| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152330577_152330578delinsAA | CA2580075295 | SYNE1 | c.14107_14108delinsTT (p.Asp4703Phe) c.13894_13895delinsTT (p.Asp4632Phe) c.13297_13298delinsTT (p.Asp4433Phe) c.-1812_-1811delinsTT (n.-1812_-1811delinsTT) n.1453_1454delinsTT c.14128_14129delinsTT (p.Asp4710Phe) c.14077_14078delinsTT (p.Asp4693Phe) c.14056_14057delinsTT (p.Asp4686Phe) c.13972_13973delinsTT (p.Asp4658Phe) c.13969_13970delinsTT (p.Asp4657Phe) c.13963_13964delinsTT (p.Asp4655Phe) c.12403_12404delinsTT (p.Asp4135Phe) c.11896_11897delinsTT (p.Asp3966Phe) c.7363_7364delinsTT (p.Asp2455Phe) c.14101_14102delinsTT (p.Asp4701Phe) c.14050_14051delinsTT (p.Asp4684Phe) n.14611_14612delinsTT | ClinVar |
| 6 | g.152330578C>A | CA4056070 | SYNE1 | c.14107G>T (p.Asp4703Tyr) c.13894G>T (p.Asp4632Tyr) c.13297G>T (p.Asp4433Tyr) c.-1812G>T (n.-1812G>T) n.1453G>T c.14128G>T (p.Asp4710Tyr) c.14077G>T (p.Asp4693Tyr) c.14056G>T (p.Asp4686Tyr) c.13972G>T (p.Asp4658Tyr) c.13969G>T (p.Asp4657Tyr) c.13963G>T (p.Asp4655Tyr) c.12403G>T (p.Asp4135Tyr) c.11896G>T (p.Asp3966Tyr) c.7363G>T (p.Asp2455Tyr) c.14101G>T (p.Asp4701Tyr) c.14050G>T (p.Asp4684Tyr) n.14611G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152330578C= | CA1673274084 | SYNE1 | c.14107G= (p.Asp4703=) c.13894G= (p.Asp4632=) c.13297G= (p.Asp4433=) c.-1812G= (n.-1812G=) n.1453G= c.14128G= (p.Asp4710=) c.14077G= (p.Asp4693=) c.14056G= (p.Asp4686=) c.13972G= (p.Asp4658=) c.13969G= (p.Asp4657=) c.13963G= (p.Asp4655=) c.12403G= (p.Asp4135=) c.11896G= (p.Asp3966=) c.7363G= (p.Asp2455=) c.14101G= (p.Asp4701=) c.14050G= (p.Asp4684=) n.14611G= | |
| 6 | g.152330578C>G | CA366098714 | SYNE1 | c.14107G>C (p.Asp4703His) c.13894G>C (p.Asp4632His) c.13297G>C (p.Asp4433His) c.-1812G>C (n.-1812G>C) n.1453G>C c.14128G>C (p.Asp4710His) c.14077G>C (p.Asp4693His) c.14056G>C (p.Asp4686His) c.13972G>C (p.Asp4658His) c.13969G>C (p.Asp4657His) c.13963G>C (p.Asp4655His) c.12403G>C (p.Asp4135His) c.11896G>C (p.Asp3966His) c.7363G>C (p.Asp2455His) c.14101G>C (p.Asp4701His) c.14050G>C (p.Asp4684His) n.14611G>C | dbSNP |
| 6 | g.152330578C>T | CA155367 | SYNE1 | c.14107G>A (p.Asp4703Asn) c.13894G>A (p.Asp4632Asn) c.13297G>A (p.Asp4433Asn) c.-1812G>A (n.-1812G>A) n.1453G>A c.14128G>A (p.Asp4710Asn) c.14077G>A (p.Asp4693Asn) c.14056G>A (p.Asp4686Asn) c.13972G>A (p.Asp4658Asn) c.13969G>A (p.Asp4657Asn) c.13963G>A (p.Asp4655Asn) c.12403G>A (p.Asp4135Asn) c.11896G>A (p.Asp3966Asn) c.7363G>A (p.Asp2455Asn) c.14101G>A (p.Asp4701Asn) c.14050G>A (p.Asp4684Asn) n.14611G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152330579G>A | CA4056071 | SYNE1 | c.14106C>T (p.Thr4702=) c.13893C>T (p.Thr4631=) c.13296C>T (p.Thr4432=) c.-1813C>T (n.-1813C>T) n.1452C>T c.14127C>T (p.Thr4709=) c.14076C>T (p.Thr4692=) c.14055C>T (p.Thr4685=) c.13971C>T (p.Thr4657=) c.13968C>T (p.Thr4656=) c.13962C>T (p.Thr4654=) c.12402C>T (p.Thr4134=) c.11895C>T (p.Thr3965=) c.7362C>T (p.Thr2454=) c.14100C>T (p.Thr4700=) c.14049C>T (p.Thr4683=) n.14610C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152330579G>C | CA452970905 | SYNE1 | c.14106C>G (p.Thr4702=) c.13893C>G (p.Thr4631=) c.13296C>G (p.Thr4432=) c.-1813C>G (n.-1813C>G) n.1452C>G c.14127C>G (p.Thr4709=) c.14076C>G (p.Thr4692=) c.14055C>G (p.Thr4685=) c.13971C>G (p.Thr4657=) c.13968C>G (p.Thr4656=) c.13962C>G (p.Thr4654=) c.12402C>G (p.Thr4134=) c.11895C>G (p.Thr3965=) c.7362C>G (p.Thr2454=) c.14100C>G (p.Thr4700=) c.14049C>G (p.Thr4683=) n.14610C>G | |
| 6 | g.152330579G= | CA1673274097 | SYNE1 | c.14106C= (p.Thr4702=) c.13893C= (p.Thr4631=) c.13296C= (p.Thr4432=) c.-1813C= (n.-1813C=) n.1452C= c.14127C= (p.Thr4709=) c.14076C= (p.Thr4692=) c.14055C= (p.Thr4685=) c.13971C= (p.Thr4657=) c.13968C= (p.Thr4656=) c.13962C= (p.Thr4654=) c.12402C= (p.Thr4134=) c.11895C= (p.Thr3965=) c.7362C= (p.Thr2454=) c.14100C= (p.Thr4700=) c.14049C= (p.Thr4683=) n.14610C= | |
| 6 | g.152330579G>T | CA4056072 | SYNE1 | c.14106C>A (p.Thr4702=) c.13893C>A (p.Thr4631=) c.13296C>A (p.Thr4432=) c.-1813C>A (n.-1813C>A) n.1452C>A c.14127C>A (p.Thr4709=) c.14076C>A (p.Thr4692=) c.14055C>A (p.Thr4685=) c.13971C>A (p.Thr4657=) c.13968C>A (p.Thr4656=) c.13962C>A (p.Thr4654=) c.12402C>A (p.Thr4134=) c.11895C>A (p.Thr3965=) c.7362C>A (p.Thr2454=) c.14100C>A (p.Thr4700=) c.14049C>A (p.Thr4683=) n.14610C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152330580G>A | CA150176755 | SYNE1 | c.14105C>T (p.Thr4702Ile) c.13892C>T (p.Thr4631Ile) c.13295C>T (p.Thr4432Ile) c.-1814C>T (n.-1814C>T) n.1451C>T c.14126C>T (p.Thr4709Ile) c.14075C>T (p.Thr4692Ile) c.14054C>T (p.Thr4685Ile) c.13970C>T (p.Thr4657Ile) c.13967C>T (p.Thr4656Ile) c.13961C>T (p.Thr4654Ile) c.12401C>T (p.Thr4134Ile) c.11894C>T (p.Thr3965Ile) c.7361C>T (p.Thr2454Ile) c.14099C>T (p.Thr4700Ile) c.14048C>T (p.Thr4683Ile) n.14609C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.152330580G>C | CA366098716 | SYNE1 | c.14105C>G (p.Thr4702Ser) c.13892C>G (p.Thr4631Ser) c.13295C>G (p.Thr4432Ser) c.-1814C>G (n.-1814C>G) n.1451C>G c.14126C>G (p.Thr4709Ser) c.14075C>G (p.Thr4692Ser) c.14054C>G (p.Thr4685Ser) c.13970C>G (p.Thr4657Ser) c.13967C>G (p.Thr4656Ser) c.13961C>G (p.Thr4654Ser) c.12401C>G (p.Thr4134Ser) c.11894C>G (p.Thr3965Ser) c.7361C>G (p.Thr2454Ser) c.14099C>G (p.Thr4700Ser) c.14048C>G (p.Thr4683Ser) n.14609C>G | |
| 6 | g.152330580G= | CA1673274103 | SYNE1 | c.14105C= (p.Thr4702=) c.13892C= (p.Thr4631=) c.13295C= (p.Thr4432=) c.-1814C= (n.-1814C=) n.1451C= c.14126C= (p.Thr4709=) c.14075C= (p.Thr4692=) c.14054C= (p.Thr4685=) c.13970C= (p.Thr4657=) c.13967C= (p.Thr4656=) c.13961C= (p.Thr4654=) c.12401C= (p.Thr4134=) c.11894C= (p.Thr3965=) c.7361C= (p.Thr2454=) c.14099C= (p.Thr4700=) c.14048C= (p.Thr4683=) n.14609C= | |
| 6 | g.152330580G>T | CA366098715 | SYNE1 | c.14105C>A (p.Thr4702Asn) c.13892C>A (p.Thr4631Asn) c.13295C>A (p.Thr4432Asn) c.-1814C>A (n.-1814C>A) n.1451C>A c.14126C>A (p.Thr4709Asn) c.14075C>A (p.Thr4692Asn) c.14054C>A (p.Thr4685Asn) c.13970C>A (p.Thr4657Asn) c.13967C>A (p.Thr4656Asn) c.13961C>A (p.Thr4654Asn) c.12401C>A (p.Thr4134Asn) c.11894C>A (p.Thr3965Asn) c.7361C>A (p.Thr2454Asn) c.14099C>A (p.Thr4700Asn) c.14048C>A (p.Thr4683Asn) n.14609C>A | |
| 6 | g.152330581T>A | CA366098717 | SYNE1 | c.14104A>T (p.Thr4702Ser) c.13891A>T (p.Thr4631Ser) c.13294A>T (p.Thr4432Ser) c.-1815A>T (n.-1815A>T) n.1450A>T c.14125A>T (p.Thr4709Ser) c.14074A>T (p.Thr4692Ser) c.14053A>T (p.Thr4685Ser) c.13969A>T (p.Thr4657Ser) c.13966A>T (p.Thr4656Ser) c.13960A>T (p.Thr4654Ser) c.12400A>T (p.Thr4134Ser) c.11893A>T (p.Thr3965Ser) c.7360A>T (p.Thr2454Ser) c.14098A>T (p.Thr4700Ser) c.14047A>T (p.Thr4683Ser) n.14608A>T | |
| 6 | g.152330581T>C | CA366098718 | SYNE1 | c.14104A>G (p.Thr4702Ala) c.13891A>G (p.Thr4631Ala) c.13294A>G (p.Thr4432Ala) c.-1815A>G (n.-1815A>G) n.1450A>G c.14125A>G (p.Thr4709Ala) c.14074A>G (p.Thr4692Ala) c.14053A>G (p.Thr4685Ala) c.13969A>G (p.Thr4657Ala) c.13966A>G (p.Thr4656Ala) c.13960A>G (p.Thr4654Ala) c.12400A>G (p.Thr4134Ala) c.11893A>G (p.Thr3965Ala) c.7360A>G (p.Thr2454Ala) c.14098A>G (p.Thr4700Ala) c.14047A>G (p.Thr4683Ala) n.14608A>G | |
| 6 | g.152330581T>G | CA366098719 | SYNE1 | c.14104A>C (p.Thr4702Pro) c.13891A>C (p.Thr4631Pro) c.13294A>C (p.Thr4432Pro) c.-1815A>C (n.-1815A>C) n.1450A>C c.14125A>C (p.Thr4709Pro) c.14074A>C (p.Thr4692Pro) c.14053A>C (p.Thr4685Pro) c.13969A>C (p.Thr4657Pro) c.13966A>C (p.Thr4656Pro) c.13960A>C (p.Thr4654Pro) c.12400A>C (p.Thr4134Pro) c.11893A>C (p.Thr3965Pro) c.7360A>C (p.Thr2454Pro) c.14098A>C (p.Thr4700Pro) c.14047A>C (p.Thr4683Pro) n.14608A>C | |
| 6 | g.152330582G>A | CA4056073 | SYNE1 | c.14103C>T (p.Pro4701=) c.13890C>T (p.Pro4630=) c.13293C>T (p.Pro4431=) c.-1816C>T (n.-1816C>T) n.1449C>T c.14124C>T (p.Pro4708=) c.14073C>T (p.Pro4691=) c.14052C>T (p.Pro4684=) c.13968C>T (p.Pro4656=) c.13965C>T (p.Pro4655=) c.13959C>T (p.Pro4653=) c.12399C>T (p.Pro4133=) c.11892C>T (p.Pro3964=) c.7359C>T (p.Pro2453=) c.14097C>T (p.Pro4699=) c.14046C>T (p.Pro4682=) n.14607C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152330582G>C | CA452970908 | SYNE1 | c.14103C>G (p.Pro4701=) c.13890C>G (p.Pro4630=) c.13293C>G (p.Pro4431=) c.-1816C>G (n.-1816C>G) n.1449C>G c.14124C>G (p.Pro4708=) c.14073C>G (p.Pro4691=) c.14052C>G (p.Pro4684=) c.13968C>G (p.Pro4656=) c.13965C>G (p.Pro4655=) c.13959C>G (p.Pro4653=) c.12399C>G (p.Pro4133=) c.11892C>G (p.Pro3964=) c.7359C>G (p.Pro2453=) c.14097C>G (p.Pro4699=) c.14046C>G (p.Pro4682=) n.14607C>G | |
| 6 | g.152330582G= | CA1673274107 | SYNE1 | c.14103C= (p.Pro4701=) c.13890C= (p.Pro4630=) c.13293C= (p.Pro4431=) c.-1816C= (n.-1816C=) n.1449C= c.14124C= (p.Pro4708=) c.14073C= (p.Pro4691=) c.14052C= (p.Pro4684=) c.13968C= (p.Pro4656=) c.13965C= (p.Pro4655=) c.13959C= (p.Pro4653=) c.12399C= (p.Pro4133=) c.11892C= (p.Pro3964=) c.7359C= (p.Pro2453=) c.14097C= (p.Pro4699=) c.14046C= (p.Pro4682=) n.14607C= | |
| 6 | g.152330582G>T | CA452970907 | SYNE1 | c.14103C>A (p.Pro4701=) c.13890C>A (p.Pro4630=) c.13293C>A (p.Pro4431=) c.-1816C>A (n.-1816C>A) n.1449C>A c.14124C>A (p.Pro4708=) c.14073C>A (p.Pro4691=) c.14052C>A (p.Pro4684=) c.13968C>A (p.Pro4656=) c.13965C>A (p.Pro4655=) c.13959C>A (p.Pro4653=) c.12399C>A (p.Pro4133=) c.11892C>A (p.Pro3964=) c.7359C>A (p.Pro2453=) c.14097C>A (p.Pro4699=) c.14046C>A (p.Pro4682=) n.14607C>A | |
| 6 | g.152330583G>A | CA366098720 | SYNE1 | c.14102C>T (p.Pro4701Leu) c.13889C>T (p.Pro4630Leu) c.13292C>T (p.Pro4431Leu) c.-1817C>T (n.-1817C>T) n.1448C>T c.14123C>T (p.Pro4708Leu) c.14072C>T (p.Pro4691Leu) c.14051C>T (p.Pro4684Leu) c.13967C>T (p.Pro4656Leu) c.13964C>T (p.Pro4655Leu) c.13958C>T (p.Pro4653Leu) c.12398C>T (p.Pro4133Leu) c.11891C>T (p.Pro3964Leu) c.7358C>T (p.Pro2453Leu) c.14096C>T (p.Pro4699Leu) c.14045C>T (p.Pro4682Leu) n.14606C>T | gnomAD v4 |
| 6 | g.152330583G>C | CA366098721 | SYNE1 | c.14102C>G (p.Pro4701Arg) c.13889C>G (p.Pro4630Arg) c.13292C>G (p.Pro4431Arg) c.-1817C>G (n.-1817C>G) n.1448C>G c.14123C>G (p.Pro4708Arg) c.14072C>G (p.Pro4691Arg) c.14051C>G (p.Pro4684Arg) c.13967C>G (p.Pro4656Arg) c.13964C>G (p.Pro4655Arg) c.13958C>G (p.Pro4653Arg) c.12398C>G (p.Pro4133Arg) c.11891C>G (p.Pro3964Arg) c.7358C>G (p.Pro2453Arg) c.14096C>G (p.Pro4699Arg) c.14045C>G (p.Pro4682Arg) n.14606C>G | |
| 6 | g.152330583G>T | CA366098722 | SYNE1 | c.14102C>A (p.Pro4701His) c.13889C>A (p.Pro4630His) c.13292C>A (p.Pro4431His) c.-1817C>A (n.-1817C>A) n.1448C>A c.14123C>A (p.Pro4708His) c.14072C>A (p.Pro4691His) c.14051C>A (p.Pro4684His) c.13967C>A (p.Pro4656His) c.13964C>A (p.Pro4655His) c.13958C>A (p.Pro4653His) c.12398C>A (p.Pro4133His) c.11891C>A (p.Pro3964His) c.7358C>A (p.Pro2453His) c.14096C>A (p.Pro4699His) c.14045C>A (p.Pro4682His) n.14606C>A | |
| 6 | g.152330584G>A | CA366098723 | SYNE1 | c.14101C>T (p.Pro4701Ser) c.13888C>T (p.Pro4630Ser) c.13291C>T (p.Pro4431Ser) c.-1818C>T (n.-1818C>T) n.1447C>T c.14122C>T (p.Pro4708Ser) c.14071C>T (p.Pro4691Ser) c.14050C>T (p.Pro4684Ser) c.13966C>T (p.Pro4656Ser) c.13963C>T (p.Pro4655Ser) c.13957C>T (p.Pro4653Ser) c.12397C>T (p.Pro4133Ser) c.11890C>T (p.Pro3964Ser) c.7357C>T (p.Pro2453Ser) c.14095C>T (p.Pro4699Ser) c.14044C>T (p.Pro4682Ser) n.14605C>T | |
| 6 | g.152330584G>C | CA366098724 | SYNE1 | c.14101C>G (p.Pro4701Ala) c.13888C>G (p.Pro4630Ala) c.13291C>G (p.Pro4431Ala) c.-1818C>G (n.-1818C>G) n.1447C>G c.14122C>G (p.Pro4708Ala) c.14071C>G (p.Pro4691Ala) c.14050C>G (p.Pro4684Ala) c.13966C>G (p.Pro4656Ala) c.13963C>G (p.Pro4655Ala) c.13957C>G (p.Pro4653Ala) c.12397C>G (p.Pro4133Ala) c.11890C>G (p.Pro3964Ala) c.7357C>G (p.Pro2453Ala) c.14095C>G (p.Pro4699Ala) c.14044C>G (p.Pro4682Ala) n.14605C>G | |
| 6 | g.152330584G>T | CA366098725 | SYNE1 | c.14101C>A (p.Pro4701Thr) c.13888C>A (p.Pro4630Thr) c.13291C>A (p.Pro4431Thr) c.-1818C>A (n.-1818C>A) n.1447C>A c.14122C>A (p.Pro4708Thr) c.14071C>A (p.Pro4691Thr) c.14050C>A (p.Pro4684Thr) c.13966C>A (p.Pro4656Thr) c.13963C>A (p.Pro4655Thr) c.13957C>A (p.Pro4653Thr) c.12397C>A (p.Pro4133Thr) c.11890C>A (p.Pro3964Thr) c.7357C>A (p.Pro2453Thr) c.14095C>A (p.Pro4699Thr) c.14044C>A (p.Pro4682Thr) n.14605C>A | |
| 6 | g.152330585A>C | CA452970913 | SYNE1 | c.14100T>G (p.Val4700=) c.13887T>G (p.Val4629=) c.13290T>G (p.Val4430=) c.-1819T>G (n.-1819T>G) n.1446T>G c.14121T>G (p.Val4707=) c.14070T>G (p.Val4690=) c.14049T>G (p.Val4683=) c.13965T>G (p.Val4655=) c.13962T>G (p.Val4654=) c.13956T>G (p.Val4652=) c.12396T>G (p.Val4132=) c.11889T>G (p.Val3963=) c.7356T>G (p.Val2452=) c.14094T>G (p.Val4698=) c.14043T>G (p.Val4681=) n.14604T>G | |
| 6 | g.152330585A>G | CA452970911 | SYNE1 | c.14100T>C (p.Val4700=) c.13887T>C (p.Val4629=) c.13290T>C (p.Val4430=) c.-1819T>C (n.-1819T>C) n.1446T>C c.14121T>C (p.Val4707=) c.14070T>C (p.Val4690=) c.14049T>C (p.Val4683=) c.13965T>C (p.Val4655=) c.13962T>C (p.Val4654=) c.13956T>C (p.Val4652=) c.12396T>C (p.Val4132=) c.11889T>C (p.Val3963=) c.7356T>C (p.Val2452=) c.14094T>C (p.Val4698=) c.14043T>C (p.Val4681=) n.14604T>C | |
| 6 | g.152330585A>T | CA452970912 | SYNE1 | c.14100T>A (p.Val4700=) c.13887T>A (p.Val4629=) c.13290T>A (p.Val4430=) c.-1819T>A (n.-1819T>A) n.1446T>A c.14121T>A (p.Val4707=) c.14070T>A (p.Val4690=) c.14049T>A (p.Val4683=) c.13965T>A (p.Val4655=) c.13962T>A (p.Val4654=) c.13956T>A (p.Val4652=) c.12396T>A (p.Val4132=) c.11889T>A (p.Val3963=) c.7356T>A (p.Val2452=) c.14094T>A (p.Val4698=) c.14043T>A (p.Val4681=) n.14604T>A | |
| 6 | g.152330586A>C | CA366098726 | SYNE1 | c.14099T>G (p.Val4700Gly) c.13886T>G (p.Val4629Gly) c.13289T>G (p.Val4430Gly) c.-1820T>G (n.-1820T>G) n.1445T>G c.14120T>G (p.Val4707Gly) c.14069T>G (p.Val4690Gly) c.14048T>G (p.Val4683Gly) c.13964T>G (p.Val4655Gly) c.13961T>G (p.Val4654Gly) c.13955T>G (p.Val4652Gly) c.12395T>G (p.Val4132Gly) c.11888T>G (p.Val3963Gly) c.7355T>G (p.Val2452Gly) c.14093T>G (p.Val4698Gly) c.14042T>G (p.Val4681Gly) n.14603T>G | |
| 6 | g.152330586A>G | CA366098727 | SYNE1 | c.14099T>C (p.Val4700Ala) c.13886T>C (p.Val4629Ala) c.13289T>C (p.Val4430Ala) c.-1820T>C (n.-1820T>C) n.1445T>C c.14120T>C (p.Val4707Ala) c.14069T>C (p.Val4690Ala) c.14048T>C (p.Val4683Ala) c.13964T>C (p.Val4655Ala) c.13961T>C (p.Val4654Ala) c.13955T>C (p.Val4652Ala) c.12395T>C (p.Val4132Ala) c.11888T>C (p.Val3963Ala) c.7355T>C (p.Val2452Ala) c.14093T>C (p.Val4698Ala) c.14042T>C (p.Val4681Ala) n.14603T>C | |
| 6 | g.152330586A>T | CA366098728 | SYNE1 | c.14099T>A (p.Val4700Asp) c.13886T>A (p.Val4629Asp) c.13289T>A (p.Val4430Asp) c.-1820T>A (n.-1820T>A) n.1445T>A c.14120T>A (p.Val4707Asp) c.14069T>A (p.Val4690Asp) c.14048T>A (p.Val4683Asp) c.13964T>A (p.Val4655Asp) c.13961T>A (p.Val4654Asp) c.13955T>A (p.Val4652Asp) c.12395T>A (p.Val4132Asp) c.11888T>A (p.Val3963Asp) c.7355T>A (p.Val2452Asp) c.14093T>A (p.Val4698Asp) c.14042T>A (p.Val4681Asp) n.14603T>A | |
| 6 | g.152330587C>A | CA366098730 | SYNE1 | c.14098G>T (p.Val4700Phe) c.13885G>T (p.Val4629Phe) c.13288G>T (p.Val4430Phe) c.-1821G>T (n.-1821G>T) n.1444G>T c.14119G>T (p.Val4707Phe) c.14068G>T (p.Val4690Phe) c.14047G>T (p.Val4683Phe) c.13963G>T (p.Val4655Phe) c.13960G>T (p.Val4654Phe) c.13954G>T (p.Val4652Phe) c.12394G>T (p.Val4132Phe) c.11887G>T (p.Val3963Phe) c.7354G>T (p.Val2452Phe) c.14092G>T (p.Val4698Phe) c.14041G>T (p.Val4681Phe) n.14602G>T | gnomAD v4 |
| 6 | g.152330587C>G | CA366098731 | SYNE1 | c.14098G>C (p.Val4700Leu) c.13885G>C (p.Val4629Leu) c.13288G>C (p.Val4430Leu) c.-1821G>C (n.-1821G>C) n.1444G>C c.14119G>C (p.Val4707Leu) c.14068G>C (p.Val4690Leu) c.14047G>C (p.Val4683Leu) c.13963G>C (p.Val4655Leu) c.13960G>C (p.Val4654Leu) c.13954G>C (p.Val4652Leu) c.12394G>C (p.Val4132Leu) c.11887G>C (p.Val3963Leu) c.7354G>C (p.Val2452Leu) c.14092G>C (p.Val4698Leu) c.14041G>C (p.Val4681Leu) n.14602G>C | |
| 6 | g.152330587C>T | CA366098729 | SYNE1 | c.14098G>A (p.Val4700Ile) c.13885G>A (p.Val4629Ile) c.13288G>A (p.Val4430Ile) c.-1821G>A (n.-1821G>A) n.1444G>A c.14119G>A (p.Val4707Ile) c.14068G>A (p.Val4690Ile) c.14047G>A (p.Val4683Ile) c.13963G>A (p.Val4655Ile) c.13960G>A (p.Val4654Ile) c.13954G>A (p.Val4652Ile) c.12394G>A (p.Val4132Ile) c.11887G>A (p.Val3963Ile) c.7354G>A (p.Val2452Ile) c.14092G>A (p.Val4698Ile) c.14041G>A (p.Val4681Ile) n.14602G>A | gnomAD v4 |
| 6 | g.152330588T>A | CA366098732 | SYNE1 | c.14097A>T (p.Lys4699Asn) c.13884A>T (p.Lys4628Asn) c.13287A>T (p.Lys4429Asn) c.-1822A>T (n.-1822A>T) n.1443A>T c.14118A>T (p.Lys4706Asn) c.14067A>T (p.Lys4689Asn) c.14046A>T (p.Lys4682Asn) c.13962A>T (p.Lys4654Asn) c.13959A>T (p.Lys4653Asn) c.13953A>T (p.Lys4651Asn) c.12393A>T (p.Lys4131Asn) c.11886A>T (p.Lys3962Asn) c.7353A>T (p.Lys2451Asn) c.14091A>T (p.Lys4697Asn) c.14040A>T (p.Lys4680Asn) n.14601A>T | |
| 6 | g.152330588T>C | CA452970918 | SYNE1 | c.14097A>G (p.Lys4699=) c.13884A>G (p.Lys4628=) c.13287A>G (p.Lys4429=) c.-1822A>G (n.-1822A>G) n.1443A>G c.14118A>G (p.Lys4706=) c.14067A>G (p.Lys4689=) c.14046A>G (p.Lys4682=) c.13962A>G (p.Lys4654=) c.13959A>G (p.Lys4653=) c.13953A>G (p.Lys4651=) c.12393A>G (p.Lys4131=) c.11886A>G (p.Lys3962=) c.7353A>G (p.Lys2451=) c.14091A>G (p.Lys4697=) c.14040A>G (p.Lys4680=) n.14601A>G | |
| 6 | g.152330588T>G | CA366098733 | SYNE1 | c.14097A>C (p.Lys4699Asn) c.13884A>C (p.Lys4628Asn) c.13287A>C (p.Lys4429Asn) c.-1822A>C (n.-1822A>C) n.1443A>C c.14118A>C (p.Lys4706Asn) c.14067A>C (p.Lys4689Asn) c.14046A>C (p.Lys4682Asn) c.13962A>C (p.Lys4654Asn) c.13959A>C (p.Lys4653Asn) c.13953A>C (p.Lys4651Asn) c.12393A>C (p.Lys4131Asn) c.11886A>C (p.Lys3962Asn) c.7353A>C (p.Lys2451Asn) c.14091A>C (p.Lys4697Asn) c.14040A>C (p.Lys4680Asn) n.14601A>C | |
| 6 | g.152330589T>A | CA366098734 | SYNE1 | c.14096A>T (p.Lys4699Ile) c.13883A>T (p.Lys4628Ile) c.13286A>T (p.Lys4429Ile) c.-1823A>T (n.-1823A>T) n.1442A>T c.14117A>T (p.Lys4706Ile) c.14066A>T (p.Lys4689Ile) c.14045A>T (p.Lys4682Ile) c.13961A>T (p.Lys4654Ile) c.13958A>T (p.Lys4653Ile) c.13952A>T (p.Lys4651Ile) c.12392A>T (p.Lys4131Ile) c.11885A>T (p.Lys3962Ile) c.7352A>T (p.Lys2451Ile) c.14090A>T (p.Lys4697Ile) c.14039A>T (p.Lys4680Ile) n.14600A>T | |
| 6 | g.152330589T>C | CA366098736 | SYNE1 | c.14096A>G (p.Lys4699Arg) c.13883A>G (p.Lys4628Arg) c.13286A>G (p.Lys4429Arg) c.-1823A>G (n.-1823A>G) n.1442A>G c.14117A>G (p.Lys4706Arg) c.14066A>G (p.Lys4689Arg) c.14045A>G (p.Lys4682Arg) c.13961A>G (p.Lys4654Arg) c.13958A>G (p.Lys4653Arg) c.13952A>G (p.Lys4651Arg) c.12392A>G (p.Lys4131Arg) c.11885A>G (p.Lys3962Arg) c.7352A>G (p.Lys2451Arg) c.14090A>G (p.Lys4697Arg) c.14039A>G (p.Lys4680Arg) n.14600A>G | dbSNP |
| 6 | g.152330589T>G | CA366098735 | SYNE1 | c.14096A>C (p.Lys4699Thr) c.13883A>C (p.Lys4628Thr) c.13286A>C (p.Lys4429Thr) c.-1823A>C (n.-1823A>C) n.1442A>C c.14117A>C (p.Lys4706Thr) c.14066A>C (p.Lys4689Thr) c.14045A>C (p.Lys4682Thr) c.13961A>C (p.Lys4654Thr) c.13958A>C (p.Lys4653Thr) c.13952A>C (p.Lys4651Thr) c.12392A>C (p.Lys4131Thr) c.11885A>C (p.Lys3962Thr) c.7352A>C (p.Lys2451Thr) c.14090A>C (p.Lys4697Thr) c.14039A>C (p.Lys4680Thr) n.14600A>C | gnomAD v4 |
| 6 | g.152330589T= | CA1673274110 | SYNE1 | c.14096A= (p.Lys4699=) c.13883A= (p.Lys4628=) c.13286A= (p.Lys4429=) c.-1823A= (n.-1823A=) n.1442A= c.14117A= (p.Lys4706=) c.14066A= (p.Lys4689=) c.14045A= (p.Lys4682=) c.13961A= (p.Lys4654=) c.13958A= (p.Lys4653=) c.13952A= (p.Lys4651=) c.12392A= (p.Lys4131=) c.11885A= (p.Lys3962=) c.7352A= (p.Lys2451=) c.14090A= (p.Lys4697=) c.14039A= (p.Lys4680=) n.14600A= | |
| 6 | g.152330590T>A | CA366098737 | SYNE1 | c.14095A>T (p.Lys4699Ter) c.13882A>T (p.Lys4628Ter) c.13285A>T (p.Lys4429Ter) c.-1824A>T (n.-1824A>T) n.1441A>T c.14116A>T (p.Lys4706Ter) c.14065A>T (p.Lys4689Ter) c.14044A>T (p.Lys4682Ter) c.13960A>T (p.Lys4654Ter) c.13957A>T (p.Lys4653Ter) c.13951A>T (p.Lys4651Ter) c.12391A>T (p.Lys4131Ter) c.11884A>T (p.Lys3962Ter) c.7351A>T (p.Lys2451Ter) c.14089A>T (p.Lys4697Ter) c.14038A>T (p.Lys4680Ter) n.14599A>T | |
| 6 | g.152330590T>C | CA366098738 | SYNE1 | c.14095A>G (p.Lys4699Glu) c.13882A>G (p.Lys4628Glu) c.13285A>G (p.Lys4429Glu) c.-1824A>G (n.-1824A>G) n.1441A>G c.14116A>G (p.Lys4706Glu) c.14065A>G (p.Lys4689Glu) c.14044A>G (p.Lys4682Glu) c.13960A>G (p.Lys4654Glu) c.13957A>G (p.Lys4653Glu) c.13951A>G (p.Lys4651Glu) c.12391A>G (p.Lys4131Glu) c.11884A>G (p.Lys3962Glu) c.7351A>G (p.Lys2451Glu) c.14089A>G (p.Lys4697Glu) c.14038A>G (p.Lys4680Glu) n.14599A>G | |
| 6 | g.152330590T>G | CA366098739 | SYNE1 | c.14095A>C (p.Lys4699Gln) c.13882A>C (p.Lys4628Gln) c.13285A>C (p.Lys4429Gln) c.-1824A>C (n.-1824A>C) n.1441A>C c.14116A>C (p.Lys4706Gln) c.14065A>C (p.Lys4689Gln) c.14044A>C (p.Lys4682Gln) c.13960A>C (p.Lys4654Gln) c.13957A>C (p.Lys4653Gln) c.13951A>C (p.Lys4651Gln) c.12391A>C (p.Lys4131Gln) c.11884A>C (p.Lys3962Gln) c.7351A>C (p.Lys2451Gln) c.14089A>C (p.Lys4697Gln) c.14038A>C (p.Lys4680Gln) n.14599A>C | gnomAD v4 |
| 6 | g.152330591G>A | CA452970922 | SYNE1 | c.14094C>T (p.Ser4698=) c.13881C>T (p.Ser4627=) c.13284C>T (p.Ser4428=) c.-1825C>T (n.-1825C>T) n.1440C>T c.14115C>T (p.Ser4705=) c.14064C>T (p.Ser4688=) c.14043C>T (p.Ser4681=) c.13959C>T (p.Ser4653=) c.13956C>T (p.Ser4652=) c.13950C>T (p.Ser4650=) c.12390C>T (p.Ser4130=) c.11883C>T (p.Ser3961=) c.7350C>T (p.Ser2450=) c.14088C>T (p.Ser4696=) c.14037C>T (p.Ser4679=) n.14598C>T | gnomAD v4 |
| 6 | g.152330591G>C | CA366098740 | SYNE1 | c.14094C>G (p.Ser4698Arg) c.13881C>G (p.Ser4627Arg) c.13284C>G (p.Ser4428Arg) c.-1825C>G (n.-1825C>G) n.1440C>G c.14115C>G (p.Ser4705Arg) c.14064C>G (p.Ser4688Arg) c.14043C>G (p.Ser4681Arg) c.13959C>G (p.Ser4653Arg) c.13956C>G (p.Ser4652Arg) c.13950C>G (p.Ser4650Arg) c.12390C>G (p.Ser4130Arg) c.11883C>G (p.Ser3961Arg) c.7350C>G (p.Ser2450Arg) c.14088C>G (p.Ser4696Arg) c.14037C>G (p.Ser4679Arg) n.14598C>G | |
| 6 | g.152330591G>T | CA366098741 | SYNE1 | c.14094C>A (p.Ser4698Arg) c.13881C>A (p.Ser4627Arg) c.13284C>A (p.Ser4428Arg) c.-1825C>A (n.-1825C>A) n.1440C>A c.14115C>A (p.Ser4705Arg) c.14064C>A (p.Ser4688Arg) c.14043C>A (p.Ser4681Arg) c.13959C>A (p.Ser4653Arg) c.13956C>A (p.Ser4652Arg) c.13950C>A (p.Ser4650Arg) c.12390C>A (p.Ser4130Arg) c.11883C>A (p.Ser3961Arg) c.7350C>A (p.Ser2450Arg) c.14088C>A (p.Ser4696Arg) c.14037C>A (p.Ser4679Arg) n.14598C>A | gnomAD v4 |
| 6 | g.152330592C>A | CA4056074 | SYNE1 | c.14093G>T (p.Ser4698Ile) c.13880G>T (p.Ser4627Ile) c.13283G>T (p.Ser4428Ile) c.-1826G>T (n.-1826G>T) n.1439G>T c.14114G>T (p.Ser4705Ile) c.14063G>T (p.Ser4688Ile) c.14042G>T (p.Ser4681Ile) c.13958G>T (p.Ser4653Ile) c.13955G>T (p.Ser4652Ile) c.13949G>T (p.Ser4650Ile) c.12389G>T (p.Ser4130Ile) c.11882G>T (p.Ser3961Ile) c.7349G>T (p.Ser2450Ile) c.14087G>T (p.Ser4696Ile) c.14036G>T (p.Ser4679Ile) n.14597G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152330592C= | CA1673274113 | SYNE1 | c.14093G= (p.Ser4698=) c.13880G= (p.Ser4627=) c.13283G= (p.Ser4428=) c.-1826G= (n.-1826G=) n.1439G= c.14114G= (p.Ser4705=) c.14063G= (p.Ser4688=) c.14042G= (p.Ser4681=) c.13958G= (p.Ser4653=) c.13955G= (p.Ser4652=) c.13949G= (p.Ser4650=) c.12389G= (p.Ser4130=) c.11882G= (p.Ser3961=) c.7349G= (p.Ser2450=) c.14087G= (p.Ser4696=) c.14036G= (p.Ser4679=) n.14597G= |