WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152233847C>A | CA452751249 | SYNE1 | c.20646G>T (p.Ser6882=) c.20433G>T (p.Ser6811=) c.19431G>T (p.Ser6477=) n.4338G>T n.4230G>T c.20682G>T (p.Ser6894=) c.20670G>T (p.Ser6890=) c.20661G>T (p.Ser6887=) c.20631G>T (p.Ser6877=) c.20667G>T (p.Ser6889=) c.20610G>T (p.Ser6870=) c.20541G>T (p.Ser6847=) c.20529G>T (p.Ser6843=) c.20526G>T (p.Ser6842=) c.20523G>T (p.Ser6841=) c.20679G>T (p.Ser6893=) c.20517G>T (p.Ser6839=) c.18957G>T (p.Ser6319=) c.18450G>T (p.Ser6150=) c.13917G>T (p.Ser4639=) c.20655G>T (p.Ser6885=) c.20604G>T (p.Ser6868=) | |
| 6 | g.152233847C= | CA1673232990 | SYNE1 | c.20646G= (p.Ser6882=) c.20433G= (p.Ser6811=) c.19431G= (p.Ser6477=) n.4338G= n.4230G= c.20682G= (p.Ser6894=) c.20670G= (p.Ser6890=) c.20661G= (p.Ser6887=) c.20631G= (p.Ser6877=) c.20667G= (p.Ser6889=) c.20610G= (p.Ser6870=) c.20541G= (p.Ser6847=) c.20529G= (p.Ser6843=) c.20526G= (p.Ser6842=) c.20523G= (p.Ser6841=) c.20679G= (p.Ser6893=) c.20517G= (p.Ser6839=) c.18957G= (p.Ser6319=) c.18450G= (p.Ser6150=) c.13917G= (p.Ser4639=) c.20655G= (p.Ser6885=) c.20604G= (p.Ser6868=) | |
| 6 | g.152233847C>G | CA452751250 | SYNE1 | c.20646G>C (p.Ser6882=) c.20433G>C (p.Ser6811=) c.19431G>C (p.Ser6477=) n.4338G>C n.4230G>C c.20682G>C (p.Ser6894=) c.20670G>C (p.Ser6890=) c.20661G>C (p.Ser6887=) c.20631G>C (p.Ser6877=) c.20667G>C (p.Ser6889=) c.20610G>C (p.Ser6870=) c.20541G>C (p.Ser6847=) c.20529G>C (p.Ser6843=) c.20526G>C (p.Ser6842=) c.20523G>C (p.Ser6841=) c.20679G>C (p.Ser6893=) c.20517G>C (p.Ser6839=) c.18957G>C (p.Ser6319=) c.18450G>C (p.Ser6150=) c.13917G>C (p.Ser4639=) c.20655G>C (p.Ser6885=) c.20604G>C (p.Ser6868=) | |
| 6 | g.152233847C>T | CA4054372 | SYNE1 | c.20646G>A (p.Ser6882=) c.20433G>A (p.Ser6811=) c.19431G>A (p.Ser6477=) n.4338G>A n.4230G>A c.20682G>A (p.Ser6894=) c.20670G>A (p.Ser6890=) c.20661G>A (p.Ser6887=) c.20631G>A (p.Ser6877=) c.20667G>A (p.Ser6889=) c.20610G>A (p.Ser6870=) c.20541G>A (p.Ser6847=) c.20529G>A (p.Ser6843=) c.20526G>A (p.Ser6842=) c.20523G>A (p.Ser6841=) c.20679G>A (p.Ser6893=) c.20517G>A (p.Ser6839=) c.18957G>A (p.Ser6319=) c.18450G>A (p.Ser6150=) c.13917G>A (p.Ser4639=) c.20655G>A (p.Ser6885=) c.20604G>A (p.Ser6868=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152233848G>A | CA4054373 | SYNE1 | c.20645C>T (p.Ser6882Leu) c.20432C>T (p.Ser6811Leu) c.19430C>T (p.Ser6477Leu) n.4337C>T n.4229C>T c.20681C>T (p.Ser6894Leu) c.20669C>T (p.Ser6890Leu) c.20660C>T (p.Ser6887Leu) c.20630C>T (p.Ser6877Leu) c.20666C>T (p.Ser6889Leu) c.20609C>T (p.Ser6870Leu) c.20540C>T (p.Ser6847Leu) c.20528C>T (p.Ser6843Leu) c.20525C>T (p.Ser6842Leu) c.20522C>T (p.Ser6841Leu) c.20678C>T (p.Ser6893Leu) c.20516C>T (p.Ser6839Leu) c.18956C>T (p.Ser6319Leu) c.18449C>T (p.Ser6150Leu) c.13916C>T (p.Ser4639Leu) c.20654C>T (p.Ser6885Leu) c.20603C>T (p.Ser6868Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152233848G>C | CA366117986 | SYNE1 | c.20645C>G (p.Ser6882Trp) c.20432C>G (p.Ser6811Trp) c.19430C>G (p.Ser6477Trp) n.4337C>G n.4229C>G c.20681C>G (p.Ser6894Trp) c.20669C>G (p.Ser6890Trp) c.20660C>G (p.Ser6887Trp) c.20630C>G (p.Ser6877Trp) c.20666C>G (p.Ser6889Trp) c.20609C>G (p.Ser6870Trp) c.20540C>G (p.Ser6847Trp) c.20528C>G (p.Ser6843Trp) c.20525C>G (p.Ser6842Trp) c.20522C>G (p.Ser6841Trp) c.20678C>G (p.Ser6893Trp) c.20516C>G (p.Ser6839Trp) c.18956C>G (p.Ser6319Trp) c.18449C>G (p.Ser6150Trp) c.13916C>G (p.Ser4639Trp) c.20654C>G (p.Ser6885Trp) c.20603C>G (p.Ser6868Trp) | ClinVar gnomAD v4 |
| 6 | g.152233848G= | CA1673232992 | SYNE1 | c.20645C= (p.Ser6882=) c.20432C= (p.Ser6811=) c.19430C= (p.Ser6477=) n.4337C= n.4229C= c.20681C= (p.Ser6894=) c.20669C= (p.Ser6890=) c.20660C= (p.Ser6887=) c.20630C= (p.Ser6877=) c.20666C= (p.Ser6889=) c.20609C= (p.Ser6870=) c.20540C= (p.Ser6847=) c.20528C= (p.Ser6843=) c.20525C= (p.Ser6842=) c.20522C= (p.Ser6841=) c.20678C= (p.Ser6893=) c.20516C= (p.Ser6839=) c.18956C= (p.Ser6319=) c.18449C= (p.Ser6150=) c.13916C= (p.Ser4639=) c.20654C= (p.Ser6885=) c.20603C= (p.Ser6868=) | |
| 6 | g.152233848G>T | CA366117991 | SYNE1 | c.20645C>A (p.Ser6882Ter) c.20432C>A (p.Ser6811Ter) c.19430C>A (p.Ser6477Ter) n.4337C>A n.4229C>A c.20681C>A (p.Ser6894Ter) c.20669C>A (p.Ser6890Ter) c.20660C>A (p.Ser6887Ter) c.20630C>A (p.Ser6877Ter) c.20666C>A (p.Ser6889Ter) c.20609C>A (p.Ser6870Ter) c.20540C>A (p.Ser6847Ter) c.20528C>A (p.Ser6843Ter) c.20525C>A (p.Ser6842Ter) c.20522C>A (p.Ser6841Ter) c.20678C>A (p.Ser6893Ter) c.20516C>A (p.Ser6839Ter) c.18956C>A (p.Ser6319Ter) c.18449C>A (p.Ser6150Ter) c.13916C>A (p.Ser4639Ter) c.20654C>A (p.Ser6885Ter) c.20603C>A (p.Ser6868Ter) | gnomAD v4 |
| 6 | g.152233849A= | CA1673232995 | SYNE1 | c.20644T= (p.Ser6882=) c.20431T= (p.Ser6811=) c.19429T= (p.Ser6477=) n.4336T= n.4228T= c.20680T= (p.Ser6894=) c.20668T= (p.Ser6890=) c.20659T= (p.Ser6887=) c.20629T= (p.Ser6877=) c.20665T= (p.Ser6889=) c.20608T= (p.Ser6870=) c.20539T= (p.Ser6847=) c.20527T= (p.Ser6843=) c.20524T= (p.Ser6842=) c.20521T= (p.Ser6841=) c.20677T= (p.Ser6893=) c.20515T= (p.Ser6839=) c.18955T= (p.Ser6319=) c.18448T= (p.Ser6150=) c.13915T= (p.Ser4639=) c.20653T= (p.Ser6885=) c.20602T= (p.Ser6868=) | |
| 6 | g.152233849A>C | CA366117997 | SYNE1 | c.20644T>G (p.Ser6882Ala) c.20431T>G (p.Ser6811Ala) c.19429T>G (p.Ser6477Ala) n.4336T>G n.4228T>G c.20680T>G (p.Ser6894Ala) c.20668T>G (p.Ser6890Ala) c.20659T>G (p.Ser6887Ala) c.20629T>G (p.Ser6877Ala) c.20665T>G (p.Ser6889Ala) c.20608T>G (p.Ser6870Ala) c.20539T>G (p.Ser6847Ala) c.20527T>G (p.Ser6843Ala) c.20524T>G (p.Ser6842Ala) c.20521T>G (p.Ser6841Ala) c.20677T>G (p.Ser6893Ala) c.20515T>G (p.Ser6839Ala) c.18955T>G (p.Ser6319Ala) c.18448T>G (p.Ser6150Ala) c.13915T>G (p.Ser4639Ala) c.20653T>G (p.Ser6885Ala) c.20602T>G (p.Ser6868Ala) | |
| 6 | g.152233849A>G | CA366117999 | SYNE1 | c.20644T>C (p.Ser6882Pro) c.20431T>C (p.Ser6811Pro) c.19429T>C (p.Ser6477Pro) n.4336T>C n.4228T>C c.20680T>C (p.Ser6894Pro) c.20668T>C (p.Ser6890Pro) c.20659T>C (p.Ser6887Pro) c.20629T>C (p.Ser6877Pro) c.20665T>C (p.Ser6889Pro) c.20608T>C (p.Ser6870Pro) c.20539T>C (p.Ser6847Pro) c.20527T>C (p.Ser6843Pro) c.20524T>C (p.Ser6842Pro) c.20521T>C (p.Ser6841Pro) c.20677T>C (p.Ser6893Pro) c.20515T>C (p.Ser6839Pro) c.18955T>C (p.Ser6319Pro) c.18448T>C (p.Ser6150Pro) c.13915T>C (p.Ser4639Pro) c.20653T>C (p.Ser6885Pro) c.20602T>C (p.Ser6868Pro) | gnomAD v4 |
| 6 | g.152233849A>T | CA4054374 | SYNE1 | c.20644T>A (p.Ser6882Thr) c.20431T>A (p.Ser6811Thr) c.19429T>A (p.Ser6477Thr) n.4336T>A n.4228T>A c.20680T>A (p.Ser6894Thr) c.20668T>A (p.Ser6890Thr) c.20659T>A (p.Ser6887Thr) c.20629T>A (p.Ser6877Thr) c.20665T>A (p.Ser6889Thr) c.20608T>A (p.Ser6870Thr) c.20539T>A (p.Ser6847Thr) c.20527T>A (p.Ser6843Thr) c.20524T>A (p.Ser6842Thr) c.20521T>A (p.Ser6841Thr) c.20677T>A (p.Ser6893Thr) c.20515T>A (p.Ser6839Thr) c.18955T>A (p.Ser6319Thr) c.18448T>A (p.Ser6150Thr) c.13915T>A (p.Ser4639Thr) c.20653T>A (p.Ser6885Thr) c.20602T>A (p.Ser6868Thr) | dbSNP ExAC gnomAD v2 |
| 6 | g.152233850C>A | CA452751251 | SYNE1 | c.20643G>T (p.Leu6881=) c.20430G>T (p.Leu6810=) c.19428G>T (p.Leu6476=) n.4335G>T n.4227G>T c.20679G>T (p.Leu6893=) c.20667G>T (p.Leu6889=) c.20658G>T (p.Leu6886=) c.20628G>T (p.Leu6876=) c.20664G>T (p.Leu6888=) c.20607G>T (p.Leu6869=) c.20538G>T (p.Leu6846=) c.20526G>T (p.Leu6842=) c.20523G>T (p.Leu6841=) c.20520G>T (p.Leu6840=) c.20676G>T (p.Leu6892=) c.20514G>T (p.Leu6838=) c.18954G>T (p.Leu6318=) c.18447G>T (p.Leu6149=) c.13914G>T (p.Leu4638=) c.20652G>T (p.Leu6884=) c.20601G>T (p.Leu6867=) | |
| 6 | g.152233850C>G | CA452751252 | SYNE1 | c.20643G>C (p.Leu6881=) c.20430G>C (p.Leu6810=) c.19428G>C (p.Leu6476=) n.4335G>C n.4227G>C c.20679G>C (p.Leu6893=) c.20667G>C (p.Leu6889=) c.20658G>C (p.Leu6886=) c.20628G>C (p.Leu6876=) c.20664G>C (p.Leu6888=) c.20607G>C (p.Leu6869=) c.20538G>C (p.Leu6846=) c.20526G>C (p.Leu6842=) c.20523G>C (p.Leu6841=) c.20520G>C (p.Leu6840=) c.20676G>C (p.Leu6892=) c.20514G>C (p.Leu6838=) c.18954G>C (p.Leu6318=) c.18447G>C (p.Leu6149=) c.13914G>C (p.Leu4638=) c.20652G>C (p.Leu6884=) c.20601G>C (p.Leu6867=) | |
| 6 | g.152233850C>T | CA452751254 | SYNE1 | c.20643G>A (p.Leu6881=) c.20430G>A (p.Leu6810=) c.19428G>A (p.Leu6476=) n.4335G>A n.4227G>A c.20679G>A (p.Leu6893=) c.20667G>A (p.Leu6889=) c.20658G>A (p.Leu6886=) c.20628G>A (p.Leu6876=) c.20664G>A (p.Leu6888=) c.20607G>A (p.Leu6869=) c.20538G>A (p.Leu6846=) c.20526G>A (p.Leu6842=) c.20523G>A (p.Leu6841=) c.20520G>A (p.Leu6840=) c.20676G>A (p.Leu6892=) c.20514G>A (p.Leu6838=) c.18954G>A (p.Leu6318=) c.18447G>A (p.Leu6149=) c.13914G>A (p.Leu4638=) c.20652G>A (p.Leu6884=) c.20601G>A (p.Leu6867=) | |
| 6 | g.152233851A>C | CA366118016 | SYNE1 | c.20642T>G (p.Leu6881Arg) c.20429T>G (p.Leu6810Arg) c.19427T>G (p.Leu6476Arg) n.4334T>G n.4226T>G c.20678T>G (p.Leu6893Arg) c.20666T>G (p.Leu6889Arg) c.20657T>G (p.Leu6886Arg) c.20627T>G (p.Leu6876Arg) c.20663T>G (p.Leu6888Arg) c.20606T>G (p.Leu6869Arg) c.20537T>G (p.Leu6846Arg) c.20525T>G (p.Leu6842Arg) c.20522T>G (p.Leu6841Arg) c.20519T>G (p.Leu6840Arg) c.20675T>G (p.Leu6892Arg) c.20513T>G (p.Leu6838Arg) c.18953T>G (p.Leu6318Arg) c.18446T>G (p.Leu6149Arg) c.13913T>G (p.Leu4638Arg) c.20651T>G (p.Leu6884Arg) c.20600T>G (p.Leu6867Arg) | |
| 6 | g.152233851A>G | CA366118014 | SYNE1 | c.20642T>C (p.Leu6881Pro) c.20429T>C (p.Leu6810Pro) c.19427T>C (p.Leu6476Pro) n.4334T>C n.4226T>C c.20678T>C (p.Leu6893Pro) c.20666T>C (p.Leu6889Pro) c.20657T>C (p.Leu6886Pro) c.20627T>C (p.Leu6876Pro) c.20663T>C (p.Leu6888Pro) c.20606T>C (p.Leu6869Pro) c.20537T>C (p.Leu6846Pro) c.20525T>C (p.Leu6842Pro) c.20522T>C (p.Leu6841Pro) c.20519T>C (p.Leu6840Pro) c.20675T>C (p.Leu6892Pro) c.20513T>C (p.Leu6838Pro) c.18953T>C (p.Leu6318Pro) c.18446T>C (p.Leu6149Pro) c.13913T>C (p.Leu4638Pro) c.20651T>C (p.Leu6884Pro) c.20600T>C (p.Leu6867Pro) | |
| 6 | g.152233851A>T | CA366118015 | SYNE1 | c.20642T>A (p.Leu6881Gln) c.20429T>A (p.Leu6810Gln) c.19427T>A (p.Leu6476Gln) n.4334T>A n.4226T>A c.20678T>A (p.Leu6893Gln) c.20666T>A (p.Leu6889Gln) c.20657T>A (p.Leu6886Gln) c.20627T>A (p.Leu6876Gln) c.20663T>A (p.Leu6888Gln) c.20606T>A (p.Leu6869Gln) c.20537T>A (p.Leu6846Gln) c.20525T>A (p.Leu6842Gln) c.20522T>A (p.Leu6841Gln) c.20519T>A (p.Leu6840Gln) c.20675T>A (p.Leu6892Gln) c.20513T>A (p.Leu6838Gln) c.18953T>A (p.Leu6318Gln) c.18446T>A (p.Leu6149Gln) c.13913T>A (p.Leu4638Gln) c.20651T>A (p.Leu6884Gln) c.20600T>A (p.Leu6867Gln) | |
| 6 | g.152233851_152233852delinsAG | CA1673232997 | SYNE1 | c.20641_20642delinsCT (p.Leu6881=) c.20428_20429delinsCT (p.Leu6810=) c.19426_19427delinsCT (p.Leu6476=) n.4333_4334delinsCT n.4225_4226delinsCT c.20677_20678delinsCT (p.Leu6893=) c.20665_20666delinsCT (p.Leu6889=) c.20656_20657delinsCT (p.Leu6886=) c.20626_20627delinsCT (p.Leu6876=) c.20662_20663delinsCT (p.Leu6888=) c.20605_20606delinsCT (p.Leu6869=) c.20536_20537delinsCT (p.Leu6846=) c.20524_20525delinsCT (p.Leu6842=) c.20521_20522delinsCT (p.Leu6841=) c.20518_20519delinsCT (p.Leu6840=) c.20674_20675delinsCT (p.Leu6892=) c.20512_20513delinsCT (p.Leu6838=) c.18952_18953delinsCT (p.Leu6318=) c.18445_18446delinsCT (p.Leu6149=) c.13912_13913delinsCT (p.Leu4638=) c.20650_20651delinsCT (p.Leu6884=) c.20599_20600delinsCT (p.Leu6867=) | |
| 6 | g.152233852del | CA1139659871 | SYNE1 | c.20641del (p.Leu6881CysfsTer12) c.20428del (p.Leu6810CysfsTer12) c.19426del (p.Leu6476CysfsTer12) n.4333del n.4225del c.20677del (p.Leu6893CysfsTer12) c.20665del (p.Leu6889CysfsTer12) c.20656del (p.Leu6886CysfsTer12) c.20626del (p.Leu6876CysfsTer12) c.20662del (p.Leu6888CysfsTer12) c.20605del (p.Leu6869CysfsTer12) c.20536del (p.Leu6846CysfsTer12) c.20524del (p.Leu6842CysfsTer12) c.20521del (p.Leu6841CysfsTer12) c.20518del (p.Leu6840CysfsTer12) c.20674del (p.Leu6892CysfsTer12) c.20512del (p.Leu6838CysfsTer12) c.18952del (p.Leu6318CysfsTer12) c.18445del (p.Leu6149CysfsTer12) c.13912del (p.Leu4638CysfsTer12) c.20650del (p.Leu6884CysfsTer12) c.20599del (p.Leu6867CysfsTer12) | ClinVar dbSNP |
| 6 | g.152233852G>A | CA452751256 | SYNE1 | c.20641C>T (p.Leu6881=) c.20428C>T (p.Leu6810=) c.19426C>T (p.Leu6476=) n.4333C>T n.4225C>T c.20677C>T (p.Leu6893=) c.20665C>T (p.Leu6889=) c.20656C>T (p.Leu6886=) c.20626C>T (p.Leu6876=) c.20662C>T (p.Leu6888=) c.20605C>T (p.Leu6869=) c.20536C>T (p.Leu6846=) c.20524C>T (p.Leu6842=) c.20521C>T (p.Leu6841=) c.20518C>T (p.Leu6840=) c.20674C>T (p.Leu6892=) c.20512C>T (p.Leu6838=) c.18952C>T (p.Leu6318=) c.18445C>T (p.Leu6149=) c.13912C>T (p.Leu4638=) c.20650C>T (p.Leu6884=) c.20599C>T (p.Leu6867=) | dbSNP gnomAD v4 |
| 6 | g.152233852G>C | CA366118020 | SYNE1 | c.20641C>G (p.Leu6881Val) c.20428C>G (p.Leu6810Val) c.19426C>G (p.Leu6476Val) n.4333C>G n.4225C>G c.20677C>G (p.Leu6893Val) c.20665C>G (p.Leu6889Val) c.20656C>G (p.Leu6886Val) c.20626C>G (p.Leu6876Val) c.20662C>G (p.Leu6888Val) c.20605C>G (p.Leu6869Val) c.20536C>G (p.Leu6846Val) c.20524C>G (p.Leu6842Val) c.20521C>G (p.Leu6841Val) c.20518C>G (p.Leu6840Val) c.20674C>G (p.Leu6892Val) c.20512C>G (p.Leu6838Val) c.18952C>G (p.Leu6318Val) c.18445C>G (p.Leu6149Val) c.13912C>G (p.Leu4638Val) c.20650C>G (p.Leu6884Val) c.20599C>G (p.Leu6867Val) | gnomAD v4 |
| 6 | g.152233852G= | CA1673232999 | SYNE1 | c.20641C= (p.Leu6881=) c.20428C= (p.Leu6810=) c.19426C= (p.Leu6476=) n.4333C= n.4225C= c.20677C= (p.Leu6893=) c.20665C= (p.Leu6889=) c.20656C= (p.Leu6886=) c.20626C= (p.Leu6876=) c.20662C= (p.Leu6888=) c.20605C= (p.Leu6869=) c.20536C= (p.Leu6846=) c.20524C= (p.Leu6842=) c.20521C= (p.Leu6841=) c.20518C= (p.Leu6840=) c.20674C= (p.Leu6892=) c.20512C= (p.Leu6838=) c.18952C= (p.Leu6318=) c.18445C= (p.Leu6149=) c.13912C= (p.Leu4638=) c.20650C= (p.Leu6884=) c.20599C= (p.Leu6867=) | |
| 6 | g.152233852G>T | CA366118023 | SYNE1 | c.20641C>A (p.Leu6881Met) c.20428C>A (p.Leu6810Met) c.19426C>A (p.Leu6476Met) n.4333C>A n.4225C>A c.20677C>A (p.Leu6893Met) c.20665C>A (p.Leu6889Met) c.20656C>A (p.Leu6886Met) c.20626C>A (p.Leu6876Met) c.20662C>A (p.Leu6888Met) c.20605C>A (p.Leu6869Met) c.20536C>A (p.Leu6846Met) c.20524C>A (p.Leu6842Met) c.20521C>A (p.Leu6841Met) c.20518C>A (p.Leu6840Met) c.20674C>A (p.Leu6892Met) c.20512C>A (p.Leu6838Met) c.18952C>A (p.Leu6318Met) c.18445C>A (p.Leu6149Met) c.13912C>A (p.Leu4638Met) c.20650C>A (p.Leu6884Met) c.20599C>A (p.Leu6867Met) | gnomAD v4 |
| 6 | g.152233853C>A | CA366118029 | SYNE1 | c.20640G>T (p.Glu6880Asp) c.20427G>T (p.Glu6809Asp) c.19425G>T (p.Glu6475Asp) n.4332G>T n.4224G>T c.20676G>T (p.Glu6892Asp) c.20664G>T (p.Glu6888Asp) c.20655G>T (p.Glu6885Asp) c.20625G>T (p.Glu6875Asp) c.20661G>T (p.Glu6887Asp) c.20604G>T (p.Glu6868Asp) c.20535G>T (p.Glu6845Asp) c.20523G>T (p.Glu6841Asp) c.20520G>T (p.Glu6840Asp) c.20517G>T (p.Glu6839Asp) c.20673G>T (p.Glu6891Asp) c.20511G>T (p.Glu6837Asp) c.18951G>T (p.Glu6317Asp) c.18444G>T (p.Glu6148Asp) c.13911G>T (p.Glu4637Asp) c.20649G>T (p.Glu6883Asp) c.20598G>T (p.Glu6866Asp) | |
| 6 | g.152233853C>G | CA366118031 | SYNE1 | c.20640G>C (p.Glu6880Asp) c.20427G>C (p.Glu6809Asp) c.19425G>C (p.Glu6475Asp) n.4332G>C n.4224G>C c.20676G>C (p.Glu6892Asp) c.20664G>C (p.Glu6888Asp) c.20655G>C (p.Glu6885Asp) c.20625G>C (p.Glu6875Asp) c.20661G>C (p.Glu6887Asp) c.20604G>C (p.Glu6868Asp) c.20535G>C (p.Glu6845Asp) c.20523G>C (p.Glu6841Asp) c.20520G>C (p.Glu6840Asp) c.20517G>C (p.Glu6839Asp) c.20673G>C (p.Glu6891Asp) c.20511G>C (p.Glu6837Asp) c.18951G>C (p.Glu6317Asp) c.18444G>C (p.Glu6148Asp) c.13911G>C (p.Glu4637Asp) c.20649G>C (p.Glu6883Asp) c.20598G>C (p.Glu6866Asp) | |
| 6 | g.152233853C>T | CA452751261 | SYNE1 | c.20640G>A (p.Glu6880=) c.20427G>A (p.Glu6809=) c.19425G>A (p.Glu6475=) n.4332G>A n.4224G>A c.20676G>A (p.Glu6892=) c.20664G>A (p.Glu6888=) c.20655G>A (p.Glu6885=) c.20625G>A (p.Glu6875=) c.20661G>A (p.Glu6887=) c.20604G>A (p.Glu6868=) c.20535G>A (p.Glu6845=) c.20523G>A (p.Glu6841=) c.20520G>A (p.Glu6840=) c.20517G>A (p.Glu6839=) c.20673G>A (p.Glu6891=) c.20511G>A (p.Glu6837=) c.18951G>A (p.Glu6317=) c.18444G>A (p.Glu6148=) c.13911G>A (p.Glu4637=) c.20649G>A (p.Glu6883=) c.20598G>A (p.Glu6866=) | |
| 6 | g.152233854T>A | CA366118036 | SYNE1 | c.20639A>T (p.Glu6880Val) c.20426A>T (p.Glu6809Val) c.19424A>T (p.Glu6475Val) n.4331A>T n.4223A>T c.20675A>T (p.Glu6892Val) c.20663A>T (p.Glu6888Val) c.20654A>T (p.Glu6885Val) c.20624A>T (p.Glu6875Val) c.20660A>T (p.Glu6887Val) c.20603A>T (p.Glu6868Val) c.20534A>T (p.Glu6845Val) c.20522A>T (p.Glu6841Val) c.20519A>T (p.Glu6840Val) c.20516A>T (p.Glu6839Val) c.20672A>T (p.Glu6891Val) c.20510A>T (p.Glu6837Val) c.18950A>T (p.Glu6317Val) c.18443A>T (p.Glu6148Val) c.13910A>T (p.Glu4637Val) c.20648A>T (p.Glu6883Val) c.20597A>T (p.Glu6866Val) | |
| 6 | g.152233854T>C | CA366118042 | SYNE1 | c.20639A>G (p.Glu6880Gly) c.20426A>G (p.Glu6809Gly) c.19424A>G (p.Glu6475Gly) n.4331A>G n.4223A>G c.20675A>G (p.Glu6892Gly) c.20663A>G (p.Glu6888Gly) c.20654A>G (p.Glu6885Gly) c.20624A>G (p.Glu6875Gly) c.20660A>G (p.Glu6887Gly) c.20603A>G (p.Glu6868Gly) c.20534A>G (p.Glu6845Gly) c.20522A>G (p.Glu6841Gly) c.20519A>G (p.Glu6840Gly) c.20516A>G (p.Glu6839Gly) c.20672A>G (p.Glu6891Gly) c.20510A>G (p.Glu6837Gly) c.18950A>G (p.Glu6317Gly) c.18443A>G (p.Glu6148Gly) c.13910A>G (p.Glu4637Gly) c.20648A>G (p.Glu6883Gly) c.20597A>G (p.Glu6866Gly) | |
| 6 | g.152233854T>G | CA366118045 | SYNE1 | c.20639A>C (p.Glu6880Ala) c.20426A>C (p.Glu6809Ala) c.19424A>C (p.Glu6475Ala) n.4331A>C n.4223A>C c.20675A>C (p.Glu6892Ala) c.20663A>C (p.Glu6888Ala) c.20654A>C (p.Glu6885Ala) c.20624A>C (p.Glu6875Ala) c.20660A>C (p.Glu6887Ala) c.20603A>C (p.Glu6868Ala) c.20534A>C (p.Glu6845Ala) c.20522A>C (p.Glu6841Ala) c.20519A>C (p.Glu6840Ala) c.20516A>C (p.Glu6839Ala) c.20672A>C (p.Glu6891Ala) c.20510A>C (p.Glu6837Ala) c.18950A>C (p.Glu6317Ala) c.18443A>C (p.Glu6148Ala) c.13910A>C (p.Glu4637Ala) c.20648A>C (p.Glu6883Ala) c.20597A>C (p.Glu6866Ala) | gnomAD v4 |
| 6 | g.152233855C>A | CA366118048 | SYNE1 | c.20638G>T (p.Glu6880Ter) c.20425G>T (p.Glu6809Ter) c.19423G>T (p.Glu6475Ter) n.4330G>T n.4222G>T c.20674G>T (p.Glu6892Ter) c.20662G>T (p.Glu6888Ter) c.20653G>T (p.Glu6885Ter) c.20623G>T (p.Glu6875Ter) c.20659G>T (p.Glu6887Ter) c.20602G>T (p.Glu6868Ter) c.20533G>T (p.Glu6845Ter) c.20521G>T (p.Glu6841Ter) c.20518G>T (p.Glu6840Ter) c.20515G>T (p.Glu6839Ter) c.20671G>T (p.Glu6891Ter) c.20509G>T (p.Glu6837Ter) c.18949G>T (p.Glu6317Ter) c.18442G>T (p.Glu6148Ter) c.13909G>T (p.Glu4637Ter) c.20647G>T (p.Glu6883Ter) c.20596G>T (p.Glu6866Ter) | |
| 6 | g.152233855C>G | CA366118051 | SYNE1 | c.20638G>C (p.Glu6880Gln) c.20425G>C (p.Glu6809Gln) c.19423G>C (p.Glu6475Gln) n.4330G>C n.4222G>C c.20674G>C (p.Glu6892Gln) c.20662G>C (p.Glu6888Gln) c.20653G>C (p.Glu6885Gln) c.20623G>C (p.Glu6875Gln) c.20659G>C (p.Glu6887Gln) c.20602G>C (p.Glu6868Gln) c.20533G>C (p.Glu6845Gln) c.20521G>C (p.Glu6841Gln) c.20518G>C (p.Glu6840Gln) c.20515G>C (p.Glu6839Gln) c.20671G>C (p.Glu6891Gln) c.20509G>C (p.Glu6837Gln) c.18949G>C (p.Glu6317Gln) c.18442G>C (p.Glu6148Gln) c.13909G>C (p.Glu4637Gln) c.20647G>C (p.Glu6883Gln) c.20596G>C (p.Glu6866Gln) | |
| 6 | g.152233855C>T | CA366118053 | SYNE1 | c.20638G>A (p.Glu6880Lys) c.20425G>A (p.Glu6809Lys) c.19423G>A (p.Glu6475Lys) n.4330G>A n.4222G>A c.20674G>A (p.Glu6892Lys) c.20662G>A (p.Glu6888Lys) c.20653G>A (p.Glu6885Lys) c.20623G>A (p.Glu6875Lys) c.20659G>A (p.Glu6887Lys) c.20602G>A (p.Glu6868Lys) c.20533G>A (p.Glu6845Lys) c.20521G>A (p.Glu6841Lys) c.20518G>A (p.Glu6840Lys) c.20515G>A (p.Glu6839Lys) c.20671G>A (p.Glu6891Lys) c.20509G>A (p.Glu6837Lys) c.18949G>A (p.Glu6317Lys) c.18442G>A (p.Glu6148Lys) c.13909G>A (p.Glu4637Lys) c.20647G>A (p.Glu6883Lys) c.20596G>A (p.Glu6866Lys) | gnomAD v4 |
| 6 | g.152233856A>C | CA452751262 | SYNE1 | c.20637T>G (p.Ser6879=) c.20424T>G (p.Ser6808=) c.19422T>G (p.Ser6474=) n.4329T>G n.4221T>G c.20673T>G (p.Ser6891=) c.20661T>G (p.Ser6887=) c.20652T>G (p.Ser6884=) c.20622T>G (p.Ser6874=) c.20658T>G (p.Ser6886=) c.20601T>G (p.Ser6867=) c.20532T>G (p.Ser6844=) c.20520T>G (p.Ser6840=) c.20517T>G (p.Ser6839=) c.20514T>G (p.Ser6838=) c.20670T>G (p.Ser6890=) c.20508T>G (p.Ser6836=) c.18948T>G (p.Ser6316=) c.18441T>G (p.Ser6147=) c.13908T>G (p.Ser4636=) c.20646T>G (p.Ser6882=) c.20595T>G (p.Ser6865=) | |
| 6 | g.152233856A>G | CA452751264 | SYNE1 | c.20637T>C (p.Ser6879=) c.20424T>C (p.Ser6808=) c.19422T>C (p.Ser6474=) n.4329T>C n.4221T>C c.20673T>C (p.Ser6891=) c.20661T>C (p.Ser6887=) c.20652T>C (p.Ser6884=) c.20622T>C (p.Ser6874=) c.20658T>C (p.Ser6886=) c.20601T>C (p.Ser6867=) c.20532T>C (p.Ser6844=) c.20520T>C (p.Ser6840=) c.20517T>C (p.Ser6839=) c.20514T>C (p.Ser6838=) c.20670T>C (p.Ser6890=) c.20508T>C (p.Ser6836=) c.18948T>C (p.Ser6316=) c.18441T>C (p.Ser6147=) c.13908T>C (p.Ser4636=) c.20646T>C (p.Ser6882=) c.20595T>C (p.Ser6865=) | |
| 6 | g.152233856A>T | CA452751266 | SYNE1 | c.20637T>A (p.Ser6879=) c.20424T>A (p.Ser6808=) c.19422T>A (p.Ser6474=) n.4329T>A n.4221T>A c.20673T>A (p.Ser6891=) c.20661T>A (p.Ser6887=) c.20652T>A (p.Ser6884=) c.20622T>A (p.Ser6874=) c.20658T>A (p.Ser6886=) c.20601T>A (p.Ser6867=) c.20532T>A (p.Ser6844=) c.20520T>A (p.Ser6840=) c.20517T>A (p.Ser6839=) c.20514T>A (p.Ser6838=) c.20670T>A (p.Ser6890=) c.20508T>A (p.Ser6836=) c.18948T>A (p.Ser6316=) c.18441T>A (p.Ser6147=) c.13908T>A (p.Ser4636=) c.20646T>A (p.Ser6882=) c.20595T>A (p.Ser6865=) | |
| 6 | g.152233857G>A | CA366118055 | SYNE1 | c.20636C>T (p.Ser6879Phe) c.20423C>T (p.Ser6808Phe) c.19421C>T (p.Ser6474Phe) n.4328C>T n.4220C>T c.20672C>T (p.Ser6891Phe) c.20660C>T (p.Ser6887Phe) c.20651C>T (p.Ser6884Phe) c.20621C>T (p.Ser6874Phe) c.20657C>T (p.Ser6886Phe) c.20600C>T (p.Ser6867Phe) c.20531C>T (p.Ser6844Phe) c.20519C>T (p.Ser6840Phe) c.20516C>T (p.Ser6839Phe) c.20513C>T (p.Ser6838Phe) c.20669C>T (p.Ser6890Phe) c.20507C>T (p.Ser6836Phe) c.18947C>T (p.Ser6316Phe) c.18440C>T (p.Ser6147Phe) c.13907C>T (p.Ser4636Phe) c.20645C>T (p.Ser6882Phe) c.20594C>T (p.Ser6865Phe) | ClinVar dbSNP gnomAD v4 |
| 6 | g.152233857G>C | CA366118056 | SYNE1 | c.20636C>G (p.Ser6879Cys) c.20423C>G (p.Ser6808Cys) c.19421C>G (p.Ser6474Cys) n.4328C>G n.4220C>G c.20672C>G (p.Ser6891Cys) c.20660C>G (p.Ser6887Cys) c.20651C>G (p.Ser6884Cys) c.20621C>G (p.Ser6874Cys) c.20657C>G (p.Ser6886Cys) c.20600C>G (p.Ser6867Cys) c.20531C>G (p.Ser6844Cys) c.20519C>G (p.Ser6840Cys) c.20516C>G (p.Ser6839Cys) c.20513C>G (p.Ser6838Cys) c.20669C>G (p.Ser6890Cys) c.20507C>G (p.Ser6836Cys) c.18947C>G (p.Ser6316Cys) c.18440C>G (p.Ser6147Cys) c.13907C>G (p.Ser4636Cys) c.20645C>G (p.Ser6882Cys) c.20594C>G (p.Ser6865Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152233857G= | CA1673233000 | SYNE1 | c.20636C= (p.Ser6879=) c.20423C= (p.Ser6808=) c.19421C= (p.Ser6474=) n.4328C= n.4220C= c.20672C= (p.Ser6891=) c.20660C= (p.Ser6887=) c.20651C= (p.Ser6884=) c.20621C= (p.Ser6874=) c.20657C= (p.Ser6886=) c.20600C= (p.Ser6867=) c.20531C= (p.Ser6844=) c.20519C= (p.Ser6840=) c.20516C= (p.Ser6839=) c.20513C= (p.Ser6838=) c.20669C= (p.Ser6890=) c.20507C= (p.Ser6836=) c.18947C= (p.Ser6316=) c.18440C= (p.Ser6147=) c.13907C= (p.Ser4636=) c.20645C= (p.Ser6882=) c.20594C= (p.Ser6865=) | |
| 6 | g.152233857G>T | CA4054375 | SYNE1 | c.20636C>A (p.Ser6879Tyr) c.20423C>A (p.Ser6808Tyr) c.19421C>A (p.Ser6474Tyr) n.4328C>A n.4220C>A c.20672C>A (p.Ser6891Tyr) c.20660C>A (p.Ser6887Tyr) c.20651C>A (p.Ser6884Tyr) c.20621C>A (p.Ser6874Tyr) c.20657C>A (p.Ser6886Tyr) c.20600C>A (p.Ser6867Tyr) c.20531C>A (p.Ser6844Tyr) c.20519C>A (p.Ser6840Tyr) c.20516C>A (p.Ser6839Tyr) c.20513C>A (p.Ser6838Tyr) c.20669C>A (p.Ser6890Tyr) c.20507C>A (p.Ser6836Tyr) c.18947C>A (p.Ser6316Tyr) c.18440C>A (p.Ser6147Tyr) c.13907C>A (p.Ser4636Tyr) c.20645C>A (p.Ser6882Tyr) c.20594C>A (p.Ser6865Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152233858A>C | CA366118059 | SYNE1 | c.20635T>G (p.Ser6879Ala) c.20422T>G (p.Ser6808Ala) c.19420T>G (p.Ser6474Ala) n.4327T>G n.4219T>G c.20671T>G (p.Ser6891Ala) c.20659T>G (p.Ser6887Ala) c.20650T>G (p.Ser6884Ala) c.20620T>G (p.Ser6874Ala) c.20656T>G (p.Ser6886Ala) c.20599T>G (p.Ser6867Ala) c.20530T>G (p.Ser6844Ala) c.20518T>G (p.Ser6840Ala) c.20515T>G (p.Ser6839Ala) c.20512T>G (p.Ser6838Ala) c.20668T>G (p.Ser6890Ala) c.20506T>G (p.Ser6836Ala) c.18946T>G (p.Ser6316Ala) c.18439T>G (p.Ser6147Ala) c.13906T>G (p.Ser4636Ala) c.20644T>G (p.Ser6882Ala) c.20593T>G (p.Ser6865Ala) | |
| 6 | g.152233858A>G | CA366118060 | SYNE1 | c.20635T>C (p.Ser6879Pro) c.20422T>C (p.Ser6808Pro) c.19420T>C (p.Ser6474Pro) n.4327T>C n.4219T>C c.20671T>C (p.Ser6891Pro) c.20659T>C (p.Ser6887Pro) c.20650T>C (p.Ser6884Pro) c.20620T>C (p.Ser6874Pro) c.20656T>C (p.Ser6886Pro) c.20599T>C (p.Ser6867Pro) c.20530T>C (p.Ser6844Pro) c.20518T>C (p.Ser6840Pro) c.20515T>C (p.Ser6839Pro) c.20512T>C (p.Ser6838Pro) c.20668T>C (p.Ser6890Pro) c.20506T>C (p.Ser6836Pro) c.18946T>C (p.Ser6316Pro) c.18439T>C (p.Ser6147Pro) c.13906T>C (p.Ser4636Pro) c.20644T>C (p.Ser6882Pro) c.20593T>C (p.Ser6865Pro) | |
| 6 | g.152233858A>T | CA366118062 | SYNE1 | c.20635T>A (p.Ser6879Thr) c.20422T>A (p.Ser6808Thr) c.19420T>A (p.Ser6474Thr) n.4327T>A n.4219T>A c.20671T>A (p.Ser6891Thr) c.20659T>A (p.Ser6887Thr) c.20650T>A (p.Ser6884Thr) c.20620T>A (p.Ser6874Thr) c.20656T>A (p.Ser6886Thr) c.20599T>A (p.Ser6867Thr) c.20530T>A (p.Ser6844Thr) c.20518T>A (p.Ser6840Thr) c.20515T>A (p.Ser6839Thr) c.20512T>A (p.Ser6838Thr) c.20668T>A (p.Ser6890Thr) c.20506T>A (p.Ser6836Thr) c.18946T>A (p.Ser6316Thr) c.18439T>A (p.Ser6147Thr) c.13906T>A (p.Ser4636Thr) c.20644T>A (p.Ser6882Thr) c.20593T>A (p.Ser6865Thr) | |
| 6 | g.152233859G>A | CA452751268 | SYNE1 | c.20634C>T (p.Arg6878=) c.20421C>T (p.Arg6807=) c.19419C>T (p.Arg6473=) n.4326C>T n.4218C>T c.20670C>T (p.Arg6890=) c.20658C>T (p.Arg6886=) c.20649C>T (p.Arg6883=) c.20619C>T (p.Arg6873=) c.20655C>T (p.Arg6885=) c.20598C>T (p.Arg6866=) c.20529C>T (p.Arg6843=) c.20517C>T (p.Arg6839=) c.20514C>T (p.Arg6838=) c.20511C>T (p.Arg6837=) c.20667C>T (p.Arg6889=) c.20505C>T (p.Arg6835=) c.18945C>T (p.Arg6315=) c.18438C>T (p.Arg6146=) c.13905C>T (p.Arg4635=) c.20643C>T (p.Arg6881=) c.20592C>T (p.Arg6864=) | |
| 6 | g.152233859G>C | CA452751270 | SYNE1 | c.20634C>G (p.Arg6878=) c.20421C>G (p.Arg6807=) c.19419C>G (p.Arg6473=) n.4326C>G n.4218C>G c.20670C>G (p.Arg6890=) c.20658C>G (p.Arg6886=) c.20649C>G (p.Arg6883=) c.20619C>G (p.Arg6873=) c.20655C>G (p.Arg6885=) c.20598C>G (p.Arg6866=) c.20529C>G (p.Arg6843=) c.20517C>G (p.Arg6839=) c.20514C>G (p.Arg6838=) c.20511C>G (p.Arg6837=) c.20667C>G (p.Arg6889=) c.20505C>G (p.Arg6835=) c.18945C>G (p.Arg6315=) c.18438C>G (p.Arg6146=) c.13905C>G (p.Arg4635=) c.20643C>G (p.Arg6881=) c.20592C>G (p.Arg6864=) | |
| 6 | g.152233859G>T | CA452751269 | SYNE1 | c.20634C>A (p.Arg6878=) c.20421C>A (p.Arg6807=) c.19419C>A (p.Arg6473=) n.4326C>A n.4218C>A c.20670C>A (p.Arg6890=) c.20658C>A (p.Arg6886=) c.20649C>A (p.Arg6883=) c.20619C>A (p.Arg6873=) c.20655C>A (p.Arg6885=) c.20598C>A (p.Arg6866=) c.20529C>A (p.Arg6843=) c.20517C>A (p.Arg6839=) c.20514C>A (p.Arg6838=) c.20511C>A (p.Arg6837=) c.20667C>A (p.Arg6889=) c.20505C>A (p.Arg6835=) c.18945C>A (p.Arg6315=) c.18438C>A (p.Arg6146=) c.13905C>A (p.Arg4635=) c.20643C>A (p.Arg6881=) c.20592C>A (p.Arg6864=) | |
| 6 | g.152233860C>A | CA366118087 | SYNE1 | c.20633G>T (p.Arg6878Leu) c.20420G>T (p.Arg6807Leu) c.19418G>T (p.Arg6473Leu) n.4325G>T n.4217G>T c.20669G>T (p.Arg6890Leu) c.20657G>T (p.Arg6886Leu) c.20648G>T (p.Arg6883Leu) c.20618G>T (p.Arg6873Leu) c.20654G>T (p.Arg6885Leu) c.20597G>T (p.Arg6866Leu) c.20528G>T (p.Arg6843Leu) c.20516G>T (p.Arg6839Leu) c.20513G>T (p.Arg6838Leu) c.20510G>T (p.Arg6837Leu) c.20666G>T (p.Arg6889Leu) c.20504G>T (p.Arg6835Leu) c.18944G>T (p.Arg6315Leu) c.18437G>T (p.Arg6146Leu) c.13904G>T (p.Arg4635Leu) c.20642G>T (p.Arg6881Leu) c.20591G>T (p.Arg6864Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152233860C= | CA1673233003 | SYNE1 | c.20633G= (p.Arg6878=) c.20420G= (p.Arg6807=) c.19418G= (p.Arg6473=) n.4325G= n.4217G= c.20669G= (p.Arg6890=) c.20657G= (p.Arg6886=) c.20648G= (p.Arg6883=) c.20618G= (p.Arg6873=) c.20654G= (p.Arg6885=) c.20597G= (p.Arg6866=) c.20528G= (p.Arg6843=) c.20516G= (p.Arg6839=) c.20513G= (p.Arg6838=) c.20510G= (p.Arg6837=) c.20666G= (p.Arg6889=) c.20504G= (p.Arg6835=) c.18944G= (p.Arg6315=) c.18437G= (p.Arg6146=) c.13904G= (p.Arg4635=) c.20642G= (p.Arg6881=) c.20591G= (p.Arg6864=) | |
| 6 | g.152233860C>G | CA366118099 | SYNE1 | c.20633G>C (p.Arg6878Pro) c.20420G>C (p.Arg6807Pro) c.19418G>C (p.Arg6473Pro) n.4325G>C n.4217G>C c.20669G>C (p.Arg6890Pro) c.20657G>C (p.Arg6886Pro) c.20648G>C (p.Arg6883Pro) c.20618G>C (p.Arg6873Pro) c.20654G>C (p.Arg6885Pro) c.20597G>C (p.Arg6866Pro) c.20528G>C (p.Arg6843Pro) c.20516G>C (p.Arg6839Pro) c.20513G>C (p.Arg6838Pro) c.20510G>C (p.Arg6837Pro) c.20666G>C (p.Arg6889Pro) c.20504G>C (p.Arg6835Pro) c.18944G>C (p.Arg6315Pro) c.18437G>C (p.Arg6146Pro) c.13904G>C (p.Arg4635Pro) c.20642G>C (p.Arg6881Pro) c.20591G>C (p.Arg6864Pro) | |
| 6 | g.152233860C>T | CA4054376 | SYNE1 | c.20633G>A (p.Arg6878His) c.20420G>A (p.Arg6807His) c.19418G>A (p.Arg6473His) n.4325G>A n.4217G>A c.20669G>A (p.Arg6890His) c.20657G>A (p.Arg6886His) c.20648G>A (p.Arg6883His) c.20618G>A (p.Arg6873His) c.20654G>A (p.Arg6885His) c.20597G>A (p.Arg6866His) c.20528G>A (p.Arg6843His) c.20516G>A (p.Arg6839His) c.20513G>A (p.Arg6838His) c.20510G>A (p.Arg6837His) c.20666G>A (p.Arg6889His) c.20504G>A (p.Arg6835His) c.18944G>A (p.Arg6315His) c.18437G>A (p.Arg6146His) c.13904G>A (p.Arg4635His) c.20642G>A (p.Arg6881His) c.20591G>A (p.Arg6864His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |