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.108598702G>A | CA258543 | COL4A5 | c.1780G>A (p.Gly594Ser) n.1236G>A c.1456G>A (p.Gly486Ser) c.1795G>A (p.Gly599Ser) c.115G>A (p.Gly39Ser) | dbSNP |
X | g.108598702G>C | CA413845598 | COL4A5 | c.1780G>C (p.Gly594Arg) n.1236G>C c.1456G>C (p.Gly486Arg) c.1795G>C (p.Gly599Arg) c.115G>C (p.Gly39Arg) | |
X | g.108598702G= | CA2450688801 | COL4A5 | c.1780G= (p.Gly594=) n.1236G= c.1456G= (p.Gly486=) c.1795G= (p.Gly599=) c.115G= (p.Gly39=) | |
X | g.108598702G>T | CA413845599 | COL4A5 | c.1780G>T (p.Gly594Cys) n.1236G>T c.1456G>T (p.Gly486Cys) c.1795G>T (p.Gly599Cys) c.115G>T (p.Gly39Cys) | |
X | g.108598703G>A | CA413845600 | COL4A5 | c.1781G>A (p.Gly594Asp) n.1237G>A c.1457G>A (p.Gly486Asp) c.1796G>A (p.Gly599Asp) c.116G>A (p.Gly39Asp) | gnomAD v4 |
X | g.108598703G>C | CA413845601 | COL4A5 | c.1781G>C (p.Gly594Ala) n.1237G>C c.1457G>C (p.Gly486Ala) c.1796G>C (p.Gly599Ala) c.116G>C (p.Gly39Ala) | |
X | g.108598703G= | CA2450688802 | COL4A5 | c.1781G= (p.Gly594=) n.1237G= c.1457G= (p.Gly486=) c.1796G= (p.Gly599=) c.116G= (p.Gly39=) | |
X | g.108598703G>T | CA413845602 | COL4A5 | c.1781G>T (p.Gly594Val) n.1237G>T c.1457G>T (p.Gly486Val) c.1796G>T (p.Gly599Val) c.116G>T (p.Gly39Val) | |
X | g.108598704T>A | CA517922285 | COL4A5 | c.1782T>A (p.Gly594=) n.1238T>A c.1458T>A (p.Gly486=) c.1797T>A (p.Gly599=) c.117T>A (p.Gly39=) | |
X | g.108598704T>C | CA517922286 | COL4A5 | c.1782T>C (p.Gly594=) n.1238T>C c.1458T>C (p.Gly486=) c.1797T>C (p.Gly599=) c.117T>C (p.Gly39=) | |
X | g.108598704T>G | CA517922287 | COL4A5 | c.1782T>G (p.Gly594=) n.1238T>G c.1458T>G (p.Gly486=) c.1797T>G (p.Gly599=) c.117T>G (p.Gly39=) | |
X | g.108598705G>A | CA258546 | COL4A5 | c.1783G>A (p.Gly595Arg) n.1239G>A c.1459G>A (p.Gly487Arg) c.1798G>A (p.Gly600Arg) c.118G>A (p.Gly40Arg) | dbSNP |
X | g.108598705G>C | CA413845603 | COL4A5 | c.1783G>C (p.Gly595Arg) n.1239G>C c.1459G>C (p.Gly487Arg) c.1798G>C (p.Gly600Arg) c.118G>C (p.Gly40Arg) | |
X | g.108598705G= | CA2450688803 | COL4A5 | c.1783G= (p.Gly595=) n.1239G= c.1459G= (p.Gly487=) c.1798G= (p.Gly600=) c.118G= (p.Gly40=) | |
X | g.108598705G>T | CA413845604 | COL4A5 | c.1783G>T (p.Gly595Ter) n.1239G>T c.1459G>T (p.Gly487Ter) c.1798G>T (p.Gly600Ter) c.118G>T (p.Gly40Ter) | |
X | g.108598706G>A | CA413845605 | COL4A5 | c.1784G>A (p.Gly595Glu) n.1240G>A c.1460G>A (p.Gly487Glu) c.1799G>A (p.Gly600Glu) c.119G>A (p.Gly40Glu) | |
X | g.108598706G>C | CA413845606 | COL4A5 | c.1784G>C (p.Gly595Ala) n.1240G>C c.1460G>C (p.Gly487Ala) c.1799G>C (p.Gly600Ala) c.119G>C (p.Gly40Ala) | |
X | g.108598706G>T | CA413845607 | COL4A5 | c.1784G>T (p.Gly595Val) n.1240G>T c.1460G>T (p.Gly487Val) c.1799G>T (p.Gly600Val) c.119G>T (p.Gly40Val) | |
X | g.108598707A>C | CA517922289 | COL4A5 | c.1785A>C (p.Gly595=) n.1241A>C c.1461A>C (p.Gly487=) c.1800A>C (p.Gly600=) c.120A>C (p.Gly40=) | |
X | g.108598707A>G | CA500011 | COL4A5 | c.1785A>G (p.Gly595=) n.1241A>G c.1461A>G (p.Gly487=) c.1800A>G (p.Gly600=) c.120A>G (p.Gly40=) | gnomAD v4 |
X | g.108598707A>T | CA517922288 | COL4A5 | c.1785A>T (p.Gly595=) n.1241A>T c.1461A>T (p.Gly487=) c.1800A>T (p.Gly600=) c.120A>T (p.Gly40=) | |
X | g.108598708A>C | CA413845608 | COL4A5 | c.1786A>C (p.Ile596Leu) n.1242A>C c.1462A>C (p.Ile488Leu) c.1801A>C (p.Ile601Leu) c.121A>C (p.Ile41Leu) | |
X | g.108598708A>G | CA413845610 | COL4A5 | c.1786A>G (p.Ile596Val) n.1242A>G c.1462A>G (p.Ile488Val) c.1801A>G (p.Ile601Val) c.121A>G (p.Ile41Val) | |
X | g.108598708A>T | CA413845609 | COL4A5 | c.1786A>T (p.Ile596Phe) n.1242A>T c.1462A>T (p.Ile488Phe) c.1801A>T (p.Ile601Phe) c.121A>T (p.Ile41Phe) | |
X | g.108598709T>A | CA413845611 | COL4A5 | c.1787T>A (p.Ile596Asn) n.1243T>A c.1463T>A (p.Ile488Asn) c.1802T>A (p.Ile601Asn) c.122T>A (p.Ile41Asn) | |
X | g.108598709T>C | CA413845613 | COL4A5 | c.1787T>C (p.Ile596Thr) n.1243T>C c.1463T>C (p.Ile488Thr) c.1802T>C (p.Ile601Thr) c.122T>C (p.Ile41Thr) | |
X | g.108598709T>G | CA413845612 | COL4A5 | c.1787T>G (p.Ile596Ser) n.1243T>G c.1463T>G (p.Ile488Ser) c.1802T>G (p.Ile601Ser) c.122T>G (p.Ile41Ser) | |
X | g.108598710T>A | CA517922291 | COL4A5 | c.1788T>A (p.Ile596=) n.1244T>A c.1464T>A (p.Ile488=) c.1803T>A (p.Ile601=) c.123T>A (p.Ile41=) | |
X | g.108598710T>C | CA517922290 | COL4A5 | c.1788T>C (p.Ile596=) n.1244T>C c.1464T>C (p.Ile488=) c.1803T>C (p.Ile601=) c.123T>C (p.Ile41=) | |
X | g.108598710T>G | CA413845614 | COL4A5 | c.1788T>G (p.Ile596Met) n.1244T>G c.1464T>G (p.Ile488Met) c.1803T>G (p.Ile601Met) c.123T>G (p.Ile41Met) | |
X | g.108598711A= | CA2450688804 | COL4A5 | c.1789A= (p.Thr597=) n.1245A= c.1465A= (p.Thr489=) c.1804A= (p.Thr602=) c.124A= (p.Thr42=) | |
X | g.108598711A>C | CA413845615 | COL4A5 | c.1789A>C (p.Thr597Pro) n.1245A>C c.1465A>C (p.Thr489Pro) c.1804A>C (p.Thr602Pro) c.124A>C (p.Thr42Pro) | |
X | g.108598711A>G | CA413845616 | COL4A5 | c.1789A>G (p.Thr597Ala) n.1245A>G c.1465A>G (p.Thr489Ala) c.1804A>G (p.Thr602Ala) c.124A>G (p.Thr42Ala) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108598711A>T | CA413845617 | COL4A5 | c.1789A>T (p.Thr597Ser) n.1245A>T c.1465A>T (p.Thr489Ser) c.1804A>T (p.Thr602Ser) c.124A>T (p.Thr42Ser) | gnomAD v4 |
X | g.108598712C>A | CA413845618 | COL4A5 | c.1790C>A (p.Thr597Asn) n.1246C>A c.1466C>A (p.Thr489Asn) c.1805C>A (p.Thr602Asn) c.125C>A (p.Thr42Asn) | COSMIC |
X | g.108598712C= | CA2450688805 | COL4A5 | c.1790C= (p.Thr597=) n.1246C= c.1466C= (p.Thr489=) c.1805C= (p.Thr602=) c.125C= (p.Thr42=) | |
X | g.108598712C>G | CA413845619 | COL4A5 | c.1790C>G (p.Thr597Ser) n.1246C>G c.1466C>G (p.Thr489Ser) c.1805C>G (p.Thr602Ser) c.125C>G (p.Thr42Ser) | |
X | g.108598712C>T | CA413845620 | COL4A5 | c.1790C>T (p.Thr597Ile) n.1246C>T c.1466C>T (p.Thr489Ile) c.1805C>T (p.Thr602Ile) c.125C>T (p.Thr42Ile) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108598713T>A | CA517922292 | COL4A5 | c.1791T>A (p.Thr597=) n.1247T>A c.1467T>A (p.Thr489=) c.1806T>A (p.Thr602=) c.126T>A (p.Thr42=) | |
X | g.108598713T>C | CA517922294 | COL4A5 | c.1791T>C (p.Thr597=) n.1247T>C c.1467T>C (p.Thr489=) c.1806T>C (p.Thr602=) c.126T>C (p.Thr42=) | |
X | g.108598713T>G | CA517922293 | COL4A5 | c.1791T>G (p.Thr597=) n.1247T>G c.1467T>G (p.Thr489=) c.1806T>G (p.Thr602=) c.126T>G (p.Thr42=) | |
X | g.108598714T>A | CA413845621 | COL4A5 | c.1792T>A (p.Phe598Ile) n.1248T>A c.1468T>A (p.Phe490Ile) c.1807T>A (p.Phe603Ile) c.127T>A (p.Phe43Ile) | |
X | g.108598714T>C | CA413845622 | COL4A5 | c.1792T>C (p.Phe598Leu) n.1248T>C c.1468T>C (p.Phe490Leu) c.1807T>C (p.Phe603Leu) c.127T>C (p.Phe43Leu) | |
X | g.108598714T>G | CA413845623 | COL4A5 | c.1792T>G (p.Phe598Val) n.1248T>G c.1468T>G (p.Phe490Val) c.1807T>G (p.Phe603Val) c.127T>G (p.Phe43Val) | |
X | g.108598715T>A | CA413845624 | COL4A5 | c.1793T>A (p.Phe598Tyr) n.1249T>A c.1469T>A (p.Phe490Tyr) c.1808T>A (p.Phe603Tyr) c.128T>A (p.Phe43Tyr) | |
X | g.108598715T>C | CA413845625 | COL4A5 | c.1793T>C (p.Phe598Ser) n.1249T>C c.1469T>C (p.Phe490Ser) c.1808T>C (p.Phe603Ser) c.128T>C (p.Phe43Ser) | |
X | g.108598715T>G | CA413845626 | COL4A5 | c.1793T>G (p.Phe598Cys) n.1249T>G c.1469T>G (p.Phe490Cys) c.1808T>G (p.Phe603Cys) c.128T>G (p.Phe43Cys) | |
X | g.108598716T>A | CA413845627 | COL4A5 | c.1794T>A (p.Phe598Leu) n.1250T>A c.1470T>A (p.Phe490Leu) c.1809T>A (p.Phe603Leu) c.129T>A (p.Phe43Leu) | dbSNP gnomAD v4 |
X | g.108598716T>C | CA517922295 | COL4A5 | c.1794T>C (p.Phe598=) n.1250T>C c.1470T>C (p.Phe490=) c.1809T>C (p.Phe603=) c.129T>C (p.Phe43=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |