| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108597528_108598968del | CA258538 | COL4A5 | c.1739_1948+98del n.1195_1404+98del c.1415_1624+98del c.1754_1963+98del c.74_283+98del | |
| X | g.108598740_108598793del | CA2580100305 | COL4A5 | c.1818_1871del (p.Asn607_Gly624del) n.1274_1327del c.1494_1547del (p.Asn499_Gly516del) c.1833_1886del (p.Asn612_Gly629del) c.153_206del (p.Asn52_Gly69del) | ClinVar |
| X | g.108598743_108598751del | CA2522882905 | COL4A5 | c.1821_1829del (p.Asn607_Leu610delinsLys) n.1277_1285del c.1497_1505del (p.Asn499_Leu502delinsLys) c.1836_1844del (p.Asn612_Leu615delinsLys) c.156_164del (p.Asn52_Leu55delinsLys) | |
| X | g.108598748G>A | CA413845694 | COL4A5 | c.1826G>A (p.Gly609Asp) n.1282G>A c.1502G>A (p.Gly501Asp) c.1841G>A (p.Gly614Asp) c.161G>A (p.Gly54Asp) | |
| X | g.108598748G>C | CA413845695 | COL4A5 | c.1826G>C (p.Gly609Ala) n.1282G>C c.1502G>C (p.Gly501Ala) c.1841G>C (p.Gly614Ala) c.161G>C (p.Gly54Ala) | ClinVar dbSNP |
| X | g.108598748G= | CA2450688819 | COL4A5 | c.1826G= (p.Gly609=) n.1282G= c.1502G= (p.Gly501=) c.1841G= (p.Gly614=) c.161G= (p.Gly54=) | |
| X | g.108598748G>T | CA258553 | COL4A5 | c.1826G>T (p.Gly609Val) n.1282G>T c.1502G>T (p.Gly501Val) c.1841G>T (p.Gly614Val) c.161G>T (p.Gly54Val) | dbSNP |
| X | g.108598749T>A | CA10488801 | COL4A5 | c.1827T>A (p.Gly609=) n.1283T>A c.1503T>A (p.Gly501=) c.1842T>A (p.Gly614=) c.162T>A (p.Gly54=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108598749T>C | CA517922369 | COL4A5 | c.1827T>C (p.Gly609=) n.1283T>C c.1503T>C (p.Gly501=) c.1842T>C (p.Gly614=) c.162T>C (p.Gly54=) | |
| X | g.108598749T>G | CA517922370 | COL4A5 | c.1827T>G (p.Gly609=) n.1283T>G c.1503T>G (p.Gly501=) c.1842T>G (p.Gly614=) c.162T>G (p.Gly54=) | |
| X | g.108598749T= | CA2450688820 | COL4A5 | c.1827T= (p.Gly609=) n.1283T= c.1503T= (p.Gly501=) c.1842T= (p.Gly614=) c.162T= (p.Gly54=) | |
| X | g.108598750T>A | CA413845696 | COL4A5 | c.1828T>A (p.Leu610Ile) n.1284T>A c.1504T>A (p.Leu502Ile) c.1843T>A (p.Leu615Ile) c.163T>A (p.Leu55Ile) | |
| X | g.108598750T>C | CA517922371 | COL4A5 | c.1828T>C (p.Leu610=) n.1284T>C c.1504T>C (p.Leu502=) c.1843T>C (p.Leu615=) c.163T>C (p.Leu55=) | ClinVar dbSNP |
| X | g.108598750T>G | CA413845697 | COL4A5 | c.1828T>G (p.Leu610Val) n.1284T>G c.1504T>G (p.Leu502Val) c.1843T>G (p.Leu615Val) c.163T>G (p.Leu55Val) | |
| X | g.108598751T>A | CA413845700 | COL4A5 | c.1829T>A (p.Leu610Ter) n.1285T>A c.1505T>A (p.Leu502Ter) c.1844T>A (p.Leu615Ter) c.164T>A (p.Leu55Ter) | dbSNP |
| X | g.108598751T>C | CA413845699 | COL4A5 | c.1829T>C (p.Leu610Ser) n.1285T>C c.1505T>C (p.Leu502Ser) c.1844T>C (p.Leu615Ser) c.164T>C (p.Leu55Ser) | |
| X | g.108598751T>G | CA413845698 | COL4A5 | c.1829T>G (p.Leu610Ter) n.1285T>G c.1505T>G (p.Leu502Ter) c.1844T>G (p.Leu615Ter) c.164T>G (p.Leu55Ter) | |
| X | g.108598751T= | CA2450688821 | COL4A5 | c.1829T= (p.Leu610=) n.1285T= c.1505T= (p.Leu502=) c.1844T= (p.Leu615=) c.164T= (p.Leu55=) | |
| X | g.108598752A= | CA2450688822 | COL4A5 | c.1830A= (p.Leu610=) n.1286A= c.1506A= (p.Leu502=) c.1845A= (p.Leu615=) c.165A= (p.Leu55=) | |
| X | g.108598752A>C | CA413845701 | COL4A5 | c.1830A>C (p.Leu610Phe) n.1286A>C c.1506A>C (p.Leu502Phe) c.1845A>C (p.Leu615Phe) c.165A>C (p.Leu55Phe) | |
| X | g.108598752A>G | CA517922375 | COL4A5 | c.1830A>G (p.Leu610=) n.1286A>G c.1506A>G (p.Leu502=) c.1845A>G (p.Leu615=) c.165A>G (p.Leu55=) | |
| X | g.108598752A>T | CA413845702 | COL4A5 | c.1830A>T (p.Leu610Phe) n.1286A>T c.1506A>T (p.Leu502Phe) c.1845A>T (p.Leu615Phe) c.165A>T (p.Leu55Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108598753C>A | CA413845703 | COL4A5 | c.1831C>A (p.Pro611Thr) n.1287C>A c.1507C>A (p.Pro503Thr) c.1846C>A (p.Pro616Thr) c.166C>A (p.Pro56Thr) | |
| X | g.108598753C>G | CA413845704 | COL4A5 | c.1831C>G (p.Pro611Ala) n.1287C>G c.1507C>G (p.Pro503Ala) c.1846C>G (p.Pro616Ala) c.166C>G (p.Pro56Ala) | |
| X | g.108598753C>T | CA413845705 | COL4A5 | c.1831C>T (p.Pro611Ser) n.1287C>T c.1507C>T (p.Pro503Ser) c.1846C>T (p.Pro616Ser) c.166C>T (p.Pro56Ser) | |
| X | g.108598754C>A | CA413845706 | COL4A5 | c.1832C>A (p.Pro611Gln) n.1288C>A c.1508C>A (p.Pro503Gln) c.1847C>A (p.Pro616Gln) c.167C>A (p.Pro56Gln) | |
| X | g.108598754C= | CA2450688823 | COL4A5 | c.1832C= (p.Pro611=) n.1288C= c.1508C= (p.Pro503=) c.1847C= (p.Pro616=) c.167C= (p.Pro56=) | |
| X | g.108598754C>G | CA413845707 | COL4A5 | c.1832C>G (p.Pro611Arg) n.1288C>G c.1508C>G (p.Pro503Arg) c.1847C>G (p.Pro616Arg) c.167C>G (p.Pro56Arg) | |
| X | g.108598754C>T | CA413845708 | COL4A5 | c.1832C>T (p.Pro611Leu) n.1288C>T c.1508C>T (p.Pro503Leu) c.1847C>T (p.Pro616Leu) c.167C>T (p.Pro56Leu) | dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.108598755A= | CA2450688824 | COL4A5 | c.1833A= (p.Pro611=) n.1289A= c.1509A= (p.Pro503=) c.1848A= (p.Pro616=) c.168A= (p.Pro56=) | |
| X | g.108598755A>C | CA517922376 | COL4A5 | c.1833A>C (p.Pro611=) n.1289A>C c.1509A>C (p.Pro503=) c.1848A>C (p.Pro616=) c.168A>C (p.Pro56=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108598755A>G | CA517922377 | COL4A5 | c.1833A>G (p.Pro611=) n.1289A>G c.1509A>G (p.Pro503=) c.1848A>G (p.Pro616=) c.168A>G (p.Pro56=) | ClinVar |
| X | g.108598755A>T | CA517922378 | COL4A5 | c.1833A>T (p.Pro611=) n.1289A>T c.1509A>T (p.Pro503=) c.1848A>T (p.Pro616=) c.168A>T (p.Pro56=) | |
| X | g.108598755dup | CA2694412577 | COL4A5 | c.1833dup (p.Gly612ArgfsTer22) n.1289dup c.1509dup (p.Gly504ArgfsTer22) c.1848dup (p.Gly617ArgfsTer22) c.168dup (p.Gly57ArgfsTer22) | gnomAD v4 |
| X | g.108598756G>A | CA413845709 | COL4A5 | c.1834G>A (p.Gly612Ser) n.1290G>A c.1510G>A (p.Gly504Ser) c.1849G>A (p.Gly617Ser) c.169G>A (p.Gly57Ser) | |
| X | g.108598756G>C | CA413845710 | COL4A5 | c.1834G>C (p.Gly612Arg) n.1290G>C c.1510G>C (p.Gly504Arg) c.1849G>C (p.Gly617Arg) c.169G>C (p.Gly57Arg) | ClinVar |
| X | g.108598756G>T | CA413845711 | COL4A5 | c.1834G>T (p.Gly612Cys) n.1290G>T c.1510G>T (p.Gly504Cys) c.1849G>T (p.Gly617Cys) c.169G>T (p.Gly57Cys) | COSMIC COSMIC |
| X | g.108598757G>A | CA261063 | COL4A5 | c.1835G>A (p.Gly612Asp) n.1291G>A c.1511G>A (p.Gly504Asp) c.1850G>A (p.Gly617Asp) c.170G>A (p.Gly57Asp) | ClinVar dbSNP |
| X | g.108598757G>C | CA413845713 | COL4A5 | c.1835G>C (p.Gly612Ala) n.1291G>C c.1511G>C (p.Gly504Ala) c.1850G>C (p.Gly617Ala) c.170G>C (p.Gly57Ala) | |
| X | g.108598757G= | CA2450688825 | COL4A5 | c.1835G= (p.Gly612=) n.1291G= c.1511G= (p.Gly504=) c.1850G= (p.Gly617=) c.170G= (p.Gly57=) | |
| X | g.108598757G>T | CA413845712 | COL4A5 | c.1835G>T (p.Gly612Val) n.1291G>T c.1511G>T (p.Gly504Val) c.1850G>T (p.Gly617Val) c.170G>T (p.Gly57Val) | |
| X | g.108598758C>A | CA517922380 | COL4A5 | c.1836C>A (p.Gly612=) n.1292C>A c.1512C>A (p.Gly504=) c.1851C>A (p.Gly617=) c.171C>A (p.Gly57=) | |
| X | g.108598758C= | CA2450688826 | COL4A5 | c.1836C= (p.Gly612=) n.1292C= c.1512C= (p.Gly504=) c.1851C= (p.Gly617=) c.171C= (p.Gly57=) | |
| X | g.108598758C>G | CA517922381 | COL4A5 | c.1836C>G (p.Gly612=) n.1292C>G c.1512C>G (p.Gly504=) c.1851C>G (p.Gly617=) c.171C>G (p.Gly57=) | |
| X | g.108598758C>T | CA517922382 | COL4A5 | c.1836C>T (p.Gly612=) n.1292C>T c.1512C>T (p.Gly504=) c.1851C>T (p.Gly617=) c.171C>T (p.Gly57=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108598759C>A | CA413845714 | COL4A5 | c.1837C>A (p.Leu613Ile) n.1293C>A c.1513C>A (p.Leu505Ile) c.1852C>A (p.Leu618Ile) c.172C>A (p.Leu58Ile) | gnomAD v4 |
| X | g.108598759C>G | CA413845715 | COL4A5 | c.1837C>G (p.Leu613Val) n.1293C>G c.1513C>G (p.Leu505Val) c.1852C>G (p.Leu618Val) c.172C>G (p.Leu58Val) | |
| X | g.108598759C>T | CA413845716 | COL4A5 | c.1837C>T (p.Leu613Phe) n.1293C>T c.1513C>T (p.Leu505Phe) c.1852C>T (p.Leu618Phe) c.172C>T (p.Leu58Phe) | |
| X | g.108598760T>A | CA413845717 | COL4A5 | c.1838T>A (p.Leu613His) n.1294T>A c.1514T>A (p.Leu505His) c.1853T>A (p.Leu618His) c.173T>A (p.Leu58His) | |
| X | g.108598760T>C | CA413845718 | COL4A5 | c.1838T>C (p.Leu613Pro) n.1294T>C c.1514T>C (p.Leu505Pro) c.1853T>C (p.Leu618Pro) c.173T>C (p.Leu58Pro) | gnomAD v4 |