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.108687426A= | CA2450719173 | COL4A5 | c.4316-56A= (n.4316-56A=) c.4298-56A= (n.4298-56A=) n.810-56A= n.719-56A= c.112-56A= c.4307-56A= (n.4307-56A=) c.3992-56A= (n.3992-56A=) c.1889-56A= (n.1889-56A=) c.4331-56A= (n.4331-56A=) c.4322-56A= (n.4322-56A=) c.4313-56A= (n.4313-56A=) c.2651-56A= (n.2651-56A=) | |
| X | g.108687426A>G | CA644063508 | COL4A5 | c.4316-56A>G (n.4316-56A>G) c.4298-56A>G (n.4298-56A>G) n.810-56A>G n.719-56A>G c.112-56A>G c.4307-56A>G (n.4307-56A>G) c.3992-56A>G (n.3992-56A>G) c.1889-56A>G (n.1889-56A>G) c.4331-56A>G (n.4331-56A>G) c.4322-56A>G (n.4322-56A>G) c.4313-56A>G (n.4313-56A>G) c.2651-56A>G (n.2651-56A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108687428A>G | CA2694414825 | COL4A5 | c.4316-54A>G (n.4316-54A>G) c.4298-54A>G (n.4298-54A>G) n.810-54A>G n.719-54A>G c.112-54A>G c.4307-54A>G (n.4307-54A>G) c.3992-54A>G (n.3992-54A>G) c.1889-54A>G (n.1889-54A>G) c.4331-54A>G (n.4331-54A>G) c.4322-54A>G (n.4322-54A>G) c.4313-54A>G (n.4313-54A>G) c.2651-54A>G (n.2651-54A>G) | gnomAD v4 |
| X | g.108687428_108687429del | CA2694414824 | COL4A5 | c.4316-54_4316-53del (n.4316-54_4316-53del) c.4298-54_4298-53del (n.4298-54_4298-53del) n.810-54_810-53del n.719-54_719-53del c.112-54_112-53del c.4307-54_4307-53del (n.4307-54_4307-53del) c.3992-54_3992-53del (n.3992-54_3992-53del) c.1889-54_1889-53del (n.1889-54_1889-53del) c.4331-54_4331-53del (n.4331-54_4331-53del) c.4322-54_4322-53del (n.4322-54_4322-53del) c.4313-54_4313-53del (n.4313-54_4313-53del) c.2651-54_2651-53del (n.2651-54_2651-53del) | gnomAD v4 |
| X | g.108687429A= | CA2450719174 | COL4A5 | c.4316-53A= (n.4316-53A=) c.4298-53A= (n.4298-53A=) n.810-53A= n.719-53A= c.112-53A= c.4307-53A= (n.4307-53A=) c.3992-53A= (n.3992-53A=) c.1889-53A= (n.1889-53A=) c.4331-53A= (n.4331-53A=) c.4322-53A= (n.4322-53A=) c.4313-53A= (n.4313-53A=) c.2651-53A= (n.2651-53A=) | |
| X | g.108687429A>T | CA334058935 | COL4A5 | c.4316-53A>T (n.4316-53A>T) c.4298-53A>T (n.4298-53A>T) n.810-53A>T n.719-53A>T c.112-53A>T c.4307-53A>T (n.4307-53A>T) c.3992-53A>T (n.3992-53A>T) c.1889-53A>T (n.1889-53A>T) c.4331-53A>T (n.4331-53A>T) c.4322-53A>T (n.4322-53A>T) c.4313-53A>T (n.4313-53A>T) c.2651-53A>T (n.2651-53A>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108687430G>A | CA2694414826 | COL4A5 | c.4316-52G>A (n.4316-52G>A) c.4298-52G>A (n.4298-52G>A) n.810-52G>A n.719-52G>A c.112-52G>A c.4307-52G>A (n.4307-52G>A) c.3992-52G>A (n.3992-52G>A) c.1889-52G>A (n.1889-52G>A) c.4331-52G>A (n.4331-52G>A) c.4322-52G>A (n.4322-52G>A) c.4313-52G>A (n.4313-52G>A) c.2651-52G>A (n.2651-52G>A) | gnomAD v4 |
| X | g.108687430G>T | CA2694414827 | COL4A5 | c.4316-52G>T (n.4316-52G>T) c.4298-52G>T (n.4298-52G>T) n.810-52G>T n.719-52G>T c.112-52G>T c.4307-52G>T (n.4307-52G>T) c.3992-52G>T (n.3992-52G>T) c.1889-52G>T (n.1889-52G>T) c.4331-52G>T (n.4331-52G>T) c.4322-52G>T (n.4322-52G>T) c.4313-52G>T (n.4313-52G>T) c.2651-52G>T (n.2651-52G>T) | gnomAD v4 |
| X | g.108687431A>T | CA2694414828 | COL4A5 | c.4316-51A>T (n.4316-51A>T) c.4298-51A>T (n.4298-51A>T) n.810-51A>T n.719-51A>T c.112-51A>T c.4307-51A>T (n.4307-51A>T) c.3992-51A>T (n.3992-51A>T) c.1889-51A>T (n.1889-51A>T) c.4331-51A>T (n.4331-51A>T) c.4322-51A>T (n.4322-51A>T) c.4313-51A>T (n.4313-51A>T) c.2651-51A>T (n.2651-51A>T) | gnomAD v4 |
| X | g.108687432G>A | CA644063509 | COL4A5 | c.4316-50G>A (n.4316-50G>A) c.4298-50G>A (n.4298-50G>A) n.810-50G>A n.719-50G>A c.112-50G>A c.4307-50G>A (n.4307-50G>A) c.3992-50G>A (n.3992-50G>A) c.1889-50G>A (n.1889-50G>A) c.4331-50G>A (n.4331-50G>A) c.4322-50G>A (n.4322-50G>A) c.4313-50G>A (n.4313-50G>A) c.2651-50G>A (n.2651-50G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108687432G= | CA2450719175 | COL4A5 | c.4316-50G= (n.4316-50G=) c.4298-50G= (n.4298-50G=) n.810-50G= n.719-50G= c.112-50G= c.4307-50G= (n.4307-50G=) c.3992-50G= (n.3992-50G=) c.1889-50G= (n.1889-50G=) c.4331-50G= (n.4331-50G=) c.4322-50G= (n.4322-50G=) c.4313-50G= (n.4313-50G=) c.2651-50G= (n.2651-50G=) | |
| X | g.108687434G>A | CA869824669 | COL4A5 | c.4316-48G>A (n.4316-48G>A) c.4298-48G>A (n.4298-48G>A) n.810-48G>A n.719-48G>A c.112-48G>A c.4307-48G>A (n.4307-48G>A) c.3992-48G>A (n.3992-48G>A) c.1889-48G>A (n.1889-48G>A) c.4331-48G>A (n.4331-48G>A) c.4322-48G>A (n.4322-48G>A) c.4313-48G>A (n.4313-48G>A) c.2651-48G>A (n.2651-48G>A) | dbSNP |
| X | g.108687434G= | CA2450719176 | COL4A5 | c.4316-48G= (n.4316-48G=) c.4298-48G= (n.4298-48G=) n.810-48G= n.719-48G= c.112-48G= c.4307-48G= (n.4307-48G=) c.3992-48G= (n.3992-48G=) c.1889-48G= (n.1889-48G=) c.4331-48G= (n.4331-48G=) c.4322-48G= (n.4322-48G=) c.4313-48G= (n.4313-48G=) c.2651-48G= (n.2651-48G=) | |
| X | g.108687436A= | CA2450719177 | COL4A5 | c.4316-46A= (n.4316-46A=) c.4298-46A= (n.4298-46A=) n.810-46A= n.719-46A= c.112-46A= c.4307-46A= (n.4307-46A=) c.3992-46A= (n.3992-46A=) c.1889-46A= (n.1889-46A=) c.4331-46A= (n.4331-46A=) c.4322-46A= (n.4322-46A=) c.4313-46A= (n.4313-46A=) c.2651-46A= (n.2651-46A=) | |
| X | g.108687436A>G | CA644063510 | COL4A5 | c.4316-46A>G (n.4316-46A>G) c.4298-46A>G (n.4298-46A>G) n.810-46A>G n.719-46A>G c.112-46A>G c.4307-46A>G (n.4307-46A>G) c.3992-46A>G (n.3992-46A>G) c.1889-46A>G (n.1889-46A>G) c.4331-46A>G (n.4331-46A>G) c.4322-46A>G (n.4322-46A>G) c.4313-46A>G (n.4313-46A>G) c.2651-46A>G (n.2651-46A>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108687438C>A | CA2579677151 | COL4A5 | c.4316-44C>A (n.4316-44C>A) c.4298-44C>A (n.4298-44C>A) n.810-44C>A n.719-44C>A c.112-44C>A c.4307-44C>A (n.4307-44C>A) c.3992-44C>A (n.3992-44C>A) c.1889-44C>A (n.1889-44C>A) c.4331-44C>A (n.4331-44C>A) c.4322-44C>A (n.4322-44C>A) c.4313-44C>A (n.4313-44C>A) c.2651-44C>A (n.2651-44C>A) | |
| X | g.108687438C>T | CA2579677152 | COL4A5 | c.4316-44C>T (n.4316-44C>T) c.4298-44C>T (n.4298-44C>T) n.810-44C>T n.719-44C>T c.112-44C>T c.4307-44C>T (n.4307-44C>T) c.3992-44C>T (n.3992-44C>T) c.1889-44C>T (n.1889-44C>T) c.4331-44C>T (n.4331-44C>T) c.4322-44C>T (n.4322-44C>T) c.4313-44C>T (n.4313-44C>T) c.2651-44C>T (n.2651-44C>T) | |
| X | g.108687439A>C | CA2694414829 | COL4A5 | c.4316-43A>C (n.4316-43A>C) c.4298-43A>C (n.4298-43A>C) n.810-43A>C n.719-43A>C c.112-43A>C c.4307-43A>C (n.4307-43A>C) c.3992-43A>C (n.3992-43A>C) c.1889-43A>C (n.1889-43A>C) c.4331-43A>C (n.4331-43A>C) c.4322-43A>C (n.4322-43A>C) c.4313-43A>C (n.4313-43A>C) c.2651-43A>C (n.2651-43A>C) | gnomAD v4 |
| X | g.108687440G>T | CA2694414830 | COL4A5 | c.4316-42G>T (n.4316-42G>T) c.4298-42G>T (n.4298-42G>T) n.810-42G>T n.719-42G>T c.112-42G>T c.4307-42G>T (n.4307-42G>T) c.3992-42G>T (n.3992-42G>T) c.1889-42G>T (n.1889-42G>T) c.4331-42G>T (n.4331-42G>T) c.4322-42G>T (n.4322-42G>T) c.4313-42G>T (n.4313-42G>T) c.2651-42G>T (n.2651-42G>T) | gnomAD v4 |
| X | g.108687441A>G | CA2579677153 | COL4A5 | c.4316-41A>G (n.4316-41A>G) c.4298-41A>G (n.4298-41A>G) n.810-41A>G n.719-41A>G c.112-41A>G c.4307-41A>G (n.4307-41A>G) c.3992-41A>G (n.3992-41A>G) c.1889-41A>G (n.1889-41A>G) c.4331-41A>G (n.4331-41A>G) c.4322-41A>G (n.4322-41A>G) c.4313-41A>G (n.4313-41A>G) c.2651-41A>G (n.2651-41A>G) | |
| X | g.108687447_108687450del | CA2579677154 | COL4A5 | c.4316-35_4316-32del (n.4316-35_4316-32del) c.4298-35_4298-32del (n.4298-35_4298-32del) n.810-35_810-32del n.719-35_719-32del c.112-35_112-32del c.4307-35_4307-32del (n.4307-35_4307-32del) c.3992-35_3992-32del (n.3992-35_3992-32del) c.1889-35_1889-32del (n.1889-35_1889-32del) c.4331-35_4331-32del (n.4331-35_4331-32del) c.4322-35_4322-32del (n.4322-35_4322-32del) c.4313-35_4313-32del (n.4313-35_4313-32del) c.2651-35_2651-32del (n.2651-35_2651-32del) | |
| X | g.108687445T>C | CA2694414831 | COL4A5 | c.4316-37T>C (n.4316-37T>C) c.4298-37T>C (n.4298-37T>C) n.810-37T>C n.719-37T>C c.112-37T>C c.4307-37T>C (n.4307-37T>C) c.3992-37T>C (n.3992-37T>C) c.1889-37T>C (n.1889-37T>C) c.4331-37T>C (n.4331-37T>C) c.4322-37T>C (n.4322-37T>C) c.4313-37T>C (n.4313-37T>C) c.2651-37T>C (n.2651-37T>C) | gnomAD v4 |
| X | g.108687446A>G | CA2694414832 | COL4A5 | c.4316-36A>G (n.4316-36A>G) c.4298-36A>G (n.4298-36A>G) n.810-36A>G n.719-36A>G c.112-36A>G c.4307-36A>G (n.4307-36A>G) c.3992-36A>G (n.3992-36A>G) c.1889-36A>G (n.1889-36A>G) c.4331-36A>G (n.4331-36A>G) c.4322-36A>G (n.4322-36A>G) c.4313-36A>G (n.4313-36A>G) c.2651-36A>G (n.2651-36A>G) | gnomAD v4 |
| X | g.108687448T>G | CA10489340 | COL4A5 | c.4316-34T>G (n.4316-34T>G) c.4298-34T>G (n.4298-34T>G) n.810-34T>G n.719-34T>G c.112-34T>G c.4307-34T>G (n.4307-34T>G) c.3992-34T>G (n.3992-34T>G) c.1889-34T>G (n.1889-34T>G) c.4331-34T>G (n.4331-34T>G) c.4322-34T>G (n.4322-34T>G) c.4313-34T>G (n.4313-34T>G) c.2651-34T>G (n.2651-34T>G) | dbSNP ExAC gnomAD v4 |
| X | g.108687448T= | CA2450719179 | COL4A5 | c.4316-34T= (n.4316-34T=) c.4298-34T= (n.4298-34T=) n.810-34T= n.719-34T= c.112-34T= c.4307-34T= (n.4307-34T=) c.3992-34T= (n.3992-34T=) c.1889-34T= (n.1889-34T=) c.4331-34T= (n.4331-34T=) c.4322-34T= (n.4322-34T=) c.4313-34T= (n.4313-34T=) c.2651-34T= (n.2651-34T=) | |
| X | g.108687449T>C | CA2450719181 | COL4A5 | c.4316-33T>C (n.4316-33T>C) c.4298-33T>C (n.4298-33T>C) n.810-33T>C n.719-33T>C c.112-33T>C c.4307-33T>C (n.4307-33T>C) c.3992-33T>C (n.3992-33T>C) c.1889-33T>C (n.1889-33T>C) c.4331-33T>C (n.4331-33T>C) c.4322-33T>C (n.4322-33T>C) c.4313-33T>C (n.4313-33T>C) c.2651-33T>C (n.2651-33T>C) | dbSNP |
| X | g.108687449T= | CA2450719180 | COL4A5 | c.4316-33T= (n.4316-33T=) c.4298-33T= (n.4298-33T=) n.810-33T= n.719-33T= c.112-33T= c.4307-33T= (n.4307-33T=) c.3992-33T= (n.3992-33T=) c.1889-33T= (n.1889-33T=) c.4331-33T= (n.4331-33T=) c.4322-33T= (n.4322-33T=) c.4313-33T= (n.4313-33T=) c.2651-33T= (n.2651-33T=) | |
| X | g.108687450A= | CA2450719182 | COL4A5 | c.4316-32A= (n.4316-32A=) c.4298-32A= (n.4298-32A=) n.810-32A= n.719-32A= c.112-32A= c.4307-32A= (n.4307-32A=) c.3992-32A= (n.3992-32A=) c.1889-32A= (n.1889-32A=) c.4331-32A= (n.4331-32A=) c.4322-32A= (n.4322-32A=) c.4313-32A= (n.4313-32A=) c.2651-32A= (n.2651-32A=) | |
| X | g.108687450A>C | CA644063511 | COL4A5 | c.4316-32A>C (n.4316-32A>C) c.4298-32A>C (n.4298-32A>C) n.810-32A>C n.719-32A>C c.112-32A>C c.4307-32A>C (n.4307-32A>C) c.3992-32A>C (n.3992-32A>C) c.1889-32A>C (n.1889-32A>C) c.4331-32A>C (n.4331-32A>C) c.4322-32A>C (n.4322-32A>C) c.4313-32A>C (n.4313-32A>C) c.2651-32A>C (n.2651-32A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108687452_108687453delinsTC | CA2450719183 | COL4A5 | c.4316-30_4316-29delinsTC (n.4316-30_4316-29delinsTC) c.4298-30_4298-29delinsTC (n.4298-30_4298-29delinsTC) n.810-30_810-29delinsTC n.719-30_719-29delinsTC c.112-30_112-29delinsTC c.4307-30_4307-29delinsTC (n.4307-30_4307-29delinsTC) c.3992-30_3992-29delinsTC (n.3992-30_3992-29delinsTC) c.1889-30_1889-29delinsTC (n.1889-30_1889-29delinsTC) c.4331-30_4331-29delinsTC (n.4331-30_4331-29delinsTC) c.4322-30_4322-29delinsTC (n.4322-30_4322-29delinsTC) c.4313-30_4313-29delinsTC (n.4313-30_4313-29delinsTC) c.2651-30_2651-29delinsTC (n.2651-30_2651-29delinsTC) | |
| X | g.108687453del | CA2450719184 | COL4A5 | c.4316-29del (n.4316-29del) c.4298-29del (n.4298-29del) n.810-29del n.719-29del c.112-29del c.4307-29del (n.4307-29del) c.3992-29del (n.3992-29del) c.1889-29del (n.1889-29del) c.4331-29del (n.4331-29del) c.4322-29del (n.4322-29del) c.4313-29del (n.4313-29del) c.2651-29del (n.2651-29del) | dbSNP |
| X | g.108687453C>A | CA2694414833 | COL4A5 | c.4316-29C>A (n.4316-29C>A) c.4298-29C>A (n.4298-29C>A) n.810-29C>A n.719-29C>A c.112-29C>A c.4307-29C>A (n.4307-29C>A) c.3992-29C>A (n.3992-29C>A) c.1889-29C>A (n.1889-29C>A) c.4331-29C>A (n.4331-29C>A) c.4322-29C>A (n.4322-29C>A) c.4313-29C>A (n.4313-29C>A) c.2651-29C>A (n.2651-29C>A) | gnomAD v4 |
| X | g.108687453C>G | CA2694414834 | COL4A5 | c.4316-29C>G (n.4316-29C>G) c.4298-29C>G (n.4298-29C>G) n.810-29C>G n.719-29C>G c.112-29C>G c.4307-29C>G (n.4307-29C>G) c.3992-29C>G (n.3992-29C>G) c.1889-29C>G (n.1889-29C>G) c.4331-29C>G (n.4331-29C>G) c.4322-29C>G (n.4322-29C>G) c.4313-29C>G (n.4313-29C>G) c.2651-29C>G (n.2651-29C>G) | gnomAD v4 |
| X | g.108687458A>G | CA2579677155 | COL4A5 | c.4316-24A>G (n.4316-24A>G) c.4298-24A>G (n.4298-24A>G) n.810-24A>G n.719-24A>G c.112-24A>G c.4307-24A>G (n.4307-24A>G) c.3992-24A>G (n.3992-24A>G) c.1889-24A>G (n.1889-24A>G) c.4331-24A>G (n.4331-24A>G) c.4322-24A>G (n.4322-24A>G) c.4313-24A>G (n.4313-24A>G) c.2651-24A>G (n.2651-24A>G) | gnomAD v4 |
| X | g.108687460A= | CA2450719185 | COL4A5 | c.4316-22A= (n.4316-22A=) c.4298-22A= (n.4298-22A=) n.810-22A= n.719-22A= c.112-22A= c.4307-22A= (n.4307-22A=) c.3992-22A= (n.3992-22A=) c.1889-22A= (n.1889-22A=) c.4331-22A= (n.4331-22A=) c.4322-22A= (n.4322-22A=) c.4313-22A= (n.4313-22A=) c.2651-22A= (n.2651-22A=) | |
| X | g.108687460A>G | CA869824673 | COL4A5 | c.4316-22A>G (n.4316-22A>G) c.4298-22A>G (n.4298-22A>G) n.810-22A>G n.719-22A>G c.112-22A>G c.4307-22A>G (n.4307-22A>G) c.3992-22A>G (n.3992-22A>G) c.1889-22A>G (n.1889-22A>G) c.4331-22A>G (n.4331-22A>G) c.4322-22A>G (n.4322-22A>G) c.4313-22A>G (n.4313-22A>G) c.2651-22A>G (n.2651-22A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108687460A>T | CA2579677156 | COL4A5 | c.4316-22A>T (n.4316-22A>T) c.4298-22A>T (n.4298-22A>T) n.810-22A>T n.719-22A>T c.112-22A>T c.4307-22A>T (n.4307-22A>T) c.3992-22A>T (n.3992-22A>T) c.1889-22A>T (n.1889-22A>T) c.4331-22A>T (n.4331-22A>T) c.4322-22A>T (n.4322-22A>T) c.4313-22A>T (n.4313-22A>T) c.2651-22A>T (n.2651-22A>T) | gnomAD v4 |
| X | g.108687461C>A | CA2694414835 | COL4A5 | c.4316-21C>A (n.4316-21C>A) c.4298-21C>A (n.4298-21C>A) n.810-21C>A n.719-21C>A c.112-21C>A c.4307-21C>A (n.4307-21C>A) c.3992-21C>A (n.3992-21C>A) c.1889-21C>A (n.1889-21C>A) c.4331-21C>A (n.4331-21C>A) c.4322-21C>A (n.4322-21C>A) c.4313-21C>A (n.4313-21C>A) c.2651-21C>A (n.2651-21C>A) | gnomAD v4 |
| X | g.108687461C>T | CA2579677157 | COL4A5 | c.4316-21C>T (n.4316-21C>T) c.4298-21C>T (n.4298-21C>T) n.810-21C>T n.719-21C>T c.112-21C>T c.4307-21C>T (n.4307-21C>T) c.3992-21C>T (n.3992-21C>T) c.1889-21C>T (n.1889-21C>T) c.4331-21C>T (n.4331-21C>T) c.4322-21C>T (n.4322-21C>T) c.4313-21C>T (n.4313-21C>T) c.2651-21C>T (n.2651-21C>T) | |
| X | g.108687462T>A | CA1139667749 | COL4A5 | c.4316-20T>A (n.4316-20T>A) c.4298-20T>A (n.4298-20T>A) n.810-20T>A n.719-20T>A c.112-20T>A c.4307-20T>A (n.4307-20T>A) c.3992-20T>A (n.3992-20T>A) c.1889-20T>A (n.1889-20T>A) c.4331-20T>A (n.4331-20T>A) c.4322-20T>A (n.4322-20T>A) c.4313-20T>A (n.4313-20T>A) c.2651-20T>A (n.2651-20T>A) | ClinVar dbSNP |
| X | g.108687462T>C | CA2579677158 | COL4A5 | c.4316-20T>C (n.4316-20T>C) c.4298-20T>C (n.4298-20T>C) n.810-20T>C n.719-20T>C c.112-20T>C c.4307-20T>C (n.4307-20T>C) c.3992-20T>C (n.3992-20T>C) c.1889-20T>C (n.1889-20T>C) c.4331-20T>C (n.4331-20T>C) c.4322-20T>C (n.4322-20T>C) c.4313-20T>C (n.4313-20T>C) c.2651-20T>C (n.2651-20T>C) | |
| X | g.108687462T>G | CA2694414836 | COL4A5 | c.4316-20T>G (n.4316-20T>G) c.4298-20T>G (n.4298-20T>G) n.810-20T>G n.719-20T>G c.112-20T>G c.4307-20T>G (n.4307-20T>G) c.3992-20T>G (n.3992-20T>G) c.1889-20T>G (n.1889-20T>G) c.4331-20T>G (n.4331-20T>G) c.4322-20T>G (n.4322-20T>G) c.4313-20T>G (n.4313-20T>G) c.2651-20T>G (n.2651-20T>G) | gnomAD v4 |
| X | g.108687462T= | CA2450719188 | COL4A5 | c.4316-20T= (n.4316-20T=) c.4298-20T= (n.4298-20T=) n.810-20T= n.719-20T= c.112-20T= c.4307-20T= (n.4307-20T=) c.3992-20T= (n.3992-20T=) c.1889-20T= (n.1889-20T=) c.4331-20T= (n.4331-20T=) c.4322-20T= (n.4322-20T=) c.4313-20T= (n.4313-20T=) c.2651-20T= (n.2651-20T=) | |
| X | g.108687463G>T | CA2694414837 | COL4A5 | c.4316-19G>T (n.4316-19G>T) c.4298-19G>T (n.4298-19G>T) n.810-19G>T n.719-19G>T c.112-19G>T c.4307-19G>T (n.4307-19G>T) c.3992-19G>T (n.3992-19G>T) c.1889-19G>T (n.1889-19G>T) c.4331-19G>T (n.4331-19G>T) c.4322-19G>T (n.4322-19G>T) c.4313-19G>T (n.4313-19G>T) c.2651-19G>T (n.2651-19G>T) | gnomAD v4 |
| X | g.108687466T>C | CA2694414838 | COL4A5 | c.4316-16T>C (n.4316-16T>C) c.4298-16T>C (n.4298-16T>C) n.810-16T>C n.719-16T>C c.112-16T>C c.4307-16T>C (n.4307-16T>C) c.3992-16T>C (n.3992-16T>C) c.1889-16T>C (n.1889-16T>C) c.4331-16T>C (n.4331-16T>C) c.4322-16T>C (n.4322-16T>C) c.4313-16T>C (n.4313-16T>C) c.2651-16T>C (n.2651-16T>C) | gnomAD v4 |
| X | g.108687467A= | CA2450719189 | COL4A5 | c.4316-15A= (n.4316-15A=) c.4298-15A= (n.4298-15A=) n.810-15A= n.719-15A= c.112-15A= c.4307-15A= (n.4307-15A=) c.3992-15A= (n.3992-15A=) c.1889-15A= (n.1889-15A=) c.4331-15A= (n.4331-15A=) c.4322-15A= (n.4322-15A=) c.4313-15A= (n.4313-15A=) c.2651-15A= (n.2651-15A=) | |
| X | g.108687467A>T | CA644063512 | COL4A5 | c.4316-15A>T (n.4316-15A>T) c.4298-15A>T (n.4298-15A>T) n.810-15A>T n.719-15A>T c.112-15A>T c.4307-15A>T (n.4307-15A>T) c.3992-15A>T (n.3992-15A>T) c.1889-15A>T (n.1889-15A>T) c.4331-15A>T (n.4331-15A>T) c.4322-15A>T (n.4322-15A>T) c.4313-15A>T (n.4313-15A>T) c.2651-15A>T (n.2651-15A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108687469T>G | CA2739273720 | COL4A5 | c.4316-13T>G (n.4316-13T>G) c.4298-13T>G (n.4298-13T>G) n.810-13T>G n.719-13T>G c.112-13T>G c.4307-13T>G (n.4307-13T>G) c.3992-13T>G (n.3992-13T>G) c.1889-13T>G (n.1889-13T>G) c.4331-13T>G (n.4331-13T>G) c.4322-13T>G (n.4322-13T>G) c.4313-13T>G (n.4313-13T>G) c.2651-13T>G (n.2651-13T>G) | ClinVar |
| X | g.108687470T>C | CA2450719191 | COL4A5 | c.4316-12T>C (n.4316-12T>C) c.4298-12T>C (n.4298-12T>C) n.810-12T>C n.719-12T>C c.112-12T>C c.4307-12T>C (n.4307-12T>C) c.3992-12T>C (n.3992-12T>C) c.1889-12T>C (n.1889-12T>C) c.4331-12T>C (n.4331-12T>C) c.4322-12T>C (n.4322-12T>C) c.4313-12T>C (n.4313-12T>C) c.2651-12T>C (n.2651-12T>C) | ClinVar dbSNP |
| X | g.108687470T= | CA2450719190 | COL4A5 | c.4316-12T= (n.4316-12T=) c.4298-12T= (n.4298-12T=) n.810-12T= n.719-12T= c.112-12T= c.4307-12T= (n.4307-12T=) c.3992-12T= (n.3992-12T=) c.1889-12T= (n.1889-12T=) c.4331-12T= (n.4331-12T=) c.4322-12T= (n.4322-12T=) c.4313-12T= (n.4313-12T=) c.2651-12T= (n.2651-12T=) | |
| X | g.108687471C>A | CA2499226310 | COL4A5 | c.4316-11C>A (n.4316-11C>A) c.4298-11C>A (n.4298-11C>A) n.810-11C>A n.719-11C>A c.112-11C>A c.4307-11C>A (n.4307-11C>A) c.3992-11C>A (n.3992-11C>A) c.1889-11C>A (n.1889-11C>A) c.4331-11C>A (n.4331-11C>A) c.4322-11C>A (n.4322-11C>A) c.4313-11C>A (n.4313-11C>A) c.2651-11C>A (n.2651-11C>A) | ClinVar dbSNP gnomAD v4 |
| X | g.108687471C= | CA2450719192 | COL4A5 | c.4316-11C= (n.4316-11C=) c.4298-11C= (n.4298-11C=) n.810-11C= n.719-11C= c.112-11C= c.4307-11C= (n.4307-11C=) c.3992-11C= (n.3992-11C=) c.1889-11C= (n.1889-11C=) c.4331-11C= (n.4331-11C=) c.4322-11C= (n.4322-11C=) c.4313-11C= (n.4313-11C=) c.2651-11C= (n.2651-11C=) | |
| X | g.108687471C>T | CA10489341 | COL4A5 | c.4316-11C>T (n.4316-11C>T) c.4298-11C>T (n.4298-11C>T) n.810-11C>T n.719-11C>T c.112-11C>T c.4307-11C>T (n.4307-11C>T) c.3992-11C>T (n.3992-11C>T) c.1889-11C>T (n.1889-11C>T) c.4331-11C>T (n.4331-11C>T) c.4322-11C>T (n.4322-11C>T) c.4313-11C>T (n.4313-11C>T) c.2651-11C>T (n.2651-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108687472G>A | CA10489342 | COL4A5 | c.4316-10G>A (n.4316-10G>A) c.4298-10G>A (n.4298-10G>A) n.810-10G>A n.719-10G>A c.112-10G>A c.4307-10G>A (n.4307-10G>A) c.3992-10G>A (n.3992-10G>A) c.1889-10G>A (n.1889-10G>A) c.4331-10G>A (n.4331-10G>A) c.4322-10G>A (n.4322-10G>A) c.4313-10G>A (n.4313-10G>A) c.2651-10G>A (n.2651-10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108687472G>C | CA2573159101 | COL4A5 | c.4316-10G>C (n.4316-10G>C) c.4298-10G>C (n.4298-10G>C) n.810-10G>C n.719-10G>C c.112-10G>C c.4307-10G>C (n.4307-10G>C) c.3992-10G>C (n.3992-10G>C) c.1889-10G>C (n.1889-10G>C) c.4331-10G>C (n.4331-10G>C) c.4322-10G>C (n.4322-10G>C) c.4313-10G>C (n.4313-10G>C) c.2651-10G>C (n.2651-10G>C) | ClinVar dbSNP gnomAD v4 |
| X | g.108687472G= | CA2450719193 | COL4A5 | c.4316-10G= (n.4316-10G=) c.4298-10G= (n.4298-10G=) n.810-10G= n.719-10G= c.112-10G= c.4307-10G= (n.4307-10G=) c.3992-10G= (n.3992-10G=) c.1889-10G= (n.1889-10G=) c.4331-10G= (n.4331-10G=) c.4322-10G= (n.4322-10G=) c.4313-10G= (n.4313-10G=) c.2651-10G= (n.2651-10G=) | |
| X | g.108687472G>T | CA2694414839 | COL4A5 | c.4316-10G>T (n.4316-10G>T) c.4298-10G>T (n.4298-10G>T) n.810-10G>T n.719-10G>T c.112-10G>T c.4307-10G>T (n.4307-10G>T) c.3992-10G>T (n.3992-10G>T) c.1889-10G>T (n.1889-10G>T) c.4331-10G>T (n.4331-10G>T) c.4322-10G>T (n.4322-10G>T) c.4313-10G>T (n.4313-10G>T) c.2651-10G>T (n.2651-10G>T) | gnomAD v4 |
| X | g.108687474G>A | CA2739290546 | COL4A5 | c.4316-8G>A (n.4316-8G>A) c.4298-8G>A (n.4298-8G>A) n.810-8G>A n.719-8G>A c.112-8G>A c.4307-8G>A (n.4307-8G>A) c.3992-8G>A (n.3992-8G>A) c.1889-8G>A (n.1889-8G>A) c.4331-8G>A (n.4331-8G>A) c.4322-8G>A (n.4322-8G>A) c.4313-8G>A (n.4313-8G>A) c.2651-8G>A (n.2651-8G>A) | |
| X | g.108687474G>T | CA2579677159 | COL4A5 | c.4316-8G>T (n.4316-8G>T) c.4298-8G>T (n.4298-8G>T) n.810-8G>T n.719-8G>T c.112-8G>T c.4307-8G>T (n.4307-8G>T) c.3992-8G>T (n.3992-8G>T) c.1889-8G>T (n.1889-8G>T) c.4331-8G>T (n.4331-8G>T) c.4322-8G>T (n.4322-8G>T) c.4313-8G>T (n.4313-8G>T) c.2651-8G>T (n.2651-8G>T) | |
| X | g.108687475G>A | CA334058945 | COL4A5 | c.4316-7G>A (n.4316-7G>A) c.4298-7G>A (n.4298-7G>A) n.810-7G>A n.719-7G>A c.112-7G>A c.4307-7G>A (n.4307-7G>A) c.3992-7G>A (n.3992-7G>A) c.1889-7G>A (n.1889-7G>A) c.4331-7G>A (n.4331-7G>A) c.4322-7G>A (n.4322-7G>A) c.4313-7G>A (n.4313-7G>A) c.2651-7G>A (n.2651-7G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108687475G= | CA2450719194 | COL4A5 | c.4316-7G= (n.4316-7G=) c.4298-7G= (n.4298-7G=) n.810-7G= n.719-7G= c.112-7G= c.4307-7G= (n.4307-7G=) c.3992-7G= (n.3992-7G=) c.1889-7G= (n.1889-7G=) c.4331-7G= (n.4331-7G=) c.4322-7G= (n.4322-7G=) c.4313-7G= (n.4313-7G=) c.2651-7G= (n.2651-7G=) | |
| X | g.108687480A>C | CA413853898 | COL4A5 | c.4316-2A>C (n.4316-2A>C) c.4298-2A>C (n.4298-2A>C) n.810-2A>C n.719-2A>C c.112-2A>C c.4307-2A>C (n.4307-2A>C) c.3992-2A>C (n.3992-2A>C) c.1889-2A>C (n.1889-2A>C) c.4331-2A>C (n.4331-2A>C) c.4322-2A>C (n.4322-2A>C) c.4313-2A>C (n.4313-2A>C) c.2651-2A>C (n.2651-2A>C) | |
| X | g.108687480A>G | CA413853900 | COL4A5 | c.4316-2A>G (n.4316-2A>G) c.4298-2A>G (n.4298-2A>G) n.810-2A>G n.719-2A>G c.112-2A>G c.4307-2A>G (n.4307-2A>G) c.3992-2A>G (n.3992-2A>G) c.1889-2A>G (n.1889-2A>G) c.4331-2A>G (n.4331-2A>G) c.4322-2A>G (n.4322-2A>G) c.4313-2A>G (n.4313-2A>G) c.2651-2A>G (n.2651-2A>G) | |
| X | g.108687480A>T | CA413853902 | COL4A5 | c.4316-2A>T (n.4316-2A>T) c.4298-2A>T (n.4298-2A>T) n.810-2A>T n.719-2A>T c.112-2A>T c.4307-2A>T (n.4307-2A>T) c.3992-2A>T (n.3992-2A>T) c.1889-2A>T (n.1889-2A>T) c.4331-2A>T (n.4331-2A>T) c.4322-2A>T (n.4322-2A>T) c.4313-2A>T (n.4313-2A>T) c.2651-2A>T (n.2651-2A>T) | |
| X | g.108687481G>A | CA413853904 | COL4A5 | c.4316-1G>A (n.4316-1G>A) c.4298-1G>A (n.4298-1G>A) n.810-1G>A n.719-1G>A c.112-1G>A c.4307-1G>A (n.4307-1G>A) c.3992-1G>A (n.3992-1G>A) c.1889-1G>A (n.1889-1G>A) c.4331-1G>A (n.4331-1G>A) c.4322-1G>A (n.4322-1G>A) c.4313-1G>A (n.4313-1G>A) c.2651-1G>A (n.2651-1G>A) | |
| X | g.108687481G>C | CA259022 | COL4A5 | c.4316-1G>C (n.4316-1G>C) c.4298-1G>C (n.4298-1G>C) n.810-1G>C n.719-1G>C c.112-1G>C c.4307-1G>C (n.4307-1G>C) c.3992-1G>C (n.3992-1G>C) c.1889-1G>C (n.1889-1G>C) c.4331-1G>C (n.4331-1G>C) c.4322-1G>C (n.4322-1G>C) c.4313-1G>C (n.4313-1G>C) c.2651-1G>C (n.2651-1G>C) | dbSNP |
| X | g.108687481G= | CA2450719196 | COL4A5 | c.4316-1G= (n.4316-1G=) c.4298-1G= (n.4298-1G=) n.810-1G= n.719-1G= c.112-1G= c.4307-1G= (n.4307-1G=) c.3992-1G= (n.3992-1G=) c.1889-1G= (n.1889-1G=) c.4331-1G= (n.4331-1G=) c.4322-1G= (n.4322-1G=) c.4313-1G= (n.4313-1G=) c.2651-1G= (n.2651-1G=) | |
| X | g.108687481G>T | CA413853906 | COL4A5 | c.4316-1G>T (n.4316-1G>T) c.4298-1G>T (n.4298-1G>T) n.810-1G>T n.719-1G>T c.112-1G>T c.4307-1G>T (n.4307-1G>T) c.3992-1G>T (n.3992-1G>T) c.1889-1G>T (n.1889-1G>T) c.4331-1G>T (n.4331-1G>T) c.4322-1G>T (n.4322-1G>T) c.4313-1G>T (n.4313-1G>T) c.2651-1G>T (n.2651-1G>T) | ClinVar dbSNP |
| X | g.108687482del | CA2695235233 | COL4A5 | c.4316del c.4298del n.810del n.719del c.112del c.4307del c.3992del c.1889del c.4331del c.4322del c.4313del c.2651del | |
| X | g.108687484_108687501dup | CA2580100163 | COL4A5 | c.4318_4335dup c.4300_4317dup n.812_829dup c.114_131dup c.4309_4326dup c.3994_4011dup c.1891_1908dup c.4333_4350dup c.4324_4341dup c.4315_4332dup c.2653_2670dup | ClinVar |
| X | g.108687482G>A | CA413853907 | COL4A5 | c.4316G>A (p.Gly1439Asp) c.4298G>A (p.Gly1433Asp) n.810G>A n.719G>A c.112G>A c.4307G>A (p.Gly1436Asp) c.3992G>A (p.Gly1331Asp) c.1889G>A (p.Gly630Asp) c.4331G>A (p.Gly1444Asp) c.4322G>A (p.Gly1441Asp) c.4313G>A (p.Gly1438Asp) c.2651G>A (p.Gly884Asp) | ClinVar dbSNP gnomAD v4 |
| X | g.108687482G>C | CA413853909 | COL4A5 | c.4316G>C (p.Gly1439Ala) c.4298G>C (p.Gly1433Ala) n.810G>C n.719G>C c.112G>C c.4307G>C (p.Gly1436Ala) c.3992G>C (p.Gly1331Ala) c.1889G>C (p.Gly630Ala) c.4331G>C (p.Gly1444Ala) c.4322G>C (p.Gly1441Ala) c.4313G>C (p.Gly1438Ala) c.2651G>C (p.Gly884Ala) | |
| X | g.108687482G= | CA2450719198 | COL4A5 | c.4316G= (p.Gly1439=) c.4298G= (p.Gly1433=) n.810G= n.719G= c.112G= c.4307G= (p.Gly1436=) c.3992G= (p.Gly1331=) c.1889G= (p.Gly630=) c.4331G= (p.Gly1444=) c.4322G= (p.Gly1441=) c.4313G= (p.Gly1438=) c.2651G= (p.Gly884=) | |
| X | g.108687482G>T | CA261099 | COL4A5 | c.4316G>T (p.Gly1439Val) c.4298G>T (p.Gly1433Val) n.810G>T n.719G>T c.112G>T c.4307G>T (p.Gly1436Val) c.3992G>T (p.Gly1331Val) c.1889G>T (p.Gly630Val) c.4331G>T (p.Gly1444Val) c.4322G>T (p.Gly1441Val) c.4313G>T (p.Gly1438Val) c.2651G>T (p.Gly884Val) | dbSNP |
| X | g.108687483T>A | CA517924384 | COL4A5 | c.4317T>A (p.Gly1439=) c.4299T>A (p.Gly1433=) n.811T>A n.720T>A c.113T>A c.4308T>A (p.Gly1436=) c.3993T>A (p.Gly1331=) c.1890T>A (p.Gly630=) c.4332T>A (p.Gly1444=) c.4323T>A (p.Gly1441=) c.4314T>A (p.Gly1438=) c.2652T>A (p.Gly884=) | |
| X | g.108687483T>C | CA517924386 | COL4A5 | c.4317T>C (p.Gly1439=) c.4299T>C (p.Gly1433=) n.811T>C n.720T>C c.113T>C c.4308T>C (p.Gly1436=) c.3993T>C (p.Gly1331=) c.1890T>C (p.Gly630=) c.4332T>C (p.Gly1444=) c.4323T>C (p.Gly1441=) c.4314T>C (p.Gly1438=) c.2652T>C (p.Gly884=) | |
| X | g.108687483T>G | CA517924388 | COL4A5 | c.4317T>G (p.Gly1439=) c.4299T>G (p.Gly1433=) n.811T>G n.720T>G c.113T>G c.4308T>G (p.Gly1436=) c.3993T>G (p.Gly1331=) c.1890T>G (p.Gly630=) c.4332T>G (p.Gly1444=) c.4323T>G (p.Gly1441=) c.4314T>G (p.Gly1438=) c.2652T>G (p.Gly884=) | |
| X | g.108687484A>C | CA413853912 | COL4A5 | c.4318A>C (p.Thr1440Pro) c.4300A>C (p.Thr1434Pro) n.812A>C n.721A>C c.114A>C c.4309A>C (p.Thr1437Pro) c.3994A>C (p.Thr1332Pro) c.1891A>C (p.Thr631Pro) c.4333A>C (p.Thr1445Pro) c.4324A>C (p.Thr1442Pro) c.4315A>C (p.Thr1439Pro) c.2653A>C (p.Thr885Pro) | |
| X | g.108687484A>G | CA413853913 | COL4A5 | c.4318A>G (p.Thr1440Ala) c.4300A>G (p.Thr1434Ala) n.812A>G n.721A>G c.114A>G c.4309A>G (p.Thr1437Ala) c.3994A>G (p.Thr1332Ala) c.1891A>G (p.Thr631Ala) c.4333A>G (p.Thr1445Ala) c.4324A>G (p.Thr1442Ala) c.4315A>G (p.Thr1439Ala) c.2653A>G (p.Thr885Ala) | |
| X | g.108687484A>T | CA413853915 | COL4A5 | c.4318A>T (p.Thr1440Ser) c.4300A>T (p.Thr1434Ser) n.812A>T n.721A>T c.114A>T c.4309A>T (p.Thr1437Ser) c.3994A>T (p.Thr1332Ser) c.1891A>T (p.Thr631Ser) c.4333A>T (p.Thr1445Ser) c.4324A>T (p.Thr1442Ser) c.4315A>T (p.Thr1439Ser) c.2653A>T (p.Thr885Ser) | |
| X | g.108687485C>A | CA413853919 | COL4A5 | c.4319C>A (p.Thr1440Asn) c.4301C>A (p.Thr1434Asn) n.813C>A n.722C>A c.115C>A c.4310C>A (p.Thr1437Asn) c.3995C>A (p.Thr1332Asn) c.1892C>A (p.Thr631Asn) c.4334C>A (p.Thr1445Asn) c.4325C>A (p.Thr1442Asn) c.4316C>A (p.Thr1439Asn) c.2654C>A (p.Thr885Asn) | |
| X | g.108687485C= | CA2450719200 | COL4A5 | c.4319C= (p.Thr1440=) c.4301C= (p.Thr1434=) n.813C= n.722C= c.115C= c.4310C= (p.Thr1437=) c.3995C= (p.Thr1332=) c.1892C= (p.Thr631=) c.4334C= (p.Thr1445=) c.4325C= (p.Thr1442=) c.4316C= (p.Thr1439=) c.2654C= (p.Thr885=) | |
| X | g.108687485C>G | CA413853920 | COL4A5 | c.4319C>G (p.Thr1440Ser) c.4301C>G (p.Thr1434Ser) n.813C>G n.722C>G c.115C>G c.4310C>G (p.Thr1437Ser) c.3995C>G (p.Thr1332Ser) c.1892C>G (p.Thr631Ser) c.4334C>G (p.Thr1445Ser) c.4325C>G (p.Thr1442Ser) c.4316C>G (p.Thr1439Ser) c.2654C>G (p.Thr885Ser) | |
| X | g.108687485C>T | CA413853918 | COL4A5 | c.4319C>T (p.Thr1440Ile) c.4301C>T (p.Thr1434Ile) n.813C>T n.722C>T c.115C>T c.4310C>T (p.Thr1437Ile) c.3995C>T (p.Thr1332Ile) c.1892C>T (p.Thr631Ile) c.4334C>T (p.Thr1445Ile) c.4325C>T (p.Thr1442Ile) c.4316C>T (p.Thr1439Ile) c.2654C>T (p.Thr885Ile) | dbSNP |
| X | g.108687486C>A | CA517924389 | COL4A5 | c.4320C>A (p.Thr1440=) c.4302C>A (p.Thr1434=) n.814C>A n.723C>A c.116C>A c.4311C>A (p.Thr1437=) c.3996C>A (p.Thr1332=) c.1893C>A (p.Thr631=) c.4335C>A (p.Thr1445=) c.4326C>A (p.Thr1442=) c.4317C>A (p.Thr1439=) c.2655C>A (p.Thr885=) | |
| X | g.108687486C>G | CA517924393 | COL4A5 | c.4320C>G (p.Thr1440=) c.4302C>G (p.Thr1434=) n.814C>G n.723C>G c.116C>G c.4311C>G (p.Thr1437=) c.3996C>G (p.Thr1332=) c.1893C>G (p.Thr631=) c.4335C>G (p.Thr1445=) c.4326C>G (p.Thr1442=) c.4317C>G (p.Thr1439=) c.2655C>G (p.Thr885=) | |
| X | g.108687486C>T | CA517924391 | COL4A5 | c.4320C>T (p.Thr1440=) c.4302C>T (p.Thr1434=) n.814C>T n.723C>T c.116C>T c.4311C>T (p.Thr1437=) c.3996C>T (p.Thr1332=) c.1893C>T (p.Thr631=) c.4335C>T (p.Thr1445=) c.4326C>T (p.Thr1442=) c.4317C>T (p.Thr1439=) c.2655C>T (p.Thr885=) | |
| X | g.108687487C>A | CA413853923 | COL4A5 | c.4321C>A (p.Arg1441Ser) c.4303C>A (p.Arg1435Ser) n.815C>A n.724C>A c.117C>A c.4312C>A (p.Arg1438Ser) c.3997C>A (p.Arg1333Ser) c.1894C>A (p.Arg632Ser) c.4336C>A (p.Arg1446Ser) c.4327C>A (p.Arg1443Ser) c.4318C>A (p.Arg1440Ser) c.2656C>A (p.Arg886Ser) | |
| X | g.108687487C= | CA2450719201 | COL4A5 | c.4321C= (p.Arg1441=) c.4303C= (p.Arg1435=) n.815C= n.724C= c.117C= c.4312C= (p.Arg1438=) c.3997C= (p.Arg1333=) c.1894C= (p.Arg632=) c.4336C= (p.Arg1446=) c.4327C= (p.Arg1443=) c.4318C= (p.Arg1440=) c.2656C= (p.Arg886=) | |
| X | g.108687487C>G | CA413853925 | COL4A5 | c.4321C>G (p.Arg1441Gly) c.4303C>G (p.Arg1435Gly) n.815C>G n.724C>G c.117C>G c.4312C>G (p.Arg1438Gly) c.3997C>G (p.Arg1333Gly) c.1894C>G (p.Arg632Gly) c.4336C>G (p.Arg1446Gly) c.4327C>G (p.Arg1443Gly) c.4318C>G (p.Arg1440Gly) c.2656C>G (p.Arg886Gly) | |
| X | g.108687487C>T | CA413853926 | COL4A5 | c.4321C>T (p.Arg1441Cys) c.4303C>T (p.Arg1435Cys) n.815C>T n.724C>T c.117C>T c.4312C>T (p.Arg1438Cys) c.3997C>T (p.Arg1333Cys) c.1894C>T (p.Arg632Cys) c.4336C>T (p.Arg1446Cys) c.4327C>T (p.Arg1443Cys) c.4318C>T (p.Arg1440Cys) c.2656C>T (p.Arg886Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108687488G>A | CA413853929 | COL4A5 | c.4322G>A (p.Arg1441His) c.4304G>A (p.Arg1435His) n.816G>A n.725G>A c.118G>A c.4313G>A (p.Arg1438His) c.3998G>A (p.Arg1333His) c.1895G>A (p.Arg632His) c.4337G>A (p.Arg1446His) c.4328G>A (p.Arg1443His) c.4319G>A (p.Arg1440His) c.2657G>A (p.Arg886His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108687488G>C | CA413853931 | COL4A5 | c.4322G>C (p.Arg1441Pro) c.4304G>C (p.Arg1435Pro) n.816G>C n.725G>C c.118G>C c.4313G>C (p.Arg1438Pro) c.3998G>C (p.Arg1333Pro) c.1895G>C (p.Arg632Pro) c.4337G>C (p.Arg1446Pro) c.4328G>C (p.Arg1443Pro) c.4319G>C (p.Arg1440Pro) c.2657G>C (p.Arg886Pro) | |
| X | g.108687488G= | CA2450719204 | COL4A5 | c.4322G= (p.Arg1441=) c.4304G= (p.Arg1435=) n.816G= n.725G= c.118G= c.4313G= (p.Arg1438=) c.3998G= (p.Arg1333=) c.1895G= (p.Arg632=) c.4337G= (p.Arg1446=) c.4328G= (p.Arg1443=) c.4319G= (p.Arg1440=) c.2657G= (p.Arg886=) | |
| X | g.108687488G>T | CA413853932 | COL4A5 | c.4322G>T (p.Arg1441Leu) c.4304G>T (p.Arg1435Leu) n.816G>T n.725G>T c.118G>T c.4313G>T (p.Arg1438Leu) c.3998G>T (p.Arg1333Leu) c.1895G>T (p.Arg632Leu) c.4337G>T (p.Arg1446Leu) c.4328G>T (p.Arg1443Leu) c.4319G>T (p.Arg1440Leu) c.2657G>T (p.Arg886Leu) | |
| X | g.108687488_108687515delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA | CA2450719203 | COL4A5 | c.4322_4349delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1441=) c.4304_4331delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1435=) n.816_843delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA c.118_145delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA c.4313_4340delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1438=) c.3998_4025delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1333=) c.1895_1922delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg632=) c.4337_4364delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1446=) c.4328_4355delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1443=) c.4319_4346delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1440=) c.2657_2684delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg886=) | |
| X | g.108687489T>A | CA517924397 | COL4A5 | c.4323T>A (p.Arg1441=) c.4305T>A (p.Arg1435=) n.817T>A n.726T>A c.119T>A c.4314T>A (p.Arg1438=) c.3999T>A (p.Arg1333=) c.1896T>A (p.Arg632=) c.4338T>A (p.Arg1446=) c.4329T>A (p.Arg1443=) c.4320T>A (p.Arg1440=) c.2658T>A (p.Arg886=) | |
| X | g.108687489T>C | CA517924398 | COL4A5 | c.4323T>C (p.Arg1441=) c.4305T>C (p.Arg1435=) n.817T>C n.726T>C c.119T>C c.4314T>C (p.Arg1438=) c.3999T>C (p.Arg1333=) c.1896T>C (p.Arg632=) c.4338T>C (p.Arg1446=) c.4329T>C (p.Arg1443=) c.4320T>C (p.Arg1440=) c.2658T>C (p.Arg886=) | gnomAD v4 |
| X | g.108687489T>G | CA517924400 | COL4A5 | c.4323T>G (p.Arg1441=) c.4305T>G (p.Arg1435=) n.817T>G n.726T>G c.119T>G c.4314T>G (p.Arg1438=) c.3999T>G (p.Arg1333=) c.1896T>G (p.Arg632=) c.4338T>G (p.Arg1446=) c.4329T>G (p.Arg1443=) c.4320T>G (p.Arg1440=) c.2658T>G (p.Arg886=) | |
| X | g.108687492_108687518del | CA334058980 | COL4A5 | c.4326_4352del (p.Leu1443_Gly1451del) c.4308_4334del (p.Leu1437_Gly1445del) n.820_846del c.122_148del c.4317_4343del (p.Leu1440_Gly1448del) c.4002_4028del (p.Leu1335_Gly1343del) c.1899_1925del (p.Leu634_Gly642del) c.4341_4367del (p.Leu1448_Gly1456del) c.4332_4358del (p.Leu1445_Gly1453del) c.4323_4349del (p.Leu1442_Gly1450del) c.2661_2687del (p.Leu888_Gly896del) | dbSNP |
| X | g.108687490G>A | CA413853935 | COL4A5 | c.4324G>A (p.Gly1442Ser) c.4306G>A (p.Gly1436Ser) n.818G>A n.727G>A c.120G>A c.4315G>A (p.Gly1439Ser) c.4000G>A (p.Gly1334Ser) c.1897G>A (p.Gly633Ser) c.4339G>A (p.Gly1447Ser) c.4330G>A (p.Gly1444Ser) c.4321G>A (p.Gly1441Ser) c.2659G>A (p.Gly887Ser) | |
| X | g.108687490G>C | CA413853937 | COL4A5 | c.4324G>C (p.Gly1442Arg) c.4306G>C (p.Gly1436Arg) n.818G>C n.727G>C c.120G>C c.4315G>C (p.Gly1439Arg) c.4000G>C (p.Gly1334Arg) c.1897G>C (p.Gly633Arg) c.4339G>C (p.Gly1447Arg) c.4330G>C (p.Gly1444Arg) c.4321G>C (p.Gly1441Arg) c.2659G>C (p.Gly887Arg) | |
| X | g.108687490G>T | CA413853938 | COL4A5 | c.4324G>T (p.Gly1442Cys) c.4306G>T (p.Gly1436Cys) n.818G>T n.727G>T c.120G>T c.4315G>T (p.Gly1439Cys) c.4000G>T (p.Gly1334Cys) c.1897G>T (p.Gly633Cys) c.4339G>T (p.Gly1447Cys) c.4330G>T (p.Gly1444Cys) c.4321G>T (p.Gly1441Cys) c.2659G>T (p.Gly887Cys) | |
| X | g.108687491G>A | CA413853940 | COL4A5 | c.4325G>A (p.Gly1442Asp) c.4307G>A (p.Gly1436Asp) n.819G>A n.728G>A c.121G>A c.4316G>A (p.Gly1439Asp) c.4001G>A (p.Gly1334Asp) c.1898G>A (p.Gly633Asp) c.4340G>A (p.Gly1447Asp) c.4331G>A (p.Gly1444Asp) c.4322G>A (p.Gly1441Asp) c.2660G>A (p.Gly887Asp) | ClinVar dbSNP |
| X | g.108687491G>C | CA413853942 | COL4A5 | c.4325G>C (p.Gly1442Ala) c.4307G>C (p.Gly1436Ala) n.819G>C n.728G>C c.121G>C c.4316G>C (p.Gly1439Ala) c.4001G>C (p.Gly1334Ala) c.1898G>C (p.Gly633Ala) c.4340G>C (p.Gly1447Ala) c.4331G>C (p.Gly1444Ala) c.4322G>C (p.Gly1441Ala) c.2660G>C (p.Gly887Ala) | |
| X | g.108687491G>T | CA413853944 | COL4A5 | c.4325G>T (p.Gly1442Val) c.4307G>T (p.Gly1436Val) n.819G>T n.728G>T c.121G>T c.4316G>T (p.Gly1439Val) c.4001G>T (p.Gly1334Val) c.1898G>T (p.Gly633Val) c.4340G>T (p.Gly1447Val) c.4331G>T (p.Gly1444Val) c.4322G>T (p.Gly1441Val) c.2660G>T (p.Gly887Val) | |
| X | g.108687492T>A | CA10489343 | COL4A5 | c.4326T>A (p.Gly1442=) c.4308T>A (p.Gly1436=) n.820T>A n.729T>A c.122T>A c.4317T>A (p.Gly1439=) c.4002T>A (p.Gly1334=) c.1899T>A (p.Gly633=) c.4341T>A (p.Gly1447=) c.4332T>A (p.Gly1444=) c.4323T>A (p.Gly1441=) c.2661T>A (p.Gly887=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108687492T>C | CA517924404 | COL4A5 | c.4326T>C (p.Gly1442=) c.4308T>C (p.Gly1436=) n.820T>C n.729T>C c.122T>C c.4317T>C (p.Gly1439=) c.4002T>C (p.Gly1334=) c.1899T>C (p.Gly633=) c.4341T>C (p.Gly1447=) c.4332T>C (p.Gly1444=) c.4323T>C (p.Gly1441=) c.2661T>C (p.Gly887=) | |
| X | g.108687492T>G | CA517924406 | COL4A5 | c.4326T>G (p.Gly1442=) c.4308T>G (p.Gly1436=) n.820T>G n.729T>G c.122T>G c.4317T>G (p.Gly1439=) c.4002T>G (p.Gly1334=) c.1899T>G (p.Gly633=) c.4341T>G (p.Gly1447=) c.4332T>G (p.Gly1444=) c.4323T>G (p.Gly1441=) c.2661T>G (p.Gly887=) | |
| X | g.108687492T= | CA2450719206 | COL4A5 | c.4326T= (p.Gly1442=) c.4308T= (p.Gly1436=) n.820T= n.729T= c.122T= c.4317T= (p.Gly1439=) c.4002T= (p.Gly1334=) c.1899T= (p.Gly633=) c.4341T= (p.Gly1447=) c.4332T= (p.Gly1444=) c.4323T= (p.Gly1441=) c.2661T= (p.Gly887=) | |
| X | g.108687493T>A | CA413853947 | COL4A5 | c.4327T>A (p.Leu1443Met) c.4309T>A (p.Leu1437Met) n.821T>A n.730T>A c.123T>A c.4318T>A (p.Leu1440Met) c.4003T>A (p.Leu1335Met) c.1900T>A (p.Leu634Met) c.4342T>A (p.Leu1448Met) c.4333T>A (p.Leu1445Met) c.4324T>A (p.Leu1442Met) c.2662T>A (p.Leu888Met) | |
| X | g.108687493T>C | CA517924407 | COL4A5 | c.4327T>C (p.Leu1443=) c.4309T>C (p.Leu1437=) n.821T>C n.730T>C c.123T>C c.4318T>C (p.Leu1440=) c.4003T>C (p.Leu1335=) c.1900T>C (p.Leu634=) c.4342T>C (p.Leu1448=) c.4333T>C (p.Leu1445=) c.4324T>C (p.Leu1442=) c.2662T>C (p.Leu888=) | |
| X | g.108687493T>G | CA413853946 | COL4A5 | c.4327T>G (p.Leu1443Val) c.4309T>G (p.Leu1437Val) n.821T>G n.730T>G c.123T>G c.4318T>G (p.Leu1440Val) c.4003T>G (p.Leu1335Val) c.1900T>G (p.Leu634Val) c.4342T>G (p.Leu1448Val) c.4333T>G (p.Leu1445Val) c.4324T>G (p.Leu1442Val) c.2662T>G (p.Leu888Val) | |
| X | g.108687494T>A | CA413853948 | COL4A5 | c.4328T>A (p.Leu1443Ter) c.4310T>A (p.Leu1437Ter) n.822T>A n.731T>A c.124T>A c.4319T>A (p.Leu1440Ter) c.4004T>A (p.Leu1335Ter) c.1901T>A (p.Leu634Ter) c.4343T>A (p.Leu1448Ter) c.4334T>A (p.Leu1445Ter) c.4325T>A (p.Leu1442Ter) c.2663T>A (p.Leu888Ter) | |
| X | g.108687494T>C | CA413853949 | COL4A5 | c.4328T>C (p.Leu1443Ser) c.4310T>C (p.Leu1437Ser) n.822T>C n.731T>C c.124T>C c.4319T>C (p.Leu1440Ser) c.4004T>C (p.Leu1335Ser) c.1901T>C (p.Leu634Ser) c.4343T>C (p.Leu1448Ser) c.4334T>C (p.Leu1445Ser) c.4325T>C (p.Leu1442Ser) c.2663T>C (p.Leu888Ser) | |
| X | g.108687494T>G | CA413853951 | COL4A5 | c.4328T>G (p.Leu1443Trp) c.4310T>G (p.Leu1437Trp) n.822T>G n.731T>G c.124T>G c.4319T>G (p.Leu1440Trp) c.4004T>G (p.Leu1335Trp) c.1901T>G (p.Leu634Trp) c.4343T>G (p.Leu1448Trp) c.4334T>G (p.Leu1445Trp) c.4325T>G (p.Leu1442Trp) c.2663T>G (p.Leu888Trp) | |
| X | g.108687495G>A | CA517924410 | COL4A5 | c.4329G>A (p.Leu1443=) c.4311G>A (p.Leu1437=) n.823G>A n.732G>A c.125G>A c.4320G>A (p.Leu1440=) c.4005G>A (p.Leu1335=) c.1902G>A (p.Leu634=) c.4344G>A (p.Leu1448=) c.4335G>A (p.Leu1445=) c.4326G>A (p.Leu1442=) c.2664G>A (p.Leu888=) | gnomAD v4 |
| X | g.108687495G>C | CA413853953 | COL4A5 | c.4329G>C (p.Leu1443Phe) c.4311G>C (p.Leu1437Phe) n.823G>C n.732G>C c.125G>C c.4320G>C (p.Leu1440Phe) c.4005G>C (p.Leu1335Phe) c.1902G>C (p.Leu634Phe) c.4344G>C (p.Leu1448Phe) c.4335G>C (p.Leu1445Phe) c.4326G>C (p.Leu1442Phe) c.2664G>C (p.Leu888Phe) | |
| X | g.108687495G>T | CA413853955 | COL4A5 | c.4329G>T (p.Leu1443Phe) c.4311G>T (p.Leu1437Phe) n.823G>T n.732G>T c.125G>T c.4320G>T (p.Leu1440Phe) c.4005G>T (p.Leu1335Phe) c.1902G>T (p.Leu634Phe) c.4344G>T (p.Leu1448Phe) c.4335G>T (p.Leu1445Phe) c.4326G>T (p.Leu1442Phe) c.2664G>T (p.Leu888Phe) | |
| X | g.108687496G>A | CA413853957 | COL4A5 | c.4330G>A (p.Asp1444Asn) c.4312G>A (p.Asp1438Asn) n.824G>A n.733G>A c.126G>A c.4321G>A (p.Asp1441Asn) c.4006G>A (p.Asp1336Asn) c.1903G>A (p.Asp635Asn) c.4345G>A (p.Asp1449Asn) c.4336G>A (p.Asp1446Asn) c.4327G>A (p.Asp1443Asn) c.2665G>A (p.Asp889Asn) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108687496G>C | CA413853959 | COL4A5 | c.4330G>C (p.Asp1444His) c.4312G>C (p.Asp1438His) n.824G>C n.733G>C c.126G>C c.4321G>C (p.Asp1441His) c.4006G>C (p.Asp1336His) c.1903G>C (p.Asp635His) c.4345G>C (p.Asp1449His) c.4336G>C (p.Asp1446His) c.4327G>C (p.Asp1443His) c.2665G>C (p.Asp889His) | |
| X | g.108687496G= | CA2450719207 | COL4A5 | c.4330G= (p.Asp1444=) c.4312G= (p.Asp1438=) n.824G= n.733G= c.126G= c.4321G= (p.Asp1441=) c.4006G= (p.Asp1336=) c.1903G= (p.Asp635=) c.4345G= (p.Asp1449=) c.4336G= (p.Asp1446=) c.4327G= (p.Asp1443=) c.2665G= (p.Asp889=) | |
| X | g.108687496G>T | CA413853961 | COL4A5 | c.4330G>T (p.Asp1444Tyr) c.4312G>T (p.Asp1438Tyr) n.824G>T n.733G>T c.126G>T c.4321G>T (p.Asp1441Tyr) c.4006G>T (p.Asp1336Tyr) c.1903G>T (p.Asp635Tyr) c.4345G>T (p.Asp1449Tyr) c.4336G>T (p.Asp1446Tyr) c.4327G>T (p.Asp1443Tyr) c.2665G>T (p.Asp889Tyr) | |
| X | g.108687497A>C | CA413853963 | COL4A5 | c.4331A>C (p.Asp1444Ala) c.4313A>C (p.Asp1438Ala) n.825A>C n.734A>C c.127A>C c.4322A>C (p.Asp1441Ala) c.4007A>C (p.Asp1336Ala) c.1904A>C (p.Asp635Ala) c.4346A>C (p.Asp1449Ala) c.4337A>C (p.Asp1446Ala) c.4328A>C (p.Asp1443Ala) c.2666A>C (p.Asp889Ala) | |
| X | g.108687497A>G | CA413853965 | COL4A5 | c.4331A>G (p.Asp1444Gly) c.4313A>G (p.Asp1438Gly) n.825A>G n.734A>G c.127A>G c.4322A>G (p.Asp1441Gly) c.4007A>G (p.Asp1336Gly) c.1904A>G (p.Asp635Gly) c.4346A>G (p.Asp1449Gly) c.4337A>G (p.Asp1446Gly) c.4328A>G (p.Asp1443Gly) c.2666A>G (p.Asp889Gly) | |
| X | g.108687497A>T | CA413853967 | COL4A5 | c.4331A>T (p.Asp1444Val) c.4313A>T (p.Asp1438Val) n.825A>T n.734A>T c.127A>T c.4322A>T (p.Asp1441Val) c.4007A>T (p.Asp1336Val) c.1904A>T (p.Asp635Val) c.4346A>T (p.Asp1449Val) c.4337A>T (p.Asp1446Val) c.4328A>T (p.Asp1443Val) c.2666A>T (p.Asp889Val) | |
| X | g.108687498T>A | CA413853969 | COL4A5 | c.4332T>A (p.Asp1444Glu) c.4314T>A (p.Asp1438Glu) n.826T>A n.735T>A c.128T>A c.4323T>A (p.Asp1441Glu) c.4008T>A (p.Asp1336Glu) c.1905T>A (p.Asp635Glu) c.4347T>A (p.Asp1449Glu) c.4338T>A (p.Asp1446Glu) c.4329T>A (p.Asp1443Glu) c.2667T>A (p.Asp889Glu) | |
| X | g.108687498T>C | CA517924415 | COL4A5 | c.4332T>C (p.Asp1444=) c.4314T>C (p.Asp1438=) n.826T>C n.735T>C c.128T>C c.4323T>C (p.Asp1441=) c.4008T>C (p.Asp1336=) c.1905T>C (p.Asp635=) c.4347T>C (p.Asp1449=) c.4338T>C (p.Asp1446=) c.4329T>C (p.Asp1443=) c.2667T>C (p.Asp889=) | |
| X | g.108687498T>G | CA413853970 | COL4A5 | c.4332T>G (p.Asp1444Glu) c.4314T>G (p.Asp1438Glu) n.826T>G n.735T>G c.128T>G c.4323T>G (p.Asp1441Glu) c.4008T>G (p.Asp1336Glu) c.1905T>G (p.Asp635Glu) c.4347T>G (p.Asp1449Glu) c.4338T>G (p.Asp1446Glu) c.4329T>G (p.Asp1443Glu) c.2667T>G (p.Asp889Glu) | |
| X | g.108687498T= | CA2450719209 | COL4A5 | c.4332T= (p.Asp1444=) c.4314T= (p.Asp1438=) n.826T= n.735T= c.128T= c.4323T= (p.Asp1441=) c.4008T= (p.Asp1336=) c.1905T= (p.Asp635=) c.4347T= (p.Asp1449=) c.4338T= (p.Asp1446=) c.4329T= (p.Asp1443=) c.2667T= (p.Asp889=) | |
| X | g.108687499G>A | CA413853971 | COL4A5 | c.4333G>A (p.Gly1445Ser) c.4315G>A (p.Gly1439Ser) n.827G>A n.736G>A c.129G>A c.4324G>A (p.Gly1442Ser) c.4009G>A (p.Gly1337Ser) c.1906G>A (p.Gly636Ser) c.4348G>A (p.Gly1450Ser) c.4339G>A (p.Gly1447Ser) c.4330G>A (p.Gly1444Ser) c.2668G>A (p.Gly890Ser) | |
| X | g.108687499G>C | CA413853972 | COL4A5 | c.4333G>C (p.Gly1445Arg) c.4315G>C (p.Gly1439Arg) n.827G>C n.736G>C c.129G>C c.4324G>C (p.Gly1442Arg) c.4009G>C (p.Gly1337Arg) c.1906G>C (p.Gly636Arg) c.4348G>C (p.Gly1450Arg) c.4339G>C (p.Gly1447Arg) c.4330G>C (p.Gly1444Arg) c.2668G>C (p.Gly890Arg) | |
| X | g.108687499G>T | CA413853973 | COL4A5 | c.4333G>T (p.Gly1445Cys) c.4315G>T (p.Gly1439Cys) n.827G>T n.736G>T c.129G>T c.4324G>T (p.Gly1442Cys) c.4009G>T (p.Gly1337Cys) c.1906G>T (p.Gly636Cys) c.4348G>T (p.Gly1450Cys) c.4339G>T (p.Gly1447Cys) c.4330G>T (p.Gly1444Cys) c.2668G>T (p.Gly890Cys) | |
| X | g.108687510_108687545dup | CA259023 | COL4A5 | c.4344_4379dup (p.Gly1460_Thr1461insProAspGlyLeuGlnGlyProProGlyProProGly) c.4326_4361dup (p.Gly1454_Thr1455insProAspGlyLeuGlnGlyProProGlyProProGly) n.838_873dup c.140_175dup c.4335_4370dup (p.Gly1457_Thr1458insProAspGlyLeuGlnGlyProProGlyProProGly) c.4020_4055dup (p.Gly1352_Thr1353insProAspGlyLeuGlnGlyProProGlyProProGly) c.1917_1952dup (p.Gly651_Thr652insProAspGlyLeuGlnGlyProProGlyProProGly) c.4359_4394dup (p.Gly1465_Thr1466insProAspGlyLeuGlnGlyProProGlyProProGly) c.4350_4385dup (p.Gly1462_Thr1463insProAspGlyLeuGlnGlyProProGlyProProGly) c.4341_4376dup (p.Gly1459_Thr1460insProAspGlyLeuGlnGlyProProGlyProProGly) c.2679_2714dup (p.Gly905_Thr906insProAspGlyLeuGlnGlyProProGlyProProGly) | dbSNP |
| X | g.108687500G>A | CA413853975 | COL4A5 | c.4334G>A (p.Gly1445Asp) c.4316G>A (p.Gly1439Asp) n.828G>A n.737G>A c.130G>A c.4325G>A (p.Gly1442Asp) c.4010G>A (p.Gly1337Asp) c.1907G>A (p.Gly636Asp) c.4349G>A (p.Gly1450Asp) c.4340G>A (p.Gly1447Asp) c.4331G>A (p.Gly1444Asp) c.2669G>A (p.Gly890Asp) | |
| X | g.108687500G>C | CA413853974 | COL4A5 | c.4334G>C (p.Gly1445Ala) c.4316G>C (p.Gly1439Ala) n.828G>C n.737G>C c.130G>C c.4325G>C (p.Gly1442Ala) c.4010G>C (p.Gly1337Ala) c.1907G>C (p.Gly636Ala) c.4349G>C (p.Gly1450Ala) c.4340G>C (p.Gly1447Ala) c.4331G>C (p.Gly1444Ala) c.2669G>C (p.Gly890Ala) | |
| X | g.108687500G= | CA2450719211 | COL4A5 | c.4334G= (p.Gly1445=) c.4316G= (p.Gly1439=) n.828G= n.737G= c.130G= c.4325G= (p.Gly1442=) c.4010G= (p.Gly1337=) c.1907G= (p.Gly636=) c.4349G= (p.Gly1450=) c.4340G= (p.Gly1447=) c.4331G= (p.Gly1444=) c.2669G= (p.Gly890=) | |
| X | g.108687500G>T | CA10489344 | COL4A5 | c.4334G>T (p.Gly1445Val) c.4316G>T (p.Gly1439Val) n.828G>T n.737G>T c.130G>T c.4325G>T (p.Gly1442Val) c.4010G>T (p.Gly1337Val) c.1907G>T (p.Gly636Val) c.4349G>T (p.Gly1450Val) c.4340G>T (p.Gly1447Val) c.4331G>T (p.Gly1444Val) c.2669G>T (p.Gly890Val) | dbSNP ExAC |
| X | g.108687501T>A | CA517924420 | COL4A5 | c.4335T>A (p.Gly1445=) c.4317T>A (p.Gly1439=) n.829T>A c.131T>A c.4326T>A (p.Gly1442=) c.4011T>A (p.Gly1337=) c.1908T>A (p.Gly636=) c.4350T>A (p.Gly1450=) c.4341T>A (p.Gly1447=) c.4332T>A (p.Gly1444=) c.2670T>A (p.Gly890=) | |
| X | g.108687501T>C | CA517924419 | COL4A5 | c.4335T>C (p.Gly1445=) c.4317T>C (p.Gly1439=) n.829T>C c.131T>C c.4326T>C (p.Gly1442=) c.4011T>C (p.Gly1337=) c.1908T>C (p.Gly636=) c.4350T>C (p.Gly1450=) c.4341T>C (p.Gly1447=) c.4332T>C (p.Gly1444=) c.2670T>C (p.Gly890=) | |
| X | g.108687501T>G | CA517924418 | COL4A5 | c.4335T>G (p.Gly1445=) c.4317T>G (p.Gly1439=) n.829T>G c.131T>G c.4326T>G (p.Gly1442=) c.4011T>G (p.Gly1337=) c.1908T>G (p.Gly636=) c.4350T>G (p.Gly1450=) c.4341T>G (p.Gly1447=) c.4332T>G (p.Gly1444=) c.2670T>G (p.Gly890=) | |
| X | g.108687502C>A | CA413853976 | COL4A5 | c.4336C>A (p.Pro1446Thr) c.4318C>A (p.Pro1440Thr) n.830C>A c.132C>A c.4327C>A (p.Pro1443Thr) c.4012C>A (p.Pro1338Thr) c.1909C>A (p.Pro637Thr) c.4351C>A (p.Pro1451Thr) c.4342C>A (p.Pro1448Thr) c.4333C>A (p.Pro1445Thr) c.2671C>A (p.Pro891Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108687502C= | CA2450719213 | COL4A5 | c.4336C= (p.Pro1446=) c.4318C= (p.Pro1440=) n.830C= c.132C= c.4327C= (p.Pro1443=) c.4012C= (p.Pro1338=) c.1909C= (p.Pro637=) c.4351C= (p.Pro1451=) c.4342C= (p.Pro1448=) c.4333C= (p.Pro1445=) c.2671C= (p.Pro891=) | |
| X | g.108687502C>G | CA334059022 | COL4A5 | c.4336C>G (p.Pro1446Ala) c.4318C>G (p.Pro1440Ala) n.830C>G c.132C>G c.4327C>G (p.Pro1443Ala) c.4012C>G (p.Pro1338Ala) c.1909C>G (p.Pro637Ala) c.4351C>G (p.Pro1451Ala) c.4342C>G (p.Pro1448Ala) c.4333C>G (p.Pro1445Ala) c.2671C>G (p.Pro891Ala) | dbSNP |
| X | g.108687502C>T | CA413853977 | COL4A5 | c.4336C>T (p.Pro1446Ser) c.4318C>T (p.Pro1440Ser) n.830C>T c.132C>T c.4327C>T (p.Pro1443Ser) c.4012C>T (p.Pro1338Ser) c.1909C>T (p.Pro637Ser) c.4351C>T (p.Pro1451Ser) c.4342C>T (p.Pro1448Ser) c.4333C>T (p.Pro1445Ser) c.2671C>T (p.Pro891Ser) | |
| X | g.108687505_108687506dup | CA2573159105 | COL4A5 | c.4339_4340dup (p.Gly1448LeufsTer?) c.4321_4322dup (p.Gly1442LeufsTer?) n.833_834dup c.135_136dup c.4330_4331dup (p.Gly1445LeufsTer?) c.4015_4016dup (p.Gly1340LeufsTer?) c.1912_1913dup (p.Gly639LeufsTer?) c.4354_4355dup (p.Gly1453LeufsTer?) c.4345_4346dup (p.Gly1450LeufsTer?) c.4336_4337dup (p.Gly1447LeufsTer?) c.2674_2675dup (p.Gly893LeufsTer?) | ClinVar dbSNP |
| X | g.108687503C>A | CA10489345 | COL4A5 | c.4337C>A (p.Pro1446His) c.4319C>A (p.Pro1440His) n.831C>A c.133C>A c.4328C>A (p.Pro1443His) c.4013C>A (p.Pro1338His) c.1910C>A (p.Pro637His) c.4352C>A (p.Pro1451His) c.4343C>A (p.Pro1448His) c.4334C>A (p.Pro1445His) c.2672C>A (p.Pro891His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108687503C= | CA2450719214 | COL4A5 | c.4337C= (p.Pro1446=) c.4319C= (p.Pro1440=) n.831C= c.133C= c.4328C= (p.Pro1443=) c.4013C= (p.Pro1338=) c.1910C= (p.Pro637=) c.4352C= (p.Pro1451=) c.4343C= (p.Pro1448=) c.4334C= (p.Pro1445=) c.2672C= (p.Pro891=) | |
| X | g.108687503C>G | CA413853978 | COL4A5 | c.4337C>G (p.Pro1446Arg) c.4319C>G (p.Pro1440Arg) n.831C>G c.133C>G c.4328C>G (p.Pro1443Arg) c.4013C>G (p.Pro1338Arg) c.1910C>G (p.Pro637Arg) c.4352C>G (p.Pro1451Arg) c.4343C>G (p.Pro1448Arg) c.4334C>G (p.Pro1445Arg) c.2672C>G (p.Pro891Arg) | |
| X | g.108687503C>T | CA413853979 | COL4A5 | c.4337C>T (p.Pro1446Leu) c.4319C>T (p.Pro1440Leu) n.831C>T c.133C>T c.4328C>T (p.Pro1443Leu) c.4013C>T (p.Pro1338Leu) c.1910C>T (p.Pro637Leu) c.4352C>T (p.Pro1451Leu) c.4343C>T (p.Pro1448Leu) c.4334C>T (p.Pro1445Leu) c.2672C>T (p.Pro891Leu) | gnomAD v4 |
| X | g.108687504C>A | CA517924424 | COL4A5 | c.4338C>A (p.Pro1446=) c.4320C>A (p.Pro1440=) n.832C>A c.134C>A c.4329C>A (p.Pro1443=) c.4014C>A (p.Pro1338=) c.1911C>A (p.Pro637=) c.4353C>A (p.Pro1451=) c.4344C>A (p.Pro1448=) c.4335C>A (p.Pro1445=) c.2673C>A (p.Pro891=) | |
| X | g.108687504C= | CA2450719215 | COL4A5 | c.4338C= (p.Pro1446=) c.4320C= (p.Pro1440=) n.832C= c.134C= c.4329C= (p.Pro1443=) c.4014C= (p.Pro1338=) c.1911C= (p.Pro637=) c.4353C= (p.Pro1451=) c.4344C= (p.Pro1448=) c.4335C= (p.Pro1445=) c.2673C= (p.Pro891=) | |
| X | g.108687504C>G | CA517924425 | COL4A5 | c.4338C>G (p.Pro1446=) c.4320C>G (p.Pro1440=) n.832C>G c.134C>G c.4329C>G (p.Pro1443=) c.4014C>G (p.Pro1338=) c.1911C>G (p.Pro637=) c.4353C>G (p.Pro1451=) c.4344C>G (p.Pro1448=) c.4335C>G (p.Pro1445=) c.2673C>G (p.Pro891=) | |
| X | g.108687504C>T | CA517924426 | COL4A5 | c.4338C>T (p.Pro1446=) c.4320C>T (p.Pro1440=) n.832C>T c.134C>T c.4329C>T (p.Pro1443=) c.4014C>T (p.Pro1338=) c.1911C>T (p.Pro637=) c.4353C>T (p.Pro1451=) c.4344C>T (p.Pro1448=) c.4335C>T (p.Pro1445=) c.2673C>T (p.Pro891=) | ClinVar dbSNP gnomAD v4 |
| X | g.108687505C>A | CA413853980 | COL4A5 | c.4339C>A (p.Pro1447Thr) c.4321C>A (p.Pro1441Thr) n.833C>A c.135C>A c.4330C>A (p.Pro1444Thr) c.4015C>A (p.Pro1339Thr) c.1912C>A (p.Pro638Thr) c.4354C>A (p.Pro1452Thr) c.4345C>A (p.Pro1449Thr) c.4336C>A (p.Pro1446Thr) c.2674C>A (p.Pro892Thr) | |
| X | g.108687505C= | CA2450719216 | COL4A5 | c.4339C= (p.Pro1447=) c.4321C= (p.Pro1441=) n.833C= c.135C= c.4330C= (p.Pro1444=) c.4015C= (p.Pro1339=) c.1912C= (p.Pro638=) c.4354C= (p.Pro1452=) c.4345C= (p.Pro1449=) c.4336C= (p.Pro1446=) c.2674C= (p.Pro892=) | |
| X | g.108687505C>G | CA413853981 | COL4A5 | c.4339C>G (p.Pro1447Ala) c.4321C>G (p.Pro1441Ala) n.833C>G c.135C>G c.4330C>G (p.Pro1444Ala) c.4015C>G (p.Pro1339Ala) c.1912C>G (p.Pro638Ala) c.4354C>G (p.Pro1452Ala) c.4345C>G (p.Pro1449Ala) c.4336C>G (p.Pro1446Ala) c.2674C>G (p.Pro892Ala) | |
| X | g.108687505C>T | CA10489346 | COL4A5 | c.4339C>T (p.Pro1447Ser) c.4321C>T (p.Pro1441Ser) n.833C>T c.135C>T c.4330C>T (p.Pro1444Ser) c.4015C>T (p.Pro1339Ser) c.1912C>T (p.Pro638Ser) c.4354C>T (p.Pro1452Ser) c.4345C>T (p.Pro1449Ser) c.4336C>T (p.Pro1446Ser) c.2674C>T (p.Pro892Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108687506C>A | CA413853982 | COL4A5 | c.4340C>A (p.Pro1447His) c.4322C>A (p.Pro1441His) n.834C>A c.136C>A c.4331C>A (p.Pro1444His) c.4016C>A (p.Pro1339His) c.1913C>A (p.Pro638His) c.4355C>A (p.Pro1452His) c.4346C>A (p.Pro1449His) c.4337C>A (p.Pro1446His) c.2675C>A (p.Pro892His) | |
| X | g.108687506C>G | CA413853983 | COL4A5 | c.4340C>G (p.Pro1447Arg) c.4322C>G (p.Pro1441Arg) n.834C>G c.136C>G c.4331C>G (p.Pro1444Arg) c.4016C>G (p.Pro1339Arg) c.1913C>G (p.Pro638Arg) c.4355C>G (p.Pro1452Arg) c.4346C>G (p.Pro1449Arg) c.4337C>G (p.Pro1446Arg) c.2675C>G (p.Pro892Arg) | |
| X | g.108687506C>T | CA413853984 | COL4A5 | c.4340C>T (p.Pro1447Leu) c.4322C>T (p.Pro1441Leu) n.834C>T c.136C>T c.4331C>T (p.Pro1444Leu) c.4016C>T (p.Pro1339Leu) c.1913C>T (p.Pro638Leu) c.4355C>T (p.Pro1452Leu) c.4346C>T (p.Pro1449Leu) c.4337C>T (p.Pro1446Leu) c.2675C>T (p.Pro892Leu) | |
| X | g.108687507del | CA2697544697 | COL4A5 | c.4341del (p.Gly1448ValfsTer?) c.4323del (p.Gly1442ValfsTer?) n.835del c.137del c.4332del (p.Gly1445ValfsTer?) c.4017del (p.Gly1340ValfsTer?) c.1914del (p.Gly639ValfsTer?) c.4356del (p.Gly1453ValfsTer?) c.4347del (p.Gly1450ValfsTer?) c.4338del (p.Gly1447ValfsTer?) c.2676del (p.Gly893ValfsTer?) | ClinVar |
| X | g.108687507T>A | CA517924431 | COL4A5 | c.4341T>A (p.Pro1447=) c.4323T>A (p.Pro1441=) n.835T>A c.137T>A c.4332T>A (p.Pro1444=) c.4017T>A (p.Pro1339=) c.1914T>A (p.Pro638=) c.4356T>A (p.Pro1452=) c.4347T>A (p.Pro1449=) c.4338T>A (p.Pro1446=) c.2676T>A (p.Pro892=) | |
| X | g.108687507T>C | CA517924432 | COL4A5 | c.4341T>C (p.Pro1447=) c.4323T>C (p.Pro1441=) n.835T>C c.137T>C c.4332T>C (p.Pro1444=) c.4017T>C (p.Pro1339=) c.1914T>C (p.Pro638=) c.4356T>C (p.Pro1452=) c.4347T>C (p.Pro1449=) c.4338T>C (p.Pro1446=) c.2676T>C (p.Pro892=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108687507T>G | CA517924430 | COL4A5 | c.4341T>G (p.Pro1447=) c.4323T>G (p.Pro1441=) n.835T>G c.137T>G c.4332T>G (p.Pro1444=) c.4017T>G (p.Pro1339=) c.1914T>G (p.Pro638=) c.4356T>G (p.Pro1452=) c.4347T>G (p.Pro1449=) c.4338T>G (p.Pro1446=) c.2676T>G (p.Pro892=) | |
| X | g.108687507T= | CA2450719218 | COL4A5 | c.4341T= (p.Pro1447=) c.4323T= (p.Pro1441=) n.835T= c.137T= c.4332T= (p.Pro1444=) c.4017T= (p.Pro1339=) c.1914T= (p.Pro638=) c.4356T= (p.Pro1452=) c.4347T= (p.Pro1449=) c.4338T= (p.Pro1446=) c.2676T= (p.Pro892=) | |
| X | g.108687507_108687534delinsTGGTCCAGATGGATTGCAAGGTCCCCCA | CA2450719217 | COL4A5 | c.4341_4368delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1447=) c.4323_4350delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1441=) n.835_862delinsTGGTCCAGATGGATTGCAAGGTCCCCCA c.137_164delinsTGGTCCAGATGGATTGCAAGGTCCCCCA c.4332_4359delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1444=) c.4017_4044delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1339=) c.1914_1941delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro638=) c.4356_4383delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1452=) c.4347_4374delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1449=) c.4338_4365delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1446=) c.2676_2703delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro892=) | |
| X | g.108687508G>A | CA413853985 | COL4A5 | c.4342G>A (p.Gly1448Ser) c.4324G>A (p.Gly1442Ser) n.836G>A c.138G>A c.4333G>A (p.Gly1445Ser) c.4018G>A (p.Gly1340Ser) c.1915G>A (p.Gly639Ser) c.4357G>A (p.Gly1453Ser) c.4348G>A (p.Gly1450Ser) c.4339G>A (p.Gly1447Ser) c.2677G>A (p.Gly893Ser) | |
| X | g.108687508G>C | CA259027 | COL4A5 | c.4342G>C (p.Gly1448Arg) c.4324G>C (p.Gly1442Arg) n.836G>C c.138G>C c.4333G>C (p.Gly1445Arg) c.4018G>C (p.Gly1340Arg) c.1915G>C (p.Gly639Arg) c.4357G>C (p.Gly1453Arg) c.4348G>C (p.Gly1450Arg) c.4339G>C (p.Gly1447Arg) c.2677G>C (p.Gly893Arg) | ClinVar dbSNP |
| X | g.108687508G= | CA2450719220 | COL4A5 | c.4342G= (p.Gly1448=) c.4324G= (p.Gly1442=) n.836G= c.138G= c.4333G= (p.Gly1445=) c.4018G= (p.Gly1340=) c.1915G= (p.Gly639=) c.4357G= (p.Gly1453=) c.4348G= (p.Gly1450=) c.4339G= (p.Gly1447=) c.2677G= (p.Gly893=) | |
| X | g.108687508G>T | CA413853986 | COL4A5 | c.4342G>T (p.Gly1448Cys) c.4324G>T (p.Gly1442Cys) n.836G>T c.138G>T c.4333G>T (p.Gly1445Cys) c.4018G>T (p.Gly1340Cys) c.1915G>T (p.Gly639Cys) c.4357G>T (p.Gly1453Cys) c.4348G>T (p.Gly1450Cys) c.4339G>T (p.Gly1447Cys) c.2677G>T (p.Gly893Cys) | ClinVar |
| X | g.108687509dup | CA2695235234 | COL4A5 | c.4343dup (p.Pro1449SerfsTer?) c.4325dup (p.Pro1443SerfsTer?) n.837dup c.139dup c.4334dup (p.Pro1446SerfsTer?) c.4019dup (p.Pro1341SerfsTer?) c.1916dup (p.Pro640SerfsTer?) c.4358dup (p.Pro1454SerfsTer?) c.4349dup (p.Pro1451SerfsTer?) c.4340dup (p.Pro1448SerfsTer?) c.2678dup (p.Pro894SerfsTer?) | |
| X | g.108687509del | CA2579677160 | COL4A5 | c.4343del (p.Gly1448ValfsTer?) c.4325del (p.Gly1442ValfsTer?) n.837del c.139del c.4334del (p.Gly1445ValfsTer?) c.4019del (p.Gly1340ValfsTer?) c.1916del (p.Gly639ValfsTer?) c.4358del (p.Gly1453ValfsTer?) c.4349del (p.Gly1450ValfsTer?) c.4340del (p.Gly1447ValfsTer?) c.2678del (p.Gly893ValfsTer?) | |
| X | g.108687513_108687539del | CA259030 | COL4A5 | c.4347_4373del (p.Asp1450_Pro1458del) c.4329_4355del (p.Asp1444_Pro1452del) n.841_867del c.143_169del c.4338_4364del (p.Asp1447_Pro1455del) c.4023_4049del (p.Asp1342_Pro1350del) c.1920_1946del (p.Asp641_Pro649del) c.4362_4388del (p.Asp1455_Pro1463del) c.4353_4379del (p.Asp1452_Pro1460del) c.4344_4370del (p.Asp1449_Pro1457del) c.2682_2708del (p.Asp895_Pro903del) | dbSNP |
| X | g.108687509G>A | CA259038 | COL4A5 | c.4343G>A (p.Gly1448Asp) c.4325G>A (p.Gly1442Asp) n.837G>A c.139G>A c.4334G>A (p.Gly1445Asp) c.4019G>A (p.Gly1340Asp) c.1916G>A (p.Gly639Asp) c.4358G>A (p.Gly1453Asp) c.4349G>A (p.Gly1450Asp) c.4340G>A (p.Gly1447Asp) c.2678G>A (p.Gly893Asp) | dbSNP |
| X | g.108687509G>C | CA259035 | COL4A5 | c.4343G>C (p.Gly1448Ala) c.4325G>C (p.Gly1442Ala) n.837G>C c.139G>C c.4334G>C (p.Gly1445Ala) c.4019G>C (p.Gly1340Ala) c.1916G>C (p.Gly639Ala) c.4358G>C (p.Gly1453Ala) c.4349G>C (p.Gly1450Ala) c.4340G>C (p.Gly1447Ala) c.2678G>C (p.Gly893Ala) | dbSNP |
| X | g.108687509G= | CA2450719222 | COL4A5 | c.4343G= (p.Gly1448=) c.4325G= (p.Gly1442=) n.837G= c.139G= c.4334G= (p.Gly1445=) c.4019G= (p.Gly1340=) c.1916G= (p.Gly639=) c.4358G= (p.Gly1453=) c.4349G= (p.Gly1450=) c.4340G= (p.Gly1447=) c.2678G= (p.Gly893=) | |
| X | g.108687509G>T | CA413853987 | COL4A5 | c.4343G>T (p.Gly1448Val) c.4325G>T (p.Gly1442Val) n.837G>T c.139G>T c.4334G>T (p.Gly1445Val) c.4019G>T (p.Gly1340Val) c.1916G>T (p.Gly639Val) c.4358G>T (p.Gly1453Val) c.4349G>T (p.Gly1450Val) c.4340G>T (p.Gly1447Val) c.2678G>T (p.Gly893Val) | |
| X | g.108687510T>A | CA517924437 | COL4A5 | c.4344T>A (p.Gly1448=) c.4326T>A (p.Gly1442=) n.838T>A c.140T>A c.4335T>A (p.Gly1445=) c.4020T>A (p.Gly1340=) c.1917T>A (p.Gly639=) c.4359T>A (p.Gly1453=) c.4350T>A (p.Gly1450=) c.4341T>A (p.Gly1447=) c.2679T>A (p.Gly893=) | |
| X | g.108687510T>C | CA10489347 | COL4A5 | c.4344T>C (p.Gly1448=) c.4326T>C (p.Gly1442=) n.838T>C c.140T>C c.4335T>C (p.Gly1445=) c.4020T>C (p.Gly1340=) c.1917T>C (p.Gly639=) c.4359T>C (p.Gly1453=) c.4350T>C (p.Gly1450=) c.4341T>C (p.Gly1447=) c.2679T>C (p.Gly893=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108687510T>G | CA517924439 | COL4A5 | c.4344T>G (p.Gly1448=) c.4326T>G (p.Gly1442=) n.838T>G c.140T>G c.4335T>G (p.Gly1445=) c.4020T>G (p.Gly1340=) c.1917T>G (p.Gly639=) c.4359T>G (p.Gly1453=) c.4350T>G (p.Gly1450=) c.4341T>G (p.Gly1447=) c.2679T>G (p.Gly893=) | |
| X | g.108687510T= | CA2450719224 | COL4A5 | c.4344T= (p.Gly1448=) c.4326T= (p.Gly1442=) n.838T= c.140T= c.4335T= (p.Gly1445=) c.4020T= (p.Gly1340=) c.1917T= (p.Gly639=) c.4359T= (p.Gly1453=) c.4350T= (p.Gly1450=) c.4341T= (p.Gly1447=) c.2679T= (p.Gly893=) | |
| X | g.108687510dup | CA259043 | COL4A5 | c.4344dup (p.Pro1449SerfsTer?) c.4326dup (p.Pro1443SerfsTer?) n.838dup c.140dup c.4335dup (p.Pro1446SerfsTer?) c.4020dup (p.Pro1341SerfsTer?) c.1917dup (p.Pro640SerfsTer?) c.4359dup (p.Pro1454SerfsTer?) c.4350dup (p.Pro1451SerfsTer?) c.4341dup (p.Pro1448SerfsTer?) c.2679dup (p.Pro894SerfsTer?) | dbSNP |
| X | g.108687511C>A | CA413853991 | COL4A5 | c.4345C>A (p.Pro1449Thr) c.4327C>A (p.Pro1443Thr) n.839C>A c.141C>A c.4336C>A (p.Pro1446Thr) c.4021C>A (p.Pro1341Thr) c.1918C>A (p.Pro640Thr) c.4360C>A (p.Pro1454Thr) c.4351C>A (p.Pro1451Thr) c.4342C>A (p.Pro1448Thr) c.2680C>A (p.Pro894Thr) | gnomAD v4 |
| X | g.108687511C= | CA2450719225 | COL4A5 | c.4345C= (p.Pro1449=) c.4327C= (p.Pro1443=) n.839C= c.141C= c.4336C= (p.Pro1446=) c.4021C= (p.Pro1341=) c.1918C= (p.Pro640=) c.4360C= (p.Pro1454=) c.4351C= (p.Pro1451=) c.4342C= (p.Pro1448=) c.2680C= (p.Pro894=) | |
| X | g.108687511C>G | CA413853992 | COL4A5 | c.4345C>G (p.Pro1449Ala) c.4327C>G (p.Pro1443Ala) n.839C>G c.141C>G c.4336C>G (p.Pro1446Ala) c.4021C>G (p.Pro1341Ala) c.1918C>G (p.Pro640Ala) c.4360C>G (p.Pro1454Ala) c.4351C>G (p.Pro1451Ala) c.4342C>G (p.Pro1448Ala) c.2680C>G (p.Pro894Ala) | |
| X | g.108687511C>T | CA413853993 | COL4A5 | c.4345C>T (p.Pro1449Ser) c.4327C>T (p.Pro1443Ser) n.839C>T c.141C>T c.4336C>T (p.Pro1446Ser) c.4021C>T (p.Pro1341Ser) c.1918C>T (p.Pro640Ser) c.4360C>T (p.Pro1454Ser) c.4351C>T (p.Pro1451Ser) c.4342C>T (p.Pro1448Ser) c.2680C>T (p.Pro894Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108687512C>A | CA413853996 | COL4A5 | c.4346C>A (p.Pro1449Gln) c.4328C>A (p.Pro1443Gln) n.840C>A c.142C>A c.4337C>A (p.Pro1446Gln) c.4022C>A (p.Pro1341Gln) c.1919C>A (p.Pro640Gln) c.4361C>A (p.Pro1454Gln) c.4352C>A (p.Pro1451Gln) c.4343C>A (p.Pro1448Gln) c.2681C>A (p.Pro894Gln) | |
| X | g.108687512C= | CA2450719227 | COL4A5 | c.4346C= (p.Pro1449=) c.4328C= (p.Pro1443=) n.840C= c.142C= c.4337C= (p.Pro1446=) c.4022C= (p.Pro1341=) c.1919C= (p.Pro640=) c.4361C= (p.Pro1454=) c.4352C= (p.Pro1451=) c.4343C= (p.Pro1448=) c.2681C= (p.Pro894=) | |
| X | g.108687512C>G | CA413853998 | COL4A5 | c.4346C>G (p.Pro1449Arg) c.4328C>G (p.Pro1443Arg) n.840C>G c.142C>G c.4337C>G (p.Pro1446Arg) c.4022C>G (p.Pro1341Arg) c.1919C>G (p.Pro640Arg) c.4361C>G (p.Pro1454Arg) c.4352C>G (p.Pro1451Arg) c.4343C>G (p.Pro1448Arg) c.2681C>G (p.Pro894Arg) | gnomAD v4 |
| X | g.108687512C>T | CA334059083 | COL4A5 | c.4346C>T (p.Pro1449Leu) c.4328C>T (p.Pro1443Leu) n.840C>T c.142C>T c.4337C>T (p.Pro1446Leu) c.4022C>T (p.Pro1341Leu) c.1919C>T (p.Pro640Leu) c.4361C>T (p.Pro1454Leu) c.4352C>T (p.Pro1451Leu) c.4343C>T (p.Pro1448Leu) c.2681C>T (p.Pro894Leu) | dbSNP |
| X | g.108687513A>C | CA517924440 | COL4A5 | c.4347A>C (p.Pro1449=) c.4329A>C (p.Pro1443=) n.841A>C c.143A>C c.4338A>C (p.Pro1446=) c.4023A>C (p.Pro1341=) c.1920A>C (p.Pro640=) c.4362A>C (p.Pro1454=) c.4353A>C (p.Pro1451=) c.4344A>C (p.Pro1448=) c.2682A>C (p.Pro894=) | |
| X | g.108687513A>G | CA517924442 | COL4A5 | c.4347A>G (p.Pro1449=) c.4329A>G (p.Pro1443=) n.841A>G c.143A>G c.4338A>G (p.Pro1446=) c.4023A>G (p.Pro1341=) c.1920A>G (p.Pro640=) c.4362A>G (p.Pro1454=) c.4353A>G (p.Pro1451=) c.4344A>G (p.Pro1448=) c.2682A>G (p.Pro894=) | |
| X | g.108687513A>T | CA517924444 | COL4A5 | c.4347A>T (p.Pro1449=) c.4329A>T (p.Pro1443=) n.841A>T c.143A>T c.4338A>T (p.Pro1446=) c.4023A>T (p.Pro1341=) c.1920A>T (p.Pro640=) c.4362A>T (p.Pro1454=) c.4353A>T (p.Pro1451=) c.4344A>T (p.Pro1448=) c.2682A>T (p.Pro894=) | |
| X | g.108687514G>A | CA413854002 | COL4A5 | c.4348G>A (p.Asp1450Asn) c.4330G>A (p.Asp1444Asn) n.842G>A c.144G>A c.4339G>A (p.Asp1447Asn) c.4024G>A (p.Asp1342Asn) c.1921G>A (p.Asp641Asn) c.4363G>A (p.Asp1455Asn) c.4354G>A (p.Asp1452Asn) c.4345G>A (p.Asp1449Asn) c.2683G>A (p.Asp895Asn) | |
| X | g.108687514G>C | CA413854003 | COL4A5 | c.4348G>C (p.Asp1450His) c.4330G>C (p.Asp1444His) n.842G>C c.144G>C c.4339G>C (p.Asp1447His) c.4024G>C (p.Asp1342His) c.1921G>C (p.Asp641His) c.4363G>C (p.Asp1455His) c.4354G>C (p.Asp1452His) c.4345G>C (p.Asp1449His) c.2683G>C (p.Asp895His) | |
| X | g.108687514G>T | CA413854005 | COL4A5 | c.4348G>T (p.Asp1450Tyr) c.4330G>T (p.Asp1444Tyr) n.842G>T c.144G>T c.4339G>T (p.Asp1447Tyr) c.4024G>T (p.Asp1342Tyr) c.1921G>T (p.Asp641Tyr) c.4363G>T (p.Asp1455Tyr) c.4354G>T (p.Asp1452Tyr) c.4345G>T (p.Asp1449Tyr) c.2683G>T (p.Asp895Tyr) | |
| X | g.108687515A>C | CA413854010 | COL4A5 | c.4349A>C (p.Asp1450Ala) c.4331A>C (p.Asp1444Ala) n.843A>C c.145A>C c.4340A>C (p.Asp1447Ala) c.4025A>C (p.Asp1342Ala) c.1922A>C (p.Asp641Ala) c.4364A>C (p.Asp1455Ala) c.4355A>C (p.Asp1452Ala) c.4346A>C (p.Asp1449Ala) c.2684A>C (p.Asp895Ala) | |
| X | g.108687515A>G | CA413854008 | COL4A5 | c.4349A>G (p.Asp1450Gly) c.4331A>G (p.Asp1444Gly) n.843A>G c.145A>G c.4340A>G (p.Asp1447Gly) c.4025A>G (p.Asp1342Gly) c.1922A>G (p.Asp641Gly) c.4364A>G (p.Asp1455Gly) c.4355A>G (p.Asp1452Gly) c.4346A>G (p.Asp1449Gly) c.2684A>G (p.Asp895Gly) | |
| X | g.108687515A>T | CA413854007 | COL4A5 | c.4349A>T (p.Asp1450Val) c.4331A>T (p.Asp1444Val) n.843A>T c.145A>T c.4340A>T (p.Asp1447Val) c.4025A>T (p.Asp1342Val) c.1922A>T (p.Asp641Val) c.4364A>T (p.Asp1455Val) c.4355A>T (p.Asp1452Val) c.4346A>T (p.Asp1449Val) c.2684A>T (p.Asp895Val) | |
| X | g.108687516T>A | CA413854014 | COL4A5 | c.4350T>A (p.Asp1450Glu) c.4332T>A (p.Asp1444Glu) n.844T>A c.146T>A c.4341T>A (p.Asp1447Glu) c.4026T>A (p.Asp1342Glu) c.1923T>A (p.Asp641Glu) c.4365T>A (p.Asp1455Glu) c.4356T>A (p.Asp1452Glu) c.4347T>A (p.Asp1449Glu) c.2685T>A (p.Asp895Glu) | |
| X | g.108687516T>C | CA517924448 | COL4A5 | c.4350T>C (p.Asp1450=) c.4332T>C (p.Asp1444=) n.844T>C c.146T>C c.4341T>C (p.Asp1447=) c.4026T>C (p.Asp1342=) c.1923T>C (p.Asp641=) c.4365T>C (p.Asp1455=) c.4356T>C (p.Asp1452=) c.4347T>C (p.Asp1449=) c.2685T>C (p.Asp895=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108687516T>G | CA413854012 | COL4A5 | c.4350T>G (p.Asp1450Glu) c.4332T>G (p.Asp1444Glu) n.844T>G c.146T>G c.4341T>G (p.Asp1447Glu) c.4026T>G (p.Asp1342Glu) c.1923T>G (p.Asp641Glu) c.4365T>G (p.Asp1455Glu) c.4356T>G (p.Asp1452Glu) c.4347T>G (p.Asp1449Glu) c.2685T>G (p.Asp895Glu) | |
| X | g.108687516T= | CA2450719228 | COL4A5 | c.4350T= (p.Asp1450=) c.4332T= (p.Asp1444=) n.844T= c.146T= c.4341T= (p.Asp1447=) c.4026T= (p.Asp1342=) c.1923T= (p.Asp641=) c.4365T= (p.Asp1455=) c.4356T= (p.Asp1452=) c.4347T= (p.Asp1449=) c.2685T= (p.Asp895=) | |
| X | g.108687517G>A | CA413854017 | COL4A5 | c.4351G>A (p.Gly1451Arg) c.4333G>A (p.Gly1445Arg) n.845G>A c.147G>A c.4342G>A (p.Gly1448Arg) c.4027G>A (p.Gly1343Arg) c.1924G>A (p.Gly642Arg) c.4366G>A (p.Gly1456Arg) c.4357G>A (p.Gly1453Arg) c.4348G>A (p.Gly1450Arg) c.2686G>A (p.Gly896Arg) | |
| X | g.108687517G>C | CA413854019 | COL4A5 | c.4351G>C (p.Gly1451Arg) c.4333G>C (p.Gly1445Arg) n.845G>C c.147G>C c.4342G>C (p.Gly1448Arg) c.4027G>C (p.Gly1343Arg) c.1924G>C (p.Gly642Arg) c.4366G>C (p.Gly1456Arg) c.4357G>C (p.Gly1453Arg) c.4348G>C (p.Gly1450Arg) c.2686G>C (p.Gly896Arg) | |
| X | g.108687517G>T | CA413854020 | COL4A5 | c.4351G>T (p.Gly1451Ter) c.4333G>T (p.Gly1445Ter) n.845G>T c.147G>T c.4342G>T (p.Gly1448Ter) c.4027G>T (p.Gly1343Ter) c.1924G>T (p.Gly642Ter) c.4366G>T (p.Gly1456Ter) c.4357G>T (p.Gly1453Ter) c.4348G>T (p.Gly1450Ter) c.2686G>T (p.Gly896Ter) | |
| X | g.108687518G>A | CA413854022 | COL4A5 | c.4352G>A (p.Gly1451Glu) c.4334G>A (p.Gly1445Glu) n.846G>A c.148G>A c.4343G>A (p.Gly1448Glu) c.4028G>A (p.Gly1343Glu) c.1925G>A (p.Gly642Glu) c.4367G>A (p.Gly1456Glu) c.4358G>A (p.Gly1453Glu) c.4349G>A (p.Gly1450Glu) c.2687G>A (p.Gly896Glu) | ClinVar |
| X | g.108687518G>C | CA413854024 | COL4A5 | c.4352G>C (p.Gly1451Ala) c.4334G>C (p.Gly1445Ala) n.846G>C c.148G>C c.4343G>C (p.Gly1448Ala) c.4028G>C (p.Gly1343Ala) c.1925G>C (p.Gly642Ala) c.4367G>C (p.Gly1456Ala) c.4358G>C (p.Gly1453Ala) c.4349G>C (p.Gly1450Ala) c.2687G>C (p.Gly896Ala) | |
| X | g.108687518G>T | CA413854026 | COL4A5 | c.4352G>T (p.Gly1451Val) c.4334G>T (p.Gly1445Val) n.846G>T c.148G>T c.4343G>T (p.Gly1448Val) c.4028G>T (p.Gly1343Val) c.1925G>T (p.Gly642Val) c.4367G>T (p.Gly1456Val) c.4358G>T (p.Gly1453Val) c.4349G>T (p.Gly1450Val) c.2687G>T (p.Gly896Val) | |
| X | g.108687519A= | CA2450719234 | COL4A5 | c.4353A= (p.Gly1451=) c.4335A= (p.Gly1445=) n.847A= c.149A= c.4344A= (p.Gly1448=) c.4029A= (p.Gly1343=) c.1926A= (p.Gly642=) c.4368A= (p.Gly1456=) c.4359A= (p.Gly1453=) c.4350A= (p.Gly1450=) c.2688A= (p.Gly896=) | |
| X | g.108687519A>C | CA517924453 | COL4A5 | c.4353A>C (p.Gly1451=) c.4335A>C (p.Gly1445=) n.847A>C c.149A>C c.4344A>C (p.Gly1448=) c.4029A>C (p.Gly1343=) c.1926A>C (p.Gly642=) c.4368A>C (p.Gly1456=) c.4359A>C (p.Gly1453=) c.4350A>C (p.Gly1450=) c.2688A>C (p.Gly896=) | |
| X | g.108687519A>G | CA517924455 | COL4A5 | c.4353A>G (p.Gly1451=) c.4335A>G (p.Gly1445=) n.847A>G c.149A>G c.4344A>G (p.Gly1448=) c.4029A>G (p.Gly1343=) c.1926A>G (p.Gly642=) c.4368A>G (p.Gly1456=) c.4359A>G (p.Gly1453=) c.4350A>G (p.Gly1450=) c.2688A>G (p.Gly896=) | ClinVar gnomAD v4 |
| X | g.108687519A>T | CA10489348 | COL4A5 | c.4353A>T (p.Gly1451=) c.4335A>T (p.Gly1445=) n.847A>T c.149A>T c.4344A>T (p.Gly1448=) c.4029A>T (p.Gly1343=) c.1926A>T (p.Gly642=) c.4368A>T (p.Gly1456=) c.4359A>T (p.Gly1453=) c.4350A>T (p.Gly1450=) c.2688A>T (p.Gly896=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108687520T>A | CA413854029 | COL4A5 | c.4354T>A (p.Leu1452Met) c.4336T>A (p.Leu1446Met) n.848T>A c.150T>A c.4345T>A (p.Leu1449Met) c.4030T>A (p.Leu1344Met) c.1927T>A (p.Leu643Met) c.4369T>A (p.Leu1457Met) c.4360T>A (p.Leu1454Met) c.4351T>A (p.Leu1451Met) c.2689T>A (p.Leu897Met) | |
| X | g.108687520T>C | CA517924457 | COL4A5 | c.4354T>C (p.Leu1452=) c.4336T>C (p.Leu1446=) n.848T>C c.150T>C c.4345T>C (p.Leu1449=) c.4030T>C (p.Leu1344=) c.1927T>C (p.Leu643=) c.4369T>C (p.Leu1457=) c.4360T>C (p.Leu1454=) c.4351T>C (p.Leu1451=) c.2689T>C (p.Leu897=) | |
| X | g.108687520T>G | CA413854031 | COL4A5 | c.4354T>G (p.Leu1452Val) c.4336T>G (p.Leu1446Val) n.848T>G c.150T>G c.4345T>G (p.Leu1449Val) c.4030T>G (p.Leu1344Val) c.1927T>G (p.Leu643Val) c.4369T>G (p.Leu1457Val) c.4360T>G (p.Leu1454Val) c.4351T>G (p.Leu1451Val) c.2689T>G (p.Leu897Val) | dbSNP gnomAD v4 |
| X | g.108687520T= | CA2450719235 | COL4A5 | c.4354T= (p.Leu1452=) c.4336T= (p.Leu1446=) n.848T= c.150T= c.4345T= (p.Leu1449=) c.4030T= (p.Leu1344=) c.1927T= (p.Leu643=) c.4369T= (p.Leu1457=) c.4360T= (p.Leu1454=) c.4351T= (p.Leu1451=) c.2689T= (p.Leu897=) | |
| X | g.108687521T>A | CA413854033 | COL4A5 | c.4355T>A (p.Leu1452Ter) c.4337T>A (p.Leu1446Ter) n.849T>A c.151T>A c.4346T>A (p.Leu1449Ter) c.4031T>A (p.Leu1344Ter) c.1928T>A (p.Leu643Ter) c.4370T>A (p.Leu1457Ter) c.4361T>A (p.Leu1454Ter) c.4352T>A (p.Leu1451Ter) c.2690T>A (p.Leu897Ter) | |
| X | g.108687521T>C | CA413854035 | COL4A5 | c.4355T>C (p.Leu1452Ser) c.4337T>C (p.Leu1446Ser) n.849T>C c.151T>C c.4346T>C (p.Leu1449Ser) c.4031T>C (p.Leu1344Ser) c.1928T>C (p.Leu643Ser) c.4370T>C (p.Leu1457Ser) c.4361T>C (p.Leu1454Ser) c.4352T>C (p.Leu1451Ser) c.2690T>C (p.Leu897Ser) | gnomAD v4 |
| X | g.108687521T>G | CA413854038 | COL4A5 | c.4355T>G (p.Leu1452Trp) c.4337T>G (p.Leu1446Trp) n.849T>G c.151T>G c.4346T>G (p.Leu1449Trp) c.4031T>G (p.Leu1344Trp) c.1928T>G (p.Leu643Trp) c.4370T>G (p.Leu1457Trp) c.4361T>G (p.Leu1454Trp) c.4352T>G (p.Leu1451Trp) c.2690T>G (p.Leu897Trp) | |
| X | g.108687522G>A | CA517924461 | COL4A5 | c.4356G>A (p.Leu1452=) c.4338G>A (p.Leu1446=) n.850G>A c.152G>A c.4347G>A (p.Leu1449=) c.4032G>A (p.Leu1344=) c.1929G>A (p.Leu643=) c.4371G>A (p.Leu1457=) c.4362G>A (p.Leu1454=) c.4353G>A (p.Leu1451=) c.2691G>A (p.Leu897=) | |
| X | g.108687522G>C | CA413854041 | COL4A5 | c.4356G>C (p.Leu1452Phe) c.4338G>C (p.Leu1446Phe) n.850G>C c.152G>C c.4347G>C (p.Leu1449Phe) c.4032G>C (p.Leu1344Phe) c.1929G>C (p.Leu643Phe) c.4371G>C (p.Leu1457Phe) c.4362G>C (p.Leu1454Phe) c.4353G>C (p.Leu1451Phe) c.2691G>C (p.Leu897Phe) | |
| X | g.108687522G>T | CA413854040 | COL4A5 | c.4356G>T (p.Leu1452Phe) c.4338G>T (p.Leu1446Phe) n.850G>T c.152G>T c.4347G>T (p.Leu1449Phe) c.4032G>T (p.Leu1344Phe) c.1929G>T (p.Leu643Phe) c.4371G>T (p.Leu1457Phe) c.4362G>T (p.Leu1454Phe) c.4353G>T (p.Leu1451Phe) c.2691G>T (p.Leu897Phe) | |
| X | g.108687523C>A | CA413854044 | COL4A5 | c.4357C>A (p.Gln1453Lys) c.4339C>A (p.Gln1447Lys) n.851C>A c.153C>A c.4348C>A (p.Gln1450Lys) c.4033C>A (p.Gln1345Lys) c.1930C>A (p.Gln644Lys) c.4372C>A (p.Gln1458Lys) c.4363C>A (p.Gln1455Lys) c.4354C>A (p.Gln1452Lys) c.2692C>A (p.Gln898Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108687523C= | CA2450719237 | COL4A5 | c.4357C= (p.Gln1453=) c.4339C= (p.Gln1447=) n.851C= c.153C= c.4348C= (p.Gln1450=) c.4033C= (p.Gln1345=) c.1930C= (p.Gln644=) c.4372C= (p.Gln1458=) c.4363C= (p.Gln1455=) c.4354C= (p.Gln1452=) c.2692C= (p.Gln898=) | |
| X | g.108687523C>G | CA413854046 | COL4A5 | c.4357C>G (p.Gln1453Glu) c.4339C>G (p.Gln1447Glu) n.851C>G c.153C>G c.4348C>G (p.Gln1450Glu) c.4033C>G (p.Gln1345Glu) c.1930C>G (p.Gln644Glu) c.4372C>G (p.Gln1458Glu) c.4363C>G (p.Gln1455Glu) c.4354C>G (p.Gln1452Glu) c.2692C>G (p.Gln898Glu) | |
| X | g.108687523C>T | CA413854047 | COL4A5 | c.4357C>T (p.Gln1453Ter) c.4339C>T (p.Gln1447Ter) n.851C>T c.153C>T c.4348C>T (p.Gln1450Ter) c.4033C>T (p.Gln1345Ter) c.1930C>T (p.Gln644Ter) c.4372C>T (p.Gln1458Ter) c.4363C>T (p.Gln1455Ter) c.4354C>T (p.Gln1452Ter) c.2692C>T (p.Gln898Ter) | |
| X | g.108687524A>C | CA413854048 | COL4A5 | c.4358A>C (p.Gln1453Pro) c.4340A>C (p.Gln1447Pro) n.852A>C c.154A>C c.4349A>C (p.Gln1450Pro) c.4034A>C (p.Gln1345Pro) c.1931A>C (p.Gln644Pro) c.4373A>C (p.Gln1458Pro) c.4364A>C (p.Gln1455Pro) c.4355A>C (p.Gln1452Pro) c.2693A>C (p.Gln898Pro) | |
| X | g.108687524A>G | CA413854049 | COL4A5 | c.4358A>G (p.Gln1453Arg) c.4340A>G (p.Gln1447Arg) n.852A>G c.154A>G c.4349A>G (p.Gln1450Arg) c.4034A>G (p.Gln1345Arg) c.1931A>G (p.Gln644Arg) c.4373A>G (p.Gln1458Arg) c.4364A>G (p.Gln1455Arg) c.4355A>G (p.Gln1452Arg) c.2693A>G (p.Gln898Arg) | |
| X | g.108687524A>T | CA413854052 | COL4A5 | c.4358A>T (p.Gln1453Leu) c.4340A>T (p.Gln1447Leu) n.852A>T c.154A>T c.4349A>T (p.Gln1450Leu) c.4034A>T (p.Gln1345Leu) c.1931A>T (p.Gln644Leu) c.4373A>T (p.Gln1458Leu) c.4364A>T (p.Gln1455Leu) c.4355A>T (p.Gln1452Leu) c.2693A>T (p.Gln898Leu) | |
| X | g.108687525A>C | CA413854054 | COL4A5 | c.4359A>C (p.Gln1453His) c.4341A>C (p.Gln1447His) n.853A>C c.155A>C c.4350A>C (p.Gln1450His) c.4035A>C (p.Gln1345His) c.1932A>C (p.Gln644His) c.4374A>C (p.Gln1458His) c.4365A>C (p.Gln1455His) c.4356A>C (p.Gln1452His) c.2694A>C (p.Gln898His) | |
| X | g.108687525A>G | CA517924465 | COL4A5 | c.4359A>G (p.Gln1453=) c.4341A>G (p.Gln1447=) n.853A>G c.155A>G c.4350A>G (p.Gln1450=) c.4035A>G (p.Gln1345=) c.1932A>G (p.Gln644=) c.4374A>G (p.Gln1458=) c.4365A>G (p.Gln1455=) c.4356A>G (p.Gln1452=) c.2694A>G (p.Gln898=) | |
| X | g.108687525A>T | CA413854056 | COL4A5 | c.4359A>T (p.Gln1453His) c.4341A>T (p.Gln1447His) n.853A>T c.155A>T c.4350A>T (p.Gln1450His) c.4035A>T (p.Gln1345His) c.1932A>T (p.Gln644His) c.4374A>T (p.Gln1458His) c.4365A>T (p.Gln1455His) c.4356A>T (p.Gln1452His) c.2694A>T (p.Gln898His) | |
| X | g.108687526G>A | CA259040 | COL4A5 | c.4360G>A (p.Gly1454Ser) c.4342G>A (p.Gly1448Ser) n.854G>A c.156G>A c.4351G>A (p.Gly1451Ser) c.4036G>A (p.Gly1346Ser) c.1933G>A (p.Gly645Ser) c.4375G>A (p.Gly1459Ser) c.4366G>A (p.Gly1456Ser) c.4357G>A (p.Gly1453Ser) c.2695G>A (p.Gly899Ser) | ClinVar dbSNP |
| X | g.108687526G>C | CA413854059 | COL4A5 | c.4360G>C (p.Gly1454Arg) c.4342G>C (p.Gly1448Arg) n.854G>C c.156G>C c.4351G>C (p.Gly1451Arg) c.4036G>C (p.Gly1346Arg) c.1933G>C (p.Gly645Arg) c.4375G>C (p.Gly1459Arg) c.4366G>C (p.Gly1456Arg) c.4357G>C (p.Gly1453Arg) c.2695G>C (p.Gly899Arg) | ClinVar gnomAD v4 |
| X | g.108687526G= | CA2450719238 | COL4A5 | c.4360G= (p.Gly1454=) c.4342G= (p.Gly1448=) n.854G= c.156G= c.4351G= (p.Gly1451=) c.4036G= (p.Gly1346=) c.1933G= (p.Gly645=) c.4375G= (p.Gly1459=) c.4366G= (p.Gly1456=) c.4357G= (p.Gly1453=) c.2695G= (p.Gly899=) | |
| X | g.108687526G>T | CA413854062 | COL4A5 | c.4360G>T (p.Gly1454Cys) c.4342G>T (p.Gly1448Cys) n.854G>T c.156G>T c.4351G>T (p.Gly1451Cys) c.4036G>T (p.Gly1346Cys) c.1933G>T (p.Gly645Cys) c.4375G>T (p.Gly1459Cys) c.4366G>T (p.Gly1456Cys) c.4357G>T (p.Gly1453Cys) c.2695G>T (p.Gly899Cys) | |
| X | g.108687526_108687527delinsAA | CA645617759 | COL4A5 | c.4360_4361delinsAA (p.Gly1454Asn) c.4342_4343delinsAA (p.Gly1448Asn) n.854_855delinsAA c.156_157delinsAA c.4351_4352delinsAA (p.Gly1451Asn) c.4036_4037delinsAA (p.Gly1346Asn) c.1933_1934delinsAA (p.Gly645Asn) c.4375_4376delinsAA (p.Gly1459Asn) c.4366_4367delinsAA (p.Gly1456Asn) c.4357_4358delinsAA (p.Gly1453Asn) c.2695_2696delinsAA (p.Gly899Asn) | COSMIC COSMIC |