| 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.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 |
| X | g.108598716T>G | CA413845628 | COL4A5 | c.1794T>G (p.Phe598Leu) n.1250T>G c.1470T>G (p.Phe490Leu) c.1809T>G (p.Phe603Leu) c.129T>G (p.Phe43Leu) | |
| X | g.108598716T= | CA2450688806 | COL4A5 | c.1794T= (p.Phe598=) n.1250T= c.1470T= (p.Phe490=) c.1809T= (p.Phe603=) c.129T= (p.Phe43=) | |
| X | g.108598717A>C | CA413845629 | COL4A5 | c.1795A>C (p.Lys599Gln) n.1251A>C c.1471A>C (p.Lys491Gln) c.1810A>C (p.Lys604Gln) c.130A>C (p.Lys44Gln) | |
| X | g.108598717A>G | CA413845630 | COL4A5 | c.1795A>G (p.Lys599Glu) n.1251A>G c.1471A>G (p.Lys491Glu) c.1810A>G (p.Lys604Glu) c.130A>G (p.Lys44Glu) | |
| X | g.108598717A>T | CA413845631 | COL4A5 | c.1795A>T (p.Lys599Ter) n.1251A>T c.1471A>T (p.Lys491Ter) c.1810A>T (p.Lys604Ter) c.130A>T (p.Lys44Ter) | |
| X | g.108598718A>C | CA413845632 | COL4A5 | c.1796A>C (p.Lys599Thr) n.1252A>C c.1472A>C (p.Lys491Thr) c.1811A>C (p.Lys604Thr) c.131A>C (p.Lys44Thr) | |
| X | g.108598718A>G | CA413845633 | COL4A5 | c.1796A>G (p.Lys599Arg) n.1252A>G c.1472A>G (p.Lys491Arg) c.1811A>G (p.Lys604Arg) c.131A>G (p.Lys44Arg) | |
| X | g.108598718A>T | CA413845634 | COL4A5 | c.1796A>T (p.Lys599Met) n.1252A>T c.1472A>T (p.Lys491Met) c.1811A>T (p.Lys604Met) c.131A>T (p.Lys44Met) | |
| X | g.108598719G>A | CA517922296 | COL4A5 | c.1797G>A (p.Lys599=) n.1253G>A c.1473G>A (p.Lys491=) c.1812G>A (p.Lys604=) c.132G>A (p.Lys44=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108598719G>C | CA413845635 | COL4A5 | c.1797G>C (p.Lys599Asn) n.1253G>C c.1473G>C (p.Lys491Asn) c.1812G>C (p.Lys604Asn) c.132G>C (p.Lys44Asn) | |
| X | g.108598719G= | CA2450688807 | COL4A5 | c.1797G= (p.Lys599=) n.1253G= c.1473G= (p.Lys491=) c.1812G= (p.Lys604=) c.132G= (p.Lys44=) | |
| X | g.108598719G>T | CA413845636 | COL4A5 | c.1797G>T (p.Lys599Asn) n.1253G>T c.1473G>T (p.Lys491Asn) c.1812G>T (p.Lys604Asn) c.132G>T (p.Lys44Asn) | dbSNP |
| X | g.108598721del | CA2695235626 | COL4A5 | c.1799del (p.Gly600ValfsTer18) n.1255del c.1475del (p.Gly492ValfsTer18) c.1814del (p.Gly605ValfsTer18) c.134del (p.Gly45ValfsTer18) | |
| X | g.108598720G>A | CA413845637 | COL4A5 | c.1798G>A (p.Gly600Ser) n.1254G>A c.1474G>A (p.Gly492Ser) c.1813G>A (p.Gly605Ser) c.133G>A (p.Gly45Ser) | dbSNP |
| X | g.108598720G>C | CA413845638 | COL4A5 | c.1798G>C (p.Gly600Arg) n.1254G>C c.1474G>C (p.Gly492Arg) c.1813G>C (p.Gly605Arg) c.133G>C (p.Gly45Arg) | |
| X | g.108598720G= | CA2450688808 | COL4A5 | c.1798G= (p.Gly600=) n.1254G= c.1474G= (p.Gly492=) c.1813G= (p.Gly605=) c.133G= (p.Gly45=) | |
| X | g.108598720G>T | CA413845639 | COL4A5 | c.1798G>T (p.Gly600Cys) n.1254G>T c.1474G>T (p.Gly492Cys) c.1813G>T (p.Gly605Cys) c.133G>T (p.Gly45Cys) | |
| X | g.108598721G>A | CA413845642 | COL4A5 | c.1799G>A (p.Gly600Asp) n.1255G>A c.1475G>A (p.Gly492Asp) c.1814G>A (p.Gly605Asp) c.134G>A (p.Gly45Asp) | |
| X | g.108598721G>C | CA413845641 | COL4A5 | c.1799G>C (p.Gly600Ala) n.1255G>C c.1475G>C (p.Gly492Ala) c.1814G>C (p.Gly605Ala) c.134G>C (p.Gly45Ala) | |
| X | g.108598721G= | CA2450688809 | COL4A5 | c.1799G= (p.Gly600=) n.1255G= c.1475G= (p.Gly492=) c.1814G= (p.Gly605=) c.134G= (p.Gly45=) | |
| X | g.108598721G>T | CA413845640 | COL4A5 | c.1799G>T (p.Gly600Val) n.1255G>T c.1475G>T (p.Gly492Val) c.1814G>T (p.Gly605Val) c.134G>T (p.Gly45Val) | ClinVar dbSNP |