| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108591180dup | CA334182245 | COL4A5 | c.1288dup (p.Ala430GlyfsTer18) n.744dup c.964dup (p.Ala322GlyfsTer18) c.1303dup (p.Ala435GlyfsTer18) c.-422dup (n.-422dup) | dbSNP |
| X | g.108591180del | CA2450686431 | COL4A5 | c.1288del (p.Ala430LeufsTer?) n.744del c.964del (p.Ala322LeufsTer?) c.1303del (p.Ala435LeufsTer?) c.-422del (n.-422del) | dbSNP |
| X | g.108591180_108591197dup | CA2694411164 | COL4A5 | c.1288_1305dup (p.Gly435_Pro436insAlaProGlyLeuProGly) n.744_761dup c.964_981dup (p.Gly327_Pro328insAlaProGlyLeuProGly) c.1303_1320dup (p.Gly440_Pro441insAlaProGlyLeuProGly) c.-422_-405dup (n.-422_-405dup) | gnomAD v4 |
| X | g.108591178G>A | CA258453 | COL4A5 | c.1286G>A (p.Gly429Glu) n.742G>A c.962G>A (p.Gly321Glu) c.1301G>A (p.Gly434Glu) c.-424G>A (n.-424G>A) | ClinVar dbSNP |
| X | g.108591178G>C | CA413932950 | COL4A5 | c.1286G>C (p.Gly429Ala) n.742G>C c.962G>C (p.Gly321Ala) c.1301G>C (p.Gly434Ala) c.-424G>C (n.-424G>C) | |
| X | g.108591178G= | CA2450686432 | COL4A5 | c.1286G= (p.Gly429=) n.742G= c.962G= (p.Gly321=) c.1301G= (p.Gly434=) c.-424G= (n.-424G=) | |
| X | g.108591178G>T | CA413932953 | COL4A5 | c.1286G>T (p.Gly429Val) n.742G>T c.962G>T (p.Gly321Val) c.1301G>T (p.Gly434Val) c.-424G>T (n.-424G>T) | |
| X | g.108591179G>A | CA517992224 | COL4A5 | c.1287G>A (p.Gly429=) n.743G>A c.963G>A (p.Gly321=) c.1302G>A (p.Gly434=) c.-423G>A (n.-423G>A) | |
| X | g.108591179G>C | CA517992225 | COL4A5 | c.1287G>C (p.Gly429=) n.743G>C c.963G>C (p.Gly321=) c.1302G>C (p.Gly434=) c.-423G>C (n.-423G>C) | |
| X | g.108591179G= | CA2450686433 | COL4A5 | c.1287G= (p.Gly429=) n.743G= c.963G= (p.Gly321=) c.1302G= (p.Gly434=) c.-423G= (n.-423G=) | |
| X | g.108591179G>T | CA10488703 | COL4A5 | c.1287G>T (p.Gly429=) n.743G>T c.963G>T (p.Gly321=) c.1302G>T (p.Gly434=) c.-423G>T (n.-423G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108591180G>A | CA413932969 | COL4A5 | c.1288G>A (p.Ala430Thr) n.744G>A c.964G>A (p.Ala322Thr) c.1303G>A (p.Ala435Thr) c.-422G>A (n.-422G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108591180G>C | CA413932972 | COL4A5 | c.1288G>C (p.Ala430Pro) n.744G>C c.964G>C (p.Ala322Pro) c.1303G>C (p.Ala435Pro) c.-422G>C (n.-422G>C) | dbSNP |
| X | g.108591180G= | CA2450686434 | COL4A5 | c.1288G= (p.Ala430=) n.744G= c.964G= (p.Ala322=) c.1303G= (p.Ala435=) c.-422G= (n.-422G=) | |
| X | g.108591180G>T | CA413932976 | COL4A5 | c.1288G>T (p.Ala430Ser) n.744G>T c.964G>T (p.Ala322Ser) c.1303G>T (p.Ala435Ser) c.-422G>T (n.-422G>T) | dbSNP gnomAD v4 |
| X | g.108591181C>A | CA10488704 | COL4A5 | c.1289C>A (p.Ala430Asp) n.745C>A c.965C>A (p.Ala322Asp) c.1304C>A (p.Ala435Asp) c.-421C>A (n.-421C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108591181C= | CA2450686435 | COL4A5 | c.1289C= (p.Ala430=) n.745C= c.965C= (p.Ala322=) c.1304C= (p.Ala435=) c.-421C= (n.-421C=) | |
| X | g.108591181C>G | CA413932986 | COL4A5 | c.1289C>G (p.Ala430Gly) n.745C>G c.965C>G (p.Ala322Gly) c.1304C>G (p.Ala435Gly) c.-421C>G (n.-421C>G) | |
| X | g.108591181C>T | CA10488705 | COL4A5 | c.1289C>T (p.Ala430Val) n.745C>T c.965C>T (p.Ala322Val) c.1304C>T (p.Ala435Val) c.-421C>T (n.-421C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108591182T>A | CA517992227 | COL4A5 | c.1290T>A (p.Ala430=) n.746T>A c.966T>A (p.Ala322=) c.1305T>A (p.Ala435=) c.-420T>A (n.-420T>A) | |
| X | g.108591182T>C | CA517992228 | COL4A5 | c.1290T>C (p.Ala430=) n.746T>C c.966T>C (p.Ala322=) c.1305T>C (p.Ala435=) c.-420T>C (n.-420T>C) | |
| X | g.108591182T>G | CA517992226 | COL4A5 | c.1290T>G (p.Ala430=) n.746T>G c.966T>G (p.Ala322=) c.1305T>G (p.Ala435=) c.-420T>G (n.-420T>G) | |
| X | g.108591183C>A | CA413932990 | COL4A5 | c.1291C>A (p.Pro431Thr) n.747C>A c.967C>A (p.Pro323Thr) c.1306C>A (p.Pro436Thr) c.-419C>A (n.-419C>A) | |
| X | g.108591183C>G | CA413932992 | COL4A5 | c.1291C>G (p.Pro431Ala) n.747C>G c.967C>G (p.Pro323Ala) c.1306C>G (p.Pro436Ala) c.-419C>G (n.-419C>G) | |
| X | g.108591183C>T | CA413932993 | COL4A5 | c.1291C>T (p.Pro431Ser) n.747C>T c.967C>T (p.Pro323Ser) c.1306C>T (p.Pro436Ser) c.-419C>T (n.-419C>T) | |
| X | g.108591184C>A | CA413932999 | COL4A5 | c.1292C>A (p.Pro431His) n.748C>A c.968C>A (p.Pro323His) c.1307C>A (p.Pro436His) c.-418C>A (n.-418C>A) | |
| X | g.108591184C>G | CA413933003 | COL4A5 | c.1292C>G (p.Pro431Arg) n.748C>G c.968C>G (p.Pro323Arg) c.1307C>G (p.Pro436Arg) c.-418C>G (n.-418C>G) | |
| X | g.108591184C>T | CA413932996 | COL4A5 | c.1292C>T (p.Pro431Leu) n.748C>T c.968C>T (p.Pro323Leu) c.1307C>T (p.Pro436Leu) c.-418C>T (n.-418C>T) | COSMIC COSMIC |
| X | g.108591185del | CA2697544711 | COL4A5 | c.1293del (p.Leu433PhefsTer?) n.749del c.969del (p.Leu325PhefsTer?) c.1308del (p.Leu438PhefsTer?) c.-417del (n.-417del) | ClinVar |
| X | g.108591185T>A | CA517992229 | COL4A5 | c.1293T>A (p.Pro431=) n.749T>A c.969T>A (p.Pro323=) c.1308T>A (p.Pro436=) c.-417T>A (n.-417T>A) | |
| X | g.108591185T>C | CA334182250 | COL4A5 | c.1293T>C (p.Pro431=) n.749T>C c.969T>C (p.Pro323=) c.1308T>C (p.Pro436=) c.-417T>C (n.-417T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.108591185T>G | CA517992230 | COL4A5 | c.1293T>G (p.Pro431=) n.749T>G c.969T>G (p.Pro323=) c.1308T>G (p.Pro436=) c.-417T>G (n.-417T>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108591185T= | CA2450686436 | COL4A5 | c.1293T= (p.Pro431=) n.749T= c.969T= (p.Pro323=) c.1308T= (p.Pro436=) c.-417T= (n.-417T=) | |
| X | g.108591186G>A | CA258456 | COL4A5 | c.1294G>A (p.Gly432Arg) n.750G>A c.970G>A (p.Gly324Arg) c.1309G>A (p.Gly437Arg) c.-416G>A (n.-416G>A) | ClinVar dbSNP |
| X | g.108591186G>C | CA413933023 | COL4A5 | c.1294G>C (p.Gly432Arg) n.750G>C c.970G>C (p.Gly324Arg) c.1309G>C (p.Gly437Arg) c.-416G>C (n.-416G>C) | ClinVar |
| X | g.108591186G= | CA2450686437 | COL4A5 | c.1294G= (p.Gly432=) n.750G= c.970G= (p.Gly324=) c.1309G= (p.Gly437=) c.-416G= (n.-416G=) | |
| X | g.108591186G>T | CA413933028 | COL4A5 | c.1294G>T (p.Gly432Trp) n.750G>T c.970G>T (p.Gly324Trp) c.1309G>T (p.Gly437Trp) c.-416G>T (n.-416G>T) | |
| X | g.108591187G>A | CA413933040 | COL4A5 | c.1295G>A (p.Gly432Glu) n.751G>A c.971G>A (p.Gly324Glu) c.1310G>A (p.Gly437Glu) c.-415G>A (n.-415G>A) | ClinVar dbSNP |
| X | g.108591187G>C | CA413933035 | COL4A5 | c.1295G>C (p.Gly432Ala) n.751G>C c.971G>C (p.Gly324Ala) c.1310G>C (p.Gly437Ala) c.-415G>C (n.-415G>C) | |
| X | g.108591187G= | CA2450686438 | COL4A5 | c.1295G= (p.Gly432=) n.751G= c.971G= (p.Gly324=) c.1310G= (p.Gly437=) c.-415G= (n.-415G=) | |
| X | g.108591187G>T | CA413933032 | COL4A5 | c.1295G>T (p.Gly432Val) n.751G>T c.971G>T (p.Gly324Val) c.1310G>T (p.Gly437Val) c.-415G>T (n.-415G>T) | |
| X | g.108591188G>A | CA517992231 | COL4A5 | c.1296G>A (p.Gly432=) n.752G>A c.972G>A (p.Gly324=) c.1311G>A (p.Gly437=) c.-414G>A (n.-414G>A) | |
| X | g.108591188G>C | CA10488706 | COL4A5 | c.1296G>C (p.Gly432=) n.752G>C c.972G>C (p.Gly324=) c.1311G>C (p.Gly437=) c.-414G>C (n.-414G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108591188G= | CA2450686439 | COL4A5 | c.1296G= (p.Gly432=) n.752G= c.972G= (p.Gly324=) c.1311G= (p.Gly437=) c.-414G= (n.-414G=) | |
| X | g.108591188G>T | CA517992232 | COL4A5 | c.1296G>T (p.Gly432=) n.752G>T c.972G>T (p.Gly324=) c.1311G>T (p.Gly437=) c.-414G>T (n.-414G>T) | |
| X | g.108591189C>A | CA413933056 | COL4A5 | c.1297C>A (p.Leu433Ile) n.753C>A c.973C>A (p.Leu325Ile) c.1312C>A (p.Leu438Ile) c.-413C>A (n.-413C>A) | |
| X | g.108591189C>G | CA413933059 | COL4A5 | c.1297C>G (p.Leu433Val) n.753C>G c.973C>G (p.Leu325Val) c.1312C>G (p.Leu438Val) c.-413C>G (n.-413C>G) | |
| X | g.108591189C>T | CA413933063 | COL4A5 | c.1297C>T (p.Leu433Phe) n.753C>T c.973C>T (p.Leu325Phe) c.1312C>T (p.Leu438Phe) c.-413C>T (n.-413C>T) | |
| X | g.108591190T>A | CA413933066 | COL4A5 | c.1298T>A (p.Leu433His) n.754T>A c.974T>A (p.Leu325His) c.1313T>A (p.Leu438His) c.-412T>A (n.-412T>A) | |
| X | g.108591190T>C | CA413933070 | COL4A5 | c.1298T>C (p.Leu433Pro) n.754T>C c.974T>C (p.Leu325Pro) c.1313T>C (p.Leu438Pro) c.-412T>C (n.-412T>C) |