Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.48875810A>C | CA406758452 | PPP1R15A | c.*717A>C (n.*717A>C) c.1577A>C (p.Asn526Thr) c.1910A>C (p.Asn637Thr) c.1862A>C (p.Asn621Thr) c.1493A>C | |
19 | g.48875810A>G | CA406758450 | PPP1R15A | c.*717A>G (n.*717A>G) c.1577A>G (p.Asn526Ser) c.1910A>G (p.Asn637Ser) c.1862A>G (p.Asn621Ser) c.1493A>G | |
19 | g.48875810A>T | CA406758451 | PPP1R15A | c.*717A>T (n.*717A>T) c.1577A>T (p.Asn526Ile) c.1910A>T (p.Asn637Ile) c.1862A>T (p.Asn621Ile) c.1493A>T | |
19 | g.48875811C>A | CA406758453 | PPP1R15A | c.*718C>A (n.*718C>A) c.1578C>A (p.Asn526Lys) c.1911C>A (p.Asn637Lys) c.1863C>A (p.Asn621Lys) c.1494C>A | |
19 | g.48875811C>G | CA406758454 | PPP1R15A | c.*718C>G (n.*718C>G) c.1578C>G (p.Asn526Lys) c.1911C>G (p.Asn637Lys) c.1863C>G (p.Asn621Lys) c.1494C>G | |
19 | g.48875811C>T | CA508078113 | PPP1R15A | c.*718C>T (n.*718C>T) c.1578C>T (p.Asn526=) c.1911C>T (p.Asn637=) c.1863C>T (p.Asn621=) c.1494C>T | |
19 | g.48875812C>A | CA406758455 | PPP1R15A | c.*719C>A (n.*719C>A) c.1579C>A (p.Pro527Thr) c.1912C>A (p.Pro638Thr) c.1864C>A (p.Pro622Thr) c.1495C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.48875812C= | CA2340115805 | PPP1R15A | c.*719C= (n.*719C=) c.1579C= (p.Pro527=) c.1912C= (p.Pro638=) c.1864C= (p.Pro622=) c.1495C= | |
19 | g.48875812C>G | CA406758456 | PPP1R15A | c.*719C>G (n.*719C>G) c.1579C>G (p.Pro527Ala) c.1912C>G (p.Pro638Ala) c.1864C>G (p.Pro622Ala) c.1495C>G | |
19 | g.48875812C>T | CA406758457 | PPP1R15A | c.*719C>T (n.*719C>T) c.1579C>T (p.Pro527Ser) c.1912C>T (p.Pro638Ser) c.1864C>T (p.Pro622Ser) c.1495C>T | |
19 | g.48875813C>A | CA406758458 | PPP1R15A | c.*720C>A (n.*720C>A) c.1580C>A (p.Pro527Gln) c.1913C>A (p.Pro638Gln) c.1865C>A (p.Pro622Gln) c.1496C>A | |
19 | g.48875813C>G | CA406758459 | PPP1R15A | c.*720C>G (n.*720C>G) c.1580C>G (p.Pro527Arg) c.1913C>G (p.Pro638Arg) c.1865C>G (p.Pro622Arg) c.1496C>G | |
19 | g.48875813C>T | CA406758460 | PPP1R15A | c.*720C>T (n.*720C>T) c.1580C>T (p.Pro527Leu) c.1913C>T (p.Pro638Leu) c.1865C>T (p.Pro622Leu) c.1496C>T | |
19 | g.48875814A>C | CA508078123 | PPP1R15A | c.*721A>C (n.*721A>C) c.1581A>C (p.Pro527=) c.1914A>C (p.Pro638=) c.1866A>C (p.Pro622=) c.1497A>C | |
19 | g.48875814A>G | CA508078128 | PPP1R15A | c.*721A>G (n.*721A>G) c.1581A>G (p.Pro527=) c.1914A>G (p.Pro638=) c.1866A>G (p.Pro622=) c.1497A>G | gnomAD v4 |
19 | g.48875814A>T | CA508078130 | PPP1R15A | c.*721A>T (n.*721A>T) c.1581A>T (p.Pro527=) c.1914A>T (p.Pro638=) c.1866A>T (p.Pro622=) c.1497A>T | |
19 | g.48875815C>A | CA406758461 | PPP1R15A | c.*722C>A (n.*722C>A) c.1582C>A (p.Pro528Thr) c.1915C>A (p.Pro639Thr) c.1867C>A (p.Pro623Thr) c.1498C>A | |
19 | g.48875815C= | CA2340115806 | PPP1R15A | c.*722C= (n.*722C=) c.1582C= (p.Pro528=) c.1915C= (p.Pro639=) c.1867C= (p.Pro623=) c.1498C= | |
19 | g.48875815C>G | CA406758462 | PPP1R15A | c.*722C>G (n.*722C>G) c.1582C>G (p.Pro528Ala) c.1915C>G (p.Pro639Ala) c.1867C>G (p.Pro623Ala) c.1498C>G | dbSNP |
19 | g.48875815C>T | CA406758463 | PPP1R15A | c.*722C>T (n.*722C>T) c.1582C>T (p.Pro528Ser) c.1915C>T (p.Pro639Ser) c.1867C>T (p.Pro623Ser) c.1498C>T | |
19 | g.48875816C>A | CA406758464 | PPP1R15A | c.*723C>A (n.*723C>A) c.1583C>A (p.Pro528His) c.1916C>A (p.Pro639His) c.1868C>A (p.Pro623His) c.1499C>A | |
19 | g.48875816C= | CA2340115807 | PPP1R15A | c.*723C= (n.*723C=) c.1583C= (p.Pro528=) c.1916C= (p.Pro639=) c.1868C= (p.Pro623=) c.1499C= | |
19 | g.48875816C>G | CA406758466 | PPP1R15A | c.*723C>G (n.*723C>G) c.1583C>G (p.Pro528Arg) c.1916C>G (p.Pro639Arg) c.1868C>G (p.Pro623Arg) c.1499C>G | gnomAD v4 |
19 | g.48875816C>T | CA406758465 | PPP1R15A | c.*723C>T (n.*723C>T) c.1583C>T (p.Pro528Leu) c.1916C>T (p.Pro639Leu) c.1868C>T (p.Pro623Leu) c.1499C>T | dbSNP |
19 | g.48875817T>A | CA508078143 | PPP1R15A | c.*724T>A (n.*724T>A) c.1584T>A (p.Pro528=) c.1917T>A (p.Pro639=) c.1869T>A (p.Pro623=) c.1500T>A | |
19 | g.48875817T>C | CA508078145 | PPP1R15A | c.*724T>C (n.*724T>C) c.1584T>C (p.Pro528=) c.1917T>C (p.Pro639=) c.1869T>C (p.Pro623=) c.1500T>C | |
19 | g.48875817T>G | CA508078146 | PPP1R15A | c.*724T>G (n.*724T>G) c.1584T>G (p.Pro528=) c.1917T>G (p.Pro639=) c.1869T>G (p.Pro623=) c.1500T>G | |
19 | g.48875818T>A | CA406758467 | PPP1R15A | c.*725T>A (n.*725T>A) c.1585T>A (p.Leu529Ile) c.1918T>A (p.Leu640Ile) c.1870T>A (p.Leu624Ile) c.1501T>A | gnomAD v4 |
19 | g.48875818T>C | CA508078151 | PPP1R15A | c.*725T>C (n.*725T>C) c.1585T>C (p.Leu529=) c.1918T>C (p.Leu640=) c.1870T>C (p.Leu624=) c.1501T>C | |
19 | g.48875818T>G | CA406758468 | PPP1R15A | c.*725T>G (n.*725T>G) c.1585T>G (p.Leu529Val) c.1918T>G (p.Leu640Val) c.1870T>G (p.Leu624Val) c.1501T>G | |
19 | g.48875819T>A | CA406758469 | PPP1R15A | c.*726T>A (n.*726T>A) c.1586T>A (p.Leu529Ter) c.1919T>A (p.Leu640Ter) c.1871T>A (p.Leu624Ter) c.1502T>A | |
19 | g.48875819T>C | CA406758471 | PPP1R15A | c.*726T>C (n.*726T>C) c.1586T>C (p.Leu529Ser) c.1919T>C (p.Leu640Ser) c.1871T>C (p.Leu624Ser) c.1502T>C | |
19 | g.48875819T>G | CA406758470 | PPP1R15A | c.*726T>G (n.*726T>G) c.1586T>G (p.Leu529Ter) c.1919T>G (p.Leu640Ter) c.1871T>G (p.Leu624Ter) c.1502T>G | |
19 | g.48875820A>C | CA406758472 | PPP1R15A | c.*727A>C (n.*727A>C) c.1587A>C (p.Leu529Phe) c.1920A>C (p.Leu640Phe) c.1872A>C (p.Leu624Phe) c.1503A>C | |
19 | g.48875820A>G | CA508078162 | PPP1R15A | c.*727A>G (n.*727A>G) c.1587A>G (p.Leu529=) c.1920A>G (p.Leu640=) c.1872A>G (p.Leu624=) c.1503A>G | |
19 | g.48875820A>T | CA406758473 | PPP1R15A | c.*727A>T (n.*727A>T) c.1587A>T (p.Leu529Phe) c.1920A>T (p.Leu640Phe) c.1872A>T (p.Leu624Phe) c.1503A>T | |
19 | g.48875821G>A | CA406758474 | PPP1R15A | c.*728G>A (n.*728G>A) c.1588G>A (p.Ala530Thr) c.1921G>A (p.Ala641Thr) c.1873G>A (p.Ala625Thr) c.1504G>A | |
19 | g.48875821G>C | CA406758475 | PPP1R15A | c.*728G>C (n.*728G>C) c.1588G>C (p.Ala530Pro) c.1921G>C (p.Ala641Pro) c.1873G>C (p.Ala625Pro) c.1504G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.48875821G= | CA2340115808 | PPP1R15A | c.*728G= (n.*728G=) c.1588G= (p.Ala530=) c.1921G= (p.Ala641=) c.1873G= (p.Ala625=) c.1504G= | |
19 | g.48875821G>T | CA406758476 | PPP1R15A | c.*728G>T (n.*728G>T) c.1588G>T (p.Ala530Ser) c.1921G>T (p.Ala641Ser) c.1873G>T (p.Ala625Ser) c.1504G>T | |
19 | g.48875822C>A | CA406758477 | PPP1R15A | c.*729C>A (n.*729C>A) c.1589C>A (p.Ala530Asp) c.1922C>A (p.Ala641Asp) c.1874C>A (p.Ala625Asp) c.1505C>A | |
19 | g.48875822C>G | CA406758478 | PPP1R15A | c.*729C>G (n.*729C>G) c.1589C>G (p.Ala530Gly) c.1922C>G (p.Ala641Gly) c.1874C>G (p.Ala625Gly) c.1505C>G | |
19 | g.48875822C>T | CA406758479 | PPP1R15A | c.*729C>T (n.*729C>T) c.1589C>T (p.Ala530Val) c.1922C>T (p.Ala641Val) c.1874C>T (p.Ala625Val) c.1505C>T | |
19 | g.48875823C>A | CA508078172 | PPP1R15A | c.*730C>A (n.*730C>A) c.1590C>A (p.Ala530=) c.1923C>A (p.Ala641=) c.1875C>A (p.Ala625=) c.1506C>A | |
19 | g.48875823C>G | CA508078174 | PPP1R15A | c.*730C>G (n.*730C>G) c.1590C>G (p.Ala530=) c.1923C>G (p.Ala641=) c.1875C>G (p.Ala625=) c.1506C>G | |
19 | g.48875823C>T | CA508078176 | PPP1R15A | c.*730C>T (n.*730C>T) c.1590C>T (p.Ala530=) c.1923C>T (p.Ala641=) c.1875C>T (p.Ala625=) c.1506C>T | gnomAD v4 |
19 | g.48875824C>A | CA406758480 | PPP1R15A | c.*731C>A (n.*731C>A) c.1591C>A (p.Pro531Thr) c.1924C>A (p.Pro642Thr) c.1876C>A (p.Pro626Thr) c.1507C>A | |
19 | g.48875824C>G | CA406758481 | PPP1R15A | c.*731C>G (n.*731C>G) c.1591C>G (p.Pro531Ala) c.1924C>G (p.Pro642Ala) c.1876C>G (p.Pro626Ala) c.1507C>G | |
19 | g.48875824C>T | CA406758482 | PPP1R15A | c.*731C>T (n.*731C>T) c.1591C>T (p.Pro531Ser) c.1924C>T (p.Pro642Ser) c.1876C>T (p.Pro626Ser) c.1507C>T | |
19 | g.48875825C>A | CA406758485 | PPP1R15A | c.*732C>A (n.*732C>A) c.1592C>A (p.Pro531His) c.1925C>A (p.Pro642His) c.1877C>A (p.Pro626His) c.1508C>A |