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.108680856C>A | CA2450716888 | COL4A5 | c.4016-29C>A (n.4016-29C>A) c.3998-29C>A (n.3998-29C>A) n.510-29C>A n.419-29C>A c.4007-29C>A (n.4007-29C>A) c.3692-29C>A (n.3692-29C>A) c.1589-29C>A (n.1589-29C>A) c.4031-29C>A (n.4031-29C>A) c.4022-29C>A (n.4022-29C>A) c.4013-29C>A (n.4013-29C>A) c.2351-29C>A (n.2351-29C>A) | dbSNP gnomAD v4 |
| X | g.108680856C= | CA2450716887 | COL4A5 | c.4016-29C= (n.4016-29C=) c.3998-29C= (n.3998-29C=) n.510-29C= n.419-29C= c.4007-29C= (n.4007-29C=) c.3692-29C= (n.3692-29C=) c.1589-29C= (n.1589-29C=) c.4031-29C= (n.4031-29C=) c.4022-29C= (n.4022-29C=) c.4013-29C= (n.4013-29C=) c.2351-29C= (n.2351-29C=) | |
| X | g.108680857C>A | CA2694442729 | COL4A5 | c.4016-28C>A (n.4016-28C>A) c.3998-28C>A (n.3998-28C>A) n.510-28C>A n.419-28C>A c.4007-28C>A (n.4007-28C>A) c.3692-28C>A (n.3692-28C>A) c.1589-28C>A (n.1589-28C>A) c.4031-28C>A (n.4031-28C>A) c.4022-28C>A (n.4022-28C>A) c.4013-28C>A (n.4013-28C>A) c.2351-28C>A (n.2351-28C>A) | gnomAD v4 |
| X | g.108680857C>T | CA2542764238 | COL4A5 | c.4016-28C>T (n.4016-28C>T) c.3998-28C>T (n.3998-28C>T) n.510-28C>T n.419-28C>T c.4007-28C>T (n.4007-28C>T) c.3692-28C>T (n.3692-28C>T) c.1589-28C>T (n.1589-28C>T) c.4031-28C>T (n.4031-28C>T) c.4022-28C>T (n.4022-28C>T) c.4013-28C>T (n.4013-28C>T) c.2351-28C>T (n.2351-28C>T) | gnomAD v4 |
| X | g.108680858A>G | CA2579677071 | COL4A5 | c.4016-27A>G (n.4016-27A>G) c.3998-27A>G (n.3998-27A>G) n.510-27A>G n.419-27A>G c.4007-27A>G (n.4007-27A>G) c.3692-27A>G (n.3692-27A>G) c.1589-27A>G (n.1589-27A>G) c.4031-27A>G (n.4031-27A>G) c.4022-27A>G (n.4022-27A>G) c.4013-27A>G (n.4013-27A>G) c.2351-27A>G (n.2351-27A>G) | gnomAD v4 |
| X | g.108680860A= | CA2450716889 | COL4A5 | c.4016-25A= (n.4016-25A=) c.3998-25A= (n.3998-25A=) n.510-25A= n.419-25A= c.4007-25A= (n.4007-25A=) c.3692-25A= (n.3692-25A=) c.1589-25A= (n.1589-25A=) c.4031-25A= (n.4031-25A=) c.4022-25A= (n.4022-25A=) c.4013-25A= (n.4013-25A=) c.2351-25A= (n.2351-25A=) | |
| X | g.108680860A>G | CA1136193068 | COL4A5 | c.4016-25A>G (n.4016-25A>G) c.3998-25A>G (n.3998-25A>G) n.510-25A>G n.419-25A>G c.4007-25A>G (n.4007-25A>G) c.3692-25A>G (n.3692-25A>G) c.1589-25A>G (n.1589-25A>G) c.4031-25A>G (n.4031-25A>G) c.4022-25A>G (n.4022-25A>G) c.4013-25A>G (n.4013-25A>G) c.2351-25A>G (n.2351-25A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108680863del | CA2579677072 | COL4A5 | c.4016-22del (n.4016-22del) c.3998-22del (n.3998-22del) n.510-22del n.419-22del c.4007-22del (n.4007-22del) c.3692-22del (n.3692-22del) c.1589-22del (n.1589-22del) c.4031-22del (n.4031-22del) c.4022-22del (n.4022-22del) c.4013-22del (n.4013-22del) c.2351-22del (n.2351-22del) | |
| X | g.108680862A>C | CA2694442730 | COL4A5 | c.4016-23A>C (n.4016-23A>C) c.3998-23A>C (n.3998-23A>C) n.510-23A>C n.419-23A>C c.4007-23A>C (n.4007-23A>C) c.3692-23A>C (n.3692-23A>C) c.1589-23A>C (n.1589-23A>C) c.4031-23A>C (n.4031-23A>C) c.4022-23A>C (n.4022-23A>C) c.4013-23A>C (n.4013-23A>C) c.2351-23A>C (n.2351-23A>C) | gnomAD v4 |
| X | g.108680864C>T | CA2579677073 | COL4A5 | c.4016-21C>T (n.4016-21C>T) c.3998-21C>T (n.3998-21C>T) n.510-21C>T n.419-21C>T c.4007-21C>T (n.4007-21C>T) c.3692-21C>T (n.3692-21C>T) c.1589-21C>T (n.1589-21C>T) c.4031-21C>T (n.4031-21C>T) c.4022-21C>T (n.4022-21C>T) c.4013-21C>T (n.4013-21C>T) c.2351-21C>T (n.2351-21C>T) | |
| X | g.108680865T>C | CA2697544692 | COL4A5 | c.4016-20T>C (n.4016-20T>C) c.3998-20T>C (n.3998-20T>C) n.510-20T>C n.419-20T>C c.4007-20T>C (n.4007-20T>C) c.3692-20T>C (n.3692-20T>C) c.1589-20T>C (n.1589-20T>C) c.4031-20T>C (n.4031-20T>C) c.4022-20T>C (n.4022-20T>C) c.4013-20T>C (n.4013-20T>C) c.2351-20T>C (n.2351-20T>C) | ClinVar |
| X | g.108680866G= | CA2450716890 | COL4A5 | c.4016-19G= (n.4016-19G=) c.3998-19G= (n.3998-19G=) n.510-19G= n.419-19G= c.4007-19G= (n.4007-19G=) c.3692-19G= (n.3692-19G=) c.1589-19G= (n.1589-19G=) c.4031-19G= (n.4031-19G=) c.4022-19G= (n.4022-19G=) c.4013-19G= (n.4013-19G=) c.2351-19G= (n.2351-19G=) | |
| X | g.108680867dup | CA10489272 | COL4A5 | c.4016-18dup (n.4016-18dup) c.3998-18dup (n.3998-18dup) n.510-18dup n.419-18dup c.4007-18dup (n.4007-18dup) c.3692-18dup (n.3692-18dup) c.1589-18dup (n.1589-18dup) c.4031-18dup (n.4031-18dup) c.4022-18dup (n.4022-18dup) c.4013-18dup (n.4013-18dup) c.2351-18dup (n.2351-18dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680868A>G | CA658426996 | COL4A5 | c.4016-17A>G (n.4016-17A>G) c.3998-17A>G (n.3998-17A>G) n.510-17A>G n.419-17A>G c.4007-17A>G (n.4007-17A>G) c.3692-17A>G (n.3692-17A>G) c.1589-17A>G (n.1589-17A>G) c.4031-17A>G (n.4031-17A>G) c.4022-17A>G (n.4022-17A>G) c.4013-17A>G (n.4013-17A>G) c.2351-17A>G (n.2351-17A>G) | ClinVar gnomAD v4 COSMIC |
| X | g.108680869T>G | CA10489273 | COL4A5 | c.4016-16T>G (n.4016-16T>G) c.3998-16T>G (n.3998-16T>G) n.510-16T>G n.419-16T>G c.4007-16T>G (n.4007-16T>G) c.3692-16T>G (n.3692-16T>G) c.1589-16T>G (n.1589-16T>G) c.4031-16T>G (n.4031-16T>G) c.4022-16T>G (n.4022-16T>G) c.4013-16T>G (n.4013-16T>G) c.2351-16T>G (n.2351-16T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680869T= | CA2450716891 | COL4A5 | c.4016-16T= (n.4016-16T=) c.3998-16T= (n.3998-16T=) n.510-16T= n.419-16T= c.4007-16T= (n.4007-16T=) c.3692-16T= (n.3692-16T=) c.1589-16T= (n.1589-16T=) c.4031-16T= (n.4031-16T=) c.4022-16T= (n.4022-16T=) c.4013-16T= (n.4013-16T=) c.2351-16T= (n.2351-16T=) | |
| X | g.108680870G>A | CA10489274 | COL4A5 | c.4016-15G>A (n.4016-15G>A) c.3998-15G>A (n.3998-15G>A) n.510-15G>A n.419-15G>A c.4007-15G>A (n.4007-15G>A) c.3692-15G>A (n.3692-15G>A) c.1589-15G>A (n.1589-15G>A) c.4031-15G>A (n.4031-15G>A) c.4022-15G>A (n.4022-15G>A) c.4013-15G>A (n.4013-15G>A) c.2351-15G>A (n.2351-15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680870G= | CA2450716892 | COL4A5 | c.4016-15G= (n.4016-15G=) c.3998-15G= (n.3998-15G=) n.510-15G= n.419-15G= c.4007-15G= (n.4007-15G=) c.3692-15G= (n.3692-15G=) c.1589-15G= (n.1589-15G=) c.4031-15G= (n.4031-15G=) c.4022-15G= (n.4022-15G=) c.4013-15G= (n.4013-15G=) c.2351-15G= (n.2351-15G=) | |
| X | g.108680871T>A | CA2694442732 | COL4A5 | c.4016-14T>A (n.4016-14T>A) c.3998-14T>A (n.3998-14T>A) n.510-14T>A n.419-14T>A c.4007-14T>A (n.4007-14T>A) c.3692-14T>A (n.3692-14T>A) c.1589-14T>A (n.1589-14T>A) c.4031-14T>A (n.4031-14T>A) c.4022-14T>A (n.4022-14T>A) c.4013-14T>A (n.4013-14T>A) c.2351-14T>A (n.2351-14T>A) | gnomAD v4 |
| X | g.108680871T>C | CA2697544693 | COL4A5 | c.4016-14T>C (n.4016-14T>C) c.3998-14T>C (n.3998-14T>C) n.510-14T>C n.419-14T>C c.4007-14T>C (n.4007-14T>C) c.3692-14T>C (n.3692-14T>C) c.1589-14T>C (n.1589-14T>C) c.4031-14T>C (n.4031-14T>C) c.4022-14T>C (n.4022-14T>C) c.4013-14T>C (n.4013-14T>C) c.2351-14T>C (n.2351-14T>C) | ClinVar |
| X | g.108680872A= | CA2450716893 | COL4A5 | c.4016-13A= (n.4016-13A=) c.3998-13A= (n.3998-13A=) n.510-13A= n.419-13A= c.4007-13A= (n.4007-13A=) c.3692-13A= (n.3692-13A=) c.1589-13A= (n.1589-13A=) c.4031-13A= (n.4031-13A=) c.4022-13A= (n.4022-13A=) c.4013-13A= (n.4013-13A=) c.2351-13A= (n.2351-13A=) | |
| X | g.108680872A>G | CA10489275 | COL4A5 | c.4016-13A>G (n.4016-13A>G) c.3998-13A>G (n.3998-13A>G) n.510-13A>G n.419-13A>G c.4007-13A>G (n.4007-13A>G) c.3692-13A>G (n.3692-13A>G) c.1589-13A>G (n.1589-13A>G) c.4031-13A>G (n.4031-13A>G) c.4022-13A>G (n.4022-13A>G) c.4013-13A>G (n.4013-13A>G) c.2351-13A>G (n.2351-13A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108680873C>A | CA2579677074 | COL4A5 | c.4016-12C>A (n.4016-12C>A) c.3998-12C>A (n.3998-12C>A) n.510-12C>A n.419-12C>A c.4007-12C>A (n.4007-12C>A) c.3692-12C>A (n.3692-12C>A) c.1589-12C>A (n.1589-12C>A) c.4031-12C>A (n.4031-12C>A) c.4022-12C>A (n.4022-12C>A) c.4013-12C>A (n.4013-12C>A) c.2351-12C>A (n.2351-12C>A) | |
| X | g.108680874_108680875delinsCT | CA2450716894 | COL4A5 | c.4016-11_4016-10delinsCT (n.4016-11_4016-10delinsCT) c.3998-11_3998-10delinsCT (n.3998-11_3998-10delinsCT) n.510-11_510-10delinsCT n.419-11_419-10delinsCT c.4007-11_4007-10delinsCT (n.4007-11_4007-10delinsCT) c.3692-11_3692-10delinsCT (n.3692-11_3692-10delinsCT) c.1589-11_1589-10delinsCT (n.1589-11_1589-10delinsCT) c.4031-11_4031-10delinsCT (n.4031-11_4031-10delinsCT) c.4022-11_4022-10delinsCT (n.4022-11_4022-10delinsCT) c.4013-11_4013-10delinsCT (n.4013-11_4013-10delinsCT) c.2351-11_2351-10delinsCT (n.2351-11_2351-10delinsCT) | |
| X | g.108680875T>G | CA2694442733 | COL4A5 | c.4016-10T>G (n.4016-10T>G) c.3998-10T>G (n.3998-10T>G) n.510-10T>G n.419-10T>G c.4007-10T>G (n.4007-10T>G) c.3692-10T>G (n.3692-10T>G) c.1589-10T>G (n.1589-10T>G) c.4031-10T>G (n.4031-10T>G) c.4022-10T>G (n.4022-10T>G) c.4013-10T>G (n.4013-10T>G) c.2351-10T>G (n.2351-10T>G) | gnomAD v4 |
| X | g.108680876del | CA10489276 | COL4A5 | c.4016-9del (n.4016-9del) c.3998-9del (n.3998-9del) n.510-9del n.419-9del c.4007-9del (n.4007-9del) c.3692-9del (n.3692-9del) c.1589-9del (n.1589-9del) c.4031-9del (n.4031-9del) c.4022-9del (n.4022-9del) c.4013-9del (n.4013-9del) c.2351-9del (n.2351-9del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680878T>C | CA643637005 | COL4A5 | c.4016-7T>C (n.4016-7T>C) c.3998-7T>C (n.3998-7T>C) n.510-7T>C n.419-7T>C c.4007-7T>C (n.4007-7T>C) c.3692-7T>C (n.3692-7T>C) c.1589-7T>C (n.1589-7T>C) c.4031-7T>C (n.4031-7T>C) c.4022-7T>C (n.4022-7T>C) c.4013-7T>C (n.4013-7T>C) c.2351-7T>C (n.2351-7T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108680878T= | CA2450716895 | COL4A5 | c.4016-7T= (n.4016-7T=) c.3998-7T= (n.3998-7T=) n.510-7T= n.419-7T= c.4007-7T= (n.4007-7T=) c.3692-7T= (n.3692-7T=) c.1589-7T= (n.1589-7T=) c.4031-7T= (n.4031-7T=) c.4022-7T= (n.4022-7T=) c.4013-7T= (n.4013-7T=) c.2351-7T= (n.2351-7T=) | |
| X | g.108680883del | CA2573130300 | COL4A5 | c.4016-2del (n.4016-2del) c.3998-2del (n.3998-2del) n.510-2del n.419-2del c.4007-2del (n.4007-2del) c.3692-2del (n.3692-2del) c.1589-2del (n.1589-2del) c.4031-2del (n.4031-2del) c.4022-2del (n.4022-2del) c.4013-2del (n.4013-2del) c.2351-2del (n.2351-2del) | |
| X | g.108680883A= | CA2450716896 | COL4A5 | c.4016-2A= (n.4016-2A=) c.3998-2A= (n.3998-2A=) n.510-2A= n.419-2A= c.4007-2A= (n.4007-2A=) c.3692-2A= (n.3692-2A=) c.1589-2A= (n.1589-2A=) c.4031-2A= (n.4031-2A=) c.4022-2A= (n.4022-2A=) c.4013-2A= (n.4013-2A=) c.2351-2A= (n.2351-2A=) | |
| X | g.108680883A>C | CA413851086 | COL4A5 | c.4016-2A>C (n.4016-2A>C) c.3998-2A>C (n.3998-2A>C) n.510-2A>C n.419-2A>C c.4007-2A>C (n.4007-2A>C) c.3692-2A>C (n.3692-2A>C) c.1589-2A>C (n.1589-2A>C) c.4031-2A>C (n.4031-2A>C) c.4022-2A>C (n.4022-2A>C) c.4013-2A>C (n.4013-2A>C) c.2351-2A>C (n.2351-2A>C) | |
| X | g.108680883A>G | CA258977 | COL4A5 | c.4016-2A>G (n.4016-2A>G) c.3998-2A>G (n.3998-2A>G) n.510-2A>G n.419-2A>G c.4007-2A>G (n.4007-2A>G) c.3692-2A>G (n.3692-2A>G) c.1589-2A>G (n.1589-2A>G) c.4031-2A>G (n.4031-2A>G) c.4022-2A>G (n.4022-2A>G) c.4013-2A>G (n.4013-2A>G) c.2351-2A>G (n.2351-2A>G) | dbSNP COSMIC |
| X | g.108680883A>T | CA258976 | COL4A5 | c.4016-2A>T (n.4016-2A>T) c.3998-2A>T (n.3998-2A>T) n.510-2A>T n.419-2A>T c.4007-2A>T (n.4007-2A>T) c.3692-2A>T (n.3692-2A>T) c.1589-2A>T (n.1589-2A>T) c.4031-2A>T (n.4031-2A>T) c.4022-2A>T (n.4022-2A>T) c.4013-2A>T (n.4013-2A>T) c.2351-2A>T (n.2351-2A>T) | dbSNP |
| X | g.108680884G>A | CA276135 | COL4A5 | c.4016-1G>A (n.4016-1G>A) c.3998-1G>A (n.3998-1G>A) n.510-1G>A n.419-1G>A c.4007-1G>A (n.4007-1G>A) c.3692-1G>A (n.3692-1G>A) c.1589-1G>A (n.1589-1G>A) c.4031-1G>A (n.4031-1G>A) c.4022-1G>A (n.4022-1G>A) c.4013-1G>A (n.4013-1G>A) c.2351-1G>A (n.2351-1G>A) | ClinVar dbSNP |
| X | g.108680884G>C | CA413851087 | COL4A5 | c.4016-1G>C (n.4016-1G>C) c.3998-1G>C (n.3998-1G>C) n.510-1G>C n.419-1G>C c.4007-1G>C (n.4007-1G>C) c.3692-1G>C (n.3692-1G>C) c.1589-1G>C (n.1589-1G>C) c.4031-1G>C (n.4031-1G>C) c.4022-1G>C (n.4022-1G>C) c.4013-1G>C (n.4013-1G>C) c.2351-1G>C (n.2351-1G>C) | |
| X | g.108680884G= | CA2450716897 | COL4A5 | c.4016-1G= (n.4016-1G=) c.3998-1G= (n.3998-1G=) n.510-1G= n.419-1G= c.4007-1G= (n.4007-1G=) c.3692-1G= (n.3692-1G=) c.1589-1G= (n.1589-1G=) c.4031-1G= (n.4031-1G=) c.4022-1G= (n.4022-1G=) c.4013-1G= (n.4013-1G=) c.2351-1G= (n.2351-1G=) | |
| X | g.108680884G>T | CA413851088 | COL4A5 | c.4016-1G>T (n.4016-1G>T) c.3998-1G>T (n.3998-1G>T) n.510-1G>T n.419-1G>T c.4007-1G>T (n.4007-1G>T) c.3692-1G>T (n.3692-1G>T) c.1589-1G>T (n.1589-1G>T) c.4031-1G>T (n.4031-1G>T) c.4022-1G>T (n.4022-1G>T) c.4013-1G>T (n.4013-1G>T) c.2351-1G>T (n.2351-1G>T) | |
| X | g.108680885G>A | CA413851091 | COL4A5 | c.4016G>A (p.Gly1339Asp) c.3998G>A (p.Gly1333Asp) n.510G>A n.419G>A c.4007G>A (p.Gly1336Asp) c.3692G>A (p.Gly1231Asp) c.1589G>A (p.Gly530Asp) c.4031G>A (p.Gly1344Asp) c.4022G>A (p.Gly1341Asp) c.4013G>A (p.Gly1338Asp) c.2351G>A (p.Gly784Asp) | ClinVar |
| X | g.108680885G>C | CA413851089 | COL4A5 | c.4016G>C (p.Gly1339Ala) c.3998G>C (p.Gly1333Ala) n.510G>C n.419G>C c.4007G>C (p.Gly1336Ala) c.3692G>C (p.Gly1231Ala) c.1589G>C (p.Gly530Ala) c.4031G>C (p.Gly1344Ala) c.4022G>C (p.Gly1341Ala) c.4013G>C (p.Gly1338Ala) c.2351G>C (p.Gly784Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108680885G= | CA2450716898 | COL4A5 | c.4016G= (p.Gly1339=) c.3998G= (p.Gly1333=) n.510G= n.419G= c.4007G= (p.Gly1336=) c.3692G= (p.Gly1231=) c.1589G= (p.Gly530=) c.4031G= (p.Gly1344=) c.4022G= (p.Gly1341=) c.4013G= (p.Gly1338=) c.2351G= (p.Gly784=) | |
| X | g.108680885G>T | CA413851090 | COL4A5 | c.4016G>T (p.Gly1339Val) c.3998G>T (p.Gly1333Val) n.510G>T n.419G>T c.4007G>T (p.Gly1336Val) c.3692G>T (p.Gly1231Val) c.1589G>T (p.Gly530Val) c.4031G>T (p.Gly1344Val) c.4022G>T (p.Gly1341Val) c.4013G>T (p.Gly1338Val) c.2351G>T (p.Gly784Val) | |
| X | g.108680886C>A | CA517923632 | COL4A5 | c.4017C>A (p.Gly1339=) c.3999C>A (p.Gly1333=) n.511C>A n.420C>A c.4008C>A (p.Gly1336=) c.3693C>A (p.Gly1231=) c.1590C>A (p.Gly530=) c.4032C>A (p.Gly1344=) c.4023C>A (p.Gly1341=) c.4014C>A (p.Gly1338=) c.2352C>A (p.Gly784=) | |
| X | g.108680886C>G | CA517923633 | COL4A5 | c.4017C>G (p.Gly1339=) c.3999C>G (p.Gly1333=) n.511C>G n.420C>G c.4008C>G (p.Gly1336=) c.3693C>G (p.Gly1231=) c.1590C>G (p.Gly530=) c.4032C>G (p.Gly1344=) c.4023C>G (p.Gly1341=) c.4014C>G (p.Gly1338=) c.2352C>G (p.Gly784=) | |
| X | g.108680886C>T | CA517923634 | COL4A5 | c.4017C>T (p.Gly1339=) c.3999C>T (p.Gly1333=) n.511C>T n.420C>T c.4008C>T (p.Gly1336=) c.3693C>T (p.Gly1231=) c.1590C>T (p.Gly530=) c.4032C>T (p.Gly1344=) c.4023C>T (p.Gly1341=) c.4014C>T (p.Gly1338=) c.2352C>T (p.Gly784=) | |
| X | g.108680887A= | CA2450716899 | COL4A5 | c.4018A= (p.Met1340=) c.4000A= (p.Met1334=) n.512A= n.421A= c.4009A= (p.Met1337=) c.3694A= (p.Met1232=) c.1591A= (p.Met531=) c.4033A= (p.Met1345=) c.4024A= (p.Met1342=) c.4015A= (p.Met1339=) c.2353A= (p.Met785=) | |
| X | g.108680887A>C | CA413851092 | COL4A5 | c.4018A>C (p.Met1340Leu) c.4000A>C (p.Met1334Leu) n.512A>C n.421A>C c.4009A>C (p.Met1337Leu) c.3694A>C (p.Met1232Leu) c.1591A>C (p.Met531Leu) c.4033A>C (p.Met1345Leu) c.4024A>C (p.Met1342Leu) c.4015A>C (p.Met1339Leu) c.2353A>C (p.Met785Leu) | |
| X | g.108680887A>G | CA413851094 | COL4A5 | c.4018A>G (p.Met1340Val) c.4000A>G (p.Met1334Val) n.512A>G n.421A>G c.4009A>G (p.Met1337Val) c.3694A>G (p.Met1232Val) c.1591A>G (p.Met531Val) c.4033A>G (p.Met1345Val) c.4024A>G (p.Met1342Val) c.4015A>G (p.Met1339Val) c.2353A>G (p.Met785Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108680887A>T | CA413851093 | COL4A5 | c.4018A>T (p.Met1340Leu) c.4000A>T (p.Met1334Leu) n.512A>T n.421A>T c.4009A>T (p.Met1337Leu) c.3694A>T (p.Met1232Leu) c.1591A>T (p.Met531Leu) c.4033A>T (p.Met1345Leu) c.4024A>T (p.Met1342Leu) c.4015A>T (p.Met1339Leu) c.2353A>T (p.Met785Leu) | |
| X | g.108680888T>A | CA413851095 | COL4A5 | c.4019T>A (p.Met1340Lys) c.4001T>A (p.Met1334Lys) n.513T>A n.422T>A c.4010T>A (p.Met1337Lys) c.3695T>A (p.Met1232Lys) c.1592T>A (p.Met531Lys) c.4034T>A (p.Met1345Lys) c.4025T>A (p.Met1342Lys) c.4016T>A (p.Met1339Lys) c.2354T>A (p.Met785Lys) | |
| X | g.108680888T>C | CA413851096 | COL4A5 | c.4019T>C (p.Met1340Thr) c.4001T>C (p.Met1334Thr) n.513T>C n.422T>C c.4010T>C (p.Met1337Thr) c.3695T>C (p.Met1232Thr) c.1592T>C (p.Met531Thr) c.4034T>C (p.Met1345Thr) c.4025T>C (p.Met1342Thr) c.4016T>C (p.Met1339Thr) c.2354T>C (p.Met785Thr) | gnomAD v4 |
| X | g.108680888T>G | CA413851097 | COL4A5 | c.4019T>G (p.Met1340Arg) c.4001T>G (p.Met1334Arg) n.513T>G n.422T>G c.4010T>G (p.Met1337Arg) c.3695T>G (p.Met1232Arg) c.1592T>G (p.Met531Arg) c.4034T>G (p.Met1345Arg) c.4025T>G (p.Met1342Arg) c.4016T>G (p.Met1339Arg) c.2354T>G (p.Met785Arg) | |
| X | g.108680889G>A | CA413851098 | COL4A5 | c.4020G>A (p.Met1340Ile) c.4002G>A (p.Met1334Ile) n.514G>A n.423G>A c.4011G>A (p.Met1337Ile) c.3696G>A (p.Met1232Ile) c.1593G>A (p.Met531Ile) c.4035G>A (p.Met1345Ile) c.4026G>A (p.Met1342Ile) c.4017G>A (p.Met1339Ile) c.2355G>A (p.Met785Ile) | |
| X | g.108680889G>C | CA413851099 | COL4A5 | c.4020G>C (p.Met1340Ile) c.4002G>C (p.Met1334Ile) n.514G>C n.423G>C c.4011G>C (p.Met1337Ile) c.3696G>C (p.Met1232Ile) c.1593G>C (p.Met531Ile) c.4035G>C (p.Met1345Ile) c.4026G>C (p.Met1342Ile) c.4017G>C (p.Met1339Ile) c.2355G>C (p.Met785Ile) | |
| X | g.108680889G>T | CA413851100 | COL4A5 | c.4020G>T (p.Met1340Ile) c.4002G>T (p.Met1334Ile) n.514G>T n.423G>T c.4011G>T (p.Met1337Ile) c.3696G>T (p.Met1232Ile) c.1593G>T (p.Met531Ile) c.4035G>T (p.Met1345Ile) c.4026G>T (p.Met1342Ile) c.4017G>T (p.Met1339Ile) c.2355G>T (p.Met785Ile) | |
| X | g.108680890A= | CA2450716900 | COL4A5 | c.4021A= (p.Lys1341=) c.4003A= (p.Lys1335=) n.515A= n.424A= c.4012A= (p.Lys1338=) c.3697A= (p.Lys1233=) c.1594A= (p.Lys532=) c.4036A= (p.Lys1346=) c.4027A= (p.Lys1343=) c.4018A= (p.Lys1340=) c.2356A= (p.Lys786=) | |
| X | g.108680890A>C | CA413851101 | COL4A5 | c.4021A>C (p.Lys1341Gln) c.4003A>C (p.Lys1335Gln) n.515A>C n.424A>C c.4012A>C (p.Lys1338Gln) c.3697A>C (p.Lys1233Gln) c.1594A>C (p.Lys532Gln) c.4036A>C (p.Lys1346Gln) c.4027A>C (p.Lys1343Gln) c.4018A>C (p.Lys1340Gln) c.2356A>C (p.Lys786Gln) | |
| X | g.108680890A>G | CA413851102 | COL4A5 | c.4021A>G (p.Lys1341Glu) c.4003A>G (p.Lys1335Glu) n.515A>G n.424A>G c.4012A>G (p.Lys1338Glu) c.3697A>G (p.Lys1233Glu) c.1594A>G (p.Lys532Glu) c.4036A>G (p.Lys1346Glu) c.4027A>G (p.Lys1343Glu) c.4018A>G (p.Lys1340Glu) c.2356A>G (p.Lys786Glu) | COSMIC |
| X | g.108680890A>T | CA413851103 | COL4A5 | c.4021A>T (p.Lys1341Ter) c.4003A>T (p.Lys1335Ter) n.515A>T n.424A>T c.4012A>T (p.Lys1338Ter) c.3697A>T (p.Lys1233Ter) c.1594A>T (p.Lys532Ter) c.4036A>T (p.Lys1346Ter) c.4027A>T (p.Lys1343Ter) c.4018A>T (p.Lys1340Ter) c.2356A>T (p.Lys786Ter) | ClinVar dbSNP |
| X | g.108680891A>C | CA413851104 | COL4A5 | c.4022A>C (p.Lys1341Thr) c.4004A>C (p.Lys1335Thr) n.516A>C n.425A>C c.4013A>C (p.Lys1338Thr) c.3698A>C (p.Lys1233Thr) c.1595A>C (p.Lys532Thr) c.4037A>C (p.Lys1346Thr) c.4028A>C (p.Lys1343Thr) c.4019A>C (p.Lys1340Thr) c.2357A>C (p.Lys786Thr) | |
| X | g.108680891A>G | CA413851105 | COL4A5 | c.4022A>G (p.Lys1341Arg) c.4004A>G (p.Lys1335Arg) n.516A>G n.425A>G c.4013A>G (p.Lys1338Arg) c.3698A>G (p.Lys1233Arg) c.1595A>G (p.Lys532Arg) c.4037A>G (p.Lys1346Arg) c.4028A>G (p.Lys1343Arg) c.4019A>G (p.Lys1340Arg) c.2357A>G (p.Lys786Arg) | |
| X | g.108680891A>T | CA413851106 | COL4A5 | c.4022A>T (p.Lys1341Ile) c.4004A>T (p.Lys1335Ile) n.516A>T n.425A>T c.4013A>T (p.Lys1338Ile) c.3698A>T (p.Lys1233Ile) c.1595A>T (p.Lys532Ile) c.4037A>T (p.Lys1346Ile) c.4028A>T (p.Lys1343Ile) c.4019A>T (p.Lys1340Ile) c.2357A>T (p.Lys786Ile) | |
| X | g.108680892A>C | CA413851107 | COL4A5 | c.4023A>C (p.Lys1341Asn) c.4005A>C (p.Lys1335Asn) n.517A>C n.426A>C c.4014A>C (p.Lys1338Asn) c.3699A>C (p.Lys1233Asn) c.1596A>C (p.Lys532Asn) c.4038A>C (p.Lys1346Asn) c.4029A>C (p.Lys1343Asn) c.4020A>C (p.Lys1340Asn) c.2358A>C (p.Lys786Asn) | |
| X | g.108680892A>G | CA517923635 | COL4A5 | c.4023A>G (p.Lys1341=) c.4005A>G (p.Lys1335=) n.517A>G n.426A>G c.4014A>G (p.Lys1338=) c.3699A>G (p.Lys1233=) c.1596A>G (p.Lys532=) c.4038A>G (p.Lys1346=) c.4029A>G (p.Lys1343=) c.4020A>G (p.Lys1340=) c.2358A>G (p.Lys786=) | COSMIC COSMIC |
| X | g.108680892A>T | CA413851108 | COL4A5 | c.4023A>T (p.Lys1341Asn) c.4005A>T (p.Lys1335Asn) n.517A>T n.426A>T c.4014A>T (p.Lys1338Asn) c.3699A>T (p.Lys1233Asn) c.1596A>T (p.Lys532Asn) c.4038A>T (p.Lys1346Asn) c.4029A>T (p.Lys1343Asn) c.4020A>T (p.Lys1340Asn) c.2358A>T (p.Lys786Asn) | |
| X | g.108680893G>A | CA413851109 | COL4A5 | c.4024G>A (p.Gly1342Arg) c.4006G>A (p.Gly1336Arg) n.518G>A n.427G>A c.4015G>A (p.Gly1339Arg) c.3700G>A (p.Gly1234Arg) c.1597G>A (p.Gly533Arg) c.4039G>A (p.Gly1347Arg) c.4030G>A (p.Gly1344Arg) c.4021G>A (p.Gly1341Arg) c.2359G>A (p.Gly787Arg) | COSMIC COSMIC |
| X | g.108680893G>C | CA413851110 | COL4A5 | c.4024G>C (p.Gly1342Arg) c.4006G>C (p.Gly1336Arg) n.518G>C n.427G>C c.4015G>C (p.Gly1339Arg) c.3700G>C (p.Gly1234Arg) c.1597G>C (p.Gly533Arg) c.4039G>C (p.Gly1347Arg) c.4030G>C (p.Gly1344Arg) c.4021G>C (p.Gly1341Arg) c.2359G>C (p.Gly787Arg) | |
| X | g.108680893G= | CA2450716901 | COL4A5 | c.4024G= (p.Gly1342=) c.4006G= (p.Gly1336=) n.518G= n.427G= c.4015G= (p.Gly1339=) c.3700G= (p.Gly1234=) c.1597G= (p.Gly533=) c.4039G= (p.Gly1347=) c.4030G= (p.Gly1344=) c.4021G= (p.Gly1341=) c.2359G= (p.Gly787=) | |
| X | g.108680893G>T | CA258978 | COL4A5 | c.4024G>T (p.Gly1342Ter) c.4006G>T (p.Gly1336Ter) n.518G>T n.427G>T c.4015G>T (p.Gly1339Ter) c.3700G>T (p.Gly1234Ter) c.1597G>T (p.Gly533Ter) c.4039G>T (p.Gly1347Ter) c.4030G>T (p.Gly1344Ter) c.4021G>T (p.Gly1341Ter) c.2359G>T (p.Gly787Ter) | |
| X | g.108680894G>A | CA413851111 | COL4A5 | c.4025G>A (p.Gly1342Glu) c.4007G>A (p.Gly1336Glu) n.519G>A n.428G>A c.4016G>A (p.Gly1339Glu) c.3701G>A (p.Gly1234Glu) c.1598G>A (p.Gly533Glu) c.4040G>A (p.Gly1347Glu) c.4031G>A (p.Gly1344Glu) c.4022G>A (p.Gly1341Glu) c.2360G>A (p.Gly787Glu) | COSMIC COSMIC |
| X | g.108680894G>C | CA413851112 | COL4A5 | c.4025G>C (p.Gly1342Ala) c.4007G>C (p.Gly1336Ala) n.519G>C n.428G>C c.4016G>C (p.Gly1339Ala) c.3701G>C (p.Gly1234Ala) c.1598G>C (p.Gly533Ala) c.4040G>C (p.Gly1347Ala) c.4031G>C (p.Gly1344Ala) c.4022G>C (p.Gly1341Ala) c.2360G>C (p.Gly787Ala) | |
| X | g.108680894G>T | CA413851113 | COL4A5 | c.4025G>T (p.Gly1342Val) c.4007G>T (p.Gly1336Val) n.519G>T n.428G>T c.4016G>T (p.Gly1339Val) c.3701G>T (p.Gly1234Val) c.1598G>T (p.Gly533Val) c.4040G>T (p.Gly1347Val) c.4031G>T (p.Gly1344Val) c.4022G>T (p.Gly1341Val) c.2360G>T (p.Gly787Val) | |
| X | g.108680895A>C | CA517923636 | COL4A5 | c.4026A>C (p.Gly1342=) c.4008A>C (p.Gly1336=) n.520A>C n.429A>C c.4017A>C (p.Gly1339=) c.3702A>C (p.Gly1234=) c.1599A>C (p.Gly533=) c.4041A>C (p.Gly1347=) c.4032A>C (p.Gly1344=) c.4023A>C (p.Gly1341=) c.2361A>C (p.Gly787=) | |
| X | g.108680895A>G | CA517923637 | COL4A5 | c.4026A>G (p.Gly1342=) c.4008A>G (p.Gly1336=) n.520A>G n.429A>G c.4017A>G (p.Gly1339=) c.3702A>G (p.Gly1234=) c.1599A>G (p.Gly533=) c.4041A>G (p.Gly1347=) c.4032A>G (p.Gly1344=) c.4023A>G (p.Gly1341=) c.2361A>G (p.Gly787=) | |
| X | g.108680895A>T | CA517923638 | COL4A5 | c.4026A>T (p.Gly1342=) c.4008A>T (p.Gly1336=) n.520A>T n.429A>T c.4017A>T (p.Gly1339=) c.3702A>T (p.Gly1234=) c.1599A>T (p.Gly533=) c.4041A>T (p.Gly1347=) c.4032A>T (p.Gly1344=) c.4023A>T (p.Gly1341=) c.2361A>T (p.Gly787=) | |
| X | g.108680896C>A | CA413851114 | COL4A5 | c.4027C>A (p.Pro1343Thr) c.4009C>A (p.Pro1337Thr) n.521C>A n.430C>A c.4018C>A (p.Pro1340Thr) c.3703C>A (p.Pro1235Thr) c.1600C>A (p.Pro534Thr) c.4042C>A (p.Pro1348Thr) c.4033C>A (p.Pro1345Thr) c.4024C>A (p.Pro1342Thr) c.2362C>A (p.Pro788Thr) | |
| X | g.108680896C>G | CA413851115 | COL4A5 | c.4027C>G (p.Pro1343Ala) c.4009C>G (p.Pro1337Ala) n.521C>G n.430C>G c.4018C>G (p.Pro1340Ala) c.3703C>G (p.Pro1235Ala) c.1600C>G (p.Pro534Ala) c.4042C>G (p.Pro1348Ala) c.4033C>G (p.Pro1345Ala) c.4024C>G (p.Pro1342Ala) c.2362C>G (p.Pro788Ala) | |
| X | g.108680896C>T | CA413851116 | COL4A5 | c.4027C>T (p.Pro1343Ser) c.4009C>T (p.Pro1337Ser) n.521C>T n.430C>T c.4018C>T (p.Pro1340Ser) c.3703C>T (p.Pro1235Ser) c.1600C>T (p.Pro534Ser) c.4042C>T (p.Pro1348Ser) c.4033C>T (p.Pro1345Ser) c.4024C>T (p.Pro1342Ser) c.2362C>T (p.Pro788Ser) | gnomAD v4 |
| X | g.108680897C>A | CA413851117 | COL4A5 | c.4028C>A (p.Pro1343His) c.4010C>A (p.Pro1337His) n.522C>A n.431C>A c.4019C>A (p.Pro1340His) c.3704C>A (p.Pro1235His) c.1601C>A (p.Pro534His) c.4043C>A (p.Pro1348His) c.4034C>A (p.Pro1345His) c.4025C>A (p.Pro1342His) c.2363C>A (p.Pro788His) | |
| X | g.108680897C= | CA2450716902 | COL4A5 | c.4028C= (p.Pro1343=) c.4010C= (p.Pro1337=) n.522C= n.431C= c.4019C= (p.Pro1340=) c.3704C= (p.Pro1235=) c.1601C= (p.Pro534=) c.4043C= (p.Pro1348=) c.4034C= (p.Pro1345=) c.4025C= (p.Pro1342=) c.2363C= (p.Pro788=) | |
| X | g.108680897C>G | CA413851118 | COL4A5 | c.4028C>G (p.Pro1343Arg) c.4010C>G (p.Pro1337Arg) n.522C>G n.431C>G c.4019C>G (p.Pro1340Arg) c.3704C>G (p.Pro1235Arg) c.1601C>G (p.Pro534Arg) c.4043C>G (p.Pro1348Arg) c.4034C>G (p.Pro1345Arg) c.4025C>G (p.Pro1342Arg) c.2363C>G (p.Pro788Arg) | |
| X | g.108680897C>T | CA10489277 | COL4A5 | c.4028C>T (p.Pro1343Leu) c.4010C>T (p.Pro1337Leu) n.522C>T n.431C>T c.4019C>T (p.Pro1340Leu) c.3704C>T (p.Pro1235Leu) c.1601C>T (p.Pro534Leu) c.4043C>T (p.Pro1348Leu) c.4034C>T (p.Pro1345Leu) c.4025C>T (p.Pro1342Leu) c.2363C>T (p.Pro788Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680898C>A | CA517923639 | COL4A5 | c.4029C>A (p.Pro1343=) c.4011C>A (p.Pro1337=) n.523C>A n.432C>A c.4020C>A (p.Pro1340=) c.3705C>A (p.Pro1235=) c.1602C>A (p.Pro534=) c.4044C>A (p.Pro1348=) c.4035C>A (p.Pro1345=) c.4026C>A (p.Pro1342=) c.2364C>A (p.Pro788=) | |
| X | g.108680898C>G | CA517923640 | COL4A5 | c.4029C>G (p.Pro1343=) c.4011C>G (p.Pro1337=) n.523C>G n.432C>G c.4020C>G (p.Pro1340=) c.3705C>G (p.Pro1235=) c.1602C>G (p.Pro534=) c.4044C>G (p.Pro1348=) c.4035C>G (p.Pro1345=) c.4026C>G (p.Pro1342=) c.2364C>G (p.Pro788=) | |
| X | g.108680898C>T | CA517923641 | COL4A5 | c.4029C>T (p.Pro1343=) c.4011C>T (p.Pro1337=) n.523C>T n.432C>T c.4020C>T (p.Pro1340=) c.3705C>T (p.Pro1235=) c.1602C>T (p.Pro534=) c.4044C>T (p.Pro1348=) c.4035C>T (p.Pro1345=) c.4026C>T (p.Pro1342=) c.2364C>T (p.Pro788=) | |
| X | g.108680899A>C | CA413851121 | COL4A5 | c.4030A>C (p.Ser1344Arg) c.4012A>C (p.Ser1338Arg) n.524A>C n.433A>C c.4021A>C (p.Ser1341Arg) c.3706A>C (p.Ser1236Arg) c.1603A>C (p.Ser535Arg) c.4045A>C (p.Ser1349Arg) c.4036A>C (p.Ser1346Arg) c.4027A>C (p.Ser1343Arg) c.2365A>C (p.Ser789Arg) | |
| X | g.108680899A>G | CA413851119 | COL4A5 | c.4030A>G (p.Ser1344Gly) c.4012A>G (p.Ser1338Gly) n.524A>G n.433A>G c.4021A>G (p.Ser1341Gly) c.3706A>G (p.Ser1236Gly) c.1603A>G (p.Ser535Gly) c.4045A>G (p.Ser1349Gly) c.4036A>G (p.Ser1346Gly) c.4027A>G (p.Ser1343Gly) c.2365A>G (p.Ser789Gly) | |
| X | g.108680899A>T | CA413851120 | COL4A5 | c.4030A>T (p.Ser1344Cys) c.4012A>T (p.Ser1338Cys) n.524A>T n.433A>T c.4021A>T (p.Ser1341Cys) c.3706A>T (p.Ser1236Cys) c.1603A>T (p.Ser535Cys) c.4045A>T (p.Ser1349Cys) c.4036A>T (p.Ser1346Cys) c.4027A>T (p.Ser1343Cys) c.2365A>T (p.Ser789Cys) | |
| X | g.108680900G>A | CA413851122 | COL4A5 | c.4031G>A (p.Ser1344Asn) c.4013G>A (p.Ser1338Asn) n.525G>A n.434G>A c.4022G>A (p.Ser1341Asn) c.3707G>A (p.Ser1236Asn) c.1604G>A (p.Ser535Asn) c.4046G>A (p.Ser1349Asn) c.4037G>A (p.Ser1346Asn) c.4028G>A (p.Ser1343Asn) c.2366G>A (p.Ser789Asn) | |
| X | g.108680900G>C | CA413851123 | COL4A5 | c.4031G>C (p.Ser1344Thr) c.4013G>C (p.Ser1338Thr) n.525G>C n.434G>C c.4022G>C (p.Ser1341Thr) c.3707G>C (p.Ser1236Thr) c.1604G>C (p.Ser535Thr) c.4046G>C (p.Ser1349Thr) c.4037G>C (p.Ser1346Thr) c.4028G>C (p.Ser1343Thr) c.2366G>C (p.Ser789Thr) | |
| X | g.108680900G>T | CA413851124 | COL4A5 | c.4031G>T (p.Ser1344Ile) c.4013G>T (p.Ser1338Ile) n.525G>T n.434G>T c.4022G>T (p.Ser1341Ile) c.3707G>T (p.Ser1236Ile) c.1604G>T (p.Ser535Ile) c.4046G>T (p.Ser1349Ile) c.4037G>T (p.Ser1346Ile) c.4028G>T (p.Ser1343Ile) c.2366G>T (p.Ser789Ile) | |
| X | g.108680901T>A | CA413851125 | COL4A5 | c.4032T>A (p.Ser1344Arg) c.4014T>A (p.Ser1338Arg) n.526T>A n.435T>A c.4023T>A (p.Ser1341Arg) c.3708T>A (p.Ser1236Arg) c.1605T>A (p.Ser535Arg) c.4047T>A (p.Ser1349Arg) c.4038T>A (p.Ser1346Arg) c.4029T>A (p.Ser1343Arg) c.2367T>A (p.Ser789Arg) | |
| X | g.108680901T>C | CA517923642 | COL4A5 | c.4032T>C (p.Ser1344=) c.4014T>C (p.Ser1338=) n.526T>C n.435T>C c.4023T>C (p.Ser1341=) c.3708T>C (p.Ser1236=) c.1605T>C (p.Ser535=) c.4047T>C (p.Ser1349=) c.4038T>C (p.Ser1346=) c.4029T>C (p.Ser1343=) c.2367T>C (p.Ser789=) | |
| X | g.108680901T>G | CA413851126 | COL4A5 | c.4032T>G (p.Ser1344Arg) c.4014T>G (p.Ser1338Arg) n.526T>G n.435T>G c.4023T>G (p.Ser1341Arg) c.3708T>G (p.Ser1236Arg) c.1605T>G (p.Ser535Arg) c.4047T>G (p.Ser1349Arg) c.4038T>G (p.Ser1346Arg) c.4029T>G (p.Ser1343Arg) c.2367T>G (p.Ser789Arg) | |
| X | g.108680902G>A | CA413851129 | COL4A5 | c.4033G>A (p.Gly1345Arg) c.4015G>A (p.Gly1339Arg) n.527G>A n.436G>A c.4024G>A (p.Gly1342Arg) c.3709G>A (p.Gly1237Arg) c.1606G>A (p.Gly536Arg) c.4048G>A (p.Gly1350Arg) c.4039G>A (p.Gly1347Arg) c.4030G>A (p.Gly1344Arg) c.2368G>A (p.Gly790Arg) | |
| X | g.108680902G>C | CA413851128 | COL4A5 | c.4033G>C (p.Gly1345Arg) c.4015G>C (p.Gly1339Arg) n.527G>C n.436G>C c.4024G>C (p.Gly1342Arg) c.3709G>C (p.Gly1237Arg) c.1606G>C (p.Gly536Arg) c.4048G>C (p.Gly1350Arg) c.4039G>C (p.Gly1347Arg) c.4030G>C (p.Gly1344Arg) c.2368G>C (p.Gly790Arg) | |
| X | g.108680902G>T | CA413851127 | COL4A5 | c.4033G>T (p.Gly1345Ter) c.4015G>T (p.Gly1339Ter) n.527G>T n.436G>T c.4024G>T (p.Gly1342Ter) c.3709G>T (p.Gly1237Ter) c.1606G>T (p.Gly536Ter) c.4048G>T (p.Gly1350Ter) c.4039G>T (p.Gly1347Ter) c.4030G>T (p.Gly1344Ter) c.2368G>T (p.Gly790Ter) | |
| X | g.108680903G>A | CA413851130 | COL4A5 | c.4034G>A (p.Gly1345Glu) c.4016G>A (p.Gly1339Glu) n.528G>A n.437G>A c.4025G>A (p.Gly1342Glu) c.3710G>A (p.Gly1237Glu) c.1607G>A (p.Gly536Glu) c.4049G>A (p.Gly1350Glu) c.4040G>A (p.Gly1347Glu) c.4031G>A (p.Gly1344Glu) c.2369G>A (p.Gly790Glu) | |
| X | g.108680903G>C | CA413851131 | COL4A5 | c.4034G>C (p.Gly1345Ala) c.4016G>C (p.Gly1339Ala) n.528G>C n.437G>C c.4025G>C (p.Gly1342Ala) c.3710G>C (p.Gly1237Ala) c.1607G>C (p.Gly536Ala) c.4049G>C (p.Gly1350Ala) c.4040G>C (p.Gly1347Ala) c.4031G>C (p.Gly1344Ala) c.2369G>C (p.Gly790Ala) | |
| X | g.108680903G>T | CA413851132 | COL4A5 | c.4034G>T (p.Gly1345Val) c.4016G>T (p.Gly1339Val) n.528G>T n.437G>T c.4025G>T (p.Gly1342Val) c.3710G>T (p.Gly1237Val) c.1607G>T (p.Gly536Val) c.4049G>T (p.Gly1350Val) c.4040G>T (p.Gly1347Val) c.4031G>T (p.Gly1344Val) c.2369G>T (p.Gly790Val) | dbSNP |
| X | g.108680904A>C | CA517923645 | COL4A5 | c.4035A>C (p.Gly1345=) c.4017A>C (p.Gly1339=) n.529A>C n.438A>C c.4026A>C (p.Gly1342=) c.3711A>C (p.Gly1237=) c.1608A>C (p.Gly536=) c.4050A>C (p.Gly1350=) c.4041A>C (p.Gly1347=) c.4032A>C (p.Gly1344=) c.2370A>C (p.Gly790=) | |
| X | g.108680904A>G | CA517923644 | COL4A5 | c.4035A>G (p.Gly1345=) c.4017A>G (p.Gly1339=) n.529A>G n.438A>G c.4026A>G (p.Gly1342=) c.3711A>G (p.Gly1237=) c.1608A>G (p.Gly536=) c.4050A>G (p.Gly1350=) c.4041A>G (p.Gly1347=) c.4032A>G (p.Gly1344=) c.2370A>G (p.Gly790=) | gnomAD v3 gnomAD v4 |
| X | g.108680904A>T | CA517923643 | COL4A5 | c.4035A>T (p.Gly1345=) c.4017A>T (p.Gly1339=) n.529A>T n.438A>T c.4026A>T (p.Gly1342=) c.3711A>T (p.Gly1237=) c.1608A>T (p.Gly536=) c.4050A>T (p.Gly1350=) c.4041A>T (p.Gly1347=) c.4032A>T (p.Gly1344=) c.2370A>T (p.Gly790=) | |
| X | g.108680905G>A | CA10489278 | COL4A5 | c.4036G>A (p.Val1346Ile) c.4018G>A (p.Val1340Ile) n.530G>A n.439G>A c.4027G>A (p.Val1343Ile) c.3712G>A (p.Val1238Ile) c.1609G>A (p.Val537Ile) c.4051G>A (p.Val1351Ile) c.4042G>A (p.Val1348Ile) c.4033G>A (p.Val1345Ile) c.2371G>A (p.Val791Ile) | dbSNP ExAC gnomAD v2 |
| X | g.108680905G>C | CA413851133 | COL4A5 | c.4036G>C (p.Val1346Leu) c.4018G>C (p.Val1340Leu) n.530G>C n.439G>C c.4027G>C (p.Val1343Leu) c.3712G>C (p.Val1238Leu) c.1609G>C (p.Val537Leu) c.4051G>C (p.Val1351Leu) c.4042G>C (p.Val1348Leu) c.4033G>C (p.Val1345Leu) c.2371G>C (p.Val791Leu) | |
| X | g.108680905G= | CA2450716903 | COL4A5 | c.4036G= (p.Val1346=) c.4018G= (p.Val1340=) n.530G= n.439G= c.4027G= (p.Val1343=) c.3712G= (p.Val1238=) c.1609G= (p.Val537=) c.4051G= (p.Val1351=) c.4042G= (p.Val1348=) c.4033G= (p.Val1345=) c.2371G= (p.Val791=) | |
| X | g.108680905G>T | CA413851134 | COL4A5 | c.4036G>T (p.Val1346Leu) c.4018G>T (p.Val1340Leu) n.530G>T n.439G>T c.4027G>T (p.Val1343Leu) c.3712G>T (p.Val1238Leu) c.1609G>T (p.Val537Leu) c.4051G>T (p.Val1351Leu) c.4042G>T (p.Val1348Leu) c.4033G>T (p.Val1345Leu) c.2371G>T (p.Val791Leu) | |
| X | g.108680906T>A | CA413851137 | COL4A5 | c.4037T>A (p.Val1346Glu) c.4019T>A (p.Val1340Glu) n.531T>A n.440T>A c.4028T>A (p.Val1343Glu) c.3713T>A (p.Val1238Glu) c.1610T>A (p.Val537Glu) c.4052T>A (p.Val1351Glu) c.4043T>A (p.Val1348Glu) c.4034T>A (p.Val1345Glu) c.2372T>A (p.Val791Glu) | |
| X | g.108680906T>C | CA413851135 | COL4A5 | c.4037T>C (p.Val1346Ala) c.4019T>C (p.Val1340Ala) n.531T>C n.440T>C c.4028T>C (p.Val1343Ala) c.3713T>C (p.Val1238Ala) c.1610T>C (p.Val537Ala) c.4052T>C (p.Val1351Ala) c.4043T>C (p.Val1348Ala) c.4034T>C (p.Val1345Ala) c.2372T>C (p.Val791Ala) | dbSNP |
| X | g.108680906T>G | CA413851136 | COL4A5 | c.4037T>G (p.Val1346Gly) c.4019T>G (p.Val1340Gly) n.531T>G n.440T>G c.4028T>G (p.Val1343Gly) c.3713T>G (p.Val1238Gly) c.1610T>G (p.Val537Gly) c.4052T>G (p.Val1351Gly) c.4043T>G (p.Val1348Gly) c.4034T>G (p.Val1345Gly) c.2372T>G (p.Val791Gly) | |
| X | g.108680906T= | CA2450716904 | COL4A5 | c.4037T= (p.Val1346=) c.4019T= (p.Val1340=) n.531T= n.440T= c.4028T= (p.Val1343=) c.3713T= (p.Val1238=) c.1610T= (p.Val537=) c.4052T= (p.Val1351=) c.4043T= (p.Val1348=) c.4034T= (p.Val1345=) c.2372T= (p.Val791=) | |
| X | g.108680907_108680910del | CA2573159122 | COL4A5 | c.4038_4041del (p.Pro1347AspfsTer29) c.4020_4023del (p.Pro1341AspfsTer29) n.532_535del n.441_444del c.4029_4032del (p.Pro1344AspfsTer29) c.3714_3717del (p.Pro1239AspfsTer29) c.1611_1614del (p.Pro538AspfsTer29) c.4053_4056del (p.Pro1352AspfsTer29) c.4044_4047del (p.Pro1349AspfsTer29) c.4035_4038del (p.Pro1346AspfsTer29) c.2373_2376del (p.Pro792AspfsTer29) | ClinVar dbSNP |
| X | g.108680907A= | CA2450716905 | COL4A5 | c.4038A= (p.Val1346=) c.4020A= (p.Val1340=) n.532A= n.441A= c.4029A= (p.Val1343=) c.3714A= (p.Val1238=) c.1611A= (p.Val537=) c.4053A= (p.Val1351=) c.4044A= (p.Val1348=) c.4035A= (p.Val1345=) c.2373A= (p.Val791=) | |
| X | g.108680907A>C | CA517923646 | COL4A5 | c.4038A>C (p.Val1346=) c.4020A>C (p.Val1340=) n.532A>C n.441A>C c.4029A>C (p.Val1343=) c.3714A>C (p.Val1238=) c.1611A>C (p.Val537=) c.4053A>C (p.Val1351=) c.4044A>C (p.Val1348=) c.4035A>C (p.Val1345=) c.2373A>C (p.Val791=) | |
| X | g.108680907A>G | CA517923647 | COL4A5 | c.4038A>G (p.Val1346=) c.4020A>G (p.Val1340=) n.532A>G n.441A>G c.4029A>G (p.Val1343=) c.3714A>G (p.Val1238=) c.1611A>G (p.Val537=) c.4053A>G (p.Val1351=) c.4044A>G (p.Val1348=) c.4035A>G (p.Val1345=) c.2373A>G (p.Val791=) | |
| X | g.108680907A>T | CA10489279 | COL4A5 | c.4038A>T (p.Val1346=) c.4020A>T (p.Val1340=) n.532A>T n.441A>T c.4029A>T (p.Val1343=) c.3714A>T (p.Val1238=) c.1611A>T (p.Val537=) c.4053A>T (p.Val1351=) c.4044A>T (p.Val1348=) c.4035A>T (p.Val1345=) c.2373A>T (p.Val791=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680908C>A | CA413851138 | COL4A5 | c.4039C>A (p.Pro1347Thr) c.4021C>A (p.Pro1341Thr) n.533C>A n.442C>A c.4030C>A (p.Pro1344Thr) c.3715C>A (p.Pro1239Thr) c.1612C>A (p.Pro538Thr) c.4054C>A (p.Pro1352Thr) c.4045C>A (p.Pro1349Thr) c.4036C>A (p.Pro1346Thr) c.2374C>A (p.Pro792Thr) | |
| X | g.108680908C>G | CA413851139 | COL4A5 | c.4039C>G (p.Pro1347Ala) c.4021C>G (p.Pro1341Ala) n.533C>G n.442C>G c.4030C>G (p.Pro1344Ala) c.3715C>G (p.Pro1239Ala) c.1612C>G (p.Pro538Ala) c.4054C>G (p.Pro1352Ala) c.4045C>G (p.Pro1349Ala) c.4036C>G (p.Pro1346Ala) c.2374C>G (p.Pro792Ala) | |
| X | g.108680908C>T | CA413851140 | COL4A5 | c.4039C>T (p.Pro1347Ser) c.4021C>T (p.Pro1341Ser) n.533C>T n.442C>T c.4030C>T (p.Pro1344Ser) c.3715C>T (p.Pro1239Ser) c.1612C>T (p.Pro538Ser) c.4054C>T (p.Pro1352Ser) c.4045C>T (p.Pro1349Ser) c.4036C>T (p.Pro1346Ser) c.2374C>T (p.Pro792Ser) | |
| X | g.108680909C>A | CA413851141 | COL4A5 | c.4040C>A (p.Pro1347His) c.4022C>A (p.Pro1341His) n.534C>A n.443C>A c.4031C>A (p.Pro1344His) c.3716C>A (p.Pro1239His) c.1613C>A (p.Pro538His) c.4055C>A (p.Pro1352His) c.4046C>A (p.Pro1349His) c.4037C>A (p.Pro1346His) c.2375C>A (p.Pro792His) | |
| X | g.108680909C= | CA2450716906 | COL4A5 | c.4040C= (p.Pro1347=) c.4022C= (p.Pro1341=) n.534C= n.443C= c.4031C= (p.Pro1344=) c.3716C= (p.Pro1239=) c.1613C= (p.Pro538=) c.4055C= (p.Pro1352=) c.4046C= (p.Pro1349=) c.4037C= (p.Pro1346=) c.2375C= (p.Pro792=) | |
| X | g.108680909C>G | CA413851142 | COL4A5 | c.4040C>G (p.Pro1347Arg) c.4022C>G (p.Pro1341Arg) n.534C>G n.443C>G c.4031C>G (p.Pro1344Arg) c.3716C>G (p.Pro1239Arg) c.1613C>G (p.Pro538Arg) c.4055C>G (p.Pro1352Arg) c.4046C>G (p.Pro1349Arg) c.4037C>G (p.Pro1346Arg) c.2375C>G (p.Pro792Arg) | |
| X | g.108680909C>T | CA413851143 | COL4A5 | c.4040C>T (p.Pro1347Leu) c.4022C>T (p.Pro1341Leu) n.534C>T n.443C>T c.4031C>T (p.Pro1344Leu) c.3716C>T (p.Pro1239Leu) c.1613C>T (p.Pro538Leu) c.4055C>T (p.Pro1352Leu) c.4046C>T (p.Pro1349Leu) c.4037C>T (p.Pro1346Leu) c.2375C>T (p.Pro792Leu) | dbSNP gnomAD v2 |
| X | g.108680910T>A | CA517923648 | COL4A5 | c.4041T>A (p.Pro1347=) c.4023T>A (p.Pro1341=) n.535T>A n.444T>A c.4032T>A (p.Pro1344=) c.3717T>A (p.Pro1239=) c.1614T>A (p.Pro538=) c.4056T>A (p.Pro1352=) c.4047T>A (p.Pro1349=) c.4038T>A (p.Pro1346=) c.2376T>A (p.Pro792=) | |
| X | g.108680910T>C | CA517923649 | COL4A5 | c.4041T>C (p.Pro1347=) c.4023T>C (p.Pro1341=) n.535T>C n.444T>C c.4032T>C (p.Pro1344=) c.3717T>C (p.Pro1239=) c.1614T>C (p.Pro538=) c.4056T>C (p.Pro1352=) c.4047T>C (p.Pro1349=) c.4038T>C (p.Pro1346=) c.2376T>C (p.Pro792=) | |
| X | g.108680910T>G | CA517923650 | COL4A5 | c.4041T>G (p.Pro1347=) c.4023T>G (p.Pro1341=) n.535T>G n.444T>G c.4032T>G (p.Pro1344=) c.3717T>G (p.Pro1239=) c.1614T>G (p.Pro538=) c.4056T>G (p.Pro1352=) c.4047T>G (p.Pro1349=) c.4038T>G (p.Pro1346=) c.2376T>G (p.Pro792=) | |
| X | g.108680911G>A | CA413851144 | COL4A5 | c.4042G>A (p.Gly1348Arg) c.4024G>A (p.Gly1342Arg) n.536G>A n.445G>A c.4033G>A (p.Gly1345Arg) c.3718G>A (p.Gly1240Arg) c.1615G>A (p.Gly539Arg) c.4057G>A (p.Gly1353Arg) c.4048G>A (p.Gly1350Arg) c.4039G>A (p.Gly1347Arg) c.2377G>A (p.Gly793Arg) | ClinVar dbSNP |
| X | g.108680911G>C | CA413851145 | COL4A5 | c.4042G>C (p.Gly1348Arg) c.4024G>C (p.Gly1342Arg) n.536G>C n.445G>C c.4033G>C (p.Gly1345Arg) c.3718G>C (p.Gly1240Arg) c.1615G>C (p.Gly539Arg) c.4057G>C (p.Gly1353Arg) c.4048G>C (p.Gly1350Arg) c.4039G>C (p.Gly1347Arg) c.2377G>C (p.Gly793Arg) | |
| X | g.108680911G= | CA2450716907 | COL4A5 | c.4042G= (p.Gly1348=) c.4024G= (p.Gly1342=) n.536G= n.445G= c.4033G= (p.Gly1345=) c.3718G= (p.Gly1240=) c.1615G= (p.Gly539=) c.4057G= (p.Gly1353=) c.4048G= (p.Gly1350=) c.4039G= (p.Gly1347=) c.2377G= (p.Gly793=) | |
| X | g.108680911G>T | CA413851146 | COL4A5 | c.4042G>T (p.Gly1348Ter) c.4024G>T (p.Gly1342Ter) n.536G>T n.445G>T c.4033G>T (p.Gly1345Ter) c.3718G>T (p.Gly1240Ter) c.1615G>T (p.Gly539Ter) c.4057G>T (p.Gly1353Ter) c.4048G>T (p.Gly1350Ter) c.4039G>T (p.Gly1347Ter) c.2377G>T (p.Gly793Ter) | |
| X | g.108680912G>A | CA413851147 | COL4A5 | c.4043G>A (p.Gly1348Glu) c.4025G>A (p.Gly1342Glu) n.537G>A n.446G>A c.4034G>A (p.Gly1345Glu) c.3719G>A (p.Gly1240Glu) c.1616G>A (p.Gly539Glu) c.4058G>A (p.Gly1353Glu) c.4049G>A (p.Gly1350Glu) c.4040G>A (p.Gly1347Glu) c.2378G>A (p.Gly793Glu) | |
| X | g.108680912G>C | CA413851148 | COL4A5 | c.4043G>C (p.Gly1348Ala) c.4025G>C (p.Gly1342Ala) n.537G>C n.446G>C c.4034G>C (p.Gly1345Ala) c.3719G>C (p.Gly1240Ala) c.1616G>C (p.Gly539Ala) c.4058G>C (p.Gly1353Ala) c.4049G>C (p.Gly1350Ala) c.4040G>C (p.Gly1347Ala) c.2378G>C (p.Gly793Ala) | |
| X | g.108680912G>T | CA413851149 | COL4A5 | c.4043G>T (p.Gly1348Val) c.4025G>T (p.Gly1342Val) n.537G>T n.446G>T c.4034G>T (p.Gly1345Val) c.3719G>T (p.Gly1240Val) c.1616G>T (p.Gly539Val) c.4058G>T (p.Gly1353Val) c.4049G>T (p.Gly1350Val) c.4040G>T (p.Gly1347Val) c.2378G>T (p.Gly793Val) | |
| X | g.108680913A>C | CA517923651 | COL4A5 | c.4044A>C (p.Gly1348=) c.4026A>C (p.Gly1342=) n.538A>C n.447A>C c.4035A>C (p.Gly1345=) c.3720A>C (p.Gly1240=) c.1617A>C (p.Gly539=) c.4059A>C (p.Gly1353=) c.4050A>C (p.Gly1350=) c.4041A>C (p.Gly1347=) c.2379A>C (p.Gly793=) | |
| X | g.108680913A>G | CA517923652 | COL4A5 | c.4044A>G (p.Gly1348=) c.4026A>G (p.Gly1342=) n.538A>G n.447A>G c.4035A>G (p.Gly1345=) c.3720A>G (p.Gly1240=) c.1617A>G (p.Gly539=) c.4059A>G (p.Gly1353=) c.4050A>G (p.Gly1350=) c.4041A>G (p.Gly1347=) c.2379A>G (p.Gly793=) | |
| X | g.108680913A>T | CA517923653 | COL4A5 | c.4044A>T (p.Gly1348=) c.4026A>T (p.Gly1342=) n.538A>T n.447A>T c.4035A>T (p.Gly1345=) c.3720A>T (p.Gly1240=) c.1617A>T (p.Gly539=) c.4059A>T (p.Gly1353=) c.4050A>T (p.Gly1350=) c.4041A>T (p.Gly1347=) c.2379A>T (p.Gly793=) | |
| X | g.108680914T>A | CA413851152 | COL4A5 | c.4045T>A (p.Ser1349Thr) c.4027T>A (p.Ser1343Thr) n.539T>A n.448T>A c.4036T>A (p.Ser1346Thr) c.3721T>A (p.Ser1241Thr) c.1618T>A (p.Ser540Thr) c.4060T>A (p.Ser1354Thr) c.4051T>A (p.Ser1351Thr) c.4042T>A (p.Ser1348Thr) c.2380T>A (p.Ser794Thr) | |
| X | g.108680914T>C | CA413851150 | COL4A5 | c.4045T>C (p.Ser1349Pro) c.4027T>C (p.Ser1343Pro) n.539T>C n.448T>C c.4036T>C (p.Ser1346Pro) c.3721T>C (p.Ser1241Pro) c.1618T>C (p.Ser540Pro) c.4060T>C (p.Ser1354Pro) c.4051T>C (p.Ser1351Pro) c.4042T>C (p.Ser1348Pro) c.2380T>C (p.Ser794Pro) | COSMIC COSMIC |
| X | g.108680914T>G | CA413851151 | COL4A5 | c.4045T>G (p.Ser1349Ala) c.4027T>G (p.Ser1343Ala) n.539T>G n.448T>G c.4036T>G (p.Ser1346Ala) c.3721T>G (p.Ser1241Ala) c.1618T>G (p.Ser540Ala) c.4060T>G (p.Ser1354Ala) c.4051T>G (p.Ser1351Ala) c.4042T>G (p.Ser1348Ala) c.2380T>G (p.Ser794Ala) | |
| X | g.108680915C>A | CA413851153 | COL4A5 | c.4046C>A (p.Ser1349Ter) c.4028C>A (p.Ser1343Ter) n.540C>A n.449C>A c.4037C>A (p.Ser1346Ter) c.3722C>A (p.Ser1241Ter) c.1619C>A (p.Ser540Ter) c.4061C>A (p.Ser1354Ter) c.4052C>A (p.Ser1351Ter) c.4043C>A (p.Ser1348Ter) c.2381C>A (p.Ser794Ter) | |
| X | g.108680915C>G | CA413851154 | COL4A5 | c.4046C>G (p.Ser1349Ter) c.4028C>G (p.Ser1343Ter) n.540C>G n.449C>G c.4037C>G (p.Ser1346Ter) c.3722C>G (p.Ser1241Ter) c.1619C>G (p.Ser540Ter) c.4061C>G (p.Ser1354Ter) c.4052C>G (p.Ser1351Ter) c.4043C>G (p.Ser1348Ter) c.2381C>G (p.Ser794Ter) | |
| X | g.108680915C>T | CA413851155 | COL4A5 | c.4046C>T (p.Ser1349Leu) c.4028C>T (p.Ser1343Leu) n.540C>T n.449C>T c.4037C>T (p.Ser1346Leu) c.3722C>T (p.Ser1241Leu) c.1619C>T (p.Ser540Leu) c.4061C>T (p.Ser1354Leu) c.4052C>T (p.Ser1351Leu) c.4043C>T (p.Ser1348Leu) c.2381C>T (p.Ser794Leu) | COSMIC COSMIC |
| X | g.108680916A>C | CA517923654 | COL4A5 | c.4047A>C (p.Ser1349=) c.4029A>C (p.Ser1343=) n.541A>C n.450A>C c.4038A>C (p.Ser1346=) c.3723A>C (p.Ser1241=) c.1620A>C (p.Ser540=) c.4062A>C (p.Ser1354=) c.4053A>C (p.Ser1351=) c.4044A>C (p.Ser1348=) c.2382A>C (p.Ser794=) | |
| X | g.108680916A>G | CA517923655 | COL4A5 | c.4047A>G (p.Ser1349=) c.4029A>G (p.Ser1343=) n.541A>G n.450A>G c.4038A>G (p.Ser1346=) c.3723A>G (p.Ser1241=) c.1620A>G (p.Ser540=) c.4062A>G (p.Ser1354=) c.4053A>G (p.Ser1351=) c.4044A>G (p.Ser1348=) c.2382A>G (p.Ser794=) | |
| X | g.108680916A>T | CA517923656 | COL4A5 | c.4047A>T (p.Ser1349=) c.4029A>T (p.Ser1343=) n.541A>T n.450A>T c.4038A>T (p.Ser1346=) c.3723A>T (p.Ser1241=) c.1620A>T (p.Ser540=) c.4062A>T (p.Ser1354=) c.4053A>T (p.Ser1351=) c.4044A>T (p.Ser1348=) c.2382A>T (p.Ser794=) | |
| X | g.108680917G>A | CA413851156 | COL4A5 | c.4048G>A (p.Ala1350Thr) c.4030G>A (p.Ala1344Thr) n.542G>A n.451G>A c.4039G>A (p.Ala1347Thr) c.3724G>A (p.Ala1242Thr) c.1621G>A (p.Ala541Thr) c.4063G>A (p.Ala1355Thr) c.4054G>A (p.Ala1352Thr) c.4045G>A (p.Ala1349Thr) c.2383G>A (p.Ala795Thr) | gnomAD v4 |
| X | g.108680917G>C | CA413851157 | COL4A5 | c.4048G>C (p.Ala1350Pro) c.4030G>C (p.Ala1344Pro) n.542G>C n.451G>C c.4039G>C (p.Ala1347Pro) c.3724G>C (p.Ala1242Pro) c.1621G>C (p.Ala541Pro) c.4063G>C (p.Ala1355Pro) c.4054G>C (p.Ala1352Pro) c.4045G>C (p.Ala1349Pro) c.2383G>C (p.Ala795Pro) | |
| X | g.108680917G>T | CA413851158 | COL4A5 | c.4048G>T (p.Ala1350Ser) c.4030G>T (p.Ala1344Ser) n.542G>T n.451G>T c.4039G>T (p.Ala1347Ser) c.3724G>T (p.Ala1242Ser) c.1621G>T (p.Ala541Ser) c.4063G>T (p.Ala1355Ser) c.4054G>T (p.Ala1352Ser) c.4045G>T (p.Ala1349Ser) c.2383G>T (p.Ala795Ser) | ClinVar COSMIC COSMIC |
| X | g.108680918C>A | CA413851161 | COL4A5 | c.4049C>A (p.Ala1350Asp) c.4031C>A (p.Ala1344Asp) n.543C>A n.452C>A c.4040C>A (p.Ala1347Asp) c.3725C>A (p.Ala1242Asp) c.1622C>A (p.Ala541Asp) c.4064C>A (p.Ala1355Asp) c.4055C>A (p.Ala1352Asp) c.4046C>A (p.Ala1349Asp) c.2384C>A (p.Ala795Asp) | |
| X | g.108680918C>G | CA413851160 | COL4A5 | c.4049C>G (p.Ala1350Gly) c.4031C>G (p.Ala1344Gly) n.543C>G n.452C>G c.4040C>G (p.Ala1347Gly) c.3725C>G (p.Ala1242Gly) c.1622C>G (p.Ala541Gly) c.4064C>G (p.Ala1355Gly) c.4055C>G (p.Ala1352Gly) c.4046C>G (p.Ala1349Gly) c.2384C>G (p.Ala795Gly) | |
| X | g.108680918C>T | CA413851159 | COL4A5 | c.4049C>T (p.Ala1350Val) c.4031C>T (p.Ala1344Val) n.543C>T n.452C>T c.4040C>T (p.Ala1347Val) c.3725C>T (p.Ala1242Val) c.1622C>T (p.Ala541Val) c.4064C>T (p.Ala1355Val) c.4055C>T (p.Ala1352Val) c.4046C>T (p.Ala1349Val) c.2384C>T (p.Ala795Val) | gnomAD v4 |
| X | g.108680919T>A | CA517923657 | COL4A5 | c.4050T>A (p.Ala1350=) c.4032T>A (p.Ala1344=) n.544T>A n.453T>A c.4041T>A (p.Ala1347=) c.3726T>A (p.Ala1242=) c.1623T>A (p.Ala541=) c.4065T>A (p.Ala1355=) c.4056T>A (p.Ala1352=) c.4047T>A (p.Ala1349=) c.2385T>A (p.Ala795=) | |
| X | g.108680919T>C | CA517923658 | COL4A5 | c.4050T>C (p.Ala1350=) c.4032T>C (p.Ala1344=) n.544T>C n.453T>C c.4041T>C (p.Ala1347=) c.3726T>C (p.Ala1242=) c.1623T>C (p.Ala541=) c.4065T>C (p.Ala1355=) c.4056T>C (p.Ala1352=) c.4047T>C (p.Ala1349=) c.2385T>C (p.Ala795=) | ClinVar |
| X | g.108680919T>G | CA517923659 | COL4A5 | c.4050T>G (p.Ala1350=) c.4032T>G (p.Ala1344=) n.544T>G n.453T>G c.4041T>G (p.Ala1347=) c.3726T>G (p.Ala1242=) c.1623T>G (p.Ala541=) c.4065T>G (p.Ala1355=) c.4056T>G (p.Ala1352=) c.4047T>G (p.Ala1349=) c.2385T>G (p.Ala795=) | |
| X | g.108680920G>A | CA413851162 | COL4A5 | c.4051G>A (p.Gly1351Ser) c.4033G>A (p.Gly1345Ser) n.545G>A n.454G>A c.4042G>A (p.Gly1348Ser) c.3727G>A (p.Gly1243Ser) c.1624G>A (p.Gly542Ser) c.4066G>A (p.Gly1356Ser) c.4057G>A (p.Gly1353Ser) c.4048G>A (p.Gly1350Ser) c.2386G>A (p.Gly796Ser) | |
| X | g.108680920G>C | CA413851163 | COL4A5 | c.4051G>C (p.Gly1351Arg) c.4033G>C (p.Gly1345Arg) n.545G>C n.454G>C c.4042G>C (p.Gly1348Arg) c.3727G>C (p.Gly1243Arg) c.1624G>C (p.Gly542Arg) c.4066G>C (p.Gly1356Arg) c.4057G>C (p.Gly1353Arg) c.4048G>C (p.Gly1350Arg) c.2386G>C (p.Gly796Arg) | |
| X | g.108680920G>T | CA413851164 | COL4A5 | c.4051G>T (p.Gly1351Cys) c.4033G>T (p.Gly1345Cys) n.545G>T n.454G>T c.4042G>T (p.Gly1348Cys) c.3727G>T (p.Gly1243Cys) c.1624G>T (p.Gly542Cys) c.4066G>T (p.Gly1356Cys) c.4057G>T (p.Gly1353Cys) c.4048G>T (p.Gly1350Cys) c.2386G>T (p.Gly796Cys) | |
| X | g.108680921del | CA2579677075 | COL4A5 | c.4052del (p.Gly1351AlafsTer26) c.4034del (p.Gly1345AlafsTer26) n.546del n.455del c.4043del (p.Gly1348AlafsTer26) c.3728del (p.Gly1243AlafsTer26) c.1625del (p.Gly542AlafsTer26) c.4067del (p.Gly1356AlafsTer26) c.4058del (p.Gly1353AlafsTer26) c.4049del (p.Gly1350AlafsTer26) c.2387del (p.Gly796AlafsTer26) | |
| X | g.108680921G>A | CA413851165 | COL4A5 | c.4052G>A (p.Gly1351Asp) c.4034G>A (p.Gly1345Asp) n.546G>A n.455G>A c.4043G>A (p.Gly1348Asp) c.3728G>A (p.Gly1243Asp) c.1625G>A (p.Gly542Asp) c.4067G>A (p.Gly1356Asp) c.4058G>A (p.Gly1353Asp) c.4049G>A (p.Gly1350Asp) c.2387G>A (p.Gly796Asp) | |
| X | g.108680921G>C | CA413851166 | COL4A5 | c.4052G>C (p.Gly1351Ala) c.4034G>C (p.Gly1345Ala) n.546G>C n.455G>C c.4043G>C (p.Gly1348Ala) c.3728G>C (p.Gly1243Ala) c.1625G>C (p.Gly542Ala) c.4067G>C (p.Gly1356Ala) c.4058G>C (p.Gly1353Ala) c.4049G>C (p.Gly1350Ala) c.2387G>C (p.Gly796Ala) | |
| X | g.108680921G>T | CA413851167 | COL4A5 | c.4052G>T (p.Gly1351Val) c.4034G>T (p.Gly1345Val) n.546G>T n.455G>T c.4043G>T (p.Gly1348Val) c.3728G>T (p.Gly1243Val) c.1625G>T (p.Gly542Val) c.4067G>T (p.Gly1356Val) c.4058G>T (p.Gly1353Val) c.4049G>T (p.Gly1350Val) c.2387G>T (p.Gly796Val) | COSMIC COSMIC |
| X | g.108680922C>A | CA517923660 | COL4A5 | c.4053C>A (p.Gly1351=) c.4035C>A (p.Gly1345=) n.547C>A n.456C>A c.4044C>A (p.Gly1348=) c.3729C>A (p.Gly1243=) c.1626C>A (p.Gly542=) c.4068C>A (p.Gly1356=) c.4059C>A (p.Gly1353=) c.4050C>A (p.Gly1350=) c.2388C>A (p.Gly796=) | |
| X | g.108680922C>G | CA517923661 | COL4A5 | c.4053C>G (p.Gly1351=) c.4035C>G (p.Gly1345=) n.547C>G n.456C>G c.4044C>G (p.Gly1348=) c.3729C>G (p.Gly1243=) c.1626C>G (p.Gly542=) c.4068C>G (p.Gly1356=) c.4059C>G (p.Gly1353=) c.4050C>G (p.Gly1350=) c.2388C>G (p.Gly796=) | |
| X | g.108680922C>T | CA517923662 | COL4A5 | c.4053C>T (p.Gly1351=) c.4035C>T (p.Gly1345=) n.547C>T n.456C>T c.4044C>T (p.Gly1348=) c.3729C>T (p.Gly1243=) c.1626C>T (p.Gly542=) c.4068C>T (p.Gly1356=) c.4059C>T (p.Gly1353=) c.4050C>T (p.Gly1350=) c.2388C>T (p.Gly796=) | |
| X | g.108680924del | CA2573055066 | COL4A5 | c.4055del (p.Pro1352LeufsTer25) c.4037del (p.Pro1346LeufsTer25) n.549del n.458del c.4046del (p.Pro1349LeufsTer25) c.3731del (p.Pro1244LeufsTer25) c.1628del (p.Pro543LeufsTer25) c.4070del (p.Pro1357LeufsTer25) c.4061del (p.Pro1354LeufsTer25) c.4052del (p.Pro1351LeufsTer25) c.2390del (p.Pro797LeufsTer25) | ClinVar dbSNP |
| X | g.108680923C>A | CA413851168 | COL4A5 | c.4054C>A (p.Pro1352Thr) c.4036C>A (p.Pro1346Thr) n.548C>A n.457C>A c.4045C>A (p.Pro1349Thr) c.3730C>A (p.Pro1244Thr) c.1627C>A (p.Pro543Thr) c.4069C>A (p.Pro1357Thr) c.4060C>A (p.Pro1354Thr) c.4051C>A (p.Pro1351Thr) c.2389C>A (p.Pro797Thr) | |
| X | g.108680923C>G | CA413851170 | COL4A5 | c.4054C>G (p.Pro1352Ala) c.4036C>G (p.Pro1346Ala) n.548C>G n.457C>G c.4045C>G (p.Pro1349Ala) c.3730C>G (p.Pro1244Ala) c.1627C>G (p.Pro543Ala) c.4069C>G (p.Pro1357Ala) c.4060C>G (p.Pro1354Ala) c.4051C>G (p.Pro1351Ala) c.2389C>G (p.Pro797Ala) | |
| X | g.108680923C>T | CA413851169 | COL4A5 | c.4054C>T (p.Pro1352Ser) c.4036C>T (p.Pro1346Ser) n.548C>T n.457C>T c.4045C>T (p.Pro1349Ser) c.3730C>T (p.Pro1244Ser) c.1627C>T (p.Pro543Ser) c.4069C>T (p.Pro1357Ser) c.4060C>T (p.Pro1354Ser) c.4051C>T (p.Pro1351Ser) c.2389C>T (p.Pro797Ser) | |
| X | g.108680924C>A | CA413851171 | COL4A5 | c.4055C>A (p.Pro1352His) c.4037C>A (p.Pro1346His) n.549C>A n.458C>A c.4046C>A (p.Pro1349His) c.3731C>A (p.Pro1244His) c.1628C>A (p.Pro543His) c.4070C>A (p.Pro1357His) c.4061C>A (p.Pro1354His) c.4052C>A (p.Pro1351His) c.2390C>A (p.Pro797His) | |
| X | g.108680924C>G | CA413851172 | COL4A5 | c.4055C>G (p.Pro1352Arg) c.4037C>G (p.Pro1346Arg) n.549C>G n.458C>G c.4046C>G (p.Pro1349Arg) c.3731C>G (p.Pro1244Arg) c.1628C>G (p.Pro543Arg) c.4070C>G (p.Pro1357Arg) c.4061C>G (p.Pro1354Arg) c.4052C>G (p.Pro1351Arg) c.2390C>G (p.Pro797Arg) | |
| X | g.108680924C>T | CA413851173 | COL4A5 | c.4055C>T (p.Pro1352Leu) c.4037C>T (p.Pro1346Leu) n.549C>T n.458C>T c.4046C>T (p.Pro1349Leu) c.3731C>T (p.Pro1244Leu) c.1628C>T (p.Pro543Leu) c.4070C>T (p.Pro1357Leu) c.4061C>T (p.Pro1354Leu) c.4052C>T (p.Pro1351Leu) c.2390C>T (p.Pro797Leu) | |
| X | g.108680925T>A | CA517923663 | COL4A5 | c.4056T>A (p.Pro1352=) c.4038T>A (p.Pro1346=) n.550T>A n.459T>A c.4047T>A (p.Pro1349=) c.3732T>A (p.Pro1244=) c.1629T>A (p.Pro543=) c.4071T>A (p.Pro1357=) c.4062T>A (p.Pro1354=) c.4053T>A (p.Pro1351=) c.2391T>A (p.Pro797=) | |
| X | g.108680925T>C | CA517923664 | COL4A5 | c.4056T>C (p.Pro1352=) c.4038T>C (p.Pro1346=) n.550T>C n.459T>C c.4047T>C (p.Pro1349=) c.3732T>C (p.Pro1244=) c.1629T>C (p.Pro543=) c.4071T>C (p.Pro1357=) c.4062T>C (p.Pro1354=) c.4053T>C (p.Pro1351=) c.2391T>C (p.Pro797=) | |
| X | g.108680925T>G | CA517923665 | COL4A5 | c.4056T>G (p.Pro1352=) c.4038T>G (p.Pro1346=) n.550T>G n.459T>G c.4047T>G (p.Pro1349=) c.3732T>G (p.Pro1244=) c.1629T>G (p.Pro543=) c.4071T>G (p.Pro1357=) c.4062T>G (p.Pro1354=) c.4053T>G (p.Pro1351=) c.2391T>G (p.Pro797=) | |
| X | g.108680926G>A | CA413851174 | COL4A5 | c.4057G>A (p.Glu1353Lys) c.4039G>A (p.Glu1347Lys) n.551G>A n.460G>A c.4048G>A (p.Glu1350Lys) c.3733G>A (p.Glu1245Lys) c.1630G>A (p.Glu544Lys) c.4072G>A (p.Glu1358Lys) c.4063G>A (p.Glu1355Lys) c.4054G>A (p.Glu1352Lys) c.2392G>A (p.Glu798Lys) | |
| X | g.108680926G>C | CA413851175 | COL4A5 | c.4057G>C (p.Glu1353Gln) c.4039G>C (p.Glu1347Gln) n.551G>C n.460G>C c.4048G>C (p.Glu1350Gln) c.3733G>C (p.Glu1245Gln) c.1630G>C (p.Glu544Gln) c.4072G>C (p.Glu1358Gln) c.4063G>C (p.Glu1355Gln) c.4054G>C (p.Glu1352Gln) c.2392G>C (p.Glu798Gln) | |
| X | g.108680926G>T | CA413851176 | COL4A5 | c.4057G>T (p.Glu1353Ter) c.4039G>T (p.Glu1347Ter) n.551G>T n.460G>T c.4048G>T (p.Glu1350Ter) c.3733G>T (p.Glu1245Ter) c.1630G>T (p.Glu544Ter) c.4072G>T (p.Glu1358Ter) c.4063G>T (p.Glu1355Ter) c.4054G>T (p.Glu1352Ter) c.2392G>T (p.Glu798Ter) | ClinVar |
| X | g.108680927A>C | CA413851177 | COL4A5 | c.4058A>C (p.Glu1353Ala) c.4040A>C (p.Glu1347Ala) n.552A>C n.461A>C c.4049A>C (p.Glu1350Ala) c.3734A>C (p.Glu1245Ala) c.1631A>C (p.Glu544Ala) c.4073A>C (p.Glu1358Ala) c.4064A>C (p.Glu1355Ala) c.4055A>C (p.Glu1352Ala) c.2393A>C (p.Glu798Ala) | |
| X | g.108680927A>G | CA413851178 | COL4A5 | c.4058A>G (p.Glu1353Gly) c.4040A>G (p.Glu1347Gly) n.552A>G n.461A>G c.4049A>G (p.Glu1350Gly) c.3734A>G (p.Glu1245Gly) c.1631A>G (p.Glu544Gly) c.4073A>G (p.Glu1358Gly) c.4064A>G (p.Glu1355Gly) c.4055A>G (p.Glu1352Gly) c.2393A>G (p.Glu798Gly) | |
| X | g.108680927A>T | CA413851179 | COL4A5 | c.4058A>T (p.Glu1353Val) c.4040A>T (p.Glu1347Val) n.552A>T n.461A>T c.4049A>T (p.Glu1350Val) c.3734A>T (p.Glu1245Val) c.1631A>T (p.Glu544Val) c.4073A>T (p.Glu1358Val) c.4064A>T (p.Glu1355Val) c.4055A>T (p.Glu1352Val) c.2393A>T (p.Glu798Val) | |
| X | g.108680927_108680928delinsAG | CA2450716908 | COL4A5 | c.4058_4059delinsAG (p.Glu1353=) c.4040_4041delinsAG (p.Glu1347=) n.552_553delinsAG n.461_462delinsAG c.4049_4050delinsAG (p.Glu1350=) c.3734_3735delinsAG (p.Glu1245=) c.1631_1632delinsAG (p.Glu544=) c.4073_4074delinsAG (p.Glu1358=) c.4064_4065delinsAG (p.Glu1355=) c.4055_4056delinsAG (p.Glu1352=) c.2393_2394delinsAG (p.Glu798=) | |
| X | g.108680928G>A | CA517923666 | COL4A5 | c.4059G>A (p.Glu1353=) c.4041G>A (p.Glu1347=) n.553G>A n.462G>A c.4050G>A (p.Glu1350=) c.3735G>A (p.Glu1245=) c.1632G>A (p.Glu544=) c.4074G>A (p.Glu1358=) c.4065G>A (p.Glu1355=) c.4056G>A (p.Glu1352=) c.2394G>A (p.Glu798=) | |
| X | g.108680928G>C | CA413851180 | COL4A5 | c.4059G>C (p.Glu1353Asp) c.4041G>C (p.Glu1347Asp) n.553G>C n.462G>C c.4050G>C (p.Glu1350Asp) c.3735G>C (p.Glu1245Asp) c.1632G>C (p.Glu544Asp) c.4074G>C (p.Glu1358Asp) c.4065G>C (p.Glu1355Asp) c.4056G>C (p.Glu1352Asp) c.2394G>C (p.Glu798Asp) | |
| X | g.108680928G>T | CA413851181 | COL4A5 | c.4059G>T (p.Glu1353Asp) c.4041G>T (p.Glu1347Asp) n.553G>T n.462G>T c.4050G>T (p.Glu1350Asp) c.3735G>T (p.Glu1245Asp) c.1632G>T (p.Glu544Asp) c.4074G>T (p.Glu1358Asp) c.4065G>T (p.Glu1355Asp) c.4056G>T (p.Glu1352Asp) c.2394G>T (p.Glu798Asp) | gnomAD v4 |
| X | g.108680932dup | CA2695235670 | COL4A5 | c.4063dup (p.Glu1355GlyfsTer24) c.4045dup (p.Glu1349GlyfsTer24) n.557dup n.466dup c.4054dup (p.Glu1352GlyfsTer24) c.3739dup (p.Glu1247GlyfsTer24) c.1636dup (p.Glu546GlyfsTer24) c.4078dup (p.Glu1360GlyfsTer24) c.4069dup (p.Glu1357GlyfsTer24) c.4060dup (p.Glu1354GlyfsTer24) c.2398dup (p.Glu800GlyfsTer24) | |
| X | g.108680932del | CA658659033 | COL4A5 | c.4063del (p.Glu1355AsnfsTer22) c.4045del (p.Glu1349AsnfsTer22) n.557del n.466del c.4054del (p.Glu1352AsnfsTer22) c.3739del (p.Glu1247AsnfsTer22) c.1636del (p.Glu546AsnfsTer22) c.4078del (p.Glu1360AsnfsTer22) c.4069del (p.Glu1357AsnfsTer22) c.4060del (p.Glu1354AsnfsTer22) c.2398del (p.Glu800AsnfsTer22) | ClinVar dbSNP |
| X | g.108680929G>A | CA413851182 | COL4A5 | c.4060G>A (p.Gly1354Arg) c.4042G>A (p.Gly1348Arg) n.554G>A n.463G>A c.4051G>A (p.Gly1351Arg) c.3736G>A (p.Gly1246Arg) c.1633G>A (p.Gly545Arg) c.4075G>A (p.Gly1359Arg) c.4066G>A (p.Gly1356Arg) c.4057G>A (p.Gly1353Arg) c.2395G>A (p.Gly799Arg) | |
| X | g.108680929G>C | CA413851184 | COL4A5 | c.4060G>C (p.Gly1354Arg) c.4042G>C (p.Gly1348Arg) n.554G>C n.463G>C c.4051G>C (p.Gly1351Arg) c.3736G>C (p.Gly1246Arg) c.1633G>C (p.Gly545Arg) c.4075G>C (p.Gly1359Arg) c.4066G>C (p.Gly1356Arg) c.4057G>C (p.Gly1353Arg) c.2395G>C (p.Gly799Arg) | |
| X | g.108680929G>T | CA413851183 | COL4A5 | c.4060G>T (p.Gly1354Trp) c.4042G>T (p.Gly1348Trp) n.554G>T n.463G>T c.4051G>T (p.Gly1351Trp) c.3736G>T (p.Gly1246Trp) c.1633G>T (p.Gly545Trp) c.4075G>T (p.Gly1359Trp) c.4066G>T (p.Gly1356Trp) c.4057G>T (p.Gly1353Trp) c.2395G>T (p.Gly799Trp) | ClinVar |
| X | g.108680930G>A | CA413851185 | COL4A5 | c.4061G>A (p.Gly1354Glu) c.4043G>A (p.Gly1348Glu) n.555G>A n.464G>A c.4052G>A (p.Gly1351Glu) c.3737G>A (p.Gly1246Glu) c.1634G>A (p.Gly545Glu) c.4076G>A (p.Gly1359Glu) c.4067G>A (p.Gly1356Glu) c.4058G>A (p.Gly1353Glu) c.2396G>A (p.Gly799Glu) | COSMIC COSMIC |
| X | g.108680930G>C | CA413851186 | COL4A5 | c.4061G>C (p.Gly1354Ala) c.4043G>C (p.Gly1348Ala) n.555G>C n.464G>C c.4052G>C (p.Gly1351Ala) c.3737G>C (p.Gly1246Ala) c.1634G>C (p.Gly545Ala) c.4076G>C (p.Gly1359Ala) c.4067G>C (p.Gly1356Ala) c.4058G>C (p.Gly1353Ala) c.2396G>C (p.Gly799Ala) | |
| X | g.108680930G>T | CA413851187 | COL4A5 | c.4061G>T (p.Gly1354Val) c.4043G>T (p.Gly1348Val) n.555G>T n.464G>T c.4052G>T (p.Gly1351Val) c.3737G>T (p.Gly1246Val) c.1634G>T (p.Gly545Val) c.4076G>T (p.Gly1359Val) c.4067G>T (p.Gly1356Val) c.4058G>T (p.Gly1353Val) c.2396G>T (p.Gly799Val) | |
| X | g.108680930_108680931delinsAT | CA2740097970 | COL4A5 | c.4061_4062delinsAT (p.Gly1354Asp) c.4043_4044delinsAT (p.Gly1348Asp) n.555_556delinsAT n.464_465delinsAT c.4052_4053delinsAT (p.Gly1351Asp) c.3737_3738delinsAT (p.Gly1246Asp) c.1634_1635delinsAT (p.Gly545Asp) c.4076_4077delinsAT (p.Gly1359Asp) c.4067_4068delinsAT (p.Gly1356Asp) c.4058_4059delinsAT (p.Gly1353Asp) c.2396_2397delinsAT (p.Gly799Asp) | ClinVar |
| X | g.108680930_108680939delinsAGGA | CA2695235671 | COL4A5 | c.4061_4070delinsAGGA (p.Gly1354_Gly1357delinsGluGlu) c.4043_4052delinsAGGA (p.Gly1348_Gly1351delinsGluGlu) n.555_564delinsAGGA n.464_473delinsAGGA c.4052_4061delinsAGGA (p.Gly1351_Gly1354delinsGluGlu) c.3737_3746delinsAGGA (p.Gly1246_Gly1249delinsGluGlu) c.1634_1643delinsAGGA (p.Gly545_Gly548delinsGluGlu) c.4076_4085delinsAGGA (p.Gly1359_Gly1362delinsGluGlu) c.4067_4076delinsAGGA (p.Gly1356_Gly1359delinsGluGlu) c.4058_4067delinsAGGA (p.Gly1353_Gly1356delinsGluGlu) c.2396_2405delinsAGGA (p.Gly799_Gly802delinsGluGlu) | |
| X | g.108680931G>A | CA517923667 | COL4A5 | c.4062G>A (p.Gly1354=) c.4044G>A (p.Gly1348=) n.556G>A n.465G>A c.4053G>A (p.Gly1351=) c.3738G>A (p.Gly1246=) c.1635G>A (p.Gly545=) c.4077G>A (p.Gly1359=) c.4068G>A (p.Gly1356=) c.4059G>A (p.Gly1353=) c.2397G>A (p.Gly799=) | |
| X | g.108680931G>C | CA517923668 | COL4A5 | c.4062G>C (p.Gly1354=) c.4044G>C (p.Gly1348=) n.556G>C n.465G>C c.4053G>C (p.Gly1351=) c.3738G>C (p.Gly1246=) c.1635G>C (p.Gly545=) c.4077G>C (p.Gly1359=) c.4068G>C (p.Gly1356=) c.4059G>C (p.Gly1353=) c.2397G>C (p.Gly799=) | |
| X | g.108680931G>T | CA517923669 | COL4A5 | c.4062G>T (p.Gly1354=) c.4044G>T (p.Gly1348=) n.556G>T n.465G>T c.4053G>T (p.Gly1351=) c.3738G>T (p.Gly1246=) c.1635G>T (p.Gly545=) c.4077G>T (p.Gly1359=) c.4068G>T (p.Gly1356=) c.4059G>T (p.Gly1353=) c.2397G>T (p.Gly799=) | |
| X | g.108680932G>A | CA413851188 | COL4A5 | c.4063G>A (p.Glu1355Lys) c.4045G>A (p.Glu1349Lys) n.557G>A n.466G>A c.4054G>A (p.Glu1352Lys) c.3739G>A (p.Glu1247Lys) c.1636G>A (p.Glu546Lys) c.4078G>A (p.Glu1360Lys) c.4069G>A (p.Glu1357Lys) c.4060G>A (p.Glu1354Lys) c.2398G>A (p.Glu800Lys) | gnomAD v4 COSMIC COSMIC |
| X | g.108680932G>C | CA413851189 | COL4A5 | c.4063G>C (p.Glu1355Gln) c.4045G>C (p.Glu1349Gln) n.557G>C n.466G>C c.4054G>C (p.Glu1352Gln) c.3739G>C (p.Glu1247Gln) c.1636G>C (p.Glu546Gln) c.4078G>C (p.Glu1360Gln) c.4069G>C (p.Glu1357Gln) c.4060G>C (p.Glu1354Gln) c.2398G>C (p.Glu800Gln) | |
| X | g.108680932G>T | CA413851190 | COL4A5 | c.4063G>T (p.Glu1355Ter) c.4045G>T (p.Glu1349Ter) n.557G>T n.466G>T c.4054G>T (p.Glu1352Ter) c.3739G>T (p.Glu1247Ter) c.1636G>T (p.Glu546Ter) c.4078G>T (p.Glu1360Ter) c.4069G>T (p.Glu1357Ter) c.4060G>T (p.Glu1354Ter) c.2398G>T (p.Glu800Ter) | |
| X | g.108680933A>C | CA413851191 | COL4A5 | c.4064A>C (p.Glu1355Ala) c.4046A>C (p.Glu1349Ala) n.558A>C n.467A>C c.4055A>C (p.Glu1352Ala) c.3740A>C (p.Glu1247Ala) c.1637A>C (p.Glu546Ala) c.4079A>C (p.Glu1360Ala) c.4070A>C (p.Glu1357Ala) c.4061A>C (p.Glu1354Ala) c.2399A>C (p.Glu800Ala) | |
| X | g.108680933A>G | CA413851192 | COL4A5 | c.4064A>G (p.Glu1355Gly) c.4046A>G (p.Glu1349Gly) n.558A>G n.467A>G c.4055A>G (p.Glu1352Gly) c.3740A>G (p.Glu1247Gly) c.1637A>G (p.Glu546Gly) c.4079A>G (p.Glu1360Gly) c.4070A>G (p.Glu1357Gly) c.4061A>G (p.Glu1354Gly) c.2399A>G (p.Glu800Gly) | |
| X | g.108680933A>T | CA413851193 | COL4A5 | c.4064A>T (p.Glu1355Val) c.4046A>T (p.Glu1349Val) n.558A>T n.467A>T c.4055A>T (p.Glu1352Val) c.3740A>T (p.Glu1247Val) c.1637A>T (p.Glu546Val) c.4079A>T (p.Glu1360Val) c.4070A>T (p.Glu1357Val) c.4061A>T (p.Glu1354Val) c.2399A>T (p.Glu800Val) | |
| X | g.108680934A= | CA2450716909 | COL4A5 | c.4065A= (p.Glu1355=) c.4047A= (p.Glu1349=) n.559A= n.468A= c.4056A= (p.Glu1352=) c.3741A= (p.Glu1247=) c.1638A= (p.Glu546=) c.4080A= (p.Glu1360=) c.4071A= (p.Glu1357=) c.4062A= (p.Glu1354=) c.2400A= (p.Glu800=) | |
| X | g.108680934A>C | CA334054743 | COL4A5 | c.4065A>C (p.Glu1355Asp) c.4047A>C (p.Glu1349Asp) n.559A>C n.468A>C c.4056A>C (p.Glu1352Asp) c.3741A>C (p.Glu1247Asp) c.1638A>C (p.Glu546Asp) c.4080A>C (p.Glu1360Asp) c.4071A>C (p.Glu1357Asp) c.4062A>C (p.Glu1354Asp) c.2400A>C (p.Glu800Asp) | dbSNP |
| X | g.108680934A>G | CA517923670 | COL4A5 | c.4065A>G (p.Glu1355=) c.4047A>G (p.Glu1349=) n.559A>G n.468A>G c.4056A>G (p.Glu1352=) c.3741A>G (p.Glu1247=) c.1638A>G (p.Glu546=) c.4080A>G (p.Glu1360=) c.4071A>G (p.Glu1357=) c.4062A>G (p.Glu1354=) c.2400A>G (p.Glu800=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108680934A>T | CA413851194 | COL4A5 | c.4065A>T (p.Glu1355Asp) c.4047A>T (p.Glu1349Asp) n.559A>T n.468A>T c.4056A>T (p.Glu1352Asp) c.3741A>T (p.Glu1247Asp) c.1638A>T (p.Glu546Asp) c.4080A>T (p.Glu1360Asp) c.4071A>T (p.Glu1357Asp) c.4062A>T (p.Glu1354Asp) c.2400A>T (p.Glu800Asp) | |
| X | g.108680935C>A | CA413851195 | COL4A5 | c.4066C>A (p.Pro1356Thr) c.4048C>A (p.Pro1350Thr) n.560C>A n.469C>A c.4057C>A (p.Pro1353Thr) c.3742C>A (p.Pro1248Thr) c.1639C>A (p.Pro547Thr) c.4081C>A (p.Pro1361Thr) c.4072C>A (p.Pro1358Thr) c.4063C>A (p.Pro1355Thr) c.2401C>A (p.Pro801Thr) | |
| X | g.108680935C>G | CA413851196 | COL4A5 | c.4066C>G (p.Pro1356Ala) c.4048C>G (p.Pro1350Ala) n.560C>G n.469C>G c.4057C>G (p.Pro1353Ala) c.3742C>G (p.Pro1248Ala) c.1639C>G (p.Pro547Ala) c.4081C>G (p.Pro1361Ala) c.4072C>G (p.Pro1358Ala) c.4063C>G (p.Pro1355Ala) c.2401C>G (p.Pro801Ala) | |
| X | g.108680935C>T | CA413851197 | COL4A5 | c.4066C>T (p.Pro1356Ser) c.4048C>T (p.Pro1350Ser) n.560C>T n.469C>T c.4057C>T (p.Pro1353Ser) c.3742C>T (p.Pro1248Ser) c.1639C>T (p.Pro547Ser) c.4081C>T (p.Pro1361Ser) c.4072C>T (p.Pro1358Ser) c.4063C>T (p.Pro1355Ser) c.2401C>T (p.Pro801Ser) | |
| X | g.108680936C>A | CA413851199 | COL4A5 | c.4067C>A (p.Pro1356Gln) c.4049C>A (p.Pro1350Gln) n.561C>A n.470C>A c.4058C>A (p.Pro1353Gln) c.3743C>A (p.Pro1248Gln) c.1640C>A (p.Pro547Gln) c.4082C>A (p.Pro1361Gln) c.4073C>A (p.Pro1358Gln) c.4064C>A (p.Pro1355Gln) c.2402C>A (p.Pro801Gln) | |
| X | g.108680936C= | CA2450716910 | COL4A5 | c.4067C= (p.Pro1356=) c.4049C= (p.Pro1350=) n.561C= n.470C= c.4058C= (p.Pro1353=) c.3743C= (p.Pro1248=) c.1640C= (p.Pro547=) c.4082C= (p.Pro1361=) c.4073C= (p.Pro1358=) c.4064C= (p.Pro1355=) c.2402C= (p.Pro801=) | |
| X | g.108680936C>G | CA413851198 | COL4A5 | c.4067C>G (p.Pro1356Arg) c.4049C>G (p.Pro1350Arg) n.561C>G n.470C>G c.4058C>G (p.Pro1353Arg) c.3743C>G (p.Pro1248Arg) c.1640C>G (p.Pro547Arg) c.4082C>G (p.Pro1361Arg) c.4073C>G (p.Pro1358Arg) c.4064C>G (p.Pro1355Arg) c.2402C>G (p.Pro801Arg) | |
| X | g.108680936C>T | CA10489280 | COL4A5 | c.4067C>T (p.Pro1356Leu) c.4049C>T (p.Pro1350Leu) n.561C>T n.470C>T c.4058C>T (p.Pro1353Leu) c.3743C>T (p.Pro1248Leu) c.1640C>T (p.Pro547Leu) c.4082C>T (p.Pro1361Leu) c.4073C>T (p.Pro1358Leu) c.4064C>T (p.Pro1355Leu) c.2402C>T (p.Pro801Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680937G>A | CA10489281 | COL4A5 | c.4068G>A (p.Pro1356=) c.4050G>A (p.Pro1350=) n.562G>A n.471G>A c.4059G>A (p.Pro1353=) c.3744G>A (p.Pro1248=) c.1641G>A (p.Pro547=) c.4083G>A (p.Pro1361=) c.4074G>A (p.Pro1358=) c.4065G>A (p.Pro1355=) c.2403G>A (p.Pro801=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.108680937G>C | CA517923672 | COL4A5 | c.4068G>C (p.Pro1356=) c.4050G>C (p.Pro1350=) n.562G>C n.471G>C c.4059G>C (p.Pro1353=) c.3744G>C (p.Pro1248=) c.1641G>C (p.Pro547=) c.4083G>C (p.Pro1361=) c.4074G>C (p.Pro1358=) c.4065G>C (p.Pro1355=) c.2403G>C (p.Pro801=) | |
| X | g.108680937G= | CA2450716911 | COL4A5 | c.4068G= (p.Pro1356=) c.4050G= (p.Pro1350=) n.562G= n.471G= c.4059G= (p.Pro1353=) c.3744G= (p.Pro1248=) c.1641G= (p.Pro547=) c.4083G= (p.Pro1361=) c.4074G= (p.Pro1358=) c.4065G= (p.Pro1355=) c.2403G= (p.Pro801=) | |
| X | g.108680937G>T | CA517923671 | COL4A5 | c.4068G>T (p.Pro1356=) c.4050G>T (p.Pro1350=) n.562G>T n.471G>T c.4059G>T (p.Pro1353=) c.3744G>T (p.Pro1248=) c.1641G>T (p.Pro547=) c.4083G>T (p.Pro1361=) c.4074G>T (p.Pro1358=) c.4065G>T (p.Pro1355=) c.2403G>T (p.Pro801=) | ClinVar dbSNP |
| X | g.108680938G>A | CA413851200 | COL4A5 | c.4069G>A (p.Gly1357Arg) c.4051G>A (p.Gly1351Arg) n.563G>A n.472G>A c.4060G>A (p.Gly1354Arg) c.3745G>A (p.Gly1249Arg) c.1642G>A (p.Gly548Arg) c.4084G>A (p.Gly1362Arg) c.4075G>A (p.Gly1359Arg) c.4066G>A (p.Gly1356Arg) c.2404G>A (p.Gly802Arg) | ClinVar |
| X | g.108680938G>C | CA413851201 | COL4A5 | c.4069G>C (p.Gly1357Arg) c.4051G>C (p.Gly1351Arg) n.563G>C n.472G>C c.4060G>C (p.Gly1354Arg) c.3745G>C (p.Gly1249Arg) c.1642G>C (p.Gly548Arg) c.4084G>C (p.Gly1362Arg) c.4075G>C (p.Gly1359Arg) c.4066G>C (p.Gly1356Arg) c.2404G>C (p.Gly802Arg) | |
| X | g.108680938G>T | CA413851202 | COL4A5 | c.4069G>T (p.Gly1357Ter) c.4051G>T (p.Gly1351Ter) n.563G>T n.472G>T c.4060G>T (p.Gly1354Ter) c.3745G>T (p.Gly1249Ter) c.1642G>T (p.Gly548Ter) c.4084G>T (p.Gly1362Ter) c.4075G>T (p.Gly1359Ter) c.4066G>T (p.Gly1356Ter) c.2404G>T (p.Gly802Ter) | ClinVar |
| X | g.108680939G>A | CA334054787 | COL4A5 | c.4070G>A (p.Gly1357Glu) c.4052G>A (p.Gly1351Glu) n.564G>A n.473G>A c.4061G>A (p.Gly1354Glu) c.3746G>A (p.Gly1249Glu) c.1643G>A (p.Gly548Glu) c.4085G>A (p.Gly1362Glu) c.4076G>A (p.Gly1359Glu) c.4067G>A (p.Gly1356Glu) c.2405G>A (p.Gly802Glu) | ClinVar dbSNP |
| X | g.108680939G>C | CA413851203 | COL4A5 | c.4070G>C (p.Gly1357Ala) c.4052G>C (p.Gly1351Ala) n.564G>C n.473G>C c.4061G>C (p.Gly1354Ala) c.3746G>C (p.Gly1249Ala) c.1643G>C (p.Gly548Ala) c.4085G>C (p.Gly1362Ala) c.4076G>C (p.Gly1359Ala) c.4067G>C (p.Gly1356Ala) c.2405G>C (p.Gly802Ala) | |
| X | g.108680939G= | CA2450716912 | COL4A5 | c.4070G= (p.Gly1357=) c.4052G= (p.Gly1351=) n.564G= n.473G= c.4061G= (p.Gly1354=) c.3746G= (p.Gly1249=) c.1643G= (p.Gly548=) c.4085G= (p.Gly1362=) c.4076G= (p.Gly1359=) c.4067G= (p.Gly1356=) c.2405G= (p.Gly802=) | |
| X | g.108680939G>T | CA413851204 | COL4A5 | c.4070G>T (p.Gly1357Val) c.4052G>T (p.Gly1351Val) n.564G>T n.473G>T c.4061G>T (p.Gly1354Val) c.3746G>T (p.Gly1249Val) c.1643G>T (p.Gly548Val) c.4085G>T (p.Gly1362Val) c.4076G>T (p.Gly1359Val) c.4067G>T (p.Gly1356Val) c.2405G>T (p.Gly802Val) | |
| X | g.108680940A= | CA2450716913 | COL4A5 | c.4071A= (p.Gly1357=) c.4053A= (p.Gly1351=) n.565A= n.474A= c.4062A= (p.Gly1354=) c.3747A= (p.Gly1249=) c.1644A= (p.Gly548=) c.4086A= (p.Gly1362=) c.4077A= (p.Gly1359=) c.4068A= (p.Gly1356=) c.2406A= (p.Gly802=) | |
| X | g.108680940A>C | CA517923673 | COL4A5 | c.4071A>C (p.Gly1357=) c.4053A>C (p.Gly1351=) n.565A>C n.474A>C c.4062A>C (p.Gly1354=) c.3747A>C (p.Gly1249=) c.1644A>C (p.Gly548=) c.4086A>C (p.Gly1362=) c.4077A>C (p.Gly1359=) c.4068A>C (p.Gly1356=) c.2406A>C (p.Gly802=) | |
| X | g.108680940A>G | CA10489282 | COL4A5 | c.4071A>G (p.Gly1357=) c.4053A>G (p.Gly1351=) n.565A>G n.474A>G c.4062A>G (p.Gly1354=) c.3747A>G (p.Gly1249=) c.1644A>G (p.Gly548=) c.4086A>G (p.Gly1362=) c.4077A>G (p.Gly1359=) c.4068A>G (p.Gly1356=) c.2406A>G (p.Gly802=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108680940A>T | CA517923674 | COL4A5 | c.4071A>T (p.Gly1357=) c.4053A>T (p.Gly1351=) n.565A>T n.474A>T c.4062A>T (p.Gly1354=) c.3747A>T (p.Gly1249=) c.1644A>T (p.Gly548=) c.4086A>T (p.Gly1362=) c.4077A>T (p.Gly1359=) c.4068A>T (p.Gly1356=) c.2406A>T (p.Gly802=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108680941C>A | CA10489283 | COL4A5 | c.4072C>A (p.Leu1358Ile) c.4054C>A (p.Leu1352Ile) n.566C>A n.475C>A c.4063C>A (p.Leu1355Ile) c.3748C>A (p.Leu1250Ile) c.1645C>A (p.Leu549Ile) c.4087C>A (p.Leu1363Ile) c.4078C>A (p.Leu1360Ile) c.4069C>A (p.Leu1357Ile) c.2407C>A (p.Leu803Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680941C= | CA2450716914 | COL4A5 | c.4072C= (p.Leu1358=) c.4054C= (p.Leu1352=) n.566C= n.475C= c.4063C= (p.Leu1355=) c.3748C= (p.Leu1250=) c.1645C= (p.Leu549=) c.4087C= (p.Leu1363=) c.4078C= (p.Leu1360=) c.4069C= (p.Leu1357=) c.2407C= (p.Leu803=) | |
| X | g.108680941C>G | CA413851205 | COL4A5 | c.4072C>G (p.Leu1358Val) c.4054C>G (p.Leu1352Val) n.566C>G n.475C>G c.4063C>G (p.Leu1355Val) c.3748C>G (p.Leu1250Val) c.1645C>G (p.Leu549Val) c.4087C>G (p.Leu1363Val) c.4078C>G (p.Leu1360Val) c.4069C>G (p.Leu1357Val) c.2407C>G (p.Leu803Val) | gnomAD v4 |
| X | g.108680941C>T | CA413851206 | COL4A5 | c.4072C>T (p.Leu1358Phe) c.4054C>T (p.Leu1352Phe) n.566C>T n.475C>T c.4063C>T (p.Leu1355Phe) c.3748C>T (p.Leu1250Phe) c.1645C>T (p.Leu549Phe) c.4087C>T (p.Leu1363Phe) c.4078C>T (p.Leu1360Phe) c.4069C>T (p.Leu1357Phe) c.2407C>T (p.Leu803Phe) | |
| X | g.108680942T>A | CA413851207 | COL4A5 | c.4073T>A (p.Leu1358His) c.4055T>A (p.Leu1352His) n.567T>A n.476T>A c.4064T>A (p.Leu1355His) c.3749T>A (p.Leu1250His) c.1646T>A (p.Leu549His) c.4088T>A (p.Leu1363His) c.4079T>A (p.Leu1360His) c.4070T>A (p.Leu1357His) c.2408T>A (p.Leu803His) | |
| X | g.108680942T>C | CA413851208 | COL4A5 | c.4073T>C (p.Leu1358Pro) c.4055T>C (p.Leu1352Pro) n.567T>C n.476T>C c.4064T>C (p.Leu1355Pro) c.3749T>C (p.Leu1250Pro) c.1646T>C (p.Leu549Pro) c.4088T>C (p.Leu1363Pro) c.4079T>C (p.Leu1360Pro) c.4070T>C (p.Leu1357Pro) c.2408T>C (p.Leu803Pro) | |
| X | g.108680942T>G | CA413851209 | COL4A5 | c.4073T>G (p.Leu1358Arg) c.4055T>G (p.Leu1352Arg) n.567T>G n.476T>G c.4064T>G (p.Leu1355Arg) c.3749T>G (p.Leu1250Arg) c.1646T>G (p.Leu549Arg) c.4088T>G (p.Leu1363Arg) c.4079T>G (p.Leu1360Arg) c.4070T>G (p.Leu1357Arg) c.2408T>G (p.Leu803Arg) | |
| X | g.108680943T>A | CA517923675 | COL4A5 | c.4074T>A (p.Leu1358=) c.4056T>A (p.Leu1352=) n.568T>A n.477T>A c.4065T>A (p.Leu1355=) c.3750T>A (p.Leu1250=) c.1647T>A (p.Leu549=) c.4089T>A (p.Leu1363=) c.4080T>A (p.Leu1360=) c.4071T>A (p.Leu1357=) c.2409T>A (p.Leu803=) | |
| X | g.108680943T>C | CA517923676 | COL4A5 | c.4074T>C (p.Leu1358=) c.4056T>C (p.Leu1352=) n.568T>C n.477T>C c.4065T>C (p.Leu1355=) c.3750T>C (p.Leu1250=) c.1647T>C (p.Leu549=) c.4089T>C (p.Leu1363=) c.4080T>C (p.Leu1360=) c.4071T>C (p.Leu1357=) c.2409T>C (p.Leu803=) | |
| X | g.108680943T>G | CA517923677 | COL4A5 | c.4074T>G (p.Leu1358=) c.4056T>G (p.Leu1352=) n.568T>G n.477T>G c.4065T>G (p.Leu1355=) c.3750T>G (p.Leu1250=) c.1647T>G (p.Leu549=) c.4089T>G (p.Leu1363=) c.4080T>G (p.Leu1360=) c.4071T>G (p.Leu1357=) c.2409T>G (p.Leu803=) | |
| X | g.108680944A= | CA2450716915 | COL4A5 | c.4075A= (p.Ile1359=) c.4057A= (p.Ile1353=) n.569A= n.478A= c.4066A= (p.Ile1356=) c.3751A= (p.Ile1251=) c.1648A= (p.Ile550=) c.4090A= (p.Ile1364=) c.4081A= (p.Ile1361=) c.4072A= (p.Ile1358=) c.2410A= (p.Ile804=) | |
| X | g.108680944A>C | CA413851211 | COL4A5 | c.4075A>C (p.Ile1359Leu) c.4057A>C (p.Ile1353Leu) n.569A>C n.478A>C c.4066A>C (p.Ile1356Leu) c.3751A>C (p.Ile1251Leu) c.1648A>C (p.Ile550Leu) c.4090A>C (p.Ile1364Leu) c.4081A>C (p.Ile1361Leu) c.4072A>C (p.Ile1358Leu) c.2410A>C (p.Ile804Leu) | |
| X | g.108680944A>G | CA10489284 | COL4A5 | c.4075A>G (p.Ile1359Val) c.4057A>G (p.Ile1353Val) n.569A>G n.478A>G c.4066A>G (p.Ile1356Val) c.3751A>G (p.Ile1251Val) c.1648A>G (p.Ile550Val) c.4090A>G (p.Ile1364Val) c.4081A>G (p.Ile1361Val) c.4072A>G (p.Ile1358Val) c.2410A>G (p.Ile804Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680944A>T | CA413851210 | COL4A5 | c.4075A>T (p.Ile1359Phe) c.4057A>T (p.Ile1353Phe) n.569A>T n.478A>T c.4066A>T (p.Ile1356Phe) c.3751A>T (p.Ile1251Phe) c.1648A>T (p.Ile550Phe) c.4090A>T (p.Ile1364Phe) c.4081A>T (p.Ile1361Phe) c.4072A>T (p.Ile1358Phe) c.2410A>T (p.Ile804Phe) | |
| X | g.108680945T>A | CA413851213 | COL4A5 | c.4076T>A (p.Ile1359Asn) c.4058T>A (p.Ile1353Asn) n.570T>A n.479T>A c.4067T>A (p.Ile1356Asn) c.3752T>A (p.Ile1251Asn) c.1649T>A (p.Ile550Asn) c.4091T>A (p.Ile1364Asn) c.4082T>A (p.Ile1361Asn) c.4073T>A (p.Ile1358Asn) c.2411T>A (p.Ile804Asn) | |
| X | g.108680945T>C | CA413851215 | COL4A5 | c.4076T>C (p.Ile1359Thr) c.4058T>C (p.Ile1353Thr) n.570T>C n.479T>C c.4067T>C (p.Ile1356Thr) c.3752T>C (p.Ile1251Thr) c.1649T>C (p.Ile550Thr) c.4091T>C (p.Ile1364Thr) c.4082T>C (p.Ile1361Thr) c.4073T>C (p.Ile1358Thr) c.2411T>C (p.Ile804Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680945T>G | CA413851217 | COL4A5 | c.4076T>G (p.Ile1359Ser) c.4058T>G (p.Ile1353Ser) n.570T>G n.479T>G c.4067T>G (p.Ile1356Ser) c.3752T>G (p.Ile1251Ser) c.1649T>G (p.Ile550Ser) c.4091T>G (p.Ile1364Ser) c.4082T>G (p.Ile1361Ser) c.4073T>G (p.Ile1358Ser) c.2411T>G (p.Ile804Ser) | |
| X | g.108680945T= | CA2450716916 | COL4A5 | c.4076T= (p.Ile1359=) c.4058T= (p.Ile1353=) n.570T= n.479T= c.4067T= (p.Ile1356=) c.3752T= (p.Ile1251=) c.1649T= (p.Ile550=) c.4091T= (p.Ile1364=) c.4082T= (p.Ile1361=) c.4073T= (p.Ile1358=) c.2411T= (p.Ile804=) | |
| X | g.108680946T>A | CA517923678 | COL4A5 | c.4077T>A (p.Ile1359=) c.4059T>A (p.Ile1353=) n.571T>A n.480T>A c.4068T>A (p.Ile1356=) c.3753T>A (p.Ile1251=) c.1650T>A (p.Ile550=) c.4092T>A (p.Ile1364=) c.4083T>A (p.Ile1361=) c.4074T>A (p.Ile1358=) c.2412T>A (p.Ile804=) | |
| X | g.108680946T>C | CA517923679 | COL4A5 | c.4077T>C (p.Ile1359=) c.4059T>C (p.Ile1353=) n.571T>C n.480T>C c.4068T>C (p.Ile1356=) c.3753T>C (p.Ile1251=) c.1650T>C (p.Ile550=) c.4092T>C (p.Ile1364=) c.4083T>C (p.Ile1361=) c.4074T>C (p.Ile1358=) c.2412T>C (p.Ile804=) | |
| X | g.108680946T>G | CA413851218 | COL4A5 | c.4077T>G (p.Ile1359Met) c.4059T>G (p.Ile1353Met) n.571T>G n.480T>G c.4068T>G (p.Ile1356Met) c.3753T>G (p.Ile1251Met) c.1650T>G (p.Ile550Met) c.4092T>G (p.Ile1364Met) c.4083T>G (p.Ile1361Met) c.4074T>G (p.Ile1358Met) c.2412T>G (p.Ile804Met) | |
| X | g.108680947G>A | CA413851219 | COL4A5 | c.4078G>A (p.Gly1360Ser) c.4060G>A (p.Gly1354Ser) n.572G>A n.481G>A c.4069G>A (p.Gly1357Ser) c.3754G>A (p.Gly1252Ser) c.1651G>A (p.Gly551Ser) c.4093G>A (p.Gly1365Ser) c.4084G>A (p.Gly1362Ser) c.4075G>A (p.Gly1359Ser) c.2413G>A (p.Gly805Ser) | |
| X | g.108680947G>C | CA413851220 | COL4A5 | c.4078G>C (p.Gly1360Arg) c.4060G>C (p.Gly1354Arg) n.572G>C n.481G>C c.4069G>C (p.Gly1357Arg) c.3754G>C (p.Gly1252Arg) c.1651G>C (p.Gly551Arg) c.4093G>C (p.Gly1365Arg) c.4084G>C (p.Gly1362Arg) c.4075G>C (p.Gly1359Arg) c.2413G>C (p.Gly805Arg) | |
| X | g.108680947G= | CA2450716917 | COL4A5 | c.4078G= (p.Gly1360=) c.4060G= (p.Gly1354=) n.572G= n.481G= c.4069G= (p.Gly1357=) c.3754G= (p.Gly1252=) c.1651G= (p.Gly551=) c.4093G= (p.Gly1365=) c.4084G= (p.Gly1362=) c.4075G= (p.Gly1359=) c.2413G= (p.Gly805=) | |
| X | g.108680947G>T | CA413851221 | COL4A5 | c.4078G>T (p.Gly1360Cys) c.4060G>T (p.Gly1354Cys) n.572G>T n.481G>T c.4069G>T (p.Gly1357Cys) c.3754G>T (p.Gly1252Cys) c.1651G>T (p.Gly551Cys) c.4093G>T (p.Gly1365Cys) c.4084G>T (p.Gly1362Cys) c.4075G>T (p.Gly1359Cys) c.2413G>T (p.Gly805Cys) | gnomAD v4 |
| X | g.108680948G>A | CA413851223 | COL4A5 | c.4079G>A (p.Gly1360Asp) c.4061G>A (p.Gly1354Asp) n.573G>A n.482G>A c.4070G>A (p.Gly1357Asp) c.3755G>A (p.Gly1252Asp) c.1652G>A (p.Gly551Asp) c.4094G>A (p.Gly1365Asp) c.4085G>A (p.Gly1362Asp) c.4076G>A (p.Gly1359Asp) c.2414G>A (p.Gly805Asp) | ClinVar dbSNP |
| X | g.108680948G>C | CA413851224 | COL4A5 | c.4079G>C (p.Gly1360Ala) c.4061G>C (p.Gly1354Ala) n.573G>C n.482G>C c.4070G>C (p.Gly1357Ala) c.3755G>C (p.Gly1252Ala) c.1652G>C (p.Gly551Ala) c.4094G>C (p.Gly1365Ala) c.4085G>C (p.Gly1362Ala) c.4076G>C (p.Gly1359Ala) c.2414G>C (p.Gly805Ala) | COSMIC |
| X | g.108680948G>T | CA413851225 | COL4A5 | c.4079G>T (p.Gly1360Val) c.4061G>T (p.Gly1354Val) n.573G>T n.482G>T c.4070G>T (p.Gly1357Val) c.3755G>T (p.Gly1252Val) c.1652G>T (p.Gly551Val) c.4094G>T (p.Gly1365Val) c.4085G>T (p.Gly1362Val) c.4076G>T (p.Gly1359Val) c.2414G>T (p.Gly805Val) | |
| X | g.108680949T>A | CA517923680 | COL4A5 | c.4080T>A (p.Gly1360=) c.4062T>A (p.Gly1354=) n.574T>A n.483T>A c.4071T>A (p.Gly1357=) c.3756T>A (p.Gly1252=) c.1653T>A (p.Gly551=) c.4095T>A (p.Gly1365=) c.4086T>A (p.Gly1362=) c.4077T>A (p.Gly1359=) c.2415T>A (p.Gly805=) | |
| X | g.108680949T>C | CA517923681 | COL4A5 | c.4080T>C (p.Gly1360=) c.4062T>C (p.Gly1354=) n.574T>C n.483T>C c.4071T>C (p.Gly1357=) c.3756T>C (p.Gly1252=) c.1653T>C (p.Gly551=) c.4095T>C (p.Gly1365=) c.4086T>C (p.Gly1362=) c.4077T>C (p.Gly1359=) c.2415T>C (p.Gly805=) | |
| X | g.108680949T>G | CA517923682 | COL4A5 | c.4080T>G (p.Gly1360=) c.4062T>G (p.Gly1354=) n.574T>G n.483T>G c.4071T>G (p.Gly1357=) c.3756T>G (p.Gly1252=) c.1653T>G (p.Gly551=) c.4095T>G (p.Gly1365=) c.4086T>G (p.Gly1362=) c.4077T>G (p.Gly1359=) c.2415T>G (p.Gly805=) | |
| X | g.108680950C>A | CA413851227 | COL4A5 | c.4081C>A (p.Pro1361Thr) c.4063C>A (p.Pro1355Thr) n.575C>A n.484C>A c.4072C>A (p.Pro1358Thr) c.3757C>A (p.Pro1253Thr) c.1654C>A (p.Pro552Thr) c.4096C>A (p.Pro1366Thr) c.4087C>A (p.Pro1363Thr) c.4078C>A (p.Pro1360Thr) c.2416C>A (p.Pro806Thr) | |
| X | g.108680950C>G | CA413851229 | COL4A5 | c.4081C>G (p.Pro1361Ala) c.4063C>G (p.Pro1355Ala) n.575C>G n.484C>G c.4072C>G (p.Pro1358Ala) c.3757C>G (p.Pro1253Ala) c.1654C>G (p.Pro552Ala) c.4096C>G (p.Pro1366Ala) c.4087C>G (p.Pro1363Ala) c.4078C>G (p.Pro1360Ala) c.2416C>G (p.Pro806Ala) | |
| X | g.108680950C>T | CA413851231 | COL4A5 | c.4081C>T (p.Pro1361Ser) c.4063C>T (p.Pro1355Ser) n.575C>T n.484C>T c.4072C>T (p.Pro1358Ser) c.3757C>T (p.Pro1253Ser) c.1654C>T (p.Pro552Ser) c.4096C>T (p.Pro1366Ser) c.4087C>T (p.Pro1363Ser) c.4078C>T (p.Pro1360Ser) c.2416C>T (p.Pro806Ser) | |
| X | g.108680951del | CA2695235672 | COL4A5 | c.4082del (p.Pro1361LeufsTer16) c.4064del (p.Pro1355LeufsTer16) n.576del n.485del c.4073del (p.Pro1358LeufsTer16) c.3758del (p.Pro1253LeufsTer16) c.1655del (p.Pro552LeufsTer16) c.4097del (p.Pro1366LeufsTer16) c.4088del (p.Pro1363LeufsTer16) c.4079del (p.Pro1360LeufsTer16) c.2417del (p.Pro806LeufsTer16) | |
| X | g.108680951C>A | CA413851238 | COL4A5 | c.4082C>A (p.Pro1361His) c.4064C>A (p.Pro1355His) n.576C>A n.485C>A c.4073C>A (p.Pro1358His) c.3758C>A (p.Pro1253His) c.1655C>A (p.Pro552His) c.4097C>A (p.Pro1366His) c.4088C>A (p.Pro1363His) c.4079C>A (p.Pro1360His) c.2417C>A (p.Pro806His) | |
| X | g.108680951C>G | CA413851234 | COL4A5 | c.4082C>G (p.Pro1361Arg) c.4064C>G (p.Pro1355Arg) n.576C>G n.485C>G c.4073C>G (p.Pro1358Arg) c.3758C>G (p.Pro1253Arg) c.1655C>G (p.Pro552Arg) c.4097C>G (p.Pro1366Arg) c.4088C>G (p.Pro1363Arg) c.4079C>G (p.Pro1360Arg) c.2417C>G (p.Pro806Arg) | |
| X | g.108680951C>T | CA413851236 | COL4A5 | c.4082C>T (p.Pro1361Leu) c.4064C>T (p.Pro1355Leu) n.576C>T n.485C>T c.4073C>T (p.Pro1358Leu) c.3758C>T (p.Pro1253Leu) c.1655C>T (p.Pro552Leu) c.4097C>T (p.Pro1366Leu) c.4088C>T (p.Pro1363Leu) c.4079C>T (p.Pro1360Leu) c.2417C>T (p.Pro806Leu) | gnomAD v4 |
| X | g.108680952T>A | CA517923683 | COL4A5 | c.4083T>A (p.Pro1361=) c.4065T>A (p.Pro1355=) n.577T>A n.486T>A c.4074T>A (p.Pro1358=) c.3759T>A (p.Pro1253=) c.1656T>A (p.Pro552=) c.4098T>A (p.Pro1366=) c.4089T>A (p.Pro1363=) c.4080T>A (p.Pro1360=) c.2418T>A (p.Pro806=) | |
| X | g.108680952T>C | CA517923684 | COL4A5 | c.4083T>C (p.Pro1361=) c.4065T>C (p.Pro1355=) n.577T>C n.486T>C c.4074T>C (p.Pro1358=) c.3759T>C (p.Pro1253=) c.1656T>C (p.Pro552=) c.4098T>C (p.Pro1366=) c.4089T>C (p.Pro1363=) c.4080T>C (p.Pro1360=) c.2418T>C (p.Pro806=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108680952T>G | CA517923685 | COL4A5 | c.4083T>G (p.Pro1361=) c.4065T>G (p.Pro1355=) n.577T>G n.486T>G c.4074T>G (p.Pro1358=) c.3759T>G (p.Pro1253=) c.1656T>G (p.Pro552=) c.4098T>G (p.Pro1366=) c.4089T>G (p.Pro1363=) c.4080T>G (p.Pro1360=) c.2418T>G (p.Pro806=) | |
| X | g.108680952T= | CA2450716918 | COL4A5 | c.4083T= (p.Pro1361=) c.4065T= (p.Pro1355=) n.577T= n.486T= c.4074T= (p.Pro1358=) c.3759T= (p.Pro1253=) c.1656T= (p.Pro552=) c.4098T= (p.Pro1366=) c.4089T= (p.Pro1363=) c.4080T= (p.Pro1360=) c.2418T= (p.Pro806=) | |
| X | g.108680953C>A | CA413851240 | COL4A5 | c.4084C>A (p.Pro1362Thr) c.4066C>A (p.Pro1356Thr) n.578C>A n.487C>A c.4075C>A (p.Pro1359Thr) c.3760C>A (p.Pro1254Thr) c.1657C>A (p.Pro553Thr) c.4099C>A (p.Pro1367Thr) c.4090C>A (p.Pro1364Thr) c.4081C>A (p.Pro1361Thr) c.2419C>A (p.Pro807Thr) | dbSNP |
| X | g.108680953C= | CA2450716919 | COL4A5 | c.4084C= (p.Pro1362=) c.4066C= (p.Pro1356=) n.578C= n.487C= c.4075C= (p.Pro1359=) c.3760C= (p.Pro1254=) c.1657C= (p.Pro553=) c.4099C= (p.Pro1367=) c.4090C= (p.Pro1364=) c.4081C= (p.Pro1361=) c.2419C= (p.Pro807=) | |
| X | g.108680953C>G | CA413851242 | COL4A5 | c.4084C>G (p.Pro1362Ala) c.4066C>G (p.Pro1356Ala) n.578C>G n.487C>G c.4075C>G (p.Pro1359Ala) c.3760C>G (p.Pro1254Ala) c.1657C>G (p.Pro553Ala) c.4099C>G (p.Pro1367Ala) c.4090C>G (p.Pro1364Ala) c.4081C>G (p.Pro1361Ala) c.2419C>G (p.Pro807Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108680953C>T | CA413851244 | COL4A5 | c.4084C>T (p.Pro1362Ser) c.4066C>T (p.Pro1356Ser) n.578C>T n.487C>T c.4075C>T (p.Pro1359Ser) c.3760C>T (p.Pro1254Ser) c.1657C>T (p.Pro553Ser) c.4099C>T (p.Pro1367Ser) c.4090C>T (p.Pro1364Ser) c.4081C>T (p.Pro1361Ser) c.2419C>T (p.Pro807Ser) | gnomAD v4 COSMIC COSMIC |
| X | g.108680954C>A | CA413851246 | COL4A5 | c.4085C>A (p.Pro1362Gln) c.4067C>A (p.Pro1356Gln) n.579C>A n.488C>A c.4076C>A (p.Pro1359Gln) c.3761C>A (p.Pro1254Gln) c.1658C>A (p.Pro553Gln) c.4100C>A (p.Pro1367Gln) c.4091C>A (p.Pro1364Gln) c.4082C>A (p.Pro1361Gln) c.2420C>A (p.Pro807Gln) | |
| X | g.108680954C>G | CA413851248 | COL4A5 | c.4085C>G (p.Pro1362Arg) c.4067C>G (p.Pro1356Arg) n.579C>G n.488C>G c.4076C>G (p.Pro1359Arg) c.3761C>G (p.Pro1254Arg) c.1658C>G (p.Pro553Arg) c.4100C>G (p.Pro1367Arg) c.4091C>G (p.Pro1364Arg) c.4082C>G (p.Pro1361Arg) c.2420C>G (p.Pro807Arg) | |
| X | g.108680954C>T | CA413851250 | COL4A5 | c.4085C>T (p.Pro1362Leu) c.4067C>T (p.Pro1356Leu) n.579C>T n.488C>T c.4076C>T (p.Pro1359Leu) c.3761C>T (p.Pro1254Leu) c.1658C>T (p.Pro553Leu) c.4100C>T (p.Pro1367Leu) c.4091C>T (p.Pro1364Leu) c.4082C>T (p.Pro1361Leu) c.2420C>T (p.Pro807Leu) | |
| X | g.108680955A= | CA2450716920 | COL4A5 | c.4086A= (p.Pro1362=) c.4068A= (p.Pro1356=) n.580A= n.489A= c.4077A= (p.Pro1359=) c.3762A= (p.Pro1254=) c.1659A= (p.Pro553=) c.4101A= (p.Pro1367=) c.4092A= (p.Pro1364=) c.4083A= (p.Pro1361=) c.2421A= (p.Pro807=) | |
| X | g.108680955A>C | CA517923686 | COL4A5 | c.4086A>C (p.Pro1362=) c.4068A>C (p.Pro1356=) n.580A>C n.489A>C c.4077A>C (p.Pro1359=) c.3762A>C (p.Pro1254=) c.1659A>C (p.Pro553=) c.4101A>C (p.Pro1367=) c.4092A>C (p.Pro1364=) c.4083A>C (p.Pro1361=) c.2421A>C (p.Pro807=) | |
| X | g.108680955A>G | CA517923688 | COL4A5 | c.4086A>G (p.Pro1362=) c.4068A>G (p.Pro1356=) n.580A>G n.489A>G c.4077A>G (p.Pro1359=) c.3762A>G (p.Pro1254=) c.1659A>G (p.Pro553=) c.4101A>G (p.Pro1367=) c.4092A>G (p.Pro1364=) c.4083A>G (p.Pro1361=) c.2421A>G (p.Pro807=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108680955A>T | CA517923687 | COL4A5 | c.4086A>T (p.Pro1362=) c.4068A>T (p.Pro1356=) n.580A>T n.489A>T c.4077A>T (p.Pro1359=) c.3762A>T (p.Pro1254=) c.1659A>T (p.Pro553=) c.4101A>T (p.Pro1367=) c.4092A>T (p.Pro1364=) c.4083A>T (p.Pro1361=) c.2421A>T (p.Pro807=) | ClinVar |
| X | g.108680956G>A | CA258981 | COL4A5 | c.4087G>A (p.Gly1363Ser) c.4069G>A (p.Gly1357Ser) n.581G>A n.490G>A c.4078G>A (p.Gly1360Ser) c.3763G>A (p.Gly1255Ser) c.1660G>A (p.Gly554Ser) c.4102G>A (p.Gly1368Ser) c.4093G>A (p.Gly1365Ser) c.4084G>A (p.Gly1362Ser) c.2422G>A (p.Gly808Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108680956G>C | CA413851253 | COL4A5 | c.4087G>C (p.Gly1363Arg) c.4069G>C (p.Gly1357Arg) n.581G>C n.490G>C c.4078G>C (p.Gly1360Arg) c.3763G>C (p.Gly1255Arg) c.1660G>C (p.Gly554Arg) c.4102G>C (p.Gly1368Arg) c.4093G>C (p.Gly1365Arg) c.4084G>C (p.Gly1362Arg) c.2422G>C (p.Gly808Arg) | |
| X | g.108680956G= | CA2450716921 | COL4A5 | c.4087G= (p.Gly1363=) c.4069G= (p.Gly1357=) n.581G= n.490G= c.4078G= (p.Gly1360=) c.3763G= (p.Gly1255=) c.1660G= (p.Gly554=) c.4102G= (p.Gly1368=) c.4093G= (p.Gly1365=) c.4084G= (p.Gly1362=) c.2422G= (p.Gly808=) | |
| X | g.108680956G>T | CA334054834 | COL4A5 | c.4087G>T (p.Gly1363Cys) c.4069G>T (p.Gly1357Cys) n.581G>T n.490G>T c.4078G>T (p.Gly1360Cys) c.3763G>T (p.Gly1255Cys) c.1660G>T (p.Gly554Cys) c.4102G>T (p.Gly1368Cys) c.4093G>T (p.Gly1365Cys) c.4084G>T (p.Gly1362Cys) c.2422G>T (p.Gly808Cys) | dbSNP |