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.108687647C>A | CA413854635 | COL4A5 | c.4481C>A (p.Ser1494Tyr) c.4463C>A (p.Ser1488Tyr) n.975C>A c.277C>A c.4472C>A (p.Ser1491Tyr) c.4157C>A (p.Ser1386Tyr) c.2054C>A (p.Ser685Tyr) c.4496C>A (p.Ser1499Tyr) c.4487C>A (p.Ser1496Tyr) c.4478C>A (p.Ser1493Tyr) c.2816C>A (p.Ser939Tyr) | |
| X | g.108687647C= | CA2450719226 | COL4A5 | c.4481C= (p.Ser1494=) c.4463C= (p.Ser1488=) n.975C= c.277C= c.4472C= (p.Ser1491=) c.4157C= (p.Ser1386=) c.2054C= (p.Ser685=) c.4496C= (p.Ser1499=) c.4487C= (p.Ser1496=) c.4478C= (p.Ser1493=) c.2816C= (p.Ser939=) | |
| X | g.108687647C>G | CA413854637 | COL4A5 | c.4481C>G (p.Ser1494Cys) c.4463C>G (p.Ser1488Cys) n.975C>G c.277C>G c.4472C>G (p.Ser1491Cys) c.4157C>G (p.Ser1386Cys) c.2054C>G (p.Ser685Cys) c.4496C>G (p.Ser1499Cys) c.4487C>G (p.Ser1496Cys) c.4478C>G (p.Ser1493Cys) c.2816C>G (p.Ser939Cys) | |
| X | g.108687647C>T | CA259050 | COL4A5 | c.4481C>T (p.Ser1494Phe) c.4463C>T (p.Ser1488Phe) n.975C>T c.277C>T c.4472C>T (p.Ser1491Phe) c.4157C>T (p.Ser1386Phe) c.2054C>T (p.Ser685Phe) c.4496C>T (p.Ser1499Phe) c.4487C>T (p.Ser1496Phe) c.4478C>T (p.Ser1493Phe) c.2816C>T (p.Ser939Phe) | dbSNP |
| X | g.108687648T>A | CA517924647 | COL4A5 | c.4482T>A (p.Ser1494=) c.4464T>A (p.Ser1488=) n.976T>A c.278T>A c.4473T>A (p.Ser1491=) c.4158T>A (p.Ser1386=) c.2055T>A (p.Ser685=) c.4497T>A (p.Ser1499=) c.4488T>A (p.Ser1496=) c.4479T>A (p.Ser1493=) c.2817T>A (p.Ser939=) | COSMIC COSMIC |
| X | g.108687648T>C | CA517924648 | COL4A5 | c.4482T>C (p.Ser1494=) c.4464T>C (p.Ser1488=) n.976T>C c.278T>C c.4473T>C (p.Ser1491=) c.4158T>C (p.Ser1386=) c.2055T>C (p.Ser685=) c.4497T>C (p.Ser1499=) c.4488T>C (p.Ser1496=) c.4479T>C (p.Ser1493=) c.2817T>C (p.Ser939=) | |
| X | g.108687648T>G | CA517924649 | COL4A5 | c.4482T>G (p.Ser1494=) c.4464T>G (p.Ser1488=) n.976T>G c.278T>G c.4473T>G (p.Ser1491=) c.4158T>G (p.Ser1386=) c.2055T>G (p.Ser685=) c.4497T>G (p.Ser1499=) c.4488T>G (p.Ser1496=) c.4479T>G (p.Ser1493=) c.2817T>G (p.Ser939=) | |
| X | g.108687649C>A | CA413854639 | COL4A5 | c.4483C>A (p.Leu1495Ile) c.4465C>A (p.Leu1489Ile) n.977C>A c.279C>A c.4474C>A (p.Leu1492Ile) c.4159C>A (p.Leu1387Ile) c.2056C>A (p.Leu686Ile) c.4498C>A (p.Leu1500Ile) c.4489C>A (p.Leu1497Ile) c.4480C>A (p.Leu1494Ile) c.2818C>A (p.Leu940Ile) | |
| X | g.108687649C= | CA2450719229 | COL4A5 | c.4483C= (p.Leu1495=) c.4465C= (p.Leu1489=) n.977C= c.279C= c.4474C= (p.Leu1492=) c.4159C= (p.Leu1387=) c.2056C= (p.Leu686=) c.4498C= (p.Leu1500=) c.4489C= (p.Leu1497=) c.4480C= (p.Leu1494=) c.2818C= (p.Leu940=) | |
| X | g.108687649C>G | CA413854641 | COL4A5 | c.4483C>G (p.Leu1495Val) c.4465C>G (p.Leu1489Val) n.977C>G c.279C>G c.4474C>G (p.Leu1492Val) c.4159C>G (p.Leu1387Val) c.2056C>G (p.Leu686Val) c.4498C>G (p.Leu1500Val) c.4489C>G (p.Leu1497Val) c.4480C>G (p.Leu1494Val) c.2818C>G (p.Leu940Val) | |
| X | g.108687649C>T | CA413854643 | COL4A5 | c.4483C>T (p.Leu1495Phe) c.4465C>T (p.Leu1489Phe) n.977C>T c.279C>T c.4474C>T (p.Leu1492Phe) c.4159C>T (p.Leu1387Phe) c.2056C>T (p.Leu686Phe) c.4498C>T (p.Leu1500Phe) c.4489C>T (p.Leu1497Phe) c.4480C>T (p.Leu1494Phe) c.2818C>T (p.Leu940Phe) | dbSNP |
| X | g.108687650T>A | CA413854645 | COL4A5 | c.4484T>A (p.Leu1495His) c.4466T>A (p.Leu1489His) n.978T>A c.280T>A c.4475T>A (p.Leu1492His) c.4160T>A (p.Leu1387His) c.2057T>A (p.Leu686His) c.4499T>A (p.Leu1500His) c.4490T>A (p.Leu1497His) c.4481T>A (p.Leu1494His) c.2819T>A (p.Leu940His) | |
| X | g.108687650T>C | CA413854647 | COL4A5 | c.4484T>C (p.Leu1495Pro) c.4466T>C (p.Leu1489Pro) n.978T>C c.280T>C c.4475T>C (p.Leu1492Pro) c.4160T>C (p.Leu1387Pro) c.2057T>C (p.Leu686Pro) c.4499T>C (p.Leu1500Pro) c.4490T>C (p.Leu1497Pro) c.4481T>C (p.Leu1494Pro) c.2819T>C (p.Leu940Pro) | |
| X | g.108687650T>G | CA413854649 | COL4A5 | c.4484T>G (p.Leu1495Arg) c.4466T>G (p.Leu1489Arg) n.978T>G c.280T>G c.4475T>G (p.Leu1492Arg) c.4160T>G (p.Leu1387Arg) c.2057T>G (p.Leu686Arg) c.4499T>G (p.Leu1500Arg) c.4490T>G (p.Leu1497Arg) c.4481T>G (p.Leu1494Arg) c.2819T>G (p.Leu940Arg) | |
| X | g.108687651C>A | CA10489359 | COL4A5 | c.4485C>A (p.Leu1495=) c.4467C>A (p.Leu1489=) n.979C>A c.281C>A c.4476C>A (p.Leu1492=) c.4161C>A (p.Leu1387=) c.2058C>A (p.Leu686=) c.4500C>A (p.Leu1500=) c.4491C>A (p.Leu1497=) c.4482C>A (p.Leu1494=) c.2820C>A (p.Leu940=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108687651C= | CA2450719230 | COL4A5 | c.4485C= (p.Leu1495=) c.4467C= (p.Leu1489=) n.979C= c.281C= c.4476C= (p.Leu1492=) c.4161C= (p.Leu1387=) c.2058C= (p.Leu686=) c.4500C= (p.Leu1500=) c.4491C= (p.Leu1497=) c.4482C= (p.Leu1494=) c.2820C= (p.Leu940=) | |
| X | g.108687651C>G | CA517924652 | COL4A5 | c.4485C>G (p.Leu1495=) c.4467C>G (p.Leu1489=) n.979C>G c.281C>G c.4476C>G (p.Leu1492=) c.4161C>G (p.Leu1387=) c.2058C>G (p.Leu686=) c.4500C>G (p.Leu1500=) c.4491C>G (p.Leu1497=) c.4482C>G (p.Leu1494=) c.2820C>G (p.Leu940=) | |
| X | g.108687651C>T | CA517924651 | COL4A5 | c.4485C>T (p.Leu1495=) c.4467C>T (p.Leu1489=) n.979C>T c.281C>T c.4476C>T (p.Leu1492=) c.4161C>T (p.Leu1387=) c.2058C>T (p.Leu686=) c.4500C>T (p.Leu1500=) c.4491C>T (p.Leu1497=) c.4482C>T (p.Leu1494=) c.2820C>T (p.Leu940=) | gnomAD v4 |
| X | g.108687652C>A | CA413854652 | COL4A5 | c.4486C>A (p.Leu1496Met) c.4468C>A (p.Leu1490Met) n.980C>A c.282C>A c.4477C>A (p.Leu1493Met) c.4162C>A (p.Leu1388Met) c.2059C>A (p.Leu687Met) c.4501C>A (p.Leu1501Met) c.4492C>A (p.Leu1498Met) c.4483C>A (p.Leu1495Met) c.2821C>A (p.Leu941Met) | |
| X | g.108687652C>G | CA413854654 | COL4A5 | c.4486C>G (p.Leu1496Val) c.4468C>G (p.Leu1490Val) n.980C>G c.282C>G c.4477C>G (p.Leu1493Val) c.4162C>G (p.Leu1388Val) c.2059C>G (p.Leu687Val) c.4501C>G (p.Leu1501Val) c.4492C>G (p.Leu1498Val) c.4483C>G (p.Leu1495Val) c.2821C>G (p.Leu941Val) | |
| X | g.108687652C>T | CA517924654 | COL4A5 | c.4486C>T (p.Leu1496=) c.4468C>T (p.Leu1490=) n.980C>T c.282C>T c.4477C>T (p.Leu1493=) c.4162C>T (p.Leu1388=) c.2059C>T (p.Leu687=) c.4501C>T (p.Leu1501=) c.4492C>T (p.Leu1498=) c.4483C>T (p.Leu1495=) c.2821C>T (p.Leu941=) | ClinVar |
| X | g.108687653T>A | CA413854657 | COL4A5 | c.4487T>A (p.Leu1496Gln) c.4469T>A (p.Leu1490Gln) n.981T>A c.283T>A c.4478T>A (p.Leu1493Gln) c.4163T>A (p.Leu1388Gln) c.2060T>A (p.Leu687Gln) c.4502T>A (p.Leu1501Gln) c.4493T>A (p.Leu1498Gln) c.4484T>A (p.Leu1495Gln) c.2822T>A (p.Leu941Gln) | |
| X | g.108687653T>C | CA413854658 | COL4A5 | c.4487T>C (p.Leu1496Pro) c.4469T>C (p.Leu1490Pro) n.981T>C c.283T>C c.4478T>C (p.Leu1493Pro) c.4163T>C (p.Leu1388Pro) c.2060T>C (p.Leu687Pro) c.4502T>C (p.Leu1501Pro) c.4493T>C (p.Leu1498Pro) c.4484T>C (p.Leu1495Pro) c.2822T>C (p.Leu941Pro) | |
| X | g.108687653T>G | CA413854660 | COL4A5 | c.4487T>G (p.Leu1496Arg) c.4469T>G (p.Leu1490Arg) n.981T>G c.283T>G c.4478T>G (p.Leu1493Arg) c.4163T>G (p.Leu1388Arg) c.2060T>G (p.Leu687Arg) c.4502T>G (p.Leu1501Arg) c.4493T>G (p.Leu1498Arg) c.4484T>G (p.Leu1495Arg) c.2822T>G (p.Leu941Arg) | |
| X | g.108687654G>A | CA517924655 | COL4A5 | c.4488G>A (p.Leu1496=) c.4470G>A (p.Leu1490=) n.982G>A c.284G>A c.4479G>A (p.Leu1493=) c.4164G>A (p.Leu1388=) c.2061G>A (p.Leu687=) c.4503G>A (p.Leu1501=) c.4494G>A (p.Leu1498=) c.4485G>A (p.Leu1495=) c.2823G>A (p.Leu941=) | ClinVar gnomAD v4 |
| X | g.108687654G>C | CA517924657 | COL4A5 | c.4488G>C (p.Leu1496=) c.4470G>C (p.Leu1490=) n.982G>C c.284G>C c.4479G>C (p.Leu1493=) c.4164G>C (p.Leu1388=) c.2061G>C (p.Leu687=) c.4503G>C (p.Leu1501=) c.4494G>C (p.Leu1498=) c.4485G>C (p.Leu1495=) c.2823G>C (p.Leu941=) | |
| X | g.108687654G>T | CA517924658 | COL4A5 | c.4488G>T (p.Leu1496=) c.4470G>T (p.Leu1490=) n.982G>T c.284G>T c.4479G>T (p.Leu1493=) c.4164G>T (p.Leu1388=) c.2061G>T (p.Leu687=) c.4503G>T (p.Leu1501=) c.4494G>T (p.Leu1498=) c.4485G>T (p.Leu1495=) c.2823G>T (p.Leu941=) | |
| X | g.108687655T>A | CA413854663 | COL4A5 | c.4489T>A (p.Tyr1497Asn) c.4471T>A (p.Tyr1491Asn) n.983T>A c.285T>A c.4480T>A (p.Tyr1494Asn) c.4165T>A (p.Tyr1389Asn) c.2062T>A (p.Tyr688Asn) c.4504T>A (p.Tyr1502Asn) c.4495T>A (p.Tyr1499Asn) c.4486T>A (p.Tyr1496Asn) c.2824T>A (p.Tyr942Asn) | |
| X | g.108687655T>C | CA413854667 | COL4A5 | c.4489T>C (p.Tyr1497His) c.4471T>C (p.Tyr1491His) n.983T>C c.285T>C c.4480T>C (p.Tyr1494His) c.4165T>C (p.Tyr1389His) c.2062T>C (p.Tyr688His) c.4504T>C (p.Tyr1502His) c.4495T>C (p.Tyr1499His) c.4486T>C (p.Tyr1496His) c.2824T>C (p.Tyr942His) | gnomAD v4 COSMIC COSMIC |
| X | g.108687655T>G | CA413854664 | COL4A5 | c.4489T>G (p.Tyr1497Asp) c.4471T>G (p.Tyr1491Asp) n.983T>G c.285T>G c.4480T>G (p.Tyr1494Asp) c.4165T>G (p.Tyr1389Asp) c.2062T>G (p.Tyr688Asp) c.4504T>G (p.Tyr1502Asp) c.4495T>G (p.Tyr1499Asp) c.4486T>G (p.Tyr1496Asp) c.2824T>G (p.Tyr942Asp) | |
| X | g.108687656A>C | CA413854669 | COL4A5 | c.4490A>C (p.Tyr1497Ser) c.4472A>C (p.Tyr1491Ser) n.984A>C c.286A>C c.4481A>C (p.Tyr1494Ser) c.4166A>C (p.Tyr1389Ser) c.2063A>C (p.Tyr688Ser) c.4505A>C (p.Tyr1502Ser) c.4496A>C (p.Tyr1499Ser) c.4487A>C (p.Tyr1496Ser) c.2825A>C (p.Tyr942Ser) | |
| X | g.108687656A>G | CA413854671 | COL4A5 | c.4490A>G (p.Tyr1497Cys) c.4472A>G (p.Tyr1491Cys) n.984A>G c.286A>G c.4481A>G (p.Tyr1494Cys) c.4166A>G (p.Tyr1389Cys) c.2063A>G (p.Tyr688Cys) c.4505A>G (p.Tyr1502Cys) c.4496A>G (p.Tyr1499Cys) c.4487A>G (p.Tyr1496Cys) c.2825A>G (p.Tyr942Cys) | gnomAD v4 |
| X | g.108687656A>T | CA413854673 | COL4A5 | c.4490A>T (p.Tyr1497Phe) c.4472A>T (p.Tyr1491Phe) n.984A>T c.286A>T c.4481A>T (p.Tyr1494Phe) c.4166A>T (p.Tyr1389Phe) c.2063A>T (p.Tyr688Phe) c.4505A>T (p.Tyr1502Phe) c.4496A>T (p.Tyr1499Phe) c.4487A>T (p.Tyr1496Phe) c.2825A>T (p.Tyr942Phe) | |
| X | g.108687657T>A | CA413854675 | COL4A5 | c.4491T>A (p.Tyr1497Ter) c.4473T>A (p.Tyr1491Ter) n.985T>A c.287T>A c.4482T>A (p.Tyr1494Ter) c.4167T>A (p.Tyr1389Ter) c.2064T>A (p.Tyr688Ter) c.4506T>A (p.Tyr1502Ter) c.4497T>A (p.Tyr1499Ter) c.4488T>A (p.Tyr1496Ter) c.2826T>A (p.Tyr942Ter) | |
| X | g.108687657T>C | CA517924660 | COL4A5 | c.4491T>C (p.Tyr1497=) c.4473T>C (p.Tyr1491=) n.985T>C c.287T>C c.4482T>C (p.Tyr1494=) c.4167T>C (p.Tyr1389=) c.2064T>C (p.Tyr688=) c.4506T>C (p.Tyr1502=) c.4497T>C (p.Tyr1499=) c.4488T>C (p.Tyr1496=) c.2826T>C (p.Tyr942=) | ClinVar |
| X | g.108687657T>G | CA413854677 | COL4A5 | c.4491T>G (p.Tyr1497Ter) c.4473T>G (p.Tyr1491Ter) n.985T>G c.287T>G c.4482T>G (p.Tyr1494Ter) c.4167T>G (p.Tyr1389Ter) c.2064T>G (p.Tyr688Ter) c.4506T>G (p.Tyr1502Ter) c.4497T>G (p.Tyr1499Ter) c.4488T>G (p.Tyr1496Ter) c.2826T>G (p.Tyr942Ter) | |
| X | g.108687658G>A | CA413854680 | COL4A5 | c.4492G>A (p.Val1498Ile) c.4474G>A (p.Val1492Ile) n.986G>A c.288G>A c.4483G>A (p.Val1495Ile) c.4168G>A (p.Val1390Ile) c.2065G>A (p.Val689Ile) c.4507G>A (p.Val1503Ile) c.4498G>A (p.Val1500Ile) c.4489G>A (p.Val1497Ile) c.2827G>A (p.Val943Ile) | |
| X | g.108687658G>C | CA413854682 | COL4A5 | c.4492G>C (p.Val1498Leu) c.4474G>C (p.Val1492Leu) n.986G>C c.288G>C c.4483G>C (p.Val1495Leu) c.4168G>C (p.Val1390Leu) c.2065G>C (p.Val689Leu) c.4507G>C (p.Val1503Leu) c.4498G>C (p.Val1500Leu) c.4489G>C (p.Val1497Leu) c.2827G>C (p.Val943Leu) | |
| X | g.108687658G>T | CA413854684 | COL4A5 | c.4492G>T (p.Val1498Leu) c.4474G>T (p.Val1492Leu) n.986G>T c.288G>T c.4483G>T (p.Val1495Leu) c.4168G>T (p.Val1390Leu) c.2065G>T (p.Val689Leu) c.4507G>T (p.Val1503Leu) c.4498G>T (p.Val1500Leu) c.4489G>T (p.Val1497Leu) c.2827G>T (p.Val943Leu) | |
| X | g.108687659T>A | CA413854686 | COL4A5 | c.4493T>A (p.Val1498Glu) c.4475T>A (p.Val1492Glu) n.987T>A c.289T>A c.4484T>A (p.Val1495Glu) c.4169T>A (p.Val1390Glu) c.2066T>A (p.Val689Glu) c.4508T>A (p.Val1503Glu) c.4499T>A (p.Val1500Glu) c.4490T>A (p.Val1497Glu) c.2828T>A (p.Val943Glu) | |
| X | g.108687659T>C | CA413854689 | COL4A5 | c.4493T>C (p.Val1498Ala) c.4475T>C (p.Val1492Ala) n.987T>C c.289T>C c.4484T>C (p.Val1495Ala) c.4169T>C (p.Val1390Ala) c.2066T>C (p.Val689Ala) c.4508T>C (p.Val1503Ala) c.4499T>C (p.Val1500Ala) c.4490T>C (p.Val1497Ala) c.2828T>C (p.Val943Ala) | |
| X | g.108687659T>G | CA413854691 | COL4A5 | c.4493T>G (p.Val1498Gly) c.4475T>G (p.Val1492Gly) n.987T>G c.289T>G c.4484T>G (p.Val1495Gly) c.4169T>G (p.Val1390Gly) c.2066T>G (p.Val689Gly) c.4508T>G (p.Val1503Gly) c.4499T>G (p.Val1500Gly) c.4490T>G (p.Val1497Gly) c.2828T>G (p.Val943Gly) | |
| X | g.108687660A>C | CA517924666 | COL4A5 | c.4494A>C (p.Val1498=) c.4476A>C (p.Val1492=) n.988A>C c.290A>C c.4485A>C (p.Val1495=) c.4170A>C (p.Val1390=) c.2067A>C (p.Val689=) c.4509A>C (p.Val1503=) c.4500A>C (p.Val1500=) c.4491A>C (p.Val1497=) c.2829A>C (p.Val943=) | |
| X | g.108687660A>G | CA517924664 | COL4A5 | c.4494A>G (p.Val1498=) c.4476A>G (p.Val1492=) n.988A>G c.290A>G c.4485A>G (p.Val1495=) c.4170A>G (p.Val1390=) c.2067A>G (p.Val689=) c.4509A>G (p.Val1503=) c.4500A>G (p.Val1500=) c.4491A>G (p.Val1497=) c.2829A>G (p.Val943=) | |
| X | g.108687660A>T | CA517924665 | COL4A5 | c.4494A>T (p.Val1498=) c.4476A>T (p.Val1492=) n.988A>T c.290A>T c.4485A>T (p.Val1495=) c.4170A>T (p.Val1390=) c.2067A>T (p.Val689=) c.4509A>T (p.Val1503=) c.4500A>T (p.Val1500=) c.4491A>T (p.Val1497=) c.2829A>T (p.Val943=) | |
| X | g.108687661C>A | CA413854697 | COL4A5 | c.4495C>A (p.Gln1499Lys) c.4477C>A (p.Gln1493Lys) n.989C>A c.291C>A c.4486C>A (p.Gln1496Lys) c.4171C>A (p.Gln1391Lys) c.2068C>A (p.Gln690Lys) c.4510C>A (p.Gln1504Lys) c.4501C>A (p.Gln1501Lys) c.4492C>A (p.Gln1498Lys) c.2830C>A (p.Gln944Lys) | |
| X | g.108687661C>G | CA413854695 | COL4A5 | c.4495C>G (p.Gln1499Glu) c.4477C>G (p.Gln1493Glu) n.989C>G c.291C>G c.4486C>G (p.Gln1496Glu) c.4171C>G (p.Gln1391Glu) c.2068C>G (p.Gln690Glu) c.4510C>G (p.Gln1504Glu) c.4501C>G (p.Gln1501Glu) c.4492C>G (p.Gln1498Glu) c.2830C>G (p.Gln944Glu) | |
| X | g.108687661C>T | CA413854693 | COL4A5 | c.4495C>T (p.Gln1499Ter) c.4477C>T (p.Gln1493Ter) n.989C>T c.291C>T c.4486C>T (p.Gln1496Ter) c.4171C>T (p.Gln1391Ter) c.2068C>T (p.Gln690Ter) c.4510C>T (p.Gln1504Ter) c.4501C>T (p.Gln1501Ter) c.4492C>T (p.Gln1498Ter) c.2830C>T (p.Gln944Ter) | |
| X | g.108687662A= | CA2450719231 | COL4A5 | c.4496A= (p.Gln1499=) c.4478A= (p.Gln1493=) n.990A= c.292A= c.4487A= (p.Gln1496=) c.4172A= (p.Gln1391=) c.2069A= (p.Gln690=) c.4511A= (p.Gln1504=) c.4502A= (p.Gln1501=) c.4493A= (p.Gln1498=) c.2831A= (p.Gln944=) | |
| X | g.108687662A>C | CA413854699 | COL4A5 | c.4496A>C (p.Gln1499Pro) c.4478A>C (p.Gln1493Pro) n.990A>C c.292A>C c.4487A>C (p.Gln1496Pro) c.4172A>C (p.Gln1391Pro) c.2069A>C (p.Gln690Pro) c.4511A>C (p.Gln1504Pro) c.4502A>C (p.Gln1501Pro) c.4493A>C (p.Gln1498Pro) c.2831A>C (p.Gln944Pro) |