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.152143633T>A | CA366082920 | SYNE1 | c.1643A>T (p.Tyr548Phe) c.25109A>T (p.Tyr8370Phe) c.24965A>T (p.Tyr8322Phe) c.511A>T c.844A>T c.891-3472A>T c.881A>T (p.Tyr294Phe) c.23894A>T (p.Tyr7965Phe) n.1857A>T c.3944A>T (p.Tyr1315Phe) n.8801A>T c.3047A>T (p.Tyr1016Phe) n.8693A>T n.1723A>T n.4131A>T n.1946A>T c.1574A>T (p.Tyr525Phe) c.25214A>T (p.Tyr8405Phe) c.25202A>T (p.Tyr8401Phe) c.25193A>T (p.Tyr8398Phe) c.25163A>T (p.Tyr8388Phe) c.25199A>T (p.Tyr8400Phe) c.25145A>T (p.Tyr8382Phe) c.25142A>T (p.Tyr8381Phe) c.25130A>T (p.Tyr8377Phe) c.25073A>T (p.Tyr8358Phe) c.25061A>T (p.Tyr8354Phe) c.25058A>T (p.Tyr8353Phe) c.25055A>T (p.Tyr8352Phe) c.25211A>T (p.Tyr8404Phe) c.25049A>T (p.Tyr8350Phe) c.23489A>T (p.Tyr7830Phe) c.22982A>T (p.Tyr7661Phe) c.18449A>T (p.Tyr6150Phe) c.1715A>T (p.Tyr572Phe) c.25187A>T (p.Tyr8396Phe) c.25136A>T (p.Tyr8379Phe) c.24989A>T (p.Tyr8330Phe) | |
| 6 | g.152143633T>C | CA366082921 | SYNE1 | c.1643A>G (p.Tyr548Cys) c.25109A>G (p.Tyr8370Cys) c.24965A>G (p.Tyr8322Cys) c.511A>G c.844A>G c.891-3472A>G c.881A>G (p.Tyr294Cys) c.23894A>G (p.Tyr7965Cys) n.1857A>G c.3944A>G (p.Tyr1315Cys) n.8801A>G c.3047A>G (p.Tyr1016Cys) n.8693A>G n.1723A>G n.4131A>G n.1946A>G c.1574A>G (p.Tyr525Cys) c.25214A>G (p.Tyr8405Cys) c.25202A>G (p.Tyr8401Cys) c.25193A>G (p.Tyr8398Cys) c.25163A>G (p.Tyr8388Cys) c.25199A>G (p.Tyr8400Cys) c.25145A>G (p.Tyr8382Cys) c.25142A>G (p.Tyr8381Cys) c.25130A>G (p.Tyr8377Cys) c.25073A>G (p.Tyr8358Cys) c.25061A>G (p.Tyr8354Cys) c.25058A>G (p.Tyr8353Cys) c.25055A>G (p.Tyr8352Cys) c.25211A>G (p.Tyr8404Cys) c.25049A>G (p.Tyr8350Cys) c.23489A>G (p.Tyr7830Cys) c.22982A>G (p.Tyr7661Cys) c.18449A>G (p.Tyr6150Cys) c.1715A>G (p.Tyr572Cys) c.25187A>G (p.Tyr8396Cys) c.25136A>G (p.Tyr8379Cys) c.24989A>G (p.Tyr8330Cys) | dbSNP |
| 6 | g.152143633T>G | CA366082923 | SYNE1 | c.1643A>C (p.Tyr548Ser) c.25109A>C (p.Tyr8370Ser) c.24965A>C (p.Tyr8322Ser) c.511A>C c.844A>C c.891-3472A>C c.881A>C (p.Tyr294Ser) c.23894A>C (p.Tyr7965Ser) n.1857A>C c.3944A>C (p.Tyr1315Ser) n.8801A>C c.3047A>C (p.Tyr1016Ser) n.8693A>C n.1723A>C n.4131A>C n.1946A>C c.1574A>C (p.Tyr525Ser) c.25214A>C (p.Tyr8405Ser) c.25202A>C (p.Tyr8401Ser) c.25193A>C (p.Tyr8398Ser) c.25163A>C (p.Tyr8388Ser) c.25199A>C (p.Tyr8400Ser) c.25145A>C (p.Tyr8382Ser) c.25142A>C (p.Tyr8381Ser) c.25130A>C (p.Tyr8377Ser) c.25073A>C (p.Tyr8358Ser) c.25061A>C (p.Tyr8354Ser) c.25058A>C (p.Tyr8353Ser) c.25055A>C (p.Tyr8352Ser) c.25211A>C (p.Tyr8404Ser) c.25049A>C (p.Tyr8350Ser) c.23489A>C (p.Tyr7830Ser) c.22982A>C (p.Tyr7661Ser) c.18449A>C (p.Tyr6150Ser) c.1715A>C (p.Tyr572Ser) c.25187A>C (p.Tyr8396Ser) c.25136A>C (p.Tyr8379Ser) c.24989A>C (p.Tyr8330Ser) | |
| 6 | g.152143633T= | CA1673209258 | SYNE1 | c.1643A= (p.Tyr548=) c.25109A= (p.Tyr8370=) c.24965A= (p.Tyr8322=) c.511A= c.844A= c.891-3472A= c.881A= (p.Tyr294=) c.23894A= (p.Tyr7965=) n.1857A= c.3944A= (p.Tyr1315=) n.8801A= c.3047A= (p.Tyr1016=) n.8693A= n.1723A= n.4131A= n.1946A= c.1574A= (p.Tyr525=) c.25214A= (p.Tyr8405=) c.25202A= (p.Tyr8401=) c.25193A= (p.Tyr8398=) c.25163A= (p.Tyr8388=) c.25199A= (p.Tyr8400=) c.25145A= (p.Tyr8382=) c.25142A= (p.Tyr8381=) c.25130A= (p.Tyr8377=) c.25073A= (p.Tyr8358=) c.25061A= (p.Tyr8354=) c.25058A= (p.Tyr8353=) c.25055A= (p.Tyr8352=) c.25211A= (p.Tyr8404=) c.25049A= (p.Tyr8350=) c.23489A= (p.Tyr7830=) c.22982A= (p.Tyr7661=) c.18449A= (p.Tyr6150=) c.1715A= (p.Tyr572=) c.25187A= (p.Tyr8396=) c.25136A= (p.Tyr8379=) c.24989A= (p.Tyr8330=) | |
| 6 | g.152143634A>C | CA366082924 | SYNE1 | c.1642T>G (p.Tyr548Asp) c.25108T>G (p.Tyr8370Asp) c.24964T>G (p.Tyr8322Asp) c.510T>G c.843T>G c.891-3473T>G c.880T>G (p.Tyr294Asp) c.23893T>G (p.Tyr7965Asp) n.1856T>G c.3943T>G (p.Tyr1315Asp) n.8800T>G c.3046T>G (p.Tyr1016Asp) n.8692T>G n.1722T>G n.4130T>G n.1945T>G c.1573T>G (p.Tyr525Asp) c.25213T>G (p.Tyr8405Asp) c.25201T>G (p.Tyr8401Asp) c.25192T>G (p.Tyr8398Asp) c.25162T>G (p.Tyr8388Asp) c.25198T>G (p.Tyr8400Asp) c.25144T>G (p.Tyr8382Asp) c.25141T>G (p.Tyr8381Asp) c.25129T>G (p.Tyr8377Asp) c.25072T>G (p.Tyr8358Asp) c.25060T>G (p.Tyr8354Asp) c.25057T>G (p.Tyr8353Asp) c.25054T>G (p.Tyr8352Asp) c.25210T>G (p.Tyr8404Asp) c.25048T>G (p.Tyr8350Asp) c.23488T>G (p.Tyr7830Asp) c.22981T>G (p.Tyr7661Asp) c.18448T>G (p.Tyr6150Asp) c.1714T>G (p.Tyr572Asp) c.25186T>G (p.Tyr8396Asp) c.25135T>G (p.Tyr8379Asp) c.24988T>G (p.Tyr8330Asp) | |
| 6 | g.152143634A>G | CA366082926 | SYNE1 | c.1642T>C (p.Tyr548His) c.25108T>C (p.Tyr8370His) c.24964T>C (p.Tyr8322His) c.510T>C c.843T>C c.891-3473T>C c.880T>C (p.Tyr294His) c.23893T>C (p.Tyr7965His) n.1856T>C c.3943T>C (p.Tyr1315His) n.8800T>C c.3046T>C (p.Tyr1016His) n.8692T>C n.1722T>C n.4130T>C n.1945T>C c.1573T>C (p.Tyr525His) c.25213T>C (p.Tyr8405His) c.25201T>C (p.Tyr8401His) c.25192T>C (p.Tyr8398His) c.25162T>C (p.Tyr8388His) c.25198T>C (p.Tyr8400His) c.25144T>C (p.Tyr8382His) c.25141T>C (p.Tyr8381His) c.25129T>C (p.Tyr8377His) c.25072T>C (p.Tyr8358His) c.25060T>C (p.Tyr8354His) c.25057T>C (p.Tyr8353His) c.25054T>C (p.Tyr8352His) c.25210T>C (p.Tyr8404His) c.25048T>C (p.Tyr8350His) c.23488T>C (p.Tyr7830His) c.22981T>C (p.Tyr7661His) c.18448T>C (p.Tyr6150His) c.1714T>C (p.Tyr572His) c.25186T>C (p.Tyr8396His) c.25135T>C (p.Tyr8379His) c.24988T>C (p.Tyr8330His) | |
| 6 | g.152143634A>T | CA366082928 | SYNE1 | c.1642T>A (p.Tyr548Asn) c.25108T>A (p.Tyr8370Asn) c.24964T>A (p.Tyr8322Asn) c.510T>A c.843T>A c.891-3473T>A c.880T>A (p.Tyr294Asn) c.23893T>A (p.Tyr7965Asn) n.1856T>A c.3943T>A (p.Tyr1315Asn) n.8800T>A c.3046T>A (p.Tyr1016Asn) n.8692T>A n.1722T>A n.4130T>A n.1945T>A c.1573T>A (p.Tyr525Asn) c.25213T>A (p.Tyr8405Asn) c.25201T>A (p.Tyr8401Asn) c.25192T>A (p.Tyr8398Asn) c.25162T>A (p.Tyr8388Asn) c.25198T>A (p.Tyr8400Asn) c.25144T>A (p.Tyr8382Asn) c.25141T>A (p.Tyr8381Asn) c.25129T>A (p.Tyr8377Asn) c.25072T>A (p.Tyr8358Asn) c.25060T>A (p.Tyr8354Asn) c.25057T>A (p.Tyr8353Asn) c.25054T>A (p.Tyr8352Asn) c.25210T>A (p.Tyr8404Asn) c.25048T>A (p.Tyr8350Asn) c.23488T>A (p.Tyr7830Asn) c.22981T>A (p.Tyr7661Asn) c.18448T>A (p.Tyr6150Asn) c.1714T>A (p.Tyr572Asn) c.25186T>A (p.Tyr8396Asn) c.25135T>A (p.Tyr8379Asn) c.24988T>A (p.Tyr8330Asn) | |
| 6 | g.152143635G>A | CA452747203 | SYNE1 | c.1641C>T (p.Ser547=) c.25107C>T (p.Ser8369=) c.24963C>T (p.Ser8321=) c.509C>T c.842C>T c.891-3474C>T c.879C>T (p.Ser293=) c.23892C>T (p.Ser7964=) n.1855C>T c.3942C>T (p.Ser1314=) n.8799C>T c.3045C>T (p.Ser1015=) n.8691C>T n.1721C>T n.4129C>T n.1944C>T c.1572C>T (p.Ser524=) c.25212C>T (p.Ser8404=) c.25200C>T (p.Ser8400=) c.25191C>T (p.Ser8397=) c.25161C>T (p.Ser8387=) c.25197C>T (p.Ser8399=) c.25143C>T (p.Ser8381=) c.25140C>T (p.Ser8380=) c.25128C>T (p.Ser8376=) c.25071C>T (p.Ser8357=) c.25059C>T (p.Ser8353=) c.25056C>T (p.Ser8352=) c.25053C>T (p.Ser8351=) c.25209C>T (p.Ser8403=) c.25047C>T (p.Ser8349=) c.23487C>T (p.Ser7829=) c.22980C>T (p.Ser7660=) c.18447C>T (p.Ser6149=) c.1713C>T (p.Ser571=) c.25185C>T (p.Ser8395=) c.25134C>T (p.Ser8378=) c.24987C>T (p.Ser8329=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152143635G>C | CA366082930 | SYNE1 | c.1641C>G (p.Ser547Arg) c.25107C>G (p.Ser8369Arg) c.24963C>G (p.Ser8321Arg) c.509C>G c.842C>G c.891-3474C>G c.879C>G (p.Ser293Arg) c.23892C>G (p.Ser7964Arg) n.1855C>G c.3942C>G (p.Ser1314Arg) n.8799C>G c.3045C>G (p.Ser1015Arg) n.8691C>G n.1721C>G n.4129C>G n.1944C>G c.1572C>G (p.Ser524Arg) c.25212C>G (p.Ser8404Arg) c.25200C>G (p.Ser8400Arg) c.25191C>G (p.Ser8397Arg) c.25161C>G (p.Ser8387Arg) c.25197C>G (p.Ser8399Arg) c.25143C>G (p.Ser8381Arg) c.25140C>G (p.Ser8380Arg) c.25128C>G (p.Ser8376Arg) c.25071C>G (p.Ser8357Arg) c.25059C>G (p.Ser8353Arg) c.25056C>G (p.Ser8352Arg) c.25053C>G (p.Ser8351Arg) c.25209C>G (p.Ser8403Arg) c.25047C>G (p.Ser8349Arg) c.23487C>G (p.Ser7829Arg) c.22980C>G (p.Ser7660Arg) c.18447C>G (p.Ser6149Arg) c.1713C>G (p.Ser571Arg) c.25185C>G (p.Ser8395Arg) c.25134C>G (p.Ser8378Arg) c.24987C>G (p.Ser8329Arg) | |
| 6 | g.152143635G= | CA1673209259 | SYNE1 | c.1641C= (p.Ser547=) c.25107C= (p.Ser8369=) c.24963C= (p.Ser8321=) c.509C= c.842C= c.891-3474C= c.879C= (p.Ser293=) c.23892C= (p.Ser7964=) n.1855C= c.3942C= (p.Ser1314=) n.8799C= c.3045C= (p.Ser1015=) n.8691C= n.1721C= n.4129C= n.1944C= c.1572C= (p.Ser524=) c.25212C= (p.Ser8404=) c.25200C= (p.Ser8400=) c.25191C= (p.Ser8397=) c.25161C= (p.Ser8387=) c.25197C= (p.Ser8399=) c.25143C= (p.Ser8381=) c.25140C= (p.Ser8380=) c.25128C= (p.Ser8376=) c.25071C= (p.Ser8357=) c.25059C= (p.Ser8353=) c.25056C= (p.Ser8352=) c.25053C= (p.Ser8351=) c.25209C= (p.Ser8403=) c.25047C= (p.Ser8349=) c.23487C= (p.Ser7829=) c.22980C= (p.Ser7660=) c.18447C= (p.Ser6149=) c.1713C= (p.Ser571=) c.25185C= (p.Ser8395=) c.25134C= (p.Ser8378=) c.24987C= (p.Ser8329=) | |
| 6 | g.152143635G>T | CA366082931 | SYNE1 | c.1641C>A (p.Ser547Arg) c.25107C>A (p.Ser8369Arg) c.24963C>A (p.Ser8321Arg) c.509C>A c.842C>A c.891-3474C>A c.879C>A (p.Ser293Arg) c.23892C>A (p.Ser7964Arg) n.1855C>A c.3942C>A (p.Ser1314Arg) n.8799C>A c.3045C>A (p.Ser1015Arg) n.8691C>A n.1721C>A n.4129C>A n.1944C>A c.1572C>A (p.Ser524Arg) c.25212C>A (p.Ser8404Arg) c.25200C>A (p.Ser8400Arg) c.25191C>A (p.Ser8397Arg) c.25161C>A (p.Ser8387Arg) c.25197C>A (p.Ser8399Arg) c.25143C>A (p.Ser8381Arg) c.25140C>A (p.Ser8380Arg) c.25128C>A (p.Ser8376Arg) c.25071C>A (p.Ser8357Arg) c.25059C>A (p.Ser8353Arg) c.25056C>A (p.Ser8352Arg) c.25053C>A (p.Ser8351Arg) c.25209C>A (p.Ser8403Arg) c.25047C>A (p.Ser8349Arg) c.23487C>A (p.Ser7829Arg) c.22980C>A (p.Ser7660Arg) c.18447C>A (p.Ser6149Arg) c.1713C>A (p.Ser571Arg) c.25185C>A (p.Ser8395Arg) c.25134C>A (p.Ser8378Arg) c.24987C>A (p.Ser8329Arg) | |
| 6 | g.152143636C>A | CA366082932 | SYNE1 | c.1640G>T (p.Ser547Ile) c.25106G>T (p.Ser8369Ile) c.24962G>T (p.Ser8321Ile) c.508G>T c.841G>T c.891-3475G>T c.878G>T (p.Ser293Ile) c.23891G>T (p.Ser7964Ile) n.1854G>T c.3941G>T (p.Ser1314Ile) n.8798G>T c.3044G>T (p.Ser1015Ile) n.8690G>T n.1720G>T n.4128G>T n.1943G>T c.1571G>T (p.Ser524Ile) c.25211G>T (p.Ser8404Ile) c.25199G>T (p.Ser8400Ile) c.25190G>T (p.Ser8397Ile) c.25160G>T (p.Ser8387Ile) c.25196G>T (p.Ser8399Ile) c.25142G>T (p.Ser8381Ile) c.25139G>T (p.Ser8380Ile) c.25127G>T (p.Ser8376Ile) c.25070G>T (p.Ser8357Ile) c.25058G>T (p.Ser8353Ile) c.25055G>T (p.Ser8352Ile) c.25052G>T (p.Ser8351Ile) c.25208G>T (p.Ser8403Ile) c.25046G>T (p.Ser8349Ile) c.23486G>T (p.Ser7829Ile) c.22979G>T (p.Ser7660Ile) c.18446G>T (p.Ser6149Ile) c.1712G>T (p.Ser571Ile) c.25184G>T (p.Ser8395Ile) c.25133G>T (p.Ser8378Ile) c.24986G>T (p.Ser8329Ile) | |
| 6 | g.152143636C= | CA1673209260 | SYNE1 | c.1640G= (p.Ser547=) c.25106G= (p.Ser8369=) c.24962G= (p.Ser8321=) c.508G= c.841G= c.891-3475G= c.878G= (p.Ser293=) c.23891G= (p.Ser7964=) n.1854G= c.3941G= (p.Ser1314=) n.8798G= c.3044G= (p.Ser1015=) n.8690G= n.1720G= n.4128G= n.1943G= c.1571G= (p.Ser524=) c.25211G= (p.Ser8404=) c.25199G= (p.Ser8400=) c.25190G= (p.Ser8397=) c.25160G= (p.Ser8387=) c.25196G= (p.Ser8399=) c.25142G= (p.Ser8381=) c.25139G= (p.Ser8380=) c.25127G= (p.Ser8376=) c.25070G= (p.Ser8357=) c.25058G= (p.Ser8353=) c.25055G= (p.Ser8352=) c.25052G= (p.Ser8351=) c.25208G= (p.Ser8403=) c.25046G= (p.Ser8349=) c.23486G= (p.Ser7829=) c.22979G= (p.Ser7660=) c.18446G= (p.Ser6149=) c.1712G= (p.Ser571=) c.25184G= (p.Ser8395=) c.25133G= (p.Ser8378=) c.24986G= (p.Ser8329=) | |
| 6 | g.152143636C>G | CA366082933 | SYNE1 | c.1640G>C (p.Ser547Thr) c.25106G>C (p.Ser8369Thr) c.24962G>C (p.Ser8321Thr) c.508G>C c.841G>C c.891-3475G>C c.878G>C (p.Ser293Thr) c.23891G>C (p.Ser7964Thr) n.1854G>C c.3941G>C (p.Ser1314Thr) n.8798G>C c.3044G>C (p.Ser1015Thr) n.8690G>C n.1720G>C n.4128G>C n.1943G>C c.1571G>C (p.Ser524Thr) c.25211G>C (p.Ser8404Thr) c.25199G>C (p.Ser8400Thr) c.25190G>C (p.Ser8397Thr) c.25160G>C (p.Ser8387Thr) c.25196G>C (p.Ser8399Thr) c.25142G>C (p.Ser8381Thr) c.25139G>C (p.Ser8380Thr) c.25127G>C (p.Ser8376Thr) c.25070G>C (p.Ser8357Thr) c.25058G>C (p.Ser8353Thr) c.25055G>C (p.Ser8352Thr) c.25052G>C (p.Ser8351Thr) c.25208G>C (p.Ser8403Thr) c.25046G>C (p.Ser8349Thr) c.23486G>C (p.Ser7829Thr) c.22979G>C (p.Ser7660Thr) c.18446G>C (p.Ser6149Thr) c.1712G>C (p.Ser571Thr) c.25184G>C (p.Ser8395Thr) c.25133G>C (p.Ser8378Thr) c.24986G>C (p.Ser8329Thr) | dbSNP gnomAD v4 |
| 6 | g.152143636C>T | CA366082935 | SYNE1 | c.1640G>A (p.Ser547Asn) c.25106G>A (p.Ser8369Asn) c.24962G>A (p.Ser8321Asn) c.508G>A c.841G>A c.891-3475G>A c.878G>A (p.Ser293Asn) c.23891G>A (p.Ser7964Asn) n.1854G>A c.3941G>A (p.Ser1314Asn) n.8798G>A c.3044G>A (p.Ser1015Asn) n.8690G>A n.1720G>A n.4128G>A n.1943G>A c.1571G>A (p.Ser524Asn) c.25211G>A (p.Ser8404Asn) c.25199G>A (p.Ser8400Asn) c.25190G>A (p.Ser8397Asn) c.25160G>A (p.Ser8387Asn) c.25196G>A (p.Ser8399Asn) c.25142G>A (p.Ser8381Asn) c.25139G>A (p.Ser8380Asn) c.25127G>A (p.Ser8376Asn) c.25070G>A (p.Ser8357Asn) c.25058G>A (p.Ser8353Asn) c.25055G>A (p.Ser8352Asn) c.25052G>A (p.Ser8351Asn) c.25208G>A (p.Ser8403Asn) c.25046G>A (p.Ser8349Asn) c.23486G>A (p.Ser7829Asn) c.22979G>A (p.Ser7660Asn) c.18446G>A (p.Ser6149Asn) c.1712G>A (p.Ser571Asn) c.25184G>A (p.Ser8395Asn) c.25133G>A (p.Ser8378Asn) c.24986G>A (p.Ser8329Asn) | |
| 6 | g.152143637T>A | CA366082937 | SYNE1 | c.1639A>T (p.Ser547Cys) c.25105A>T (p.Ser8369Cys) c.24961A>T (p.Ser8321Cys) c.507A>T c.840A>T c.891-3476A>T c.877A>T (p.Ser293Cys) c.23890A>T (p.Ser7964Cys) n.1853A>T c.3940A>T (p.Ser1314Cys) n.8797A>T c.3043A>T (p.Ser1015Cys) n.8689A>T n.1719A>T n.4127A>T n.1942A>T c.1570A>T (p.Ser524Cys) c.25210A>T (p.Ser8404Cys) c.25198A>T (p.Ser8400Cys) c.25189A>T (p.Ser8397Cys) c.25159A>T (p.Ser8387Cys) c.25195A>T (p.Ser8399Cys) c.25141A>T (p.Ser8381Cys) c.25138A>T (p.Ser8380Cys) c.25126A>T (p.Ser8376Cys) c.25069A>T (p.Ser8357Cys) c.25057A>T (p.Ser8353Cys) c.25054A>T (p.Ser8352Cys) c.25051A>T (p.Ser8351Cys) c.25207A>T (p.Ser8403Cys) c.25045A>T (p.Ser8349Cys) c.23485A>T (p.Ser7829Cys) c.22978A>T (p.Ser7660Cys) c.18445A>T (p.Ser6149Cys) c.1711A>T (p.Ser571Cys) c.25183A>T (p.Ser8395Cys) c.25132A>T (p.Ser8378Cys) c.24985A>T (p.Ser8329Cys) | |
| 6 | g.152143637T>C | CA366082938 | SYNE1 | c.1639A>G (p.Ser547Gly) c.25105A>G (p.Ser8369Gly) c.24961A>G (p.Ser8321Gly) c.507A>G c.840A>G c.891-3476A>G c.877A>G (p.Ser293Gly) c.23890A>G (p.Ser7964Gly) n.1853A>G c.3940A>G (p.Ser1314Gly) n.8797A>G c.3043A>G (p.Ser1015Gly) n.8689A>G n.1719A>G n.4127A>G n.1942A>G c.1570A>G (p.Ser524Gly) c.25210A>G (p.Ser8404Gly) c.25198A>G (p.Ser8400Gly) c.25189A>G (p.Ser8397Gly) c.25159A>G (p.Ser8387Gly) c.25195A>G (p.Ser8399Gly) c.25141A>G (p.Ser8381Gly) c.25138A>G (p.Ser8380Gly) c.25126A>G (p.Ser8376Gly) c.25069A>G (p.Ser8357Gly) c.25057A>G (p.Ser8353Gly) c.25054A>G (p.Ser8352Gly) c.25051A>G (p.Ser8351Gly) c.25207A>G (p.Ser8403Gly) c.25045A>G (p.Ser8349Gly) c.23485A>G (p.Ser7829Gly) c.22978A>G (p.Ser7660Gly) c.18445A>G (p.Ser6149Gly) c.1711A>G (p.Ser571Gly) c.25183A>G (p.Ser8395Gly) c.25132A>G (p.Ser8378Gly) c.24985A>G (p.Ser8329Gly) | |
| 6 | g.152143637T>G | CA366082939 | SYNE1 | c.1639A>C (p.Ser547Arg) c.25105A>C (p.Ser8369Arg) c.24961A>C (p.Ser8321Arg) c.507A>C c.840A>C c.891-3476A>C c.877A>C (p.Ser293Arg) c.23890A>C (p.Ser7964Arg) n.1853A>C c.3940A>C (p.Ser1314Arg) n.8797A>C c.3043A>C (p.Ser1015Arg) n.8689A>C n.1719A>C n.4127A>C n.1942A>C c.1570A>C (p.Ser524Arg) c.25210A>C (p.Ser8404Arg) c.25198A>C (p.Ser8400Arg) c.25189A>C (p.Ser8397Arg) c.25159A>C (p.Ser8387Arg) c.25195A>C (p.Ser8399Arg) c.25141A>C (p.Ser8381Arg) c.25138A>C (p.Ser8380Arg) c.25126A>C (p.Ser8376Arg) c.25069A>C (p.Ser8357Arg) c.25057A>C (p.Ser8353Arg) c.25054A>C (p.Ser8352Arg) c.25051A>C (p.Ser8351Arg) c.25207A>C (p.Ser8403Arg) c.25045A>C (p.Ser8349Arg) c.23485A>C (p.Ser7829Arg) c.22978A>C (p.Ser7660Arg) c.18445A>C (p.Ser6149Arg) c.1711A>C (p.Ser571Arg) c.25183A>C (p.Ser8395Arg) c.25132A>C (p.Ser8378Arg) c.24985A>C (p.Ser8329Arg) | |
| 6 | g.152143638G>A | CA4052952 | SYNE1 | c.1638C>T (p.Thr546=) c.25104C>T (p.Thr8368=) c.24960C>T (p.Thr8320=) c.506C>T c.839C>T c.891-3477C>T c.876C>T (p.Thr292=) c.23889C>T (p.Thr7963=) n.1852C>T c.3939C>T (p.Thr1313=) n.8796C>T c.3042C>T (p.Thr1014=) n.8688C>T n.1718C>T n.4126C>T n.1941C>T c.1569C>T (p.Thr523=) c.25209C>T (p.Thr8403=) c.25197C>T (p.Thr8399=) c.25188C>T (p.Thr8396=) c.25158C>T (p.Thr8386=) c.25194C>T (p.Thr8398=) c.25140C>T (p.Thr8380=) c.25137C>T (p.Thr8379=) c.25125C>T (p.Thr8375=) c.25068C>T (p.Thr8356=) c.25056C>T (p.Thr8352=) c.25053C>T (p.Thr8351=) c.25050C>T (p.Thr8350=) c.25206C>T (p.Thr8402=) c.25044C>T (p.Thr8348=) c.23484C>T (p.Thr7828=) c.22977C>T (p.Thr7659=) c.18444C>T (p.Thr6148=) c.1710C>T (p.Thr570=) c.25182C>T (p.Thr8394=) c.25131C>T (p.Thr8377=) c.24984C>T (p.Thr8328=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152143638G>C | CA452747204 | SYNE1 | c.1638C>G (p.Thr546=) c.25104C>G (p.Thr8368=) c.24960C>G (p.Thr8320=) c.506C>G c.839C>G c.891-3477C>G c.876C>G (p.Thr292=) c.23889C>G (p.Thr7963=) n.1852C>G c.3939C>G (p.Thr1313=) n.8796C>G c.3042C>G (p.Thr1014=) n.8688C>G n.1718C>G n.4126C>G n.1941C>G c.1569C>G (p.Thr523=) c.25209C>G (p.Thr8403=) c.25197C>G (p.Thr8399=) c.25188C>G (p.Thr8396=) c.25158C>G (p.Thr8386=) c.25194C>G (p.Thr8398=) c.25140C>G (p.Thr8380=) c.25137C>G (p.Thr8379=) c.25125C>G (p.Thr8375=) c.25068C>G (p.Thr8356=) c.25056C>G (p.Thr8352=) c.25053C>G (p.Thr8351=) c.25050C>G (p.Thr8350=) c.25206C>G (p.Thr8402=) c.25044C>G (p.Thr8348=) c.23484C>G (p.Thr7828=) c.22977C>G (p.Thr7659=) c.18444C>G (p.Thr6148=) c.1710C>G (p.Thr570=) c.25182C>G (p.Thr8394=) c.25131C>G (p.Thr8377=) c.24984C>G (p.Thr8328=) | |
| 6 | g.152143638G= | CA1673209261 | SYNE1 | c.1638C= (p.Thr546=) c.25104C= (p.Thr8368=) c.24960C= (p.Thr8320=) c.506C= c.839C= c.891-3477C= c.876C= (p.Thr292=) c.23889C= (p.Thr7963=) n.1852C= c.3939C= (p.Thr1313=) n.8796C= c.3042C= (p.Thr1014=) n.8688C= n.1718C= n.4126C= n.1941C= c.1569C= (p.Thr523=) c.25209C= (p.Thr8403=) c.25197C= (p.Thr8399=) c.25188C= (p.Thr8396=) c.25158C= (p.Thr8386=) c.25194C= (p.Thr8398=) c.25140C= (p.Thr8380=) c.25137C= (p.Thr8379=) c.25125C= (p.Thr8375=) c.25068C= (p.Thr8356=) c.25056C= (p.Thr8352=) c.25053C= (p.Thr8351=) c.25050C= (p.Thr8350=) c.25206C= (p.Thr8402=) c.25044C= (p.Thr8348=) c.23484C= (p.Thr7828=) c.22977C= (p.Thr7659=) c.18444C= (p.Thr6148=) c.1710C= (p.Thr570=) c.25182C= (p.Thr8394=) c.25131C= (p.Thr8377=) c.24984C= (p.Thr8328=) | |
| 6 | g.152143638G>T | CA452747205 | SYNE1 | c.1638C>A (p.Thr546=) c.25104C>A (p.Thr8368=) c.24960C>A (p.Thr8320=) c.506C>A c.839C>A c.891-3477C>A c.876C>A (p.Thr292=) c.23889C>A (p.Thr7963=) n.1852C>A c.3939C>A (p.Thr1313=) n.8796C>A c.3042C>A (p.Thr1014=) n.8688C>A n.1718C>A n.4126C>A n.1941C>A c.1569C>A (p.Thr523=) c.25209C>A (p.Thr8403=) c.25197C>A (p.Thr8399=) c.25188C>A (p.Thr8396=) c.25158C>A (p.Thr8386=) c.25194C>A (p.Thr8398=) c.25140C>A (p.Thr8380=) c.25137C>A (p.Thr8379=) c.25125C>A (p.Thr8375=) c.25068C>A (p.Thr8356=) c.25056C>A (p.Thr8352=) c.25053C>A (p.Thr8351=) c.25050C>A (p.Thr8350=) c.25206C>A (p.Thr8402=) c.25044C>A (p.Thr8348=) c.23484C>A (p.Thr7828=) c.22977C>A (p.Thr7659=) c.18444C>A (p.Thr6148=) c.1710C>A (p.Thr570=) c.25182C>A (p.Thr8394=) c.25131C>A (p.Thr8377=) c.24984C>A (p.Thr8328=) | |
| 6 | g.152143639G>A | CA4052953 | SYNE1 | c.1637C>T (p.Thr546Ile) c.25103C>T (p.Thr8368Ile) c.24959C>T (p.Thr8320Ile) c.505C>T c.838C>T c.891-3478C>T c.875C>T (p.Thr292Ile) c.23888C>T (p.Thr7963Ile) n.1851C>T c.3938C>T (p.Thr1313Ile) n.8795C>T c.3041C>T (p.Thr1014Ile) n.8687C>T n.1717C>T n.4125C>T n.1940C>T c.1568C>T (p.Thr523Ile) c.25208C>T (p.Thr8403Ile) c.25196C>T (p.Thr8399Ile) c.25187C>T (p.Thr8396Ile) c.25157C>T (p.Thr8386Ile) c.25193C>T (p.Thr8398Ile) c.25139C>T (p.Thr8380Ile) c.25136C>T (p.Thr8379Ile) c.25124C>T (p.Thr8375Ile) c.25067C>T (p.Thr8356Ile) c.25055C>T (p.Thr8352Ile) c.25052C>T (p.Thr8351Ile) c.25049C>T (p.Thr8350Ile) c.25205C>T (p.Thr8402Ile) c.25043C>T (p.Thr8348Ile) c.23483C>T (p.Thr7828Ile) c.22976C>T (p.Thr7659Ile) c.18443C>T (p.Thr6148Ile) c.1709C>T (p.Thr570Ile) c.25181C>T (p.Thr8394Ile) c.25130C>T (p.Thr8377Ile) c.24983C>T (p.Thr8328Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152143639G>C | CA366082942 | SYNE1 | c.1637C>G (p.Thr546Ser) c.25103C>G (p.Thr8368Ser) c.24959C>G (p.Thr8320Ser) c.505C>G c.838C>G c.891-3478C>G c.875C>G (p.Thr292Ser) c.23888C>G (p.Thr7963Ser) n.1851C>G c.3938C>G (p.Thr1313Ser) n.8795C>G c.3041C>G (p.Thr1014Ser) n.8687C>G n.1717C>G n.4125C>G n.1940C>G c.1568C>G (p.Thr523Ser) c.25208C>G (p.Thr8403Ser) c.25196C>G (p.Thr8399Ser) c.25187C>G (p.Thr8396Ser) c.25157C>G (p.Thr8386Ser) c.25193C>G (p.Thr8398Ser) c.25139C>G (p.Thr8380Ser) c.25136C>G (p.Thr8379Ser) c.25124C>G (p.Thr8375Ser) c.25067C>G (p.Thr8356Ser) c.25055C>G (p.Thr8352Ser) c.25052C>G (p.Thr8351Ser) c.25049C>G (p.Thr8350Ser) c.25205C>G (p.Thr8402Ser) c.25043C>G (p.Thr8348Ser) c.23483C>G (p.Thr7828Ser) c.22976C>G (p.Thr7659Ser) c.18443C>G (p.Thr6148Ser) c.1709C>G (p.Thr570Ser) c.25181C>G (p.Thr8394Ser) c.25130C>G (p.Thr8377Ser) c.24983C>G (p.Thr8328Ser) | |
| 6 | g.152143639G= | CA1673209262 | SYNE1 | c.1637C= (p.Thr546=) c.25103C= (p.Thr8368=) c.24959C= (p.Thr8320=) c.505C= c.838C= c.891-3478C= c.875C= (p.Thr292=) c.23888C= (p.Thr7963=) n.1851C= c.3938C= (p.Thr1313=) n.8795C= c.3041C= (p.Thr1014=) n.8687C= n.1717C= n.4125C= n.1940C= c.1568C= (p.Thr523=) c.25208C= (p.Thr8403=) c.25196C= (p.Thr8399=) c.25187C= (p.Thr8396=) c.25157C= (p.Thr8386=) c.25193C= (p.Thr8398=) c.25139C= (p.Thr8380=) c.25136C= (p.Thr8379=) c.25124C= (p.Thr8375=) c.25067C= (p.Thr8356=) c.25055C= (p.Thr8352=) c.25052C= (p.Thr8351=) c.25049C= (p.Thr8350=) c.25205C= (p.Thr8402=) c.25043C= (p.Thr8348=) c.23483C= (p.Thr7828=) c.22976C= (p.Thr7659=) c.18443C= (p.Thr6148=) c.1709C= (p.Thr570=) c.25181C= (p.Thr8394=) c.25130C= (p.Thr8377=) c.24983C= (p.Thr8328=) | |
| 6 | g.152143639G>T | CA366082944 | SYNE1 | c.1637C>A (p.Thr546Asn) c.25103C>A (p.Thr8368Asn) c.24959C>A (p.Thr8320Asn) c.505C>A c.838C>A c.891-3478C>A c.875C>A (p.Thr292Asn) c.23888C>A (p.Thr7963Asn) n.1851C>A c.3938C>A (p.Thr1313Asn) n.8795C>A c.3041C>A (p.Thr1014Asn) n.8687C>A n.1717C>A n.4125C>A n.1940C>A c.1568C>A (p.Thr523Asn) c.25208C>A (p.Thr8403Asn) c.25196C>A (p.Thr8399Asn) c.25187C>A (p.Thr8396Asn) c.25157C>A (p.Thr8386Asn) c.25193C>A (p.Thr8398Asn) c.25139C>A (p.Thr8380Asn) c.25136C>A (p.Thr8379Asn) c.25124C>A (p.Thr8375Asn) c.25067C>A (p.Thr8356Asn) c.25055C>A (p.Thr8352Asn) c.25052C>A (p.Thr8351Asn) c.25049C>A (p.Thr8350Asn) c.25205C>A (p.Thr8402Asn) c.25043C>A (p.Thr8348Asn) c.23483C>A (p.Thr7828Asn) c.22976C>A (p.Thr7659Asn) c.18443C>A (p.Thr6148Asn) c.1709C>A (p.Thr570Asn) c.25181C>A (p.Thr8394Asn) c.25130C>A (p.Thr8377Asn) c.24983C>A (p.Thr8328Asn) | dbSNP gnomAD v4 |
| 6 | g.152143640T>A | CA366082946 | SYNE1 | c.1636A>T (p.Thr546Ser) c.25102A>T (p.Thr8368Ser) c.24958A>T (p.Thr8320Ser) c.504A>T c.837A>T c.891-3479A>T c.874A>T (p.Thr292Ser) c.23887A>T (p.Thr7963Ser) n.1850A>T c.3937A>T (p.Thr1313Ser) n.8794A>T c.3040A>T (p.Thr1014Ser) n.8686A>T n.1716A>T n.4124A>T n.1939A>T c.1567A>T (p.Thr523Ser) c.25207A>T (p.Thr8403Ser) c.25195A>T (p.Thr8399Ser) c.25186A>T (p.Thr8396Ser) c.25156A>T (p.Thr8386Ser) c.25192A>T (p.Thr8398Ser) c.25138A>T (p.Thr8380Ser) c.25135A>T (p.Thr8379Ser) c.25123A>T (p.Thr8375Ser) c.25066A>T (p.Thr8356Ser) c.25054A>T (p.Thr8352Ser) c.25051A>T (p.Thr8351Ser) c.25048A>T (p.Thr8350Ser) c.25204A>T (p.Thr8402Ser) c.25042A>T (p.Thr8348Ser) c.23482A>T (p.Thr7828Ser) c.22975A>T (p.Thr7659Ser) c.18442A>T (p.Thr6148Ser) c.1708A>T (p.Thr570Ser) c.25180A>T (p.Thr8394Ser) c.25129A>T (p.Thr8377Ser) c.24982A>T (p.Thr8328Ser) | |
| 6 | g.152143640T>C | CA4052954 | SYNE1 | c.1636A>G (p.Thr546Ala) c.25102A>G (p.Thr8368Ala) c.24958A>G (p.Thr8320Ala) c.504A>G c.837A>G c.891-3479A>G c.874A>G (p.Thr292Ala) c.23887A>G (p.Thr7963Ala) n.1850A>G c.3937A>G (p.Thr1313Ala) n.8794A>G c.3040A>G (p.Thr1014Ala) n.8686A>G n.1716A>G n.4124A>G n.1939A>G c.1567A>G (p.Thr523Ala) c.25207A>G (p.Thr8403Ala) c.25195A>G (p.Thr8399Ala) c.25186A>G (p.Thr8396Ala) c.25156A>G (p.Thr8386Ala) c.25192A>G (p.Thr8398Ala) c.25138A>G (p.Thr8380Ala) c.25135A>G (p.Thr8379Ala) c.25123A>G (p.Thr8375Ala) c.25066A>G (p.Thr8356Ala) c.25054A>G (p.Thr8352Ala) c.25051A>G (p.Thr8351Ala) c.25048A>G (p.Thr8350Ala) c.25204A>G (p.Thr8402Ala) c.25042A>G (p.Thr8348Ala) c.23482A>G (p.Thr7828Ala) c.22975A>G (p.Thr7659Ala) c.18442A>G (p.Thr6148Ala) c.1708A>G (p.Thr570Ala) c.25180A>G (p.Thr8394Ala) c.25129A>G (p.Thr8377Ala) c.24982A>G (p.Thr8328Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152143640T>G | CA366082948 | SYNE1 | c.1636A>C (p.Thr546Pro) c.25102A>C (p.Thr8368Pro) c.24958A>C (p.Thr8320Pro) c.504A>C c.837A>C c.891-3479A>C c.874A>C (p.Thr292Pro) c.23887A>C (p.Thr7963Pro) n.1850A>C c.3937A>C (p.Thr1313Pro) n.8794A>C c.3040A>C (p.Thr1014Pro) n.8686A>C n.1716A>C n.4124A>C n.1939A>C c.1567A>C (p.Thr523Pro) c.25207A>C (p.Thr8403Pro) c.25195A>C (p.Thr8399Pro) c.25186A>C (p.Thr8396Pro) c.25156A>C (p.Thr8386Pro) c.25192A>C (p.Thr8398Pro) c.25138A>C (p.Thr8380Pro) c.25135A>C (p.Thr8379Pro) c.25123A>C (p.Thr8375Pro) c.25066A>C (p.Thr8356Pro) c.25054A>C (p.Thr8352Pro) c.25051A>C (p.Thr8351Pro) c.25048A>C (p.Thr8350Pro) c.25204A>C (p.Thr8402Pro) c.25042A>C (p.Thr8348Pro) c.23482A>C (p.Thr7828Pro) c.22975A>C (p.Thr7659Pro) c.18442A>C (p.Thr6148Pro) c.1708A>C (p.Thr570Pro) c.25180A>C (p.Thr8394Pro) c.25129A>C (p.Thr8377Pro) c.24982A>C (p.Thr8328Pro) | |
| 6 | g.152143640T= | CA1673209263 | SYNE1 | c.1636A= (p.Thr546=) c.25102A= (p.Thr8368=) c.24958A= (p.Thr8320=) c.504A= c.837A= c.891-3479A= c.874A= (p.Thr292=) c.23887A= (p.Thr7963=) n.1850A= c.3937A= (p.Thr1313=) n.8794A= c.3040A= (p.Thr1014=) n.8686A= n.1716A= n.4124A= n.1939A= c.1567A= (p.Thr523=) c.25207A= (p.Thr8403=) c.25195A= (p.Thr8399=) c.25186A= (p.Thr8396=) c.25156A= (p.Thr8386=) c.25192A= (p.Thr8398=) c.25138A= (p.Thr8380=) c.25135A= (p.Thr8379=) c.25123A= (p.Thr8375=) c.25066A= (p.Thr8356=) c.25054A= (p.Thr8352=) c.25051A= (p.Thr8351=) c.25048A= (p.Thr8350=) c.25204A= (p.Thr8402=) c.25042A= (p.Thr8348=) c.23482A= (p.Thr7828=) c.22975A= (p.Thr7659=) c.18442A= (p.Thr6148=) c.1708A= (p.Thr570=) c.25180A= (p.Thr8394=) c.25129A= (p.Thr8377=) c.24982A= (p.Thr8328=) | |
| 6 | g.152143641G>A | CA452747206 | SYNE1 | c.1635C>T (p.Asp545=) c.25101C>T (p.Asp8367=) c.24957C>T (p.Asp8319=) c.503C>T c.836C>T c.891-3480C>T c.873C>T (p.Asp291=) c.23886C>T (p.Asp7962=) n.1849C>T c.3936C>T (p.Asp1312=) n.8793C>T c.3039C>T (p.Asp1013=) n.8685C>T n.1715C>T n.4123C>T n.1938C>T c.1566C>T (p.Asp522=) c.25206C>T (p.Asp8402=) c.25194C>T (p.Asp8398=) c.25185C>T (p.Asp8395=) c.25155C>T (p.Asp8385=) c.25191C>T (p.Asp8397=) c.25137C>T (p.Asp8379=) c.25134C>T (p.Asp8378=) c.25122C>T (p.Asp8374=) c.25065C>T (p.Asp8355=) c.25053C>T (p.Asp8351=) c.25050C>T (p.Asp8350=) c.25047C>T (p.Asp8349=) c.25203C>T (p.Asp8401=) c.25041C>T (p.Asp8347=) c.23481C>T (p.Asp7827=) c.22974C>T (p.Asp7658=) c.18441C>T (p.Asp6147=) c.1707C>T (p.Asp569=) c.25179C>T (p.Asp8393=) c.25128C>T (p.Asp8376=) c.24981C>T (p.Asp8327=) | |
| 6 | g.152143641G>C | CA366082951 | SYNE1 | c.1635C>G (p.Asp545Glu) c.25101C>G (p.Asp8367Glu) c.24957C>G (p.Asp8319Glu) c.503C>G c.836C>G c.891-3480C>G c.873C>G (p.Asp291Glu) c.23886C>G (p.Asp7962Glu) n.1849C>G c.3936C>G (p.Asp1312Glu) n.8793C>G c.3039C>G (p.Asp1013Glu) n.8685C>G n.1715C>G n.4123C>G n.1938C>G c.1566C>G (p.Asp522Glu) c.25206C>G (p.Asp8402Glu) c.25194C>G (p.Asp8398Glu) c.25185C>G (p.Asp8395Glu) c.25155C>G (p.Asp8385Glu) c.25191C>G (p.Asp8397Glu) c.25137C>G (p.Asp8379Glu) c.25134C>G (p.Asp8378Glu) c.25122C>G (p.Asp8374Glu) c.25065C>G (p.Asp8355Glu) c.25053C>G (p.Asp8351Glu) c.25050C>G (p.Asp8350Glu) c.25047C>G (p.Asp8349Glu) c.25203C>G (p.Asp8401Glu) c.25041C>G (p.Asp8347Glu) c.23481C>G (p.Asp7827Glu) c.22974C>G (p.Asp7658Glu) c.18441C>G (p.Asp6147Glu) c.1707C>G (p.Asp569Glu) c.25179C>G (p.Asp8393Glu) c.25128C>G (p.Asp8376Glu) c.24981C>G (p.Asp8327Glu) | |
| 6 | g.152143641G>T | CA366082950 | SYNE1 | c.1635C>A (p.Asp545Glu) c.25101C>A (p.Asp8367Glu) c.24957C>A (p.Asp8319Glu) c.503C>A c.836C>A c.891-3480C>A c.873C>A (p.Asp291Glu) c.23886C>A (p.Asp7962Glu) n.1849C>A c.3936C>A (p.Asp1312Glu) n.8793C>A c.3039C>A (p.Asp1013Glu) n.8685C>A n.1715C>A n.4123C>A n.1938C>A c.1566C>A (p.Asp522Glu) c.25206C>A (p.Asp8402Glu) c.25194C>A (p.Asp8398Glu) c.25185C>A (p.Asp8395Glu) c.25155C>A (p.Asp8385Glu) c.25191C>A (p.Asp8397Glu) c.25137C>A (p.Asp8379Glu) c.25134C>A (p.Asp8378Glu) c.25122C>A (p.Asp8374Glu) c.25065C>A (p.Asp8355Glu) c.25053C>A (p.Asp8351Glu) c.25050C>A (p.Asp8350Glu) c.25047C>A (p.Asp8349Glu) c.25203C>A (p.Asp8401Glu) c.25041C>A (p.Asp8347Glu) c.23481C>A (p.Asp7827Glu) c.22974C>A (p.Asp7658Glu) c.18441C>A (p.Asp6147Glu) c.1707C>A (p.Asp569Glu) c.25179C>A (p.Asp8393Glu) c.25128C>A (p.Asp8376Glu) c.24981C>A (p.Asp8327Glu) | |
| 6 | g.152143642T>A | CA366082952 | SYNE1 | c.1634A>T (p.Asp545Val) c.25100A>T (p.Asp8367Val) c.24956A>T (p.Asp8319Val) c.502A>T c.835A>T c.891-3481A>T c.872A>T (p.Asp291Val) c.23885A>T (p.Asp7962Val) n.1848A>T c.3935A>T (p.Asp1312Val) n.8792A>T c.3038A>T (p.Asp1013Val) n.8684A>T n.1714A>T n.4122A>T n.1937A>T c.1565A>T (p.Asp522Val) c.25205A>T (p.Asp8402Val) c.25193A>T (p.Asp8398Val) c.25184A>T (p.Asp8395Val) c.25154A>T (p.Asp8385Val) c.25190A>T (p.Asp8397Val) c.25136A>T (p.Asp8379Val) c.25133A>T (p.Asp8378Val) c.25121A>T (p.Asp8374Val) c.25064A>T (p.Asp8355Val) c.25052A>T (p.Asp8351Val) c.25049A>T (p.Asp8350Val) c.25046A>T (p.Asp8349Val) c.25202A>T (p.Asp8401Val) c.25040A>T (p.Asp8347Val) c.23480A>T (p.Asp7827Val) c.22973A>T (p.Asp7658Val) c.18440A>T (p.Asp6147Val) c.1706A>T (p.Asp569Val) c.25178A>T (p.Asp8393Val) c.25127A>T (p.Asp8376Val) c.24980A>T (p.Asp8327Val) | |
| 6 | g.152143642T>C | CA366082955 | SYNE1 | c.1634A>G (p.Asp545Gly) c.25100A>G (p.Asp8367Gly) c.24956A>G (p.Asp8319Gly) c.502A>G c.835A>G c.891-3481A>G c.872A>G (p.Asp291Gly) c.23885A>G (p.Asp7962Gly) n.1848A>G c.3935A>G (p.Asp1312Gly) n.8792A>G c.3038A>G (p.Asp1013Gly) n.8684A>G n.1714A>G n.4122A>G n.1937A>G c.1565A>G (p.Asp522Gly) c.25205A>G (p.Asp8402Gly) c.25193A>G (p.Asp8398Gly) c.25184A>G (p.Asp8395Gly) c.25154A>G (p.Asp8385Gly) c.25190A>G (p.Asp8397Gly) c.25136A>G (p.Asp8379Gly) c.25133A>G (p.Asp8378Gly) c.25121A>G (p.Asp8374Gly) c.25064A>G (p.Asp8355Gly) c.25052A>G (p.Asp8351Gly) c.25049A>G (p.Asp8350Gly) c.25046A>G (p.Asp8349Gly) c.25202A>G (p.Asp8401Gly) c.25040A>G (p.Asp8347Gly) c.23480A>G (p.Asp7827Gly) c.22973A>G (p.Asp7658Gly) c.18440A>G (p.Asp6147Gly) c.1706A>G (p.Asp569Gly) c.25178A>G (p.Asp8393Gly) c.25127A>G (p.Asp8376Gly) c.24980A>G (p.Asp8327Gly) | |
| 6 | g.152143642T>G | CA366082954 | SYNE1 | c.1634A>C (p.Asp545Ala) c.25100A>C (p.Asp8367Ala) c.24956A>C (p.Asp8319Ala) c.502A>C c.835A>C c.891-3481A>C c.872A>C (p.Asp291Ala) c.23885A>C (p.Asp7962Ala) n.1848A>C c.3935A>C (p.Asp1312Ala) n.8792A>C c.3038A>C (p.Asp1013Ala) n.8684A>C n.1714A>C n.4122A>C n.1937A>C c.1565A>C (p.Asp522Ala) c.25205A>C (p.Asp8402Ala) c.25193A>C (p.Asp8398Ala) c.25184A>C (p.Asp8395Ala) c.25154A>C (p.Asp8385Ala) c.25190A>C (p.Asp8397Ala) c.25136A>C (p.Asp8379Ala) c.25133A>C (p.Asp8378Ala) c.25121A>C (p.Asp8374Ala) c.25064A>C (p.Asp8355Ala) c.25052A>C (p.Asp8351Ala) c.25049A>C (p.Asp8350Ala) c.25046A>C (p.Asp8349Ala) c.25202A>C (p.Asp8401Ala) c.25040A>C (p.Asp8347Ala) c.23480A>C (p.Asp7827Ala) c.22973A>C (p.Asp7658Ala) c.18440A>C (p.Asp6147Ala) c.1706A>C (p.Asp569Ala) c.25178A>C (p.Asp8393Ala) c.25127A>C (p.Asp8376Ala) c.24980A>C (p.Asp8327Ala) | |
| 6 | g.152143643C>A | CA366082957 | SYNE1 | c.1633G>T (p.Asp545Tyr) c.25099G>T (p.Asp8367Tyr) c.24955G>T (p.Asp8319Tyr) c.501G>T c.834G>T c.891-3482G>T c.871G>T (p.Asp291Tyr) c.23884G>T (p.Asp7962Tyr) n.1847G>T c.3934G>T (p.Asp1312Tyr) n.8791G>T c.3037G>T (p.Asp1013Tyr) n.8683G>T n.1713G>T n.4121G>T n.1936G>T c.1564G>T (p.Asp522Tyr) c.25204G>T (p.Asp8402Tyr) c.25192G>T (p.Asp8398Tyr) c.25183G>T (p.Asp8395Tyr) c.25153G>T (p.Asp8385Tyr) c.25189G>T (p.Asp8397Tyr) c.25135G>T (p.Asp8379Tyr) c.25132G>T (p.Asp8378Tyr) c.25120G>T (p.Asp8374Tyr) c.25063G>T (p.Asp8355Tyr) c.25051G>T (p.Asp8351Tyr) c.25048G>T (p.Asp8350Tyr) c.25045G>T (p.Asp8349Tyr) c.25201G>T (p.Asp8401Tyr) c.25039G>T (p.Asp8347Tyr) c.23479G>T (p.Asp7827Tyr) c.22972G>T (p.Asp7658Tyr) c.18439G>T (p.Asp6147Tyr) c.1705G>T (p.Asp569Tyr) c.25177G>T (p.Asp8393Tyr) c.25126G>T (p.Asp8376Tyr) c.24979G>T (p.Asp8327Tyr) | |
| 6 | g.152143643C>G | CA366082959 | SYNE1 | c.1633G>C (p.Asp545His) c.25099G>C (p.Asp8367His) c.24955G>C (p.Asp8319His) c.501G>C c.834G>C c.891-3482G>C c.871G>C (p.Asp291His) c.23884G>C (p.Asp7962His) n.1847G>C c.3934G>C (p.Asp1312His) n.8791G>C c.3037G>C (p.Asp1013His) n.8683G>C n.1713G>C n.4121G>C n.1936G>C c.1564G>C (p.Asp522His) c.25204G>C (p.Asp8402His) c.25192G>C (p.Asp8398His) c.25183G>C (p.Asp8395His) c.25153G>C (p.Asp8385His) c.25189G>C (p.Asp8397His) c.25135G>C (p.Asp8379His) c.25132G>C (p.Asp8378His) c.25120G>C (p.Asp8374His) c.25063G>C (p.Asp8355His) c.25051G>C (p.Asp8351His) c.25048G>C (p.Asp8350His) c.25045G>C (p.Asp8349His) c.25201G>C (p.Asp8401His) c.25039G>C (p.Asp8347His) c.23479G>C (p.Asp7827His) c.22972G>C (p.Asp7658His) c.18439G>C (p.Asp6147His) c.1705G>C (p.Asp569His) c.25177G>C (p.Asp8393His) c.25126G>C (p.Asp8376His) c.24979G>C (p.Asp8327His) | |
| 6 | g.152143643C>T | CA366082961 | SYNE1 | c.1633G>A (p.Asp545Asn) c.25099G>A (p.Asp8367Asn) c.24955G>A (p.Asp8319Asn) c.501G>A c.834G>A c.891-3482G>A c.871G>A (p.Asp291Asn) c.23884G>A (p.Asp7962Asn) n.1847G>A c.3934G>A (p.Asp1312Asn) n.8791G>A c.3037G>A (p.Asp1013Asn) n.8683G>A n.1713G>A n.4121G>A n.1936G>A c.1564G>A (p.Asp522Asn) c.25204G>A (p.Asp8402Asn) c.25192G>A (p.Asp8398Asn) c.25183G>A (p.Asp8395Asn) c.25153G>A (p.Asp8385Asn) c.25189G>A (p.Asp8397Asn) c.25135G>A (p.Asp8379Asn) c.25132G>A (p.Asp8378Asn) c.25120G>A (p.Asp8374Asn) c.25063G>A (p.Asp8355Asn) c.25051G>A (p.Asp8351Asn) c.25048G>A (p.Asp8350Asn) c.25045G>A (p.Asp8349Asn) c.25201G>A (p.Asp8401Asn) c.25039G>A (p.Asp8347Asn) c.23479G>A (p.Asp7827Asn) c.22972G>A (p.Asp7658Asn) c.18439G>A (p.Asp6147Asn) c.1705G>A (p.Asp569Asn) c.25177G>A (p.Asp8393Asn) c.25126G>A (p.Asp8376Asn) c.24979G>A (p.Asp8327Asn) | |
| 6 | g.152143644T>A | CA452747209 | SYNE1 | c.1632A>T (p.Leu544=) c.25098A>T (p.Leu8366=) c.24954A>T (p.Leu8318=) c.500A>T c.833A>T c.891-3483A>T c.870A>T (p.Leu290=) c.23883A>T (p.Leu7961=) n.1846A>T c.3933A>T (p.Leu1311=) n.8790A>T c.3036A>T (p.Leu1012=) n.8682A>T n.1712A>T n.4120A>T n.1935A>T c.1563A>T (p.Leu521=) c.25203A>T (p.Leu8401=) c.25191A>T (p.Leu8397=) c.25182A>T (p.Leu8394=) c.25152A>T (p.Leu8384=) c.25188A>T (p.Leu8396=) c.25134A>T (p.Leu8378=) c.25131A>T (p.Leu8377=) c.25119A>T (p.Leu8373=) c.25062A>T (p.Leu8354=) c.25050A>T (p.Leu8350=) c.25047A>T (p.Leu8349=) c.25044A>T (p.Leu8348=) c.25200A>T (p.Leu8400=) c.25038A>T (p.Leu8346=) c.23478A>T (p.Leu7826=) c.22971A>T (p.Leu7657=) c.18438A>T (p.Leu6146=) c.1704A>T (p.Leu568=) c.25176A>T (p.Leu8392=) c.25125A>T (p.Leu8375=) c.24978A>T (p.Leu8326=) | |
| 6 | g.152143644T>C | CA452747211 | SYNE1 | c.1632A>G (p.Leu544=) c.25098A>G (p.Leu8366=) c.24954A>G (p.Leu8318=) c.500A>G c.833A>G c.891-3483A>G c.870A>G (p.Leu290=) c.23883A>G (p.Leu7961=) n.1846A>G c.3933A>G (p.Leu1311=) n.8790A>G c.3036A>G (p.Leu1012=) n.8682A>G n.1712A>G n.4120A>G n.1935A>G c.1563A>G (p.Leu521=) c.25203A>G (p.Leu8401=) c.25191A>G (p.Leu8397=) c.25182A>G (p.Leu8394=) c.25152A>G (p.Leu8384=) c.25188A>G (p.Leu8396=) c.25134A>G (p.Leu8378=) c.25131A>G (p.Leu8377=) c.25119A>G (p.Leu8373=) c.25062A>G (p.Leu8354=) c.25050A>G (p.Leu8350=) c.25047A>G (p.Leu8349=) c.25044A>G (p.Leu8348=) c.25200A>G (p.Leu8400=) c.25038A>G (p.Leu8346=) c.23478A>G (p.Leu7826=) c.22971A>G (p.Leu7657=) c.18438A>G (p.Leu6146=) c.1704A>G (p.Leu568=) c.25176A>G (p.Leu8392=) c.25125A>G (p.Leu8375=) c.24978A>G (p.Leu8326=) | |
| 6 | g.152143644T>G | CA452747212 | SYNE1 | c.1632A>C (p.Leu544=) c.25098A>C (p.Leu8366=) c.24954A>C (p.Leu8318=) c.500A>C c.833A>C c.891-3483A>C c.870A>C (p.Leu290=) c.23883A>C (p.Leu7961=) n.1846A>C c.3933A>C (p.Leu1311=) n.8790A>C c.3036A>C (p.Leu1012=) n.8682A>C n.1712A>C n.4120A>C n.1935A>C c.1563A>C (p.Leu521=) c.25203A>C (p.Leu8401=) c.25191A>C (p.Leu8397=) c.25182A>C (p.Leu8394=) c.25152A>C (p.Leu8384=) c.25188A>C (p.Leu8396=) c.25134A>C (p.Leu8378=) c.25131A>C (p.Leu8377=) c.25119A>C (p.Leu8373=) c.25062A>C (p.Leu8354=) c.25050A>C (p.Leu8350=) c.25047A>C (p.Leu8349=) c.25044A>C (p.Leu8348=) c.25200A>C (p.Leu8400=) c.25038A>C (p.Leu8346=) c.23478A>C (p.Leu7826=) c.22971A>C (p.Leu7657=) c.18438A>C (p.Leu6146=) c.1704A>C (p.Leu568=) c.25176A>C (p.Leu8392=) c.25125A>C (p.Leu8375=) c.24978A>C (p.Leu8326=) | |
| 6 | g.152143645A>C | CA366082962 | SYNE1 | c.1631T>G (p.Leu544Arg) c.25097T>G (p.Leu8366Arg) c.24953T>G (p.Leu8318Arg) c.499T>G c.832T>G c.891-3484T>G c.869T>G (p.Leu290Arg) c.23882T>G (p.Leu7961Arg) n.1845T>G c.3932T>G (p.Leu1311Arg) n.8789T>G c.3035T>G (p.Leu1012Arg) n.8681T>G n.1711T>G n.4119T>G n.1934T>G c.1562T>G (p.Leu521Arg) c.25202T>G (p.Leu8401Arg) c.25190T>G (p.Leu8397Arg) c.25181T>G (p.Leu8394Arg) c.25151T>G (p.Leu8384Arg) c.25187T>G (p.Leu8396Arg) c.25133T>G (p.Leu8378Arg) c.25130T>G (p.Leu8377Arg) c.25118T>G (p.Leu8373Arg) c.25061T>G (p.Leu8354Arg) c.25049T>G (p.Leu8350Arg) c.25046T>G (p.Leu8349Arg) c.25043T>G (p.Leu8348Arg) c.25199T>G (p.Leu8400Arg) c.25037T>G (p.Leu8346Arg) c.23477T>G (p.Leu7826Arg) c.22970T>G (p.Leu7657Arg) c.18437T>G (p.Leu6146Arg) c.1703T>G (p.Leu568Arg) c.25175T>G (p.Leu8392Arg) c.25124T>G (p.Leu8375Arg) c.24977T>G (p.Leu8326Arg) | |
| 6 | g.152143645A>G | CA366082964 | SYNE1 | c.1631T>C (p.Leu544Pro) c.25097T>C (p.Leu8366Pro) c.24953T>C (p.Leu8318Pro) c.499T>C c.832T>C c.891-3484T>C c.869T>C (p.Leu290Pro) c.23882T>C (p.Leu7961Pro) n.1845T>C c.3932T>C (p.Leu1311Pro) n.8789T>C c.3035T>C (p.Leu1012Pro) n.8681T>C n.1711T>C n.4119T>C n.1934T>C c.1562T>C (p.Leu521Pro) c.25202T>C (p.Leu8401Pro) c.25190T>C (p.Leu8397Pro) c.25181T>C (p.Leu8394Pro) c.25151T>C (p.Leu8384Pro) c.25187T>C (p.Leu8396Pro) c.25133T>C (p.Leu8378Pro) c.25130T>C (p.Leu8377Pro) c.25118T>C (p.Leu8373Pro) c.25061T>C (p.Leu8354Pro) c.25049T>C (p.Leu8350Pro) c.25046T>C (p.Leu8349Pro) c.25043T>C (p.Leu8348Pro) c.25199T>C (p.Leu8400Pro) c.25037T>C (p.Leu8346Pro) c.23477T>C (p.Leu7826Pro) c.22970T>C (p.Leu7657Pro) c.18437T>C (p.Leu6146Pro) c.1703T>C (p.Leu568Pro) c.25175T>C (p.Leu8392Pro) c.25124T>C (p.Leu8375Pro) c.24977T>C (p.Leu8326Pro) | |
| 6 | g.152143645A>T | CA366082965 | SYNE1 | c.1631T>A (p.Leu544Gln) c.25097T>A (p.Leu8366Gln) c.24953T>A (p.Leu8318Gln) c.499T>A c.832T>A c.891-3484T>A c.869T>A (p.Leu290Gln) c.23882T>A (p.Leu7961Gln) n.1845T>A c.3932T>A (p.Leu1311Gln) n.8789T>A c.3035T>A (p.Leu1012Gln) n.8681T>A n.1711T>A n.4119T>A n.1934T>A c.1562T>A (p.Leu521Gln) c.25202T>A (p.Leu8401Gln) c.25190T>A (p.Leu8397Gln) c.25181T>A (p.Leu8394Gln) c.25151T>A (p.Leu8384Gln) c.25187T>A (p.Leu8396Gln) c.25133T>A (p.Leu8378Gln) c.25130T>A (p.Leu8377Gln) c.25118T>A (p.Leu8373Gln) c.25061T>A (p.Leu8354Gln) c.25049T>A (p.Leu8350Gln) c.25046T>A (p.Leu8349Gln) c.25043T>A (p.Leu8348Gln) c.25199T>A (p.Leu8400Gln) c.25037T>A (p.Leu8346Gln) c.23477T>A (p.Leu7826Gln) c.22970T>A (p.Leu7657Gln) c.18437T>A (p.Leu6146Gln) c.1703T>A (p.Leu568Gln) c.25175T>A (p.Leu8392Gln) c.25124T>A (p.Leu8375Gln) c.24977T>A (p.Leu8326Gln) | |
| 6 | g.152143646G>A | CA452747213 | SYNE1 | c.1630C>T (p.Leu544=) c.25096C>T (p.Leu8366=) c.24952C>T (p.Leu8318=) c.498C>T c.831C>T c.891-3485C>T c.868C>T (p.Leu290=) c.23881C>T (p.Leu7961=) n.1844C>T c.3931C>T (p.Leu1311=) n.8788C>T c.3034C>T (p.Leu1012=) n.8680C>T n.1710C>T n.4118C>T n.1933C>T c.1561C>T (p.Leu521=) c.25201C>T (p.Leu8401=) c.25189C>T (p.Leu8397=) c.25180C>T (p.Leu8394=) c.25150C>T (p.Leu8384=) c.25186C>T (p.Leu8396=) c.25132C>T (p.Leu8378=) c.25129C>T (p.Leu8377=) c.25117C>T (p.Leu8373=) c.25060C>T (p.Leu8354=) c.25048C>T (p.Leu8350=) c.25045C>T (p.Leu8349=) c.25042C>T (p.Leu8348=) c.25198C>T (p.Leu8400=) c.25036C>T (p.Leu8346=) c.23476C>T (p.Leu7826=) c.22969C>T (p.Leu7657=) c.18436C>T (p.Leu6146=) c.1702C>T (p.Leu568=) c.25174C>T (p.Leu8392=) c.25123C>T (p.Leu8375=) c.24976C>T (p.Leu8326=) | |
| 6 | g.152143646G>C | CA366082967 | SYNE1 | c.1630C>G (p.Leu544Val) c.25096C>G (p.Leu8366Val) c.24952C>G (p.Leu8318Val) c.498C>G c.831C>G c.891-3485C>G c.868C>G (p.Leu290Val) c.23881C>G (p.Leu7961Val) n.1844C>G c.3931C>G (p.Leu1311Val) n.8788C>G c.3034C>G (p.Leu1012Val) n.8680C>G n.1710C>G n.4118C>G n.1933C>G c.1561C>G (p.Leu521Val) c.25201C>G (p.Leu8401Val) c.25189C>G (p.Leu8397Val) c.25180C>G (p.Leu8394Val) c.25150C>G (p.Leu8384Val) c.25186C>G (p.Leu8396Val) c.25132C>G (p.Leu8378Val) c.25129C>G (p.Leu8377Val) c.25117C>G (p.Leu8373Val) c.25060C>G (p.Leu8354Val) c.25048C>G (p.Leu8350Val) c.25045C>G (p.Leu8349Val) c.25042C>G (p.Leu8348Val) c.25198C>G (p.Leu8400Val) c.25036C>G (p.Leu8346Val) c.23476C>G (p.Leu7826Val) c.22969C>G (p.Leu7657Val) c.18436C>G (p.Leu6146Val) c.1702C>G (p.Leu568Val) c.25174C>G (p.Leu8392Val) c.25123C>G (p.Leu8375Val) c.24976C>G (p.Leu8326Val) | |
| 6 | g.152143646G>T | CA366082969 | SYNE1 | c.1630C>A (p.Leu544Ile) c.25096C>A (p.Leu8366Ile) c.24952C>A (p.Leu8318Ile) c.498C>A c.831C>A c.891-3485C>A c.868C>A (p.Leu290Ile) c.23881C>A (p.Leu7961Ile) n.1844C>A c.3931C>A (p.Leu1311Ile) n.8788C>A c.3034C>A (p.Leu1012Ile) n.8680C>A n.1710C>A n.4118C>A n.1933C>A c.1561C>A (p.Leu521Ile) c.25201C>A (p.Leu8401Ile) c.25189C>A (p.Leu8397Ile) c.25180C>A (p.Leu8394Ile) c.25150C>A (p.Leu8384Ile) c.25186C>A (p.Leu8396Ile) c.25132C>A (p.Leu8378Ile) c.25129C>A (p.Leu8377Ile) c.25117C>A (p.Leu8373Ile) c.25060C>A (p.Leu8354Ile) c.25048C>A (p.Leu8350Ile) c.25045C>A (p.Leu8349Ile) c.25042C>A (p.Leu8348Ile) c.25198C>A (p.Leu8400Ile) c.25036C>A (p.Leu8346Ile) c.23476C>A (p.Leu7826Ile) c.22969C>A (p.Leu7657Ile) c.18436C>A (p.Leu6146Ile) c.1702C>A (p.Leu568Ile) c.25174C>A (p.Leu8392Ile) c.25123C>A (p.Leu8375Ile) c.24976C>A (p.Leu8326Ile) | |
| 6 | g.152143647C>A | CA366082970 | SYNE1 | c.1629G>T (p.Glu543Asp) c.25095G>T (p.Glu8365Asp) c.24951G>T (p.Glu8317Asp) c.497G>T c.830G>T c.891-3486G>T c.867G>T (p.Glu289Asp) c.23880G>T (p.Glu7960Asp) n.1843G>T c.3930G>T (p.Glu1310Asp) n.8787G>T c.3033G>T (p.Glu1011Asp) n.8679G>T n.1709G>T n.4117G>T n.1932G>T c.1560G>T (p.Glu520Asp) c.25200G>T (p.Glu8400Asp) c.25188G>T (p.Glu8396Asp) c.25179G>T (p.Glu8393Asp) c.25149G>T (p.Glu8383Asp) c.25185G>T (p.Glu8395Asp) c.25131G>T (p.Glu8377Asp) c.25128G>T (p.Glu8376Asp) c.25116G>T (p.Glu8372Asp) c.25059G>T (p.Glu8353Asp) c.25047G>T (p.Glu8349Asp) c.25044G>T (p.Glu8348Asp) c.25041G>T (p.Glu8347Asp) c.25197G>T (p.Glu8399Asp) c.25035G>T (p.Glu8345Asp) c.23475G>T (p.Glu7825Asp) c.22968G>T (p.Glu7656Asp) c.18435G>T (p.Glu6145Asp) c.1701G>T (p.Glu567Asp) c.25173G>T (p.Glu8391Asp) c.25122G>T (p.Glu8374Asp) c.24975G>T (p.Glu8325Asp) | |
| 6 | g.152143647C= | CA1673209264 | SYNE1 | c.1629G= (p.Glu543=) c.25095G= (p.Glu8365=) c.24951G= (p.Glu8317=) c.497G= c.830G= c.891-3486G= c.867G= (p.Glu289=) c.23880G= (p.Glu7960=) n.1843G= c.3930G= (p.Glu1310=) n.8787G= c.3033G= (p.Glu1011=) n.8679G= n.1709G= n.4117G= n.1932G= c.1560G= (p.Glu520=) c.25200G= (p.Glu8400=) c.25188G= (p.Glu8396=) c.25179G= (p.Glu8393=) c.25149G= (p.Glu8383=) c.25185G= (p.Glu8395=) c.25131G= (p.Glu8377=) c.25128G= (p.Glu8376=) c.25116G= (p.Glu8372=) c.25059G= (p.Glu8353=) c.25047G= (p.Glu8349=) c.25044G= (p.Glu8348=) c.25041G= (p.Glu8347=) c.25197G= (p.Glu8399=) c.25035G= (p.Glu8345=) c.23475G= (p.Glu7825=) c.22968G= (p.Glu7656=) c.18435G= (p.Glu6145=) c.1701G= (p.Glu567=) c.25173G= (p.Glu8391=) c.25122G= (p.Glu8374=) c.24975G= (p.Glu8325=) |