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.108687676_108687689del | CA2695235239 | COL4A5 | c.4510_4523del (p.Ala1504LeufsTer12) c.4492_4505del (p.Ala1498LeufsTer12) n.1004_1017del c.306_319del c.4501_4514del (p.Ala1501LeufsTer12) c.4186_4199del (p.Ala1396LeufsTer12) c.2083_2096del (p.Ala695LeufsTer12) c.4525_4538del (p.Ala1509LeufsTer12) c.4516_4529del (p.Ala1506LeufsTer12) c.4507_4520del (p.Ala1503LeufsTer12) c.2845_2858del (p.Ala949LeufsTer12) | |
| X | g.108687675_108687676del | CA259052 | COL4A5 | c.4509_4510del (p.Arg1503SerfsTer17) c.4491_4492del (p.Arg1497SerfsTer17) n.1003_1004del c.305_306del c.4500_4501del (p.Arg1500SerfsTer17) c.4185_4186del (p.Arg1395SerfsTer17) c.2082_2083del (p.Arg694SerfsTer17) c.4524_4525del (p.Arg1508SerfsTer17) c.4515_4516del (p.Arg1505SerfsTer17) c.4506_4507del (p.Arg1502SerfsTer17) c.2844_2845del (p.Arg948SerfsTer17) | dbSNP |
| X | g.108687675A>C | CA413854760 | COL4A5 | c.4509A>C (p.Arg1503Ser) c.4491A>C (p.Arg1497Ser) n.1003A>C c.305A>C c.4500A>C (p.Arg1500Ser) c.4185A>C (p.Arg1395Ser) c.2082A>C (p.Arg694Ser) c.4524A>C (p.Arg1508Ser) c.4515A>C (p.Arg1505Ser) c.4506A>C (p.Arg1502Ser) c.2844A>C (p.Arg948Ser) | |
| X | g.108687675A>G | CA517924687 | COL4A5 | c.4509A>G (p.Arg1503=) c.4491A>G (p.Arg1497=) n.1003A>G c.305A>G c.4500A>G (p.Arg1500=) c.4185A>G (p.Arg1395=) c.2082A>G (p.Arg694=) c.4524A>G (p.Arg1508=) c.4515A>G (p.Arg1505=) c.4506A>G (p.Arg1502=) c.2844A>G (p.Arg948=) | |
| X | g.108687675A>T | CA413854762 | COL4A5 | c.4509A>T (p.Arg1503Ser) c.4491A>T (p.Arg1497Ser) n.1003A>T c.305A>T c.4500A>T (p.Arg1500Ser) c.4185A>T (p.Arg1395Ser) c.2082A>T (p.Arg694Ser) c.4524A>T (p.Arg1508Ser) c.4515A>T (p.Arg1505Ser) c.4506A>T (p.Arg1502Ser) c.2844A>T (p.Arg948Ser) | |
| X | g.108687676del | CA2695235240 | COL4A5 | c.4510del (p.Ala1504ProfsTer?) c.4492del (p.Ala1498ProfsTer?) n.1004del c.306del c.4501del (p.Ala1501ProfsTer?) c.4186del (p.Ala1396ProfsTer?) c.2083del (p.Ala695ProfsTer?) c.4525del (p.Ala1509ProfsTer?) c.4516del (p.Ala1506ProfsTer?) c.4507del (p.Ala1503ProfsTer?) c.2845del (p.Ala949ProfsTer?) | |
| X | g.108687676G>A | CA413854764 | COL4A5 | c.4510G>A (p.Ala1504Thr) c.4492G>A (p.Ala1498Thr) n.1004G>A c.306G>A c.4501G>A (p.Ala1501Thr) c.4186G>A (p.Ala1396Thr) c.2083G>A (p.Ala695Thr) c.4525G>A (p.Ala1509Thr) c.4516G>A (p.Ala1506Thr) c.4507G>A (p.Ala1503Thr) c.2845G>A (p.Ala949Thr) | |
| X | g.108687676G>C | CA413854766 | COL4A5 | c.4510G>C (p.Ala1504Pro) c.4492G>C (p.Ala1498Pro) n.1004G>C c.306G>C c.4501G>C (p.Ala1501Pro) c.4186G>C (p.Ala1396Pro) c.2083G>C (p.Ala695Pro) c.4525G>C (p.Ala1509Pro) c.4516G>C (p.Ala1506Pro) c.4507G>C (p.Ala1503Pro) c.2845G>C (p.Ala949Pro) | |
| X | g.108687676G>T | CA413854768 | COL4A5 | c.4510G>T (p.Ala1504Ser) c.4492G>T (p.Ala1498Ser) n.1004G>T c.306G>T c.4501G>T (p.Ala1501Ser) c.4186G>T (p.Ala1396Ser) c.2083G>T (p.Ala695Ser) c.4525G>T (p.Ala1509Ser) c.4516G>T (p.Ala1506Ser) c.4507G>T (p.Ala1503Ser) c.2845G>T (p.Ala949Ser) | |
| X | g.108687677C>A | CA259055 | COL4A5 | c.4511C>A (p.Ala1504Asp) c.4493C>A (p.Ala1498Asp) n.1005C>A c.307C>A c.4502C>A (p.Ala1501Asp) c.4187C>A (p.Ala1396Asp) c.2084C>A (p.Ala695Asp) c.4526C>A (p.Ala1509Asp) c.4517C>A (p.Ala1506Asp) c.4508C>A (p.Ala1503Asp) c.2846C>A (p.Ala949Asp) | dbSNP |
| X | g.108687677C= | CA2450719243 | COL4A5 | c.4511C= (p.Ala1504=) c.4493C= (p.Ala1498=) n.1005C= c.307C= c.4502C= (p.Ala1501=) c.4187C= (p.Ala1396=) c.2084C= (p.Ala695=) c.4526C= (p.Ala1509=) c.4517C= (p.Ala1506=) c.4508C= (p.Ala1503=) c.2846C= (p.Ala949=) | |
| X | g.108687677C>G | CA413854772 | COL4A5 | c.4511C>G (p.Ala1504Gly) c.4493C>G (p.Ala1498Gly) n.1005C>G c.307C>G c.4502C>G (p.Ala1501Gly) c.4187C>G (p.Ala1396Gly) c.2084C>G (p.Ala695Gly) c.4526C>G (p.Ala1509Gly) c.4517C>G (p.Ala1506Gly) c.4508C>G (p.Ala1503Gly) c.2846C>G (p.Ala949Gly) | |
| X | g.108687677C>T | CA413854774 | COL4A5 | c.4511C>T (p.Ala1504Val) c.4493C>T (p.Ala1498Val) n.1005C>T c.307C>T c.4502C>T (p.Ala1501Val) c.4187C>T (p.Ala1396Val) c.2084C>T (p.Ala695Val) c.4526C>T (p.Ala1509Val) c.4517C>T (p.Ala1506Val) c.4508C>T (p.Ala1503Val) c.2846C>T (p.Ala949Val) | |
| X | g.108687678C>A | CA517924688 | COL4A5 | c.4512C>A (p.Ala1504=) c.4494C>A (p.Ala1498=) n.1006C>A c.308C>A c.4503C>A (p.Ala1501=) c.4188C>A (p.Ala1396=) c.2085C>A (p.Ala695=) c.4527C>A (p.Ala1509=) c.4518C>A (p.Ala1506=) c.4509C>A (p.Ala1503=) c.2847C>A (p.Ala949=) | |
| X | g.108687678C= | CA2450719246 | COL4A5 | c.4512C= (p.Ala1504=) c.4494C= (p.Ala1498=) n.1006C= c.308C= c.4503C= (p.Ala1501=) c.4188C= (p.Ala1396=) c.2085C= (p.Ala695=) c.4527C= (p.Ala1509=) c.4518C= (p.Ala1506=) c.4509C= (p.Ala1503=) c.2847C= (p.Ala949=) | |
| X | g.108687678C>G | CA517924689 | COL4A5 | c.4512C>G (p.Ala1504=) c.4494C>G (p.Ala1498=) n.1006C>G c.308C>G c.4503C>G (p.Ala1501=) c.4188C>G (p.Ala1396=) c.2085C>G (p.Ala695=) c.4527C>G (p.Ala1509=) c.4518C>G (p.Ala1506=) c.4509C>G (p.Ala1503=) c.2847C>G (p.Ala949=) | |
| X | g.108687678C>T | CA517924690 | COL4A5 | c.4512C>T (p.Ala1504=) c.4494C>T (p.Ala1498=) n.1006C>T c.308C>T c.4503C>T (p.Ala1501=) c.4188C>T (p.Ala1396=) c.2085C>T (p.Ala695=) c.4527C>T (p.Ala1509=) c.4518C>T (p.Ala1506=) c.4509C>T (p.Ala1503=) c.2847C>T (p.Ala949=) | ClinVar dbSNP gnomAD v4 |
| X | g.108687679C>A | CA413854776 | COL4A5 | c.4513C>A (p.His1505Asn) c.4495C>A (p.His1499Asn) n.1007C>A c.309C>A c.4504C>A (p.His1502Asn) c.4189C>A (p.His1397Asn) c.2086C>A (p.His696Asn) c.4528C>A (p.His1510Asn) c.4519C>A (p.His1507Asn) c.4510C>A (p.His1504Asn) c.2848C>A (p.His950Asn) | |
| X | g.108687679C>G | CA413854778 | COL4A5 | c.4513C>G (p.His1505Asp) c.4495C>G (p.His1499Asp) n.1007C>G c.309C>G c.4504C>G (p.His1502Asp) c.4189C>G (p.His1397Asp) c.2086C>G (p.His696Asp) c.4528C>G (p.His1510Asp) c.4519C>G (p.His1507Asp) c.4510C>G (p.His1504Asp) c.2848C>G (p.His950Asp) | |
| X | g.108687679C>T | CA413854781 | COL4A5 | c.4513C>T (p.His1505Tyr) c.4495C>T (p.His1499Tyr) n.1007C>T c.309C>T c.4504C>T (p.His1502Tyr) c.4189C>T (p.His1397Tyr) c.2086C>T (p.His696Tyr) c.4528C>T (p.His1510Tyr) c.4519C>T (p.His1507Tyr) c.4510C>T (p.His1504Tyr) c.2848C>T (p.His950Tyr) | |
| X | g.108687680A>C | CA413854788 | COL4A5 | c.4514A>C (p.His1505Pro) c.4496A>C (p.His1499Pro) n.1008A>C c.310A>C c.4505A>C (p.His1502Pro) c.4190A>C (p.His1397Pro) c.2087A>C (p.His696Pro) c.4529A>C (p.His1510Pro) c.4520A>C (p.His1507Pro) c.4511A>C (p.His1504Pro) c.2849A>C (p.His950Pro) | |
| X | g.108687680A>G | CA413854786 | COL4A5 | c.4514A>G (p.His1505Arg) c.4496A>G (p.His1499Arg) n.1008A>G c.310A>G c.4505A>G (p.His1502Arg) c.4190A>G (p.His1397Arg) c.2087A>G (p.His696Arg) c.4529A>G (p.His1510Arg) c.4520A>G (p.His1507Arg) c.4511A>G (p.His1504Arg) c.2849A>G (p.His950Arg) | |
| X | g.108687680A>T | CA413854783 | COL4A5 | c.4514A>T (p.His1505Leu) c.4496A>T (p.His1499Leu) n.1008A>T c.310A>T c.4505A>T (p.His1502Leu) c.4190A>T (p.His1397Leu) c.2087A>T (p.His696Leu) c.4529A>T (p.His1510Leu) c.4520A>T (p.His1507Leu) c.4511A>T (p.His1504Leu) c.2849A>T (p.His950Leu) | |
| X | g.108687681C>A | CA413854790 | COL4A5 | c.4515C>A (p.His1505Gln) c.4497C>A (p.His1499Gln) n.1009C>A c.311C>A c.4506C>A (p.His1502Gln) c.4191C>A (p.His1397Gln) c.2088C>A (p.His696Gln) c.4530C>A (p.His1510Gln) c.4521C>A (p.His1507Gln) c.4512C>A (p.His1504Gln) c.2850C>A (p.His950Gln) | |
| X | g.108687681C= | CA2450719247 | COL4A5 | c.4515C= (p.His1505=) c.4497C= (p.His1499=) n.1009C= c.311C= c.4506C= (p.His1502=) c.4191C= (p.His1397=) c.2088C= (p.His696=) c.4530C= (p.His1510=) c.4521C= (p.His1507=) c.4512C= (p.His1504=) c.2850C= (p.His950=) | |
| X | g.108687681C>G | CA413854792 | COL4A5 | c.4515C>G (p.His1505Gln) c.4497C>G (p.His1499Gln) n.1009C>G c.311C>G c.4506C>G (p.His1502Gln) c.4191C>G (p.His1397Gln) c.2088C>G (p.His696Gln) c.4530C>G (p.His1510Gln) c.4521C>G (p.His1507Gln) c.4512C>G (p.His1504Gln) c.2850C>G (p.His950Gln) | |
| X | g.108687681C>T | CA10489362 | COL4A5 | c.4515C>T (p.His1505=) c.4497C>T (p.His1499=) n.1009C>T c.311C>T c.4506C>T (p.His1502=) c.4191C>T (p.His1397=) c.2088C>T (p.His696=) c.4530C>T (p.His1510=) c.4521C>T (p.His1507=) c.4512C>T (p.His1504=) c.2850C>T (p.His950=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108687682G>A | CA10489363 | COL4A5 | c.4516G>A (p.Gly1506Ser) c.4498G>A (p.Gly1500Ser) n.1010G>A c.312G>A c.4507G>A (p.Gly1503Ser) c.4192G>A (p.Gly1398Ser) c.2089G>A (p.Gly697Ser) c.4531G>A (p.Gly1511Ser) c.4522G>A (p.Gly1508Ser) c.4513G>A (p.Gly1505Ser) c.2851G>A (p.Gly951Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108687682G>C | CA413854796 | COL4A5 | c.4516G>C (p.Gly1506Arg) c.4498G>C (p.Gly1500Arg) n.1010G>C c.312G>C c.4507G>C (p.Gly1503Arg) c.4192G>C (p.Gly1398Arg) c.2089G>C (p.Gly697Arg) c.4531G>C (p.Gly1511Arg) c.4522G>C (p.Gly1508Arg) c.4513G>C (p.Gly1505Arg) c.2851G>C (p.Gly951Arg) | |
| X | g.108687682G= | CA2450719250 | COL4A5 | c.4516G= (p.Gly1506=) c.4498G= (p.Gly1500=) n.1010G= c.312G= c.4507G= (p.Gly1503=) c.4192G= (p.Gly1398=) c.2089G= (p.Gly697=) c.4531G= (p.Gly1511=) c.4522G= (p.Gly1508=) c.4513G= (p.Gly1505=) c.2851G= (p.Gly951=) | |
| X | g.108687682G>T | CA10489364 | COL4A5 | c.4516G>T (p.Gly1506Cys) c.4498G>T (p.Gly1500Cys) n.1010G>T c.312G>T c.4507G>T (p.Gly1503Cys) c.4192G>T (p.Gly1398Cys) c.2089G>T (p.Gly697Cys) c.4531G>T (p.Gly1511Cys) c.4522G>T (p.Gly1508Cys) c.4513G>T (p.Gly1505Cys) c.2851G>T (p.Gly951Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108687683G>A | CA413854799 | COL4A5 | c.4517G>A (p.Gly1506Asp) c.4499G>A (p.Gly1500Asp) n.1011G>A c.313G>A c.4508G>A (p.Gly1503Asp) c.4193G>A (p.Gly1398Asp) c.2090G>A (p.Gly697Asp) c.4532G>A (p.Gly1511Asp) c.4523G>A (p.Gly1508Asp) c.4514G>A (p.Gly1505Asp) c.2852G>A (p.Gly951Asp) | |
| X | g.108687683G>C | CA413854801 | COL4A5 | c.4517G>C (p.Gly1506Ala) c.4499G>C (p.Gly1500Ala) n.1011G>C c.313G>C c.4508G>C (p.Gly1503Ala) c.4193G>C (p.Gly1398Ala) c.2090G>C (p.Gly697Ala) c.4532G>C (p.Gly1511Ala) c.4523G>C (p.Gly1508Ala) c.4514G>C (p.Gly1505Ala) c.2852G>C (p.Gly951Ala) | |
| X | g.108687683G= | CA2450719254 | COL4A5 | c.4517G= (p.Gly1506=) c.4499G= (p.Gly1500=) n.1011G= c.313G= c.4508G= (p.Gly1503=) c.4193G= (p.Gly1398=) c.2090G= (p.Gly697=) c.4532G= (p.Gly1511=) c.4523G= (p.Gly1508=) c.4514G= (p.Gly1505=) c.2852G= (p.Gly951=) | |
| X | g.108687683G>T | CA10489365 | COL4A5 | c.4517G>T (p.Gly1506Val) c.4499G>T (p.Gly1500Val) n.1011G>T c.313G>T c.4508G>T (p.Gly1503Val) c.4193G>T (p.Gly1398Val) c.2090G>T (p.Gly697Val) c.4532G>T (p.Gly1511Val) c.4523G>T (p.Gly1508Val) c.4514G>T (p.Gly1505Val) c.2852G>T (p.Gly951Val) | dbSNP ExAC gnomAD v2 |
| X | g.108687684T>A | CA517924695 | COL4A5 | c.4518T>A (p.Gly1506=) c.4500T>A (p.Gly1500=) n.1012T>A c.314T>A c.4509T>A (p.Gly1503=) c.4194T>A (p.Gly1398=) c.2091T>A (p.Gly697=) c.4533T>A (p.Gly1511=) c.4524T>A (p.Gly1508=) c.4515T>A (p.Gly1505=) c.2853T>A (p.Gly951=) | |
| X | g.108687684T>C | CA517924696 | COL4A5 | c.4518T>C (p.Gly1506=) c.4500T>C (p.Gly1500=) n.1012T>C c.314T>C c.4509T>C (p.Gly1503=) c.4194T>C (p.Gly1398=) c.2091T>C (p.Gly697=) c.4533T>C (p.Gly1511=) c.4524T>C (p.Gly1508=) c.4515T>C (p.Gly1505=) c.2853T>C (p.Gly951=) | |
| X | g.108687684T>G | CA517924697 | COL4A5 | c.4518T>G (p.Gly1506=) c.4500T>G (p.Gly1500=) n.1012T>G c.314T>G c.4509T>G (p.Gly1503=) c.4194T>G (p.Gly1398=) c.2091T>G (p.Gly697=) c.4533T>G (p.Gly1511=) c.4524T>G (p.Gly1508=) c.4515T>G (p.Gly1505=) c.2853T>G (p.Gly951=) | |
| X | g.108687685C>A | CA413854804 | COL4A5 | c.4519C>A (p.Gln1507Lys) c.4501C>A (p.Gln1501Lys) n.1013C>A c.315C>A c.4510C>A (p.Gln1504Lys) c.4195C>A (p.Gln1399Lys) c.2092C>A (p.Gln698Lys) c.4534C>A (p.Gln1512Lys) c.4525C>A (p.Gln1509Lys) c.4516C>A (p.Gln1506Lys) c.2854C>A (p.Gln952Lys) | gnomAD v4 |
| X | g.108687685C= | CA2450719256 | COL4A5 | c.4519C= (p.Gln1507=) c.4501C= (p.Gln1501=) n.1013C= c.315C= c.4510C= (p.Gln1504=) c.4195C= (p.Gln1399=) c.2092C= (p.Gln698=) c.4534C= (p.Gln1512=) c.4525C= (p.Gln1509=) c.4516C= (p.Gln1506=) c.2854C= (p.Gln952=) | |
| X | g.108687685C>G | CA413854806 | COL4A5 | c.4519C>G (p.Gln1507Glu) c.4501C>G (p.Gln1501Glu) n.1013C>G c.315C>G c.4510C>G (p.Gln1504Glu) c.4195C>G (p.Gln1399Glu) c.2092C>G (p.Gln698Glu) c.4534C>G (p.Gln1512Glu) c.4525C>G (p.Gln1509Glu) c.4516C>G (p.Gln1506Glu) c.2854C>G (p.Gln952Glu) | gnomAD v4 |
| X | g.108687685C>T | CA259057 | COL4A5 | c.4519C>T (p.Gln1507Ter) c.4501C>T (p.Gln1501Ter) n.1013C>T c.315C>T c.4510C>T (p.Gln1504Ter) c.4195C>T (p.Gln1399Ter) c.2092C>T (p.Gln698Ter) c.4534C>T (p.Gln1512Ter) c.4525C>T (p.Gln1509Ter) c.4516C>T (p.Gln1506Ter) c.2854C>T (p.Gln952Ter) | dbSNP |
| X | g.108687686A>C | CA413854811 | COL4A5 | c.4520A>C (p.Gln1507Pro) c.4502A>C (p.Gln1501Pro) n.1014A>C c.316A>C c.4511A>C (p.Gln1504Pro) c.4196A>C (p.Gln1399Pro) c.2093A>C (p.Gln698Pro) c.4535A>C (p.Gln1512Pro) c.4526A>C (p.Gln1509Pro) c.4517A>C (p.Gln1506Pro) c.2855A>C (p.Gln952Pro) | |
| X | g.108687686A>G | CA413854809 | COL4A5 | c.4520A>G (p.Gln1507Arg) c.4502A>G (p.Gln1501Arg) n.1014A>G c.316A>G c.4511A>G (p.Gln1504Arg) c.4196A>G (p.Gln1399Arg) c.2093A>G (p.Gln698Arg) c.4535A>G (p.Gln1512Arg) c.4526A>G (p.Gln1509Arg) c.4517A>G (p.Gln1506Arg) c.2855A>G (p.Gln952Arg) | |
| X | g.108687686A>T | CA413854810 | COL4A5 | c.4520A>T (p.Gln1507Leu) c.4502A>T (p.Gln1501Leu) n.1014A>T c.316A>T c.4511A>T (p.Gln1504Leu) c.4196A>T (p.Gln1399Leu) c.2093A>T (p.Gln698Leu) c.4535A>T (p.Gln1512Leu) c.4526A>T (p.Gln1509Leu) c.4517A>T (p.Gln1506Leu) c.2855A>T (p.Gln952Leu) | |
| X | g.108687687A>C | CA413854812 | COL4A5 | c.4521A>C (p.Gln1507His) c.4503A>C (p.Gln1501His) n.1015A>C c.317A>C c.4512A>C (p.Gln1504His) c.4197A>C (p.Gln1399His) c.2094A>C (p.Gln698His) c.4536A>C (p.Gln1512His) c.4527A>C (p.Gln1509His) c.4518A>C (p.Gln1506His) c.2856A>C (p.Gln952His) | |
| X | g.108687687A>G | CA517924699 | COL4A5 | c.4521A>G (p.Gln1507=) c.4503A>G (p.Gln1501=) n.1015A>G c.317A>G c.4512A>G (p.Gln1504=) c.4197A>G (p.Gln1399=) c.2094A>G (p.Gln698=) c.4536A>G (p.Gln1512=) c.4527A>G (p.Gln1509=) c.4518A>G (p.Gln1506=) c.2856A>G (p.Gln952=) | |
| X | g.108687687A>T | CA413854813 | COL4A5 | c.4521A>T (p.Gln1507His) c.4503A>T (p.Gln1501His) n.1015A>T c.317A>T c.4512A>T (p.Gln1504His) c.4197A>T (p.Gln1399His) c.2094A>T (p.Gln698His) c.4536A>T (p.Gln1512His) c.4527A>T (p.Gln1509His) c.4518A>T (p.Gln1506His) c.2856A>T (p.Gln952His) | |
| X | g.108687688G>A | CA413854814 | COL4A5 | c.4522G>A (p.Asp1508Asn) c.4504G>A (p.Asp1502Asn) n.1016G>A c.318G>A c.4513G>A (p.Asp1505Asn) c.4198G>A (p.Asp1400Asn) c.2095G>A (p.Asp699Asn) c.4537G>A (p.Asp1513Asn) c.4528G>A (p.Asp1510Asn) c.4519G>A (p.Asp1507Asn) c.2857G>A (p.Asp953Asn) | gnomAD v4 |
| X | g.108687688G>C | CA413854815 | COL4A5 | c.4522G>C (p.Asp1508His) c.4504G>C (p.Asp1502His) n.1016G>C c.318G>C c.4513G>C (p.Asp1505His) c.4198G>C (p.Asp1400His) c.2095G>C (p.Asp699His) c.4537G>C (p.Asp1513His) c.4528G>C (p.Asp1510His) c.4519G>C (p.Asp1507His) c.2857G>C (p.Asp953His) |