UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.7752502A>C | CA338145370 | CAMTA1 | c.1681A>C (p.Ile561Leu) c.2020A>C (p.Ile674Leu) c.4588A>C (p.Ile1530Leu) c.2249A>C c.*4460A>C (n.*4460A>C) c.4519A>C (p.Ile1507Leu) c.4516A>C (p.Ile1506Leu) c.2773A>C (p.Ile925Leu) c.1978A>C (p.Ile660Leu) c.1999A>C (p.Ile667Leu) n.1101A>C c.1639A>C (p.Ile547Leu) c.2273A>C n.3323A>C n.2607A>C c.611A>C c.131A>C c.4927A>C (p.Ile1643Leu) c.619A>C (p.Ile207Leu) c.624A>C c.1818A>C c.4948A>C (p.Ile1650Leu) c.4936A>C (p.Ile1646Leu) c.4876A>C (p.Ile1626Leu) c.4858A>C (p.Ile1620Leu) c.4609A>C (p.Ile1537Leu) c.4837A>C (p.Ile1613Leu) c.4603A>C (p.Ile1535Leu) c.2056A>C (p.Ile686Leu) c.1660A>C (p.Ile554Leu) c.2209A>C (p.Ile737Leu) c.2188A>C (p.Ile730Leu) | |
| 1 | g.7752502A>G | CA338145374 | CAMTA1 | c.1681A>G (p.Ile561Val) c.2020A>G (p.Ile674Val) c.4588A>G (p.Ile1530Val) c.2249A>G c.*4460A>G (n.*4460A>G) c.4519A>G (p.Ile1507Val) c.4516A>G (p.Ile1506Val) c.2773A>G (p.Ile925Val) c.1978A>G (p.Ile660Val) c.1999A>G (p.Ile667Val) n.1101A>G c.1639A>G (p.Ile547Val) c.2273A>G n.3323A>G n.2607A>G c.611A>G c.131A>G c.4927A>G (p.Ile1643Val) c.619A>G (p.Ile207Val) c.624A>G c.1818A>G c.4948A>G (p.Ile1650Val) c.4936A>G (p.Ile1646Val) c.4876A>G (p.Ile1626Val) c.4858A>G (p.Ile1620Val) c.4609A>G (p.Ile1537Val) c.4837A>G (p.Ile1613Val) c.4603A>G (p.Ile1535Val) c.2056A>G (p.Ile686Val) c.1660A>G (p.Ile554Val) c.2209A>G (p.Ile737Val) c.2188A>G (p.Ile730Val) | |
| 1 | g.7752502A>T | CA338145378 | CAMTA1 | c.1681A>T (p.Ile561Leu) c.2020A>T (p.Ile674Leu) c.4588A>T (p.Ile1530Leu) c.2249A>T c.*4460A>T (n.*4460A>T) c.4519A>T (p.Ile1507Leu) c.4516A>T (p.Ile1506Leu) c.2773A>T (p.Ile925Leu) c.1978A>T (p.Ile660Leu) c.1999A>T (p.Ile667Leu) n.1101A>T c.1639A>T (p.Ile547Leu) c.2273A>T n.3323A>T n.2607A>T c.611A>T c.131A>T c.4927A>T (p.Ile1643Leu) c.619A>T (p.Ile207Leu) c.624A>T c.1818A>T c.4948A>T (p.Ile1650Leu) c.4936A>T (p.Ile1646Leu) c.4876A>T (p.Ile1626Leu) c.4858A>T (p.Ile1620Leu) c.4609A>T (p.Ile1537Leu) c.4837A>T (p.Ile1613Leu) c.4603A>T (p.Ile1535Leu) c.2056A>T (p.Ile686Leu) c.1660A>T (p.Ile554Leu) c.2209A>T (p.Ile737Leu) c.2188A>T (p.Ile730Leu) | |
| 1 | g.7752503T>A | CA338145381 | CAMTA1 | c.1682T>A (p.Ile561Lys) c.2021T>A (p.Ile674Lys) c.4589T>A (p.Ile1530Lys) c.2250T>A c.*4461T>A (n.*4461T>A) c.4520T>A (p.Ile1507Lys) c.4517T>A (p.Ile1506Lys) c.2774T>A (p.Ile925Lys) c.1979T>A (p.Ile660Lys) c.2000T>A (p.Ile667Lys) n.1102T>A c.1640T>A (p.Ile547Lys) c.2274T>A n.3324T>A n.2608T>A c.612T>A c.132T>A c.4928T>A (p.Ile1643Lys) c.620T>A (p.Ile207Lys) c.625T>A c.1819T>A c.4949T>A (p.Ile1650Lys) c.4937T>A (p.Ile1646Lys) c.4877T>A (p.Ile1626Lys) c.4859T>A (p.Ile1620Lys) c.4610T>A (p.Ile1537Lys) c.4838T>A (p.Ile1613Lys) c.4604T>A (p.Ile1535Lys) c.2057T>A (p.Ile686Lys) c.1661T>A (p.Ile554Lys) c.2210T>A (p.Ile737Lys) c.2189T>A (p.Ile730Lys) | |
| 1 | g.7752503T>C | CA338145385 | CAMTA1 | c.1682T>C (p.Ile561Thr) c.2021T>C (p.Ile674Thr) c.4589T>C (p.Ile1530Thr) c.2250T>C c.*4461T>C (n.*4461T>C) c.4520T>C (p.Ile1507Thr) c.4517T>C (p.Ile1506Thr) c.2774T>C (p.Ile925Thr) c.1979T>C (p.Ile660Thr) c.2000T>C (p.Ile667Thr) n.1102T>C c.1640T>C (p.Ile547Thr) c.2274T>C n.3324T>C n.2608T>C c.612T>C c.132T>C c.4928T>C (p.Ile1643Thr) c.620T>C (p.Ile207Thr) c.625T>C c.1819T>C c.4949T>C (p.Ile1650Thr) c.4937T>C (p.Ile1646Thr) c.4877T>C (p.Ile1626Thr) c.4859T>C (p.Ile1620Thr) c.4610T>C (p.Ile1537Thr) c.4838T>C (p.Ile1613Thr) c.4604T>C (p.Ile1535Thr) c.2057T>C (p.Ile686Thr) c.1661T>C (p.Ile554Thr) c.2210T>C (p.Ile737Thr) c.2189T>C (p.Ile730Thr) | gnomAD v4 |
| 1 | g.7752503T>G | CA338145390 | CAMTA1 | c.1682T>G (p.Ile561Arg) c.2021T>G (p.Ile674Arg) c.4589T>G (p.Ile1530Arg) c.2250T>G c.*4461T>G (n.*4461T>G) c.4520T>G (p.Ile1507Arg) c.4517T>G (p.Ile1506Arg) c.2774T>G (p.Ile925Arg) c.1979T>G (p.Ile660Arg) c.2000T>G (p.Ile667Arg) n.1102T>G c.1640T>G (p.Ile547Arg) c.2274T>G n.3324T>G n.2608T>G c.612T>G c.132T>G c.4928T>G (p.Ile1643Arg) c.620T>G (p.Ile207Arg) c.625T>G c.1819T>G c.4949T>G (p.Ile1650Arg) c.4937T>G (p.Ile1646Arg) c.4877T>G (p.Ile1626Arg) c.4859T>G (p.Ile1620Arg) c.4610T>G (p.Ile1537Arg) c.4838T>G (p.Ile1613Arg) c.4604T>G (p.Ile1535Arg) c.2057T>G (p.Ile686Arg) c.1661T>G (p.Ile554Arg) c.2210T>G (p.Ile737Arg) c.2189T>G (p.Ile730Arg) | |
| 1 | g.7752504A= | CA1152049625 | CAMTA1 | c.1683A= (p.Ile561=) c.2022A= (p.Ile674=) c.4590A= (p.Ile1530=) c.2251A= c.*4462A= (n.*4462A=) c.4521A= (p.Ile1507=) c.4518A= (p.Ile1506=) c.2775A= (p.Ile925=) c.1980A= (p.Ile660=) c.2001A= (p.Ile667=) n.1103A= c.1641A= (p.Ile547=) c.2275A= n.3325A= n.2609A= c.613A= c.133A= c.4929A= (p.Ile1643=) c.621A= (p.Ile207=) c.626A= c.1820A= c.4950A= (p.Ile1650=) c.4938A= (p.Ile1646=) c.4878A= (p.Ile1626=) c.4860A= (p.Ile1620=) c.4611A= (p.Ile1537=) c.4839A= (p.Ile1613=) c.4605A= (p.Ile1535=) c.2058A= (p.Ile686=) c.1662A= (p.Ile554=) c.2211A= (p.Ile737=) c.2190A= (p.Ile730=) | |
| 1 | g.7752504A>C | CA415826023 | CAMTA1 | c.1683A>C (p.Ile561=) c.2022A>C (p.Ile674=) c.4590A>C (p.Ile1530=) c.2251A>C c.*4462A>C (n.*4462A>C) c.4521A>C (p.Ile1507=) c.4518A>C (p.Ile1506=) c.2775A>C (p.Ile925=) c.1980A>C (p.Ile660=) c.2001A>C (p.Ile667=) n.1103A>C c.1641A>C (p.Ile547=) c.2275A>C n.3325A>C n.2609A>C c.613A>C c.133A>C c.4929A>C (p.Ile1643=) c.621A>C (p.Ile207=) c.626A>C c.1820A>C c.4950A>C (p.Ile1650=) c.4938A>C (p.Ile1646=) c.4878A>C (p.Ile1626=) c.4860A>C (p.Ile1620=) c.4611A>C (p.Ile1537=) c.4839A>C (p.Ile1613=) c.4605A>C (p.Ile1535=) c.2058A>C (p.Ile686=) c.1662A>C (p.Ile554=) c.2211A>C (p.Ile737=) c.2190A>C (p.Ile730=) | |
| 1 | g.7752504A>G | CA338145395 | CAMTA1 | c.1683A>G (p.Ile561Met) c.2022A>G (p.Ile674Met) c.4590A>G (p.Ile1530Met) c.2251A>G c.*4462A>G (n.*4462A>G) c.4521A>G (p.Ile1507Met) c.4518A>G (p.Ile1506Met) c.2775A>G (p.Ile925Met) c.1980A>G (p.Ile660Met) c.2001A>G (p.Ile667Met) n.1103A>G c.1641A>G (p.Ile547Met) c.2275A>G n.3325A>G n.2609A>G c.613A>G c.133A>G c.4929A>G (p.Ile1643Met) c.621A>G (p.Ile207Met) c.626A>G c.1820A>G c.4950A>G (p.Ile1650Met) c.4938A>G (p.Ile1646Met) c.4878A>G (p.Ile1626Met) c.4860A>G (p.Ile1620Met) c.4611A>G (p.Ile1537Met) c.4839A>G (p.Ile1613Met) c.4605A>G (p.Ile1535Met) c.2058A>G (p.Ile686Met) c.1662A>G (p.Ile554Met) c.2211A>G (p.Ile737Met) c.2190A>G (p.Ile730Met) | |
| 1 | g.7752504A>T | CA567286 | CAMTA1 | c.1683A>T (p.Ile561=) c.2022A>T (p.Ile674=) c.4590A>T (p.Ile1530=) c.2251A>T c.*4462A>T (n.*4462A>T) c.4521A>T (p.Ile1507=) c.4518A>T (p.Ile1506=) c.2775A>T (p.Ile925=) c.1980A>T (p.Ile660=) c.2001A>T (p.Ile667=) n.1103A>T c.1641A>T (p.Ile547=) c.2275A>T n.3325A>T n.2609A>T c.613A>T c.133A>T c.4929A>T (p.Ile1643=) c.621A>T (p.Ile207=) c.626A>T c.1820A>T c.4950A>T (p.Ile1650=) c.4938A>T (p.Ile1646=) c.4878A>T (p.Ile1626=) c.4860A>T (p.Ile1620=) c.4611A>T (p.Ile1537=) c.4839A>T (p.Ile1613=) c.4605A>T (p.Ile1535=) c.2058A>T (p.Ile686=) c.1662A>T (p.Ile554=) c.2211A>T (p.Ile737=) c.2190A>T (p.Ile730=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7752505A= | CA1152049631 | CAMTA1 | c.1684A= (p.Met562=) c.2023A= (p.Met675=) c.4591A= (p.Met1531=) c.2252A= c.*4463A= (n.*4463A=) c.4522A= (p.Met1508=) c.4519A= (p.Met1507=) c.2776A= (p.Met926=) c.1981A= (p.Met661=) c.2002A= (p.Met668=) n.1104A= c.1642A= (p.Met548=) c.2276A= n.3326A= n.2610A= c.614A= c.134A= c.4930A= (p.Met1644=) c.622A= (p.Met208=) c.627A= c.1821A= c.4951A= (p.Met1651=) c.4939A= (p.Met1647=) c.4879A= (p.Met1627=) c.4861A= (p.Met1621=) c.4612A= (p.Met1538=) c.4840A= (p.Met1614=) c.4606A= (p.Met1536=) c.2059A= (p.Met687=) c.1663A= (p.Met555=) c.2212A= (p.Met738=) c.2191A= (p.Met731=) | |
| 1 | g.7752505A>C | CA338145404 | CAMTA1 | c.1684A>C (p.Met562Leu) c.2023A>C (p.Met675Leu) c.4591A>C (p.Met1531Leu) c.2252A>C c.*4463A>C (n.*4463A>C) c.4522A>C (p.Met1508Leu) c.4519A>C (p.Met1507Leu) c.2776A>C (p.Met926Leu) c.1981A>C (p.Met661Leu) c.2002A>C (p.Met668Leu) n.1104A>C c.1642A>C (p.Met548Leu) c.2276A>C n.3326A>C n.2610A>C c.614A>C c.134A>C c.4930A>C (p.Met1644Leu) c.622A>C (p.Met208Leu) c.627A>C c.1821A>C c.4951A>C (p.Met1651Leu) c.4939A>C (p.Met1647Leu) c.4879A>C (p.Met1627Leu) c.4861A>C (p.Met1621Leu) c.4612A>C (p.Met1538Leu) c.4840A>C (p.Met1614Leu) c.4606A>C (p.Met1536Leu) c.2059A>C (p.Met687Leu) c.1663A>C (p.Met555Leu) c.2212A>C (p.Met738Leu) c.2191A>C (p.Met731Leu) | |
| 1 | g.7752505A>G | CA338145407 | CAMTA1 | c.1684A>G (p.Met562Val) c.2023A>G (p.Met675Val) c.4591A>G (p.Met1531Val) c.2252A>G c.*4463A>G (n.*4463A>G) c.4522A>G (p.Met1508Val) c.4519A>G (p.Met1507Val) c.2776A>G (p.Met926Val) c.1981A>G (p.Met661Val) c.2002A>G (p.Met668Val) n.1104A>G c.1642A>G (p.Met548Val) c.2276A>G n.3326A>G n.2610A>G c.614A>G c.134A>G c.4930A>G (p.Met1644Val) c.622A>G (p.Met208Val) c.627A>G c.1821A>G c.4951A>G (p.Met1651Val) c.4939A>G (p.Met1647Val) c.4879A>G (p.Met1627Val) c.4861A>G (p.Met1621Val) c.4612A>G (p.Met1538Val) c.4840A>G (p.Met1614Val) c.4606A>G (p.Met1536Val) c.2059A>G (p.Met687Val) c.1663A>G (p.Met555Val) c.2212A>G (p.Met738Val) c.2191A>G (p.Met731Val) | dbSNP gnomAD v4 |
| 1 | g.7752505A>T | CA338145410 | CAMTA1 | c.1684A>T (p.Met562Leu) c.2023A>T (p.Met675Leu) c.4591A>T (p.Met1531Leu) c.2252A>T c.*4463A>T (n.*4463A>T) c.4522A>T (p.Met1508Leu) c.4519A>T (p.Met1507Leu) c.2776A>T (p.Met926Leu) c.1981A>T (p.Met661Leu) c.2002A>T (p.Met668Leu) n.1104A>T c.1642A>T (p.Met548Leu) c.2276A>T n.3326A>T n.2610A>T c.614A>T c.134A>T c.4930A>T (p.Met1644Leu) c.622A>T (p.Met208Leu) c.627A>T c.1821A>T c.4951A>T (p.Met1651Leu) c.4939A>T (p.Met1647Leu) c.4879A>T (p.Met1627Leu) c.4861A>T (p.Met1621Leu) c.4612A>T (p.Met1538Leu) c.4840A>T (p.Met1614Leu) c.4606A>T (p.Met1536Leu) c.2059A>T (p.Met687Leu) c.1663A>T (p.Met555Leu) c.2212A>T (p.Met738Leu) c.2191A>T (p.Met731Leu) | |
| 1 | g.7752506T>A | CA338145413 | CAMTA1 | c.1685T>A (p.Met562Lys) c.2024T>A (p.Met675Lys) c.4592T>A (p.Met1531Lys) c.2253T>A c.*4464T>A (n.*4464T>A) c.4523T>A (p.Met1508Lys) c.4520T>A (p.Met1507Lys) c.2777T>A (p.Met926Lys) c.1982T>A (p.Met661Lys) c.2003T>A (p.Met668Lys) n.1105T>A c.1643T>A (p.Met548Lys) c.2277T>A n.3327T>A n.2611T>A c.615T>A c.135T>A c.4931T>A (p.Met1644Lys) c.623T>A (p.Met208Lys) c.628T>A c.1822T>A c.4952T>A (p.Met1651Lys) c.4940T>A (p.Met1647Lys) c.4880T>A (p.Met1627Lys) c.4862T>A (p.Met1621Lys) c.4613T>A (p.Met1538Lys) c.4841T>A (p.Met1614Lys) c.4607T>A (p.Met1536Lys) c.2060T>A (p.Met687Lys) c.1664T>A (p.Met555Lys) c.2213T>A (p.Met738Lys) c.2192T>A (p.Met731Lys) | |
| 1 | g.7752506T>C | CA338145417 | CAMTA1 | c.1685T>C (p.Met562Thr) c.2024T>C (p.Met675Thr) c.4592T>C (p.Met1531Thr) c.2253T>C c.*4464T>C (n.*4464T>C) c.4523T>C (p.Met1508Thr) c.4520T>C (p.Met1507Thr) c.2777T>C (p.Met926Thr) c.1982T>C (p.Met661Thr) c.2003T>C (p.Met668Thr) n.1105T>C c.1643T>C (p.Met548Thr) c.2277T>C n.3327T>C n.2611T>C c.615T>C c.135T>C c.4931T>C (p.Met1644Thr) c.623T>C (p.Met208Thr) c.628T>C c.1822T>C c.4952T>C (p.Met1651Thr) c.4940T>C (p.Met1647Thr) c.4880T>C (p.Met1627Thr) c.4862T>C (p.Met1621Thr) c.4613T>C (p.Met1538Thr) c.4841T>C (p.Met1614Thr) c.4607T>C (p.Met1536Thr) c.2060T>C (p.Met687Thr) c.1664T>C (p.Met555Thr) c.2213T>C (p.Met738Thr) c.2192T>C (p.Met731Thr) | |
| 1 | g.7752506T>G | CA338145420 | CAMTA1 | c.1685T>G (p.Met562Arg) c.2024T>G (p.Met675Arg) c.4592T>G (p.Met1531Arg) c.2253T>G c.*4464T>G (n.*4464T>G) c.4523T>G (p.Met1508Arg) c.4520T>G (p.Met1507Arg) c.2777T>G (p.Met926Arg) c.1982T>G (p.Met661Arg) c.2003T>G (p.Met668Arg) n.1105T>G c.1643T>G (p.Met548Arg) c.2277T>G n.3327T>G n.2611T>G c.615T>G c.135T>G c.4931T>G (p.Met1644Arg) c.623T>G (p.Met208Arg) c.628T>G c.1822T>G c.4952T>G (p.Met1651Arg) c.4940T>G (p.Met1647Arg) c.4880T>G (p.Met1627Arg) c.4862T>G (p.Met1621Arg) c.4613T>G (p.Met1538Arg) c.4841T>G (p.Met1614Arg) c.4607T>G (p.Met1536Arg) c.2060T>G (p.Met687Arg) c.1664T>G (p.Met555Arg) c.2213T>G (p.Met738Arg) c.2192T>G (p.Met731Arg) | |
| 1 | g.7752507G>A | CA338145428 | CAMTA1 | c.1686G>A (p.Met562Ile) c.2025G>A (p.Met675Ile) c.4593G>A (p.Met1531Ile) c.2254G>A c.*4465G>A (n.*4465G>A) c.4524G>A (p.Met1508Ile) c.4521G>A (p.Met1507Ile) c.2778G>A (p.Met926Ile) c.1983G>A (p.Met661Ile) c.2004G>A (p.Met668Ile) n.1106G>A c.1644G>A (p.Met548Ile) c.2278G>A n.3328G>A n.2612G>A c.616G>A c.136G>A c.4932G>A (p.Met1644Ile) c.624G>A (p.Met208Ile) c.629G>A c.1823G>A c.4953G>A (p.Met1651Ile) c.4941G>A (p.Met1647Ile) c.4881G>A (p.Met1627Ile) c.4863G>A (p.Met1621Ile) c.4614G>A (p.Met1538Ile) c.4842G>A (p.Met1614Ile) c.4608G>A (p.Met1536Ile) c.2061G>A (p.Met687Ile) c.1665G>A (p.Met555Ile) c.2214G>A (p.Met738Ile) c.2193G>A (p.Met731Ile) | dbSNP |
| 1 | g.7752507G>C | CA338145430 | CAMTA1 | c.1686G>C (p.Met562Ile) c.2025G>C (p.Met675Ile) c.4593G>C (p.Met1531Ile) c.2254G>C c.*4465G>C (n.*4465G>C) c.4524G>C (p.Met1508Ile) c.4521G>C (p.Met1507Ile) c.2778G>C (p.Met926Ile) c.1983G>C (p.Met661Ile) c.2004G>C (p.Met668Ile) n.1106G>C c.1644G>C (p.Met548Ile) c.2278G>C n.3328G>C n.2612G>C c.616G>C c.136G>C c.4932G>C (p.Met1644Ile) c.624G>C (p.Met208Ile) c.629G>C c.1823G>C c.4953G>C (p.Met1651Ile) c.4941G>C (p.Met1647Ile) c.4881G>C (p.Met1627Ile) c.4863G>C (p.Met1621Ile) c.4614G>C (p.Met1538Ile) c.4842G>C (p.Met1614Ile) c.4608G>C (p.Met1536Ile) c.2061G>C (p.Met687Ile) c.1665G>C (p.Met555Ile) c.2214G>C (p.Met738Ile) c.2193G>C (p.Met731Ile) | |
| 1 | g.7752507G= | CA1152049633 | CAMTA1 | c.1686G= (p.Met562=) c.2025G= (p.Met675=) c.4593G= (p.Met1531=) c.2254G= c.*4465G= (n.*4465G=) c.4524G= (p.Met1508=) c.4521G= (p.Met1507=) c.2778G= (p.Met926=) c.1983G= (p.Met661=) c.2004G= (p.Met668=) n.1106G= c.1644G= (p.Met548=) c.2278G= n.3328G= n.2612G= c.616G= c.136G= c.4932G= (p.Met1644=) c.624G= (p.Met208=) c.629G= c.1823G= c.4953G= (p.Met1651=) c.4941G= (p.Met1647=) c.4881G= (p.Met1627=) c.4863G= (p.Met1621=) c.4614G= (p.Met1538=) c.4842G= (p.Met1614=) c.4608G= (p.Met1536=) c.2061G= (p.Met687=) c.1665G= (p.Met555=) c.2214G= (p.Met738=) c.2193G= (p.Met731=) | |
| 1 | g.7752507G>T | CA338145425 | CAMTA1 | c.1686G>T (p.Met562Ile) c.2025G>T (p.Met675Ile) c.4593G>T (p.Met1531Ile) c.2254G>T c.*4465G>T (n.*4465G>T) c.4524G>T (p.Met1508Ile) c.4521G>T (p.Met1507Ile) c.2778G>T (p.Met926Ile) c.1983G>T (p.Met661Ile) c.2004G>T (p.Met668Ile) n.1106G>T c.1644G>T (p.Met548Ile) c.2278G>T n.3328G>T n.2612G>T c.616G>T c.136G>T c.4932G>T (p.Met1644Ile) c.624G>T (p.Met208Ile) c.629G>T c.1823G>T c.4953G>T (p.Met1651Ile) c.4941G>T (p.Met1647Ile) c.4881G>T (p.Met1627Ile) c.4863G>T (p.Met1621Ile) c.4614G>T (p.Met1538Ile) c.4842G>T (p.Met1614Ile) c.4608G>T (p.Met1536Ile) c.2061G>T (p.Met687Ile) c.1665G>T (p.Met555Ile) c.2214G>T (p.Met738Ile) c.2193G>T (p.Met731Ile) | |
| 1 | g.7752508A>C | CA415826027 | CAMTA1 | c.1687A>C (p.Arg563=) c.2026A>C (p.Arg676=) c.4594A>C (p.Arg1532=) c.2255A>C c.*4466A>C (n.*4466A>C) c.4525A>C (p.Arg1509=) c.4522A>C (p.Arg1508=) c.2779A>C (p.Arg927=) c.1984A>C (p.Arg662=) c.2005A>C (p.Arg669=) n.1107A>C c.1645A>C (p.Arg549=) c.2279A>C n.3329A>C n.2613A>C c.617A>C c.137A>C c.4933A>C (p.Arg1645=) c.625A>C (p.Arg209=) c.630A>C c.1824A>C c.4954A>C (p.Arg1652=) c.4942A>C (p.Arg1648=) c.4882A>C (p.Arg1628=) c.4864A>C (p.Arg1622=) c.4615A>C (p.Arg1539=) c.4843A>C (p.Arg1615=) c.4609A>C (p.Arg1537=) c.2062A>C (p.Arg688=) c.1666A>C (p.Arg556=) c.2215A>C (p.Arg739=) c.2194A>C (p.Arg732=) | gnomAD v4 |
| 1 | g.7752508A>G | CA338145433 | CAMTA1 | c.1687A>G (p.Arg563Gly) c.2026A>G (p.Arg676Gly) c.4594A>G (p.Arg1532Gly) c.2255A>G c.*4466A>G (n.*4466A>G) c.4525A>G (p.Arg1509Gly) c.4522A>G (p.Arg1508Gly) c.2779A>G (p.Arg927Gly) c.1984A>G (p.Arg662Gly) c.2005A>G (p.Arg669Gly) n.1107A>G c.1645A>G (p.Arg549Gly) c.2279A>G n.3329A>G n.2613A>G c.617A>G c.137A>G c.4933A>G (p.Arg1645Gly) c.625A>G (p.Arg209Gly) c.630A>G c.1824A>G c.4954A>G (p.Arg1652Gly) c.4942A>G (p.Arg1648Gly) c.4882A>G (p.Arg1628Gly) c.4864A>G (p.Arg1622Gly) c.4615A>G (p.Arg1539Gly) c.4843A>G (p.Arg1615Gly) c.4609A>G (p.Arg1537Gly) c.2062A>G (p.Arg688Gly) c.1666A>G (p.Arg556Gly) c.2215A>G (p.Arg739Gly) c.2194A>G (p.Arg732Gly) | |
| 1 | g.7752508A>T | CA338145437 | CAMTA1 | c.1687A>T (p.Arg563Trp) c.2026A>T (p.Arg676Trp) c.4594A>T (p.Arg1532Trp) c.2255A>T c.*4466A>T (n.*4466A>T) c.4525A>T (p.Arg1509Trp) c.4522A>T (p.Arg1508Trp) c.2779A>T (p.Arg927Trp) c.1984A>T (p.Arg662Trp) c.2005A>T (p.Arg669Trp) n.1107A>T c.1645A>T (p.Arg549Trp) c.2279A>T n.3329A>T n.2613A>T c.617A>T c.137A>T c.4933A>T (p.Arg1645Trp) c.625A>T (p.Arg209Trp) c.630A>T c.1824A>T c.4954A>T (p.Arg1652Trp) c.4942A>T (p.Arg1648Trp) c.4882A>T (p.Arg1628Trp) c.4864A>T (p.Arg1622Trp) c.4615A>T (p.Arg1539Trp) c.4843A>T (p.Arg1615Trp) c.4609A>T (p.Arg1537Trp) c.2062A>T (p.Arg688Trp) c.1666A>T (p.Arg556Trp) c.2215A>T (p.Arg739Trp) c.2194A>T (p.Arg732Trp) | |
| 1 | g.7752509G>A | CA567287 | CAMTA1 | c.1688G>A (p.Arg563Lys) c.2027G>A (p.Arg676Lys) c.4595G>A (p.Arg1532Lys) c.2256G>A c.*4467G>A (n.*4467G>A) c.4526G>A (p.Arg1509Lys) c.4523G>A (p.Arg1508Lys) c.2780G>A (p.Arg927Lys) c.1985G>A (p.Arg662Lys) c.2006G>A (p.Arg669Lys) n.1108G>A c.1646G>A (p.Arg549Lys) c.2280G>A n.3330G>A n.2614G>A c.618G>A c.138G>A c.4934G>A (p.Arg1645Lys) c.626G>A (p.Arg209Lys) c.631G>A c.1825G>A c.4955G>A (p.Arg1652Lys) c.4943G>A (p.Arg1648Lys) c.4883G>A (p.Arg1628Lys) c.4865G>A (p.Arg1622Lys) c.4616G>A (p.Arg1539Lys) c.4844G>A (p.Arg1615Lys) c.4610G>A (p.Arg1537Lys) c.2063G>A (p.Arg688Lys) c.1667G>A (p.Arg556Lys) c.2216G>A (p.Arg739Lys) c.2195G>A (p.Arg732Lys) | dbSNP ExAC |
| 1 | g.7752509G>C | CA338145450 | CAMTA1 | c.1688G>C (p.Arg563Thr) c.2027G>C (p.Arg676Thr) c.4595G>C (p.Arg1532Thr) c.2256G>C c.*4467G>C (n.*4467G>C) c.4526G>C (p.Arg1509Thr) c.4523G>C (p.Arg1508Thr) c.2780G>C (p.Arg927Thr) c.1985G>C (p.Arg662Thr) c.2006G>C (p.Arg669Thr) n.1108G>C c.1646G>C (p.Arg549Thr) c.2280G>C n.3330G>C n.2614G>C c.618G>C c.138G>C c.4934G>C (p.Arg1645Thr) c.626G>C (p.Arg209Thr) c.631G>C c.1825G>C c.4955G>C (p.Arg1652Thr) c.4943G>C (p.Arg1648Thr) c.4883G>C (p.Arg1628Thr) c.4865G>C (p.Arg1622Thr) c.4616G>C (p.Arg1539Thr) c.4844G>C (p.Arg1615Thr) c.4610G>C (p.Arg1537Thr) c.2063G>C (p.Arg688Thr) c.1667G>C (p.Arg556Thr) c.2216G>C (p.Arg739Thr) c.2195G>C (p.Arg732Thr) | |
| 1 | g.7752509G= | CA1142348976 | CAMTA1 | c.1688G= (p.Arg563=) c.2027G= (p.Arg676=) c.4595G= (p.Arg1532=) c.2256G= c.*4467G= (n.*4467G=) c.4526G= (p.Arg1509=) c.4523G= (p.Arg1508=) c.2780G= (p.Arg927=) c.1985G= (p.Arg662=) c.2006G= (p.Arg669=) n.1108G= c.1646G= (p.Arg549=) c.2280G= n.3330G= n.2614G= c.618G= c.138G= c.4934G= (p.Arg1645=) c.626G= (p.Arg209=) c.631G= c.1825G= c.4955G= (p.Arg1652=) c.4943G= (p.Arg1648=) c.4883G= (p.Arg1628=) c.4865G= (p.Arg1622=) c.4616G= (p.Arg1539=) c.4844G= (p.Arg1615=) c.4610G= (p.Arg1537=) c.2063G= (p.Arg688=) c.1667G= (p.Arg556=) c.2216G= (p.Arg739=) c.2195G= (p.Arg732=) | |
| 1 | g.7752509G>T | CA338145445 | CAMTA1 | c.1688G>T (p.Arg563Met) c.2027G>T (p.Arg676Met) c.4595G>T (p.Arg1532Met) c.2256G>T c.*4467G>T (n.*4467G>T) c.4526G>T (p.Arg1509Met) c.4523G>T (p.Arg1508Met) c.2780G>T (p.Arg927Met) c.1985G>T (p.Arg662Met) c.2006G>T (p.Arg669Met) n.1108G>T c.1646G>T (p.Arg549Met) c.2280G>T n.3330G>T n.2614G>T c.618G>T c.138G>T c.4934G>T (p.Arg1645Met) c.626G>T (p.Arg209Met) c.631G>T c.1825G>T c.4955G>T (p.Arg1652Met) c.4943G>T (p.Arg1648Met) c.4883G>T (p.Arg1628Met) c.4865G>T (p.Arg1622Met) c.4616G>T (p.Arg1539Met) c.4844G>T (p.Arg1615Met) c.4610G>T (p.Arg1537Met) c.2063G>T (p.Arg688Met) c.1667G>T (p.Arg556Met) c.2216G>T (p.Arg739Met) c.2195G>T (p.Arg732Met) | |
| 1 | g.7752510G>A | CA415826031 | CAMTA1 | c.1689G>A (p.Arg563=) c.2028G>A (p.Arg676=) c.4596G>A (p.Arg1532=) c.2257G>A c.*4468G>A (n.*4468G>A) c.4527G>A (p.Arg1509=) c.4524G>A (p.Arg1508=) c.2781G>A (p.Arg927=) c.1986G>A (p.Arg662=) c.2007G>A (p.Arg669=) n.1109G>A c.1647G>A (p.Arg549=) c.2281G>A n.3331G>A n.2615G>A c.619G>A c.139G>A c.4935G>A (p.Arg1645=) c.627G>A (p.Arg209=) c.632G>A c.1826G>A c.4956G>A (p.Arg1652=) c.4944G>A (p.Arg1648=) c.4884G>A (p.Arg1628=) c.4866G>A (p.Arg1622=) c.4617G>A (p.Arg1539=) c.4845G>A (p.Arg1615=) c.4611G>A (p.Arg1537=) c.2064G>A (p.Arg688=) c.1668G>A (p.Arg556=) c.2217G>A (p.Arg739=) c.2196G>A (p.Arg732=) | gnomAD v4 |
| 1 | g.7752510G>C | CA338145454 | CAMTA1 | c.1689G>C (p.Arg563Ser) c.2028G>C (p.Arg676Ser) c.4596G>C (p.Arg1532Ser) c.2257G>C c.*4468G>C (n.*4468G>C) c.4527G>C (p.Arg1509Ser) c.4524G>C (p.Arg1508Ser) c.2781G>C (p.Arg927Ser) c.1986G>C (p.Arg662Ser) c.2007G>C (p.Arg669Ser) n.1109G>C c.1647G>C (p.Arg549Ser) c.2281G>C n.3331G>C n.2615G>C c.619G>C c.139G>C c.4935G>C (p.Arg1645Ser) c.627G>C (p.Arg209Ser) c.632G>C c.1826G>C c.4956G>C (p.Arg1652Ser) c.4944G>C (p.Arg1648Ser) c.4884G>C (p.Arg1628Ser) c.4866G>C (p.Arg1622Ser) c.4617G>C (p.Arg1539Ser) c.4845G>C (p.Arg1615Ser) c.4611G>C (p.Arg1537Ser) c.2064G>C (p.Arg688Ser) c.1668G>C (p.Arg556Ser) c.2217G>C (p.Arg739Ser) c.2196G>C (p.Arg732Ser) | gnomAD v4 |
| 1 | g.7752510G>T | CA338145455 | CAMTA1 | c.1689G>T (p.Arg563Ser) c.2028G>T (p.Arg676Ser) c.4596G>T (p.Arg1532Ser) c.2257G>T c.*4468G>T (n.*4468G>T) c.4527G>T (p.Arg1509Ser) c.4524G>T (p.Arg1508Ser) c.2781G>T (p.Arg927Ser) c.1986G>T (p.Arg662Ser) c.2007G>T (p.Arg669Ser) n.1109G>T c.1647G>T (p.Arg549Ser) c.2281G>T n.3331G>T n.2615G>T c.619G>T c.139G>T c.4935G>T (p.Arg1645Ser) c.627G>T (p.Arg209Ser) c.632G>T c.1826G>T c.4956G>T (p.Arg1652Ser) c.4944G>T (p.Arg1648Ser) c.4884G>T (p.Arg1628Ser) c.4866G>T (p.Arg1622Ser) c.4617G>T (p.Arg1539Ser) c.4845G>T (p.Arg1615Ser) c.4611G>T (p.Arg1537Ser) c.2064G>T (p.Arg688Ser) c.1668G>T (p.Arg556Ser) c.2217G>T (p.Arg739Ser) c.2196G>T (p.Arg732Ser) | |
| 1 | g.7752511T>A | CA338145460 | CAMTA1 | c.1690T>A (p.Phe564Ile) c.2029T>A (p.Phe677Ile) c.4597T>A (p.Phe1533Ile) c.2258T>A c.*4469T>A (n.*4469T>A) c.4528T>A (p.Phe1510Ile) c.4525T>A (p.Phe1509Ile) c.2782T>A (p.Phe928Ile) c.1987T>A (p.Phe663Ile) c.2008T>A (p.Phe670Ile) n.1110T>A c.1648T>A (p.Phe550Ile) c.2282T>A n.3332T>A n.2616T>A c.620T>A c.140T>A c.4936T>A (p.Phe1646Ile) c.628T>A (p.Phe210Ile) c.633T>A c.1827T>A c.4957T>A (p.Phe1653Ile) c.4945T>A (p.Phe1649Ile) c.4885T>A (p.Phe1629Ile) c.4867T>A (p.Phe1623Ile) c.4618T>A (p.Phe1540Ile) c.4846T>A (p.Phe1616Ile) c.4612T>A (p.Phe1538Ile) c.2065T>A (p.Phe689Ile) c.1669T>A (p.Phe557Ile) c.2218T>A (p.Phe740Ile) c.2197T>A (p.Phe733Ile) | |
| 1 | g.7752511T>C | CA338145468 | CAMTA1 | c.1690T>C (p.Phe564Leu) c.2029T>C (p.Phe677Leu) c.4597T>C (p.Phe1533Leu) c.2258T>C c.*4469T>C (n.*4469T>C) c.4528T>C (p.Phe1510Leu) c.4525T>C (p.Phe1509Leu) c.2782T>C (p.Phe928Leu) c.1987T>C (p.Phe663Leu) c.2008T>C (p.Phe670Leu) n.1110T>C c.1648T>C (p.Phe550Leu) c.2282T>C n.3332T>C n.2616T>C c.620T>C c.140T>C c.4936T>C (p.Phe1646Leu) c.628T>C (p.Phe210Leu) c.633T>C c.1827T>C c.4957T>C (p.Phe1653Leu) c.4945T>C (p.Phe1649Leu) c.4885T>C (p.Phe1629Leu) c.4867T>C (p.Phe1623Leu) c.4618T>C (p.Phe1540Leu) c.4846T>C (p.Phe1616Leu) c.4612T>C (p.Phe1538Leu) c.2065T>C (p.Phe689Leu) c.1669T>C (p.Phe557Leu) c.2218T>C (p.Phe740Leu) c.2197T>C (p.Phe733Leu) | |
| 1 | g.7752511T>G | CA338145465 | CAMTA1 | c.1690T>G (p.Phe564Val) c.2029T>G (p.Phe677Val) c.4597T>G (p.Phe1533Val) c.2258T>G c.*4469T>G (n.*4469T>G) c.4528T>G (p.Phe1510Val) c.4525T>G (p.Phe1509Val) c.2782T>G (p.Phe928Val) c.1987T>G (p.Phe663Val) c.2008T>G (p.Phe670Val) n.1110T>G c.1648T>G (p.Phe550Val) c.2282T>G n.3332T>G n.2616T>G c.620T>G c.140T>G c.4936T>G (p.Phe1646Val) c.628T>G (p.Phe210Val) c.633T>G c.1827T>G c.4957T>G (p.Phe1653Val) c.4945T>G (p.Phe1649Val) c.4885T>G (p.Phe1629Val) c.4867T>G (p.Phe1623Val) c.4618T>G (p.Phe1540Val) c.4846T>G (p.Phe1616Val) c.4612T>G (p.Phe1538Val) c.2065T>G (p.Phe689Val) c.1669T>G (p.Phe557Val) c.2218T>G (p.Phe740Val) c.2197T>G (p.Phe733Val) | |
| 1 | g.7752512T>A | CA338145472 | CAMTA1 | c.1691T>A (p.Phe564Tyr) c.2030T>A (p.Phe677Tyr) c.4598T>A (p.Phe1533Tyr) c.2259T>A c.*4470T>A (n.*4470T>A) c.4529T>A (p.Phe1510Tyr) c.4526T>A (p.Phe1509Tyr) c.2783T>A (p.Phe928Tyr) c.1988T>A (p.Phe663Tyr) c.2009T>A (p.Phe670Tyr) n.1111T>A c.1649T>A (p.Phe550Tyr) c.2283T>A n.3333T>A n.2617T>A c.621T>A c.141T>A c.4937T>A (p.Phe1646Tyr) c.629T>A (p.Phe210Tyr) c.634T>A c.1828T>A c.4958T>A (p.Phe1653Tyr) c.4946T>A (p.Phe1649Tyr) c.4886T>A (p.Phe1629Tyr) c.4868T>A (p.Phe1623Tyr) c.4619T>A (p.Phe1540Tyr) c.4847T>A (p.Phe1616Tyr) c.4613T>A (p.Phe1538Tyr) c.2066T>A (p.Phe689Tyr) c.1670T>A (p.Phe557Tyr) c.2219T>A (p.Phe740Tyr) c.2198T>A (p.Phe733Tyr) | |
| 1 | g.7752512T>C | CA338145477 | CAMTA1 | c.1691T>C (p.Phe564Ser) c.2030T>C (p.Phe677Ser) c.4598T>C (p.Phe1533Ser) c.2259T>C c.*4470T>C (n.*4470T>C) c.4529T>C (p.Phe1510Ser) c.4526T>C (p.Phe1509Ser) c.2783T>C (p.Phe928Ser) c.1988T>C (p.Phe663Ser) c.2009T>C (p.Phe670Ser) n.1111T>C c.1649T>C (p.Phe550Ser) c.2283T>C n.3333T>C n.2617T>C c.621T>C c.141T>C c.4937T>C (p.Phe1646Ser) c.629T>C (p.Phe210Ser) c.634T>C c.1828T>C c.4958T>C (p.Phe1653Ser) c.4946T>C (p.Phe1649Ser) c.4886T>C (p.Phe1629Ser) c.4868T>C (p.Phe1623Ser) c.4619T>C (p.Phe1540Ser) c.4847T>C (p.Phe1616Ser) c.4613T>C (p.Phe1538Ser) c.2066T>C (p.Phe689Ser) c.1670T>C (p.Phe557Ser) c.2219T>C (p.Phe740Ser) c.2198T>C (p.Phe733Ser) | |
| 1 | g.7752512T>G | CA338145475 | CAMTA1 | c.1691T>G (p.Phe564Cys) c.2030T>G (p.Phe677Cys) c.4598T>G (p.Phe1533Cys) c.2259T>G c.*4470T>G (n.*4470T>G) c.4529T>G (p.Phe1510Cys) c.4526T>G (p.Phe1509Cys) c.2783T>G (p.Phe928Cys) c.1988T>G (p.Phe663Cys) c.2009T>G (p.Phe670Cys) n.1111T>G c.1649T>G (p.Phe550Cys) c.2283T>G n.3333T>G n.2617T>G c.621T>G c.141T>G c.4937T>G (p.Phe1646Cys) c.629T>G (p.Phe210Cys) c.634T>G c.1828T>G c.4958T>G (p.Phe1653Cys) c.4946T>G (p.Phe1649Cys) c.4886T>G (p.Phe1629Cys) c.4868T>G (p.Phe1623Cys) c.4619T>G (p.Phe1540Cys) c.4847T>G (p.Phe1616Cys) c.4613T>G (p.Phe1538Cys) c.2066T>G (p.Phe689Cys) c.1670T>G (p.Phe557Cys) c.2219T>G (p.Phe740Cys) c.2198T>G (p.Phe733Cys) | ClinVar dbSNP |
| 1 | g.7752513T>A | CA338145481 | CAMTA1 | c.1692T>A (p.Phe564Leu) c.2031T>A (p.Phe677Leu) c.4599T>A (p.Phe1533Leu) c.2260T>A c.*4471T>A (n.*4471T>A) c.4530T>A (p.Phe1510Leu) c.4527T>A (p.Phe1509Leu) c.2784T>A (p.Phe928Leu) c.1989T>A (p.Phe663Leu) c.2010T>A (p.Phe670Leu) n.1112T>A c.1650T>A (p.Phe550Leu) c.2284T>A n.3334T>A n.2618T>A c.622T>A c.142T>A c.4938T>A (p.Phe1646Leu) c.630T>A (p.Phe210Leu) c.635T>A c.1829T>A c.4959T>A (p.Phe1653Leu) c.4947T>A (p.Phe1649Leu) c.4887T>A (p.Phe1629Leu) c.4869T>A (p.Phe1623Leu) c.4620T>A (p.Phe1540Leu) c.4848T>A (p.Phe1616Leu) c.4614T>A (p.Phe1538Leu) c.2067T>A (p.Phe689Leu) c.1671T>A (p.Phe557Leu) c.2220T>A (p.Phe740Leu) c.2199T>A (p.Phe733Leu) | |
| 1 | g.7752513T>C | CA415826036 | CAMTA1 | c.1692T>C (p.Phe564=) c.2031T>C (p.Phe677=) c.4599T>C (p.Phe1533=) c.2260T>C c.*4471T>C (n.*4471T>C) c.4530T>C (p.Phe1510=) c.4527T>C (p.Phe1509=) c.2784T>C (p.Phe928=) c.1989T>C (p.Phe663=) c.2010T>C (p.Phe670=) n.1112T>C c.1650T>C (p.Phe550=) c.2284T>C n.3334T>C n.2618T>C c.622T>C c.142T>C c.4938T>C (p.Phe1646=) c.630T>C (p.Phe210=) c.635T>C c.1829T>C c.4959T>C (p.Phe1653=) c.4947T>C (p.Phe1649=) c.4887T>C (p.Phe1629=) c.4869T>C (p.Phe1623=) c.4620T>C (p.Phe1540=) c.4848T>C (p.Phe1616=) c.4614T>C (p.Phe1538=) c.2067T>C (p.Phe689=) c.1671T>C (p.Phe557=) c.2220T>C (p.Phe740=) c.2199T>C (p.Phe733=) | |
| 1 | g.7752513T>G | CA338145484 | CAMTA1 | c.1692T>G (p.Phe564Leu) c.2031T>G (p.Phe677Leu) c.4599T>G (p.Phe1533Leu) c.2260T>G c.*4471T>G (n.*4471T>G) c.4530T>G (p.Phe1510Leu) c.4527T>G (p.Phe1509Leu) c.2784T>G (p.Phe928Leu) c.1989T>G (p.Phe663Leu) c.2010T>G (p.Phe670Leu) n.1112T>G c.1650T>G (p.Phe550Leu) c.2284T>G n.3334T>G n.2618T>G c.622T>G c.142T>G c.4938T>G (p.Phe1646Leu) c.630T>G (p.Phe210Leu) c.635T>G c.1829T>G c.4959T>G (p.Phe1653Leu) c.4947T>G (p.Phe1649Leu) c.4887T>G (p.Phe1629Leu) c.4869T>G (p.Phe1623Leu) c.4620T>G (p.Phe1540Leu) c.4848T>G (p.Phe1616Leu) c.4614T>G (p.Phe1538Leu) c.2067T>G (p.Phe689Leu) c.1671T>G (p.Phe557Leu) c.2220T>G (p.Phe740Leu) c.2199T>G (p.Phe733Leu) | |
| 1 | g.7752514C>A | CA338145487 | CAMTA1 | c.1693C>A (p.Leu565Ile) c.2032C>A (p.Leu678Ile) c.4600C>A (p.Leu1534Ile) c.2261C>A c.*4472C>A (n.*4472C>A) c.4531C>A (p.Leu1511Ile) c.4528C>A (p.Leu1510Ile) c.2785C>A (p.Leu929Ile) c.1990C>A (p.Leu664Ile) c.2011C>A (p.Leu671Ile) n.1113C>A c.1651C>A (p.Leu551Ile) c.2285C>A n.3335C>A n.2619C>A c.623C>A c.143C>A c.4939C>A (p.Leu1647Ile) c.631C>A (p.Leu211Ile) c.636C>A c.1830C>A c.4960C>A (p.Leu1654Ile) c.4948C>A (p.Leu1650Ile) c.4888C>A (p.Leu1630Ile) c.4870C>A (p.Leu1624Ile) c.4621C>A (p.Leu1541Ile) c.4849C>A (p.Leu1617Ile) c.4615C>A (p.Leu1539Ile) c.2068C>A (p.Leu690Ile) c.1672C>A (p.Leu558Ile) c.2221C>A (p.Leu741Ile) c.2200C>A (p.Leu734Ile) | |
| 1 | g.7752514C>G | CA338145488 | CAMTA1 | c.1693C>G (p.Leu565Val) c.2032C>G (p.Leu678Val) c.4600C>G (p.Leu1534Val) c.2261C>G c.*4472C>G (n.*4472C>G) c.4531C>G (p.Leu1511Val) c.4528C>G (p.Leu1510Val) c.2785C>G (p.Leu929Val) c.1990C>G (p.Leu664Val) c.2011C>G (p.Leu671Val) n.1113C>G c.1651C>G (p.Leu551Val) c.2285C>G n.3335C>G n.2619C>G c.623C>G c.143C>G c.4939C>G (p.Leu1647Val) c.631C>G (p.Leu211Val) c.636C>G c.1830C>G c.4960C>G (p.Leu1654Val) c.4948C>G (p.Leu1650Val) c.4888C>G (p.Leu1630Val) c.4870C>G (p.Leu1624Val) c.4621C>G (p.Leu1541Val) c.4849C>G (p.Leu1617Val) c.4615C>G (p.Leu1539Val) c.2068C>G (p.Leu690Val) c.1672C>G (p.Leu558Val) c.2221C>G (p.Leu741Val) c.2200C>G (p.Leu734Val) | |
| 1 | g.7752514C>T | CA338145493 | CAMTA1 | c.1693C>T (p.Leu565Phe) c.2032C>T (p.Leu678Phe) c.4600C>T (p.Leu1534Phe) c.2261C>T c.*4472C>T (n.*4472C>T) c.4531C>T (p.Leu1511Phe) c.4528C>T (p.Leu1510Phe) c.2785C>T (p.Leu929Phe) c.1990C>T (p.Leu664Phe) c.2011C>T (p.Leu671Phe) n.1113C>T c.1651C>T (p.Leu551Phe) c.2285C>T n.3335C>T n.2619C>T c.623C>T c.143C>T c.4939C>T (p.Leu1647Phe) c.631C>T (p.Leu211Phe) c.636C>T c.1830C>T c.4960C>T (p.Leu1654Phe) c.4948C>T (p.Leu1650Phe) c.4888C>T (p.Leu1630Phe) c.4870C>T (p.Leu1624Phe) c.4621C>T (p.Leu1541Phe) c.4849C>T (p.Leu1617Phe) c.4615C>T (p.Leu1539Phe) c.2068C>T (p.Leu690Phe) c.1672C>T (p.Leu558Phe) c.2221C>T (p.Leu741Phe) c.2200C>T (p.Leu734Phe) | |
| 1 | g.7752515T>A | CA338145497 | CAMTA1 | c.1694T>A (p.Leu565His) c.2033T>A (p.Leu678His) c.4601T>A (p.Leu1534His) c.2262T>A c.*4473T>A (n.*4473T>A) c.4532T>A (p.Leu1511His) c.4529T>A (p.Leu1510His) c.2786T>A (p.Leu929His) c.1991T>A (p.Leu664His) c.2012T>A (p.Leu671His) n.1114T>A c.1652T>A (p.Leu551His) c.2286T>A n.3336T>A n.2620T>A c.624T>A c.144T>A c.4940T>A (p.Leu1647His) c.632T>A (p.Leu211His) c.637T>A c.1831T>A c.4961T>A (p.Leu1654His) c.4949T>A (p.Leu1650His) c.4889T>A (p.Leu1630His) c.4871T>A (p.Leu1624His) c.4622T>A (p.Leu1541His) c.4850T>A (p.Leu1617His) c.4616T>A (p.Leu1539His) c.2069T>A (p.Leu690His) c.1673T>A (p.Leu558His) c.2222T>A (p.Leu741His) c.2201T>A (p.Leu734His) | |
| 1 | g.7752515T>C | CA338145499 | CAMTA1 | c.1694T>C (p.Leu565Pro) c.2033T>C (p.Leu678Pro) c.4601T>C (p.Leu1534Pro) c.2262T>C c.*4473T>C (n.*4473T>C) c.4532T>C (p.Leu1511Pro) c.4529T>C (p.Leu1510Pro) c.2786T>C (p.Leu929Pro) c.1991T>C (p.Leu664Pro) c.2012T>C (p.Leu671Pro) n.1114T>C c.1652T>C (p.Leu551Pro) c.2286T>C n.3336T>C n.2620T>C c.624T>C c.144T>C c.4940T>C (p.Leu1647Pro) c.632T>C (p.Leu211Pro) c.637T>C c.1831T>C c.4961T>C (p.Leu1654Pro) c.4949T>C (p.Leu1650Pro) c.4889T>C (p.Leu1630Pro) c.4871T>C (p.Leu1624Pro) c.4622T>C (p.Leu1541Pro) c.4850T>C (p.Leu1617Pro) c.4616T>C (p.Leu1539Pro) c.2069T>C (p.Leu690Pro) c.1673T>C (p.Leu558Pro) c.2222T>C (p.Leu741Pro) c.2201T>C (p.Leu734Pro) | |
| 1 | g.7752515T>G | CA338145502 | CAMTA1 | c.1694T>G (p.Leu565Arg) c.2033T>G (p.Leu678Arg) c.4601T>G (p.Leu1534Arg) c.2262T>G c.*4473T>G (n.*4473T>G) c.4532T>G (p.Leu1511Arg) c.4529T>G (p.Leu1510Arg) c.2786T>G (p.Leu929Arg) c.1991T>G (p.Leu664Arg) c.2012T>G (p.Leu671Arg) n.1114T>G c.1652T>G (p.Leu551Arg) c.2286T>G n.3336T>G n.2620T>G c.624T>G c.144T>G c.4940T>G (p.Leu1647Arg) c.632T>G (p.Leu211Arg) c.637T>G c.1831T>G c.4961T>G (p.Leu1654Arg) c.4949T>G (p.Leu1650Arg) c.4889T>G (p.Leu1630Arg) c.4871T>G (p.Leu1624Arg) c.4622T>G (p.Leu1541Arg) c.4850T>G (p.Leu1617Arg) c.4616T>G (p.Leu1539Arg) c.2069T>G (p.Leu690Arg) c.1673T>G (p.Leu558Arg) c.2222T>G (p.Leu741Arg) c.2201T>G (p.Leu734Arg) | |
| 1 | g.7752516T>A | CA415826040 | CAMTA1 | c.1695T>A (p.Leu565=) c.2034T>A (p.Leu678=) c.4602T>A (p.Leu1534=) c.2263T>A c.*4474T>A (n.*4474T>A) c.4533T>A (p.Leu1511=) c.4530T>A (p.Leu1510=) c.2787T>A (p.Leu929=) c.1992T>A (p.Leu664=) c.2013T>A (p.Leu671=) n.1115T>A c.1653T>A (p.Leu551=) c.2287T>A n.3337T>A n.2621T>A c.625T>A c.145T>A c.4941T>A (p.Leu1647=) c.633T>A (p.Leu211=) c.638T>A c.1832T>A c.4962T>A (p.Leu1654=) c.4950T>A (p.Leu1650=) c.4890T>A (p.Leu1630=) c.4872T>A (p.Leu1624=) c.4623T>A (p.Leu1541=) c.4851T>A (p.Leu1617=) c.4617T>A (p.Leu1539=) c.2070T>A (p.Leu690=) c.1674T>A (p.Leu558=) c.2223T>A (p.Leu741=) c.2202T>A (p.Leu734=) | dbSNP |
| 1 | g.7752516T>C | CA415826041 | CAMTA1 | c.1695T>C (p.Leu565=) c.2034T>C (p.Leu678=) c.4602T>C (p.Leu1534=) c.2263T>C c.*4474T>C (n.*4474T>C) c.4533T>C (p.Leu1511=) c.4530T>C (p.Leu1510=) c.2787T>C (p.Leu929=) c.1992T>C (p.Leu664=) c.2013T>C (p.Leu671=) n.1115T>C c.1653T>C (p.Leu551=) c.2287T>C n.3337T>C n.2621T>C c.625T>C c.145T>C c.4941T>C (p.Leu1647=) c.633T>C (p.Leu211=) c.638T>C c.1832T>C c.4962T>C (p.Leu1654=) c.4950T>C (p.Leu1650=) c.4890T>C (p.Leu1630=) c.4872T>C (p.Leu1624=) c.4623T>C (p.Leu1541=) c.4851T>C (p.Leu1617=) c.4617T>C (p.Leu1539=) c.2070T>C (p.Leu690=) c.1674T>C (p.Leu558=) c.2223T>C (p.Leu741=) c.2202T>C (p.Leu734=) | |
| 1 | g.7752516T>G | CA415826042 | CAMTA1 | c.1695T>G (p.Leu565=) c.2034T>G (p.Leu678=) c.4602T>G (p.Leu1534=) c.2263T>G c.*4474T>G (n.*4474T>G) c.4533T>G (p.Leu1511=) c.4530T>G (p.Leu1510=) c.2787T>G (p.Leu929=) c.1992T>G (p.Leu664=) c.2013T>G (p.Leu671=) n.1115T>G c.1653T>G (p.Leu551=) c.2287T>G n.3337T>G n.2621T>G c.625T>G c.145T>G c.4941T>G (p.Leu1647=) c.633T>G (p.Leu211=) c.638T>G c.1832T>G c.4962T>G (p.Leu1654=) c.4950T>G (p.Leu1650=) c.4890T>G (p.Leu1630=) c.4872T>G (p.Leu1624=) c.4623T>G (p.Leu1541=) c.4851T>G (p.Leu1617=) c.4617T>G (p.Leu1539=) c.2070T>G (p.Leu690=) c.1674T>G (p.Leu558=) c.2223T>G (p.Leu741=) c.2202T>G (p.Leu734=) | |
| 1 | g.7752517C>A | CA338145505 | CAMTA1 | c.1696C>A (p.Arg566Ser) c.2035C>A (p.Arg679Ser) c.4603C>A (p.Arg1535Ser) c.2264C>A c.*4475C>A (n.*4475C>A) c.4534C>A (p.Arg1512Ser) c.4531C>A (p.Arg1511Ser) c.2788C>A (p.Arg930Ser) c.1993C>A (p.Arg665Ser) c.2014C>A (p.Arg672Ser) n.1116C>A c.1654C>A (p.Arg552Ser) c.2288C>A n.3338C>A n.2622C>A c.626C>A c.146C>A c.4942C>A (p.Arg1648Ser) c.634C>A (p.Arg212Ser) c.639C>A c.1833C>A c.4963C>A (p.Arg1655Ser) c.4951C>A (p.Arg1651Ser) c.4891C>A (p.Arg1631Ser) c.4873C>A (p.Arg1625Ser) c.4624C>A (p.Arg1542Ser) c.4852C>A (p.Arg1618Ser) c.4618C>A (p.Arg1540Ser) c.2071C>A (p.Arg691Ser) c.1675C>A (p.Arg559Ser) c.2224C>A (p.Arg742Ser) c.2203C>A (p.Arg735Ser) | gnomAD v4 |