| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108601460_108601464dup | CA2573055064 | COL4A5 | c.2016_2020dup (p.Asp674AlafsTer6) n.1472_1476dup c.1692_1696dup (p.Asp566AlafsTer6) c.2031_2035dup (p.Asp679AlafsTer6) c.351_355dup (p.Asp119AlafsTer6) | ClinVar dbSNP |
| X | g.108601461_108601462delinsAG | CA2450689757 | COL4A5 | c.2017_2018delinsAG (p.Arg673=) n.1473_1474delinsAG c.1693_1694delinsAG (p.Arg565=) c.2032_2033delinsAG (p.Arg678=) c.352_353delinsAG (p.Arg118=) | |
| X | g.108601462del | CA258594 | COL4A5 | c.2018del (p.Arg673LysfsTer5) n.1474del c.1694del (p.Arg565LysfsTer5) c.2033del (p.Arg678LysfsTer5) c.353del (p.Arg118LysfsTer5) | dbSNP |
| X | g.108601462G>A | CA413846832 | COL4A5 | c.2018G>A (p.Arg673Lys) n.1474G>A c.1694G>A (p.Arg565Lys) c.2033G>A (p.Arg678Lys) c.353G>A (p.Arg118Lys) | |
| X | g.108601462G>C | CA413846833 | COL4A5 | c.2018G>C (p.Arg673Thr) n.1474G>C c.1694G>C (p.Arg565Thr) c.2033G>C (p.Arg678Thr) c.353G>C (p.Arg118Thr) | gnomAD v4 |
| X | g.108601462G= | CA2580701027 | COL4A5 | c.2018G= (p.Arg673=) n.1474G= c.1694G= (p.Arg565=) c.2033G= (p.Arg678=) c.353G= (p.Arg118=) | |
| X | g.108601462G>T | CA413846834 | COL4A5 | c.2018G>T (p.Arg673Ile) n.1474G>T c.1694G>T (p.Arg565Ile) c.2033G>T (p.Arg678Ile) c.353G>T (p.Arg118Ile) | |
| X | g.108601463A= | CA2450689760 | COL4A5 | c.2019A= (p.Arg673=) n.1475A= c.1695A= (p.Arg565=) c.2034A= (p.Arg678=) c.354A= (p.Arg118=) | |
| X | g.108601463A>C | CA413846835 | COL4A5 | c.2019A>C (p.Arg673Ser) n.1475A>C c.1695A>C (p.Arg565Ser) c.2034A>C (p.Arg678Ser) c.354A>C (p.Arg118Ser) | |
| X | g.108601463A>G | CA517922637 | COL4A5 | c.2019A>G (p.Arg673=) n.1475A>G c.1695A>G (p.Arg565=) c.2034A>G (p.Arg678=) c.354A>G (p.Arg118=) | |
| X | g.108601463A>T | CA413846836 | COL4A5 | c.2019A>T (p.Arg673Ser) n.1475A>T c.1695A>T (p.Arg565Ser) c.2034A>T (p.Arg678Ser) c.354A>T (p.Arg118Ser) | ClinVar dbSNP |
| X | g.108601463_108601469delinsAGATGGT | CA2450689759 | COL4A5 | c.2019_2025delinsAGATGGT (p.Arg673=) n.1475_1481delinsAGATGGT c.1695_1701delinsAGATGGT (p.Arg565=) c.2034_2040delinsAGATGGT (p.Arg678=) c.354_360delinsAGATGGT (p.Arg118=) | |
| X | g.108601464G>A | CA413846837 | COL4A5 | c.2020G>A (p.Asp674Asn) n.1476G>A c.1696G>A (p.Asp566Asn) c.2035G>A (p.Asp679Asn) c.355G>A (p.Asp119Asn) | |
| X | g.108601464G>C | CA413846839 | COL4A5 | c.2020G>C (p.Asp674His) n.1476G>C c.1696G>C (p.Asp566His) c.2035G>C (p.Asp679His) c.355G>C (p.Asp119His) | |
| X | g.108601464G>T | CA413846838 | COL4A5 | c.2020G>T (p.Asp674Tyr) n.1476G>T c.1696G>T (p.Asp566Tyr) c.2035G>T (p.Asp679Tyr) c.355G>T (p.Asp119Tyr) | |
| X | g.108601468_108601473del | CA891843933 | COL4A5 | c.2024_2029del (p.Gly675_Asp676del) n.1480_1485del c.1700_1705del (p.Gly567_Asp568del) c.2039_2044del (p.Gly680_Asp681del) c.359_364del (p.Gly120_Asp121del) | ClinVar dbSNP |
| X | g.108601465A>C | CA413846840 | COL4A5 | c.2021A>C (p.Asp674Ala) n.1477A>C c.1697A>C (p.Asp566Ala) c.2036A>C (p.Asp679Ala) c.356A>C (p.Asp119Ala) | |
| X | g.108601465A>G | CA413846841 | COL4A5 | c.2021A>G (p.Asp674Gly) n.1477A>G c.1697A>G (p.Asp566Gly) c.2036A>G (p.Asp679Gly) c.356A>G (p.Asp119Gly) | |
| X | g.108601465A>T | CA413846842 | COL4A5 | c.2021A>T (p.Asp674Val) n.1477A>T c.1697A>T (p.Asp566Val) c.2036A>T (p.Asp679Val) c.356A>T (p.Asp119Val) | |
| X | g.108601466T>A | CA413846843 | COL4A5 | c.2022T>A (p.Asp674Glu) n.1478T>A c.1698T>A (p.Asp566Glu) c.2037T>A (p.Asp679Glu) c.357T>A (p.Asp119Glu) | |
| X | g.108601466T>C | CA517922638 | COL4A5 | c.2022T>C (p.Asp674=) n.1478T>C c.1698T>C (p.Asp566=) c.2037T>C (p.Asp679=) c.357T>C (p.Asp119=) | |
| X | g.108601466T>G | CA413846844 | COL4A5 | c.2022T>G (p.Asp674Glu) n.1478T>G c.1698T>G (p.Asp566Glu) c.2037T>G (p.Asp679Glu) c.357T>G (p.Asp119Glu) | |
| X | g.108601467G>A | CA258595 | COL4A5 | c.2023G>A (p.Gly675Ser) n.1479G>A c.1699G>A (p.Gly567Ser) c.2038G>A (p.Gly680Ser) c.358G>A (p.Gly120Ser) | ClinVar dbSNP |
| X | g.108601467G>C | CA413846845 | COL4A5 | c.2023G>C (p.Gly675Arg) n.1479G>C c.1699G>C (p.Gly567Arg) c.2038G>C (p.Gly680Arg) c.358G>C (p.Gly120Arg) | |
| X | g.108601467G= | CA2450689761 | COL4A5 | c.2023G= (p.Gly675=) n.1479G= c.1699G= (p.Gly567=) c.2038G= (p.Gly680=) c.358G= (p.Gly120=) | |
| X | g.108601467G>T | CA413846846 | COL4A5 | c.2023G>T (p.Gly675Cys) n.1479G>T c.1699G>T (p.Gly567Cys) c.2038G>T (p.Gly680Cys) c.358G>T (p.Gly120Cys) | |
| X | g.108601468G>A | CA413846847 | COL4A5 | c.2024G>A (p.Gly675Asp) n.1480G>A c.1700G>A (p.Gly567Asp) c.2039G>A (p.Gly680Asp) c.359G>A (p.Gly120Asp) | ClinVar |
| X | g.108601468G>C | CA413846848 | COL4A5 | c.2024G>C (p.Gly675Ala) n.1480G>C c.1700G>C (p.Gly567Ala) c.2039G>C (p.Gly680Ala) c.359G>C (p.Gly120Ala) | |
| X | g.108601468G>T | CA413846849 | COL4A5 | c.2024G>T (p.Gly675Val) n.1480G>T c.1700G>T (p.Gly567Val) c.2039G>T (p.Gly680Val) c.359G>T (p.Gly120Val) | |
| X | g.108601469T>A | CA517922639 | COL4A5 | c.2025T>A (p.Gly675=) n.1481T>A c.1701T>A (p.Gly567=) c.2040T>A (p.Gly680=) c.360T>A (p.Gly120=) | |
| X | g.108601469T>C | CA517922641 | COL4A5 | c.2025T>C (p.Gly675=) n.1481T>C c.1701T>C (p.Gly567=) c.2040T>C (p.Gly680=) c.360T>C (p.Gly120=) | |
| X | g.108601469T>G | CA517922640 | COL4A5 | c.2025T>G (p.Gly675=) n.1481T>G c.1701T>G (p.Gly567=) c.2040T>G (p.Gly680=) c.360T>G (p.Gly120=) | |
| X | g.108601470G>A | CA413846852 | COL4A5 | c.2026G>A (p.Asp676Asn) n.1482G>A c.1702G>A (p.Asp568Asn) c.2041G>A (p.Asp681Asn) c.361G>A (p.Asp121Asn) | gnomAD v4 |
| X | g.108601470G>C | CA413846851 | COL4A5 | c.2026G>C (p.Asp676His) n.1482G>C c.1702G>C (p.Asp568His) c.2041G>C (p.Asp681His) c.361G>C (p.Asp121His) | |
| X | g.108601470G>T | CA413846850 | COL4A5 | c.2026G>T (p.Asp676Tyr) n.1482G>T c.1702G>T (p.Asp568Tyr) c.2041G>T (p.Asp681Tyr) c.361G>T (p.Asp121Tyr) | |
| X | g.108601471A= | CA2450689762 | COL4A5 | c.2027A= (p.Asp676=) n.1483A= c.1703A= (p.Asp568=) c.2042A= (p.Asp681=) c.362A= (p.Asp121=) | |
| X | g.108601471A>C | CA10488830 | COL4A5 | c.2027A>C (p.Asp676Ala) n.1483A>C c.1703A>C (p.Asp568Ala) c.2042A>C (p.Asp681Ala) c.362A>C (p.Asp121Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108601471A>G | CA413846853 | COL4A5 | c.2027A>G (p.Asp676Gly) n.1483A>G c.1703A>G (p.Asp568Gly) c.2042A>G (p.Asp681Gly) c.362A>G (p.Asp121Gly) | |
| X | g.108601471A>T | CA413846854 | COL4A5 | c.2027A>T (p.Asp676Val) n.1483A>T c.1703A>T (p.Asp568Val) c.2042A>T (p.Asp681Val) c.362A>T (p.Asp121Val) | |
| X | g.108601471_108601472del | CA2579676355 | COL4A5 | c.2027_2028del (p.Asp676GlyfsTer6) n.1483_1484del c.1703_1704del (p.Asp568GlyfsTer6) c.2042_2043del (p.Asp681GlyfsTer6) c.362_363del (p.Asp121GlyfsTer6) | |
| X | g.108601472T>A | CA413846855 | COL4A5 | c.2028T>A (p.Asp676Glu) n.1484T>A c.1704T>A (p.Asp568Glu) c.2043T>A (p.Asp681Glu) c.363T>A (p.Asp121Glu) | |
| X | g.108601472T>C | CA517922642 | COL4A5 | c.2028T>C (p.Asp676=) n.1484T>C c.1704T>C (p.Asp568=) c.2043T>C (p.Asp681=) c.363T>C (p.Asp121=) | gnomAD v4 |
| X | g.108601472T>G | CA413846856 | COL4A5 | c.2028T>G (p.Asp676Glu) n.1484T>G c.1704T>G (p.Asp568Glu) c.2043T>G (p.Asp681Glu) c.363T>G (p.Asp121Glu) | |
| X | g.108601473G>A | CA413846857 | COL4A5 | c.2029G>A (p.Val677Ile) n.1485G>A c.1705G>A (p.Val569Ile) c.2044G>A (p.Val682Ile) c.364G>A (p.Val122Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108601473G>C | CA413846858 | COL4A5 | c.2029G>C (p.Val677Leu) n.1485G>C c.1705G>C (p.Val569Leu) c.2044G>C (p.Val682Leu) c.364G>C (p.Val122Leu) | |
| X | g.108601473G= | CA2450689763 | COL4A5 | c.2029G= (p.Val677=) n.1485G= c.1705G= (p.Val569=) c.2044G= (p.Val682=) c.364G= (p.Val122=) | |
| X | g.108601473G>T | CA413846859 | COL4A5 | c.2029G>T (p.Val677Leu) n.1485G>T c.1705G>T (p.Val569Leu) c.2044G>T (p.Val682Leu) c.364G>T (p.Val122Leu) | |
| X | g.108601474_108601476dup | CA2580100312 | COL4A5 | c.2030_2032dup (p.Val677_Gly678insVal) n.1486_1488dup c.1706_1708dup (p.Val569_Gly570insVal) c.2045_2047dup (p.Val682_Gly683insVal) c.365_367dup (p.Val122_Gly123insVal) | ClinVar |
| X | g.108601474del | CA2579676356 | COL4A5 | c.2030del (p.Val677GlufsTer?) n.1486del c.1706del (p.Val569GlufsTer?) c.2045del (p.Val682GlufsTer?) c.365del (p.Val122GlufsTer?) | |
| X | g.108601474T>A | CA413846860 | COL4A5 | c.2030T>A (p.Val677Glu) n.1486T>A c.1706T>A (p.Val569Glu) c.2045T>A (p.Val682Glu) c.365T>A (p.Val122Glu) |