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 |
|---|---|---|---|---|---|
| 9 | g.128621199C>A | CA467304108 | SPTAN1 | c.5811C>A (p.Thr1937=) c.5775C>A (p.Thr1925=) c.5238C>A (p.Thr1746=) c.3398C>A c.1385C>A n.1003C>A c.5700C>A (p.Thr1900=) c.5760C>A (p.Thr1920=) n.93C>A c.5715C>A (p.Thr1905=) c.5796C>A (p.Thr1932=) c.5751C>A (p.Thr1917=) c.5736C>A (p.Thr1912=) | |
| 9 | g.128621199C= | CA1880365747 | SPTAN1 | c.5811C= (p.Thr1937=) c.5775C= (p.Thr1925=) c.5238C= (p.Thr1746=) c.3398C= c.1385C= n.1003C= c.5700C= (p.Thr1900=) c.5760C= (p.Thr1920=) n.93C= c.5715C= (p.Thr1905=) c.5796C= (p.Thr1932=) c.5751C= (p.Thr1917=) c.5736C= (p.Thr1912=) | |
| 9 | g.128621199C>G | CA467304109 | SPTAN1 | c.5811C>G (p.Thr1937=) c.5775C>G (p.Thr1925=) c.5238C>G (p.Thr1746=) c.3398C>G c.1385C>G n.1003C>G c.5700C>G (p.Thr1900=) c.5760C>G (p.Thr1920=) n.93C>G c.5715C>G (p.Thr1905=) c.5796C>G (p.Thr1932=) c.5751C>G (p.Thr1917=) c.5736C>G (p.Thr1912=) | |
| 9 | g.128621199C>T | CA293745 | SPTAN1 | c.5811C>T (p.Thr1937=) c.5775C>T (p.Thr1925=) c.5238C>T (p.Thr1746=) c.3398C>T c.1385C>T n.1003C>T c.5700C>T (p.Thr1900=) c.5760C>T (p.Thr1920=) n.93C>T c.5715C>T (p.Thr1905=) c.5796C>T (p.Thr1932=) c.5751C>T (p.Thr1917=) c.5736C>T (p.Thr1912=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128621200G>A | CA375079905 | SPTAN1 | c.5812G>A (p.Val1938Ile) c.5776G>A (p.Val1926Ile) c.5239G>A (p.Val1747Ile) c.3399G>A c.1386G>A n.1004G>A c.5701G>A (p.Val1901Ile) c.5761G>A (p.Val1921Ile) n.94G>A c.5716G>A (p.Val1906Ile) c.5797G>A (p.Val1933Ile) c.5752G>A (p.Val1918Ile) c.5737G>A (p.Val1913Ile) | dbSNP gnomAD v4 |
| 9 | g.128621200G>C | CA375079902 | SPTAN1 | c.5812G>C (p.Val1938Leu) c.5776G>C (p.Val1926Leu) c.5239G>C (p.Val1747Leu) c.3399G>C c.1386G>C n.1004G>C c.5701G>C (p.Val1901Leu) c.5761G>C (p.Val1921Leu) n.94G>C c.5716G>C (p.Val1906Leu) c.5797G>C (p.Val1933Leu) c.5752G>C (p.Val1918Leu) c.5737G>C (p.Val1913Leu) | |
| 9 | g.128621200G= | CA1880365748 | SPTAN1 | c.5812G= (p.Val1938=) c.5776G= (p.Val1926=) c.5239G= (p.Val1747=) c.3399G= c.1386G= n.1004G= c.5701G= (p.Val1901=) c.5761G= (p.Val1921=) n.94G= c.5716G= (p.Val1906=) c.5797G= (p.Val1933=) c.5752G= (p.Val1918=) c.5737G= (p.Val1913=) | |
| 9 | g.128621200G>T | CA375079904 | SPTAN1 | c.5812G>T (p.Val1938Phe) c.5776G>T (p.Val1926Phe) c.5239G>T (p.Val1747Phe) c.3399G>T c.1386G>T n.1004G>T c.5701G>T (p.Val1901Phe) c.5761G>T (p.Val1921Phe) n.94G>T c.5716G>T (p.Val1906Phe) c.5797G>T (p.Val1933Phe) c.5752G>T (p.Val1918Phe) c.5737G>T (p.Val1913Phe) | |
| 9 | g.128621201T>A | CA375079906 | SPTAN1 | c.5813T>A (p.Val1938Asp) c.5777T>A (p.Val1926Asp) c.5240T>A (p.Val1747Asp) c.3400T>A c.1387T>A n.1005T>A c.5702T>A (p.Val1901Asp) c.5762T>A (p.Val1921Asp) n.95T>A c.5717T>A (p.Val1906Asp) c.5798T>A (p.Val1933Asp) c.5753T>A (p.Val1918Asp) c.5738T>A (p.Val1913Asp) | |
| 9 | g.128621201T>C | CA375079907 | SPTAN1 | c.5813T>C (p.Val1938Ala) c.5777T>C (p.Val1926Ala) c.5240T>C (p.Val1747Ala) c.3400T>C c.1387T>C n.1005T>C c.5702T>C (p.Val1901Ala) c.5762T>C (p.Val1921Ala) n.95T>C c.5717T>C (p.Val1906Ala) c.5798T>C (p.Val1933Ala) c.5753T>C (p.Val1918Ala) c.5738T>C (p.Val1913Ala) | |
| 9 | g.128621201T>G | CA375079909 | SPTAN1 | c.5813T>G (p.Val1938Gly) c.5777T>G (p.Val1926Gly) c.5240T>G (p.Val1747Gly) c.3400T>G c.1387T>G n.1005T>G c.5702T>G (p.Val1901Gly) c.5762T>G (p.Val1921Gly) n.95T>G c.5717T>G (p.Val1906Gly) c.5798T>G (p.Val1933Gly) c.5753T>G (p.Val1918Gly) c.5738T>G (p.Val1913Gly) | |
| 9 | g.128621202C>A | CA467304110 | SPTAN1 | c.5814C>A (p.Val1938=) c.5778C>A (p.Val1926=) c.5241C>A (p.Val1747=) c.3401C>A c.1388C>A n.1006C>A c.5703C>A (p.Val1901=) c.5763C>A (p.Val1921=) n.96C>A c.5718C>A (p.Val1906=) c.5799C>A (p.Val1933=) c.5754C>A (p.Val1918=) c.5739C>A (p.Val1913=) | |
| 9 | g.128621202C>G | CA467304111 | SPTAN1 | c.5814C>G (p.Val1938=) c.5778C>G (p.Val1926=) c.5241C>G (p.Val1747=) c.3401C>G c.1388C>G n.1006C>G c.5703C>G (p.Val1901=) c.5763C>G (p.Val1921=) n.96C>G c.5718C>G (p.Val1906=) c.5799C>G (p.Val1933=) c.5754C>G (p.Val1918=) c.5739C>G (p.Val1913=) | |
| 9 | g.128621202C>T | CA467304112 | SPTAN1 | c.5814C>T (p.Val1938=) c.5778C>T (p.Val1926=) c.5241C>T (p.Val1747=) c.3401C>T c.1388C>T n.1006C>T c.5703C>T (p.Val1901=) c.5763C>T (p.Val1921=) n.96C>T c.5718C>T (p.Val1906=) c.5799C>T (p.Val1933=) c.5754C>T (p.Val1918=) c.5739C>T (p.Val1913=) | |
| 9 | g.128621203C>A | CA375079916 | SPTAN1 | c.5815C>A (p.His1939Asn) c.5779C>A (p.His1927Asn) c.5242C>A (p.His1748Asn) c.3402C>A c.1389C>A n.1007C>A c.5704C>A (p.His1902Asn) c.5764C>A (p.His1922Asn) n.97C>A c.5719C>A (p.His1907Asn) c.5800C>A (p.His1934Asn) c.5755C>A (p.His1919Asn) c.5740C>A (p.His1914Asn) | |
| 9 | g.128621203C>G | CA375079927 | SPTAN1 | c.5815C>G (p.His1939Asp) c.5779C>G (p.His1927Asp) c.5242C>G (p.His1748Asp) c.3402C>G c.1389C>G n.1007C>G c.5704C>G (p.His1902Asp) c.5764C>G (p.His1922Asp) n.97C>G c.5719C>G (p.His1907Asp) c.5800C>G (p.His1934Asp) c.5755C>G (p.His1919Asp) c.5740C>G (p.His1914Asp) | |
| 9 | g.128621203C>T | CA375079928 | SPTAN1 | c.5815C>T (p.His1939Tyr) c.5779C>T (p.His1927Tyr) c.5242C>T (p.His1748Tyr) c.3402C>T c.1389C>T n.1007C>T c.5704C>T (p.His1902Tyr) c.5764C>T (p.His1922Tyr) n.97C>T c.5719C>T (p.His1907Tyr) c.5800C>T (p.His1934Tyr) c.5755C>T (p.His1919Tyr) c.5740C>T (p.His1914Tyr) | |
| 9 | g.128621204A>C | CA375079933 | SPTAN1 | c.5816A>C (p.His1939Pro) c.5780A>C (p.His1927Pro) c.5243A>C (p.His1748Pro) c.3403A>C c.1390A>C n.1008A>C c.5705A>C (p.His1902Pro) c.5765A>C (p.His1922Pro) n.98A>C c.5720A>C (p.His1907Pro) c.5801A>C (p.His1934Pro) c.5756A>C (p.His1919Pro) c.5741A>C (p.His1914Pro) | |
| 9 | g.128621204A>G | CA375079938 | SPTAN1 | c.5816A>G (p.His1939Arg) c.5780A>G (p.His1927Arg) c.5243A>G (p.His1748Arg) c.3403A>G c.1390A>G n.1008A>G c.5705A>G (p.His1902Arg) c.5765A>G (p.His1922Arg) n.98A>G c.5720A>G (p.His1907Arg) c.5801A>G (p.His1934Arg) c.5756A>G (p.His1919Arg) c.5741A>G (p.His1914Arg) | gnomAD v4 |
| 9 | g.128621204A>T | CA375079940 | SPTAN1 | c.5816A>T (p.His1939Leu) c.5780A>T (p.His1927Leu) c.5243A>T (p.His1748Leu) c.3403A>T c.1390A>T n.1008A>T c.5705A>T (p.His1902Leu) c.5765A>T (p.His1922Leu) n.98A>T c.5720A>T (p.His1907Leu) c.5801A>T (p.His1934Leu) c.5756A>T (p.His1919Leu) c.5741A>T (p.His1914Leu) | |
| 9 | g.128621205C>A | CA375079942 | SPTAN1 | c.5817C>A (p.His1939Gln) c.5781C>A (p.His1927Gln) c.5244C>A (p.His1748Gln) c.3404C>A c.1391C>A n.1009C>A c.5706C>A (p.His1902Gln) c.5766C>A (p.His1922Gln) n.99C>A c.5721C>A (p.His1907Gln) c.5802C>A (p.His1934Gln) c.5757C>A (p.His1919Gln) c.5742C>A (p.His1914Gln) | |
| 9 | g.128621205C= | CA1880365749 | SPTAN1 | c.5817C= (p.His1939=) c.5781C= (p.His1927=) c.5244C= (p.His1748=) c.3404C= c.1391C= n.1009C= c.5706C= (p.His1902=) c.5766C= (p.His1922=) n.99C= c.5721C= (p.His1907=) c.5802C= (p.His1934=) c.5757C= (p.His1919=) c.5742C= (p.His1914=) | |
| 9 | g.128621205C>G | CA375079943 | SPTAN1 | c.5817C>G (p.His1939Gln) c.5781C>G (p.His1927Gln) c.5244C>G (p.His1748Gln) c.3404C>G c.1391C>G n.1009C>G c.5706C>G (p.His1902Gln) c.5766C>G (p.His1922Gln) n.99C>G c.5721C>G (p.His1907Gln) c.5802C>G (p.His1934Gln) c.5757C>G (p.His1919Gln) c.5742C>G (p.His1914Gln) | |
| 9 | g.128621205C>T | CA467304113 | SPTAN1 | c.5817C>T (p.His1939=) c.5781C>T (p.His1927=) c.5244C>T (p.His1748=) c.3404C>T c.1391C>T n.1009C>T c.5706C>T (p.His1902=) c.5766C>T (p.His1922=) n.99C>T c.5721C>T (p.His1907=) c.5802C>T (p.His1934=) c.5757C>T (p.His1919=) c.5742C>T (p.His1914=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128621206A= | CA1880365750 | SPTAN1 | c.5818A= (p.Lys1940=) c.5782A= (p.Lys1928=) c.5245A= (p.Lys1749=) c.3405A= c.1392A= n.1010A= c.5707A= (p.Lys1903=) c.5767A= (p.Lys1923=) n.100A= c.5722A= (p.Lys1908=) c.5803A= (p.Lys1935=) c.5758A= (p.Lys1920=) c.5743A= (p.Lys1915=) | |
| 9 | g.128621206A>C | CA375079948 | SPTAN1 | c.5818A>C (p.Lys1940Gln) c.5782A>C (p.Lys1928Gln) c.5245A>C (p.Lys1749Gln) c.3405A>C c.1392A>C n.1010A>C c.5707A>C (p.Lys1903Gln) c.5767A>C (p.Lys1923Gln) n.100A>C c.5722A>C (p.Lys1908Gln) c.5803A>C (p.Lys1935Gln) c.5758A>C (p.Lys1920Gln) c.5743A>C (p.Lys1915Gln) | |
| 9 | g.128621206A>G | CA375079965 | SPTAN1 | c.5818A>G (p.Lys1940Glu) c.5782A>G (p.Lys1928Glu) c.5245A>G (p.Lys1749Glu) c.3405A>G c.1392A>G n.1010A>G c.5707A>G (p.Lys1903Glu) c.5767A>G (p.Lys1923Glu) n.100A>G c.5722A>G (p.Lys1908Glu) c.5803A>G (p.Lys1935Glu) c.5758A>G (p.Lys1920Glu) c.5743A>G (p.Lys1915Glu) | dbSNP |
| 9 | g.128621206A>T | CA375079954 | SPTAN1 | c.5818A>T (p.Lys1940Ter) c.5782A>T (p.Lys1928Ter) c.5245A>T (p.Lys1749Ter) c.3405A>T c.1392A>T n.1010A>T c.5707A>T (p.Lys1903Ter) c.5767A>T (p.Lys1923Ter) n.100A>T c.5722A>T (p.Lys1908Ter) c.5803A>T (p.Lys1935Ter) c.5758A>T (p.Lys1920Ter) c.5743A>T (p.Lys1915Ter) | |
| 9 | g.128621207A>C | CA375079970 | SPTAN1 | c.5819A>C (p.Lys1940Thr) c.5783A>C (p.Lys1928Thr) c.5246A>C (p.Lys1749Thr) c.3406A>C c.1393A>C n.1011A>C c.5708A>C (p.Lys1903Thr) c.5768A>C (p.Lys1923Thr) n.101A>C c.5723A>C (p.Lys1908Thr) c.5804A>C (p.Lys1935Thr) c.5759A>C (p.Lys1920Thr) c.5744A>C (p.Lys1915Thr) | |
| 9 | g.128621207A>G | CA375079972 | SPTAN1 | c.5819A>G (p.Lys1940Arg) c.5783A>G (p.Lys1928Arg) c.5246A>G (p.Lys1749Arg) c.3406A>G c.1393A>G n.1011A>G c.5708A>G (p.Lys1903Arg) c.5768A>G (p.Lys1923Arg) n.101A>G c.5723A>G (p.Lys1908Arg) c.5804A>G (p.Lys1935Arg) c.5759A>G (p.Lys1920Arg) c.5744A>G (p.Lys1915Arg) | gnomAD v4 |
| 9 | g.128621207A>T | CA375079971 | SPTAN1 | c.5819A>T (p.Lys1940Met) c.5783A>T (p.Lys1928Met) c.5246A>T (p.Lys1749Met) c.3406A>T c.1393A>T n.1011A>T c.5708A>T (p.Lys1903Met) c.5768A>T (p.Lys1923Met) n.101A>T c.5723A>T (p.Lys1908Met) c.5804A>T (p.Lys1935Met) c.5759A>T (p.Lys1920Met) c.5744A>T (p.Lys1915Met) | |
| 9 | g.128621208G>A | CA5265559 | SPTAN1 | c.5820G>A (p.Lys1940=) c.5784G>A (p.Lys1928=) c.5247G>A (p.Lys1749=) c.3407G>A c.1394G>A n.1012G>A c.5709G>A (p.Lys1903=) c.5769G>A (p.Lys1923=) n.102G>A c.5724G>A (p.Lys1908=) c.5805G>A (p.Lys1935=) c.5760G>A (p.Lys1920=) c.5745G>A (p.Lys1915=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128621208G>C | CA375079976 | SPTAN1 | c.5820G>C (p.Lys1940Asn) c.5784G>C (p.Lys1928Asn) c.5247G>C (p.Lys1749Asn) c.3407G>C c.1394G>C n.1012G>C c.5709G>C (p.Lys1903Asn) c.5769G>C (p.Lys1923Asn) n.102G>C c.5724G>C (p.Lys1908Asn) c.5805G>C (p.Lys1935Asn) c.5760G>C (p.Lys1920Asn) c.5745G>C (p.Lys1915Asn) | |
| 9 | g.128621208G= | CA1880365751 | SPTAN1 | c.5820G= (p.Lys1940=) c.5784G= (p.Lys1928=) c.5247G= (p.Lys1749=) c.3407G= c.1394G= n.1012G= c.5709G= (p.Lys1903=) c.5769G= (p.Lys1923=) n.102G= c.5724G= (p.Lys1908=) c.5805G= (p.Lys1935=) c.5760G= (p.Lys1920=) c.5745G= (p.Lys1915=) | |
| 9 | g.128621208G>T | CA375079974 | SPTAN1 | c.5820G>T (p.Lys1940Asn) c.5784G>T (p.Lys1928Asn) c.5247G>T (p.Lys1749Asn) c.3407G>T c.1394G>T n.1012G>T c.5709G>T (p.Lys1903Asn) c.5769G>T (p.Lys1923Asn) n.102G>T c.5724G>T (p.Lys1908Asn) c.5805G>T (p.Lys1935Asn) c.5760G>T (p.Lys1920Asn) c.5745G>T (p.Lys1915Asn) | |
| 9 | g.128621209G>A | CA375079979 | SPTAN1 | c.5821G>A (p.Asp1941Asn) c.5785G>A (p.Asp1929Asn) c.5248G>A (p.Asp1750Asn) c.3408G>A c.1395G>A n.1013G>A c.5710G>A (p.Asp1904Asn) c.5770G>A (p.Asp1924Asn) n.103G>A c.5725G>A (p.Asp1909Asn) c.5806G>A (p.Asp1936Asn) c.5761G>A (p.Asp1921Asn) c.5746G>A (p.Asp1916Asn) | |
| 9 | g.128621209G>C | CA375079980 | SPTAN1 | c.5821G>C (p.Asp1941His) c.5785G>C (p.Asp1929His) c.5248G>C (p.Asp1750His) c.3408G>C c.1395G>C n.1013G>C c.5710G>C (p.Asp1904His) c.5770G>C (p.Asp1924His) n.103G>C c.5725G>C (p.Asp1909His) c.5806G>C (p.Asp1936His) c.5761G>C (p.Asp1921His) c.5746G>C (p.Asp1916His) | |
| 9 | g.128621209G>T | CA375079983 | SPTAN1 | c.5821G>T (p.Asp1941Tyr) c.5785G>T (p.Asp1929Tyr) c.5248G>T (p.Asp1750Tyr) c.3408G>T c.1395G>T n.1013G>T c.5710G>T (p.Asp1904Tyr) c.5770G>T (p.Asp1924Tyr) n.103G>T c.5725G>T (p.Asp1909Tyr) c.5806G>T (p.Asp1936Tyr) c.5761G>T (p.Asp1921Tyr) c.5746G>T (p.Asp1916Tyr) | |
| 9 | g.128621210A>C | CA375079985 | SPTAN1 | c.5822A>C (p.Asp1941Ala) c.5786A>C (p.Asp1929Ala) c.5249A>C (p.Asp1750Ala) c.3409A>C c.1396A>C n.1014A>C c.5711A>C (p.Asp1904Ala) c.5771A>C (p.Asp1924Ala) n.104A>C c.5726A>C (p.Asp1909Ala) c.5807A>C (p.Asp1936Ala) c.5762A>C (p.Asp1921Ala) c.5747A>C (p.Asp1916Ala) | |
| 9 | g.128621210A>G | CA375079994 | SPTAN1 | c.5822A>G (p.Asp1941Gly) c.5786A>G (p.Asp1929Gly) c.5249A>G (p.Asp1750Gly) c.3409A>G c.1396A>G n.1014A>G c.5711A>G (p.Asp1904Gly) c.5771A>G (p.Asp1924Gly) n.104A>G c.5726A>G (p.Asp1909Gly) c.5807A>G (p.Asp1936Gly) c.5762A>G (p.Asp1921Gly) c.5747A>G (p.Asp1916Gly) | |
| 9 | g.128621210A>T | CA375079997 | SPTAN1 | c.5822A>T (p.Asp1941Val) c.5786A>T (p.Asp1929Val) c.5249A>T (p.Asp1750Val) c.3409A>T c.1396A>T n.1014A>T c.5711A>T (p.Asp1904Val) c.5771A>T (p.Asp1924Val) n.104A>T c.5726A>T (p.Asp1909Val) c.5807A>T (p.Asp1936Val) c.5762A>T (p.Asp1921Val) c.5747A>T (p.Asp1916Val) | |
| 9 | g.128621211T>A | CA375080004 | SPTAN1 | c.5823T>A (p.Asp1941Glu) c.5787T>A (p.Asp1929Glu) c.5250T>A (p.Asp1750Glu) c.3410T>A c.1397T>A n.1015T>A c.5712T>A (p.Asp1904Glu) c.5772T>A (p.Asp1924Glu) n.105T>A c.5727T>A (p.Asp1909Glu) c.5808T>A (p.Asp1936Glu) c.5763T>A (p.Asp1921Glu) c.5748T>A (p.Asp1916Glu) | |
| 9 | g.128621211T>C | CA467304114 | SPTAN1 | c.5823T>C (p.Asp1941=) c.5787T>C (p.Asp1929=) c.5250T>C (p.Asp1750=) c.3410T>C c.1397T>C n.1015T>C c.5712T>C (p.Asp1904=) c.5772T>C (p.Asp1924=) n.105T>C c.5727T>C (p.Asp1909=) c.5808T>C (p.Asp1936=) c.5763T>C (p.Asp1921=) c.5748T>C (p.Asp1916=) | |
| 9 | g.128621211T>G | CA375080006 | SPTAN1 | c.5823T>G (p.Asp1941Glu) c.5787T>G (p.Asp1929Glu) c.5250T>G (p.Asp1750Glu) c.3410T>G c.1397T>G n.1015T>G c.5712T>G (p.Asp1904Glu) c.5772T>G (p.Asp1924Glu) n.105T>G c.5727T>G (p.Asp1909Glu) c.5808T>G (p.Asp1936Glu) c.5763T>G (p.Asp1921Glu) c.5748T>G (p.Asp1916Glu) | |
| 9 | g.128621212C>A | CA375080009 | SPTAN1 | c.5824C>A (p.Arg1942Ser) c.5788C>A (p.Arg1930Ser) c.5251C>A (p.Arg1751Ser) c.3411C>A c.1398C>A n.1016C>A c.5713C>A (p.Arg1905Ser) c.5773C>A (p.Arg1925Ser) n.106C>A c.5728C>A (p.Arg1910Ser) c.5809C>A (p.Arg1937Ser) c.5764C>A (p.Arg1922Ser) c.5749C>A (p.Arg1917Ser) | |
| 9 | g.128621212C= | CA1880365752 | SPTAN1 | c.5824C= (p.Arg1942=) c.5788C= (p.Arg1930=) c.5251C= (p.Arg1751=) c.3411C= c.1398C= n.1016C= c.5713C= (p.Arg1905=) c.5773C= (p.Arg1925=) n.106C= c.5728C= (p.Arg1910=) c.5809C= (p.Arg1937=) c.5764C= (p.Arg1922=) c.5749C= (p.Arg1917=) | |
| 9 | g.128621212C>G | CA375080011 | SPTAN1 | c.5824C>G (p.Arg1942Gly) c.5788C>G (p.Arg1930Gly) c.5251C>G (p.Arg1751Gly) c.3411C>G c.1398C>G n.1016C>G c.5713C>G (p.Arg1905Gly) c.5773C>G (p.Arg1925Gly) n.106C>G c.5728C>G (p.Arg1910Gly) c.5809C>G (p.Arg1937Gly) c.5764C>G (p.Arg1922Gly) c.5749C>G (p.Arg1917Gly) | |
| 9 | g.128621212C>T | CA200403069 | SPTAN1 | c.5824C>T (p.Arg1942Cys) c.5788C>T (p.Arg1930Cys) c.5251C>T (p.Arg1751Cys) c.3411C>T c.1398C>T n.1016C>T c.5713C>T (p.Arg1905Cys) c.5773C>T (p.Arg1925Cys) n.106C>T c.5728C>T (p.Arg1910Cys) c.5809C>T (p.Arg1937Cys) c.5764C>T (p.Arg1922Cys) c.5749C>T (p.Arg1917Cys) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.128621213G>A | CA5265560 | SPTAN1 | c.5825G>A (p.Arg1942His) c.5789G>A (p.Arg1930His) c.5252G>A (p.Arg1751His) c.3412G>A c.1399G>A n.1017G>A c.5714G>A (p.Arg1905His) c.5774G>A (p.Arg1925His) n.107G>A c.5729G>A (p.Arg1910His) c.5810G>A (p.Arg1937His) c.5765G>A (p.Arg1922His) c.5750G>A (p.Arg1917His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128621213G>C | CA375080017 | SPTAN1 | c.5825G>C (p.Arg1942Pro) c.5789G>C (p.Arg1930Pro) c.5252G>C (p.Arg1751Pro) c.3412G>C c.1399G>C n.1017G>C c.5714G>C (p.Arg1905Pro) c.5774G>C (p.Arg1925Pro) n.107G>C c.5729G>C (p.Arg1910Pro) c.5810G>C (p.Arg1937Pro) c.5765G>C (p.Arg1922Pro) c.5750G>C (p.Arg1917Pro) |