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 |
|---|---|---|---|---|---|
| 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.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 |
| X | g.108598760T>G | CA413845719 | COL4A5 | c.1838T>G (p.Leu613Arg) n.1294T>G c.1514T>G (p.Leu505Arg) c.1853T>G (p.Leu618Arg) c.173T>G (p.Leu58Arg) | |
| X | g.108598761C>A | CA517922385 | COL4A5 | c.1839C>A (p.Leu613=) n.1295C>A c.1515C>A (p.Leu505=) c.1854C>A (p.Leu618=) c.174C>A (p.Leu58=) | |
| X | g.108598761C>G | CA517922389 | COL4A5 | c.1839C>G (p.Leu613=) n.1295C>G c.1515C>G (p.Leu505=) c.1854C>G (p.Leu618=) c.174C>G (p.Leu58=) | |
| X | g.108598761C>T | CA517922387 | COL4A5 | c.1839C>T (p.Leu613=) n.1295C>T c.1515C>T (p.Leu505=) c.1854C>T (p.Leu618=) c.174C>T (p.Leu58=) | ClinVar dbSNP |
| X | g.108598762C>A | CA413845720 | COL4A5 | c.1840C>A (p.Pro614Thr) n.1296C>A c.1516C>A (p.Pro506Thr) c.1855C>A (p.Pro619Thr) c.175C>A (p.Pro59Thr) | |
| X | g.108598762C>G | CA413845721 | COL4A5 | c.1840C>G (p.Pro614Ala) n.1296C>G c.1516C>G (p.Pro506Ala) c.1855C>G (p.Pro619Ala) c.175C>G (p.Pro59Ala) | |
| X | g.108598762C>T | CA413845722 | COL4A5 | c.1840C>T (p.Pro614Ser) n.1296C>T c.1516C>T (p.Pro506Ser) c.1855C>T (p.Pro619Ser) c.175C>T (p.Pro59Ser) | COSMIC COSMIC |
| X | g.108598763C>A | CA413845723 | COL4A5 | c.1841C>A (p.Pro614Gln) n.1297C>A c.1517C>A (p.Pro506Gln) c.1856C>A (p.Pro619Gln) c.176C>A (p.Pro59Gln) | |
| X | g.108598763C>G | CA413845724 | COL4A5 | c.1841C>G (p.Pro614Arg) n.1297C>G c.1517C>G (p.Pro506Arg) c.1856C>G (p.Pro619Arg) c.176C>G (p.Pro59Arg) | |
| X | g.108598763C>T | CA413845725 | COL4A5 | c.1841C>T (p.Pro614Leu) n.1297C>T c.1517C>T (p.Pro506Leu) c.1856C>T (p.Pro619Leu) c.176C>T (p.Pro59Leu) | |
| X | g.108598763_108598772delinsCAGGGAATAT | CA2450688827 | COL4A5 | c.1841_1850delinsCAGGGAATAT (p.Pro614=) n.1297_1306delinsCAGGGAATAT c.1517_1526delinsCAGGGAATAT (p.Pro506=) c.1856_1865delinsCAGGGAATAT (p.Pro619=) c.176_185delinsCAGGGAATAT (p.Pro59=) | |
| X | g.108598764A>C | CA517922390 | COL4A5 | c.1842A>C (p.Pro614=) n.1298A>C c.1518A>C (p.Pro506=) c.1857A>C (p.Pro619=) c.177A>C (p.Pro59=) | |
| X | g.108598764A>G | CA517922391 | COL4A5 | c.1842A>G (p.Pro614=) n.1298A>G c.1518A>G (p.Pro506=) c.1857A>G (p.Pro619=) c.177A>G (p.Pro59=) | |
| X | g.108598764A>T | CA517922393 | COL4A5 | c.1842A>T (p.Pro614=) n.1298A>T c.1518A>T (p.Pro506=) c.1857A>T (p.Pro619=) c.177A>T (p.Pro59=) | |
| X | g.108598768_108598776del | CA891843930 | COL4A5 | c.1846_1854del (p.Asn616_Gly618del) n.1302_1310del c.1522_1530del (p.Asn508_Gly510del) c.1861_1869del (p.Asn621_Gly623del) c.181_189del (p.Asn61_Gly63del) | |
| X | g.108598765G>A | CA413845727 | COL4A5 | c.1843G>A (p.Gly615Arg) n.1299G>A c.1519G>A (p.Gly507Arg) c.1858G>A (p.Gly620Arg) c.178G>A (p.Gly60Arg) | ClinVar dbSNP |
| X | g.108598765G>C | CA413845728 | COL4A5 | c.1843G>C (p.Gly615Arg) n.1299G>C c.1519G>C (p.Gly507Arg) c.1858G>C (p.Gly620Arg) c.178G>C (p.Gly60Arg) | |
| X | g.108598765G= | CA2450688828 | COL4A5 | c.1843G= (p.Gly615=) n.1299G= c.1519G= (p.Gly507=) c.1858G= (p.Gly620=) c.178G= (p.Gly60=) | |
| X | g.108598765G>T | CA413845726 | COL4A5 | c.1843G>T (p.Gly615Trp) n.1299G>T c.1519G>T (p.Gly507Trp) c.1858G>T (p.Gly620Trp) c.178G>T (p.Gly60Trp) | |
| X | g.108598767del | CA2695235630 | COL4A5 | c.1845del (p.Asn616IlefsTer2) n.1301del c.1521del (p.Asn508IlefsTer2) c.1860del (p.Asn621IlefsTer2) c.180del (p.Asn61IlefsTer2) | |
| X | g.108598766G>A | CA275123 | COL4A5 | c.1844G>A (p.Gly615Glu) n.1300G>A c.1520G>A (p.Gly507Glu) c.1859G>A (p.Gly620Glu) c.179G>A (p.Gly60Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.108598766G>C | CA413845729 | COL4A5 | c.1844G>C (p.Gly615Ala) n.1300G>C c.1520G>C (p.Gly507Ala) c.1859G>C (p.Gly620Ala) c.179G>C (p.Gly60Ala) | |
| X | g.108598766G= | CA2450688829 | COL4A5 | c.1844G= (p.Gly615=) n.1300G= c.1520G= (p.Gly507=) c.1859G= (p.Gly620=) c.179G= (p.Gly60=) | |
| X | g.108598766G>T | CA413845730 | COL4A5 | c.1844G>T (p.Gly615Val) n.1300G>T c.1520G>T (p.Gly507Val) c.1859G>T (p.Gly620Val) c.179G>T (p.Gly60Val) | |
| X | g.108598767G>A | CA517922397 | COL4A5 | c.1845G>A (p.Gly615=) n.1301G>A c.1521G>A (p.Gly507=) c.1860G>A (p.Gly620=) c.180G>A (p.Gly60=) | dbSNP gnomAD v4 COSMIC |
| X | g.108598767G>C | CA517922399 | COL4A5 | c.1845G>C (p.Gly615=) n.1301G>C c.1521G>C (p.Gly507=) c.1860G>C (p.Gly620=) c.180G>C (p.Gly60=) | ClinVar |
| X | g.108598767G>T | CA517922400 | COL4A5 | c.1845G>T (p.Gly615=) n.1301G>T c.1521G>T (p.Gly507=) c.1860G>T (p.Gly620=) c.180G>T (p.Gly60=) |