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.152236211A= | CA1673235261 | SYNE1 | c.20292T= (p.Asp6764=) c.20079T= (p.Asp6693=) c.19077T= (p.Asp6359=) n.3984T= n.3876T= c.20328T= (p.Asp6776=) c.20316T= (p.Asp6772=) c.20307T= (p.Asp6769=) c.20277T= (p.Asp6759=) c.20313T= (p.Asp6771=) c.20256T= (p.Asp6752=) c.20187T= (p.Asp6729=) c.20175T= (p.Asp6725=) c.20172T= (p.Asp6724=) c.20169T= (p.Asp6723=) c.20325T= (p.Asp6775=) c.20163T= (p.Asp6721=) c.18603T= (p.Asp6201=) c.18096T= (p.Asp6032=) c.13563T= (p.Asp4521=) c.20301T= (p.Asp6767=) c.20250T= (p.Asp6750=) | |
| 6 | g.152236211A>C | CA366122240 | SYNE1 | c.20292T>G (p.Asp6764Glu) c.20079T>G (p.Asp6693Glu) c.19077T>G (p.Asp6359Glu) n.3984T>G n.3876T>G c.20328T>G (p.Asp6776Glu) c.20316T>G (p.Asp6772Glu) c.20307T>G (p.Asp6769Glu) c.20277T>G (p.Asp6759Glu) c.20313T>G (p.Asp6771Glu) c.20256T>G (p.Asp6752Glu) c.20187T>G (p.Asp6729Glu) c.20175T>G (p.Asp6725Glu) c.20172T>G (p.Asp6724Glu) c.20169T>G (p.Asp6723Glu) c.20325T>G (p.Asp6775Glu) c.20163T>G (p.Asp6721Glu) c.18603T>G (p.Asp6201Glu) c.18096T>G (p.Asp6032Glu) c.13563T>G (p.Asp4521Glu) c.20301T>G (p.Asp6767Glu) c.20250T>G (p.Asp6750Glu) | |
| 6 | g.152236211A>G | CA4054454 | SYNE1 | c.20292T>C (p.Asp6764=) c.20079T>C (p.Asp6693=) c.19077T>C (p.Asp6359=) n.3984T>C n.3876T>C c.20328T>C (p.Asp6776=) c.20316T>C (p.Asp6772=) c.20307T>C (p.Asp6769=) c.20277T>C (p.Asp6759=) c.20313T>C (p.Asp6771=) c.20256T>C (p.Asp6752=) c.20187T>C (p.Asp6729=) c.20175T>C (p.Asp6725=) c.20172T>C (p.Asp6724=) c.20169T>C (p.Asp6723=) c.20325T>C (p.Asp6775=) c.20163T>C (p.Asp6721=) c.18603T>C (p.Asp6201=) c.18096T>C (p.Asp6032=) c.13563T>C (p.Asp4521=) c.20301T>C (p.Asp6767=) c.20250T>C (p.Asp6750=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152236211A>T | CA366122251 | SYNE1 | c.20292T>A (p.Asp6764Glu) c.20079T>A (p.Asp6693Glu) c.19077T>A (p.Asp6359Glu) n.3984T>A n.3876T>A c.20328T>A (p.Asp6776Glu) c.20316T>A (p.Asp6772Glu) c.20307T>A (p.Asp6769Glu) c.20277T>A (p.Asp6759Glu) c.20313T>A (p.Asp6771Glu) c.20256T>A (p.Asp6752Glu) c.20187T>A (p.Asp6729Glu) c.20175T>A (p.Asp6725Glu) c.20172T>A (p.Asp6724Glu) c.20169T>A (p.Asp6723Glu) c.20325T>A (p.Asp6775Glu) c.20163T>A (p.Asp6721Glu) c.18603T>A (p.Asp6201Glu) c.18096T>A (p.Asp6032Glu) c.13563T>A (p.Asp4521Glu) c.20301T>A (p.Asp6767Glu) c.20250T>A (p.Asp6750Glu) | |
| 6 | g.152236212T>A | CA366122259 | SYNE1 | c.20291A>T (p.Asp6764Val) c.20078A>T (p.Asp6693Val) c.19076A>T (p.Asp6359Val) n.3983A>T n.3875A>T c.20327A>T (p.Asp6776Val) c.20315A>T (p.Asp6772Val) c.20306A>T (p.Asp6769Val) c.20276A>T (p.Asp6759Val) c.20312A>T (p.Asp6771Val) c.20255A>T (p.Asp6752Val) c.20186A>T (p.Asp6729Val) c.20174A>T (p.Asp6725Val) c.20171A>T (p.Asp6724Val) c.20168A>T (p.Asp6723Val) c.20324A>T (p.Asp6775Val) c.20162A>T (p.Asp6721Val) c.18602A>T (p.Asp6201Val) c.18095A>T (p.Asp6032Val) c.13562A>T (p.Asp4521Val) c.20300A>T (p.Asp6767Val) c.20249A>T (p.Asp6750Val) | |
| 6 | g.152236212T>C | CA366122258 | SYNE1 | c.20291A>G (p.Asp6764Gly) c.20078A>G (p.Asp6693Gly) c.19076A>G (p.Asp6359Gly) n.3983A>G n.3875A>G c.20327A>G (p.Asp6776Gly) c.20315A>G (p.Asp6772Gly) c.20306A>G (p.Asp6769Gly) c.20276A>G (p.Asp6759Gly) c.20312A>G (p.Asp6771Gly) c.20255A>G (p.Asp6752Gly) c.20186A>G (p.Asp6729Gly) c.20174A>G (p.Asp6725Gly) c.20171A>G (p.Asp6724Gly) c.20168A>G (p.Asp6723Gly) c.20324A>G (p.Asp6775Gly) c.20162A>G (p.Asp6721Gly) c.18602A>G (p.Asp6201Gly) c.18095A>G (p.Asp6032Gly) c.13562A>G (p.Asp4521Gly) c.20300A>G (p.Asp6767Gly) c.20249A>G (p.Asp6750Gly) | |
| 6 | g.152236212T>G | CA366122256 | SYNE1 | c.20291A>C (p.Asp6764Ala) c.20078A>C (p.Asp6693Ala) c.19076A>C (p.Asp6359Ala) n.3983A>C n.3875A>C c.20327A>C (p.Asp6776Ala) c.20315A>C (p.Asp6772Ala) c.20306A>C (p.Asp6769Ala) c.20276A>C (p.Asp6759Ala) c.20312A>C (p.Asp6771Ala) c.20255A>C (p.Asp6752Ala) c.20186A>C (p.Asp6729Ala) c.20174A>C (p.Asp6725Ala) c.20171A>C (p.Asp6724Ala) c.20168A>C (p.Asp6723Ala) c.20324A>C (p.Asp6775Ala) c.20162A>C (p.Asp6721Ala) c.18602A>C (p.Asp6201Ala) c.18095A>C (p.Asp6032Ala) c.13562A>C (p.Asp4521Ala) c.20300A>C (p.Asp6767Ala) c.20249A>C (p.Asp6750Ala) | |
| 6 | g.152236213C>A | CA366122262 | SYNE1 | c.20290G>T (p.Asp6764Tyr) c.20077G>T (p.Asp6693Tyr) c.19075G>T (p.Asp6359Tyr) n.3982G>T n.3874G>T c.20326G>T (p.Asp6776Tyr) c.20314G>T (p.Asp6772Tyr) c.20305G>T (p.Asp6769Tyr) c.20275G>T (p.Asp6759Tyr) c.20311G>T (p.Asp6771Tyr) c.20254G>T (p.Asp6752Tyr) c.20185G>T (p.Asp6729Tyr) c.20173G>T (p.Asp6725Tyr) c.20170G>T (p.Asp6724Tyr) c.20167G>T (p.Asp6723Tyr) c.20323G>T (p.Asp6775Tyr) c.20161G>T (p.Asp6721Tyr) c.18601G>T (p.Asp6201Tyr) c.18094G>T (p.Asp6032Tyr) c.13561G>T (p.Asp4521Tyr) c.20299G>T (p.Asp6767Tyr) c.20248G>T (p.Asp6750Tyr) | |
| 6 | g.152236213C>G | CA366122264 | SYNE1 | c.20290G>C (p.Asp6764His) c.20077G>C (p.Asp6693His) c.19075G>C (p.Asp6359His) n.3982G>C n.3874G>C c.20326G>C (p.Asp6776His) c.20314G>C (p.Asp6772His) c.20305G>C (p.Asp6769His) c.20275G>C (p.Asp6759His) c.20311G>C (p.Asp6771His) c.20254G>C (p.Asp6752His) c.20185G>C (p.Asp6729His) c.20173G>C (p.Asp6725His) c.20170G>C (p.Asp6724His) c.20167G>C (p.Asp6723His) c.20323G>C (p.Asp6775His) c.20161G>C (p.Asp6721His) c.18601G>C (p.Asp6201His) c.18094G>C (p.Asp6032His) c.13561G>C (p.Asp4521His) c.20299G>C (p.Asp6767His) c.20248G>C (p.Asp6750His) | |
| 6 | g.152236213C>T | CA366122266 | SYNE1 | c.20290G>A (p.Asp6764Asn) c.20077G>A (p.Asp6693Asn) c.19075G>A (p.Asp6359Asn) n.3982G>A n.3874G>A c.20326G>A (p.Asp6776Asn) c.20314G>A (p.Asp6772Asn) c.20305G>A (p.Asp6769Asn) c.20275G>A (p.Asp6759Asn) c.20311G>A (p.Asp6771Asn) c.20254G>A (p.Asp6752Asn) c.20185G>A (p.Asp6729Asn) c.20173G>A (p.Asp6725Asn) c.20170G>A (p.Asp6724Asn) c.20167G>A (p.Asp6723Asn) c.20323G>A (p.Asp6775Asn) c.20161G>A (p.Asp6721Asn) c.18601G>A (p.Asp6201Asn) c.18094G>A (p.Asp6032Asn) c.13561G>A (p.Asp4521Asn) c.20299G>A (p.Asp6767Asn) c.20248G>A (p.Asp6750Asn) | |
| 6 | g.152236214T>A | CA452751935 | SYNE1 | c.20289A>T (p.Ser6763=) c.20076A>T (p.Ser6692=) c.19074A>T (p.Ser6358=) n.3981A>T n.3873A>T c.20325A>T (p.Ser6775=) c.20313A>T (p.Ser6771=) c.20304A>T (p.Ser6768=) c.20274A>T (p.Ser6758=) c.20310A>T (p.Ser6770=) c.20253A>T (p.Ser6751=) c.20184A>T (p.Ser6728=) c.20172A>T (p.Ser6724=) c.20169A>T (p.Ser6723=) c.20166A>T (p.Ser6722=) c.20322A>T (p.Ser6774=) c.20160A>T (p.Ser6720=) c.18600A>T (p.Ser6200=) c.18093A>T (p.Ser6031=) c.13560A>T (p.Ser4520=) c.20298A>T (p.Ser6766=) c.20247A>T (p.Ser6749=) | |
| 6 | g.152236214T>C | CA4054455 | SYNE1 | c.20289A>G (p.Ser6763=) c.20076A>G (p.Ser6692=) c.19074A>G (p.Ser6358=) n.3981A>G n.3873A>G c.20325A>G (p.Ser6775=) c.20313A>G (p.Ser6771=) c.20304A>G (p.Ser6768=) c.20274A>G (p.Ser6758=) c.20310A>G (p.Ser6770=) c.20253A>G (p.Ser6751=) c.20184A>G (p.Ser6728=) c.20172A>G (p.Ser6724=) c.20169A>G (p.Ser6723=) c.20166A>G (p.Ser6722=) c.20322A>G (p.Ser6774=) c.20160A>G (p.Ser6720=) c.18600A>G (p.Ser6200=) c.18093A>G (p.Ser6031=) c.13560A>G (p.Ser4520=) c.20298A>G (p.Ser6766=) c.20247A>G (p.Ser6749=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152236214T>G | CA452751936 | SYNE1 | c.20289A>C (p.Ser6763=) c.20076A>C (p.Ser6692=) c.19074A>C (p.Ser6358=) n.3981A>C n.3873A>C c.20325A>C (p.Ser6775=) c.20313A>C (p.Ser6771=) c.20304A>C (p.Ser6768=) c.20274A>C (p.Ser6758=) c.20310A>C (p.Ser6770=) c.20253A>C (p.Ser6751=) c.20184A>C (p.Ser6728=) c.20172A>C (p.Ser6724=) c.20169A>C (p.Ser6723=) c.20166A>C (p.Ser6722=) c.20322A>C (p.Ser6774=) c.20160A>C (p.Ser6720=) c.18600A>C (p.Ser6200=) c.18093A>C (p.Ser6031=) c.13560A>C (p.Ser4520=) c.20298A>C (p.Ser6766=) c.20247A>C (p.Ser6749=) | |
| 6 | g.152236214T= | CA1673235265 | SYNE1 | c.20289A= (p.Ser6763=) c.20076A= (p.Ser6692=) c.19074A= (p.Ser6358=) n.3981A= n.3873A= c.20325A= (p.Ser6775=) c.20313A= (p.Ser6771=) c.20304A= (p.Ser6768=) c.20274A= (p.Ser6758=) c.20310A= (p.Ser6770=) c.20253A= (p.Ser6751=) c.20184A= (p.Ser6728=) c.20172A= (p.Ser6724=) c.20169A= (p.Ser6723=) c.20166A= (p.Ser6722=) c.20322A= (p.Ser6774=) c.20160A= (p.Ser6720=) c.18600A= (p.Ser6200=) c.18093A= (p.Ser6031=) c.13560A= (p.Ser4520=) c.20298A= (p.Ser6766=) c.20247A= (p.Ser6749=) | |
| 6 | g.152236215G>A | CA4054456 | SYNE1 | c.20288C>T (p.Ser6763Leu) c.20075C>T (p.Ser6692Leu) c.19073C>T (p.Ser6358Leu) n.3980C>T n.3872C>T c.20324C>T (p.Ser6775Leu) c.20312C>T (p.Ser6771Leu) c.20303C>T (p.Ser6768Leu) c.20273C>T (p.Ser6758Leu) c.20309C>T (p.Ser6770Leu) c.20252C>T (p.Ser6751Leu) c.20183C>T (p.Ser6728Leu) c.20171C>T (p.Ser6724Leu) c.20168C>T (p.Ser6723Leu) c.20165C>T (p.Ser6722Leu) c.20321C>T (p.Ser6774Leu) c.20159C>T (p.Ser6720Leu) c.18599C>T (p.Ser6200Leu) c.18092C>T (p.Ser6031Leu) c.13559C>T (p.Ser4520Leu) c.20297C>T (p.Ser6766Leu) c.20246C>T (p.Ser6749Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152236215G>C | CA366122276 | SYNE1 | c.20288C>G (p.Ser6763Ter) c.20075C>G (p.Ser6692Ter) c.19073C>G (p.Ser6358Ter) n.3980C>G n.3872C>G c.20324C>G (p.Ser6775Ter) c.20312C>G (p.Ser6771Ter) c.20303C>G (p.Ser6768Ter) c.20273C>G (p.Ser6758Ter) c.20309C>G (p.Ser6770Ter) c.20252C>G (p.Ser6751Ter) c.20183C>G (p.Ser6728Ter) c.20171C>G (p.Ser6724Ter) c.20168C>G (p.Ser6723Ter) c.20165C>G (p.Ser6722Ter) c.20321C>G (p.Ser6774Ter) c.20159C>G (p.Ser6720Ter) c.18599C>G (p.Ser6200Ter) c.18092C>G (p.Ser6031Ter) c.13559C>G (p.Ser4520Ter) c.20297C>G (p.Ser6766Ter) c.20246C>G (p.Ser6749Ter) | |
| 6 | g.152236215G= | CA1673235270 | SYNE1 | c.20288C= (p.Ser6763=) c.20075C= (p.Ser6692=) c.19073C= (p.Ser6358=) n.3980C= n.3872C= c.20324C= (p.Ser6775=) c.20312C= (p.Ser6771=) c.20303C= (p.Ser6768=) c.20273C= (p.Ser6758=) c.20309C= (p.Ser6770=) c.20252C= (p.Ser6751=) c.20183C= (p.Ser6728=) c.20171C= (p.Ser6724=) c.20168C= (p.Ser6723=) c.20165C= (p.Ser6722=) c.20321C= (p.Ser6774=) c.20159C= (p.Ser6720=) c.18599C= (p.Ser6200=) c.18092C= (p.Ser6031=) c.13559C= (p.Ser4520=) c.20297C= (p.Ser6766=) c.20246C= (p.Ser6749=) | |
| 6 | g.152236215G>T | CA366122280 | SYNE1 | c.20288C>A (p.Ser6763Ter) c.20075C>A (p.Ser6692Ter) c.19073C>A (p.Ser6358Ter) n.3980C>A n.3872C>A c.20324C>A (p.Ser6775Ter) c.20312C>A (p.Ser6771Ter) c.20303C>A (p.Ser6768Ter) c.20273C>A (p.Ser6758Ter) c.20309C>A (p.Ser6770Ter) c.20252C>A (p.Ser6751Ter) c.20183C>A (p.Ser6728Ter) c.20171C>A (p.Ser6724Ter) c.20168C>A (p.Ser6723Ter) c.20165C>A (p.Ser6722Ter) c.20321C>A (p.Ser6774Ter) c.20159C>A (p.Ser6720Ter) c.18599C>A (p.Ser6200Ter) c.18092C>A (p.Ser6031Ter) c.13559C>A (p.Ser4520Ter) c.20297C>A (p.Ser6766Ter) c.20246C>A (p.Ser6749Ter) | |
| 6 | g.152236216A>C | CA366122283 | SYNE1 | c.20287T>G (p.Ser6763Ala) c.20074T>G (p.Ser6692Ala) c.19072T>G (p.Ser6358Ala) n.3979T>G n.3871T>G c.20323T>G (p.Ser6775Ala) c.20311T>G (p.Ser6771Ala) c.20302T>G (p.Ser6768Ala) c.20272T>G (p.Ser6758Ala) c.20308T>G (p.Ser6770Ala) c.20251T>G (p.Ser6751Ala) c.20182T>G (p.Ser6728Ala) c.20170T>G (p.Ser6724Ala) c.20167T>G (p.Ser6723Ala) c.20164T>G (p.Ser6722Ala) c.20320T>G (p.Ser6774Ala) c.20158T>G (p.Ser6720Ala) c.18598T>G (p.Ser6200Ala) c.18091T>G (p.Ser6031Ala) c.13558T>G (p.Ser4520Ala) c.20296T>G (p.Ser6766Ala) c.20245T>G (p.Ser6749Ala) | |
| 6 | g.152236216A>G | CA366122289 | SYNE1 | c.20287T>C (p.Ser6763Pro) c.20074T>C (p.Ser6692Pro) c.19072T>C (p.Ser6358Pro) n.3979T>C n.3871T>C c.20323T>C (p.Ser6775Pro) c.20311T>C (p.Ser6771Pro) c.20302T>C (p.Ser6768Pro) c.20272T>C (p.Ser6758Pro) c.20308T>C (p.Ser6770Pro) c.20251T>C (p.Ser6751Pro) c.20182T>C (p.Ser6728Pro) c.20170T>C (p.Ser6724Pro) c.20167T>C (p.Ser6723Pro) c.20164T>C (p.Ser6722Pro) c.20320T>C (p.Ser6774Pro) c.20158T>C (p.Ser6720Pro) c.18598T>C (p.Ser6200Pro) c.18091T>C (p.Ser6031Pro) c.13558T>C (p.Ser4520Pro) c.20296T>C (p.Ser6766Pro) c.20245T>C (p.Ser6749Pro) | |
| 6 | g.152236216A>T | CA366122291 | SYNE1 | c.20287T>A (p.Ser6763Thr) c.20074T>A (p.Ser6692Thr) c.19072T>A (p.Ser6358Thr) n.3979T>A n.3871T>A c.20323T>A (p.Ser6775Thr) c.20311T>A (p.Ser6771Thr) c.20302T>A (p.Ser6768Thr) c.20272T>A (p.Ser6758Thr) c.20308T>A (p.Ser6770Thr) c.20251T>A (p.Ser6751Thr) c.20182T>A (p.Ser6728Thr) c.20170T>A (p.Ser6724Thr) c.20167T>A (p.Ser6723Thr) c.20164T>A (p.Ser6722Thr) c.20320T>A (p.Ser6774Thr) c.20158T>A (p.Ser6720Thr) c.18598T>A (p.Ser6200Thr) c.18091T>A (p.Ser6031Thr) c.13558T>A (p.Ser4520Thr) c.20296T>A (p.Ser6766Thr) c.20245T>A (p.Ser6749Thr) | |
| 6 | g.152236217G>A | CA452751938 | SYNE1 | c.20286C>T (p.Cys6762=) c.20073C>T (p.Cys6691=) c.19071C>T (p.Cys6357=) n.3978C>T n.3870C>T c.20322C>T (p.Cys6774=) c.20310C>T (p.Cys6770=) c.20301C>T (p.Cys6767=) c.20271C>T (p.Cys6757=) c.20307C>T (p.Cys6769=) c.20250C>T (p.Cys6750=) c.20181C>T (p.Cys6727=) c.20169C>T (p.Cys6723=) c.20166C>T (p.Cys6722=) c.20163C>T (p.Cys6721=) c.20319C>T (p.Cys6773=) c.20157C>T (p.Cys6719=) c.18597C>T (p.Cys6199=) c.18090C>T (p.Cys6030=) c.13557C>T (p.Cys4519=) c.20295C>T (p.Cys6765=) c.20244C>T (p.Cys6748=) | |
| 6 | g.152236217G>C | CA366122294 | SYNE1 | c.20286C>G (p.Cys6762Trp) c.20073C>G (p.Cys6691Trp) c.19071C>G (p.Cys6357Trp) n.3978C>G n.3870C>G c.20322C>G (p.Cys6774Trp) c.20310C>G (p.Cys6770Trp) c.20301C>G (p.Cys6767Trp) c.20271C>G (p.Cys6757Trp) c.20307C>G (p.Cys6769Trp) c.20250C>G (p.Cys6750Trp) c.20181C>G (p.Cys6727Trp) c.20169C>G (p.Cys6723Trp) c.20166C>G (p.Cys6722Trp) c.20163C>G (p.Cys6721Trp) c.20319C>G (p.Cys6773Trp) c.20157C>G (p.Cys6719Trp) c.18597C>G (p.Cys6199Trp) c.18090C>G (p.Cys6030Trp) c.13557C>G (p.Cys4519Trp) c.20295C>G (p.Cys6765Trp) c.20244C>G (p.Cys6748Trp) | |
| 6 | g.152236217G>T | CA366122296 | SYNE1 | c.20286C>A (p.Cys6762Ter) c.20073C>A (p.Cys6691Ter) c.19071C>A (p.Cys6357Ter) n.3978C>A n.3870C>A c.20322C>A (p.Cys6774Ter) c.20310C>A (p.Cys6770Ter) c.20301C>A (p.Cys6767Ter) c.20271C>A (p.Cys6757Ter) c.20307C>A (p.Cys6769Ter) c.20250C>A (p.Cys6750Ter) c.20181C>A (p.Cys6727Ter) c.20169C>A (p.Cys6723Ter) c.20166C>A (p.Cys6722Ter) c.20163C>A (p.Cys6721Ter) c.20319C>A (p.Cys6773Ter) c.20157C>A (p.Cys6719Ter) c.18597C>A (p.Cys6199Ter) c.18090C>A (p.Cys6030Ter) c.13557C>A (p.Cys4519Ter) c.20295C>A (p.Cys6765Ter) c.20244C>A (p.Cys6748Ter) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152236218C>A | CA366122301 | SYNE1 | c.20285G>T (p.Cys6762Phe) c.20072G>T (p.Cys6691Phe) c.19070G>T (p.Cys6357Phe) n.3977G>T n.3869G>T c.20321G>T (p.Cys6774Phe) c.20309G>T (p.Cys6770Phe) c.20300G>T (p.Cys6767Phe) c.20270G>T (p.Cys6757Phe) c.20306G>T (p.Cys6769Phe) c.20249G>T (p.Cys6750Phe) c.20180G>T (p.Cys6727Phe) c.20168G>T (p.Cys6723Phe) c.20165G>T (p.Cys6722Phe) c.20162G>T (p.Cys6721Phe) c.20318G>T (p.Cys6773Phe) c.20156G>T (p.Cys6719Phe) c.18596G>T (p.Cys6199Phe) c.18089G>T (p.Cys6030Phe) c.13556G>T (p.Cys4519Phe) c.20294G>T (p.Cys6765Phe) c.20243G>T (p.Cys6748Phe) | |
| 6 | g.152236218C>G | CA366122305 | SYNE1 | c.20285G>C (p.Cys6762Ser) c.20072G>C (p.Cys6691Ser) c.19070G>C (p.Cys6357Ser) n.3977G>C n.3869G>C c.20321G>C (p.Cys6774Ser) c.20309G>C (p.Cys6770Ser) c.20300G>C (p.Cys6767Ser) c.20270G>C (p.Cys6757Ser) c.20306G>C (p.Cys6769Ser) c.20249G>C (p.Cys6750Ser) c.20180G>C (p.Cys6727Ser) c.20168G>C (p.Cys6723Ser) c.20165G>C (p.Cys6722Ser) c.20162G>C (p.Cys6721Ser) c.20318G>C (p.Cys6773Ser) c.20156G>C (p.Cys6719Ser) c.18596G>C (p.Cys6199Ser) c.18089G>C (p.Cys6030Ser) c.13556G>C (p.Cys4519Ser) c.20294G>C (p.Cys6765Ser) c.20243G>C (p.Cys6748Ser) | |
| 6 | g.152236218C>T | CA366122304 | SYNE1 | c.20285G>A (p.Cys6762Tyr) c.20072G>A (p.Cys6691Tyr) c.19070G>A (p.Cys6357Tyr) n.3977G>A n.3869G>A c.20321G>A (p.Cys6774Tyr) c.20309G>A (p.Cys6770Tyr) c.20300G>A (p.Cys6767Tyr) c.20270G>A (p.Cys6757Tyr) c.20306G>A (p.Cys6769Tyr) c.20249G>A (p.Cys6750Tyr) c.20180G>A (p.Cys6727Tyr) c.20168G>A (p.Cys6723Tyr) c.20165G>A (p.Cys6722Tyr) c.20162G>A (p.Cys6721Tyr) c.20318G>A (p.Cys6773Tyr) c.20156G>A (p.Cys6719Tyr) c.18596G>A (p.Cys6199Tyr) c.18089G>A (p.Cys6030Tyr) c.13556G>A (p.Cys4519Tyr) c.20294G>A (p.Cys6765Tyr) c.20243G>A (p.Cys6748Tyr) | gnomAD v4 |
| 6 | g.152236219A>C | CA366122306 | SYNE1 | c.20284T>G (p.Cys6762Gly) c.20071T>G (p.Cys6691Gly) c.19069T>G (p.Cys6357Gly) n.3976T>G n.3868T>G c.20320T>G (p.Cys6774Gly) c.20308T>G (p.Cys6770Gly) c.20299T>G (p.Cys6767Gly) c.20269T>G (p.Cys6757Gly) c.20305T>G (p.Cys6769Gly) c.20248T>G (p.Cys6750Gly) c.20179T>G (p.Cys6727Gly) c.20167T>G (p.Cys6723Gly) c.20164T>G (p.Cys6722Gly) c.20161T>G (p.Cys6721Gly) c.20317T>G (p.Cys6773Gly) c.20155T>G (p.Cys6719Gly) c.18595T>G (p.Cys6199Gly) c.18088T>G (p.Cys6030Gly) c.13555T>G (p.Cys4519Gly) c.20293T>G (p.Cys6765Gly) c.20242T>G (p.Cys6748Gly) | |
| 6 | g.152236219A>G | CA366122309 | SYNE1 | c.20284T>C (p.Cys6762Arg) c.20071T>C (p.Cys6691Arg) c.19069T>C (p.Cys6357Arg) n.3976T>C n.3868T>C c.20320T>C (p.Cys6774Arg) c.20308T>C (p.Cys6770Arg) c.20299T>C (p.Cys6767Arg) c.20269T>C (p.Cys6757Arg) c.20305T>C (p.Cys6769Arg) c.20248T>C (p.Cys6750Arg) c.20179T>C (p.Cys6727Arg) c.20167T>C (p.Cys6723Arg) c.20164T>C (p.Cys6722Arg) c.20161T>C (p.Cys6721Arg) c.20317T>C (p.Cys6773Arg) c.20155T>C (p.Cys6719Arg) c.18595T>C (p.Cys6199Arg) c.18088T>C (p.Cys6030Arg) c.13555T>C (p.Cys4519Arg) c.20293T>C (p.Cys6765Arg) c.20242T>C (p.Cys6748Arg) | gnomAD v4 |
| 6 | g.152236219A>T | CA366122307 | SYNE1 | c.20284T>A (p.Cys6762Ser) c.20071T>A (p.Cys6691Ser) c.19069T>A (p.Cys6357Ser) n.3976T>A n.3868T>A c.20320T>A (p.Cys6774Ser) c.20308T>A (p.Cys6770Ser) c.20299T>A (p.Cys6767Ser) c.20269T>A (p.Cys6757Ser) c.20305T>A (p.Cys6769Ser) c.20248T>A (p.Cys6750Ser) c.20179T>A (p.Cys6727Ser) c.20167T>A (p.Cys6723Ser) c.20164T>A (p.Cys6722Ser) c.20161T>A (p.Cys6721Ser) c.20317T>A (p.Cys6773Ser) c.20155T>A (p.Cys6719Ser) c.18595T>A (p.Cys6199Ser) c.18088T>A (p.Cys6030Ser) c.13555T>A (p.Cys4519Ser) c.20293T>A (p.Cys6765Ser) c.20242T>A (p.Cys6748Ser) | |
| 6 | g.152236220G>A | CA452751942 | SYNE1 | c.20283C>T (p.Ser6761=) c.20070C>T (p.Ser6690=) c.19068C>T (p.Ser6356=) n.3975C>T n.3867C>T c.20319C>T (p.Ser6773=) c.20307C>T (p.Ser6769=) c.20298C>T (p.Ser6766=) c.20268C>T (p.Ser6756=) c.20304C>T (p.Ser6768=) c.20247C>T (p.Ser6749=) c.20178C>T (p.Ser6726=) c.20166C>T (p.Ser6722=) c.20163C>T (p.Ser6721=) c.20160C>T (p.Ser6720=) c.20316C>T (p.Ser6772=) c.20154C>T (p.Ser6718=) c.18594C>T (p.Ser6198=) c.18087C>T (p.Ser6029=) c.13554C>T (p.Ser4518=) c.20292C>T (p.Ser6764=) c.20241C>T (p.Ser6747=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152236220G>C | CA366122312 | SYNE1 | c.20283C>G (p.Ser6761Arg) c.20070C>G (p.Ser6690Arg) c.19068C>G (p.Ser6356Arg) n.3975C>G n.3867C>G c.20319C>G (p.Ser6773Arg) c.20307C>G (p.Ser6769Arg) c.20298C>G (p.Ser6766Arg) c.20268C>G (p.Ser6756Arg) c.20304C>G (p.Ser6768Arg) c.20247C>G (p.Ser6749Arg) c.20178C>G (p.Ser6726Arg) c.20166C>G (p.Ser6722Arg) c.20163C>G (p.Ser6721Arg) c.20160C>G (p.Ser6720Arg) c.20316C>G (p.Ser6772Arg) c.20154C>G (p.Ser6718Arg) c.18594C>G (p.Ser6198Arg) c.18087C>G (p.Ser6029Arg) c.13554C>G (p.Ser4518Arg) c.20292C>G (p.Ser6764Arg) c.20241C>G (p.Ser6747Arg) | |
| 6 | g.152236220G= | CA1673235276 | SYNE1 | c.20283C= (p.Ser6761=) c.20070C= (p.Ser6690=) c.19068C= (p.Ser6356=) n.3975C= n.3867C= c.20319C= (p.Ser6773=) c.20307C= (p.Ser6769=) c.20298C= (p.Ser6766=) c.20268C= (p.Ser6756=) c.20304C= (p.Ser6768=) c.20247C= (p.Ser6749=) c.20178C= (p.Ser6726=) c.20166C= (p.Ser6722=) c.20163C= (p.Ser6721=) c.20160C= (p.Ser6720=) c.20316C= (p.Ser6772=) c.20154C= (p.Ser6718=) c.18594C= (p.Ser6198=) c.18087C= (p.Ser6029=) c.13554C= (p.Ser4518=) c.20292C= (p.Ser6764=) c.20241C= (p.Ser6747=) | |
| 6 | g.152236220G>T | CA366122317 | SYNE1 | c.20283C>A (p.Ser6761Arg) c.20070C>A (p.Ser6690Arg) c.19068C>A (p.Ser6356Arg) n.3975C>A n.3867C>A c.20319C>A (p.Ser6773Arg) c.20307C>A (p.Ser6769Arg) c.20298C>A (p.Ser6766Arg) c.20268C>A (p.Ser6756Arg) c.20304C>A (p.Ser6768Arg) c.20247C>A (p.Ser6749Arg) c.20178C>A (p.Ser6726Arg) c.20166C>A (p.Ser6722Arg) c.20163C>A (p.Ser6721Arg) c.20160C>A (p.Ser6720Arg) c.20316C>A (p.Ser6772Arg) c.20154C>A (p.Ser6718Arg) c.18594C>A (p.Ser6198Arg) c.18087C>A (p.Ser6029Arg) c.13554C>A (p.Ser4518Arg) c.20292C>A (p.Ser6764Arg) c.20241C>A (p.Ser6747Arg) | |
| 6 | g.152236221C>A | CA366122322 | SYNE1 | c.20282G>T (p.Ser6761Ile) c.20069G>T (p.Ser6690Ile) c.19067G>T (p.Ser6356Ile) n.3974G>T n.3866G>T c.20318G>T (p.Ser6773Ile) c.20306G>T (p.Ser6769Ile) c.20297G>T (p.Ser6766Ile) c.20267G>T (p.Ser6756Ile) c.20303G>T (p.Ser6768Ile) c.20246G>T (p.Ser6749Ile) c.20177G>T (p.Ser6726Ile) c.20165G>T (p.Ser6722Ile) c.20162G>T (p.Ser6721Ile) c.20159G>T (p.Ser6720Ile) c.20315G>T (p.Ser6772Ile) c.20153G>T (p.Ser6718Ile) c.18593G>T (p.Ser6198Ile) c.18086G>T (p.Ser6029Ile) c.13553G>T (p.Ser4518Ile) c.20291G>T (p.Ser6764Ile) c.20240G>T (p.Ser6747Ile) | |
| 6 | g.152236221C>G | CA366122325 | SYNE1 | c.20282G>C (p.Ser6761Thr) c.20069G>C (p.Ser6690Thr) c.19067G>C (p.Ser6356Thr) n.3974G>C n.3866G>C c.20318G>C (p.Ser6773Thr) c.20306G>C (p.Ser6769Thr) c.20297G>C (p.Ser6766Thr) c.20267G>C (p.Ser6756Thr) c.20303G>C (p.Ser6768Thr) c.20246G>C (p.Ser6749Thr) c.20177G>C (p.Ser6726Thr) c.20165G>C (p.Ser6722Thr) c.20162G>C (p.Ser6721Thr) c.20159G>C (p.Ser6720Thr) c.20315G>C (p.Ser6772Thr) c.20153G>C (p.Ser6718Thr) c.18593G>C (p.Ser6198Thr) c.18086G>C (p.Ser6029Thr) c.13553G>C (p.Ser4518Thr) c.20291G>C (p.Ser6764Thr) c.20240G>C (p.Ser6747Thr) | |
| 6 | g.152236221C>T | CA366122326 | SYNE1 | c.20282G>A (p.Ser6761Asn) c.20069G>A (p.Ser6690Asn) c.19067G>A (p.Ser6356Asn) n.3974G>A n.3866G>A c.20318G>A (p.Ser6773Asn) c.20306G>A (p.Ser6769Asn) c.20297G>A (p.Ser6766Asn) c.20267G>A (p.Ser6756Asn) c.20303G>A (p.Ser6768Asn) c.20246G>A (p.Ser6749Asn) c.20177G>A (p.Ser6726Asn) c.20165G>A (p.Ser6722Asn) c.20162G>A (p.Ser6721Asn) c.20159G>A (p.Ser6720Asn) c.20315G>A (p.Ser6772Asn) c.20153G>A (p.Ser6718Asn) c.18593G>A (p.Ser6198Asn) c.18086G>A (p.Ser6029Asn) c.13553G>A (p.Ser4518Asn) c.20291G>A (p.Ser6764Asn) c.20240G>A (p.Ser6747Asn) | |
| 6 | g.152236222T>A | CA366122329 | SYNE1 | c.20281A>T (p.Ser6761Cys) c.20068A>T (p.Ser6690Cys) c.19066A>T (p.Ser6356Cys) n.3973A>T n.3865A>T c.20317A>T (p.Ser6773Cys) c.20305A>T (p.Ser6769Cys) c.20296A>T (p.Ser6766Cys) c.20266A>T (p.Ser6756Cys) c.20302A>T (p.Ser6768Cys) c.20245A>T (p.Ser6749Cys) c.20176A>T (p.Ser6726Cys) c.20164A>T (p.Ser6722Cys) c.20161A>T (p.Ser6721Cys) c.20158A>T (p.Ser6720Cys) c.20314A>T (p.Ser6772Cys) c.20152A>T (p.Ser6718Cys) c.18592A>T (p.Ser6198Cys) c.18085A>T (p.Ser6029Cys) c.13552A>T (p.Ser4518Cys) c.20290A>T (p.Ser6764Cys) c.20239A>T (p.Ser6747Cys) | |
| 6 | g.152236222T>C | CA366122332 | SYNE1 | c.20281A>G (p.Ser6761Gly) c.20068A>G (p.Ser6690Gly) c.19066A>G (p.Ser6356Gly) n.3973A>G n.3865A>G c.20317A>G (p.Ser6773Gly) c.20305A>G (p.Ser6769Gly) c.20296A>G (p.Ser6766Gly) c.20266A>G (p.Ser6756Gly) c.20302A>G (p.Ser6768Gly) c.20245A>G (p.Ser6749Gly) c.20176A>G (p.Ser6726Gly) c.20164A>G (p.Ser6722Gly) c.20161A>G (p.Ser6721Gly) c.20158A>G (p.Ser6720Gly) c.20314A>G (p.Ser6772Gly) c.20152A>G (p.Ser6718Gly) c.18592A>G (p.Ser6198Gly) c.18085A>G (p.Ser6029Gly) c.13552A>G (p.Ser4518Gly) c.20290A>G (p.Ser6764Gly) c.20239A>G (p.Ser6747Gly) | |
| 6 | g.152236222T>G | CA366122334 | SYNE1 | c.20281A>C (p.Ser6761Arg) c.20068A>C (p.Ser6690Arg) c.19066A>C (p.Ser6356Arg) n.3973A>C n.3865A>C c.20317A>C (p.Ser6773Arg) c.20305A>C (p.Ser6769Arg) c.20296A>C (p.Ser6766Arg) c.20266A>C (p.Ser6756Arg) c.20302A>C (p.Ser6768Arg) c.20245A>C (p.Ser6749Arg) c.20176A>C (p.Ser6726Arg) c.20164A>C (p.Ser6722Arg) c.20161A>C (p.Ser6721Arg) c.20158A>C (p.Ser6720Arg) c.20314A>C (p.Ser6772Arg) c.20152A>C (p.Ser6718Arg) c.18592A>C (p.Ser6198Arg) c.18085A>C (p.Ser6029Arg) c.13552A>C (p.Ser4518Arg) c.20290A>C (p.Ser6764Arg) c.20239A>C (p.Ser6747Arg) | |
| 6 | g.152236223G>A | CA452751944 | SYNE1 | c.20280C>T (p.Ile6760=) c.20067C>T (p.Ile6689=) c.19065C>T (p.Ile6355=) n.3972C>T n.3864C>T c.20316C>T (p.Ile6772=) c.20304C>T (p.Ile6768=) c.20295C>T (p.Ile6765=) c.20265C>T (p.Ile6755=) c.20301C>T (p.Ile6767=) c.20244C>T (p.Ile6748=) c.20175C>T (p.Ile6725=) c.20163C>T (p.Ile6721=) c.20160C>T (p.Ile6720=) c.20157C>T (p.Ile6719=) c.20313C>T (p.Ile6771=) c.20151C>T (p.Ile6717=) c.18591C>T (p.Ile6197=) c.18084C>T (p.Ile6028=) c.13551C>T (p.Ile4517=) c.20289C>T (p.Ile6763=) c.20238C>T (p.Ile6746=) | |
| 6 | g.152236223G>C | CA366122338 | SYNE1 | c.20280C>G (p.Ile6760Met) c.20067C>G (p.Ile6689Met) c.19065C>G (p.Ile6355Met) n.3972C>G n.3864C>G c.20316C>G (p.Ile6772Met) c.20304C>G (p.Ile6768Met) c.20295C>G (p.Ile6765Met) c.20265C>G (p.Ile6755Met) c.20301C>G (p.Ile6767Met) c.20244C>G (p.Ile6748Met) c.20175C>G (p.Ile6725Met) c.20163C>G (p.Ile6721Met) c.20160C>G (p.Ile6720Met) c.20157C>G (p.Ile6719Met) c.20313C>G (p.Ile6771Met) c.20151C>G (p.Ile6717Met) c.18591C>G (p.Ile6197Met) c.18084C>G (p.Ile6028Met) c.13551C>G (p.Ile4517Met) c.20289C>G (p.Ile6763Met) c.20238C>G (p.Ile6746Met) | |
| 6 | g.152236223G>T | CA452751945 | SYNE1 | c.20280C>A (p.Ile6760=) c.20067C>A (p.Ile6689=) c.19065C>A (p.Ile6355=) n.3972C>A n.3864C>A c.20316C>A (p.Ile6772=) c.20304C>A (p.Ile6768=) c.20295C>A (p.Ile6765=) c.20265C>A (p.Ile6755=) c.20301C>A (p.Ile6767=) c.20244C>A (p.Ile6748=) c.20175C>A (p.Ile6725=) c.20163C>A (p.Ile6721=) c.20160C>A (p.Ile6720=) c.20157C>A (p.Ile6719=) c.20313C>A (p.Ile6771=) c.20151C>A (p.Ile6717=) c.18591C>A (p.Ile6197=) c.18084C>A (p.Ile6028=) c.13551C>A (p.Ile4517=) c.20289C>A (p.Ile6763=) c.20238C>A (p.Ile6746=) | |
| 6 | g.152236224A>C | CA366122342 | SYNE1 | c.20279T>G (p.Ile6760Ser) c.20066T>G (p.Ile6689Ser) c.19064T>G (p.Ile6355Ser) n.3971T>G n.3863T>G c.20315T>G (p.Ile6772Ser) c.20303T>G (p.Ile6768Ser) c.20294T>G (p.Ile6765Ser) c.20264T>G (p.Ile6755Ser) c.20300T>G (p.Ile6767Ser) c.20243T>G (p.Ile6748Ser) c.20174T>G (p.Ile6725Ser) c.20162T>G (p.Ile6721Ser) c.20159T>G (p.Ile6720Ser) c.20156T>G (p.Ile6719Ser) c.20312T>G (p.Ile6771Ser) c.20150T>G (p.Ile6717Ser) c.18590T>G (p.Ile6197Ser) c.18083T>G (p.Ile6028Ser) c.13550T>G (p.Ile4517Ser) c.20288T>G (p.Ile6763Ser) c.20237T>G (p.Ile6746Ser) | |
| 6 | g.152236224A>G | CA366122345 | SYNE1 | c.20279T>C (p.Ile6760Thr) c.20066T>C (p.Ile6689Thr) c.19064T>C (p.Ile6355Thr) n.3971T>C n.3863T>C c.20315T>C (p.Ile6772Thr) c.20303T>C (p.Ile6768Thr) c.20294T>C (p.Ile6765Thr) c.20264T>C (p.Ile6755Thr) c.20300T>C (p.Ile6767Thr) c.20243T>C (p.Ile6748Thr) c.20174T>C (p.Ile6725Thr) c.20162T>C (p.Ile6721Thr) c.20159T>C (p.Ile6720Thr) c.20156T>C (p.Ile6719Thr) c.20312T>C (p.Ile6771Thr) c.20150T>C (p.Ile6717Thr) c.18590T>C (p.Ile6197Thr) c.18083T>C (p.Ile6028Thr) c.13550T>C (p.Ile4517Thr) c.20288T>C (p.Ile6763Thr) c.20237T>C (p.Ile6746Thr) | |
| 6 | g.152236224A>T | CA366122346 | SYNE1 | c.20279T>A (p.Ile6760Asn) c.20066T>A (p.Ile6689Asn) c.19064T>A (p.Ile6355Asn) n.3971T>A n.3863T>A c.20315T>A (p.Ile6772Asn) c.20303T>A (p.Ile6768Asn) c.20294T>A (p.Ile6765Asn) c.20264T>A (p.Ile6755Asn) c.20300T>A (p.Ile6767Asn) c.20243T>A (p.Ile6748Asn) c.20174T>A (p.Ile6725Asn) c.20162T>A (p.Ile6721Asn) c.20159T>A (p.Ile6720Asn) c.20156T>A (p.Ile6719Asn) c.20312T>A (p.Ile6771Asn) c.20150T>A (p.Ile6717Asn) c.18590T>A (p.Ile6197Asn) c.18083T>A (p.Ile6028Asn) c.13550T>A (p.Ile4517Asn) c.20288T>A (p.Ile6763Asn) c.20237T>A (p.Ile6746Asn) | |
| 6 | g.152236225T>A | CA366122354 | SYNE1 | c.20278A>T (p.Ile6760Phe) c.20065A>T (p.Ile6689Phe) c.19063A>T (p.Ile6355Phe) n.3970A>T n.3862A>T c.20314A>T (p.Ile6772Phe) c.20302A>T (p.Ile6768Phe) c.20293A>T (p.Ile6765Phe) c.20263A>T (p.Ile6755Phe) c.20299A>T (p.Ile6767Phe) c.20242A>T (p.Ile6748Phe) c.20173A>T (p.Ile6725Phe) c.20161A>T (p.Ile6721Phe) c.20158A>T (p.Ile6720Phe) c.20155A>T (p.Ile6719Phe) c.20311A>T (p.Ile6771Phe) c.20149A>T (p.Ile6717Phe) c.18589A>T (p.Ile6197Phe) c.18082A>T (p.Ile6028Phe) c.13549A>T (p.Ile4517Phe) c.20287A>T (p.Ile6763Phe) c.20236A>T (p.Ile6746Phe) | |
| 6 | g.152236225T>C | CA150193181 | SYNE1 | c.20278A>G (p.Ile6760Val) c.20065A>G (p.Ile6689Val) c.19063A>G (p.Ile6355Val) n.3970A>G n.3862A>G c.20314A>G (p.Ile6772Val) c.20302A>G (p.Ile6768Val) c.20293A>G (p.Ile6765Val) c.20263A>G (p.Ile6755Val) c.20299A>G (p.Ile6767Val) c.20242A>G (p.Ile6748Val) c.20173A>G (p.Ile6725Val) c.20161A>G (p.Ile6721Val) c.20158A>G (p.Ile6720Val) c.20155A>G (p.Ile6719Val) c.20311A>G (p.Ile6771Val) c.20149A>G (p.Ile6717Val) c.18589A>G (p.Ile6197Val) c.18082A>G (p.Ile6028Val) c.13549A>G (p.Ile4517Val) c.20287A>G (p.Ile6763Val) c.20236A>G (p.Ile6746Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152236225T>G | CA366122364 | SYNE1 | c.20278A>C (p.Ile6760Leu) c.20065A>C (p.Ile6689Leu) c.19063A>C (p.Ile6355Leu) n.3970A>C n.3862A>C c.20314A>C (p.Ile6772Leu) c.20302A>C (p.Ile6768Leu) c.20293A>C (p.Ile6765Leu) c.20263A>C (p.Ile6755Leu) c.20299A>C (p.Ile6767Leu) c.20242A>C (p.Ile6748Leu) c.20173A>C (p.Ile6725Leu) c.20161A>C (p.Ile6721Leu) c.20158A>C (p.Ile6720Leu) c.20155A>C (p.Ile6719Leu) c.20311A>C (p.Ile6771Leu) c.20149A>C (p.Ile6717Leu) c.18589A>C (p.Ile6197Leu) c.18082A>C (p.Ile6028Leu) c.13549A>C (p.Ile4517Leu) c.20287A>C (p.Ile6763Leu) c.20236A>C (p.Ile6746Leu) | |
| 6 | g.152236225T= | CA1673235280 | SYNE1 | c.20278A= (p.Ile6760=) c.20065A= (p.Ile6689=) c.19063A= (p.Ile6355=) n.3970A= n.3862A= c.20314A= (p.Ile6772=) c.20302A= (p.Ile6768=) c.20293A= (p.Ile6765=) c.20263A= (p.Ile6755=) c.20299A= (p.Ile6767=) c.20242A= (p.Ile6748=) c.20173A= (p.Ile6725=) c.20161A= (p.Ile6721=) c.20158A= (p.Ile6720=) c.20155A= (p.Ile6719=) c.20311A= (p.Ile6771=) c.20149A= (p.Ile6717=) c.18589A= (p.Ile6197=) c.18082A= (p.Ile6028=) c.13549A= (p.Ile4517=) c.20287A= (p.Ile6763=) c.20236A= (p.Ile6746=) |