WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108692749_108692750delinsGA | CA2450720830 | COL4A5 | c.4530_4531delinsGA (p.Gly1510=) c.4512_4513delinsGA (p.Gly1504=) n.1024_1025delinsGA c.325-3548_325-3547delinsGA c.4521_4522delinsGA (p.Gly1507=) c.4206_4207delinsGA (p.Gly1402=) c.2103_2104delinsGA (p.Gly701=) c.4545_4546delinsGA (p.Gly1515=) c.4536_4537delinsGA (p.Gly1512=) c.4527_4528delinsGA (p.Gly1509=) c.2865_2866delinsGA (p.Gly955=) | |
| X | g.108692750del | CA259062 | COL4A5 | c.4531del (p.Thr1511ArgfsTer?) c.4513del (p.Thr1505ArgfsTer?) n.1025del c.325-3547del c.4522del (p.Thr1508ArgfsTer?) c.4207del (p.Thr1403ArgfsTer?) c.2104del (p.Thr702ArgfsTer?) c.4546del (p.Thr1516ArgfsTer?) c.4537del (p.Thr1513ArgfsTer?) c.4528del (p.Thr1510ArgfsTer?) c.2866del (p.Thr956ArgfsTer?) | dbSNP |
| X | g.108692750A= | CA2450720833 | COL4A5 | c.4531A= (p.Thr1511=) c.4513A= (p.Thr1505=) n.1025A= c.325-3547A= c.4522A= (p.Thr1508=) c.4207A= (p.Thr1403=) c.2104A= (p.Thr702=) c.4546A= (p.Thr1516=) c.4537A= (p.Thr1513=) c.4528A= (p.Thr1510=) c.2866A= (p.Thr956=) | |
| X | g.108692750A>C | CA413855208 | COL4A5 | c.4531A>C (p.Thr1511Pro) c.4513A>C (p.Thr1505Pro) n.1025A>C c.325-3547A>C c.4522A>C (p.Thr1508Pro) c.4207A>C (p.Thr1403Pro) c.2104A>C (p.Thr702Pro) c.4546A>C (p.Thr1516Pro) c.4537A>C (p.Thr1513Pro) c.4528A>C (p.Thr1510Pro) c.2866A>C (p.Thr956Pro) | |
| X | g.108692750A>G | CA413855204 | COL4A5 | c.4531A>G (p.Thr1511Ala) c.4513A>G (p.Thr1505Ala) n.1025A>G c.325-3547A>G c.4522A>G (p.Thr1508Ala) c.4207A>G (p.Thr1403Ala) c.2104A>G (p.Thr702Ala) c.4546A>G (p.Thr1516Ala) c.4537A>G (p.Thr1513Ala) c.4528A>G (p.Thr1510Ala) c.2866A>G (p.Thr956Ala) | dbSNP gnomAD v4 |
| X | g.108692750A>T | CA413855207 | COL4A5 | c.4531A>T (p.Thr1511Ser) c.4513A>T (p.Thr1505Ser) n.1025A>T c.325-3547A>T c.4522A>T (p.Thr1508Ser) c.4207A>T (p.Thr1403Ser) c.2104A>T (p.Thr702Ser) c.4546A>T (p.Thr1516Ser) c.4537A>T (p.Thr1513Ser) c.4528A>T (p.Thr1510Ser) c.2866A>T (p.Thr956Ser) | |
| X | g.108692750_108692764delinsACGGCTGGCAGCTGC | CA2450720832 | COL4A5 | c.4531_4545delinsACGGCTGGCAGCTGC (p.Thr1511=) c.4513_4527delinsACGGCTGGCAGCTGC (p.Thr1505=) n.1025_1039delinsACGGCTGGCAGCTGC c.325-3547_325-3533delinsACGGCTGGCAGCTGC c.4522_4536delinsACGGCTGGCAGCTGC (p.Thr1508=) c.4207_4221delinsACGGCTGGCAGCTGC (p.Thr1403=) c.2104_2118delinsACGGCTGGCAGCTGC (p.Thr702=) c.4546_4560delinsACGGCTGGCAGCTGC (p.Thr1516=) c.4537_4551delinsACGGCTGGCAGCTGC (p.Thr1513=) c.4528_4542delinsACGGCTGGCAGCTGC (p.Thr1510=) c.2866_2880delinsACGGCTGGCAGCTGC (p.Thr956=) | |
| X | g.108692751C>A | CA413855210 | COL4A5 | c.4532C>A (p.Thr1511Lys) c.4514C>A (p.Thr1505Lys) n.1026C>A c.325-3546C>A c.4523C>A (p.Thr1508Lys) c.4208C>A (p.Thr1403Lys) c.2105C>A (p.Thr702Lys) c.4547C>A (p.Thr1516Lys) c.4538C>A (p.Thr1513Lys) c.4529C>A (p.Thr1510Lys) c.2867C>A (p.Thr956Lys) | dbSNP gnomAD v4 |
| X | g.108692751C= | CA2450720834 | COL4A5 | c.4532C= (p.Thr1511=) c.4514C= (p.Thr1505=) n.1026C= c.325-3546C= c.4523C= (p.Thr1508=) c.4208C= (p.Thr1403=) c.2105C= (p.Thr702=) c.4547C= (p.Thr1516=) c.4538C= (p.Thr1513=) c.4529C= (p.Thr1510=) c.2867C= (p.Thr956=) | |
| X | g.108692751C>G | CA413855211 | COL4A5 | c.4532C>G (p.Thr1511Arg) c.4514C>G (p.Thr1505Arg) n.1026C>G c.325-3546C>G c.4523C>G (p.Thr1508Arg) c.4208C>G (p.Thr1403Arg) c.2105C>G (p.Thr702Arg) c.4547C>G (p.Thr1516Arg) c.4538C>G (p.Thr1513Arg) c.4529C>G (p.Thr1510Arg) c.2867C>G (p.Thr956Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108692751C>T | CA334061547 | COL4A5 | c.4532C>T (p.Thr1511Met) c.4514C>T (p.Thr1505Met) n.1026C>T c.325-3546C>T c.4523C>T (p.Thr1508Met) c.4208C>T (p.Thr1403Met) c.2105C>T (p.Thr702Met) c.4547C>T (p.Thr1516Met) c.4538C>T (p.Thr1513Met) c.4529C>T (p.Thr1510Met) c.2867C>T (p.Thr956Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108692751_108692764delinsTTTCAT | CA891843691 | COL4A5 | c.4532_4545delinsTTTCAT (p.Thr1511IlefsTer7) c.4514_4527delinsTTTCAT (p.Thr1505IlefsTer7) n.1026_1039delinsTTTCAT c.325-3546_325-3533delinsTTTCAT c.4523_4536delinsTTTCAT (p.Thr1508IlefsTer7) c.4208_4221delinsTTTCAT (p.Thr1403IlefsTer7) c.2105_2118delinsTTTCAT (p.Thr702IlefsTer7) c.4547_4560delinsTTTCAT (p.Thr1516IlefsTer7) c.4538_4551delinsTTTCAT (p.Thr1513IlefsTer7) c.4529_4542delinsTTTCAT (p.Thr1510IlefsTer7) c.2867_2880delinsTTTCAT (p.Thr956IlefsTer7) | |
| X | g.108692752G>A | CA10489381 | COL4A5 | c.4533G>A (p.Thr1511=) c.4515G>A (p.Thr1505=) n.1027G>A c.325-3545G>A c.4524G>A (p.Thr1508=) c.4209G>A (p.Thr1403=) c.2106G>A (p.Thr702=) c.4548G>A (p.Thr1516=) c.4539G>A (p.Thr1513=) c.4530G>A (p.Thr1510=) c.2868G>A (p.Thr956=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108692752G>C | CA517925025 | COL4A5 | c.4533G>C (p.Thr1511=) c.4515G>C (p.Thr1505=) n.1027G>C c.325-3545G>C c.4524G>C (p.Thr1508=) c.4209G>C (p.Thr1403=) c.2106G>C (p.Thr702=) c.4548G>C (p.Thr1516=) c.4539G>C (p.Thr1513=) c.4530G>C (p.Thr1510=) c.2868G>C (p.Thr956=) | |
| X | g.108692752G= | CA2450720835 | COL4A5 | c.4533G= (p.Thr1511=) c.4515G= (p.Thr1505=) n.1027G= c.325-3545G= c.4524G= (p.Thr1508=) c.4209G= (p.Thr1403=) c.2106G= (p.Thr702=) c.4548G= (p.Thr1516=) c.4539G= (p.Thr1513=) c.4530G= (p.Thr1510=) c.2868G= (p.Thr956=) | |
| X | g.108692752G>T | CA517925026 | COL4A5 | c.4533G>T (p.Thr1511=) c.4515G>T (p.Thr1505=) n.1027G>T c.325-3545G>T c.4524G>T (p.Thr1508=) c.4209G>T (p.Thr1403=) c.2106G>T (p.Thr702=) c.4548G>T (p.Thr1516=) c.4539G>T (p.Thr1513=) c.4530G>T (p.Thr1510=) c.2868G>T (p.Thr956=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.108692753G>A | CA413855216 | COL4A5 | c.4534G>A (p.Ala1512Thr) c.4516G>A (p.Ala1506Thr) n.1028G>A c.325-3544G>A c.4525G>A (p.Ala1509Thr) c.4210G>A (p.Ala1404Thr) c.2107G>A (p.Ala703Thr) c.4549G>A (p.Ala1517Thr) c.4540G>A (p.Ala1514Thr) c.4531G>A (p.Ala1511Thr) c.2869G>A (p.Ala957Thr) | COSMIC COSMIC |
| X | g.108692753G>C | CA413855220 | COL4A5 | c.4534G>C (p.Ala1512Pro) c.4516G>C (p.Ala1506Pro) n.1028G>C c.325-3544G>C c.4525G>C (p.Ala1509Pro) c.4210G>C (p.Ala1404Pro) c.2107G>C (p.Ala703Pro) c.4549G>C (p.Ala1517Pro) c.4540G>C (p.Ala1514Pro) c.4531G>C (p.Ala1511Pro) c.2869G>C (p.Ala957Pro) | |
| X | g.108692753G>T | CA413855218 | COL4A5 | c.4534G>T (p.Ala1512Ser) c.4516G>T (p.Ala1506Ser) n.1028G>T c.325-3544G>T c.4525G>T (p.Ala1509Ser) c.4210G>T (p.Ala1404Ser) c.2107G>T (p.Ala703Ser) c.4549G>T (p.Ala1517Ser) c.4540G>T (p.Ala1514Ser) c.4531G>T (p.Ala1511Ser) c.2869G>T (p.Ala957Ser) | |
| X | g.108692754C>A | CA413855222 | COL4A5 | c.4535C>A (p.Ala1512Asp) c.4517C>A (p.Ala1506Asp) n.1029C>A c.325-3543C>A c.4526C>A (p.Ala1509Asp) c.4211C>A (p.Ala1404Asp) c.2108C>A (p.Ala703Asp) c.4550C>A (p.Ala1517Asp) c.4541C>A (p.Ala1514Asp) c.4532C>A (p.Ala1511Asp) c.2870C>A (p.Ala957Asp) | |
| X | g.108692754C>G | CA413855224 | COL4A5 | c.4535C>G (p.Ala1512Gly) c.4517C>G (p.Ala1506Gly) n.1029C>G c.325-3543C>G c.4526C>G (p.Ala1509Gly) c.4211C>G (p.Ala1404Gly) c.2108C>G (p.Ala703Gly) c.4550C>G (p.Ala1517Gly) c.4541C>G (p.Ala1514Gly) c.4532C>G (p.Ala1511Gly) c.2870C>G (p.Ala957Gly) | |
| X | g.108692754C>T | CA413855226 | COL4A5 | c.4535C>T (p.Ala1512Val) c.4517C>T (p.Ala1506Val) n.1029C>T c.325-3543C>T c.4526C>T (p.Ala1509Val) c.4211C>T (p.Ala1404Val) c.2108C>T (p.Ala703Val) c.4550C>T (p.Ala1517Val) c.4541C>T (p.Ala1514Val) c.4532C>T (p.Ala1511Val) c.2870C>T (p.Ala957Val) | |
| X | g.108692755T>A | CA517925031 | COL4A5 | c.4536T>A (p.Ala1512=) c.4518T>A (p.Ala1506=) n.1030T>A c.325-3542T>A c.4527T>A (p.Ala1509=) c.4212T>A (p.Ala1404=) c.2109T>A (p.Ala703=) c.4551T>A (p.Ala1517=) c.4542T>A (p.Ala1514=) c.4533T>A (p.Ala1511=) c.2871T>A (p.Ala957=) | |
| X | g.108692755T>C | CA517925029 | COL4A5 | c.4536T>C (p.Ala1512=) c.4518T>C (p.Ala1506=) n.1030T>C c.325-3542T>C c.4527T>C (p.Ala1509=) c.4212T>C (p.Ala1404=) c.2109T>C (p.Ala703=) c.4551T>C (p.Ala1517=) c.4542T>C (p.Ala1514=) c.4533T>C (p.Ala1511=) c.2871T>C (p.Ala957=) | |
| X | g.108692755T>G | CA517925030 | COL4A5 | c.4536T>G (p.Ala1512=) c.4518T>G (p.Ala1506=) n.1030T>G c.325-3542T>G c.4527T>G (p.Ala1509=) c.4212T>G (p.Ala1404=) c.2109T>G (p.Ala703=) c.4551T>G (p.Ala1517=) c.4542T>G (p.Ala1514=) c.4533T>G (p.Ala1511=) c.2871T>G (p.Ala957=) | |
| X | g.108692756G>A | CA413855229 | COL4A5 | c.4537G>A (p.Gly1513Ser) c.4519G>A (p.Gly1507Ser) n.1031G>A c.325-3541G>A c.4528G>A (p.Gly1510Ser) c.4213G>A (p.Gly1405Ser) c.2110G>A (p.Gly704Ser) c.4552G>A (p.Gly1518Ser) c.4543G>A (p.Gly1515Ser) c.4534G>A (p.Gly1512Ser) c.2872G>A (p.Gly958Ser) | |
| X | g.108692756G>C | CA413855230 | COL4A5 | c.4537G>C (p.Gly1513Arg) c.4519G>C (p.Gly1507Arg) n.1031G>C c.325-3541G>C c.4528G>C (p.Gly1510Arg) c.4213G>C (p.Gly1405Arg) c.2110G>C (p.Gly704Arg) c.4552G>C (p.Gly1518Arg) c.4543G>C (p.Gly1515Arg) c.4534G>C (p.Gly1512Arg) c.2872G>C (p.Gly958Arg) | |
| X | g.108692756G>T | CA413855232 | COL4A5 | c.4537G>T (p.Gly1513Cys) c.4519G>T (p.Gly1507Cys) n.1031G>T c.325-3541G>T c.4528G>T (p.Gly1510Cys) c.4213G>T (p.Gly1405Cys) c.2110G>T (p.Gly704Cys) c.4552G>T (p.Gly1518Cys) c.4543G>T (p.Gly1515Cys) c.4534G>T (p.Gly1512Cys) c.2872G>T (p.Gly958Cys) | |
| X | g.108692757G>A | CA413855235 | COL4A5 | c.4538G>A (p.Gly1513Asp) c.4520G>A (p.Gly1507Asp) n.1032G>A c.325-3540G>A c.4529G>A (p.Gly1510Asp) c.4214G>A (p.Gly1405Asp) c.2111G>A (p.Gly704Asp) c.4553G>A (p.Gly1518Asp) c.4544G>A (p.Gly1515Asp) c.4535G>A (p.Gly1512Asp) c.2873G>A (p.Gly958Asp) | |
| X | g.108692757G>C | CA413855236 | COL4A5 | c.4538G>C (p.Gly1513Ala) c.4520G>C (p.Gly1507Ala) n.1032G>C c.325-3540G>C c.4529G>C (p.Gly1510Ala) c.4214G>C (p.Gly1405Ala) c.2111G>C (p.Gly704Ala) c.4553G>C (p.Gly1518Ala) c.4544G>C (p.Gly1515Ala) c.4535G>C (p.Gly1512Ala) c.2873G>C (p.Gly958Ala) | |
| X | g.108692757G>T | CA413855238 | COL4A5 | c.4538G>T (p.Gly1513Val) c.4520G>T (p.Gly1507Val) n.1032G>T c.325-3540G>T c.4529G>T (p.Gly1510Val) c.4214G>T (p.Gly1405Val) c.2111G>T (p.Gly704Val) c.4553G>T (p.Gly1518Val) c.4544G>T (p.Gly1515Val) c.4535G>T (p.Gly1512Val) c.2873G>T (p.Gly958Val) | |
| X | g.108692758C>A | CA334061552 | COL4A5 | c.4539C>A (p.Gly1513=) c.4521C>A (p.Gly1507=) n.1033C>A c.325-3539C>A c.4530C>A (p.Gly1510=) c.4215C>A (p.Gly1405=) c.2112C>A (p.Gly704=) c.4554C>A (p.Gly1518=) c.4545C>A (p.Gly1515=) c.4536C>A (p.Gly1512=) c.2874C>A (p.Gly958=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108692758C= | CA2450720836 | COL4A5 | c.4539C= (p.Gly1513=) c.4521C= (p.Gly1507=) n.1033C= c.325-3539C= c.4530C= (p.Gly1510=) c.4215C= (p.Gly1405=) c.2112C= (p.Gly704=) c.4554C= (p.Gly1518=) c.4545C= (p.Gly1515=) c.4536C= (p.Gly1512=) c.2874C= (p.Gly958=) | |
| X | g.108692758C>G | CA517925041 | COL4A5 | c.4539C>G (p.Gly1513=) c.4521C>G (p.Gly1507=) n.1033C>G c.325-3539C>G c.4530C>G (p.Gly1510=) c.4215C>G (p.Gly1405=) c.2112C>G (p.Gly704=) c.4554C>G (p.Gly1518=) c.4545C>G (p.Gly1515=) c.4536C>G (p.Gly1512=) c.2874C>G (p.Gly958=) | |
| X | g.108692758C>T | CA517925042 | COL4A5 | c.4539C>T (p.Gly1513=) c.4521C>T (p.Gly1507=) n.1033C>T c.325-3539C>T c.4530C>T (p.Gly1510=) c.4215C>T (p.Gly1405=) c.2112C>T (p.Gly704=) c.4554C>T (p.Gly1518=) c.4545C>T (p.Gly1515=) c.4536C>T (p.Gly1512=) c.2874C>T (p.Gly958=) | |
| X | g.108692759A>C | CA413855240 | COL4A5 | c.4540A>C (p.Ser1514Arg) c.4522A>C (p.Ser1508Arg) n.1034A>C c.325-3538A>C c.4531A>C (p.Ser1511Arg) c.4216A>C (p.Ser1406Arg) c.2113A>C (p.Ser705Arg) c.4555A>C (p.Ser1519Arg) c.4546A>C (p.Ser1516Arg) c.4537A>C (p.Ser1513Arg) c.2875A>C (p.Ser959Arg) | |
| X | g.108692759A>G | CA413855241 | COL4A5 | c.4540A>G (p.Ser1514Gly) c.4522A>G (p.Ser1508Gly) n.1034A>G c.325-3538A>G c.4531A>G (p.Ser1511Gly) c.4216A>G (p.Ser1406Gly) c.2113A>G (p.Ser705Gly) c.4555A>G (p.Ser1519Gly) c.4546A>G (p.Ser1516Gly) c.4537A>G (p.Ser1513Gly) c.2875A>G (p.Ser959Gly) | |
| X | g.108692759A>T | CA413855243 | COL4A5 | c.4540A>T (p.Ser1514Cys) c.4522A>T (p.Ser1508Cys) n.1034A>T c.325-3538A>T c.4531A>T (p.Ser1511Cys) c.4216A>T (p.Ser1406Cys) c.2113A>T (p.Ser705Cys) c.4555A>T (p.Ser1519Cys) c.4546A>T (p.Ser1516Cys) c.4537A>T (p.Ser1513Cys) c.2875A>T (p.Ser959Cys) | |
| X | g.108692760G>A | CA413855245 | COL4A5 | c.4541G>A (p.Ser1514Asn) c.4523G>A (p.Ser1508Asn) n.1035G>A c.325-3537G>A c.4532G>A (p.Ser1511Asn) c.4217G>A (p.Ser1406Asn) c.2114G>A (p.Ser705Asn) c.4556G>A (p.Ser1519Asn) c.4547G>A (p.Ser1516Asn) c.4538G>A (p.Ser1513Asn) c.2876G>A (p.Ser959Asn) | COSMIC COSMIC |
| X | g.108692760G>C | CA413855249 | COL4A5 | c.4541G>C (p.Ser1514Thr) c.4523G>C (p.Ser1508Thr) n.1035G>C c.325-3537G>C c.4532G>C (p.Ser1511Thr) c.4217G>C (p.Ser1406Thr) c.2114G>C (p.Ser705Thr) c.4556G>C (p.Ser1519Thr) c.4547G>C (p.Ser1516Thr) c.4538G>C (p.Ser1513Thr) c.2876G>C (p.Ser959Thr) | |
| X | g.108692760G>T | CA413855247 | COL4A5 | c.4541G>T (p.Ser1514Ile) c.4523G>T (p.Ser1508Ile) n.1035G>T c.325-3537G>T c.4532G>T (p.Ser1511Ile) c.4217G>T (p.Ser1406Ile) c.2114G>T (p.Ser705Ile) c.4556G>T (p.Ser1519Ile) c.4547G>T (p.Ser1516Ile) c.4538G>T (p.Ser1513Ile) c.2876G>T (p.Ser959Ile) | COSMIC COSMIC |
| X | g.108692761C>A | CA413855251 | COL4A5 | c.4542C>A (p.Ser1514Arg) c.4524C>A (p.Ser1508Arg) n.1036C>A c.325-3536C>A c.4533C>A (p.Ser1511Arg) c.4218C>A (p.Ser1406Arg) c.2115C>A (p.Ser705Arg) c.4557C>A (p.Ser1519Arg) c.4548C>A (p.Ser1516Arg) c.4539C>A (p.Ser1513Arg) c.2877C>A (p.Ser959Arg) | |
| X | g.108692761C>G | CA413855253 | COL4A5 | c.4542C>G (p.Ser1514Arg) c.4524C>G (p.Ser1508Arg) n.1036C>G c.325-3536C>G c.4533C>G (p.Ser1511Arg) c.4218C>G (p.Ser1406Arg) c.2115C>G (p.Ser705Arg) c.4557C>G (p.Ser1519Arg) c.4548C>G (p.Ser1516Arg) c.4539C>G (p.Ser1513Arg) c.2877C>G (p.Ser959Arg) | |
| X | g.108692761C>T | CA517925059 | COL4A5 | c.4542C>T (p.Ser1514=) c.4524C>T (p.Ser1508=) n.1036C>T c.325-3536C>T c.4533C>T (p.Ser1511=) c.4218C>T (p.Ser1406=) c.2115C>T (p.Ser705=) c.4557C>T (p.Ser1519=) c.4548C>T (p.Ser1516=) c.4539C>T (p.Ser1513=) c.2877C>T (p.Ser959=) | |
| X | g.108692762T>A | CA413855255 | COL4A5 | c.4543T>A (p.Cys1515Ser) c.4525T>A (p.Cys1509Ser) n.1037T>A c.325-3535T>A c.4534T>A (p.Cys1512Ser) c.4219T>A (p.Cys1407Ser) c.2116T>A (p.Cys706Ser) c.4558T>A (p.Cys1520Ser) c.4549T>A (p.Cys1517Ser) c.4540T>A (p.Cys1514Ser) c.2878T>A (p.Cys960Ser) | |
| X | g.108692762T>C | CA413855259 | COL4A5 | c.4543T>C (p.Cys1515Arg) c.4525T>C (p.Cys1509Arg) n.1037T>C c.325-3535T>C c.4534T>C (p.Cys1512Arg) c.4219T>C (p.Cys1407Arg) c.2116T>C (p.Cys706Arg) c.4558T>C (p.Cys1520Arg) c.4549T>C (p.Cys1517Arg) c.4540T>C (p.Cys1514Arg) c.2878T>C (p.Cys960Arg) | |
| X | g.108692762T>G | CA413855257 | COL4A5 | c.4543T>G (p.Cys1515Gly) c.4525T>G (p.Cys1509Gly) n.1037T>G c.325-3535T>G c.4534T>G (p.Cys1512Gly) c.4219T>G (p.Cys1407Gly) c.2116T>G (p.Cys706Gly) c.4558T>G (p.Cys1520Gly) c.4549T>G (p.Cys1517Gly) c.4540T>G (p.Cys1514Gly) c.2878T>G (p.Cys960Gly) | |
| X | g.108692762T= | CA2450720837 | COL4A5 | c.4543T= (p.Cys1515=) c.4525T= (p.Cys1509=) n.1037T= c.325-3535T= c.4534T= (p.Cys1512=) c.4219T= (p.Cys1407=) c.2116T= (p.Cys706=) c.4558T= (p.Cys1520=) c.4549T= (p.Cys1517=) c.4540T= (p.Cys1514=) c.2878T= (p.Cys960=) | |
| X | g.108692762_108692763insTTAG | CA915951313 | COL4A5 | c.4543_4544insTTAG (p.Cys1515PhefsTer7) c.4525_4526insTTAG (p.Cys1509PhefsTer7) n.1037_1038insTTAG c.325-3535_325-3534insTTAG c.4534_4535insTTAG (p.Cys1512PhefsTer7) c.4219_4220insTTAG (p.Cys1407PhefsTer7) c.2116_2117insTTAG (p.Cys706PhefsTer7) c.4558_4559insTTAG (p.Cys1520PhefsTer7) c.4549_4550insTTAG (p.Cys1517PhefsTer7) c.4540_4541insTTAG (p.Cys1514PhefsTer7) c.2878_2879insTTAG (p.Cys960PhefsTer7) | ClinVar dbSNP |
| X | g.108692763G>A | CA413855261 | COL4A5 | c.4544G>A (p.Cys1515Tyr) c.4526G>A (p.Cys1509Tyr) n.1038G>A c.325-3534G>A c.4535G>A (p.Cys1512Tyr) c.4220G>A (p.Cys1407Tyr) c.2117G>A (p.Cys706Tyr) c.4559G>A (p.Cys1520Tyr) c.4550G>A (p.Cys1517Tyr) c.4541G>A (p.Cys1514Tyr) c.2879G>A (p.Cys960Tyr) | ClinVar dbSNP |