UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108591168G>A | CA258449 | COL4A5 | c.1276G>A (p.Gly426Arg) n.732G>A c.952G>A (p.Gly318Arg) c.1291G>A (p.Gly431Arg) c.-434G>A (n.-434G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108591168G>C | CA413932850 | COL4A5 | c.1276G>C (p.Gly426Arg) n.732G>C c.952G>C (p.Gly318Arg) c.1291G>C (p.Gly431Arg) c.-434G>C (n.-434G>C) | |
| X | g.108591168G= | CA2450686425 | COL4A5 | c.1276G= (p.Gly426=) n.732G= c.952G= (p.Gly318=) c.1291G= (p.Gly431=) c.-434G= (n.-434G=) | |
| X | g.108591168G>T | CA413932856 | COL4A5 | c.1276G>T (p.Gly426Ter) n.732G>T c.952G>T (p.Gly318Ter) c.1291G>T (p.Gly431Ter) c.-434G>T (n.-434G>T) | ClinVar dbSNP |
| X | g.108591169dup | CA2695235602 | COL4A5 | c.1277dup (p.Gln427ThrfsTer21) n.733dup c.953dup (p.Gln319ThrfsTer21) c.1292dup (p.Gln432ThrfsTer21) c.-433dup (n.-433dup) | |
| X | g.108591169G>A | CA413932860 | COL4A5 | c.1277G>A (p.Gly426Glu) n.733G>A c.953G>A (p.Gly318Glu) c.1292G>A (p.Gly431Glu) c.-433G>A (n.-433G>A) | |
| X | g.108591169G>C | CA413932862 | COL4A5 | c.1277G>C (p.Gly426Ala) n.733G>C c.953G>C (p.Gly318Ala) c.1292G>C (p.Gly431Ala) c.-433G>C (n.-433G>C) | |
| X | g.108591169G>T | CA413932875 | COL4A5 | c.1277G>T (p.Gly426Val) n.733G>T c.953G>T (p.Gly318Val) c.1292G>T (p.Gly431Val) c.-433G>T (n.-433G>T) | |
| X | g.108591170A>C | CA517992218 | COL4A5 | c.1278A>C (p.Gly426=) n.734A>C c.954A>C (p.Gly318=) c.1293A>C (p.Gly431=) c.-432A>C (n.-432A>C) | |
| X | g.108591170A>G | CA517992219 | COL4A5 | c.1278A>G (p.Gly426=) n.734A>G c.954A>G (p.Gly318=) c.1293A>G (p.Gly431=) c.-432A>G (n.-432A>G) | |
| X | g.108591170A>T | CA517992220 | COL4A5 | c.1278A>T (p.Gly426=) n.734A>T c.954A>T (p.Gly318=) c.1293A>T (p.Gly431=) c.-432A>T (n.-432A>T) | ClinVar |
| X | g.108591171C>A | CA413932878 | COL4A5 | c.1279C>A (p.Gln427Lys) n.735C>A c.955C>A (p.Gln319Lys) c.1294C>A (p.Gln432Lys) c.-431C>A (n.-431C>A) | |
| X | g.108591171C= | CA2450686426 | COL4A5 | c.1279C= (p.Gln427=) n.735C= c.955C= (p.Gln319=) c.1294C= (p.Gln432=) c.-431C= (n.-431C=) | |
| X | g.108591171C>G | CA413932876 | COL4A5 | c.1279C>G (p.Gln427Glu) n.735C>G c.955C>G (p.Gln319Glu) c.1294C>G (p.Gln432Glu) c.-431C>G (n.-431C>G) | |
| X | g.108591171C>T | CA413932877 | COL4A5 | c.1279C>T (p.Gln427Ter) n.735C>T c.955C>T (p.Gln319Ter) c.1294C>T (p.Gln432Ter) c.-431C>T (n.-431C>T) | |
| X | g.108591172A= | CA2580701028 | COL4A5 | c.1280A= (p.Gln427=) n.736A= c.956A= (p.Gln319=) c.1295A= (p.Gln432=) c.-430A= (n.-430A=) | |
| X | g.108591172A>C | CA413932879 | COL4A5 | c.1280A>C (p.Gln427Pro) n.736A>C c.956A>C (p.Gln319Pro) c.1295A>C (p.Gln432Pro) c.-430A>C (n.-430A>C) | |
| X | g.108591172A>G | CA413932881 | COL4A5 | c.1280A>G (p.Gln427Arg) n.736A>G c.956A>G (p.Gln319Arg) c.1295A>G (p.Gln432Arg) c.-430A>G (n.-430A>G) | |
| X | g.108591172A>T | CA413932883 | COL4A5 | c.1280A>T (p.Gln427Leu) n.736A>T c.956A>T (p.Gln319Leu) c.1295A>T (p.Gln432Leu) c.-430A>T (n.-430A>T) | |
| X | g.108591172dup | CA258452 | COL4A5 | c.1280dup (p.Pro428AlafsTer20) n.736dup c.956dup (p.Pro320AlafsTer20) c.1295dup (p.Pro433AlafsTer20) c.-430dup (n.-430dup) | dbSNP |
| 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 |