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.108692769G>A | CA259063 | COL4A5 | c.4550G>A (p.Arg1517His) c.4532G>A (p.Arg1511His) n.1044G>A c.325-3528G>A c.4541G>A (p.Arg1514His) c.4226G>A (p.Arg1409His) c.2123G>A (p.Arg708His) c.4565G>A (p.Arg1522His) c.4556G>A (p.Arg1519His) c.4547G>A (p.Arg1516His) c.2885G>A (p.Arg962His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108692769G>C | CA413855289 | COL4A5 | c.4550G>C (p.Arg1517Pro) c.4532G>C (p.Arg1511Pro) n.1044G>C c.325-3528G>C c.4541G>C (p.Arg1514Pro) c.4226G>C (p.Arg1409Pro) c.2123G>C (p.Arg708Pro) c.4565G>C (p.Arg1522Pro) c.4556G>C (p.Arg1519Pro) c.4547G>C (p.Arg1516Pro) c.2885G>C (p.Arg962Pro) | |
| X | g.108692769G= | CA2450720841 | COL4A5 | c.4550G= (p.Arg1517=) c.4532G= (p.Arg1511=) n.1044G= c.325-3528G= c.4541G= (p.Arg1514=) c.4226G= (p.Arg1409=) c.2123G= (p.Arg708=) c.4565G= (p.Arg1522=) c.4556G= (p.Arg1519=) c.4547G= (p.Arg1516=) c.2885G= (p.Arg962=) | |
| X | g.108692769G>T | CA413855291 | COL4A5 | c.4550G>T (p.Arg1517Leu) c.4532G>T (p.Arg1511Leu) n.1044G>T c.325-3528G>T c.4541G>T (p.Arg1514Leu) c.4226G>T (p.Arg1409Leu) c.2123G>T (p.Arg708Leu) c.4565G>T (p.Arg1522Leu) c.4556G>T (p.Arg1519Leu) c.4547G>T (p.Arg1516Leu) c.2885G>T (p.Arg962Leu) | |
| X | g.108692770T>A | CA517925082 | COL4A5 | c.4551T>A (p.Arg1517=) c.4533T>A (p.Arg1511=) n.1045T>A c.325-3527T>A c.4542T>A (p.Arg1514=) c.4227T>A (p.Arg1409=) c.2124T>A (p.Arg708=) c.4566T>A (p.Arg1522=) c.4557T>A (p.Arg1519=) c.4548T>A (p.Arg1516=) c.2886T>A (p.Arg962=) | |
| X | g.108692770T>C | CA517925078 | COL4A5 | c.4551T>C (p.Arg1517=) c.4533T>C (p.Arg1511=) n.1045T>C c.325-3527T>C c.4542T>C (p.Arg1514=) c.4227T>C (p.Arg1409=) c.2124T>C (p.Arg708=) c.4566T>C (p.Arg1522=) c.4557T>C (p.Arg1519=) c.4548T>C (p.Arg1516=) c.2886T>C (p.Arg962=) | |
| X | g.108692770T>G | CA517925080 | COL4A5 | c.4551T>G (p.Arg1517=) c.4533T>G (p.Arg1511=) n.1045T>G c.325-3527T>G c.4542T>G (p.Arg1514=) c.4227T>G (p.Arg1409=) c.2124T>G (p.Arg708=) c.4566T>G (p.Arg1522=) c.4557T>G (p.Arg1519=) c.4548T>G (p.Arg1516=) c.2886T>G (p.Arg962=) | |
| X | g.108692771C>A | CA413855293 | COL4A5 | c.4552C>A (p.Arg1518Ser) c.4534C>A (p.Arg1512Ser) n.1046C>A c.325-3526C>A c.4543C>A (p.Arg1515Ser) c.4228C>A (p.Arg1410Ser) c.2125C>A (p.Arg709Ser) c.4567C>A (p.Arg1523Ser) c.4558C>A (p.Arg1520Ser) c.4549C>A (p.Arg1517Ser) c.2887C>A (p.Arg963Ser) | |
| X | g.108692771C= | CA2450720842 | COL4A5 | c.4552C= (p.Arg1518=) c.4534C= (p.Arg1512=) n.1046C= c.325-3526C= c.4543C= (p.Arg1515=) c.4228C= (p.Arg1410=) c.2125C= (p.Arg709=) c.4567C= (p.Arg1523=) c.4558C= (p.Arg1520=) c.4549C= (p.Arg1517=) c.2887C= (p.Arg963=) | |
| X | g.108692771C>G | CA413855295 | COL4A5 | c.4552C>G (p.Arg1518Gly) c.4534C>G (p.Arg1512Gly) n.1046C>G c.325-3526C>G c.4543C>G (p.Arg1515Gly) c.4228C>G (p.Arg1410Gly) c.2125C>G (p.Arg709Gly) c.4567C>G (p.Arg1523Gly) c.4558C>G (p.Arg1520Gly) c.4549C>G (p.Arg1517Gly) c.2887C>G (p.Arg963Gly) | dbSNP |
| X | g.108692771C>T | CA334061562 | COL4A5 | c.4552C>T (p.Arg1518Cys) c.4534C>T (p.Arg1512Cys) n.1046C>T c.325-3526C>T c.4543C>T (p.Arg1515Cys) c.4228C>T (p.Arg1410Cys) c.2125C>T (p.Arg709Cys) c.4567C>T (p.Arg1523Cys) c.4558C>T (p.Arg1520Cys) c.4549C>T (p.Arg1517Cys) c.2887C>T (p.Arg963Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108692772G>A | CA413855298 | COL4A5 | c.4553G>A (p.Arg1518His) c.4535G>A (p.Arg1512His) n.1047G>A c.325-3525G>A c.4544G>A (p.Arg1515His) c.4229G>A (p.Arg1410His) c.2126G>A (p.Arg709His) c.4568G>A (p.Arg1523His) c.4559G>A (p.Arg1520His) c.4550G>A (p.Arg1517His) c.2888G>A (p.Arg963His) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.108692772G>C | CA413855300 | COL4A5 | c.4553G>C (p.Arg1518Pro) c.4535G>C (p.Arg1512Pro) n.1047G>C c.325-3525G>C c.4544G>C (p.Arg1515Pro) c.4229G>C (p.Arg1410Pro) c.2126G>C (p.Arg709Pro) c.4568G>C (p.Arg1523Pro) c.4559G>C (p.Arg1520Pro) c.4550G>C (p.Arg1517Pro) c.2888G>C (p.Arg963Pro) | |
| X | g.108692772G= | CA2450720843 | COL4A5 | c.4553G= (p.Arg1518=) c.4535G= (p.Arg1512=) n.1047G= c.325-3525G= c.4544G= (p.Arg1515=) c.4229G= (p.Arg1410=) c.2126G= (p.Arg709=) c.4568G= (p.Arg1523=) c.4559G= (p.Arg1520=) c.4550G= (p.Arg1517=) c.2888G= (p.Arg963=) | |
| X | g.108692772G>T | CA413855302 | COL4A5 | c.4553G>T (p.Arg1518Leu) c.4535G>T (p.Arg1512Leu) n.1047G>T c.325-3525G>T c.4544G>T (p.Arg1515Leu) c.4229G>T (p.Arg1410Leu) c.2126G>T (p.Arg709Leu) c.4568G>T (p.Arg1523Leu) c.4559G>T (p.Arg1520Leu) c.4550G>T (p.Arg1517Leu) c.2888G>T (p.Arg963Leu) | |
| X | g.108692773C>A | CA517925087 | COL4A5 | c.4554C>A (p.Arg1518=) c.4536C>A (p.Arg1512=) n.1048C>A c.325-3524C>A c.4545C>A (p.Arg1515=) c.4230C>A (p.Arg1410=) c.2127C>A (p.Arg709=) c.4569C>A (p.Arg1523=) c.4560C>A (p.Arg1520=) c.4551C>A (p.Arg1517=) c.2889C>A (p.Arg963=) | |
| X | g.108692773C>G | CA517925088 | COL4A5 | c.4554C>G (p.Arg1518=) c.4536C>G (p.Arg1512=) n.1048C>G c.325-3524C>G c.4545C>G (p.Arg1515=) c.4230C>G (p.Arg1410=) c.2127C>G (p.Arg709=) c.4569C>G (p.Arg1523=) c.4560C>G (p.Arg1520=) c.4551C>G (p.Arg1517=) c.2889C>G (p.Arg963=) | |
| X | g.108692773C>T | CA517925090 | COL4A5 | c.4554C>T (p.Arg1518=) c.4536C>T (p.Arg1512=) n.1048C>T c.325-3524C>T c.4545C>T (p.Arg1515=) c.4230C>T (p.Arg1410=) c.2127C>T (p.Arg709=) c.4569C>T (p.Arg1523=) c.4560C>T (p.Arg1520=) c.4551C>T (p.Arg1517=) c.2889C>T (p.Arg963=) | |
| X | g.108692774T>A | CA413855305 | COL4A5 | c.4555T>A (p.Phe1519Ile) c.4537T>A (p.Phe1513Ile) n.1049T>A c.325-3523T>A c.4546T>A (p.Phe1516Ile) c.4231T>A (p.Phe1411Ile) c.2128T>A (p.Phe710Ile) c.4570T>A (p.Phe1524Ile) c.4561T>A (p.Phe1521Ile) c.4552T>A (p.Phe1518Ile) c.2890T>A (p.Phe964Ile) | |
| X | g.108692774T>C | CA413855306 | COL4A5 | c.4555T>C (p.Phe1519Leu) c.4537T>C (p.Phe1513Leu) n.1049T>C c.325-3523T>C c.4546T>C (p.Phe1516Leu) c.4231T>C (p.Phe1411Leu) c.2128T>C (p.Phe710Leu) c.4570T>C (p.Phe1524Leu) c.4561T>C (p.Phe1521Leu) c.4552T>C (p.Phe1518Leu) c.2890T>C (p.Phe964Leu) | |
| X | g.108692774T>G | CA413855304 | COL4A5 | c.4555T>G (p.Phe1519Val) c.4537T>G (p.Phe1513Val) n.1049T>G c.325-3523T>G c.4546T>G (p.Phe1516Val) c.4231T>G (p.Phe1411Val) c.2128T>G (p.Phe710Val) c.4570T>G (p.Phe1524Val) c.4561T>G (p.Phe1521Val) c.4552T>G (p.Phe1518Val) c.2890T>G (p.Phe964Val) | |
| X | g.108692775T>A | CA413855309 | COL4A5 | c.4556T>A (p.Phe1519Tyr) c.4538T>A (p.Phe1513Tyr) n.1050T>A c.325-3522T>A c.4547T>A (p.Phe1516Tyr) c.4232T>A (p.Phe1411Tyr) c.2129T>A (p.Phe710Tyr) c.4571T>A (p.Phe1524Tyr) c.4562T>A (p.Phe1521Tyr) c.4553T>A (p.Phe1518Tyr) c.2891T>A (p.Phe964Tyr) | |
| X | g.108692775T>C | CA413855310 | COL4A5 | c.4556T>C (p.Phe1519Ser) c.4538T>C (p.Phe1513Ser) n.1050T>C c.325-3522T>C c.4547T>C (p.Phe1516Ser) c.4232T>C (p.Phe1411Ser) c.2129T>C (p.Phe710Ser) c.4571T>C (p.Phe1524Ser) c.4562T>C (p.Phe1521Ser) c.4553T>C (p.Phe1518Ser) c.2891T>C (p.Phe964Ser) | |
| X | g.108692775T>G | CA413855312 | COL4A5 | c.4556T>G (p.Phe1519Cys) c.4538T>G (p.Phe1513Cys) n.1050T>G c.325-3522T>G c.4547T>G (p.Phe1516Cys) c.4232T>G (p.Phe1411Cys) c.2129T>G (p.Phe710Cys) c.4571T>G (p.Phe1524Cys) c.4562T>G (p.Phe1521Cys) c.4553T>G (p.Phe1518Cys) c.2891T>G (p.Phe964Cys) | |
| X | g.108692776T>A | CA413855314 | COL4A5 | c.4557T>A (p.Phe1519Leu) c.4539T>A (p.Phe1513Leu) n.1051T>A c.325-3521T>A c.4548T>A (p.Phe1516Leu) c.4233T>A (p.Phe1411Leu) c.2130T>A (p.Phe710Leu) c.4572T>A (p.Phe1524Leu) c.4563T>A (p.Phe1521Leu) c.4554T>A (p.Phe1518Leu) c.2892T>A (p.Phe964Leu) | |
| X | g.108692776T>C | CA517925097 | COL4A5 | c.4557T>C (p.Phe1519=) c.4539T>C (p.Phe1513=) n.1051T>C c.325-3521T>C c.4548T>C (p.Phe1516=) c.4233T>C (p.Phe1411=) c.2130T>C (p.Phe710=) c.4572T>C (p.Phe1524=) c.4563T>C (p.Phe1521=) c.4554T>C (p.Phe1518=) c.2892T>C (p.Phe964=) | |
| X | g.108692776T>G | CA413855316 | COL4A5 | c.4557T>G (p.Phe1519Leu) c.4539T>G (p.Phe1513Leu) n.1051T>G c.325-3521T>G c.4548T>G (p.Phe1516Leu) c.4233T>G (p.Phe1411Leu) c.2130T>G (p.Phe710Leu) c.4572T>G (p.Phe1524Leu) c.4563T>G (p.Phe1521Leu) c.4554T>G (p.Phe1518Leu) c.2892T>G (p.Phe964Leu) | |
| X | g.108692777A= | CA2450720844 | COL4A5 | c.4558A= (p.Ser1520=) c.4540A= (p.Ser1514=) n.1052A= c.325-3520A= c.4549A= (p.Ser1517=) c.4234A= (p.Ser1412=) c.2131A= (p.Ser711=) c.4573A= (p.Ser1525=) c.4564A= (p.Ser1522=) c.4555A= (p.Ser1519=) c.2893A= (p.Ser965=) | |
| X | g.108692777A>C | CA413855318 | COL4A5 | c.4558A>C (p.Ser1520Arg) c.4540A>C (p.Ser1514Arg) n.1052A>C c.325-3520A>C c.4549A>C (p.Ser1517Arg) c.4234A>C (p.Ser1412Arg) c.2131A>C (p.Ser711Arg) c.4573A>C (p.Ser1525Arg) c.4564A>C (p.Ser1522Arg) c.4555A>C (p.Ser1519Arg) c.2893A>C (p.Ser965Arg) | |
| X | g.108692777A>G | CA10489382 | COL4A5 | c.4558A>G (p.Ser1520Gly) c.4540A>G (p.Ser1514Gly) n.1052A>G c.325-3520A>G c.4549A>G (p.Ser1517Gly) c.4234A>G (p.Ser1412Gly) c.2131A>G (p.Ser711Gly) c.4573A>G (p.Ser1525Gly) c.4564A>G (p.Ser1522Gly) c.4555A>G (p.Ser1519Gly) c.2893A>G (p.Ser965Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108692777A>T | CA413855321 | COL4A5 | c.4558A>T (p.Ser1520Cys) c.4540A>T (p.Ser1514Cys) n.1052A>T c.325-3520A>T c.4549A>T (p.Ser1517Cys) c.4234A>T (p.Ser1412Cys) c.2131A>T (p.Ser711Cys) c.4573A>T (p.Ser1525Cys) c.4564A>T (p.Ser1522Cys) c.4555A>T (p.Ser1519Cys) c.2893A>T (p.Ser965Cys) | |
| X | g.108692778G>A | CA413855323 | COL4A5 | c.4559G>A (p.Ser1520Asn) c.4541G>A (p.Ser1514Asn) n.1053G>A c.325-3519G>A c.4550G>A (p.Ser1517Asn) c.4235G>A (p.Ser1412Asn) c.2132G>A (p.Ser711Asn) c.4574G>A (p.Ser1525Asn) c.4565G>A (p.Ser1522Asn) c.4556G>A (p.Ser1519Asn) c.2894G>A (p.Ser965Asn) | gnomAD v4 |
| X | g.108692778G>C | CA413855325 | COL4A5 | c.4559G>C (p.Ser1520Thr) c.4541G>C (p.Ser1514Thr) n.1053G>C c.325-3519G>C c.4550G>C (p.Ser1517Thr) c.4235G>C (p.Ser1412Thr) c.2132G>C (p.Ser711Thr) c.4574G>C (p.Ser1525Thr) c.4565G>C (p.Ser1522Thr) c.4556G>C (p.Ser1519Thr) c.2894G>C (p.Ser965Thr) | |
| X | g.108692778G>T | CA413855327 | COL4A5 | c.4559G>T (p.Ser1520Ile) c.4541G>T (p.Ser1514Ile) n.1053G>T c.325-3519G>T c.4550G>T (p.Ser1517Ile) c.4235G>T (p.Ser1412Ile) c.2132G>T (p.Ser711Ile) c.4574G>T (p.Ser1525Ile) c.4565G>T (p.Ser1522Ile) c.4556G>T (p.Ser1519Ile) c.2894G>T (p.Ser965Ile) | gnomAD v4 |
| X | g.108692779T>A | CA413855329 | COL4A5 | c.4560T>A (p.Ser1520Arg) c.4542T>A (p.Ser1514Arg) n.1054T>A c.325-3518T>A c.4551T>A (p.Ser1517Arg) c.4236T>A (p.Ser1412Arg) c.2133T>A (p.Ser711Arg) c.4575T>A (p.Ser1525Arg) c.4566T>A (p.Ser1522Arg) c.4557T>A (p.Ser1519Arg) c.2895T>A (p.Ser965Arg) | |
| X | g.108692779T>C | CA517925108 | COL4A5 | c.4560T>C (p.Ser1520=) c.4542T>C (p.Ser1514=) n.1054T>C c.325-3518T>C c.4551T>C (p.Ser1517=) c.4236T>C (p.Ser1412=) c.2133T>C (p.Ser711=) c.4575T>C (p.Ser1525=) c.4566T>C (p.Ser1522=) c.4557T>C (p.Ser1519=) c.2895T>C (p.Ser965=) | |
| X | g.108692779T>G | CA413855331 | COL4A5 | c.4560T>G (p.Ser1520Arg) c.4542T>G (p.Ser1514Arg) n.1054T>G c.325-3518T>G c.4551T>G (p.Ser1517Arg) c.4236T>G (p.Ser1412Arg) c.2133T>G (p.Ser711Arg) c.4575T>G (p.Ser1525Arg) c.4566T>G (p.Ser1522Arg) c.4557T>G (p.Ser1519Arg) c.2895T>G (p.Ser965Arg) | |
| X | g.108692780A= | CA2450720845 | COL4A5 | c.4561A= (p.Thr1521=) c.4543A= (p.Thr1515=) n.1055A= c.325-3517A= c.4552A= (p.Thr1518=) c.4237A= (p.Thr1413=) c.2134A= (p.Thr712=) c.4576A= (p.Thr1526=) c.4567A= (p.Thr1523=) c.4558A= (p.Thr1520=) c.2896A= (p.Thr966=) | |
| X | g.108692780A>C | CA413855336 | COL4A5 | c.4561A>C (p.Thr1521Pro) c.4543A>C (p.Thr1515Pro) n.1055A>C c.325-3517A>C c.4552A>C (p.Thr1518Pro) c.4237A>C (p.Thr1413Pro) c.2134A>C (p.Thr712Pro) c.4576A>C (p.Thr1526Pro) c.4567A>C (p.Thr1523Pro) c.4558A>C (p.Thr1520Pro) c.2896A>C (p.Thr966Pro) | |
| X | g.108692780A>G | CA334061571 | COL4A5 | c.4561A>G (p.Thr1521Ala) c.4543A>G (p.Thr1515Ala) n.1055A>G c.325-3517A>G c.4552A>G (p.Thr1518Ala) c.4237A>G (p.Thr1413Ala) c.2134A>G (p.Thr712Ala) c.4576A>G (p.Thr1526Ala) c.4567A>G (p.Thr1523Ala) c.4558A>G (p.Thr1520Ala) c.2896A>G (p.Thr966Ala) | dbSNP |
| X | g.108692780A>T | CA413855333 | COL4A5 | c.4561A>T (p.Thr1521Ser) c.4543A>T (p.Thr1515Ser) n.1055A>T c.325-3517A>T c.4552A>T (p.Thr1518Ser) c.4237A>T (p.Thr1413Ser) c.2134A>T (p.Thr712Ser) c.4576A>T (p.Thr1526Ser) c.4567A>T (p.Thr1523Ser) c.4558A>T (p.Thr1520Ser) c.2896A>T (p.Thr966Ser) | |
| X | g.108692781C>A | CA413855338 | COL4A5 | c.4562C>A (p.Thr1521Asn) c.4544C>A (p.Thr1515Asn) n.1056C>A c.325-3516C>A c.4553C>A (p.Thr1518Asn) c.4238C>A (p.Thr1413Asn) c.2135C>A (p.Thr712Asn) c.4577C>A (p.Thr1526Asn) c.4568C>A (p.Thr1523Asn) c.4559C>A (p.Thr1520Asn) c.2897C>A (p.Thr966Asn) | |
| X | g.108692781C>G | CA413855340 | COL4A5 | c.4562C>G (p.Thr1521Ser) c.4544C>G (p.Thr1515Ser) n.1056C>G c.325-3516C>G c.4553C>G (p.Thr1518Ser) c.4238C>G (p.Thr1413Ser) c.2135C>G (p.Thr712Ser) c.4577C>G (p.Thr1526Ser) c.4568C>G (p.Thr1523Ser) c.4559C>G (p.Thr1520Ser) c.2897C>G (p.Thr966Ser) | |
| X | g.108692781C>T | CA413855342 | COL4A5 | c.4562C>T (p.Thr1521Ile) c.4544C>T (p.Thr1515Ile) n.1056C>T c.325-3516C>T c.4553C>T (p.Thr1518Ile) c.4238C>T (p.Thr1413Ile) c.2135C>T (p.Thr712Ile) c.4577C>T (p.Thr1526Ile) c.4568C>T (p.Thr1523Ile) c.4559C>T (p.Thr1520Ile) c.2897C>T (p.Thr966Ile) | COSMIC COSMIC |
| X | g.108692782C>A | CA517925111 | COL4A5 | c.4563C>A (p.Thr1521=) c.4545C>A (p.Thr1515=) n.1057C>A c.325-3515C>A c.4554C>A (p.Thr1518=) c.4239C>A (p.Thr1413=) c.2136C>A (p.Thr712=) c.4578C>A (p.Thr1526=) c.4569C>A (p.Thr1523=) c.4560C>A (p.Thr1520=) c.2898C>A (p.Thr966=) | |
| X | g.108692782C>G | CA517925113 | COL4A5 | c.4563C>G (p.Thr1521=) c.4545C>G (p.Thr1515=) n.1057C>G c.325-3515C>G c.4554C>G (p.Thr1518=) c.4239C>G (p.Thr1413=) c.2136C>G (p.Thr712=) c.4578C>G (p.Thr1526=) c.4569C>G (p.Thr1523=) c.4560C>G (p.Thr1520=) c.2898C>G (p.Thr966=) | |
| X | g.108692782C>T | CA517925114 | COL4A5 | c.4563C>T (p.Thr1521=) c.4545C>T (p.Thr1515=) n.1057C>T c.325-3515C>T c.4554C>T (p.Thr1518=) c.4239C>T (p.Thr1413=) c.2136C>T (p.Thr712=) c.4578C>T (p.Thr1526=) c.4569C>T (p.Thr1523=) c.4560C>T (p.Thr1520=) c.2898C>T (p.Thr966=) | |
| X | g.108692783A>C | CA413855344 | COL4A5 | c.4564A>C (p.Met1522Leu) c.4546A>C (p.Met1516Leu) n.1058A>C c.325-3514A>C c.4555A>C (p.Met1519Leu) c.4240A>C (p.Met1414Leu) c.2137A>C (p.Met713Leu) c.4579A>C (p.Met1527Leu) c.4570A>C (p.Met1524Leu) c.4561A>C (p.Met1521Leu) c.2899A>C (p.Met967Leu) | |
| X | g.108692783A>G | CA413855345 | COL4A5 | c.4564A>G (p.Met1522Val) c.4546A>G (p.Met1516Val) n.1058A>G c.325-3514A>G c.4555A>G (p.Met1519Val) c.4240A>G (p.Met1414Val) c.2137A>G (p.Met713Val) c.4579A>G (p.Met1527Val) c.4570A>G (p.Met1524Val) c.4561A>G (p.Met1521Val) c.2899A>G (p.Met967Val) | |
| X | g.108692783A>T | CA413855347 | COL4A5 | c.4564A>T (p.Met1522Leu) c.4546A>T (p.Met1516Leu) n.1058A>T c.325-3514A>T c.4555A>T (p.Met1519Leu) c.4240A>T (p.Met1414Leu) c.2137A>T (p.Met713Leu) c.4579A>T (p.Met1527Leu) c.4570A>T (p.Met1524Leu) c.4561A>T (p.Met1521Leu) c.2899A>T (p.Met967Leu) |