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 |
|---|---|---|---|---|---|
| 7 | g.66630974A>T | CA2539767753 | KCTD7 | c.144+1766A>T (n.144+1766A>T) c.122+1766A>T c.139+1766A>T c.118+1766A>T c.14+1766A>T | |
| 7 | g.66630975T>C | CA841312643 | KCTD7 | c.144+1767T>C (n.144+1767T>C) c.122+1767T>C c.139+1767T>C c.118+1767T>C c.14+1767T>C | dbSNP |
| 7 | g.66630975T= | CA1714173347 | KCTD7 | c.144+1767T= (n.144+1767T=) c.122+1767T= c.139+1767T= c.118+1767T= c.14+1767T= | |
| 7 | g.66630977C= | CA1714173348 | KCTD7 | c.144+1769C= (n.144+1769C=) c.122+1769C= c.139+1769C= c.118+1769C= c.14+1769C= | |
| 7 | g.66630977C>G | CA2776258558 | KCTD7 | c.144+1769C>G (n.144+1769C>G) c.122+1769C>G c.139+1769C>G c.118+1769C>G c.14+1769C>G | |
| 7 | g.66630977C>T | CA160219431 | KCTD7 | c.144+1769C>T (n.144+1769C>T) c.122+1769C>T c.139+1769C>T c.118+1769C>T c.14+1769C>T | dbSNP |
| 7 | g.66630977_66630980del | CA2561700221 | KCTD7 | c.144+1769_144+1772del (n.144+1769_144+1772del) c.122+1769_122+1772del c.139+1769_139+1772del c.118+1769_118+1772del c.14+1769_14+1772del | |
| 7 | g.66630979A= | CA1714173349 | KCTD7 | c.144+1771A= (n.144+1771A=) c.122+1771A= c.139+1771A= c.118+1771A= c.14+1771A= | |
| 7 | g.66630979A>G | CA1714173350 | KCTD7 | c.144+1771A>G (n.144+1771A>G) c.122+1771A>G c.139+1771A>G c.118+1771A>G c.14+1771A>G | dbSNP |
| 7 | g.66630980A= | CA1714173351 | KCTD7 | c.144+1772A= (n.144+1772A=) c.122+1772A= c.139+1772A= c.118+1772A= c.14+1772A= | |
| 7 | g.66630980A>G | CA1714173352 | KCTD7 | c.144+1772A>G (n.144+1772A>G) c.122+1772A>G c.139+1772A>G c.118+1772A>G c.14+1772A>G | dbSNP |
| 7 | g.66630980_66630981insTT | CA2550474191 | KCTD7 | c.144+1772_144+1773insTT (n.144+1772_144+1773insTT) c.122+1772_122+1773insTT c.139+1772_139+1773insTT c.118+1772_118+1773insTT c.14+1772_14+1773insTT | |
| 7 | g.66630984G>T | CA2569253558 | KCTD7 | c.144+1776G>T (n.144+1776G>T) c.122+1776G>T c.139+1776G>T c.118+1776G>T c.14+1776G>T | |
| 7 | g.66630986T>C | CA1102438426 | KCTD7 | c.144+1778T>C (n.144+1778T>C) c.122+1778T>C c.139+1778T>C c.118+1778T>C c.14+1778T>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.66630986T= | CA1714173354 | KCTD7 | c.144+1778T= (n.144+1778T=) c.122+1778T= c.139+1778T= c.118+1778T= c.14+1778T= | |
| 7 | g.66630986_66630991delinsTATCTG | CA1714173353 | KCTD7 | c.144+1778_144+1783delinsTATCTG (n.144+1778_144+1783delinsTATCTG) c.122+1778_122+1783delinsTATCTG c.139+1778_139+1783delinsTATCTG c.118+1778_118+1783delinsTATCTG c.14+1778_14+1783delinsTATCTG | |
| 7 | g.66630988_66630992del | CA841312644 | KCTD7 | c.144+1780_144+1784del (n.144+1780_144+1784del) c.122+1780_122+1784del c.139+1780_139+1784del c.118+1780_118+1784del c.14+1780_14+1784del | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.66630988del | CA2525018820 | KCTD7 | c.144+1780del (n.144+1780del) c.122+1780del c.139+1780del c.118+1780del c.14+1780del | |
| 7 | g.66630989C= | CA1714173355 | KCTD7 | c.144+1781C= (n.144+1781C=) c.122+1781C= c.139+1781C= c.118+1781C= c.14+1781C= | |
| 7 | g.66630989C>T | CA160219432 | KCTD7 | c.144+1781C>T (n.144+1781C>T) c.122+1781C>T c.139+1781C>T c.118+1781C>T c.14+1781C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66630990del | CA2509574481 | KCTD7 | c.144+1782del (n.144+1782del) c.122+1782del c.139+1782del c.118+1782del c.14+1782del | |
| 7 | g.66630991G>A | CA160219433 | KCTD7 | c.144+1783G>A (n.144+1783G>A) c.122+1783G>A c.139+1783G>A c.118+1783G>A c.14+1783G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.66630991G= | CA1714173356 | KCTD7 | c.144+1783G= (n.144+1783G=) c.122+1783G= c.139+1783G= c.118+1783G= c.14+1783G= | |
| 7 | g.66630992del | CA2529293933 | KCTD7 | c.144+1784del (n.144+1784del) c.122+1784del c.139+1784del c.118+1784del c.14+1784del | |
| 7 | g.66630994_66630995insGACCA | CA2570145851 | KCTD7 | c.144+1786_144+1787insGACCA (n.144+1786_144+1787insGACCA) c.122+1786_122+1787insGACCA c.139+1786_139+1787insGACCA c.118+1786_118+1787insGACCA c.14+1786_14+1787insGACCA | |
| 7 | g.66630997T>G | CA2556405451 | KCTD7 | c.144+1789T>G (n.144+1789T>G) c.122+1789T>G c.139+1789T>G c.118+1789T>G c.14+1789T>G | |
| 7 | g.66630998T>A | CA2524572422 | KCTD7 | c.144+1790T>A (n.144+1790T>A) c.122+1790T>A c.139+1790T>A c.118+1790T>A c.14+1790T>A | |
| 7 | g.66630999G>A | CA160219434 | KCTD7 | c.144+1791G>A (n.144+1791G>A) c.122+1791G>A c.139+1791G>A c.118+1791G>A c.14+1791G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66630999G= | CA1714173357 | KCTD7 | c.144+1791G= (n.144+1791G=) c.122+1791G= c.139+1791G= c.118+1791G= c.14+1791G= | |
| 7 | g.66631000A= | CA1714173358 | KCTD7 | c.144+1792A= (n.144+1792A=) c.122+1792A= c.139+1792A= c.118+1792A= c.14+1792A= | |
| 7 | g.66631000A>T | CA1102438433 | KCTD7 | c.144+1792A>T (n.144+1792A>T) c.122+1792A>T c.139+1792A>T c.118+1792A>T c.14+1792A>T | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.66631002A= | CA1714173360 | KCTD7 | c.144+1794A= (n.144+1794A=) c.122+1794A= c.139+1794A= c.118+1794A= c.14+1794A= | |
| 7 | g.66631002A>C | CA2513543430 | KCTD7 | c.144+1794A>C (n.144+1794A>C) c.122+1794A>C c.139+1794A>C c.118+1794A>C c.14+1794A>C | |
| 7 | g.66631002A>G | CA1714173359 | KCTD7 | c.144+1794A>G (n.144+1794A>G) c.122+1794A>G c.139+1794A>G c.118+1794A>G c.14+1794A>G | dbSNP |
| 7 | g.66631009T>G | CA575144699 | KCTD7 | c.144+1801T>G (n.144+1801T>G) c.122+1801T>G c.139+1801T>G c.118+1801T>G c.14+1801T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66631009T= | CA1714173361 | KCTD7 | c.144+1801T= (n.144+1801T=) c.122+1801T= c.139+1801T= c.118+1801T= c.14+1801T= | |
| 7 | g.66631013A= | CA1714173362 | KCTD7 | c.144+1805A= (n.144+1805A=) c.122+1805A= c.139+1805A= c.118+1805A= c.14+1805A= | |
| 7 | g.66631013A>T | CA1714173363 | KCTD7 | c.144+1805A>T (n.144+1805A>T) c.122+1805A>T c.139+1805A>T c.118+1805A>T c.14+1805A>T | dbSNP |
| 7 | g.66631017T>C | CA1714173365 | KCTD7 | c.144+1809T>C (n.144+1809T>C) c.122+1809T>C c.139+1809T>C c.118+1809T>C c.14+1809T>C | dbSNP |
| 7 | g.66631017T= | CA1714173364 | KCTD7 | c.144+1809T= (n.144+1809T=) c.122+1809T= c.139+1809T= c.118+1809T= c.14+1809T= | |
| 7 | g.66631025G>A | CA1714173366 | KCTD7 | c.144+1817G>A (n.144+1817G>A) c.122+1817G>A c.139+1817G>A c.118+1817G>A c.14+1817G>A | dbSNP |
| 7 | g.66631025G= | CA1714173367 | KCTD7 | c.144+1817G= (n.144+1817G=) c.122+1817G= c.139+1817G= c.118+1817G= c.14+1817G= | |
| 7 | g.66631028C= | CA1714173368 | KCTD7 | c.144+1820C= (n.144+1820C=) c.122+1820C= c.139+1820C= c.118+1820C= c.14+1820C= | |
| 7 | g.66631028C>G | CA575144702 | KCTD7 | c.144+1820C>G (n.144+1820C>G) c.122+1820C>G c.139+1820C>G c.118+1820C>G c.14+1820C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66631028C>T | CA1714173369 | KCTD7 | c.144+1820C>T (n.144+1820C>T) c.122+1820C>T c.139+1820C>T c.118+1820C>T c.14+1820C>T | dbSNP |
| 7 | g.66631031C= | CA1714173370 | KCTD7 | c.144+1823C= (n.144+1823C=) c.122+1823C= c.139+1823C= c.118+1823C= c.14+1823C= | |
| 7 | g.66631031C>T | CA841312645 | KCTD7 | c.144+1823C>T (n.144+1823C>T) c.122+1823C>T c.139+1823C>T c.118+1823C>T c.14+1823C>T | dbSNP |
| 7 | g.66631034A= | CA1714173371 | KCTD7 | c.144+1826A= (n.144+1826A=) c.122+1826A= c.139+1826A= c.118+1826A= c.14+1826A= | |
| 7 | g.66631034A>G | CA1102438451 | KCTD7 | c.144+1826A>G (n.144+1826A>G) c.122+1826A>G c.139+1826A>G c.118+1826A>G c.14+1826A>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.66631041G>A | CA12510037 | KCTD7 | c.144+1833G>A (n.144+1833G>A) c.122+1833G>A c.139+1833G>A c.118+1833G>A c.14+1833G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |