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.108695330_108695343dup | CA2695235251 | COL4A5 | c.4885_4898dup (p.Pro1634SerfsTer30) c.4867_4880dup (p.Pro1628SerfsTer30) n.1379_1392dup n.1716_1729dup c.219+409_219+422dup (n.219+409_219+422dup) c.325-967_325-954dup c.4876_4889dup (p.Pro1631SerfsTer30) c.4561_4574dup (p.Pro1526SerfsTer30) c.2458_2471dup (p.Pro825SerfsTer30) c.4900_4913dup (p.Pro1639SerfsTer30) c.4891_4904dup (p.Pro1636SerfsTer30) c.4882_4895dup (p.Pro1633SerfsTer30) c.3220_3233dup (p.Pro1079SerfsTer30) | |
| X | g.108695342G>A | CA414132795 | COL4A5 | c.4897G>A (p.Ala1633Thr) c.4879G>A (p.Ala1627Thr) n.1391G>A n.1728G>A c.219+421G>A (n.219+421G>A) c.325-955G>A c.4888G>A (p.Ala1630Thr) c.4573G>A (p.Ala1525Thr) c.2470G>A (p.Ala824Thr) c.4912G>A (p.Ala1638Thr) c.4903G>A (p.Ala1635Thr) c.4894G>A (p.Ala1632Thr) c.3232G>A (p.Ala1078Thr) | |
| X | g.108695342G>C | CA414132796 | COL4A5 | c.4897G>C (p.Ala1633Pro) c.4879G>C (p.Ala1627Pro) n.1391G>C n.1728G>C c.219+421G>C (n.219+421G>C) c.325-955G>C c.4888G>C (p.Ala1630Pro) c.4573G>C (p.Ala1525Pro) c.2470G>C (p.Ala824Pro) c.4912G>C (p.Ala1638Pro) c.4903G>C (p.Ala1635Pro) c.4894G>C (p.Ala1632Pro) c.3232G>C (p.Ala1078Pro) | |
| X | g.108695342G>T | CA414132797 | COL4A5 | c.4897G>T (p.Ala1633Ser) c.4879G>T (p.Ala1627Ser) n.1391G>T n.1728G>T c.219+421G>T (n.219+421G>T) c.325-955G>T c.4888G>T (p.Ala1630Ser) c.4573G>T (p.Ala1525Ser) c.2470G>T (p.Ala824Ser) c.4912G>T (p.Ala1638Ser) c.4903G>T (p.Ala1635Ser) c.4894G>T (p.Ala1632Ser) c.3232G>T (p.Ala1078Ser) | |
| X | g.108695342_108695346delinsGCTCC | CA2450721750 | COL4A5 | c.4897_4901delinsGCTCC (p.Ala1633=) c.4879_4883delinsGCTCC (p.Ala1627=) n.1391_1395delinsGCTCC n.1728_1732delinsGCTCC c.219+421_219+425delinsGCTCC (n.219+421_219+425delinsGCTCC) c.325-955_325-951delinsGCTCC c.4888_4892delinsGCTCC (p.Ala1630=) c.4573_4577delinsGCTCC (p.Ala1525=) c.2470_2474delinsGCTCC (p.Ala824=) c.4912_4916delinsGCTCC (p.Ala1638=) c.4903_4907delinsGCTCC (p.Ala1635=) c.4894_4898delinsGCTCC (p.Ala1632=) c.3232_3236delinsGCTCC (p.Ala1078=) | |
| X | g.108695343C>A | CA414132799 | COL4A5 | c.4898C>A (p.Ala1633Asp) c.4880C>A (p.Ala1627Asp) n.1392C>A n.1729C>A c.219+422C>A (n.219+422C>A) c.325-954C>A c.4889C>A (p.Ala1630Asp) c.4574C>A (p.Ala1525Asp) c.2471C>A (p.Ala824Asp) c.4913C>A (p.Ala1638Asp) c.4904C>A (p.Ala1635Asp) c.4895C>A (p.Ala1632Asp) c.3233C>A (p.Ala1078Asp) | |
| X | g.108695343C= | CA2450721751 | COL4A5 | c.4898C= (p.Ala1633=) c.4880C= (p.Ala1627=) n.1392C= n.1729C= c.219+422C= (n.219+422C=) c.325-954C= c.4889C= (p.Ala1630=) c.4574C= (p.Ala1525=) c.2471C= (p.Ala824=) c.4913C= (p.Ala1638=) c.4904C= (p.Ala1635=) c.4895C= (p.Ala1632=) c.3233C= (p.Ala1078=) | |
| X | g.108695343C>G | CA414132798 | COL4A5 | c.4898C>G (p.Ala1633Gly) c.4880C>G (p.Ala1627Gly) n.1392C>G n.1729C>G c.219+422C>G (n.219+422C>G) c.325-954C>G c.4889C>G (p.Ala1630Gly) c.4574C>G (p.Ala1525Gly) c.2471C>G (p.Ala824Gly) c.4913C>G (p.Ala1638Gly) c.4904C>G (p.Ala1635Gly) c.4895C>G (p.Ala1632Gly) c.3233C>G (p.Ala1078Gly) | |
| X | g.108695343C>T | CA334063356 | COL4A5 | c.4898C>T (p.Ala1633Val) c.4880C>T (p.Ala1627Val) n.1392C>T n.1729C>T c.219+422C>T (n.219+422C>T) c.325-954C>T c.4889C>T (p.Ala1630Val) c.4574C>T (p.Ala1525Val) c.2471C>T (p.Ala824Val) c.4913C>T (p.Ala1638Val) c.4904C>T (p.Ala1635Val) c.4895C>T (p.Ala1632Val) c.3233C>T (p.Ala1078Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108695345_108695348del | CA10588942 | COL4A5 | c.4900_4903del (p.Pro1634SerfsTer24) c.4882_4885del (p.Pro1628SerfsTer24) n.1394_1397del n.1731_1734del c.219+424_219+427del (n.219+424_219+427del) c.325-952_325-949del c.4891_4894del (p.Pro1631SerfsTer24) c.4576_4579del (p.Pro1526SerfsTer24) c.2473_2476del (p.Pro825SerfsTer24) c.4915_4918del (p.Pro1639SerfsTer24) c.4906_4909del (p.Pro1636SerfsTer24) c.4897_4900del (p.Pro1633SerfsTer24) c.3235_3238del (p.Pro1079SerfsTer24) | ClinVar dbSNP |
| X | g.108695344T>A | CA517926110 | COL4A5 | c.4899T>A (p.Ala1633=) c.4881T>A (p.Ala1627=) n.1393T>A n.1730T>A c.219+423T>A (n.219+423T>A) c.325-953T>A c.4890T>A (p.Ala1630=) c.4575T>A (p.Ala1525=) c.2472T>A (p.Ala824=) c.4914T>A (p.Ala1638=) c.4905T>A (p.Ala1635=) c.4896T>A (p.Ala1632=) c.3234T>A (p.Ala1078=) | |
| X | g.108695344T>C | CA517926111 | COL4A5 | c.4899T>C (p.Ala1633=) c.4881T>C (p.Ala1627=) n.1393T>C n.1730T>C c.219+423T>C (n.219+423T>C) c.325-953T>C c.4890T>C (p.Ala1630=) c.4575T>C (p.Ala1525=) c.2472T>C (p.Ala824=) c.4914T>C (p.Ala1638=) c.4905T>C (p.Ala1635=) c.4896T>C (p.Ala1632=) c.3234T>C (p.Ala1078=) | |
| X | g.108695344T>G | CA517926112 | COL4A5 | c.4899T>G (p.Ala1633=) c.4881T>G (p.Ala1627=) n.1393T>G n.1730T>G c.219+423T>G (n.219+423T>G) c.325-953T>G c.4890T>G (p.Ala1630=) c.4575T>G (p.Ala1525=) c.2472T>G (p.Ala824=) c.4914T>G (p.Ala1638=) c.4905T>G (p.Ala1635=) c.4896T>G (p.Ala1632=) c.3234T>G (p.Ala1078=) | |
| X | g.108695345C>A | CA414132800 | COL4A5 | c.4900C>A (p.Pro1634Thr) c.4882C>A (p.Pro1628Thr) n.1394C>A n.1731C>A c.219+424C>A (n.219+424C>A) c.325-952C>A c.4891C>A (p.Pro1631Thr) c.4576C>A (p.Pro1526Thr) c.2473C>A (p.Pro825Thr) c.4915C>A (p.Pro1639Thr) c.4906C>A (p.Pro1636Thr) c.4897C>A (p.Pro1633Thr) c.3235C>A (p.Pro1079Thr) | |
| X | g.108695345C>G | CA414132801 | COL4A5 | c.4900C>G (p.Pro1634Ala) c.4882C>G (p.Pro1628Ala) n.1394C>G n.1731C>G c.219+424C>G (n.219+424C>G) c.325-952C>G c.4891C>G (p.Pro1631Ala) c.4576C>G (p.Pro1526Ala) c.2473C>G (p.Pro825Ala) c.4915C>G (p.Pro1639Ala) c.4906C>G (p.Pro1636Ala) c.4897C>G (p.Pro1633Ala) c.3235C>G (p.Pro1079Ala) | |
| X | g.108695345C>T | CA414132802 | COL4A5 | c.4900C>T (p.Pro1634Ser) c.4882C>T (p.Pro1628Ser) n.1394C>T n.1731C>T c.219+424C>T (n.219+424C>T) c.325-952C>T c.4891C>T (p.Pro1631Ser) c.4576C>T (p.Pro1526Ser) c.2473C>T (p.Pro825Ser) c.4915C>T (p.Pro1639Ser) c.4906C>T (p.Pro1636Ser) c.4897C>T (p.Pro1633Ser) c.3235C>T (p.Pro1079Ser) | COSMIC COSMIC |
| X | g.108695346C>A | CA414132803 | COL4A5 | c.4901C>A (p.Pro1634His) c.4883C>A (p.Pro1628His) n.1395C>A n.1732C>A c.219+425C>A (n.219+425C>A) c.325-951C>A c.4892C>A (p.Pro1631His) c.4577C>A (p.Pro1526His) c.2474C>A (p.Pro825His) c.4916C>A (p.Pro1639His) c.4907C>A (p.Pro1636His) c.4898C>A (p.Pro1633His) c.3236C>A (p.Pro1079His) | |
| X | g.108695346C>G | CA414132804 | COL4A5 | c.4901C>G (p.Pro1634Arg) c.4883C>G (p.Pro1628Arg) n.1395C>G n.1732C>G c.219+425C>G (n.219+425C>G) c.325-951C>G c.4892C>G (p.Pro1631Arg) c.4577C>G (p.Pro1526Arg) c.2474C>G (p.Pro825Arg) c.4916C>G (p.Pro1639Arg) c.4907C>G (p.Pro1636Arg) c.4898C>G (p.Pro1633Arg) c.3236C>G (p.Pro1079Arg) | |
| X | g.108695346C>T | CA414132805 | COL4A5 | c.4901C>T (p.Pro1634Leu) c.4883C>T (p.Pro1628Leu) n.1395C>T n.1732C>T c.219+425C>T (n.219+425C>T) c.325-951C>T c.4892C>T (p.Pro1631Leu) c.4577C>T (p.Pro1526Leu) c.2474C>T (p.Pro825Leu) c.4916C>T (p.Pro1639Leu) c.4907C>T (p.Pro1636Leu) c.4898C>T (p.Pro1633Leu) c.3236C>T (p.Pro1079Leu) | COSMIC COSMIC |
| X | g.108695347C>A | CA517926115 | COL4A5 | c.4902C>A (p.Pro1634=) c.4884C>A (p.Pro1628=) n.1396C>A n.1733C>A c.219+426C>A (n.219+426C>A) c.325-950C>A c.4893C>A (p.Pro1631=) c.4578C>A (p.Pro1526=) c.2475C>A (p.Pro825=) c.4917C>A (p.Pro1639=) c.4908C>A (p.Pro1636=) c.4899C>A (p.Pro1633=) c.3237C>A (p.Pro1079=) | |
| X | g.108695347C= | CA2450721752 | COL4A5 | c.4902C= (p.Pro1634=) c.4884C= (p.Pro1628=) n.1396C= n.1733C= c.219+426C= (n.219+426C=) c.325-950C= c.4893C= (p.Pro1631=) c.4578C= (p.Pro1526=) c.2475C= (p.Pro825=) c.4917C= (p.Pro1639=) c.4908C= (p.Pro1636=) c.4899C= (p.Pro1633=) c.3237C= (p.Pro1079=) | |
| X | g.108695347C>G | CA517926114 | COL4A5 | c.4902C>G (p.Pro1634=) c.4884C>G (p.Pro1628=) n.1396C>G n.1733C>G c.219+426C>G (n.219+426C>G) c.325-950C>G c.4893C>G (p.Pro1631=) c.4578C>G (p.Pro1526=) c.2475C>G (p.Pro825=) c.4917C>G (p.Pro1639=) c.4908C>G (p.Pro1636=) c.4899C>G (p.Pro1633=) c.3237C>G (p.Pro1079=) | |
| X | g.108695347C>T | CA517926113 | COL4A5 | c.4902C>T (p.Pro1634=) c.4884C>T (p.Pro1628=) n.1396C>T n.1733C>T c.219+426C>T (n.219+426C>T) c.325-950C>T c.4893C>T (p.Pro1631=) c.4578C>T (p.Pro1526=) c.2475C>T (p.Pro825=) c.4917C>T (p.Pro1639=) c.4908C>T (p.Pro1636=) c.4899C>T (p.Pro1633=) c.3237C>T (p.Pro1079=) | ClinVar dbSNP gnomAD v4 |
| X | g.108695348T>A | CA414132806 | COL4A5 | c.4903T>A (p.Phe1635Ile) c.4885T>A (p.Phe1629Ile) n.1397T>A n.1734T>A c.219+427T>A (n.219+427T>A) c.325-949T>A c.4894T>A (p.Phe1632Ile) c.4579T>A (p.Phe1527Ile) c.2476T>A (p.Phe826Ile) c.4918T>A (p.Phe1640Ile) c.4909T>A (p.Phe1637Ile) c.4900T>A (p.Phe1634Ile) c.3238T>A (p.Phe1080Ile) | |
| X | g.108695348T>C | CA414132807 | COL4A5 | c.4903T>C (p.Phe1635Leu) c.4885T>C (p.Phe1629Leu) n.1397T>C n.1734T>C c.219+427T>C (n.219+427T>C) c.325-949T>C c.4894T>C (p.Phe1632Leu) c.4579T>C (p.Phe1527Leu) c.2476T>C (p.Phe826Leu) c.4918T>C (p.Phe1640Leu) c.4909T>C (p.Phe1637Leu) c.4900T>C (p.Phe1634Leu) c.3238T>C (p.Phe1080Leu) | |
| X | g.108695348T>G | CA414132808 | COL4A5 | c.4903T>G (p.Phe1635Val) c.4885T>G (p.Phe1629Val) n.1397T>G n.1734T>G c.219+427T>G (n.219+427T>G) c.325-949T>G c.4894T>G (p.Phe1632Val) c.4579T>G (p.Phe1527Val) c.2476T>G (p.Phe826Val) c.4918T>G (p.Phe1640Val) c.4909T>G (p.Phe1637Val) c.4900T>G (p.Phe1634Val) c.3238T>G (p.Phe1080Val) | |
| X | g.108695349T>A | CA414132809 | COL4A5 | c.4904T>A (p.Phe1635Tyr) c.4886T>A (p.Phe1629Tyr) n.1398T>A n.1735T>A c.219+428T>A (n.219+428T>A) c.325-948T>A c.4895T>A (p.Phe1632Tyr) c.4580T>A (p.Phe1527Tyr) c.2477T>A (p.Phe826Tyr) c.4919T>A (p.Phe1640Tyr) c.4910T>A (p.Phe1637Tyr) c.4901T>A (p.Phe1634Tyr) c.3239T>A (p.Phe1080Tyr) | |
| X | g.108695349T>C | CA414132810 | COL4A5 | c.4904T>C (p.Phe1635Ser) c.4886T>C (p.Phe1629Ser) n.1398T>C n.1735T>C c.219+428T>C (n.219+428T>C) c.325-948T>C c.4895T>C (p.Phe1632Ser) c.4580T>C (p.Phe1527Ser) c.2477T>C (p.Phe826Ser) c.4919T>C (p.Phe1640Ser) c.4910T>C (p.Phe1637Ser) c.4901T>C (p.Phe1634Ser) c.3239T>C (p.Phe1080Ser) | |
| X | g.108695349T>G | CA414132811 | COL4A5 | c.4904T>G (p.Phe1635Cys) c.4886T>G (p.Phe1629Cys) n.1398T>G n.1735T>G c.219+428T>G (n.219+428T>G) c.325-948T>G c.4895T>G (p.Phe1632Cys) c.4580T>G (p.Phe1527Cys) c.2477T>G (p.Phe826Cys) c.4919T>G (p.Phe1640Cys) c.4910T>G (p.Phe1637Cys) c.4901T>G (p.Phe1634Cys) c.3239T>G (p.Phe1080Cys) | |
| X | g.108695350C>A | CA414132813 | COL4A5 | c.4905C>A (p.Phe1635Leu) c.4887C>A (p.Phe1629Leu) n.1399C>A n.1736C>A c.219+429C>A (n.219+429C>A) c.325-947C>A c.4896C>A (p.Phe1632Leu) c.4581C>A (p.Phe1527Leu) c.2478C>A (p.Phe826Leu) c.4920C>A (p.Phe1640Leu) c.4911C>A (p.Phe1637Leu) c.4902C>A (p.Phe1634Leu) c.3240C>A (p.Phe1080Leu) | |
| X | g.108695350C= | CA2450721753 | COL4A5 | c.4905C= (p.Phe1635=) c.4887C= (p.Phe1629=) n.1399C= n.1736C= c.219+429C= (n.219+429C=) c.325-947C= c.4896C= (p.Phe1632=) c.4581C= (p.Phe1527=) c.2478C= (p.Phe826=) c.4920C= (p.Phe1640=) c.4911C= (p.Phe1637=) c.4902C= (p.Phe1634=) c.3240C= (p.Phe1080=) | |
| X | g.108695350C>G | CA414132812 | COL4A5 | c.4905C>G (p.Phe1635Leu) c.4887C>G (p.Phe1629Leu) n.1399C>G n.1736C>G c.219+429C>G (n.219+429C>G) c.325-947C>G c.4896C>G (p.Phe1632Leu) c.4581C>G (p.Phe1527Leu) c.2478C>G (p.Phe826Leu) c.4920C>G (p.Phe1640Leu) c.4911C>G (p.Phe1637Leu) c.4902C>G (p.Phe1634Leu) c.3240C>G (p.Phe1080Leu) | |
| X | g.108695350C>T | CA517926116 | COL4A5 | c.4905C>T (p.Phe1635=) c.4887C>T (p.Phe1629=) n.1399C>T n.1736C>T c.219+429C>T (n.219+429C>T) c.325-947C>T c.4896C>T (p.Phe1632=) c.4581C>T (p.Phe1527=) c.2478C>T (p.Phe826=) c.4920C>T (p.Phe1640=) c.4911C>T (p.Phe1637=) c.4902C>T (p.Phe1634=) c.3240C>T (p.Phe1080=) | |
| 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.108695351A>C | CA414132814 | COL4A5 | c.4906A>C (p.Ile1636Leu) c.4888A>C (p.Ile1630Leu) n.1400A>C n.1737A>C c.219+430A>C (n.219+430A>C) c.325-946A>C c.4897A>C (p.Ile1633Leu) c.4582A>C (p.Ile1528Leu) c.2479A>C (p.Ile827Leu) c.4921A>C (p.Ile1641Leu) c.4912A>C (p.Ile1638Leu) c.4903A>C (p.Ile1635Leu) c.3241A>C (p.Ile1081Leu) | |
| X | g.108695351A>G | CA414132815 | COL4A5 | c.4906A>G (p.Ile1636Val) c.4888A>G (p.Ile1630Val) n.1400A>G n.1737A>G c.219+430A>G (n.219+430A>G) c.325-946A>G c.4897A>G (p.Ile1633Val) c.4582A>G (p.Ile1528Val) c.2479A>G (p.Ile827Val) c.4921A>G (p.Ile1641Val) c.4912A>G (p.Ile1638Val) c.4903A>G (p.Ile1635Val) c.3241A>G (p.Ile1081Val) | |
| X | g.108695351A>T | CA414132816 | COL4A5 | c.4906A>T (p.Ile1636Phe) c.4888A>T (p.Ile1630Phe) n.1400A>T n.1737A>T c.219+430A>T (n.219+430A>T) c.325-946A>T c.4897A>T (p.Ile1633Phe) c.4582A>T (p.Ile1528Phe) c.2479A>T (p.Ile827Phe) c.4921A>T (p.Ile1641Phe) c.4912A>T (p.Ile1638Phe) c.4903A>T (p.Ile1635Phe) c.3241A>T (p.Ile1081Phe) | |
| X | g.108695351dup | CA658799837 | COL4A5 | c.4906dup (p.Ile1636AsnfsTer10) c.4888dup (p.Ile1630AsnfsTer10) n.1400dup n.1737dup c.219+430dup (n.219+430dup) c.325-946dup c.4897dup (p.Ile1633AsnfsTer10) c.4582dup (p.Ile1528AsnfsTer10) c.2479dup (p.Ile827AsnfsTer10) c.4921dup (p.Ile1641AsnfsTer10) c.4912dup (p.Ile1638AsnfsTer10) c.4903dup (p.Ile1635AsnfsTer10) c.3241dup (p.Ile1081AsnfsTer10) | ClinVar dbSNP |
| X | g.108695352T>A | CA414132817 | COL4A5 | c.4907T>A (p.Ile1636Asn) c.4889T>A (p.Ile1630Asn) n.1401T>A n.1738T>A c.219+431T>A (n.219+431T>A) c.325-945T>A c.4898T>A (p.Ile1633Asn) c.4583T>A (p.Ile1528Asn) c.2480T>A (p.Ile827Asn) c.4922T>A (p.Ile1641Asn) c.4913T>A (p.Ile1638Asn) c.4904T>A (p.Ile1635Asn) c.3242T>A (p.Ile1081Asn) | |
| X | g.108695352T>C | CA414132818 | COL4A5 | c.4907T>C (p.Ile1636Thr) c.4889T>C (p.Ile1630Thr) n.1401T>C n.1738T>C c.219+431T>C (n.219+431T>C) c.325-945T>C c.4898T>C (p.Ile1633Thr) c.4583T>C (p.Ile1528Thr) c.2480T>C (p.Ile827Thr) c.4922T>C (p.Ile1641Thr) c.4913T>C (p.Ile1638Thr) c.4904T>C (p.Ile1635Thr) c.3242T>C (p.Ile1081Thr) | |
| X | g.108695352T>G | CA414132819 | COL4A5 | c.4907T>G (p.Ile1636Ser) c.4889T>G (p.Ile1630Ser) n.1401T>G n.1738T>G c.219+431T>G (n.219+431T>G) c.325-945T>G c.4898T>G (p.Ile1633Ser) c.4583T>G (p.Ile1528Ser) c.2480T>G (p.Ile827Ser) c.4922T>G (p.Ile1641Ser) c.4913T>G (p.Ile1638Ser) c.4904T>G (p.Ile1635Ser) c.3242T>G (p.Ile1081Ser) | |
| X | g.108695353C>A | CA517926117 | COL4A5 | c.4908C>A (p.Ile1636=) c.4890C>A (p.Ile1630=) n.1402C>A n.1739C>A c.219+432C>A (n.219+432C>A) c.325-944C>A c.4899C>A (p.Ile1633=) c.4584C>A (p.Ile1528=) c.2481C>A (p.Ile827=) c.4923C>A (p.Ile1641=) c.4914C>A (p.Ile1638=) c.4905C>A (p.Ile1635=) c.3243C>A (p.Ile1081=) | |
| X | g.108695353C= | CA2450721754 | COL4A5 | c.4908C= (p.Ile1636=) c.4890C= (p.Ile1630=) n.1402C= n.1739C= c.219+432C= (n.219+432C=) c.325-944C= c.4899C= (p.Ile1633=) c.4584C= (p.Ile1528=) c.2481C= (p.Ile827=) c.4923C= (p.Ile1641=) c.4914C= (p.Ile1638=) c.4905C= (p.Ile1635=) c.3243C= (p.Ile1081=) | |
| X | g.108695353C>G | CA414132820 | COL4A5 | c.4908C>G (p.Ile1636Met) c.4890C>G (p.Ile1630Met) n.1402C>G n.1739C>G c.219+432C>G (n.219+432C>G) c.325-944C>G c.4899C>G (p.Ile1633Met) c.4584C>G (p.Ile1528Met) c.2481C>G (p.Ile827Met) c.4923C>G (p.Ile1641Met) c.4914C>G (p.Ile1638Met) c.4905C>G (p.Ile1635Met) c.3243C>G (p.Ile1081Met) | |
| X | g.108695353C>T | CA10489444 | COL4A5 | c.4908C>T (p.Ile1636=) c.4890C>T (p.Ile1630=) n.1402C>T n.1739C>T c.219+432C>T (n.219+432C>T) c.325-944C>T c.4899C>T (p.Ile1633=) c.4584C>T (p.Ile1528=) c.2481C>T (p.Ile827=) c.4923C>T (p.Ile1641=) c.4914C>T (p.Ile1638=) c.4905C>T (p.Ile1635=) c.3243C>T (p.Ile1081=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108695354G>A | CA414132821 | COL4A5 | c.4909G>A (p.Glu1637Lys) c.4891G>A (p.Glu1631Lys) n.1403G>A n.1740G>A c.219+433G>A (n.219+433G>A) c.325-943G>A c.4900G>A (p.Glu1634Lys) c.4585G>A (p.Glu1529Lys) c.2482G>A (p.Glu828Lys) c.4924G>A (p.Glu1642Lys) c.4915G>A (p.Glu1639Lys) c.4906G>A (p.Glu1636Lys) c.3244G>A (p.Glu1082Lys) | gnomAD v4 COSMIC |
| X | g.108695354G>C | CA414132822 | COL4A5 | c.4909G>C (p.Glu1637Gln) c.4891G>C (p.Glu1631Gln) n.1403G>C n.1740G>C c.219+433G>C (n.219+433G>C) c.325-943G>C c.4900G>C (p.Glu1634Gln) c.4585G>C (p.Glu1529Gln) c.2482G>C (p.Glu828Gln) c.4924G>C (p.Glu1642Gln) c.4915G>C (p.Glu1639Gln) c.4906G>C (p.Glu1636Gln) c.3244G>C (p.Glu1082Gln) | |
| X | g.108695354G>T | CA414132823 | COL4A5 | c.4909G>T (p.Glu1637Ter) c.4891G>T (p.Glu1631Ter) n.1403G>T n.1740G>T c.219+433G>T (n.219+433G>T) c.325-943G>T c.4900G>T (p.Glu1634Ter) c.4585G>T (p.Glu1529Ter) c.2482G>T (p.Glu828Ter) c.4924G>T (p.Glu1642Ter) c.4915G>T (p.Glu1639Ter) c.4906G>T (p.Glu1636Ter) c.3244G>T (p.Glu1082Ter) | |
| X | g.108695355A>C | CA414132824 | COL4A5 | c.4910A>C (p.Glu1637Ala) c.4892A>C (p.Glu1631Ala) n.1404A>C n.1741A>C c.219+434A>C (n.219+434A>C) c.325-942A>C c.4901A>C (p.Glu1634Ala) c.4586A>C (p.Glu1529Ala) c.2483A>C (p.Glu828Ala) c.4925A>C (p.Glu1642Ala) c.4916A>C (p.Glu1639Ala) c.4907A>C (p.Glu1636Ala) c.3245A>C (p.Glu1082Ala) | |
| X | g.108695355A>G | CA414132825 | COL4A5 | c.4910A>G (p.Glu1637Gly) c.4892A>G (p.Glu1631Gly) n.1404A>G n.1741A>G c.219+434A>G (n.219+434A>G) c.325-942A>G c.4901A>G (p.Glu1634Gly) c.4586A>G (p.Glu1529Gly) c.2483A>G (p.Glu828Gly) c.4925A>G (p.Glu1642Gly) c.4916A>G (p.Glu1639Gly) c.4907A>G (p.Glu1636Gly) c.3245A>G (p.Glu1082Gly) | gnomAD v4 |