| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108685980_108685983delinsAGAT | CA2450718727 | COL4A5 | c.4217-51_4217-48delinsAGAT (n.4217-51_4217-48delinsAGAT) c.4199-51_4199-48delinsAGAT (n.4199-51_4199-48delinsAGAT) n.711-51_711-48delinsAGAT n.620-51_620-48delinsAGAT c.13-51_13-48delinsAGAT c.4208-51_4208-48delinsAGAT (n.4208-51_4208-48delinsAGAT) c.3893-51_3893-48delinsAGAT (n.3893-51_3893-48delinsAGAT) c.1790-51_1790-48delinsAGAT (n.1790-51_1790-48delinsAGAT) c.4232-51_4232-48delinsAGAT (n.4232-51_4232-48delinsAGAT) c.4223-51_4223-48delinsAGAT (n.4223-51_4223-48delinsAGAT) c.4214-51_4214-48delinsAGAT (n.4214-51_4214-48delinsAGAT) c.2552-51_2552-48delinsAGAT (n.2552-51_2552-48delinsAGAT) | |
| X | g.108685981G>C | CA643637121 | COL4A5 | c.4217-50G>C (n.4217-50G>C) c.4199-50G>C (n.4199-50G>C) n.711-50G>C n.620-50G>C c.13-50G>C c.4208-50G>C (n.4208-50G>C) c.3893-50G>C (n.3893-50G>C) c.1790-50G>C (n.1790-50G>C) c.4232-50G>C (n.4232-50G>C) c.4223-50G>C (n.4223-50G>C) c.4214-50G>C (n.4214-50G>C) c.2552-50G>C (n.2552-50G>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108685981G= | CA2450718728 | COL4A5 | c.4217-50G= (n.4217-50G=) c.4199-50G= (n.4199-50G=) n.711-50G= n.620-50G= c.13-50G= c.4208-50G= (n.4208-50G=) c.3893-50G= (n.3893-50G=) c.1790-50G= (n.1790-50G=) c.4232-50G= (n.4232-50G=) c.4223-50G= (n.4223-50G=) c.4214-50G= (n.4214-50G=) c.2552-50G= (n.2552-50G=) | |
| X | g.108685982_108685984del | CA10489317 | COL4A5 | c.4217-49_4217-47del (n.4217-49_4217-47del) c.4199-49_4199-47del (n.4199-49_4199-47del) n.711-49_711-47del n.620-49_620-47del c.13-49_13-47del c.4208-49_4208-47del (n.4208-49_4208-47del) c.3893-49_3893-47del (n.3893-49_3893-47del) c.1790-49_1790-47del (n.1790-49_1790-47del) c.4232-49_4232-47del (n.4232-49_4232-47del) c.4223-49_4223-47del (n.4223-49_4223-47del) c.4214-49_4214-47del (n.4214-49_4214-47del) c.2552-49_2552-47del (n.2552-49_2552-47del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108685982A>T | CA2822894293 | COL4A5 | c.4217-49A>T (n.4217-49A>T) c.4199-49A>T (n.4199-49A>T) n.711-49A>T n.620-49A>T c.13-49A>T c.4208-49A>T (n.4208-49A>T) c.3893-49A>T (n.3893-49A>T) c.1790-49A>T (n.1790-49A>T) c.4232-49A>T (n.4232-49A>T) c.4223-49A>T (n.4223-49A>T) c.4214-49A>T (n.4214-49A>T) c.2552-49A>T (n.2552-49A>T) | |
| X | g.108685984G>A | CA869824091 | COL4A5 | c.4217-47G>A (n.4217-47G>A) c.4199-47G>A (n.4199-47G>A) n.711-47G>A n.620-47G>A c.13-47G>A c.4208-47G>A (n.4208-47G>A) c.3893-47G>A (n.3893-47G>A) c.1790-47G>A (n.1790-47G>A) c.4232-47G>A (n.4232-47G>A) c.4223-47G>A (n.4223-47G>A) c.4214-47G>A (n.4214-47G>A) c.2552-47G>A (n.2552-47G>A) | dbSNP gnomAD v4 |
| X | g.108685984G>C | CA10489318 | COL4A5 | c.4217-47G>C (n.4217-47G>C) c.4199-47G>C (n.4199-47G>C) n.711-47G>C n.620-47G>C c.13-47G>C c.4208-47G>C (n.4208-47G>C) c.3893-47G>C (n.3893-47G>C) c.1790-47G>C (n.1790-47G>C) c.4232-47G>C (n.4232-47G>C) c.4223-47G>C (n.4223-47G>C) c.4214-47G>C (n.4214-47G>C) c.2552-47G>C (n.2552-47G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108685984G= | CA2450718729 | COL4A5 | c.4217-47G= (n.4217-47G=) c.4199-47G= (n.4199-47G=) n.711-47G= n.620-47G= c.13-47G= c.4208-47G= (n.4208-47G=) c.3893-47G= (n.3893-47G=) c.1790-47G= (n.1790-47G=) c.4232-47G= (n.4232-47G=) c.4223-47G= (n.4223-47G=) c.4214-47G= (n.4214-47G=) c.2552-47G= (n.2552-47G=) | |
| X | g.108685985T>C | CA643637122 | COL4A5 | c.4217-46T>C (n.4217-46T>C) c.4199-46T>C (n.4199-46T>C) n.711-46T>C n.620-46T>C c.13-46T>C c.4208-46T>C (n.4208-46T>C) c.3893-46T>C (n.3893-46T>C) c.1790-46T>C (n.1790-46T>C) c.4232-46T>C (n.4232-46T>C) c.4223-46T>C (n.4223-46T>C) c.4214-46T>C (n.4214-46T>C) c.2552-46T>C (n.2552-46T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108685985T= | CA2450718730 | COL4A5 | c.4217-46T= (n.4217-46T=) c.4199-46T= (n.4199-46T=) n.711-46T= n.620-46T= c.13-46T= c.4208-46T= (n.4208-46T=) c.3893-46T= (n.3893-46T=) c.1790-46T= (n.1790-46T=) c.4232-46T= (n.4232-46T=) c.4223-46T= (n.4223-46T=) c.4214-46T= (n.4214-46T=) c.2552-46T= (n.2552-46T=) | |
| X | g.108685990dup | CA2579677117 | COL4A5 | c.4217-41dup (n.4217-41dup) c.4199-41dup (n.4199-41dup) n.711-41dup n.620-41dup c.13-41dup c.4208-41dup (n.4208-41dup) c.3893-41dup (n.3893-41dup) c.1790-41dup (n.1790-41dup) c.4232-41dup (n.4232-41dup) c.4223-41dup (n.4223-41dup) c.4214-41dup (n.4214-41dup) c.2552-41dup (n.2552-41dup) | gnomAD v4 |
| X | g.108685988A= | CA2450718731 | COL4A5 | c.4217-43A= (n.4217-43A=) c.4199-43A= (n.4199-43A=) n.711-43A= n.620-43A= c.13-43A= c.4208-43A= (n.4208-43A=) c.3893-43A= (n.3893-43A=) c.1790-43A= (n.1790-43A=) c.4232-43A= (n.4232-43A=) c.4223-43A= (n.4223-43A=) c.4214-43A= (n.4214-43A=) c.2552-43A= (n.2552-43A=) | |
| X | g.108685988A>T | CA2450718732 | COL4A5 | c.4217-43A>T (n.4217-43A>T) c.4199-43A>T (n.4199-43A>T) n.711-43A>T n.620-43A>T c.13-43A>T c.4208-43A>T (n.4208-43A>T) c.3893-43A>T (n.3893-43A>T) c.1790-43A>T (n.1790-43A>T) c.4232-43A>T (n.4232-43A>T) c.4223-43A>T (n.4223-43A>T) c.4214-43A>T (n.4214-43A>T) c.2552-43A>T (n.2552-43A>T) | dbSNP |
| X | g.108685992A= | CA2450718733 | COL4A5 | c.4217-39A= (n.4217-39A=) c.4199-39A= (n.4199-39A=) n.711-39A= n.620-39A= c.13-39A= c.4208-39A= (n.4208-39A=) c.3893-39A= (n.3893-39A=) c.1790-39A= (n.1790-39A=) c.4232-39A= (n.4232-39A=) c.4223-39A= (n.4223-39A=) c.4214-39A= (n.4214-39A=) c.2552-39A= (n.2552-39A=) | |
| X | g.108685992A>G | CA2450718734 | COL4A5 | c.4217-39A>G (n.4217-39A>G) c.4199-39A>G (n.4199-39A>G) n.711-39A>G n.620-39A>G c.13-39A>G c.4208-39A>G (n.4208-39A>G) c.3893-39A>G (n.3893-39A>G) c.1790-39A>G (n.1790-39A>G) c.4232-39A>G (n.4232-39A>G) c.4223-39A>G (n.4223-39A>G) c.4214-39A>G (n.4214-39A>G) c.2552-39A>G (n.2552-39A>G) | dbSNP |
| X | g.108685992A>T | CA2579677118 | COL4A5 | c.4217-39A>T (n.4217-39A>T) c.4199-39A>T (n.4199-39A>T) n.711-39A>T n.620-39A>T c.13-39A>T c.4208-39A>T (n.4208-39A>T) c.3893-39A>T (n.3893-39A>T) c.1790-39A>T (n.1790-39A>T) c.4232-39A>T (n.4232-39A>T) c.4223-39A>T (n.4223-39A>T) c.4214-39A>T (n.4214-39A>T) c.2552-39A>T (n.2552-39A>T) | |
| X | g.108685993T>C | CA2552558366 | COL4A5 | c.4217-38T>C (n.4217-38T>C) c.4199-38T>C (n.4199-38T>C) n.711-38T>C n.620-38T>C c.13-38T>C c.4208-38T>C (n.4208-38T>C) c.3893-38T>C (n.3893-38T>C) c.1790-38T>C (n.1790-38T>C) c.4232-38T>C (n.4232-38T>C) c.4223-38T>C (n.4223-38T>C) c.4214-38T>C (n.4214-38T>C) c.2552-38T>C (n.2552-38T>C) | gnomAD v4 |
| X | g.108685994T>C | CA334058262 | COL4A5 | c.4217-37T>C (n.4217-37T>C) c.4199-37T>C (n.4199-37T>C) n.711-37T>C n.620-37T>C c.13-37T>C c.4208-37T>C (n.4208-37T>C) c.3893-37T>C (n.3893-37T>C) c.1790-37T>C (n.1790-37T>C) c.4232-37T>C (n.4232-37T>C) c.4223-37T>C (n.4223-37T>C) c.4214-37T>C (n.4214-37T>C) c.2552-37T>C (n.2552-37T>C) | dbSNP gnomAD v4 |
| X | g.108685994T= | CA2450718735 | COL4A5 | c.4217-37T= (n.4217-37T=) c.4199-37T= (n.4199-37T=) n.711-37T= n.620-37T= c.13-37T= c.4208-37T= (n.4208-37T=) c.3893-37T= (n.3893-37T=) c.1790-37T= (n.1790-37T=) c.4232-37T= (n.4232-37T=) c.4223-37T= (n.4223-37T=) c.4214-37T= (n.4214-37T=) c.2552-37T= (n.2552-37T=) | |
| X | g.108685995C>A | CA2694414706 | COL4A5 | c.4217-36C>A (n.4217-36C>A) c.4199-36C>A (n.4199-36C>A) n.711-36C>A n.620-36C>A c.13-36C>A c.4208-36C>A (n.4208-36C>A) c.3893-36C>A (n.3893-36C>A) c.1790-36C>A (n.1790-36C>A) c.4232-36C>A (n.4232-36C>A) c.4223-36C>A (n.4223-36C>A) c.4214-36C>A (n.4214-36C>A) c.2552-36C>A (n.2552-36C>A) | gnomAD v4 |
| X | g.108685995C= | CA2450718736 | COL4A5 | c.4217-36C= (n.4217-36C=) c.4199-36C= (n.4199-36C=) n.711-36C= n.620-36C= c.13-36C= c.4208-36C= (n.4208-36C=) c.3893-36C= (n.3893-36C=) c.1790-36C= (n.1790-36C=) c.4232-36C= (n.4232-36C=) c.4223-36C= (n.4223-36C=) c.4214-36C= (n.4214-36C=) c.2552-36C= (n.2552-36C=) | |
| X | g.108685995C>G | CA2531947016 | COL4A5 | c.4217-36C>G (n.4217-36C>G) c.4199-36C>G (n.4199-36C>G) n.711-36C>G n.620-36C>G c.13-36C>G c.4208-36C>G (n.4208-36C>G) c.3893-36C>G (n.3893-36C>G) c.1790-36C>G (n.1790-36C>G) c.4232-36C>G (n.4232-36C>G) c.4223-36C>G (n.4223-36C>G) c.4214-36C>G (n.4214-36C>G) c.2552-36C>G (n.2552-36C>G) | gnomAD v4 |
| X | g.108685995C>T | CA2450718737 | COL4A5 | c.4217-36C>T (n.4217-36C>T) c.4199-36C>T (n.4199-36C>T) n.711-36C>T n.620-36C>T c.13-36C>T c.4208-36C>T (n.4208-36C>T) c.3893-36C>T (n.3893-36C>T) c.1790-36C>T (n.1790-36C>T) c.4232-36C>T (n.4232-36C>T) c.4223-36C>T (n.4223-36C>T) c.4214-36C>T (n.4214-36C>T) c.2552-36C>T (n.2552-36C>T) | dbSNP |
| X | g.108685997A= | CA2450718738 | COL4A5 | c.4217-34A= (n.4217-34A=) c.4199-34A= (n.4199-34A=) n.711-34A= n.620-34A= c.13-34A= c.4208-34A= (n.4208-34A=) c.3893-34A= (n.3893-34A=) c.1790-34A= (n.1790-34A=) c.4232-34A= (n.4232-34A=) c.4223-34A= (n.4223-34A=) c.4214-34A= (n.4214-34A=) c.2552-34A= (n.2552-34A=) | |
| X | g.108685997A>G | CA334058284 | COL4A5 | c.4217-34A>G (n.4217-34A>G) c.4199-34A>G (n.4199-34A>G) n.711-34A>G n.620-34A>G c.13-34A>G c.4208-34A>G (n.4208-34A>G) c.3893-34A>G (n.3893-34A>G) c.1790-34A>G (n.1790-34A>G) c.4232-34A>G (n.4232-34A>G) c.4223-34A>G (n.4223-34A>G) c.4214-34A>G (n.4214-34A>G) c.2552-34A>G (n.2552-34A>G) | dbSNP gnomAD v4 |
| X | g.108685998C>A | CA2579677119 | COL4A5 | c.4217-33C>A (n.4217-33C>A) c.4199-33C>A (n.4199-33C>A) n.711-33C>A n.620-33C>A c.13-33C>A c.4208-33C>A (n.4208-33C>A) c.3893-33C>A (n.3893-33C>A) c.1790-33C>A (n.1790-33C>A) c.4232-33C>A (n.4232-33C>A) c.4223-33C>A (n.4223-33C>A) c.4214-33C>A (n.4214-33C>A) c.2552-33C>A (n.2552-33C>A) | |
| X | g.108685998C= | CA2450718739 | COL4A5 | c.4217-33C= (n.4217-33C=) c.4199-33C= (n.4199-33C=) n.711-33C= n.620-33C= c.13-33C= c.4208-33C= (n.4208-33C=) c.3893-33C= (n.3893-33C=) c.1790-33C= (n.1790-33C=) c.4232-33C= (n.4232-33C=) c.4223-33C= (n.4223-33C=) c.4214-33C= (n.4214-33C=) c.2552-33C= (n.2552-33C=) | |
| X | g.108685998C>T | CA334058285 | COL4A5 | c.4217-33C>T (n.4217-33C>T) c.4199-33C>T (n.4199-33C>T) n.711-33C>T n.620-33C>T c.13-33C>T c.4208-33C>T (n.4208-33C>T) c.3893-33C>T (n.3893-33C>T) c.1790-33C>T (n.1790-33C>T) c.4232-33C>T (n.4232-33C>T) c.4223-33C>T (n.4223-33C>T) c.4214-33C>T (n.4214-33C>T) c.2552-33C>T (n.2552-33C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108685999T>C | CA10489319 | COL4A5 | c.4217-32T>C (n.4217-32T>C) c.4199-32T>C (n.4199-32T>C) n.711-32T>C n.620-32T>C c.13-32T>C c.4208-32T>C (n.4208-32T>C) c.3893-32T>C (n.3893-32T>C) c.1790-32T>C (n.1790-32T>C) c.4232-32T>C (n.4232-32T>C) c.4223-32T>C (n.4223-32T>C) c.4214-32T>C (n.4214-32T>C) c.2552-32T>C (n.2552-32T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108685999T= | CA2450718740 | COL4A5 | c.4217-32T= (n.4217-32T=) c.4199-32T= (n.4199-32T=) n.711-32T= n.620-32T= c.13-32T= c.4208-32T= (n.4208-32T=) c.3893-32T= (n.3893-32T=) c.1790-32T= (n.1790-32T=) c.4232-32T= (n.4232-32T=) c.4223-32T= (n.4223-32T=) c.4214-32T= (n.4214-32T=) c.2552-32T= (n.2552-32T=) | |
| X | g.108686000C>A | CA2694414707 | COL4A5 | c.4217-31C>A (n.4217-31C>A) c.4199-31C>A (n.4199-31C>A) n.711-31C>A n.620-31C>A c.13-31C>A c.4208-31C>A (n.4208-31C>A) c.3893-31C>A (n.3893-31C>A) c.1790-31C>A (n.1790-31C>A) c.4232-31C>A (n.4232-31C>A) c.4223-31C>A (n.4223-31C>A) c.4214-31C>A (n.4214-31C>A) c.2552-31C>A (n.2552-31C>A) | gnomAD v4 |
| X | g.108686000C= | CA2450718741 | COL4A5 | c.4217-31C= (n.4217-31C=) c.4199-31C= (n.4199-31C=) n.711-31C= n.620-31C= c.13-31C= c.4208-31C= (n.4208-31C=) c.3893-31C= (n.3893-31C=) c.1790-31C= (n.1790-31C=) c.4232-31C= (n.4232-31C=) c.4223-31C= (n.4223-31C=) c.4214-31C= (n.4214-31C=) c.2552-31C= (n.2552-31C=) | |
| X | g.108686000C>T | CA10489320 | COL4A5 | c.4217-31C>T (n.4217-31C>T) c.4199-31C>T (n.4199-31C>T) n.711-31C>T n.620-31C>T c.13-31C>T c.4208-31C>T (n.4208-31C>T) c.3893-31C>T (n.3893-31C>T) c.1790-31C>T (n.1790-31C>T) c.4232-31C>T (n.4232-31C>T) c.4223-31C>T (n.4223-31C>T) c.4214-31C>T (n.4214-31C>T) c.2552-31C>T (n.2552-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108686001A= | CA2450718742 | COL4A5 | c.4217-30A= (n.4217-30A=) c.4199-30A= (n.4199-30A=) n.711-30A= n.620-30A= c.13-30A= c.4208-30A= (n.4208-30A=) c.3893-30A= (n.3893-30A=) c.1790-30A= (n.1790-30A=) c.4232-30A= (n.4232-30A=) c.4223-30A= (n.4223-30A=) c.4214-30A= (n.4214-30A=) c.2552-30A= (n.2552-30A=) | |
| X | g.108686001A>G | CA10489321 | COL4A5 | c.4217-30A>G (n.4217-30A>G) c.4199-30A>G (n.4199-30A>G) n.711-30A>G n.620-30A>G c.13-30A>G c.4208-30A>G (n.4208-30A>G) c.3893-30A>G (n.3893-30A>G) c.1790-30A>G (n.1790-30A>G) c.4232-30A>G (n.4232-30A>G) c.4223-30A>G (n.4223-30A>G) c.4214-30A>G (n.4214-30A>G) c.2552-30A>G (n.2552-30A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108686003A= | CA2450718743 | COL4A5 | c.4217-28A= (n.4217-28A=) c.4199-28A= (n.4199-28A=) n.711-28A= n.620-28A= c.13-28A= c.4208-28A= (n.4208-28A=) c.3893-28A= (n.3893-28A=) c.1790-28A= (n.1790-28A=) c.4232-28A= (n.4232-28A=) c.4223-28A= (n.4223-28A=) c.4214-28A= (n.4214-28A=) c.2552-28A= (n.2552-28A=) | |
| X | g.108686003A>G | CA643637123 | COL4A5 | c.4217-28A>G (n.4217-28A>G) c.4199-28A>G (n.4199-28A>G) n.711-28A>G n.620-28A>G c.13-28A>G c.4208-28A>G (n.4208-28A>G) c.3893-28A>G (n.3893-28A>G) c.1790-28A>G (n.1790-28A>G) c.4232-28A>G (n.4232-28A>G) c.4223-28A>G (n.4223-28A>G) c.4214-28A>G (n.4214-28A>G) c.2552-28A>G (n.2552-28A>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108686005T>C | CA10489322 | COL4A5 | c.4217-26T>C (n.4217-26T>C) c.4199-26T>C (n.4199-26T>C) n.711-26T>C n.620-26T>C c.13-26T>C c.4208-26T>C (n.4208-26T>C) c.3893-26T>C (n.3893-26T>C) c.1790-26T>C (n.1790-26T>C) c.4232-26T>C (n.4232-26T>C) c.4223-26T>C (n.4223-26T>C) c.4214-26T>C (n.4214-26T>C) c.2552-26T>C (n.2552-26T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108686005T= | CA2450718744 | COL4A5 | c.4217-26T= (n.4217-26T=) c.4199-26T= (n.4199-26T=) n.711-26T= n.620-26T= c.13-26T= c.4208-26T= (n.4208-26T=) c.3893-26T= (n.3893-26T=) c.1790-26T= (n.1790-26T=) c.4232-26T= (n.4232-26T=) c.4223-26T= (n.4223-26T=) c.4214-26T= (n.4214-26T=) c.2552-26T= (n.2552-26T=) | |
| X | g.108686006T>C | CA2579677120 | COL4A5 | c.4217-25T>C (n.4217-25T>C) c.4199-25T>C (n.4199-25T>C) n.711-25T>C n.620-25T>C c.13-25T>C c.4208-25T>C (n.4208-25T>C) c.3893-25T>C (n.3893-25T>C) c.1790-25T>C (n.1790-25T>C) c.4232-25T>C (n.4232-25T>C) c.4223-25T>C (n.4223-25T>C) c.4214-25T>C (n.4214-25T>C) c.2552-25T>C (n.2552-25T>C) | |
| X | g.108686007G= | CA2450718745 | COL4A5 | c.4217-24G= (n.4217-24G=) c.4199-24G= (n.4199-24G=) n.711-24G= n.620-24G= c.13-24G= c.4208-24G= (n.4208-24G=) c.3893-24G= (n.3893-24G=) c.1790-24G= (n.1790-24G=) c.4232-24G= (n.4232-24G=) c.4223-24G= (n.4223-24G=) c.4214-24G= (n.4214-24G=) c.2552-24G= (n.2552-24G=) | |
| X | g.108686007G>T | CA643637124 | COL4A5 | c.4217-24G>T (n.4217-24G>T) c.4199-24G>T (n.4199-24G>T) n.711-24G>T n.620-24G>T c.13-24G>T c.4208-24G>T (n.4208-24G>T) c.3893-24G>T (n.3893-24G>T) c.1790-24G>T (n.1790-24G>T) c.4232-24G>T (n.4232-24G>T) c.4223-24G>T (n.4223-24G>T) c.4214-24G>T (n.4214-24G>T) c.2552-24G>T (n.2552-24G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108686008A>T | CA2694414708 | COL4A5 | c.4217-23A>T (n.4217-23A>T) c.4199-23A>T (n.4199-23A>T) n.711-23A>T n.620-23A>T c.13-23A>T c.4208-23A>T (n.4208-23A>T) c.3893-23A>T (n.3893-23A>T) c.1790-23A>T (n.1790-23A>T) c.4232-23A>T (n.4232-23A>T) c.4223-23A>T (n.4223-23A>T) c.4214-23A>T (n.4214-23A>T) c.2552-23A>T (n.2552-23A>T) | gnomAD v4 |
| X | g.108686008_108686009del | CA2579677121 | COL4A5 | c.4217-23_4217-22del (n.4217-23_4217-22del) c.4199-23_4199-22del (n.4199-23_4199-22del) n.711-23_711-22del n.620-23_620-22del c.13-23_13-22del c.4208-23_4208-22del (n.4208-23_4208-22del) c.3893-23_3893-22del (n.3893-23_3893-22del) c.1790-23_1790-22del (n.1790-23_1790-22del) c.4232-23_4232-22del (n.4232-23_4232-22del) c.4223-23_4223-22del (n.4223-23_4223-22del) c.4214-23_4214-22del (n.4214-23_4214-22del) c.2552-23_2552-22del (n.2552-23_2552-22del) | gnomAD v4 |
| X | g.108686011G>A | CA2450718747 | COL4A5 | c.4217-20G>A (n.4217-20G>A) c.4199-20G>A (n.4199-20G>A) n.711-20G>A n.620-20G>A c.13-20G>A c.4208-20G>A (n.4208-20G>A) c.3893-20G>A (n.3893-20G>A) c.1790-20G>A (n.1790-20G>A) c.4232-20G>A (n.4232-20G>A) c.4223-20G>A (n.4223-20G>A) c.4214-20G>A (n.4214-20G>A) c.2552-20G>A (n.2552-20G>A) | dbSNP gnomAD v4 |
| X | g.108686011G= | CA2450718746 | COL4A5 | c.4217-20G= (n.4217-20G=) c.4199-20G= (n.4199-20G=) n.711-20G= n.620-20G= c.13-20G= c.4208-20G= (n.4208-20G=) c.3893-20G= (n.3893-20G=) c.1790-20G= (n.1790-20G=) c.4232-20G= (n.4232-20G=) c.4223-20G= (n.4223-20G=) c.4214-20G= (n.4214-20G=) c.2552-20G= (n.2552-20G=) | |
| X | g.108686011G>T | CA643637125 | COL4A5 | c.4217-20G>T (n.4217-20G>T) c.4199-20G>T (n.4199-20G>T) n.711-20G>T n.620-20G>T c.13-20G>T c.4208-20G>T (n.4208-20G>T) c.3893-20G>T (n.3893-20G>T) c.1790-20G>T (n.1790-20G>T) c.4232-20G>T (n.4232-20G>T) c.4223-20G>T (n.4223-20G>T) c.4214-20G>T (n.4214-20G>T) c.2552-20G>T (n.2552-20G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108686012C>A | CA2694414709 | COL4A5 | c.4217-19C>A (n.4217-19C>A) c.4199-19C>A (n.4199-19C>A) n.711-19C>A n.620-19C>A c.13-19C>A c.4208-19C>A (n.4208-19C>A) c.3893-19C>A (n.3893-19C>A) c.1790-19C>A (n.1790-19C>A) c.4232-19C>A (n.4232-19C>A) c.4223-19C>A (n.4223-19C>A) c.4214-19C>A (n.4214-19C>A) c.2552-19C>A (n.2552-19C>A) | gnomAD v4 |
| X | g.108686012C= | CA2450718748 | COL4A5 | c.4217-19C= (n.4217-19C=) c.4199-19C= (n.4199-19C=) n.711-19C= n.620-19C= c.13-19C= c.4208-19C= (n.4208-19C=) c.3893-19C= (n.3893-19C=) c.1790-19C= (n.1790-19C=) c.4232-19C= (n.4232-19C=) c.4223-19C= (n.4223-19C=) c.4214-19C= (n.4214-19C=) c.2552-19C= (n.2552-19C=) | |
| X | g.108686012C>T | CA1136194861 | COL4A5 | c.4217-19C>T (n.4217-19C>T) c.4199-19C>T (n.4199-19C>T) n.711-19C>T n.620-19C>T c.13-19C>T c.4208-19C>T (n.4208-19C>T) c.3893-19C>T (n.3893-19C>T) c.1790-19C>T (n.1790-19C>T) c.4232-19C>T (n.4232-19C>T) c.4223-19C>T (n.4223-19C>T) c.4214-19C>T (n.4214-19C>T) c.2552-19C>T (n.2552-19C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108686013C>A | CA2694414710 | COL4A5 | c.4217-18C>A (n.4217-18C>A) c.4199-18C>A (n.4199-18C>A) n.711-18C>A n.620-18C>A c.13-18C>A c.4208-18C>A (n.4208-18C>A) c.3893-18C>A (n.3893-18C>A) c.1790-18C>A (n.1790-18C>A) c.4232-18C>A (n.4232-18C>A) c.4223-18C>A (n.4223-18C>A) c.4214-18C>A (n.4214-18C>A) c.2552-18C>A (n.2552-18C>A) | ClinVar gnomAD v4 |
| X | g.108686013C>T | CA2694414711 | COL4A5 | c.4217-18C>T (n.4217-18C>T) c.4199-18C>T (n.4199-18C>T) n.711-18C>T n.620-18C>T c.13-18C>T c.4208-18C>T (n.4208-18C>T) c.3893-18C>T (n.3893-18C>T) c.1790-18C>T (n.1790-18C>T) c.4232-18C>T (n.4232-18C>T) c.4223-18C>T (n.4223-18C>T) c.4214-18C>T (n.4214-18C>T) c.2552-18C>T (n.2552-18C>T) | gnomAD v4 |
| X | g.108686014T>C | CA2694414712 | COL4A5 | c.4217-17T>C (n.4217-17T>C) c.4199-17T>C (n.4199-17T>C) n.711-17T>C n.620-17T>C c.13-17T>C c.4208-17T>C (n.4208-17T>C) c.3893-17T>C (n.3893-17T>C) c.1790-17T>C (n.1790-17T>C) c.4232-17T>C (n.4232-17T>C) c.4223-17T>C (n.4223-17T>C) c.4214-17T>C (n.4214-17T>C) c.2552-17T>C (n.2552-17T>C) | gnomAD v4 |
| X | g.108686015C>A | CA643637126 | COL4A5 | c.4217-16C>A (n.4217-16C>A) c.4199-16C>A (n.4199-16C>A) n.711-16C>A n.620-16C>A c.13-16C>A c.4208-16C>A (n.4208-16C>A) c.3893-16C>A (n.3893-16C>A) c.1790-16C>A (n.1790-16C>A) c.4232-16C>A (n.4232-16C>A) c.4223-16C>A (n.4223-16C>A) c.4214-16C>A (n.4214-16C>A) c.2552-16C>A (n.2552-16C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108686015C= | CA2450718749 | COL4A5 | c.4217-16C= (n.4217-16C=) c.4199-16C= (n.4199-16C=) n.711-16C= n.620-16C= c.13-16C= c.4208-16C= (n.4208-16C=) c.3893-16C= (n.3893-16C=) c.1790-16C= (n.1790-16C=) c.4232-16C= (n.4232-16C=) c.4223-16C= (n.4223-16C=) c.4214-16C= (n.4214-16C=) c.2552-16C= (n.2552-16C=) | |
| X | g.108686015C>T | CA2580100155 | COL4A5 | c.4217-16C>T (n.4217-16C>T) c.4199-16C>T (n.4199-16C>T) n.711-16C>T n.620-16C>T c.13-16C>T c.4208-16C>T (n.4208-16C>T) c.3893-16C>T (n.3893-16C>T) c.1790-16C>T (n.1790-16C>T) c.4232-16C>T (n.4232-16C>T) c.4223-16C>T (n.4223-16C>T) c.4214-16C>T (n.4214-16C>T) c.2552-16C>T (n.2552-16C>T) | ClinVar gnomAD v4 |
| X | g.108686016A>T | CA2694414713 | COL4A5 | c.4217-15A>T (n.4217-15A>T) c.4199-15A>T (n.4199-15A>T) n.711-15A>T n.620-15A>T c.13-15A>T c.4208-15A>T (n.4208-15A>T) c.3893-15A>T (n.3893-15A>T) c.1790-15A>T (n.1790-15A>T) c.4232-15A>T (n.4232-15A>T) c.4223-15A>T (n.4223-15A>T) c.4214-15A>T (n.4214-15A>T) c.2552-15A>T (n.2552-15A>T) | gnomAD v4 |
| X | g.108686017T>G | CA2740097969 | COL4A5 | c.4217-14T>G (n.4217-14T>G) c.4199-14T>G (n.4199-14T>G) n.711-14T>G n.620-14T>G c.13-14T>G c.4208-14T>G (n.4208-14T>G) c.3893-14T>G (n.3893-14T>G) c.1790-14T>G (n.1790-14T>G) c.4232-14T>G (n.4232-14T>G) c.4223-14T>G (n.4223-14T>G) c.4214-14T>G (n.4214-14T>G) c.2552-14T>G (n.2552-14T>G) | ClinVar |
| X | g.108686019C>A | CA334058304 | COL4A5 | c.4217-12C>A (n.4217-12C>A) c.4199-12C>A (n.4199-12C>A) n.711-12C>A n.620-12C>A c.13-12C>A c.4208-12C>A (n.4208-12C>A) c.3893-12C>A (n.3893-12C>A) c.1790-12C>A (n.1790-12C>A) c.4232-12C>A (n.4232-12C>A) c.4223-12C>A (n.4223-12C>A) c.4214-12C>A (n.4214-12C>A) c.2552-12C>A (n.2552-12C>A) | dbSNP gnomAD v4 |
| X | g.108686019C= | CA2450718750 | COL4A5 | c.4217-12C= (n.4217-12C=) c.4199-12C= (n.4199-12C=) n.711-12C= n.620-12C= c.13-12C= c.4208-12C= (n.4208-12C=) c.3893-12C= (n.3893-12C=) c.1790-12C= (n.1790-12C=) c.4232-12C= (n.4232-12C=) c.4223-12C= (n.4223-12C=) c.4214-12C= (n.4214-12C=) c.2552-12C= (n.2552-12C=) | |
| X | g.108686023dup | CA2694414714 | COL4A5 | c.4217-8dup (n.4217-8dup) c.4199-8dup (n.4199-8dup) n.711-8dup n.620-8dup c.13-8dup c.4208-8dup (n.4208-8dup) c.3893-8dup (n.3893-8dup) c.1790-8dup (n.1790-8dup) c.4232-8dup (n.4232-8dup) c.4223-8dup (n.4223-8dup) c.4214-8dup (n.4214-8dup) c.2552-8dup (n.2552-8dup) | gnomAD v4 |
| X | g.108686023del | CA2579677122 | COL4A5 | c.4217-8del (n.4217-8del) c.4199-8del (n.4199-8del) n.711-8del n.620-8del c.13-8del c.4208-8del (n.4208-8del) c.3893-8del (n.3893-8del) c.1790-8del (n.1790-8del) c.4232-8del (n.4232-8del) c.4223-8del (n.4223-8del) c.4214-8del (n.4214-8del) c.2552-8del (n.2552-8del) | gnomAD v4 |
| X | g.108686023T>C | CA2694414715 | COL4A5 | c.4217-8T>C (n.4217-8T>C) c.4199-8T>C (n.4199-8T>C) n.711-8T>C n.620-8T>C c.13-8T>C c.4208-8T>C (n.4208-8T>C) c.3893-8T>C (n.3893-8T>C) c.1790-8T>C (n.1790-8T>C) c.4232-8T>C (n.4232-8T>C) c.4223-8T>C (n.4223-8T>C) c.4214-8T>C (n.4214-8T>C) c.2552-8T>C (n.2552-8T>C) | gnomAD v4 |
| X | g.108686024C>A | CA2694414716 | COL4A5 | c.4217-7C>A (n.4217-7C>A) c.4199-7C>A (n.4199-7C>A) n.711-7C>A n.620-7C>A c.13-7C>A c.4208-7C>A (n.4208-7C>A) c.3893-7C>A (n.3893-7C>A) c.1790-7C>A (n.1790-7C>A) c.4232-7C>A (n.4232-7C>A) c.4223-7C>A (n.4223-7C>A) c.4214-7C>A (n.4214-7C>A) c.2552-7C>A (n.2552-7C>A) | gnomAD v4 |
| X | g.108686024C= | CA2450718751 | COL4A5 | c.4217-7C= (n.4217-7C=) c.4199-7C= (n.4199-7C=) n.711-7C= n.620-7C= c.13-7C= c.4208-7C= (n.4208-7C=) c.3893-7C= (n.3893-7C=) c.1790-7C= (n.1790-7C=) c.4232-7C= (n.4232-7C=) c.4223-7C= (n.4223-7C=) c.4214-7C= (n.4214-7C=) c.2552-7C= (n.2552-7C=) | |
| X | g.108686024C>T | CA643637127 | COL4A5 | c.4217-7C>T (n.4217-7C>T) c.4199-7C>T (n.4199-7C>T) n.711-7C>T n.620-7C>T c.13-7C>T c.4208-7C>T (n.4208-7C>T) c.3893-7C>T (n.3893-7C>T) c.1790-7C>T (n.1790-7C>T) c.4232-7C>T (n.4232-7C>T) c.4223-7C>T (n.4223-7C>T) c.4214-7C>T (n.4214-7C>T) c.2552-7C>T (n.2552-7C>T) | dbSNP gnomAD v2 |
| X | g.108686025C= | CA2450718752 | COL4A5 | c.4217-6C= (n.4217-6C=) c.4199-6C= (n.4199-6C=) n.711-6C= n.620-6C= c.13-6C= c.4208-6C= (n.4208-6C=) c.3893-6C= (n.3893-6C=) c.1790-6C= (n.1790-6C=) c.4232-6C= (n.4232-6C=) c.4223-6C= (n.4223-6C=) c.4214-6C= (n.4214-6C=) c.2552-6C= (n.2552-6C=) | |
| X | g.108686025C>G | CA2697544696 | COL4A5 | c.4217-6C>G (n.4217-6C>G) c.4199-6C>G (n.4199-6C>G) n.711-6C>G n.620-6C>G c.13-6C>G c.4208-6C>G (n.4208-6C>G) c.3893-6C>G (n.3893-6C>G) c.1790-6C>G (n.1790-6C>G) c.4232-6C>G (n.4232-6C>G) c.4223-6C>G (n.4223-6C>G) c.4214-6C>G (n.4214-6C>G) c.2552-6C>G (n.2552-6C>G) | ClinVar |
| X | g.108686025C>T | CA10489323 | COL4A5 | c.4217-6C>T (n.4217-6C>T) c.4199-6C>T (n.4199-6C>T) n.711-6C>T n.620-6C>T c.13-6C>T c.4208-6C>T (n.4208-6C>T) c.3893-6C>T (n.3893-6C>T) c.1790-6C>T (n.1790-6C>T) c.4232-6C>T (n.4232-6C>T) c.4223-6C>T (n.4223-6C>T) c.4214-6C>T (n.4214-6C>T) c.2552-6C>T (n.2552-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108686026T>A | CA2555989946 | COL4A5 | c.4217-5T>A (n.4217-5T>A) c.4199-5T>A (n.4199-5T>A) n.711-5T>A n.620-5T>A c.13-5T>A c.4208-5T>A (n.4208-5T>A) c.3893-5T>A (n.3893-5T>A) c.1790-5T>A (n.1790-5T>A) c.4232-5T>A (n.4232-5T>A) c.4223-5T>A (n.4223-5T>A) c.4214-5T>A (n.4214-5T>A) c.2552-5T>A (n.2552-5T>A) | |
| X | g.108686026T>C | CA2694414717 | COL4A5 | c.4217-5T>C (n.4217-5T>C) c.4199-5T>C (n.4199-5T>C) n.711-5T>C n.620-5T>C c.13-5T>C c.4208-5T>C (n.4208-5T>C) c.3893-5T>C (n.3893-5T>C) c.1790-5T>C (n.1790-5T>C) c.4232-5T>C (n.4232-5T>C) c.4223-5T>C (n.4223-5T>C) c.4214-5T>C (n.4214-5T>C) c.2552-5T>C (n.2552-5T>C) | gnomAD v4 |
| X | g.108686029A>C | CA413853323 | COL4A5 | c.4217-2A>C (n.4217-2A>C) c.4199-2A>C (n.4199-2A>C) n.711-2A>C n.620-2A>C c.13-2A>C c.4208-2A>C (n.4208-2A>C) c.3893-2A>C (n.3893-2A>C) c.1790-2A>C (n.1790-2A>C) c.4232-2A>C (n.4232-2A>C) c.4223-2A>C (n.4223-2A>C) c.4214-2A>C (n.4214-2A>C) c.2552-2A>C (n.2552-2A>C) | |
| X | g.108686029A>G | CA413853320 | COL4A5 | c.4217-2A>G (n.4217-2A>G) c.4199-2A>G (n.4199-2A>G) n.711-2A>G n.620-2A>G c.13-2A>G c.4208-2A>G (n.4208-2A>G) c.3893-2A>G (n.3893-2A>G) c.1790-2A>G (n.1790-2A>G) c.4232-2A>G (n.4232-2A>G) c.4223-2A>G (n.4223-2A>G) c.4214-2A>G (n.4214-2A>G) c.2552-2A>G (n.2552-2A>G) | gnomAD v4 |
| X | g.108686029A>T | CA413853321 | COL4A5 | c.4217-2A>T (n.4217-2A>T) c.4199-2A>T (n.4199-2A>T) n.711-2A>T n.620-2A>T c.13-2A>T c.4208-2A>T (n.4208-2A>T) c.3893-2A>T (n.3893-2A>T) c.1790-2A>T (n.1790-2A>T) c.4232-2A>T (n.4232-2A>T) c.4223-2A>T (n.4223-2A>T) c.4214-2A>T (n.4214-2A>T) c.2552-2A>T (n.2552-2A>T) | |
| X | g.108686029_108686030del | CA2579677123 | COL4A5 | c.4217-2_4217-1del (n.4217-2_4217-1del) c.4199-2_4199-1del (n.4199-2_4199-1del) n.711-2_711-1del n.620-2_620-1del c.13-2_13-1del c.4208-2_4208-1del (n.4208-2_4208-1del) c.3893-2_3893-1del (n.3893-2_3893-1del) c.1790-2_1790-1del (n.1790-2_1790-1del) c.4232-2_4232-1del (n.4232-2_4232-1del) c.4223-2_4223-1del (n.4223-2_4223-1del) c.4214-2_4214-1del (n.4214-2_4214-1del) c.2552-2_2552-1del (n.2552-2_2552-1del) | |
| X | g.108686029_108686037del | CA2573017371 | COL4A5 | c.4217-2_4223del c.4199-2_4205del n.711-2_717del n.620-2_626del c.13-2_19del c.4208-2_4214del c.3893-2_3899del c.1790-2_1796del c.4232-2_4238del c.4223-2_4229del c.4214-2_4220del c.2552-2_2558del | |
| X | g.108686030G>A | CA259003 | COL4A5 | c.4217-1G>A (n.4217-1G>A) c.4199-1G>A (n.4199-1G>A) n.711-1G>A n.620-1G>A c.13-1G>A c.4208-1G>A (n.4208-1G>A) c.3893-1G>A (n.3893-1G>A) c.1790-1G>A (n.1790-1G>A) c.4232-1G>A (n.4232-1G>A) c.4223-1G>A (n.4223-1G>A) c.4214-1G>A (n.4214-1G>A) c.2552-1G>A (n.2552-1G>A) | ClinVar dbSNP |
| X | g.108686030G>C | CA413853326 | COL4A5 | c.4217-1G>C (n.4217-1G>C) c.4199-1G>C (n.4199-1G>C) n.711-1G>C n.620-1G>C c.13-1G>C c.4208-1G>C (n.4208-1G>C) c.3893-1G>C (n.3893-1G>C) c.1790-1G>C (n.1790-1G>C) c.4232-1G>C (n.4232-1G>C) c.4223-1G>C (n.4223-1G>C) c.4214-1G>C (n.4214-1G>C) c.2552-1G>C (n.2552-1G>C) | |
| X | g.108686030G= | CA2450718753 | COL4A5 | c.4217-1G= (n.4217-1G=) c.4199-1G= (n.4199-1G=) n.711-1G= n.620-1G= c.13-1G= c.4208-1G= (n.4208-1G=) c.3893-1G= (n.3893-1G=) c.1790-1G= (n.1790-1G=) c.4232-1G= (n.4232-1G=) c.4223-1G= (n.4223-1G=) c.4214-1G= (n.4214-1G=) c.2552-1G= (n.2552-1G=) | |
| X | g.108686030G>T | CA413853328 | COL4A5 | c.4217-1G>T (n.4217-1G>T) c.4199-1G>T (n.4199-1G>T) n.711-1G>T n.620-1G>T c.13-1G>T c.4208-1G>T (n.4208-1G>T) c.3893-1G>T (n.3893-1G>T) c.1790-1G>T (n.1790-1G>T) c.4232-1G>T (n.4232-1G>T) c.4223-1G>T (n.4223-1G>T) c.4214-1G>T (n.4214-1G>T) c.2552-1G>T (n.2552-1G>T) | |
| X | g.108686031del | CA2579677124 | COL4A5 | c.4217del c.4199del n.711del n.620del c.13del c.4208del c.3893del c.1790del c.4232del c.4223del c.4214del c.2552del | |
| X | g.108686031G>A | CA413853329 | COL4A5 | c.4217G>A (p.Gly1406Asp) c.4199G>A (p.Gly1400Asp) n.711G>A n.620G>A c.13G>A c.4208G>A (p.Gly1403Asp) c.3893G>A (p.Gly1298Asp) c.1790G>A (p.Gly597Asp) c.4232G>A (p.Gly1411Asp) c.4223G>A (p.Gly1408Asp) c.4214G>A (p.Gly1405Asp) c.2552G>A (p.Gly851Asp) | |
| X | g.108686031G>C | CA413853340 | COL4A5 | c.4217G>C (p.Gly1406Ala) c.4199G>C (p.Gly1400Ala) n.711G>C n.620G>C c.13G>C c.4208G>C (p.Gly1403Ala) c.3893G>C (p.Gly1298Ala) c.1790G>C (p.Gly597Ala) c.4232G>C (p.Gly1411Ala) c.4223G>C (p.Gly1408Ala) c.4214G>C (p.Gly1405Ala) c.2552G>C (p.Gly851Ala) | |
| X | g.108686031G>T | CA413853342 | COL4A5 | c.4217G>T (p.Gly1406Val) c.4199G>T (p.Gly1400Val) n.711G>T n.620G>T c.13G>T c.4208G>T (p.Gly1403Val) c.3893G>T (p.Gly1298Val) c.1790G>T (p.Gly597Val) c.4232G>T (p.Gly1411Val) c.4223G>T (p.Gly1408Val) c.4214G>T (p.Gly1405Val) c.2552G>T (p.Gly851Val) | |
| X | g.108686032T>A | CA517924008 | COL4A5 | c.4218T>A (p.Gly1406=) c.4200T>A (p.Gly1400=) n.712T>A n.621T>A c.14T>A c.4209T>A (p.Gly1403=) c.3894T>A (p.Gly1298=) c.1791T>A (p.Gly597=) c.4233T>A (p.Gly1411=) c.4224T>A (p.Gly1408=) c.4215T>A (p.Gly1405=) c.2553T>A (p.Gly851=) | |
| X | g.108686032T>C | CA517924010 | COL4A5 | c.4218T>C (p.Gly1406=) c.4200T>C (p.Gly1400=) n.712T>C n.621T>C c.14T>C c.4209T>C (p.Gly1403=) c.3894T>C (p.Gly1298=) c.1791T>C (p.Gly597=) c.4233T>C (p.Gly1411=) c.4224T>C (p.Gly1408=) c.4215T>C (p.Gly1405=) c.2553T>C (p.Gly851=) | |
| X | g.108686032T>G | CA517924012 | COL4A5 | c.4218T>G (p.Gly1406=) c.4200T>G (p.Gly1400=) n.712T>G n.621T>G c.14T>G c.4209T>G (p.Gly1403=) c.3894T>G (p.Gly1298=) c.1791T>G (p.Gly597=) c.4233T>G (p.Gly1411=) c.4224T>G (p.Gly1408=) c.4215T>G (p.Gly1405=) c.2553T>G (p.Gly851=) | |
| X | g.108686033C>A | CA413853345 | COL4A5 | c.4219C>A (p.Pro1407Thr) c.4201C>A (p.Pro1401Thr) n.713C>A n.622C>A c.15C>A c.4210C>A (p.Pro1404Thr) c.3895C>A (p.Pro1299Thr) c.1792C>A (p.Pro598Thr) c.4234C>A (p.Pro1412Thr) c.4225C>A (p.Pro1409Thr) c.4216C>A (p.Pro1406Thr) c.2554C>A (p.Pro852Thr) | |
| X | g.108686033C>G | CA413853346 | COL4A5 | c.4219C>G (p.Pro1407Ala) c.4201C>G (p.Pro1401Ala) n.713C>G n.622C>G c.15C>G c.4210C>G (p.Pro1404Ala) c.3895C>G (p.Pro1299Ala) c.1792C>G (p.Pro598Ala) c.4234C>G (p.Pro1412Ala) c.4225C>G (p.Pro1409Ala) c.4216C>G (p.Pro1406Ala) c.2554C>G (p.Pro852Ala) | |
| X | g.108686033C>T | CA413853349 | COL4A5 | c.4219C>T (p.Pro1407Ser) c.4201C>T (p.Pro1401Ser) n.713C>T n.622C>T c.15C>T c.4210C>T (p.Pro1404Ser) c.3895C>T (p.Pro1299Ser) c.1792C>T (p.Pro598Ser) c.4234C>T (p.Pro1412Ser) c.4225C>T (p.Pro1409Ser) c.4216C>T (p.Pro1406Ser) c.2554C>T (p.Pro852Ser) | |
| X | g.108686034del | CA2580612456 | COL4A5 | c.4220del (p.Pro1407GlnfsTer?) c.4202del (p.Pro1401GlnfsTer?) n.714del n.623del c.16del c.4211del (p.Pro1404GlnfsTer?) c.3896del (p.Pro1299GlnfsTer?) c.1793del (p.Pro598GlnfsTer?) c.4235del (p.Pro1412GlnfsTer?) c.4226del (p.Pro1409GlnfsTer?) c.4217del (p.Pro1406GlnfsTer?) c.2555del (p.Pro852GlnfsTer?) | ClinVar |
| X | g.108686034C>A | CA413853356 | COL4A5 | c.4220C>A (p.Pro1407Gln) c.4202C>A (p.Pro1401Gln) n.714C>A n.623C>A c.16C>A c.4211C>A (p.Pro1404Gln) c.3896C>A (p.Pro1299Gln) c.1793C>A (p.Pro598Gln) c.4235C>A (p.Pro1412Gln) c.4226C>A (p.Pro1409Gln) c.4217C>A (p.Pro1406Gln) c.2555C>A (p.Pro852Gln) | |
| X | g.108686034C>G | CA413853354 | COL4A5 | c.4220C>G (p.Pro1407Arg) c.4202C>G (p.Pro1401Arg) n.714C>G n.623C>G c.16C>G c.4211C>G (p.Pro1404Arg) c.3896C>G (p.Pro1299Arg) c.1793C>G (p.Pro598Arg) c.4235C>G (p.Pro1412Arg) c.4226C>G (p.Pro1409Arg) c.4217C>G (p.Pro1406Arg) c.2555C>G (p.Pro852Arg) | |
| X | g.108686034C>T | CA413853352 | COL4A5 | c.4220C>T (p.Pro1407Leu) c.4202C>T (p.Pro1401Leu) n.714C>T n.623C>T c.16C>T c.4211C>T (p.Pro1404Leu) c.3896C>T (p.Pro1299Leu) c.1793C>T (p.Pro598Leu) c.4235C>T (p.Pro1412Leu) c.4226C>T (p.Pro1409Leu) c.4217C>T (p.Pro1406Leu) c.2555C>T (p.Pro852Leu) | |
| X | g.108686034_108686035delinsCA | CA2450718754 | COL4A5 | c.4220_4221delinsCA (p.Pro1407=) c.4202_4203delinsCA (p.Pro1401=) n.714_715delinsCA n.623_624delinsCA c.16_17delinsCA c.4211_4212delinsCA (p.Pro1404=) c.3896_3897delinsCA (p.Pro1299=) c.1793_1794delinsCA (p.Pro598=) c.4235_4236delinsCA (p.Pro1412=) c.4226_4227delinsCA (p.Pro1409=) c.4217_4218delinsCA (p.Pro1406=) c.2555_2556delinsCA (p.Pro852=) | |
| X | g.108686035A>C | CA517924016 | COL4A5 | c.4221A>C (p.Pro1407=) c.4203A>C (p.Pro1401=) n.715A>C n.624A>C c.17A>C c.4212A>C (p.Pro1404=) c.3897A>C (p.Pro1299=) c.1794A>C (p.Pro598=) c.4236A>C (p.Pro1412=) c.4227A>C (p.Pro1409=) c.4218A>C (p.Pro1406=) c.2556A>C (p.Pro852=) | |
| X | g.108686035A>G | CA517924014 | COL4A5 | c.4221A>G (p.Pro1407=) c.4203A>G (p.Pro1401=) n.715A>G n.624A>G c.17A>G c.4212A>G (p.Pro1404=) c.3897A>G (p.Pro1299=) c.1794A>G (p.Pro598=) c.4236A>G (p.Pro1412=) c.4227A>G (p.Pro1409=) c.4218A>G (p.Pro1406=) c.2556A>G (p.Pro852=) | |
| X | g.108686035A>T | CA517924018 | COL4A5 | c.4221A>T (p.Pro1407=) c.4203A>T (p.Pro1401=) n.715A>T n.624A>T c.17A>T c.4212A>T (p.Pro1404=) c.3897A>T (p.Pro1299=) c.1794A>T (p.Pro598=) c.4236A>T (p.Pro1412=) c.4227A>T (p.Pro1409=) c.4218A>T (p.Pro1406=) c.2556A>T (p.Pro852=) | |
| X | g.108686036del | CA916083993 | COL4A5 | c.4222del (p.Thr1408LeufsTer?) c.4204del (p.Thr1402LeufsTer?) n.716del n.625del c.18del c.4213del (p.Thr1405LeufsTer?) c.3898del (p.Thr1300LeufsTer?) c.1795del (p.Thr599LeufsTer?) c.4237del (p.Thr1413LeufsTer?) c.4228del (p.Thr1410LeufsTer?) c.4219del (p.Thr1407LeufsTer?) c.2557del (p.Thr853LeufsTer?) | ClinVar dbSNP |
| X | g.108686036A>C | CA413853359 | COL4A5 | c.4222A>C (p.Thr1408Pro) c.4204A>C (p.Thr1402Pro) n.716A>C n.625A>C c.18A>C c.4213A>C (p.Thr1405Pro) c.3898A>C (p.Thr1300Pro) c.1795A>C (p.Thr599Pro) c.4237A>C (p.Thr1413Pro) c.4228A>C (p.Thr1410Pro) c.4219A>C (p.Thr1407Pro) c.2557A>C (p.Thr853Pro) | |
| X | g.108686036A>G | CA413853362 | COL4A5 | c.4222A>G (p.Thr1408Ala) c.4204A>G (p.Thr1402Ala) n.716A>G n.625A>G c.18A>G c.4213A>G (p.Thr1405Ala) c.3898A>G (p.Thr1300Ala) c.1795A>G (p.Thr599Ala) c.4237A>G (p.Thr1413Ala) c.4228A>G (p.Thr1410Ala) c.4219A>G (p.Thr1407Ala) c.2557A>G (p.Thr853Ala) | gnomAD v4 |
| X | g.108686036A>T | CA413853364 | COL4A5 | c.4222A>T (p.Thr1408Ser) c.4204A>T (p.Thr1402Ser) n.716A>T n.625A>T c.18A>T c.4213A>T (p.Thr1405Ser) c.3898A>T (p.Thr1300Ser) c.1795A>T (p.Thr599Ser) c.4237A>T (p.Thr1413Ser) c.4228A>T (p.Thr1410Ser) c.4219A>T (p.Thr1407Ser) c.2557A>T (p.Thr853Ser) | |
| X | g.108686037C>A | CA413853365 | COL4A5 | c.4223C>A (p.Thr1408Asn) c.4205C>A (p.Thr1402Asn) n.717C>A n.626C>A c.19C>A c.4214C>A (p.Thr1405Asn) c.3899C>A (p.Thr1300Asn) c.1796C>A (p.Thr599Asn) c.4238C>A (p.Thr1413Asn) c.4229C>A (p.Thr1410Asn) c.4220C>A (p.Thr1407Asn) c.2558C>A (p.Thr853Asn) | |
| X | g.108686037C= | CA2450718755 | COL4A5 | c.4223C= (p.Thr1408=) c.4205C= (p.Thr1402=) n.717C= n.626C= c.19C= c.4214C= (p.Thr1405=) c.3899C= (p.Thr1300=) c.1796C= (p.Thr599=) c.4238C= (p.Thr1413=) c.4229C= (p.Thr1410=) c.4220C= (p.Thr1407=) c.2558C= (p.Thr853=) | |
| X | g.108686037C>G | CA10489324 | COL4A5 | c.4223C>G (p.Thr1408Ser) c.4205C>G (p.Thr1402Ser) n.717C>G n.626C>G c.19C>G c.4214C>G (p.Thr1405Ser) c.3899C>G (p.Thr1300Ser) c.1796C>G (p.Thr599Ser) c.4238C>G (p.Thr1413Ser) c.4229C>G (p.Thr1410Ser) c.4220C>G (p.Thr1407Ser) c.2558C>G (p.Thr853Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108686037C>T | CA413853366 | COL4A5 | c.4223C>T (p.Thr1408Ile) c.4205C>T (p.Thr1402Ile) n.717C>T n.626C>T c.19C>T c.4214C>T (p.Thr1405Ile) c.3899C>T (p.Thr1300Ile) c.1796C>T (p.Thr599Ile) c.4238C>T (p.Thr1413Ile) c.4229C>T (p.Thr1410Ile) c.4220C>T (p.Thr1407Ile) c.2558C>T (p.Thr853Ile) | |
| X | g.108686038T>A | CA517924022 | COL4A5 | c.4224T>A (p.Thr1408=) c.4206T>A (p.Thr1402=) n.718T>A n.627T>A c.20T>A c.4215T>A (p.Thr1405=) c.3900T>A (p.Thr1300=) c.1797T>A (p.Thr599=) c.4239T>A (p.Thr1413=) c.4230T>A (p.Thr1410=) c.4221T>A (p.Thr1407=) c.2559T>A (p.Thr853=) | |
| X | g.108686038T>C | CA517924024 | COL4A5 | c.4224T>C (p.Thr1408=) c.4206T>C (p.Thr1402=) n.718T>C n.627T>C c.20T>C c.4215T>C (p.Thr1405=) c.3900T>C (p.Thr1300=) c.1797T>C (p.Thr599=) c.4239T>C (p.Thr1413=) c.4230T>C (p.Thr1410=) c.4221T>C (p.Thr1407=) c.2559T>C (p.Thr853=) | gnomAD v4 |
| X | g.108686038T>G | CA517924023 | COL4A5 | c.4224T>G (p.Thr1408=) c.4206T>G (p.Thr1402=) n.718T>G n.627T>G c.20T>G c.4215T>G (p.Thr1405=) c.3900T>G (p.Thr1300=) c.1797T>G (p.Thr599=) c.4239T>G (p.Thr1413=) c.4230T>G (p.Thr1410=) c.4221T>G (p.Thr1407=) c.2559T>G (p.Thr853=) | |
| X | g.108686039G>A | CA413853367 | COL4A5 | c.4225G>A (p.Gly1409Ser) c.4207G>A (p.Gly1403Ser) n.719G>A n.628G>A c.21G>A c.4216G>A (p.Gly1406Ser) c.3901G>A (p.Gly1301Ser) c.1798G>A (p.Gly600Ser) c.4240G>A (p.Gly1414Ser) c.4231G>A (p.Gly1411Ser) c.4222G>A (p.Gly1408Ser) c.2560G>A (p.Gly854Ser) | |
| X | g.108686039G>C | CA413853368 | COL4A5 | c.4225G>C (p.Gly1409Arg) c.4207G>C (p.Gly1403Arg) n.719G>C n.628G>C c.21G>C c.4216G>C (p.Gly1406Arg) c.3901G>C (p.Gly1301Arg) c.1798G>C (p.Gly600Arg) c.4240G>C (p.Gly1414Arg) c.4231G>C (p.Gly1411Arg) c.4222G>C (p.Gly1408Arg) c.2560G>C (p.Gly854Arg) | |
| X | g.108686039G>T | CA413853371 | COL4A5 | c.4225G>T (p.Gly1409Cys) c.4207G>T (p.Gly1403Cys) n.719G>T n.628G>T c.21G>T c.4216G>T (p.Gly1406Cys) c.3901G>T (p.Gly1301Cys) c.1798G>T (p.Gly600Cys) c.4240G>T (p.Gly1414Cys) c.4231G>T (p.Gly1411Cys) c.4222G>T (p.Gly1408Cys) c.2560G>T (p.Gly854Cys) | |
| X | g.108686040G>A | CA413853373 | COL4A5 | c.4226G>A (p.Gly1409Asp) c.4208G>A (p.Gly1403Asp) n.720G>A n.629G>A c.22G>A c.4217G>A (p.Gly1406Asp) c.3902G>A (p.Gly1301Asp) c.1799G>A (p.Gly600Asp) c.4241G>A (p.Gly1414Asp) c.4232G>A (p.Gly1411Asp) c.4223G>A (p.Gly1408Asp) c.2561G>A (p.Gly854Asp) | gnomAD v4 |
| X | g.108686040G>C | CA413853375 | COL4A5 | c.4226G>C (p.Gly1409Ala) c.4208G>C (p.Gly1403Ala) n.720G>C n.629G>C c.22G>C c.4217G>C (p.Gly1406Ala) c.3902G>C (p.Gly1301Ala) c.1799G>C (p.Gly600Ala) c.4241G>C (p.Gly1414Ala) c.4232G>C (p.Gly1411Ala) c.4223G>C (p.Gly1408Ala) c.2561G>C (p.Gly854Ala) | |
| X | g.108686040G>T | CA413853381 | COL4A5 | c.4226G>T (p.Gly1409Val) c.4208G>T (p.Gly1403Val) n.720G>T n.629G>T c.22G>T c.4217G>T (p.Gly1406Val) c.3902G>T (p.Gly1301Val) c.1799G>T (p.Gly600Val) c.4241G>T (p.Gly1414Val) c.4232G>T (p.Gly1411Val) c.4223G>T (p.Gly1408Val) c.2561G>T (p.Gly854Val) | |
| X | g.108686041C>A | CA517924034 | COL4A5 | c.4227C>A (p.Gly1409=) c.4209C>A (p.Gly1403=) n.721C>A n.630C>A c.23C>A c.4218C>A (p.Gly1406=) c.3903C>A (p.Gly1301=) c.1800C>A (p.Gly600=) c.4242C>A (p.Gly1414=) c.4233C>A (p.Gly1411=) c.4224C>A (p.Gly1408=) c.2562C>A (p.Gly854=) | |
| X | g.108686041C>G | CA517924035 | COL4A5 | c.4227C>G (p.Gly1409=) c.4209C>G (p.Gly1403=) n.721C>G n.630C>G c.23C>G c.4218C>G (p.Gly1406=) c.3903C>G (p.Gly1301=) c.1800C>G (p.Gly600=) c.4242C>G (p.Gly1414=) c.4233C>G (p.Gly1411=) c.4224C>G (p.Gly1408=) c.2562C>G (p.Gly854=) | |
| X | g.108686041C>T | CA517924036 | COL4A5 | c.4227C>T (p.Gly1409=) c.4209C>T (p.Gly1403=) n.721C>T n.630C>T c.23C>T c.4218C>T (p.Gly1406=) c.3903C>T (p.Gly1301=) c.1800C>T (p.Gly600=) c.4242C>T (p.Gly1414=) c.4233C>T (p.Gly1411=) c.4224C>T (p.Gly1408=) c.2562C>T (p.Gly854=) | gnomAD v4 |
| X | g.108686042C>A | CA413853390 | COL4A5 | c.4228C>A (p.Pro1410Thr) c.4210C>A (p.Pro1404Thr) n.722C>A n.631C>A c.24C>A c.4219C>A (p.Pro1407Thr) c.3904C>A (p.Pro1302Thr) c.1801C>A (p.Pro601Thr) c.4243C>A (p.Pro1415Thr) c.4234C>A (p.Pro1412Thr) c.4225C>A (p.Pro1409Thr) c.2563C>A (p.Pro855Thr) | |
| X | g.108686042C>G | CA413853393 | COL4A5 | c.4228C>G (p.Pro1410Ala) c.4210C>G (p.Pro1404Ala) n.722C>G n.631C>G c.24C>G c.4219C>G (p.Pro1407Ala) c.3904C>G (p.Pro1302Ala) c.1801C>G (p.Pro601Ala) c.4243C>G (p.Pro1415Ala) c.4234C>G (p.Pro1412Ala) c.4225C>G (p.Pro1409Ala) c.2563C>G (p.Pro855Ala) | |
| X | g.108686042C>T | CA413853384 | COL4A5 | c.4228C>T (p.Pro1410Ser) c.4210C>T (p.Pro1404Ser) n.722C>T n.631C>T c.24C>T c.4219C>T (p.Pro1407Ser) c.3904C>T (p.Pro1302Ser) c.1801C>T (p.Pro601Ser) c.4243C>T (p.Pro1415Ser) c.4234C>T (p.Pro1412Ser) c.4225C>T (p.Pro1409Ser) c.2563C>T (p.Pro855Ser) | ClinVar gnomAD v4 |
| X | g.108686043C>A | CA413853398 | COL4A5 | c.4229C>A (p.Pro1410His) c.4211C>A (p.Pro1404His) n.723C>A n.632C>A c.25C>A c.4220C>A (p.Pro1407His) c.3905C>A (p.Pro1302His) c.1802C>A (p.Pro601His) c.4244C>A (p.Pro1415His) c.4235C>A (p.Pro1412His) c.4226C>A (p.Pro1409His) c.2564C>A (p.Pro855His) | |
| X | g.108686043C>G | CA413853400 | COL4A5 | c.4229C>G (p.Pro1410Arg) c.4211C>G (p.Pro1404Arg) n.723C>G n.632C>G c.25C>G c.4220C>G (p.Pro1407Arg) c.3905C>G (p.Pro1302Arg) c.1802C>G (p.Pro601Arg) c.4244C>G (p.Pro1415Arg) c.4235C>G (p.Pro1412Arg) c.4226C>G (p.Pro1409Arg) c.2564C>G (p.Pro855Arg) | |
| X | g.108686043C>T | CA413853404 | COL4A5 | c.4229C>T (p.Pro1410Leu) c.4211C>T (p.Pro1404Leu) n.723C>T n.632C>T c.25C>T c.4220C>T (p.Pro1407Leu) c.3905C>T (p.Pro1302Leu) c.1802C>T (p.Pro601Leu) c.4244C>T (p.Pro1415Leu) c.4235C>T (p.Pro1412Leu) c.4226C>T (p.Pro1409Leu) c.2564C>T (p.Pro855Leu) | |
| X | g.108686044T>A | CA517924039 | COL4A5 | c.4230T>A (p.Pro1410=) c.4212T>A (p.Pro1404=) n.724T>A n.633T>A c.26T>A c.4221T>A (p.Pro1407=) c.3906T>A (p.Pro1302=) c.1803T>A (p.Pro601=) c.4245T>A (p.Pro1415=) c.4236T>A (p.Pro1412=) c.4227T>A (p.Pro1409=) c.2565T>A (p.Pro855=) | |
| X | g.108686044T>C | CA517924040 | COL4A5 | c.4230T>C (p.Pro1410=) c.4212T>C (p.Pro1404=) n.724T>C n.633T>C c.26T>C c.4221T>C (p.Pro1407=) c.3906T>C (p.Pro1302=) c.1803T>C (p.Pro601=) c.4245T>C (p.Pro1415=) c.4236T>C (p.Pro1412=) c.4227T>C (p.Pro1409=) c.2565T>C (p.Pro855=) | |
| X | g.108686044T>G | CA517924041 | COL4A5 | c.4230T>G (p.Pro1410=) c.4212T>G (p.Pro1404=) n.724T>G n.633T>G c.26T>G c.4221T>G (p.Pro1407=) c.3906T>G (p.Pro1302=) c.1803T>G (p.Pro601=) c.4245T>G (p.Pro1415=) c.4236T>G (p.Pro1412=) c.4227T>G (p.Pro1409=) c.2565T>G (p.Pro855=) | |
| X | g.108686044T= | CA2450718756 | COL4A5 | c.4230T= (p.Pro1410=) c.4212T= (p.Pro1404=) n.724T= n.633T= c.26T= c.4221T= (p.Pro1407=) c.3906T= (p.Pro1302=) c.1803T= (p.Pro601=) c.4245T= (p.Pro1415=) c.4236T= (p.Pro1412=) c.4227T= (p.Pro1409=) c.2565T= (p.Pro855=) | |
| X | g.108686045C>A | CA413853408 | COL4A5 | c.4231C>A (p.Pro1411Thr) c.4213C>A (p.Pro1405Thr) n.725C>A n.634C>A c.27C>A c.4222C>A (p.Pro1408Thr) c.3907C>A (p.Pro1303Thr) c.1804C>A (p.Pro602Thr) c.4246C>A (p.Pro1416Thr) c.4237C>A (p.Pro1413Thr) c.4228C>A (p.Pro1410Thr) c.2566C>A (p.Pro856Thr) | |
| X | g.108686045C>G | CA413853412 | COL4A5 | c.4231C>G (p.Pro1411Ala) c.4213C>G (p.Pro1405Ala) n.725C>G n.634C>G c.27C>G c.4222C>G (p.Pro1408Ala) c.3907C>G (p.Pro1303Ala) c.1804C>G (p.Pro602Ala) c.4246C>G (p.Pro1416Ala) c.4237C>G (p.Pro1413Ala) c.4228C>G (p.Pro1410Ala) c.2566C>G (p.Pro856Ala) | |
| X | g.108686045C>T | CA413853417 | COL4A5 | c.4231C>T (p.Pro1411Ser) c.4213C>T (p.Pro1405Ser) n.725C>T n.634C>T c.27C>T c.4222C>T (p.Pro1408Ser) c.3907C>T (p.Pro1303Ser) c.1804C>T (p.Pro602Ser) c.4246C>T (p.Pro1416Ser) c.4237C>T (p.Pro1413Ser) c.4228C>T (p.Pro1410Ser) c.2566C>T (p.Pro856Ser) | |
| X | g.108686046dup | CA259004 | COL4A5 | c.4232dup (p.Gly1412ArgfsTer12) c.4214dup (p.Gly1406ArgfsTer12) n.726dup n.635dup c.28dup c.4223dup (p.Gly1409ArgfsTer12) c.3908dup (p.Gly1304ArgfsTer12) c.1805dup (p.Gly603ArgfsTer12) c.4247dup (p.Gly1417ArgfsTer12) c.4238dup (p.Gly1414ArgfsTer12) c.4229dup (p.Gly1411ArgfsTer12) c.2567dup (p.Gly857ArgfsTer12) | dbSNP |
| X | g.108686046C>A | CA413853429 | COL4A5 | c.4232C>A (p.Pro1411Gln) c.4214C>A (p.Pro1405Gln) n.726C>A n.635C>A c.28C>A c.4223C>A (p.Pro1408Gln) c.3908C>A (p.Pro1303Gln) c.1805C>A (p.Pro602Gln) c.4247C>A (p.Pro1416Gln) c.4238C>A (p.Pro1413Gln) c.4229C>A (p.Pro1410Gln) c.2567C>A (p.Pro856Gln) | |
| X | g.108686046C>G | CA413853432 | COL4A5 | c.4232C>G (p.Pro1411Arg) c.4214C>G (p.Pro1405Arg) n.726C>G n.635C>G c.28C>G c.4223C>G (p.Pro1408Arg) c.3908C>G (p.Pro1303Arg) c.1805C>G (p.Pro602Arg) c.4247C>G (p.Pro1416Arg) c.4238C>G (p.Pro1413Arg) c.4229C>G (p.Pro1410Arg) c.2567C>G (p.Pro856Arg) | |
| X | g.108686046C>T | CA413853434 | COL4A5 | c.4232C>T (p.Pro1411Leu) c.4214C>T (p.Pro1405Leu) n.726C>T n.635C>T c.28C>T c.4223C>T (p.Pro1408Leu) c.3908C>T (p.Pro1303Leu) c.1805C>T (p.Pro602Leu) c.4247C>T (p.Pro1416Leu) c.4238C>T (p.Pro1413Leu) c.4229C>T (p.Pro1410Leu) c.2567C>T (p.Pro856Leu) | ClinVar dbSNP |
| X | g.108686047A>C | CA517924047 | COL4A5 | c.4233A>C (p.Pro1411=) c.4215A>C (p.Pro1405=) n.727A>C n.636A>C c.29A>C c.4224A>C (p.Pro1408=) c.3909A>C (p.Pro1303=) c.1806A>C (p.Pro602=) c.4248A>C (p.Pro1416=) c.4239A>C (p.Pro1413=) c.4230A>C (p.Pro1410=) c.2568A>C (p.Pro856=) | |
| X | g.108686047A>G | CA517924048 | COL4A5 | c.4233A>G (p.Pro1411=) c.4215A>G (p.Pro1405=) n.727A>G n.636A>G c.29A>G c.4224A>G (p.Pro1408=) c.3909A>G (p.Pro1303=) c.1806A>G (p.Pro602=) c.4248A>G (p.Pro1416=) c.4239A>G (p.Pro1413=) c.4230A>G (p.Pro1410=) c.2568A>G (p.Pro856=) | |
| X | g.108686047A>T | CA517924046 | COL4A5 | c.4233A>T (p.Pro1411=) c.4215A>T (p.Pro1405=) n.727A>T n.636A>T c.29A>T c.4224A>T (p.Pro1408=) c.3909A>T (p.Pro1303=) c.1806A>T (p.Pro602=) c.4248A>T (p.Pro1416=) c.4239A>T (p.Pro1413=) c.4230A>T (p.Pro1410=) c.2568A>T (p.Pro856=) | |
| X | g.108686048G>A | CA413853438 | COL4A5 | c.4234G>A (p.Gly1412Arg) c.4216G>A (p.Gly1406Arg) n.728G>A n.637G>A c.30G>A c.4225G>A (p.Gly1409Arg) c.3910G>A (p.Gly1304Arg) c.1807G>A (p.Gly603Arg) c.4249G>A (p.Gly1417Arg) c.4240G>A (p.Gly1414Arg) c.4231G>A (p.Gly1411Arg) c.2569G>A (p.Gly857Arg) | |
| X | g.108686048G>C | CA413853440 | COL4A5 | c.4234G>C (p.Gly1412Arg) c.4216G>C (p.Gly1406Arg) n.728G>C n.637G>C c.30G>C c.4225G>C (p.Gly1409Arg) c.3910G>C (p.Gly1304Arg) c.1807G>C (p.Gly603Arg) c.4249G>C (p.Gly1417Arg) c.4240G>C (p.Gly1414Arg) c.4231G>C (p.Gly1411Arg) c.2569G>C (p.Gly857Arg) | |
| X | g.108686048G>T | CA413853442 | COL4A5 | c.4234G>T (p.Gly1412Ter) c.4216G>T (p.Gly1406Ter) n.728G>T n.637G>T c.30G>T c.4225G>T (p.Gly1409Ter) c.3910G>T (p.Gly1304Ter) c.1807G>T (p.Gly603Ter) c.4249G>T (p.Gly1417Ter) c.4240G>T (p.Gly1414Ter) c.4231G>T (p.Gly1411Ter) c.2569G>T (p.Gly857Ter) | |
| X | g.108686049G>A | CA413853447 | COL4A5 | c.4235G>A (p.Gly1412Glu) c.4217G>A (p.Gly1406Glu) n.729G>A n.638G>A c.31G>A c.4226G>A (p.Gly1409Glu) c.3911G>A (p.Gly1304Glu) c.1808G>A (p.Gly603Glu) c.4250G>A (p.Gly1417Glu) c.4241G>A (p.Gly1414Glu) c.4232G>A (p.Gly1411Glu) c.2570G>A (p.Gly857Glu) | |
| X | g.108686049G>C | CA413853450 | COL4A5 | c.4235G>C (p.Gly1412Ala) c.4217G>C (p.Gly1406Ala) n.729G>C n.638G>C c.31G>C c.4226G>C (p.Gly1409Ala) c.3911G>C (p.Gly1304Ala) c.1808G>C (p.Gly603Ala) c.4250G>C (p.Gly1417Ala) c.4241G>C (p.Gly1414Ala) c.4232G>C (p.Gly1411Ala) c.2570G>C (p.Gly857Ala) | |
| X | g.108686049G>T | CA413853445 | COL4A5 | c.4235G>T (p.Gly1412Val) c.4217G>T (p.Gly1406Val) n.729G>T n.638G>T c.31G>T c.4226G>T (p.Gly1409Val) c.3911G>T (p.Gly1304Val) c.1808G>T (p.Gly603Val) c.4250G>T (p.Gly1417Val) c.4241G>T (p.Gly1414Val) c.4232G>T (p.Gly1411Val) c.2570G>T (p.Gly857Val) | |
| X | g.108686050A>C | CA517924054 | COL4A5 | c.4236A>C (p.Gly1412=) c.4218A>C (p.Gly1406=) n.730A>C n.639A>C c.32A>C c.4227A>C (p.Gly1409=) c.3912A>C (p.Gly1304=) c.1809A>C (p.Gly603=) c.4251A>C (p.Gly1417=) c.4242A>C (p.Gly1414=) c.4233A>C (p.Gly1411=) c.2571A>C (p.Gly857=) | |
| X | g.108686050A>G | CA517924055 | COL4A5 | c.4236A>G (p.Gly1412=) c.4218A>G (p.Gly1406=) n.730A>G n.639A>G c.32A>G c.4227A>G (p.Gly1409=) c.3912A>G (p.Gly1304=) c.1809A>G (p.Gly603=) c.4251A>G (p.Gly1417=) c.4242A>G (p.Gly1414=) c.4233A>G (p.Gly1411=) c.2571A>G (p.Gly857=) | |
| X | g.108686050A>T | CA517924057 | COL4A5 | c.4236A>T (p.Gly1412=) c.4218A>T (p.Gly1406=) n.730A>T n.639A>T c.32A>T c.4227A>T (p.Gly1409=) c.3912A>T (p.Gly1304=) c.1809A>T (p.Gly603=) c.4251A>T (p.Gly1417=) c.4242A>T (p.Gly1414=) c.4233A>T (p.Gly1411=) c.2571A>T (p.Gly857=) | |
| X | g.108686051G>A | CA413853453 | COL4A5 | c.4237G>A (p.Asp1413Asn) c.4219G>A (p.Asp1407Asn) n.731G>A n.640G>A c.33G>A c.4228G>A (p.Asp1410Asn) c.3913G>A (p.Asp1305Asn) c.1810G>A (p.Asp604Asn) c.4252G>A (p.Asp1418Asn) c.4243G>A (p.Asp1415Asn) c.4234G>A (p.Asp1412Asn) c.2572G>A (p.Asp858Asn) | COSMIC COSMIC |
| X | g.108686051G>C | CA413853456 | COL4A5 | c.4237G>C (p.Asp1413His) c.4219G>C (p.Asp1407His) n.731G>C n.640G>C c.33G>C c.4228G>C (p.Asp1410His) c.3913G>C (p.Asp1305His) c.1810G>C (p.Asp604His) c.4252G>C (p.Asp1418His) c.4243G>C (p.Asp1415His) c.4234G>C (p.Asp1412His) c.2572G>C (p.Asp858His) | |
| X | g.108686051G>T | CA413853457 | COL4A5 | c.4237G>T (p.Asp1413Tyr) c.4219G>T (p.Asp1407Tyr) n.731G>T n.640G>T c.33G>T c.4228G>T (p.Asp1410Tyr) c.3913G>T (p.Asp1305Tyr) c.1810G>T (p.Asp604Tyr) c.4252G>T (p.Asp1418Tyr) c.4243G>T (p.Asp1415Tyr) c.4234G>T (p.Asp1412Tyr) c.2572G>T (p.Asp858Tyr) | |
| X | g.108686052A>C | CA413853462 | COL4A5 | c.4238A>C (p.Asp1413Ala) c.4220A>C (p.Asp1407Ala) n.732A>C n.641A>C c.34A>C c.4229A>C (p.Asp1410Ala) c.3914A>C (p.Asp1305Ala) c.1811A>C (p.Asp604Ala) c.4253A>C (p.Asp1418Ala) c.4244A>C (p.Asp1415Ala) c.4235A>C (p.Asp1412Ala) c.2573A>C (p.Asp858Ala) | |
| X | g.108686052A>G | CA413853465 | COL4A5 | c.4238A>G (p.Asp1413Gly) c.4220A>G (p.Asp1407Gly) n.732A>G n.641A>G c.34A>G c.4229A>G (p.Asp1410Gly) c.3914A>G (p.Asp1305Gly) c.1811A>G (p.Asp604Gly) c.4253A>G (p.Asp1418Gly) c.4244A>G (p.Asp1415Gly) c.4235A>G (p.Asp1412Gly) c.2573A>G (p.Asp858Gly) | gnomAD v4 COSMIC |
| X | g.108686052A>T | CA413853468 | COL4A5 | c.4238A>T (p.Asp1413Val) c.4220A>T (p.Asp1407Val) n.732A>T n.641A>T c.34A>T c.4229A>T (p.Asp1410Val) c.3914A>T (p.Asp1305Val) c.1811A>T (p.Asp604Val) c.4253A>T (p.Asp1418Val) c.4244A>T (p.Asp1415Val) c.4235A>T (p.Asp1412Val) c.2573A>T (p.Asp858Val) | |
| X | g.108686053T>A | CA10489325 | COL4A5 | c.4239T>A (p.Asp1413Glu) c.4221T>A (p.Asp1407Glu) n.733T>A n.642T>A c.35T>A c.4230T>A (p.Asp1410Glu) c.3915T>A (p.Asp1305Glu) c.1812T>A (p.Asp604Glu) c.4254T>A (p.Asp1418Glu) c.4245T>A (p.Asp1415Glu) c.4236T>A (p.Asp1412Glu) c.2574T>A (p.Asp858Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108686053T>C | CA517924059 | COL4A5 | c.4239T>C (p.Asp1413=) c.4221T>C (p.Asp1407=) n.733T>C n.642T>C c.35T>C c.4230T>C (p.Asp1410=) c.3915T>C (p.Asp1305=) c.1812T>C (p.Asp604=) c.4254T>C (p.Asp1418=) c.4245T>C (p.Asp1415=) c.4236T>C (p.Asp1412=) c.2574T>C (p.Asp858=) | |
| X | g.108686053T>G | CA413853472 | COL4A5 | c.4239T>G (p.Asp1413Glu) c.4221T>G (p.Asp1407Glu) n.733T>G n.642T>G c.35T>G c.4230T>G (p.Asp1410Glu) c.3915T>G (p.Asp1305Glu) c.1812T>G (p.Asp604Glu) c.4254T>G (p.Asp1418Glu) c.4245T>G (p.Asp1415Glu) c.4236T>G (p.Asp1412Glu) c.2574T>G (p.Asp858Glu) | |
| X | g.108686053T= | CA2450718757 | COL4A5 | c.4239T= (p.Asp1413=) c.4221T= (p.Asp1407=) n.733T= n.642T= c.35T= c.4230T= (p.Asp1410=) c.3915T= (p.Asp1305=) c.1812T= (p.Asp604=) c.4254T= (p.Asp1418=) c.4245T= (p.Asp1415=) c.4236T= (p.Asp1412=) c.2574T= (p.Asp858=) | |
| X | g.108686054C>A | CA413853475 | COL4A5 | c.4240C>A (p.Pro1414Thr) c.4222C>A (p.Pro1408Thr) n.734C>A n.643C>A c.36C>A c.4231C>A (p.Pro1411Thr) c.3916C>A (p.Pro1306Thr) c.1813C>A (p.Pro605Thr) c.4255C>A (p.Pro1419Thr) c.4246C>A (p.Pro1416Thr) c.4237C>A (p.Pro1413Thr) c.2575C>A (p.Pro859Thr) | |
| X | g.108686054C>G | CA413853476 | COL4A5 | c.4240C>G (p.Pro1414Ala) c.4222C>G (p.Pro1408Ala) n.734C>G n.643C>G c.36C>G c.4231C>G (p.Pro1411Ala) c.3916C>G (p.Pro1306Ala) c.1813C>G (p.Pro605Ala) c.4255C>G (p.Pro1419Ala) c.4246C>G (p.Pro1416Ala) c.4237C>G (p.Pro1413Ala) c.2575C>G (p.Pro859Ala) | |
| X | g.108686054C>T | CA413853478 | COL4A5 | c.4240C>T (p.Pro1414Ser) c.4222C>T (p.Pro1408Ser) n.734C>T n.643C>T c.36C>T c.4231C>T (p.Pro1411Ser) c.3916C>T (p.Pro1306Ser) c.1813C>T (p.Pro605Ser) c.4255C>T (p.Pro1419Ser) c.4246C>T (p.Pro1416Ser) c.4237C>T (p.Pro1413Ser) c.2575C>T (p.Pro859Ser) | |
| X | g.108686055C>A | CA413853479 | COL4A5 | c.4241C>A (p.Pro1414His) c.4223C>A (p.Pro1408His) n.735C>A n.644C>A c.37C>A c.4232C>A (p.Pro1411His) c.3917C>A (p.Pro1306His) c.1814C>A (p.Pro605His) c.4256C>A (p.Pro1419His) c.4247C>A (p.Pro1416His) c.4238C>A (p.Pro1413His) c.2576C>A (p.Pro859His) | |
| X | g.108686055C>G | CA413853482 | COL4A5 | c.4241C>G (p.Pro1414Arg) c.4223C>G (p.Pro1408Arg) n.735C>G n.644C>G c.37C>G c.4232C>G (p.Pro1411Arg) c.3917C>G (p.Pro1306Arg) c.1814C>G (p.Pro605Arg) c.4256C>G (p.Pro1419Arg) c.4247C>G (p.Pro1416Arg) c.4238C>G (p.Pro1413Arg) c.2576C>G (p.Pro859Arg) | |
| X | g.108686055C>T | CA413853484 | COL4A5 | c.4241C>T (p.Pro1414Leu) c.4223C>T (p.Pro1408Leu) n.735C>T n.644C>T c.37C>T c.4232C>T (p.Pro1411Leu) c.3917C>T (p.Pro1306Leu) c.1814C>T (p.Pro605Leu) c.4256C>T (p.Pro1419Leu) c.4247C>T (p.Pro1416Leu) c.4238C>T (p.Pro1413Leu) c.2576C>T (p.Pro859Leu) | |
| X | g.108686056T>A | CA517924064 | COL4A5 | c.4242T>A (p.Pro1414=) c.4224T>A (p.Pro1408=) n.736T>A n.645T>A c.38T>A c.4233T>A (p.Pro1411=) c.3918T>A (p.Pro1306=) c.1815T>A (p.Pro605=) c.4257T>A (p.Pro1419=) c.4248T>A (p.Pro1416=) c.4239T>A (p.Pro1413=) c.2577T>A (p.Pro859=) | |
| X | g.108686056T>C | CA517924066 | COL4A5 | c.4242T>C (p.Pro1414=) c.4224T>C (p.Pro1408=) n.736T>C n.645T>C c.38T>C c.4233T>C (p.Pro1411=) c.3918T>C (p.Pro1306=) c.1815T>C (p.Pro605=) c.4257T>C (p.Pro1419=) c.4248T>C (p.Pro1416=) c.4239T>C (p.Pro1413=) c.2577T>C (p.Pro859=) | |
| X | g.108686056T>G | CA517924068 | COL4A5 | c.4242T>G (p.Pro1414=) c.4224T>G (p.Pro1408=) n.736T>G n.645T>G c.38T>G c.4233T>G (p.Pro1411=) c.3918T>G (p.Pro1306=) c.1815T>G (p.Pro605=) c.4257T>G (p.Pro1419=) c.4248T>G (p.Pro1416=) c.4239T>G (p.Pro1413=) c.2577T>G (p.Pro859=) | |
| X | g.108686057G>A | CA413853486 | COL4A5 | c.4243G>A (p.Gly1415Arg) c.4225G>A (p.Gly1409Arg) n.737G>A n.646G>A c.39G>A c.4234G>A (p.Gly1412Arg) c.3919G>A (p.Gly1307Arg) c.1816G>A (p.Gly606Arg) c.4258G>A (p.Gly1420Arg) c.4249G>A (p.Gly1417Arg) c.4240G>A (p.Gly1414Arg) c.2578G>A (p.Gly860Arg) | |
| X | g.108686057G>C | CA413853490 | COL4A5 | c.4243G>C (p.Gly1415Arg) c.4225G>C (p.Gly1409Arg) n.737G>C n.646G>C c.39G>C c.4234G>C (p.Gly1412Arg) c.3919G>C (p.Gly1307Arg) c.1816G>C (p.Gly606Arg) c.4258G>C (p.Gly1420Arg) c.4249G>C (p.Gly1417Arg) c.4240G>C (p.Gly1414Arg) c.2578G>C (p.Gly860Arg) | |
| X | g.108686057G>T | CA413853488 | COL4A5 | c.4243G>T (p.Gly1415Ter) c.4225G>T (p.Gly1409Ter) n.737G>T n.646G>T c.39G>T c.4234G>T (p.Gly1412Ter) c.3919G>T (p.Gly1307Ter) c.1816G>T (p.Gly606Ter) c.4258G>T (p.Gly1420Ter) c.4249G>T (p.Gly1417Ter) c.4240G>T (p.Gly1414Ter) c.2578G>T (p.Gly860Ter) | |
| X | g.108686058del | CA2579677125 | COL4A5 | c.4244del (p.Gly1415AspfsTer?) c.4226del (p.Gly1409AspfsTer?) n.738del n.647del c.40del c.4235del (p.Gly1412AspfsTer?) c.3920del (p.Gly1307AspfsTer?) c.1817del (p.Gly606AspfsTer?) c.4259del (p.Gly1420AspfsTer?) c.4250del (p.Gly1417AspfsTer?) c.4241del (p.Gly1414AspfsTer?) c.2579del (p.Gly860AspfsTer?) | |
| X | g.108686058G>A | CA413853494 | COL4A5 | c.4244G>A (p.Gly1415Glu) c.4226G>A (p.Gly1409Glu) n.738G>A n.647G>A c.40G>A c.4235G>A (p.Gly1412Glu) c.3920G>A (p.Gly1307Glu) c.1817G>A (p.Gly606Glu) c.4259G>A (p.Gly1420Glu) c.4250G>A (p.Gly1417Glu) c.4241G>A (p.Gly1414Glu) c.2579G>A (p.Gly860Glu) | |
| X | g.108686058G>C | CA413853498 | COL4A5 | c.4244G>C (p.Gly1415Ala) c.4226G>C (p.Gly1409Ala) n.738G>C n.647G>C c.40G>C c.4235G>C (p.Gly1412Ala) c.3920G>C (p.Gly1307Ala) c.1817G>C (p.Gly606Ala) c.4259G>C (p.Gly1420Ala) c.4250G>C (p.Gly1417Ala) c.4241G>C (p.Gly1414Ala) c.2579G>C (p.Gly860Ala) | |
| X | g.108686058G>T | CA413853496 | COL4A5 | c.4244G>T (p.Gly1415Val) c.4226G>T (p.Gly1409Val) n.738G>T n.647G>T c.40G>T c.4235G>T (p.Gly1412Val) c.3920G>T (p.Gly1307Val) c.1817G>T (p.Gly606Val) c.4259G>T (p.Gly1420Val) c.4250G>T (p.Gly1417Val) c.4241G>T (p.Gly1414Val) c.2579G>T (p.Gly860Val) | gnomAD v4 |
| X | g.108686059A>C | CA517924071 | COL4A5 | c.4245A>C (p.Gly1415=) c.4227A>C (p.Gly1409=) n.739A>C n.648A>C c.41A>C c.4236A>C (p.Gly1412=) c.3921A>C (p.Gly1307=) c.1818A>C (p.Gly606=) c.4260A>C (p.Gly1420=) c.4251A>C (p.Gly1417=) c.4242A>C (p.Gly1414=) c.2580A>C (p.Gly860=) | ClinVar dbSNP |
| X | g.108686059A>G | CA517924072 | COL4A5 | c.4245A>G (p.Gly1415=) c.4227A>G (p.Gly1409=) n.739A>G n.648A>G c.41A>G c.4236A>G (p.Gly1412=) c.3921A>G (p.Gly1307=) c.1818A>G (p.Gly606=) c.4260A>G (p.Gly1420=) c.4251A>G (p.Gly1417=) c.4242A>G (p.Gly1414=) c.2580A>G (p.Gly860=) | |
| X | g.108686059A>T | CA517924073 | COL4A5 | c.4245A>T (p.Gly1415=) c.4227A>T (p.Gly1409=) n.739A>T n.648A>T c.41A>T c.4236A>T (p.Gly1412=) c.3921A>T (p.Gly1307=) c.1818A>T (p.Gly606=) c.4260A>T (p.Gly1420=) c.4251A>T (p.Gly1417=) c.4242A>T (p.Gly1414=) c.2580A>T (p.Gly860=) | |
| X | g.108686060C>A | CA413853502 | COL4A5 | c.4246C>A (p.Arg1416Ser) c.4228C>A (p.Arg1410Ser) n.740C>A n.649C>A c.42C>A c.4237C>A (p.Arg1413Ser) c.3922C>A (p.Arg1308Ser) c.1819C>A (p.Arg607Ser) c.4261C>A (p.Arg1421Ser) c.4252C>A (p.Arg1418Ser) c.4243C>A (p.Arg1415Ser) c.2581C>A (p.Arg861Ser) | gnomAD v4 |
| X | g.108686060C= | CA2450718758 | COL4A5 | c.4246C= (p.Arg1416=) c.4228C= (p.Arg1410=) n.740C= n.649C= c.42C= c.4237C= (p.Arg1413=) c.3922C= (p.Arg1308=) c.1819C= (p.Arg607=) c.4261C= (p.Arg1421=) c.4252C= (p.Arg1418=) c.4243C= (p.Arg1415=) c.2581C= (p.Arg861=) | |
| X | g.108686060C>G | CA413853503 | COL4A5 | c.4246C>G (p.Arg1416Gly) c.4228C>G (p.Arg1410Gly) n.740C>G n.649C>G c.42C>G c.4237C>G (p.Arg1413Gly) c.3922C>G (p.Arg1308Gly) c.1819C>G (p.Arg607Gly) c.4261C>G (p.Arg1421Gly) c.4252C>G (p.Arg1418Gly) c.4243C>G (p.Arg1415Gly) c.2581C>G (p.Arg861Gly) | |
| X | g.108686060C>T | CA259005 | COL4A5 | c.4246C>T (p.Arg1416Cys) c.4228C>T (p.Arg1410Cys) n.740C>T n.649C>T c.42C>T c.4237C>T (p.Arg1413Cys) c.3922C>T (p.Arg1308Cys) c.1819C>T (p.Arg607Cys) c.4261C>T (p.Arg1421Cys) c.4252C>T (p.Arg1418Cys) c.4243C>T (p.Arg1415Cys) c.2581C>T (p.Arg861Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108686061G>A | CA10489326 | COL4A5 | c.4247G>A (p.Arg1416His) c.4229G>A (p.Arg1410His) n.741G>A n.650G>A c.43G>A c.4238G>A (p.Arg1413His) c.3923G>A (p.Arg1308His) c.1820G>A (p.Arg607His) c.4262G>A (p.Arg1421His) c.4253G>A (p.Arg1418His) c.4244G>A (p.Arg1415His) c.2582G>A (p.Arg861His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108686061G>C | CA413853506 | COL4A5 | c.4247G>C (p.Arg1416Pro) c.4229G>C (p.Arg1410Pro) n.741G>C n.650G>C c.43G>C c.4238G>C (p.Arg1413Pro) c.3923G>C (p.Arg1308Pro) c.1820G>C (p.Arg607Pro) c.4262G>C (p.Arg1421Pro) c.4253G>C (p.Arg1418Pro) c.4244G>C (p.Arg1415Pro) c.2582G>C (p.Arg861Pro) | |
| X | g.108686061G= | CA2450718759 | COL4A5 | c.4247G= (p.Arg1416=) c.4229G= (p.Arg1410=) n.741G= n.650G= c.43G= c.4238G= (p.Arg1413=) c.3923G= (p.Arg1308=) c.1820G= (p.Arg607=) c.4262G= (p.Arg1421=) c.4253G= (p.Arg1418=) c.4244G= (p.Arg1415=) c.2582G= (p.Arg861=) | |
| X | g.108686061G>T | CA413853507 | COL4A5 | c.4247G>T (p.Arg1416Leu) c.4229G>T (p.Arg1410Leu) n.741G>T n.650G>T c.43G>T c.4238G>T (p.Arg1413Leu) c.3923G>T (p.Arg1308Leu) c.1820G>T (p.Arg607Leu) c.4262G>T (p.Arg1421Leu) c.4253G>T (p.Arg1418Leu) c.4244G>T (p.Arg1415Leu) c.2582G>T (p.Arg861Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108686062C>A | CA517924079 | COL4A5 | c.4248C>A (p.Arg1416=) c.4230C>A (p.Arg1410=) n.742C>A n.651C>A c.44C>A c.4239C>A (p.Arg1413=) c.3924C>A (p.Arg1308=) c.1821C>A (p.Arg607=) c.4263C>A (p.Arg1421=) c.4254C>A (p.Arg1418=) c.4245C>A (p.Arg1415=) c.2583C>A (p.Arg861=) | |
| X | g.108686062C= | CA2450718760 | COL4A5 | c.4248C= (p.Arg1416=) c.4230C= (p.Arg1410=) n.742C= n.651C= c.44C= c.4239C= (p.Arg1413=) c.3924C= (p.Arg1308=) c.1821C= (p.Arg607=) c.4263C= (p.Arg1421=) c.4254C= (p.Arg1418=) c.4245C= (p.Arg1415=) c.2583C= (p.Arg861=) | |
| X | g.108686062C>G | CA517924081 | COL4A5 | c.4248C>G (p.Arg1416=) c.4230C>G (p.Arg1410=) n.742C>G n.651C>G c.44C>G c.4239C>G (p.Arg1413=) c.3924C>G (p.Arg1308=) c.1821C>G (p.Arg607=) c.4263C>G (p.Arg1421=) c.4254C>G (p.Arg1418=) c.4245C>G (p.Arg1415=) c.2583C>G (p.Arg861=) | gnomAD v4 |
| X | g.108686062C>T | CA517924082 | COL4A5 | c.4248C>T (p.Arg1416=) c.4230C>T (p.Arg1410=) n.742C>T n.651C>T c.44C>T c.4239C>T (p.Arg1413=) c.3924C>T (p.Arg1308=) c.1821C>T (p.Arg607=) c.4263C>T (p.Arg1421=) c.4254C>T (p.Arg1418=) c.4245C>T (p.Arg1415=) c.2583C>T (p.Arg861=) | ClinVar dbSNP |
| X | g.108686063A>C | CA413853513 | COL4A5 | c.4249A>C (p.Asn1417His) c.4231A>C (p.Asn1411His) n.743A>C n.652A>C c.45A>C c.4240A>C (p.Asn1414His) c.3925A>C (p.Asn1309His) c.1822A>C (p.Asn608His) c.4264A>C (p.Asn1422His) c.4255A>C (p.Asn1419His) c.4246A>C (p.Asn1416His) c.2584A>C (p.Asn862His) | |
| X | g.108686063A>G | CA413853509 | COL4A5 | c.4249A>G (p.Asn1417Asp) c.4231A>G (p.Asn1411Asp) n.743A>G n.652A>G c.45A>G c.4240A>G (p.Asn1414Asp) c.3925A>G (p.Asn1309Asp) c.1822A>G (p.Asn608Asp) c.4264A>G (p.Asn1422Asp) c.4255A>G (p.Asn1419Asp) c.4246A>G (p.Asn1416Asp) c.2584A>G (p.Asn862Asp) | gnomAD v4 |
| X | g.108686063A>T | CA413853511 | COL4A5 | c.4249A>T (p.Asn1417Tyr) c.4231A>T (p.Asn1411Tyr) n.743A>T n.652A>T c.45A>T c.4240A>T (p.Asn1414Tyr) c.3925A>T (p.Asn1309Tyr) c.1822A>T (p.Asn608Tyr) c.4264A>T (p.Asn1422Tyr) c.4255A>T (p.Asn1419Tyr) c.4246A>T (p.Asn1416Tyr) c.2584A>T (p.Asn862Tyr) | |
| X | g.108686064A>C | CA413853517 | COL4A5 | c.4250A>C (p.Asn1417Thr) c.4232A>C (p.Asn1411Thr) n.744A>C n.653A>C c.46A>C c.4241A>C (p.Asn1414Thr) c.3926A>C (p.Asn1309Thr) c.1823A>C (p.Asn608Thr) c.4265A>C (p.Asn1422Thr) c.4256A>C (p.Asn1419Thr) c.4247A>C (p.Asn1416Thr) c.2585A>C (p.Asn862Thr) | |
| X | g.108686064A>G | CA413853519 | COL4A5 | c.4250A>G (p.Asn1417Ser) c.4232A>G (p.Asn1411Ser) n.744A>G n.653A>G c.46A>G c.4241A>G (p.Asn1414Ser) c.3926A>G (p.Asn1309Ser) c.1823A>G (p.Asn608Ser) c.4265A>G (p.Asn1422Ser) c.4256A>G (p.Asn1419Ser) c.4247A>G (p.Asn1416Ser) c.2585A>G (p.Asn862Ser) | gnomAD v4 |
| X | g.108686064A>T | CA413853522 | COL4A5 | c.4250A>T (p.Asn1417Ile) c.4232A>T (p.Asn1411Ile) n.744A>T n.653A>T c.46A>T c.4241A>T (p.Asn1414Ile) c.3926A>T (p.Asn1309Ile) c.1823A>T (p.Asn608Ile) c.4265A>T (p.Asn1422Ile) c.4256A>T (p.Asn1419Ile) c.4247A>T (p.Asn1416Ile) c.2585A>T (p.Asn862Ile) | |
| X | g.108686065T>A | CA413853525 | COL4A5 | c.4251T>A (p.Asn1417Lys) c.4233T>A (p.Asn1411Lys) n.745T>A n.654T>A c.47T>A c.4242T>A (p.Asn1414Lys) c.3927T>A (p.Asn1309Lys) c.1824T>A (p.Asn608Lys) c.4266T>A (p.Asn1422Lys) c.4257T>A (p.Asn1419Lys) c.4248T>A (p.Asn1416Lys) c.2586T>A (p.Asn862Lys) | |
| X | g.108686065T>C | CA517924088 | COL4A5 | c.4251T>C (p.Asn1417=) c.4233T>C (p.Asn1411=) n.745T>C n.654T>C c.47T>C c.4242T>C (p.Asn1414=) c.3927T>C (p.Asn1309=) c.1824T>C (p.Asn608=) c.4266T>C (p.Asn1422=) c.4257T>C (p.Asn1419=) c.4248T>C (p.Asn1416=) c.2586T>C (p.Asn862=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108686065T>G | CA413853526 | COL4A5 | c.4251T>G (p.Asn1417Lys) c.4233T>G (p.Asn1411Lys) n.745T>G n.654T>G c.47T>G c.4242T>G (p.Asn1414Lys) c.3927T>G (p.Asn1309Lys) c.1824T>G (p.Asn608Lys) c.4266T>G (p.Asn1422Lys) c.4257T>G (p.Asn1419Lys) c.4248T>G (p.Asn1416Lys) c.2586T>G (p.Asn862Lys) | |
| X | g.108686065T= | CA2450718762 | COL4A5 | c.4251T= (p.Asn1417=) c.4233T= (p.Asn1411=) n.745T= n.654T= c.47T= c.4242T= (p.Asn1414=) c.3927T= (p.Asn1309=) c.1824T= (p.Asn608=) c.4266T= (p.Asn1422=) c.4257T= (p.Asn1419=) c.4248T= (p.Asn1416=) c.2586T= (p.Asn862=) | |
| X | g.108686065_108686066delinsTG | CA2450718761 | COL4A5 | c.4251_4252delinsTG (p.Asn1417=) c.4233_4234delinsTG (p.Asn1411=) n.745_746delinsTG n.654_655delinsTG c.47_48delinsTG c.4242_4243delinsTG (p.Asn1414=) c.3927_3928delinsTG (p.Asn1309=) c.1824_1825delinsTG (p.Asn608=) c.4266_4267delinsTG (p.Asn1422=) c.4257_4258delinsTG (p.Asn1419=) c.4248_4249delinsTG (p.Asn1416=) c.2586_2587delinsTG (p.Asn862=) | |
| X | g.108686066G>A | CA413853535 | COL4A5 | c.4252G>A (p.Gly1418Arg) c.4234G>A (p.Gly1412Arg) n.746G>A n.655G>A c.48G>A c.4243G>A (p.Gly1415Arg) c.3928G>A (p.Gly1310Arg) c.1825G>A (p.Gly609Arg) c.4267G>A (p.Gly1423Arg) c.4258G>A (p.Gly1420Arg) c.4249G>A (p.Gly1417Arg) c.2587G>A (p.Gly863Arg) | COSMIC |
| X | g.108686066G>C | CA413853532 | COL4A5 | c.4252G>C (p.Gly1418Arg) c.4234G>C (p.Gly1412Arg) n.746G>C n.655G>C c.48G>C c.4243G>C (p.Gly1415Arg) c.3928G>C (p.Gly1310Arg) c.1825G>C (p.Gly609Arg) c.4267G>C (p.Gly1423Arg) c.4258G>C (p.Gly1420Arg) c.4249G>C (p.Gly1417Arg) c.2587G>C (p.Gly863Arg) | |
| X | g.108686066G>T | CA413853529 | COL4A5 | c.4252G>T (p.Gly1418Ter) c.4234G>T (p.Gly1412Ter) n.746G>T n.655G>T c.48G>T c.4243G>T (p.Gly1415Ter) c.3928G>T (p.Gly1310Ter) c.1825G>T (p.Gly609Ter) c.4267G>T (p.Gly1423Ter) c.4258G>T (p.Gly1420Ter) c.4249G>T (p.Gly1417Ter) c.2587G>T (p.Gly863Ter) | |
| X | g.108686067del | CA261092 | COL4A5 | c.4253del (p.Gly1418AspfsTer?) c.4235del (p.Gly1412AspfsTer?) n.747del n.656del c.49del c.4244del (p.Gly1415AspfsTer?) c.3929del (p.Gly1310AspfsTer?) c.1826del (p.Gly609AspfsTer?) c.4268del (p.Gly1423AspfsTer?) c.4259del (p.Gly1420AspfsTer?) c.4250del (p.Gly1417AspfsTer?) c.2588del (p.Gly863AspfsTer?) | dbSNP |
| X | g.108686067G>A | CA413853538 | COL4A5 | c.4253G>A (p.Gly1418Glu) c.4235G>A (p.Gly1412Glu) n.747G>A n.656G>A c.49G>A c.4244G>A (p.Gly1415Glu) c.3929G>A (p.Gly1310Glu) c.1826G>A (p.Gly609Glu) c.4268G>A (p.Gly1423Glu) c.4259G>A (p.Gly1420Glu) c.4250G>A (p.Gly1417Glu) c.2588G>A (p.Gly863Glu) | |
| X | g.108686067G>C | CA413853545 | COL4A5 | c.4253G>C (p.Gly1418Ala) c.4235G>C (p.Gly1412Ala) n.747G>C n.656G>C c.49G>C c.4244G>C (p.Gly1415Ala) c.3929G>C (p.Gly1310Ala) c.1826G>C (p.Gly609Ala) c.4268G>C (p.Gly1423Ala) c.4259G>C (p.Gly1420Ala) c.4250G>C (p.Gly1417Ala) c.2588G>C (p.Gly863Ala) | |
| X | g.108686067G>T | CA413853548 | COL4A5 | c.4253G>T (p.Gly1418Val) c.4235G>T (p.Gly1412Val) n.747G>T n.656G>T c.49G>T c.4244G>T (p.Gly1415Val) c.3929G>T (p.Gly1310Val) c.1826G>T (p.Gly609Val) c.4268G>T (p.Gly1423Val) c.4259G>T (p.Gly1420Val) c.4250G>T (p.Gly1417Val) c.2588G>T (p.Gly863Val) | COSMIC COSMIC |
| X | g.108686068A>C | CA517924094 | COL4A5 | c.4254A>C (p.Gly1418=) c.4236A>C (p.Gly1412=) n.748A>C n.657A>C c.50A>C c.4245A>C (p.Gly1415=) c.3930A>C (p.Gly1310=) c.1827A>C (p.Gly609=) c.4269A>C (p.Gly1423=) c.4260A>C (p.Gly1420=) c.4251A>C (p.Gly1417=) c.2589A>C (p.Gly863=) | |
| X | g.108686068A>G | CA517924095 | COL4A5 | c.4254A>G (p.Gly1418=) c.4236A>G (p.Gly1412=) n.748A>G n.657A>G c.50A>G c.4245A>G (p.Gly1415=) c.3930A>G (p.Gly1310=) c.1827A>G (p.Gly609=) c.4269A>G (p.Gly1423=) c.4260A>G (p.Gly1420=) c.4251A>G (p.Gly1417=) c.2589A>G (p.Gly863=) | |
| X | g.108686068A>T | CA517924096 | COL4A5 | c.4254A>T (p.Gly1418=) c.4236A>T (p.Gly1412=) n.748A>T n.657A>T c.50A>T c.4245A>T (p.Gly1415=) c.3930A>T (p.Gly1310=) c.1827A>T (p.Gly609=) c.4269A>T (p.Gly1423=) c.4260A>T (p.Gly1420=) c.4251A>T (p.Gly1417=) c.2589A>T (p.Gly863=) | |
| X | g.108686069C>A | CA413853552 | COL4A5 | c.4255C>A (p.Leu1419Ile) c.4237C>A (p.Leu1413Ile) n.749C>A n.658C>A c.51C>A c.4246C>A (p.Leu1416Ile) c.3931C>A (p.Leu1311Ile) c.1828C>A (p.Leu610Ile) c.4270C>A (p.Leu1424Ile) c.4261C>A (p.Leu1421Ile) c.4252C>A (p.Leu1418Ile) c.2590C>A (p.Leu864Ile) | |
| X | g.108686069C= | CA2450718763 | COL4A5 | c.4255C= (p.Leu1419=) c.4237C= (p.Leu1413=) n.749C= n.658C= c.51C= c.4246C= (p.Leu1416=) c.3931C= (p.Leu1311=) c.1828C= (p.Leu610=) c.4270C= (p.Leu1424=) c.4261C= (p.Leu1421=) c.4252C= (p.Leu1418=) c.2590C= (p.Leu864=) | |
| X | g.108686069C>G | CA413853555 | COL4A5 | c.4255C>G (p.Leu1419Val) c.4237C>G (p.Leu1413Val) n.749C>G n.658C>G c.51C>G c.4246C>G (p.Leu1416Val) c.3931C>G (p.Leu1311Val) c.1828C>G (p.Leu610Val) c.4270C>G (p.Leu1424Val) c.4261C>G (p.Leu1421Val) c.4252C>G (p.Leu1418Val) c.2590C>G (p.Leu864Val) | |
| X | g.108686069C>T | CA413853557 | COL4A5 | c.4255C>T (p.Leu1419Phe) c.4237C>T (p.Leu1413Phe) n.749C>T n.658C>T c.51C>T c.4246C>T (p.Leu1416Phe) c.3931C>T (p.Leu1311Phe) c.1828C>T (p.Leu610Phe) c.4270C>T (p.Leu1424Phe) c.4261C>T (p.Leu1421Phe) c.4252C>T (p.Leu1418Phe) c.2590C>T (p.Leu864Phe) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108686070T>A | CA413853560 | COL4A5 | c.4256T>A (p.Leu1419His) c.4238T>A (p.Leu1413His) n.750T>A n.659T>A c.52T>A c.4247T>A (p.Leu1416His) c.3932T>A (p.Leu1311His) c.1829T>A (p.Leu610His) c.4271T>A (p.Leu1424His) c.4262T>A (p.Leu1421His) c.4253T>A (p.Leu1418His) c.2591T>A (p.Leu864His) | |
| X | g.108686070T>C | CA413853566 | COL4A5 | c.4256T>C (p.Leu1419Pro) c.4238T>C (p.Leu1413Pro) n.750T>C n.659T>C c.52T>C c.4247T>C (p.Leu1416Pro) c.3932T>C (p.Leu1311Pro) c.1829T>C (p.Leu610Pro) c.4271T>C (p.Leu1424Pro) c.4262T>C (p.Leu1421Pro) c.4253T>C (p.Leu1418Pro) c.2591T>C (p.Leu864Pro) | |
| X | g.108686070T>G | CA413853563 | COL4A5 | c.4256T>G (p.Leu1419Arg) c.4238T>G (p.Leu1413Arg) n.750T>G n.659T>G c.52T>G c.4247T>G (p.Leu1416Arg) c.3932T>G (p.Leu1311Arg) c.1829T>G (p.Leu610Arg) c.4271T>G (p.Leu1424Arg) c.4262T>G (p.Leu1421Arg) c.4253T>G (p.Leu1418Arg) c.2591T>G (p.Leu864Arg) | |
| X | g.108686071C>A | CA517924101 | COL4A5 | c.4257C>A (p.Leu1419=) c.4239C>A (p.Leu1413=) n.751C>A n.660C>A c.53C>A c.4248C>A (p.Leu1416=) c.3933C>A (p.Leu1311=) c.1830C>A (p.Leu610=) c.4272C>A (p.Leu1424=) c.4263C>A (p.Leu1421=) c.4254C>A (p.Leu1418=) c.2592C>A (p.Leu864=) | |
| X | g.108686071C= | CA2450718764 | COL4A5 | c.4257C= (p.Leu1419=) c.4239C= (p.Leu1413=) n.751C= n.660C= c.53C= c.4248C= (p.Leu1416=) c.3933C= (p.Leu1311=) c.1830C= (p.Leu610=) c.4272C= (p.Leu1424=) c.4263C= (p.Leu1421=) c.4254C= (p.Leu1418=) c.2592C= (p.Leu864=) | |
| X | g.108686071C>G | CA517924102 | COL4A5 | c.4257C>G (p.Leu1419=) c.4239C>G (p.Leu1413=) n.751C>G n.660C>G c.53C>G c.4248C>G (p.Leu1416=) c.3933C>G (p.Leu1311=) c.1830C>G (p.Leu610=) c.4272C>G (p.Leu1424=) c.4263C>G (p.Leu1421=) c.4254C>G (p.Leu1418=) c.2592C>G (p.Leu864=) | |
| X | g.108686071C>T | CA259007 | COL4A5 | c.4257C>T (p.Leu1419=) c.4239C>T (p.Leu1413=) n.751C>T n.660C>T c.53C>T c.4248C>T (p.Leu1416=) c.3933C>T (p.Leu1311=) c.1830C>T (p.Leu610=) c.4272C>T (p.Leu1424=) c.4263C>T (p.Leu1421=) c.4254C>T (p.Leu1418=) c.2592C>T (p.Leu864=) | dbSNP |
| X | g.108686072C>A | CA413853571 | COL4A5 | c.4258C>A (p.Pro1420Thr) c.4240C>A (p.Pro1414Thr) n.752C>A n.661C>A c.54C>A c.4249C>A (p.Pro1417Thr) c.3934C>A (p.Pro1312Thr) c.1831C>A (p.Pro611Thr) c.4273C>A (p.Pro1425Thr) c.4264C>A (p.Pro1422Thr) c.4255C>A (p.Pro1419Thr) c.2593C>A (p.Pro865Thr) | |
| X | g.108686072C= | CA2450718765 | COL4A5 | c.4258C= (p.Pro1420=) c.4240C= (p.Pro1414=) n.752C= n.661C= c.54C= c.4249C= (p.Pro1417=) c.3934C= (p.Pro1312=) c.1831C= (p.Pro611=) c.4273C= (p.Pro1425=) c.4264C= (p.Pro1422=) c.4255C= (p.Pro1419=) c.2593C= (p.Pro865=) | |
| X | g.108686072C>G | CA413853574 | COL4A5 | c.4258C>G (p.Pro1420Ala) c.4240C>G (p.Pro1414Ala) n.752C>G n.661C>G c.54C>G c.4249C>G (p.Pro1417Ala) c.3934C>G (p.Pro1312Ala) c.1831C>G (p.Pro611Ala) c.4273C>G (p.Pro1425Ala) c.4264C>G (p.Pro1422Ala) c.4255C>G (p.Pro1419Ala) c.2593C>G (p.Pro865Ala) | ClinVar |
| X | g.108686072C>T | CA413853575 | COL4A5 | c.4258C>T (p.Pro1420Ser) c.4240C>T (p.Pro1414Ser) n.752C>T n.661C>T c.54C>T c.4249C>T (p.Pro1417Ser) c.3934C>T (p.Pro1312Ser) c.1831C>T (p.Pro611Ser) c.4273C>T (p.Pro1425Ser) c.4264C>T (p.Pro1422Ser) c.4255C>T (p.Pro1419Ser) c.2593C>T (p.Pro865Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108686073C>A | CA413853579 | COL4A5 | c.4259C>A (p.Pro1420His) c.4241C>A (p.Pro1414His) n.753C>A n.662C>A c.55C>A c.4250C>A (p.Pro1417His) c.3935C>A (p.Pro1312His) c.1832C>A (p.Pro611His) c.4274C>A (p.Pro1425His) c.4265C>A (p.Pro1422His) c.4256C>A (p.Pro1419His) c.2594C>A (p.Pro865His) | |
| X | g.108686073C>G | CA413853584 | COL4A5 | c.4259C>G (p.Pro1420Arg) c.4241C>G (p.Pro1414Arg) n.753C>G n.662C>G c.55C>G c.4250C>G (p.Pro1417Arg) c.3935C>G (p.Pro1312Arg) c.1832C>G (p.Pro611Arg) c.4274C>G (p.Pro1425Arg) c.4265C>G (p.Pro1422Arg) c.4256C>G (p.Pro1419Arg) c.2594C>G (p.Pro865Arg) | |
| X | g.108686073C>T | CA413853582 | COL4A5 | c.4259C>T (p.Pro1420Leu) c.4241C>T (p.Pro1414Leu) n.753C>T n.662C>T c.55C>T c.4250C>T (p.Pro1417Leu) c.3935C>T (p.Pro1312Leu) c.1832C>T (p.Pro611Leu) c.4274C>T (p.Pro1425Leu) c.4265C>T (p.Pro1422Leu) c.4256C>T (p.Pro1419Leu) c.2594C>T (p.Pro865Leu) | gnomAD v4 |
| X | g.108686074T>A | CA517924108 | COL4A5 | c.4260T>A (p.Pro1420=) c.4242T>A (p.Pro1414=) n.754T>A n.663T>A c.56T>A c.4251T>A (p.Pro1417=) c.3936T>A (p.Pro1312=) c.1833T>A (p.Pro611=) c.4275T>A (p.Pro1425=) c.4266T>A (p.Pro1422=) c.4257T>A (p.Pro1419=) c.2595T>A (p.Pro865=) | |
| X | g.108686074T>C | CA517924109 | COL4A5 | c.4260T>C (p.Pro1420=) c.4242T>C (p.Pro1414=) n.754T>C n.663T>C c.56T>C c.4251T>C (p.Pro1417=) c.3936T>C (p.Pro1312=) c.1833T>C (p.Pro611=) c.4275T>C (p.Pro1425=) c.4266T>C (p.Pro1422=) c.4257T>C (p.Pro1419=) c.2595T>C (p.Pro865=) | dbSNP |
| X | g.108686074T>G | CA517924110 | COL4A5 | c.4260T>G (p.Pro1420=) c.4242T>G (p.Pro1414=) n.754T>G n.663T>G c.56T>G c.4251T>G (p.Pro1417=) c.3936T>G (p.Pro1312=) c.1833T>G (p.Pro611=) c.4275T>G (p.Pro1425=) c.4266T>G (p.Pro1422=) c.4257T>G (p.Pro1419=) c.2595T>G (p.Pro865=) | |
| X | g.108686074T= | CA2450718766 | COL4A5 | c.4260T= (p.Pro1420=) c.4242T= (p.Pro1414=) n.754T= n.663T= c.56T= c.4251T= (p.Pro1417=) c.3936T= (p.Pro1312=) c.1833T= (p.Pro611=) c.4275T= (p.Pro1425=) c.4266T= (p.Pro1422=) c.4257T= (p.Pro1419=) c.2595T= (p.Pro865=) | |
| X | g.108686075G>A | CA413853587 | COL4A5 | c.4261G>A (p.Gly1421Ser) c.4243G>A (p.Gly1415Ser) n.755G>A n.664G>A c.57G>A c.4252G>A (p.Gly1418Ser) c.3937G>A (p.Gly1313Ser) c.1834G>A (p.Gly612Ser) c.4276G>A (p.Gly1426Ser) c.4267G>A (p.Gly1423Ser) c.4258G>A (p.Gly1420Ser) c.2596G>A (p.Gly866Ser) | |
| X | g.108686075G>C | CA413853591 | COL4A5 | c.4261G>C (p.Gly1421Arg) c.4243G>C (p.Gly1415Arg) n.755G>C n.664G>C c.57G>C c.4252G>C (p.Gly1418Arg) c.3937G>C (p.Gly1313Arg) c.1834G>C (p.Gly612Arg) c.4276G>C (p.Gly1426Arg) c.4267G>C (p.Gly1423Arg) c.4258G>C (p.Gly1420Arg) c.2596G>C (p.Gly866Arg) | |
| X | g.108686075G>T | CA413853594 | COL4A5 | c.4261G>T (p.Gly1421Cys) c.4243G>T (p.Gly1415Cys) n.755G>T n.664G>T c.57G>T c.4252G>T (p.Gly1418Cys) c.3937G>T (p.Gly1313Cys) c.1834G>T (p.Gly612Cys) c.4276G>T (p.Gly1426Cys) c.4267G>T (p.Gly1423Cys) c.4258G>T (p.Gly1420Cys) c.2596G>T (p.Gly866Cys) | |
| X | g.108686076G>A | CA413853598 | COL4A5 | c.4262G>A (p.Gly1421Asp) c.4244G>A (p.Gly1415Asp) n.756G>A n.665G>A c.58G>A c.4253G>A (p.Gly1418Asp) c.3938G>A (p.Gly1313Asp) c.1835G>A (p.Gly612Asp) c.4277G>A (p.Gly1426Asp) c.4268G>A (p.Gly1423Asp) c.4259G>A (p.Gly1420Asp) c.2597G>A (p.Gly866Asp) | |
| X | g.108686076G>C | CA413853600 | COL4A5 | c.4262G>C (p.Gly1421Ala) c.4244G>C (p.Gly1415Ala) n.756G>C n.665G>C c.58G>C c.4253G>C (p.Gly1418Ala) c.3938G>C (p.Gly1313Ala) c.1835G>C (p.Gly612Ala) c.4277G>C (p.Gly1426Ala) c.4268G>C (p.Gly1423Ala) c.4259G>C (p.Gly1420Ala) c.2597G>C (p.Gly866Ala) | |
| X | g.108686076G>T | CA413853603 | COL4A5 | c.4262G>T (p.Gly1421Val) c.4244G>T (p.Gly1415Val) n.756G>T n.665G>T c.58G>T c.4253G>T (p.Gly1418Val) c.3938G>T (p.Gly1313Val) c.1835G>T (p.Gly612Val) c.4277G>T (p.Gly1426Val) c.4268G>T (p.Gly1423Val) c.4259G>T (p.Gly1420Val) c.2597G>T (p.Gly866Val) | |
| X | g.108686077C>A | CA517924115 | COL4A5 | c.4263C>A (p.Gly1421=) c.4245C>A (p.Gly1415=) n.757C>A n.666C>A c.59C>A c.4254C>A (p.Gly1418=) c.3939C>A (p.Gly1313=) c.1836C>A (p.Gly612=) c.4278C>A (p.Gly1426=) c.4269C>A (p.Gly1423=) c.4260C>A (p.Gly1420=) c.2598C>A (p.Gly866=) | |
| X | g.108686077C= | CA2450718767 | COL4A5 | c.4263C= (p.Gly1421=) c.4245C= (p.Gly1415=) n.757C= n.666C= c.59C= c.4254C= (p.Gly1418=) c.3939C= (p.Gly1313=) c.1836C= (p.Gly612=) c.4278C= (p.Gly1426=) c.4269C= (p.Gly1423=) c.4260C= (p.Gly1420=) c.2598C= (p.Gly866=) | |
| X | g.108686077C>G | CA517924114 | COL4A5 | c.4263C>G (p.Gly1421=) c.4245C>G (p.Gly1415=) n.757C>G n.666C>G c.59C>G c.4254C>G (p.Gly1418=) c.3939C>G (p.Gly1313=) c.1836C>G (p.Gly612=) c.4278C>G (p.Gly1426=) c.4269C>G (p.Gly1423=) c.4260C>G (p.Gly1420=) c.2598C>G (p.Gly866=) | |
| X | g.108686077C>T | CA10489327 | COL4A5 | c.4263C>T (p.Gly1421=) c.4245C>T (p.Gly1415=) n.757C>T n.666C>T c.59C>T c.4254C>T (p.Gly1418=) c.3939C>T (p.Gly1313=) c.1836C>T (p.Gly612=) c.4278C>T (p.Gly1426=) c.4269C>T (p.Gly1423=) c.4260C>T (p.Gly1420=) c.2598C>T (p.Gly866=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108686078T>A | CA413853608 | COL4A5 | c.4264T>A (p.Phe1422Ile) c.4246T>A (p.Phe1416Ile) n.758T>A n.667T>A c.60T>A c.4255T>A (p.Phe1419Ile) c.3940T>A (p.Phe1314Ile) c.1837T>A (p.Phe613Ile) c.4279T>A (p.Phe1427Ile) c.4270T>A (p.Phe1424Ile) c.4261T>A (p.Phe1421Ile) c.2599T>A (p.Phe867Ile) | |
| X | g.108686078T>C | CA413853611 | COL4A5 | c.4264T>C (p.Phe1422Leu) c.4246T>C (p.Phe1416Leu) n.758T>C n.667T>C c.60T>C c.4255T>C (p.Phe1419Leu) c.3940T>C (p.Phe1314Leu) c.1837T>C (p.Phe613Leu) c.4279T>C (p.Phe1427Leu) c.4270T>C (p.Phe1424Leu) c.4261T>C (p.Phe1421Leu) c.2599T>C (p.Phe867Leu) | |
| X | g.108686078T>G | CA413853614 | COL4A5 | c.4264T>G (p.Phe1422Val) c.4246T>G (p.Phe1416Val) n.758T>G n.667T>G c.60T>G c.4255T>G (p.Phe1419Val) c.3940T>G (p.Phe1314Val) c.1837T>G (p.Phe613Val) c.4279T>G (p.Phe1427Val) c.4270T>G (p.Phe1424Val) c.4261T>G (p.Phe1421Val) c.2599T>G (p.Phe867Val) | |
| X | g.108686079T>A | CA413853617 | COL4A5 | c.4265T>A (p.Phe1422Tyr) c.4247T>A (p.Phe1416Tyr) n.759T>A n.668T>A c.61T>A c.4256T>A (p.Phe1419Tyr) c.3941T>A (p.Phe1314Tyr) c.1838T>A (p.Phe613Tyr) c.4280T>A (p.Phe1427Tyr) c.4271T>A (p.Phe1424Tyr) c.4262T>A (p.Phe1421Tyr) c.2600T>A (p.Phe867Tyr) | |
| X | g.108686079T>C | CA413853621 | COL4A5 | c.4265T>C (p.Phe1422Ser) c.4247T>C (p.Phe1416Ser) n.759T>C n.668T>C c.61T>C c.4256T>C (p.Phe1419Ser) c.3941T>C (p.Phe1314Ser) c.1838T>C (p.Phe613Ser) c.4280T>C (p.Phe1427Ser) c.4271T>C (p.Phe1424Ser) c.4262T>C (p.Phe1421Ser) c.2600T>C (p.Phe867Ser) | |
| X | g.108686079T>G | CA413853623 | COL4A5 | c.4265T>G (p.Phe1422Cys) c.4247T>G (p.Phe1416Cys) n.759T>G n.668T>G c.61T>G c.4256T>G (p.Phe1419Cys) c.3941T>G (p.Phe1314Cys) c.1838T>G (p.Phe613Cys) c.4280T>G (p.Phe1427Cys) c.4271T>G (p.Phe1424Cys) c.4262T>G (p.Phe1421Cys) c.2600T>G (p.Phe867Cys) | |
| X | g.108686080T>A | CA413853630 | COL4A5 | c.4266T>A (p.Phe1422Leu) c.4248T>A (p.Phe1416Leu) n.760T>A n.669T>A c.62T>A c.4257T>A (p.Phe1419Leu) c.3942T>A (p.Phe1314Leu) c.1839T>A (p.Phe613Leu) c.4281T>A (p.Phe1427Leu) c.4272T>A (p.Phe1424Leu) c.4263T>A (p.Phe1421Leu) c.2601T>A (p.Phe867Leu) | gnomAD v4 |
| X | g.108686080T>C | CA10489328 | COL4A5 | c.4266T>C (p.Phe1422=) c.4248T>C (p.Phe1416=) n.760T>C n.669T>C c.62T>C c.4257T>C (p.Phe1419=) c.3942T>C (p.Phe1314=) c.1839T>C (p.Phe613=) c.4281T>C (p.Phe1427=) c.4272T>C (p.Phe1424=) c.4263T>C (p.Phe1421=) c.2601T>C (p.Phe867=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108686080T>G | CA413853627 | COL4A5 | c.4266T>G (p.Phe1422Leu) c.4248T>G (p.Phe1416Leu) n.760T>G n.669T>G c.62T>G c.4257T>G (p.Phe1419Leu) c.3942T>G (p.Phe1314Leu) c.1839T>G (p.Phe613Leu) c.4281T>G (p.Phe1427Leu) c.4272T>G (p.Phe1424Leu) c.4263T>G (p.Phe1421Leu) c.2601T>G (p.Phe867Leu) | |
| X | g.108686080T= | CA2450718768 | COL4A5 | c.4266T= (p.Phe1422=) c.4248T= (p.Phe1416=) n.760T= n.669T= c.62T= c.4257T= (p.Phe1419=) c.3942T= (p.Phe1314=) c.1839T= (p.Phe613=) c.4281T= (p.Phe1427=) c.4272T= (p.Phe1424=) c.4263T= (p.Phe1421=) c.2601T= (p.Phe867=) | |
| X | g.108686081G>A | CA10489329 | COL4A5 | c.4267G>A (p.Asp1423Asn) c.4249G>A (p.Asp1417Asn) n.761G>A n.670G>A c.63G>A c.4258G>A (p.Asp1420Asn) c.3943G>A (p.Asp1315Asn) c.1840G>A (p.Asp614Asn) c.4282G>A (p.Asp1428Asn) c.4273G>A (p.Asp1425Asn) c.4264G>A (p.Asp1422Asn) c.2602G>A (p.Asp868Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108686081G>C | CA413853635 | COL4A5 | c.4267G>C (p.Asp1423His) c.4249G>C (p.Asp1417His) n.761G>C n.670G>C c.63G>C c.4258G>C (p.Asp1420His) c.3943G>C (p.Asp1315His) c.1840G>C (p.Asp614His) c.4282G>C (p.Asp1428His) c.4273G>C (p.Asp1425His) c.4264G>C (p.Asp1422His) c.2602G>C (p.Asp868His) | COSMIC COSMIC |
| X | g.108686081G= | CA2450718769 | COL4A5 | c.4267G= (p.Asp1423=) c.4249G= (p.Asp1417=) n.761G= n.670G= c.63G= c.4258G= (p.Asp1420=) c.3943G= (p.Asp1315=) c.1840G= (p.Asp614=) c.4282G= (p.Asp1428=) c.4273G= (p.Asp1425=) c.4264G= (p.Asp1422=) c.2602G= (p.Asp868=) | |
| X | g.108686081G>T | CA413853638 | COL4A5 | c.4267G>T (p.Asp1423Tyr) c.4249G>T (p.Asp1417Tyr) n.761G>T n.670G>T c.63G>T c.4258G>T (p.Asp1420Tyr) c.3943G>T (p.Asp1315Tyr) c.1840G>T (p.Asp614Tyr) c.4282G>T (p.Asp1428Tyr) c.4273G>T (p.Asp1425Tyr) c.4264G>T (p.Asp1422Tyr) c.2602G>T (p.Asp868Tyr) | gnomAD v4 |