| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41978041G>A | CA341233 | ATP1A3 | c.1877C>T (p.Thr626Met) c.1838C>T (p.Thr613Met) c.1871C>T (p.Thr624Met) c.1748C>T (p.Thr583Met) | ClinVar dbSNP COSMIC |
| 19 | g.41978041G>C | CA406045186 | ATP1A3 | c.1877C>G (p.Thr626Arg) c.1838C>G (p.Thr613Arg) c.1871C>G (p.Thr624Arg) c.1748C>G (p.Thr583Arg) | |
| 19 | g.41978041G= | CA2336724849 | ATP1A3 | c.1877C= (p.Thr626=) c.1838C= (p.Thr613=) c.1871C= (p.Thr624=) c.1748C= (p.Thr583=) | |
| 19 | g.41978041G>T | CA406045188 | ATP1A3 | c.1877C>A (p.Thr626Lys) c.1838C>A (p.Thr613Lys) c.1871C>A (p.Thr624Lys) c.1748C>A (p.Thr583Lys) | |
| 19 | g.41978042T>A | CA406045190 | ATP1A3 | c.1876A>T (p.Thr626Ser) c.1837A>T (p.Thr613Ser) c.1870A>T (p.Thr624Ser) c.1747A>T (p.Thr583Ser) | |
| 19 | g.41978042T>C | CA406045191 | ATP1A3 | c.1876A>G (p.Thr626Ala) c.1837A>G (p.Thr613Ala) c.1870A>G (p.Thr624Ala) c.1747A>G (p.Thr583Ala) | |
| 19 | g.41978042T>G | CA406045193 | ATP1A3 | c.1876A>C (p.Thr626Pro) c.1837A>C (p.Thr613Pro) c.1870A>C (p.Thr624Pro) c.1747A>C (p.Thr583Pro) | |
| 19 | g.41978043G>A | CA507586750 | ATP1A3 | c.1875C>T (p.Ile625=) c.1836C>T (p.Ile612=) c.1869C>T (p.Ile623=) c.1746C>T (p.Ile582=) | |
| 19 | g.41978043G>C | CA406045196 | ATP1A3 | c.1875C>G (p.Ile625Met) c.1836C>G (p.Ile612Met) c.1869C>G (p.Ile623Met) c.1746C>G (p.Ile582Met) | |
| 19 | g.41978043G>T | CA507586753 | ATP1A3 | c.1875C>A (p.Ile625=) c.1836C>A (p.Ile612=) c.1869C>A (p.Ile623=) c.1746C>A (p.Ile582=) | |
| 19 | g.41978044A>C | CA406045199 | ATP1A3 | c.1874T>G (p.Ile625Ser) c.1835T>G (p.Ile612Ser) c.1868T>G (p.Ile623Ser) c.1745T>G (p.Ile582Ser) | |
| 19 | g.41978044A>G | CA406045198 | ATP1A3 | c.1874T>C (p.Ile625Thr) c.1835T>C (p.Ile612Thr) c.1868T>C (p.Ile623Thr) c.1745T>C (p.Ile582Thr) | gnomAD v4 |
| 19 | g.41978044A>T | CA406045201 | ATP1A3 | c.1874T>A (p.Ile625Asn) c.1835T>A (p.Ile612Asn) c.1868T>A (p.Ile623Asn) c.1745T>A (p.Ile582Asn) | |
| 19 | g.41978045T>A | CA406045204 | ATP1A3 | c.1873A>T (p.Ile625Phe) c.1834A>T (p.Ile612Phe) c.1867A>T (p.Ile623Phe) c.1744A>T (p.Ile582Phe) | |
| 19 | g.41978045T>C | CA406045206 | ATP1A3 | c.1873A>G (p.Ile625Val) c.1834A>G (p.Ile612Val) c.1867A>G (p.Ile623Val) c.1744A>G (p.Ile582Val) | |
| 19 | g.41978045T>G | CA406045208 | ATP1A3 | c.1873A>C (p.Ile625Leu) c.1834A>C (p.Ile612Leu) c.1867A>C (p.Ile623Leu) c.1744A>C (p.Ile582Leu) | |
| 19 | g.41978046G>A | CA507586766 | ATP1A3 | c.1872C>T (p.Pro624=) c.1833C>T (p.Pro611=) c.1866C>T (p.Pro622=) c.1743C>T (p.Pro581=) | |
| 19 | g.41978046G>C | CA507586768 | ATP1A3 | c.1872C>G (p.Pro624=) c.1833C>G (p.Pro611=) c.1866C>G (p.Pro622=) c.1743C>G (p.Pro581=) | |
| 19 | g.41978046G= | CA2336724850 | ATP1A3 | c.1872C= (p.Pro624=) c.1833C= (p.Pro611=) c.1866C= (p.Pro622=) c.1743C= (p.Pro581=) | |
| 19 | g.41978046G>T | CA9467550 | ATP1A3 | c.1872C>A (p.Pro624=) c.1833C>A (p.Pro611=) c.1866C>A (p.Pro622=) c.1743C>A (p.Pro581=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41978047G>A | CA406045212 | ATP1A3 | c.1871C>T (p.Pro624Leu) c.1832C>T (p.Pro611Leu) c.1865C>T (p.Pro622Leu) c.1742C>T (p.Pro581Leu) | |
| 19 | g.41978047G>C | CA406045214 | ATP1A3 | c.1871C>G (p.Pro624Arg) c.1832C>G (p.Pro611Arg) c.1865C>G (p.Pro622Arg) c.1742C>G (p.Pro581Arg) | |
| 19 | g.41978047G>T | CA406045215 | ATP1A3 | c.1871C>A (p.Pro624His) c.1832C>A (p.Pro611His) c.1865C>A (p.Pro622His) c.1742C>A (p.Pro581His) | |
| 19 | g.41978048G>A | CA406045217 | ATP1A3 | c.1870C>T (p.Pro624Ser) c.1831C>T (p.Pro611Ser) c.1864C>T (p.Pro622Ser) c.1741C>T (p.Pro581Ser) | |
| 19 | g.41978048G>C | CA406045221 | ATP1A3 | c.1870C>G (p.Pro624Ala) c.1831C>G (p.Pro611Ala) c.1864C>G (p.Pro622Ala) c.1741C>G (p.Pro581Ala) | |
| 19 | g.41978048G>T | CA406045223 | ATP1A3 | c.1870C>A (p.Pro624Thr) c.1831C>A (p.Pro611Thr) c.1864C>A (p.Pro622Thr) c.1741C>A (p.Pro581Thr) | |
| 19 | g.41978049G>A | CA507586779 | ATP1A3 | c.1869C>T (p.His623=) c.1830C>T (p.His610=) c.1863C>T (p.His621=) c.1740C>T (p.His580=) | |
| 19 | g.41978049G>C | CA406045224 | ATP1A3 | c.1869C>G (p.His623Gln) c.1830C>G (p.His610Gln) c.1863C>G (p.His621Gln) c.1740C>G (p.His580Gln) | |
| 19 | g.41978049G>T | CA406045226 | ATP1A3 | c.1869C>A (p.His623Gln) c.1830C>A (p.His610Gln) c.1863C>A (p.His621Gln) c.1740C>A (p.His580Gln) | |
| 19 | g.41978050T>A | CA406045232 | ATP1A3 | c.1868A>T (p.His623Leu) c.1829A>T (p.His610Leu) c.1862A>T (p.His621Leu) c.1739A>T (p.His580Leu) | |
| 19 | g.41978050T>C | CA406045230 | ATP1A3 | c.1868A>G (p.His623Arg) c.1829A>G (p.His610Arg) c.1862A>G (p.His621Arg) c.1739A>G (p.His580Arg) | |
| 19 | g.41978050T>G | CA406045228 | ATP1A3 | c.1868A>C (p.His623Pro) c.1829A>C (p.His610Pro) c.1862A>C (p.His621Pro) c.1739A>C (p.His580Pro) | dbSNP |
| 19 | g.41978050T= | CA2336724851 | ATP1A3 | c.1868A= (p.His623=) c.1829A= (p.His610=) c.1862A= (p.His621=) c.1739A= (p.His580=) | |
| 19 | g.41978051G>A | CA406045234 | ATP1A3 | c.1867C>T (p.His623Tyr) c.1828C>T (p.His610Tyr) c.1861C>T (p.His621Tyr) c.1738C>T (p.His580Tyr) | |
| 19 | g.41978051G>C | CA406045235 | ATP1A3 | c.1867C>G (p.His623Asp) c.1828C>G (p.His610Asp) c.1861C>G (p.His621Asp) c.1738C>G (p.His580Asp) | |
| 19 | g.41978051G>T | CA406045237 | ATP1A3 | c.1867C>A (p.His623Asn) c.1828C>A (p.His610Asn) c.1861C>A (p.His621Asn) c.1738C>A (p.His580Asn) | |
| 19 | g.41978052A>C | CA406045239 | ATP1A3 | c.1866T>G (p.Asp622Glu) c.1827T>G (p.Asp609Glu) c.1860T>G (p.Asp620Glu) c.1737T>G (p.Asp579Glu) | |
| 19 | g.41978052A>G | CA507586788 | ATP1A3 | c.1866T>C (p.Asp622=) c.1827T>C (p.Asp609=) c.1860T>C (p.Asp620=) c.1737T>C (p.Asp579=) | |
| 19 | g.41978052A>T | CA406045241 | ATP1A3 | c.1866T>A (p.Asp622Glu) c.1827T>A (p.Asp609Glu) c.1860T>A (p.Asp620Glu) c.1737T>A (p.Asp579Glu) | |
| 19 | g.41978053T>A | CA406045243 | ATP1A3 | c.1865A>T (p.Asp622Val) c.1826A>T (p.Asp609Val) c.1859A>T (p.Asp620Val) c.1736A>T (p.Asp579Val) | |
| 19 | g.41978053T>C | CA406045245 | ATP1A3 | c.1865A>G (p.Asp622Gly) c.1826A>G (p.Asp609Gly) c.1859A>G (p.Asp620Gly) c.1736A>G (p.Asp579Gly) | |
| 19 | g.41978053T>G | CA406045246 | ATP1A3 | c.1865A>C (p.Asp622Ala) c.1826A>C (p.Asp609Ala) c.1859A>C (p.Asp620Ala) c.1736A>C (p.Asp579Ala) | |
| 19 | g.41978054C>A | CA406045249 | ATP1A3 | c.1864G>T (p.Asp622Tyr) c.1825G>T (p.Asp609Tyr) c.1858G>T (p.Asp620Tyr) c.1735G>T (p.Asp579Tyr) | ClinVar |
| 19 | g.41978054C= | CA2336724852 | ATP1A3 | c.1864G= (p.Asp622=) c.1825G= (p.Asp609=) c.1858G= (p.Asp620=) c.1735G= (p.Asp579=) | |
| 19 | g.41978054C>G | CA406045250 | ATP1A3 | c.1864G>C (p.Asp622His) c.1825G>C (p.Asp609His) c.1858G>C (p.Asp620His) c.1735G>C (p.Asp579His) | |
| 19 | g.41978054C>T | CA406045252 | ATP1A3 | c.1864G>A (p.Asp622Asn) c.1825G>A (p.Asp609Asn) c.1858G>A (p.Asp620Asn) c.1735G>A (p.Asp579Asn) | ClinVar dbSNP |
| 19 | g.41978055G>A | CA9467551 | ATP1A3 | c.1863C>T (p.Gly621=) c.1824C>T (p.Gly608=) c.1857C>T (p.Gly619=) c.1734C>T (p.Gly578=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41978055G>C | CA507586798 | ATP1A3 | c.1863C>G (p.Gly621=) c.1824C>G (p.Gly608=) c.1857C>G (p.Gly619=) c.1734C>G (p.Gly578=) | |
| 19 | g.41978055G= | CA2336724853 | ATP1A3 | c.1863C= (p.Gly621=) c.1824C= (p.Gly608=) c.1857C= (p.Gly619=) c.1734C= (p.Gly578=) | |
| 19 | g.41978055G>T | CA507586797 | ATP1A3 | c.1863C>A (p.Gly621=) c.1824C>A (p.Gly608=) c.1857C>A (p.Gly619=) c.1734C>A (p.Gly578=) |