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.108680629C>A | CA2694442675 | COL4A5 | c.3943-50C>A (n.3943-50C>A) c.3925-50C>A (n.3925-50C>A) n.437-50C>A n.346-50C>A c.3934-50C>A (n.3934-50C>A) c.3619-50C>A (n.3619-50C>A) c.1516-50C>A (n.1516-50C>A) c.3958-50C>A (n.3958-50C>A) c.3949-50C>A (n.3949-50C>A) c.3940-50C>A (n.3940-50C>A) c.*365C>A (n.*365C>A) c.2278-50C>A (n.2278-50C>A) | gnomAD v4 |
| X | g.108680629C>T | CA2579677054 | COL4A5 | c.3943-50C>T (n.3943-50C>T) c.3925-50C>T (n.3925-50C>T) n.437-50C>T n.346-50C>T c.3934-50C>T (n.3934-50C>T) c.3619-50C>T (n.3619-50C>T) c.1516-50C>T (n.1516-50C>T) c.3958-50C>T (n.3958-50C>T) c.3949-50C>T (n.3949-50C>T) c.3940-50C>T (n.3940-50C>T) c.*365C>T (n.*365C>T) c.2278-50C>T (n.2278-50C>T) | |
| X | g.108680632C>A | CA2579677055 | COL4A5 | c.3943-47C>A (n.3943-47C>A) c.3925-47C>A (n.3925-47C>A) n.437-47C>A n.346-47C>A c.3934-47C>A (n.3934-47C>A) c.3619-47C>A (n.3619-47C>A) c.1516-47C>A (n.1516-47C>A) c.3958-47C>A (n.3958-47C>A) c.3949-47C>A (n.3949-47C>A) c.3940-47C>A (n.3940-47C>A) c.*368C>A (n.*368C>A) c.2278-47C>A (n.2278-47C>A) | |
| X | g.108680632C>T | CA2694442676 | COL4A5 | c.3943-47C>T (n.3943-47C>T) c.3925-47C>T (n.3925-47C>T) n.437-47C>T n.346-47C>T c.3934-47C>T (n.3934-47C>T) c.3619-47C>T (n.3619-47C>T) c.1516-47C>T (n.1516-47C>T) c.3958-47C>T (n.3958-47C>T) c.3949-47C>T (n.3949-47C>T) c.3940-47C>T (n.3940-47C>T) c.*368C>T (n.*368C>T) c.2278-47C>T (n.2278-47C>T) | gnomAD v4 |
| X | g.108680633C>A | CA2579677056 | COL4A5 | c.3943-46C>A (n.3943-46C>A) c.3925-46C>A (n.3925-46C>A) n.437-46C>A n.346-46C>A c.3934-46C>A (n.3934-46C>A) c.3619-46C>A (n.3619-46C>A) c.1516-46C>A (n.1516-46C>A) c.3958-46C>A (n.3958-46C>A) c.3949-46C>A (n.3949-46C>A) c.3940-46C>A (n.3940-46C>A) c.*369C>A (n.*369C>A) c.2278-46C>A (n.2278-46C>A) | |
| X | g.108680633C>T | CA2694442677 | COL4A5 | c.3943-46C>T (n.3943-46C>T) c.3925-46C>T (n.3925-46C>T) n.437-46C>T n.346-46C>T c.3934-46C>T (n.3934-46C>T) c.3619-46C>T (n.3619-46C>T) c.1516-46C>T (n.1516-46C>T) c.3958-46C>T (n.3958-46C>T) c.3949-46C>T (n.3949-46C>T) c.3940-46C>T (n.3940-46C>T) c.*369C>T (n.*369C>T) c.2278-46C>T (n.2278-46C>T) | gnomAD v4 |
| X | g.108680634C>A | CA2564292665 | COL4A5 | c.3943-45C>A (n.3943-45C>A) c.3925-45C>A (n.3925-45C>A) n.437-45C>A n.346-45C>A c.3934-45C>A (n.3934-45C>A) c.3619-45C>A (n.3619-45C>A) c.1516-45C>A (n.1516-45C>A) c.3958-45C>A (n.3958-45C>A) c.3949-45C>A (n.3949-45C>A) c.3940-45C>A (n.3940-45C>A) c.*370C>A (n.*370C>A) c.2278-45C>A (n.2278-45C>A) | |
| X | g.108680635C>A | CA2694442678 | COL4A5 | c.3943-44C>A (n.3943-44C>A) c.3925-44C>A (n.3925-44C>A) n.437-44C>A n.346-44C>A c.3934-44C>A (n.3934-44C>A) c.3619-44C>A (n.3619-44C>A) c.1516-44C>A (n.1516-44C>A) c.3958-44C>A (n.3958-44C>A) c.3949-44C>A (n.3949-44C>A) c.3940-44C>A (n.3940-44C>A) c.*371C>A (n.*371C>A) c.2278-44C>A (n.2278-44C>A) | gnomAD v4 |
| X | g.108680637C>A | CA2694442679 | COL4A5 | c.3943-42C>A (n.3943-42C>A) c.3925-42C>A (n.3925-42C>A) n.437-42C>A n.346-42C>A c.3934-42C>A (n.3934-42C>A) c.3619-42C>A (n.3619-42C>A) c.1516-42C>A (n.1516-42C>A) c.3958-42C>A (n.3958-42C>A) c.3949-42C>A (n.3949-42C>A) c.3940-42C>A (n.3940-42C>A) c.*373C>A (n.*373C>A) c.2278-42C>A (n.2278-42C>A) | gnomAD v4 |
| X | g.108680637C= | CA2450716811 | COL4A5 | c.3943-42C= (n.3943-42C=) c.3925-42C= (n.3925-42C=) n.437-42C= n.346-42C= c.3934-42C= (n.3934-42C=) c.3619-42C= (n.3619-42C=) c.1516-42C= (n.1516-42C=) c.3958-42C= (n.3958-42C=) c.3949-42C= (n.3949-42C=) c.3940-42C= (n.3940-42C=) c.*373C= (n.*373C=) c.2278-42C= (n.2278-42C=) | |
| X | g.108680637C>T | CA10489249 | COL4A5 | c.3943-42C>T (n.3943-42C>T) c.3925-42C>T (n.3925-42C>T) n.437-42C>T n.346-42C>T c.3934-42C>T (n.3934-42C>T) c.3619-42C>T (n.3619-42C>T) c.1516-42C>T (n.1516-42C>T) c.3958-42C>T (n.3958-42C>T) c.3949-42C>T (n.3949-42C>T) c.3940-42C>T (n.3940-42C>T) c.*373C>T (n.*373C>T) c.2278-42C>T (n.2278-42C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108680638G>A | CA2579677057 | COL4A5 | c.3943-41G>A (n.3943-41G>A) c.3925-41G>A (n.3925-41G>A) n.437-41G>A n.346-41G>A c.3934-41G>A (n.3934-41G>A) c.3619-41G>A (n.3619-41G>A) c.1516-41G>A (n.1516-41G>A) c.3958-41G>A (n.3958-41G>A) c.3949-41G>A (n.3949-41G>A) c.3940-41G>A (n.3940-41G>A) c.*374G>A (n.*374G>A) c.2278-41G>A (n.2278-41G>A) | gnomAD v4 |
| X | g.108680638G= | CA2450716812 | COL4A5 | c.3943-41G= (n.3943-41G=) c.3925-41G= (n.3925-41G=) n.437-41G= n.346-41G= c.3934-41G= (n.3934-41G=) c.3619-41G= (n.3619-41G=) c.1516-41G= (n.1516-41G=) c.3958-41G= (n.3958-41G=) c.3949-41G= (n.3949-41G=) c.3940-41G= (n.3940-41G=) c.*374G= (n.*374G=) c.2278-41G= (n.2278-41G=) | |
| X | g.108680638G>T | CA2450716813 | COL4A5 | c.3943-41G>T (n.3943-41G>T) c.3925-41G>T (n.3925-41G>T) n.437-41G>T n.346-41G>T c.3934-41G>T (n.3934-41G>T) c.3619-41G>T (n.3619-41G>T) c.1516-41G>T (n.1516-41G>T) c.3958-41G>T (n.3958-41G>T) c.3949-41G>T (n.3949-41G>T) c.3940-41G>T (n.3940-41G>T) c.*374G>T (n.*374G>T) c.2278-41G>T (n.2278-41G>T) | dbSNP gnomAD v4 |
| X | g.108680640T>C | CA2694442680 | COL4A5 | c.3943-39T>C (n.3943-39T>C) c.3925-39T>C (n.3925-39T>C) n.437-39T>C n.346-39T>C c.3934-39T>C (n.3934-39T>C) c.3619-39T>C (n.3619-39T>C) c.1516-39T>C (n.1516-39T>C) c.3958-39T>C (n.3958-39T>C) c.3949-39T>C (n.3949-39T>C) c.3940-39T>C (n.3940-39T>C) c.*376T>C (n.*376T>C) c.2278-39T>C (n.2278-39T>C) | gnomAD v4 |
| X | g.108680642C>A | CA2694442681 | COL4A5 | c.3943-37C>A (n.3943-37C>A) c.3925-37C>A (n.3925-37C>A) n.437-37C>A n.346-37C>A c.3934-37C>A (n.3934-37C>A) c.3619-37C>A (n.3619-37C>A) c.1516-37C>A (n.1516-37C>A) c.3958-37C>A (n.3958-37C>A) c.3949-37C>A (n.3949-37C>A) c.3940-37C>A (n.3940-37C>A) c.*378C>A (n.*378C>A) c.2278-37C>A (n.2278-37C>A) | gnomAD v4 |
| X | g.108680644_108680645delinsAT | CA2450716814 | COL4A5 | c.3943-35_3943-34delinsAT (n.3943-35_3943-34delinsAT) c.3925-35_3925-34delinsAT (n.3925-35_3925-34delinsAT) n.437-35_437-34delinsAT n.346-35_346-34delinsAT c.3934-35_3934-34delinsAT (n.3934-35_3934-34delinsAT) c.3619-35_3619-34delinsAT (n.3619-35_3619-34delinsAT) c.1516-35_1516-34delinsAT (n.1516-35_1516-34delinsAT) c.3958-35_3958-34delinsAT (n.3958-35_3958-34delinsAT) c.3949-35_3949-34delinsAT (n.3949-35_3949-34delinsAT) c.3940-35_3940-34delinsAT (n.3940-35_3940-34delinsAT) c.*380_*381delinsAT (n.*380_*381delinsAT) c.2278-35_2278-34delinsAT (n.2278-35_2278-34delinsAT) | |
| X | g.108680651dup | CA2694442682 | COL4A5 | c.3943-28dup (n.3943-28dup) c.3925-28dup (n.3925-28dup) n.437-28dup n.346-28dup c.3934-28dup (n.3934-28dup) c.3619-28dup (n.3619-28dup) c.1516-28dup (n.1516-28dup) c.3958-28dup (n.3958-28dup) c.3949-28dup (n.3949-28dup) c.3940-28dup (n.3940-28dup) c.2278-28dup (n.2278-28dup) | gnomAD v4 |
| X | g.108680651del | CA334054393 | COL4A5 | c.3943-28del (n.3943-28del) c.3925-28del (n.3925-28del) n.437-28del n.346-28del c.3934-28del (n.3934-28del) c.3619-28del (n.3619-28del) c.1516-28del (n.1516-28del) c.3958-28del (n.3958-28del) c.3949-28del (n.3949-28del) c.3940-28del (n.3940-28del) c.2278-28del (n.2278-28del) | dbSNP gnomAD v4 |
| X | g.108680652G>A | CA643636994 | COL4A5 | c.3943-27G>A (n.3943-27G>A) c.3925-27G>A (n.3925-27G>A) n.437-27G>A n.346-27G>A c.3934-27G>A (n.3934-27G>A) c.3619-27G>A (n.3619-27G>A) c.1516-27G>A (n.1516-27G>A) c.3958-27G>A (n.3958-27G>A) c.3949-27G>A (n.3949-27G>A) c.3940-27G>A (n.3940-27G>A) c.2278-27G>A (n.2278-27G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108680652G>C | CA2694442683 | COL4A5 | c.3943-27G>C (n.3943-27G>C) c.3925-27G>C (n.3925-27G>C) n.437-27G>C n.346-27G>C c.3934-27G>C (n.3934-27G>C) c.3619-27G>C (n.3619-27G>C) c.1516-27G>C (n.1516-27G>C) c.3958-27G>C (n.3958-27G>C) c.3949-27G>C (n.3949-27G>C) c.3940-27G>C (n.3940-27G>C) c.2278-27G>C (n.2278-27G>C) | gnomAD v4 |
| X | g.108680652G= | CA2450716815 | COL4A5 | c.3943-27G= (n.3943-27G=) c.3925-27G= (n.3925-27G=) n.437-27G= n.346-27G= c.3934-27G= (n.3934-27G=) c.3619-27G= (n.3619-27G=) c.1516-27G= (n.1516-27G=) c.3958-27G= (n.3958-27G=) c.3949-27G= (n.3949-27G=) c.3940-27G= (n.3940-27G=) c.2278-27G= (n.2278-27G=) | |
| X | g.108680653T>A | CA2694442684 | COL4A5 | c.3943-26T>A (n.3943-26T>A) c.3925-26T>A (n.3925-26T>A) n.437-26T>A n.346-26T>A c.3934-26T>A (n.3934-26T>A) c.3619-26T>A (n.3619-26T>A) c.1516-26T>A (n.1516-26T>A) c.3958-26T>A (n.3958-26T>A) c.3949-26T>A (n.3949-26T>A) c.3940-26T>A (n.3940-26T>A) c.2278-26T>A (n.2278-26T>A) | gnomAD v4 |
| X | g.108680654A= | CA2450716816 | COL4A5 | c.3943-25A= (n.3943-25A=) c.3925-25A= (n.3925-25A=) n.437-25A= n.346-25A= c.3934-25A= (n.3934-25A=) c.3619-25A= (n.3619-25A=) c.1516-25A= (n.1516-25A=) c.3958-25A= (n.3958-25A=) c.3949-25A= (n.3949-25A=) c.3940-25A= (n.3940-25A=) c.2278-25A= (n.2278-25A=) | |
| X | g.108680654A>G | CA334054399 | COL4A5 | c.3943-25A>G (n.3943-25A>G) c.3925-25A>G (n.3925-25A>G) n.437-25A>G n.346-25A>G c.3934-25A>G (n.3934-25A>G) c.3619-25A>G (n.3619-25A>G) c.1516-25A>G (n.1516-25A>G) c.3958-25A>G (n.3958-25A>G) c.3949-25A>G (n.3949-25A>G) c.3940-25A>G (n.3940-25A>G) c.2278-25A>G (n.2278-25A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108680656C>A | CA2694442686 | COL4A5 | c.3943-23C>A (n.3943-23C>A) c.3925-23C>A (n.3925-23C>A) n.437-23C>A n.346-23C>A c.3934-23C>A (n.3934-23C>A) c.3619-23C>A (n.3619-23C>A) c.1516-23C>A (n.1516-23C>A) c.3958-23C>A (n.3958-23C>A) c.3949-23C>A (n.3949-23C>A) c.3940-23C>A (n.3940-23C>A) c.2278-23C>A (n.2278-23C>A) | gnomAD v4 |
| X | g.108680656C>T | CA2694442685 | COL4A5 | c.3943-23C>T (n.3943-23C>T) c.3925-23C>T (n.3925-23C>T) n.437-23C>T n.346-23C>T c.3934-23C>T (n.3934-23C>T) c.3619-23C>T (n.3619-23C>T) c.1516-23C>T (n.1516-23C>T) c.3958-23C>T (n.3958-23C>T) c.3949-23C>T (n.3949-23C>T) c.3940-23C>T (n.3940-23C>T) c.2278-23C>T (n.2278-23C>T) | gnomAD v4 |
| X | g.108680657A>G | CA2694442687 | COL4A5 | c.3943-22A>G (n.3943-22A>G) c.3925-22A>G (n.3925-22A>G) n.437-22A>G n.346-22A>G c.3934-22A>G (n.3934-22A>G) c.3619-22A>G (n.3619-22A>G) c.1516-22A>G (n.1516-22A>G) c.3958-22A>G (n.3958-22A>G) c.3949-22A>G (n.3949-22A>G) c.3940-22A>G (n.3940-22A>G) c.2278-22A>G (n.2278-22A>G) | gnomAD v4 |
| X | g.108680660A>C | CA2694442688 | COL4A5 | c.3943-19A>C (n.3943-19A>C) c.3925-19A>C (n.3925-19A>C) n.437-19A>C n.346-19A>C c.3934-19A>C (n.3934-19A>C) c.3619-19A>C (n.3619-19A>C) c.1516-19A>C (n.1516-19A>C) c.3958-19A>C (n.3958-19A>C) c.3949-19A>C (n.3949-19A>C) c.3940-19A>C (n.3940-19A>C) c.2278-19A>C (n.2278-19A>C) | gnomAD v4 |
| X | g.108680662T>G | CA10489250 | COL4A5 | c.3943-17T>G (n.3943-17T>G) c.3925-17T>G (n.3925-17T>G) n.437-17T>G n.346-17T>G c.3934-17T>G (n.3934-17T>G) c.3619-17T>G (n.3619-17T>G) c.1516-17T>G (n.1516-17T>G) c.3958-17T>G (n.3958-17T>G) c.3949-17T>G (n.3949-17T>G) c.3940-17T>G (n.3940-17T>G) c.2278-17T>G (n.2278-17T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680662T= | CA2450716817 | COL4A5 | c.3943-17T= (n.3943-17T=) c.3925-17T= (n.3925-17T=) n.437-17T= n.346-17T= c.3934-17T= (n.3934-17T=) c.3619-17T= (n.3619-17T=) c.1516-17T= (n.1516-17T=) c.3958-17T= (n.3958-17T=) c.3949-17T= (n.3949-17T=) c.3940-17T= (n.3940-17T=) c.2278-17T= (n.2278-17T=) | |
| X | g.108680663G>T | CA2579677058 | COL4A5 | c.3943-16G>T (n.3943-16G>T) c.3925-16G>T (n.3925-16G>T) n.437-16G>T n.346-16G>T c.3934-16G>T (n.3934-16G>T) c.3619-16G>T (n.3619-16G>T) c.1516-16G>T (n.1516-16G>T) c.3958-16G>T (n.3958-16G>T) c.3949-16G>T (n.3949-16G>T) c.3940-16G>T (n.3940-16G>T) c.2278-16G>T (n.2278-16G>T) | |
| X | g.108680665T>C | CA2694442689 | COL4A5 | c.3943-14T>C (n.3943-14T>C) c.3925-14T>C (n.3925-14T>C) n.437-14T>C n.346-14T>C c.3934-14T>C (n.3934-14T>C) c.3619-14T>C (n.3619-14T>C) c.1516-14T>C (n.1516-14T>C) c.3958-14T>C (n.3958-14T>C) c.3949-14T>C (n.3949-14T>C) c.3940-14T>C (n.3940-14T>C) c.2278-14T>C (n.2278-14T>C) | ClinVar gnomAD v4 |
| X | g.108680672T>A | CA2547099412 | COL4A5 | c.3943-7T>A (n.3943-7T>A) c.3925-7T>A (n.3925-7T>A) n.437-7T>A n.346-7T>A c.3934-7T>A (n.3934-7T>A) c.3619-7T>A (n.3619-7T>A) c.1516-7T>A (n.1516-7T>A) c.3958-7T>A (n.3958-7T>A) c.3949-7T>A (n.3949-7T>A) c.3940-7T>A (n.3940-7T>A) c.2278-7T>A (n.2278-7T>A) | |
| X | g.108680673A>T | CA2546032510 | COL4A5 | c.3943-6A>T (n.3943-6A>T) c.3925-6A>T (n.3925-6A>T) n.437-6A>T n.346-6A>T c.3934-6A>T (n.3934-6A>T) c.3619-6A>T (n.3619-6A>T) c.1516-6A>T (n.1516-6A>T) c.3958-6A>T (n.3958-6A>T) c.3949-6A>T (n.3949-6A>T) c.3940-6A>T (n.3940-6A>T) c.2278-6A>T (n.2278-6A>T) | ClinVar |
| X | g.108680676C>A | CA2694442690 | COL4A5 | c.3943-3C>A (n.3943-3C>A) c.3925-3C>A (n.3925-3C>A) n.437-3C>A n.346-3C>A c.3934-3C>A (n.3934-3C>A) c.3619-3C>A (n.3619-3C>A) c.1516-3C>A (n.1516-3C>A) c.3958-3C>A (n.3958-3C>A) c.3949-3C>A (n.3949-3C>A) c.3940-3C>A (n.3940-3C>A) c.2278-3C>A (n.2278-3C>A) | gnomAD v4 |
| X | g.108680677A= | CA2450716818 | COL4A5 | c.3943-2A= (n.3943-2A=) c.3925-2A= (n.3925-2A=) n.437-2A= n.346-2A= c.3934-2A= (n.3934-2A=) c.3619-2A= (n.3619-2A=) c.1516-2A= (n.1516-2A=) c.3958-2A= (n.3958-2A=) c.3949-2A= (n.3949-2A=) c.3940-2A= (n.3940-2A=) c.2278-2A= (n.2278-2A=) | |
| X | g.108680677A>C | CA413850930 | COL4A5 | c.3943-2A>C (n.3943-2A>C) c.3925-2A>C (n.3925-2A>C) n.437-2A>C n.346-2A>C c.3934-2A>C (n.3934-2A>C) c.3619-2A>C (n.3619-2A>C) c.1516-2A>C (n.1516-2A>C) c.3958-2A>C (n.3958-2A>C) c.3949-2A>C (n.3949-2A>C) c.3940-2A>C (n.3940-2A>C) c.2278-2A>C (n.2278-2A>C) | |
| X | g.108680677A>G | CA258968 | COL4A5 | c.3943-2A>G (n.3943-2A>G) c.3925-2A>G (n.3925-2A>G) n.437-2A>G n.346-2A>G c.3934-2A>G (n.3934-2A>G) c.3619-2A>G (n.3619-2A>G) c.1516-2A>G (n.1516-2A>G) c.3958-2A>G (n.3958-2A>G) c.3949-2A>G (n.3949-2A>G) c.3940-2A>G (n.3940-2A>G) c.2278-2A>G (n.2278-2A>G) | dbSNP |
| X | g.108680677A>T | CA413850931 | COL4A5 | c.3943-2A>T (n.3943-2A>T) c.3925-2A>T (n.3925-2A>T) n.437-2A>T n.346-2A>T c.3934-2A>T (n.3934-2A>T) c.3619-2A>T (n.3619-2A>T) c.1516-2A>T (n.1516-2A>T) c.3958-2A>T (n.3958-2A>T) c.3949-2A>T (n.3949-2A>T) c.3940-2A>T (n.3940-2A>T) c.2278-2A>T (n.2278-2A>T) | |
| X | g.108680678G>A | CA258969 | COL4A5 | c.3943-1G>A (n.3943-1G>A) c.3925-1G>A (n.3925-1G>A) n.437-1G>A n.346-1G>A c.3934-1G>A (n.3934-1G>A) c.3619-1G>A (n.3619-1G>A) c.1516-1G>A (n.1516-1G>A) c.3958-1G>A (n.3958-1G>A) c.3949-1G>A (n.3949-1G>A) c.3940-1G>A (n.3940-1G>A) c.2278-1G>A (n.2278-1G>A) | ClinVar dbSNP |
| X | g.108680678G>C | CA413850932 | COL4A5 | c.3943-1G>C (n.3943-1G>C) c.3925-1G>C (n.3925-1G>C) n.437-1G>C n.346-1G>C c.3934-1G>C (n.3934-1G>C) c.3619-1G>C (n.3619-1G>C) c.1516-1G>C (n.1516-1G>C) c.3958-1G>C (n.3958-1G>C) c.3949-1G>C (n.3949-1G>C) c.3940-1G>C (n.3940-1G>C) c.2278-1G>C (n.2278-1G>C) | |
| X | g.108680678G= | CA2450716819 | COL4A5 | c.3943-1G= (n.3943-1G=) c.3925-1G= (n.3925-1G=) n.437-1G= n.346-1G= c.3934-1G= (n.3934-1G=) c.3619-1G= (n.3619-1G=) c.1516-1G= (n.1516-1G=) c.3958-1G= (n.3958-1G=) c.3949-1G= (n.3949-1G=) c.3940-1G= (n.3940-1G=) c.2278-1G= (n.2278-1G=) | |
| X | g.108680678G>T | CA413850933 | COL4A5 | c.3943-1G>T (n.3943-1G>T) c.3925-1G>T (n.3925-1G>T) n.437-1G>T n.346-1G>T c.3934-1G>T (n.3934-1G>T) c.3619-1G>T (n.3619-1G>T) c.1516-1G>T (n.1516-1G>T) c.3958-1G>T (n.3958-1G>T) c.3949-1G>T (n.3949-1G>T) c.3940-1G>T (n.3940-1G>T) c.2278-1G>T (n.2278-1G>T) | |
| X | g.108680679G>A | CA413850936 | COL4A5 | c.3943G>A (p.Gly1315Ser) c.3925G>A (p.Gly1309Ser) n.437G>A n.346G>A c.3934G>A (p.Gly1312Ser) c.3619G>A (p.Gly1207Ser) c.1516G>A (p.Gly506Ser) c.3958G>A (p.Gly1320Ser) c.3949G>A (p.Gly1317Ser) c.3940G>A (p.Gly1314Ser) c.2278G>A (p.Gly760Ser) | |
| X | g.108680679G>C | CA413850935 | COL4A5 | c.3943G>C (p.Gly1315Arg) c.3925G>C (p.Gly1309Arg) n.437G>C n.346G>C c.3934G>C (p.Gly1312Arg) c.3619G>C (p.Gly1207Arg) c.1516G>C (p.Gly506Arg) c.3958G>C (p.Gly1320Arg) c.3949G>C (p.Gly1317Arg) c.3940G>C (p.Gly1314Arg) c.2278G>C (p.Gly760Arg) | |
| X | g.108680679G>T | CA413850934 | COL4A5 | c.3943G>T (p.Gly1315Cys) c.3925G>T (p.Gly1309Cys) n.437G>T n.346G>T c.3934G>T (p.Gly1312Cys) c.3619G>T (p.Gly1207Cys) c.1516G>T (p.Gly506Cys) c.3958G>T (p.Gly1320Cys) c.3949G>T (p.Gly1317Cys) c.3940G>T (p.Gly1314Cys) c.2278G>T (p.Gly760Cys) | |
| X | g.108680680G>A | CA413850937 | COL4A5 | c.3944G>A (p.Gly1315Asp) c.3926G>A (p.Gly1309Asp) n.438G>A n.347G>A c.3935G>A (p.Gly1312Asp) c.3620G>A (p.Gly1207Asp) c.1517G>A (p.Gly506Asp) c.3959G>A (p.Gly1320Asp) c.3950G>A (p.Gly1317Asp) c.3941G>A (p.Gly1314Asp) c.2279G>A (p.Gly760Asp) | |
| X | g.108680680G>C | CA413850938 | COL4A5 | c.3944G>C (p.Gly1315Ala) c.3926G>C (p.Gly1309Ala) n.438G>C n.347G>C c.3935G>C (p.Gly1312Ala) c.3620G>C (p.Gly1207Ala) c.1517G>C (p.Gly506Ala) c.3959G>C (p.Gly1320Ala) c.3950G>C (p.Gly1317Ala) c.3941G>C (p.Gly1314Ala) c.2279G>C (p.Gly760Ala) | |
| X | g.108680680G>T | CA413850939 | COL4A5 | c.3944G>T (p.Gly1315Val) c.3926G>T (p.Gly1309Val) n.438G>T n.347G>T c.3935G>T (p.Gly1312Val) c.3620G>T (p.Gly1207Val) c.1517G>T (p.Gly506Val) c.3959G>T (p.Gly1320Val) c.3950G>T (p.Gly1317Val) c.3941G>T (p.Gly1314Val) c.2279G>T (p.Gly760Val) | ClinVar dbSNP |
| X | g.108680681T>A | CA517923575 | COL4A5 | c.3945T>A (p.Gly1315=) c.3927T>A (p.Gly1309=) n.439T>A n.348T>A c.3936T>A (p.Gly1312=) c.3621T>A (p.Gly1207=) c.1518T>A (p.Gly506=) c.3960T>A (p.Gly1320=) c.3951T>A (p.Gly1317=) c.3942T>A (p.Gly1314=) c.2280T>A (p.Gly760=) | |
| X | g.108680681T>C | CA517923576 | COL4A5 | c.3945T>C (p.Gly1315=) c.3927T>C (p.Gly1309=) n.439T>C n.348T>C c.3936T>C (p.Gly1312=) c.3621T>C (p.Gly1207=) c.1518T>C (p.Gly506=) c.3960T>C (p.Gly1320=) c.3951T>C (p.Gly1317=) c.3942T>C (p.Gly1314=) c.2280T>C (p.Gly760=) | |
| X | g.108680681T>G | CA517923577 | COL4A5 | c.3945T>G (p.Gly1315=) c.3927T>G (p.Gly1309=) n.439T>G n.348T>G c.3936T>G (p.Gly1312=) c.3621T>G (p.Gly1207=) c.1518T>G (p.Gly506=) c.3960T>G (p.Gly1320=) c.3951T>G (p.Gly1317=) c.3942T>G (p.Gly1314=) c.2280T>G (p.Gly760=) | COSMIC |
| X | g.108680682A>C | CA413850940 | COL4A5 | c.3946A>C (p.Asn1316His) c.3928A>C (p.Asn1310His) n.440A>C n.349A>C c.3937A>C (p.Asn1313His) c.3622A>C (p.Asn1208His) c.1519A>C (p.Asn507His) c.3961A>C (p.Asn1321His) c.3952A>C (p.Asn1318His) c.3943A>C (p.Asn1315His) c.2281A>C (p.Asn761His) | gnomAD v4 |
| X | g.108680682A>G | CA413850941 | COL4A5 | c.3946A>G (p.Asn1316Asp) c.3928A>G (p.Asn1310Asp) n.440A>G n.349A>G c.3937A>G (p.Asn1313Asp) c.3622A>G (p.Asn1208Asp) c.1519A>G (p.Asn507Asp) c.3961A>G (p.Asn1321Asp) c.3952A>G (p.Asn1318Asp) c.3943A>G (p.Asn1315Asp) c.2281A>G (p.Asn761Asp) | |
| X | g.108680682A>T | CA413850942 | COL4A5 | c.3946A>T (p.Asn1316Tyr) c.3928A>T (p.Asn1310Tyr) n.440A>T n.349A>T c.3937A>T (p.Asn1313Tyr) c.3622A>T (p.Asn1208Tyr) c.1519A>T (p.Asn507Tyr) c.3961A>T (p.Asn1321Tyr) c.3952A>T (p.Asn1318Tyr) c.3943A>T (p.Asn1315Tyr) c.2281A>T (p.Asn761Tyr) | |
| X | g.108680683del | CA2579677059 | COL4A5 | c.3947del (p.Asn1316IlefsTer10) c.3929del (p.Asn1310IlefsTer10) n.441del n.350del c.3938del (p.Asn1313IlefsTer10) c.3623del (p.Asn1208IlefsTer10) c.1520del (p.Asn507IlefsTer10) c.3962del (p.Asn1321IlefsTer10) c.3953del (p.Asn1318IlefsTer10) c.3944del (p.Asn1315IlefsTer10) c.2282del (p.Asn761IlefsTer10) | |
| X | g.108680683A>C | CA413850945 | COL4A5 | c.3947A>C (p.Asn1316Thr) c.3929A>C (p.Asn1310Thr) n.441A>C n.350A>C c.3938A>C (p.Asn1313Thr) c.3623A>C (p.Asn1208Thr) c.1520A>C (p.Asn507Thr) c.3962A>C (p.Asn1321Thr) c.3953A>C (p.Asn1318Thr) c.3944A>C (p.Asn1315Thr) c.2282A>C (p.Asn761Thr) | |
| X | g.108680683A>G | CA413850943 | COL4A5 | c.3947A>G (p.Asn1316Ser) c.3929A>G (p.Asn1310Ser) n.441A>G n.350A>G c.3938A>G (p.Asn1313Ser) c.3623A>G (p.Asn1208Ser) c.1520A>G (p.Asn507Ser) c.3962A>G (p.Asn1321Ser) c.3953A>G (p.Asn1318Ser) c.3944A>G (p.Asn1315Ser) c.2282A>G (p.Asn761Ser) | gnomAD v4 |
| X | g.108680683A>T | CA413850944 | COL4A5 | c.3947A>T (p.Asn1316Ile) c.3929A>T (p.Asn1310Ile) n.441A>T n.350A>T c.3938A>T (p.Asn1313Ile) c.3623A>T (p.Asn1208Ile) c.1520A>T (p.Asn507Ile) c.3962A>T (p.Asn1321Ile) c.3953A>T (p.Asn1318Ile) c.3944A>T (p.Asn1315Ile) c.2282A>T (p.Asn761Ile) | |
| X | g.108680684T>A | CA413850946 | COL4A5 | c.3948T>A (p.Asn1316Lys) c.3930T>A (p.Asn1310Lys) n.442T>A n.351T>A c.3939T>A (p.Asn1313Lys) c.3624T>A (p.Asn1208Lys) c.1521T>A (p.Asn507Lys) c.3963T>A (p.Asn1321Lys) c.3954T>A (p.Asn1318Lys) c.3945T>A (p.Asn1315Lys) c.2283T>A (p.Asn761Lys) | |
| X | g.108680684T>C | CA517923578 | COL4A5 | c.3948T>C (p.Asn1316=) c.3930T>C (p.Asn1310=) n.442T>C n.351T>C c.3939T>C (p.Asn1313=) c.3624T>C (p.Asn1208=) c.1521T>C (p.Asn507=) c.3963T>C (p.Asn1321=) c.3954T>C (p.Asn1318=) c.3945T>C (p.Asn1315=) c.2283T>C (p.Asn761=) | ClinVar |
| X | g.108680684T>G | CA10489251 | COL4A5 | c.3948T>G (p.Asn1316Lys) c.3930T>G (p.Asn1310Lys) n.442T>G n.351T>G c.3939T>G (p.Asn1313Lys) c.3624T>G (p.Asn1208Lys) c.1521T>G (p.Asn507Lys) c.3963T>G (p.Asn1321Lys) c.3954T>G (p.Asn1318Lys) c.3945T>G (p.Asn1315Lys) c.2283T>G (p.Asn761Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108680684T= | CA2450716820 | COL4A5 | c.3948T= (p.Asn1316=) c.3930T= (p.Asn1310=) n.442T= n.351T= c.3939T= (p.Asn1313=) c.3624T= (p.Asn1208=) c.1521T= (p.Asn507=) c.3963T= (p.Asn1321=) c.3954T= (p.Asn1318=) c.3945T= (p.Asn1315=) c.2283T= (p.Asn761=) | |
| X | g.108680685C>A | CA413850947 | COL4A5 | c.3949C>A (p.Pro1317Thr) c.3931C>A (p.Pro1311Thr) n.443C>A n.352C>A c.3940C>A (p.Pro1314Thr) c.3625C>A (p.Pro1209Thr) c.1522C>A (p.Pro508Thr) c.3964C>A (p.Pro1322Thr) c.3955C>A (p.Pro1319Thr) c.3946C>A (p.Pro1316Thr) c.2284C>A (p.Pro762Thr) | gnomAD v4 |
| X | g.108680685C>G | CA413850948 | COL4A5 | c.3949C>G (p.Pro1317Ala) c.3931C>G (p.Pro1311Ala) n.443C>G n.352C>G c.3940C>G (p.Pro1314Ala) c.3625C>G (p.Pro1209Ala) c.1522C>G (p.Pro508Ala) c.3964C>G (p.Pro1322Ala) c.3955C>G (p.Pro1319Ala) c.3946C>G (p.Pro1316Ala) c.2284C>G (p.Pro762Ala) | |
| X | g.108680685C>T | CA413850949 | COL4A5 | c.3949C>T (p.Pro1317Ser) c.3931C>T (p.Pro1311Ser) n.443C>T n.352C>T c.3940C>T (p.Pro1314Ser) c.3625C>T (p.Pro1209Ser) c.1522C>T (p.Pro508Ser) c.3964C>T (p.Pro1322Ser) c.3955C>T (p.Pro1319Ser) c.3946C>T (p.Pro1316Ser) c.2284C>T (p.Pro762Ser) | COSMIC COSMIC |
| X | g.108680686C>A | CA413850950 | COL4A5 | c.3950C>A (p.Pro1317His) c.3932C>A (p.Pro1311His) n.444C>A n.353C>A c.3941C>A (p.Pro1314His) c.3626C>A (p.Pro1209His) c.1523C>A (p.Pro508His) c.3965C>A (p.Pro1322His) c.3956C>A (p.Pro1319His) c.3947C>A (p.Pro1316His) c.2285C>A (p.Pro762His) | |
| X | g.108680686C= | CA2450716821 | COL4A5 | c.3950C= (p.Pro1317=) c.3932C= (p.Pro1311=) n.444C= n.353C= c.3941C= (p.Pro1314=) c.3626C= (p.Pro1209=) c.1523C= (p.Pro508=) c.3965C= (p.Pro1322=) c.3956C= (p.Pro1319=) c.3947C= (p.Pro1316=) c.2285C= (p.Pro762=) | |
| X | g.108680686C>G | CA413850952 | COL4A5 | c.3950C>G (p.Pro1317Arg) c.3932C>G (p.Pro1311Arg) n.444C>G n.353C>G c.3941C>G (p.Pro1314Arg) c.3626C>G (p.Pro1209Arg) c.1523C>G (p.Pro508Arg) c.3965C>G (p.Pro1322Arg) c.3956C>G (p.Pro1319Arg) c.3947C>G (p.Pro1316Arg) c.2285C>G (p.Pro762Arg) | dbSNP gnomAD v4 |
| X | g.108680686C>T | CA413850951 | COL4A5 | c.3950C>T (p.Pro1317Leu) c.3932C>T (p.Pro1311Leu) n.444C>T n.353C>T c.3941C>T (p.Pro1314Leu) c.3626C>T (p.Pro1209Leu) c.1523C>T (p.Pro508Leu) c.3965C>T (p.Pro1322Leu) c.3956C>T (p.Pro1319Leu) c.3947C>T (p.Pro1316Leu) c.2285C>T (p.Pro762Leu) | |
| X | g.108680687T>A | CA517923579 | COL4A5 | c.3951T>A (p.Pro1317=) c.3933T>A (p.Pro1311=) n.445T>A n.354T>A c.3942T>A (p.Pro1314=) c.3627T>A (p.Pro1209=) c.1524T>A (p.Pro508=) c.3966T>A (p.Pro1322=) c.3957T>A (p.Pro1319=) c.3948T>A (p.Pro1316=) c.2286T>A (p.Pro762=) | |
| X | g.108680687T>C | CA517923580 | COL4A5 | c.3951T>C (p.Pro1317=) c.3933T>C (p.Pro1311=) n.445T>C n.354T>C c.3942T>C (p.Pro1314=) c.3627T>C (p.Pro1209=) c.1524T>C (p.Pro508=) c.3966T>C (p.Pro1322=) c.3957T>C (p.Pro1319=) c.3948T>C (p.Pro1316=) c.2286T>C (p.Pro762=) | |
| X | g.108680687T>G | CA517923581 | COL4A5 | c.3951T>G (p.Pro1317=) c.3933T>G (p.Pro1311=) n.445T>G n.354T>G c.3942T>G (p.Pro1314=) c.3627T>G (p.Pro1209=) c.1524T>G (p.Pro508=) c.3966T>G (p.Pro1322=) c.3957T>G (p.Pro1319=) c.3948T>G (p.Pro1316=) c.2286T>G (p.Pro762=) | |
| X | g.108680688G>A | CA413850953 | COL4A5 | c.3952G>A (p.Gly1318Ser) c.3934G>A (p.Gly1312Ser) n.446G>A n.355G>A c.3943G>A (p.Gly1315Ser) c.3628G>A (p.Gly1210Ser) c.1525G>A (p.Gly509Ser) c.3967G>A (p.Gly1323Ser) c.3958G>A (p.Gly1320Ser) c.3949G>A (p.Gly1317Ser) c.2287G>A (p.Gly763Ser) | |
| X | g.108680688G>C | CA413850954 | COL4A5 | c.3952G>C (p.Gly1318Arg) c.3934G>C (p.Gly1312Arg) n.446G>C n.355G>C c.3943G>C (p.Gly1315Arg) c.3628G>C (p.Gly1210Arg) c.1525G>C (p.Gly509Arg) c.3967G>C (p.Gly1323Arg) c.3958G>C (p.Gly1320Arg) c.3949G>C (p.Gly1317Arg) c.2287G>C (p.Gly763Arg) | |
| X | g.108680688G>T | CA413850955 | COL4A5 | c.3952G>T (p.Gly1318Cys) c.3934G>T (p.Gly1312Cys) n.446G>T n.355G>T c.3943G>T (p.Gly1315Cys) c.3628G>T (p.Gly1210Cys) c.1525G>T (p.Gly509Cys) c.3967G>T (p.Gly1323Cys) c.3958G>T (p.Gly1320Cys) c.3949G>T (p.Gly1317Cys) c.2287G>T (p.Gly763Cys) | |
| X | g.108680689G>A | CA413850956 | COL4A5 | c.3953G>A (p.Gly1318Asp) c.3935G>A (p.Gly1312Asp) n.447G>A n.356G>A c.3944G>A (p.Gly1315Asp) c.3629G>A (p.Gly1210Asp) c.1526G>A (p.Gly509Asp) c.3968G>A (p.Gly1323Asp) c.3959G>A (p.Gly1320Asp) c.3950G>A (p.Gly1317Asp) c.2288G>A (p.Gly763Asp) | |
| X | g.108680689G>C | CA413850957 | COL4A5 | c.3953G>C (p.Gly1318Ala) c.3935G>C (p.Gly1312Ala) n.447G>C n.356G>C c.3944G>C (p.Gly1315Ala) c.3629G>C (p.Gly1210Ala) c.1526G>C (p.Gly509Ala) c.3968G>C (p.Gly1323Ala) c.3959G>C (p.Gly1320Ala) c.3950G>C (p.Gly1317Ala) c.2288G>C (p.Gly763Ala) | |
| X | g.108680689G>T | CA413850958 | COL4A5 | c.3953G>T (p.Gly1318Val) c.3935G>T (p.Gly1312Val) n.447G>T n.356G>T c.3944G>T (p.Gly1315Val) c.3629G>T (p.Gly1210Val) c.1526G>T (p.Gly509Val) c.3968G>T (p.Gly1323Val) c.3959G>T (p.Gly1320Val) c.3950G>T (p.Gly1317Val) c.2288G>T (p.Gly763Val) | |
| X | g.108680690C>A | CA517923582 | COL4A5 | c.3954C>A (p.Gly1318=) c.3936C>A (p.Gly1312=) n.448C>A n.357C>A c.3945C>A (p.Gly1315=) c.3630C>A (p.Gly1210=) c.1527C>A (p.Gly509=) c.3969C>A (p.Gly1323=) c.3960C>A (p.Gly1320=) c.3951C>A (p.Gly1317=) c.2289C>A (p.Gly763=) | |
| X | g.108680690C>G | CA517923583 | COL4A5 | c.3954C>G (p.Gly1318=) c.3936C>G (p.Gly1312=) n.448C>G n.357C>G c.3945C>G (p.Gly1315=) c.3630C>G (p.Gly1210=) c.1527C>G (p.Gly509=) c.3969C>G (p.Gly1323=) c.3960C>G (p.Gly1320=) c.3951C>G (p.Gly1317=) c.2289C>G (p.Gly763=) | |
| X | g.108680690C>T | CA517923584 | COL4A5 | c.3954C>T (p.Gly1318=) c.3936C>T (p.Gly1312=) n.448C>T n.357C>T c.3945C>T (p.Gly1315=) c.3630C>T (p.Gly1210=) c.1527C>T (p.Gly509=) c.3969C>T (p.Gly1323=) c.3960C>T (p.Gly1320=) c.3951C>T (p.Gly1317=) c.2289C>T (p.Gly763=) | ClinVar COSMIC COSMIC |
| X | g.108680691dup | CA2580100199 | COL4A5 | c.3955dup (p.Arg1319ProfsTer?) c.3937dup (p.Arg1313ProfsTer?) n.449dup n.358dup c.3946dup (p.Arg1316ProfsTer?) c.3631dup (p.Arg1211ProfsTer?) c.1528dup (p.Arg510ProfsTer?) c.3970dup (p.Arg1324ProfsTer?) c.3961dup (p.Arg1321ProfsTer?) c.3952dup (p.Arg1318ProfsTer?) c.2290dup (p.Arg764ProfsTer?) | ClinVar |
| X | g.108680691C>A | CA517923585 | COL4A5 | c.3955C>A (p.Arg1319=) c.3937C>A (p.Arg1313=) n.449C>A n.358C>A c.3946C>A (p.Arg1316=) c.3631C>A (p.Arg1211=) c.1528C>A (p.Arg510=) c.3970C>A (p.Arg1324=) c.3961C>A (p.Arg1321=) c.3952C>A (p.Arg1318=) c.2290C>A (p.Arg764=) | |
| X | g.108680691C= | CA2450716822 | COL4A5 | c.3955C= (p.Arg1319=) c.3937C= (p.Arg1313=) n.449C= n.358C= c.3946C= (p.Arg1316=) c.3631C= (p.Arg1211=) c.1528C= (p.Arg510=) c.3970C= (p.Arg1324=) c.3961C= (p.Arg1321=) c.3952C= (p.Arg1318=) c.2290C= (p.Arg764=) | |
| X | g.108680691C>G | CA413850959 | COL4A5 | c.3955C>G (p.Arg1319Gly) c.3937C>G (p.Arg1313Gly) n.449C>G n.358C>G c.3946C>G (p.Arg1316Gly) c.3631C>G (p.Arg1211Gly) c.1528C>G (p.Arg510Gly) c.3970C>G (p.Arg1324Gly) c.3961C>G (p.Arg1321Gly) c.3952C>G (p.Arg1318Gly) c.2290C>G (p.Arg764Gly) | gnomAD v4 |
| X | g.108680691C>T | CA334054484 | COL4A5 | c.3955C>T (p.Arg1319Trp) c.3937C>T (p.Arg1313Trp) n.449C>T n.358C>T c.3946C>T (p.Arg1316Trp) c.3631C>T (p.Arg1211Trp) c.1528C>T (p.Arg510Trp) c.3970C>T (p.Arg1324Trp) c.3961C>T (p.Arg1321Trp) c.3952C>T (p.Arg1318Trp) c.2290C>T (p.Arg764Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680692G>A | CA10489252 | COL4A5 | c.3956G>A (p.Arg1319Gln) c.3938G>A (p.Arg1313Gln) n.450G>A n.359G>A c.3947G>A (p.Arg1316Gln) c.3632G>A (p.Arg1211Gln) c.1529G>A (p.Arg510Gln) c.3971G>A (p.Arg1324Gln) c.3962G>A (p.Arg1321Gln) c.3953G>A (p.Arg1318Gln) c.2291G>A (p.Arg764Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108680692G>C | CA413850960 | COL4A5 | c.3956G>C (p.Arg1319Pro) c.3938G>C (p.Arg1313Pro) n.450G>C n.359G>C c.3947G>C (p.Arg1316Pro) c.3632G>C (p.Arg1211Pro) c.1529G>C (p.Arg510Pro) c.3971G>C (p.Arg1324Pro) c.3962G>C (p.Arg1321Pro) c.3953G>C (p.Arg1318Pro) c.2291G>C (p.Arg764Pro) | |
| X | g.108680692G= | CA2450716823 | COL4A5 | c.3956G= (p.Arg1319=) c.3938G= (p.Arg1313=) n.450G= n.359G= c.3947G= (p.Arg1316=) c.3632G= (p.Arg1211=) c.1529G= (p.Arg510=) c.3971G= (p.Arg1324=) c.3962G= (p.Arg1321=) c.3953G= (p.Arg1318=) c.2291G= (p.Arg764=) | |
| X | g.108680692G>T | CA413850961 | COL4A5 | c.3956G>T (p.Arg1319Leu) c.3938G>T (p.Arg1313Leu) n.450G>T n.359G>T c.3947G>T (p.Arg1316Leu) c.3632G>T (p.Arg1211Leu) c.1529G>T (p.Arg510Leu) c.3971G>T (p.Arg1324Leu) c.3962G>T (p.Arg1321Leu) c.3953G>T (p.Arg1318Leu) c.2291G>T (p.Arg764Leu) | |
| X | g.108680693G>A | CA517923586 | COL4A5 | c.3957G>A (p.Arg1319=) c.3939G>A (p.Arg1313=) n.451G>A n.360G>A c.3948G>A (p.Arg1316=) c.3633G>A (p.Arg1211=) c.1530G>A (p.Arg510=) c.3972G>A (p.Arg1324=) c.3963G>A (p.Arg1321=) c.3954G>A (p.Arg1318=) c.2292G>A (p.Arg764=) | |
| X | g.108680693G>C | CA517923587 | COL4A5 | c.3957G>C (p.Arg1319=) c.3939G>C (p.Arg1313=) n.451G>C n.360G>C c.3948G>C (p.Arg1316=) c.3633G>C (p.Arg1211=) c.1530G>C (p.Arg510=) c.3972G>C (p.Arg1324=) c.3963G>C (p.Arg1321=) c.3954G>C (p.Arg1318=) c.2292G>C (p.Arg764=) | |
| X | g.108680693G= | CA2450716824 | COL4A5 | c.3957G= (p.Arg1319=) c.3939G= (p.Arg1313=) n.451G= n.360G= c.3948G= (p.Arg1316=) c.3633G= (p.Arg1211=) c.1530G= (p.Arg510=) c.3972G= (p.Arg1324=) c.3963G= (p.Arg1321=) c.3954G= (p.Arg1318=) c.2292G= (p.Arg764=) | |
| X | g.108680693G>T | CA10489253 | COL4A5 | c.3957G>T (p.Arg1319=) c.3939G>T (p.Arg1313=) n.451G>T n.360G>T c.3948G>T (p.Arg1316=) c.3633G>T (p.Arg1211=) c.1530G>T (p.Arg510=) c.3972G>T (p.Arg1324=) c.3963G>T (p.Arg1321=) c.3954G>T (p.Arg1318=) c.2292G>T (p.Arg764=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680694C>A | CA413850963 | COL4A5 | c.3958C>A (p.Pro1320Thr) c.3940C>A (p.Pro1314Thr) n.452C>A n.361C>A c.3949C>A (p.Pro1317Thr) c.3634C>A (p.Pro1212Thr) c.1531C>A (p.Pro511Thr) c.3973C>A (p.Pro1325Thr) c.3964C>A (p.Pro1322Thr) c.3955C>A (p.Pro1319Thr) c.2293C>A (p.Pro765Thr) | |
| X | g.108680694C= | CA2450716825 | COL4A5 | c.3958C= (p.Pro1320=) c.3940C= (p.Pro1314=) n.452C= n.361C= c.3949C= (p.Pro1317=) c.3634C= (p.Pro1212=) c.1531C= (p.Pro511=) c.3973C= (p.Pro1325=) c.3964C= (p.Pro1322=) c.3955C= (p.Pro1319=) c.2293C= (p.Pro765=) | |
| X | g.108680694C>G | CA413850962 | COL4A5 | c.3958C>G (p.Pro1320Ala) c.3940C>G (p.Pro1314Ala) n.452C>G n.361C>G c.3949C>G (p.Pro1317Ala) c.3634C>G (p.Pro1212Ala) c.1531C>G (p.Pro511Ala) c.3973C>G (p.Pro1325Ala) c.3964C>G (p.Pro1322Ala) c.3955C>G (p.Pro1319Ala) c.2293C>G (p.Pro765Ala) | |
| X | g.108680694C>T | CA10489254 | COL4A5 | c.3958C>T (p.Pro1320Ser) c.3940C>T (p.Pro1314Ser) n.452C>T n.361C>T c.3949C>T (p.Pro1317Ser) c.3634C>T (p.Pro1212Ser) c.1531C>T (p.Pro511Ser) c.3973C>T (p.Pro1325Ser) c.3964C>T (p.Pro1322Ser) c.3955C>T (p.Pro1319Ser) c.2293C>T (p.Pro765Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108680695C>A | CA413850964 | COL4A5 | c.3959C>A (p.Pro1320Gln) c.3941C>A (p.Pro1314Gln) n.453C>A n.362C>A c.3950C>A (p.Pro1317Gln) c.3635C>A (p.Pro1212Gln) c.1532C>A (p.Pro511Gln) c.3974C>A (p.Pro1325Gln) c.3965C>A (p.Pro1322Gln) c.3956C>A (p.Pro1319Gln) c.2294C>A (p.Pro765Gln) | |
| X | g.108680695C= | CA2450716826 | COL4A5 | c.3959C= (p.Pro1320=) c.3941C= (p.Pro1314=) n.453C= n.362C= c.3950C= (p.Pro1317=) c.3635C= (p.Pro1212=) c.1532C= (p.Pro511=) c.3974C= (p.Pro1325=) c.3965C= (p.Pro1322=) c.3956C= (p.Pro1319=) c.2294C= (p.Pro765=) | |
| X | g.108680695C>G | CA413850966 | COL4A5 | c.3959C>G (p.Pro1320Arg) c.3941C>G (p.Pro1314Arg) n.453C>G n.362C>G c.3950C>G (p.Pro1317Arg) c.3635C>G (p.Pro1212Arg) c.1532C>G (p.Pro511Arg) c.3974C>G (p.Pro1325Arg) c.3965C>G (p.Pro1322Arg) c.3956C>G (p.Pro1319Arg) c.2294C>G (p.Pro765Arg) | |
| X | g.108680695C>T | CA413850965 | COL4A5 | c.3959C>T (p.Pro1320Leu) c.3941C>T (p.Pro1314Leu) n.453C>T n.362C>T c.3950C>T (p.Pro1317Leu) c.3635C>T (p.Pro1212Leu) c.1532C>T (p.Pro511Leu) c.3974C>T (p.Pro1325Leu) c.3965C>T (p.Pro1322Leu) c.3956C>T (p.Pro1319Leu) c.2294C>T (p.Pro765Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680696G>A | CA10489255 | COL4A5 | c.3960G>A (p.Pro1320=) c.3942G>A (p.Pro1314=) n.454G>A n.363G>A c.3951G>A (p.Pro1317=) c.3636G>A (p.Pro1212=) c.1533G>A (p.Pro511=) c.3975G>A (p.Pro1325=) c.3966G>A (p.Pro1322=) c.3957G>A (p.Pro1319=) c.2295G>A (p.Pro765=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680696G>C | CA517923588 | COL4A5 | c.3960G>C (p.Pro1320=) c.3942G>C (p.Pro1314=) n.454G>C n.363G>C c.3951G>C (p.Pro1317=) c.3636G>C (p.Pro1212=) c.1533G>C (p.Pro511=) c.3975G>C (p.Pro1325=) c.3966G>C (p.Pro1322=) c.3957G>C (p.Pro1319=) c.2295G>C (p.Pro765=) | |
| X | g.108680696G= | CA2450716827 | COL4A5 | c.3960G= (p.Pro1320=) c.3942G= (p.Pro1314=) n.454G= n.363G= c.3951G= (p.Pro1317=) c.3636G= (p.Pro1212=) c.1533G= (p.Pro511=) c.3975G= (p.Pro1325=) c.3966G= (p.Pro1322=) c.3957G= (p.Pro1319=) c.2295G= (p.Pro765=) | |
| X | g.108680696G>T | CA517923589 | COL4A5 | c.3960G>T (p.Pro1320=) c.3942G>T (p.Pro1314=) n.454G>T n.363G>T c.3951G>T (p.Pro1317=) c.3636G>T (p.Pro1212=) c.1533G>T (p.Pro511=) c.3975G>T (p.Pro1325=) c.3966G>T (p.Pro1322=) c.3957G>T (p.Pro1319=) c.2295G>T (p.Pro765=) | |
| X | g.108680697G>A | CA413850967 | COL4A5 | c.3961G>A (p.Gly1321Ser) c.3943G>A (p.Gly1315Ser) n.455G>A n.364G>A c.3952G>A (p.Gly1318Ser) c.3637G>A (p.Gly1213Ser) c.1534G>A (p.Gly512Ser) c.3976G>A (p.Gly1326Ser) c.3967G>A (p.Gly1323Ser) c.3958G>A (p.Gly1320Ser) c.2296G>A (p.Gly766Ser) | |
| X | g.108680697G>C | CA413850968 | COL4A5 | c.3961G>C (p.Gly1321Arg) c.3943G>C (p.Gly1315Arg) n.455G>C n.364G>C c.3952G>C (p.Gly1318Arg) c.3637G>C (p.Gly1213Arg) c.1534G>C (p.Gly512Arg) c.3976G>C (p.Gly1326Arg) c.3967G>C (p.Gly1323Arg) c.3958G>C (p.Gly1320Arg) c.2296G>C (p.Gly766Arg) | |
| X | g.108680697G>T | CA413850969 | COL4A5 | c.3961G>T (p.Gly1321Cys) c.3943G>T (p.Gly1315Cys) n.455G>T n.364G>T c.3952G>T (p.Gly1318Cys) c.3637G>T (p.Gly1213Cys) c.1534G>T (p.Gly512Cys) c.3976G>T (p.Gly1326Cys) c.3967G>T (p.Gly1323Cys) c.3958G>T (p.Gly1320Cys) c.2296G>T (p.Gly766Cys) | |
| X | g.108680698G>A | CA413850970 | COL4A5 | c.3962G>A (p.Gly1321Asp) c.3944G>A (p.Gly1315Asp) n.456G>A n.365G>A c.3953G>A (p.Gly1318Asp) c.3638G>A (p.Gly1213Asp) c.1535G>A (p.Gly512Asp) c.3977G>A (p.Gly1326Asp) c.3968G>A (p.Gly1323Asp) c.3959G>A (p.Gly1320Asp) c.2297G>A (p.Gly766Asp) | |
| X | g.108680698G>C | CA413850971 | COL4A5 | c.3962G>C (p.Gly1321Ala) c.3944G>C (p.Gly1315Ala) n.456G>C n.365G>C c.3953G>C (p.Gly1318Ala) c.3638G>C (p.Gly1213Ala) c.1535G>C (p.Gly512Ala) c.3977G>C (p.Gly1326Ala) c.3968G>C (p.Gly1323Ala) c.3959G>C (p.Gly1320Ala) c.2297G>C (p.Gly766Ala) | gnomAD v4 |
| X | g.108680698G= | CA2450716828 | COL4A5 | c.3962G= (p.Gly1321=) c.3944G= (p.Gly1315=) n.456G= n.365G= c.3953G= (p.Gly1318=) c.3638G= (p.Gly1213=) c.1535G= (p.Gly512=) c.3977G= (p.Gly1326=) c.3968G= (p.Gly1323=) c.3959G= (p.Gly1320=) c.2297G= (p.Gly766=) | |
| X | g.108680698G>T | CA413850972 | COL4A5 | c.3962G>T (p.Gly1321Val) c.3944G>T (p.Gly1315Val) n.456G>T n.365G>T c.3953G>T (p.Gly1318Val) c.3638G>T (p.Gly1213Val) c.1535G>T (p.Gly512Val) c.3977G>T (p.Gly1326Val) c.3968G>T (p.Gly1323Val) c.3959G>T (p.Gly1320Val) c.2297G>T (p.Gly766Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108680699T>A | CA517923592 | COL4A5 | c.3963T>A (p.Gly1321=) c.3945T>A (p.Gly1315=) n.457T>A n.366T>A c.3954T>A (p.Gly1318=) c.3639T>A (p.Gly1213=) c.1536T>A (p.Gly512=) c.3978T>A (p.Gly1326=) c.3969T>A (p.Gly1323=) c.3960T>A (p.Gly1320=) c.2298T>A (p.Gly766=) | |
| X | g.108680699T>C | CA517923590 | COL4A5 | c.3963T>C (p.Gly1321=) c.3945T>C (p.Gly1315=) n.457T>C n.366T>C c.3954T>C (p.Gly1318=) c.3639T>C (p.Gly1213=) c.1536T>C (p.Gly512=) c.3978T>C (p.Gly1326=) c.3969T>C (p.Gly1323=) c.3960T>C (p.Gly1320=) c.2298T>C (p.Gly766=) | |
| X | g.108680699T>G | CA517923591 | COL4A5 | c.3963T>G (p.Gly1321=) c.3945T>G (p.Gly1315=) n.457T>G n.366T>G c.3954T>G (p.Gly1318=) c.3639T>G (p.Gly1213=) c.1536T>G (p.Gly512=) c.3978T>G (p.Gly1326=) c.3969T>G (p.Gly1323=) c.3960T>G (p.Gly1320=) c.2298T>G (p.Gly766=) | |
| X | g.108680700C>A | CA413850973 | COL4A5 | c.3964C>A (p.Leu1322Ile) c.3946C>A (p.Leu1316Ile) n.458C>A n.367C>A c.3955C>A (p.Leu1319Ile) c.3640C>A (p.Leu1214Ile) c.1537C>A (p.Leu513Ile) c.3979C>A (p.Leu1327Ile) c.3970C>A (p.Leu1324Ile) c.3961C>A (p.Leu1321Ile) c.2299C>A (p.Leu767Ile) | dbSNP gnomAD v2 |
| X | g.108680700C= | CA2450716829 | COL4A5 | c.3964C= (p.Leu1322=) c.3946C= (p.Leu1316=) n.458C= n.367C= c.3955C= (p.Leu1319=) c.3640C= (p.Leu1214=) c.1537C= (p.Leu513=) c.3979C= (p.Leu1327=) c.3970C= (p.Leu1324=) c.3961C= (p.Leu1321=) c.2299C= (p.Leu767=) | |
| X | g.108680700C>G | CA10489256 | COL4A5 | c.3964C>G (p.Leu1322Val) c.3946C>G (p.Leu1316Val) n.458C>G n.367C>G c.3955C>G (p.Leu1319Val) c.3640C>G (p.Leu1214Val) c.1537C>G (p.Leu513Val) c.3979C>G (p.Leu1327Val) c.3970C>G (p.Leu1324Val) c.3961C>G (p.Leu1321Val) c.2299C>G (p.Leu767Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108680700C>T | CA413850974 | COL4A5 | c.3964C>T (p.Leu1322Phe) c.3946C>T (p.Leu1316Phe) n.458C>T n.367C>T c.3955C>T (p.Leu1319Phe) c.3640C>T (p.Leu1214Phe) c.1537C>T (p.Leu513Phe) c.3979C>T (p.Leu1327Phe) c.3970C>T (p.Leu1324Phe) c.3961C>T (p.Leu1321Phe) c.2299C>T (p.Leu767Phe) | |
| X | g.108680701T>A | CA413850977 | COL4A5 | c.3965T>A (p.Leu1322His) c.3947T>A (p.Leu1316His) n.459T>A n.368T>A c.3956T>A (p.Leu1319His) c.3641T>A (p.Leu1214His) c.1538T>A (p.Leu513His) c.3980T>A (p.Leu1327His) c.3971T>A (p.Leu1324His) c.3962T>A (p.Leu1321His) c.2300T>A (p.Leu767His) | |
| X | g.108680701T>C | CA413850976 | COL4A5 | c.3965T>C (p.Leu1322Pro) c.3947T>C (p.Leu1316Pro) n.459T>C n.368T>C c.3956T>C (p.Leu1319Pro) c.3641T>C (p.Leu1214Pro) c.1538T>C (p.Leu513Pro) c.3980T>C (p.Leu1327Pro) c.3971T>C (p.Leu1324Pro) c.3962T>C (p.Leu1321Pro) c.2300T>C (p.Leu767Pro) | |
| X | g.108680701T>G | CA413850975 | COL4A5 | c.3965T>G (p.Leu1322Arg) c.3947T>G (p.Leu1316Arg) n.459T>G n.368T>G c.3956T>G (p.Leu1319Arg) c.3641T>G (p.Leu1214Arg) c.1538T>G (p.Leu513Arg) c.3980T>G (p.Leu1327Arg) c.3971T>G (p.Leu1324Arg) c.3962T>G (p.Leu1321Arg) c.2300T>G (p.Leu767Arg) | |
| X | g.108680702C>A | CA517923593 | COL4A5 | c.3966C>A (p.Leu1322=) c.3948C>A (p.Leu1316=) n.460C>A n.369C>A c.3957C>A (p.Leu1319=) c.3642C>A (p.Leu1214=) c.1539C>A (p.Leu513=) c.3981C>A (p.Leu1327=) c.3972C>A (p.Leu1324=) c.3963C>A (p.Leu1321=) c.2301C>A (p.Leu767=) | |
| X | g.108680702C= | CA2450716830 | COL4A5 | c.3966C= (p.Leu1322=) c.3948C= (p.Leu1316=) n.460C= n.369C= c.3957C= (p.Leu1319=) c.3642C= (p.Leu1214=) c.1539C= (p.Leu513=) c.3981C= (p.Leu1327=) c.3972C= (p.Leu1324=) c.3963C= (p.Leu1321=) c.2301C= (p.Leu767=) | |
| X | g.108680702C>G | CA517923594 | COL4A5 | c.3966C>G (p.Leu1322=) c.3948C>G (p.Leu1316=) n.460C>G n.369C>G c.3957C>G (p.Leu1319=) c.3642C>G (p.Leu1214=) c.1539C>G (p.Leu513=) c.3981C>G (p.Leu1327=) c.3972C>G (p.Leu1324=) c.3963C>G (p.Leu1321=) c.2301C>G (p.Leu767=) | |
| X | g.108680702C>T | CA517923595 | COL4A5 | c.3966C>T (p.Leu1322=) c.3948C>T (p.Leu1316=) n.460C>T n.369C>T c.3957C>T (p.Leu1319=) c.3642C>T (p.Leu1214=) c.1539C>T (p.Leu513=) c.3981C>T (p.Leu1327=) c.3972C>T (p.Leu1324=) c.3963C>T (p.Leu1321=) c.2301C>T (p.Leu767=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108680703A= | CA2450716831 | COL4A5 | c.3967A= (p.Asn1323=) c.3949A= (p.Asn1317=) n.461A= n.370A= c.3958A= (p.Asn1320=) c.3643A= (p.Asn1215=) c.1540A= (p.Asn514=) c.3982A= (p.Asn1328=) c.3973A= (p.Asn1325=) c.3964A= (p.Asn1322=) c.2302A= (p.Asn768=) | |
| X | g.108680703A>C | CA413850978 | COL4A5 | c.3967A>C (p.Asn1323His) c.3949A>C (p.Asn1317His) n.461A>C n.370A>C c.3958A>C (p.Asn1320His) c.3643A>C (p.Asn1215His) c.1540A>C (p.Asn514His) c.3982A>C (p.Asn1328His) c.3973A>C (p.Asn1325His) c.3964A>C (p.Asn1322His) c.2302A>C (p.Asn768His) | gnomAD v4 |
| X | g.108680703A>G | CA413850979 | COL4A5 | c.3967A>G (p.Asn1323Asp) c.3949A>G (p.Asn1317Asp) n.461A>G n.370A>G c.3958A>G (p.Asn1320Asp) c.3643A>G (p.Asn1215Asp) c.1540A>G (p.Asn514Asp) c.3982A>G (p.Asn1328Asp) c.3973A>G (p.Asn1325Asp) c.3964A>G (p.Asn1322Asp) c.2302A>G (p.Asn768Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680703A>T | CA413850980 | COL4A5 | c.3967A>T (p.Asn1323Tyr) c.3949A>T (p.Asn1317Tyr) n.461A>T n.370A>T c.3958A>T (p.Asn1320Tyr) c.3643A>T (p.Asn1215Tyr) c.1540A>T (p.Asn514Tyr) c.3982A>T (p.Asn1328Tyr) c.3973A>T (p.Asn1325Tyr) c.3964A>T (p.Asn1322Tyr) c.2302A>T (p.Asn768Tyr) | |
| X | g.108680704A= | CA2450716832 | COL4A5 | c.3968A= (p.Asn1323=) c.3950A= (p.Asn1317=) n.462A= n.371A= c.3959A= (p.Asn1320=) c.3644A= (p.Asn1215=) c.1541A= (p.Asn514=) c.3983A= (p.Asn1328=) c.3974A= (p.Asn1325=) c.3965A= (p.Asn1322=) c.2303A= (p.Asn768=) | |
| X | g.108680704A>C | CA413850981 | COL4A5 | c.3968A>C (p.Asn1323Thr) c.3950A>C (p.Asn1317Thr) n.462A>C n.371A>C c.3959A>C (p.Asn1320Thr) c.3644A>C (p.Asn1215Thr) c.1541A>C (p.Asn514Thr) c.3983A>C (p.Asn1328Thr) c.3974A>C (p.Asn1325Thr) c.3965A>C (p.Asn1322Thr) c.2303A>C (p.Asn768Thr) | |
| X | g.108680704A>G | CA334054500 | COL4A5 | c.3968A>G (p.Asn1323Ser) c.3950A>G (p.Asn1317Ser) n.462A>G n.371A>G c.3959A>G (p.Asn1320Ser) c.3644A>G (p.Asn1215Ser) c.1541A>G (p.Asn514Ser) c.3983A>G (p.Asn1328Ser) c.3974A>G (p.Asn1325Ser) c.3965A>G (p.Asn1322Ser) c.2303A>G (p.Asn768Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680704A>T | CA413850982 | COL4A5 | c.3968A>T (p.Asn1323Ile) c.3950A>T (p.Asn1317Ile) n.462A>T n.371A>T c.3959A>T (p.Asn1320Ile) c.3644A>T (p.Asn1215Ile) c.1541A>T (p.Asn514Ile) c.3983A>T (p.Asn1328Ile) c.3974A>T (p.Asn1325Ile) c.3965A>T (p.Asn1322Ile) c.2303A>T (p.Asn768Ile) | |
| X | g.108680705T>A | CA413850983 | COL4A5 | c.3969T>A (p.Asn1323Lys) c.3951T>A (p.Asn1317Lys) n.463T>A n.372T>A c.3960T>A (p.Asn1320Lys) c.3645T>A (p.Asn1215Lys) c.1542T>A (p.Asn514Lys) c.3984T>A (p.Asn1328Lys) c.3975T>A (p.Asn1325Lys) c.3966T>A (p.Asn1322Lys) c.2304T>A (p.Asn768Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680705T>C | CA517923596 | COL4A5 | c.3969T>C (p.Asn1323=) c.3951T>C (p.Asn1317=) n.463T>C n.372T>C c.3960T>C (p.Asn1320=) c.3645T>C (p.Asn1215=) c.1542T>C (p.Asn514=) c.3984T>C (p.Asn1328=) c.3975T>C (p.Asn1325=) c.3966T>C (p.Asn1322=) c.2304T>C (p.Asn768=) | gnomAD v4 |
| X | g.108680705T>G | CA413850984 | COL4A5 | c.3969T>G (p.Asn1323Lys) c.3951T>G (p.Asn1317Lys) n.463T>G n.372T>G c.3960T>G (p.Asn1320Lys) c.3645T>G (p.Asn1215Lys) c.1542T>G (p.Asn514Lys) c.3984T>G (p.Asn1328Lys) c.3975T>G (p.Asn1325Lys) c.3966T>G (p.Asn1322Lys) c.2304T>G (p.Asn768Lys) | |
| X | g.108680705T= | CA2450716833 | COL4A5 | c.3969T= (p.Asn1323=) c.3951T= (p.Asn1317=) n.463T= n.372T= c.3960T= (p.Asn1320=) c.3645T= (p.Asn1215=) c.1542T= (p.Asn514=) c.3984T= (p.Asn1328=) c.3975T= (p.Asn1325=) c.3966T= (p.Asn1322=) c.2304T= (p.Asn768=) | |
| X | g.108680706G>A | CA413850985 | COL4A5 | c.3970G>A (p.Gly1324Arg) c.3952G>A (p.Gly1318Arg) n.464G>A n.373G>A c.3961G>A (p.Gly1321Arg) c.3646G>A (p.Gly1216Arg) c.1543G>A (p.Gly515Arg) c.3985G>A (p.Gly1329Arg) c.3976G>A (p.Gly1326Arg) c.3967G>A (p.Gly1323Arg) c.2305G>A (p.Gly769Arg) | ClinVar dbSNP |
| X | g.108680706G>C | CA413850986 | COL4A5 | c.3970G>C (p.Gly1324Arg) c.3952G>C (p.Gly1318Arg) n.464G>C n.373G>C c.3961G>C (p.Gly1321Arg) c.3646G>C (p.Gly1216Arg) c.1543G>C (p.Gly515Arg) c.3985G>C (p.Gly1329Arg) c.3976G>C (p.Gly1326Arg) c.3967G>C (p.Gly1323Arg) c.2305G>C (p.Gly769Arg) | |
| X | g.108680706G= | CA2450716834 | COL4A5 | c.3970G= (p.Gly1324=) c.3952G= (p.Gly1318=) n.464G= n.373G= c.3961G= (p.Gly1321=) c.3646G= (p.Gly1216=) c.1543G= (p.Gly515=) c.3985G= (p.Gly1329=) c.3976G= (p.Gly1326=) c.3967G= (p.Gly1323=) c.2305G= (p.Gly769=) | |
| X | g.108680706G>T | CA413850987 | COL4A5 | c.3970G>T (p.Gly1324Ter) c.3952G>T (p.Gly1318Ter) n.464G>T n.373G>T c.3961G>T (p.Gly1321Ter) c.3646G>T (p.Gly1216Ter) c.1543G>T (p.Gly515Ter) c.3985G>T (p.Gly1329Ter) c.3976G>T (p.Gly1326Ter) c.3967G>T (p.Gly1323Ter) c.2305G>T (p.Gly769Ter) | |
| X | g.108680707G>A | CA10489257 | COL4A5 | c.3971G>A (p.Gly1324Glu) c.3953G>A (p.Gly1318Glu) n.465G>A n.374G>A c.3962G>A (p.Gly1321Glu) c.3647G>A (p.Gly1216Glu) c.1544G>A (p.Gly515Glu) c.3986G>A (p.Gly1329Glu) c.3977G>A (p.Gly1326Glu) c.3968G>A (p.Gly1323Glu) c.2306G>A (p.Gly769Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108680707G>C | CA413850989 | COL4A5 | c.3971G>C (p.Gly1324Ala) c.3953G>C (p.Gly1318Ala) n.465G>C n.374G>C c.3962G>C (p.Gly1321Ala) c.3647G>C (p.Gly1216Ala) c.1544G>C (p.Gly515Ala) c.3986G>C (p.Gly1329Ala) c.3977G>C (p.Gly1326Ala) c.3968G>C (p.Gly1323Ala) c.2306G>C (p.Gly769Ala) | |
| X | g.108680707G= | CA2450716835 | COL4A5 | c.3971G= (p.Gly1324=) c.3953G= (p.Gly1318=) n.465G= n.374G= c.3962G= (p.Gly1321=) c.3647G= (p.Gly1216=) c.1544G= (p.Gly515=) c.3986G= (p.Gly1329=) c.3977G= (p.Gly1326=) c.3968G= (p.Gly1323=) c.2306G= (p.Gly769=) | |
| X | g.108680707G>T | CA413850988 | COL4A5 | c.3971G>T (p.Gly1324Val) c.3953G>T (p.Gly1318Val) n.465G>T n.374G>T c.3962G>T (p.Gly1321Val) c.3647G>T (p.Gly1216Val) c.1544G>T (p.Gly515Val) c.3986G>T (p.Gly1329Val) c.3977G>T (p.Gly1326Val) c.3968G>T (p.Gly1323Val) c.2306G>T (p.Gly769Val) | |
| X | g.108680708A>C | CA517923597 | COL4A5 | c.3972A>C (p.Gly1324=) c.3954A>C (p.Gly1318=) n.466A>C n.375A>C c.3963A>C (p.Gly1321=) c.3648A>C (p.Gly1216=) c.1545A>C (p.Gly515=) c.3987A>C (p.Gly1329=) c.3978A>C (p.Gly1326=) c.3969A>C (p.Gly1323=) c.2307A>C (p.Gly769=) | |
| X | g.108680708A>G | CA517923598 | COL4A5 | c.3972A>G (p.Gly1324=) c.3954A>G (p.Gly1318=) n.466A>G n.375A>G c.3963A>G (p.Gly1321=) c.3648A>G (p.Gly1216=) c.1545A>G (p.Gly515=) c.3987A>G (p.Gly1329=) c.3978A>G (p.Gly1326=) c.3969A>G (p.Gly1323=) c.2307A>G (p.Gly769=) | |
| X | g.108680708A>T | CA517923599 | COL4A5 | c.3972A>T (p.Gly1324=) c.3954A>T (p.Gly1318=) n.466A>T n.375A>T c.3963A>T (p.Gly1321=) c.3648A>T (p.Gly1216=) c.1545A>T (p.Gly515=) c.3987A>T (p.Gly1329=) c.3978A>T (p.Gly1326=) c.3969A>T (p.Gly1323=) c.2307A>T (p.Gly769=) | |
| X | g.108680709A>C | CA413850990 | COL4A5 | c.3973A>C (p.Met1325Leu) c.3955A>C (p.Met1319Leu) n.467A>C n.376A>C c.3964A>C (p.Met1322Leu) c.3649A>C (p.Met1217Leu) c.1546A>C (p.Met516Leu) c.3988A>C (p.Met1330Leu) c.3979A>C (p.Met1327Leu) c.3970A>C (p.Met1324Leu) c.2308A>C (p.Met770Leu) | |
| X | g.108680709A>G | CA413850991 | COL4A5 | c.3973A>G (p.Met1325Val) c.3955A>G (p.Met1319Val) n.467A>G n.376A>G c.3964A>G (p.Met1322Val) c.3649A>G (p.Met1217Val) c.1546A>G (p.Met516Val) c.3988A>G (p.Met1330Val) c.3979A>G (p.Met1327Val) c.3970A>G (p.Met1324Val) c.2308A>G (p.Met770Val) | gnomAD v3 gnomAD v4 |
| X | g.108680709A>T | CA413850992 | COL4A5 | c.3973A>T (p.Met1325Leu) c.3955A>T (p.Met1319Leu) n.467A>T n.376A>T c.3964A>T (p.Met1322Leu) c.3649A>T (p.Met1217Leu) c.1546A>T (p.Met516Leu) c.3988A>T (p.Met1330Leu) c.3979A>T (p.Met1327Leu) c.3970A>T (p.Met1324Leu) c.2308A>T (p.Met770Leu) | |
| X | g.108680710T>A | CA413850993 | COL4A5 | c.3974T>A (p.Met1325Lys) c.3956T>A (p.Met1319Lys) n.468T>A n.377T>A c.3965T>A (p.Met1322Lys) c.3650T>A (p.Met1217Lys) c.1547T>A (p.Met516Lys) c.3989T>A (p.Met1330Lys) c.3980T>A (p.Met1327Lys) c.3971T>A (p.Met1324Lys) c.2309T>A (p.Met770Lys) | |
| X | g.108680710T>C | CA413850994 | COL4A5 | c.3974T>C (p.Met1325Thr) c.3956T>C (p.Met1319Thr) n.468T>C n.377T>C c.3965T>C (p.Met1322Thr) c.3650T>C (p.Met1217Thr) c.1547T>C (p.Met516Thr) c.3989T>C (p.Met1330Thr) c.3980T>C (p.Met1327Thr) c.3971T>C (p.Met1324Thr) c.2309T>C (p.Met770Thr) | |
| X | g.108680710T>G | CA413850995 | COL4A5 | c.3974T>G (p.Met1325Arg) c.3956T>G (p.Met1319Arg) n.468T>G n.377T>G c.3965T>G (p.Met1322Arg) c.3650T>G (p.Met1217Arg) c.1547T>G (p.Met516Arg) c.3989T>G (p.Met1330Arg) c.3980T>G (p.Met1327Arg) c.3971T>G (p.Met1324Arg) c.2309T>G (p.Met770Arg) | |
| X | g.108680711G>A | CA413850996 | COL4A5 | c.3975G>A (p.Met1325Ile) c.3957G>A (p.Met1319Ile) n.469G>A n.378G>A c.3966G>A (p.Met1322Ile) c.3651G>A (p.Met1217Ile) c.1548G>A (p.Met516Ile) c.3990G>A (p.Met1330Ile) c.3981G>A (p.Met1327Ile) c.3972G>A (p.Met1324Ile) c.2310G>A (p.Met770Ile) | COSMIC COSMIC |
| X | g.108680711G>C | CA413850997 | COL4A5 | c.3975G>C (p.Met1325Ile) c.3957G>C (p.Met1319Ile) n.469G>C n.378G>C c.3966G>C (p.Met1322Ile) c.3651G>C (p.Met1217Ile) c.1548G>C (p.Met516Ile) c.3990G>C (p.Met1330Ile) c.3981G>C (p.Met1327Ile) c.3972G>C (p.Met1324Ile) c.2310G>C (p.Met770Ile) | gnomAD v4 |
| X | g.108680711G>T | CA413850998 | COL4A5 | c.3975G>T (p.Met1325Ile) c.3957G>T (p.Met1319Ile) n.469G>T n.378G>T c.3966G>T (p.Met1322Ile) c.3651G>T (p.Met1217Ile) c.1548G>T (p.Met516Ile) c.3990G>T (p.Met1330Ile) c.3981G>T (p.Met1327Ile) c.3972G>T (p.Met1324Ile) c.2310G>T (p.Met770Ile) | |
| X | g.108680711_108680712delinsGA | CA2450716836 | COL4A5 | c.3975_3976delinsGA (p.Met1325=) c.3957_3958delinsGA (p.Met1319=) n.469_470delinsGA n.378_379delinsGA c.3966_3967delinsGA (p.Met1322=) c.3651_3652delinsGA (p.Met1217=) c.1548_1549delinsGA (p.Met516=) c.3990_3991delinsGA (p.Met1330=) c.3981_3982delinsGA (p.Met1327=) c.3972_3973delinsGA (p.Met1324=) c.2310_2311delinsGA (p.Met770=) | |
| X | g.108680712A= | CA2450716837 | COL4A5 | c.3976A= (p.Lys1326=) c.3958A= (p.Lys1320=) n.470A= n.379A= c.3967A= (p.Lys1323=) c.3652A= (p.Lys1218=) c.1549A= (p.Lys517=) c.3991A= (p.Lys1331=) c.3982A= (p.Lys1328=) c.3973A= (p.Lys1325=) c.2311A= (p.Lys771=) | |
| X | g.108680712A>C | CA413850999 | COL4A5 | c.3976A>C (p.Lys1326Gln) c.3958A>C (p.Lys1320Gln) n.470A>C n.379A>C c.3967A>C (p.Lys1323Gln) c.3652A>C (p.Lys1218Gln) c.1549A>C (p.Lys517Gln) c.3991A>C (p.Lys1331Gln) c.3982A>C (p.Lys1328Gln) c.3973A>C (p.Lys1325Gln) c.2311A>C (p.Lys771Gln) | |
| X | g.108680712A>G | CA413851000 | COL4A5 | c.3976A>G (p.Lys1326Glu) c.3958A>G (p.Lys1320Glu) n.470A>G n.379A>G c.3967A>G (p.Lys1323Glu) c.3652A>G (p.Lys1218Glu) c.1549A>G (p.Lys517Glu) c.3991A>G (p.Lys1331Glu) c.3982A>G (p.Lys1328Glu) c.3973A>G (p.Lys1325Glu) c.2311A>G (p.Lys771Glu) | gnomAD v4 COSMIC COSMIC |
| X | g.108680712A>T | CA258970 | COL4A5 | c.3976A>T (p.Lys1326Ter) c.3958A>T (p.Lys1320Ter) n.470A>T n.379A>T c.3967A>T (p.Lys1323Ter) c.3652A>T (p.Lys1218Ter) c.1549A>T (p.Lys517Ter) c.3991A>T (p.Lys1331Ter) c.3982A>T (p.Lys1328Ter) c.3973A>T (p.Lys1325Ter) c.2311A>T (p.Lys771Ter) | dbSNP |
| X | g.108680714del | CA645373312 | COL4A5 | c.3978del (p.Gly1327GlufsTer14) c.3960del (p.Gly1321GlufsTer14) n.472del n.381del c.3969del (p.Gly1324GlufsTer14) c.3654del (p.Gly1219GlufsTer14) c.1551del (p.Gly518GlufsTer14) c.3993del (p.Gly1332GlufsTer14) c.3984del (p.Gly1329GlufsTer14) c.3975del (p.Gly1326GlufsTer14) c.2313del (p.Gly772GlufsTer14) | ClinVar dbSNP |
| X | g.108680713A>C | CA413851002 | COL4A5 | c.3977A>C (p.Lys1326Thr) c.3959A>C (p.Lys1320Thr) n.471A>C n.380A>C c.3968A>C (p.Lys1323Thr) c.3653A>C (p.Lys1218Thr) c.1550A>C (p.Lys517Thr) c.3992A>C (p.Lys1331Thr) c.3983A>C (p.Lys1328Thr) c.3974A>C (p.Lys1325Thr) c.2312A>C (p.Lys771Thr) | |
| X | g.108680713A>G | CA413851003 | COL4A5 | c.3977A>G (p.Lys1326Arg) c.3959A>G (p.Lys1320Arg) n.471A>G n.380A>G c.3968A>G (p.Lys1323Arg) c.3653A>G (p.Lys1218Arg) c.1550A>G (p.Lys517Arg) c.3992A>G (p.Lys1331Arg) c.3983A>G (p.Lys1328Arg) c.3974A>G (p.Lys1325Arg) c.2312A>G (p.Lys771Arg) | |
| X | g.108680713A>T | CA413851001 | COL4A5 | c.3977A>T (p.Lys1326Ile) c.3959A>T (p.Lys1320Ile) n.471A>T n.380A>T c.3968A>T (p.Lys1323Ile) c.3653A>T (p.Lys1218Ile) c.1550A>T (p.Lys517Ile) c.3992A>T (p.Lys1331Ile) c.3983A>T (p.Lys1328Ile) c.3974A>T (p.Lys1325Ile) c.2312A>T (p.Lys771Ile) | |
| X | g.108680714A>C | CA413851004 | COL4A5 | c.3978A>C (p.Lys1326Asn) c.3960A>C (p.Lys1320Asn) n.472A>C n.381A>C c.3969A>C (p.Lys1323Asn) c.3654A>C (p.Lys1218Asn) c.1551A>C (p.Lys517Asn) c.3993A>C (p.Lys1331Asn) c.3984A>C (p.Lys1328Asn) c.3975A>C (p.Lys1325Asn) c.2313A>C (p.Lys771Asn) | |
| X | g.108680714A>G | CA517923600 | COL4A5 | c.3978A>G (p.Lys1326=) c.3960A>G (p.Lys1320=) n.472A>G n.381A>G c.3969A>G (p.Lys1323=) c.3654A>G (p.Lys1218=) c.1551A>G (p.Lys517=) c.3993A>G (p.Lys1331=) c.3984A>G (p.Lys1328=) c.3975A>G (p.Lys1325=) c.2313A>G (p.Lys771=) | |
| X | g.108680714A>T | CA413851005 | COL4A5 | c.3978A>T (p.Lys1326Asn) c.3960A>T (p.Lys1320Asn) n.472A>T n.381A>T c.3969A>T (p.Lys1323Asn) c.3654A>T (p.Lys1218Asn) c.1551A>T (p.Lys517Asn) c.3993A>T (p.Lys1331Asn) c.3984A>T (p.Lys1328Asn) c.3975A>T (p.Lys1325Asn) c.2313A>T (p.Lys771Asn) | gnomAD v4 |
| X | g.108680715G>A | CA413851006 | COL4A5 | c.3979G>A (p.Gly1327Arg) c.3961G>A (p.Gly1321Arg) n.473G>A n.382G>A c.3970G>A (p.Gly1324Arg) c.3655G>A (p.Gly1219Arg) c.1552G>A (p.Gly518Arg) c.3994G>A (p.Gly1332Arg) c.3985G>A (p.Gly1329Arg) c.3976G>A (p.Gly1326Arg) c.2314G>A (p.Gly772Arg) | |
| X | g.108680715G>C | CA413851007 | COL4A5 | c.3979G>C (p.Gly1327Arg) c.3961G>C (p.Gly1321Arg) n.473G>C n.382G>C c.3970G>C (p.Gly1324Arg) c.3655G>C (p.Gly1219Arg) c.1552G>C (p.Gly518Arg) c.3994G>C (p.Gly1332Arg) c.3985G>C (p.Gly1329Arg) c.3976G>C (p.Gly1326Arg) c.2314G>C (p.Gly772Arg) | |
| X | g.108680715G>T | CA413851008 | COL4A5 | c.3979G>T (p.Gly1327Ter) c.3961G>T (p.Gly1321Ter) n.473G>T n.382G>T c.3970G>T (p.Gly1324Ter) c.3655G>T (p.Gly1219Ter) c.1552G>T (p.Gly518Ter) c.3994G>T (p.Gly1332Ter) c.3985G>T (p.Gly1329Ter) c.3976G>T (p.Gly1326Ter) c.2314G>T (p.Gly772Ter) | |
| X | g.108680716G>A | CA413851011 | COL4A5 | c.3980G>A (p.Gly1327Glu) c.3962G>A (p.Gly1321Glu) n.474G>A n.383G>A c.3971G>A (p.Gly1324Glu) c.3656G>A (p.Gly1219Glu) c.1553G>A (p.Gly518Glu) c.3995G>A (p.Gly1332Glu) c.3986G>A (p.Gly1329Glu) c.3977G>A (p.Gly1326Glu) c.2315G>A (p.Gly772Glu) | gnomAD v4 COSMIC COSMIC |
| X | g.108680716G>C | CA413851009 | COL4A5 | c.3980G>C (p.Gly1327Ala) c.3962G>C (p.Gly1321Ala) n.474G>C n.383G>C c.3971G>C (p.Gly1324Ala) c.3656G>C (p.Gly1219Ala) c.1553G>C (p.Gly518Ala) c.3995G>C (p.Gly1332Ala) c.3986G>C (p.Gly1329Ala) c.3977G>C (p.Gly1326Ala) c.2315G>C (p.Gly772Ala) | |
| X | g.108680716G>T | CA413851010 | COL4A5 | c.3980G>T (p.Gly1327Val) c.3962G>T (p.Gly1321Val) n.474G>T n.383G>T c.3971G>T (p.Gly1324Val) c.3656G>T (p.Gly1219Val) c.1553G>T (p.Gly518Val) c.3995G>T (p.Gly1332Val) c.3986G>T (p.Gly1329Val) c.3977G>T (p.Gly1326Val) c.2315G>T (p.Gly772Val) | |
| X | g.108680717A>C | CA517923601 | COL4A5 | c.3981A>C (p.Gly1327=) c.3963A>C (p.Gly1321=) n.475A>C n.384A>C c.3972A>C (p.Gly1324=) c.3657A>C (p.Gly1219=) c.1554A>C (p.Gly518=) c.3996A>C (p.Gly1332=) c.3987A>C (p.Gly1329=) c.3978A>C (p.Gly1326=) c.2316A>C (p.Gly772=) | |
| X | g.108680717A>G | CA517923602 | COL4A5 | c.3981A>G (p.Gly1327=) c.3963A>G (p.Gly1321=) n.475A>G n.384A>G c.3972A>G (p.Gly1324=) c.3657A>G (p.Gly1219=) c.1554A>G (p.Gly518=) c.3996A>G (p.Gly1332=) c.3987A>G (p.Gly1329=) c.3978A>G (p.Gly1326=) c.2316A>G (p.Gly772=) | |
| X | g.108680717A>T | CA517923603 | COL4A5 | c.3981A>T (p.Gly1327=) c.3963A>T (p.Gly1321=) n.475A>T n.384A>T c.3972A>T (p.Gly1324=) c.3657A>T (p.Gly1219=) c.1554A>T (p.Gly518=) c.3996A>T (p.Gly1332=) c.3987A>T (p.Gly1329=) c.3978A>T (p.Gly1326=) c.2316A>T (p.Gly772=) | |
| X | g.108680718G>A | CA413851012 | COL4A5 | c.3982G>A (p.Asp1328Asn) c.3964G>A (p.Asp1322Asn) n.476G>A n.385G>A c.3973G>A (p.Asp1325Asn) c.3658G>A (p.Asp1220Asn) c.1555G>A (p.Asp519Asn) c.3997G>A (p.Asp1333Asn) c.3988G>A (p.Asp1330Asn) c.3979G>A (p.Asp1327Asn) c.2317G>A (p.Asp773Asn) | |
| X | g.108680718G>C | CA413851013 | COL4A5 | c.3982G>C (p.Asp1328His) c.3964G>C (p.Asp1322His) n.476G>C n.385G>C c.3973G>C (p.Asp1325His) c.3658G>C (p.Asp1220His) c.1555G>C (p.Asp519His) c.3997G>C (p.Asp1333His) c.3988G>C (p.Asp1330His) c.3979G>C (p.Asp1327His) c.2317G>C (p.Asp773His) | |
| X | g.108680718G>T | CA413851014 | COL4A5 | c.3982G>T (p.Asp1328Tyr) c.3964G>T (p.Asp1322Tyr) n.476G>T n.385G>T c.3973G>T (p.Asp1325Tyr) c.3658G>T (p.Asp1220Tyr) c.1555G>T (p.Asp519Tyr) c.3997G>T (p.Asp1333Tyr) c.3988G>T (p.Asp1330Tyr) c.3979G>T (p.Asp1327Tyr) c.2317G>T (p.Asp773Tyr) | |
| X | g.108680719A>C | CA413851015 | COL4A5 | c.3983A>C (p.Asp1328Ala) c.3965A>C (p.Asp1322Ala) n.477A>C n.386A>C c.3974A>C (p.Asp1325Ala) c.3659A>C (p.Asp1220Ala) c.1556A>C (p.Asp519Ala) c.3998A>C (p.Asp1333Ala) c.3989A>C (p.Asp1330Ala) c.3980A>C (p.Asp1327Ala) c.2318A>C (p.Asp773Ala) | |
| X | g.108680719A>G | CA413851016 | COL4A5 | c.3983A>G (p.Asp1328Gly) c.3965A>G (p.Asp1322Gly) n.477A>G n.386A>G c.3974A>G (p.Asp1325Gly) c.3659A>G (p.Asp1220Gly) c.1556A>G (p.Asp519Gly) c.3998A>G (p.Asp1333Gly) c.3989A>G (p.Asp1330Gly) c.3980A>G (p.Asp1327Gly) c.2318A>G (p.Asp773Gly) | |
| X | g.108680719A>T | CA413851017 | COL4A5 | c.3983A>T (p.Asp1328Val) c.3965A>T (p.Asp1322Val) n.477A>T n.386A>T c.3974A>T (p.Asp1325Val) c.3659A>T (p.Asp1220Val) c.1556A>T (p.Asp519Val) c.3998A>T (p.Asp1333Val) c.3989A>T (p.Asp1330Val) c.3980A>T (p.Asp1327Val) c.2318A>T (p.Asp773Val) | |
| X | g.108680720T>A | CA413851019 | COL4A5 | c.3984T>A (p.Asp1328Glu) c.3966T>A (p.Asp1322Glu) n.478T>A n.387T>A c.3975T>A (p.Asp1325Glu) c.3660T>A (p.Asp1220Glu) c.1557T>A (p.Asp519Glu) c.3999T>A (p.Asp1333Glu) c.3990T>A (p.Asp1330Glu) c.3981T>A (p.Asp1327Glu) c.2319T>A (p.Asp773Glu) | |
| X | g.108680720T>C | CA517923604 | COL4A5 | c.3984T>C (p.Asp1328=) c.3966T>C (p.Asp1322=) n.478T>C n.387T>C c.3975T>C (p.Asp1325=) c.3660T>C (p.Asp1220=) c.1557T>C (p.Asp519=) c.3999T>C (p.Asp1333=) c.3990T>C (p.Asp1330=) c.3981T>C (p.Asp1327=) c.2319T>C (p.Asp773=) | ClinVar |
| X | g.108680720T>G | CA413851018 | COL4A5 | c.3984T>G (p.Asp1328Glu) c.3966T>G (p.Asp1322Glu) n.478T>G n.387T>G c.3975T>G (p.Asp1325Glu) c.3660T>G (p.Asp1220Glu) c.1557T>G (p.Asp519Glu) c.3999T>G (p.Asp1333Glu) c.3990T>G (p.Asp1330Glu) c.3981T>G (p.Asp1327Glu) c.2319T>G (p.Asp773Glu) | |
| X | g.108680721C>A | CA413851020 | COL4A5 | c.3985C>A (p.Pro1329Thr) c.3967C>A (p.Pro1323Thr) n.479C>A n.388C>A c.3976C>A (p.Pro1326Thr) c.3661C>A (p.Pro1221Thr) c.1558C>A (p.Pro520Thr) c.4000C>A (p.Pro1334Thr) c.3991C>A (p.Pro1331Thr) c.3982C>A (p.Pro1328Thr) c.2320C>A (p.Pro774Thr) | |
| X | g.108680721C= | CA2450716838 | COL4A5 | c.3985C= (p.Pro1329=) c.3967C= (p.Pro1323=) n.479C= n.388C= c.3976C= (p.Pro1326=) c.3661C= (p.Pro1221=) c.1558C= (p.Pro520=) c.4000C= (p.Pro1334=) c.3991C= (p.Pro1331=) c.3982C= (p.Pro1328=) c.2320C= (p.Pro774=) | |
| X | g.108680721C>G | CA413851021 | COL4A5 | c.3985C>G (p.Pro1329Ala) c.3967C>G (p.Pro1323Ala) n.479C>G n.388C>G c.3976C>G (p.Pro1326Ala) c.3661C>G (p.Pro1221Ala) c.1558C>G (p.Pro520Ala) c.4000C>G (p.Pro1334Ala) c.3991C>G (p.Pro1331Ala) c.3982C>G (p.Pro1328Ala) c.2320C>G (p.Pro774Ala) | |
| X | g.108680721C>T | CA413851022 | COL4A5 | c.3985C>T (p.Pro1329Ser) c.3967C>T (p.Pro1323Ser) n.479C>T n.388C>T c.3976C>T (p.Pro1326Ser) c.3661C>T (p.Pro1221Ser) c.1558C>T (p.Pro520Ser) c.4000C>T (p.Pro1334Ser) c.3991C>T (p.Pro1331Ser) c.3982C>T (p.Pro1328Ser) c.2320C>T (p.Pro774Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.108680722C>A | CA413851023 | COL4A5 | c.3986C>A (p.Pro1329His) c.3968C>A (p.Pro1323His) n.480C>A n.389C>A c.3977C>A (p.Pro1326His) c.3662C>A (p.Pro1221His) c.1559C>A (p.Pro520His) c.4001C>A (p.Pro1334His) c.3992C>A (p.Pro1331His) c.3983C>A (p.Pro1328His) c.2321C>A (p.Pro774His) | |
| X | g.108680722C>G | CA413851024 | COL4A5 | c.3986C>G (p.Pro1329Arg) c.3968C>G (p.Pro1323Arg) n.480C>G n.389C>G c.3977C>G (p.Pro1326Arg) c.3662C>G (p.Pro1221Arg) c.1559C>G (p.Pro520Arg) c.4001C>G (p.Pro1334Arg) c.3992C>G (p.Pro1331Arg) c.3983C>G (p.Pro1328Arg) c.2321C>G (p.Pro774Arg) | |
| X | g.108680722C>T | CA413851025 | COL4A5 | c.3986C>T (p.Pro1329Leu) c.3968C>T (p.Pro1323Leu) n.480C>T n.389C>T c.3977C>T (p.Pro1326Leu) c.3662C>T (p.Pro1221Leu) c.1559C>T (p.Pro520Leu) c.4001C>T (p.Pro1334Leu) c.3992C>T (p.Pro1331Leu) c.3983C>T (p.Pro1328Leu) c.2321C>T (p.Pro774Leu) | |
| X | g.108680723T>A | CA517923605 | COL4A5 | c.3987T>A (p.Pro1329=) c.3969T>A (p.Pro1323=) n.481T>A n.390T>A c.3978T>A (p.Pro1326=) c.3663T>A (p.Pro1221=) c.1560T>A (p.Pro520=) c.4002T>A (p.Pro1334=) c.3993T>A (p.Pro1331=) c.3984T>A (p.Pro1328=) c.2322T>A (p.Pro774=) | |
| X | g.108680723T>C | CA517923606 | COL4A5 | c.3987T>C (p.Pro1329=) c.3969T>C (p.Pro1323=) n.481T>C n.390T>C c.3978T>C (p.Pro1326=) c.3663T>C (p.Pro1221=) c.1560T>C (p.Pro520=) c.4002T>C (p.Pro1334=) c.3993T>C (p.Pro1331=) c.3984T>C (p.Pro1328=) c.2322T>C (p.Pro774=) | ClinVar gnomAD v4 |
| X | g.108680723T>G | CA517923607 | COL4A5 | c.3987T>G (p.Pro1329=) c.3969T>G (p.Pro1323=) n.481T>G n.390T>G c.3978T>G (p.Pro1326=) c.3663T>G (p.Pro1221=) c.1560T>G (p.Pro520=) c.4002T>G (p.Pro1334=) c.3993T>G (p.Pro1331=) c.3984T>G (p.Pro1328=) c.2322T>G (p.Pro774=) | |
| X | g.108680724G>A | CA413851028 | COL4A5 | c.3988G>A (p.Gly1330Ser) c.3970G>A (p.Gly1324Ser) n.482G>A n.391G>A c.3979G>A (p.Gly1327Ser) c.3664G>A (p.Gly1222Ser) c.1561G>A (p.Gly521Ser) c.4003G>A (p.Gly1335Ser) c.3994G>A (p.Gly1332Ser) c.3985G>A (p.Gly1329Ser) c.2323G>A (p.Gly775Ser) | dbSNP |
| X | g.108680724G>C | CA413851027 | COL4A5 | c.3988G>C (p.Gly1330Arg) c.3970G>C (p.Gly1324Arg) n.482G>C n.391G>C c.3979G>C (p.Gly1327Arg) c.3664G>C (p.Gly1222Arg) c.1561G>C (p.Gly521Arg) c.4003G>C (p.Gly1335Arg) c.3994G>C (p.Gly1332Arg) c.3985G>C (p.Gly1329Arg) c.2323G>C (p.Gly775Arg) | |
| X | g.108680724G= | CA2450716839 | COL4A5 | c.3988G= (p.Gly1330=) c.3970G= (p.Gly1324=) n.482G= n.391G= c.3979G= (p.Gly1327=) c.3664G= (p.Gly1222=) c.1561G= (p.Gly521=) c.4003G= (p.Gly1335=) c.3994G= (p.Gly1332=) c.3985G= (p.Gly1329=) c.2323G= (p.Gly775=) | |
| X | g.108680724G>T | CA413851026 | COL4A5 | c.3988G>T (p.Gly1330Cys) c.3970G>T (p.Gly1324Cys) n.482G>T n.391G>T c.3979G>T (p.Gly1327Cys) c.3664G>T (p.Gly1222Cys) c.1561G>T (p.Gly521Cys) c.4003G>T (p.Gly1335Cys) c.3994G>T (p.Gly1332Cys) c.3985G>T (p.Gly1329Cys) c.2323G>T (p.Gly775Cys) | |
| X | g.108680725G>A | CA413851029 | COL4A5 | c.3989G>A (p.Gly1330Asp) c.3971G>A (p.Gly1324Asp) n.483G>A n.392G>A c.3980G>A (p.Gly1327Asp) c.3665G>A (p.Gly1222Asp) c.1562G>A (p.Gly521Asp) c.4004G>A (p.Gly1335Asp) c.3995G>A (p.Gly1332Asp) c.3986G>A (p.Gly1329Asp) c.2324G>A (p.Gly775Asp) | |
| X | g.108680725G>C | CA413851030 | COL4A5 | c.3989G>C (p.Gly1330Ala) c.3971G>C (p.Gly1324Ala) n.483G>C n.392G>C c.3980G>C (p.Gly1327Ala) c.3665G>C (p.Gly1222Ala) c.1562G>C (p.Gly521Ala) c.4004G>C (p.Gly1335Ala) c.3995G>C (p.Gly1332Ala) c.3986G>C (p.Gly1329Ala) c.2324G>C (p.Gly775Ala) | ClinVar dbSNP |
| X | g.108680725G>T | CA413851031 | COL4A5 | c.3989G>T (p.Gly1330Val) c.3971G>T (p.Gly1324Val) n.483G>T n.392G>T c.3980G>T (p.Gly1327Val) c.3665G>T (p.Gly1222Val) c.1562G>T (p.Gly521Val) c.4004G>T (p.Gly1335Val) c.3995G>T (p.Gly1332Val) c.3986G>T (p.Gly1329Val) c.2324G>T (p.Gly775Val) | |
| X | g.108680726T>A | CA517923608 | COL4A5 | c.3990T>A (p.Gly1330=) c.3972T>A (p.Gly1324=) n.484T>A n.393T>A c.3981T>A (p.Gly1327=) c.3666T>A (p.Gly1222=) c.1563T>A (p.Gly521=) c.4005T>A (p.Gly1335=) c.3996T>A (p.Gly1332=) c.3987T>A (p.Gly1329=) c.2325T>A (p.Gly775=) | |
| X | g.108680726T>C | CA517923610 | COL4A5 | c.3990T>C (p.Gly1330=) c.3972T>C (p.Gly1324=) n.484T>C n.393T>C c.3981T>C (p.Gly1327=) c.3666T>C (p.Gly1222=) c.1563T>C (p.Gly521=) c.4005T>C (p.Gly1335=) c.3996T>C (p.Gly1332=) c.3987T>C (p.Gly1329=) c.2325T>C (p.Gly775=) | |
| X | g.108680726T>G | CA517923609 | COL4A5 | c.3990T>G (p.Gly1330=) c.3972T>G (p.Gly1324=) n.484T>G n.393T>G c.3981T>G (p.Gly1327=) c.3666T>G (p.Gly1222=) c.1563T>G (p.Gly521=) c.4005T>G (p.Gly1335=) c.3996T>G (p.Gly1332=) c.3987T>G (p.Gly1329=) c.2325T>G (p.Gly775=) | |
| X | g.108680727C>A | CA413851032 | COL4A5 | c.3991C>A (p.Leu1331Ile) c.3973C>A (p.Leu1325Ile) n.485C>A n.394C>A c.3982C>A (p.Leu1328Ile) c.3667C>A (p.Leu1223Ile) c.1564C>A (p.Leu522Ile) c.4006C>A (p.Leu1336Ile) c.3997C>A (p.Leu1333Ile) c.3988C>A (p.Leu1330Ile) c.2326C>A (p.Leu776Ile) | |
| X | g.108680727C= | CA2450716840 | COL4A5 | c.3991C= (p.Leu1331=) c.3973C= (p.Leu1325=) n.485C= n.394C= c.3982C= (p.Leu1328=) c.3667C= (p.Leu1223=) c.1564C= (p.Leu522=) c.4006C= (p.Leu1336=) c.3997C= (p.Leu1333=) c.3988C= (p.Leu1330=) c.2326C= (p.Leu776=) | |
| X | g.108680727C>G | CA413851033 | COL4A5 | c.3991C>G (p.Leu1331Val) c.3973C>G (p.Leu1325Val) n.485C>G n.394C>G c.3982C>G (p.Leu1328Val) c.3667C>G (p.Leu1223Val) c.1564C>G (p.Leu522Val) c.4006C>G (p.Leu1336Val) c.3997C>G (p.Leu1333Val) c.3988C>G (p.Leu1330Val) c.2326C>G (p.Leu776Val) | |
| X | g.108680727C>T | CA334054508 | COL4A5 | c.3991C>T (p.Leu1331Phe) c.3973C>T (p.Leu1325Phe) n.485C>T n.394C>T c.3982C>T (p.Leu1328Phe) c.3667C>T (p.Leu1223Phe) c.1564C>T (p.Leu522Phe) c.4006C>T (p.Leu1336Phe) c.3997C>T (p.Leu1333Phe) c.3988C>T (p.Leu1330Phe) c.2326C>T (p.Leu776Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108680728T>A | CA413851036 | COL4A5 | c.3992T>A (p.Leu1331His) c.3974T>A (p.Leu1325His) n.486T>A n.395T>A c.3983T>A (p.Leu1328His) c.3668T>A (p.Leu1223His) c.1565T>A (p.Leu522His) c.4007T>A (p.Leu1336His) c.3998T>A (p.Leu1333His) c.3989T>A (p.Leu1330His) c.2327T>A (p.Leu776His) | |
| X | g.108680728T>C | CA413851034 | COL4A5 | c.3992T>C (p.Leu1331Pro) c.3974T>C (p.Leu1325Pro) n.486T>C n.395T>C c.3983T>C (p.Leu1328Pro) c.3668T>C (p.Leu1223Pro) c.1565T>C (p.Leu522Pro) c.4007T>C (p.Leu1336Pro) c.3998T>C (p.Leu1333Pro) c.3989T>C (p.Leu1330Pro) c.2327T>C (p.Leu776Pro) | |
| X | g.108680728T>G | CA413851035 | COL4A5 | c.3992T>G (p.Leu1331Arg) c.3974T>G (p.Leu1325Arg) n.486T>G n.395T>G c.3983T>G (p.Leu1328Arg) c.3668T>G (p.Leu1223Arg) c.1565T>G (p.Leu522Arg) c.4007T>G (p.Leu1336Arg) c.3998T>G (p.Leu1333Arg) c.3989T>G (p.Leu1330Arg) c.2327T>G (p.Leu776Arg) | |
| X | g.108680729C>A | CA517923611 | COL4A5 | c.3993C>A (p.Leu1331=) c.3975C>A (p.Leu1325=) n.487C>A n.396C>A c.3984C>A (p.Leu1328=) c.3669C>A (p.Leu1223=) c.1566C>A (p.Leu522=) c.4008C>A (p.Leu1336=) c.3999C>A (p.Leu1333=) c.3990C>A (p.Leu1330=) c.2328C>A (p.Leu776=) | |
| X | g.108680729C= | CA2450716841 | COL4A5 | c.3993C= (p.Leu1331=) c.3975C= (p.Leu1325=) n.487C= n.396C= c.3984C= (p.Leu1328=) c.3669C= (p.Leu1223=) c.1566C= (p.Leu522=) c.4008C= (p.Leu1336=) c.3999C= (p.Leu1333=) c.3990C= (p.Leu1330=) c.2328C= (p.Leu776=) | |
| X | g.108680729C>G | CA517923612 | COL4A5 | c.3993C>G (p.Leu1331=) c.3975C>G (p.Leu1325=) n.487C>G n.396C>G c.3984C>G (p.Leu1328=) c.3669C>G (p.Leu1223=) c.1566C>G (p.Leu522=) c.4008C>G (p.Leu1336=) c.3999C>G (p.Leu1333=) c.3990C>G (p.Leu1330=) c.2328C>G (p.Leu776=) | |
| X | g.108680729C>T | CA10489258 | COL4A5 | c.3993C>T (p.Leu1331=) c.3975C>T (p.Leu1325=) n.487C>T n.396C>T c.3984C>T (p.Leu1328=) c.3669C>T (p.Leu1223=) c.1566C>T (p.Leu522=) c.4008C>T (p.Leu1336=) c.3999C>T (p.Leu1333=) c.3990C>T (p.Leu1330=) c.2328C>T (p.Leu776=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |