| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143916558G>A | CA4923860 | PLEC | c.13395C>T (p.Thr4465=) c.13314C>T (p.Thr4438=) c.12981C>T (p.Thr4327=) c.13194C>T (p.Thr4398=) c.13263C>T (p.Thr4421=) c.9963C>T (p.Thr3321=) c.13674C>T (p.Thr4558=) c.13197C>T (p.Thr4399=) c.13221C>T (p.Thr4407=) c.13275C>T (p.Thr4425=) c.13167C>T (p.Thr4389=) c.13344C>T (p.Thr4448=) c.13332C>T (p.Thr4444=) c.13689C>T (p.Thr4563=) c.13290C>T (p.Thr4430=) c.13278C>T (p.Thr4426=) c.13236C>T (p.Thr4412=) c.13212C>T (p.Thr4404=) c.13182C>T (p.Thr4394=) c.13359C>T (p.Thr4453=) c.13209C>T (p.Thr4403=) c.9909C>T (p.Thr3303=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916558G>C | CA463525687 | PLEC | c.13395C>G (p.Thr4465=) c.13314C>G (p.Thr4438=) c.12981C>G (p.Thr4327=) c.13194C>G (p.Thr4398=) c.13263C>G (p.Thr4421=) c.9963C>G (p.Thr3321=) c.13674C>G (p.Thr4558=) c.13197C>G (p.Thr4399=) c.13221C>G (p.Thr4407=) c.13275C>G (p.Thr4425=) c.13167C>G (p.Thr4389=) c.13344C>G (p.Thr4448=) c.13332C>G (p.Thr4444=) c.13689C>G (p.Thr4563=) c.13290C>G (p.Thr4430=) c.13278C>G (p.Thr4426=) c.13236C>G (p.Thr4412=) c.13212C>G (p.Thr4404=) c.13182C>G (p.Thr4394=) c.13359C>G (p.Thr4453=) c.13209C>G (p.Thr4403=) c.9909C>G (p.Thr3303=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.143916558G= | CA1826037382 | PLEC | c.13395C= (p.Thr4465=) c.13314C= (p.Thr4438=) c.12981C= (p.Thr4327=) c.13194C= (p.Thr4398=) c.13263C= (p.Thr4421=) c.9963C= (p.Thr3321=) c.13674C= (p.Thr4558=) c.13197C= (p.Thr4399=) c.13221C= (p.Thr4407=) c.13275C= (p.Thr4425=) c.13167C= (p.Thr4389=) c.13344C= (p.Thr4448=) c.13332C= (p.Thr4444=) c.13689C= (p.Thr4563=) c.13290C= (p.Thr4430=) c.13278C= (p.Thr4426=) c.13236C= (p.Thr4412=) c.13212C= (p.Thr4404=) c.13182C= (p.Thr4394=) c.13359C= (p.Thr4453=) c.13209C= (p.Thr4403=) c.9909C= (p.Thr3303=) | |
| 8 | g.143916558G>T | CA4923861 | PLEC | c.13395C>A (p.Thr4465=) c.13314C>A (p.Thr4438=) c.12981C>A (p.Thr4327=) c.13194C>A (p.Thr4398=) c.13263C>A (p.Thr4421=) c.9963C>A (p.Thr3321=) c.13674C>A (p.Thr4558=) c.13197C>A (p.Thr4399=) c.13221C>A (p.Thr4407=) c.13275C>A (p.Thr4425=) c.13167C>A (p.Thr4389=) c.13344C>A (p.Thr4448=) c.13332C>A (p.Thr4444=) c.13689C>A (p.Thr4563=) c.13290C>A (p.Thr4430=) c.13278C>A (p.Thr4426=) c.13236C>A (p.Thr4412=) c.13212C>A (p.Thr4404=) c.13182C>A (p.Thr4394=) c.13359C>A (p.Thr4453=) c.13209C>A (p.Thr4403=) c.9909C>A (p.Thr3303=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916559G>A | CA372475787 | PLEC | c.13394C>T (p.Thr4465Ile) c.13313C>T (p.Thr4438Ile) c.12980C>T (p.Thr4327Ile) c.13193C>T (p.Thr4398Ile) c.13262C>T (p.Thr4421Ile) c.9962C>T (p.Thr3321Ile) c.13673C>T (p.Thr4558Ile) c.13196C>T (p.Thr4399Ile) c.13220C>T (p.Thr4407Ile) c.13274C>T (p.Thr4425Ile) c.13166C>T (p.Thr4389Ile) c.13343C>T (p.Thr4448Ile) c.13331C>T (p.Thr4444Ile) c.13688C>T (p.Thr4563Ile) c.13289C>T (p.Thr4430Ile) c.13277C>T (p.Thr4426Ile) c.13235C>T (p.Thr4412Ile) c.13211C>T (p.Thr4404Ile) c.13181C>T (p.Thr4394Ile) c.13358C>T (p.Thr4453Ile) c.13208C>T (p.Thr4403Ile) c.9908C>T (p.Thr3303Ile) | gnomAD v4 |
| 8 | g.143916559G>C | CA372475789 | PLEC | c.13394C>G (p.Thr4465Ser) c.13313C>G (p.Thr4438Ser) c.12980C>G (p.Thr4327Ser) c.13193C>G (p.Thr4398Ser) c.13262C>G (p.Thr4421Ser) c.9962C>G (p.Thr3321Ser) c.13673C>G (p.Thr4558Ser) c.13196C>G (p.Thr4399Ser) c.13220C>G (p.Thr4407Ser) c.13274C>G (p.Thr4425Ser) c.13166C>G (p.Thr4389Ser) c.13343C>G (p.Thr4448Ser) c.13331C>G (p.Thr4444Ser) c.13688C>G (p.Thr4563Ser) c.13289C>G (p.Thr4430Ser) c.13277C>G (p.Thr4426Ser) c.13235C>G (p.Thr4412Ser) c.13211C>G (p.Thr4404Ser) c.13181C>G (p.Thr4394Ser) c.13358C>G (p.Thr4453Ser) c.13208C>G (p.Thr4403Ser) c.9908C>G (p.Thr3303Ser) | |
| 8 | g.143916559G>T | CA372475790 | PLEC | c.13394C>A (p.Thr4465Asn) c.13313C>A (p.Thr4438Asn) c.12980C>A (p.Thr4327Asn) c.13193C>A (p.Thr4398Asn) c.13262C>A (p.Thr4421Asn) c.9962C>A (p.Thr3321Asn) c.13673C>A (p.Thr4558Asn) c.13196C>A (p.Thr4399Asn) c.13220C>A (p.Thr4407Asn) c.13274C>A (p.Thr4425Asn) c.13166C>A (p.Thr4389Asn) c.13343C>A (p.Thr4448Asn) c.13331C>A (p.Thr4444Asn) c.13688C>A (p.Thr4563Asn) c.13289C>A (p.Thr4430Asn) c.13277C>A (p.Thr4426Asn) c.13235C>A (p.Thr4412Asn) c.13211C>A (p.Thr4404Asn) c.13181C>A (p.Thr4394Asn) c.13358C>A (p.Thr4453Asn) c.13208C>A (p.Thr4403Asn) c.9908C>A (p.Thr3303Asn) | |
| 8 | g.143916560T>A | CA372475791 | PLEC | c.13393A>T (p.Thr4465Ser) c.13312A>T (p.Thr4438Ser) c.12979A>T (p.Thr4327Ser) c.13192A>T (p.Thr4398Ser) c.13261A>T (p.Thr4421Ser) c.9961A>T (p.Thr3321Ser) c.13672A>T (p.Thr4558Ser) c.13195A>T (p.Thr4399Ser) c.13219A>T (p.Thr4407Ser) c.13273A>T (p.Thr4425Ser) c.13165A>T (p.Thr4389Ser) c.13342A>T (p.Thr4448Ser) c.13330A>T (p.Thr4444Ser) c.13687A>T (p.Thr4563Ser) c.13288A>T (p.Thr4430Ser) c.13276A>T (p.Thr4426Ser) c.13234A>T (p.Thr4412Ser) c.13210A>T (p.Thr4404Ser) c.13180A>T (p.Thr4394Ser) c.13357A>T (p.Thr4453Ser) c.13207A>T (p.Thr4403Ser) c.9907A>T (p.Thr3303Ser) | |
| 8 | g.143916560T>C | CA372475793 | PLEC | c.13393A>G (p.Thr4465Ala) c.13312A>G (p.Thr4438Ala) c.12979A>G (p.Thr4327Ala) c.13192A>G (p.Thr4398Ala) c.13261A>G (p.Thr4421Ala) c.9961A>G (p.Thr3321Ala) c.13672A>G (p.Thr4558Ala) c.13195A>G (p.Thr4399Ala) c.13219A>G (p.Thr4407Ala) c.13273A>G (p.Thr4425Ala) c.13165A>G (p.Thr4389Ala) c.13342A>G (p.Thr4448Ala) c.13330A>G (p.Thr4444Ala) c.13687A>G (p.Thr4563Ala) c.13288A>G (p.Thr4430Ala) c.13276A>G (p.Thr4426Ala) c.13234A>G (p.Thr4412Ala) c.13210A>G (p.Thr4404Ala) c.13180A>G (p.Thr4394Ala) c.13357A>G (p.Thr4453Ala) c.13207A>G (p.Thr4403Ala) c.9907A>G (p.Thr3303Ala) | |
| 8 | g.143916560T>G | CA4923862 | PLEC | c.13393A>C (p.Thr4465Pro) c.13312A>C (p.Thr4438Pro) c.12979A>C (p.Thr4327Pro) c.13192A>C (p.Thr4398Pro) c.13261A>C (p.Thr4421Pro) c.9961A>C (p.Thr3321Pro) c.13672A>C (p.Thr4558Pro) c.13195A>C (p.Thr4399Pro) c.13219A>C (p.Thr4407Pro) c.13273A>C (p.Thr4425Pro) c.13165A>C (p.Thr4389Pro) c.13342A>C (p.Thr4448Pro) c.13330A>C (p.Thr4444Pro) c.13687A>C (p.Thr4563Pro) c.13288A>C (p.Thr4430Pro) c.13276A>C (p.Thr4426Pro) c.13234A>C (p.Thr4412Pro) c.13210A>C (p.Thr4404Pro) c.13180A>C (p.Thr4394Pro) c.13357A>C (p.Thr4453Pro) c.13207A>C (p.Thr4403Pro) c.9907A>C (p.Thr3303Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143916560T= | CA1826037384 | PLEC | c.13393A= (p.Thr4465=) c.13312A= (p.Thr4438=) c.12979A= (p.Thr4327=) c.13192A= (p.Thr4398=) c.13261A= (p.Thr4421=) c.9961A= (p.Thr3321=) c.13672A= (p.Thr4558=) c.13195A= (p.Thr4399=) c.13219A= (p.Thr4407=) c.13273A= (p.Thr4425=) c.13165A= (p.Thr4389=) c.13342A= (p.Thr4448=) c.13330A= (p.Thr4444=) c.13687A= (p.Thr4563=) c.13288A= (p.Thr4430=) c.13276A= (p.Thr4426=) c.13234A= (p.Thr4412=) c.13210A= (p.Thr4404=) c.13180A= (p.Thr4394=) c.13357A= (p.Thr4453=) c.13207A= (p.Thr4403=) c.9907A= (p.Thr3303=) | |
| 8 | g.143916561G>A | CA463525688 | PLEC | c.13392C>T (p.Arg4464=) c.13311C>T (p.Arg4437=) c.12978C>T (p.Arg4326=) c.13191C>T (p.Arg4397=) c.13260C>T (p.Arg4420=) c.9960C>T (p.Arg3320=) c.13671C>T (p.Arg4557=) c.13194C>T (p.Arg4398=) c.13218C>T (p.Arg4406=) c.13272C>T (p.Arg4424=) c.13164C>T (p.Arg4388=) c.13341C>T (p.Arg4447=) c.13329C>T (p.Arg4443=) c.13686C>T (p.Arg4562=) c.13287C>T (p.Arg4429=) c.13275C>T (p.Arg4425=) c.13233C>T (p.Arg4411=) c.13209C>T (p.Arg4403=) c.13179C>T (p.Arg4393=) c.13356C>T (p.Arg4452=) c.13206C>T (p.Arg4402=) c.9906C>T (p.Arg3302=) | dbSNP |
| 8 | g.143916561G>C | CA463525689 | PLEC | c.13392C>G (p.Arg4464=) c.13311C>G (p.Arg4437=) c.12978C>G (p.Arg4326=) c.13191C>G (p.Arg4397=) c.13260C>G (p.Arg4420=) c.9960C>G (p.Arg3320=) c.13671C>G (p.Arg4557=) c.13194C>G (p.Arg4398=) c.13218C>G (p.Arg4406=) c.13272C>G (p.Arg4424=) c.13164C>G (p.Arg4388=) c.13341C>G (p.Arg4447=) c.13329C>G (p.Arg4443=) c.13686C>G (p.Arg4562=) c.13287C>G (p.Arg4429=) c.13275C>G (p.Arg4425=) c.13233C>G (p.Arg4411=) c.13209C>G (p.Arg4403=) c.13179C>G (p.Arg4393=) c.13356C>G (p.Arg4452=) c.13206C>G (p.Arg4402=) c.9906C>G (p.Arg3302=) | |
| 8 | g.143916561G= | CA1826037386 | PLEC | c.13392C= (p.Arg4464=) c.13311C= (p.Arg4437=) c.12978C= (p.Arg4326=) c.13191C= (p.Arg4397=) c.13260C= (p.Arg4420=) c.9960C= (p.Arg3320=) c.13671C= (p.Arg4557=) c.13194C= (p.Arg4398=) c.13218C= (p.Arg4406=) c.13272C= (p.Arg4424=) c.13164C= (p.Arg4388=) c.13341C= (p.Arg4447=) c.13329C= (p.Arg4443=) c.13686C= (p.Arg4562=) c.13287C= (p.Arg4429=) c.13275C= (p.Arg4425=) c.13233C= (p.Arg4411=) c.13209C= (p.Arg4403=) c.13179C= (p.Arg4393=) c.13356C= (p.Arg4452=) c.13206C= (p.Arg4402=) c.9906C= (p.Arg3302=) | |
| 8 | g.143916561G>T | CA463525690 | PLEC | c.13392C>A (p.Arg4464=) c.13311C>A (p.Arg4437=) c.12978C>A (p.Arg4326=) c.13191C>A (p.Arg4397=) c.13260C>A (p.Arg4420=) c.9960C>A (p.Arg3320=) c.13671C>A (p.Arg4557=) c.13194C>A (p.Arg4398=) c.13218C>A (p.Arg4406=) c.13272C>A (p.Arg4424=) c.13164C>A (p.Arg4388=) c.13341C>A (p.Arg4447=) c.13329C>A (p.Arg4443=) c.13686C>A (p.Arg4562=) c.13287C>A (p.Arg4429=) c.13275C>A (p.Arg4425=) c.13233C>A (p.Arg4411=) c.13209C>A (p.Arg4403=) c.13179C>A (p.Arg4393=) c.13356C>A (p.Arg4452=) c.13206C>A (p.Arg4402=) c.9906C>A (p.Arg3302=) | |
| 8 | g.143916562C>A | CA372475794 | PLEC | c.13391G>T (p.Arg4464Leu) c.13310G>T (p.Arg4437Leu) c.12977G>T (p.Arg4326Leu) c.13190G>T (p.Arg4397Leu) c.13259G>T (p.Arg4420Leu) c.9959G>T (p.Arg3320Leu) c.13670G>T (p.Arg4557Leu) c.13193G>T (p.Arg4398Leu) c.13217G>T (p.Arg4406Leu) c.13271G>T (p.Arg4424Leu) c.13163G>T (p.Arg4388Leu) c.13340G>T (p.Arg4447Leu) c.13328G>T (p.Arg4443Leu) c.13685G>T (p.Arg4562Leu) c.13286G>T (p.Arg4429Leu) c.13274G>T (p.Arg4425Leu) c.13232G>T (p.Arg4411Leu) c.13208G>T (p.Arg4403Leu) c.13178G>T (p.Arg4393Leu) c.13355G>T (p.Arg4452Leu) c.13205G>T (p.Arg4402Leu) c.9905G>T (p.Arg3302Leu) | |
| 8 | g.143916562C= | CA1826037388 | PLEC | c.13391G= (p.Arg4464=) c.13310G= (p.Arg4437=) c.12977G= (p.Arg4326=) c.13190G= (p.Arg4397=) c.13259G= (p.Arg4420=) c.9959G= (p.Arg3320=) c.13670G= (p.Arg4557=) c.13193G= (p.Arg4398=) c.13217G= (p.Arg4406=) c.13271G= (p.Arg4424=) c.13163G= (p.Arg4388=) c.13340G= (p.Arg4447=) c.13328G= (p.Arg4443=) c.13685G= (p.Arg4562=) c.13286G= (p.Arg4429=) c.13274G= (p.Arg4425=) c.13232G= (p.Arg4411=) c.13208G= (p.Arg4403=) c.13178G= (p.Arg4393=) c.13355G= (p.Arg4452=) c.13205G= (p.Arg4402=) c.9905G= (p.Arg3302=) | |
| 8 | g.143916562C>G | CA372475797 | PLEC | c.13391G>C (p.Arg4464Pro) c.13310G>C (p.Arg4437Pro) c.12977G>C (p.Arg4326Pro) c.13190G>C (p.Arg4397Pro) c.13259G>C (p.Arg4420Pro) c.9959G>C (p.Arg3320Pro) c.13670G>C (p.Arg4557Pro) c.13193G>C (p.Arg4398Pro) c.13217G>C (p.Arg4406Pro) c.13271G>C (p.Arg4424Pro) c.13163G>C (p.Arg4388Pro) c.13340G>C (p.Arg4447Pro) c.13328G>C (p.Arg4443Pro) c.13685G>C (p.Arg4562Pro) c.13286G>C (p.Arg4429Pro) c.13274G>C (p.Arg4425Pro) c.13232G>C (p.Arg4411Pro) c.13208G>C (p.Arg4403Pro) c.13178G>C (p.Arg4393Pro) c.13355G>C (p.Arg4452Pro) c.13205G>C (p.Arg4402Pro) c.9905G>C (p.Arg3302Pro) | |
| 8 | g.143916562C>T | CA4923863 | PLEC | c.13391G>A (p.Arg4464His) c.13310G>A (p.Arg4437His) c.12977G>A (p.Arg4326His) c.13190G>A (p.Arg4397His) c.13259G>A (p.Arg4420His) c.9959G>A (p.Arg3320His) c.13670G>A (p.Arg4557His) c.13193G>A (p.Arg4398His) c.13217G>A (p.Arg4406His) c.13271G>A (p.Arg4424His) c.13163G>A (p.Arg4388His) c.13340G>A (p.Arg4447His) c.13328G>A (p.Arg4443His) c.13685G>A (p.Arg4562His) c.13286G>A (p.Arg4429His) c.13274G>A (p.Arg4425His) c.13232G>A (p.Arg4411His) c.13208G>A (p.Arg4403His) c.13178G>A (p.Arg4393His) c.13355G>A (p.Arg4452His) c.13205G>A (p.Arg4402His) c.9905G>A (p.Arg3302His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916563G>A | CA372475803 | PLEC | c.13390C>T (p.Arg4464Cys) c.13309C>T (p.Arg4437Cys) c.12976C>T (p.Arg4326Cys) c.13189C>T (p.Arg4397Cys) c.13258C>T (p.Arg4420Cys) c.9958C>T (p.Arg3320Cys) c.13669C>T (p.Arg4557Cys) c.13192C>T (p.Arg4398Cys) c.13216C>T (p.Arg4406Cys) c.13270C>T (p.Arg4424Cys) c.13162C>T (p.Arg4388Cys) c.13339C>T (p.Arg4447Cys) c.13327C>T (p.Arg4443Cys) c.13684C>T (p.Arg4562Cys) c.13285C>T (p.Arg4429Cys) c.13273C>T (p.Arg4425Cys) c.13231C>T (p.Arg4411Cys) c.13207C>T (p.Arg4403Cys) c.13177C>T (p.Arg4393Cys) c.13354C>T (p.Arg4452Cys) c.13204C>T (p.Arg4402Cys) c.9904C>T (p.Arg3302Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143916563G>C | CA372475801 | PLEC | c.13390C>G (p.Arg4464Gly) c.13309C>G (p.Arg4437Gly) c.12976C>G (p.Arg4326Gly) c.13189C>G (p.Arg4397Gly) c.13258C>G (p.Arg4420Gly) c.9958C>G (p.Arg3320Gly) c.13669C>G (p.Arg4557Gly) c.13192C>G (p.Arg4398Gly) c.13216C>G (p.Arg4406Gly) c.13270C>G (p.Arg4424Gly) c.13162C>G (p.Arg4388Gly) c.13339C>G (p.Arg4447Gly) c.13327C>G (p.Arg4443Gly) c.13684C>G (p.Arg4562Gly) c.13285C>G (p.Arg4429Gly) c.13273C>G (p.Arg4425Gly) c.13231C>G (p.Arg4411Gly) c.13207C>G (p.Arg4403Gly) c.13177C>G (p.Arg4393Gly) c.13354C>G (p.Arg4452Gly) c.13204C>G (p.Arg4402Gly) c.9904C>G (p.Arg3302Gly) | |
| 8 | g.143916563G= | CA1826037390 | PLEC | c.13390C= (p.Arg4464=) c.13309C= (p.Arg4437=) c.12976C= (p.Arg4326=) c.13189C= (p.Arg4397=) c.13258C= (p.Arg4420=) c.9958C= (p.Arg3320=) c.13669C= (p.Arg4557=) c.13192C= (p.Arg4398=) c.13216C= (p.Arg4406=) c.13270C= (p.Arg4424=) c.13162C= (p.Arg4388=) c.13339C= (p.Arg4447=) c.13327C= (p.Arg4443=) c.13684C= (p.Arg4562=) c.13285C= (p.Arg4429=) c.13273C= (p.Arg4425=) c.13231C= (p.Arg4411=) c.13207C= (p.Arg4403=) c.13177C= (p.Arg4393=) c.13354C= (p.Arg4452=) c.13204C= (p.Arg4402=) c.9904C= (p.Arg3302=) | |
| 8 | g.143916563G>T | CA372475799 | PLEC | c.13390C>A (p.Arg4464Ser) c.13309C>A (p.Arg4437Ser) c.12976C>A (p.Arg4326Ser) c.13189C>A (p.Arg4397Ser) c.13258C>A (p.Arg4420Ser) c.9958C>A (p.Arg3320Ser) c.13669C>A (p.Arg4557Ser) c.13192C>A (p.Arg4398Ser) c.13216C>A (p.Arg4406Ser) c.13270C>A (p.Arg4424Ser) c.13162C>A (p.Arg4388Ser) c.13339C>A (p.Arg4447Ser) c.13327C>A (p.Arg4443Ser) c.13684C>A (p.Arg4562Ser) c.13285C>A (p.Arg4429Ser) c.13273C>A (p.Arg4425Ser) c.13231C>A (p.Arg4411Ser) c.13207C>A (p.Arg4403Ser) c.13177C>A (p.Arg4393Ser) c.13354C>A (p.Arg4452Ser) c.13204C>A (p.Arg4402Ser) c.9904C>A (p.Arg3302Ser) | |
| 8 | g.143916564G>A | CA463525693 | PLEC | c.13389C>T (p.Ala4463=) c.13308C>T (p.Ala4436=) c.12975C>T (p.Ala4325=) c.13188C>T (p.Ala4396=) c.13257C>T (p.Ala4419=) c.9957C>T (p.Ala3319=) c.13668C>T (p.Ala4556=) c.13191C>T (p.Ala4397=) c.13215C>T (p.Ala4405=) c.13269C>T (p.Ala4423=) c.13161C>T (p.Ala4387=) c.13338C>T (p.Ala4446=) c.13326C>T (p.Ala4442=) c.13683C>T (p.Ala4561=) c.13284C>T (p.Ala4428=) c.13272C>T (p.Ala4424=) c.13230C>T (p.Ala4410=) c.13206C>T (p.Ala4402=) c.13176C>T (p.Ala4392=) c.13353C>T (p.Ala4451=) c.13203C>T (p.Ala4401=) c.9903C>T (p.Ala3301=) | gnomAD v4 |
| 8 | g.143916564G>C | CA463525691 | PLEC | c.13389C>G (p.Ala4463=) c.13308C>G (p.Ala4436=) c.12975C>G (p.Ala4325=) c.13188C>G (p.Ala4396=) c.13257C>G (p.Ala4419=) c.9957C>G (p.Ala3319=) c.13668C>G (p.Ala4556=) c.13191C>G (p.Ala4397=) c.13215C>G (p.Ala4405=) c.13269C>G (p.Ala4423=) c.13161C>G (p.Ala4387=) c.13338C>G (p.Ala4446=) c.13326C>G (p.Ala4442=) c.13683C>G (p.Ala4561=) c.13284C>G (p.Ala4428=) c.13272C>G (p.Ala4424=) c.13230C>G (p.Ala4410=) c.13206C>G (p.Ala4402=) c.13176C>G (p.Ala4392=) c.13353C>G (p.Ala4451=) c.13203C>G (p.Ala4401=) c.9903C>G (p.Ala3301=) | |
| 8 | g.143916564G= | CA1826037391 | PLEC | c.13389C= (p.Ala4463=) c.13308C= (p.Ala4436=) c.12975C= (p.Ala4325=) c.13188C= (p.Ala4396=) c.13257C= (p.Ala4419=) c.9957C= (p.Ala3319=) c.13668C= (p.Ala4556=) c.13191C= (p.Ala4397=) c.13215C= (p.Ala4405=) c.13269C= (p.Ala4423=) c.13161C= (p.Ala4387=) c.13338C= (p.Ala4446=) c.13326C= (p.Ala4442=) c.13683C= (p.Ala4561=) c.13284C= (p.Ala4428=) c.13272C= (p.Ala4424=) c.13230C= (p.Ala4410=) c.13206C= (p.Ala4402=) c.13176C= (p.Ala4392=) c.13353C= (p.Ala4451=) c.13203C= (p.Ala4401=) c.9903C= (p.Ala3301=) | |
| 8 | g.143916564G>T | CA463525692 | PLEC | c.13389C>A (p.Ala4463=) c.13308C>A (p.Ala4436=) c.12975C>A (p.Ala4325=) c.13188C>A (p.Ala4396=) c.13257C>A (p.Ala4419=) c.9957C>A (p.Ala3319=) c.13668C>A (p.Ala4556=) c.13191C>A (p.Ala4397=) c.13215C>A (p.Ala4405=) c.13269C>A (p.Ala4423=) c.13161C>A (p.Ala4387=) c.13338C>A (p.Ala4446=) c.13326C>A (p.Ala4442=) c.13683C>A (p.Ala4561=) c.13284C>A (p.Ala4428=) c.13272C>A (p.Ala4424=) c.13230C>A (p.Ala4410=) c.13206C>A (p.Ala4402=) c.13176C>A (p.Ala4392=) c.13353C>A (p.Ala4451=) c.13203C>A (p.Ala4401=) c.9903C>A (p.Ala3301=) | dbSNP |
| 8 | g.143916565G>A | CA4923864 | PLEC | c.13388C>T (p.Ala4463Val) c.13307C>T (p.Ala4436Val) c.12974C>T (p.Ala4325Val) c.13187C>T (p.Ala4396Val) c.13256C>T (p.Ala4419Val) c.9956C>T (p.Ala3319Val) c.13667C>T (p.Ala4556Val) c.13190C>T (p.Ala4397Val) c.13214C>T (p.Ala4405Val) c.13268C>T (p.Ala4423Val) c.13160C>T (p.Ala4387Val) c.13337C>T (p.Ala4446Val) c.13325C>T (p.Ala4442Val) c.13682C>T (p.Ala4561Val) c.13283C>T (p.Ala4428Val) c.13271C>T (p.Ala4424Val) c.13229C>T (p.Ala4410Val) c.13205C>T (p.Ala4402Val) c.13175C>T (p.Ala4392Val) c.13352C>T (p.Ala4451Val) c.13202C>T (p.Ala4401Val) c.9902C>T (p.Ala3301Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143916565G>C | CA372475805 | PLEC | c.13388C>G (p.Ala4463Gly) c.13307C>G (p.Ala4436Gly) c.12974C>G (p.Ala4325Gly) c.13187C>G (p.Ala4396Gly) c.13256C>G (p.Ala4419Gly) c.9956C>G (p.Ala3319Gly) c.13667C>G (p.Ala4556Gly) c.13190C>G (p.Ala4397Gly) c.13214C>G (p.Ala4405Gly) c.13268C>G (p.Ala4423Gly) c.13160C>G (p.Ala4387Gly) c.13337C>G (p.Ala4446Gly) c.13325C>G (p.Ala4442Gly) c.13682C>G (p.Ala4561Gly) c.13283C>G (p.Ala4428Gly) c.13271C>G (p.Ala4424Gly) c.13229C>G (p.Ala4410Gly) c.13205C>G (p.Ala4402Gly) c.13175C>G (p.Ala4392Gly) c.13352C>G (p.Ala4451Gly) c.13202C>G (p.Ala4401Gly) c.9902C>G (p.Ala3301Gly) | gnomAD v4 |
| 8 | g.143916565G= | CA1826037393 | PLEC | c.13388C= (p.Ala4463=) c.13307C= (p.Ala4436=) c.12974C= (p.Ala4325=) c.13187C= (p.Ala4396=) c.13256C= (p.Ala4419=) c.9956C= (p.Ala3319=) c.13667C= (p.Ala4556=) c.13190C= (p.Ala4397=) c.13214C= (p.Ala4405=) c.13268C= (p.Ala4423=) c.13160C= (p.Ala4387=) c.13337C= (p.Ala4446=) c.13325C= (p.Ala4442=) c.13682C= (p.Ala4561=) c.13283C= (p.Ala4428=) c.13271C= (p.Ala4424=) c.13229C= (p.Ala4410=) c.13205C= (p.Ala4402=) c.13175C= (p.Ala4392=) c.13352C= (p.Ala4451=) c.13202C= (p.Ala4401=) c.9902C= (p.Ala3301=) | |
| 8 | g.143916565G>T | CA372475806 | PLEC | c.13388C>A (p.Ala4463Asp) c.13307C>A (p.Ala4436Asp) c.12974C>A (p.Ala4325Asp) c.13187C>A (p.Ala4396Asp) c.13256C>A (p.Ala4419Asp) c.9956C>A (p.Ala3319Asp) c.13667C>A (p.Ala4556Asp) c.13190C>A (p.Ala4397Asp) c.13214C>A (p.Ala4405Asp) c.13268C>A (p.Ala4423Asp) c.13160C>A (p.Ala4387Asp) c.13337C>A (p.Ala4446Asp) c.13325C>A (p.Ala4442Asp) c.13682C>A (p.Ala4561Asp) c.13283C>A (p.Ala4428Asp) c.13271C>A (p.Ala4424Asp) c.13229C>A (p.Ala4410Asp) c.13205C>A (p.Ala4402Asp) c.13175C>A (p.Ala4392Asp) c.13352C>A (p.Ala4451Asp) c.13202C>A (p.Ala4401Asp) c.9902C>A (p.Ala3301Asp) | gnomAD v4 |
| 8 | g.143916566C>A | CA372475808 | PLEC | c.13387G>T (p.Ala4463Ser) c.13306G>T (p.Ala4436Ser) c.12973G>T (p.Ala4325Ser) c.13186G>T (p.Ala4396Ser) c.13255G>T (p.Ala4419Ser) c.9955G>T (p.Ala3319Ser) c.13666G>T (p.Ala4556Ser) c.13189G>T (p.Ala4397Ser) c.13213G>T (p.Ala4405Ser) c.13267G>T (p.Ala4423Ser) c.13159G>T (p.Ala4387Ser) c.13336G>T (p.Ala4446Ser) c.13324G>T (p.Ala4442Ser) c.13681G>T (p.Ala4561Ser) c.13282G>T (p.Ala4428Ser) c.13270G>T (p.Ala4424Ser) c.13228G>T (p.Ala4410Ser) c.13204G>T (p.Ala4402Ser) c.13174G>T (p.Ala4392Ser) c.13351G>T (p.Ala4451Ser) c.13201G>T (p.Ala4401Ser) c.9901G>T (p.Ala3301Ser) | |
| 8 | g.143916566C= | CA1826037395 | PLEC | c.13387G= (p.Ala4463=) c.13306G= (p.Ala4436=) c.12973G= (p.Ala4325=) c.13186G= (p.Ala4396=) c.13255G= (p.Ala4419=) c.9955G= (p.Ala3319=) c.13666G= (p.Ala4556=) c.13189G= (p.Ala4397=) c.13213G= (p.Ala4405=) c.13267G= (p.Ala4423=) c.13159G= (p.Ala4387=) c.13336G= (p.Ala4446=) c.13324G= (p.Ala4442=) c.13681G= (p.Ala4561=) c.13282G= (p.Ala4428=) c.13270G= (p.Ala4424=) c.13228G= (p.Ala4410=) c.13204G= (p.Ala4402=) c.13174G= (p.Ala4392=) c.13351G= (p.Ala4451=) c.13201G= (p.Ala4401=) c.9901G= (p.Ala3301=) | |
| 8 | g.143916566C>G | CA4923865 | PLEC | c.13387G>C (p.Ala4463Pro) c.13306G>C (p.Ala4436Pro) c.12973G>C (p.Ala4325Pro) c.13186G>C (p.Ala4396Pro) c.13255G>C (p.Ala4419Pro) c.9955G>C (p.Ala3319Pro) c.13666G>C (p.Ala4556Pro) c.13189G>C (p.Ala4397Pro) c.13213G>C (p.Ala4405Pro) c.13267G>C (p.Ala4423Pro) c.13159G>C (p.Ala4387Pro) c.13336G>C (p.Ala4446Pro) c.13324G>C (p.Ala4442Pro) c.13681G>C (p.Ala4561Pro) c.13282G>C (p.Ala4428Pro) c.13270G>C (p.Ala4424Pro) c.13228G>C (p.Ala4410Pro) c.13204G>C (p.Ala4402Pro) c.13174G>C (p.Ala4392Pro) c.13351G>C (p.Ala4451Pro) c.13201G>C (p.Ala4401Pro) c.9901G>C (p.Ala3301Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143916566C>T | CA4923866 | PLEC | c.13387G>A (p.Ala4463Thr) c.13306G>A (p.Ala4436Thr) c.12973G>A (p.Ala4325Thr) c.13186G>A (p.Ala4396Thr) c.13255G>A (p.Ala4419Thr) c.9955G>A (p.Ala3319Thr) c.13666G>A (p.Ala4556Thr) c.13189G>A (p.Ala4397Thr) c.13213G>A (p.Ala4405Thr) c.13267G>A (p.Ala4423Thr) c.13159G>A (p.Ala4387Thr) c.13336G>A (p.Ala4446Thr) c.13324G>A (p.Ala4442Thr) c.13681G>A (p.Ala4561Thr) c.13282G>A (p.Ala4428Thr) c.13270G>A (p.Ala4424Thr) c.13228G>A (p.Ala4410Thr) c.13204G>A (p.Ala4402Thr) c.13174G>A (p.Ala4392Thr) c.13351G>A (p.Ala4451Thr) c.13201G>A (p.Ala4401Thr) c.9901G>A (p.Ala3301Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916567G>A | CA4923867 | PLEC | c.13386C>T (p.Asp4462=) c.13305C>T (p.Asp4435=) c.12972C>T (p.Asp4324=) c.13185C>T (p.Asp4395=) c.13254C>T (p.Asp4418=) c.9954C>T (p.Asp3318=) c.13665C>T (p.Asp4555=) c.13188C>T (p.Asp4396=) c.13212C>T (p.Asp4404=) c.13266C>T (p.Asp4422=) c.13158C>T (p.Asp4386=) c.13335C>T (p.Asp4445=) c.13323C>T (p.Asp4441=) c.13680C>T (p.Asp4560=) c.13281C>T (p.Asp4427=) c.13269C>T (p.Asp4423=) c.13227C>T (p.Asp4409=) c.13203C>T (p.Asp4401=) c.13173C>T (p.Asp4391=) c.13350C>T (p.Asp4450=) c.13200C>T (p.Asp4400=) c.9900C>T (p.Asp3300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143916567G>C | CA372475813 | PLEC | c.13386C>G (p.Asp4462Glu) c.13305C>G (p.Asp4435Glu) c.12972C>G (p.Asp4324Glu) c.13185C>G (p.Asp4395Glu) c.13254C>G (p.Asp4418Glu) c.9954C>G (p.Asp3318Glu) c.13665C>G (p.Asp4555Glu) c.13188C>G (p.Asp4396Glu) c.13212C>G (p.Asp4404Glu) c.13266C>G (p.Asp4422Glu) c.13158C>G (p.Asp4386Glu) c.13335C>G (p.Asp4445Glu) c.13323C>G (p.Asp4441Glu) c.13680C>G (p.Asp4560Glu) c.13281C>G (p.Asp4427Glu) c.13269C>G (p.Asp4423Glu) c.13227C>G (p.Asp4409Glu) c.13203C>G (p.Asp4401Glu) c.13173C>G (p.Asp4391Glu) c.13350C>G (p.Asp4450Glu) c.13200C>G (p.Asp4400Glu) c.9900C>G (p.Asp3300Glu) | |
| 8 | g.143916567G= | CA1826037399 | PLEC | c.13386C= (p.Asp4462=) c.13305C= (p.Asp4435=) c.12972C= (p.Asp4324=) c.13185C= (p.Asp4395=) c.13254C= (p.Asp4418=) c.9954C= (p.Asp3318=) c.13665C= (p.Asp4555=) c.13188C= (p.Asp4396=) c.13212C= (p.Asp4404=) c.13266C= (p.Asp4422=) c.13158C= (p.Asp4386=) c.13335C= (p.Asp4445=) c.13323C= (p.Asp4441=) c.13680C= (p.Asp4560=) c.13281C= (p.Asp4427=) c.13269C= (p.Asp4423=) c.13227C= (p.Asp4409=) c.13203C= (p.Asp4401=) c.13173C= (p.Asp4391=) c.13350C= (p.Asp4450=) c.13200C= (p.Asp4400=) c.9900C= (p.Asp3300=) | |
| 8 | g.143916567G>T | CA372475814 | PLEC | c.13386C>A (p.Asp4462Glu) c.13305C>A (p.Asp4435Glu) c.12972C>A (p.Asp4324Glu) c.13185C>A (p.Asp4395Glu) c.13254C>A (p.Asp4418Glu) c.9954C>A (p.Asp3318Glu) c.13665C>A (p.Asp4555Glu) c.13188C>A (p.Asp4396Glu) c.13212C>A (p.Asp4404Glu) c.13266C>A (p.Asp4422Glu) c.13158C>A (p.Asp4386Glu) c.13335C>A (p.Asp4445Glu) c.13323C>A (p.Asp4441Glu) c.13680C>A (p.Asp4560Glu) c.13281C>A (p.Asp4427Glu) c.13269C>A (p.Asp4423Glu) c.13227C>A (p.Asp4409Glu) c.13203C>A (p.Asp4401Glu) c.13173C>A (p.Asp4391Glu) c.13350C>A (p.Asp4450Glu) c.13200C>A (p.Asp4400Glu) c.9900C>A (p.Asp3300Glu) | gnomAD v4 |
| 8 | g.143916568T>A | CA187606685 | PLEC | c.13385A>T (p.Asp4462Val) c.13304A>T (p.Asp4435Val) c.12971A>T (p.Asp4324Val) c.13184A>T (p.Asp4395Val) c.13253A>T (p.Asp4418Val) c.9953A>T (p.Asp3318Val) c.13664A>T (p.Asp4555Val) c.13187A>T (p.Asp4396Val) c.13211A>T (p.Asp4404Val) c.13265A>T (p.Asp4422Val) c.13157A>T (p.Asp4386Val) c.13334A>T (p.Asp4445Val) c.13322A>T (p.Asp4441Val) c.13679A>T (p.Asp4560Val) c.13280A>T (p.Asp4427Val) c.13268A>T (p.Asp4423Val) c.13226A>T (p.Asp4409Val) c.13202A>T (p.Asp4401Val) c.13172A>T (p.Asp4391Val) c.13349A>T (p.Asp4450Val) c.13199A>T (p.Asp4400Val) c.9899A>T (p.Asp3300Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143916568T>C | CA372475816 | PLEC | c.13385A>G (p.Asp4462Gly) c.13304A>G (p.Asp4435Gly) c.12971A>G (p.Asp4324Gly) c.13184A>G (p.Asp4395Gly) c.13253A>G (p.Asp4418Gly) c.9953A>G (p.Asp3318Gly) c.13664A>G (p.Asp4555Gly) c.13187A>G (p.Asp4396Gly) c.13211A>G (p.Asp4404Gly) c.13265A>G (p.Asp4422Gly) c.13157A>G (p.Asp4386Gly) c.13334A>G (p.Asp4445Gly) c.13322A>G (p.Asp4441Gly) c.13679A>G (p.Asp4560Gly) c.13280A>G (p.Asp4427Gly) c.13268A>G (p.Asp4423Gly) c.13226A>G (p.Asp4409Gly) c.13202A>G (p.Asp4401Gly) c.13172A>G (p.Asp4391Gly) c.13349A>G (p.Asp4450Gly) c.13199A>G (p.Asp4400Gly) c.9899A>G (p.Asp3300Gly) | |
| 8 | g.143916568T>G | CA372475818 | PLEC | c.13385A>C (p.Asp4462Ala) c.13304A>C (p.Asp4435Ala) c.12971A>C (p.Asp4324Ala) c.13184A>C (p.Asp4395Ala) c.13253A>C (p.Asp4418Ala) c.9953A>C (p.Asp3318Ala) c.13664A>C (p.Asp4555Ala) c.13187A>C (p.Asp4396Ala) c.13211A>C (p.Asp4404Ala) c.13265A>C (p.Asp4422Ala) c.13157A>C (p.Asp4386Ala) c.13334A>C (p.Asp4445Ala) c.13322A>C (p.Asp4441Ala) c.13679A>C (p.Asp4560Ala) c.13280A>C (p.Asp4427Ala) c.13268A>C (p.Asp4423Ala) c.13226A>C (p.Asp4409Ala) c.13202A>C (p.Asp4401Ala) c.13172A>C (p.Asp4391Ala) c.13349A>C (p.Asp4450Ala) c.13199A>C (p.Asp4400Ala) c.9899A>C (p.Asp3300Ala) | |
| 8 | g.143916568T= | CA1826037404 | PLEC | c.13385A= (p.Asp4462=) c.13304A= (p.Asp4435=) c.12971A= (p.Asp4324=) c.13184A= (p.Asp4395=) c.13253A= (p.Asp4418=) c.9953A= (p.Asp3318=) c.13664A= (p.Asp4555=) c.13187A= (p.Asp4396=) c.13211A= (p.Asp4404=) c.13265A= (p.Asp4422=) c.13157A= (p.Asp4386=) c.13334A= (p.Asp4445=) c.13322A= (p.Asp4441=) c.13679A= (p.Asp4560=) c.13280A= (p.Asp4427=) c.13268A= (p.Asp4423=) c.13226A= (p.Asp4409=) c.13202A= (p.Asp4401=) c.13172A= (p.Asp4391=) c.13349A= (p.Asp4450=) c.13199A= (p.Asp4400=) c.9899A= (p.Asp3300=) | |
| 8 | g.143916569C>A | CA372475823 | PLEC | c.13384G>T (p.Asp4462Tyr) c.13303G>T (p.Asp4435Tyr) c.12970G>T (p.Asp4324Tyr) c.13183G>T (p.Asp4395Tyr) c.13252G>T (p.Asp4418Tyr) c.9952G>T (p.Asp3318Tyr) c.13663G>T (p.Asp4555Tyr) c.13186G>T (p.Asp4396Tyr) c.13210G>T (p.Asp4404Tyr) c.13264G>T (p.Asp4422Tyr) c.13156G>T (p.Asp4386Tyr) c.13333G>T (p.Asp4445Tyr) c.13321G>T (p.Asp4441Tyr) c.13678G>T (p.Asp4560Tyr) c.13279G>T (p.Asp4427Tyr) c.13267G>T (p.Asp4423Tyr) c.13225G>T (p.Asp4409Tyr) c.13201G>T (p.Asp4401Tyr) c.13171G>T (p.Asp4391Tyr) c.13348G>T (p.Asp4450Tyr) c.13198G>T (p.Asp4400Tyr) c.9898G>T (p.Asp3300Tyr) | |
| 8 | g.143916569C= | CA1826037406 | PLEC | c.13384G= (p.Asp4462=) c.13303G= (p.Asp4435=) c.12970G= (p.Asp4324=) c.13183G= (p.Asp4395=) c.13252G= (p.Asp4418=) c.9952G= (p.Asp3318=) c.13663G= (p.Asp4555=) c.13186G= (p.Asp4396=) c.13210G= (p.Asp4404=) c.13264G= (p.Asp4422=) c.13156G= (p.Asp4386=) c.13333G= (p.Asp4445=) c.13321G= (p.Asp4441=) c.13678G= (p.Asp4560=) c.13279G= (p.Asp4427=) c.13267G= (p.Asp4423=) c.13225G= (p.Asp4409=) c.13201G= (p.Asp4401=) c.13171G= (p.Asp4391=) c.13348G= (p.Asp4450=) c.13198G= (p.Asp4400=) c.9898G= (p.Asp3300=) | |
| 8 | g.143916569C>G | CA372475821 | PLEC | c.13384G>C (p.Asp4462His) c.13303G>C (p.Asp4435His) c.12970G>C (p.Asp4324His) c.13183G>C (p.Asp4395His) c.13252G>C (p.Asp4418His) c.9952G>C (p.Asp3318His) c.13663G>C (p.Asp4555His) c.13186G>C (p.Asp4396His) c.13210G>C (p.Asp4404His) c.13264G>C (p.Asp4422His) c.13156G>C (p.Asp4386His) c.13333G>C (p.Asp4445His) c.13321G>C (p.Asp4441His) c.13678G>C (p.Asp4560His) c.13279G>C (p.Asp4427His) c.13267G>C (p.Asp4423His) c.13225G>C (p.Asp4409His) c.13201G>C (p.Asp4401His) c.13171G>C (p.Asp4391His) c.13348G>C (p.Asp4450His) c.13198G>C (p.Asp4400His) c.9898G>C (p.Asp3300His) | |
| 8 | g.143916569C>T | CA372475820 | PLEC | c.13384G>A (p.Asp4462Asn) c.13303G>A (p.Asp4435Asn) c.12970G>A (p.Asp4324Asn) c.13183G>A (p.Asp4395Asn) c.13252G>A (p.Asp4418Asn) c.9952G>A (p.Asp3318Asn) c.13663G>A (p.Asp4555Asn) c.13186G>A (p.Asp4396Asn) c.13210G>A (p.Asp4404Asn) c.13264G>A (p.Asp4422Asn) c.13156G>A (p.Asp4386Asn) c.13333G>A (p.Asp4445Asn) c.13321G>A (p.Asp4441Asn) c.13678G>A (p.Asp4560Asn) c.13279G>A (p.Asp4427Asn) c.13267G>A (p.Asp4423Asn) c.13225G>A (p.Asp4409Asn) c.13201G>A (p.Asp4401Asn) c.13171G>A (p.Asp4391Asn) c.13348G>A (p.Asp4450Asn) c.13198G>A (p.Asp4400Asn) c.9898G>A (p.Asp3300Asn) | dbSNP |
| 8 | g.143916570C>A | CA463525694 | PLEC | c.13383G>T (p.Val4461=) c.13302G>T (p.Val4434=) c.12969G>T (p.Val4323=) c.13182G>T (p.Val4394=) c.13251G>T (p.Val4417=) c.9951G>T (p.Val3317=) c.13662G>T (p.Val4554=) c.13185G>T (p.Val4395=) c.13209G>T (p.Val4403=) c.13263G>T (p.Val4421=) c.13155G>T (p.Val4385=) c.13332G>T (p.Val4444=) c.13320G>T (p.Val4440=) c.13677G>T (p.Val4559=) c.13278G>T (p.Val4426=) c.13266G>T (p.Val4422=) c.13224G>T (p.Val4408=) c.13200G>T (p.Val4400=) c.13170G>T (p.Val4390=) c.13347G>T (p.Val4449=) c.13197G>T (p.Val4399=) c.9897G>T (p.Val3299=) | |
| 8 | g.143916570C>G | CA463525695 | PLEC | c.13383G>C (p.Val4461=) c.13302G>C (p.Val4434=) c.12969G>C (p.Val4323=) c.13182G>C (p.Val4394=) c.13251G>C (p.Val4417=) c.9951G>C (p.Val3317=) c.13662G>C (p.Val4554=) c.13185G>C (p.Val4395=) c.13209G>C (p.Val4403=) c.13263G>C (p.Val4421=) c.13155G>C (p.Val4385=) c.13332G>C (p.Val4444=) c.13320G>C (p.Val4440=) c.13677G>C (p.Val4559=) c.13278G>C (p.Val4426=) c.13266G>C (p.Val4422=) c.13224G>C (p.Val4408=) c.13200G>C (p.Val4400=) c.13170G>C (p.Val4390=) c.13347G>C (p.Val4449=) c.13197G>C (p.Val4399=) c.9897G>C (p.Val3299=) | |
| 8 | g.143916570C>T | CA463525696 | PLEC | c.13383G>A (p.Val4461=) c.13302G>A (p.Val4434=) c.12969G>A (p.Val4323=) c.13182G>A (p.Val4394=) c.13251G>A (p.Val4417=) c.9951G>A (p.Val3317=) c.13662G>A (p.Val4554=) c.13185G>A (p.Val4395=) c.13209G>A (p.Val4403=) c.13263G>A (p.Val4421=) c.13155G>A (p.Val4385=) c.13332G>A (p.Val4444=) c.13320G>A (p.Val4440=) c.13677G>A (p.Val4559=) c.13278G>A (p.Val4426=) c.13266G>A (p.Val4422=) c.13224G>A (p.Val4408=) c.13200G>A (p.Val4400=) c.13170G>A (p.Val4390=) c.13347G>A (p.Val4449=) c.13197G>A (p.Val4399=) c.9897G>A (p.Val3299=) | |
| 8 | g.143916571A= | CA1826037407 | PLEC | c.13382T= (p.Val4461=) c.13301T= (p.Val4434=) c.12968T= (p.Val4323=) c.13181T= (p.Val4394=) c.13250T= (p.Val4417=) c.9950T= (p.Val3317=) c.13661T= (p.Val4554=) c.13184T= (p.Val4395=) c.13208T= (p.Val4403=) c.13262T= (p.Val4421=) c.13154T= (p.Val4385=) c.13331T= (p.Val4444=) c.13319T= (p.Val4440=) c.13676T= (p.Val4559=) c.13277T= (p.Val4426=) c.13265T= (p.Val4422=) c.13223T= (p.Val4408=) c.13199T= (p.Val4400=) c.13169T= (p.Val4390=) c.13346T= (p.Val4449=) c.13196T= (p.Val4399=) c.9896T= (p.Val3299=) | |
| 8 | g.143916571A>C | CA372475829 | PLEC | c.13382T>G (p.Val4461Gly) c.13301T>G (p.Val4434Gly) c.12968T>G (p.Val4323Gly) c.13181T>G (p.Val4394Gly) c.13250T>G (p.Val4417Gly) c.9950T>G (p.Val3317Gly) c.13661T>G (p.Val4554Gly) c.13184T>G (p.Val4395Gly) c.13208T>G (p.Val4403Gly) c.13262T>G (p.Val4421Gly) c.13154T>G (p.Val4385Gly) c.13331T>G (p.Val4444Gly) c.13319T>G (p.Val4440Gly) c.13676T>G (p.Val4559Gly) c.13277T>G (p.Val4426Gly) c.13265T>G (p.Val4422Gly) c.13223T>G (p.Val4408Gly) c.13199T>G (p.Val4400Gly) c.13169T>G (p.Val4390Gly) c.13346T>G (p.Val4449Gly) c.13196T>G (p.Val4399Gly) c.9896T>G (p.Val3299Gly) | |
| 8 | g.143916571A>G | CA372475825 | PLEC | c.13382T>C (p.Val4461Ala) c.13301T>C (p.Val4434Ala) c.12968T>C (p.Val4323Ala) c.13181T>C (p.Val4394Ala) c.13250T>C (p.Val4417Ala) c.9950T>C (p.Val3317Ala) c.13661T>C (p.Val4554Ala) c.13184T>C (p.Val4395Ala) c.13208T>C (p.Val4403Ala) c.13262T>C (p.Val4421Ala) c.13154T>C (p.Val4385Ala) c.13331T>C (p.Val4444Ala) c.13319T>C (p.Val4440Ala) c.13676T>C (p.Val4559Ala) c.13277T>C (p.Val4426Ala) c.13265T>C (p.Val4422Ala) c.13223T>C (p.Val4408Ala) c.13199T>C (p.Val4400Ala) c.13169T>C (p.Val4390Ala) c.13346T>C (p.Val4449Ala) c.13196T>C (p.Val4399Ala) c.9896T>C (p.Val3299Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143916571A>T | CA372475827 | PLEC | c.13382T>A (p.Val4461Glu) c.13301T>A (p.Val4434Glu) c.12968T>A (p.Val4323Glu) c.13181T>A (p.Val4394Glu) c.13250T>A (p.Val4417Glu) c.9950T>A (p.Val3317Glu) c.13661T>A (p.Val4554Glu) c.13184T>A (p.Val4395Glu) c.13208T>A (p.Val4403Glu) c.13262T>A (p.Val4421Glu) c.13154T>A (p.Val4385Glu) c.13331T>A (p.Val4444Glu) c.13319T>A (p.Val4440Glu) c.13676T>A (p.Val4559Glu) c.13277T>A (p.Val4426Glu) c.13265T>A (p.Val4422Glu) c.13223T>A (p.Val4408Glu) c.13199T>A (p.Val4400Glu) c.13169T>A (p.Val4390Glu) c.13346T>A (p.Val4449Glu) c.13196T>A (p.Val4399Glu) c.9896T>A (p.Val3299Glu) | |
| 8 | g.143916572C>A | CA372475831 | PLEC | c.13381G>T (p.Val4461Leu) c.13300G>T (p.Val4434Leu) c.12967G>T (p.Val4323Leu) c.13180G>T (p.Val4394Leu) c.13249G>T (p.Val4417Leu) c.9949G>T (p.Val3317Leu) c.13660G>T (p.Val4554Leu) c.13183G>T (p.Val4395Leu) c.13207G>T (p.Val4403Leu) c.13261G>T (p.Val4421Leu) c.13153G>T (p.Val4385Leu) c.13330G>T (p.Val4444Leu) c.13318G>T (p.Val4440Leu) c.13675G>T (p.Val4559Leu) c.13276G>T (p.Val4426Leu) c.13264G>T (p.Val4422Leu) c.13222G>T (p.Val4408Leu) c.13198G>T (p.Val4400Leu) c.13168G>T (p.Val4390Leu) c.13345G>T (p.Val4449Leu) c.13195G>T (p.Val4399Leu) c.9895G>T (p.Val3299Leu) | |
| 8 | g.143916572C>G | CA372475832 | PLEC | c.13381G>C (p.Val4461Leu) c.13300G>C (p.Val4434Leu) c.12967G>C (p.Val4323Leu) c.13180G>C (p.Val4394Leu) c.13249G>C (p.Val4417Leu) c.9949G>C (p.Val3317Leu) c.13660G>C (p.Val4554Leu) c.13183G>C (p.Val4395Leu) c.13207G>C (p.Val4403Leu) c.13261G>C (p.Val4421Leu) c.13153G>C (p.Val4385Leu) c.13330G>C (p.Val4444Leu) c.13318G>C (p.Val4440Leu) c.13675G>C (p.Val4559Leu) c.13276G>C (p.Val4426Leu) c.13264G>C (p.Val4422Leu) c.13222G>C (p.Val4408Leu) c.13198G>C (p.Val4400Leu) c.13168G>C (p.Val4390Leu) c.13345G>C (p.Val4449Leu) c.13195G>C (p.Val4399Leu) c.9895G>C (p.Val3299Leu) | gnomAD v4 |
| 8 | g.143916572C>T | CA372475834 | PLEC | c.13381G>A (p.Val4461Met) c.13300G>A (p.Val4434Met) c.12967G>A (p.Val4323Met) c.13180G>A (p.Val4394Met) c.13249G>A (p.Val4417Met) c.9949G>A (p.Val3317Met) c.13660G>A (p.Val4554Met) c.13183G>A (p.Val4395Met) c.13207G>A (p.Val4403Met) c.13261G>A (p.Val4421Met) c.13153G>A (p.Val4385Met) c.13330G>A (p.Val4444Met) c.13318G>A (p.Val4440Met) c.13675G>A (p.Val4559Met) c.13276G>A (p.Val4426Met) c.13264G>A (p.Val4422Met) c.13222G>A (p.Val4408Met) c.13198G>A (p.Val4400Met) c.13168G>A (p.Val4390Met) c.13345G>A (p.Val4449Met) c.13195G>A (p.Val4399Met) c.9895G>A (p.Val3299Met) | |
| 8 | g.143916573C>A | CA463525697 | PLEC | c.13380G>T (p.Thr4460=) c.13299G>T (p.Thr4433=) c.12966G>T (p.Thr4322=) c.13179G>T (p.Thr4393=) c.13248G>T (p.Thr4416=) c.9948G>T (p.Thr3316=) c.13659G>T (p.Thr4553=) c.13182G>T (p.Thr4394=) c.13206G>T (p.Thr4402=) c.13260G>T (p.Thr4420=) c.13152G>T (p.Thr4384=) c.13329G>T (p.Thr4443=) c.13317G>T (p.Thr4439=) c.13674G>T (p.Thr4558=) c.13275G>T (p.Thr4425=) c.13263G>T (p.Thr4421=) c.13221G>T (p.Thr4407=) c.13197G>T (p.Thr4399=) c.13167G>T (p.Thr4389=) c.13344G>T (p.Thr4448=) c.13194G>T (p.Thr4398=) c.9894G>T (p.Thr3298=) | gnomAD v4 |
| 8 | g.143916573C= | CA1826037409 | PLEC | c.13380G= (p.Thr4460=) c.13299G= (p.Thr4433=) c.12966G= (p.Thr4322=) c.13179G= (p.Thr4393=) c.13248G= (p.Thr4416=) c.9948G= (p.Thr3316=) c.13659G= (p.Thr4553=) c.13182G= (p.Thr4394=) c.13206G= (p.Thr4402=) c.13260G= (p.Thr4420=) c.13152G= (p.Thr4384=) c.13329G= (p.Thr4443=) c.13317G= (p.Thr4439=) c.13674G= (p.Thr4558=) c.13275G= (p.Thr4425=) c.13263G= (p.Thr4421=) c.13221G= (p.Thr4407=) c.13197G= (p.Thr4399=) c.13167G= (p.Thr4389=) c.13344G= (p.Thr4448=) c.13194G= (p.Thr4398=) c.9894G= (p.Thr3298=) | |
| 8 | g.143916573C>G | CA463525698 | PLEC | c.13380G>C (p.Thr4460=) c.13299G>C (p.Thr4433=) c.12966G>C (p.Thr4322=) c.13179G>C (p.Thr4393=) c.13248G>C (p.Thr4416=) c.9948G>C (p.Thr3316=) c.13659G>C (p.Thr4553=) c.13182G>C (p.Thr4394=) c.13206G>C (p.Thr4402=) c.13260G>C (p.Thr4420=) c.13152G>C (p.Thr4384=) c.13329G>C (p.Thr4443=) c.13317G>C (p.Thr4439=) c.13674G>C (p.Thr4558=) c.13275G>C (p.Thr4425=) c.13263G>C (p.Thr4421=) c.13221G>C (p.Thr4407=) c.13197G>C (p.Thr4399=) c.13167G>C (p.Thr4389=) c.13344G>C (p.Thr4448=) c.13194G>C (p.Thr4398=) c.9894G>C (p.Thr3298=) | gnomAD v4 |
| 8 | g.143916573C>T | CA4923868 | PLEC | c.13380G>A (p.Thr4460=) c.13299G>A (p.Thr4433=) c.12966G>A (p.Thr4322=) c.13179G>A (p.Thr4393=) c.13248G>A (p.Thr4416=) c.9948G>A (p.Thr3316=) c.13659G>A (p.Thr4553=) c.13182G>A (p.Thr4394=) c.13206G>A (p.Thr4402=) c.13260G>A (p.Thr4420=) c.13152G>A (p.Thr4384=) c.13329G>A (p.Thr4443=) c.13317G>A (p.Thr4439=) c.13674G>A (p.Thr4558=) c.13275G>A (p.Thr4425=) c.13263G>A (p.Thr4421=) c.13221G>A (p.Thr4407=) c.13197G>A (p.Thr4399=) c.13167G>A (p.Thr4389=) c.13344G>A (p.Thr4448=) c.13194G>A (p.Thr4398=) c.9894G>A (p.Thr3298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916574G>A | CA4923869 | PLEC | c.13379C>T (p.Thr4460Met) c.13298C>T (p.Thr4433Met) c.12965C>T (p.Thr4322Met) c.13178C>T (p.Thr4393Met) c.13247C>T (p.Thr4416Met) c.9947C>T (p.Thr3316Met) c.13658C>T (p.Thr4553Met) c.13181C>T (p.Thr4394Met) c.13205C>T (p.Thr4402Met) c.13259C>T (p.Thr4420Met) c.13151C>T (p.Thr4384Met) c.13328C>T (p.Thr4443Met) c.13316C>T (p.Thr4439Met) c.13673C>T (p.Thr4558Met) c.13274C>T (p.Thr4425Met) c.13262C>T (p.Thr4421Met) c.13220C>T (p.Thr4407Met) c.13196C>T (p.Thr4399Met) c.13166C>T (p.Thr4389Met) c.13343C>T (p.Thr4448Met) c.13193C>T (p.Thr4398Met) c.9893C>T (p.Thr3298Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916574G>C | CA372475837 | PLEC | c.13379C>G (p.Thr4460Arg) c.13298C>G (p.Thr4433Arg) c.12965C>G (p.Thr4322Arg) c.13178C>G (p.Thr4393Arg) c.13247C>G (p.Thr4416Arg) c.9947C>G (p.Thr3316Arg) c.13658C>G (p.Thr4553Arg) c.13181C>G (p.Thr4394Arg) c.13205C>G (p.Thr4402Arg) c.13259C>G (p.Thr4420Arg) c.13151C>G (p.Thr4384Arg) c.13328C>G (p.Thr4443Arg) c.13316C>G (p.Thr4439Arg) c.13673C>G (p.Thr4558Arg) c.13274C>G (p.Thr4425Arg) c.13262C>G (p.Thr4421Arg) c.13220C>G (p.Thr4407Arg) c.13196C>G (p.Thr4399Arg) c.13166C>G (p.Thr4389Arg) c.13343C>G (p.Thr4448Arg) c.13193C>G (p.Thr4398Arg) c.9893C>G (p.Thr3298Arg) | gnomAD v4 |
| 8 | g.143916574G= | CA1826037411 | PLEC | c.13379C= (p.Thr4460=) c.13298C= (p.Thr4433=) c.12965C= (p.Thr4322=) c.13178C= (p.Thr4393=) c.13247C= (p.Thr4416=) c.9947C= (p.Thr3316=) c.13658C= (p.Thr4553=) c.13181C= (p.Thr4394=) c.13205C= (p.Thr4402=) c.13259C= (p.Thr4420=) c.13151C= (p.Thr4384=) c.13328C= (p.Thr4443=) c.13316C= (p.Thr4439=) c.13673C= (p.Thr4558=) c.13274C= (p.Thr4425=) c.13262C= (p.Thr4421=) c.13220C= (p.Thr4407=) c.13196C= (p.Thr4399=) c.13166C= (p.Thr4389=) c.13343C= (p.Thr4448=) c.13193C= (p.Thr4398=) c.9893C= (p.Thr3298=) | |
| 8 | g.143916574G>T | CA372475839 | PLEC | c.13379C>A (p.Thr4460Lys) c.13298C>A (p.Thr4433Lys) c.12965C>A (p.Thr4322Lys) c.13178C>A (p.Thr4393Lys) c.13247C>A (p.Thr4416Lys) c.9947C>A (p.Thr3316Lys) c.13658C>A (p.Thr4553Lys) c.13181C>A (p.Thr4394Lys) c.13205C>A (p.Thr4402Lys) c.13259C>A (p.Thr4420Lys) c.13151C>A (p.Thr4384Lys) c.13328C>A (p.Thr4443Lys) c.13316C>A (p.Thr4439Lys) c.13673C>A (p.Thr4558Lys) c.13274C>A (p.Thr4425Lys) c.13262C>A (p.Thr4421Lys) c.13220C>A (p.Thr4407Lys) c.13196C>A (p.Thr4399Lys) c.13166C>A (p.Thr4389Lys) c.13343C>A (p.Thr4448Lys) c.13193C>A (p.Thr4398Lys) c.9893C>A (p.Thr3298Lys) | dbSNP |
| 8 | g.143916575T>A | CA372475841 | PLEC | c.13378A>T (p.Thr4460Ser) c.13297A>T (p.Thr4433Ser) c.12964A>T (p.Thr4322Ser) c.13177A>T (p.Thr4393Ser) c.13246A>T (p.Thr4416Ser) c.9946A>T (p.Thr3316Ser) c.13657A>T (p.Thr4553Ser) c.13180A>T (p.Thr4394Ser) c.13204A>T (p.Thr4402Ser) c.13258A>T (p.Thr4420Ser) c.13150A>T (p.Thr4384Ser) c.13327A>T (p.Thr4443Ser) c.13315A>T (p.Thr4439Ser) c.13672A>T (p.Thr4558Ser) c.13273A>T (p.Thr4425Ser) c.13261A>T (p.Thr4421Ser) c.13219A>T (p.Thr4407Ser) c.13195A>T (p.Thr4399Ser) c.13165A>T (p.Thr4389Ser) c.13342A>T (p.Thr4448Ser) c.13192A>T (p.Thr4398Ser) c.9892A>T (p.Thr3298Ser) | |
| 8 | g.143916575T>C | CA372475843 | PLEC | c.13378A>G (p.Thr4460Ala) c.13297A>G (p.Thr4433Ala) c.12964A>G (p.Thr4322Ala) c.13177A>G (p.Thr4393Ala) c.13246A>G (p.Thr4416Ala) c.9946A>G (p.Thr3316Ala) c.13657A>G (p.Thr4553Ala) c.13180A>G (p.Thr4394Ala) c.13204A>G (p.Thr4402Ala) c.13258A>G (p.Thr4420Ala) c.13150A>G (p.Thr4384Ala) c.13327A>G (p.Thr4443Ala) c.13315A>G (p.Thr4439Ala) c.13672A>G (p.Thr4558Ala) c.13273A>G (p.Thr4425Ala) c.13261A>G (p.Thr4421Ala) c.13219A>G (p.Thr4407Ala) c.13195A>G (p.Thr4399Ala) c.13165A>G (p.Thr4389Ala) c.13342A>G (p.Thr4448Ala) c.13192A>G (p.Thr4398Ala) c.9892A>G (p.Thr3298Ala) | |
| 8 | g.143916575T>G | CA372475845 | PLEC | c.13378A>C (p.Thr4460Pro) c.13297A>C (p.Thr4433Pro) c.12964A>C (p.Thr4322Pro) c.13177A>C (p.Thr4393Pro) c.13246A>C (p.Thr4416Pro) c.9946A>C (p.Thr3316Pro) c.13657A>C (p.Thr4553Pro) c.13180A>C (p.Thr4394Pro) c.13204A>C (p.Thr4402Pro) c.13258A>C (p.Thr4420Pro) c.13150A>C (p.Thr4384Pro) c.13327A>C (p.Thr4443Pro) c.13315A>C (p.Thr4439Pro) c.13672A>C (p.Thr4558Pro) c.13273A>C (p.Thr4425Pro) c.13261A>C (p.Thr4421Pro) c.13219A>C (p.Thr4407Pro) c.13195A>C (p.Thr4399Pro) c.13165A>C (p.Thr4389Pro) c.13342A>C (p.Thr4448Pro) c.13192A>C (p.Thr4398Pro) c.9892A>C (p.Thr3298Pro) | |
| 8 | g.143916576G>A | CA463525700 | PLEC | c.13377C>T (p.Gly4459=) c.13296C>T (p.Gly4432=) c.12963C>T (p.Gly4321=) c.13176C>T (p.Gly4392=) c.13245C>T (p.Gly4415=) c.9945C>T (p.Gly3315=) c.13656C>T (p.Gly4552=) c.13179C>T (p.Gly4393=) c.13203C>T (p.Gly4401=) c.13257C>T (p.Gly4419=) c.13149C>T (p.Gly4383=) c.13326C>T (p.Gly4442=) c.13314C>T (p.Gly4438=) c.13671C>T (p.Gly4557=) c.13272C>T (p.Gly4424=) c.13260C>T (p.Gly4420=) c.13218C>T (p.Gly4406=) c.13194C>T (p.Gly4398=) c.13164C>T (p.Gly4388=) c.13341C>T (p.Gly4447=) c.13191C>T (p.Gly4397=) c.9891C>T (p.Gly3297=) | |
| 8 | g.143916576G>C | CA463525699 | PLEC | c.13377C>G (p.Gly4459=) c.13296C>G (p.Gly4432=) c.12963C>G (p.Gly4321=) c.13176C>G (p.Gly4392=) c.13245C>G (p.Gly4415=) c.9945C>G (p.Gly3315=) c.13656C>G (p.Gly4552=) c.13179C>G (p.Gly4393=) c.13203C>G (p.Gly4401=) c.13257C>G (p.Gly4419=) c.13149C>G (p.Gly4383=) c.13326C>G (p.Gly4442=) c.13314C>G (p.Gly4438=) c.13671C>G (p.Gly4557=) c.13272C>G (p.Gly4424=) c.13260C>G (p.Gly4420=) c.13218C>G (p.Gly4406=) c.13194C>G (p.Gly4398=) c.13164C>G (p.Gly4388=) c.13341C>G (p.Gly4447=) c.13191C>G (p.Gly4397=) c.9891C>G (p.Gly3297=) | |
| 8 | g.143916576G= | CA1826037415 | PLEC | c.13377C= (p.Gly4459=) c.13296C= (p.Gly4432=) c.12963C= (p.Gly4321=) c.13176C= (p.Gly4392=) c.13245C= (p.Gly4415=) c.9945C= (p.Gly3315=) c.13656C= (p.Gly4552=) c.13179C= (p.Gly4393=) c.13203C= (p.Gly4401=) c.13257C= (p.Gly4419=) c.13149C= (p.Gly4383=) c.13326C= (p.Gly4442=) c.13314C= (p.Gly4438=) c.13671C= (p.Gly4557=) c.13272C= (p.Gly4424=) c.13260C= (p.Gly4420=) c.13218C= (p.Gly4406=) c.13194C= (p.Gly4398=) c.13164C= (p.Gly4388=) c.13341C= (p.Gly4447=) c.13191C= (p.Gly4397=) c.9891C= (p.Gly3297=) | |
| 8 | g.143916576G>T | CA4923870 | PLEC | c.13377C>A (p.Gly4459=) c.13296C>A (p.Gly4432=) c.12963C>A (p.Gly4321=) c.13176C>A (p.Gly4392=) c.13245C>A (p.Gly4415=) c.9945C>A (p.Gly3315=) c.13656C>A (p.Gly4552=) c.13179C>A (p.Gly4393=) c.13203C>A (p.Gly4401=) c.13257C>A (p.Gly4419=) c.13149C>A (p.Gly4383=) c.13326C>A (p.Gly4442=) c.13314C>A (p.Gly4438=) c.13671C>A (p.Gly4557=) c.13272C>A (p.Gly4424=) c.13260C>A (p.Gly4420=) c.13218C>A (p.Gly4406=) c.13194C>A (p.Gly4398=) c.13164C>A (p.Gly4388=) c.13341C>A (p.Gly4447=) c.13191C>A (p.Gly4397=) c.9891C>A (p.Gly3297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143916577C>A | CA372475849 | PLEC | c.13376G>T (p.Gly4459Val) c.13295G>T (p.Gly4432Val) c.12962G>T (p.Gly4321Val) c.13175G>T (p.Gly4392Val) c.13244G>T (p.Gly4415Val) c.9944G>T (p.Gly3315Val) c.13655G>T (p.Gly4552Val) c.13178G>T (p.Gly4393Val) c.13202G>T (p.Gly4401Val) c.13256G>T (p.Gly4419Val) c.13148G>T (p.Gly4383Val) c.13325G>T (p.Gly4442Val) c.13313G>T (p.Gly4438Val) c.13670G>T (p.Gly4557Val) c.13271G>T (p.Gly4424Val) c.13259G>T (p.Gly4420Val) c.13217G>T (p.Gly4406Val) c.13193G>T (p.Gly4398Val) c.13163G>T (p.Gly4388Val) c.13340G>T (p.Gly4447Val) c.13190G>T (p.Gly4397Val) c.9890G>T (p.Gly3297Val) | |
| 8 | g.143916577C>G | CA372475847 | PLEC | c.13376G>C (p.Gly4459Ala) c.13295G>C (p.Gly4432Ala) c.12962G>C (p.Gly4321Ala) c.13175G>C (p.Gly4392Ala) c.13244G>C (p.Gly4415Ala) c.9944G>C (p.Gly3315Ala) c.13655G>C (p.Gly4552Ala) c.13178G>C (p.Gly4393Ala) c.13202G>C (p.Gly4401Ala) c.13256G>C (p.Gly4419Ala) c.13148G>C (p.Gly4383Ala) c.13325G>C (p.Gly4442Ala) c.13313G>C (p.Gly4438Ala) c.13670G>C (p.Gly4557Ala) c.13271G>C (p.Gly4424Ala) c.13259G>C (p.Gly4420Ala) c.13217G>C (p.Gly4406Ala) c.13193G>C (p.Gly4398Ala) c.13163G>C (p.Gly4388Ala) c.13340G>C (p.Gly4447Ala) c.13190G>C (p.Gly4397Ala) c.9890G>C (p.Gly3297Ala) | |
| 8 | g.143916577C>T | CA372475848 | PLEC | c.13376G>A (p.Gly4459Asp) c.13295G>A (p.Gly4432Asp) c.12962G>A (p.Gly4321Asp) c.13175G>A (p.Gly4392Asp) c.13244G>A (p.Gly4415Asp) c.9944G>A (p.Gly3315Asp) c.13655G>A (p.Gly4552Asp) c.13178G>A (p.Gly4393Asp) c.13202G>A (p.Gly4401Asp) c.13256G>A (p.Gly4419Asp) c.13148G>A (p.Gly4383Asp) c.13325G>A (p.Gly4442Asp) c.13313G>A (p.Gly4438Asp) c.13670G>A (p.Gly4557Asp) c.13271G>A (p.Gly4424Asp) c.13259G>A (p.Gly4420Asp) c.13217G>A (p.Gly4406Asp) c.13193G>A (p.Gly4398Asp) c.13163G>A (p.Gly4388Asp) c.13340G>A (p.Gly4447Asp) c.13190G>A (p.Gly4397Asp) c.9890G>A (p.Gly3297Asp) | gnomAD v4 |
| 8 | g.143916578C>A | CA372475851 | PLEC | c.13375G>T (p.Gly4459Cys) c.13294G>T (p.Gly4432Cys) c.12961G>T (p.Gly4321Cys) c.13174G>T (p.Gly4392Cys) c.13243G>T (p.Gly4415Cys) c.9943G>T (p.Gly3315Cys) c.13654G>T (p.Gly4552Cys) c.13177G>T (p.Gly4393Cys) c.13201G>T (p.Gly4401Cys) c.13255G>T (p.Gly4419Cys) c.13147G>T (p.Gly4383Cys) c.13324G>T (p.Gly4442Cys) c.13312G>T (p.Gly4438Cys) c.13669G>T (p.Gly4557Cys) c.13270G>T (p.Gly4424Cys) c.13258G>T (p.Gly4420Cys) c.13216G>T (p.Gly4406Cys) c.13192G>T (p.Gly4398Cys) c.13162G>T (p.Gly4388Cys) c.13339G>T (p.Gly4447Cys) c.13189G>T (p.Gly4397Cys) c.9889G>T (p.Gly3297Cys) | gnomAD v4 COSMIC COSMIC COSMIC |
| 8 | g.143916578C= | CA1826037420 | PLEC | c.13375G= (p.Gly4459=) c.13294G= (p.Gly4432=) c.12961G= (p.Gly4321=) c.13174G= (p.Gly4392=) c.13243G= (p.Gly4415=) c.9943G= (p.Gly3315=) c.13654G= (p.Gly4552=) c.13177G= (p.Gly4393=) c.13201G= (p.Gly4401=) c.13255G= (p.Gly4419=) c.13147G= (p.Gly4383=) c.13324G= (p.Gly4442=) c.13312G= (p.Gly4438=) c.13669G= (p.Gly4557=) c.13270G= (p.Gly4424=) c.13258G= (p.Gly4420=) c.13216G= (p.Gly4406=) c.13192G= (p.Gly4398=) c.13162G= (p.Gly4388=) c.13339G= (p.Gly4447=) c.13189G= (p.Gly4397=) c.9889G= (p.Gly3297=) | |
| 8 | g.143916578C>G | CA372475852 | PLEC | c.13375G>C (p.Gly4459Arg) c.13294G>C (p.Gly4432Arg) c.12961G>C (p.Gly4321Arg) c.13174G>C (p.Gly4392Arg) c.13243G>C (p.Gly4415Arg) c.9943G>C (p.Gly3315Arg) c.13654G>C (p.Gly4552Arg) c.13177G>C (p.Gly4393Arg) c.13201G>C (p.Gly4401Arg) c.13255G>C (p.Gly4419Arg) c.13147G>C (p.Gly4383Arg) c.13324G>C (p.Gly4442Arg) c.13312G>C (p.Gly4438Arg) c.13669G>C (p.Gly4557Arg) c.13270G>C (p.Gly4424Arg) c.13258G>C (p.Gly4420Arg) c.13216G>C (p.Gly4406Arg) c.13192G>C (p.Gly4398Arg) c.13162G>C (p.Gly4388Arg) c.13339G>C (p.Gly4447Arg) c.13189G>C (p.Gly4397Arg) c.9889G>C (p.Gly3297Arg) | |
| 8 | g.143916578C>T | CA4923871 | PLEC | c.13375G>A (p.Gly4459Ser) c.13294G>A (p.Gly4432Ser) c.12961G>A (p.Gly4321Ser) c.13174G>A (p.Gly4392Ser) c.13243G>A (p.Gly4415Ser) c.9943G>A (p.Gly3315Ser) c.13654G>A (p.Gly4552Ser) c.13177G>A (p.Gly4393Ser) c.13201G>A (p.Gly4401Ser) c.13255G>A (p.Gly4419Ser) c.13147G>A (p.Gly4383Ser) c.13324G>A (p.Gly4442Ser) c.13312G>A (p.Gly4438Ser) c.13669G>A (p.Gly4557Ser) c.13270G>A (p.Gly4424Ser) c.13258G>A (p.Gly4420Ser) c.13216G>A (p.Gly4406Ser) c.13192G>A (p.Gly4398Ser) c.13162G>A (p.Gly4388Ser) c.13339G>A (p.Gly4447Ser) c.13189G>A (p.Gly4397Ser) c.9889G>A (p.Gly3297Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916579G>A | CA4923872 | PLEC | c.13374C>T (p.Arg4458=) c.13293C>T (p.Arg4431=) c.12960C>T (p.Arg4320=) c.13173C>T (p.Arg4391=) c.13242C>T (p.Arg4414=) c.9942C>T (p.Arg3314=) c.13653C>T (p.Arg4551=) c.13176C>T (p.Arg4392=) c.13200C>T (p.Arg4400=) c.13254C>T (p.Arg4418=) c.13146C>T (p.Arg4382=) c.13323C>T (p.Arg4441=) c.13311C>T (p.Arg4437=) c.13668C>T (p.Arg4556=) c.13269C>T (p.Arg4423=) c.13257C>T (p.Arg4419=) c.13215C>T (p.Arg4405=) c.13191C>T (p.Arg4397=) c.13161C>T (p.Arg4387=) c.13338C>T (p.Arg4446=) c.13188C>T (p.Arg4396=) c.9888C>T (p.Arg3296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143916579G>C | CA463525701 | PLEC | c.13374C>G (p.Arg4458=) c.13293C>G (p.Arg4431=) c.12960C>G (p.Arg4320=) c.13173C>G (p.Arg4391=) c.13242C>G (p.Arg4414=) c.9942C>G (p.Arg3314=) c.13653C>G (p.Arg4551=) c.13176C>G (p.Arg4392=) c.13200C>G (p.Arg4400=) c.13254C>G (p.Arg4418=) c.13146C>G (p.Arg4382=) c.13323C>G (p.Arg4441=) c.13311C>G (p.Arg4437=) c.13668C>G (p.Arg4556=) c.13269C>G (p.Arg4423=) c.13257C>G (p.Arg4419=) c.13215C>G (p.Arg4405=) c.13191C>G (p.Arg4397=) c.13161C>G (p.Arg4387=) c.13338C>G (p.Arg4446=) c.13188C>G (p.Arg4396=) c.9888C>G (p.Arg3296=) | |
| 8 | g.143916579G= | CA1826037424 | PLEC | c.13374C= (p.Arg4458=) c.13293C= (p.Arg4431=) c.12960C= (p.Arg4320=) c.13173C= (p.Arg4391=) c.13242C= (p.Arg4414=) c.9942C= (p.Arg3314=) c.13653C= (p.Arg4551=) c.13176C= (p.Arg4392=) c.13200C= (p.Arg4400=) c.13254C= (p.Arg4418=) c.13146C= (p.Arg4382=) c.13323C= (p.Arg4441=) c.13311C= (p.Arg4437=) c.13668C= (p.Arg4556=) c.13269C= (p.Arg4423=) c.13257C= (p.Arg4419=) c.13215C= (p.Arg4405=) c.13191C= (p.Arg4397=) c.13161C= (p.Arg4387=) c.13338C= (p.Arg4446=) c.13188C= (p.Arg4396=) c.9888C= (p.Arg3296=) | |
| 8 | g.143916579G>T | CA463525702 | PLEC | c.13374C>A (p.Arg4458=) c.13293C>A (p.Arg4431=) c.12960C>A (p.Arg4320=) c.13173C>A (p.Arg4391=) c.13242C>A (p.Arg4414=) c.9942C>A (p.Arg3314=) c.13653C>A (p.Arg4551=) c.13176C>A (p.Arg4392=) c.13200C>A (p.Arg4400=) c.13254C>A (p.Arg4418=) c.13146C>A (p.Arg4382=) c.13323C>A (p.Arg4441=) c.13311C>A (p.Arg4437=) c.13668C>A (p.Arg4556=) c.13269C>A (p.Arg4423=) c.13257C>A (p.Arg4419=) c.13215C>A (p.Arg4405=) c.13191C>A (p.Arg4397=) c.13161C>A (p.Arg4387=) c.13338C>A (p.Arg4446=) c.13188C>A (p.Arg4396=) c.9888C>A (p.Arg3296=) | |
| 8 | g.143916580C>A | CA372475854 | PLEC | c.13373G>T (p.Arg4458Leu) c.13292G>T (p.Arg4431Leu) c.12959G>T (p.Arg4320Leu) c.13172G>T (p.Arg4391Leu) c.13241G>T (p.Arg4414Leu) c.9941G>T (p.Arg3314Leu) c.13652G>T (p.Arg4551Leu) c.13175G>T (p.Arg4392Leu) c.13199G>T (p.Arg4400Leu) c.13253G>T (p.Arg4418Leu) c.13145G>T (p.Arg4382Leu) c.13322G>T (p.Arg4441Leu) c.13310G>T (p.Arg4437Leu) c.13667G>T (p.Arg4556Leu) c.13268G>T (p.Arg4423Leu) c.13256G>T (p.Arg4419Leu) c.13214G>T (p.Arg4405Leu) c.13190G>T (p.Arg4397Leu) c.13160G>T (p.Arg4387Leu) c.13337G>T (p.Arg4446Leu) c.13187G>T (p.Arg4396Leu) c.9887G>T (p.Arg3296Leu) | |
| 8 | g.143916580C= | CA1826037427 | PLEC | c.13373G= (p.Arg4458=) c.13292G= (p.Arg4431=) c.12959G= (p.Arg4320=) c.13172G= (p.Arg4391=) c.13241G= (p.Arg4414=) c.9941G= (p.Arg3314=) c.13652G= (p.Arg4551=) c.13175G= (p.Arg4392=) c.13199G= (p.Arg4400=) c.13253G= (p.Arg4418=) c.13145G= (p.Arg4382=) c.13322G= (p.Arg4441=) c.13310G= (p.Arg4437=) c.13667G= (p.Arg4556=) c.13268G= (p.Arg4423=) c.13256G= (p.Arg4419=) c.13214G= (p.Arg4405=) c.13190G= (p.Arg4397=) c.13160G= (p.Arg4387=) c.13337G= (p.Arg4446=) c.13187G= (p.Arg4396=) c.9887G= (p.Arg3296=) | |
| 8 | g.143916580C>G | CA372475856 | PLEC | c.13373G>C (p.Arg4458Pro) c.13292G>C (p.Arg4431Pro) c.12959G>C (p.Arg4320Pro) c.13172G>C (p.Arg4391Pro) c.13241G>C (p.Arg4414Pro) c.9941G>C (p.Arg3314Pro) c.13652G>C (p.Arg4551Pro) c.13175G>C (p.Arg4392Pro) c.13199G>C (p.Arg4400Pro) c.13253G>C (p.Arg4418Pro) c.13145G>C (p.Arg4382Pro) c.13322G>C (p.Arg4441Pro) c.13310G>C (p.Arg4437Pro) c.13667G>C (p.Arg4556Pro) c.13268G>C (p.Arg4423Pro) c.13256G>C (p.Arg4419Pro) c.13214G>C (p.Arg4405Pro) c.13190G>C (p.Arg4397Pro) c.13160G>C (p.Arg4387Pro) c.13337G>C (p.Arg4446Pro) c.13187G>C (p.Arg4396Pro) c.9887G>C (p.Arg3296Pro) | |
| 8 | g.143916580C>T | CA4923873 | PLEC | c.13373G>A (p.Arg4458His) c.13292G>A (p.Arg4431His) c.12959G>A (p.Arg4320His) c.13172G>A (p.Arg4391His) c.13241G>A (p.Arg4414His) c.9941G>A (p.Arg3314His) c.13652G>A (p.Arg4551His) c.13175G>A (p.Arg4392His) c.13199G>A (p.Arg4400His) c.13253G>A (p.Arg4418His) c.13145G>A (p.Arg4382His) c.13322G>A (p.Arg4441His) c.13310G>A (p.Arg4437His) c.13667G>A (p.Arg4556His) c.13268G>A (p.Arg4423His) c.13256G>A (p.Arg4419His) c.13214G>A (p.Arg4405His) c.13190G>A (p.Arg4397His) c.13160G>A (p.Arg4387His) c.13337G>A (p.Arg4446His) c.13187G>A (p.Arg4396His) c.9887G>A (p.Arg3296His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916581G>A | CA4923874 | PLEC | c.13372C>T (p.Arg4458Cys) c.13291C>T (p.Arg4431Cys) c.12958C>T (p.Arg4320Cys) c.13171C>T (p.Arg4391Cys) c.13240C>T (p.Arg4414Cys) c.9940C>T (p.Arg3314Cys) c.13651C>T (p.Arg4551Cys) c.13174C>T (p.Arg4392Cys) c.13198C>T (p.Arg4400Cys) c.13252C>T (p.Arg4418Cys) c.13144C>T (p.Arg4382Cys) c.13321C>T (p.Arg4441Cys) c.13309C>T (p.Arg4437Cys) c.13666C>T (p.Arg4556Cys) c.13267C>T (p.Arg4423Cys) c.13255C>T (p.Arg4419Cys) c.13213C>T (p.Arg4405Cys) c.13189C>T (p.Arg4397Cys) c.13159C>T (p.Arg4387Cys) c.13336C>T (p.Arg4446Cys) c.13186C>T (p.Arg4396Cys) c.9886C>T (p.Arg3296Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916581G>C | CA372475858 | PLEC | c.13372C>G (p.Arg4458Gly) c.13291C>G (p.Arg4431Gly) c.12958C>G (p.Arg4320Gly) c.13171C>G (p.Arg4391Gly) c.13240C>G (p.Arg4414Gly) c.9940C>G (p.Arg3314Gly) c.13651C>G (p.Arg4551Gly) c.13174C>G (p.Arg4392Gly) c.13198C>G (p.Arg4400Gly) c.13252C>G (p.Arg4418Gly) c.13144C>G (p.Arg4382Gly) c.13321C>G (p.Arg4441Gly) c.13309C>G (p.Arg4437Gly) c.13666C>G (p.Arg4556Gly) c.13267C>G (p.Arg4423Gly) c.13255C>G (p.Arg4419Gly) c.13213C>G (p.Arg4405Gly) c.13189C>G (p.Arg4397Gly) c.13159C>G (p.Arg4387Gly) c.13336C>G (p.Arg4446Gly) c.13186C>G (p.Arg4396Gly) c.9886C>G (p.Arg3296Gly) | |
| 8 | g.143916581G= | CA1826037431 | PLEC | c.13372C= (p.Arg4458=) c.13291C= (p.Arg4431=) c.12958C= (p.Arg4320=) c.13171C= (p.Arg4391=) c.13240C= (p.Arg4414=) c.9940C= (p.Arg3314=) c.13651C= (p.Arg4551=) c.13174C= (p.Arg4392=) c.13198C= (p.Arg4400=) c.13252C= (p.Arg4418=) c.13144C= (p.Arg4382=) c.13321C= (p.Arg4441=) c.13309C= (p.Arg4437=) c.13666C= (p.Arg4556=) c.13267C= (p.Arg4423=) c.13255C= (p.Arg4419=) c.13213C= (p.Arg4405=) c.13189C= (p.Arg4397=) c.13159C= (p.Arg4387=) c.13336C= (p.Arg4446=) c.13186C= (p.Arg4396=) c.9886C= (p.Arg3296=) | |
| 8 | g.143916581G>T | CA372475859 | PLEC | c.13372C>A (p.Arg4458Ser) c.13291C>A (p.Arg4431Ser) c.12958C>A (p.Arg4320Ser) c.13171C>A (p.Arg4391Ser) c.13240C>A (p.Arg4414Ser) c.9940C>A (p.Arg3314Ser) c.13651C>A (p.Arg4551Ser) c.13174C>A (p.Arg4392Ser) c.13198C>A (p.Arg4400Ser) c.13252C>A (p.Arg4418Ser) c.13144C>A (p.Arg4382Ser) c.13321C>A (p.Arg4441Ser) c.13309C>A (p.Arg4437Ser) c.13666C>A (p.Arg4556Ser) c.13267C>A (p.Arg4423Ser) c.13255C>A (p.Arg4419Ser) c.13213C>A (p.Arg4405Ser) c.13189C>A (p.Arg4397Ser) c.13159C>A (p.Arg4387Ser) c.13336C>A (p.Arg4446Ser) c.13186C>A (p.Arg4396Ser) c.9886C>A (p.Arg3296Ser) | |
| 8 | g.143916584_143916625del | CA2689011288 | PLEC | c.13331_13372del (p.Pro4444_Gln4457del) c.13250_13291del (p.Pro4417_Gln4430del) c.12917_12958del (p.Pro4306_Gln4319del) c.13130_13171del (p.Pro4377_Gln4390del) c.13199_13240del (p.Pro4400_Gln4413del) c.9899_9940del (p.Pro3300_Gln3313del) c.13610_13651del (p.Pro4537_Gln4550del) c.13133_13174del (p.Pro4378_Gln4391del) c.13157_13198del (p.Pro4386_Gln4399del) c.13211_13252del (p.Pro4404_Gln4417del) c.13103_13144del (p.Pro4368_Gln4381del) c.13280_13321del (p.Pro4427_Gln4440del) c.13268_13309del (p.Pro4423_Gln4436del) c.13625_13666del (p.Pro4542_Gln4555del) c.13226_13267del (p.Pro4409_Gln4422del) c.13214_13255del (p.Pro4405_Gln4418del) c.13172_13213del (p.Pro4391_Gln4404del) c.13148_13189del (p.Pro4383_Gln4396del) c.13118_13159del (p.Pro4373_Gln4386del) c.13295_13336del (p.Pro4432_Gln4445del) c.13145_13186del (p.Pro4382_Gln4395del) c.9845_9886del (p.Pro3282_Gln3295del) | gnomAD v4 |
| 8 | g.143916582C>A | CA372475861 | PLEC | c.13371G>T (p.Gln4457His) c.13290G>T (p.Gln4430His) c.12957G>T (p.Gln4319His) c.13170G>T (p.Gln4390His) c.13239G>T (p.Gln4413His) c.9939G>T (p.Gln3313His) c.13650G>T (p.Gln4550His) c.13173G>T (p.Gln4391His) c.13197G>T (p.Gln4399His) c.13251G>T (p.Gln4417His) c.13143G>T (p.Gln4381His) c.13320G>T (p.Gln4440His) c.13308G>T (p.Gln4436His) c.13665G>T (p.Gln4555His) c.13266G>T (p.Gln4422His) c.13254G>T (p.Gln4418His) c.13212G>T (p.Gln4404His) c.13188G>T (p.Gln4396His) c.13158G>T (p.Gln4386His) c.13335G>T (p.Gln4445His) c.13185G>T (p.Gln4395His) c.9885G>T (p.Gln3295His) | |
| 8 | g.143916582C>G | CA372475863 | PLEC | c.13371G>C (p.Gln4457His) c.13290G>C (p.Gln4430His) c.12957G>C (p.Gln4319His) c.13170G>C (p.Gln4390His) c.13239G>C (p.Gln4413His) c.9939G>C (p.Gln3313His) c.13650G>C (p.Gln4550His) c.13173G>C (p.Gln4391His) c.13197G>C (p.Gln4399His) c.13251G>C (p.Gln4417His) c.13143G>C (p.Gln4381His) c.13320G>C (p.Gln4440His) c.13308G>C (p.Gln4436His) c.13665G>C (p.Gln4555His) c.13266G>C (p.Gln4422His) c.13254G>C (p.Gln4418His) c.13212G>C (p.Gln4404His) c.13188G>C (p.Gln4396His) c.13158G>C (p.Gln4386His) c.13335G>C (p.Gln4445His) c.13185G>C (p.Gln4395His) c.9885G>C (p.Gln3295His) | |
| 8 | g.143916582C>T | CA463525703 | PLEC | c.13371G>A (p.Gln4457=) c.13290G>A (p.Gln4430=) c.12957G>A (p.Gln4319=) c.13170G>A (p.Gln4390=) c.13239G>A (p.Gln4413=) c.9939G>A (p.Gln3313=) c.13650G>A (p.Gln4550=) c.13173G>A (p.Gln4391=) c.13197G>A (p.Gln4399=) c.13251G>A (p.Gln4417=) c.13143G>A (p.Gln4381=) c.13320G>A (p.Gln4440=) c.13308G>A (p.Gln4436=) c.13665G>A (p.Gln4555=) c.13266G>A (p.Gln4422=) c.13254G>A (p.Gln4418=) c.13212G>A (p.Gln4404=) c.13188G>A (p.Gln4396=) c.13158G>A (p.Gln4386=) c.13335G>A (p.Gln4445=) c.13185G>A (p.Gln4395=) c.9885G>A (p.Gln3295=) | gnomAD v4 |
| 8 | g.143916583T>A | CA372475865 | PLEC | c.13370A>T (p.Gln4457Leu) c.13289A>T (p.Gln4430Leu) c.12956A>T (p.Gln4319Leu) c.13169A>T (p.Gln4390Leu) c.13238A>T (p.Gln4413Leu) c.9938A>T (p.Gln3313Leu) c.13649A>T (p.Gln4550Leu) c.13172A>T (p.Gln4391Leu) c.13196A>T (p.Gln4399Leu) c.13250A>T (p.Gln4417Leu) c.13142A>T (p.Gln4381Leu) c.13319A>T (p.Gln4440Leu) c.13307A>T (p.Gln4436Leu) c.13664A>T (p.Gln4555Leu) c.13265A>T (p.Gln4422Leu) c.13253A>T (p.Gln4418Leu) c.13211A>T (p.Gln4404Leu) c.13187A>T (p.Gln4396Leu) c.13157A>T (p.Gln4386Leu) c.13334A>T (p.Gln4445Leu) c.13184A>T (p.Gln4395Leu) c.9884A>T (p.Gln3295Leu) | |
| 8 | g.143916583T>C | CA372475870 | PLEC | c.13370A>G (p.Gln4457Arg) c.13289A>G (p.Gln4430Arg) c.12956A>G (p.Gln4319Arg) c.13169A>G (p.Gln4390Arg) c.13238A>G (p.Gln4413Arg) c.9938A>G (p.Gln3313Arg) c.13649A>G (p.Gln4550Arg) c.13172A>G (p.Gln4391Arg) c.13196A>G (p.Gln4399Arg) c.13250A>G (p.Gln4417Arg) c.13142A>G (p.Gln4381Arg) c.13319A>G (p.Gln4440Arg) c.13307A>G (p.Gln4436Arg) c.13664A>G (p.Gln4555Arg) c.13265A>G (p.Gln4422Arg) c.13253A>G (p.Gln4418Arg) c.13211A>G (p.Gln4404Arg) c.13187A>G (p.Gln4396Arg) c.13157A>G (p.Gln4386Arg) c.13334A>G (p.Gln4445Arg) c.13184A>G (p.Gln4395Arg) c.9884A>G (p.Gln3295Arg) | |
| 8 | g.143916583T>G | CA372475864 | PLEC | c.13370A>C (p.Gln4457Pro) c.13289A>C (p.Gln4430Pro) c.12956A>C (p.Gln4319Pro) c.13169A>C (p.Gln4390Pro) c.13238A>C (p.Gln4413Pro) c.9938A>C (p.Gln3313Pro) c.13649A>C (p.Gln4550Pro) c.13172A>C (p.Gln4391Pro) c.13196A>C (p.Gln4399Pro) c.13250A>C (p.Gln4417Pro) c.13142A>C (p.Gln4381Pro) c.13319A>C (p.Gln4440Pro) c.13307A>C (p.Gln4436Pro) c.13664A>C (p.Gln4555Pro) c.13265A>C (p.Gln4422Pro) c.13253A>C (p.Gln4418Pro) c.13211A>C (p.Gln4404Pro) c.13187A>C (p.Gln4396Pro) c.13157A>C (p.Gln4386Pro) c.13334A>C (p.Gln4445Pro) c.13184A>C (p.Gln4395Pro) c.9884A>C (p.Gln3295Pro) | |
| 8 | g.143916584G>A | CA372475873 | PLEC | c.13369C>T (p.Gln4457Ter) c.13288C>T (p.Gln4430Ter) c.12955C>T (p.Gln4319Ter) c.13168C>T (p.Gln4390Ter) c.13237C>T (p.Gln4413Ter) c.9937C>T (p.Gln3313Ter) c.13648C>T (p.Gln4550Ter) c.13171C>T (p.Gln4391Ter) c.13195C>T (p.Gln4399Ter) c.13249C>T (p.Gln4417Ter) c.13141C>T (p.Gln4381Ter) c.13318C>T (p.Gln4440Ter) c.13306C>T (p.Gln4436Ter) c.13663C>T (p.Gln4555Ter) c.13264C>T (p.Gln4422Ter) c.13252C>T (p.Gln4418Ter) c.13210C>T (p.Gln4404Ter) c.13186C>T (p.Gln4396Ter) c.13156C>T (p.Gln4386Ter) c.13333C>T (p.Gln4445Ter) c.13183C>T (p.Gln4395Ter) c.9883C>T (p.Gln3295Ter) | |
| 8 | g.143916584G>C | CA372475877 | PLEC | c.13369C>G (p.Gln4457Glu) c.13288C>G (p.Gln4430Glu) c.12955C>G (p.Gln4319Glu) c.13168C>G (p.Gln4390Glu) c.13237C>G (p.Gln4413Glu) c.9937C>G (p.Gln3313Glu) c.13648C>G (p.Gln4550Glu) c.13171C>G (p.Gln4391Glu) c.13195C>G (p.Gln4399Glu) c.13249C>G (p.Gln4417Glu) c.13141C>G (p.Gln4381Glu) c.13318C>G (p.Gln4440Glu) c.13306C>G (p.Gln4436Glu) c.13663C>G (p.Gln4555Glu) c.13264C>G (p.Gln4422Glu) c.13252C>G (p.Gln4418Glu) c.13210C>G (p.Gln4404Glu) c.13186C>G (p.Gln4396Glu) c.13156C>G (p.Gln4386Glu) c.13333C>G (p.Gln4445Glu) c.13183C>G (p.Gln4395Glu) c.9883C>G (p.Gln3295Glu) | |
| 8 | g.143916584G>T | CA372475875 | PLEC | c.13369C>A (p.Gln4457Lys) c.13288C>A (p.Gln4430Lys) c.12955C>A (p.Gln4319Lys) c.13168C>A (p.Gln4390Lys) c.13237C>A (p.Gln4413Lys) c.9937C>A (p.Gln3313Lys) c.13648C>A (p.Gln4550Lys) c.13171C>A (p.Gln4391Lys) c.13195C>A (p.Gln4399Lys) c.13249C>A (p.Gln4417Lys) c.13141C>A (p.Gln4381Lys) c.13318C>A (p.Gln4440Lys) c.13306C>A (p.Gln4436Lys) c.13663C>A (p.Gln4555Lys) c.13264C>A (p.Gln4422Lys) c.13252C>A (p.Gln4418Lys) c.13210C>A (p.Gln4404Lys) c.13186C>A (p.Gln4396Lys) c.13156C>A (p.Gln4386Lys) c.13333C>A (p.Gln4445Lys) c.13183C>A (p.Gln4395Lys) c.9883C>A (p.Gln3295Lys) | |
| 8 | g.143916585C>A | CA463525706 | PLEC | c.13368G>T (p.Leu4456=) c.13287G>T (p.Leu4429=) c.12954G>T (p.Leu4318=) c.13167G>T (p.Leu4389=) c.13236G>T (p.Leu4412=) c.9936G>T (p.Leu3312=) c.13647G>T (p.Leu4549=) c.13170G>T (p.Leu4390=) c.13194G>T (p.Leu4398=) c.13248G>T (p.Leu4416=) c.13140G>T (p.Leu4380=) c.13317G>T (p.Leu4439=) c.13305G>T (p.Leu4435=) c.13662G>T (p.Leu4554=) c.13263G>T (p.Leu4421=) c.13251G>T (p.Leu4417=) c.13209G>T (p.Leu4403=) c.13185G>T (p.Leu4395=) c.13155G>T (p.Leu4385=) c.13332G>T (p.Leu4444=) c.13182G>T (p.Leu4394=) c.9882G>T (p.Leu3294=) | |
| 8 | g.143916585C>G | CA463525704 | PLEC | c.13368G>C (p.Leu4456=) c.13287G>C (p.Leu4429=) c.12954G>C (p.Leu4318=) c.13167G>C (p.Leu4389=) c.13236G>C (p.Leu4412=) c.9936G>C (p.Leu3312=) c.13647G>C (p.Leu4549=) c.13170G>C (p.Leu4390=) c.13194G>C (p.Leu4398=) c.13248G>C (p.Leu4416=) c.13140G>C (p.Leu4380=) c.13317G>C (p.Leu4439=) c.13305G>C (p.Leu4435=) c.13662G>C (p.Leu4554=) c.13263G>C (p.Leu4421=) c.13251G>C (p.Leu4417=) c.13209G>C (p.Leu4403=) c.13185G>C (p.Leu4395=) c.13155G>C (p.Leu4385=) c.13332G>C (p.Leu4444=) c.13182G>C (p.Leu4394=) c.9882G>C (p.Leu3294=) | |
| 8 | g.143916585C>T | CA463525705 | PLEC | c.13368G>A (p.Leu4456=) c.13287G>A (p.Leu4429=) c.12954G>A (p.Leu4318=) c.13167G>A (p.Leu4389=) c.13236G>A (p.Leu4412=) c.9936G>A (p.Leu3312=) c.13647G>A (p.Leu4549=) c.13170G>A (p.Leu4390=) c.13194G>A (p.Leu4398=) c.13248G>A (p.Leu4416=) c.13140G>A (p.Leu4380=) c.13317G>A (p.Leu4439=) c.13305G>A (p.Leu4435=) c.13662G>A (p.Leu4554=) c.13263G>A (p.Leu4421=) c.13251G>A (p.Leu4417=) c.13209G>A (p.Leu4403=) c.13185G>A (p.Leu4395=) c.13155G>A (p.Leu4385=) c.13332G>A (p.Leu4444=) c.13182G>A (p.Leu4394=) c.9882G>A (p.Leu3294=) | |
| 8 | g.143916586A>C | CA372475879 | PLEC | c.13367T>G (p.Leu4456Arg) c.13286T>G (p.Leu4429Arg) c.12953T>G (p.Leu4318Arg) c.13166T>G (p.Leu4389Arg) c.13235T>G (p.Leu4412Arg) c.9935T>G (p.Leu3312Arg) c.13646T>G (p.Leu4549Arg) c.13169T>G (p.Leu4390Arg) c.13193T>G (p.Leu4398Arg) c.13247T>G (p.Leu4416Arg) c.13139T>G (p.Leu4380Arg) c.13316T>G (p.Leu4439Arg) c.13304T>G (p.Leu4435Arg) c.13661T>G (p.Leu4554Arg) c.13262T>G (p.Leu4421Arg) c.13250T>G (p.Leu4417Arg) c.13208T>G (p.Leu4403Arg) c.13184T>G (p.Leu4395Arg) c.13154T>G (p.Leu4385Arg) c.13331T>G (p.Leu4444Arg) c.13181T>G (p.Leu4394Arg) c.9881T>G (p.Leu3294Arg) | |
| 8 | g.143916586A>G | CA372475880 | PLEC | c.13367T>C (p.Leu4456Pro) c.13286T>C (p.Leu4429Pro) c.12953T>C (p.Leu4318Pro) c.13166T>C (p.Leu4389Pro) c.13235T>C (p.Leu4412Pro) c.9935T>C (p.Leu3312Pro) c.13646T>C (p.Leu4549Pro) c.13169T>C (p.Leu4390Pro) c.13193T>C (p.Leu4398Pro) c.13247T>C (p.Leu4416Pro) c.13139T>C (p.Leu4380Pro) c.13316T>C (p.Leu4439Pro) c.13304T>C (p.Leu4435Pro) c.13661T>C (p.Leu4554Pro) c.13262T>C (p.Leu4421Pro) c.13250T>C (p.Leu4417Pro) c.13208T>C (p.Leu4403Pro) c.13184T>C (p.Leu4395Pro) c.13154T>C (p.Leu4385Pro) c.13331T>C (p.Leu4444Pro) c.13181T>C (p.Leu4394Pro) c.9881T>C (p.Leu3294Pro) | |
| 8 | g.143916586A>T | CA372475882 | PLEC | c.13367T>A (p.Leu4456Gln) c.13286T>A (p.Leu4429Gln) c.12953T>A (p.Leu4318Gln) c.13166T>A (p.Leu4389Gln) c.13235T>A (p.Leu4412Gln) c.9935T>A (p.Leu3312Gln) c.13646T>A (p.Leu4549Gln) c.13169T>A (p.Leu4390Gln) c.13193T>A (p.Leu4398Gln) c.13247T>A (p.Leu4416Gln) c.13139T>A (p.Leu4380Gln) c.13316T>A (p.Leu4439Gln) c.13304T>A (p.Leu4435Gln) c.13661T>A (p.Leu4554Gln) c.13262T>A (p.Leu4421Gln) c.13250T>A (p.Leu4417Gln) c.13208T>A (p.Leu4403Gln) c.13184T>A (p.Leu4395Gln) c.13154T>A (p.Leu4385Gln) c.13331T>A (p.Leu4444Gln) c.13181T>A (p.Leu4394Gln) c.9881T>A (p.Leu3294Gln) | |
| 8 | g.143916587G>A | CA463525707 | PLEC | c.13366C>T (p.Leu4456=) c.13285C>T (p.Leu4429=) c.12952C>T (p.Leu4318=) c.13165C>T (p.Leu4389=) c.13234C>T (p.Leu4412=) c.9934C>T (p.Leu3312=) c.13645C>T (p.Leu4549=) c.13168C>T (p.Leu4390=) c.13192C>T (p.Leu4398=) c.13246C>T (p.Leu4416=) c.13138C>T (p.Leu4380=) c.13315C>T (p.Leu4439=) c.13303C>T (p.Leu4435=) c.13660C>T (p.Leu4554=) c.13261C>T (p.Leu4421=) c.13249C>T (p.Leu4417=) c.13207C>T (p.Leu4403=) c.13183C>T (p.Leu4395=) c.13153C>T (p.Leu4385=) c.13330C>T (p.Leu4444=) c.13180C>T (p.Leu4394=) c.9880C>T (p.Leu3294=) | gnomAD v4 |
| 8 | g.143916587G>C | CA372475884 | PLEC | c.13366C>G (p.Leu4456Val) c.13285C>G (p.Leu4429Val) c.12952C>G (p.Leu4318Val) c.13165C>G (p.Leu4389Val) c.13234C>G (p.Leu4412Val) c.9934C>G (p.Leu3312Val) c.13645C>G (p.Leu4549Val) c.13168C>G (p.Leu4390Val) c.13192C>G (p.Leu4398Val) c.13246C>G (p.Leu4416Val) c.13138C>G (p.Leu4380Val) c.13315C>G (p.Leu4439Val) c.13303C>G (p.Leu4435Val) c.13660C>G (p.Leu4554Val) c.13261C>G (p.Leu4421Val) c.13249C>G (p.Leu4417Val) c.13207C>G (p.Leu4403Val) c.13183C>G (p.Leu4395Val) c.13153C>G (p.Leu4385Val) c.13330C>G (p.Leu4444Val) c.13180C>G (p.Leu4394Val) c.9880C>G (p.Leu3294Val) | |
| 8 | g.143916587G>T | CA372475885 | PLEC | c.13366C>A (p.Leu4456Met) c.13285C>A (p.Leu4429Met) c.12952C>A (p.Leu4318Met) c.13165C>A (p.Leu4389Met) c.13234C>A (p.Leu4412Met) c.9934C>A (p.Leu3312Met) c.13645C>A (p.Leu4549Met) c.13168C>A (p.Leu4390Met) c.13192C>A (p.Leu4398Met) c.13246C>A (p.Leu4416Met) c.13138C>A (p.Leu4380Met) c.13315C>A (p.Leu4439Met) c.13303C>A (p.Leu4435Met) c.13660C>A (p.Leu4554Met) c.13261C>A (p.Leu4421Met) c.13249C>A (p.Leu4417Met) c.13207C>A (p.Leu4403Met) c.13183C>A (p.Leu4395Met) c.13153C>A (p.Leu4385Met) c.13330C>A (p.Leu4444Met) c.13180C>A (p.Leu4394Met) c.9880C>A (p.Leu3294Met) | gnomAD v4 |
| 8 | g.143916588G>A | CA463525708 | PLEC | c.13365C>T (p.Ala4455=) c.13284C>T (p.Ala4428=) c.12951C>T (p.Ala4317=) c.13164C>T (p.Ala4388=) c.13233C>T (p.Ala4411=) c.9933C>T (p.Ala3311=) c.13644C>T (p.Ala4548=) c.13167C>T (p.Ala4389=) c.13191C>T (p.Ala4397=) c.13245C>T (p.Ala4415=) c.13137C>T (p.Ala4379=) c.13314C>T (p.Ala4438=) c.13302C>T (p.Ala4434=) c.13659C>T (p.Ala4553=) c.13260C>T (p.Ala4420=) c.13248C>T (p.Ala4416=) c.13206C>T (p.Ala4402=) c.13182C>T (p.Ala4394=) c.13152C>T (p.Ala4384=) c.13329C>T (p.Ala4443=) c.13179C>T (p.Ala4393=) c.9879C>T (p.Ala3293=) | |
| 8 | g.143916588G>C | CA463525709 | PLEC | c.13365C>G (p.Ala4455=) c.13284C>G (p.Ala4428=) c.12951C>G (p.Ala4317=) c.13164C>G (p.Ala4388=) c.13233C>G (p.Ala4411=) c.9933C>G (p.Ala3311=) c.13644C>G (p.Ala4548=) c.13167C>G (p.Ala4389=) c.13191C>G (p.Ala4397=) c.13245C>G (p.Ala4415=) c.13137C>G (p.Ala4379=) c.13314C>G (p.Ala4438=) c.13302C>G (p.Ala4434=) c.13659C>G (p.Ala4553=) c.13260C>G (p.Ala4420=) c.13248C>G (p.Ala4416=) c.13206C>G (p.Ala4402=) c.13182C>G (p.Ala4394=) c.13152C>G (p.Ala4384=) c.13329C>G (p.Ala4443=) c.13179C>G (p.Ala4393=) c.9879C>G (p.Ala3293=) | gnomAD v4 |
| 8 | g.143916588G>T | CA463525710 | PLEC | c.13365C>A (p.Ala4455=) c.13284C>A (p.Ala4428=) c.12951C>A (p.Ala4317=) c.13164C>A (p.Ala4388=) c.13233C>A (p.Ala4411=) c.9933C>A (p.Ala3311=) c.13644C>A (p.Ala4548=) c.13167C>A (p.Ala4389=) c.13191C>A (p.Ala4397=) c.13245C>A (p.Ala4415=) c.13137C>A (p.Ala4379=) c.13314C>A (p.Ala4438=) c.13302C>A (p.Ala4434=) c.13659C>A (p.Ala4553=) c.13260C>A (p.Ala4420=) c.13248C>A (p.Ala4416=) c.13206C>A (p.Ala4402=) c.13182C>A (p.Ala4394=) c.13152C>A (p.Ala4384=) c.13329C>A (p.Ala4443=) c.13179C>A (p.Ala4393=) c.9879C>A (p.Ala3293=) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143916589G>A | CA372475887 | PLEC | c.13364C>T (p.Ala4455Val) c.13283C>T (p.Ala4428Val) c.12950C>T (p.Ala4317Val) c.13163C>T (p.Ala4388Val) c.13232C>T (p.Ala4411Val) c.9932C>T (p.Ala3311Val) c.13643C>T (p.Ala4548Val) c.13166C>T (p.Ala4389Val) c.13190C>T (p.Ala4397Val) c.13244C>T (p.Ala4415Val) c.13136C>T (p.Ala4379Val) c.13313C>T (p.Ala4438Val) c.13301C>T (p.Ala4434Val) c.13658C>T (p.Ala4553Val) c.13259C>T (p.Ala4420Val) c.13247C>T (p.Ala4416Val) c.13205C>T (p.Ala4402Val) c.13181C>T (p.Ala4394Val) c.13151C>T (p.Ala4384Val) c.13328C>T (p.Ala4443Val) c.13178C>T (p.Ala4393Val) c.9878C>T (p.Ala3293Val) | ClinVar dbSNP |
| 8 | g.143916589G>C | CA372475889 | PLEC | c.13364C>G (p.Ala4455Gly) c.13283C>G (p.Ala4428Gly) c.12950C>G (p.Ala4317Gly) c.13163C>G (p.Ala4388Gly) c.13232C>G (p.Ala4411Gly) c.9932C>G (p.Ala3311Gly) c.13643C>G (p.Ala4548Gly) c.13166C>G (p.Ala4389Gly) c.13190C>G (p.Ala4397Gly) c.13244C>G (p.Ala4415Gly) c.13136C>G (p.Ala4379Gly) c.13313C>G (p.Ala4438Gly) c.13301C>G (p.Ala4434Gly) c.13658C>G (p.Ala4553Gly) c.13259C>G (p.Ala4420Gly) c.13247C>G (p.Ala4416Gly) c.13205C>G (p.Ala4402Gly) c.13181C>G (p.Ala4394Gly) c.13151C>G (p.Ala4384Gly) c.13328C>G (p.Ala4443Gly) c.13178C>G (p.Ala4393Gly) c.9878C>G (p.Ala3293Gly) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143916589G= | CA1826037434 | PLEC | c.13364C= (p.Ala4455=) c.13283C= (p.Ala4428=) c.12950C= (p.Ala4317=) c.13163C= (p.Ala4388=) c.13232C= (p.Ala4411=) c.9932C= (p.Ala3311=) c.13643C= (p.Ala4548=) c.13166C= (p.Ala4389=) c.13190C= (p.Ala4397=) c.13244C= (p.Ala4415=) c.13136C= (p.Ala4379=) c.13313C= (p.Ala4438=) c.13301C= (p.Ala4434=) c.13658C= (p.Ala4553=) c.13259C= (p.Ala4420=) c.13247C= (p.Ala4416=) c.13205C= (p.Ala4402=) c.13181C= (p.Ala4394=) c.13151C= (p.Ala4384=) c.13328C= (p.Ala4443=) c.13178C= (p.Ala4393=) c.9878C= (p.Ala3293=) | |
| 8 | g.143916589G>T | CA372475891 | PLEC | c.13364C>A (p.Ala4455Asp) c.13283C>A (p.Ala4428Asp) c.12950C>A (p.Ala4317Asp) c.13163C>A (p.Ala4388Asp) c.13232C>A (p.Ala4411Asp) c.9932C>A (p.Ala3311Asp) c.13643C>A (p.Ala4548Asp) c.13166C>A (p.Ala4389Asp) c.13190C>A (p.Ala4397Asp) c.13244C>A (p.Ala4415Asp) c.13136C>A (p.Ala4379Asp) c.13313C>A (p.Ala4438Asp) c.13301C>A (p.Ala4434Asp) c.13658C>A (p.Ala4553Asp) c.13259C>A (p.Ala4420Asp) c.13247C>A (p.Ala4416Asp) c.13205C>A (p.Ala4402Asp) c.13181C>A (p.Ala4394Asp) c.13151C>A (p.Ala4384Asp) c.13328C>A (p.Ala4443Asp) c.13178C>A (p.Ala4393Asp) c.9878C>A (p.Ala3293Asp) | gnomAD v4 |
| 8 | g.143916590C>A | CA372475892 | PLEC | c.13363G>T (p.Ala4455Ser) c.13282G>T (p.Ala4428Ser) c.12949G>T (p.Ala4317Ser) c.13162G>T (p.Ala4388Ser) c.13231G>T (p.Ala4411Ser) c.9931G>T (p.Ala3311Ser) c.13642G>T (p.Ala4548Ser) c.13165G>T (p.Ala4389Ser) c.13189G>T (p.Ala4397Ser) c.13243G>T (p.Ala4415Ser) c.13135G>T (p.Ala4379Ser) c.13312G>T (p.Ala4438Ser) c.13300G>T (p.Ala4434Ser) c.13657G>T (p.Ala4553Ser) c.13258G>T (p.Ala4420Ser) c.13246G>T (p.Ala4416Ser) c.13204G>T (p.Ala4402Ser) c.13180G>T (p.Ala4394Ser) c.13150G>T (p.Ala4384Ser) c.13327G>T (p.Ala4443Ser) c.13177G>T (p.Ala4393Ser) c.9877G>T (p.Ala3293Ser) | |
| 8 | g.143916590C>G | CA372475894 | PLEC | c.13363G>C (p.Ala4455Pro) c.13282G>C (p.Ala4428Pro) c.12949G>C (p.Ala4317Pro) c.13162G>C (p.Ala4388Pro) c.13231G>C (p.Ala4411Pro) c.9931G>C (p.Ala3311Pro) c.13642G>C (p.Ala4548Pro) c.13165G>C (p.Ala4389Pro) c.13189G>C (p.Ala4397Pro) c.13243G>C (p.Ala4415Pro) c.13135G>C (p.Ala4379Pro) c.13312G>C (p.Ala4438Pro) c.13300G>C (p.Ala4434Pro) c.13657G>C (p.Ala4553Pro) c.13258G>C (p.Ala4420Pro) c.13246G>C (p.Ala4416Pro) c.13204G>C (p.Ala4402Pro) c.13180G>C (p.Ala4394Pro) c.13150G>C (p.Ala4384Pro) c.13327G>C (p.Ala4443Pro) c.13177G>C (p.Ala4393Pro) c.9877G>C (p.Ala3293Pro) | |
| 8 | g.143916590C>T | CA372475895 | PLEC | c.13363G>A (p.Ala4455Thr) c.13282G>A (p.Ala4428Thr) c.12949G>A (p.Ala4317Thr) c.13162G>A (p.Ala4388Thr) c.13231G>A (p.Ala4411Thr) c.9931G>A (p.Ala3311Thr) c.13642G>A (p.Ala4548Thr) c.13165G>A (p.Ala4389Thr) c.13189G>A (p.Ala4397Thr) c.13243G>A (p.Ala4415Thr) c.13135G>A (p.Ala4379Thr) c.13312G>A (p.Ala4438Thr) c.13300G>A (p.Ala4434Thr) c.13657G>A (p.Ala4553Thr) c.13258G>A (p.Ala4420Thr) c.13246G>A (p.Ala4416Thr) c.13204G>A (p.Ala4402Thr) c.13180G>A (p.Ala4394Thr) c.13150G>A (p.Ala4384Thr) c.13327G>A (p.Ala4443Thr) c.13177G>A (p.Ala4393Thr) c.9877G>A (p.Ala3293Thr) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143916591C>A | CA372475897 | PLEC | c.13362G>T (p.Glu4454Asp) c.13281G>T (p.Glu4427Asp) c.12948G>T (p.Glu4316Asp) c.13161G>T (p.Glu4387Asp) c.13230G>T (p.Glu4410Asp) c.9930G>T (p.Glu3310Asp) c.13641G>T (p.Glu4547Asp) c.13164G>T (p.Glu4388Asp) c.13188G>T (p.Glu4396Asp) c.13242G>T (p.Glu4414Asp) c.13134G>T (p.Glu4378Asp) c.13311G>T (p.Glu4437Asp) c.13299G>T (p.Glu4433Asp) c.13656G>T (p.Glu4552Asp) c.13257G>T (p.Glu4419Asp) c.13245G>T (p.Glu4415Asp) c.13203G>T (p.Glu4401Asp) c.13179G>T (p.Glu4393Asp) c.13149G>T (p.Glu4383Asp) c.13326G>T (p.Glu4442Asp) c.13176G>T (p.Glu4392Asp) c.9876G>T (p.Glu3292Asp) | |
| 8 | g.143916591C>G | CA372475899 | PLEC | c.13362G>C (p.Glu4454Asp) c.13281G>C (p.Glu4427Asp) c.12948G>C (p.Glu4316Asp) c.13161G>C (p.Glu4387Asp) c.13230G>C (p.Glu4410Asp) c.9930G>C (p.Glu3310Asp) c.13641G>C (p.Glu4547Asp) c.13164G>C (p.Glu4388Asp) c.13188G>C (p.Glu4396Asp) c.13242G>C (p.Glu4414Asp) c.13134G>C (p.Glu4378Asp) c.13311G>C (p.Glu4437Asp) c.13299G>C (p.Glu4433Asp) c.13656G>C (p.Glu4552Asp) c.13257G>C (p.Glu4419Asp) c.13245G>C (p.Glu4415Asp) c.13203G>C (p.Glu4401Asp) c.13179G>C (p.Glu4393Asp) c.13149G>C (p.Glu4383Asp) c.13326G>C (p.Glu4442Asp) c.13176G>C (p.Glu4392Asp) c.9876G>C (p.Glu3292Asp) | |
| 8 | g.143916591C>T | CA463525711 | PLEC | c.13362G>A (p.Glu4454=) c.13281G>A (p.Glu4427=) c.12948G>A (p.Glu4316=) c.13161G>A (p.Glu4387=) c.13230G>A (p.Glu4410=) c.9930G>A (p.Glu3310=) c.13641G>A (p.Glu4547=) c.13164G>A (p.Glu4388=) c.13188G>A (p.Glu4396=) c.13242G>A (p.Glu4414=) c.13134G>A (p.Glu4378=) c.13311G>A (p.Glu4437=) c.13299G>A (p.Glu4433=) c.13656G>A (p.Glu4552=) c.13257G>A (p.Glu4419=) c.13245G>A (p.Glu4415=) c.13203G>A (p.Glu4401=) c.13179G>A (p.Glu4393=) c.13149G>A (p.Glu4383=) c.13326G>A (p.Glu4442=) c.13176G>A (p.Glu4392=) c.9876G>A (p.Glu3292=) | |
| 8 | g.143916592T>A | CA372475901 | PLEC | c.13361A>T (p.Glu4454Val) c.13280A>T (p.Glu4427Val) c.12947A>T (p.Glu4316Val) c.13160A>T (p.Glu4387Val) c.13229A>T (p.Glu4410Val) c.9929A>T (p.Glu3310Val) c.13640A>T (p.Glu4547Val) c.13163A>T (p.Glu4388Val) c.13187A>T (p.Glu4396Val) c.13241A>T (p.Glu4414Val) c.13133A>T (p.Glu4378Val) c.13310A>T (p.Glu4437Val) c.13298A>T (p.Glu4433Val) c.13655A>T (p.Glu4552Val) c.13256A>T (p.Glu4419Val) c.13244A>T (p.Glu4415Val) c.13202A>T (p.Glu4401Val) c.13178A>T (p.Glu4393Val) c.13148A>T (p.Glu4383Val) c.13325A>T (p.Glu4442Val) c.13175A>T (p.Glu4392Val) c.9875A>T (p.Glu3292Val) | |
| 8 | g.143916592T>C | CA372475905 | PLEC | c.13361A>G (p.Glu4454Gly) c.13280A>G (p.Glu4427Gly) c.12947A>G (p.Glu4316Gly) c.13160A>G (p.Glu4387Gly) c.13229A>G (p.Glu4410Gly) c.9929A>G (p.Glu3310Gly) c.13640A>G (p.Glu4547Gly) c.13163A>G (p.Glu4388Gly) c.13187A>G (p.Glu4396Gly) c.13241A>G (p.Glu4414Gly) c.13133A>G (p.Glu4378Gly) c.13310A>G (p.Glu4437Gly) c.13298A>G (p.Glu4433Gly) c.13655A>G (p.Glu4552Gly) c.13256A>G (p.Glu4419Gly) c.13244A>G (p.Glu4415Gly) c.13202A>G (p.Glu4401Gly) c.13178A>G (p.Glu4393Gly) c.13148A>G (p.Glu4383Gly) c.13325A>G (p.Glu4442Gly) c.13175A>G (p.Glu4392Gly) c.9875A>G (p.Glu3292Gly) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143916592T>G | CA372475903 | PLEC | c.13361A>C (p.Glu4454Ala) c.13280A>C (p.Glu4427Ala) c.12947A>C (p.Glu4316Ala) c.13160A>C (p.Glu4387Ala) c.13229A>C (p.Glu4410Ala) c.9929A>C (p.Glu3310Ala) c.13640A>C (p.Glu4547Ala) c.13163A>C (p.Glu4388Ala) c.13187A>C (p.Glu4396Ala) c.13241A>C (p.Glu4414Ala) c.13133A>C (p.Glu4378Ala) c.13310A>C (p.Glu4437Ala) c.13298A>C (p.Glu4433Ala) c.13655A>C (p.Glu4552Ala) c.13256A>C (p.Glu4419Ala) c.13244A>C (p.Glu4415Ala) c.13202A>C (p.Glu4401Ala) c.13178A>C (p.Glu4393Ala) c.13148A>C (p.Glu4383Ala) c.13325A>C (p.Glu4442Ala) c.13175A>C (p.Glu4392Ala) c.9875A>C (p.Glu3292Ala) | |
| 8 | g.143916593C>A | CA372475907 | PLEC | c.13360G>T (p.Glu4454Ter) c.13279G>T (p.Glu4427Ter) c.12946G>T (p.Glu4316Ter) c.13159G>T (p.Glu4387Ter) c.13228G>T (p.Glu4410Ter) c.9928G>T (p.Glu3310Ter) c.13639G>T (p.Glu4547Ter) c.13162G>T (p.Glu4388Ter) c.13186G>T (p.Glu4396Ter) c.13240G>T (p.Glu4414Ter) c.13132G>T (p.Glu4378Ter) c.13309G>T (p.Glu4437Ter) c.13297G>T (p.Glu4433Ter) c.13654G>T (p.Glu4552Ter) c.13255G>T (p.Glu4419Ter) c.13243G>T (p.Glu4415Ter) c.13201G>T (p.Glu4401Ter) c.13177G>T (p.Glu4393Ter) c.13147G>T (p.Glu4383Ter) c.13324G>T (p.Glu4442Ter) c.13174G>T (p.Glu4392Ter) c.9874G>T (p.Glu3292Ter) | |
| 8 | g.143916593C= | CA1826037436 | PLEC | c.13360G= (p.Glu4454=) c.13279G= (p.Glu4427=) c.12946G= (p.Glu4316=) c.13159G= (p.Glu4387=) c.13228G= (p.Glu4410=) c.9928G= (p.Glu3310=) c.13639G= (p.Glu4547=) c.13162G= (p.Glu4388=) c.13186G= (p.Glu4396=) c.13240G= (p.Glu4414=) c.13132G= (p.Glu4378=) c.13309G= (p.Glu4437=) c.13297G= (p.Glu4433=) c.13654G= (p.Glu4552=) c.13255G= (p.Glu4419=) c.13243G= (p.Glu4415=) c.13201G= (p.Glu4401=) c.13177G= (p.Glu4393=) c.13147G= (p.Glu4383=) c.13324G= (p.Glu4442=) c.13174G= (p.Glu4392=) c.9874G= (p.Glu3292=) | |
| 8 | g.143916593C>G | CA372475909 | PLEC | c.13360G>C (p.Glu4454Gln) c.13279G>C (p.Glu4427Gln) c.12946G>C (p.Glu4316Gln) c.13159G>C (p.Glu4387Gln) c.13228G>C (p.Glu4410Gln) c.9928G>C (p.Glu3310Gln) c.13639G>C (p.Glu4547Gln) c.13162G>C (p.Glu4388Gln) c.13186G>C (p.Glu4396Gln) c.13240G>C (p.Glu4414Gln) c.13132G>C (p.Glu4378Gln) c.13309G>C (p.Glu4437Gln) c.13297G>C (p.Glu4433Gln) c.13654G>C (p.Glu4552Gln) c.13255G>C (p.Glu4419Gln) c.13243G>C (p.Glu4415Gln) c.13201G>C (p.Glu4401Gln) c.13177G>C (p.Glu4393Gln) c.13147G>C (p.Glu4383Gln) c.13324G>C (p.Glu4442Gln) c.13174G>C (p.Glu4392Gln) c.9874G>C (p.Glu3292Gln) | |
| 8 | g.143916593C>T | CA4923875 | PLEC | c.13360G>A (p.Glu4454Lys) c.13279G>A (p.Glu4427Lys) c.12946G>A (p.Glu4316Lys) c.13159G>A (p.Glu4387Lys) c.13228G>A (p.Glu4410Lys) c.9928G>A (p.Glu3310Lys) c.13639G>A (p.Glu4547Lys) c.13162G>A (p.Glu4388Lys) c.13186G>A (p.Glu4396Lys) c.13240G>A (p.Glu4414Lys) c.13132G>A (p.Glu4378Lys) c.13309G>A (p.Glu4437Lys) c.13297G>A (p.Glu4433Lys) c.13654G>A (p.Glu4552Lys) c.13255G>A (p.Glu4419Lys) c.13243G>A (p.Glu4415Lys) c.13201G>A (p.Glu4401Lys) c.13177G>A (p.Glu4393Lys) c.13147G>A (p.Glu4383Lys) c.13324G>A (p.Glu4442Lys) c.13174G>A (p.Glu4392Lys) c.9874G>A (p.Glu3292Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916594G>A | CA4923876 | PLEC | c.13359C>T (p.Asp4453=) c.13278C>T (p.Asp4426=) c.12945C>T (p.Asp4315=) c.13158C>T (p.Asp4386=) c.13227C>T (p.Asp4409=) c.9927C>T (p.Asp3309=) c.13638C>T (p.Asp4546=) c.13161C>T (p.Asp4387=) c.13185C>T (p.Asp4395=) c.13239C>T (p.Asp4413=) c.13131C>T (p.Asp4377=) c.13308C>T (p.Asp4436=) c.13296C>T (p.Asp4432=) c.13653C>T (p.Asp4551=) c.13254C>T (p.Asp4418=) c.13242C>T (p.Asp4414=) c.13200C>T (p.Asp4400=) c.13176C>T (p.Asp4392=) c.13146C>T (p.Asp4382=) c.13323C>T (p.Asp4441=) c.13173C>T (p.Asp4391=) c.9873C>T (p.Asp3291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916594G>C | CA372475911 | PLEC | c.13359C>G (p.Asp4453Glu) c.13278C>G (p.Asp4426Glu) c.12945C>G (p.Asp4315Glu) c.13158C>G (p.Asp4386Glu) c.13227C>G (p.Asp4409Glu) c.9927C>G (p.Asp3309Glu) c.13638C>G (p.Asp4546Glu) c.13161C>G (p.Asp4387Glu) c.13185C>G (p.Asp4395Glu) c.13239C>G (p.Asp4413Glu) c.13131C>G (p.Asp4377Glu) c.13308C>G (p.Asp4436Glu) c.13296C>G (p.Asp4432Glu) c.13653C>G (p.Asp4551Glu) c.13254C>G (p.Asp4418Glu) c.13242C>G (p.Asp4414Glu) c.13200C>G (p.Asp4400Glu) c.13176C>G (p.Asp4392Glu) c.13146C>G (p.Asp4382Glu) c.13323C>G (p.Asp4441Glu) c.13173C>G (p.Asp4391Glu) c.9873C>G (p.Asp3291Glu) | |
| 8 | g.143916594G= | CA1826037440 | PLEC | c.13359C= (p.Asp4453=) c.13278C= (p.Asp4426=) c.12945C= (p.Asp4315=) c.13158C= (p.Asp4386=) c.13227C= (p.Asp4409=) c.9927C= (p.Asp3309=) c.13638C= (p.Asp4546=) c.13161C= (p.Asp4387=) c.13185C= (p.Asp4395=) c.13239C= (p.Asp4413=) c.13131C= (p.Asp4377=) c.13308C= (p.Asp4436=) c.13296C= (p.Asp4432=) c.13653C= (p.Asp4551=) c.13254C= (p.Asp4418=) c.13242C= (p.Asp4414=) c.13200C= (p.Asp4400=) c.13176C= (p.Asp4392=) c.13146C= (p.Asp4382=) c.13323C= (p.Asp4441=) c.13173C= (p.Asp4391=) c.9873C= (p.Asp3291=) | |
| 8 | g.143916594G>T | CA372475913 | PLEC | c.13359C>A (p.Asp4453Glu) c.13278C>A (p.Asp4426Glu) c.12945C>A (p.Asp4315Glu) c.13158C>A (p.Asp4386Glu) c.13227C>A (p.Asp4409Glu) c.9927C>A (p.Asp3309Glu) c.13638C>A (p.Asp4546Glu) c.13161C>A (p.Asp4387Glu) c.13185C>A (p.Asp4395Glu) c.13239C>A (p.Asp4413Glu) c.13131C>A (p.Asp4377Glu) c.13308C>A (p.Asp4436Glu) c.13296C>A (p.Asp4432Glu) c.13653C>A (p.Asp4551Glu) c.13254C>A (p.Asp4418Glu) c.13242C>A (p.Asp4414Glu) c.13200C>A (p.Asp4400Glu) c.13176C>A (p.Asp4392Glu) c.13146C>A (p.Asp4382Glu) c.13323C>A (p.Asp4441Glu) c.13173C>A (p.Asp4391Glu) c.9873C>A (p.Asp3291Glu) | |
| 8 | g.143916595T>A | CA372475915 | PLEC | c.13358A>T (p.Asp4453Val) c.13277A>T (p.Asp4426Val) c.12944A>T (p.Asp4315Val) c.13157A>T (p.Asp4386Val) c.13226A>T (p.Asp4409Val) c.9926A>T (p.Asp3309Val) c.13637A>T (p.Asp4546Val) c.13160A>T (p.Asp4387Val) c.13184A>T (p.Asp4395Val) c.13238A>T (p.Asp4413Val) c.13130A>T (p.Asp4377Val) c.13307A>T (p.Asp4436Val) c.13295A>T (p.Asp4432Val) c.13652A>T (p.Asp4551Val) c.13253A>T (p.Asp4418Val) c.13241A>T (p.Asp4414Val) c.13199A>T (p.Asp4400Val) c.13175A>T (p.Asp4392Val) c.13145A>T (p.Asp4382Val) c.13322A>T (p.Asp4441Val) c.13172A>T (p.Asp4391Val) c.9872A>T (p.Asp3291Val) | |
| 8 | g.143916595T>C | CA372475917 | PLEC | c.13358A>G (p.Asp4453Gly) c.13277A>G (p.Asp4426Gly) c.12944A>G (p.Asp4315Gly) c.13157A>G (p.Asp4386Gly) c.13226A>G (p.Asp4409Gly) c.9926A>G (p.Asp3309Gly) c.13637A>G (p.Asp4546Gly) c.13160A>G (p.Asp4387Gly) c.13184A>G (p.Asp4395Gly) c.13238A>G (p.Asp4413Gly) c.13130A>G (p.Asp4377Gly) c.13307A>G (p.Asp4436Gly) c.13295A>G (p.Asp4432Gly) c.13652A>G (p.Asp4551Gly) c.13253A>G (p.Asp4418Gly) c.13241A>G (p.Asp4414Gly) c.13199A>G (p.Asp4400Gly) c.13175A>G (p.Asp4392Gly) c.13145A>G (p.Asp4382Gly) c.13322A>G (p.Asp4441Gly) c.13172A>G (p.Asp4391Gly) c.9872A>G (p.Asp3291Gly) | |
| 8 | g.143916595T>G | CA372475919 | PLEC | c.13358A>C (p.Asp4453Ala) c.13277A>C (p.Asp4426Ala) c.12944A>C (p.Asp4315Ala) c.13157A>C (p.Asp4386Ala) c.13226A>C (p.Asp4409Ala) c.9926A>C (p.Asp3309Ala) c.13637A>C (p.Asp4546Ala) c.13160A>C (p.Asp4387Ala) c.13184A>C (p.Asp4395Ala) c.13238A>C (p.Asp4413Ala) c.13130A>C (p.Asp4377Ala) c.13307A>C (p.Asp4436Ala) c.13295A>C (p.Asp4432Ala) c.13652A>C (p.Asp4551Ala) c.13253A>C (p.Asp4418Ala) c.13241A>C (p.Asp4414Ala) c.13199A>C (p.Asp4400Ala) c.13175A>C (p.Asp4392Ala) c.13145A>C (p.Asp4382Ala) c.13322A>C (p.Asp4441Ala) c.13172A>C (p.Asp4391Ala) c.9872A>C (p.Asp3291Ala) | |
| 8 | g.143916596C>A | CA372475924 | PLEC | c.13357G>T (p.Asp4453Tyr) c.13276G>T (p.Asp4426Tyr) c.12943G>T (p.Asp4315Tyr) c.13156G>T (p.Asp4386Tyr) c.13225G>T (p.Asp4409Tyr) c.9925G>T (p.Asp3309Tyr) c.13636G>T (p.Asp4546Tyr) c.13159G>T (p.Asp4387Tyr) c.13183G>T (p.Asp4395Tyr) c.13237G>T (p.Asp4413Tyr) c.13129G>T (p.Asp4377Tyr) c.13306G>T (p.Asp4436Tyr) c.13294G>T (p.Asp4432Tyr) c.13651G>T (p.Asp4551Tyr) c.13252G>T (p.Asp4418Tyr) c.13240G>T (p.Asp4414Tyr) c.13198G>T (p.Asp4400Tyr) c.13174G>T (p.Asp4392Tyr) c.13144G>T (p.Asp4382Tyr) c.13321G>T (p.Asp4441Tyr) c.13171G>T (p.Asp4391Tyr) c.9871G>T (p.Asp3291Tyr) | |
| 8 | g.143916596C= | CA1826037441 | PLEC | c.13357G= (p.Asp4453=) c.13276G= (p.Asp4426=) c.12943G= (p.Asp4315=) c.13156G= (p.Asp4386=) c.13225G= (p.Asp4409=) c.9925G= (p.Asp3309=) c.13636G= (p.Asp4546=) c.13159G= (p.Asp4387=) c.13183G= (p.Asp4395=) c.13237G= (p.Asp4413=) c.13129G= (p.Asp4377=) c.13306G= (p.Asp4436=) c.13294G= (p.Asp4432=) c.13651G= (p.Asp4551=) c.13252G= (p.Asp4418=) c.13240G= (p.Asp4414=) c.13198G= (p.Asp4400=) c.13174G= (p.Asp4392=) c.13144G= (p.Asp4382=) c.13321G= (p.Asp4441=) c.13171G= (p.Asp4391=) c.9871G= (p.Asp3291=) | |
| 8 | g.143916596C>G | CA372475923 | PLEC | c.13357G>C (p.Asp4453His) c.13276G>C (p.Asp4426His) c.12943G>C (p.Asp4315His) c.13156G>C (p.Asp4386His) c.13225G>C (p.Asp4409His) c.9925G>C (p.Asp3309His) c.13636G>C (p.Asp4546His) c.13159G>C (p.Asp4387His) c.13183G>C (p.Asp4395His) c.13237G>C (p.Asp4413His) c.13129G>C (p.Asp4377His) c.13306G>C (p.Asp4436His) c.13294G>C (p.Asp4432His) c.13651G>C (p.Asp4551His) c.13252G>C (p.Asp4418His) c.13240G>C (p.Asp4414His) c.13198G>C (p.Asp4400His) c.13174G>C (p.Asp4392His) c.13144G>C (p.Asp4382His) c.13321G>C (p.Asp4441His) c.13171G>C (p.Asp4391His) c.9871G>C (p.Asp3291His) | |
| 8 | g.143916596C>T | CA372475921 | PLEC | c.13357G>A (p.Asp4453Asn) c.13276G>A (p.Asp4426Asn) c.12943G>A (p.Asp4315Asn) c.13156G>A (p.Asp4386Asn) c.13225G>A (p.Asp4409Asn) c.9925G>A (p.Asp3309Asn) c.13636G>A (p.Asp4546Asn) c.13159G>A (p.Asp4387Asn) c.13183G>A (p.Asp4395Asn) c.13237G>A (p.Asp4413Asn) c.13129G>A (p.Asp4377Asn) c.13306G>A (p.Asp4436Asn) c.13294G>A (p.Asp4432Asn) c.13651G>A (p.Asp4551Asn) c.13252G>A (p.Asp4418Asn) c.13240G>A (p.Asp4414Asn) c.13198G>A (p.Asp4400Asn) c.13174G>A (p.Asp4392Asn) c.13144G>A (p.Asp4382Asn) c.13321G>A (p.Asp4441Asn) c.13171G>A (p.Asp4391Asn) c.9871G>A (p.Asp3291Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143916597C>A | CA463525724 | PLEC | c.13356G>T (p.Leu4452=) c.13275G>T (p.Leu4425=) c.12942G>T (p.Leu4314=) c.13155G>T (p.Leu4385=) c.13224G>T (p.Leu4408=) c.9924G>T (p.Leu3308=) c.13635G>T (p.Leu4545=) c.13158G>T (p.Leu4386=) c.13182G>T (p.Leu4394=) c.13236G>T (p.Leu4412=) c.13128G>T (p.Leu4376=) c.13305G>T (p.Leu4435=) c.13293G>T (p.Leu4431=) c.13650G>T (p.Leu4550=) c.13251G>T (p.Leu4417=) c.13239G>T (p.Leu4413=) c.13197G>T (p.Leu4399=) c.13173G>T (p.Leu4391=) c.13143G>T (p.Leu4381=) c.13320G>T (p.Leu4440=) c.13170G>T (p.Leu4390=) c.9870G>T (p.Leu3290=) | |
| 8 | g.143916597C>G | CA463525722 | PLEC | c.13356G>C (p.Leu4452=) c.13275G>C (p.Leu4425=) c.12942G>C (p.Leu4314=) c.13155G>C (p.Leu4385=) c.13224G>C (p.Leu4408=) c.9924G>C (p.Leu3308=) c.13635G>C (p.Leu4545=) c.13158G>C (p.Leu4386=) c.13182G>C (p.Leu4394=) c.13236G>C (p.Leu4412=) c.13128G>C (p.Leu4376=) c.13305G>C (p.Leu4435=) c.13293G>C (p.Leu4431=) c.13650G>C (p.Leu4550=) c.13251G>C (p.Leu4417=) c.13239G>C (p.Leu4413=) c.13197G>C (p.Leu4399=) c.13173G>C (p.Leu4391=) c.13143G>C (p.Leu4381=) c.13320G>C (p.Leu4440=) c.13170G>C (p.Leu4390=) c.9870G>C (p.Leu3290=) | |
| 8 | g.143916597C>T | CA463525723 | PLEC | c.13356G>A (p.Leu4452=) c.13275G>A (p.Leu4425=) c.12942G>A (p.Leu4314=) c.13155G>A (p.Leu4385=) c.13224G>A (p.Leu4408=) c.9924G>A (p.Leu3308=) c.13635G>A (p.Leu4545=) c.13158G>A (p.Leu4386=) c.13182G>A (p.Leu4394=) c.13236G>A (p.Leu4412=) c.13128G>A (p.Leu4376=) c.13305G>A (p.Leu4435=) c.13293G>A (p.Leu4431=) c.13650G>A (p.Leu4550=) c.13251G>A (p.Leu4417=) c.13239G>A (p.Leu4413=) c.13197G>A (p.Leu4399=) c.13173G>A (p.Leu4391=) c.13143G>A (p.Leu4381=) c.13320G>A (p.Leu4440=) c.13170G>A (p.Leu4390=) c.9870G>A (p.Leu3290=) | |
| 8 | g.143916598A>C | CA372475926 | PLEC | c.13355T>G (p.Leu4452Arg) c.13274T>G (p.Leu4425Arg) c.12941T>G (p.Leu4314Arg) c.13154T>G (p.Leu4385Arg) c.13223T>G (p.Leu4408Arg) c.9923T>G (p.Leu3308Arg) c.13634T>G (p.Leu4545Arg) c.13157T>G (p.Leu4386Arg) c.13181T>G (p.Leu4394Arg) c.13235T>G (p.Leu4412Arg) c.13127T>G (p.Leu4376Arg) c.13304T>G (p.Leu4435Arg) c.13292T>G (p.Leu4431Arg) c.13649T>G (p.Leu4550Arg) c.13250T>G (p.Leu4417Arg) c.13238T>G (p.Leu4413Arg) c.13196T>G (p.Leu4399Arg) c.13172T>G (p.Leu4391Arg) c.13142T>G (p.Leu4381Arg) c.13319T>G (p.Leu4440Arg) c.13169T>G (p.Leu4390Arg) c.9869T>G (p.Leu3290Arg) | |
| 8 | g.143916598A>G | CA372475928 | PLEC | c.13355T>C (p.Leu4452Pro) c.13274T>C (p.Leu4425Pro) c.12941T>C (p.Leu4314Pro) c.13154T>C (p.Leu4385Pro) c.13223T>C (p.Leu4408Pro) c.9923T>C (p.Leu3308Pro) c.13634T>C (p.Leu4545Pro) c.13157T>C (p.Leu4386Pro) c.13181T>C (p.Leu4394Pro) c.13235T>C (p.Leu4412Pro) c.13127T>C (p.Leu4376Pro) c.13304T>C (p.Leu4435Pro) c.13292T>C (p.Leu4431Pro) c.13649T>C (p.Leu4550Pro) c.13250T>C (p.Leu4417Pro) c.13238T>C (p.Leu4413Pro) c.13196T>C (p.Leu4399Pro) c.13172T>C (p.Leu4391Pro) c.13142T>C (p.Leu4381Pro) c.13319T>C (p.Leu4440Pro) c.13169T>C (p.Leu4390Pro) c.9869T>C (p.Leu3290Pro) | |
| 8 | g.143916598A>T | CA372475929 | PLEC | c.13355T>A (p.Leu4452Gln) c.13274T>A (p.Leu4425Gln) c.12941T>A (p.Leu4314Gln) c.13154T>A (p.Leu4385Gln) c.13223T>A (p.Leu4408Gln) c.9923T>A (p.Leu3308Gln) c.13634T>A (p.Leu4545Gln) c.13157T>A (p.Leu4386Gln) c.13181T>A (p.Leu4394Gln) c.13235T>A (p.Leu4412Gln) c.13127T>A (p.Leu4376Gln) c.13304T>A (p.Leu4435Gln) c.13292T>A (p.Leu4431Gln) c.13649T>A (p.Leu4550Gln) c.13250T>A (p.Leu4417Gln) c.13238T>A (p.Leu4413Gln) c.13196T>A (p.Leu4399Gln) c.13172T>A (p.Leu4391Gln) c.13142T>A (p.Leu4381Gln) c.13319T>A (p.Leu4440Gln) c.13169T>A (p.Leu4390Gln) c.9869T>A (p.Leu3290Gln) | |
| 8 | g.143916599G>A | CA187606704 | PLEC | c.13354C>T (p.Leu4452=) c.13273C>T (p.Leu4425=) c.12940C>T (p.Leu4314=) c.13153C>T (p.Leu4385=) c.13222C>T (p.Leu4408=) c.9922C>T (p.Leu3308=) c.13633C>T (p.Leu4545=) c.13156C>T (p.Leu4386=) c.13180C>T (p.Leu4394=) c.13234C>T (p.Leu4412=) c.13126C>T (p.Leu4376=) c.13303C>T (p.Leu4435=) c.13291C>T (p.Leu4431=) c.13648C>T (p.Leu4550=) c.13249C>T (p.Leu4417=) c.13237C>T (p.Leu4413=) c.13195C>T (p.Leu4399=) c.13171C>T (p.Leu4391=) c.13141C>T (p.Leu4381=) c.13318C>T (p.Leu4440=) c.13168C>T (p.Leu4390=) c.9868C>T (p.Leu3290=) | dbSNP |
| 8 | g.143916599G>C | CA372475932 | PLEC | c.13354C>G (p.Leu4452Val) c.13273C>G (p.Leu4425Val) c.12940C>G (p.Leu4314Val) c.13153C>G (p.Leu4385Val) c.13222C>G (p.Leu4408Val) c.9922C>G (p.Leu3308Val) c.13633C>G (p.Leu4545Val) c.13156C>G (p.Leu4386Val) c.13180C>G (p.Leu4394Val) c.13234C>G (p.Leu4412Val) c.13126C>G (p.Leu4376Val) c.13303C>G (p.Leu4435Val) c.13291C>G (p.Leu4431Val) c.13648C>G (p.Leu4550Val) c.13249C>G (p.Leu4417Val) c.13237C>G (p.Leu4413Val) c.13195C>G (p.Leu4399Val) c.13171C>G (p.Leu4391Val) c.13141C>G (p.Leu4381Val) c.13318C>G (p.Leu4440Val) c.13168C>G (p.Leu4390Val) c.9868C>G (p.Leu3290Val) | |
| 8 | g.143916599G= | CA1826037443 | PLEC | c.13354C= (p.Leu4452=) c.13273C= (p.Leu4425=) c.12940C= (p.Leu4314=) c.13153C= (p.Leu4385=) c.13222C= (p.Leu4408=) c.9922C= (p.Leu3308=) c.13633C= (p.Leu4545=) c.13156C= (p.Leu4386=) c.13180C= (p.Leu4394=) c.13234C= (p.Leu4412=) c.13126C= (p.Leu4376=) c.13303C= (p.Leu4435=) c.13291C= (p.Leu4431=) c.13648C= (p.Leu4550=) c.13249C= (p.Leu4417=) c.13237C= (p.Leu4413=) c.13195C= (p.Leu4399=) c.13171C= (p.Leu4391=) c.13141C= (p.Leu4381=) c.13318C= (p.Leu4440=) c.13168C= (p.Leu4390=) c.9868C= (p.Leu3290=) | |
| 8 | g.143916599G>T | CA372475934 | PLEC | c.13354C>A (p.Leu4452Met) c.13273C>A (p.Leu4425Met) c.12940C>A (p.Leu4314Met) c.13153C>A (p.Leu4385Met) c.13222C>A (p.Leu4408Met) c.9922C>A (p.Leu3308Met) c.13633C>A (p.Leu4545Met) c.13156C>A (p.Leu4386Met) c.13180C>A (p.Leu4394Met) c.13234C>A (p.Leu4412Met) c.13126C>A (p.Leu4376Met) c.13303C>A (p.Leu4435Met) c.13291C>A (p.Leu4431Met) c.13648C>A (p.Leu4550Met) c.13249C>A (p.Leu4417Met) c.13237C>A (p.Leu4413Met) c.13195C>A (p.Leu4399Met) c.13171C>A (p.Leu4391Met) c.13141C>A (p.Leu4381Met) c.13318C>A (p.Leu4440Met) c.13168C>A (p.Leu4390Met) c.9868C>A (p.Leu3290Met) | |
| 8 | g.143916600G>A | CA463525726 | PLEC | c.13353C>T (p.Pro4451=) c.13272C>T (p.Pro4424=) c.12939C>T (p.Pro4313=) c.13152C>T (p.Pro4384=) c.13221C>T (p.Pro4407=) c.9921C>T (p.Pro3307=) c.13632C>T (p.Pro4544=) c.13155C>T (p.Pro4385=) c.13179C>T (p.Pro4393=) c.13233C>T (p.Pro4411=) c.13125C>T (p.Pro4375=) c.13302C>T (p.Pro4434=) c.13290C>T (p.Pro4430=) c.13647C>T (p.Pro4549=) c.13248C>T (p.Pro4416=) c.13236C>T (p.Pro4412=) c.13194C>T (p.Pro4398=) c.13170C>T (p.Pro4390=) c.13140C>T (p.Pro4380=) c.13317C>T (p.Pro4439=) c.13167C>T (p.Pro4389=) c.9867C>T (p.Pro3289=) | dbSNP |
| 8 | g.143916600G>C | CA463525727 | PLEC | c.13353C>G (p.Pro4451=) c.13272C>G (p.Pro4424=) c.12939C>G (p.Pro4313=) c.13152C>G (p.Pro4384=) c.13221C>G (p.Pro4407=) c.9921C>G (p.Pro3307=) c.13632C>G (p.Pro4544=) c.13155C>G (p.Pro4385=) c.13179C>G (p.Pro4393=) c.13233C>G (p.Pro4411=) c.13125C>G (p.Pro4375=) c.13302C>G (p.Pro4434=) c.13290C>G (p.Pro4430=) c.13647C>G (p.Pro4549=) c.13248C>G (p.Pro4416=) c.13236C>G (p.Pro4412=) c.13194C>G (p.Pro4398=) c.13170C>G (p.Pro4390=) c.13140C>G (p.Pro4380=) c.13317C>G (p.Pro4439=) c.13167C>G (p.Pro4389=) c.9867C>G (p.Pro3289=) | |
| 8 | g.143916600G= | CA1826037445 | PLEC | c.13353C= (p.Pro4451=) c.13272C= (p.Pro4424=) c.12939C= (p.Pro4313=) c.13152C= (p.Pro4384=) c.13221C= (p.Pro4407=) c.9921C= (p.Pro3307=) c.13632C= (p.Pro4544=) c.13155C= (p.Pro4385=) c.13179C= (p.Pro4393=) c.13233C= (p.Pro4411=) c.13125C= (p.Pro4375=) c.13302C= (p.Pro4434=) c.13290C= (p.Pro4430=) c.13647C= (p.Pro4549=) c.13248C= (p.Pro4416=) c.13236C= (p.Pro4412=) c.13194C= (p.Pro4398=) c.13170C= (p.Pro4390=) c.13140C= (p.Pro4380=) c.13317C= (p.Pro4439=) c.13167C= (p.Pro4389=) c.9867C= (p.Pro3289=) | |
| 8 | g.143916600G>T | CA463525728 | PLEC | c.13353C>A (p.Pro4451=) c.13272C>A (p.Pro4424=) c.12939C>A (p.Pro4313=) c.13152C>A (p.Pro4384=) c.13221C>A (p.Pro4407=) c.9921C>A (p.Pro3307=) c.13632C>A (p.Pro4544=) c.13155C>A (p.Pro4385=) c.13179C>A (p.Pro4393=) c.13233C>A (p.Pro4411=) c.13125C>A (p.Pro4375=) c.13302C>A (p.Pro4434=) c.13290C>A (p.Pro4430=) c.13647C>A (p.Pro4549=) c.13248C>A (p.Pro4416=) c.13236C>A (p.Pro4412=) c.13194C>A (p.Pro4398=) c.13170C>A (p.Pro4390=) c.13140C>A (p.Pro4380=) c.13317C>A (p.Pro4439=) c.13167C>A (p.Pro4389=) c.9867C>A (p.Pro3289=) | |
| 8 | g.143916601G>A | CA372475935 | PLEC | c.13352C>T (p.Pro4451Leu) c.13271C>T (p.Pro4424Leu) c.12938C>T (p.Pro4313Leu) c.13151C>T (p.Pro4384Leu) c.13220C>T (p.Pro4407Leu) c.9920C>T (p.Pro3307Leu) c.13631C>T (p.Pro4544Leu) c.13154C>T (p.Pro4385Leu) c.13178C>T (p.Pro4393Leu) c.13232C>T (p.Pro4411Leu) c.13124C>T (p.Pro4375Leu) c.13301C>T (p.Pro4434Leu) c.13289C>T (p.Pro4430Leu) c.13646C>T (p.Pro4549Leu) c.13247C>T (p.Pro4416Leu) c.13235C>T (p.Pro4412Leu) c.13193C>T (p.Pro4398Leu) c.13169C>T (p.Pro4390Leu) c.13139C>T (p.Pro4380Leu) c.13316C>T (p.Pro4439Leu) c.13166C>T (p.Pro4389Leu) c.9866C>T (p.Pro3289Leu) | ClinVar dbSNP |
| 8 | g.143916601G>C | CA372475936 | PLEC | c.13352C>G (p.Pro4451Arg) c.13271C>G (p.Pro4424Arg) c.12938C>G (p.Pro4313Arg) c.13151C>G (p.Pro4384Arg) c.13220C>G (p.Pro4407Arg) c.9920C>G (p.Pro3307Arg) c.13631C>G (p.Pro4544Arg) c.13154C>G (p.Pro4385Arg) c.13178C>G (p.Pro4393Arg) c.13232C>G (p.Pro4411Arg) c.13124C>G (p.Pro4375Arg) c.13301C>G (p.Pro4434Arg) c.13289C>G (p.Pro4430Arg) c.13646C>G (p.Pro4549Arg) c.13247C>G (p.Pro4416Arg) c.13235C>G (p.Pro4412Arg) c.13193C>G (p.Pro4398Arg) c.13169C>G (p.Pro4390Arg) c.13139C>G (p.Pro4380Arg) c.13316C>G (p.Pro4439Arg) c.13166C>G (p.Pro4389Arg) c.9866C>G (p.Pro3289Arg) | ClinVar dbSNP |
| 8 | g.143916601G= | CA1826037447 | PLEC | c.13352C= (p.Pro4451=) c.13271C= (p.Pro4424=) c.12938C= (p.Pro4313=) c.13151C= (p.Pro4384=) c.13220C= (p.Pro4407=) c.9920C= (p.Pro3307=) c.13631C= (p.Pro4544=) c.13154C= (p.Pro4385=) c.13178C= (p.Pro4393=) c.13232C= (p.Pro4411=) c.13124C= (p.Pro4375=) c.13301C= (p.Pro4434=) c.13289C= (p.Pro4430=) c.13646C= (p.Pro4549=) c.13247C= (p.Pro4416=) c.13235C= (p.Pro4412=) c.13193C= (p.Pro4398=) c.13169C= (p.Pro4390=) c.13139C= (p.Pro4380=) c.13316C= (p.Pro4439=) c.13166C= (p.Pro4389=) c.9866C= (p.Pro3289=) | |
| 8 | g.143916601G>T | CA372475938 | PLEC | c.13352C>A (p.Pro4451His) c.13271C>A (p.Pro4424His) c.12938C>A (p.Pro4313His) c.13151C>A (p.Pro4384His) c.13220C>A (p.Pro4407His) c.9920C>A (p.Pro3307His) c.13631C>A (p.Pro4544His) c.13154C>A (p.Pro4385His) c.13178C>A (p.Pro4393His) c.13232C>A (p.Pro4411His) c.13124C>A (p.Pro4375His) c.13301C>A (p.Pro4434His) c.13289C>A (p.Pro4430His) c.13646C>A (p.Pro4549His) c.13247C>A (p.Pro4416His) c.13235C>A (p.Pro4412His) c.13193C>A (p.Pro4398His) c.13169C>A (p.Pro4390His) c.13139C>A (p.Pro4380His) c.13316C>A (p.Pro4439His) c.13166C>A (p.Pro4389His) c.9866C>A (p.Pro3289His) | gnomAD v4 |
| 8 | g.143916602G>A | CA372475940 | PLEC | c.13351C>T (p.Pro4451Ser) c.13270C>T (p.Pro4424Ser) c.12937C>T (p.Pro4313Ser) c.13150C>T (p.Pro4384Ser) c.13219C>T (p.Pro4407Ser) c.9919C>T (p.Pro3307Ser) c.13630C>T (p.Pro4544Ser) c.13153C>T (p.Pro4385Ser) c.13177C>T (p.Pro4393Ser) c.13231C>T (p.Pro4411Ser) c.13123C>T (p.Pro4375Ser) c.13300C>T (p.Pro4434Ser) c.13288C>T (p.Pro4430Ser) c.13645C>T (p.Pro4549Ser) c.13246C>T (p.Pro4416Ser) c.13234C>T (p.Pro4412Ser) c.13192C>T (p.Pro4398Ser) c.13168C>T (p.Pro4390Ser) c.13138C>T (p.Pro4380Ser) c.13315C>T (p.Pro4439Ser) c.13165C>T (p.Pro4389Ser) c.9865C>T (p.Pro3289Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143916602G>C | CA4923877 | PLEC | c.13351C>G (p.Pro4451Ala) c.13270C>G (p.Pro4424Ala) c.12937C>G (p.Pro4313Ala) c.13150C>G (p.Pro4384Ala) c.13219C>G (p.Pro4407Ala) c.9919C>G (p.Pro3307Ala) c.13630C>G (p.Pro4544Ala) c.13153C>G (p.Pro4385Ala) c.13177C>G (p.Pro4393Ala) c.13231C>G (p.Pro4411Ala) c.13123C>G (p.Pro4375Ala) c.13300C>G (p.Pro4434Ala) c.13288C>G (p.Pro4430Ala) c.13645C>G (p.Pro4549Ala) c.13246C>G (p.Pro4416Ala) c.13234C>G (p.Pro4412Ala) c.13192C>G (p.Pro4398Ala) c.13168C>G (p.Pro4390Ala) c.13138C>G (p.Pro4380Ala) c.13315C>G (p.Pro4439Ala) c.13165C>G (p.Pro4389Ala) c.9865C>G (p.Pro3289Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916602G= | CA1826037450 | PLEC | c.13351C= (p.Pro4451=) c.13270C= (p.Pro4424=) c.12937C= (p.Pro4313=) c.13150C= (p.Pro4384=) c.13219C= (p.Pro4407=) c.9919C= (p.Pro3307=) c.13630C= (p.Pro4544=) c.13153C= (p.Pro4385=) c.13177C= (p.Pro4393=) c.13231C= (p.Pro4411=) c.13123C= (p.Pro4375=) c.13300C= (p.Pro4434=) c.13288C= (p.Pro4430=) c.13645C= (p.Pro4549=) c.13246C= (p.Pro4416=) c.13234C= (p.Pro4412=) c.13192C= (p.Pro4398=) c.13168C= (p.Pro4390=) c.13138C= (p.Pro4380=) c.13315C= (p.Pro4439=) c.13165C= (p.Pro4389=) c.9865C= (p.Pro3289=) | |
| 8 | g.143916602G>T | CA372475942 | PLEC | c.13351C>A (p.Pro4451Thr) c.13270C>A (p.Pro4424Thr) c.12937C>A (p.Pro4313Thr) c.13150C>A (p.Pro4384Thr) c.13219C>A (p.Pro4407Thr) c.9919C>A (p.Pro3307Thr) c.13630C>A (p.Pro4544Thr) c.13153C>A (p.Pro4385Thr) c.13177C>A (p.Pro4393Thr) c.13231C>A (p.Pro4411Thr) c.13123C>A (p.Pro4375Thr) c.13300C>A (p.Pro4434Thr) c.13288C>A (p.Pro4430Thr) c.13645C>A (p.Pro4549Thr) c.13246C>A (p.Pro4416Thr) c.13234C>A (p.Pro4412Thr) c.13192C>A (p.Pro4398Thr) c.13168C>A (p.Pro4390Thr) c.13138C>A (p.Pro4380Thr) c.13315C>A (p.Pro4439Thr) c.13165C>A (p.Pro4389Thr) c.9865C>A (p.Pro3289Thr) | |
| 8 | g.143916602_143916603delinsAA | CA2573142977 | PLEC | c.13350_13351delinsTT (p.Pro4451Ser) c.13269_13270delinsTT (p.Pro4424Ser) c.12936_12937delinsTT (p.Pro4313Ser) c.13149_13150delinsTT (p.Pro4384Ser) c.13218_13219delinsTT (p.Pro4407Ser) c.9918_9919delinsTT (p.Pro3307Ser) c.13629_13630delinsTT (p.Pro4544Ser) c.13152_13153delinsTT (p.Pro4385Ser) c.13176_13177delinsTT (p.Pro4393Ser) c.13230_13231delinsTT (p.Pro4411Ser) c.13122_13123delinsTT (p.Pro4375Ser) c.13299_13300delinsTT (p.Pro4434Ser) c.13287_13288delinsTT (p.Pro4430Ser) c.13644_13645delinsTT (p.Pro4549Ser) c.13245_13246delinsTT (p.Pro4416Ser) c.13233_13234delinsTT (p.Pro4412Ser) c.13191_13192delinsTT (p.Pro4398Ser) c.13167_13168delinsTT (p.Pro4390Ser) c.13137_13138delinsTT (p.Pro4380Ser) c.13314_13315delinsTT (p.Pro4439Ser) c.13164_13165delinsTT (p.Pro4389Ser) c.9864_9865delinsTT (p.Pro3289Ser) | ClinVar dbSNP |
| 8 | g.143916603C>A | CA463525729 | PLEC | c.13350G>T (p.Val4450=) c.13269G>T (p.Val4423=) c.12936G>T (p.Val4312=) c.13149G>T (p.Val4383=) c.13218G>T (p.Val4406=) c.9918G>T (p.Val3306=) c.13629G>T (p.Val4543=) c.13152G>T (p.Val4384=) c.13176G>T (p.Val4392=) c.13230G>T (p.Val4410=) c.13122G>T (p.Val4374=) c.13299G>T (p.Val4433=) c.13287G>T (p.Val4429=) c.13644G>T (p.Val4548=) c.13245G>T (p.Val4415=) c.13233G>T (p.Val4411=) c.13191G>T (p.Val4397=) c.13167G>T (p.Val4389=) c.13137G>T (p.Val4379=) c.13314G>T (p.Val4438=) c.13164G>T (p.Val4388=) c.9864G>T (p.Val3288=) | |
| 8 | g.143916603C= | CA1826037453 | PLEC | c.13350G= (p.Val4450=) c.13269G= (p.Val4423=) c.12936G= (p.Val4312=) c.13149G= (p.Val4383=) c.13218G= (p.Val4406=) c.9918G= (p.Val3306=) c.13629G= (p.Val4543=) c.13152G= (p.Val4384=) c.13176G= (p.Val4392=) c.13230G= (p.Val4410=) c.13122G= (p.Val4374=) c.13299G= (p.Val4433=) c.13287G= (p.Val4429=) c.13644G= (p.Val4548=) c.13245G= (p.Val4415=) c.13233G= (p.Val4411=) c.13191G= (p.Val4397=) c.13167G= (p.Val4389=) c.13137G= (p.Val4379=) c.13314G= (p.Val4438=) c.13164G= (p.Val4388=) c.9864G= (p.Val3288=) | |
| 8 | g.143916603C>G | CA463525730 | PLEC | c.13350G>C (p.Val4450=) c.13269G>C (p.Val4423=) c.12936G>C (p.Val4312=) c.13149G>C (p.Val4383=) c.13218G>C (p.Val4406=) c.9918G>C (p.Val3306=) c.13629G>C (p.Val4543=) c.13152G>C (p.Val4384=) c.13176G>C (p.Val4392=) c.13230G>C (p.Val4410=) c.13122G>C (p.Val4374=) c.13299G>C (p.Val4433=) c.13287G>C (p.Val4429=) c.13644G>C (p.Val4548=) c.13245G>C (p.Val4415=) c.13233G>C (p.Val4411=) c.13191G>C (p.Val4397=) c.13167G>C (p.Val4389=) c.13137G>C (p.Val4379=) c.13314G>C (p.Val4438=) c.13164G>C (p.Val4388=) c.9864G>C (p.Val3288=) | |
| 8 | g.143916603C>T | CA4923878 | PLEC | c.13350G>A (p.Val4450=) c.13269G>A (p.Val4423=) c.12936G>A (p.Val4312=) c.13149G>A (p.Val4383=) c.13218G>A (p.Val4406=) c.9918G>A (p.Val3306=) c.13629G>A (p.Val4543=) c.13152G>A (p.Val4384=) c.13176G>A (p.Val4392=) c.13230G>A (p.Val4410=) c.13122G>A (p.Val4374=) c.13299G>A (p.Val4433=) c.13287G>A (p.Val4429=) c.13644G>A (p.Val4548=) c.13245G>A (p.Val4415=) c.13233G>A (p.Val4411=) c.13191G>A (p.Val4397=) c.13167G>A (p.Val4389=) c.13137G>A (p.Val4379=) c.13314G>A (p.Val4438=) c.13164G>A (p.Val4388=) c.9864G>A (p.Val3288=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143916604A>C | CA372475948 | PLEC | c.13349T>G (p.Val4450Gly) c.13268T>G (p.Val4423Gly) c.12935T>G (p.Val4312Gly) c.13148T>G (p.Val4383Gly) c.13217T>G (p.Val4406Gly) c.9917T>G (p.Val3306Gly) c.13628T>G (p.Val4543Gly) c.13151T>G (p.Val4384Gly) c.13175T>G (p.Val4392Gly) c.13229T>G (p.Val4410Gly) c.13121T>G (p.Val4374Gly) c.13298T>G (p.Val4433Gly) c.13286T>G (p.Val4429Gly) c.13643T>G (p.Val4548Gly) c.13244T>G (p.Val4415Gly) c.13232T>G (p.Val4411Gly) c.13190T>G (p.Val4397Gly) c.13166T>G (p.Val4389Gly) c.13136T>G (p.Val4379Gly) c.13313T>G (p.Val4438Gly) c.13163T>G (p.Val4388Gly) c.9863T>G (p.Val3288Gly) | |
| 8 | g.143916604A>G | CA372475945 | PLEC | c.13349T>C (p.Val4450Ala) c.13268T>C (p.Val4423Ala) c.12935T>C (p.Val4312Ala) c.13148T>C (p.Val4383Ala) c.13217T>C (p.Val4406Ala) c.9917T>C (p.Val3306Ala) c.13628T>C (p.Val4543Ala) c.13151T>C (p.Val4384Ala) c.13175T>C (p.Val4392Ala) c.13229T>C (p.Val4410Ala) c.13121T>C (p.Val4374Ala) c.13298T>C (p.Val4433Ala) c.13286T>C (p.Val4429Ala) c.13643T>C (p.Val4548Ala) c.13244T>C (p.Val4415Ala) c.13232T>C (p.Val4411Ala) c.13190T>C (p.Val4397Ala) c.13166T>C (p.Val4389Ala) c.13136T>C (p.Val4379Ala) c.13313T>C (p.Val4438Ala) c.13163T>C (p.Val4388Ala) c.9863T>C (p.Val3288Ala) | |
| 8 | g.143916604A>T | CA372475947 | PLEC | c.13349T>A (p.Val4450Glu) c.13268T>A (p.Val4423Glu) c.12935T>A (p.Val4312Glu) c.13148T>A (p.Val4383Glu) c.13217T>A (p.Val4406Glu) c.9917T>A (p.Val3306Glu) c.13628T>A (p.Val4543Glu) c.13151T>A (p.Val4384Glu) c.13175T>A (p.Val4392Glu) c.13229T>A (p.Val4410Glu) c.13121T>A (p.Val4374Glu) c.13298T>A (p.Val4433Glu) c.13286T>A (p.Val4429Glu) c.13643T>A (p.Val4548Glu) c.13244T>A (p.Val4415Glu) c.13232T>A (p.Val4411Glu) c.13190T>A (p.Val4397Glu) c.13166T>A (p.Val4389Glu) c.13136T>A (p.Val4379Glu) c.13313T>A (p.Val4438Glu) c.13163T>A (p.Val4388Glu) c.9863T>A (p.Val3288Glu) | |
| 8 | g.143916605C>A | CA372475950 | PLEC | c.13348G>T (p.Val4450Leu) c.13267G>T (p.Val4423Leu) c.12934G>T (p.Val4312Leu) c.13147G>T (p.Val4383Leu) c.13216G>T (p.Val4406Leu) c.9916G>T (p.Val3306Leu) c.13627G>T (p.Val4543Leu) c.13150G>T (p.Val4384Leu) c.13174G>T (p.Val4392Leu) c.13228G>T (p.Val4410Leu) c.13120G>T (p.Val4374Leu) c.13297G>T (p.Val4433Leu) c.13285G>T (p.Val4429Leu) c.13642G>T (p.Val4548Leu) c.13243G>T (p.Val4415Leu) c.13231G>T (p.Val4411Leu) c.13189G>T (p.Val4397Leu) c.13165G>T (p.Val4389Leu) c.13135G>T (p.Val4379Leu) c.13312G>T (p.Val4438Leu) c.13162G>T (p.Val4388Leu) c.9862G>T (p.Val3288Leu) | ClinVar gnomAD v4 |
| 8 | g.143916605C= | CA1826037456 | PLEC | c.13348G= (p.Val4450=) c.13267G= (p.Val4423=) c.12934G= (p.Val4312=) c.13147G= (p.Val4383=) c.13216G= (p.Val4406=) c.9916G= (p.Val3306=) c.13627G= (p.Val4543=) c.13150G= (p.Val4384=) c.13174G= (p.Val4392=) c.13228G= (p.Val4410=) c.13120G= (p.Val4374=) c.13297G= (p.Val4433=) c.13285G= (p.Val4429=) c.13642G= (p.Val4548=) c.13243G= (p.Val4415=) c.13231G= (p.Val4411=) c.13189G= (p.Val4397=) c.13165G= (p.Val4389=) c.13135G= (p.Val4379=) c.13312G= (p.Val4438=) c.13162G= (p.Val4388=) c.9862G= (p.Val3288=) | |
| 8 | g.143916605C>G | CA372475952 | PLEC | c.13348G>C (p.Val4450Leu) c.13267G>C (p.Val4423Leu) c.12934G>C (p.Val4312Leu) c.13147G>C (p.Val4383Leu) c.13216G>C (p.Val4406Leu) c.9916G>C (p.Val3306Leu) c.13627G>C (p.Val4543Leu) c.13150G>C (p.Val4384Leu) c.13174G>C (p.Val4392Leu) c.13228G>C (p.Val4410Leu) c.13120G>C (p.Val4374Leu) c.13297G>C (p.Val4433Leu) c.13285G>C (p.Val4429Leu) c.13642G>C (p.Val4548Leu) c.13243G>C (p.Val4415Leu) c.13231G>C (p.Val4411Leu) c.13189G>C (p.Val4397Leu) c.13165G>C (p.Val4389Leu) c.13135G>C (p.Val4379Leu) c.13312G>C (p.Val4438Leu) c.13162G>C (p.Val4388Leu) c.9862G>C (p.Val3288Leu) | |
| 8 | g.143916605C>T | CA4923879 | PLEC | c.13348G>A (p.Val4450Met) c.13267G>A (p.Val4423Met) c.12934G>A (p.Val4312Met) c.13147G>A (p.Val4383Met) c.13216G>A (p.Val4406Met) c.9916G>A (p.Val3306Met) c.13627G>A (p.Val4543Met) c.13150G>A (p.Val4384Met) c.13174G>A (p.Val4392Met) c.13228G>A (p.Val4410Met) c.13120G>A (p.Val4374Met) c.13297G>A (p.Val4433Met) c.13285G>A (p.Val4429Met) c.13642G>A (p.Val4548Met) c.13243G>A (p.Val4415Met) c.13231G>A (p.Val4411Met) c.13189G>A (p.Val4397Met) c.13165G>A (p.Val4389Met) c.13135G>A (p.Val4379Met) c.13312G>A (p.Val4438Met) c.13162G>A (p.Val4388Met) c.9862G>A (p.Val3288Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916606G>A | CA4923880 | PLEC | c.13347C>T (p.Arg4449=) c.13266C>T (p.Arg4422=) c.12933C>T (p.Arg4311=) c.13146C>T (p.Arg4382=) c.13215C>T (p.Arg4405=) c.9915C>T (p.Arg3305=) c.13626C>T (p.Arg4542=) c.13149C>T (p.Arg4383=) c.13173C>T (p.Arg4391=) c.13227C>T (p.Arg4409=) c.13119C>T (p.Arg4373=) c.13296C>T (p.Arg4432=) c.13284C>T (p.Arg4428=) c.13641C>T (p.Arg4547=) c.13242C>T (p.Arg4414=) c.13230C>T (p.Arg4410=) c.13188C>T (p.Arg4396=) c.13164C>T (p.Arg4388=) c.13134C>T (p.Arg4378=) c.13311C>T (p.Arg4437=) c.13161C>T (p.Arg4387=) c.9861C>T (p.Arg3287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916606G>C | CA463525831 | PLEC | c.13347C>G (p.Arg4449=) c.13266C>G (p.Arg4422=) c.12933C>G (p.Arg4311=) c.13146C>G (p.Arg4382=) c.13215C>G (p.Arg4405=) c.9915C>G (p.Arg3305=) c.13626C>G (p.Arg4542=) c.13149C>G (p.Arg4383=) c.13173C>G (p.Arg4391=) c.13227C>G (p.Arg4409=) c.13119C>G (p.Arg4373=) c.13296C>G (p.Arg4432=) c.13284C>G (p.Arg4428=) c.13641C>G (p.Arg4547=) c.13242C>G (p.Arg4414=) c.13230C>G (p.Arg4410=) c.13188C>G (p.Arg4396=) c.13164C>G (p.Arg4388=) c.13134C>G (p.Arg4378=) c.13311C>G (p.Arg4437=) c.13161C>G (p.Arg4387=) c.9861C>G (p.Arg3287=) | |
| 8 | g.143916606G= | CA1826037459 | PLEC | c.13347C= (p.Arg4449=) c.13266C= (p.Arg4422=) c.12933C= (p.Arg4311=) c.13146C= (p.Arg4382=) c.13215C= (p.Arg4405=) c.9915C= (p.Arg3305=) c.13626C= (p.Arg4542=) c.13149C= (p.Arg4383=) c.13173C= (p.Arg4391=) c.13227C= (p.Arg4409=) c.13119C= (p.Arg4373=) c.13296C= (p.Arg4432=) c.13284C= (p.Arg4428=) c.13641C= (p.Arg4547=) c.13242C= (p.Arg4414=) c.13230C= (p.Arg4410=) c.13188C= (p.Arg4396=) c.13164C= (p.Arg4388=) c.13134C= (p.Arg4378=) c.13311C= (p.Arg4437=) c.13161C= (p.Arg4387=) c.9861C= (p.Arg3287=) | |
| 8 | g.143916606G>T | CA463525833 | PLEC | c.13347C>A (p.Arg4449=) c.13266C>A (p.Arg4422=) c.12933C>A (p.Arg4311=) c.13146C>A (p.Arg4382=) c.13215C>A (p.Arg4405=) c.9915C>A (p.Arg3305=) c.13626C>A (p.Arg4542=) c.13149C>A (p.Arg4383=) c.13173C>A (p.Arg4391=) c.13227C>A (p.Arg4409=) c.13119C>A (p.Arg4373=) c.13296C>A (p.Arg4432=) c.13284C>A (p.Arg4428=) c.13641C>A (p.Arg4547=) c.13242C>A (p.Arg4414=) c.13230C>A (p.Arg4410=) c.13188C>A (p.Arg4396=) c.13164C>A (p.Arg4388=) c.13134C>A (p.Arg4378=) c.13311C>A (p.Arg4437=) c.13161C>A (p.Arg4387=) c.9861C>A (p.Arg3287=) | dbSNP |
| 8 | g.143916607C>A | CA372475954 | PLEC | c.13346G>T (p.Arg4449Leu) c.13265G>T (p.Arg4422Leu) c.12932G>T (p.Arg4311Leu) c.13145G>T (p.Arg4382Leu) c.13214G>T (p.Arg4405Leu) c.9914G>T (p.Arg3305Leu) c.13625G>T (p.Arg4542Leu) c.13148G>T (p.Arg4383Leu) c.13172G>T (p.Arg4391Leu) c.13226G>T (p.Arg4409Leu) c.13118G>T (p.Arg4373Leu) c.13295G>T (p.Arg4432Leu) c.13283G>T (p.Arg4428Leu) c.13640G>T (p.Arg4547Leu) c.13241G>T (p.Arg4414Leu) c.13229G>T (p.Arg4410Leu) c.13187G>T (p.Arg4396Leu) c.13163G>T (p.Arg4388Leu) c.13133G>T (p.Arg4378Leu) c.13310G>T (p.Arg4437Leu) c.13160G>T (p.Arg4387Leu) c.9860G>T (p.Arg3287Leu) | |
| 8 | g.143916607C= | CA1826037464 | PLEC | c.13346G= (p.Arg4449=) c.13265G= (p.Arg4422=) c.12932G= (p.Arg4311=) c.13145G= (p.Arg4382=) c.13214G= (p.Arg4405=) c.9914G= (p.Arg3305=) c.13625G= (p.Arg4542=) c.13148G= (p.Arg4383=) c.13172G= (p.Arg4391=) c.13226G= (p.Arg4409=) c.13118G= (p.Arg4373=) c.13295G= (p.Arg4432=) c.13283G= (p.Arg4428=) c.13640G= (p.Arg4547=) c.13241G= (p.Arg4414=) c.13229G= (p.Arg4410=) c.13187G= (p.Arg4396=) c.13163G= (p.Arg4388=) c.13133G= (p.Arg4378=) c.13310G= (p.Arg4437=) c.13160G= (p.Arg4387=) c.9860G= (p.Arg3287=) | |
| 8 | g.143916607C>G | CA372475956 | PLEC | c.13346G>C (p.Arg4449Pro) c.13265G>C (p.Arg4422Pro) c.12932G>C (p.Arg4311Pro) c.13145G>C (p.Arg4382Pro) c.13214G>C (p.Arg4405Pro) c.9914G>C (p.Arg3305Pro) c.13625G>C (p.Arg4542Pro) c.13148G>C (p.Arg4383Pro) c.13172G>C (p.Arg4391Pro) c.13226G>C (p.Arg4409Pro) c.13118G>C (p.Arg4373Pro) c.13295G>C (p.Arg4432Pro) c.13283G>C (p.Arg4428Pro) c.13640G>C (p.Arg4547Pro) c.13241G>C (p.Arg4414Pro) c.13229G>C (p.Arg4410Pro) c.13187G>C (p.Arg4396Pro) c.13163G>C (p.Arg4388Pro) c.13133G>C (p.Arg4378Pro) c.13310G>C (p.Arg4437Pro) c.13160G>C (p.Arg4387Pro) c.9860G>C (p.Arg3287Pro) | |
| 8 | g.143916607C>T | CA372475958 | PLEC | c.13346G>A (p.Arg4449His) c.13265G>A (p.Arg4422His) c.12932G>A (p.Arg4311His) c.13145G>A (p.Arg4382His) c.13214G>A (p.Arg4405His) c.9914G>A (p.Arg3305His) c.13625G>A (p.Arg4542His) c.13148G>A (p.Arg4383His) c.13172G>A (p.Arg4391His) c.13226G>A (p.Arg4409His) c.13118G>A (p.Arg4373His) c.13295G>A (p.Arg4432His) c.13283G>A (p.Arg4428His) c.13640G>A (p.Arg4547His) c.13241G>A (p.Arg4414His) c.13229G>A (p.Arg4410His) c.13187G>A (p.Arg4396His) c.13163G>A (p.Arg4388His) c.13133G>A (p.Arg4378His) c.13310G>A (p.Arg4437His) c.13160G>A (p.Arg4387His) c.9860G>A (p.Arg3287His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143916608G>A | CA4923881 | PLEC | c.13345C>T (p.Arg4449Cys) c.13264C>T (p.Arg4422Cys) c.12931C>T (p.Arg4311Cys) c.13144C>T (p.Arg4382Cys) c.13213C>T (p.Arg4405Cys) c.9913C>T (p.Arg3305Cys) c.13624C>T (p.Arg4542Cys) c.13147C>T (p.Arg4383Cys) c.13171C>T (p.Arg4391Cys) c.13225C>T (p.Arg4409Cys) c.13117C>T (p.Arg4373Cys) c.13294C>T (p.Arg4432Cys) c.13282C>T (p.Arg4428Cys) c.13639C>T (p.Arg4547Cys) c.13240C>T (p.Arg4414Cys) c.13228C>T (p.Arg4410Cys) c.13186C>T (p.Arg4396Cys) c.13162C>T (p.Arg4388Cys) c.13132C>T (p.Arg4378Cys) c.13309C>T (p.Arg4437Cys) c.13159C>T (p.Arg4387Cys) c.9859C>T (p.Arg3287Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143916608G>C | CA372475960 | PLEC | c.13345C>G (p.Arg4449Gly) c.13264C>G (p.Arg4422Gly) c.12931C>G (p.Arg4311Gly) c.13144C>G (p.Arg4382Gly) c.13213C>G (p.Arg4405Gly) c.9913C>G (p.Arg3305Gly) c.13624C>G (p.Arg4542Gly) c.13147C>G (p.Arg4383Gly) c.13171C>G (p.Arg4391Gly) c.13225C>G (p.Arg4409Gly) c.13117C>G (p.Arg4373Gly) c.13294C>G (p.Arg4432Gly) c.13282C>G (p.Arg4428Gly) c.13639C>G (p.Arg4547Gly) c.13240C>G (p.Arg4414Gly) c.13228C>G (p.Arg4410Gly) c.13186C>G (p.Arg4396Gly) c.13162C>G (p.Arg4388Gly) c.13132C>G (p.Arg4378Gly) c.13309C>G (p.Arg4437Gly) c.13159C>G (p.Arg4387Gly) c.9859C>G (p.Arg3287Gly) | |
| 8 | g.143916608G= | CA1826037467 | PLEC | c.13345C= (p.Arg4449=) c.13264C= (p.Arg4422=) c.12931C= (p.Arg4311=) c.13144C= (p.Arg4382=) c.13213C= (p.Arg4405=) c.9913C= (p.Arg3305=) c.13624C= (p.Arg4542=) c.13147C= (p.Arg4383=) c.13171C= (p.Arg4391=) c.13225C= (p.Arg4409=) c.13117C= (p.Arg4373=) c.13294C= (p.Arg4432=) c.13282C= (p.Arg4428=) c.13639C= (p.Arg4547=) c.13240C= (p.Arg4414=) c.13228C= (p.Arg4410=) c.13186C= (p.Arg4396=) c.13162C= (p.Arg4388=) c.13132C= (p.Arg4378=) c.13309C= (p.Arg4437=) c.13159C= (p.Arg4387=) c.9859C= (p.Arg3287=) | |
| 8 | g.143916608G>T | CA372475962 | PLEC | c.13345C>A (p.Arg4449Ser) c.13264C>A (p.Arg4422Ser) c.12931C>A (p.Arg4311Ser) c.13144C>A (p.Arg4382Ser) c.13213C>A (p.Arg4405Ser) c.9913C>A (p.Arg3305Ser) c.13624C>A (p.Arg4542Ser) c.13147C>A (p.Arg4383Ser) c.13171C>A (p.Arg4391Ser) c.13225C>A (p.Arg4409Ser) c.13117C>A (p.Arg4373Ser) c.13294C>A (p.Arg4432Ser) c.13282C>A (p.Arg4428Ser) c.13639C>A (p.Arg4547Ser) c.13240C>A (p.Arg4414Ser) c.13228C>A (p.Arg4410Ser) c.13186C>A (p.Arg4396Ser) c.13162C>A (p.Arg4388Ser) c.13132C>A (p.Arg4378Ser) c.13309C>A (p.Arg4437Ser) c.13159C>A (p.Arg4387Ser) c.9859C>A (p.Arg3287Ser) | |
| 8 | g.143916609G>A | CA4923882 | PLEC | c.13344C>T (p.Gly4448=) c.13263C>T (p.Gly4421=) c.12930C>T (p.Gly4310=) c.13143C>T (p.Gly4381=) c.13212C>T (p.Gly4404=) c.9912C>T (p.Gly3304=) c.13623C>T (p.Gly4541=) c.13146C>T (p.Gly4382=) c.13170C>T (p.Gly4390=) c.13224C>T (p.Gly4408=) c.13116C>T (p.Gly4372=) c.13293C>T (p.Gly4431=) c.13281C>T (p.Gly4427=) c.13638C>T (p.Gly4546=) c.13239C>T (p.Gly4413=) c.13227C>T (p.Gly4409=) c.13185C>T (p.Gly4395=) c.13161C>T (p.Gly4387=) c.13131C>T (p.Gly4377=) c.13308C>T (p.Gly4436=) c.13158C>T (p.Gly4386=) c.9858C>T (p.Gly3286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916609G>C | CA463525836 | PLEC | c.13344C>G (p.Gly4448=) c.13263C>G (p.Gly4421=) c.12930C>G (p.Gly4310=) c.13143C>G (p.Gly4381=) c.13212C>G (p.Gly4404=) c.9912C>G (p.Gly3304=) c.13623C>G (p.Gly4541=) c.13146C>G (p.Gly4382=) c.13170C>G (p.Gly4390=) c.13224C>G (p.Gly4408=) c.13116C>G (p.Gly4372=) c.13293C>G (p.Gly4431=) c.13281C>G (p.Gly4427=) c.13638C>G (p.Gly4546=) c.13239C>G (p.Gly4413=) c.13227C>G (p.Gly4409=) c.13185C>G (p.Gly4395=) c.13161C>G (p.Gly4387=) c.13131C>G (p.Gly4377=) c.13308C>G (p.Gly4436=) c.13158C>G (p.Gly4386=) c.9858C>G (p.Gly3286=) | |
| 8 | g.143916609G= | CA1826037469 | PLEC | c.13344C= (p.Gly4448=) c.13263C= (p.Gly4421=) c.12930C= (p.Gly4310=) c.13143C= (p.Gly4381=) c.13212C= (p.Gly4404=) c.9912C= (p.Gly3304=) c.13623C= (p.Gly4541=) c.13146C= (p.Gly4382=) c.13170C= (p.Gly4390=) c.13224C= (p.Gly4408=) c.13116C= (p.Gly4372=) c.13293C= (p.Gly4431=) c.13281C= (p.Gly4427=) c.13638C= (p.Gly4546=) c.13239C= (p.Gly4413=) c.13227C= (p.Gly4409=) c.13185C= (p.Gly4395=) c.13161C= (p.Gly4387=) c.13131C= (p.Gly4377=) c.13308C= (p.Gly4436=) c.13158C= (p.Gly4386=) c.9858C= (p.Gly3286=) | |
| 8 | g.143916609G>T | CA463525835 | PLEC | c.13344C>A (p.Gly4448=) c.13263C>A (p.Gly4421=) c.12930C>A (p.Gly4310=) c.13143C>A (p.Gly4381=) c.13212C>A (p.Gly4404=) c.9912C>A (p.Gly3304=) c.13623C>A (p.Gly4541=) c.13146C>A (p.Gly4382=) c.13170C>A (p.Gly4390=) c.13224C>A (p.Gly4408=) c.13116C>A (p.Gly4372=) c.13293C>A (p.Gly4431=) c.13281C>A (p.Gly4427=) c.13638C>A (p.Gly4546=) c.13239C>A (p.Gly4413=) c.13227C>A (p.Gly4409=) c.13185C>A (p.Gly4395=) c.13161C>A (p.Gly4387=) c.13131C>A (p.Gly4377=) c.13308C>A (p.Gly4436=) c.13158C>A (p.Gly4386=) c.9858C>A (p.Gly3286=) | |
| 8 | g.143916610C>A | CA372475968 | PLEC | c.13343G>T (p.Gly4448Val) c.13262G>T (p.Gly4421Val) c.12929G>T (p.Gly4310Val) c.13142G>T (p.Gly4381Val) c.13211G>T (p.Gly4404Val) c.9911G>T (p.Gly3304Val) c.13622G>T (p.Gly4541Val) c.13145G>T (p.Gly4382Val) c.13169G>T (p.Gly4390Val) c.13223G>T (p.Gly4408Val) c.13115G>T (p.Gly4372Val) c.13292G>T (p.Gly4431Val) c.13280G>T (p.Gly4427Val) c.13637G>T (p.Gly4546Val) c.13238G>T (p.Gly4413Val) c.13226G>T (p.Gly4409Val) c.13184G>T (p.Gly4395Val) c.13160G>T (p.Gly4387Val) c.13130G>T (p.Gly4377Val) c.13307G>T (p.Gly4436Val) c.13157G>T (p.Gly4386Val) c.9857G>T (p.Gly3286Val) | |
| 8 | g.143916610C>G | CA372475966 | PLEC | c.13343G>C (p.Gly4448Ala) c.13262G>C (p.Gly4421Ala) c.12929G>C (p.Gly4310Ala) c.13142G>C (p.Gly4381Ala) c.13211G>C (p.Gly4404Ala) c.9911G>C (p.Gly3304Ala) c.13622G>C (p.Gly4541Ala) c.13145G>C (p.Gly4382Ala) c.13169G>C (p.Gly4390Ala) c.13223G>C (p.Gly4408Ala) c.13115G>C (p.Gly4372Ala) c.13292G>C (p.Gly4431Ala) c.13280G>C (p.Gly4427Ala) c.13637G>C (p.Gly4546Ala) c.13238G>C (p.Gly4413Ala) c.13226G>C (p.Gly4409Ala) c.13184G>C (p.Gly4395Ala) c.13160G>C (p.Gly4387Ala) c.13130G>C (p.Gly4377Ala) c.13307G>C (p.Gly4436Ala) c.13157G>C (p.Gly4386Ala) c.9857G>C (p.Gly3286Ala) | ClinVar |
| 8 | g.143916610C>T | CA372475964 | PLEC | c.13343G>A (p.Gly4448Asp) c.13262G>A (p.Gly4421Asp) c.12929G>A (p.Gly4310Asp) c.13142G>A (p.Gly4381Asp) c.13211G>A (p.Gly4404Asp) c.9911G>A (p.Gly3304Asp) c.13622G>A (p.Gly4541Asp) c.13145G>A (p.Gly4382Asp) c.13169G>A (p.Gly4390Asp) c.13223G>A (p.Gly4408Asp) c.13115G>A (p.Gly4372Asp) c.13292G>A (p.Gly4431Asp) c.13280G>A (p.Gly4427Asp) c.13637G>A (p.Gly4546Asp) c.13238G>A (p.Gly4413Asp) c.13226G>A (p.Gly4409Asp) c.13184G>A (p.Gly4395Asp) c.13160G>A (p.Gly4387Asp) c.13130G>A (p.Gly4377Asp) c.13307G>A (p.Gly4436Asp) c.13157G>A (p.Gly4386Asp) c.9857G>A (p.Gly3286Asp) | |
| 8 | g.143916611C>A | CA372475969 | PLEC | c.13342G>T (p.Gly4448Cys) c.13261G>T (p.Gly4421Cys) c.12928G>T (p.Gly4310Cys) c.13141G>T (p.Gly4381Cys) c.13210G>T (p.Gly4404Cys) c.9910G>T (p.Gly3304Cys) c.13621G>T (p.Gly4541Cys) c.13144G>T (p.Gly4382Cys) c.13168G>T (p.Gly4390Cys) c.13222G>T (p.Gly4408Cys) c.13114G>T (p.Gly4372Cys) c.13291G>T (p.Gly4431Cys) c.13279G>T (p.Gly4427Cys) c.13636G>T (p.Gly4546Cys) c.13237G>T (p.Gly4413Cys) c.13225G>T (p.Gly4409Cys) c.13183G>T (p.Gly4395Cys) c.13159G>T (p.Gly4387Cys) c.13129G>T (p.Gly4377Cys) c.13306G>T (p.Gly4436Cys) c.13156G>T (p.Gly4386Cys) c.9856G>T (p.Gly3286Cys) | |
| 8 | g.143916611C= | CA1826037473 | PLEC | c.13342G= (p.Gly4448=) c.13261G= (p.Gly4421=) c.12928G= (p.Gly4310=) c.13141G= (p.Gly4381=) c.13210G= (p.Gly4404=) c.9910G= (p.Gly3304=) c.13621G= (p.Gly4541=) c.13144G= (p.Gly4382=) c.13168G= (p.Gly4390=) c.13222G= (p.Gly4408=) c.13114G= (p.Gly4372=) c.13291G= (p.Gly4431=) c.13279G= (p.Gly4427=) c.13636G= (p.Gly4546=) c.13237G= (p.Gly4413=) c.13225G= (p.Gly4409=) c.13183G= (p.Gly4395=) c.13159G= (p.Gly4387=) c.13129G= (p.Gly4377=) c.13306G= (p.Gly4436=) c.13156G= (p.Gly4386=) c.9856G= (p.Gly3286=) | |
| 8 | g.143916611C>G | CA372475972 | PLEC | c.13342G>C (p.Gly4448Arg) c.13261G>C (p.Gly4421Arg) c.12928G>C (p.Gly4310Arg) c.13141G>C (p.Gly4381Arg) c.13210G>C (p.Gly4404Arg) c.9910G>C (p.Gly3304Arg) c.13621G>C (p.Gly4541Arg) c.13144G>C (p.Gly4382Arg) c.13168G>C (p.Gly4390Arg) c.13222G>C (p.Gly4408Arg) c.13114G>C (p.Gly4372Arg) c.13291G>C (p.Gly4431Arg) c.13279G>C (p.Gly4427Arg) c.13636G>C (p.Gly4546Arg) c.13237G>C (p.Gly4413Arg) c.13225G>C (p.Gly4409Arg) c.13183G>C (p.Gly4395Arg) c.13159G>C (p.Gly4387Arg) c.13129G>C (p.Gly4377Arg) c.13306G>C (p.Gly4436Arg) c.13156G>C (p.Gly4386Arg) c.9856G>C (p.Gly3286Arg) | |
| 8 | g.143916611C>T | CA372475970 | PLEC | c.13342G>A (p.Gly4448Ser) c.13261G>A (p.Gly4421Ser) c.12928G>A (p.Gly4310Ser) c.13141G>A (p.Gly4381Ser) c.13210G>A (p.Gly4404Ser) c.9910G>A (p.Gly3304Ser) c.13621G>A (p.Gly4541Ser) c.13144G>A (p.Gly4382Ser) c.13168G>A (p.Gly4390Ser) c.13222G>A (p.Gly4408Ser) c.13114G>A (p.Gly4372Ser) c.13291G>A (p.Gly4431Ser) c.13279G>A (p.Gly4427Ser) c.13636G>A (p.Gly4546Ser) c.13237G>A (p.Gly4413Ser) c.13225G>A (p.Gly4409Ser) c.13183G>A (p.Gly4395Ser) c.13159G>A (p.Gly4387Ser) c.13129G>A (p.Gly4377Ser) c.13306G>A (p.Gly4436Ser) c.13156G>A (p.Gly4386Ser) c.9856G>A (p.Gly3286Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.143916612C>A | CA463525838 | PLEC | c.13341G>T (p.Pro4447=) c.13260G>T (p.Pro4420=) c.12927G>T (p.Pro4309=) c.13140G>T (p.Pro4380=) c.13209G>T (p.Pro4403=) c.9909G>T (p.Pro3303=) c.13620G>T (p.Pro4540=) c.13143G>T (p.Pro4381=) c.13167G>T (p.Pro4389=) c.13221G>T (p.Pro4407=) c.13113G>T (p.Pro4371=) c.13290G>T (p.Pro4430=) c.13278G>T (p.Pro4426=) c.13635G>T (p.Pro4545=) c.13236G>T (p.Pro4412=) c.13224G>T (p.Pro4408=) c.13182G>T (p.Pro4394=) c.13158G>T (p.Pro4386=) c.13128G>T (p.Pro4376=) c.13305G>T (p.Pro4435=) c.13155G>T (p.Pro4385=) c.9855G>T (p.Pro3285=) | |
| 8 | g.143916612C= | CA1826037478 | PLEC | c.13341G= (p.Pro4447=) c.13260G= (p.Pro4420=) c.12927G= (p.Pro4309=) c.13140G= (p.Pro4380=) c.13209G= (p.Pro4403=) c.9909G= (p.Pro3303=) c.13620G= (p.Pro4540=) c.13143G= (p.Pro4381=) c.13167G= (p.Pro4389=) c.13221G= (p.Pro4407=) c.13113G= (p.Pro4371=) c.13290G= (p.Pro4430=) c.13278G= (p.Pro4426=) c.13635G= (p.Pro4545=) c.13236G= (p.Pro4412=) c.13224G= (p.Pro4408=) c.13182G= (p.Pro4394=) c.13158G= (p.Pro4386=) c.13128G= (p.Pro4376=) c.13305G= (p.Pro4435=) c.13155G= (p.Pro4385=) c.9855G= (p.Pro3285=) | |
| 8 | g.143916612C>G | CA463525840 | PLEC | c.13341G>C (p.Pro4447=) c.13260G>C (p.Pro4420=) c.12927G>C (p.Pro4309=) c.13140G>C (p.Pro4380=) c.13209G>C (p.Pro4403=) c.9909G>C (p.Pro3303=) c.13620G>C (p.Pro4540=) c.13143G>C (p.Pro4381=) c.13167G>C (p.Pro4389=) c.13221G>C (p.Pro4407=) c.13113G>C (p.Pro4371=) c.13290G>C (p.Pro4430=) c.13278G>C (p.Pro4426=) c.13635G>C (p.Pro4545=) c.13236G>C (p.Pro4412=) c.13224G>C (p.Pro4408=) c.13182G>C (p.Pro4394=) c.13158G>C (p.Pro4386=) c.13128G>C (p.Pro4376=) c.13305G>C (p.Pro4435=) c.13155G>C (p.Pro4385=) c.9855G>C (p.Pro3285=) | |
| 8 | g.143916612C>T | CA4923883 | PLEC | c.13341G>A (p.Pro4447=) c.13260G>A (p.Pro4420=) c.12927G>A (p.Pro4309=) c.13140G>A (p.Pro4380=) c.13209G>A (p.Pro4403=) c.9909G>A (p.Pro3303=) c.13620G>A (p.Pro4540=) c.13143G>A (p.Pro4381=) c.13167G>A (p.Pro4389=) c.13221G>A (p.Pro4407=) c.13113G>A (p.Pro4371=) c.13290G>A (p.Pro4430=) c.13278G>A (p.Pro4426=) c.13635G>A (p.Pro4545=) c.13236G>A (p.Pro4412=) c.13224G>A (p.Pro4408=) c.13182G>A (p.Pro4394=) c.13158G>A (p.Pro4386=) c.13128G>A (p.Pro4376=) c.13305G>A (p.Pro4435=) c.13155G>A (p.Pro4385=) c.9855G>A (p.Pro3285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916613G>A | CA4923885 | PLEC | c.13340C>T (p.Pro4447Leu) c.13259C>T (p.Pro4420Leu) c.12926C>T (p.Pro4309Leu) c.13139C>T (p.Pro4380Leu) c.13208C>T (p.Pro4403Leu) c.9908C>T (p.Pro3303Leu) c.13619C>T (p.Pro4540Leu) c.13142C>T (p.Pro4381Leu) c.13166C>T (p.Pro4389Leu) c.13220C>T (p.Pro4407Leu) c.13112C>T (p.Pro4371Leu) c.13289C>T (p.Pro4430Leu) c.13277C>T (p.Pro4426Leu) c.13634C>T (p.Pro4545Leu) c.13235C>T (p.Pro4412Leu) c.13223C>T (p.Pro4408Leu) c.13181C>T (p.Pro4394Leu) c.13157C>T (p.Pro4386Leu) c.13127C>T (p.Pro4376Leu) c.13304C>T (p.Pro4435Leu) c.13154C>T (p.Pro4385Leu) c.9854C>T (p.Pro3285Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916613G>C | CA372475975 | PLEC | c.13340C>G (p.Pro4447Arg) c.13259C>G (p.Pro4420Arg) c.12926C>G (p.Pro4309Arg) c.13139C>G (p.Pro4380Arg) c.13208C>G (p.Pro4403Arg) c.9908C>G (p.Pro3303Arg) c.13619C>G (p.Pro4540Arg) c.13142C>G (p.Pro4381Arg) c.13166C>G (p.Pro4389Arg) c.13220C>G (p.Pro4407Arg) c.13112C>G (p.Pro4371Arg) c.13289C>G (p.Pro4430Arg) c.13277C>G (p.Pro4426Arg) c.13634C>G (p.Pro4545Arg) c.13235C>G (p.Pro4412Arg) c.13223C>G (p.Pro4408Arg) c.13181C>G (p.Pro4394Arg) c.13157C>G (p.Pro4386Arg) c.13127C>G (p.Pro4376Arg) c.13304C>G (p.Pro4435Arg) c.13154C>G (p.Pro4385Arg) c.9854C>G (p.Pro3285Arg) | |
| 8 | g.143916613G= | CA1826037483 | PLEC | c.13340C= (p.Pro4447=) c.13259C= (p.Pro4420=) c.12926C= (p.Pro4309=) c.13139C= (p.Pro4380=) c.13208C= (p.Pro4403=) c.9908C= (p.Pro3303=) c.13619C= (p.Pro4540=) c.13142C= (p.Pro4381=) c.13166C= (p.Pro4389=) c.13220C= (p.Pro4407=) c.13112C= (p.Pro4371=) c.13289C= (p.Pro4430=) c.13277C= (p.Pro4426=) c.13634C= (p.Pro4545=) c.13235C= (p.Pro4412=) c.13223C= (p.Pro4408=) c.13181C= (p.Pro4394=) c.13157C= (p.Pro4386=) c.13127C= (p.Pro4376=) c.13304C= (p.Pro4435=) c.13154C= (p.Pro4385=) c.9854C= (p.Pro3285=) | |
| 8 | g.143916613G>T | CA4923884 | PLEC | c.13340C>A (p.Pro4447Gln) c.13259C>A (p.Pro4420Gln) c.12926C>A (p.Pro4309Gln) c.13139C>A (p.Pro4380Gln) c.13208C>A (p.Pro4403Gln) c.9908C>A (p.Pro3303Gln) c.13619C>A (p.Pro4540Gln) c.13142C>A (p.Pro4381Gln) c.13166C>A (p.Pro4389Gln) c.13220C>A (p.Pro4407Gln) c.13112C>A (p.Pro4371Gln) c.13289C>A (p.Pro4430Gln) c.13277C>A (p.Pro4426Gln) c.13634C>A (p.Pro4545Gln) c.13235C>A (p.Pro4412Gln) c.13223C>A (p.Pro4408Gln) c.13181C>A (p.Pro4394Gln) c.13157C>A (p.Pro4386Gln) c.13127C>A (p.Pro4376Gln) c.13304C>A (p.Pro4435Gln) c.13154C>A (p.Pro4385Gln) c.9854C>A (p.Pro3285Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916614G>A | CA372475979 | PLEC | c.13339C>T (p.Pro4447Ser) c.13258C>T (p.Pro4420Ser) c.12925C>T (p.Pro4309Ser) c.13138C>T (p.Pro4380Ser) c.13207C>T (p.Pro4403Ser) c.9907C>T (p.Pro3303Ser) c.13618C>T (p.Pro4540Ser) c.13141C>T (p.Pro4381Ser) c.13165C>T (p.Pro4389Ser) c.13219C>T (p.Pro4407Ser) c.13111C>T (p.Pro4371Ser) c.13288C>T (p.Pro4430Ser) c.13276C>T (p.Pro4426Ser) c.13633C>T (p.Pro4545Ser) c.13234C>T (p.Pro4412Ser) c.13222C>T (p.Pro4408Ser) c.13180C>T (p.Pro4394Ser) c.13156C>T (p.Pro4386Ser) c.13126C>T (p.Pro4376Ser) c.13303C>T (p.Pro4435Ser) c.13153C>T (p.Pro4385Ser) c.9853C>T (p.Pro3285Ser) | |
| 8 | g.143916614G>C | CA372475980 | PLEC | c.13339C>G (p.Pro4447Ala) c.13258C>G (p.Pro4420Ala) c.12925C>G (p.Pro4309Ala) c.13138C>G (p.Pro4380Ala) c.13207C>G (p.Pro4403Ala) c.9907C>G (p.Pro3303Ala) c.13618C>G (p.Pro4540Ala) c.13141C>G (p.Pro4381Ala) c.13165C>G (p.Pro4389Ala) c.13219C>G (p.Pro4407Ala) c.13111C>G (p.Pro4371Ala) c.13288C>G (p.Pro4430Ala) c.13276C>G (p.Pro4426Ala) c.13633C>G (p.Pro4545Ala) c.13234C>G (p.Pro4412Ala) c.13222C>G (p.Pro4408Ala) c.13180C>G (p.Pro4394Ala) c.13156C>G (p.Pro4386Ala) c.13126C>G (p.Pro4376Ala) c.13303C>G (p.Pro4435Ala) c.13153C>G (p.Pro4385Ala) c.9853C>G (p.Pro3285Ala) | |
| 8 | g.143916614G>T | CA372475983 | PLEC | c.13339C>A (p.Pro4447Thr) c.13258C>A (p.Pro4420Thr) c.12925C>A (p.Pro4309Thr) c.13138C>A (p.Pro4380Thr) c.13207C>A (p.Pro4403Thr) c.9907C>A (p.Pro3303Thr) c.13618C>A (p.Pro4540Thr) c.13141C>A (p.Pro4381Thr) c.13165C>A (p.Pro4389Thr) c.13219C>A (p.Pro4407Thr) c.13111C>A (p.Pro4371Thr) c.13288C>A (p.Pro4430Thr) c.13276C>A (p.Pro4426Thr) c.13633C>A (p.Pro4545Thr) c.13234C>A (p.Pro4412Thr) c.13222C>A (p.Pro4408Thr) c.13180C>A (p.Pro4394Thr) c.13156C>A (p.Pro4386Thr) c.13126C>A (p.Pro4376Thr) c.13303C>A (p.Pro4435Thr) c.13153C>A (p.Pro4385Thr) c.9853C>A (p.Pro3285Thr) | |
| 8 | g.143916615C>A | CA463525844 | PLEC | c.13338G>T (p.Thr4446=) c.13257G>T (p.Thr4419=) c.12924G>T (p.Thr4308=) c.13137G>T (p.Thr4379=) c.13206G>T (p.Thr4402=) c.9906G>T (p.Thr3302=) c.13617G>T (p.Thr4539=) c.13140G>T (p.Thr4380=) c.13164G>T (p.Thr4388=) c.13218G>T (p.Thr4406=) c.13110G>T (p.Thr4370=) c.13287G>T (p.Thr4429=) c.13275G>T (p.Thr4425=) c.13632G>T (p.Thr4544=) c.13233G>T (p.Thr4411=) c.13221G>T (p.Thr4407=) c.13179G>T (p.Thr4393=) c.13155G>T (p.Thr4385=) c.13125G>T (p.Thr4375=) c.13302G>T (p.Thr4434=) c.13152G>T (p.Thr4384=) c.9852G>T (p.Thr3284=) | dbSNP |
| 8 | g.143916615C= | CA1826037486 | PLEC | c.13338G= (p.Thr4446=) c.13257G= (p.Thr4419=) c.12924G= (p.Thr4308=) c.13137G= (p.Thr4379=) c.13206G= (p.Thr4402=) c.9906G= (p.Thr3302=) c.13617G= (p.Thr4539=) c.13140G= (p.Thr4380=) c.13164G= (p.Thr4388=) c.13218G= (p.Thr4406=) c.13110G= (p.Thr4370=) c.13287G= (p.Thr4429=) c.13275G= (p.Thr4425=) c.13632G= (p.Thr4544=) c.13233G= (p.Thr4411=) c.13221G= (p.Thr4407=) c.13179G= (p.Thr4393=) c.13155G= (p.Thr4385=) c.13125G= (p.Thr4375=) c.13302G= (p.Thr4434=) c.13152G= (p.Thr4384=) c.9852G= (p.Thr3284=) | |
| 8 | g.143916615C>G | CA463525845 | PLEC | c.13338G>C (p.Thr4446=) c.13257G>C (p.Thr4419=) c.12924G>C (p.Thr4308=) c.13137G>C (p.Thr4379=) c.13206G>C (p.Thr4402=) c.9906G>C (p.Thr3302=) c.13617G>C (p.Thr4539=) c.13140G>C (p.Thr4380=) c.13164G>C (p.Thr4388=) c.13218G>C (p.Thr4406=) c.13110G>C (p.Thr4370=) c.13287G>C (p.Thr4429=) c.13275G>C (p.Thr4425=) c.13632G>C (p.Thr4544=) c.13233G>C (p.Thr4411=) c.13221G>C (p.Thr4407=) c.13179G>C (p.Thr4393=) c.13155G>C (p.Thr4385=) c.13125G>C (p.Thr4375=) c.13302G>C (p.Thr4434=) c.13152G>C (p.Thr4384=) c.9852G>C (p.Thr3284=) | |
| 8 | g.143916615C>T | CA4923886 | PLEC | c.13338G>A (p.Thr4446=) c.13257G>A (p.Thr4419=) c.12924G>A (p.Thr4308=) c.13137G>A (p.Thr4379=) c.13206G>A (p.Thr4402=) c.9906G>A (p.Thr3302=) c.13617G>A (p.Thr4539=) c.13140G>A (p.Thr4380=) c.13164G>A (p.Thr4388=) c.13218G>A (p.Thr4406=) c.13110G>A (p.Thr4370=) c.13287G>A (p.Thr4429=) c.13275G>A (p.Thr4425=) c.13632G>A (p.Thr4544=) c.13233G>A (p.Thr4411=) c.13221G>A (p.Thr4407=) c.13179G>A (p.Thr4393=) c.13155G>A (p.Thr4385=) c.13125G>A (p.Thr4375=) c.13302G>A (p.Thr4434=) c.13152G>A (p.Thr4384=) c.9852G>A (p.Thr3284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916616G>A | CA154425 | PLEC | c.13337C>T (p.Thr4446Met) c.13256C>T (p.Thr4419Met) c.12923C>T (p.Thr4308Met) c.13136C>T (p.Thr4379Met) c.13205C>T (p.Thr4402Met) c.9905C>T (p.Thr3302Met) c.13616C>T (p.Thr4539Met) c.13139C>T (p.Thr4380Met) c.13163C>T (p.Thr4388Met) c.13217C>T (p.Thr4406Met) c.13109C>T (p.Thr4370Met) c.13286C>T (p.Thr4429Met) c.13274C>T (p.Thr4425Met) c.13631C>T (p.Thr4544Met) c.13232C>T (p.Thr4411Met) c.13220C>T (p.Thr4407Met) c.13178C>T (p.Thr4393Met) c.13154C>T (p.Thr4385Met) c.13124C>T (p.Thr4375Met) c.13301C>T (p.Thr4434Met) c.13151C>T (p.Thr4384Met) c.9851C>T (p.Thr3284Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916616G>C | CA187606731 | PLEC | c.13337C>G (p.Thr4446Arg) c.13256C>G (p.Thr4419Arg) c.12923C>G (p.Thr4308Arg) c.13136C>G (p.Thr4379Arg) c.13205C>G (p.Thr4402Arg) c.9905C>G (p.Thr3302Arg) c.13616C>G (p.Thr4539Arg) c.13139C>G (p.Thr4380Arg) c.13163C>G (p.Thr4388Arg) c.13217C>G (p.Thr4406Arg) c.13109C>G (p.Thr4370Arg) c.13286C>G (p.Thr4429Arg) c.13274C>G (p.Thr4425Arg) c.13631C>G (p.Thr4544Arg) c.13232C>G (p.Thr4411Arg) c.13220C>G (p.Thr4407Arg) c.13178C>G (p.Thr4393Arg) c.13154C>G (p.Thr4385Arg) c.13124C>G (p.Thr4375Arg) c.13301C>G (p.Thr4434Arg) c.13151C>G (p.Thr4384Arg) c.9851C>G (p.Thr3284Arg) | dbSNP |
| 8 | g.143916616G= | CA1826037489 | PLEC | c.13337C= (p.Thr4446=) c.13256C= (p.Thr4419=) c.12923C= (p.Thr4308=) c.13136C= (p.Thr4379=) c.13205C= (p.Thr4402=) c.9905C= (p.Thr3302=) c.13616C= (p.Thr4539=) c.13139C= (p.Thr4380=) c.13163C= (p.Thr4388=) c.13217C= (p.Thr4406=) c.13109C= (p.Thr4370=) c.13286C= (p.Thr4429=) c.13274C= (p.Thr4425=) c.13631C= (p.Thr4544=) c.13232C= (p.Thr4411=) c.13220C= (p.Thr4407=) c.13178C= (p.Thr4393=) c.13154C= (p.Thr4385=) c.13124C= (p.Thr4375=) c.13301C= (p.Thr4434=) c.13151C= (p.Thr4384=) c.9851C= (p.Thr3284=) | |
| 8 | g.143916616G>T | CA372475988 | PLEC | c.13337C>A (p.Thr4446Lys) c.13256C>A (p.Thr4419Lys) c.12923C>A (p.Thr4308Lys) c.13136C>A (p.Thr4379Lys) c.13205C>A (p.Thr4402Lys) c.9905C>A (p.Thr3302Lys) c.13616C>A (p.Thr4539Lys) c.13139C>A (p.Thr4380Lys) c.13163C>A (p.Thr4388Lys) c.13217C>A (p.Thr4406Lys) c.13109C>A (p.Thr4370Lys) c.13286C>A (p.Thr4429Lys) c.13274C>A (p.Thr4425Lys) c.13631C>A (p.Thr4544Lys) c.13232C>A (p.Thr4411Lys) c.13220C>A (p.Thr4407Lys) c.13178C>A (p.Thr4393Lys) c.13154C>A (p.Thr4385Lys) c.13124C>A (p.Thr4375Lys) c.13301C>A (p.Thr4434Lys) c.13151C>A (p.Thr4384Lys) c.9851C>A (p.Thr3284Lys) | |
| 8 | g.143916617T>A | CA372475990 | PLEC | c.13336A>T (p.Thr4446Ser) c.13255A>T (p.Thr4419Ser) c.12922A>T (p.Thr4308Ser) c.13135A>T (p.Thr4379Ser) c.13204A>T (p.Thr4402Ser) c.9904A>T (p.Thr3302Ser) c.13615A>T (p.Thr4539Ser) c.13138A>T (p.Thr4380Ser) c.13162A>T (p.Thr4388Ser) c.13216A>T (p.Thr4406Ser) c.13108A>T (p.Thr4370Ser) c.13285A>T (p.Thr4429Ser) c.13273A>T (p.Thr4425Ser) c.13630A>T (p.Thr4544Ser) c.13231A>T (p.Thr4411Ser) c.13219A>T (p.Thr4407Ser) c.13177A>T (p.Thr4393Ser) c.13153A>T (p.Thr4385Ser) c.13123A>T (p.Thr4375Ser) c.13300A>T (p.Thr4434Ser) c.13150A>T (p.Thr4384Ser) c.9850A>T (p.Thr3284Ser) | |
| 8 | g.143916617T>C | CA372475992 | PLEC | c.13336A>G (p.Thr4446Ala) c.13255A>G (p.Thr4419Ala) c.12922A>G (p.Thr4308Ala) c.13135A>G (p.Thr4379Ala) c.13204A>G (p.Thr4402Ala) c.9904A>G (p.Thr3302Ala) c.13615A>G (p.Thr4539Ala) c.13138A>G (p.Thr4380Ala) c.13162A>G (p.Thr4388Ala) c.13216A>G (p.Thr4406Ala) c.13108A>G (p.Thr4370Ala) c.13285A>G (p.Thr4429Ala) c.13273A>G (p.Thr4425Ala) c.13630A>G (p.Thr4544Ala) c.13231A>G (p.Thr4411Ala) c.13219A>G (p.Thr4407Ala) c.13177A>G (p.Thr4393Ala) c.13153A>G (p.Thr4385Ala) c.13123A>G (p.Thr4375Ala) c.13300A>G (p.Thr4434Ala) c.13150A>G (p.Thr4384Ala) c.9850A>G (p.Thr3284Ala) | |
| 8 | g.143916617T>G | CA372475994 | PLEC | c.13336A>C (p.Thr4446Pro) c.13255A>C (p.Thr4419Pro) c.12922A>C (p.Thr4308Pro) c.13135A>C (p.Thr4379Pro) c.13204A>C (p.Thr4402Pro) c.9904A>C (p.Thr3302Pro) c.13615A>C (p.Thr4539Pro) c.13138A>C (p.Thr4380Pro) c.13162A>C (p.Thr4388Pro) c.13216A>C (p.Thr4406Pro) c.13108A>C (p.Thr4370Pro) c.13285A>C (p.Thr4429Pro) c.13273A>C (p.Thr4425Pro) c.13630A>C (p.Thr4544Pro) c.13231A>C (p.Thr4411Pro) c.13219A>C (p.Thr4407Pro) c.13177A>C (p.Thr4393Pro) c.13153A>C (p.Thr4385Pro) c.13123A>C (p.Thr4375Pro) c.13300A>C (p.Thr4434Pro) c.13150A>C (p.Thr4384Pro) c.9850A>C (p.Thr3284Pro) | |
| 8 | g.143916618G>A | CA463525848 | PLEC | c.13335C>T (p.Asp4445=) c.13254C>T (p.Asp4418=) c.12921C>T (p.Asp4307=) c.13134C>T (p.Asp4378=) c.13203C>T (p.Asp4401=) c.9903C>T (p.Asp3301=) c.13614C>T (p.Asp4538=) c.13137C>T (p.Asp4379=) c.13161C>T (p.Asp4387=) c.13215C>T (p.Asp4405=) c.13107C>T (p.Asp4369=) c.13284C>T (p.Asp4428=) c.13272C>T (p.Asp4424=) c.13629C>T (p.Asp4543=) c.13230C>T (p.Asp4410=) c.13218C>T (p.Asp4406=) c.13176C>T (p.Asp4392=) c.13152C>T (p.Asp4384=) c.13122C>T (p.Asp4374=) c.13299C>T (p.Asp4433=) c.13149C>T (p.Asp4383=) c.9849C>T (p.Asp3283=) | |
| 8 | g.143916618G>C | CA372475997 | PLEC | c.13335C>G (p.Asp4445Glu) c.13254C>G (p.Asp4418Glu) c.12921C>G (p.Asp4307Glu) c.13134C>G (p.Asp4378Glu) c.13203C>G (p.Asp4401Glu) c.9903C>G (p.Asp3301Glu) c.13614C>G (p.Asp4538Glu) c.13137C>G (p.Asp4379Glu) c.13161C>G (p.Asp4387Glu) c.13215C>G (p.Asp4405Glu) c.13107C>G (p.Asp4369Glu) c.13284C>G (p.Asp4428Glu) c.13272C>G (p.Asp4424Glu) c.13629C>G (p.Asp4543Glu) c.13230C>G (p.Asp4410Glu) c.13218C>G (p.Asp4406Glu) c.13176C>G (p.Asp4392Glu) c.13152C>G (p.Asp4384Glu) c.13122C>G (p.Asp4374Glu) c.13299C>G (p.Asp4433Glu) c.13149C>G (p.Asp4383Glu) c.9849C>G (p.Asp3283Glu) | |
| 8 | g.143916618G>T | CA372475995 | PLEC | c.13335C>A (p.Asp4445Glu) c.13254C>A (p.Asp4418Glu) c.12921C>A (p.Asp4307Glu) c.13134C>A (p.Asp4378Glu) c.13203C>A (p.Asp4401Glu) c.9903C>A (p.Asp3301Glu) c.13614C>A (p.Asp4538Glu) c.13137C>A (p.Asp4379Glu) c.13161C>A (p.Asp4387Glu) c.13215C>A (p.Asp4405Glu) c.13107C>A (p.Asp4369Glu) c.13284C>A (p.Asp4428Glu) c.13272C>A (p.Asp4424Glu) c.13629C>A (p.Asp4543Glu) c.13230C>A (p.Asp4410Glu) c.13218C>A (p.Asp4406Glu) c.13176C>A (p.Asp4392Glu) c.13152C>A (p.Asp4384Glu) c.13122C>A (p.Asp4374Glu) c.13299C>A (p.Asp4433Glu) c.13149C>A (p.Asp4383Glu) c.9849C>A (p.Asp3283Glu) | |
| 8 | g.143916619T>A | CA372475999 | PLEC | c.13334A>T (p.Asp4445Val) c.13253A>T (p.Asp4418Val) c.12920A>T (p.Asp4307Val) c.13133A>T (p.Asp4378Val) c.13202A>T (p.Asp4401Val) c.9902A>T (p.Asp3301Val) c.13613A>T (p.Asp4538Val) c.13136A>T (p.Asp4379Val) c.13160A>T (p.Asp4387Val) c.13214A>T (p.Asp4405Val) c.13106A>T (p.Asp4369Val) c.13283A>T (p.Asp4428Val) c.13271A>T (p.Asp4424Val) c.13628A>T (p.Asp4543Val) c.13229A>T (p.Asp4410Val) c.13217A>T (p.Asp4406Val) c.13175A>T (p.Asp4392Val) c.13151A>T (p.Asp4384Val) c.13121A>T (p.Asp4374Val) c.13298A>T (p.Asp4433Val) c.13148A>T (p.Asp4383Val) c.9848A>T (p.Asp3283Val) | |
| 8 | g.143916619T>C | CA372476000 | PLEC | c.13334A>G (p.Asp4445Gly) c.13253A>G (p.Asp4418Gly) c.12920A>G (p.Asp4307Gly) c.13133A>G (p.Asp4378Gly) c.13202A>G (p.Asp4401Gly) c.9902A>G (p.Asp3301Gly) c.13613A>G (p.Asp4538Gly) c.13136A>G (p.Asp4379Gly) c.13160A>G (p.Asp4387Gly) c.13214A>G (p.Asp4405Gly) c.13106A>G (p.Asp4369Gly) c.13283A>G (p.Asp4428Gly) c.13271A>G (p.Asp4424Gly) c.13628A>G (p.Asp4543Gly) c.13229A>G (p.Asp4410Gly) c.13217A>G (p.Asp4406Gly) c.13175A>G (p.Asp4392Gly) c.13151A>G (p.Asp4384Gly) c.13121A>G (p.Asp4374Gly) c.13298A>G (p.Asp4433Gly) c.13148A>G (p.Asp4383Gly) c.9848A>G (p.Asp3283Gly) | |
| 8 | g.143916619T>G | CA372476002 | PLEC | c.13334A>C (p.Asp4445Ala) c.13253A>C (p.Asp4418Ala) c.12920A>C (p.Asp4307Ala) c.13133A>C (p.Asp4378Ala) c.13202A>C (p.Asp4401Ala) c.9902A>C (p.Asp3301Ala) c.13613A>C (p.Asp4538Ala) c.13136A>C (p.Asp4379Ala) c.13160A>C (p.Asp4387Ala) c.13214A>C (p.Asp4405Ala) c.13106A>C (p.Asp4369Ala) c.13283A>C (p.Asp4428Ala) c.13271A>C (p.Asp4424Ala) c.13628A>C (p.Asp4543Ala) c.13229A>C (p.Asp4410Ala) c.13217A>C (p.Asp4406Ala) c.13175A>C (p.Asp4392Ala) c.13151A>C (p.Asp4384Ala) c.13121A>C (p.Asp4374Ala) c.13298A>C (p.Asp4433Ala) c.13148A>C (p.Asp4383Ala) c.9848A>C (p.Asp3283Ala) | |
| 8 | g.143916620C>A | CA4923888 | PLEC | c.13333G>T (p.Asp4445Tyr) c.13252G>T (p.Asp4418Tyr) c.12919G>T (p.Asp4307Tyr) c.13132G>T (p.Asp4378Tyr) c.13201G>T (p.Asp4401Tyr) c.9901G>T (p.Asp3301Tyr) c.13612G>T (p.Asp4538Tyr) c.13135G>T (p.Asp4379Tyr) c.13159G>T (p.Asp4387Tyr) c.13213G>T (p.Asp4405Tyr) c.13105G>T (p.Asp4369Tyr) c.13282G>T (p.Asp4428Tyr) c.13270G>T (p.Asp4424Tyr) c.13627G>T (p.Asp4543Tyr) c.13228G>T (p.Asp4410Tyr) c.13216G>T (p.Asp4406Tyr) c.13174G>T (p.Asp4392Tyr) c.13150G>T (p.Asp4384Tyr) c.13120G>T (p.Asp4374Tyr) c.13297G>T (p.Asp4433Tyr) c.13147G>T (p.Asp4383Tyr) c.9847G>T (p.Asp3283Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143916620C= | CA1826037493 | PLEC | c.13333G= (p.Asp4445=) c.13252G= (p.Asp4418=) c.12919G= (p.Asp4307=) c.13132G= (p.Asp4378=) c.13201G= (p.Asp4401=) c.9901G= (p.Asp3301=) c.13612G= (p.Asp4538=) c.13135G= (p.Asp4379=) c.13159G= (p.Asp4387=) c.13213G= (p.Asp4405=) c.13105G= (p.Asp4369=) c.13282G= (p.Asp4428=) c.13270G= (p.Asp4424=) c.13627G= (p.Asp4543=) c.13228G= (p.Asp4410=) c.13216G= (p.Asp4406=) c.13174G= (p.Asp4392=) c.13150G= (p.Asp4384=) c.13120G= (p.Asp4374=) c.13297G= (p.Asp4433=) c.13147G= (p.Asp4383=) c.9847G= (p.Asp3283=) | |
| 8 | g.143916620C>G | CA372476005 | PLEC | c.13333G>C (p.Asp4445His) c.13252G>C (p.Asp4418His) c.12919G>C (p.Asp4307His) c.13132G>C (p.Asp4378His) c.13201G>C (p.Asp4401His) c.9901G>C (p.Asp3301His) c.13612G>C (p.Asp4538His) c.13135G>C (p.Asp4379His) c.13159G>C (p.Asp4387His) c.13213G>C (p.Asp4405His) c.13105G>C (p.Asp4369His) c.13282G>C (p.Asp4428His) c.13270G>C (p.Asp4424His) c.13627G>C (p.Asp4543His) c.13228G>C (p.Asp4410His) c.13216G>C (p.Asp4406His) c.13174G>C (p.Asp4392His) c.13150G>C (p.Asp4384His) c.13120G>C (p.Asp4374His) c.13297G>C (p.Asp4433His) c.13147G>C (p.Asp4383His) c.9847G>C (p.Asp3283His) | |
| 8 | g.143916620C>T | CA4923887 | PLEC | c.13333G>A (p.Asp4445Asn) c.13252G>A (p.Asp4418Asn) c.12919G>A (p.Asp4307Asn) c.13132G>A (p.Asp4378Asn) c.13201G>A (p.Asp4401Asn) c.9901G>A (p.Asp3301Asn) c.13612G>A (p.Asp4538Asn) c.13135G>A (p.Asp4379Asn) c.13159G>A (p.Asp4387Asn) c.13213G>A (p.Asp4405Asn) c.13105G>A (p.Asp4369Asn) c.13282G>A (p.Asp4428Asn) c.13270G>A (p.Asp4424Asn) c.13627G>A (p.Asp4543Asn) c.13228G>A (p.Asp4410Asn) c.13216G>A (p.Asp4406Asn) c.13174G>A (p.Asp4392Asn) c.13150G>A (p.Asp4384Asn) c.13120G>A (p.Asp4374Asn) c.13297G>A (p.Asp4433Asn) c.13147G>A (p.Asp4383Asn) c.9847G>A (p.Asp3283Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916621G>A | CA4923889 | PLEC | c.13332C>T (p.Pro4444=) c.13251C>T (p.Pro4417=) c.12918C>T (p.Pro4306=) c.13131C>T (p.Pro4377=) c.13200C>T (p.Pro4400=) c.9900C>T (p.Pro3300=) c.13611C>T (p.Pro4537=) c.13134C>T (p.Pro4378=) c.13158C>T (p.Pro4386=) c.13212C>T (p.Pro4404=) c.13104C>T (p.Pro4368=) c.13281C>T (p.Pro4427=) c.13269C>T (p.Pro4423=) c.13626C>T (p.Pro4542=) c.13227C>T (p.Pro4409=) c.13215C>T (p.Pro4405=) c.13173C>T (p.Pro4391=) c.13149C>T (p.Pro4383=) c.13119C>T (p.Pro4373=) c.13296C>T (p.Pro4432=) c.13146C>T (p.Pro4382=) c.9846C>T (p.Pro3282=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143916621G>C | CA463525849 | PLEC | c.13332C>G (p.Pro4444=) c.13251C>G (p.Pro4417=) c.12918C>G (p.Pro4306=) c.13131C>G (p.Pro4377=) c.13200C>G (p.Pro4400=) c.9900C>G (p.Pro3300=) c.13611C>G (p.Pro4537=) c.13134C>G (p.Pro4378=) c.13158C>G (p.Pro4386=) c.13212C>G (p.Pro4404=) c.13104C>G (p.Pro4368=) c.13281C>G (p.Pro4427=) c.13269C>G (p.Pro4423=) c.13626C>G (p.Pro4542=) c.13227C>G (p.Pro4409=) c.13215C>G (p.Pro4405=) c.13173C>G (p.Pro4391=) c.13149C>G (p.Pro4383=) c.13119C>G (p.Pro4373=) c.13296C>G (p.Pro4432=) c.13146C>G (p.Pro4382=) c.9846C>G (p.Pro3282=) | |
| 8 | g.143916621G= | CA1826037496 | PLEC | c.13332C= (p.Pro4444=) c.13251C= (p.Pro4417=) c.12918C= (p.Pro4306=) c.13131C= (p.Pro4377=) c.13200C= (p.Pro4400=) c.9900C= (p.Pro3300=) c.13611C= (p.Pro4537=) c.13134C= (p.Pro4378=) c.13158C= (p.Pro4386=) c.13212C= (p.Pro4404=) c.13104C= (p.Pro4368=) c.13281C= (p.Pro4427=) c.13269C= (p.Pro4423=) c.13626C= (p.Pro4542=) c.13227C= (p.Pro4409=) c.13215C= (p.Pro4405=) c.13173C= (p.Pro4391=) c.13149C= (p.Pro4383=) c.13119C= (p.Pro4373=) c.13296C= (p.Pro4432=) c.13146C= (p.Pro4382=) c.9846C= (p.Pro3282=) | |
| 8 | g.143916621G>T | CA463525850 | PLEC | c.13332C>A (p.Pro4444=) c.13251C>A (p.Pro4417=) c.12918C>A (p.Pro4306=) c.13131C>A (p.Pro4377=) c.13200C>A (p.Pro4400=) c.9900C>A (p.Pro3300=) c.13611C>A (p.Pro4537=) c.13134C>A (p.Pro4378=) c.13158C>A (p.Pro4386=) c.13212C>A (p.Pro4404=) c.13104C>A (p.Pro4368=) c.13281C>A (p.Pro4427=) c.13269C>A (p.Pro4423=) c.13626C>A (p.Pro4542=) c.13227C>A (p.Pro4409=) c.13215C>A (p.Pro4405=) c.13173C>A (p.Pro4391=) c.13149C>A (p.Pro4383=) c.13119C>A (p.Pro4373=) c.13296C>A (p.Pro4432=) c.13146C>A (p.Pro4382=) c.9846C>A (p.Pro3282=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.143916622G>A | CA372476008 | PLEC | c.13331C>T (p.Pro4444Leu) c.13250C>T (p.Pro4417Leu) c.12917C>T (p.Pro4306Leu) c.13130C>T (p.Pro4377Leu) c.13199C>T (p.Pro4400Leu) c.9899C>T (p.Pro3300Leu) c.13610C>T (p.Pro4537Leu) c.13133C>T (p.Pro4378Leu) c.13157C>T (p.Pro4386Leu) c.13211C>T (p.Pro4404Leu) c.13103C>T (p.Pro4368Leu) c.13280C>T (p.Pro4427Leu) c.13268C>T (p.Pro4423Leu) c.13625C>T (p.Pro4542Leu) c.13226C>T (p.Pro4409Leu) c.13214C>T (p.Pro4405Leu) c.13172C>T (p.Pro4391Leu) c.13148C>T (p.Pro4383Leu) c.13118C>T (p.Pro4373Leu) c.13295C>T (p.Pro4432Leu) c.13145C>T (p.Pro4382Leu) c.9845C>T (p.Pro3282Leu) | |
| 8 | g.143916622G>C | CA372476010 | PLEC | c.13331C>G (p.Pro4444Arg) c.13250C>G (p.Pro4417Arg) c.12917C>G (p.Pro4306Arg) c.13130C>G (p.Pro4377Arg) c.13199C>G (p.Pro4400Arg) c.9899C>G (p.Pro3300Arg) c.13610C>G (p.Pro4537Arg) c.13133C>G (p.Pro4378Arg) c.13157C>G (p.Pro4386Arg) c.13211C>G (p.Pro4404Arg) c.13103C>G (p.Pro4368Arg) c.13280C>G (p.Pro4427Arg) c.13268C>G (p.Pro4423Arg) c.13625C>G (p.Pro4542Arg) c.13226C>G (p.Pro4409Arg) c.13214C>G (p.Pro4405Arg) c.13172C>G (p.Pro4391Arg) c.13148C>G (p.Pro4383Arg) c.13118C>G (p.Pro4373Arg) c.13295C>G (p.Pro4432Arg) c.13145C>G (p.Pro4382Arg) c.9845C>G (p.Pro3282Arg) | |
| 8 | g.143916622G>T | CA372476011 | PLEC | c.13331C>A (p.Pro4444His) c.13250C>A (p.Pro4417His) c.12917C>A (p.Pro4306His) c.13130C>A (p.Pro4377His) c.13199C>A (p.Pro4400His) c.9899C>A (p.Pro3300His) c.13610C>A (p.Pro4537His) c.13133C>A (p.Pro4378His) c.13157C>A (p.Pro4386His) c.13211C>A (p.Pro4404His) c.13103C>A (p.Pro4368His) c.13280C>A (p.Pro4427His) c.13268C>A (p.Pro4423His) c.13625C>A (p.Pro4542His) c.13226C>A (p.Pro4409His) c.13214C>A (p.Pro4405His) c.13172C>A (p.Pro4391His) c.13148C>A (p.Pro4383His) c.13118C>A (p.Pro4373His) c.13295C>A (p.Pro4432His) c.13145C>A (p.Pro4382His) c.9845C>A (p.Pro3282His) | |
| 8 | g.143916623G>A | CA372476013 | PLEC | c.13330C>T (p.Pro4444Ser) c.13249C>T (p.Pro4417Ser) c.12916C>T (p.Pro4306Ser) c.13129C>T (p.Pro4377Ser) c.13198C>T (p.Pro4400Ser) c.9898C>T (p.Pro3300Ser) c.13609C>T (p.Pro4537Ser) c.13132C>T (p.Pro4378Ser) c.13156C>T (p.Pro4386Ser) c.13210C>T (p.Pro4404Ser) c.13102C>T (p.Pro4368Ser) c.13279C>T (p.Pro4427Ser) c.13267C>T (p.Pro4423Ser) c.13624C>T (p.Pro4542Ser) c.13225C>T (p.Pro4409Ser) c.13213C>T (p.Pro4405Ser) c.13171C>T (p.Pro4391Ser) c.13147C>T (p.Pro4383Ser) c.13117C>T (p.Pro4373Ser) c.13294C>T (p.Pro4432Ser) c.13144C>T (p.Pro4382Ser) c.9844C>T (p.Pro3282Ser) | |
| 8 | g.143916623G>C | CA372476015 | PLEC | c.13330C>G (p.Pro4444Ala) c.13249C>G (p.Pro4417Ala) c.12916C>G (p.Pro4306Ala) c.13129C>G (p.Pro4377Ala) c.13198C>G (p.Pro4400Ala) c.9898C>G (p.Pro3300Ala) c.13609C>G (p.Pro4537Ala) c.13132C>G (p.Pro4378Ala) c.13156C>G (p.Pro4386Ala) c.13210C>G (p.Pro4404Ala) c.13102C>G (p.Pro4368Ala) c.13279C>G (p.Pro4427Ala) c.13267C>G (p.Pro4423Ala) c.13624C>G (p.Pro4542Ala) c.13225C>G (p.Pro4409Ala) c.13213C>G (p.Pro4405Ala) c.13171C>G (p.Pro4391Ala) c.13147C>G (p.Pro4383Ala) c.13117C>G (p.Pro4373Ala) c.13294C>G (p.Pro4432Ala) c.13144C>G (p.Pro4382Ala) c.9844C>G (p.Pro3282Ala) | |
| 8 | g.143916623G>T | CA372476017 | PLEC | c.13330C>A (p.Pro4444Thr) c.13249C>A (p.Pro4417Thr) c.12916C>A (p.Pro4306Thr) c.13129C>A (p.Pro4377Thr) c.13198C>A (p.Pro4400Thr) c.9898C>A (p.Pro3300Thr) c.13609C>A (p.Pro4537Thr) c.13132C>A (p.Pro4378Thr) c.13156C>A (p.Pro4386Thr) c.13210C>A (p.Pro4404Thr) c.13102C>A (p.Pro4368Thr) c.13279C>A (p.Pro4427Thr) c.13267C>A (p.Pro4423Thr) c.13624C>A (p.Pro4542Thr) c.13225C>A (p.Pro4409Thr) c.13213C>A (p.Pro4405Thr) c.13171C>A (p.Pro4391Thr) c.13147C>A (p.Pro4383Thr) c.13117C>A (p.Pro4373Thr) c.13294C>A (p.Pro4432Thr) c.13144C>A (p.Pro4382Thr) c.9844C>A (p.Pro3282Thr) | |
| 8 | g.143916624C>A | CA372476019 | PLEC | c.13329G>T (p.Glu4443Asp) c.13248G>T (p.Glu4416Asp) c.12915G>T (p.Glu4305Asp) c.13128G>T (p.Glu4376Asp) c.13197G>T (p.Glu4399Asp) c.9897G>T (p.Glu3299Asp) c.13608G>T (p.Glu4536Asp) c.13131G>T (p.Glu4377Asp) c.13155G>T (p.Glu4385Asp) c.13209G>T (p.Glu4403Asp) c.13101G>T (p.Glu4367Asp) c.13278G>T (p.Glu4426Asp) c.13266G>T (p.Glu4422Asp) c.13623G>T (p.Glu4541Asp) c.13224G>T (p.Glu4408Asp) c.13212G>T (p.Glu4404Asp) c.13170G>T (p.Glu4390Asp) c.13146G>T (p.Glu4382Asp) c.13116G>T (p.Glu4372Asp) c.13293G>T (p.Glu4431Asp) c.13143G>T (p.Glu4381Asp) c.9843G>T (p.Glu3281Asp) | |
| 8 | g.143916624C>G | CA372476020 | PLEC | c.13329G>C (p.Glu4443Asp) c.13248G>C (p.Glu4416Asp) c.12915G>C (p.Glu4305Asp) c.13128G>C (p.Glu4376Asp) c.13197G>C (p.Glu4399Asp) c.9897G>C (p.Glu3299Asp) c.13608G>C (p.Glu4536Asp) c.13131G>C (p.Glu4377Asp) c.13155G>C (p.Glu4385Asp) c.13209G>C (p.Glu4403Asp) c.13101G>C (p.Glu4367Asp) c.13278G>C (p.Glu4426Asp) c.13266G>C (p.Glu4422Asp) c.13623G>C (p.Glu4541Asp) c.13224G>C (p.Glu4408Asp) c.13212G>C (p.Glu4404Asp) c.13170G>C (p.Glu4390Asp) c.13146G>C (p.Glu4382Asp) c.13116G>C (p.Glu4372Asp) c.13293G>C (p.Glu4431Asp) c.13143G>C (p.Glu4381Asp) c.9843G>C (p.Glu3281Asp) | |
| 8 | g.143916624C>T | CA463525853 | PLEC | c.13329G>A (p.Glu4443=) c.13248G>A (p.Glu4416=) c.12915G>A (p.Glu4305=) c.13128G>A (p.Glu4376=) c.13197G>A (p.Glu4399=) c.9897G>A (p.Glu3299=) c.13608G>A (p.Glu4536=) c.13131G>A (p.Glu4377=) c.13155G>A (p.Glu4385=) c.13209G>A (p.Glu4403=) c.13101G>A (p.Glu4367=) c.13278G>A (p.Glu4426=) c.13266G>A (p.Glu4422=) c.13623G>A (p.Glu4541=) c.13224G>A (p.Glu4408=) c.13212G>A (p.Glu4404=) c.13170G>A (p.Glu4390=) c.13146G>A (p.Glu4382=) c.13116G>A (p.Glu4372=) c.13293G>A (p.Glu4431=) c.13143G>A (p.Glu4381=) c.9843G>A (p.Glu3281=) | gnomAD v4 |
| 8 | g.143916625T>A | CA372476022 | PLEC | c.13328A>T (p.Glu4443Val) c.13247A>T (p.Glu4416Val) c.12914A>T (p.Glu4305Val) c.13127A>T (p.Glu4376Val) c.13196A>T (p.Glu4399Val) c.9896A>T (p.Glu3299Val) c.13607A>T (p.Glu4536Val) c.13130A>T (p.Glu4377Val) c.13154A>T (p.Glu4385Val) c.13208A>T (p.Glu4403Val) c.13100A>T (p.Glu4367Val) c.13277A>T (p.Glu4426Val) c.13265A>T (p.Glu4422Val) c.13622A>T (p.Glu4541Val) c.13223A>T (p.Glu4408Val) c.13211A>T (p.Glu4404Val) c.13169A>T (p.Glu4390Val) c.13145A>T (p.Glu4382Val) c.13115A>T (p.Glu4372Val) c.13292A>T (p.Glu4431Val) c.13142A>T (p.Glu4381Val) c.9842A>T (p.Glu3281Val) | |
| 8 | g.143916625T>C | CA372476024 | PLEC | c.13328A>G (p.Glu4443Gly) c.13247A>G (p.Glu4416Gly) c.12914A>G (p.Glu4305Gly) c.13127A>G (p.Glu4376Gly) c.13196A>G (p.Glu4399Gly) c.9896A>G (p.Glu3299Gly) c.13607A>G (p.Glu4536Gly) c.13130A>G (p.Glu4377Gly) c.13154A>G (p.Glu4385Gly) c.13208A>G (p.Glu4403Gly) c.13100A>G (p.Glu4367Gly) c.13277A>G (p.Glu4426Gly) c.13265A>G (p.Glu4422Gly) c.13622A>G (p.Glu4541Gly) c.13223A>G (p.Glu4408Gly) c.13211A>G (p.Glu4404Gly) c.13169A>G (p.Glu4390Gly) c.13145A>G (p.Glu4382Gly) c.13115A>G (p.Glu4372Gly) c.13292A>G (p.Glu4431Gly) c.13142A>G (p.Glu4381Gly) c.9842A>G (p.Glu3281Gly) | |
| 8 | g.143916625T>G | CA372476025 | PLEC | c.13328A>C (p.Glu4443Ala) c.13247A>C (p.Glu4416Ala) c.12914A>C (p.Glu4305Ala) c.13127A>C (p.Glu4376Ala) c.13196A>C (p.Glu4399Ala) c.9896A>C (p.Glu3299Ala) c.13607A>C (p.Glu4536Ala) c.13130A>C (p.Glu4377Ala) c.13154A>C (p.Glu4385Ala) c.13208A>C (p.Glu4403Ala) c.13100A>C (p.Glu4367Ala) c.13277A>C (p.Glu4426Ala) c.13265A>C (p.Glu4422Ala) c.13622A>C (p.Glu4541Ala) c.13223A>C (p.Glu4408Ala) c.13211A>C (p.Glu4404Ala) c.13169A>C (p.Glu4390Ala) c.13145A>C (p.Glu4382Ala) c.13115A>C (p.Glu4372Ala) c.13292A>C (p.Glu4431Ala) c.13142A>C (p.Glu4381Ala) c.9842A>C (p.Glu3281Ala) | dbSNP |
| 8 | g.143916626C>A | CA372476028 | PLEC | c.13327G>T (p.Glu4443Ter) c.13246G>T (p.Glu4416Ter) c.12913G>T (p.Glu4305Ter) c.13126G>T (p.Glu4376Ter) c.13195G>T (p.Glu4399Ter) c.9895G>T (p.Glu3299Ter) c.13606G>T (p.Glu4536Ter) c.13129G>T (p.Glu4377Ter) c.13153G>T (p.Glu4385Ter) c.13207G>T (p.Glu4403Ter) c.13099G>T (p.Glu4367Ter) c.13276G>T (p.Glu4426Ter) c.13264G>T (p.Glu4422Ter) c.13621G>T (p.Glu4541Ter) c.13222G>T (p.Glu4408Ter) c.13210G>T (p.Glu4404Ter) c.13168G>T (p.Glu4390Ter) c.13144G>T (p.Glu4382Ter) c.13114G>T (p.Glu4372Ter) c.13291G>T (p.Glu4431Ter) c.13141G>T (p.Glu4381Ter) c.9841G>T (p.Glu3281Ter) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143916626C= | CA1826037500 | PLEC | c.13327G= (p.Glu4443=) c.13246G= (p.Glu4416=) c.12913G= (p.Glu4305=) c.13126G= (p.Glu4376=) c.13195G= (p.Glu4399=) c.9895G= (p.Glu3299=) c.13606G= (p.Glu4536=) c.13129G= (p.Glu4377=) c.13153G= (p.Glu4385=) c.13207G= (p.Glu4403=) c.13099G= (p.Glu4367=) c.13276G= (p.Glu4426=) c.13264G= (p.Glu4422=) c.13621G= (p.Glu4541=) c.13222G= (p.Glu4408=) c.13210G= (p.Glu4404=) c.13168G= (p.Glu4390=) c.13144G= (p.Glu4382=) c.13114G= (p.Glu4372=) c.13291G= (p.Glu4431=) c.13141G= (p.Glu4381=) c.9841G= (p.Glu3281=) | |
| 8 | g.143916626C>G | CA372476029 | PLEC | c.13327G>C (p.Glu4443Gln) c.13246G>C (p.Glu4416Gln) c.12913G>C (p.Glu4305Gln) c.13126G>C (p.Glu4376Gln) c.13195G>C (p.Glu4399Gln) c.9895G>C (p.Glu3299Gln) c.13606G>C (p.Glu4536Gln) c.13129G>C (p.Glu4377Gln) c.13153G>C (p.Glu4385Gln) c.13207G>C (p.Glu4403Gln) c.13099G>C (p.Glu4367Gln) c.13276G>C (p.Glu4426Gln) c.13264G>C (p.Glu4422Gln) c.13621G>C (p.Glu4541Gln) c.13222G>C (p.Glu4408Gln) c.13210G>C (p.Glu4404Gln) c.13168G>C (p.Glu4390Gln) c.13144G>C (p.Glu4382Gln) c.13114G>C (p.Glu4372Gln) c.13291G>C (p.Glu4431Gln) c.13141G>C (p.Glu4381Gln) c.9841G>C (p.Glu3281Gln) | |
| 8 | g.143916626C>T | CA372476031 | PLEC | c.13327G>A (p.Glu4443Lys) c.13246G>A (p.Glu4416Lys) c.12913G>A (p.Glu4305Lys) c.13126G>A (p.Glu4376Lys) c.13195G>A (p.Glu4399Lys) c.9895G>A (p.Glu3299Lys) c.13606G>A (p.Glu4536Lys) c.13129G>A (p.Glu4377Lys) c.13153G>A (p.Glu4385Lys) c.13207G>A (p.Glu4403Lys) c.13099G>A (p.Glu4367Lys) c.13276G>A (p.Glu4426Lys) c.13264G>A (p.Glu4422Lys) c.13621G>A (p.Glu4541Lys) c.13222G>A (p.Glu4408Lys) c.13210G>A (p.Glu4404Lys) c.13168G>A (p.Glu4390Lys) c.13144G>A (p.Glu4382Lys) c.13114G>A (p.Glu4372Lys) c.13291G>A (p.Glu4431Lys) c.13141G>A (p.Glu4381Lys) c.9841G>A (p.Glu3281Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916627G>A | CA4923890 | PLEC | c.13326C>T (p.Ile4442=) c.13245C>T (p.Ile4415=) c.12912C>T (p.Ile4304=) c.13125C>T (p.Ile4375=) c.13194C>T (p.Ile4398=) c.9894C>T (p.Ile3298=) c.13605C>T (p.Ile4535=) c.13128C>T (p.Ile4376=) c.13152C>T (p.Ile4384=) c.13206C>T (p.Ile4402=) c.13098C>T (p.Ile4366=) c.13275C>T (p.Ile4425=) c.13263C>T (p.Ile4421=) c.13620C>T (p.Ile4540=) c.13221C>T (p.Ile4407=) c.13209C>T (p.Ile4403=) c.13167C>T (p.Ile4389=) c.13143C>T (p.Ile4381=) c.13113C>T (p.Ile4371=) c.13290C>T (p.Ile4430=) c.13140C>T (p.Ile4380=) c.9840C>T (p.Ile3280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916627G>C | CA372476033 | PLEC | c.13326C>G (p.Ile4442Met) c.13245C>G (p.Ile4415Met) c.12912C>G (p.Ile4304Met) c.13125C>G (p.Ile4375Met) c.13194C>G (p.Ile4398Met) c.9894C>G (p.Ile3298Met) c.13605C>G (p.Ile4535Met) c.13128C>G (p.Ile4376Met) c.13152C>G (p.Ile4384Met) c.13206C>G (p.Ile4402Met) c.13098C>G (p.Ile4366Met) c.13275C>G (p.Ile4425Met) c.13263C>G (p.Ile4421Met) c.13620C>G (p.Ile4540Met) c.13221C>G (p.Ile4407Met) c.13209C>G (p.Ile4403Met) c.13167C>G (p.Ile4389Met) c.13143C>G (p.Ile4381Met) c.13113C>G (p.Ile4371Met) c.13290C>G (p.Ile4430Met) c.13140C>G (p.Ile4380Met) c.9840C>G (p.Ile3280Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916627G= | CA1826037503 | PLEC | c.13326C= (p.Ile4442=) c.13245C= (p.Ile4415=) c.12912C= (p.Ile4304=) c.13125C= (p.Ile4375=) c.13194C= (p.Ile4398=) c.9894C= (p.Ile3298=) c.13605C= (p.Ile4535=) c.13128C= (p.Ile4376=) c.13152C= (p.Ile4384=) c.13206C= (p.Ile4402=) c.13098C= (p.Ile4366=) c.13275C= (p.Ile4425=) c.13263C= (p.Ile4421=) c.13620C= (p.Ile4540=) c.13221C= (p.Ile4407=) c.13209C= (p.Ile4403=) c.13167C= (p.Ile4389=) c.13143C= (p.Ile4381=) c.13113C= (p.Ile4371=) c.13290C= (p.Ile4430=) c.13140C= (p.Ile4380=) c.9840C= (p.Ile3280=) | |
| 8 | g.143916627G>T | CA463525857 | PLEC | c.13326C>A (p.Ile4442=) c.13245C>A (p.Ile4415=) c.12912C>A (p.Ile4304=) c.13125C>A (p.Ile4375=) c.13194C>A (p.Ile4398=) c.9894C>A (p.Ile3298=) c.13605C>A (p.Ile4535=) c.13128C>A (p.Ile4376=) c.13152C>A (p.Ile4384=) c.13206C>A (p.Ile4402=) c.13098C>A (p.Ile4366=) c.13275C>A (p.Ile4425=) c.13263C>A (p.Ile4421=) c.13620C>A (p.Ile4540=) c.13221C>A (p.Ile4407=) c.13209C>A (p.Ile4403=) c.13167C>A (p.Ile4389=) c.13143C>A (p.Ile4381=) c.13113C>A (p.Ile4371=) c.13290C>A (p.Ile4430=) c.13140C>A (p.Ile4380=) c.9840C>A (p.Ile3280=) | dbSNP gnomAD v4 |
| 8 | g.143916628A>C | CA372476035 | PLEC | c.13325T>G (p.Ile4442Ser) c.13244T>G (p.Ile4415Ser) c.12911T>G (p.Ile4304Ser) c.13124T>G (p.Ile4375Ser) c.13193T>G (p.Ile4398Ser) c.9893T>G (p.Ile3298Ser) c.13604T>G (p.Ile4535Ser) c.13127T>G (p.Ile4376Ser) c.13151T>G (p.Ile4384Ser) c.13205T>G (p.Ile4402Ser) c.13097T>G (p.Ile4366Ser) c.13274T>G (p.Ile4425Ser) c.13262T>G (p.Ile4421Ser) c.13619T>G (p.Ile4540Ser) c.13220T>G (p.Ile4407Ser) c.13208T>G (p.Ile4403Ser) c.13166T>G (p.Ile4389Ser) c.13142T>G (p.Ile4381Ser) c.13112T>G (p.Ile4371Ser) c.13289T>G (p.Ile4430Ser) c.13139T>G (p.Ile4380Ser) c.9839T>G (p.Ile3280Ser) | |
| 8 | g.143916628A>G | CA372476037 | PLEC | c.13325T>C (p.Ile4442Thr) c.13244T>C (p.Ile4415Thr) c.12911T>C (p.Ile4304Thr) c.13124T>C (p.Ile4375Thr) c.13193T>C (p.Ile4398Thr) c.9893T>C (p.Ile3298Thr) c.13604T>C (p.Ile4535Thr) c.13127T>C (p.Ile4376Thr) c.13151T>C (p.Ile4384Thr) c.13205T>C (p.Ile4402Thr) c.13097T>C (p.Ile4366Thr) c.13274T>C (p.Ile4425Thr) c.13262T>C (p.Ile4421Thr) c.13619T>C (p.Ile4540Thr) c.13220T>C (p.Ile4407Thr) c.13208T>C (p.Ile4403Thr) c.13166T>C (p.Ile4389Thr) c.13142T>C (p.Ile4381Thr) c.13112T>C (p.Ile4371Thr) c.13289T>C (p.Ile4430Thr) c.13139T>C (p.Ile4380Thr) c.9839T>C (p.Ile3280Thr) | |
| 8 | g.143916628A>T | CA372476039 | PLEC | c.13325T>A (p.Ile4442Asn) c.13244T>A (p.Ile4415Asn) c.12911T>A (p.Ile4304Asn) c.13124T>A (p.Ile4375Asn) c.13193T>A (p.Ile4398Asn) c.9893T>A (p.Ile3298Asn) c.13604T>A (p.Ile4535Asn) c.13127T>A (p.Ile4376Asn) c.13151T>A (p.Ile4384Asn) c.13205T>A (p.Ile4402Asn) c.13097T>A (p.Ile4366Asn) c.13274T>A (p.Ile4425Asn) c.13262T>A (p.Ile4421Asn) c.13619T>A (p.Ile4540Asn) c.13220T>A (p.Ile4407Asn) c.13208T>A (p.Ile4403Asn) c.13166T>A (p.Ile4389Asn) c.13142T>A (p.Ile4381Asn) c.13112T>A (p.Ile4371Asn) c.13289T>A (p.Ile4430Asn) c.13139T>A (p.Ile4380Asn) c.9839T>A (p.Ile3280Asn) | |
| 8 | g.143916629T>A | CA372476046 | PLEC | c.13324A>T (p.Ile4442Phe) c.13243A>T (p.Ile4415Phe) c.12910A>T (p.Ile4304Phe) c.13123A>T (p.Ile4375Phe) c.13192A>T (p.Ile4398Phe) c.9892A>T (p.Ile3298Phe) c.13603A>T (p.Ile4535Phe) c.13126A>T (p.Ile4376Phe) c.13150A>T (p.Ile4384Phe) c.13204A>T (p.Ile4402Phe) c.13096A>T (p.Ile4366Phe) c.13273A>T (p.Ile4425Phe) c.13261A>T (p.Ile4421Phe) c.13618A>T (p.Ile4540Phe) c.13219A>T (p.Ile4407Phe) c.13207A>T (p.Ile4403Phe) c.13165A>T (p.Ile4389Phe) c.13141A>T (p.Ile4381Phe) c.13111A>T (p.Ile4371Phe) c.13288A>T (p.Ile4430Phe) c.13138A>T (p.Ile4380Phe) c.9838A>T (p.Ile3280Phe) | |
| 8 | g.143916629T>C | CA372476043 | PLEC | c.13324A>G (p.Ile4442Val) c.13243A>G (p.Ile4415Val) c.12910A>G (p.Ile4304Val) c.13123A>G (p.Ile4375Val) c.13192A>G (p.Ile4398Val) c.9892A>G (p.Ile3298Val) c.13603A>G (p.Ile4535Val) c.13126A>G (p.Ile4376Val) c.13150A>G (p.Ile4384Val) c.13204A>G (p.Ile4402Val) c.13096A>G (p.Ile4366Val) c.13273A>G (p.Ile4425Val) c.13261A>G (p.Ile4421Val) c.13618A>G (p.Ile4540Val) c.13219A>G (p.Ile4407Val) c.13207A>G (p.Ile4403Val) c.13165A>G (p.Ile4389Val) c.13141A>G (p.Ile4381Val) c.13111A>G (p.Ile4371Val) c.13288A>G (p.Ile4430Val) c.13138A>G (p.Ile4380Val) c.9838A>G (p.Ile3280Val) | gnomAD v4 |
| 8 | g.143916629T>G | CA372476041 | PLEC | c.13324A>C (p.Ile4442Leu) c.13243A>C (p.Ile4415Leu) c.12910A>C (p.Ile4304Leu) c.13123A>C (p.Ile4375Leu) c.13192A>C (p.Ile4398Leu) c.9892A>C (p.Ile3298Leu) c.13603A>C (p.Ile4535Leu) c.13126A>C (p.Ile4376Leu) c.13150A>C (p.Ile4384Leu) c.13204A>C (p.Ile4402Leu) c.13096A>C (p.Ile4366Leu) c.13273A>C (p.Ile4425Leu) c.13261A>C (p.Ile4421Leu) c.13618A>C (p.Ile4540Leu) c.13219A>C (p.Ile4407Leu) c.13207A>C (p.Ile4403Leu) c.13165A>C (p.Ile4389Leu) c.13141A>C (p.Ile4381Leu) c.13111A>C (p.Ile4371Leu) c.13288A>C (p.Ile4430Leu) c.13138A>C (p.Ile4380Leu) c.9838A>C (p.Ile3280Leu) | |
| 8 | g.143916630C>A | CA372476049 | PLEC | c.13323G>T (p.Leu4441Phe) c.13242G>T (p.Leu4414Phe) c.12909G>T (p.Leu4303Phe) c.13122G>T (p.Leu4374Phe) c.13191G>T (p.Leu4397Phe) c.9891G>T (p.Leu3297Phe) c.13602G>T (p.Leu4534Phe) c.13125G>T (p.Leu4375Phe) c.13149G>T (p.Leu4383Phe) c.13203G>T (p.Leu4401Phe) c.13095G>T (p.Leu4365Phe) c.13272G>T (p.Leu4424Phe) c.13260G>T (p.Leu4420Phe) c.13617G>T (p.Leu4539Phe) c.13218G>T (p.Leu4406Phe) c.13206G>T (p.Leu4402Phe) c.13164G>T (p.Leu4388Phe) c.13140G>T (p.Leu4380Phe) c.13110G>T (p.Leu4370Phe) c.13287G>T (p.Leu4429Phe) c.13137G>T (p.Leu4379Phe) c.9837G>T (p.Leu3279Phe) | |
| 8 | g.143916630C= | CA1826037505 | PLEC | c.13323G= (p.Leu4441=) c.13242G= (p.Leu4414=) c.12909G= (p.Leu4303=) c.13122G= (p.Leu4374=) c.13191G= (p.Leu4397=) c.9891G= (p.Leu3297=) c.13602G= (p.Leu4534=) c.13125G= (p.Leu4375=) c.13149G= (p.Leu4383=) c.13203G= (p.Leu4401=) c.13095G= (p.Leu4365=) c.13272G= (p.Leu4424=) c.13260G= (p.Leu4420=) c.13617G= (p.Leu4539=) c.13218G= (p.Leu4406=) c.13206G= (p.Leu4402=) c.13164G= (p.Leu4388=) c.13140G= (p.Leu4380=) c.13110G= (p.Leu4370=) c.13287G= (p.Leu4429=) c.13137G= (p.Leu4379=) c.9837G= (p.Leu3279=) | |
| 8 | g.143916630C>G | CA372476056 | PLEC | c.13323G>C (p.Leu4441Phe) c.13242G>C (p.Leu4414Phe) c.12909G>C (p.Leu4303Phe) c.13122G>C (p.Leu4374Phe) c.13191G>C (p.Leu4397Phe) c.9891G>C (p.Leu3297Phe) c.13602G>C (p.Leu4534Phe) c.13125G>C (p.Leu4375Phe) c.13149G>C (p.Leu4383Phe) c.13203G>C (p.Leu4401Phe) c.13095G>C (p.Leu4365Phe) c.13272G>C (p.Leu4424Phe) c.13260G>C (p.Leu4420Phe) c.13617G>C (p.Leu4539Phe) c.13218G>C (p.Leu4406Phe) c.13206G>C (p.Leu4402Phe) c.13164G>C (p.Leu4388Phe) c.13140G>C (p.Leu4380Phe) c.13110G>C (p.Leu4370Phe) c.13287G>C (p.Leu4429Phe) c.13137G>C (p.Leu4379Phe) c.9837G>C (p.Leu3279Phe) | |
| 8 | g.143916630C>T | CA463525860 | PLEC | c.13323G>A (p.Leu4441=) c.13242G>A (p.Leu4414=) c.12909G>A (p.Leu4303=) c.13122G>A (p.Leu4374=) c.13191G>A (p.Leu4397=) c.9891G>A (p.Leu3297=) c.13602G>A (p.Leu4534=) c.13125G>A (p.Leu4375=) c.13149G>A (p.Leu4383=) c.13203G>A (p.Leu4401=) c.13095G>A (p.Leu4365=) c.13272G>A (p.Leu4424=) c.13260G>A (p.Leu4420=) c.13617G>A (p.Leu4539=) c.13218G>A (p.Leu4406=) c.13206G>A (p.Leu4402=) c.13164G>A (p.Leu4388=) c.13140G>A (p.Leu4380=) c.13110G>A (p.Leu4370=) c.13287G>A (p.Leu4429=) c.13137G>A (p.Leu4379=) c.9837G>A (p.Leu3279=) | dbSNP gnomAD v4 |
| 8 | g.143916631A>C | CA372476061 | PLEC | c.13322T>G (p.Leu4441Trp) c.13241T>G (p.Leu4414Trp) c.12908T>G (p.Leu4303Trp) c.13121T>G (p.Leu4374Trp) c.13190T>G (p.Leu4397Trp) c.9890T>G (p.Leu3297Trp) c.13601T>G (p.Leu4534Trp) c.13124T>G (p.Leu4375Trp) c.13148T>G (p.Leu4383Trp) c.13202T>G (p.Leu4401Trp) c.13094T>G (p.Leu4365Trp) c.13271T>G (p.Leu4424Trp) c.13259T>G (p.Leu4420Trp) c.13616T>G (p.Leu4539Trp) c.13217T>G (p.Leu4406Trp) c.13205T>G (p.Leu4402Trp) c.13163T>G (p.Leu4388Trp) c.13139T>G (p.Leu4380Trp) c.13109T>G (p.Leu4370Trp) c.13286T>G (p.Leu4429Trp) c.13136T>G (p.Leu4379Trp) c.9836T>G (p.Leu3279Trp) | |
| 8 | g.143916631A>G | CA372476063 | PLEC | c.13322T>C (p.Leu4441Ser) c.13241T>C (p.Leu4414Ser) c.12908T>C (p.Leu4303Ser) c.13121T>C (p.Leu4374Ser) c.13190T>C (p.Leu4397Ser) c.9890T>C (p.Leu3297Ser) c.13601T>C (p.Leu4534Ser) c.13124T>C (p.Leu4375Ser) c.13148T>C (p.Leu4383Ser) c.13202T>C (p.Leu4401Ser) c.13094T>C (p.Leu4365Ser) c.13271T>C (p.Leu4424Ser) c.13259T>C (p.Leu4420Ser) c.13616T>C (p.Leu4539Ser) c.13217T>C (p.Leu4406Ser) c.13205T>C (p.Leu4402Ser) c.13163T>C (p.Leu4388Ser) c.13139T>C (p.Leu4380Ser) c.13109T>C (p.Leu4370Ser) c.13286T>C (p.Leu4429Ser) c.13136T>C (p.Leu4379Ser) c.9836T>C (p.Leu3279Ser) | |
| 8 | g.143916631A>T | CA372476066 | PLEC | c.13322T>A (p.Leu4441Ter) c.13241T>A (p.Leu4414Ter) c.12908T>A (p.Leu4303Ter) c.13121T>A (p.Leu4374Ter) c.13190T>A (p.Leu4397Ter) c.9890T>A (p.Leu3297Ter) c.13601T>A (p.Leu4534Ter) c.13124T>A (p.Leu4375Ter) c.13148T>A (p.Leu4383Ter) c.13202T>A (p.Leu4401Ter) c.13094T>A (p.Leu4365Ter) c.13271T>A (p.Leu4424Ter) c.13259T>A (p.Leu4420Ter) c.13616T>A (p.Leu4539Ter) c.13217T>A (p.Leu4406Ter) c.13205T>A (p.Leu4402Ter) c.13163T>A (p.Leu4388Ter) c.13139T>A (p.Leu4380Ter) c.13109T>A (p.Leu4370Ter) c.13286T>A (p.Leu4429Ter) c.13136T>A (p.Leu4379Ter) c.9836T>A (p.Leu3279Ter) | |
| 8 | g.143916632A>C | CA372476068 | PLEC | c.13321T>G (p.Leu4441Val) c.13240T>G (p.Leu4414Val) c.12907T>G (p.Leu4303Val) c.13120T>G (p.Leu4374Val) c.13189T>G (p.Leu4397Val) c.9889T>G (p.Leu3297Val) c.13600T>G (p.Leu4534Val) c.13123T>G (p.Leu4375Val) c.13147T>G (p.Leu4383Val) c.13201T>G (p.Leu4401Val) c.13093T>G (p.Leu4365Val) c.13270T>G (p.Leu4424Val) c.13258T>G (p.Leu4420Val) c.13615T>G (p.Leu4539Val) c.13216T>G (p.Leu4406Val) c.13204T>G (p.Leu4402Val) c.13162T>G (p.Leu4388Val) c.13138T>G (p.Leu4380Val) c.13108T>G (p.Leu4370Val) c.13285T>G (p.Leu4429Val) c.13135T>G (p.Leu4379Val) c.9835T>G (p.Leu3279Val) | |
| 8 | g.143916632A>G | CA463525865 | PLEC | c.13321T>C (p.Leu4441=) c.13240T>C (p.Leu4414=) c.12907T>C (p.Leu4303=) c.13120T>C (p.Leu4374=) c.13189T>C (p.Leu4397=) c.9889T>C (p.Leu3297=) c.13600T>C (p.Leu4534=) c.13123T>C (p.Leu4375=) c.13147T>C (p.Leu4383=) c.13201T>C (p.Leu4401=) c.13093T>C (p.Leu4365=) c.13270T>C (p.Leu4424=) c.13258T>C (p.Leu4420=) c.13615T>C (p.Leu4539=) c.13216T>C (p.Leu4406=) c.13204T>C (p.Leu4402=) c.13162T>C (p.Leu4388=) c.13138T>C (p.Leu4380=) c.13108T>C (p.Leu4370=) c.13285T>C (p.Leu4429=) c.13135T>C (p.Leu4379=) c.9835T>C (p.Leu3279=) | dbSNP |
| 8 | g.143916632A>T | CA372476070 | PLEC | c.13321T>A (p.Leu4441Met) c.13240T>A (p.Leu4414Met) c.12907T>A (p.Leu4303Met) c.13120T>A (p.Leu4374Met) c.13189T>A (p.Leu4397Met) c.9889T>A (p.Leu3297Met) c.13600T>A (p.Leu4534Met) c.13123T>A (p.Leu4375Met) c.13147T>A (p.Leu4383Met) c.13201T>A (p.Leu4401Met) c.13093T>A (p.Leu4365Met) c.13270T>A (p.Leu4424Met) c.13258T>A (p.Leu4420Met) c.13615T>A (p.Leu4539Met) c.13216T>A (p.Leu4406Met) c.13204T>A (p.Leu4402Met) c.13162T>A (p.Leu4388Met) c.13138T>A (p.Leu4380Met) c.13108T>A (p.Leu4370Met) c.13285T>A (p.Leu4429Met) c.13135T>A (p.Leu4379Met) c.9835T>A (p.Leu3279Met) | |
| 8 | g.143916633G>A | CA463525867 | PLEC | c.13320C>T (p.Gly4440=) c.13239C>T (p.Gly4413=) c.12906C>T (p.Gly4302=) c.13119C>T (p.Gly4373=) c.13188C>T (p.Gly4396=) c.9888C>T (p.Gly3296=) c.13599C>T (p.Gly4533=) c.13122C>T (p.Gly4374=) c.13146C>T (p.Gly4382=) c.13200C>T (p.Gly4400=) c.13092C>T (p.Gly4364=) c.13269C>T (p.Gly4423=) c.13257C>T (p.Gly4419=) c.13614C>T (p.Gly4538=) c.13215C>T (p.Gly4405=) c.13203C>T (p.Gly4401=) c.13161C>T (p.Gly4387=) c.13137C>T (p.Gly4379=) c.13107C>T (p.Gly4369=) c.13284C>T (p.Gly4428=) c.13134C>T (p.Gly4378=) c.9834C>T (p.Gly3278=) | |
| 8 | g.143916633G>C | CA463525869 | PLEC | c.13320C>G (p.Gly4440=) c.13239C>G (p.Gly4413=) c.12906C>G (p.Gly4302=) c.13119C>G (p.Gly4373=) c.13188C>G (p.Gly4396=) c.9888C>G (p.Gly3296=) c.13599C>G (p.Gly4533=) c.13122C>G (p.Gly4374=) c.13146C>G (p.Gly4382=) c.13200C>G (p.Gly4400=) c.13092C>G (p.Gly4364=) c.13269C>G (p.Gly4423=) c.13257C>G (p.Gly4419=) c.13614C>G (p.Gly4538=) c.13215C>G (p.Gly4405=) c.13203C>G (p.Gly4401=) c.13161C>G (p.Gly4387=) c.13137C>G (p.Gly4379=) c.13107C>G (p.Gly4369=) c.13284C>G (p.Gly4428=) c.13134C>G (p.Gly4378=) c.9834C>G (p.Gly3278=) | |
| 8 | g.143916633G>T | CA463525870 | PLEC | c.13320C>A (p.Gly4440=) c.13239C>A (p.Gly4413=) c.12906C>A (p.Gly4302=) c.13119C>A (p.Gly4373=) c.13188C>A (p.Gly4396=) c.9888C>A (p.Gly3296=) c.13599C>A (p.Gly4533=) c.13122C>A (p.Gly4374=) c.13146C>A (p.Gly4382=) c.13200C>A (p.Gly4400=) c.13092C>A (p.Gly4364=) c.13269C>A (p.Gly4423=) c.13257C>A (p.Gly4419=) c.13614C>A (p.Gly4538=) c.13215C>A (p.Gly4405=) c.13203C>A (p.Gly4401=) c.13161C>A (p.Gly4387=) c.13137C>A (p.Gly4379=) c.13107C>A (p.Gly4369=) c.13284C>A (p.Gly4428=) c.13134C>A (p.Gly4378=) c.9834C>A (p.Gly3278=) | |
| 8 | g.143916637_143916639del | CA2689011290 | PLEC | c.13318_13320del (p.Gly4440del) c.13237_13239del (p.Gly4413del) c.12904_12906del (p.Gly4302del) c.13117_13119del (p.Gly4373del) c.13186_13188del (p.Gly4396del) c.9886_9888del (p.Gly3296del) c.13597_13599del (p.Gly4533del) c.13120_13122del (p.Gly4374del) c.13144_13146del (p.Gly4382del) c.13198_13200del (p.Gly4400del) c.13090_13092del (p.Gly4364del) c.13267_13269del (p.Gly4423del) c.13255_13257del (p.Gly4419del) c.13612_13614del (p.Gly4538del) c.13213_13215del (p.Gly4405del) c.13201_13203del (p.Gly4401del) c.13159_13161del (p.Gly4387del) c.13135_13137del (p.Gly4379del) c.13105_13107del (p.Gly4369del) c.13282_13284del (p.Gly4428del) c.13132_13134del (p.Gly4378del) c.9832_9834del (p.Gly3278del) | gnomAD v4 |
| 8 | g.143916634C>A | CA372476076 | PLEC | c.13319G>T (p.Gly4440Val) c.13238G>T (p.Gly4413Val) c.12905G>T (p.Gly4302Val) c.13118G>T (p.Gly4373Val) c.13187G>T (p.Gly4396Val) c.9887G>T (p.Gly3296Val) c.13598G>T (p.Gly4533Val) c.13121G>T (p.Gly4374Val) c.13145G>T (p.Gly4382Val) c.13199G>T (p.Gly4400Val) c.13091G>T (p.Gly4364Val) c.13268G>T (p.Gly4423Val) c.13256G>T (p.Gly4419Val) c.13613G>T (p.Gly4538Val) c.13214G>T (p.Gly4405Val) c.13202G>T (p.Gly4401Val) c.13160G>T (p.Gly4387Val) c.13136G>T (p.Gly4379Val) c.13106G>T (p.Gly4369Val) c.13283G>T (p.Gly4428Val) c.13133G>T (p.Gly4378Val) c.9833G>T (p.Gly3278Val) | |
| 8 | g.143916634C= | CA1826037507 | PLEC | c.13319G= (p.Gly4440=) c.13238G= (p.Gly4413=) c.12905G= (p.Gly4302=) c.13118G= (p.Gly4373=) c.13187G= (p.Gly4396=) c.9887G= (p.Gly3296=) c.13598G= (p.Gly4533=) c.13121G= (p.Gly4374=) c.13145G= (p.Gly4382=) c.13199G= (p.Gly4400=) c.13091G= (p.Gly4364=) c.13268G= (p.Gly4423=) c.13256G= (p.Gly4419=) c.13613G= (p.Gly4538=) c.13214G= (p.Gly4405=) c.13202G= (p.Gly4401=) c.13160G= (p.Gly4387=) c.13136G= (p.Gly4379=) c.13106G= (p.Gly4369=) c.13283G= (p.Gly4428=) c.13133G= (p.Gly4378=) c.9833G= (p.Gly3278=) | |
| 8 | g.143916634C>G | CA372476081 | PLEC | c.13319G>C (p.Gly4440Ala) c.13238G>C (p.Gly4413Ala) c.12905G>C (p.Gly4302Ala) c.13118G>C (p.Gly4373Ala) c.13187G>C (p.Gly4396Ala) c.9887G>C (p.Gly3296Ala) c.13598G>C (p.Gly4533Ala) c.13121G>C (p.Gly4374Ala) c.13145G>C (p.Gly4382Ala) c.13199G>C (p.Gly4400Ala) c.13091G>C (p.Gly4364Ala) c.13268G>C (p.Gly4423Ala) c.13256G>C (p.Gly4419Ala) c.13613G>C (p.Gly4538Ala) c.13214G>C (p.Gly4405Ala) c.13202G>C (p.Gly4401Ala) c.13160G>C (p.Gly4387Ala) c.13136G>C (p.Gly4379Ala) c.13106G>C (p.Gly4369Ala) c.13283G>C (p.Gly4428Ala) c.13133G>C (p.Gly4378Ala) c.9833G>C (p.Gly3278Ala) | |
| 8 | g.143916634C>T | CA372476083 | PLEC | c.13319G>A (p.Gly4440Asp) c.13238G>A (p.Gly4413Asp) c.12905G>A (p.Gly4302Asp) c.13118G>A (p.Gly4373Asp) c.13187G>A (p.Gly4396Asp) c.9887G>A (p.Gly3296Asp) c.13598G>A (p.Gly4533Asp) c.13121G>A (p.Gly4374Asp) c.13145G>A (p.Gly4382Asp) c.13199G>A (p.Gly4400Asp) c.13091G>A (p.Gly4364Asp) c.13268G>A (p.Gly4423Asp) c.13256G>A (p.Gly4419Asp) c.13613G>A (p.Gly4538Asp) c.13214G>A (p.Gly4405Asp) c.13202G>A (p.Gly4401Asp) c.13160G>A (p.Gly4387Asp) c.13136G>A (p.Gly4379Asp) c.13106G>A (p.Gly4369Asp) c.13283G>A (p.Gly4428Asp) c.13133G>A (p.Gly4378Asp) c.9833G>A (p.Gly3278Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143916635C>A | CA372476096 | PLEC | c.13318G>T (p.Gly4440Cys) c.13237G>T (p.Gly4413Cys) c.12904G>T (p.Gly4302Cys) c.13117G>T (p.Gly4373Cys) c.13186G>T (p.Gly4396Cys) c.9886G>T (p.Gly3296Cys) c.13597G>T (p.Gly4533Cys) c.13120G>T (p.Gly4374Cys) c.13144G>T (p.Gly4382Cys) c.13198G>T (p.Gly4400Cys) c.13090G>T (p.Gly4364Cys) c.13267G>T (p.Gly4423Cys) c.13255G>T (p.Gly4419Cys) c.13612G>T (p.Gly4538Cys) c.13213G>T (p.Gly4405Cys) c.13201G>T (p.Gly4401Cys) c.13159G>T (p.Gly4387Cys) c.13135G>T (p.Gly4379Cys) c.13105G>T (p.Gly4369Cys) c.13282G>T (p.Gly4428Cys) c.13132G>T (p.Gly4378Cys) c.9832G>T (p.Gly3278Cys) | |
| 8 | g.143916635C= | CA1826037508 | PLEC | c.13318G= (p.Gly4440=) c.13237G= (p.Gly4413=) c.12904G= (p.Gly4302=) c.13117G= (p.Gly4373=) c.13186G= (p.Gly4396=) c.9886G= (p.Gly3296=) c.13597G= (p.Gly4533=) c.13120G= (p.Gly4374=) c.13144G= (p.Gly4382=) c.13198G= (p.Gly4400=) c.13090G= (p.Gly4364=) c.13267G= (p.Gly4423=) c.13255G= (p.Gly4419=) c.13612G= (p.Gly4538=) c.13213G= (p.Gly4405=) c.13201G= (p.Gly4401=) c.13159G= (p.Gly4387=) c.13135G= (p.Gly4379=) c.13105G= (p.Gly4369=) c.13282G= (p.Gly4428=) c.13132G= (p.Gly4378=) c.9832G= (p.Gly3278=) | |
| 8 | g.143916635C>G | CA372476099 | PLEC | c.13318G>C (p.Gly4440Arg) c.13237G>C (p.Gly4413Arg) c.12904G>C (p.Gly4302Arg) c.13117G>C (p.Gly4373Arg) c.13186G>C (p.Gly4396Arg) c.9886G>C (p.Gly3296Arg) c.13597G>C (p.Gly4533Arg) c.13120G>C (p.Gly4374Arg) c.13144G>C (p.Gly4382Arg) c.13198G>C (p.Gly4400Arg) c.13090G>C (p.Gly4364Arg) c.13267G>C (p.Gly4423Arg) c.13255G>C (p.Gly4419Arg) c.13612G>C (p.Gly4538Arg) c.13213G>C (p.Gly4405Arg) c.13201G>C (p.Gly4401Arg) c.13159G>C (p.Gly4387Arg) c.13135G>C (p.Gly4379Arg) c.13105G>C (p.Gly4369Arg) c.13282G>C (p.Gly4428Arg) c.13132G>C (p.Gly4378Arg) c.9832G>C (p.Gly3278Arg) | |
| 8 | g.143916635C>T | CA187606737 | PLEC | c.13318G>A (p.Gly4440Ser) c.13237G>A (p.Gly4413Ser) c.12904G>A (p.Gly4302Ser) c.13117G>A (p.Gly4373Ser) c.13186G>A (p.Gly4396Ser) c.9886G>A (p.Gly3296Ser) c.13597G>A (p.Gly4533Ser) c.13120G>A (p.Gly4374Ser) c.13144G>A (p.Gly4382Ser) c.13198G>A (p.Gly4400Ser) c.13090G>A (p.Gly4364Ser) c.13267G>A (p.Gly4423Ser) c.13255G>A (p.Gly4419Ser) c.13612G>A (p.Gly4538Ser) c.13213G>A (p.Gly4405Ser) c.13201G>A (p.Gly4401Ser) c.13159G>A (p.Gly4387Ser) c.13135G>A (p.Gly4379Ser) c.13105G>A (p.Gly4369Ser) c.13282G>A (p.Gly4428Ser) c.13132G>A (p.Gly4378Ser) c.9832G>A (p.Gly3278Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916636G>A | CA4923892 | PLEC | c.13317C>T (p.Gly4439=) c.13236C>T (p.Gly4412=) c.12903C>T (p.Gly4301=) c.13116C>T (p.Gly4372=) c.13185C>T (p.Gly4395=) c.9885C>T (p.Gly3295=) c.13596C>T (p.Gly4532=) c.13119C>T (p.Gly4373=) c.13143C>T (p.Gly4381=) c.13197C>T (p.Gly4399=) c.13089C>T (p.Gly4363=) c.13266C>T (p.Gly4422=) c.13254C>T (p.Gly4418=) c.13611C>T (p.Gly4537=) c.13212C>T (p.Gly4404=) c.13200C>T (p.Gly4400=) c.13158C>T (p.Gly4386=) c.13134C>T (p.Gly4378=) c.13104C>T (p.Gly4368=) c.13281C>T (p.Gly4427=) c.13131C>T (p.Gly4377=) c.9831C>T (p.Gly3277=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143916636G>C | CA463525874 | PLEC | c.13317C>G (p.Gly4439=) c.13236C>G (p.Gly4412=) c.12903C>G (p.Gly4301=) c.13116C>G (p.Gly4372=) c.13185C>G (p.Gly4395=) c.9885C>G (p.Gly3295=) c.13596C>G (p.Gly4532=) c.13119C>G (p.Gly4373=) c.13143C>G (p.Gly4381=) c.13197C>G (p.Gly4399=) c.13089C>G (p.Gly4363=) c.13266C>G (p.Gly4422=) c.13254C>G (p.Gly4418=) c.13611C>G (p.Gly4537=) c.13212C>G (p.Gly4404=) c.13200C>G (p.Gly4400=) c.13158C>G (p.Gly4386=) c.13134C>G (p.Gly4378=) c.13104C>G (p.Gly4368=) c.13281C>G (p.Gly4427=) c.13131C>G (p.Gly4377=) c.9831C>G (p.Gly3277=) | |
| 8 | g.143916636G= | CA1826037511 | PLEC | c.13317C= (p.Gly4439=) c.13236C= (p.Gly4412=) c.12903C= (p.Gly4301=) c.13116C= (p.Gly4372=) c.13185C= (p.Gly4395=) c.9885C= (p.Gly3295=) c.13596C= (p.Gly4532=) c.13119C= (p.Gly4373=) c.13143C= (p.Gly4381=) c.13197C= (p.Gly4399=) c.13089C= (p.Gly4363=) c.13266C= (p.Gly4422=) c.13254C= (p.Gly4418=) c.13611C= (p.Gly4537=) c.13212C= (p.Gly4404=) c.13200C= (p.Gly4400=) c.13158C= (p.Gly4386=) c.13134C= (p.Gly4378=) c.13104C= (p.Gly4368=) c.13281C= (p.Gly4427=) c.13131C= (p.Gly4377=) c.9831C= (p.Gly3277=) | |
| 8 | g.143916636G>T | CA4923891 | PLEC | c.13317C>A (p.Gly4439=) c.13236C>A (p.Gly4412=) c.12903C>A (p.Gly4301=) c.13116C>A (p.Gly4372=) c.13185C>A (p.Gly4395=) c.9885C>A (p.Gly3295=) c.13596C>A (p.Gly4532=) c.13119C>A (p.Gly4373=) c.13143C>A (p.Gly4381=) c.13197C>A (p.Gly4399=) c.13089C>A (p.Gly4363=) c.13266C>A (p.Gly4422=) c.13254C>A (p.Gly4418=) c.13611C>A (p.Gly4537=) c.13212C>A (p.Gly4404=) c.13200C>A (p.Gly4400=) c.13158C>A (p.Gly4386=) c.13134C>A (p.Gly4378=) c.13104C>A (p.Gly4368=) c.13281C>A (p.Gly4427=) c.13131C>A (p.Gly4377=) c.9831C>A (p.Gly3277=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143916637C>A | CA372476108 | PLEC | c.13316G>T (p.Gly4439Val) c.13235G>T (p.Gly4412Val) c.12902G>T (p.Gly4301Val) c.13115G>T (p.Gly4372Val) c.13184G>T (p.Gly4395Val) c.9884G>T (p.Gly3295Val) c.13595G>T (p.Gly4532Val) c.13118G>T (p.Gly4373Val) c.13142G>T (p.Gly4381Val) c.13196G>T (p.Gly4399Val) c.13088G>T (p.Gly4363Val) c.13265G>T (p.Gly4422Val) c.13253G>T (p.Gly4418Val) c.13610G>T (p.Gly4537Val) c.13211G>T (p.Gly4404Val) c.13199G>T (p.Gly4400Val) c.13157G>T (p.Gly4386Val) c.13133G>T (p.Gly4378Val) c.13103G>T (p.Gly4368Val) c.13280G>T (p.Gly4427Val) c.13130G>T (p.Gly4377Val) c.9830G>T (p.Gly3277Val) | |
| 8 | g.143916637C>G | CA372476112 | PLEC | c.13316G>C (p.Gly4439Ala) c.13235G>C (p.Gly4412Ala) c.12902G>C (p.Gly4301Ala) c.13115G>C (p.Gly4372Ala) c.13184G>C (p.Gly4395Ala) c.9884G>C (p.Gly3295Ala) c.13595G>C (p.Gly4532Ala) c.13118G>C (p.Gly4373Ala) c.13142G>C (p.Gly4381Ala) c.13196G>C (p.Gly4399Ala) c.13088G>C (p.Gly4363Ala) c.13265G>C (p.Gly4422Ala) c.13253G>C (p.Gly4418Ala) c.13610G>C (p.Gly4537Ala) c.13211G>C (p.Gly4404Ala) c.13199G>C (p.Gly4400Ala) c.13157G>C (p.Gly4386Ala) c.13133G>C (p.Gly4378Ala) c.13103G>C (p.Gly4368Ala) c.13280G>C (p.Gly4427Ala) c.13130G>C (p.Gly4377Ala) c.9830G>C (p.Gly3277Ala) | |
| 8 | g.143916637C>T | CA372476110 | PLEC | c.13316G>A (p.Gly4439Asp) c.13235G>A (p.Gly4412Asp) c.12902G>A (p.Gly4301Asp) c.13115G>A (p.Gly4372Asp) c.13184G>A (p.Gly4395Asp) c.9884G>A (p.Gly3295Asp) c.13595G>A (p.Gly4532Asp) c.13118G>A (p.Gly4373Asp) c.13142G>A (p.Gly4381Asp) c.13196G>A (p.Gly4399Asp) c.13088G>A (p.Gly4363Asp) c.13265G>A (p.Gly4422Asp) c.13253G>A (p.Gly4418Asp) c.13610G>A (p.Gly4537Asp) c.13211G>A (p.Gly4404Asp) c.13199G>A (p.Gly4400Asp) c.13157G>A (p.Gly4386Asp) c.13133G>A (p.Gly4378Asp) c.13103G>A (p.Gly4368Asp) c.13280G>A (p.Gly4427Asp) c.13130G>A (p.Gly4377Asp) c.9830G>A (p.Gly3277Asp) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143916638C>A | CA372476115 | PLEC | c.13315G>T (p.Gly4439Cys) c.13234G>T (p.Gly4412Cys) c.12901G>T (p.Gly4301Cys) c.13114G>T (p.Gly4372Cys) c.13183G>T (p.Gly4395Cys) c.9883G>T (p.Gly3295Cys) c.13594G>T (p.Gly4532Cys) c.13117G>T (p.Gly4373Cys) c.13141G>T (p.Gly4381Cys) c.13195G>T (p.Gly4399Cys) c.13087G>T (p.Gly4363Cys) c.13264G>T (p.Gly4422Cys) c.13252G>T (p.Gly4418Cys) c.13609G>T (p.Gly4537Cys) c.13210G>T (p.Gly4404Cys) c.13198G>T (p.Gly4400Cys) c.13156G>T (p.Gly4386Cys) c.13132G>T (p.Gly4378Cys) c.13102G>T (p.Gly4368Cys) c.13279G>T (p.Gly4427Cys) c.13129G>T (p.Gly4377Cys) c.9829G>T (p.Gly3277Cys) | |
| 8 | g.143916638C>G | CA372476120 | PLEC | c.13315G>C (p.Gly4439Arg) c.13234G>C (p.Gly4412Arg) c.12901G>C (p.Gly4301Arg) c.13114G>C (p.Gly4372Arg) c.13183G>C (p.Gly4395Arg) c.9883G>C (p.Gly3295Arg) c.13594G>C (p.Gly4532Arg) c.13117G>C (p.Gly4373Arg) c.13141G>C (p.Gly4381Arg) c.13195G>C (p.Gly4399Arg) c.13087G>C (p.Gly4363Arg) c.13264G>C (p.Gly4422Arg) c.13252G>C (p.Gly4418Arg) c.13609G>C (p.Gly4537Arg) c.13210G>C (p.Gly4404Arg) c.13198G>C (p.Gly4400Arg) c.13156G>C (p.Gly4386Arg) c.13132G>C (p.Gly4378Arg) c.13102G>C (p.Gly4368Arg) c.13279G>C (p.Gly4427Arg) c.13129G>C (p.Gly4377Arg) c.9829G>C (p.Gly3277Arg) | |
| 8 | g.143916638C>T | CA372476122 | PLEC | c.13315G>A (p.Gly4439Ser) c.13234G>A (p.Gly4412Ser) c.12901G>A (p.Gly4301Ser) c.13114G>A (p.Gly4372Ser) c.13183G>A (p.Gly4395Ser) c.9883G>A (p.Gly3295Ser) c.13594G>A (p.Gly4532Ser) c.13117G>A (p.Gly4373Ser) c.13141G>A (p.Gly4381Ser) c.13195G>A (p.Gly4399Ser) c.13087G>A (p.Gly4363Ser) c.13264G>A (p.Gly4422Ser) c.13252G>A (p.Gly4418Ser) c.13609G>A (p.Gly4537Ser) c.13210G>A (p.Gly4404Ser) c.13198G>A (p.Gly4400Ser) c.13156G>A (p.Gly4386Ser) c.13132G>A (p.Gly4378Ser) c.13102G>A (p.Gly4368Ser) c.13279G>A (p.Gly4427Ser) c.13129G>A (p.Gly4377Ser) c.9829G>A (p.Gly3277Ser) | gnomAD v4 |
| 8 | g.143916639G>A | CA4923893 | PLEC | c.13314C>T (p.Thr4438=) c.13233C>T (p.Thr4411=) c.12900C>T (p.Thr4300=) c.13113C>T (p.Thr4371=) c.13182C>T (p.Thr4394=) c.9882C>T (p.Thr3294=) c.13593C>T (p.Thr4531=) c.13116C>T (p.Thr4372=) c.13140C>T (p.Thr4380=) c.13194C>T (p.Thr4398=) c.13086C>T (p.Thr4362=) c.13263C>T (p.Thr4421=) c.13251C>T (p.Thr4417=) c.13608C>T (p.Thr4536=) c.13209C>T (p.Thr4403=) c.13197C>T (p.Thr4399=) c.13155C>T (p.Thr4385=) c.13131C>T (p.Thr4377=) c.13101C>T (p.Thr4367=) c.13278C>T (p.Thr4426=) c.13128C>T (p.Thr4376=) c.9828C>T (p.Thr3276=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916639G>C | CA463525879 | PLEC | c.13314C>G (p.Thr4438=) c.13233C>G (p.Thr4411=) c.12900C>G (p.Thr4300=) c.13113C>G (p.Thr4371=) c.13182C>G (p.Thr4394=) c.9882C>G (p.Thr3294=) c.13593C>G (p.Thr4531=) c.13116C>G (p.Thr4372=) c.13140C>G (p.Thr4380=) c.13194C>G (p.Thr4398=) c.13086C>G (p.Thr4362=) c.13263C>G (p.Thr4421=) c.13251C>G (p.Thr4417=) c.13608C>G (p.Thr4536=) c.13209C>G (p.Thr4403=) c.13197C>G (p.Thr4399=) c.13155C>G (p.Thr4385=) c.13131C>G (p.Thr4377=) c.13101C>G (p.Thr4367=) c.13278C>G (p.Thr4426=) c.13128C>G (p.Thr4376=) c.9828C>G (p.Thr3276=) | |
| 8 | g.143916639G= | CA1826037514 | PLEC | c.13314C= (p.Thr4438=) c.13233C= (p.Thr4411=) c.12900C= (p.Thr4300=) c.13113C= (p.Thr4371=) c.13182C= (p.Thr4394=) c.9882C= (p.Thr3294=) c.13593C= (p.Thr4531=) c.13116C= (p.Thr4372=) c.13140C= (p.Thr4380=) c.13194C= (p.Thr4398=) c.13086C= (p.Thr4362=) c.13263C= (p.Thr4421=) c.13251C= (p.Thr4417=) c.13608C= (p.Thr4536=) c.13209C= (p.Thr4403=) c.13197C= (p.Thr4399=) c.13155C= (p.Thr4385=) c.13131C= (p.Thr4377=) c.13101C= (p.Thr4367=) c.13278C= (p.Thr4426=) c.13128C= (p.Thr4376=) c.9828C= (p.Thr3276=) | |
| 8 | g.143916639G>T | CA463525881 | PLEC | c.13314C>A (p.Thr4438=) c.13233C>A (p.Thr4411=) c.12900C>A (p.Thr4300=) c.13113C>A (p.Thr4371=) c.13182C>A (p.Thr4394=) c.9882C>A (p.Thr3294=) c.13593C>A (p.Thr4531=) c.13116C>A (p.Thr4372=) c.13140C>A (p.Thr4380=) c.13194C>A (p.Thr4398=) c.13086C>A (p.Thr4362=) c.13263C>A (p.Thr4421=) c.13251C>A (p.Thr4417=) c.13608C>A (p.Thr4536=) c.13209C>A (p.Thr4403=) c.13197C>A (p.Thr4399=) c.13155C>A (p.Thr4385=) c.13131C>A (p.Thr4377=) c.13101C>A (p.Thr4367=) c.13278C>A (p.Thr4426=) c.13128C>A (p.Thr4376=) c.9828C>A (p.Thr3276=) | |
| 8 | g.143916640G>A | CA372476125 | PLEC | c.13313C>T (p.Thr4438Ile) c.13232C>T (p.Thr4411Ile) c.12899C>T (p.Thr4300Ile) c.13112C>T (p.Thr4371Ile) c.13181C>T (p.Thr4394Ile) c.9881C>T (p.Thr3294Ile) c.13592C>T (p.Thr4531Ile) c.13115C>T (p.Thr4372Ile) c.13139C>T (p.Thr4380Ile) c.13193C>T (p.Thr4398Ile) c.13085C>T (p.Thr4362Ile) c.13262C>T (p.Thr4421Ile) c.13250C>T (p.Thr4417Ile) c.13607C>T (p.Thr4536Ile) c.13208C>T (p.Thr4403Ile) c.13196C>T (p.Thr4399Ile) c.13154C>T (p.Thr4385Ile) c.13130C>T (p.Thr4377Ile) c.13100C>T (p.Thr4367Ile) c.13277C>T (p.Thr4426Ile) c.13127C>T (p.Thr4376Ile) c.9827C>T (p.Thr3276Ile) | |
| 8 | g.143916640G>C | CA372476128 | PLEC | c.13313C>G (p.Thr4438Ser) c.13232C>G (p.Thr4411Ser) c.12899C>G (p.Thr4300Ser) c.13112C>G (p.Thr4371Ser) c.13181C>G (p.Thr4394Ser) c.9881C>G (p.Thr3294Ser) c.13592C>G (p.Thr4531Ser) c.13115C>G (p.Thr4372Ser) c.13139C>G (p.Thr4380Ser) c.13193C>G (p.Thr4398Ser) c.13085C>G (p.Thr4362Ser) c.13262C>G (p.Thr4421Ser) c.13250C>G (p.Thr4417Ser) c.13607C>G (p.Thr4536Ser) c.13208C>G (p.Thr4403Ser) c.13196C>G (p.Thr4399Ser) c.13154C>G (p.Thr4385Ser) c.13130C>G (p.Thr4377Ser) c.13100C>G (p.Thr4367Ser) c.13277C>G (p.Thr4426Ser) c.13127C>G (p.Thr4376Ser) c.9827C>G (p.Thr3276Ser) | ClinVar dbSNP |
| 8 | g.143916640G= | CA1826037517 | PLEC | c.13313C= (p.Thr4438=) c.13232C= (p.Thr4411=) c.12899C= (p.Thr4300=) c.13112C= (p.Thr4371=) c.13181C= (p.Thr4394=) c.9881C= (p.Thr3294=) c.13592C= (p.Thr4531=) c.13115C= (p.Thr4372=) c.13139C= (p.Thr4380=) c.13193C= (p.Thr4398=) c.13085C= (p.Thr4362=) c.13262C= (p.Thr4421=) c.13250C= (p.Thr4417=) c.13607C= (p.Thr4536=) c.13208C= (p.Thr4403=) c.13196C= (p.Thr4399=) c.13154C= (p.Thr4385=) c.13130C= (p.Thr4377=) c.13100C= (p.Thr4367=) c.13277C= (p.Thr4426=) c.13127C= (p.Thr4376=) c.9827C= (p.Thr3276=) | |
| 8 | g.143916640G>T | CA372476131 | PLEC | c.13313C>A (p.Thr4438Asn) c.13232C>A (p.Thr4411Asn) c.12899C>A (p.Thr4300Asn) c.13112C>A (p.Thr4371Asn) c.13181C>A (p.Thr4394Asn) c.9881C>A (p.Thr3294Asn) c.13592C>A (p.Thr4531Asn) c.13115C>A (p.Thr4372Asn) c.13139C>A (p.Thr4380Asn) c.13193C>A (p.Thr4398Asn) c.13085C>A (p.Thr4362Asn) c.13262C>A (p.Thr4421Asn) c.13250C>A (p.Thr4417Asn) c.13607C>A (p.Thr4536Asn) c.13208C>A (p.Thr4403Asn) c.13196C>A (p.Thr4399Asn) c.13154C>A (p.Thr4385Asn) c.13130C>A (p.Thr4377Asn) c.13100C>A (p.Thr4367Asn) c.13277C>A (p.Thr4426Asn) c.13127C>A (p.Thr4376Asn) c.9827C>A (p.Thr3276Asn) | |
| 8 | g.143916641T>A | CA372476134 | PLEC | c.13312A>T (p.Thr4438Ser) c.13231A>T (p.Thr4411Ser) c.12898A>T (p.Thr4300Ser) c.13111A>T (p.Thr4371Ser) c.13180A>T (p.Thr4394Ser) c.9880A>T (p.Thr3294Ser) c.13591A>T (p.Thr4531Ser) c.13114A>T (p.Thr4372Ser) c.13138A>T (p.Thr4380Ser) c.13192A>T (p.Thr4398Ser) c.13084A>T (p.Thr4362Ser) c.13261A>T (p.Thr4421Ser) c.13249A>T (p.Thr4417Ser) c.13606A>T (p.Thr4536Ser) c.13207A>T (p.Thr4403Ser) c.13195A>T (p.Thr4399Ser) c.13153A>T (p.Thr4385Ser) c.13129A>T (p.Thr4377Ser) c.13099A>T (p.Thr4367Ser) c.13276A>T (p.Thr4426Ser) c.13126A>T (p.Thr4376Ser) c.9826A>T (p.Thr3276Ser) | gnomAD v4 |
| 8 | g.143916641T>C | CA372476140 | PLEC | c.13312A>G (p.Thr4438Ala) c.13231A>G (p.Thr4411Ala) c.12898A>G (p.Thr4300Ala) c.13111A>G (p.Thr4371Ala) c.13180A>G (p.Thr4394Ala) c.9880A>G (p.Thr3294Ala) c.13591A>G (p.Thr4531Ala) c.13114A>G (p.Thr4372Ala) c.13138A>G (p.Thr4380Ala) c.13192A>G (p.Thr4398Ala) c.13084A>G (p.Thr4362Ala) c.13261A>G (p.Thr4421Ala) c.13249A>G (p.Thr4417Ala) c.13606A>G (p.Thr4536Ala) c.13207A>G (p.Thr4403Ala) c.13195A>G (p.Thr4399Ala) c.13153A>G (p.Thr4385Ala) c.13129A>G (p.Thr4377Ala) c.13099A>G (p.Thr4367Ala) c.13276A>G (p.Thr4426Ala) c.13126A>G (p.Thr4376Ala) c.9826A>G (p.Thr3276Ala) | |
| 8 | g.143916641T>G | CA372476142 | PLEC | c.13312A>C (p.Thr4438Pro) c.13231A>C (p.Thr4411Pro) c.12898A>C (p.Thr4300Pro) c.13111A>C (p.Thr4371Pro) c.13180A>C (p.Thr4394Pro) c.9880A>C (p.Thr3294Pro) c.13591A>C (p.Thr4531Pro) c.13114A>C (p.Thr4372Pro) c.13138A>C (p.Thr4380Pro) c.13192A>C (p.Thr4398Pro) c.13084A>C (p.Thr4362Pro) c.13261A>C (p.Thr4421Pro) c.13249A>C (p.Thr4417Pro) c.13606A>C (p.Thr4536Pro) c.13207A>C (p.Thr4403Pro) c.13195A>C (p.Thr4399Pro) c.13153A>C (p.Thr4385Pro) c.13129A>C (p.Thr4377Pro) c.13099A>C (p.Thr4367Pro) c.13276A>C (p.Thr4426Pro) c.13126A>C (p.Thr4376Pro) c.9826A>C (p.Thr3276Pro) | |
| 8 | g.143916642C>A | CA463525886 | PLEC | c.13311G>T (p.Leu4437=) c.13230G>T (p.Leu4410=) c.12897G>T (p.Leu4299=) c.13110G>T (p.Leu4370=) c.13179G>T (p.Leu4393=) c.9879G>T (p.Leu3293=) c.13590G>T (p.Leu4530=) c.13113G>T (p.Leu4371=) c.13137G>T (p.Leu4379=) c.13191G>T (p.Leu4397=) c.13083G>T (p.Leu4361=) c.13260G>T (p.Leu4420=) c.13248G>T (p.Leu4416=) c.13605G>T (p.Leu4535=) c.13206G>T (p.Leu4402=) c.13194G>T (p.Leu4398=) c.13152G>T (p.Leu4384=) c.13128G>T (p.Leu4376=) c.13098G>T (p.Leu4366=) c.13275G>T (p.Leu4425=) c.13125G>T (p.Leu4375=) c.9825G>T (p.Leu3275=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.143916642C>G | CA463525882 | PLEC | c.13311G>C (p.Leu4437=) c.13230G>C (p.Leu4410=) c.12897G>C (p.Leu4299=) c.13110G>C (p.Leu4370=) c.13179G>C (p.Leu4393=) c.9879G>C (p.Leu3293=) c.13590G>C (p.Leu4530=) c.13113G>C (p.Leu4371=) c.13137G>C (p.Leu4379=) c.13191G>C (p.Leu4397=) c.13083G>C (p.Leu4361=) c.13260G>C (p.Leu4420=) c.13248G>C (p.Leu4416=) c.13605G>C (p.Leu4535=) c.13206G>C (p.Leu4402=) c.13194G>C (p.Leu4398=) c.13152G>C (p.Leu4384=) c.13128G>C (p.Leu4376=) c.13098G>C (p.Leu4366=) c.13275G>C (p.Leu4425=) c.13125G>C (p.Leu4375=) c.9825G>C (p.Leu3275=) | |
| 8 | g.143916642C>T | CA463525884 | PLEC | c.13311G>A (p.Leu4437=) c.13230G>A (p.Leu4410=) c.12897G>A (p.Leu4299=) c.13110G>A (p.Leu4370=) c.13179G>A (p.Leu4393=) c.9879G>A (p.Leu3293=) c.13590G>A (p.Leu4530=) c.13113G>A (p.Leu4371=) c.13137G>A (p.Leu4379=) c.13191G>A (p.Leu4397=) c.13083G>A (p.Leu4361=) c.13260G>A (p.Leu4420=) c.13248G>A (p.Leu4416=) c.13605G>A (p.Leu4535=) c.13206G>A (p.Leu4402=) c.13194G>A (p.Leu4398=) c.13152G>A (p.Leu4384=) c.13128G>A (p.Leu4376=) c.13098G>A (p.Leu4366=) c.13275G>A (p.Leu4425=) c.13125G>A (p.Leu4375=) c.9825G>A (p.Leu3275=) | |
| 8 | g.143916643A>C | CA372476153 | PLEC | c.13310T>G (p.Leu4437Arg) c.13229T>G (p.Leu4410Arg) c.12896T>G (p.Leu4299Arg) c.13109T>G (p.Leu4370Arg) c.13178T>G (p.Leu4393Arg) c.9878T>G (p.Leu3293Arg) c.13589T>G (p.Leu4530Arg) c.13112T>G (p.Leu4371Arg) c.13136T>G (p.Leu4379Arg) c.13190T>G (p.Leu4397Arg) c.13082T>G (p.Leu4361Arg) c.13259T>G (p.Leu4420Arg) c.13247T>G (p.Leu4416Arg) c.13604T>G (p.Leu4535Arg) c.13205T>G (p.Leu4402Arg) c.13193T>G (p.Leu4398Arg) c.13151T>G (p.Leu4384Arg) c.13127T>G (p.Leu4376Arg) c.13097T>G (p.Leu4366Arg) c.13274T>G (p.Leu4425Arg) c.13124T>G (p.Leu4375Arg) c.9824T>G (p.Leu3275Arg) | |
| 8 | g.143916643A>G | CA372476149 | PLEC | c.13310T>C (p.Leu4437Pro) c.13229T>C (p.Leu4410Pro) c.12896T>C (p.Leu4299Pro) c.13109T>C (p.Leu4370Pro) c.13178T>C (p.Leu4393Pro) c.9878T>C (p.Leu3293Pro) c.13589T>C (p.Leu4530Pro) c.13112T>C (p.Leu4371Pro) c.13136T>C (p.Leu4379Pro) c.13190T>C (p.Leu4397Pro) c.13082T>C (p.Leu4361Pro) c.13259T>C (p.Leu4420Pro) c.13247T>C (p.Leu4416Pro) c.13604T>C (p.Leu4535Pro) c.13205T>C (p.Leu4402Pro) c.13193T>C (p.Leu4398Pro) c.13151T>C (p.Leu4384Pro) c.13127T>C (p.Leu4376Pro) c.13097T>C (p.Leu4366Pro) c.13274T>C (p.Leu4425Pro) c.13124T>C (p.Leu4375Pro) c.9824T>C (p.Leu3275Pro) | |
| 8 | g.143916643A>T | CA372476147 | PLEC | c.13310T>A (p.Leu4437Gln) c.13229T>A (p.Leu4410Gln) c.12896T>A (p.Leu4299Gln) c.13109T>A (p.Leu4370Gln) c.13178T>A (p.Leu4393Gln) c.9878T>A (p.Leu3293Gln) c.13589T>A (p.Leu4530Gln) c.13112T>A (p.Leu4371Gln) c.13136T>A (p.Leu4379Gln) c.13190T>A (p.Leu4397Gln) c.13082T>A (p.Leu4361Gln) c.13259T>A (p.Leu4420Gln) c.13247T>A (p.Leu4416Gln) c.13604T>A (p.Leu4535Gln) c.13205T>A (p.Leu4402Gln) c.13193T>A (p.Leu4398Gln) c.13151T>A (p.Leu4384Gln) c.13127T>A (p.Leu4376Gln) c.13097T>A (p.Leu4366Gln) c.13274T>A (p.Leu4425Gln) c.13124T>A (p.Leu4375Gln) c.9824T>A (p.Leu3275Gln) | |
| 8 | g.143916644G>A | CA463525888 | PLEC | c.13309C>T (p.Leu4437=) c.13228C>T (p.Leu4410=) c.12895C>T (p.Leu4299=) c.13108C>T (p.Leu4370=) c.13177C>T (p.Leu4393=) c.9877C>T (p.Leu3293=) c.13588C>T (p.Leu4530=) c.13111C>T (p.Leu4371=) c.13135C>T (p.Leu4379=) c.13189C>T (p.Leu4397=) c.13081C>T (p.Leu4361=) c.13258C>T (p.Leu4420=) c.13246C>T (p.Leu4416=) c.13603C>T (p.Leu4535=) c.13204C>T (p.Leu4402=) c.13192C>T (p.Leu4398=) c.13150C>T (p.Leu4384=) c.13126C>T (p.Leu4376=) c.13096C>T (p.Leu4366=) c.13273C>T (p.Leu4425=) c.13123C>T (p.Leu4375=) c.9823C>T (p.Leu3275=) | |
| 8 | g.143916644G>C | CA372476156 | PLEC | c.13309C>G (p.Leu4437Val) c.13228C>G (p.Leu4410Val) c.12895C>G (p.Leu4299Val) c.13108C>G (p.Leu4370Val) c.13177C>G (p.Leu4393Val) c.9877C>G (p.Leu3293Val) c.13588C>G (p.Leu4530Val) c.13111C>G (p.Leu4371Val) c.13135C>G (p.Leu4379Val) c.13189C>G (p.Leu4397Val) c.13081C>G (p.Leu4361Val) c.13258C>G (p.Leu4420Val) c.13246C>G (p.Leu4416Val) c.13603C>G (p.Leu4535Val) c.13204C>G (p.Leu4402Val) c.13192C>G (p.Leu4398Val) c.13150C>G (p.Leu4384Val) c.13126C>G (p.Leu4376Val) c.13096C>G (p.Leu4366Val) c.13273C>G (p.Leu4425Val) c.13123C>G (p.Leu4375Val) c.9823C>G (p.Leu3275Val) | |
| 8 | g.143916644G>T | CA372476157 | PLEC | c.13309C>A (p.Leu4437Met) c.13228C>A (p.Leu4410Met) c.12895C>A (p.Leu4299Met) c.13108C>A (p.Leu4370Met) c.13177C>A (p.Leu4393Met) c.9877C>A (p.Leu3293Met) c.13588C>A (p.Leu4530Met) c.13111C>A (p.Leu4371Met) c.13135C>A (p.Leu4379Met) c.13189C>A (p.Leu4397Met) c.13081C>A (p.Leu4361Met) c.13258C>A (p.Leu4420Met) c.13246C>A (p.Leu4416Met) c.13603C>A (p.Leu4535Met) c.13204C>A (p.Leu4402Met) c.13192C>A (p.Leu4398Met) c.13150C>A (p.Leu4384Met) c.13126C>A (p.Leu4376Met) c.13096C>A (p.Leu4366Met) c.13273C>A (p.Leu4425Met) c.13123C>A (p.Leu4375Met) c.9823C>A (p.Leu3275Met) | |
| 8 | g.143916645G>A | CA463525889 | PLEC | c.13308C>T (p.Tyr4436=) c.13227C>T (p.Tyr4409=) c.12894C>T (p.Tyr4298=) c.13107C>T (p.Tyr4369=) c.13176C>T (p.Tyr4392=) c.9876C>T (p.Tyr3292=) c.13587C>T (p.Tyr4529=) c.13110C>T (p.Tyr4370=) c.13134C>T (p.Tyr4378=) c.13188C>T (p.Tyr4396=) c.13080C>T (p.Tyr4360=) c.13257C>T (p.Tyr4419=) c.13245C>T (p.Tyr4415=) c.13602C>T (p.Tyr4534=) c.13203C>T (p.Tyr4401=) c.13191C>T (p.Tyr4397=) c.13149C>T (p.Tyr4383=) c.13125C>T (p.Tyr4375=) c.13095C>T (p.Tyr4365=) c.13272C>T (p.Tyr4424=) c.13122C>T (p.Tyr4374=) c.9822C>T (p.Tyr3274=) | gnomAD v4 |
| 8 | g.143916645G>C | CA372476160 | PLEC | c.13308C>G (p.Tyr4436Ter) c.13227C>G (p.Tyr4409Ter) c.12894C>G (p.Tyr4298Ter) c.13107C>G (p.Tyr4369Ter) c.13176C>G (p.Tyr4392Ter) c.9876C>G (p.Tyr3292Ter) c.13587C>G (p.Tyr4529Ter) c.13110C>G (p.Tyr4370Ter) c.13134C>G (p.Tyr4378Ter) c.13188C>G (p.Tyr4396Ter) c.13080C>G (p.Tyr4360Ter) c.13257C>G (p.Tyr4419Ter) c.13245C>G (p.Tyr4415Ter) c.13602C>G (p.Tyr4534Ter) c.13203C>G (p.Tyr4401Ter) c.13191C>G (p.Tyr4397Ter) c.13149C>G (p.Tyr4383Ter) c.13125C>G (p.Tyr4375Ter) c.13095C>G (p.Tyr4365Ter) c.13272C>G (p.Tyr4424Ter) c.13122C>G (p.Tyr4374Ter) c.9822C>G (p.Tyr3274Ter) | |
| 8 | g.143916645G>T | CA372476161 | PLEC | c.13308C>A (p.Tyr4436Ter) c.13227C>A (p.Tyr4409Ter) c.12894C>A (p.Tyr4298Ter) c.13107C>A (p.Tyr4369Ter) c.13176C>A (p.Tyr4392Ter) c.9876C>A (p.Tyr3292Ter) c.13587C>A (p.Tyr4529Ter) c.13110C>A (p.Tyr4370Ter) c.13134C>A (p.Tyr4378Ter) c.13188C>A (p.Tyr4396Ter) c.13080C>A (p.Tyr4360Ter) c.13257C>A (p.Tyr4419Ter) c.13245C>A (p.Tyr4415Ter) c.13602C>A (p.Tyr4534Ter) c.13203C>A (p.Tyr4401Ter) c.13191C>A (p.Tyr4397Ter) c.13149C>A (p.Tyr4383Ter) c.13125C>A (p.Tyr4375Ter) c.13095C>A (p.Tyr4365Ter) c.13272C>A (p.Tyr4424Ter) c.13122C>A (p.Tyr4374Ter) c.9822C>A (p.Tyr3274Ter) | |
| 8 | g.143916646T>A | CA372476163 | PLEC | c.13307A>T (p.Tyr4436Phe) c.13226A>T (p.Tyr4409Phe) c.12893A>T (p.Tyr4298Phe) c.13106A>T (p.Tyr4369Phe) c.13175A>T (p.Tyr4392Phe) c.9875A>T (p.Tyr3292Phe) c.13586A>T (p.Tyr4529Phe) c.13109A>T (p.Tyr4370Phe) c.13133A>T (p.Tyr4378Phe) c.13187A>T (p.Tyr4396Phe) c.13079A>T (p.Tyr4360Phe) c.13256A>T (p.Tyr4419Phe) c.13244A>T (p.Tyr4415Phe) c.13601A>T (p.Tyr4534Phe) c.13202A>T (p.Tyr4401Phe) c.13190A>T (p.Tyr4397Phe) c.13148A>T (p.Tyr4383Phe) c.13124A>T (p.Tyr4375Phe) c.13094A>T (p.Tyr4365Phe) c.13271A>T (p.Tyr4424Phe) c.13121A>T (p.Tyr4374Phe) c.9821A>T (p.Tyr3274Phe) | |
| 8 | g.143916646T>C | CA372476166 | PLEC | c.13307A>G (p.Tyr4436Cys) c.13226A>G (p.Tyr4409Cys) c.12893A>G (p.Tyr4298Cys) c.13106A>G (p.Tyr4369Cys) c.13175A>G (p.Tyr4392Cys) c.9875A>G (p.Tyr3292Cys) c.13586A>G (p.Tyr4529Cys) c.13109A>G (p.Tyr4370Cys) c.13133A>G (p.Tyr4378Cys) c.13187A>G (p.Tyr4396Cys) c.13079A>G (p.Tyr4360Cys) c.13256A>G (p.Tyr4419Cys) c.13244A>G (p.Tyr4415Cys) c.13601A>G (p.Tyr4534Cys) c.13202A>G (p.Tyr4401Cys) c.13190A>G (p.Tyr4397Cys) c.13148A>G (p.Tyr4383Cys) c.13124A>G (p.Tyr4375Cys) c.13094A>G (p.Tyr4365Cys) c.13271A>G (p.Tyr4424Cys) c.13121A>G (p.Tyr4374Cys) c.9821A>G (p.Tyr3274Cys) | |
| 8 | g.143916646T>G | CA372476168 | PLEC | c.13307A>C (p.Tyr4436Ser) c.13226A>C (p.Tyr4409Ser) c.12893A>C (p.Tyr4298Ser) c.13106A>C (p.Tyr4369Ser) c.13175A>C (p.Tyr4392Ser) c.9875A>C (p.Tyr3292Ser) c.13586A>C (p.Tyr4529Ser) c.13109A>C (p.Tyr4370Ser) c.13133A>C (p.Tyr4378Ser) c.13187A>C (p.Tyr4396Ser) c.13079A>C (p.Tyr4360Ser) c.13256A>C (p.Tyr4419Ser) c.13244A>C (p.Tyr4415Ser) c.13601A>C (p.Tyr4534Ser) c.13202A>C (p.Tyr4401Ser) c.13190A>C (p.Tyr4397Ser) c.13148A>C (p.Tyr4383Ser) c.13124A>C (p.Tyr4375Ser) c.13094A>C (p.Tyr4365Ser) c.13271A>C (p.Tyr4424Ser) c.13121A>C (p.Tyr4374Ser) c.9821A>C (p.Tyr3274Ser) | dbSNP |
| 8 | g.143916646T= | CA1826037519 | PLEC | c.13307A= (p.Tyr4436=) c.13226A= (p.Tyr4409=) c.12893A= (p.Tyr4298=) c.13106A= (p.Tyr4369=) c.13175A= (p.Tyr4392=) c.9875A= (p.Tyr3292=) c.13586A= (p.Tyr4529=) c.13109A= (p.Tyr4370=) c.13133A= (p.Tyr4378=) c.13187A= (p.Tyr4396=) c.13079A= (p.Tyr4360=) c.13256A= (p.Tyr4419=) c.13244A= (p.Tyr4415=) c.13601A= (p.Tyr4534=) c.13202A= (p.Tyr4401=) c.13190A= (p.Tyr4397=) c.13148A= (p.Tyr4383=) c.13124A= (p.Tyr4375=) c.13094A= (p.Tyr4365=) c.13271A= (p.Tyr4424=) c.13121A= (p.Tyr4374=) c.9821A= (p.Tyr3274=) | |
| 8 | g.143916647A>C | CA372476171 | PLEC | c.13306T>G (p.Tyr4436Asp) c.13225T>G (p.Tyr4409Asp) c.12892T>G (p.Tyr4298Asp) c.13105T>G (p.Tyr4369Asp) c.13174T>G (p.Tyr4392Asp) c.9874T>G (p.Tyr3292Asp) c.13585T>G (p.Tyr4529Asp) c.13108T>G (p.Tyr4370Asp) c.13132T>G (p.Tyr4378Asp) c.13186T>G (p.Tyr4396Asp) c.13078T>G (p.Tyr4360Asp) c.13255T>G (p.Tyr4419Asp) c.13243T>G (p.Tyr4415Asp) c.13600T>G (p.Tyr4534Asp) c.13201T>G (p.Tyr4401Asp) c.13189T>G (p.Tyr4397Asp) c.13147T>G (p.Tyr4383Asp) c.13123T>G (p.Tyr4375Asp) c.13093T>G (p.Tyr4365Asp) c.13270T>G (p.Tyr4424Asp) c.13120T>G (p.Tyr4374Asp) c.9820T>G (p.Tyr3274Asp) | |
| 8 | g.143916647A>G | CA372476172 | PLEC | c.13306T>C (p.Tyr4436His) c.13225T>C (p.Tyr4409His) c.12892T>C (p.Tyr4298His) c.13105T>C (p.Tyr4369His) c.13174T>C (p.Tyr4392His) c.9874T>C (p.Tyr3292His) c.13585T>C (p.Tyr4529His) c.13108T>C (p.Tyr4370His) c.13132T>C (p.Tyr4378His) c.13186T>C (p.Tyr4396His) c.13078T>C (p.Tyr4360His) c.13255T>C (p.Tyr4419His) c.13243T>C (p.Tyr4415His) c.13600T>C (p.Tyr4534His) c.13201T>C (p.Tyr4401His) c.13189T>C (p.Tyr4397His) c.13147T>C (p.Tyr4383His) c.13123T>C (p.Tyr4375His) c.13093T>C (p.Tyr4365His) c.13270T>C (p.Tyr4424His) c.13120T>C (p.Tyr4374His) c.9820T>C (p.Tyr3274His) | gnomAD v4 |
| 8 | g.143916647A>T | CA372476173 | PLEC | c.13306T>A (p.Tyr4436Asn) c.13225T>A (p.Tyr4409Asn) c.12892T>A (p.Tyr4298Asn) c.13105T>A (p.Tyr4369Asn) c.13174T>A (p.Tyr4392Asn) c.9874T>A (p.Tyr3292Asn) c.13585T>A (p.Tyr4529Asn) c.13108T>A (p.Tyr4370Asn) c.13132T>A (p.Tyr4378Asn) c.13186T>A (p.Tyr4396Asn) c.13078T>A (p.Tyr4360Asn) c.13255T>A (p.Tyr4419Asn) c.13243T>A (p.Tyr4415Asn) c.13600T>A (p.Tyr4534Asn) c.13201T>A (p.Tyr4401Asn) c.13189T>A (p.Tyr4397Asn) c.13147T>A (p.Tyr4383Asn) c.13123T>A (p.Tyr4375Asn) c.13093T>A (p.Tyr4365Asn) c.13270T>A (p.Tyr4424Asn) c.13120T>A (p.Tyr4374Asn) c.9820T>A (p.Tyr3274Asn) | |
| 8 | g.143916648C>A | CA372476174 | PLEC | c.13305G>T (p.Gln4435His) c.13224G>T (p.Gln4408His) c.12891G>T (p.Gln4297His) c.13104G>T (p.Gln4368His) c.13173G>T (p.Gln4391His) c.9873G>T (p.Gln3291His) c.13584G>T (p.Gln4528His) c.13107G>T (p.Gln4369His) c.13131G>T (p.Gln4377His) c.13185G>T (p.Gln4395His) c.13077G>T (p.Gln4359His) c.13254G>T (p.Gln4418His) c.13242G>T (p.Gln4414His) c.13599G>T (p.Gln4533His) c.13200G>T (p.Gln4400His) c.13188G>T (p.Gln4396His) c.13146G>T (p.Gln4382His) c.13122G>T (p.Gln4374His) c.13092G>T (p.Gln4364His) c.13269G>T (p.Gln4423His) c.13119G>T (p.Gln4373His) c.9819G>T (p.Gln3273His) | |
| 8 | g.143916648C>G | CA372476176 | PLEC | c.13305G>C (p.Gln4435His) c.13224G>C (p.Gln4408His) c.12891G>C (p.Gln4297His) c.13104G>C (p.Gln4368His) c.13173G>C (p.Gln4391His) c.9873G>C (p.Gln3291His) c.13584G>C (p.Gln4528His) c.13107G>C (p.Gln4369His) c.13131G>C (p.Gln4377His) c.13185G>C (p.Gln4395His) c.13077G>C (p.Gln4359His) c.13254G>C (p.Gln4418His) c.13242G>C (p.Gln4414His) c.13599G>C (p.Gln4533His) c.13200G>C (p.Gln4400His) c.13188G>C (p.Gln4396His) c.13146G>C (p.Gln4382His) c.13122G>C (p.Gln4374His) c.13092G>C (p.Gln4364His) c.13269G>C (p.Gln4423His) c.13119G>C (p.Gln4373His) c.9819G>C (p.Gln3273His) | |
| 8 | g.143916648C>T | CA463525890 | PLEC | c.13305G>A (p.Gln4435=) c.13224G>A (p.Gln4408=) c.12891G>A (p.Gln4297=) c.13104G>A (p.Gln4368=) c.13173G>A (p.Gln4391=) c.9873G>A (p.Gln3291=) c.13584G>A (p.Gln4528=) c.13107G>A (p.Gln4369=) c.13131G>A (p.Gln4377=) c.13185G>A (p.Gln4395=) c.13077G>A (p.Gln4359=) c.13254G>A (p.Gln4418=) c.13242G>A (p.Gln4414=) c.13599G>A (p.Gln4533=) c.13200G>A (p.Gln4400=) c.13188G>A (p.Gln4396=) c.13146G>A (p.Gln4382=) c.13122G>A (p.Gln4374=) c.13092G>A (p.Gln4364=) c.13269G>A (p.Gln4423=) c.13119G>A (p.Gln4373=) c.9819G>A (p.Gln3273=) | gnomAD v4 |
| 8 | g.143916649T>A | CA372476181 | PLEC | c.13304A>T (p.Gln4435Leu) c.13223A>T (p.Gln4408Leu) c.12890A>T (p.Gln4297Leu) c.13103A>T (p.Gln4368Leu) c.13172A>T (p.Gln4391Leu) c.9872A>T (p.Gln3291Leu) c.13583A>T (p.Gln4528Leu) c.13106A>T (p.Gln4369Leu) c.13130A>T (p.Gln4377Leu) c.13184A>T (p.Gln4395Leu) c.13076A>T (p.Gln4359Leu) c.13253A>T (p.Gln4418Leu) c.13241A>T (p.Gln4414Leu) c.13598A>T (p.Gln4533Leu) c.13199A>T (p.Gln4400Leu) c.13187A>T (p.Gln4396Leu) c.13145A>T (p.Gln4382Leu) c.13121A>T (p.Gln4374Leu) c.13091A>T (p.Gln4364Leu) c.13268A>T (p.Gln4423Leu) c.13118A>T (p.Gln4373Leu) c.9818A>T (p.Gln3273Leu) | |
| 8 | g.143916649T>C | CA372476185 | PLEC | c.13304A>G (p.Gln4435Arg) c.13223A>G (p.Gln4408Arg) c.12890A>G (p.Gln4297Arg) c.13103A>G (p.Gln4368Arg) c.13172A>G (p.Gln4391Arg) c.9872A>G (p.Gln3291Arg) c.13583A>G (p.Gln4528Arg) c.13106A>G (p.Gln4369Arg) c.13130A>G (p.Gln4377Arg) c.13184A>G (p.Gln4395Arg) c.13076A>G (p.Gln4359Arg) c.13253A>G (p.Gln4418Arg) c.13241A>G (p.Gln4414Arg) c.13598A>G (p.Gln4533Arg) c.13199A>G (p.Gln4400Arg) c.13187A>G (p.Gln4396Arg) c.13145A>G (p.Gln4382Arg) c.13121A>G (p.Gln4374Arg) c.13091A>G (p.Gln4364Arg) c.13268A>G (p.Gln4423Arg) c.13118A>G (p.Gln4373Arg) c.9818A>G (p.Gln3273Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916649T>G | CA372476178 | PLEC | c.13304A>C (p.Gln4435Pro) c.13223A>C (p.Gln4408Pro) c.12890A>C (p.Gln4297Pro) c.13103A>C (p.Gln4368Pro) c.13172A>C (p.Gln4391Pro) c.9872A>C (p.Gln3291Pro) c.13583A>C (p.Gln4528Pro) c.13106A>C (p.Gln4369Pro) c.13130A>C (p.Gln4377Pro) c.13184A>C (p.Gln4395Pro) c.13076A>C (p.Gln4359Pro) c.13253A>C (p.Gln4418Pro) c.13241A>C (p.Gln4414Pro) c.13598A>C (p.Gln4533Pro) c.13199A>C (p.Gln4400Pro) c.13187A>C (p.Gln4396Pro) c.13145A>C (p.Gln4382Pro) c.13121A>C (p.Gln4374Pro) c.13091A>C (p.Gln4364Pro) c.13268A>C (p.Gln4423Pro) c.13118A>C (p.Gln4373Pro) c.9818A>C (p.Gln3273Pro) | |
| 8 | g.143916649T= | CA1826037522 | PLEC | c.13304A= (p.Gln4435=) c.13223A= (p.Gln4408=) c.12890A= (p.Gln4297=) c.13103A= (p.Gln4368=) c.13172A= (p.Gln4391=) c.9872A= (p.Gln3291=) c.13583A= (p.Gln4528=) c.13106A= (p.Gln4369=) c.13130A= (p.Gln4377=) c.13184A= (p.Gln4395=) c.13076A= (p.Gln4359=) c.13253A= (p.Gln4418=) c.13241A= (p.Gln4414=) c.13598A= (p.Gln4533=) c.13199A= (p.Gln4400=) c.13187A= (p.Gln4396=) c.13145A= (p.Gln4382=) c.13121A= (p.Gln4374=) c.13091A= (p.Gln4364=) c.13268A= (p.Gln4423=) c.13118A= (p.Gln4373=) c.9818A= (p.Gln3273=) | |
| 8 | g.143916650G>A | CA372476188 | PLEC | c.13303C>T (p.Gln4435Ter) c.13222C>T (p.Gln4408Ter) c.12889C>T (p.Gln4297Ter) c.13102C>T (p.Gln4368Ter) c.13171C>T (p.Gln4391Ter) c.9871C>T (p.Gln3291Ter) c.13582C>T (p.Gln4528Ter) c.13105C>T (p.Gln4369Ter) c.13129C>T (p.Gln4377Ter) c.13183C>T (p.Gln4395Ter) c.13075C>T (p.Gln4359Ter) c.13252C>T (p.Gln4418Ter) c.13240C>T (p.Gln4414Ter) c.13597C>T (p.Gln4533Ter) c.13198C>T (p.Gln4400Ter) c.13186C>T (p.Gln4396Ter) c.13144C>T (p.Gln4382Ter) c.13120C>T (p.Gln4374Ter) c.13090C>T (p.Gln4364Ter) c.13267C>T (p.Gln4423Ter) c.13117C>T (p.Gln4373Ter) c.9817C>T (p.Gln3273Ter) | gnomAD v4 |
| 8 | g.143916650G>C | CA372476191 | PLEC | c.13303C>G (p.Gln4435Glu) c.13222C>G (p.Gln4408Glu) c.12889C>G (p.Gln4297Glu) c.13102C>G (p.Gln4368Glu) c.13171C>G (p.Gln4391Glu) c.9871C>G (p.Gln3291Glu) c.13582C>G (p.Gln4528Glu) c.13105C>G (p.Gln4369Glu) c.13129C>G (p.Gln4377Glu) c.13183C>G (p.Gln4395Glu) c.13075C>G (p.Gln4359Glu) c.13252C>G (p.Gln4418Glu) c.13240C>G (p.Gln4414Glu) c.13597C>G (p.Gln4533Glu) c.13198C>G (p.Gln4400Glu) c.13186C>G (p.Gln4396Glu) c.13144C>G (p.Gln4382Glu) c.13120C>G (p.Gln4374Glu) c.13090C>G (p.Gln4364Glu) c.13267C>G (p.Gln4423Glu) c.13117C>G (p.Gln4373Glu) c.9817C>G (p.Gln3273Glu) | |
| 8 | g.143916650G>T | CA372476193 | PLEC | c.13303C>A (p.Gln4435Lys) c.13222C>A (p.Gln4408Lys) c.12889C>A (p.Gln4297Lys) c.13102C>A (p.Gln4368Lys) c.13171C>A (p.Gln4391Lys) c.9871C>A (p.Gln3291Lys) c.13582C>A (p.Gln4528Lys) c.13105C>A (p.Gln4369Lys) c.13129C>A (p.Gln4377Lys) c.13183C>A (p.Gln4395Lys) c.13075C>A (p.Gln4359Lys) c.13252C>A (p.Gln4418Lys) c.13240C>A (p.Gln4414Lys) c.13597C>A (p.Gln4533Lys) c.13198C>A (p.Gln4400Lys) c.13186C>A (p.Gln4396Lys) c.13144C>A (p.Gln4382Lys) c.13120C>A (p.Gln4374Lys) c.13090C>A (p.Gln4364Lys) c.13267C>A (p.Gln4423Lys) c.13117C>A (p.Gln4373Lys) c.9817C>A (p.Gln3273Lys) | gnomAD v4 |
| 8 | g.143916651C>A | CA463525893 | PLEC | c.13302G>T (p.Val4434=) c.13221G>T (p.Val4407=) c.12888G>T (p.Val4296=) c.13101G>T (p.Val4367=) c.13170G>T (p.Val4390=) c.9870G>T (p.Val3290=) c.13581G>T (p.Val4527=) c.13104G>T (p.Val4368=) c.13128G>T (p.Val4376=) c.13182G>T (p.Val4394=) c.13074G>T (p.Val4358=) c.13251G>T (p.Val4417=) c.13239G>T (p.Val4413=) c.13596G>T (p.Val4532=) c.13197G>T (p.Val4399=) c.13185G>T (p.Val4395=) c.13143G>T (p.Val4381=) c.13119G>T (p.Val4373=) c.13089G>T (p.Val4363=) c.13266G>T (p.Val4422=) c.13116G>T (p.Val4372=) c.9816G>T (p.Val3272=) | |
| 8 | g.143916651C= | CA1826037524 | PLEC | c.13302G= (p.Val4434=) c.13221G= (p.Val4407=) c.12888G= (p.Val4296=) c.13101G= (p.Val4367=) c.13170G= (p.Val4390=) c.9870G= (p.Val3290=) c.13581G= (p.Val4527=) c.13104G= (p.Val4368=) c.13128G= (p.Val4376=) c.13182G= (p.Val4394=) c.13074G= (p.Val4358=) c.13251G= (p.Val4417=) c.13239G= (p.Val4413=) c.13596G= (p.Val4532=) c.13197G= (p.Val4399=) c.13185G= (p.Val4395=) c.13143G= (p.Val4381=) c.13119G= (p.Val4373=) c.13089G= (p.Val4363=) c.13266G= (p.Val4422=) c.13116G= (p.Val4372=) c.9816G= (p.Val3272=) | |
| 8 | g.143916651C>G | CA463525892 | PLEC | c.13302G>C (p.Val4434=) c.13221G>C (p.Val4407=) c.12888G>C (p.Val4296=) c.13101G>C (p.Val4367=) c.13170G>C (p.Val4390=) c.9870G>C (p.Val3290=) c.13581G>C (p.Val4527=) c.13104G>C (p.Val4368=) c.13128G>C (p.Val4376=) c.13182G>C (p.Val4394=) c.13074G>C (p.Val4358=) c.13251G>C (p.Val4417=) c.13239G>C (p.Val4413=) c.13596G>C (p.Val4532=) c.13197G>C (p.Val4399=) c.13185G>C (p.Val4395=) c.13143G>C (p.Val4381=) c.13119G>C (p.Val4373=) c.13089G>C (p.Val4363=) c.13266G>C (p.Val4422=) c.13116G>C (p.Val4372=) c.9816G>C (p.Val3272=) | |
| 8 | g.143916651C>T | CA463525891 | PLEC | c.13302G>A (p.Val4434=) c.13221G>A (p.Val4407=) c.12888G>A (p.Val4296=) c.13101G>A (p.Val4367=) c.13170G>A (p.Val4390=) c.9870G>A (p.Val3290=) c.13581G>A (p.Val4527=) c.13104G>A (p.Val4368=) c.13128G>A (p.Val4376=) c.13182G>A (p.Val4394=) c.13074G>A (p.Val4358=) c.13251G>A (p.Val4417=) c.13239G>A (p.Val4413=) c.13596G>A (p.Val4532=) c.13197G>A (p.Val4399=) c.13185G>A (p.Val4395=) c.13143G>A (p.Val4381=) c.13119G>A (p.Val4373=) c.13089G>A (p.Val4363=) c.13266G>A (p.Val4422=) c.13116G>A (p.Val4372=) c.9816G>A (p.Val3272=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916652A>C | CA372476195 | PLEC | c.13301T>G (p.Val4434Gly) c.13220T>G (p.Val4407Gly) c.12887T>G (p.Val4296Gly) c.13100T>G (p.Val4367Gly) c.13169T>G (p.Val4390Gly) c.9869T>G (p.Val3290Gly) c.13580T>G (p.Val4527Gly) c.13103T>G (p.Val4368Gly) c.13127T>G (p.Val4376Gly) c.13181T>G (p.Val4394Gly) c.13073T>G (p.Val4358Gly) c.13250T>G (p.Val4417Gly) c.13238T>G (p.Val4413Gly) c.13595T>G (p.Val4532Gly) c.13196T>G (p.Val4399Gly) c.13184T>G (p.Val4395Gly) c.13142T>G (p.Val4381Gly) c.13118T>G (p.Val4373Gly) c.13088T>G (p.Val4363Gly) c.13265T>G (p.Val4422Gly) c.13115T>G (p.Val4372Gly) c.9815T>G (p.Val3272Gly) | |
| 8 | g.143916652A>G | CA372476197 | PLEC | c.13301T>C (p.Val4434Ala) c.13220T>C (p.Val4407Ala) c.12887T>C (p.Val4296Ala) c.13100T>C (p.Val4367Ala) c.13169T>C (p.Val4390Ala) c.9869T>C (p.Val3290Ala) c.13580T>C (p.Val4527Ala) c.13103T>C (p.Val4368Ala) c.13127T>C (p.Val4376Ala) c.13181T>C (p.Val4394Ala) c.13073T>C (p.Val4358Ala) c.13250T>C (p.Val4417Ala) c.13238T>C (p.Val4413Ala) c.13595T>C (p.Val4532Ala) c.13196T>C (p.Val4399Ala) c.13184T>C (p.Val4395Ala) c.13142T>C (p.Val4381Ala) c.13118T>C (p.Val4373Ala) c.13088T>C (p.Val4363Ala) c.13265T>C (p.Val4422Ala) c.13115T>C (p.Val4372Ala) c.9815T>C (p.Val3272Ala) | |
| 8 | g.143916652A>T | CA372476200 | PLEC | c.13301T>A (p.Val4434Glu) c.13220T>A (p.Val4407Glu) c.12887T>A (p.Val4296Glu) c.13100T>A (p.Val4367Glu) c.13169T>A (p.Val4390Glu) c.9869T>A (p.Val3290Glu) c.13580T>A (p.Val4527Glu) c.13103T>A (p.Val4368Glu) c.13127T>A (p.Val4376Glu) c.13181T>A (p.Val4394Glu) c.13073T>A (p.Val4358Glu) c.13250T>A (p.Val4417Glu) c.13238T>A (p.Val4413Glu) c.13595T>A (p.Val4532Glu) c.13196T>A (p.Val4399Glu) c.13184T>A (p.Val4395Glu) c.13142T>A (p.Val4381Glu) c.13118T>A (p.Val4373Glu) c.13088T>A (p.Val4363Glu) c.13265T>A (p.Val4422Glu) c.13115T>A (p.Val4372Glu) c.9815T>A (p.Val3272Glu) | |
| 8 | g.143916653C>A | CA372476208 | PLEC | c.13300G>T (p.Val4434Leu) c.13219G>T (p.Val4407Leu) c.12886G>T (p.Val4296Leu) c.13099G>T (p.Val4367Leu) c.13168G>T (p.Val4390Leu) c.9868G>T (p.Val3290Leu) c.13579G>T (p.Val4527Leu) c.13102G>T (p.Val4368Leu) c.13126G>T (p.Val4376Leu) c.13180G>T (p.Val4394Leu) c.13072G>T (p.Val4358Leu) c.13249G>T (p.Val4417Leu) c.13237G>T (p.Val4413Leu) c.13594G>T (p.Val4532Leu) c.13195G>T (p.Val4399Leu) c.13183G>T (p.Val4395Leu) c.13141G>T (p.Val4381Leu) c.13117G>T (p.Val4373Leu) c.13087G>T (p.Val4363Leu) c.13264G>T (p.Val4422Leu) c.13114G>T (p.Val4372Leu) c.9814G>T (p.Val3272Leu) | ClinVar dbSNP |
| 8 | g.143916653C= | CA1826037526 | PLEC | c.13300G= (p.Val4434=) c.13219G= (p.Val4407=) c.12886G= (p.Val4296=) c.13099G= (p.Val4367=) c.13168G= (p.Val4390=) c.9868G= (p.Val3290=) c.13579G= (p.Val4527=) c.13102G= (p.Val4368=) c.13126G= (p.Val4376=) c.13180G= (p.Val4394=) c.13072G= (p.Val4358=) c.13249G= (p.Val4417=) c.13237G= (p.Val4413=) c.13594G= (p.Val4532=) c.13195G= (p.Val4399=) c.13183G= (p.Val4395=) c.13141G= (p.Val4381=) c.13117G= (p.Val4373=) c.13087G= (p.Val4363=) c.13264G= (p.Val4422=) c.13114G= (p.Val4372=) c.9814G= (p.Val3272=) | |
| 8 | g.143916653C>G | CA372476203 | PLEC | c.13300G>C (p.Val4434Leu) c.13219G>C (p.Val4407Leu) c.12886G>C (p.Val4296Leu) c.13099G>C (p.Val4367Leu) c.13168G>C (p.Val4390Leu) c.9868G>C (p.Val3290Leu) c.13579G>C (p.Val4527Leu) c.13102G>C (p.Val4368Leu) c.13126G>C (p.Val4376Leu) c.13180G>C (p.Val4394Leu) c.13072G>C (p.Val4358Leu) c.13249G>C (p.Val4417Leu) c.13237G>C (p.Val4413Leu) c.13594G>C (p.Val4532Leu) c.13195G>C (p.Val4399Leu) c.13183G>C (p.Val4395Leu) c.13141G>C (p.Val4381Leu) c.13117G>C (p.Val4373Leu) c.13087G>C (p.Val4363Leu) c.13264G>C (p.Val4422Leu) c.13114G>C (p.Val4372Leu) c.9814G>C (p.Val3272Leu) | |
| 8 | g.143916653C>T | CA372476206 | PLEC | c.13300G>A (p.Val4434Met) c.13219G>A (p.Val4407Met) c.12886G>A (p.Val4296Met) c.13099G>A (p.Val4367Met) c.13168G>A (p.Val4390Met) c.9868G>A (p.Val3290Met) c.13579G>A (p.Val4527Met) c.13102G>A (p.Val4368Met) c.13126G>A (p.Val4376Met) c.13180G>A (p.Val4394Met) c.13072G>A (p.Val4358Met) c.13249G>A (p.Val4417Met) c.13237G>A (p.Val4413Met) c.13594G>A (p.Val4532Met) c.13195G>A (p.Val4399Met) c.13183G>A (p.Val4395Met) c.13141G>A (p.Val4381Met) c.13117G>A (p.Val4373Met) c.13087G>A (p.Val4363Met) c.13264G>A (p.Val4422Met) c.13114G>A (p.Val4372Met) c.9814G>A (p.Val3272Met) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143916654C>A | CA372476210 | PLEC | c.13299G>T (p.Glu4433Asp) c.13218G>T (p.Glu4406Asp) c.12885G>T (p.Glu4295Asp) c.13098G>T (p.Glu4366Asp) c.13167G>T (p.Glu4389Asp) c.9867G>T (p.Glu3289Asp) c.13578G>T (p.Glu4526Asp) c.13101G>T (p.Glu4367Asp) c.13125G>T (p.Glu4375Asp) c.13179G>T (p.Glu4393Asp) c.13071G>T (p.Glu4357Asp) c.13248G>T (p.Glu4416Asp) c.13236G>T (p.Glu4412Asp) c.13593G>T (p.Glu4531Asp) c.13194G>T (p.Glu4398Asp) c.13182G>T (p.Glu4394Asp) c.13140G>T (p.Glu4380Asp) c.13116G>T (p.Glu4372Asp) c.13086G>T (p.Glu4362Asp) c.13263G>T (p.Glu4421Asp) c.13113G>T (p.Glu4371Asp) c.9813G>T (p.Glu3271Asp) | |
| 8 | g.143916654C>G | CA372476211 | PLEC | c.13299G>C (p.Glu4433Asp) c.13218G>C (p.Glu4406Asp) c.12885G>C (p.Glu4295Asp) c.13098G>C (p.Glu4366Asp) c.13167G>C (p.Glu4389Asp) c.9867G>C (p.Glu3289Asp) c.13578G>C (p.Glu4526Asp) c.13101G>C (p.Glu4367Asp) c.13125G>C (p.Glu4375Asp) c.13179G>C (p.Glu4393Asp) c.13071G>C (p.Glu4357Asp) c.13248G>C (p.Glu4416Asp) c.13236G>C (p.Glu4412Asp) c.13593G>C (p.Glu4531Asp) c.13194G>C (p.Glu4398Asp) c.13182G>C (p.Glu4394Asp) c.13140G>C (p.Glu4380Asp) c.13116G>C (p.Glu4372Asp) c.13086G>C (p.Glu4362Asp) c.13263G>C (p.Glu4421Asp) c.13113G>C (p.Glu4371Asp) c.9813G>C (p.Glu3271Asp) | |
| 8 | g.143916654C>T | CA463525899 | PLEC | c.13299G>A (p.Glu4433=) c.13218G>A (p.Glu4406=) c.12885G>A (p.Glu4295=) c.13098G>A (p.Glu4366=) c.13167G>A (p.Glu4389=) c.9867G>A (p.Glu3289=) c.13578G>A (p.Glu4526=) c.13101G>A (p.Glu4367=) c.13125G>A (p.Glu4375=) c.13179G>A (p.Glu4393=) c.13071G>A (p.Glu4357=) c.13248G>A (p.Glu4416=) c.13236G>A (p.Glu4412=) c.13593G>A (p.Glu4531=) c.13194G>A (p.Glu4398=) c.13182G>A (p.Glu4394=) c.13140G>A (p.Glu4380=) c.13116G>A (p.Glu4372=) c.13086G>A (p.Glu4362=) c.13263G>A (p.Glu4421=) c.13113G>A (p.Glu4371=) c.9813G>A (p.Glu3271=) | gnomAD v4 |
| 8 | g.143916655T>A | CA372476212 | PLEC | c.13298A>T (p.Glu4433Val) c.13217A>T (p.Glu4406Val) c.12884A>T (p.Glu4295Val) c.13097A>T (p.Glu4366Val) c.13166A>T (p.Glu4389Val) c.9866A>T (p.Glu3289Val) c.13577A>T (p.Glu4526Val) c.13100A>T (p.Glu4367Val) c.13124A>T (p.Glu4375Val) c.13178A>T (p.Glu4393Val) c.13070A>T (p.Glu4357Val) c.13247A>T (p.Glu4416Val) c.13235A>T (p.Glu4412Val) c.13592A>T (p.Glu4531Val) c.13193A>T (p.Glu4398Val) c.13181A>T (p.Glu4394Val) c.13139A>T (p.Glu4380Val) c.13115A>T (p.Glu4372Val) c.13085A>T (p.Glu4362Val) c.13262A>T (p.Glu4421Val) c.13112A>T (p.Glu4371Val) c.9812A>T (p.Glu3271Val) | |
| 8 | g.143916655T>C | CA372476213 | PLEC | c.13298A>G (p.Glu4433Gly) c.13217A>G (p.Glu4406Gly) c.12884A>G (p.Glu4295Gly) c.13097A>G (p.Glu4366Gly) c.13166A>G (p.Glu4389Gly) c.9866A>G (p.Glu3289Gly) c.13577A>G (p.Glu4526Gly) c.13100A>G (p.Glu4367Gly) c.13124A>G (p.Glu4375Gly) c.13178A>G (p.Glu4393Gly) c.13070A>G (p.Glu4357Gly) c.13247A>G (p.Glu4416Gly) c.13235A>G (p.Glu4412Gly) c.13592A>G (p.Glu4531Gly) c.13193A>G (p.Glu4398Gly) c.13181A>G (p.Glu4394Gly) c.13139A>G (p.Glu4380Gly) c.13115A>G (p.Glu4372Gly) c.13085A>G (p.Glu4362Gly) c.13262A>G (p.Glu4421Gly) c.13112A>G (p.Glu4371Gly) c.9812A>G (p.Glu3271Gly) | |
| 8 | g.143916655T>G | CA372476214 | PLEC | c.13298A>C (p.Glu4433Ala) c.13217A>C (p.Glu4406Ala) c.12884A>C (p.Glu4295Ala) c.13097A>C (p.Glu4366Ala) c.13166A>C (p.Glu4389Ala) c.9866A>C (p.Glu3289Ala) c.13577A>C (p.Glu4526Ala) c.13100A>C (p.Glu4367Ala) c.13124A>C (p.Glu4375Ala) c.13178A>C (p.Glu4393Ala) c.13070A>C (p.Glu4357Ala) c.13247A>C (p.Glu4416Ala) c.13235A>C (p.Glu4412Ala) c.13592A>C (p.Glu4531Ala) c.13193A>C (p.Glu4398Ala) c.13181A>C (p.Glu4394Ala) c.13139A>C (p.Glu4380Ala) c.13115A>C (p.Glu4372Ala) c.13085A>C (p.Glu4362Ala) c.13262A>C (p.Glu4421Ala) c.13112A>C (p.Glu4371Ala) c.9812A>C (p.Glu3271Ala) | |
| 8 | g.143916656C>A | CA372476217 | PLEC | c.13297G>T (p.Glu4433Ter) c.13216G>T (p.Glu4406Ter) c.12883G>T (p.Glu4295Ter) c.13096G>T (p.Glu4366Ter) c.13165G>T (p.Glu4389Ter) c.9865G>T (p.Glu3289Ter) c.13576G>T (p.Glu4526Ter) c.13099G>T (p.Glu4367Ter) c.13123G>T (p.Glu4375Ter) c.13177G>T (p.Glu4393Ter) c.13069G>T (p.Glu4357Ter) c.13246G>T (p.Glu4416Ter) c.13234G>T (p.Glu4412Ter) c.13591G>T (p.Glu4531Ter) c.13192G>T (p.Glu4398Ter) c.13180G>T (p.Glu4394Ter) c.13138G>T (p.Glu4380Ter) c.13114G>T (p.Glu4372Ter) c.13084G>T (p.Glu4362Ter) c.13261G>T (p.Glu4421Ter) c.13111G>T (p.Glu4371Ter) c.9811G>T (p.Glu3271Ter) | |
| 8 | g.143916656C>G | CA372476222 | PLEC | c.13297G>C (p.Glu4433Gln) c.13216G>C (p.Glu4406Gln) c.12883G>C (p.Glu4295Gln) c.13096G>C (p.Glu4366Gln) c.13165G>C (p.Glu4389Gln) c.9865G>C (p.Glu3289Gln) c.13576G>C (p.Glu4526Gln) c.13099G>C (p.Glu4367Gln) c.13123G>C (p.Glu4375Gln) c.13177G>C (p.Glu4393Gln) c.13069G>C (p.Glu4357Gln) c.13246G>C (p.Glu4416Gln) c.13234G>C (p.Glu4412Gln) c.13591G>C (p.Glu4531Gln) c.13192G>C (p.Glu4398Gln) c.13180G>C (p.Glu4394Gln) c.13138G>C (p.Glu4380Gln) c.13114G>C (p.Glu4372Gln) c.13084G>C (p.Glu4362Gln) c.13261G>C (p.Glu4421Gln) c.13111G>C (p.Glu4371Gln) c.9811G>C (p.Glu3271Gln) | |
| 8 | g.143916656C>T | CA372476219 | PLEC | c.13297G>A (p.Glu4433Lys) c.13216G>A (p.Glu4406Lys) c.12883G>A (p.Glu4295Lys) c.13096G>A (p.Glu4366Lys) c.13165G>A (p.Glu4389Lys) c.9865G>A (p.Glu3289Lys) c.13576G>A (p.Glu4526Lys) c.13099G>A (p.Glu4367Lys) c.13123G>A (p.Glu4375Lys) c.13177G>A (p.Glu4393Lys) c.13069G>A (p.Glu4357Lys) c.13246G>A (p.Glu4416Lys) c.13234G>A (p.Glu4412Lys) c.13591G>A (p.Glu4531Lys) c.13192G>A (p.Glu4398Lys) c.13180G>A (p.Glu4394Lys) c.13138G>A (p.Glu4380Lys) c.13114G>A (p.Glu4372Lys) c.13084G>A (p.Glu4362Lys) c.13261G>A (p.Glu4421Lys) c.13111G>A (p.Glu4371Lys) c.9811G>A (p.Glu3271Lys) | |
| 8 | g.143916657C>A | CA463525901 | PLEC | c.13296G>T (p.Leu4432=) c.13215G>T (p.Leu4405=) c.12882G>T (p.Leu4294=) c.13095G>T (p.Leu4365=) c.13164G>T (p.Leu4388=) c.9864G>T (p.Leu3288=) c.13575G>T (p.Leu4525=) c.13098G>T (p.Leu4366=) c.13122G>T (p.Leu4374=) c.13176G>T (p.Leu4392=) c.13068G>T (p.Leu4356=) c.13245G>T (p.Leu4415=) c.13233G>T (p.Leu4411=) c.13590G>T (p.Leu4530=) c.13191G>T (p.Leu4397=) c.13179G>T (p.Leu4393=) c.13137G>T (p.Leu4379=) c.13113G>T (p.Leu4371=) c.13083G>T (p.Leu4361=) c.13260G>T (p.Leu4420=) c.13110G>T (p.Leu4370=) c.9810G>T (p.Leu3270=) | |
| 8 | g.143916657C= | CA1826037528 | PLEC | c.13296G= (p.Leu4432=) c.13215G= (p.Leu4405=) c.12882G= (p.Leu4294=) c.13095G= (p.Leu4365=) c.13164G= (p.Leu4388=) c.9864G= (p.Leu3288=) c.13575G= (p.Leu4525=) c.13098G= (p.Leu4366=) c.13122G= (p.Leu4374=) c.13176G= (p.Leu4392=) c.13068G= (p.Leu4356=) c.13245G= (p.Leu4415=) c.13233G= (p.Leu4411=) c.13590G= (p.Leu4530=) c.13191G= (p.Leu4397=) c.13179G= (p.Leu4393=) c.13137G= (p.Leu4379=) c.13113G= (p.Leu4371=) c.13083G= (p.Leu4361=) c.13260G= (p.Leu4420=) c.13110G= (p.Leu4370=) c.9810G= (p.Leu3270=) | |
| 8 | g.143916657C>G | CA4923895 | PLEC | c.13296G>C (p.Leu4432=) c.13215G>C (p.Leu4405=) c.12882G>C (p.Leu4294=) c.13095G>C (p.Leu4365=) c.13164G>C (p.Leu4388=) c.9864G>C (p.Leu3288=) c.13575G>C (p.Leu4525=) c.13098G>C (p.Leu4366=) c.13122G>C (p.Leu4374=) c.13176G>C (p.Leu4392=) c.13068G>C (p.Leu4356=) c.13245G>C (p.Leu4415=) c.13233G>C (p.Leu4411=) c.13590G>C (p.Leu4530=) c.13191G>C (p.Leu4397=) c.13179G>C (p.Leu4393=) c.13137G>C (p.Leu4379=) c.13113G>C (p.Leu4371=) c.13083G>C (p.Leu4361=) c.13260G>C (p.Leu4420=) c.13110G>C (p.Leu4370=) c.9810G>C (p.Leu3270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916657C>T | CA4923894 | PLEC | c.13296G>A (p.Leu4432=) c.13215G>A (p.Leu4405=) c.12882G>A (p.Leu4294=) c.13095G>A (p.Leu4365=) c.13164G>A (p.Leu4388=) c.9864G>A (p.Leu3288=) c.13575G>A (p.Leu4525=) c.13098G>A (p.Leu4366=) c.13122G>A (p.Leu4374=) c.13176G>A (p.Leu4392=) c.13068G>A (p.Leu4356=) c.13245G>A (p.Leu4415=) c.13233G>A (p.Leu4411=) c.13590G>A (p.Leu4530=) c.13191G>A (p.Leu4397=) c.13179G>A (p.Leu4393=) c.13137G>A (p.Leu4379=) c.13113G>A (p.Leu4371=) c.13083G>A (p.Leu4361=) c.13260G>A (p.Leu4420=) c.13110G>A (p.Leu4370=) c.9810G>A (p.Leu3270=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143916658A>C | CA372476224 | PLEC | c.13295T>G (p.Leu4432Arg) c.13214T>G (p.Leu4405Arg) c.12881T>G (p.Leu4294Arg) c.13094T>G (p.Leu4365Arg) c.13163T>G (p.Leu4388Arg) c.9863T>G (p.Leu3288Arg) c.13574T>G (p.Leu4525Arg) c.13097T>G (p.Leu4366Arg) c.13121T>G (p.Leu4374Arg) c.13175T>G (p.Leu4392Arg) c.13067T>G (p.Leu4356Arg) c.13244T>G (p.Leu4415Arg) c.13232T>G (p.Leu4411Arg) c.13589T>G (p.Leu4530Arg) c.13190T>G (p.Leu4397Arg) c.13178T>G (p.Leu4393Arg) c.13136T>G (p.Leu4379Arg) c.13112T>G (p.Leu4371Arg) c.13082T>G (p.Leu4361Arg) c.13259T>G (p.Leu4420Arg) c.13109T>G (p.Leu4370Arg) c.9809T>G (p.Leu3270Arg) | |
| 8 | g.143916658A>G | CA372476225 | PLEC | c.13295T>C (p.Leu4432Pro) c.13214T>C (p.Leu4405Pro) c.12881T>C (p.Leu4294Pro) c.13094T>C (p.Leu4365Pro) c.13163T>C (p.Leu4388Pro) c.9863T>C (p.Leu3288Pro) c.13574T>C (p.Leu4525Pro) c.13097T>C (p.Leu4366Pro) c.13121T>C (p.Leu4374Pro) c.13175T>C (p.Leu4392Pro) c.13067T>C (p.Leu4356Pro) c.13244T>C (p.Leu4415Pro) c.13232T>C (p.Leu4411Pro) c.13589T>C (p.Leu4530Pro) c.13190T>C (p.Leu4397Pro) c.13178T>C (p.Leu4393Pro) c.13136T>C (p.Leu4379Pro) c.13112T>C (p.Leu4371Pro) c.13082T>C (p.Leu4361Pro) c.13259T>C (p.Leu4420Pro) c.13109T>C (p.Leu4370Pro) c.9809T>C (p.Leu3270Pro) | |
| 8 | g.143916658A>T | CA372476228 | PLEC | c.13295T>A (p.Leu4432Gln) c.13214T>A (p.Leu4405Gln) c.12881T>A (p.Leu4294Gln) c.13094T>A (p.Leu4365Gln) c.13163T>A (p.Leu4388Gln) c.9863T>A (p.Leu3288Gln) c.13574T>A (p.Leu4525Gln) c.13097T>A (p.Leu4366Gln) c.13121T>A (p.Leu4374Gln) c.13175T>A (p.Leu4392Gln) c.13067T>A (p.Leu4356Gln) c.13244T>A (p.Leu4415Gln) c.13232T>A (p.Leu4411Gln) c.13589T>A (p.Leu4530Gln) c.13190T>A (p.Leu4397Gln) c.13178T>A (p.Leu4393Gln) c.13136T>A (p.Leu4379Gln) c.13112T>A (p.Leu4371Gln) c.13082T>A (p.Leu4361Gln) c.13259T>A (p.Leu4420Gln) c.13109T>A (p.Leu4370Gln) c.9809T>A (p.Leu3270Gln) |