| 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.108598736dup | CA2499729925 | COL4A5 | c.1814dup (p.Gly606TrpfsTer28) n.1270dup c.1490dup (p.Gly498TrpfsTer28) c.1829dup (p.Gly611TrpfsTer28) c.149dup (p.Gly51TrpfsTer28) | |
| X | g.108598735_108598736dup | CA2695235629 | COL4A5 | c.1813_1814dup (p.Gly606LeufsTer13) n.1269_1270dup c.1489_1490dup (p.Gly498LeufsTer13) c.1828_1829dup (p.Gly611LeufsTer13) c.148_149dup (p.Gly51LeufsTer13) | |
| X | g.108598736del | CA2695235627 | COL4A5 | c.1814del (p.Pro605LeufsTer13) n.1270del c.1490del (p.Pro497LeufsTer13) c.1829del (p.Pro610LeufsTer13) c.149del (p.Pro50LeufsTer13) | |
| X | g.108598735_108598736del | CA2695235628 | COL4A5 | c.1813_1814del (p.Pro605TrpfsTer28) n.1269_1270del c.1489_1490del (p.Pro497TrpfsTer28) c.1828_1829del (p.Pro610TrpfsTer28) c.148_149del (p.Pro50TrpfsTer28) | |
| X | g.108598734C>A | CA517922308 | COL4A5 | c.1812C>A (p.Pro604=) n.1268C>A c.1488C>A (p.Pro496=) c.1827C>A (p.Pro609=) c.147C>A (p.Pro49=) | |
| X | g.108598734C>G | CA517922306 | COL4A5 | c.1812C>G (p.Pro604=) n.1268C>G c.1488C>G (p.Pro496=) c.1827C>G (p.Pro609=) c.147C>G (p.Pro49=) | |
| X | g.108598734C>T | CA517922307 | COL4A5 | c.1812C>T (p.Pro604=) n.1268C>T c.1488C>T (p.Pro496=) c.1827C>T (p.Pro609=) c.147C>T (p.Pro49=) | |
| X | g.108598735C>A | CA10488799 | COL4A5 | c.1813C>A (p.Pro605Thr) n.1269C>A c.1489C>A (p.Pro497Thr) c.1828C>A (p.Pro610Thr) c.148C>A (p.Pro50Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108598735C= | CA2450688814 | COL4A5 | c.1813C= (p.Pro605=) n.1269C= c.1489C= (p.Pro497=) c.1828C= (p.Pro610=) c.148C= (p.Pro50=) | |
| X | g.108598735C>G | CA413845669 | COL4A5 | c.1813C>G (p.Pro605Ala) n.1269C>G c.1489C>G (p.Pro497Ala) c.1828C>G (p.Pro610Ala) c.148C>G (p.Pro50Ala) | |
| X | g.108598735C>T | CA413845668 | COL4A5 | c.1813C>T (p.Pro605Ser) n.1269C>T c.1489C>T (p.Pro497Ser) c.1828C>T (p.Pro610Ser) c.148C>T (p.Pro50Ser) | |
| X | g.108598736C>A | CA413845670 | COL4A5 | c.1814C>A (p.Pro605His) n.1270C>A c.1490C>A (p.Pro497His) c.1829C>A (p.Pro610His) c.149C>A (p.Pro50His) | |
| X | g.108598736C>G | CA413845672 | COL4A5 | c.1814C>G (p.Pro605Arg) n.1270C>G c.1490C>G (p.Pro497Arg) c.1829C>G (p.Pro610Arg) c.149C>G (p.Pro50Arg) | |
| X | g.108598736C>T | CA413845671 | COL4A5 | c.1814C>T (p.Pro605Leu) n.1270C>T c.1490C>T (p.Pro497Leu) c.1829C>T (p.Pro610Leu) c.149C>T (p.Pro50Leu) | |
| X | g.108598736_108598737delinsCT | CA2450688815 | COL4A5 | c.1814_1815delinsCT (p.Pro605=) n.1270_1271delinsCT c.1490_1491delinsCT (p.Pro497=) c.1829_1830delinsCT (p.Pro610=) c.149_150delinsCT (p.Pro50=) | |
| X | g.108598737del | CA916083990 | COL4A5 | c.1815del (p.Asn607ThrfsTer11) n.1271del c.1491del (p.Asn499ThrfsTer11) c.1830del (p.Asn612ThrfsTer11) c.150del (p.Asn52ThrfsTer11) | ClinVar dbSNP |
| X | g.108598737T>A | CA517922350 | COL4A5 | c.1815T>A (p.Pro605=) n.1271T>A c.1491T>A (p.Pro497=) c.1830T>A (p.Pro610=) c.150T>A (p.Pro50=) | |
| X | g.108598737T>C | CA517922351 | COL4A5 | c.1815T>C (p.Pro605=) n.1271T>C c.1491T>C (p.Pro497=) c.1830T>C (p.Pro610=) c.150T>C (p.Pro50=) | ClinVar |
| X | g.108598737T>G | CA517922352 | COL4A5 | c.1815T>G (p.Pro605=) n.1271T>G c.1491T>G (p.Pro497=) c.1830T>G (p.Pro610=) c.150T>G (p.Pro50=) | |
| X | g.108598738G>A | CA413845673 | COL4A5 | c.1816G>A (p.Gly606Arg) n.1272G>A c.1492G>A (p.Gly498Arg) c.1831G>A (p.Gly611Arg) c.151G>A (p.Gly51Arg) | |
| X | g.108598738G>C | CA413845675 | COL4A5 | c.1816G>C (p.Gly606Arg) n.1272G>C c.1492G>C (p.Gly498Arg) c.1831G>C (p.Gly611Arg) c.151G>C (p.Gly51Arg) | |
| X | g.108598738G>T | CA413845674 | COL4A5 | c.1816G>T (p.Gly606Trp) n.1272G>T c.1492G>T (p.Gly498Trp) c.1831G>T (p.Gly611Trp) c.151G>T (p.Gly51Trp) | COSMIC |
| X | g.108598739G>A | CA413845676 | COL4A5 | c.1817G>A (p.Gly606Glu) n.1273G>A c.1493G>A (p.Gly498Glu) c.1832G>A (p.Gly611Glu) c.152G>A (p.Gly51Glu) | ClinVar dbSNP |
| X | g.108598739G>C | CA413845678 | COL4A5 | c.1817G>C (p.Gly606Ala) n.1273G>C c.1493G>C (p.Gly498Ala) c.1832G>C (p.Gly611Ala) c.152G>C (p.Gly51Ala) | |
| X | g.108598739G>T | CA413845677 | COL4A5 | c.1817G>T (p.Gly606Val) n.1273G>T c.1493G>T (p.Gly498Val) c.1832G>T (p.Gly611Val) c.152G>T (p.Gly51Val) | ClinVar |
| X | g.108598740G>A | CA517922357 | COL4A5 | c.1818G>A (p.Gly606=) n.1274G>A c.1494G>A (p.Gly498=) c.1833G>A (p.Gly611=) c.153G>A (p.Gly51=) | ClinVar dbSNP COSMIC COSMIC |
| X | g.108598740G>C | CA517922355 | COL4A5 | c.1818G>C (p.Gly606=) n.1274G>C c.1494G>C (p.Gly498=) c.1833G>C (p.Gly611=) c.153G>C (p.Gly51=) | |
| X | g.108598740G= | CA2450688816 | COL4A5 | c.1818G= (p.Gly606=) n.1274G= c.1494G= (p.Gly498=) c.1833G= (p.Gly611=) c.153G= (p.Gly51=) | |
| X | g.108598740G>T | CA517922356 | COL4A5 | c.1818G>T (p.Gly606=) n.1274G>T c.1494G>T (p.Gly498=) c.1833G>T (p.Gly611=) c.153G>T (p.Gly51=) | ClinVar gnomAD v4 |
| X | g.108598741A>C | CA413845679 | COL4A5 | c.1819A>C (p.Asn607His) n.1275A>C c.1495A>C (p.Asn499His) c.1834A>C (p.Asn612His) c.154A>C (p.Asn52His) | |
| X | g.108598741A>G | CA413845680 | COL4A5 | c.1819A>G (p.Asn607Asp) n.1275A>G c.1495A>G (p.Asn499Asp) c.1834A>G (p.Asn612Asp) c.154A>G (p.Asn52Asp) | gnomAD v3 gnomAD v4 |
| X | g.108598741A>T | CA413845681 | COL4A5 | c.1819A>T (p.Asn607Tyr) n.1275A>T c.1495A>T (p.Asn499Tyr) c.1834A>T (p.Asn612Tyr) c.154A>T (p.Asn52Tyr) | |
| X | g.108598742A>C | CA413845682 | COL4A5 | c.1820A>C (p.Asn607Thr) n.1276A>C c.1496A>C (p.Asn499Thr) c.1835A>C (p.Asn612Thr) c.155A>C (p.Asn52Thr) | |
| X | g.108598742A>G | CA413845683 | COL4A5 | c.1820A>G (p.Asn607Ser) n.1276A>G c.1496A>G (p.Asn499Ser) c.1835A>G (p.Asn612Ser) c.155A>G (p.Asn52Ser) | gnomAD v4 |
| X | g.108598742A>T | CA413845684 | COL4A5 | c.1820A>T (p.Asn607Ile) n.1276A>T c.1496A>T (p.Asn499Ile) c.1835A>T (p.Asn612Ile) c.155A>T (p.Asn52Ile) | |
| X | g.108598743C>A | CA413845685 | COL4A5 | c.1821C>A (p.Asn607Lys) n.1277C>A c.1497C>A (p.Asn499Lys) c.1836C>A (p.Asn612Lys) c.156C>A (p.Asn52Lys) | |
| X | g.108598743C>G | CA413845686 | COL4A5 | c.1821C>G (p.Asn607Lys) n.1277C>G c.1497C>G (p.Asn499Lys) c.1836C>G (p.Asn612Lys) c.156C>G (p.Asn52Lys) | |
| X | g.108598743C>T | CA517922361 | COL4A5 | c.1821C>T (p.Asn607=) n.1277C>T c.1497C>T (p.Asn499=) c.1836C>T (p.Asn612=) c.156C>T (p.Asn52=) | |
| X | g.108598743_108598751del | CA2522882905 | COL4A5 | c.1821_1829del (p.Asn607_Leu610delinsLys) n.1277_1285del c.1497_1505del (p.Asn499_Leu502delinsLys) c.1836_1844del (p.Asn612_Leu615delinsLys) c.156_164del (p.Asn52_Leu55delinsLys) | |
| X | g.108598744C>A | CA413845687 | COL4A5 | c.1822C>A (p.Pro608Thr) n.1278C>A c.1498C>A (p.Pro500Thr) c.1837C>A (p.Pro613Thr) c.157C>A (p.Pro53Thr) | |
| X | g.108598744C>G | CA413845688 | COL4A5 | c.1822C>G (p.Pro608Ala) n.1278C>G c.1498C>G (p.Pro500Ala) c.1837C>G (p.Pro613Ala) c.157C>G (p.Pro53Ala) | |
| X | g.108598744C>T | CA413845689 | COL4A5 | c.1822C>T (p.Pro608Ser) n.1278C>T c.1498C>T (p.Pro500Ser) c.1837C>T (p.Pro613Ser) c.157C>T (p.Pro53Ser) | |
| X | g.108598745C>A | CA10488800 | COL4A5 | c.1823C>A (p.Pro608Gln) n.1279C>A c.1499C>A (p.Pro500Gln) c.1838C>A (p.Pro613Gln) c.158C>A (p.Pro53Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108598745C= | CA2450688817 | COL4A5 | c.1823C= (p.Pro608=) n.1279C= c.1499C= (p.Pro500=) c.1838C= (p.Pro613=) c.158C= (p.Pro53=) | |
| X | g.108598745C>G | CA413845690 | COL4A5 | c.1823C>G (p.Pro608Arg) n.1279C>G c.1499C>G (p.Pro500Arg) c.1838C>G (p.Pro613Arg) c.158C>G (p.Pro53Arg) | |
| X | g.108598745C>T | CA413845691 | COL4A5 | c.1823C>T (p.Pro608Leu) n.1279C>T c.1499C>T (p.Pro500Leu) c.1838C>T (p.Pro613Leu) c.158C>T (p.Pro53Leu) | |
| X | g.108598746A>C | CA517922364 | COL4A5 | c.1824A>C (p.Pro608=) n.1280A>C c.1500A>C (p.Pro500=) c.1839A>C (p.Pro613=) c.159A>C (p.Pro53=) | ClinVar gnomAD v4 |
| X | g.108598746A>G | CA517922365 | COL4A5 | c.1824A>G (p.Pro608=) n.1280A>G c.1500A>G (p.Pro500=) c.1839A>G (p.Pro613=) c.159A>G (p.Pro53=) |