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.108695352_108695413del | CA2695235252 | COL4A5 | c.4907_4968del (p.Ile1636AsnfsTer10) c.4889_4950del (p.Ile1630AsnfsTer10) n.1401_1462del n.1738_1799del c.219+431_219+492del (n.219+431_219+492del) c.325-945_325-884del c.4898_4959del (p.Ile1633AsnfsTer10) c.4583_4644del (p.Ile1528AsnfsTer10) c.2480_2541del (p.Ile827AsnfsTer10) c.4922_4983del (p.Ile1641AsnfsTer10) c.4913_4974del (p.Ile1638AsnfsTer10) c.4904_4965del (p.Ile1635AsnfsTer10) c.3242_3303del (p.Ile1081AsnfsTer10) | |
| X | g.108695369_108695431delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC | CA2450721761 | COL4A5 | c.4924_4986delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1642=) c.4906_4968delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1636=) n.1418_1480delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC n.1755_1817delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC c.219+448_219+510delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (n.219+448_219+510delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC) c.325-928_325-866delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC c.4915_4977delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1639=) c.4600_4662delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1534=) c.2497_2559delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly833=) c.4939_5001delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1647=) c.4930_4992delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1644=) c.4921_4983delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1641=) c.3259_3321delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1087=) | |
| X | g.108695370G>A | CA414132861 | COL4A5 | c.4925G>A (p.Gly1642Asp) c.4907G>A (p.Gly1636Asp) n.1419G>A n.1756G>A c.219+449G>A (n.219+449G>A) c.325-927G>A c.4916G>A (p.Gly1639Asp) c.4601G>A (p.Gly1534Asp) c.2498G>A (p.Gly833Asp) c.4940G>A (p.Gly1647Asp) c.4931G>A (p.Gly1644Asp) c.4922G>A (p.Gly1641Asp) c.3260G>A (p.Gly1087Asp) | dbSNP |
| X | g.108695370G>C | CA414132860 | COL4A5 | c.4925G>C (p.Gly1642Ala) c.4907G>C (p.Gly1636Ala) n.1419G>C n.1756G>C c.219+449G>C (n.219+449G>C) c.325-927G>C c.4916G>C (p.Gly1639Ala) c.4601G>C (p.Gly1534Ala) c.2498G>C (p.Gly833Ala) c.4940G>C (p.Gly1647Ala) c.4931G>C (p.Gly1644Ala) c.4922G>C (p.Gly1641Ala) c.3260G>C (p.Gly1087Ala) | |
| X | g.108695370G>T | CA414132859 | COL4A5 | c.4925G>T (p.Gly1642Val) c.4907G>T (p.Gly1636Val) n.1419G>T n.1756G>T c.219+449G>T (n.219+449G>T) c.325-927G>T c.4916G>T (p.Gly1639Val) c.4601G>T (p.Gly1534Val) c.2498G>T (p.Gly833Val) c.4940G>T (p.Gly1647Val) c.4931G>T (p.Gly1644Val) c.4922G>T (p.Gly1641Val) c.3260G>T (p.Gly1087Val) | |
| X | g.108695370_108695431del | CA1139667751 | COL4A5 | c.4925_4986del (p.Gly1642AspfsTer4) c.4907_4968del (p.Gly1636AspfsTer4) n.1419_1480del n.1756_1817del c.219+449_219+510del (n.219+449_219+510del) c.325-927_325-866del c.4916_4977del (p.Gly1639AspfsTer4) c.4601_4662del (p.Gly1534AspfsTer4) c.2498_2559del (p.Gly833AspfsTer4) c.4940_5001del (p.Gly1647AspfsTer4) c.4931_4992del (p.Gly1644AspfsTer4) c.4922_4983del (p.Gly1641AspfsTer4) c.3260_3321del (p.Gly1087AspfsTer4) | ClinVar dbSNP |
| X | g.108695371T>A | CA517926126 | COL4A5 | c.4926T>A (p.Gly1642=) c.4908T>A (p.Gly1636=) n.1420T>A n.1757T>A c.219+450T>A (n.219+450T>A) c.325-926T>A c.4917T>A (p.Gly1639=) c.4602T>A (p.Gly1534=) c.2499T>A (p.Gly833=) c.4941T>A (p.Gly1647=) c.4932T>A (p.Gly1644=) c.4923T>A (p.Gly1641=) c.3261T>A (p.Gly1087=) | |
| X | g.108695371T>C | CA517926127 | COL4A5 | c.4926T>C (p.Gly1642=) c.4908T>C (p.Gly1636=) n.1420T>C n.1757T>C c.219+450T>C (n.219+450T>C) c.325-926T>C c.4917T>C (p.Gly1639=) c.4602T>C (p.Gly1534=) c.2499T>C (p.Gly833=) c.4941T>C (p.Gly1647=) c.4932T>C (p.Gly1644=) c.4923T>C (p.Gly1641=) c.3261T>C (p.Gly1087=) | |
| X | g.108695371T>G | CA517926128 | COL4A5 | c.4926T>G (p.Gly1642=) c.4908T>G (p.Gly1636=) n.1420T>G n.1757T>G c.219+450T>G (n.219+450T>G) c.325-926T>G c.4917T>G (p.Gly1639=) c.4602T>G (p.Gly1534=) c.2499T>G (p.Gly833=) c.4941T>G (p.Gly1647=) c.4932T>G (p.Gly1644=) c.4923T>G (p.Gly1641=) c.3261T>G (p.Gly1087=) | |
| X | g.108695372A>C | CA414132862 | COL4A5 | c.4927A>C (p.Thr1643Pro) c.4909A>C (p.Thr1637Pro) n.1421A>C n.1758A>C c.219+451A>C (n.219+451A>C) c.325-925A>C c.4918A>C (p.Thr1640Pro) c.4603A>C (p.Thr1535Pro) c.2500A>C (p.Thr834Pro) c.4942A>C (p.Thr1648Pro) c.4933A>C (p.Thr1645Pro) c.4924A>C (p.Thr1642Pro) c.3262A>C (p.Thr1088Pro) | |
| X | g.108695372A>G | CA414132863 | COL4A5 | c.4927A>G (p.Thr1643Ala) c.4909A>G (p.Thr1637Ala) n.1421A>G n.1758A>G c.219+451A>G (n.219+451A>G) c.325-925A>G c.4918A>G (p.Thr1640Ala) c.4603A>G (p.Thr1535Ala) c.2500A>G (p.Thr834Ala) c.4942A>G (p.Thr1648Ala) c.4933A>G (p.Thr1645Ala) c.4924A>G (p.Thr1642Ala) c.3262A>G (p.Thr1088Ala) | |
| X | g.108695372A>T | CA414132864 | COL4A5 | c.4927A>T (p.Thr1643Ser) c.4909A>T (p.Thr1637Ser) n.1421A>T n.1758A>T c.219+451A>T (n.219+451A>T) c.325-925A>T c.4918A>T (p.Thr1640Ser) c.4603A>T (p.Thr1535Ser) c.2500A>T (p.Thr834Ser) c.4942A>T (p.Thr1648Ser) c.4933A>T (p.Thr1645Ser) c.4924A>T (p.Thr1642Ser) c.3262A>T (p.Thr1088Ser) | |
| X | g.108695373C>A | CA414132865 | COL4A5 | c.4928C>A (p.Thr1643Asn) c.4910C>A (p.Thr1637Asn) n.1422C>A n.1759C>A c.219+452C>A (n.219+452C>A) c.325-924C>A c.4919C>A (p.Thr1640Asn) c.4604C>A (p.Thr1535Asn) c.2501C>A (p.Thr834Asn) c.4943C>A (p.Thr1648Asn) c.4934C>A (p.Thr1645Asn) c.4925C>A (p.Thr1642Asn) c.3263C>A (p.Thr1088Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108695373C= | CA2450721762 | COL4A5 | c.4928C= (p.Thr1643=) c.4910C= (p.Thr1637=) n.1422C= n.1759C= c.219+452C= (n.219+452C=) c.325-924C= c.4919C= (p.Thr1640=) c.4604C= (p.Thr1535=) c.2501C= (p.Thr834=) c.4943C= (p.Thr1648=) c.4934C= (p.Thr1645=) c.4925C= (p.Thr1642=) c.3263C= (p.Thr1088=) | |
| X | g.108695373C>G | CA414132866 | COL4A5 | c.4928C>G (p.Thr1643Ser) c.4910C>G (p.Thr1637Ser) n.1422C>G n.1759C>G c.219+452C>G (n.219+452C>G) c.325-924C>G c.4919C>G (p.Thr1640Ser) c.4604C>G (p.Thr1535Ser) c.2501C>G (p.Thr834Ser) c.4943C>G (p.Thr1648Ser) c.4934C>G (p.Thr1645Ser) c.4925C>G (p.Thr1642Ser) c.3263C>G (p.Thr1088Ser) | |
| X | g.108695373C>T | CA414132867 | COL4A5 | c.4928C>T (p.Thr1643Ile) c.4910C>T (p.Thr1637Ile) n.1422C>T n.1759C>T c.219+452C>T (n.219+452C>T) c.325-924C>T c.4919C>T (p.Thr1640Ile) c.4604C>T (p.Thr1535Ile) c.2501C>T (p.Thr834Ile) c.4943C>T (p.Thr1648Ile) c.4934C>T (p.Thr1645Ile) c.4925C>T (p.Thr1642Ile) c.3263C>T (p.Thr1088Ile) | dbSNP |
| X | g.108695374C>A | CA517926129 | COL4A5 | c.4929C>A (p.Thr1643=) c.4911C>A (p.Thr1637=) n.1423C>A n.1760C>A c.219+453C>A (n.219+453C>A) c.325-923C>A c.4920C>A (p.Thr1640=) c.4605C>A (p.Thr1535=) c.2502C>A (p.Thr834=) c.4944C>A (p.Thr1648=) c.4935C>A (p.Thr1645=) c.4926C>A (p.Thr1642=) c.3264C>A (p.Thr1088=) | |
| X | g.108695374C>G | CA517926130 | COL4A5 | c.4929C>G (p.Thr1643=) c.4911C>G (p.Thr1637=) n.1423C>G n.1760C>G c.219+453C>G (n.219+453C>G) c.325-923C>G c.4920C>G (p.Thr1640=) c.4605C>G (p.Thr1535=) c.2502C>G (p.Thr834=) c.4944C>G (p.Thr1648=) c.4935C>G (p.Thr1645=) c.4926C>G (p.Thr1642=) c.3264C>G (p.Thr1088=) | |
| X | g.108695374C>T | CA517926131 | COL4A5 | c.4929C>T (p.Thr1643=) c.4911C>T (p.Thr1637=) n.1423C>T n.1760C>T c.219+453C>T (n.219+453C>T) c.325-923C>T c.4920C>T (p.Thr1640=) c.4605C>T (p.Thr1535=) c.2502C>T (p.Thr834=) c.4944C>T (p.Thr1648=) c.4935C>T (p.Thr1645=) c.4926C>T (p.Thr1642=) c.3264C>T (p.Thr1088=) | |
| X | g.108695375T>A | CA414132868 | COL4A5 | c.4930T>A (p.Cys1644Ser) c.4912T>A (p.Cys1638Ser) n.1424T>A n.1761T>A c.219+454T>A (n.219+454T>A) c.325-922T>A c.4921T>A (p.Cys1641Ser) c.4606T>A (p.Cys1536Ser) c.2503T>A (p.Cys835Ser) c.4945T>A (p.Cys1649Ser) c.4936T>A (p.Cys1646Ser) c.4927T>A (p.Cys1643Ser) c.3265T>A (p.Cys1089Ser) | |
| X | g.108695375T>C | CA334063387 | COL4A5 | c.4930T>C (p.Cys1644Arg) c.4912T>C (p.Cys1638Arg) n.1424T>C n.1761T>C c.219+454T>C (n.219+454T>C) c.325-922T>C c.4921T>C (p.Cys1641Arg) c.4606T>C (p.Cys1536Arg) c.2503T>C (p.Cys835Arg) c.4945T>C (p.Cys1649Arg) c.4936T>C (p.Cys1646Arg) c.4927T>C (p.Cys1643Arg) c.3265T>C (p.Cys1089Arg) | ClinVar dbSNP |
| X | g.108695375T>G | CA414132869 | COL4A5 | c.4930T>G (p.Cys1644Gly) c.4912T>G (p.Cys1638Gly) n.1424T>G n.1761T>G c.219+454T>G (n.219+454T>G) c.325-922T>G c.4921T>G (p.Cys1641Gly) c.4606T>G (p.Cys1536Gly) c.2503T>G (p.Cys835Gly) c.4945T>G (p.Cys1649Gly) c.4936T>G (p.Cys1646Gly) c.4927T>G (p.Cys1643Gly) c.3265T>G (p.Cys1089Gly) | |
| X | g.108695375T= | CA2450721763 | COL4A5 | c.4930T= (p.Cys1644=) c.4912T= (p.Cys1638=) n.1424T= n.1761T= c.219+454T= (n.219+454T=) c.325-922T= c.4921T= (p.Cys1641=) c.4606T= (p.Cys1536=) c.2503T= (p.Cys835=) c.4945T= (p.Cys1649=) c.4936T= (p.Cys1646=) c.4927T= (p.Cys1643=) c.3265T= (p.Cys1089=) | |
| X | g.108695376G>A | CA259134 | COL4A5 | c.4931G>A (p.Cys1644Tyr) c.4913G>A (p.Cys1638Tyr) n.1425G>A n.1762G>A c.219+455G>A (n.219+455G>A) c.325-921G>A c.4922G>A (p.Cys1641Tyr) c.4607G>A (p.Cys1536Tyr) c.2504G>A (p.Cys835Tyr) c.4946G>A (p.Cys1649Tyr) c.4937G>A (p.Cys1646Tyr) c.4928G>A (p.Cys1643Tyr) c.3266G>A (p.Cys1089Tyr) | ClinVar dbSNP |
| X | g.108695376G>C | CA414132870 | COL4A5 | c.4931G>C (p.Cys1644Ser) c.4913G>C (p.Cys1638Ser) n.1425G>C n.1762G>C c.219+455G>C (n.219+455G>C) c.325-921G>C c.4922G>C (p.Cys1641Ser) c.4607G>C (p.Cys1536Ser) c.2504G>C (p.Cys835Ser) c.4946G>C (p.Cys1649Ser) c.4937G>C (p.Cys1646Ser) c.4928G>C (p.Cys1643Ser) c.3266G>C (p.Cys1089Ser) | |
| X | g.108695376G= | CA2450721764 | COL4A5 | c.4931G= (p.Cys1644=) c.4913G= (p.Cys1638=) n.1425G= n.1762G= c.219+455G= (n.219+455G=) c.325-921G= c.4922G= (p.Cys1641=) c.4607G= (p.Cys1536=) c.2504G= (p.Cys835=) c.4946G= (p.Cys1649=) c.4937G= (p.Cys1646=) c.4928G= (p.Cys1643=) c.3266G= (p.Cys1089=) | |
| X | g.108695376G>T | CA414132871 | COL4A5 | c.4931G>T (p.Cys1644Phe) c.4913G>T (p.Cys1638Phe) n.1425G>T n.1762G>T c.219+455G>T (n.219+455G>T) c.325-921G>T c.4922G>T (p.Cys1641Phe) c.4607G>T (p.Cys1536Phe) c.2504G>T (p.Cys835Phe) c.4946G>T (p.Cys1649Phe) c.4937G>T (p.Cys1646Phe) c.4928G>T (p.Cys1643Phe) c.3266G>T (p.Cys1089Phe) | |
| X | g.108695377T>A | CA414132872 | COL4A5 | c.4932T>A (p.Cys1644Ter) c.4914T>A (p.Cys1638Ter) n.1426T>A n.1763T>A c.219+456T>A (n.219+456T>A) c.325-920T>A c.4923T>A (p.Cys1641Ter) c.4608T>A (p.Cys1536Ter) c.2505T>A (p.Cys835Ter) c.4947T>A (p.Cys1649Ter) c.4938T>A (p.Cys1646Ter) c.4929T>A (p.Cys1643Ter) c.3267T>A (p.Cys1089Ter) | |
| X | g.108695377T>C | CA517926132 | COL4A5 | c.4932T>C (p.Cys1644=) c.4914T>C (p.Cys1638=) n.1426T>C n.1763T>C c.219+456T>C (n.219+456T>C) c.325-920T>C c.4923T>C (p.Cys1641=) c.4608T>C (p.Cys1536=) c.2505T>C (p.Cys835=) c.4947T>C (p.Cys1649=) c.4938T>C (p.Cys1646=) c.4929T>C (p.Cys1643=) c.3267T>C (p.Cys1089=) | |
| X | g.108695377T>G | CA414132873 | COL4A5 | c.4932T>G (p.Cys1644Trp) c.4914T>G (p.Cys1638Trp) n.1426T>G n.1763T>G c.219+456T>G (n.219+456T>G) c.325-920T>G c.4923T>G (p.Cys1641Trp) c.4608T>G (p.Cys1536Trp) c.2505T>G (p.Cys835Trp) c.4947T>G (p.Cys1649Trp) c.4938T>G (p.Cys1646Trp) c.4929T>G (p.Cys1643Trp) c.3267T>G (p.Cys1089Trp) | |
| X | g.108695378A= | CA2450721765 | COL4A5 | c.4933A= (p.Asn1645=) c.4915A= (p.Asn1639=) n.1427A= n.1764A= c.219+457A= (n.219+457A=) c.325-919A= c.4924A= (p.Asn1642=) c.4609A= (p.Asn1537=) c.2506A= (p.Asn836=) c.4948A= (p.Asn1650=) c.4939A= (p.Asn1647=) c.4930A= (p.Asn1644=) c.3268A= (p.Asn1090=) | |
| X | g.108695378A>C | CA414132874 | COL4A5 | c.4933A>C (p.Asn1645His) c.4915A>C (p.Asn1639His) n.1427A>C n.1764A>C c.219+457A>C (n.219+457A>C) c.325-919A>C c.4924A>C (p.Asn1642His) c.4609A>C (p.Asn1537His) c.2506A>C (p.Asn836His) c.4948A>C (p.Asn1650His) c.4939A>C (p.Asn1647His) c.4930A>C (p.Asn1644His) c.3268A>C (p.Asn1090His) | |
| X | g.108695378A>G | CA414132875 | COL4A5 | c.4933A>G (p.Asn1645Asp) c.4915A>G (p.Asn1639Asp) n.1427A>G n.1764A>G c.219+457A>G (n.219+457A>G) c.325-919A>G c.4924A>G (p.Asn1642Asp) c.4609A>G (p.Asn1537Asp) c.2506A>G (p.Asn836Asp) c.4948A>G (p.Asn1650Asp) c.4939A>G (p.Asn1647Asp) c.4930A>G (p.Asn1644Asp) c.3268A>G (p.Asn1090Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108695378A>T | CA414132876 | COL4A5 | c.4933A>T (p.Asn1645Tyr) c.4915A>T (p.Asn1639Tyr) n.1427A>T n.1764A>T c.219+457A>T (n.219+457A>T) c.325-919A>T c.4924A>T (p.Asn1642Tyr) c.4609A>T (p.Asn1537Tyr) c.2506A>T (p.Asn836Tyr) c.4948A>T (p.Asn1650Tyr) c.4939A>T (p.Asn1647Tyr) c.4930A>T (p.Asn1644Tyr) c.3268A>T (p.Asn1090Tyr) | |
| X | g.108695379A>C | CA414132877 | COL4A5 | c.4934A>C (p.Asn1645Thr) c.4916A>C (p.Asn1639Thr) n.1428A>C n.1765A>C c.219+458A>C (n.219+458A>C) c.325-918A>C c.4925A>C (p.Asn1642Thr) c.4610A>C (p.Asn1537Thr) c.2507A>C (p.Asn836Thr) c.4949A>C (p.Asn1650Thr) c.4940A>C (p.Asn1647Thr) c.4931A>C (p.Asn1644Thr) c.3269A>C (p.Asn1090Thr) | |
| X | g.108695379A>G | CA414132878 | COL4A5 | c.4934A>G (p.Asn1645Ser) c.4916A>G (p.Asn1639Ser) n.1428A>G n.1765A>G c.219+458A>G (n.219+458A>G) c.325-918A>G c.4925A>G (p.Asn1642Ser) c.4610A>G (p.Asn1537Ser) c.2507A>G (p.Asn836Ser) c.4949A>G (p.Asn1650Ser) c.4940A>G (p.Asn1647Ser) c.4931A>G (p.Asn1644Ser) c.3269A>G (p.Asn1090Ser) | |
| X | g.108695379A>T | CA414132879 | COL4A5 | c.4934A>T (p.Asn1645Ile) c.4916A>T (p.Asn1639Ile) n.1428A>T n.1765A>T c.219+458A>T (n.219+458A>T) c.325-918A>T c.4925A>T (p.Asn1642Ile) c.4610A>T (p.Asn1537Ile) c.2507A>T (p.Asn836Ile) c.4949A>T (p.Asn1650Ile) c.4940A>T (p.Asn1647Ile) c.4931A>T (p.Asn1644Ile) c.3269A>T (p.Asn1090Ile) | |
| X | g.108695380C>A | CA414132880 | COL4A5 | c.4935C>A (p.Asn1645Lys) c.4917C>A (p.Asn1639Lys) n.1429C>A n.1766C>A c.219+459C>A (n.219+459C>A) c.325-917C>A c.4926C>A (p.Asn1642Lys) c.4611C>A (p.Asn1537Lys) c.2508C>A (p.Asn836Lys) c.4950C>A (p.Asn1650Lys) c.4941C>A (p.Asn1647Lys) c.4932C>A (p.Asn1644Lys) c.3270C>A (p.Asn1090Lys) | |
| X | g.108695380C>G | CA414132881 | COL4A5 | c.4935C>G (p.Asn1645Lys) c.4917C>G (p.Asn1639Lys) n.1429C>G n.1766C>G c.219+459C>G (n.219+459C>G) c.325-917C>G c.4926C>G (p.Asn1642Lys) c.4611C>G (p.Asn1537Lys) c.2508C>G (p.Asn836Lys) c.4950C>G (p.Asn1650Lys) c.4941C>G (p.Asn1647Lys) c.4932C>G (p.Asn1644Lys) c.3270C>G (p.Asn1090Lys) | |
| X | g.108695380C>T | CA517926133 | COL4A5 | c.4935C>T (p.Asn1645=) c.4917C>T (p.Asn1639=) n.1429C>T n.1766C>T c.219+459C>T (n.219+459C>T) c.325-917C>T c.4926C>T (p.Asn1642=) c.4611C>T (p.Asn1537=) c.2508C>T (p.Asn836=) c.4950C>T (p.Asn1650=) c.4941C>T (p.Asn1647=) c.4932C>T (p.Asn1644=) c.3270C>T (p.Asn1090=) | |
| X | g.108695381T>A | CA414132882 | COL4A5 | c.4936T>A (p.Tyr1646Asn) c.4918T>A (p.Tyr1640Asn) n.1430T>A n.1767T>A c.219+460T>A (n.219+460T>A) c.325-916T>A c.4927T>A (p.Tyr1643Asn) c.4612T>A (p.Tyr1538Asn) c.2509T>A (p.Tyr837Asn) c.4951T>A (p.Tyr1651Asn) c.4942T>A (p.Tyr1648Asn) c.4933T>A (p.Tyr1645Asn) c.3271T>A (p.Tyr1091Asn) | |
| X | g.108695381T>C | CA414132883 | COL4A5 | c.4936T>C (p.Tyr1646His) c.4918T>C (p.Tyr1640His) n.1430T>C n.1767T>C c.219+460T>C (n.219+460T>C) c.325-916T>C c.4927T>C (p.Tyr1643His) c.4612T>C (p.Tyr1538His) c.2509T>C (p.Tyr837His) c.4951T>C (p.Tyr1651His) c.4942T>C (p.Tyr1648His) c.4933T>C (p.Tyr1645His) c.3271T>C (p.Tyr1091His) | |
| X | g.108695381T>G | CA414132884 | COL4A5 | c.4936T>G (p.Tyr1646Asp) c.4918T>G (p.Tyr1640Asp) n.1430T>G n.1767T>G c.219+460T>G (n.219+460T>G) c.325-916T>G c.4927T>G (p.Tyr1643Asp) c.4612T>G (p.Tyr1538Asp) c.2509T>G (p.Tyr837Asp) c.4951T>G (p.Tyr1651Asp) c.4942T>G (p.Tyr1648Asp) c.4933T>G (p.Tyr1645Asp) c.3271T>G (p.Tyr1091Asp) | |
| X | g.108695382A= | CA2450721766 | COL4A5 | c.4937A= (p.Tyr1646=) c.4919A= (p.Tyr1640=) n.1431A= n.1768A= c.219+461A= (n.219+461A=) c.325-915A= c.4928A= (p.Tyr1643=) c.4613A= (p.Tyr1538=) c.2510A= (p.Tyr837=) c.4952A= (p.Tyr1651=) c.4943A= (p.Tyr1648=) c.4934A= (p.Tyr1645=) c.3272A= (p.Tyr1091=) | |
| X | g.108695382A>C | CA414132886 | COL4A5 | c.4937A>C (p.Tyr1646Ser) c.4919A>C (p.Tyr1640Ser) n.1431A>C n.1768A>C c.219+461A>C (n.219+461A>C) c.325-915A>C c.4928A>C (p.Tyr1643Ser) c.4613A>C (p.Tyr1538Ser) c.2510A>C (p.Tyr837Ser) c.4952A>C (p.Tyr1651Ser) c.4943A>C (p.Tyr1648Ser) c.4934A>C (p.Tyr1645Ser) c.3272A>C (p.Tyr1091Ser) | |
| X | g.108695382A>G | CA334063393 | COL4A5 | c.4937A>G (p.Tyr1646Cys) c.4919A>G (p.Tyr1640Cys) n.1431A>G n.1768A>G c.219+461A>G (n.219+461A>G) c.325-915A>G c.4928A>G (p.Tyr1643Cys) c.4613A>G (p.Tyr1538Cys) c.2510A>G (p.Tyr837Cys) c.4952A>G (p.Tyr1651Cys) c.4943A>G (p.Tyr1648Cys) c.4934A>G (p.Tyr1645Cys) c.3272A>G (p.Tyr1091Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108695382A>T | CA414132885 | COL4A5 | c.4937A>T (p.Tyr1646Phe) c.4919A>T (p.Tyr1640Phe) n.1431A>T n.1768A>T c.219+461A>T (n.219+461A>T) c.325-915A>T c.4928A>T (p.Tyr1643Phe) c.4613A>T (p.Tyr1538Phe) c.2510A>T (p.Tyr837Phe) c.4952A>T (p.Tyr1651Phe) c.4943A>T (p.Tyr1648Phe) c.4934A>T (p.Tyr1645Phe) c.3272A>T (p.Tyr1091Phe) | |
| X | g.108695383C>A | CA414132887 | COL4A5 | c.4938C>A (p.Tyr1646Ter) c.4920C>A (p.Tyr1640Ter) n.1432C>A n.1769C>A c.219+462C>A (n.219+462C>A) c.325-914C>A c.4929C>A (p.Tyr1643Ter) c.4614C>A (p.Tyr1538Ter) c.2511C>A (p.Tyr837Ter) c.4953C>A (p.Tyr1651Ter) c.4944C>A (p.Tyr1648Ter) c.4935C>A (p.Tyr1645Ter) c.3273C>A (p.Tyr1091Ter) | |
| X | g.108695383C= | CA2450721767 | COL4A5 | c.4938C= (p.Tyr1646=) c.4920C= (p.Tyr1640=) n.1432C= n.1769C= c.219+462C= (n.219+462C=) c.325-914C= c.4929C= (p.Tyr1643=) c.4614C= (p.Tyr1538=) c.2511C= (p.Tyr837=) c.4953C= (p.Tyr1651=) c.4944C= (p.Tyr1648=) c.4935C= (p.Tyr1645=) c.3273C= (p.Tyr1091=) | |
| X | g.108695383C>G | CA414132888 | COL4A5 | c.4938C>G (p.Tyr1646Ter) c.4920C>G (p.Tyr1640Ter) n.1432C>G n.1769C>G c.219+462C>G (n.219+462C>G) c.325-914C>G c.4929C>G (p.Tyr1643Ter) c.4614C>G (p.Tyr1538Ter) c.2511C>G (p.Tyr837Ter) c.4953C>G (p.Tyr1651Ter) c.4944C>G (p.Tyr1648Ter) c.4935C>G (p.Tyr1645Ter) c.3273C>G (p.Tyr1091Ter) | ClinVar dbSNP |