446Asp) c.13514G>A (p.Gly4505Asp) c.13364G>A (p.Gly4455Asp) c.10064G>A (p.Gly3355Asp) | |
| 8 | g.143916404C>A | CA372474543 | PLEC | c.13549G>T (p.Gly4517Cys) c.13468G>T (p.Gly4490Cys) c.13135G>T (p.Gly4379Cys) c.13348G>T (p.Gly4450Cys) c.13417G>T (p.Gly4473Cys) c.10117G>T (p.Gly3373Cys) c.13828G>T (p.Gly4610Cys) c.13351G>T (p.Gly4451Cys) c.13375G>T (p.Gly4459Cys) c.13429G>T (p.Gly4477Cys) c.13321G>T (p.Gly4441Cys) c.13498G>T (p.Gly4500Cys) c.13486G>T (p.Gly4496Cys) c.13843G>T (p.Gly4615Cys) c.13444G>T (p.Gly4482Cys) c.13432G>T (p.Gly4478Cys) c.13390G>T (p.Gly4464Cys) c.13366G>T (p.Gly4456Cys) c.13336G>T (p.Gly4446Cys) c.13513G>T (p.Gly4505Cys) c.13363G>T (p.Gly4455Cys) c.10063G>T (p.Gly3355Cys) | |
| 8 | g.143916404C= | CA1826037107 | PLEC | c.13549G= (p.Gly4517=) c.13468G= (p.Gly4490=) c.13135G= (p.Gly4379=) c.13348G= (p.Gly4450=) c.13417G= (p.Gly4473=) c.10117G= (p.Gly3373=) c.13828G= (p.Gly4610=) c.13351G= (p.Gly4451=) c.13375G= (p.Gly4459=) c.13429G= (p.Gly4477=) c.13321G= (p.Gly4441=) c.13498G= (p.Gly4500=) c.13486G= (p.Gly4496=) c.13843G= (p.Gly4615=) c.13444G= (p.Gly4482=) c.13432G= (p.Gly4478=) c.13390G= (p.Gly4464=) c.13366G= (p.Gly4456=) c.13336G= (p.Gly4446=) c.13513G= (p.Gly4505=) c.13363G= (p.Gly4455=) c.10063G= (p.Gly3355=) | |
| 8 | g.143916404C>G | CA372474544 | PLEC | c.13549G>C (p.Gly4517Arg) c.13468G>C (p.Gly4490Arg) c.13135G>C (p.Gly4379Arg) c.13348G>C (p.Gly4450Arg) c.13417G>C (p.Gly4473Arg) c.10117G>C (p.Gly3373Arg) c.13828G>C (p.Gly4610Arg) c.13351G>C (p.Gly4451Arg) c.13375G>C (p.Gly4459Arg) c.13429G>C (p.Gly4477Arg) c.13321G>C (p.Gly4441Arg) c.13498G>C (p.Gly4500Arg) c.13486G>C (p.Gly4496Arg) c.13843G>C (p.Gly4615Arg) c.13444G>C (p.Gly4482Arg) c.13432G>C (p.Gly4478Arg) c.13390G>C (p.Gly4464Arg) c.13366G>C (p.Gly4456Arg) c.13336G>C (p.Gly4446Arg) c.13513G>C (p.Gly4505Arg) c.13363G>C (p.Gly4455Arg) c.10063G>C (p.Gly3355Arg) | |
| 8 | g.143916404C>T | CA372474546 | PLEC | c.13549G>A (p.Gly4517Ser) c.13468G>A (p.Gly4490Ser) c.13135G>A (p.Gly4379Ser) c.13348G>A (p.Gly4450Ser) c.13417G>A (p.Gly4473Ser) c.10117G>A (p.Gly3373Ser) c.13828G>A (p.Gly4610Ser) c.13351G>A (p.Gly4451Ser) c.13375G>A (p.Gly4459Ser) c.13429G>A (p.Gly4477Ser) c.13321G>A (p.Gly4441Ser) c.13498G>A (p.Gly4500Ser) c.13486G>A (p.Gly4496Ser) c.13843G>A (p.Gly4615Ser) c.13444G>A (p.Gly4482Ser) c.13432G>A (p.Gly4478Ser) c.13390G>A (p.Gly4464Ser) c.13366G>A (p.Gly4456Ser) c.13336G>A (p.Gly4446Ser) c.13513G>A (p.Gly4505Ser) c.13363G>A (p.Gly4455Ser) c.10063G>A (p.Gly3355Ser) | dbSNP |
| 8 | g.143916405C>A | CA372474549 | PLEC | c.13548G>T (p.Lys4516Asn) c.13467G>T (p.Lys4489Asn) c.13134G>T (p.Lys4378Asn) c.13347G>T (p.Lys4449Asn) c.13416G>T (p.Lys4472Asn) c.10116G>T (p.Lys3372Asn) c.13827G>T (p.Lys4609Asn) c.13350G>T (p.Lys4450Asn) c.13374G>T (p.Lys4458Asn) c.13428G>T (p.Lys4476Asn) c.13320G>T (p.Lys4440Asn) c.13497G>T (p.Lys4499Asn) c.13485G>T (p.Lys4495Asn) c.13842G>T (p.Lys4614Asn) c.13443G>T (p.Lys4481Asn) c.13431G>T (p.Lys4477Asn) c.13389G>T (p.Lys4463Asn) c.13365G>T (p.Lys4455Asn) c.13335G>T (p.Lys4445Asn) c.13512G>T (p.Lys4504Asn) c.13362G>T (p.Lys4454Asn) c.10062G>T (p.Lys3354Asn) | |
| 8 | g.143916405C= | CA1826037110 | PLEC | c.13548G= (p.Lys4516=) c.13467G= (p.Lys4489=) c.13134G= (p.Lys4378=) c.13347G= (p.Lys4449=) c.13416G= (p.Lys4472=) c.10116G= (p.Lys3372=) c.13827G= (p.Lys4609=) c.13350G= (p.Lys4450=) c.13374G= (p.Lys4458=) c.13428G= (p.Lys4476=) c.13320G= (p.Lys4440=) c.13497G= (p.Lys4499=) c.13485G= (p.Lys4495=) c.13842G= (p.Lys4614=) c.13443G= (p.Lys4481=) c.13431G= (p.Lys4477=) c.13389G= (p.Lys4463=) c.13365G= (p.Lys4455=) c.13335G= (p.Lys4445=) c.13512G= (p.Lys4504=) c.13362G= (p.Lys4454=) c.10062G= (p.Lys3354=) | |
| 8 | g.143916405C>G | CA372474550 | PLEC | c.13548G>C (p.Lys4516Asn) c.13467G>C (p.Lys4489Asn) c.13134G>C (p.Lys4378Asn) c.13347G>C (p.Lys4449Asn) c.13416G>C (p.Lys4472Asn) c.10116G>C (p.Lys3372Asn) c.13827G>C (p.Lys4609Asn) c.13350G>C (p.Lys4450Asn) c.13374G>C (p.Lys4458Asn) c.13428G>C (p.Lys4476Asn) c.13320G>C (p.Lys4440Asn) c.13497G>C (p.Lys4499Asn) c.13485G>C (p.Lys4495Asn) c.13842G>C (p.Lys4614Asn) c.13443G>C (p.Lys4481Asn) c.13431G>C (p.Lys4477Asn) c.13389G>C (p.Lys4463Asn) c.13365G>C (p.Lys4455Asn) c.13335G>C (p.Lys4445Asn) c.13512G>C (p.Lys4504Asn) c.13362G>C (p.Lys4454Asn) c.10062G>C (p.Lys3354Asn) | |
| 8 | g.143916405C>T | CA463526407 | PLEC | c.13548G>A (p.Lys4516=) c.13467G>A (p.Lys4489=) c.13134G>A (p.Lys4378=) c.13347G>A (p.Lys4449=) c.13416G>A (p.Lys4472=) c.10116G>A (p.Lys3372=) c.13827G>A (p.Lys4609=) c.13350G>A (p.Lys4450=) c.13374G>A (p.Lys4458=) c.13428G>A (p.Lys4476=) c.13320G>A (p.Lys4440=) c.13497G>A (p.Lys4499=) c.13485G>A (p.Lys4495=) c.13842G>A (p.Lys4614=) c.13443G>A (p.Lys4481=) c.13431G>A (p.Lys4477=) c.13389G>A (p.Lys4463=) c.13365G>A (p.Lys4455=) c.13335G>A (p.Lys4445=) c.13512G>A (p.Lys4504=) c.13362G>A (p.Lys4454=) c.10062G>A (p.Lys3354=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143916406T>A | CA372474553 | PLEC | c.13547A>T (p.Lys4516Met) c.13466A>T (p.Lys4489Met) c.13133A>T (p.Lys4378Met) c.13346A>T (p.Lys4449Met) c.13415A>T (p.Lys4472Met) c.10115A>T (p.Lys3372Met) c.13826A>T (p.Lys4609Met) c.13349A>T (p.Lys4450Met) c.13373A>T (p.Lys4458Met) c.13427A>T (p.Lys4476Met) c.13319A>T (p.Lys4440Met) c.13496A>T (p.Lys4499Met) c.13484A>T (p.Lys4495Met) c.13841A>T (p.Lys4614Met) c.13442A>T (p.Lys4481Met) c.13430A>T (p.Lys4477Met) c.13388A>T (p.Lys4463Met) c.13364A>T (p.Lys4455Met) c.13334A>T (p.Lys4445Met) c.13511A>T (p.Lys4504Met) c.13361A>T (p.Lys4454Met) c.10061A>T (p.Lys3354Met) | |
| 8 | g.143916406T>C | CA372474555 | PLEC | c.13547A>G (p.Lys4516Arg) c.13466A>G (p.Lys4489Arg) c.13133A>G (p.Lys4378Arg) c.13346A>G (p.Lys4449Arg) c.13415A>G (p.Lys4472Arg) c.10115A>G (p.Lys3372Arg) c.13826A>G (p.Lys4609Arg) c.13349A>G (p.Lys4450Arg) c.13373A>G (p.Lys4458Arg) c.13427A>G (p.Lys4476Arg) c.13319A>G (p.Lys4440Arg) c.13496A>G (p.Lys4499Arg) c.13484A>G (p.Lys4495Arg) c.13841A>G (p.Lys4614Arg) c.13442A>G (p.Lys4481Arg) c.13430A>G (p.Lys4477Arg) c.13388A>G (p.Lys4463Arg) c.13364A>G (p.Lys4455Arg) c.13334A>G (p.Lys4445Arg) c.13511A>G (p.Lys4504Arg) c.13361A>G (p.Lys4454Arg) c.10061A>G (p.Lys3354Arg) | |
| 8 | g.143916406T>G | CA372474557 | PLEC | c.13547A>C (p.Lys4516Thr) c.13466A>C (p.Lys4489Thr) c.13133A>C (p.Lys4378Thr) c.13346A>C (p.Lys4449Thr) c.13415A>C (p.Lys4472Thr) c.10115A>C (p.Lys3372Thr) c.13826A>C (p.Lys4609Thr) c.13349A>C (p.Lys4450Thr) c.13373A>C (p.Lys4458Thr) c.13427A>C (p.Lys4476Thr) c.13319A>C (p.Lys4440Thr) c.13496A>C (p.Lys4499Thr) c.13484A>C (p.Lys4495Thr) c.13841A>C (p.Lys4614Thr) c.13442A>C (p.Lys4481Thr) c.13430A>C (p.Lys4477Thr) c.13388A>C (p.Lys4463Thr) c.13364A>C (p.Lys4455Thr) c.13334A>C (p.Lys4445Thr) c.13511A>C (p.Lys4504Thr) c.13361A>C (p.Lys4454Thr) c.10061A>C (p.Lys3354Thr) | |
| 8 | g.143916407T>A | CA372474559 | PLEC | c.13546A>T (p.Lys4516Ter) c.13465A>T (p.Lys4489Ter) c.13132A>T (p.Lys4378Ter) c.13345A>T (p.Lys4449Ter) c.13414A>T (p.Lys4472Ter) c.10114A>T (p.Lys3372Ter) c.13825A>T (p.Lys4609Ter) c.13348A>T (p.Lys4450Ter) c.13372A>T (p.Lys4458Ter) c.13426A>T (p.Lys4476Ter) c.13318A>T (p.Lys4440Ter) c.13495A>T (p.Lys4499Ter) c.13483A>T (p.Lys4495Ter) c.13840A>T (p.Lys4614Ter) c.13441A>T (p.Lys4481Ter) c.13429A>T (p.Lys4477Ter) c.13387A>T (p.Lys4463Ter) c.13363A>T (p.Lys4455Ter) c.13333A>T (p.Lys4445Ter) c.13510A>T (p.Lys4504Ter) c.13360A>T (p.Lys4454Ter) c.10060A>T (p.Lys3354Ter) | |
| 8 | g.143916407T>C | CA372474561 | PLEC | c.13546A>G (p.Lys4516Glu) c.13465A>G (p.Lys4489Glu) c.13132A>G (p.Lys4378Glu) c.13345A>G (p.Lys4449Glu) c.13414A>G (p.Lys4472Glu) c.10114A>G (p.Lys3372Glu) c.13825A>G (p.Lys4609Glu) c.13348A>G (p.Lys4450Glu) c.13372A>G (p.Lys4458Glu) c.13426A>G (p.Lys4476Glu) c.13318A>G (p.Lys4440Glu) c.13495A>G (p.Lys4499Glu) c.13483A>G (p.Lys4495Glu) c.13840A>G (p.Lys4614Glu) c.13441A>G (p.Lys4481Glu) c.13429A>G (p.Lys4477Glu) c.13387A>G (p.Lys4463Glu) c.13363A>G (p.Lys4455Glu) c.13333A>G (p.Lys4445Glu) c.13510A>G (p.Lys4504Glu) c.13360A>G (p.Lys4454Glu) c.10060A>G (p.Lys3354Glu) | dbSNP gnomAD v4 |
| 8 | g.143916407T>G | CA4923813 | PLEC | c.13546A>C (p.Lys4516Gln) c.13465A>C (p.Lys4489Gln) c.13132A>C (p.Lys4378Gln) c.13345A>C (p.Lys4449Gln) c.13414A>C (p.Lys4472Gln) c.10114A>C (p.Lys3372Gln) c.13825A>C (p.Lys4609Gln) c.13348A>C (p.Lys4450Gln) c.13372A>C (p.Lys4458Gln) c.13426A>C (p.Lys4476Gln) c.13318A>C (p.Lys4440Gln) c.13495A>C (p.Lys4499Gln) c.13483A>C (p.Lys4495Gln) c.13840A>C (p.Lys4614Gln) c.13441A>C (p.Lys4481Gln) c.13429A>C (p.Lys4477Gln) c.13387A>C (p.Lys4463Gln) c.13363A>C (p.Lys4455Gln) c.13333A>C (p.Lys4445Gln) c.13510A>C (p.Lys4504Gln) c.13360A>C (p.Lys4454Gln) c.10060A>C (p.Lys3354Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143916407T= | CA1826037113 | PLEC | c.13546A= (p.Lys4516=) c.13465A= (p.Lys4489=) c.13132A= (p.Lys4378=) c.13345A= (p.Lys4449=) c.13414A= (p.Lys4472=) c.10114A= (p.Lys3372=) c.13825A= (p.Lys4609=) c.13348A= (p.Lys4450=) c.13372A= (p.Lys4458=) c.13426A= (p.Lys4476=) c.13318A= (p.Lys4440=) c.13495A= (p.Lys4499=) c.13483A= (p.Lys4495=) c.13840A= (p.Lys4614=) c.13441A= (p.Lys4481=) c.13429A= (p.Lys4477=) c.13387A= (p.Lys4463=) c.13363A= (p.Lys4455=) c.13333A= (p.Lys4445=) c.13510A= (p.Lys4504=) c.13360A= (p.Lys4454=) c.10060A= (p.Lys3354=) | |
| 8 | g.143916408G>A | CA463526414 | PLEC | c.13545C>T (p.Thr4515=) c.13464C>T (p.Thr4488=) c.13131C>T (p.Thr4377=) c.13344C>T (p.Thr4448=) c.13413C>T (p.Thr4471=) c.10113C>T (p.Thr3371=) c.13824C>T (p.Thr4608=) c.13347C>T (p.Thr4449=) c.13371C>T (p.Thr4457=) c.13425C>T (p.Thr4475=) c.13317C>T (p.Thr4439=) c.13494C>T (p.Thr4498=) c.13482C>T (p.Thr4494=) c.13839C>T (p.Thr4613=) c.13440C>T (p.Thr4480=) c.13428C>T (p.Thr4476=) c.13386C>T (p.Thr4462=) c.13362C>T (p.Thr4454=) c.13332C>T (p.Thr4444=) c.13509C>T (p.Thr4503=) c.13359C>T (p.Thr4453=) c.10059C>T (p.Thr3353=) | gnomAD v4 |
| 8 | g.143916408G>C | CA463526415 | PLEC | c.13545C>G (p.Thr4515=) c.13464C>G (p.Thr4488=) c.13131C>G (p.Thr4377=) c.13344C>G (p.Thr4448=) c.13413C>G (p.Thr4471=) c.10113C>G (p.Thr3371=) c.13824C>G (p.Thr4608=) c.13347C>G (p.Thr4449=) c.13371C>G (p.Thr4457=) c.13425C>G (p.Thr4475=) c.13317C>G (p.Thr4439=) c.13494C>G (p.Thr4498=) c.13482C>G (p.Thr4494=) c.13839C>G (p.Thr4613=) c.13440C>G (p.Thr4480=) c.13428C>G (p.Thr4476=) c.13386C>G (p.Thr4462=) c.13362C>G (p.Thr4454=) c.13332C>G (p.Thr4444=) c.13509C>G (p.Thr4503=) c.13359C>G (p.Thr4453=) c.10059C>G (p.Thr3353=) | |
| 8 | g.143916408G>T | CA463526417 | PLEC | c.13545C>A (p.Thr4515=) c.13464C>A (p.Thr4488=) c.13131C>A (p.Thr4377=) c.13344C>A (p.Thr4448=) c.13413C>A (p.Thr4471=) c.10113C>A (p.Thr3371=) c.13824C>A (p.Thr4608=) c.13347C>A (p.Thr4449=) c.13371C>A (p.Thr4457=) c.13425C>A (p.Thr4475=) c.13317C>A (p.Thr4439=) c.13494C>A (p.Thr4498=) c.13482C>A (p.Thr4494=) c.13839C>A (p.Thr4613=) c.13440C>A (p.Thr4480=) c.13428C>A (p.Thr4476=) c.13386C>A (p.Thr4462=) c.13362C>A (p.Thr4454=) c.13332C>A (p.Thr4444=) c.13509C>A (p.Thr4503=) c.13359C>A (p.Thr4453=) c.10059C>A (p.Thr3353=) | |
| 8 | g.143916409G>A | CA372474568 | PLEC | c.13544C>T (p.Thr4515Ile) c.13463C>T (p.Thr4488Ile) c.13130C>T (p.Thr4377Ile) c.13343C>T (p.Thr4448Ile) c.13412C>T (p.Thr4471Ile) c.10112C>T (p.Thr3371Ile) c.13823C>T (p.Thr4608Ile) c.13346C>T (p.Thr4449Ile) c.13370C>T (p.Thr4457Ile) c.13424C>T (p.Thr4475Ile) c.13316C>T (p.Thr4439Ile) c.13493C>T (p.Thr4498Ile) c.13481C>T (p.Thr4494Ile) c.13838C>T (p.Thr4613Ile) c.13439C>T (p.Thr4480Ile) c.13427C>T (p.Thr4476Ile) c.13385C>T (p.Thr4462Ile) c.13361C>T (p.Thr4454Ile) c.13331C>T (p.Thr4444Ile) c.13508C>T (p.Thr4503Ile) c.13358C>T (p.Thr4453Ile) c.10058C>T (p.Thr3353Ile) | gnomAD v4 |
| 8 | g.143916409G>C | CA372474566 | PLEC | c.13544C>G (p.Thr4515Ser) c.13463C>G (p.Thr4488Ser) c.13130C>G (p.Thr4377Ser) c.13343C>G (p.Thr4448Ser) c.13412C>G (p.Thr4471Ser) c.10112C>G (p.Thr3371Ser) c.13823C>G (p.Thr4608Ser) c.13346C>G (p.Thr4449Ser) c.13370C>G (p.Thr4457Ser) c.13424C>G (p.Thr4475Ser) c.13316C>G (p.Thr4439Ser) c.13493C>G (p.Thr4498Ser) c.13481C>G (p.Thr4494Ser) c.13838C>G (p.Thr4613Ser) c.13439C>G (p.Thr4480Ser) c.13427C>G (p.Thr4476Ser) c.13385C>G (p.Thr4462Ser) c.13361C>G (p.Thr4454Ser) c.13331C>G (p.Thr4444Ser) c.13508C>G (p.Thr4503Ser) c.13358C>G (p.Thr4453Ser) c.10058C>G (p.Thr3353Ser) | ClinVar |
| 8 | g.143916409G>T | CA372474564 | PLEC | c.13544C>A (p.Thr4515Asn) c.13463C>A (p.Thr4488Asn) c.13130C>A (p.Thr4377Asn) c.13343C>A (p.Thr4448Asn) c.13412C>A (p.Thr4471Asn) c.10112C>A (p.Thr3371Asn) c.13823C>A (p.Thr4608Asn) c.13346C>A (p.Thr4449Asn) c.13370C>A (p.Thr4457Asn) c.13424C>A (p.Thr4475Asn) c.13316C>A (p.Thr4439Asn) c.13493C>A (p.Thr4498Asn) c.13481C>A (p.Thr4494Asn) c.13838C>A (p.Thr4613Asn) c.13439C>A (p.Thr4480Asn) c.13427C>A (p.Thr4476Asn) c.13385C>A (p.Thr4462Asn) c.13361C>A (p.Thr4454Asn) c.13331C>A (p.Thr4444Asn) c.13508C>A (p.Thr4503Asn) c.13358C>A (p.Thr4453Asn) c.10058C>A (p.Thr3353Asn) | |
| 8 | g.143916410T>A | CA372474570 | PLEC | c.13543A>T (p.Thr4515Ser) c.13462A>T (p.Thr4488Ser) c.13129A>T (p.Thr4377Ser) c.13342A>T (p.Thr4448Ser) c.13411A>T (p.Thr4471Ser) c.10111A>T (p.Thr3371Ser) c.13822A>T (p.Thr4608Ser) c.13345A>T (p.Thr4449Ser) c.13369A>T (p.Thr4457Ser) c.13423A>T (p.Thr4475Ser) c.13315A>T (p.Thr4439Ser) c.13492A>T (p.Thr4498Ser) c.13480A>T (p.Thr4494Ser) c.13837A>T (p.Thr4613Ser) c.13438A>T (p.Thr4480Ser) c.13426A>T (p.Thr4476Ser) c.13384A>T (p.Thr4462Ser) c.13360A>T (p.Thr4454Ser) c.13330A>T (p.Thr4444Ser) c.13507A>T (p.Thr4503Ser) c.13357A>T (p.Thr4453Ser) c.10057A>T (p.Thr3353Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916410T>C | CA372474572 | PLEC | c.13543A>G (p.Thr4515Ala) c.13462A>G (p.Thr4488Ala) c.13129A>G (p.Thr4377Ala) c.13342A>G (p.Thr4448Ala) c.13411A>G (p.Thr4471Ala) c.10111A>G (p.Thr3371Ala) c.13822A>G (p.Thr4608Ala) c.13345A>G (p.Thr4449Ala) c.13369A>G (p.Thr4457Ala) c.13423A>G (p.Thr4475Ala) c.13315A>G (p.Thr4439Ala) c.13492A>G (p.Thr4498Ala) c.13480A>G (p.Thr4494Ala) c.13837A>G (p.Thr4613Ala) c.13438A>G (p.Thr4480Ala) c.13426A>G (p.Thr4476Ala) c.13384A>G (p.Thr4462Ala) c.13360A>G (p.Thr4454Ala) c.13330A>G (p.Thr4444Ala) c.13507A>G (p.Thr4503Ala) c.13357A>G (p.Thr4453Ala) c.10057A>G (p.Thr3353Ala) | gnomAD v4 |
| 8 | g.143916410T>G | CA372474574 | PLEC | c.13543A>C (p.Thr4515Pro) c.13462A>C (p.Thr4488Pro) c.13129A>C (p.Thr4377Pro) c.13342A>C (p.Thr4448Pro) c.13411A>C (p.Thr4471Pro) c.10111A>C (p.Thr3371Pro) c.13822A>C (p.Thr4608Pro) c.13345A>C (p.Thr4449Pro) c.13369A>C (p.Thr4457Pro) c.13423A>C (p.Thr4475Pro) c.13315A>C (p.Thr4439Pro) c.13492A>C (p.Thr4498Pro) c.13480A>C (p.Thr4494Pro) c.13837A>C (p.Thr4613Pro) c.13438A>C (p.Thr4480Pro) c.13426A>C (p.Thr4476Pro) c.13384A>C (p.Thr4462Pro) c.13360A>C (p.Thr4454Pro) c.13330A>C (p.Thr4444Pro) c.13507A>C (p.Thr4503Pro) c.13357A>C (p.Thr4453Pro) c.10057A>C (p.Thr3353Pro) | |
| 8 | g.143916410T= | CA1826037118 | PLEC | c.13543A= (p.Thr4515=) c.13462A= (p.Thr4488=) c.13129A= (p.Thr4377=) c.13342A= (p.Thr4448=) c.13411A= (p.Thr4471=) c.10111A= (p.Thr3371=) c.13822A= (p.Thr4608=) c.13345A= (p.Thr4449=) c.13369A= (p.Thr4457=) c.13423A= (p.Thr4475=) c.13315A= (p.Thr4439=) c.13492A= (p.Thr4498=) c.13480A= (p.Thr4494=) c.13837A= (p.Thr4613=) c.13438A= (p.Thr4480=) c.13426A= (p.Thr4476=) c.13384A= (p.Thr4462=) c.13360A= (p.Thr4454=) c.13330A= (p.Thr4444=) c.13507A= (p.Thr4503=) c.13357A= (p.Thr4453=) c.10057A= (p.Thr3353=) | |
| 8 | g.143916411G>A | CA463526423 | PLEC | c.13542C>T (p.Ser4514=) c.13461C>T (p.Ser4487=) c.13128C>T (p.Ser4376=) c.13341C>T (p.Ser4447=) c.13410C>T (p.Ser4470=) c.10110C>T (p.Ser3370=) c.13821C>T (p.Ser4607=) c.13344C>T (p.Ser4448=) c.13368C>T (p.Ser4456=) c.13422C>T (p.Ser4474=) c.13314C>T (p.Ser4438=) c.13491C>T (p.Ser4497=) c.13479C>T (p.Ser4493=) c.13836C>T (p.Ser4612=) c.13437C>T (p.Ser4479=) c.13425C>T (p.Ser4475=) c.13383C>T (p.Ser4461=) c.13359C>T (p.Ser4453=) c.13329C>T (p.Ser4443=) c.13506C>T (p.Ser4502=) c.13356C>T (p.Ser4452=) c.10056C>T (p.Ser3352=) | |
| 8 | g.143916411G>C | CA463526424 | PLEC | c.13542C>G (p.Ser4514=) c.13461C>G (p.Ser4487=) c.13128C>G (p.Ser4376=) c.13341C>G (p.Ser4447=) c.13410C>G (p.Ser4470=) c.10110C>G (p.Ser3370=) c.13821C>G (p.Ser4607=) c.13344C>G (p.Ser4448=) c.13368C>G (p.Ser4456=) c.13422C>G (p.Ser4474=) c.13314C>G (p.Ser4438=) c.13491C>G (p.Ser4497=) c.13479C>G (p.Ser4493=) c.13836C>G (p.Ser4612=) c.13437C>G (p.Ser4479=) c.13425C>G (p.Ser4475=) c.13383C>G (p.Ser4461=) c.13359C>G (p.Ser4453=) c.13329C>G (p.Ser4443=) c.13506C>G (p.Ser4502=) c.13356C>G (p.Ser4452=) c.10056C>G (p.Ser3352=) | |
| 8 | g.143916411G>T | CA463526431 | PLEC | c.13542C>A (p.Ser4514=) c.13461C>A (p.Ser4487=) c.13128C>A (p.Ser4376=) c.13341C>A (p.Ser4447=) c.13410C>A (p.Ser4470=) c.10110C>A (p.Ser3370=) c.13821C>A (p.Ser4607=) c.13344C>A (p.Ser4448=) c.13368C>A (p.Ser4456=) c.13422C>A (p.Ser4474=) c.13314C>A (p.Ser4438=) c.13491C>A (p.Ser4497=) c.13479C>A (p.Ser4493=) c.13836C>A (p.Ser4612=) c.13437C>A (p.Ser4479=) c.13425C>A (p.Ser4475=) c.13383C>A (p.Ser4461=) c.13359C>A (p.Ser4453=) c.13329C>A (p.Ser4443=) c.13506C>A (p.Ser4502=) c.13356C>A (p.Ser4452=) c.10056C>A (p.Ser3352=) | gnomAD v4 |
| 8 | g.143916412G>A | CA372474576 | PLEC | c.13541C>T (p.Ser4514Phe) c.13460C>T (p.Ser4487Phe) c.13127C>T (p.Ser4376Phe) c.13340C>T (p.Ser4447Phe) c.13409C>T (p.Ser4470Phe) c.10109C>T (p.Ser3370Phe) c.13820C>T (p.Ser4607Phe) c.13343C>T (p.Ser4448Phe) c.13367C>T (p.Ser4456Phe) c.13421C>T (p.Ser4474Phe) c.13313C>T (p.Ser4438Phe) c.13490C>T (p.Ser4497Phe) c.13478C>T (p.Ser4493Phe) c.13835C>T (p.Ser4612Phe) c.13436C>T (p.Ser4479Phe) c.13424C>T (p.Ser4475Phe) c.13382C>T (p.Ser4461Phe) c.13358C>T (p.Ser4453Phe) c.13328C>T (p.Ser4443Phe) c.13505C>T (p.Ser4502Phe) c.13355C>T (p.Ser4452Phe) c.10055C>T (p.Ser3352Phe) | gnomAD v4 |
| 8 | g.143916412G>C | CA372474578 | PLEC | c.13541C>G (p.Ser4514Cys) c.13460C>G (p.Ser4487Cys) c.13127C>G (p.Ser4376Cys) c.13340C>G (p.Ser4447Cys) c.13409C>G (p.Ser4470Cys) c.10109C>G (p.Ser3370Cys) c.13820C>G (p.Ser4607Cys) c.13343C>G (p.Ser4448Cys) c.13367C>G (p.Ser4456Cys) c.13421C>G (p.Ser4474Cys) c.13313C>G (p.Ser4438Cys) c.13490C>G (p.Ser4497Cys) c.13478C>G (p.Ser4493Cys) c.13835C>G (p.Ser4612Cys) c.13436C>G (p.Ser4479Cys) c.13424C>G (p.Ser4475Cys) c.13382C>G (p.Ser4461Cys) c.13358C>G (p.Ser4453Cys) c.13328C>G (p.Ser4443Cys) c.13505C>G (p.Ser4502Cys) c.13355C>G (p.Ser4452Cys) c.10055C>G (p.Ser3352Cys) | dbSNP gnomAD v4 |
| 8 | g.143916412G= | CA1826037119 | PLEC | c.13541C= (p.Ser4514=) c.13460C= (p.Ser4487=) c.13127C= (p.Ser4376=) c.13340C= (p.Ser4447=) c.13409C= (p.Ser4470=) c.10109C= (p.Ser3370=) c.13820C= (p.Ser4607=) c.13343C= (p.Ser4448=) c.13367C= (p.Ser4456=) c.13421C= (p.Ser4474=) c.13313C= (p.Ser4438=) c.13490C= (p.Ser4497=) c.13478C= (p.Ser4493=) c.13835C= (p.Ser4612=) c.13436C= (p.Ser4479=) c.13424C= (p.Ser4475=) c.13382C= (p.Ser4461=) c.13358C= (p.Ser4453=) c.13328C= (p.Ser4443=) c.13505C= (p.Ser4502=) c.13355C= (p.Ser4452=) c.10055C= (p.Ser3352=) | |
| 8 | g.143916412G>T | CA372474580 | PLEC | c.13541C>A (p.Ser4514Tyr) c.13460C>A (p.Ser4487Tyr) c.13127C>A (p.Ser4376Tyr) c.13340C>A (p.Ser4447Tyr) c.13409C>A (p.Ser4470Tyr) c.10109C>A (p.Ser3370Tyr) c.13820C>A (p.Ser4607Tyr) c.13343C>A (p.Ser4448Tyr) c.13367C>A (p.Ser4456Tyr) c.13421C>A (p.Ser4474Tyr) c.13313C>A (p.Ser4438Tyr) c.13490C>A (p.Ser4497Tyr) c.13478C>A (p.Ser4493Tyr) c.13835C>A (p.Ser4612Tyr) c.13436C>A (p.Ser4479Tyr) c.13424C>A (p.Ser4475Tyr) c.13382C>A (p.Ser4461Tyr) c.13358C>A (p.Ser4453Tyr) c.13328C>A (p.Ser4443Tyr) c.13505C>A (p.Ser4502Tyr) c.13355C>A (p.Ser4452Tyr) c.10055C>A (p.Ser3352Tyr) | |
| 8 | g.143916413A>C | CA372474586 | PLEC | c.13540T>G (p.Ser4514Ala) c.13459T>G (p.Ser4487Ala) c.13126T>G (p.Ser4376Ala) c.13339T>G (p.Ser4447Ala) c.13408T>G (p.Ser4470Ala) c.10108T>G (p.Ser3370Ala) c.13819T>G (p.Ser4607Ala) c.13342T>G (p.Ser4448Ala) c.13366T>G (p.Ser4456Ala) c.13420T>G (p.Ser4474Ala) c.13312T>G (p.Ser4438Ala) c.13489T>G (p.Ser4497Ala) c.13477T>G (p.Ser4493Ala) c.13834T>G (p.Ser4612Ala) c.13435T>G (p.Ser4479Ala) c.13423T>G (p.Ser4475Ala) c.13381T>G (p.Ser4461Ala) c.13357T>G (p.Ser4453Ala) c.13327T>G (p.Ser4443Ala) c.13504T>G (p.Ser4502Ala) c.13354T>G (p.Ser4452Ala) c.10054T>G (p.Ser3352Ala) | |
| 8 | g.143916413A>G | CA372474582 | PLEC | c.13540T>C (p.Ser4514Pro) c.13459T>C (p.Ser4487Pro) c.13126T>C (p.Ser4376Pro) c.13339T>C (p.Ser4447Pro) c.13408T>C (p.Ser4470Pro) c.10108T>C (p.Ser3370Pro) c.13819T>C (p.Ser4607Pro) c.13342T>C (p.Ser4448Pro) c.13366T>C (p.Ser4456Pro) c.13420T>C (p.Ser4474Pro) c.13312T>C (p.Ser4438Pro) c.13489T>C (p.Ser4497Pro) c.13477T>C (p.Ser4493Pro) c.13834T>C (p.Ser4612Pro) c.13435T>C (p.Ser4479Pro) c.13423T>C (p.Ser4475Pro) c.13381T>C (p.Ser4461Pro) c.13357T>C (p.Ser4453Pro) c.13327T>C (p.Ser4443Pro) c.13504T>C (p.Ser4502Pro) c.13354T>C (p.Ser4452Pro) c.10054T>C (p.Ser3352Pro) | |
| 8 | g.143916413A>T | CA372474584 | PLEC | c.13540T>A (p.Ser4514Thr) c.13459T>A (p.Ser4487Thr) c.13126T>A (p.Ser4376Thr) c.13339T>A (p.Ser4447Thr) c.13408T>A (p.Ser4470Thr) c.10108T>A (p.Ser3370Thr) c.13819T>A (p.Ser4607Thr) c.13342T>A (p.Ser4448Thr) c.13366T>A (p.Ser4456Thr) c.13420T>A (p.Ser4474Thr) c.13312T>A (p.Ser4438Thr) c.13489T>A (p.Ser4497Thr) c.13477T>A (p.Ser4493Thr) c.13834T>A (p.Ser4612Thr) c.13435T>A (p.Ser4479Thr) c.13423T>A (p.Ser4475Thr) c.13381T>A (p.Ser4461Thr) c.13357T>A (p.Ser4453Thr) c.13327T>A (p.Ser4443Thr) c.13504T>A (p.Ser4502Thr) c.13354T>A (p.Ser4452Thr) c.10054T>A (p.Ser3352Thr) | |
| 8 | g.143916414C>A | CA372474587 | PLEC | c.13539G>T (p.Gln4513His) c.13458G>T (p.Gln4486His) c.13125G>T (p.Gln4375His) c.13338G>T (p.Gln4446His) c.13407G>T (p.Gln4469His) c.10107G>T (p.Gln3369His) c.13818G>T (p.Gln4606His) c.13341G>T (p.Gln4447His) c.13365G>T (p.Gln4455His) c.13419G>T (p.Gln4473His) c.13311G>T (p.Gln4437His) c.13488G>T (p.Gln4496His) c.13476G>T (p.Gln4492His) c.13833G>T (p.Gln4611His) c.13434G>T (p.Gln4478His) c.13422G>T (p.Gln4474His) c.13380G>T (p.Gln4460His) c.13356G>T (p.Gln4452His) c.13326G>T (p.Gln4442His) c.13503G>T (p.Gln4501His) c.13353G>T (p.Gln4451His) c.10053G>T (p.Gln3351His) | |
| 8 | g.143916414C>G | CA372474589 | PLEC | c.13539G>C (p.Gln4513His) c.13458G>C (p.Gln4486His) c.13125G>C (p.Gln4375His) c.13338G>C (p.Gln4446His) c.13407G>C (p.Gln4469His) c.10107G>C (p.Gln3369His) c.13818G>C (p.Gln4606His) c.13341G>C (p.Gln4447His) c.13365G>C (p.Gln4455His) c.13419G>C (p.Gln4473His) c.13311G>C (p.Gln4437His) c.13488G>C (p.Gln4496His) c.13476G>C (p.Gln4492His) c.13833G>C (p.Gln4611His) c.13434G>C (p.Gln4478His) c.13422G>C (p.Gln4474His) c.13380G>C (p.Gln4460His) c.13356G>C (p.Gln4452His) c.13326G>C (p.Gln4442His) c.13503G>C (p.Gln4501His) c.13353G>C (p.Gln4451His) c.10053G>C (p.Gln3351His) | |
| 8 | g.143916414C>T | CA463526439 | PLEC | c.13539G>A (p.Gln4513=) c.13458G>A (p.Gln4486=) c.13125G>A (p.Gln4375=) c.13338G>A (p.Gln4446=) c.13407G>A (p.Gln4469=) c.10107G>A (p.Gln3369=) c.13818G>A (p.Gln4606=) c.13341G>A (p.Gln4447=) c.13365G>A (p.Gln4455=) c.13419G>A (p.Gln4473=) c.13311G>A (p.Gln4437=) c.13488G>A (p.Gln4496=) c.13476G>A (p.Gln4492=) c.13833G>A (p.Gln4611=) c.13434G>A (p.Gln4478=) c.13422G>A (p.Gln4474=) c.13380G>A (p.Gln4460=) c.13356G>A (p.Gln4452=) c.13326G>A (p.Gln4442=) c.13503G>A (p.Gln4501=) c.13353G>A (p.Gln4451=) c.10053G>A (p.Gln3351=) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143916414_143916415del | CA2562034709 | PLEC | c.13538_13539del (p.Gln4513LeufsTer?) c.13457_13458del (p.Gln4486LeufsTer?) c.13124_13125del (p.Gln4375LeufsTer?) c.13337_13338del (p.Gln4446LeufsTer?) c.13406_13407del (p.Gln4469LeufsTer?) c.10106_10107del (p.Gln3369LeufsTer?) c.13817_13818del (p.Gln4606LeufsTer?) c.13340_13341del (p.Gln4447LeufsTer?) c.13364_13365del (p.Gln4455LeufsTer?) c.13418_13419del (p.Gln4473LeufsTer?) c.13310_13311del (p.Gln4437LeufsTer?) c.13487_13488del (p.Gln4496LeufsTer?) c.13475_13476del (p.Gln4492LeufsTer?) c.13832_13833del (p.Gln4611LeufsTer?) c.13433_13434del (p.Gln4478LeufsTer?) c.13421_13422del (p.Gln4474LeufsTer?) c.13379_13380del (p.Gln4460LeufsTer?) c.13355_13356del (p.Gln4452LeufsTer?) c.13325_13326del (p.Gln4442LeufsTer?) c.13502_13503del (p.Gln4501LeufsTer?) c.13352_13353del (p.Gln4451LeufsTer?) c.10052_10053del (p.Gln3351LeufsTer?) | |
| 8 | g.143916414_143916417del | CA2569737699 | PLEC | c.13536_13539del (p.Gln4513ProfsTer?) c.13455_13458del (p.Gln4486ProfsTer?) c.13122_13125del (p.Gln4375ProfsTer?) c.13335_13338del (p.Gln4446ProfsTer?) c.13404_13407del (p.Gln4469ProfsTer?) c.10104_10107del (p.Gln3369ProfsTer?) c.13815_13818del (p.Gln4606ProfsTer?) c.13338_13341del (p.Gln4447ProfsTer?) c.13362_13365del (p.Gln4455ProfsTer?) c.13416_13419del (p.Gln4473ProfsTer?) c.13308_13311del (p.Gln4437ProfsTer?) c.13485_13488del (p.Gln4496ProfsTer?) c.13473_13476del (p.Gln4492ProfsTer?) c.13830_13833del (p.Gln4611ProfsTer?) c.13431_13434del (p.Gln4478ProfsTer?) c.13419_13422del (p.Gln4474ProfsTer?) c.13377_13380del (p.Gln4460ProfsTer?) c.13353_13356del (p.Gln4452ProfsTer?) c.13323_13326del (p.Gln4442ProfsTer?) c.13500_13503del (p.Gln4501ProfsTer?) c.13350_13353del (p.Gln4451ProfsTer?) c.10050_10053del (p.Gln3351ProfsTer?) | |
| 8 | g.143916415T>A | CA372474591 | PLEC | c.13538A>T (p.Gln4513Leu) c.13457A>T (p.Gln4486Leu) c.13124A>T (p.Gln4375Leu) c.13337A>T (p.Gln4446Leu) c.13406A>T (p.Gln4469Leu) c.10106A>T (p.Gln3369Leu) c.13817A>T (p.Gln4606Leu) c.13340A>T (p.Gln4447Leu) c.13364A>T (p.Gln4455Leu) c.13418A>T (p.Gln4473Leu) c.13310A>T (p.Gln4437Leu) c.13487A>T (p.Gln4496Leu) c.13475A>T (p.Gln4492Leu) c.13832A>T (p.Gln4611Leu) c.13433A>T (p.Gln4478Leu) c.13421A>T (p.Gln4474Leu) c.13379A>T (p.Gln4460Leu) c.13355A>T (p.Gln4452Leu) c.13325A>T (p.Gln4442Leu) c.13502A>T (p.Gln4501Leu) c.13352A>T (p.Gln4451Leu) c.10052A>T (p.Gln3351Leu) | |
| 8 | g.143916415T>C | CA4923814 | PLEC | c.13538A>G (p.Gln4513Arg) c.13457A>G (p.Gln4486Arg) c.13124A>G (p.Gln4375Arg) c.13337A>G (p.Gln4446Arg) c.13406A>G (p.Gln4469Arg) c.10106A>G (p.Gln3369Arg) c.13817A>G (p.Gln4606Arg) c.13340A>G (p.Gln4447Arg) c.13364A>G (p.Gln4455Arg) c.13418A>G (p.Gln4473Arg) c.13310A>G (p.Gln4437Arg) c.13487A>G (p.Gln4496Arg) c.13475A>G (p.Gln4492Arg) c.13832A>G (p.Gln4611Arg) c.13433A>G (p.Gln4478Arg) c.13421A>G (p.Gln4474Arg) c.13379A>G (p.Gln4460Arg) c.13355A>G (p.Gln4452Arg) c.13325A>G (p.Gln4442Arg) c.13502A>G (p.Gln4501Arg) c.13352A>G (p.Gln4451Arg) c.10052A>G (p.Gln3351Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143916415T>G | CA372474594 | PLEC | c.13538A>C (p.Gln4513Pro) c.13457A>C (p.Gln4486Pro) c.13124A>C (p.Gln4375Pro) c.13337A>C (p.Gln4446Pro) c.13406A>C (p.Gln4469Pro) c.10106A>C (p.Gln3369Pro) c.13817A>C (p.Gln4606Pro) c.13340A>C (p.Gln4447Pro) c.13364A>C (p.Gln4455Pro) c.13418A>C (p.Gln4473Pro) c.13310A>C (p.Gln4437Pro) c.13487A>C (p.Gln4496Pro) c.13475A>C (p.Gln4492Pro) c.13832A>C (p.Gln4611Pro) c.13433A>C (p.Gln4478Pro) c.13421A>C (p.Gln4474Pro) c.13379A>C (p.Gln4460Pro) c.13355A>C (p.Gln4452Pro) c.13325A>C (p.Gln4442Pro) c.13502A>C (p.Gln4501Pro) c.13352A>C (p.Gln4451Pro) c.10052A>C (p.Gln3351Pro) | gnomAD v4 |
| 8 | g.143916415T= | CA1826037121 | PLEC | c.13538A= (p.Gln4513=) c.13457A= (p.Gln4486=) c.13124A= (p.Gln4375=) c.13337A= (p.Gln4446=) c.13406A= (p.Gln4469=) c.10106A= (p.Gln3369=) c.13817A= (p.Gln4606=) c.13340A= (p.Gln4447=) c.13364A= (p.Gln4455=) c.13418A= (p.Gln4473=) c.13310A= (p.Gln4437=) c.13487A= (p.Gln4496=) c.13475A= (p.Gln4492=) c.13832A= (p.Gln4611=) c.13433A= (p.Gln4478=) c.13421A= (p.Gln4474=) c.13379A= (p.Gln4460=) c.13355A= (p.Gln4452=) c.13325A= (p.Gln4442=) c.13502A= (p.Gln4501=) c.13352A= (p.Gln4451=) c.10052A= (p.Gln3351=) | |
| 8 | g.143916416G>A | CA372474596 | PLEC | c.13537C>T (p.Gln4513Ter) c.13456C>T (p.Gln4486Ter) c.13123C>T (p.Gln4375Ter) c.13336C>T (p.Gln4446Ter) c.13405C>T (p.Gln4469Ter) c.10105C>T (p.Gln3369Ter) c.13816C>T (p.Gln4606Ter) c.13339C>T (p.Gln4447Ter) c.13363C>T (p.Gln4455Ter) c.13417C>T (p.Gln4473Ter) c.13309C>T (p.Gln4437Ter) c.13486C>T (p.Gln4496Ter) c.13474C>T (p.Gln4492Ter) c.13831C>T (p.Gln4611Ter) c.13432C>T (p.Gln4478Ter) c.13420C>T (p.Gln4474Ter) c.13378C>T (p.Gln4460Ter) c.13354C>T (p.Gln4452Ter) c.13324C>T (p.Gln4442Ter) c.13501C>T (p.Gln4501Ter) c.13351C>T (p.Gln4451Ter) c.10051C>T (p.Gln3351Ter) | dbSNP |
| 8 | g.143916416G>C | CA372474601 | PLEC | c.13537C>G (p.Gln4513Glu) c.13456C>G (p.Gln4486Glu) c.13123C>G (p.Gln4375Glu) c.13336C>G (p.Gln4446Glu) c.13405C>G (p.Gln4469Glu) c.10105C>G (p.Gln3369Glu) c.13816C>G (p.Gln4606Glu) c.13339C>G (p.Gln4447Glu) c.13363C>G (p.Gln4455Glu) c.13417C>G (p.Gln4473Glu) c.13309C>G (p.Gln4437Glu) c.13486C>G (p.Gln4496Glu) c.13474C>G (p.Gln4492Glu) c.13831C>G (p.Gln4611Glu) c.13432C>G (p.Gln4478Glu) c.13420C>G (p.Gln4474Glu) c.13378C>G (p.Gln4460Glu) c.13354C>G (p.Gln4452Glu) c.13324C>G (p.Gln4442Glu) c.13501C>G (p.Gln4501Glu) c.13351C>G (p.Gln4451Glu) c.10051C>G (p.Gln3351Glu) | |
| 8 | g.143916416G= | CA1826037123 | PLEC | c.13537C= (p.Gln4513=) c.13456C= (p.Gln4486=) c.13123C= (p.Gln4375=) c.13336C= (p.Gln4446=) c.13405C= (p.Gln4469=) c.10105C= (p.Gln3369=) c.13816C= (p.Gln4606=) c.13339C= (p.Gln4447=) c.13363C= (p.Gln4455=) c.13417C= (p.Gln4473=) c.13309C= (p.Gln4437=) c.13486C= (p.Gln4496=) c.13474C= (p.Gln4492=) c.13831C= (p.Gln4611=) c.13432C= (p.Gln4478=) c.13420C= (p.Gln4474=) c.13378C= (p.Gln4460=) c.13354C= (p.Gln4452=) c.13324C= (p.Gln4442=) c.13501C= (p.Gln4501=) c.13351C= (p.Gln4451=) c.10051C= (p.Gln3351=) | |
| 8 | g.143916416G>T | CA372474599 | PLEC | c.13537C>A (p.Gln4513Lys) c.13456C>A (p.Gln4486Lys) c.13123C>A (p.Gln4375Lys) c.13336C>A (p.Gln4446Lys) c.13405C>A (p.Gln4469Lys) c.10105C>A (p.Gln3369Lys) c.13816C>A (p.Gln4606Lys) c.13339C>A (p.Gln4447Lys) c.13363C>A (p.Gln4455Lys) c.13417C>A (p.Gln4473Lys) c.13309C>A (p.Gln4437Lys) c.13486C>A (p.Gln4496Lys) c.13474C>A (p.Gln4492Lys) c.13831C>A (p.Gln4611Lys) c.13432C>A (p.Gln4478Lys) c.13420C>A (p.Gln4474Lys) c.13378C>A (p.Gln4460Lys) c.13354C>A (p.Gln4452Lys) c.13324C>A (p.Gln4442Lys) c.13501C>A (p.Gln4501Lys) c.13351C>A (p.Gln4451Lys) c.10051C>A (p.Gln3351Lys) | |
| 8 | g.143916417C>A | CA463526447 | PLEC | c.13536G>T (p.Ala4512=) c.13455G>T (p.Ala4485=) c.13122G>T (p.Ala4374=) c.13335G>T (p.Ala4445=) c.13404G>T (p.Ala4468=) c.10104G>T (p.Ala3368=) c.13815G>T (p.Ala4605=) c.13338G>T (p.Ala4446=) c.13362G>T (p.Ala4454=) c.13416G>T (p.Ala4472=) c.13308G>T (p.Ala4436=) c.13485G>T (p.Ala4495=) c.13473G>T (p.Ala4491=) c.13830G>T (p.Ala4610=) c.13431G>T (p.Ala4477=) c.13419G>T (p.Ala4473=) c.13377G>T (p.Ala4459=) c.13353G>T (p.Ala4451=) c.13323G>T (p.Ala4441=) c.13500G>T (p.Ala4500=) c.13350G>T (p.Ala4450=) c.10050G>T (p.Ala3350=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916417C= | CA1826037128 | PLEC | c.13536G= (p.Ala4512=) c.13455G= (p.Ala4485=) c.13122G= (p.Ala4374=) c.13335G= (p.Ala4445=) c.13404G= (p.Ala4468=) c.10104G= (p.Ala3368=) c.13815G= (p.Ala4605=) c.13338G= (p.Ala4446=) c.13362G= (p.Ala4454=) c.13416G= (p.Ala4472=) c.13308G= (p.Ala4436=) c.13485G= (p.Ala4495=) c.13473G= (p.Ala4491=) c.13830G= (p.Ala4610=) c.13431G= (p.Ala4477=) c.13419G= (p.Ala4473=) c.13377G= (p.Ala4459=) c.13353G= (p.Ala4451=) c.13323G= (p.Ala4441=) c.13500G= (p.Ala4500=) c.13350G= (p.Ala4450=) c.10050G= (p.Ala3350=) | |
| 8 | g.143916417C>G | CA463526445 | PLEC | c.13536G>C (p.Ala4512=) c.13455G>C (p.Ala4485=) c.13122G>C (p.Ala4374=) c.13335G>C (p.Ala4445=) c.13404G>C (p.Ala4468=) c.10104G>C (p.Ala3368=) c.13815G>C (p.Ala4605=) c.13338G>C (p.Ala4446=) c.13362G>C (p.Ala4454=) c.13416G>C (p.Ala4472=) c.13308G>C (p.Ala4436=) c.13485G>C (p.Ala4495=) c.13473G>C (p.Ala4491=) c.13830G>C (p.Ala4610=) c.13431G>C (p.Ala4477=) c.13419G>C (p.Ala4473=) c.13377G>C (p.Ala4459=) c.13353G>C (p.Ala4451=) c.13323G>C (p.Ala4441=) c.13500G>C (p.Ala4500=) c.13350G>C (p.Ala4450=) c.10050G>C (p.Ala3350=) | |
| 8 | g.143916417C>T | CA4923815 | PLEC | c.13536G>A (p.Ala4512=) c.13455G>A (p.Ala4485=) c.13122G>A (p.Ala4374=) c.13335G>A (p.Ala4445=) c.13404G>A (p.Ala4468=) c.10104G>A (p.Ala3368=) c.13815G>A (p.Ala4605=) c.13338G>A (p.Ala4446=) c.13362G>A (p.Ala4454=) c.13416G>A (p.Ala4472=) c.13308G>A (p.Ala4436=) c.13485G>A (p.Ala4495=) c.13473G>A (p.Ala4491=) c.13830G>A (p.Ala4610=) c.13431G>A (p.Ala4477=) c.13419G>A (p.Ala4473=) c.13377G>A (p.Ala4459=) c.13353G>A (p.Ala4451=) c.13323G>A (p.Ala4441=) c.13500G>A (p.Ala4500=) c.13350G>A (p.Ala4450=) c.10050G>A (p.Ala3350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143916418G>A | CA4923816 | PLEC | c.13535C>T (p.Ala4512Val) c.13454C>T (p.Ala4485Val) c.13121C>T (p.Ala4374Val) c.13334C>T (p.Ala4445Val) c.13403C>T (p.Ala4468Val) c.10103C>T (p.Ala3368Val) c.13814C>T (p.Ala4605Val) c.13337C>T (p.Ala4446Val) c.13361C>T (p.Ala4454Val) c.13415C>T (p.Ala4472Val) c.13307C>T (p.Ala4436Val) c.13484C>T (p.Ala4495Val) c.13472C>T (p.Ala4491Val) c.13829C>T (p.Ala4610Val) c.13430C>T (p.Ala4477Val) c.13418C>T (p.Ala4473Val) c.13376C>T (p.Ala4459Val) c.13352C>T (p.Ala4451Val) c.13322C>T (p.Ala4441Val) c.13499C>T (p.Ala4500Val) c.13349C>T (p.Ala4450Val) c.10049C>T (p.Ala3350Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916418G>C | CA372474605 | PLEC | c.13535C>G (p.Ala4512Gly) c.13454C>G (p.Ala4485Gly) c.13121C>G (p.Ala4374Gly) c.13334C>G (p.Ala4445Gly) c.13403C>G (p.Ala4468Gly) c.10103C>G (p.Ala3368Gly) c.13814C>G (p.Ala4605Gly) c.13337C>G (p.Ala4446Gly) c.13361C>G (p.Ala4454Gly) c.13415C>G (p.Ala4472Gly) c.13307C>G (p.Ala4436Gly) c.13484C>G (p.Ala4495Gly) c.13472C>G (p.Ala4491Gly) c.13829C>G (p.Ala4610Gly) c.13430C>G (p.Ala4477Gly) c.13418C>G (p.Ala4473Gly) c.13376C>G (p.Ala4459Gly) c.13352C>G (p.Ala4451Gly) c.13322C>G (p.Ala4441Gly) c.13499C>G (p.Ala4500Gly) c.13349C>G (p.Ala4450Gly) c.10049C>G (p.Ala3350Gly) | |
| 8 | g.143916418G= | CA1826037133 | PLEC | c.13535C= (p.Ala4512=) c.13454C= (p.Ala4485=) c.13121C= (p.Ala4374=) c.13334C= (p.Ala4445=) c.13403C= (p.Ala4468=) c.10103C= (p.Ala3368=) c.13814C= (p.Ala4605=) c.13337C= (p.Ala4446=) c.13361C= (p.Ala4454=) c.13415C= (p.Ala4472=) c.13307C= (p.Ala4436=) c.13484C= (p.Ala4495=) c.13472C= (p.Ala4491=) c.13829C= (p.Ala4610=) c.13430C= (p.Ala4477=) c.13418C= (p.Ala4473=) c.13376C= (p.Ala4459=) c.13352C= (p.Ala4451=) c.13322C= (p.Ala4441=) c.13499C= (p.Ala4500=) c.13349C= (p.Ala4450=) c.10049C= (p.Ala3350=) | |
| 8 | g.143916418G>T | CA372474607 | PLEC | c.13535C>A (p.Ala4512Glu) c.13454C>A (p.Ala4485Glu) c.13121C>A (p.Ala4374Glu) c.13334C>A (p.Ala4445Glu) c.13403C>A (p.Ala4468Glu) c.10103C>A (p.Ala3368Glu) c.13814C>A (p.Ala4605Glu) c.13337C>A (p.Ala4446Glu) c.13361C>A (p.Ala4454Glu) c.13415C>A (p.Ala4472Glu) c.13307C>A (p.Ala4436Glu) c.13484C>A (p.Ala4495Glu) c.13472C>A (p.Ala4491Glu) c.13829C>A (p.Ala4610Glu) c.13430C>A (p.Ala4477Glu) c.13418C>A (p.Ala4473Glu) c.13376C>A (p.Ala4459Glu) c.13352C>A (p.Ala4451Glu) c.13322C>A (p.Ala4441Glu) c.13499C>A (p.Ala4500Glu) c.13349C>A (p.Ala4450Glu) c.10049C>A (p.Ala3350Glu) | |
| 8 | g.143916419C>A | CA372474609 | PLEC | c.13534G>T (p.Ala4512Ser) c.13453G>T (p.Ala4485Ser) c.13120G>T (p.Ala4374Ser) c.13333G>T (p.Ala4445Ser) c.13402G>T (p.Ala4468Ser) c.10102G>T (p.Ala3368Ser) c.13813G>T (p.Ala4605Ser) c.13336G>T (p.Ala4446Ser) c.13360G>T (p.Ala4454Ser) c.13414G>T (p.Ala4472Ser) c.13306G>T (p.Ala4436Ser) c.13483G>T (p.Ala4495Ser) c.13471G>T (p.Ala4491Ser) c.13828G>T (p.Ala4610Ser) c.13429G>T (p.Ala4477Ser) c.13417G>T (p.Ala4473Ser) c.13375G>T (p.Ala4459Ser) c.13351G>T (p.Ala4451Ser) c.13321G>T (p.Ala4441Ser) c.13498G>T (p.Ala4500Ser) c.13348G>T (p.Ala4450Ser) c.10048G>T (p.Ala3350Ser) | |
| 8 | g.143916419C= | CA1826037143 | PLEC | c.13534G= (p.Ala4512=) c.13453G= (p.Ala4485=) c.13120G= (p.Ala4374=) c.13333G= (p.Ala4445=) c.13402G= (p.Ala4468=) c.10102G= (p.Ala3368=) c.13813G= (p.Ala4605=) c.13336G= (p.Ala4446=) c.13360G= (p.Ala4454=) c.13414G= (p.Ala4472=) c.13306G= (p.Ala4436=) c.13483G= (p.Ala4495=) c.13471G= (p.Ala4491=) c.13828G= (p.Ala4610=) c.13429G= (p.Ala4477=) c.13417G= (p.Ala4473=) c.13375G= (p.Ala4459=) c.13351G= (p.Ala4451=) c.13321G= (p.Ala4441=) c.13498G= (p.Ala4500=) c.13348G= (p.Ala4450=) c.10048G= (p.Ala3350=) | |
| 8 | g.143916419C>G | CA372474611 | PLEC | c.13534G>C (p.Ala4512Pro) c.13453G>C (p.Ala4485Pro) c.13120G>C (p.Ala4374Pro) c.13333G>C (p.Ala4445Pro) c.13402G>C (p.Ala4468Pro) c.10102G>C (p.Ala3368Pro) c.13813G>C (p.Ala4605Pro) c.13336G>C (p.Ala4446Pro) c.13360G>C (p.Ala4454Pro) c.13414G>C (p.Ala4472Pro) c.13306G>C (p.Ala4436Pro) c.13483G>C (p.Ala4495Pro) c.13471G>C (p.Ala4491Pro) c.13828G>C (p.Ala4610Pro) c.13429G>C (p.Ala4477Pro) c.13417G>C (p.Ala4473Pro) c.13375G>C (p.Ala4459Pro) c.13351G>C (p.Ala4451Pro) c.13321G>C (p.Ala4441Pro) c.13498G>C (p.Ala4500Pro) c.13348G>C (p.Ala4450Pro) c.10048G>C (p.Ala3350Pro) | |
| 8 | g.143916419C>T | CA146295 | PLEC | c.13534G>A (p.Ala4512Thr) c.13453G>A (p.Ala4485Thr) c.13120G>A (p.Ala4374Thr) c.13333G>A (p.Ala4445Thr) c.13402G>A (p.Ala4468Thr) c.10102G>A (p.Ala3368Thr) c.13813G>A (p.Ala4605Thr) c.13336G>A (p.Ala4446Thr) c.13360G>A (p.Ala4454Thr) c.13414G>A (p.Ala4472Thr) c.13306G>A (p.Ala4436Thr) c.13483G>A (p.Ala4495Thr) c.13471G>A (p.Ala4491Thr) c.13828G>A (p.Ala4610Thr) c.13429G>A (p.Ala4477Thr) c.13417G>A (p.Ala4473Thr) c.13375G>A (p.Ala4459Thr) c.13351G>A (p.Ala4451Thr) c.13321G>A (p.Ala4441Thr) c.13498G>A (p.Ala4500Thr) c.13348G>A (p.Ala4450Thr) c.10048G>A (p.Ala3350Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916420G>A | CA4923817 | PLEC | c.13533C>T (p.Ala4511=) c.13452C>T (p.Ala4484=) c.13119C>T (p.Ala4373=) c.13332C>T (p.Ala4444=) c.13401C>T (p.Ala4467=) c.10101C>T (p.Ala3367=) c.13812C>T (p.Ala4604=) c.13335C>T (p.Ala4445=) c.13359C>T (p.Ala4453=) c.13413C>T (p.Ala4471=) c.13305C>T (p.Ala4435=) c.13482C>T (p.Ala4494=) c.13470C>T (p.Ala4490=) c.13827C>T (p.Ala4609=) c.13428C>T (p.Ala4476=) c.13416C>T (p.Ala4472=) c.13374C>T (p.Ala4458=) c.13350C>T (p.Ala4450=) c.13320C>T (p.Ala4440=) c.13497C>T (p.Ala4499=) c.13347C>T (p.Ala4449=) c.10047C>T (p.Ala3349=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143916420G>C | CA463526452 | PLEC | c.13533C>G (p.Ala4511=) c.13452C>G (p.Ala4484=) c.13119C>G (p.Ala4373=) c.13332C>G (p.Ala4444=) c.13401C>G (p.Ala4467=) c.10101C>G (p.Ala3367=) c.13812C>G (p.Ala4604=) c.13335C>G (p.Ala4445=) c.13359C>G (p.Ala4453=) c.13413C>G (p.Ala4471=) c.13305C>G (p.Ala4435=) c.13482C>G (p.Ala4494=) c.13470C>G (p.Ala4490=) c.13827C>G (p.Ala4609=) c.13428C>G (p.Ala4476=) c.13416C>G (p.Ala4472=) c.13374C>G (p.Ala4458=) c.13350C>G (p.Ala4450=) c.13320C>G (p.Ala4440=) c.13497C>G (p.Ala4499=) c.13347C>G (p.Ala4449=) c.10047C>G (p.Ala3349=) | |
| 8 | g.143916420G= | CA1826037149 | PLEC | c.13533C= (p.Ala4511=) c.13452C= (p.Ala4484=) c.13119C= (p.Ala4373=) c.13332C= (p.Ala4444=) c.13401C= (p.Ala4467=) c.10101C= (p.Ala3367=) c.13812C= (p.Ala4604=) c.13335C= (p.Ala4445=) c.13359C= (p.Ala4453=) c.13413C= (p.Ala4471=) c.13305C= (p.Ala4435=) c.13482C= (p.Ala4494=) c.13470C= (p.Ala4490=) c.13827C= (p.Ala4609=) c.13428C= (p.Ala4476=) c.13416C= (p.Ala4472=) c.13374C= (p.Ala4458=) c.13350C= (p.Ala4450=) c.13320C= (p.Ala4440=) c.13497C= (p.Ala4499=) c.13347C= (p.Ala4449=) c.10047C= (p.Ala3349=) | |
| 8 | g.143916420G>T | CA463526453 | PLEC | c.13533C>A (p.Ala4511=) c.13452C>A (p.Ala4484=) c.13119C>A (p.Ala4373=) c.13332C>A (p.Ala4444=) c.13401C>A (p.Ala4467=) c.10101C>A (p.Ala3367=) c.13812C>A (p.Ala4604=) c.13335C>A (p.Ala4445=) c.13359C>A (p.Ala4453=) c.13413C>A (p.Ala4471=) c.13305C>A (p.Ala4435=) c.13482C>A (p.Ala4494=) c.13470C>A (p.Ala4490=) c.13827C>A (p.Ala4609=) c.13428C>A (p.Ala4476=) c.13416C>A (p.Ala4472=) c.13374C>A (p.Ala4458=) c.13350C>A (p.Ala4450=) c.13320C>A (p.Ala4440=) c.13497C>A (p.Ala4499=) c.13347C>A (p.Ala4449=) c.10047C>A (p.Ala3349=) | gnomAD v4 |
| 8 | g.143916421G>A | CA372474615 | PLEC | c.13532C>T (p.Ala4511Val) c.13451C>T (p.Ala4484Val) c.13118C>T (p.Ala4373Val) c.13331C>T (p.Ala4444Val) c.13400C>T (p.Ala4467Val) c.10100C>T (p.Ala3367Val) c.13811C>T (p.Ala4604Val) c.13334C>T (p.Ala4445Val) c.13358C>T (p.Ala4453Val) c.13412C>T (p.Ala4471Val) c.13304C>T (p.Ala4435Val) c.13481C>T (p.Ala4494Val) c.13469C>T (p.Ala4490Val) c.13826C>T (p.Ala4609Val) c.13427C>T (p.Ala4476Val) c.13415C>T (p.Ala4472Val) c.13373C>T (p.Ala4458Val) c.13349C>T (p.Ala4450Val) c.13319C>T (p.Ala4440Val) c.13496C>T (p.Ala4499Val) c.13346C>T (p.Ala4449Val) c.10046C>T (p.Ala3349Val) | |
| 8 | g.143916421G>C | CA372474616 | PLEC | c.13532C>G (p.Ala4511Gly) c.13451C>G (p.Ala4484Gly) c.13118C>G (p.Ala4373Gly) c.13331C>G (p.Ala4444Gly) c.13400C>G (p.Ala4467Gly) c.10100C>G (p.Ala3367Gly) c.13811C>G (p.Ala4604Gly) c.13334C>G (p.Ala4445Gly) c.13358C>G (p.Ala4453Gly) c.13412C>G (p.Ala4471Gly) c.13304C>G (p.Ala4435Gly) c.13481C>G (p.Ala4494Gly) c.13469C>G (p.Ala4490Gly) c.13826C>G (p.Ala4609Gly) c.13427C>G (p.Ala4476Gly) c.13415C>G (p.Ala4472Gly) c.13373C>G (p.Ala4458Gly) c.13349C>G (p.Ala4450Gly) c.13319C>G (p.Ala4440Gly) c.13496C>G (p.Ala4499Gly) c.13346C>G (p.Ala4449Gly) c.10046C>G (p.Ala3349Gly) | dbSNP |
| 8 | g.143916421G= | CA1826037151 | PLEC | c.13532C= (p.Ala4511=) c.13451C= (p.Ala4484=) c.13118C= (p.Ala4373=) c.13331C= (p.Ala4444=) c.13400C= (p.Ala4467=) c.10100C= (p.Ala3367=) c.13811C= (p.Ala4604=) c.13334C= (p.Ala4445=) c.13358C= (p.Ala4453=) c.13412C= (p.Ala4471=) c.13304C= (p.Ala4435=) c.13481C= (p.Ala4494=) c.13469C= (p.Ala4490=) c.13826C= (p.Ala4609=) c.13427C= (p.Ala4476=) c.13415C= (p.Ala4472=) c.13373C= (p.Ala4458=) c.13349C= (p.Ala4450=) c.13319C= (p.Ala4440=) c.13496C= (p.Ala4499=) c.13346C= (p.Ala4449=) c.10046C= (p.Ala3349=) | |
| 8 | g.143916421G>T | CA372474618 | PLEC | c.13532C>A (p.Ala4511Asp) c.13451C>A (p.Ala4484Asp) c.13118C>A (p.Ala4373Asp) c.13331C>A (p.Ala4444Asp) c.13400C>A (p.Ala4467Asp) c.10100C>A (p.Ala3367Asp) c.13811C>A (p.Ala4604Asp) c.13334C>A (p.Ala4445Asp) c.13358C>A (p.Ala4453Asp) c.13412C>A (p.Ala4471Asp) c.13304C>A (p.Ala4435Asp) c.13481C>A (p.Ala4494Asp) c.13469C>A (p.Ala4490Asp) c.13826C>A (p.Ala4609Asp) c.13427C>A (p.Ala4476Asp) c.13415C>A (p.Ala4472Asp) c.13373C>A (p.Ala4458Asp) c.13349C>A (p.Ala4450Asp) c.13319C>A (p.Ala4440Asp) c.13496C>A (p.Ala4499Asp) c.13346C>A (p.Ala4449Asp) c.10046C>A (p.Ala3349Asp) | |
| 8 | g.143916422C>A | CA372474624 | PLEC | c.13531G>T (p.Ala4511Ser) c.13450G>T (p.Ala4484Ser) c.13117G>T (p.Ala4373Ser) c.13330G>T (p.Ala4444Ser) c.13399G>T (p.Ala4467Ser) c.10099G>T (p.Ala3367Ser) c.13810G>T (p.Ala4604Ser) c.13333G>T (p.Ala4445Ser) c.13357G>T (p.Ala4453Ser) c.13411G>T (p.Ala4471Ser) c.13303G>T (p.Ala4435Ser) c.13480G>T (p.Ala4494Ser) c.13468G>T (p.Ala4490Ser) c.13825G>T (p.Ala4609Ser) c.13426G>T (p.Ala4476Ser) c.13414G>T (p.Ala4472Ser) c.13372G>T (p.Ala4458Ser) c.13348G>T (p.Ala4450Ser) c.13318G>T (p.Ala4440Ser) c.13495G>T (p.Ala4499Ser) c.13345G>T (p.Ala4449Ser) c.10045G>T (p.Ala3349Ser) | |
| 8 | g.143916422C= | CA1826037153 | PLEC | c.13531G= (p.Ala4511=) c.13450G= (p.Ala4484=) c.13117G= (p.Ala4373=) c.13330G= (p.Ala4444=) c.13399G= (p.Ala4467=) c.10099G= (p.Ala3367=) c.13810G= (p.Ala4604=) c.13333G= (p.Ala4445=) c.13357G= (p.Ala4453=) c.13411G= (p.Ala4471=) c.13303G= (p.Ala4435=) c.13480G= (p.Ala4494=) c.13468G= (p.Ala4490=) c.13825G= (p.Ala4609=) c.13426G= (p.Ala4476=) c.13414G= (p.Ala4472=) c.13372G= (p.Ala4458=) c.13348G= (p.Ala4450=) c.13318G= (p.Ala4440=) c.13495G= (p.Ala4499=) c.13345G= (p.Ala4449=) c.10045G= (p.Ala3349=) | |
| 8 | g.143916422C>G | CA372474622 | PLEC | c.13531G>C (p.Ala4511Pro) c.13450G>C (p.Ala4484Pro) c.13117G>C (p.Ala4373Pro) c.13330G>C (p.Ala4444Pro) c.13399G>C (p.Ala4467Pro) c.10099G>C (p.Ala3367Pro) c.13810G>C (p.Ala4604Pro) c.13333G>C (p.Ala4445Pro) c.13357G>C (p.Ala4453Pro) c.13411G>C (p.Ala4471Pro) c.13303G>C (p.Ala4435Pro) c.13480G>C (p.Ala4494Pro) c.13468G>C (p.Ala4490Pro) c.13825G>C (p.Ala4609Pro) c.13426G>C (p.Ala4476Pro) c.13414G>C (p.Ala4472Pro) c.13372G>C (p.Ala4458Pro) c.13348G>C (p.Ala4450Pro) c.13318G>C (p.Ala4440Pro) c.13495G>C (p.Ala4499Pro) c.13345G>C (p.Ala4449Pro) c.10045G>C (p.Ala3349Pro) | |
| 8 | g.143916422C>T | CA372474621 | PLEC | c.13531G>A (p.Ala4511Thr) c.13450G>A (p.Ala4484Thr) c.13117G>A (p.Ala4373Thr) c.13330G>A (p.Ala4444Thr) c.13399G>A (p.Ala4467Thr) c.10099G>A (p.Ala3367Thr) c.13810G>A (p.Ala4604Thr) c.13333G>A (p.Ala4445Thr) c.13357G>A (p.Ala4453Thr) c.13411G>A (p.Ala4471Thr) c.13303G>A (p.Ala4435Thr) c.13480G>A (p.Ala4494Thr) c.13468G>A (p.Ala4490Thr) c.13825G>A (p.Ala4609Thr) c.13426G>A (p.Ala4476Thr) c.13414G>A (p.Ala4472Thr) c.13372G>A (p.Ala4458Thr) c.13348G>A (p.Ala4450Thr) c.13318G>A (p.Ala4440Thr) c.13495G>A (p.Ala4499Thr) c.13345G>A (p.Ala4449Thr) c.10045G>A (p.Ala3349Thr) | dbSNP gnomAD v2 |