| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108591173G>A | CA517992221 | COL4A5 | c.1281G>A (p.Gln427=) n.737G>A c.957G>A (p.Gln319=) c.1296G>A (p.Gln432=) c.-429G>A (n.-429G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108591173G>C | CA413932886 | COL4A5 | c.1281G>C (p.Gln427His) n.737G>C c.957G>C (p.Gln319His) c.1296G>C (p.Gln432His) c.-429G>C (n.-429G>C) | |
| X | g.108591173G= | CA2450686427 | COL4A5 | c.1281G= (p.Gln427=) n.737G= c.957G= (p.Gln319=) c.1296G= (p.Gln432=) c.-429G= (n.-429G=) | |
| X | g.108591173G>T | CA413932890 | COL4A5 | c.1281G>T (p.Gln427His) n.737G>T c.957G>T (p.Gln319His) c.1296G>T (p.Gln432His) c.-429G>T (n.-429G>T) | |
| X | g.108591174C>A | CA413932892 | COL4A5 | c.1282C>A (p.Pro428Thr) n.738C>A c.958C>A (p.Pro320Thr) c.1297C>A (p.Pro433Thr) c.-428C>A (n.-428C>A) | |
| X | g.108591174C>G | CA413932897 | COL4A5 | c.1282C>G (p.Pro428Ala) n.738C>G c.958C>G (p.Pro320Ala) c.1297C>G (p.Pro433Ala) c.-428C>G (n.-428C>G) | |
| X | g.108591174C>T | CA413932900 | COL4A5 | c.1282C>T (p.Pro428Ser) n.738C>T c.958C>T (p.Pro320Ser) c.1297C>T (p.Pro433Ser) c.-428C>T (n.-428C>T) | |
| X | g.108591175C>A | CA413932904 | COL4A5 | c.1283C>A (p.Pro428His) n.739C>A c.959C>A (p.Pro320His) c.1298C>A (p.Pro433His) c.-427C>A (n.-427C>A) | |
| X | g.108591175C= | CA2450686428 | COL4A5 | c.1283C= (p.Pro428=) n.739C= c.959C= (p.Pro320=) c.1298C= (p.Pro433=) c.-427C= (n.-427C=) | |
| X | g.108591175C>G | CA10488701 | COL4A5 | c.1283C>G (p.Pro428Arg) n.739C>G c.959C>G (p.Pro320Arg) c.1298C>G (p.Pro433Arg) c.-427C>G (n.-427C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108591175C>T | CA413932932 | COL4A5 | c.1283C>T (p.Pro428Leu) n.739C>T c.959C>T (p.Pro320Leu) c.1298C>T (p.Pro433Leu) c.-427C>T (n.-427C>T) | |
| X | g.108591176T>A | CA517992222 | COL4A5 | c.1284T>A (p.Pro428=) n.740T>A c.960T>A (p.Pro320=) c.1299T>A (p.Pro433=) c.-426T>A (n.-426T>A) | |
| X | g.108591176T>C | CA10488702 | COL4A5 | c.1284T>C (p.Pro428=) n.740T>C c.960T>C (p.Pro320=) c.1299T>C (p.Pro433=) c.-426T>C (n.-426T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108591176T>G | CA517992223 | COL4A5 | c.1284T>G (p.Pro428=) n.740T>G c.960T>G (p.Pro320=) c.1299T>G (p.Pro433=) c.-426T>G (n.-426T>G) | |
| X | g.108591176T= | CA2450686429 | COL4A5 | c.1284T= (p.Pro428=) n.740T= c.960T= (p.Pro320=) c.1299T= (p.Pro433=) c.-426T= (n.-426T=) | |
| X | g.108591176_108591177delinsTG | CA2450686430 | COL4A5 | c.1284_1285delinsTG (p.Pro428=) n.740_741delinsTG c.960_961delinsTG (p.Pro320=) c.1299_1300delinsTG (p.Pro433=) c.-426_-425delinsTG (n.-426_-425delinsTG) | |
| X | g.108591177G>A | CA413932946 | COL4A5 | c.1285G>A (p.Gly429Arg) n.741G>A c.961G>A (p.Gly321Arg) c.1300G>A (p.Gly434Arg) c.-425G>A (n.-425G>A) | |
| X | g.108591177G>C | CA413932944 | COL4A5 | c.1285G>C (p.Gly429Arg) n.741G>C c.961G>C (p.Gly321Arg) c.1300G>C (p.Gly434Arg) c.-425G>C (n.-425G>C) | |
| X | g.108591177G>T | CA413932940 | COL4A5 | c.1285G>T (p.Gly429Trp) n.741G>T c.961G>T (p.Gly321Trp) c.1300G>T (p.Gly434Trp) c.-425G>T (n.-425G>T) | |
| 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 |