UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143916524T>A | CA249137 | PLEC | c.13429A>T (p.Lys4477Ter) c.13348A>T (p.Lys4450Ter) c.13015A>T (p.Lys4339Ter) c.13228A>T (p.Lys4410Ter) c.13297A>T (p.Lys4433Ter) c.9997A>T (p.Lys3333Ter) c.13708A>T (p.Lys4570Ter) c.13231A>T (p.Lys4411Ter) c.13255A>T (p.Lys4419Ter) c.13309A>T (p.Lys4437Ter) c.13201A>T (p.Lys4401Ter) c.13378A>T (p.Lys4460Ter) c.13366A>T (p.Lys4456Ter) c.13723A>T (p.Lys4575Ter) c.13324A>T (p.Lys4442Ter) c.13312A>T (p.Lys4438Ter) c.13270A>T (p.Lys4424Ter) c.13246A>T (p.Lys4416Ter) c.13216A>T (p.Lys4406Ter) c.13393A>T (p.Lys4465Ter) c.13243A>T (p.Lys4415Ter) c.9943A>T (p.Lys3315Ter) | ClinVar dbSNP |
| 8 | g.143916524T>C | CA372475702 | PLEC | c.13429A>G (p.Lys4477Glu) c.13348A>G (p.Lys4450Glu) c.13015A>G (p.Lys4339Glu) c.13228A>G (p.Lys4410Glu) c.13297A>G (p.Lys4433Glu) c.9997A>G (p.Lys3333Glu) c.13708A>G (p.Lys4570Glu) c.13231A>G (p.Lys4411Glu) c.13255A>G (p.Lys4419Glu) c.13309A>G (p.Lys4437Glu) c.13201A>G (p.Lys4401Glu) c.13378A>G (p.Lys4460Glu) c.13366A>G (p.Lys4456Glu) c.13723A>G (p.Lys4575Glu) c.13324A>G (p.Lys4442Glu) c.13312A>G (p.Lys4438Glu) c.13270A>G (p.Lys4424Glu) c.13246A>G (p.Lys4416Glu) c.13216A>G (p.Lys4406Glu) c.13393A>G (p.Lys4465Glu) c.13243A>G (p.Lys4415Glu) c.9943A>G (p.Lys3315Glu) | |
| 8 | g.143916524T>G | CA372475703 | PLEC | c.13429A>C (p.Lys4477Gln) c.13348A>C (p.Lys4450Gln) c.13015A>C (p.Lys4339Gln) c.13228A>C (p.Lys4410Gln) c.13297A>C (p.Lys4433Gln) c.9997A>C (p.Lys3333Gln) c.13708A>C (p.Lys4570Gln) c.13231A>C (p.Lys4411Gln) c.13255A>C (p.Lys4419Gln) c.13309A>C (p.Lys4437Gln) c.13201A>C (p.Lys4401Gln) c.13378A>C (p.Lys4460Gln) c.13366A>C (p.Lys4456Gln) c.13723A>C (p.Lys4575Gln) c.13324A>C (p.Lys4442Gln) c.13312A>C (p.Lys4438Gln) c.13270A>C (p.Lys4424Gln) c.13246A>C (p.Lys4416Gln) c.13216A>C (p.Lys4406Gln) c.13393A>C (p.Lys4465Gln) c.13243A>C (p.Lys4415Gln) c.9943A>C (p.Lys3315Gln) | |
| 8 | g.143916524T= | CA1826037318 | PLEC | c.13429A= (p.Lys4477=) c.13348A= (p.Lys4450=) c.13015A= (p.Lys4339=) c.13228A= (p.Lys4410=) c.13297A= (p.Lys4433=) c.9997A= (p.Lys3333=) c.13708A= (p.Lys4570=) c.13231A= (p.Lys4411=) c.13255A= (p.Lys4419=) c.13309A= (p.Lys4437=) c.13201A= (p.Lys4401=) c.13378A= (p.Lys4460=) c.13366A= (p.Lys4456=) c.13723A= (p.Lys4575=) c.13324A= (p.Lys4442=) c.13312A= (p.Lys4438=) c.13270A= (p.Lys4424=) c.13246A= (p.Lys4416=) c.13216A= (p.Lys4406=) c.13393A= (p.Lys4465=) c.13243A= (p.Lys4415=) c.9943A= (p.Lys3315=) | |
| 8 | g.143916525G>A | CA4923848 | PLEC | c.13428C>T (p.Ser4476=) c.13347C>T (p.Ser4449=) c.13014C>T (p.Ser4338=) c.13227C>T (p.Ser4409=) c.13296C>T (p.Ser4432=) c.9996C>T (p.Ser3332=) c.13707C>T (p.Ser4569=) c.13230C>T (p.Ser4410=) c.13254C>T (p.Ser4418=) c.13308C>T (p.Ser4436=) c.13200C>T (p.Ser4400=) c.13377C>T (p.Ser4459=) c.13365C>T (p.Ser4455=) c.13722C>T (p.Ser4574=) c.13323C>T (p.Ser4441=) c.13311C>T (p.Ser4437=) c.13269C>T (p.Ser4423=) c.13245C>T (p.Ser4415=) c.13215C>T (p.Ser4405=) c.13392C>T (p.Ser4464=) c.13242C>T (p.Ser4414=) c.9942C>T (p.Ser3314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143916525G>C | CA463525662 | PLEC | c.13428C>G (p.Ser4476=) c.13347C>G (p.Ser4449=) c.13014C>G (p.Ser4338=) c.13227C>G (p.Ser4409=) c.13296C>G (p.Ser4432=) c.9996C>G (p.Ser3332=) c.13707C>G (p.Ser4569=) c.13230C>G (p.Ser4410=) c.13254C>G (p.Ser4418=) c.13308C>G (p.Ser4436=) c.13200C>G (p.Ser4400=) c.13377C>G (p.Ser4459=) c.13365C>G (p.Ser4455=) c.13722C>G (p.Ser4574=) c.13323C>G (p.Ser4441=) c.13311C>G (p.Ser4437=) c.13269C>G (p.Ser4423=) c.13245C>G (p.Ser4415=) c.13215C>G (p.Ser4405=) c.13392C>G (p.Ser4464=) c.13242C>G (p.Ser4414=) c.9942C>G (p.Ser3314=) | dbSNP gnomAD v4 |
| 8 | g.143916525G= | CA1826037323 | PLEC | c.13428C= (p.Ser4476=) c.13347C= (p.Ser4449=) c.13014C= (p.Ser4338=) c.13227C= (p.Ser4409=) c.13296C= (p.Ser4432=) c.9996C= (p.Ser3332=) c.13707C= (p.Ser4569=) c.13230C= (p.Ser4410=) c.13254C= (p.Ser4418=) c.13308C= (p.Ser4436=) c.13200C= (p.Ser4400=) c.13377C= (p.Ser4459=) c.13365C= (p.Ser4455=) c.13722C= (p.Ser4574=) c.13323C= (p.Ser4441=) c.13311C= (p.Ser4437=) c.13269C= (p.Ser4423=) c.13245C= (p.Ser4415=) c.13215C= (p.Ser4405=) c.13392C= (p.Ser4464=) c.13242C= (p.Ser4414=) c.9942C= (p.Ser3314=) | |
| 8 | g.143916525G>T | CA463525664 | PLEC | c.13428C>A (p.Ser4476=) c.13347C>A (p.Ser4449=) c.13014C>A (p.Ser4338=) c.13227C>A (p.Ser4409=) c.13296C>A (p.Ser4432=) c.9996C>A (p.Ser3332=) c.13707C>A (p.Ser4569=) c.13230C>A (p.Ser4410=) c.13254C>A (p.Ser4418=) c.13308C>A (p.Ser4436=) c.13200C>A (p.Ser4400=) c.13377C>A (p.Ser4459=) c.13365C>A (p.Ser4455=) c.13722C>A (p.Ser4574=) c.13323C>A (p.Ser4441=) c.13311C>A (p.Ser4437=) c.13269C>A (p.Ser4423=) c.13245C>A (p.Ser4415=) c.13215C>A (p.Ser4405=) c.13392C>A (p.Ser4464=) c.13242C>A (p.Ser4414=) c.9942C>A (p.Ser3314=) | |
| 8 | g.143916526G>A | CA372475704 | PLEC | c.13427C>T (p.Ser4476Phe) c.13346C>T (p.Ser4449Phe) c.13013C>T (p.Ser4338Phe) c.13226C>T (p.Ser4409Phe) c.13295C>T (p.Ser4432Phe) c.9995C>T (p.Ser3332Phe) c.13706C>T (p.Ser4569Phe) c.13229C>T (p.Ser4410Phe) c.13253C>T (p.Ser4418Phe) c.13307C>T (p.Ser4436Phe) c.13199C>T (p.Ser4400Phe) c.13376C>T (p.Ser4459Phe) c.13364C>T (p.Ser4455Phe) c.13721C>T (p.Ser4574Phe) c.13322C>T (p.Ser4441Phe) c.13310C>T (p.Ser4437Phe) c.13268C>T (p.Ser4423Phe) c.13244C>T (p.Ser4415Phe) c.13214C>T (p.Ser4405Phe) c.13391C>T (p.Ser4464Phe) c.13241C>T (p.Ser4414Phe) c.9941C>T (p.Ser3314Phe) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143916526G>C | CA372475705 | PLEC | c.13427C>G (p.Ser4476Cys) c.13346C>G (p.Ser4449Cys) c.13013C>G (p.Ser4338Cys) c.13226C>G (p.Ser4409Cys) c.13295C>G (p.Ser4432Cys) c.9995C>G (p.Ser3332Cys) c.13706C>G (p.Ser4569Cys) c.13229C>G (p.Ser4410Cys) c.13253C>G (p.Ser4418Cys) c.13307C>G (p.Ser4436Cys) c.13199C>G (p.Ser4400Cys) c.13376C>G (p.Ser4459Cys) c.13364C>G (p.Ser4455Cys) c.13721C>G (p.Ser4574Cys) c.13322C>G (p.Ser4441Cys) c.13310C>G (p.Ser4437Cys) c.13268C>G (p.Ser4423Cys) c.13244C>G (p.Ser4415Cys) c.13214C>G (p.Ser4405Cys) c.13391C>G (p.Ser4464Cys) c.13241C>G (p.Ser4414Cys) c.9941C>G (p.Ser3314Cys) | |
| 8 | g.143916526G>T | CA372475706 | PLEC | c.13427C>A (p.Ser4476Tyr) c.13346C>A (p.Ser4449Tyr) c.13013C>A (p.Ser4338Tyr) c.13226C>A (p.Ser4409Tyr) c.13295C>A (p.Ser4432Tyr) c.9995C>A (p.Ser3332Tyr) c.13706C>A (p.Ser4569Tyr) c.13229C>A (p.Ser4410Tyr) c.13253C>A (p.Ser4418Tyr) c.13307C>A (p.Ser4436Tyr) c.13199C>A (p.Ser4400Tyr) c.13376C>A (p.Ser4459Tyr) c.13364C>A (p.Ser4455Tyr) c.13721C>A (p.Ser4574Tyr) c.13322C>A (p.Ser4441Tyr) c.13310C>A (p.Ser4437Tyr) c.13268C>A (p.Ser4423Tyr) c.13244C>A (p.Ser4415Tyr) c.13214C>A (p.Ser4405Tyr) c.13391C>A (p.Ser4464Tyr) c.13241C>A (p.Ser4414Tyr) c.9941C>A (p.Ser3314Tyr) | |
| 8 | g.143916527A>C | CA372475708 | PLEC | c.13426T>G (p.Ser4476Ala) c.13345T>G (p.Ser4449Ala) c.13012T>G (p.Ser4338Ala) c.13225T>G (p.Ser4409Ala) c.13294T>G (p.Ser4432Ala) c.9994T>G (p.Ser3332Ala) c.13705T>G (p.Ser4569Ala) c.13228T>G (p.Ser4410Ala) c.13252T>G (p.Ser4418Ala) c.13306T>G (p.Ser4436Ala) c.13198T>G (p.Ser4400Ala) c.13375T>G (p.Ser4459Ala) c.13363T>G (p.Ser4455Ala) c.13720T>G (p.Ser4574Ala) c.13321T>G (p.Ser4441Ala) c.13309T>G (p.Ser4437Ala) c.13267T>G (p.Ser4423Ala) c.13243T>G (p.Ser4415Ala) c.13213T>G (p.Ser4405Ala) c.13390T>G (p.Ser4464Ala) c.13240T>G (p.Ser4414Ala) c.9940T>G (p.Ser3314Ala) | |
| 8 | g.143916527A>G | CA372475709 | PLEC | c.13426T>C (p.Ser4476Pro) c.13345T>C (p.Ser4449Pro) c.13012T>C (p.Ser4338Pro) c.13225T>C (p.Ser4409Pro) c.13294T>C (p.Ser4432Pro) c.9994T>C (p.Ser3332Pro) c.13705T>C (p.Ser4569Pro) c.13228T>C (p.Ser4410Pro) c.13252T>C (p.Ser4418Pro) c.13306T>C (p.Ser4436Pro) c.13198T>C (p.Ser4400Pro) c.13375T>C (p.Ser4459Pro) c.13363T>C (p.Ser4455Pro) c.13720T>C (p.Ser4574Pro) c.13321T>C (p.Ser4441Pro) c.13309T>C (p.Ser4437Pro) c.13267T>C (p.Ser4423Pro) c.13243T>C (p.Ser4415Pro) c.13213T>C (p.Ser4405Pro) c.13390T>C (p.Ser4464Pro) c.13240T>C (p.Ser4414Pro) c.9940T>C (p.Ser3314Pro) | |
| 8 | g.143916527A>T | CA372475707 | PLEC | c.13426T>A (p.Ser4476Thr) c.13345T>A (p.Ser4449Thr) c.13012T>A (p.Ser4338Thr) c.13225T>A (p.Ser4409Thr) c.13294T>A (p.Ser4432Thr) c.9994T>A (p.Ser3332Thr) c.13705T>A (p.Ser4569Thr) c.13228T>A (p.Ser4410Thr) c.13252T>A (p.Ser4418Thr) c.13306T>A (p.Ser4436Thr) c.13198T>A (p.Ser4400Thr) c.13375T>A (p.Ser4459Thr) c.13363T>A (p.Ser4455Thr) c.13720T>A (p.Ser4574Thr) c.13321T>A (p.Ser4441Thr) c.13309T>A (p.Ser4437Thr) c.13267T>A (p.Ser4423Thr) c.13243T>A (p.Ser4415Thr) c.13213T>A (p.Ser4405Thr) c.13390T>A (p.Ser4464Thr) c.13240T>A (p.Ser4414Thr) c.9940T>A (p.Ser3314Thr) | |
| 8 | g.143916528G>A | CA463525667 | PLEC | c.13425C>T (p.Tyr4475=) c.13344C>T (p.Tyr4448=) c.13011C>T (p.Tyr4337=) c.13224C>T (p.Tyr4408=) c.13293C>T (p.Tyr4431=) c.9993C>T (p.Tyr3331=) c.13704C>T (p.Tyr4568=) c.13227C>T (p.Tyr4409=) c.13251C>T (p.Tyr4417=) c.13305C>T (p.Tyr4435=) c.13197C>T (p.Tyr4399=) c.13374C>T (p.Tyr4458=) c.13362C>T (p.Tyr4454=) c.13719C>T (p.Tyr4573=) c.13320C>T (p.Tyr4440=) c.13308C>T (p.Tyr4436=) c.13266C>T (p.Tyr4422=) c.13242C>T (p.Tyr4414=) c.13212C>T (p.Tyr4404=) c.13389C>T (p.Tyr4463=) c.13239C>T (p.Tyr4413=) c.9939C>T (p.Tyr3313=) | dbSNP gnomAD v4 |
| 8 | g.143916528G>C | CA372475710 | PLEC | c.13425C>G (p.Tyr4475Ter) c.13344C>G (p.Tyr4448Ter) c.13011C>G (p.Tyr4337Ter) c.13224C>G (p.Tyr4408Ter) c.13293C>G (p.Tyr4431Ter) c.9993C>G (p.Tyr3331Ter) c.13704C>G (p.Tyr4568Ter) c.13227C>G (p.Tyr4409Ter) c.13251C>G (p.Tyr4417Ter) c.13305C>G (p.Tyr4435Ter) c.13197C>G (p.Tyr4399Ter) c.13374C>G (p.Tyr4458Ter) c.13362C>G (p.Tyr4454Ter) c.13719C>G (p.Tyr4573Ter) c.13320C>G (p.Tyr4440Ter) c.13308C>G (p.Tyr4436Ter) c.13266C>G (p.Tyr4422Ter) c.13242C>G (p.Tyr4414Ter) c.13212C>G (p.Tyr4404Ter) c.13389C>G (p.Tyr4463Ter) c.13239C>G (p.Tyr4413Ter) c.9939C>G (p.Tyr3313Ter) | |
| 8 | g.143916528G>T | CA372475711 | PLEC | c.13425C>A (p.Tyr4475Ter) c.13344C>A (p.Tyr4448Ter) c.13011C>A (p.Tyr4337Ter) c.13224C>A (p.Tyr4408Ter) c.13293C>A (p.Tyr4431Ter) c.9993C>A (p.Tyr3331Ter) c.13704C>A (p.Tyr4568Ter) c.13227C>A (p.Tyr4409Ter) c.13251C>A (p.Tyr4417Ter) c.13305C>A (p.Tyr4435Ter) c.13197C>A (p.Tyr4399Ter) c.13374C>A (p.Tyr4458Ter) c.13362C>A (p.Tyr4454Ter) c.13719C>A (p.Tyr4573Ter) c.13320C>A (p.Tyr4440Ter) c.13308C>A (p.Tyr4436Ter) c.13266C>A (p.Tyr4422Ter) c.13242C>A (p.Tyr4414Ter) c.13212C>A (p.Tyr4404Ter) c.13389C>A (p.Tyr4463Ter) c.13239C>A (p.Tyr4413Ter) c.9939C>A (p.Tyr3313Ter) | |
| 8 | g.143916529T>A | CA372475712 | PLEC | c.13424A>T (p.Tyr4475Phe) c.13343A>T (p.Tyr4448Phe) c.13010A>T (p.Tyr4337Phe) c.13223A>T (p.Tyr4408Phe) c.13292A>T (p.Tyr4431Phe) c.9992A>T (p.Tyr3331Phe) c.13703A>T (p.Tyr4568Phe) c.13226A>T (p.Tyr4409Phe) c.13250A>T (p.Tyr4417Phe) c.13304A>T (p.Tyr4435Phe) c.13196A>T (p.Tyr4399Phe) c.13373A>T (p.Tyr4458Phe) c.13361A>T (p.Tyr4454Phe) c.13718A>T (p.Tyr4573Phe) c.13319A>T (p.Tyr4440Phe) c.13307A>T (p.Tyr4436Phe) c.13265A>T (p.Tyr4422Phe) c.13241A>T (p.Tyr4414Phe) c.13211A>T (p.Tyr4404Phe) c.13388A>T (p.Tyr4463Phe) c.13238A>T (p.Tyr4413Phe) c.9938A>T (p.Tyr3313Phe) | gnomAD v4 |
| 8 | g.143916529T>C | CA372475713 | PLEC | c.13424A>G (p.Tyr4475Cys) c.13343A>G (p.Tyr4448Cys) c.13010A>G (p.Tyr4337Cys) c.13223A>G (p.Tyr4408Cys) c.13292A>G (p.Tyr4431Cys) c.9992A>G (p.Tyr3331Cys) c.13703A>G (p.Tyr4568Cys) c.13226A>G (p.Tyr4409Cys) c.13250A>G (p.Tyr4417Cys) c.13304A>G (p.Tyr4435Cys) c.13196A>G (p.Tyr4399Cys) c.13373A>G (p.Tyr4458Cys) c.13361A>G (p.Tyr4454Cys) c.13718A>G (p.Tyr4573Cys) c.13319A>G (p.Tyr4440Cys) c.13307A>G (p.Tyr4436Cys) c.13265A>G (p.Tyr4422Cys) c.13241A>G (p.Tyr4414Cys) c.13211A>G (p.Tyr4404Cys) c.13388A>G (p.Tyr4463Cys) c.13238A>G (p.Tyr4413Cys) c.9938A>G (p.Tyr3313Cys) | |
| 8 | g.143916529T>G | CA372475714 | PLEC | c.13424A>C (p.Tyr4475Ser) c.13343A>C (p.Tyr4448Ser) c.13010A>C (p.Tyr4337Ser) c.13223A>C (p.Tyr4408Ser) c.13292A>C (p.Tyr4431Ser) c.9992A>C (p.Tyr3331Ser) c.13703A>C (p.Tyr4568Ser) c.13226A>C (p.Tyr4409Ser) c.13250A>C (p.Tyr4417Ser) c.13304A>C (p.Tyr4435Ser) c.13196A>C (p.Tyr4399Ser) c.13373A>C (p.Tyr4458Ser) c.13361A>C (p.Tyr4454Ser) c.13718A>C (p.Tyr4573Ser) c.13319A>C (p.Tyr4440Ser) c.13307A>C (p.Tyr4436Ser) c.13265A>C (p.Tyr4422Ser) c.13241A>C (p.Tyr4414Ser) c.13211A>C (p.Tyr4404Ser) c.13388A>C (p.Tyr4463Ser) c.13238A>C (p.Tyr4413Ser) c.9938A>C (p.Tyr3313Ser) | gnomAD v4 |
| 8 | g.143916530A>C | CA372475717 | PLEC | c.13423T>G (p.Tyr4475Asp) c.13342T>G (p.Tyr4448Asp) c.13009T>G (p.Tyr4337Asp) c.13222T>G (p.Tyr4408Asp) c.13291T>G (p.Tyr4431Asp) c.9991T>G (p.Tyr3331Asp) c.13702T>G (p.Tyr4568Asp) c.13225T>G (p.Tyr4409Asp) c.13249T>G (p.Tyr4417Asp) c.13303T>G (p.Tyr4435Asp) c.13195T>G (p.Tyr4399Asp) c.13372T>G (p.Tyr4458Asp) c.13360T>G (p.Tyr4454Asp) c.13717T>G (p.Tyr4573Asp) c.13318T>G (p.Tyr4440Asp) c.13306T>G (p.Tyr4436Asp) c.13264T>G (p.Tyr4422Asp) c.13240T>G (p.Tyr4414Asp) c.13210T>G (p.Tyr4404Asp) c.13387T>G (p.Tyr4463Asp) c.13237T>G (p.Tyr4413Asp) c.9937T>G (p.Tyr3313Asp) | |
| 8 | g.143916530A>G | CA372475716 | PLEC | c.13423T>C (p.Tyr4475His) c.13342T>C (p.Tyr4448His) c.13009T>C (p.Tyr4337His) c.13222T>C (p.Tyr4408His) c.13291T>C (p.Tyr4431His) c.9991T>C (p.Tyr3331His) c.13702T>C (p.Tyr4568His) c.13225T>C (p.Tyr4409His) c.13249T>C (p.Tyr4417His) c.13303T>C (p.Tyr4435His) c.13195T>C (p.Tyr4399His) c.13372T>C (p.Tyr4458His) c.13360T>C (p.Tyr4454His) c.13717T>C (p.Tyr4573His) c.13318T>C (p.Tyr4440His) c.13306T>C (p.Tyr4436His) c.13264T>C (p.Tyr4422His) c.13240T>C (p.Tyr4414His) c.13210T>C (p.Tyr4404His) c.13387T>C (p.Tyr4463His) c.13237T>C (p.Tyr4413His) c.9937T>C (p.Tyr3313His) | |
| 8 | g.143916530A>T | CA372475715 | PLEC | c.13423T>A (p.Tyr4475Asn) c.13342T>A (p.Tyr4448Asn) c.13009T>A (p.Tyr4337Asn) c.13222T>A (p.Tyr4408Asn) c.13291T>A (p.Tyr4431Asn) c.9991T>A (p.Tyr3331Asn) c.13702T>A (p.Tyr4568Asn) c.13225T>A (p.Tyr4409Asn) c.13249T>A (p.Tyr4417Asn) c.13303T>A (p.Tyr4435Asn) c.13195T>A (p.Tyr4399Asn) c.13372T>A (p.Tyr4458Asn) c.13360T>A (p.Tyr4454Asn) c.13717T>A (p.Tyr4573Asn) c.13318T>A (p.Tyr4440Asn) c.13306T>A (p.Tyr4436Asn) c.13264T>A (p.Tyr4422Asn) c.13240T>A (p.Tyr4414Asn) c.13210T>A (p.Tyr4404Asn) c.13387T>A (p.Tyr4463Asn) c.13237T>A (p.Tyr4413Asn) c.9937T>A (p.Tyr3313Asn) | |
| 8 | g.143916531G>A | CA463525669 | PLEC | c.13422C>T (p.Ala4474=) c.13341C>T (p.Ala4447=) c.13008C>T (p.Ala4336=) c.13221C>T (p.Ala4407=) c.13290C>T (p.Ala4430=) c.9990C>T (p.Ala3330=) c.13701C>T (p.Ala4567=) c.13224C>T (p.Ala4408=) c.13248C>T (p.Ala4416=) c.13302C>T (p.Ala4434=) c.13194C>T (p.Ala4398=) c.13371C>T (p.Ala4457=) c.13359C>T (p.Ala4453=) c.13716C>T (p.Ala4572=) c.13317C>T (p.Ala4439=) c.13305C>T (p.Ala4435=) c.13263C>T (p.Ala4421=) c.13239C>T (p.Ala4413=) c.13209C>T (p.Ala4403=) c.13386C>T (p.Ala4462=) c.13236C>T (p.Ala4412=) c.9936C>T (p.Ala3312=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916531G>C | CA463525670 | PLEC | c.13422C>G (p.Ala4474=) c.13341C>G (p.Ala4447=) c.13008C>G (p.Ala4336=) c.13221C>G (p.Ala4407=) c.13290C>G (p.Ala4430=) c.9990C>G (p.Ala3330=) c.13701C>G (p.Ala4567=) c.13224C>G (p.Ala4408=) c.13248C>G (p.Ala4416=) c.13302C>G (p.Ala4434=) c.13194C>G (p.Ala4398=) c.13371C>G (p.Ala4457=) c.13359C>G (p.Ala4453=) c.13716C>G (p.Ala4572=) c.13317C>G (p.Ala4439=) c.13305C>G (p.Ala4435=) c.13263C>G (p.Ala4421=) c.13239C>G (p.Ala4413=) c.13209C>G (p.Ala4403=) c.13386C>G (p.Ala4462=) c.13236C>G (p.Ala4412=) c.9936C>G (p.Ala3312=) | |
| 8 | g.143916531G= | CA1826037326 | PLEC | c.13422C= (p.Ala4474=) c.13341C= (p.Ala4447=) c.13008C= (p.Ala4336=) c.13221C= (p.Ala4407=) c.13290C= (p.Ala4430=) c.9990C= (p.Ala3330=) c.13701C= (p.Ala4567=) c.13224C= (p.Ala4408=) c.13248C= (p.Ala4416=) c.13302C= (p.Ala4434=) c.13194C= (p.Ala4398=) c.13371C= (p.Ala4457=) c.13359C= (p.Ala4453=) c.13716C= (p.Ala4572=) c.13317C= (p.Ala4439=) c.13305C= (p.Ala4435=) c.13263C= (p.Ala4421=) c.13239C= (p.Ala4413=) c.13209C= (p.Ala4403=) c.13386C= (p.Ala4462=) c.13236C= (p.Ala4412=) c.9936C= (p.Ala3312=) | |
| 8 | g.143916531G>T | CA463525671 | PLEC | c.13422C>A (p.Ala4474=) c.13341C>A (p.Ala4447=) c.13008C>A (p.Ala4336=) c.13221C>A (p.Ala4407=) c.13290C>A (p.Ala4430=) c.9990C>A (p.Ala3330=) c.13701C>A (p.Ala4567=) c.13224C>A (p.Ala4408=) c.13248C>A (p.Ala4416=) c.13302C>A (p.Ala4434=) c.13194C>A (p.Ala4398=) c.13371C>A (p.Ala4457=) c.13359C>A (p.Ala4453=) c.13716C>A (p.Ala4572=) c.13317C>A (p.Ala4439=) c.13305C>A (p.Ala4435=) c.13263C>A (p.Ala4421=) c.13239C>A (p.Ala4413=) c.13209C>A (p.Ala4403=) c.13386C>A (p.Ala4462=) c.13236C>A (p.Ala4412=) c.9936C>A (p.Ala3312=) | |
| 8 | g.143916532G>A | CA372475718 | PLEC | c.13421C>T (p.Ala4474Val) c.13340C>T (p.Ala4447Val) c.13007C>T (p.Ala4336Val) c.13220C>T (p.Ala4407Val) c.13289C>T (p.Ala4430Val) c.9989C>T (p.Ala3330Val) c.13700C>T (p.Ala4567Val) c.13223C>T (p.Ala4408Val) c.13247C>T (p.Ala4416Val) c.13301C>T (p.Ala4434Val) c.13193C>T (p.Ala4398Val) c.13370C>T (p.Ala4457Val) c.13358C>T (p.Ala4453Val) c.13715C>T (p.Ala4572Val) c.13316C>T (p.Ala4439Val) c.13304C>T (p.Ala4435Val) c.13262C>T (p.Ala4421Val) c.13238C>T (p.Ala4413Val) c.13208C>T (p.Ala4403Val) c.13385C>T (p.Ala4462Val) c.13235C>T (p.Ala4412Val) c.9935C>T (p.Ala3312Val) | gnomAD v4 |
| 8 | g.143916532G>C | CA372475719 | PLEC | c.13421C>G (p.Ala4474Gly) c.13340C>G (p.Ala4447Gly) c.13007C>G (p.Ala4336Gly) c.13220C>G (p.Ala4407Gly) c.13289C>G (p.Ala4430Gly) c.9989C>G (p.Ala3330Gly) c.13700C>G (p.Ala4567Gly) c.13223C>G (p.Ala4408Gly) c.13247C>G (p.Ala4416Gly) c.13301C>G (p.Ala4434Gly) c.13193C>G (p.Ala4398Gly) c.13370C>G (p.Ala4457Gly) c.13358C>G (p.Ala4453Gly) c.13715C>G (p.Ala4572Gly) c.13316C>G (p.Ala4439Gly) c.13304C>G (p.Ala4435Gly) c.13262C>G (p.Ala4421Gly) c.13238C>G (p.Ala4413Gly) c.13208C>G (p.Ala4403Gly) c.13385C>G (p.Ala4462Gly) c.13235C>G (p.Ala4412Gly) c.9935C>G (p.Ala3312Gly) | dbSNP gnomAD v4 |
| 8 | g.143916532G= | CA1826037329 | PLEC | c.13421C= (p.Ala4474=) c.13340C= (p.Ala4447=) c.13007C= (p.Ala4336=) c.13220C= (p.Ala4407=) c.13289C= (p.Ala4430=) c.9989C= (p.Ala3330=) c.13700C= (p.Ala4567=) c.13223C= (p.Ala4408=) c.13247C= (p.Ala4416=) c.13301C= (p.Ala4434=) c.13193C= (p.Ala4398=) c.13370C= (p.Ala4457=) c.13358C= (p.Ala4453=) c.13715C= (p.Ala4572=) c.13316C= (p.Ala4439=) c.13304C= (p.Ala4435=) c.13262C= (p.Ala4421=) c.13238C= (p.Ala4413=) c.13208C= (p.Ala4403=) c.13385C= (p.Ala4462=) c.13235C= (p.Ala4412=) c.9935C= (p.Ala3312=) | |
| 8 | g.143916532G>T | CA372475720 | PLEC | c.13421C>A (p.Ala4474Asp) c.13340C>A (p.Ala4447Asp) c.13007C>A (p.Ala4336Asp) c.13220C>A (p.Ala4407Asp) c.13289C>A (p.Ala4430Asp) c.9989C>A (p.Ala3330Asp) c.13700C>A (p.Ala4567Asp) c.13223C>A (p.Ala4408Asp) c.13247C>A (p.Ala4416Asp) c.13301C>A (p.Ala4434Asp) c.13193C>A (p.Ala4398Asp) c.13370C>A (p.Ala4457Asp) c.13358C>A (p.Ala4453Asp) c.13715C>A (p.Ala4572Asp) c.13316C>A (p.Ala4439Asp) c.13304C>A (p.Ala4435Asp) c.13262C>A (p.Ala4421Asp) c.13238C>A (p.Ala4413Asp) c.13208C>A (p.Ala4403Asp) c.13385C>A (p.Ala4462Asp) c.13235C>A (p.Ala4412Asp) c.9935C>A (p.Ala3312Asp) | gnomAD v4 |
| 8 | g.143916533C>A | CA372475721 | PLEC | c.13420G>T (p.Ala4474Ser) c.13339G>T (p.Ala4447Ser) c.13006G>T (p.Ala4336Ser) c.13219G>T (p.Ala4407Ser) c.13288G>T (p.Ala4430Ser) c.9988G>T (p.Ala3330Ser) c.13699G>T (p.Ala4567Ser) c.13222G>T (p.Ala4408Ser) c.13246G>T (p.Ala4416Ser) c.13300G>T (p.Ala4434Ser) c.13192G>T (p.Ala4398Ser) c.13369G>T (p.Ala4457Ser) c.13357G>T (p.Ala4453Ser) c.13714G>T (p.Ala4572Ser) c.13315G>T (p.Ala4439Ser) c.13303G>T (p.Ala4435Ser) c.13261G>T (p.Ala4421Ser) c.13237G>T (p.Ala4413Ser) c.13207G>T (p.Ala4403Ser) c.13384G>T (p.Ala4462Ser) c.13234G>T (p.Ala4412Ser) c.9934G>T (p.Ala3312Ser) | |
| 8 | g.143916533C= | CA1826037333 | PLEC | c.13420G= (p.Ala4474=) c.13339G= (p.Ala4447=) c.13006G= (p.Ala4336=) c.13219G= (p.Ala4407=) c.13288G= (p.Ala4430=) c.9988G= (p.Ala3330=) c.13699G= (p.Ala4567=) c.13222G= (p.Ala4408=) c.13246G= (p.Ala4416=) c.13300G= (p.Ala4434=) c.13192G= (p.Ala4398=) c.13369G= (p.Ala4457=) c.13357G= (p.Ala4453=) c.13714G= (p.Ala4572=) c.13315G= (p.Ala4439=) c.13303G= (p.Ala4435=) c.13261G= (p.Ala4421=) c.13237G= (p.Ala4413=) c.13207G= (p.Ala4403=) c.13384G= (p.Ala4462=) c.13234G= (p.Ala4412=) c.9934G= (p.Ala3312=) | |
| 8 | g.143916533C>G | CA372475722 | PLEC | c.13420G>C (p.Ala4474Pro) c.13339G>C (p.Ala4447Pro) c.13006G>C (p.Ala4336Pro) c.13219G>C (p.Ala4407Pro) c.13288G>C (p.Ala4430Pro) c.9988G>C (p.Ala3330Pro) c.13699G>C (p.Ala4567Pro) c.13222G>C (p.Ala4408Pro) c.13246G>C (p.Ala4416Pro) c.13300G>C (p.Ala4434Pro) c.13192G>C (p.Ala4398Pro) c.13369G>C (p.Ala4457Pro) c.13357G>C (p.Ala4453Pro) c.13714G>C (p.Ala4572Pro) c.13315G>C (p.Ala4439Pro) c.13303G>C (p.Ala4435Pro) c.13261G>C (p.Ala4421Pro) c.13237G>C (p.Ala4413Pro) c.13207G>C (p.Ala4403Pro) c.13384G>C (p.Ala4462Pro) c.13234G>C (p.Ala4412Pro) c.9934G>C (p.Ala3312Pro) | |
| 8 | g.143916533C>T | CA4923849 | PLEC | c.13420G>A (p.Ala4474Thr) c.13339G>A (p.Ala4447Thr) c.13006G>A (p.Ala4336Thr) c.13219G>A (p.Ala4407Thr) c.13288G>A (p.Ala4430Thr) c.9988G>A (p.Ala3330Thr) c.13699G>A (p.Ala4567Thr) c.13222G>A (p.Ala4408Thr) c.13246G>A (p.Ala4416Thr) c.13300G>A (p.Ala4434Thr) c.13192G>A (p.Ala4398Thr) c.13369G>A (p.Ala4457Thr) c.13357G>A (p.Ala4453Thr) c.13714G>A (p.Ala4572Thr) c.13315G>A (p.Ala4439Thr) c.13303G>A (p.Ala4435Thr) c.13261G>A (p.Ala4421Thr) c.13237G>A (p.Ala4413Thr) c.13207G>A (p.Ala4403Thr) c.13384G>A (p.Ala4462Thr) c.13234G>A (p.Ala4412Thr) c.9934G>A (p.Ala3312Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143916534G>A | CA463525672 | PLEC | c.13419C>T (p.Gly4473=) c.13338C>T (p.Gly4446=) c.13005C>T (p.Gly4335=) c.13218C>T (p.Gly4406=) c.13287C>T (p.Gly4429=) c.9987C>T (p.Gly3329=) c.13698C>T (p.Gly4566=) c.13221C>T (p.Gly4407=) c.13245C>T (p.Gly4415=) c.13299C>T (p.Gly4433=) c.13191C>T (p.Gly4397=) c.13368C>T (p.Gly4456=) c.13356C>T (p.Gly4452=) c.13713C>T (p.Gly4571=) c.13314C>T (p.Gly4438=) c.13302C>T (p.Gly4434=) c.13260C>T (p.Gly4420=) c.13236C>T (p.Gly4412=) c.13206C>T (p.Gly4402=) c.13383C>T (p.Gly4461=) c.13233C>T (p.Gly4411=) c.9933C>T (p.Gly3311=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916534G>C | CA463525673 | PLEC | c.13419C>G (p.Gly4473=) c.13338C>G (p.Gly4446=) c.13005C>G (p.Gly4335=) c.13218C>G (p.Gly4406=) c.13287C>G (p.Gly4429=) c.9987C>G (p.Gly3329=) c.13698C>G (p.Gly4566=) c.13221C>G (p.Gly4407=) c.13245C>G (p.Gly4415=) c.13299C>G (p.Gly4433=) c.13191C>G (p.Gly4397=) c.13368C>G (p.Gly4456=) c.13356C>G (p.Gly4452=) c.13713C>G (p.Gly4571=) c.13314C>G (p.Gly4438=) c.13302C>G (p.Gly4434=) c.13260C>G (p.Gly4420=) c.13236C>G (p.Gly4412=) c.13206C>G (p.Gly4402=) c.13383C>G (p.Gly4461=) c.13233C>G (p.Gly4411=) c.9933C>G (p.Gly3311=) | |
| 8 | g.143916534G= | CA1826037338 | PLEC | c.13419C= (p.Gly4473=) c.13338C= (p.Gly4446=) c.13005C= (p.Gly4335=) c.13218C= (p.Gly4406=) c.13287C= (p.Gly4429=) c.9987C= (p.Gly3329=) c.13698C= (p.Gly4566=) c.13221C= (p.Gly4407=) c.13245C= (p.Gly4415=) c.13299C= (p.Gly4433=) c.13191C= (p.Gly4397=) c.13368C= (p.Gly4456=) c.13356C= (p.Gly4452=) c.13713C= (p.Gly4571=) c.13314C= (p.Gly4438=) c.13302C= (p.Gly4434=) c.13260C= (p.Gly4420=) c.13236C= (p.Gly4412=) c.13206C= (p.Gly4402=) c.13383C= (p.Gly4461=) c.13233C= (p.Gly4411=) c.9933C= (p.Gly3311=) | |
| 8 | g.143916534G>T | CA244424 | PLEC | c.13419C>A (p.Gly4473=) c.13338C>A (p.Gly4446=) c.13005C>A (p.Gly4335=) c.13218C>A (p.Gly4406=) c.13287C>A (p.Gly4429=) c.9987C>A (p.Gly3329=) c.13698C>A (p.Gly4566=) c.13221C>A (p.Gly4407=) c.13245C>A (p.Gly4415=) c.13299C>A (p.Gly4433=) c.13191C>A (p.Gly4397=) c.13368C>A (p.Gly4456=) c.13356C>A (p.Gly4452=) c.13713C>A (p.Gly4571=) c.13314C>A (p.Gly4438=) c.13302C>A (p.Gly4434=) c.13260C>A (p.Gly4420=) c.13236C>A (p.Gly4412=) c.13206C>A (p.Gly4402=) c.13383C>A (p.Gly4461=) c.13233C>A (p.Gly4411=) c.9933C>A (p.Gly3311=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916535C>A | CA372475723 | PLEC | c.13418G>T (p.Gly4473Val) c.13337G>T (p.Gly4446Val) c.13004G>T (p.Gly4335Val) c.13217G>T (p.Gly4406Val) c.13286G>T (p.Gly4429Val) c.9986G>T (p.Gly3329Val) c.13697G>T (p.Gly4566Val) c.13220G>T (p.Gly4407Val) c.13244G>T (p.Gly4415Val) c.13298G>T (p.Gly4433Val) c.13190G>T (p.Gly4397Val) c.13367G>T (p.Gly4456Val) c.13355G>T (p.Gly4452Val) c.13712G>T (p.Gly4571Val) c.13313G>T (p.Gly4438Val) c.13301G>T (p.Gly4434Val) c.13259G>T (p.Gly4420Val) c.13235G>T (p.Gly4412Val) c.13205G>T (p.Gly4402Val) c.13382G>T (p.Gly4461Val) c.13232G>T (p.Gly4411Val) c.9932G>T (p.Gly3311Val) | gnomAD v4 |
| 8 | g.143916535C= | CA1826037340 | PLEC | c.13418G= (p.Gly4473=) c.13337G= (p.Gly4446=) c.13004G= (p.Gly4335=) c.13217G= (p.Gly4406=) c.13286G= (p.Gly4429=) c.9986G= (p.Gly3329=) c.13697G= (p.Gly4566=) c.13220G= (p.Gly4407=) c.13244G= (p.Gly4415=) c.13298G= (p.Gly4433=) c.13190G= (p.Gly4397=) c.13367G= (p.Gly4456=) c.13355G= (p.Gly4452=) c.13712G= (p.Gly4571=) c.13313G= (p.Gly4438=) c.13301G= (p.Gly4434=) c.13259G= (p.Gly4420=) c.13235G= (p.Gly4412=) c.13205G= (p.Gly4402=) c.13382G= (p.Gly4461=) c.13232G= (p.Gly4411=) c.9932G= (p.Gly3311=) | |
| 8 | g.143916535C>G | CA372475725 | PLEC | c.13418G>C (p.Gly4473Ala) c.13337G>C (p.Gly4446Ala) c.13004G>C (p.Gly4335Ala) c.13217G>C (p.Gly4406Ala) c.13286G>C (p.Gly4429Ala) c.9986G>C (p.Gly3329Ala) c.13697G>C (p.Gly4566Ala) c.13220G>C (p.Gly4407Ala) c.13244G>C (p.Gly4415Ala) c.13298G>C (p.Gly4433Ala) c.13190G>C (p.Gly4397Ala) c.13367G>C (p.Gly4456Ala) c.13355G>C (p.Gly4452Ala) c.13712G>C (p.Gly4571Ala) c.13313G>C (p.Gly4438Ala) c.13301G>C (p.Gly4434Ala) c.13259G>C (p.Gly4420Ala) c.13235G>C (p.Gly4412Ala) c.13205G>C (p.Gly4402Ala) c.13382G>C (p.Gly4461Ala) c.13232G>C (p.Gly4411Ala) c.9932G>C (p.Gly3311Ala) | dbSNP |
| 8 | g.143916535C>T | CA372475724 | PLEC | c.13418G>A (p.Gly4473Asp) c.13337G>A (p.Gly4446Asp) c.13004G>A (p.Gly4335Asp) c.13217G>A (p.Gly4406Asp) c.13286G>A (p.Gly4429Asp) c.9986G>A (p.Gly3329Asp) c.13697G>A (p.Gly4566Asp) c.13220G>A (p.Gly4407Asp) c.13244G>A (p.Gly4415Asp) c.13298G>A (p.Gly4433Asp) c.13190G>A (p.Gly4397Asp) c.13367G>A (p.Gly4456Asp) c.13355G>A (p.Gly4452Asp) c.13712G>A (p.Gly4571Asp) c.13313G>A (p.Gly4438Asp) c.13301G>A (p.Gly4434Asp) c.13259G>A (p.Gly4420Asp) c.13235G>A (p.Gly4412Asp) c.13205G>A (p.Gly4402Asp) c.13382G>A (p.Gly4461Asp) c.13232G>A (p.Gly4411Asp) c.9932G>A (p.Gly3311Asp) | |
| 8 | g.143916536C>A | CA372475726 | PLEC | c.13417G>T (p.Gly4473Cys) c.13336G>T (p.Gly4446Cys) c.13003G>T (p.Gly4335Cys) c.13216G>T (p.Gly4406Cys) c.13285G>T (p.Gly4429Cys) c.9985G>T (p.Gly3329Cys) c.13696G>T (p.Gly4566Cys) c.13219G>T (p.Gly4407Cys) c.13243G>T (p.Gly4415Cys) c.13297G>T (p.Gly4433Cys) c.13189G>T (p.Gly4397Cys) c.13366G>T (p.Gly4456Cys) c.13354G>T (p.Gly4452Cys) c.13711G>T (p.Gly4571Cys) c.13312G>T (p.Gly4438Cys) c.13300G>T (p.Gly4434Cys) c.13258G>T (p.Gly4420Cys) c.13234G>T (p.Gly4412Cys) c.13204G>T (p.Gly4402Cys) c.13381G>T (p.Gly4461Cys) c.13231G>T (p.Gly4411Cys) c.9931G>T (p.Gly3311Cys) | gnomAD v4 |
| 8 | g.143916536C= | CA1826037342 | PLEC | c.13417G= (p.Gly4473=) c.13336G= (p.Gly4446=) c.13003G= (p.Gly4335=) c.13216G= (p.Gly4406=) c.13285G= (p.Gly4429=) c.9985G= (p.Gly3329=) c.13696G= (p.Gly4566=) c.13219G= (p.Gly4407=) c.13243G= (p.Gly4415=) c.13297G= (p.Gly4433=) c.13189G= (p.Gly4397=) c.13366G= (p.Gly4456=) c.13354G= (p.Gly4452=) c.13711G= (p.Gly4571=) c.13312G= (p.Gly4438=) c.13300G= (p.Gly4434=) c.13258G= (p.Gly4420=) c.13234G= (p.Gly4412=) c.13204G= (p.Gly4402=) c.13381G= (p.Gly4461=) c.13231G= (p.Gly4411=) c.9931G= (p.Gly3311=) | |
| 8 | g.143916536C>G | CA372475727 | PLEC | c.13417G>C (p.Gly4473Arg) c.13336G>C (p.Gly4446Arg) c.13003G>C (p.Gly4335Arg) c.13216G>C (p.Gly4406Arg) c.13285G>C (p.Gly4429Arg) c.9985G>C (p.Gly3329Arg) c.13696G>C (p.Gly4566Arg) c.13219G>C (p.Gly4407Arg) c.13243G>C (p.Gly4415Arg) c.13297G>C (p.Gly4433Arg) c.13189G>C (p.Gly4397Arg) c.13366G>C (p.Gly4456Arg) c.13354G>C (p.Gly4452Arg) c.13711G>C (p.Gly4571Arg) c.13312G>C (p.Gly4438Arg) c.13300G>C (p.Gly4434Arg) c.13258G>C (p.Gly4420Arg) c.13234G>C (p.Gly4412Arg) c.13204G>C (p.Gly4402Arg) c.13381G>C (p.Gly4461Arg) c.13231G>C (p.Gly4411Arg) c.9931G>C (p.Gly3311Arg) | |
| 8 | g.143916536C>T | CA4923850 | PLEC | c.13417G>A (p.Gly4473Ser) c.13336G>A (p.Gly4446Ser) c.13003G>A (p.Gly4335Ser) c.13216G>A (p.Gly4406Ser) c.13285G>A (p.Gly4429Ser) c.9985G>A (p.Gly3329Ser) c.13696G>A (p.Gly4566Ser) c.13219G>A (p.Gly4407Ser) c.13243G>A (p.Gly4415Ser) c.13297G>A (p.Gly4433Ser) c.13189G>A (p.Gly4397Ser) c.13366G>A (p.Gly4456Ser) c.13354G>A (p.Gly4452Ser) c.13711G>A (p.Gly4571Ser) c.13312G>A (p.Gly4438Ser) c.13300G>A (p.Gly4434Ser) c.13258G>A (p.Gly4420Ser) c.13234G>A (p.Gly4412Ser) c.13204G>A (p.Gly4402Ser) c.13381G>A (p.Gly4461Ser) c.13231G>A (p.Gly4411Ser) c.9931G>A (p.Gly3311Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143916537C>A | CA463525674 | PLEC | c.13416G>T (p.Val4472=) c.13335G>T (p.Val4445=) c.13002G>T (p.Val4334=) c.13215G>T (p.Val4405=) c.13284G>T (p.Val4428=) c.9984G>T (p.Val3328=) c.13695G>T (p.Val4565=) c.13218G>T (p.Val4406=) c.13242G>T (p.Val4414=) c.13296G>T (p.Val4432=) c.13188G>T (p.Val4396=) c.13365G>T (p.Val4455=) c.13353G>T (p.Val4451=) c.13710G>T (p.Val4570=) c.13311G>T (p.Val4437=) c.13299G>T (p.Val4433=) c.13257G>T (p.Val4419=) c.13233G>T (p.Val4411=) c.13203G>T (p.Val4401=) c.13380G>T (p.Val4460=) c.13230G>T (p.Val4410=) c.9930G>T (p.Val3310=) | |
| 8 | g.143916537C= | CA1826037344 | PLEC | c.13416G= (p.Val4472=) c.13335G= (p.Val4445=) c.13002G= (p.Val4334=) c.13215G= (p.Val4405=) c.13284G= (p.Val4428=) c.9984G= (p.Val3328=) c.13695G= (p.Val4565=) c.13218G= (p.Val4406=) c.13242G= (p.Val4414=) c.13296G= (p.Val4432=) c.13188G= (p.Val4396=) c.13365G= (p.Val4455=) c.13353G= (p.Val4451=) c.13710G= (p.Val4570=) c.13311G= (p.Val4437=) c.13299G= (p.Val4433=) c.13257G= (p.Val4419=) c.13233G= (p.Val4411=) c.13203G= (p.Val4401=) c.13380G= (p.Val4460=) c.13230G= (p.Val4410=) c.9930G= (p.Val3310=) | |
| 8 | g.143916537C>G | CA463525675 | PLEC | c.13416G>C (p.Val4472=) c.13335G>C (p.Val4445=) c.13002G>C (p.Val4334=) c.13215G>C (p.Val4405=) c.13284G>C (p.Val4428=) c.9984G>C (p.Val3328=) c.13695G>C (p.Val4565=) c.13218G>C (p.Val4406=) c.13242G>C (p.Val4414=) c.13296G>C (p.Val4432=) c.13188G>C (p.Val4396=) c.13365G>C (p.Val4455=) c.13353G>C (p.Val4451=) c.13710G>C (p.Val4570=) c.13311G>C (p.Val4437=) c.13299G>C (p.Val4433=) c.13257G>C (p.Val4419=) c.13233G>C (p.Val4411=) c.13203G>C (p.Val4401=) c.13380G>C (p.Val4460=) c.13230G>C (p.Val4410=) c.9930G>C (p.Val3310=) |