| 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.108598793G>A | CA258560 | COL4A5 | c.1871G>A (p.Gly624Asp) n.1327G>A c.1547G>A (p.Gly516Asp) c.1886G>A (p.Gly629Asp) c.206G>A (p.Gly69Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108598793G>C | CA413845782 | COL4A5 | c.1871G>C (p.Gly624Ala) n.1327G>C c.1547G>C (p.Gly516Ala) c.1886G>C (p.Gly629Ala) c.206G>C (p.Gly69Ala) | |
| X | g.108598793G= | CA2450688843 | COL4A5 | c.1871G= (p.Gly624=) n.1327G= c.1547G= (p.Gly516=) c.1886G= (p.Gly629=) c.206G= (p.Gly69=) | |
| X | g.108598793G>T | CA413845781 | COL4A5 | c.1871G>T (p.Gly624Val) n.1327G>T c.1547G>T (p.Gly516Val) c.1886G>T (p.Gly629Val) c.206G>T (p.Gly69Val) | ClinVar dbSNP |
| X | g.108598794T>A | CA517922438 | COL4A5 | c.1872T>A (p.Gly624=) n.1328T>A c.1548T>A (p.Gly516=) c.1887T>A (p.Gly629=) c.207T>A (p.Gly69=) | |
| X | g.108598794T>C | CA517922439 | COL4A5 | c.1872T>C (p.Gly624=) n.1328T>C c.1548T>C (p.Gly516=) c.1887T>C (p.Gly629=) c.207T>C (p.Gly69=) | |
| X | g.108598794T>G | CA517922440 | COL4A5 | c.1872T>G (p.Gly624=) n.1328T>G c.1548T>G (p.Gly516=) c.1887T>G (p.Gly629=) c.207T>G (p.Gly69=) | |
| X | g.108598794_108598795insGA | CA2568587869 | COL4A5 | c.1872_1873insGA (p.Phe625AspfsTer8) n.1328_1329insGA c.1548_1549insGA (p.Phe517AspfsTer8) c.1887_1888insGA (p.Phe630AspfsTer8) c.207_208insGA (p.Phe70AspfsTer8) | |
| X | g.108598795T>A | CA413845783 | COL4A5 | c.1873T>A (p.Phe625Ile) n.1329T>A c.1549T>A (p.Phe517Ile) c.1888T>A (p.Phe630Ile) c.208T>A (p.Phe70Ile) | |
| X | g.108598795T>C | CA413845784 | COL4A5 | c.1873T>C (p.Phe625Leu) n.1329T>C c.1549T>C (p.Phe517Leu) c.1888T>C (p.Phe630Leu) c.208T>C (p.Phe70Leu) | |
| X | g.108598795T>G | CA413845785 | COL4A5 | c.1873T>G (p.Phe625Val) n.1329T>G c.1549T>G (p.Phe517Val) c.1888T>G (p.Phe630Val) c.208T>G (p.Phe70Val) | |
| X | g.108598796T>A | CA413845786 | COL4A5 | c.1874T>A (p.Phe625Tyr) n.1330T>A c.1550T>A (p.Phe517Tyr) c.1889T>A (p.Phe630Tyr) c.209T>A (p.Phe70Tyr) | |
| X | g.108598796T>C | CA413845787 | COL4A5 | c.1874T>C (p.Phe625Ser) n.1330T>C c.1550T>C (p.Phe517Ser) c.1889T>C (p.Phe630Ser) c.209T>C (p.Phe70Ser) | |
| X | g.108598796T>G | CA413845788 | COL4A5 | c.1874T>G (p.Phe625Cys) n.1330T>G c.1550T>G (p.Phe517Cys) c.1889T>G (p.Phe630Cys) c.209T>G (p.Phe70Cys) | |
| X | g.108598797C>A | CA413845789 | COL4A5 | c.1875C>A (p.Phe625Leu) n.1331C>A c.1551C>A (p.Phe517Leu) c.1890C>A (p.Phe630Leu) c.210C>A (p.Phe70Leu) | |
| X | g.108598797C= | CA2450688844 | COL4A5 | c.1875C= (p.Phe625=) n.1331C= c.1551C= (p.Phe517=) c.1890C= (p.Phe630=) c.210C= (p.Phe70=) | |
| X | g.108598797C>G | CA413845790 | COL4A5 | c.1875C>G (p.Phe625Leu) n.1331C>G c.1551C>G (p.Phe517Leu) c.1890C>G (p.Phe630Leu) c.210C>G (p.Phe70Leu) | |
| X | g.108598797C>T | CA517922441 | COL4A5 | c.1875C>T (p.Phe625=) n.1331C>T c.1551C>T (p.Phe517=) c.1890C>T (p.Phe630=) c.210C>T (p.Phe70=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108598798G>A | CA10488805 | COL4A5 | c.1876G>A (p.Gly626Ser) n.1332G>A c.1552G>A (p.Gly518Ser) c.1891G>A (p.Gly631Ser) c.211G>A (p.Gly71Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108598798G>C | CA413845791 | COL4A5 | c.1876G>C (p.Gly626Arg) n.1332G>C c.1552G>C (p.Gly518Arg) c.1891G>C (p.Gly631Arg) c.211G>C (p.Gly71Arg) | |
| X | g.108598798G= | CA2450688845 | COL4A5 | c.1876G= (p.Gly626=) n.1332G= c.1552G= (p.Gly518=) c.1891G= (p.Gly631=) c.211G= (p.Gly71=) | |
| X | g.108598798G>T | CA413845792 | COL4A5 | c.1876G>T (p.Gly626Cys) n.1332G>T c.1552G>T (p.Gly518Cys) c.1891G>T (p.Gly631Cys) c.211G>T (p.Gly71Cys) | |
| X | g.108598799G>A | CA413845794 | COL4A5 | c.1877G>A (p.Gly626Asp) n.1333G>A c.1553G>A (p.Gly518Asp) c.1892G>A (p.Gly631Asp) c.212G>A (p.Gly71Asp) | |
| X | g.108598799G>C | CA258562 | COL4A5 | c.1877G>C (p.Gly626Ala) n.1333G>C c.1553G>C (p.Gly518Ala) c.1892G>C (p.Gly631Ala) c.212G>C (p.Gly71Ala) | dbSNP |
| X | g.108598799G= | CA2450688846 | COL4A5 | c.1877G= (p.Gly626=) n.1333G= c.1553G= (p.Gly518=) c.1892G= (p.Gly631=) c.212G= (p.Gly71=) | |
| X | g.108598799G>T | CA413845793 | COL4A5 | c.1877G>T (p.Gly626Val) n.1333G>T c.1553G>T (p.Gly518Val) c.1892G>T (p.Gly631Val) c.212G>T (p.Gly71Val) | ClinVar dbSNP |
| X | g.108598800C>A | CA517922442 | COL4A5 | c.1878C>A (p.Gly626=) n.1334C>A c.1554C>A (p.Gly518=) c.1893C>A (p.Gly631=) c.213C>A (p.Gly71=) | |
| X | g.108598800C>G | CA517922443 | COL4A5 | c.1878C>G (p.Gly626=) n.1334C>G c.1554C>G (p.Gly518=) c.1893C>G (p.Gly631=) c.213C>G (p.Gly71=) | |
| X | g.108598800C>T | CA517922444 | COL4A5 | c.1878C>T (p.Gly626=) n.1334C>T c.1554C>T (p.Gly518=) c.1893C>T (p.Gly631=) c.213C>T (p.Gly71=) | |
| X | g.108598801C>A | CA413845795 | COL4A5 | c.1879C>A (p.Pro627Thr) n.1335C>A c.1555C>A (p.Pro519Thr) c.1894C>A (p.Pro632Thr) c.214C>A (p.Pro72Thr) | |
| X | g.108598801C>G | CA413845796 | COL4A5 | c.1879C>G (p.Pro627Ala) n.1335C>G c.1555C>G (p.Pro519Ala) c.1894C>G (p.Pro632Ala) c.214C>G (p.Pro72Ala) | |
| X | g.108598801C>T | CA413845797 | COL4A5 | c.1879C>T (p.Pro627Ser) n.1335C>T c.1555C>T (p.Pro519Ser) c.1894C>T (p.Pro632Ser) c.214C>T (p.Pro72Ser) | gnomAD v4 |
| X | g.108598802C>A | CA413845798 | COL4A5 | c.1880C>A (p.Pro627His) n.1336C>A c.1556C>A (p.Pro519His) c.1895C>A (p.Pro632His) c.215C>A (p.Pro72His) | |
| X | g.108598802C>G | CA413845799 | COL4A5 | c.1880C>G (p.Pro627Arg) n.1336C>G c.1556C>G (p.Pro519Arg) c.1895C>G (p.Pro632Arg) c.215C>G (p.Pro72Arg) | |
| X | g.108598802C>T | CA413845800 | COL4A5 | c.1880C>T (p.Pro627Leu) n.1336C>T c.1556C>T (p.Pro519Leu) c.1895C>T (p.Pro632Leu) c.215C>T (p.Pro72Leu) | COSMIC COSMIC |
| X | g.108598803T>A | CA517922445 | COL4A5 | c.1881T>A (p.Pro627=) n.1337T>A c.1557T>A (p.Pro519=) c.1896T>A (p.Pro632=) c.216T>A (p.Pro72=) | |
| X | g.108598803T>C | CA517922447 | COL4A5 | c.1881T>C (p.Pro627=) n.1337T>C c.1557T>C (p.Pro519=) c.1896T>C (p.Pro632=) c.216T>C (p.Pro72=) | |
| X | g.108598803T>G | CA517922446 | COL4A5 | c.1881T>G (p.Pro627=) n.1337T>G c.1557T>G (p.Pro519=) c.1896T>G (p.Pro632=) c.216T>G (p.Pro72=) | dbSNP |
| X | g.108598803T= | CA2450688847 | COL4A5 | c.1881T= (p.Pro627=) n.1337T= c.1557T= (p.Pro519=) c.1896T= (p.Pro632=) c.216T= (p.Pro72=) | |
| X | g.108598804C>A | CA413845801 | COL4A5 | c.1882C>A (p.Pro628Thr) n.1338C>A c.1558C>A (p.Pro520Thr) c.1897C>A (p.Pro633Thr) c.217C>A (p.Pro73Thr) | |
| X | g.108598804C>G | CA413845802 | COL4A5 | c.1882C>G (p.Pro628Ala) n.1338C>G c.1558C>G (p.Pro520Ala) c.1897C>G (p.Pro633Ala) c.217C>G (p.Pro73Ala) | |
| X | g.108598804C>T | CA413845803 | COL4A5 | c.1882C>T (p.Pro628Ser) n.1338C>T c.1558C>T (p.Pro520Ser) c.1897C>T (p.Pro633Ser) c.217C>T (p.Pro73Ser) | |
| X | g.108598805C>A | CA10488806 | COL4A5 | c.1883C>A (p.Pro628Gln) n.1339C>A c.1559C>A (p.Pro520Gln) c.1898C>A (p.Pro633Gln) c.218C>A (p.Pro73Gln) | dbSNP ExAC gnomAD v2 |
| X | g.108598805C= | CA2450688848 | COL4A5 | c.1883C= (p.Pro628=) n.1339C= c.1559C= (p.Pro520=) c.1898C= (p.Pro633=) c.218C= (p.Pro73=) | |
| X | g.108598805C>G | CA413845804 | COL4A5 | c.1883C>G (p.Pro628Arg) n.1339C>G c.1559C>G (p.Pro520Arg) c.1898C>G (p.Pro633Arg) c.218C>G (p.Pro73Arg) | |
| X | g.108598805C>T | CA261066 | COL4A5 | c.1883C>T (p.Pro628Leu) n.1339C>T c.1559C>T (p.Pro520Leu) c.1898C>T (p.Pro633Leu) c.218C>T (p.Pro73Leu) | dbSNP COSMIC COSMIC |
| X | g.108598806A>C | CA517922448 | COL4A5 | c.1884A>C (p.Pro628=) n.1340A>C c.1560A>C (p.Pro520=) c.1899A>C (p.Pro633=) c.219A>C (p.Pro73=) | |
| X | g.108598806A>G | CA517922449 | COL4A5 | c.1884A>G (p.Pro628=) n.1340A>G c.1560A>G (p.Pro520=) c.1899A>G (p.Pro633=) c.219A>G (p.Pro73=) |