| 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.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=) | 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 |
| X | g.108598722T>A | CA517922297 | COL4A5 | c.1800T>A (p.Gly600=) n.1256T>A c.1476T>A (p.Gly492=) c.1815T>A (p.Gly605=) c.135T>A (p.Gly45=) | |
| X | g.108598722T>C | CA517922298 | COL4A5 | c.1800T>C (p.Gly600=) n.1256T>C c.1476T>C (p.Gly492=) c.1815T>C (p.Gly605=) c.135T>C (p.Gly45=) | gnomAD v4 |
| X | g.108598722T>G | CA517922299 | COL4A5 | c.1800T>G (p.Gly600=) n.1256T>G c.1476T>G (p.Gly492=) c.1815T>G (p.Gly605=) c.135T>G (p.Gly45=) | |
| X | g.108598723G>A | CA413845643 | COL4A5 | c.1801G>A (p.Glu601Lys) n.1257G>A c.1477G>A (p.Glu493Lys) c.1816G>A (p.Glu606Lys) c.136G>A (p.Glu46Lys) | gnomAD v4 |
| X | g.108598723G>C | CA413845644 | COL4A5 | c.1801G>C (p.Glu601Gln) n.1257G>C c.1477G>C (p.Glu493Gln) c.1816G>C (p.Glu606Gln) c.136G>C (p.Glu46Gln) | |
| X | g.108598723G>T | CA413845645 | COL4A5 | c.1801G>T (p.Glu601Ter) n.1257G>T c.1477G>T (p.Glu493Ter) c.1816G>T (p.Glu606Ter) c.136G>T (p.Glu46Ter) | |
| X | g.108598724A>C | CA413845646 | COL4A5 | c.1802A>C (p.Glu601Ala) n.1258A>C c.1478A>C (p.Glu493Ala) c.1817A>C (p.Glu606Ala) c.137A>C (p.Glu46Ala) | |
| X | g.108598724A>G | CA413845647 | COL4A5 | c.1802A>G (p.Glu601Gly) n.1258A>G c.1478A>G (p.Glu493Gly) c.1817A>G (p.Glu606Gly) c.137A>G (p.Glu46Gly) | |
| X | g.108598724A>T | CA413845648 | COL4A5 | c.1802A>T (p.Glu601Val) n.1258A>T c.1478A>T (p.Glu493Val) c.1817A>T (p.Glu606Val) c.137A>T (p.Glu46Val) | |
| X | g.108598725A>C | CA413845649 | COL4A5 | c.1803A>C (p.Glu601Asp) n.1259A>C c.1479A>C (p.Glu493Asp) c.1818A>C (p.Glu606Asp) c.138A>C (p.Glu46Asp) | |
| X | g.108598725A>G | CA517922300 | COL4A5 | c.1803A>G (p.Glu601=) n.1259A>G c.1479A>G (p.Glu493=) c.1818A>G (p.Glu606=) c.138A>G (p.Glu46=) | |
| X | g.108598725A>T | CA413845650 | COL4A5 | c.1803A>T (p.Glu601Asp) n.1259A>T c.1479A>T (p.Glu493Asp) c.1818A>T (p.Glu606Asp) c.138A>T (p.Glu46Asp) | |
| X | g.108598726A>C | CA517922301 | COL4A5 | c.1804A>C (p.Arg602=) n.1260A>C c.1480A>C (p.Arg494=) c.1819A>C (p.Arg607=) c.139A>C (p.Arg47=) | |
| X | g.108598726A>G | CA413845651 | COL4A5 | c.1804A>G (p.Arg602Gly) n.1260A>G c.1480A>G (p.Arg494Gly) c.1819A>G (p.Arg607Gly) c.139A>G (p.Arg47Gly) | |
| X | g.108598726A>T | CA413845652 | COL4A5 | c.1804A>T (p.Arg602Ter) n.1260A>T c.1480A>T (p.Arg494Ter) c.1819A>T (p.Arg607Ter) c.139A>T (p.Arg47Ter) | |
| X | g.108598727G>A | CA413845653 | COL4A5 | c.1805G>A (p.Arg602Lys) n.1261G>A c.1481G>A (p.Arg494Lys) c.1820G>A (p.Arg607Lys) c.140G>A (p.Arg47Lys) | COSMIC COSMIC |
| X | g.108598727G>C | CA413845654 | COL4A5 | c.1805G>C (p.Arg602Thr) n.1261G>C c.1481G>C (p.Arg494Thr) c.1820G>C (p.Arg607Thr) c.140G>C (p.Arg47Thr) | |
| X | g.108598727G>T | CA413845655 | COL4A5 | c.1805G>T (p.Arg602Ile) n.1261G>T c.1481G>T (p.Arg494Ile) c.1820G>T (p.Arg607Ile) c.140G>T (p.Arg47Ile) | COSMIC |
| X | g.108598728A>C | CA413845657 | COL4A5 | c.1806A>C (p.Arg602Ser) n.1262A>C c.1482A>C (p.Arg494Ser) c.1821A>C (p.Arg607Ser) c.141A>C (p.Arg47Ser) | |
| X | g.108598728A>G | CA517922302 | COL4A5 | c.1806A>G (p.Arg602=) n.1262A>G c.1482A>G (p.Arg494=) c.1821A>G (p.Arg607=) c.141A>G (p.Arg47=) | |
| X | g.108598728A>T | CA413845656 | COL4A5 | c.1806A>T (p.Arg602Ser) n.1262A>T c.1482A>T (p.Arg494Ser) c.1821A>T (p.Arg607Ser) c.141A>T (p.Arg47Ser) | COSMIC COSMIC |
| X | g.108598729G>A | CA413845658 | COL4A5 | c.1807G>A (p.Gly603Ser) n.1263G>A c.1483G>A (p.Gly495Ser) c.1822G>A (p.Gly608Ser) c.142G>A (p.Gly48Ser) | ClinVar dbSNP |
| X | g.108598729G>C | CA413845659 | COL4A5 | c.1807G>C (p.Gly603Arg) n.1263G>C c.1483G>C (p.Gly495Arg) c.1822G>C (p.Gly608Arg) c.142G>C (p.Gly48Arg) | gnomAD v4 |
| X | g.108598729G= | CA2450688810 | COL4A5 | c.1807G= (p.Gly603=) n.1263G= c.1483G= (p.Gly495=) c.1822G= (p.Gly608=) c.142G= (p.Gly48=) | |
| X | g.108598729G>T | CA413845660 | COL4A5 | c.1807G>T (p.Gly603Cys) n.1263G>T c.1483G>T (p.Gly495Cys) c.1822G>T (p.Gly608Cys) c.142G>T (p.Gly48Cys) | ClinVar |
| 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.108598730G>A | CA413845661 | COL4A5 | c.1808G>A (p.Gly603Asp) n.1264G>A c.1484G>A (p.Gly495Asp) c.1823G>A (p.Gly608Asp) c.143G>A (p.Gly48Asp) | ClinVar dbSNP |
| X | g.108598730G>C | CA413845662 | COL4A5 | c.1808G>C (p.Gly603Ala) n.1264G>C c.1484G>C (p.Gly495Ala) c.1823G>C (p.Gly608Ala) c.143G>C (p.Gly48Ala) | |
| X | g.108598730G= | CA2450688811 | COL4A5 | c.1808G= (p.Gly603=) n.1264G= c.1484G= (p.Gly495=) c.1823G= (p.Gly608=) c.143G= (p.Gly48=) | |
| X | g.108598730G>T | CA258549 | COL4A5 | c.1808G>T (p.Gly603Val) n.1264G>T c.1484G>T (p.Gly495Val) c.1823G>T (p.Gly608Val) c.143G>T (p.Gly48Val) | ClinVar dbSNP |