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.108681714_108681725del | CA2694442854 | COL4A5 | c.4088-46_4088-35del (n.4088-46_4088-35del) c.4070-46_4070-35del (n.4070-46_4070-35del) n.582-46_582-35del n.491-46_491-35del c.4079-46_4079-35del (n.4079-46_4079-35del) c.3764-46_3764-35del (n.3764-46_3764-35del) c.1661-46_1661-35del (n.1661-46_1661-35del) c.4103-46_4103-35del (n.4103-46_4103-35del) c.4094-46_4094-35del (n.4094-46_4094-35del) c.4085-46_4085-35del (n.4085-46_4085-35del) c.2423-46_2423-35del (n.2423-46_2423-35del) | gnomAD v4 |
| X | g.108681720C>A | CA2450717196 | COL4A5 | c.4088-40C>A (n.4088-40C>A) c.4070-40C>A (n.4070-40C>A) n.582-40C>A n.491-40C>A c.4079-40C>A (n.4079-40C>A) c.3764-40C>A (n.3764-40C>A) c.1661-40C>A (n.1661-40C>A) c.4103-40C>A (n.4103-40C>A) c.4094-40C>A (n.4094-40C>A) c.4085-40C>A (n.4085-40C>A) c.2423-40C>A (n.2423-40C>A) | dbSNP |
| X | g.108681720C= | CA2450717195 | COL4A5 | c.4088-40C= (n.4088-40C=) c.4070-40C= (n.4070-40C=) n.582-40C= n.491-40C= c.4079-40C= (n.4079-40C=) c.3764-40C= (n.3764-40C=) c.1661-40C= (n.1661-40C=) c.4103-40C= (n.4103-40C=) c.4094-40C= (n.4094-40C=) c.4085-40C= (n.4085-40C=) c.2423-40C= (n.2423-40C=) | |
| X | g.108681721T>G | CA10489289 | COL4A5 | c.4088-39T>G (n.4088-39T>G) c.4070-39T>G (n.4070-39T>G) n.582-39T>G n.491-39T>G c.4079-39T>G (n.4079-39T>G) c.3764-39T>G (n.3764-39T>G) c.1661-39T>G (n.1661-39T>G) c.4103-39T>G (n.4103-39T>G) c.4094-39T>G (n.4094-39T>G) c.4085-39T>G (n.4085-39T>G) c.2423-39T>G (n.2423-39T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108681721T= | CA2450717197 | COL4A5 | c.4088-39T= (n.4088-39T=) c.4070-39T= (n.4070-39T=) n.582-39T= n.491-39T= c.4079-39T= (n.4079-39T=) c.3764-39T= (n.3764-39T=) c.1661-39T= (n.1661-39T=) c.4103-39T= (n.4103-39T=) c.4094-39T= (n.4094-39T=) c.4085-39T= (n.4085-39T=) c.2423-39T= (n.2423-39T=) | |
| X | g.108681725T>C | CA2450717199 | COL4A5 | c.4088-35T>C (n.4088-35T>C) c.4070-35T>C (n.4070-35T>C) n.582-35T>C n.491-35T>C c.4079-35T>C (n.4079-35T>C) c.3764-35T>C (n.3764-35T>C) c.1661-35T>C (n.1661-35T>C) c.4103-35T>C (n.4103-35T>C) c.4094-35T>C (n.4094-35T>C) c.4085-35T>C (n.4085-35T>C) c.2423-35T>C (n.2423-35T>C) | dbSNP |
| X | g.108681725T= | CA2450717198 | COL4A5 | c.4088-35T= (n.4088-35T=) c.4070-35T= (n.4070-35T=) n.582-35T= n.491-35T= c.4079-35T= (n.4079-35T=) c.3764-35T= (n.3764-35T=) c.1661-35T= (n.1661-35T=) c.4103-35T= (n.4103-35T=) c.4094-35T= (n.4094-35T=) c.4085-35T= (n.4085-35T=) c.2423-35T= (n.2423-35T=) | |
| X | g.108681726C>T | CA2694442858 | COL4A5 | c.4088-34C>T (n.4088-34C>T) c.4070-34C>T (n.4070-34C>T) n.582-34C>T n.491-34C>T c.4079-34C>T (n.4079-34C>T) c.3764-34C>T (n.3764-34C>T) c.1661-34C>T (n.1661-34C>T) c.4103-34C>T (n.4103-34C>T) c.4094-34C>T (n.4094-34C>T) c.4085-34C>T (n.4085-34C>T) c.2423-34C>T (n.2423-34C>T) | gnomAD v4 |
| X | g.108681729_108681734dup | CA2694442857 | COL4A5 | c.4088-31_4088-26dup (n.4088-31_4088-26dup) c.4070-31_4070-26dup (n.4070-31_4070-26dup) n.582-31_582-26dup n.491-31_491-26dup c.4079-31_4079-26dup (n.4079-31_4079-26dup) c.3764-31_3764-26dup (n.3764-31_3764-26dup) c.1661-31_1661-26dup (n.1661-31_1661-26dup) c.4103-31_4103-26dup (n.4103-31_4103-26dup) c.4094-31_4094-26dup (n.4094-31_4094-26dup) c.4085-31_4085-26dup (n.4085-31_4085-26dup) c.2423-31_2423-26dup (n.2423-31_2423-26dup) | gnomAD v4 |
| X | g.108681729del | CA2694442859 | COL4A5 | c.4088-31del (n.4088-31del) c.4070-31del (n.4070-31del) n.582-31del n.491-31del c.4079-31del (n.4079-31del) c.3764-31del (n.3764-31del) c.1661-31del (n.1661-31del) c.4103-31del (n.4103-31del) c.4094-31del (n.4094-31del) c.4085-31del (n.4085-31del) c.2423-31del (n.2423-31del) | gnomAD v4 |
| X | g.108681730C= | CA2450717200 | COL4A5 | c.4088-30C= (n.4088-30C=) c.4070-30C= (n.4070-30C=) n.582-30C= n.491-30C= c.4079-30C= (n.4079-30C=) c.3764-30C= (n.3764-30C=) c.1661-30C= (n.1661-30C=) c.4103-30C= (n.4103-30C=) c.4094-30C= (n.4094-30C=) c.4085-30C= (n.4085-30C=) c.2423-30C= (n.2423-30C=) | |
| X | g.108681730C>G | CA1136193320 | COL4A5 | c.4088-30C>G (n.4088-30C>G) c.4070-30C>G (n.4070-30C>G) n.582-30C>G n.491-30C>G c.4079-30C>G (n.4079-30C>G) c.3764-30C>G (n.3764-30C>G) c.1661-30C>G (n.1661-30C>G) c.4103-30C>G (n.4103-30C>G) c.4094-30C>G (n.4094-30C>G) c.4085-30C>G (n.4085-30C>G) c.2423-30C>G (n.2423-30C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108681730C>T | CA2579677101 | COL4A5 | c.4088-30C>T (n.4088-30C>T) c.4070-30C>T (n.4070-30C>T) n.582-30C>T n.491-30C>T c.4079-30C>T (n.4079-30C>T) c.3764-30C>T (n.3764-30C>T) c.1661-30C>T (n.1661-30C>T) c.4103-30C>T (n.4103-30C>T) c.4094-30C>T (n.4094-30C>T) c.4085-30C>T (n.4085-30C>T) c.2423-30C>T (n.2423-30C>T) | |
| X | g.108681731C= | CA2450717201 | COL4A5 | c.4088-29C= (n.4088-29C=) c.4070-29C= (n.4070-29C=) n.582-29C= n.491-29C= c.4079-29C= (n.4079-29C=) c.3764-29C= (n.3764-29C=) c.1661-29C= (n.1661-29C=) c.4103-29C= (n.4103-29C=) c.4094-29C= (n.4094-29C=) c.4085-29C= (n.4085-29C=) c.2423-29C= (n.2423-29C=) | |
| X | g.108681731C>T | CA10489290 | COL4A5 | c.4088-29C>T (n.4088-29C>T) c.4070-29C>T (n.4070-29C>T) n.582-29C>T n.491-29C>T c.4079-29C>T (n.4079-29C>T) c.3764-29C>T (n.3764-29C>T) c.1661-29C>T (n.1661-29C>T) c.4103-29C>T (n.4103-29C>T) c.4094-29C>T (n.4094-29C>T) c.4085-29C>T (n.4085-29C>T) c.2423-29C>T (n.2423-29C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681733T>A | CA2694442860 | COL4A5 | c.4088-27T>A (n.4088-27T>A) c.4070-27T>A (n.4070-27T>A) n.582-27T>A n.491-27T>A c.4079-27T>A (n.4079-27T>A) c.3764-27T>A (n.3764-27T>A) c.1661-27T>A (n.1661-27T>A) c.4103-27T>A (n.4103-27T>A) c.4094-27T>A (n.4094-27T>A) c.4085-27T>A (n.4085-27T>A) c.2423-27T>A (n.2423-27T>A) | gnomAD v4 |
| X | g.108681735_108681736delinsCA | CA2450717202 | COL4A5 | c.4088-25_4088-24delinsCA (n.4088-25_4088-24delinsCA) c.4070-25_4070-24delinsCA (n.4070-25_4070-24delinsCA) n.582-25_582-24delinsCA n.491-25_491-24delinsCA c.4079-25_4079-24delinsCA (n.4079-25_4079-24delinsCA) c.3764-25_3764-24delinsCA (n.3764-25_3764-24delinsCA) c.1661-25_1661-24delinsCA (n.1661-25_1661-24delinsCA) c.4103-25_4103-24delinsCA (n.4103-25_4103-24delinsCA) c.4094-25_4094-24delinsCA (n.4094-25_4094-24delinsCA) c.4085-25_4085-24delinsCA (n.4085-25_4085-24delinsCA) c.2423-25_2423-24delinsCA (n.2423-25_2423-24delinsCA) | |
| X | g.108681738del | CA2450717203 | COL4A5 | c.4088-22del (n.4088-22del) c.4070-22del (n.4070-22del) n.582-22del n.491-22del c.4079-22del (n.4079-22del) c.3764-22del (n.3764-22del) c.1661-22del (n.1661-22del) c.4103-22del (n.4103-22del) c.4094-22del (n.4094-22del) c.4085-22del (n.4085-22del) c.2423-22del (n.2423-22del) | dbSNP |
| X | g.108681737A= | CA2450717204 | COL4A5 | c.4088-23A= (n.4088-23A=) c.4070-23A= (n.4070-23A=) n.582-23A= n.491-23A= c.4079-23A= (n.4079-23A=) c.3764-23A= (n.3764-23A=) c.1661-23A= (n.1661-23A=) c.4103-23A= (n.4103-23A=) c.4094-23A= (n.4094-23A=) c.4085-23A= (n.4085-23A=) c.2423-23A= (n.2423-23A=) | |
| X | g.108681737A>C | CA2579677102 | COL4A5 | c.4088-23A>C (n.4088-23A>C) c.4070-23A>C (n.4070-23A>C) n.582-23A>C n.491-23A>C c.4079-23A>C (n.4079-23A>C) c.3764-23A>C (n.3764-23A>C) c.1661-23A>C (n.1661-23A>C) c.4103-23A>C (n.4103-23A>C) c.4094-23A>C (n.4094-23A>C) c.4085-23A>C (n.4085-23A>C) c.2423-23A>C (n.2423-23A>C) | |
| X | g.108681737A>G | CA334055286 | COL4A5 | c.4088-23A>G (n.4088-23A>G) c.4070-23A>G (n.4070-23A>G) n.582-23A>G n.491-23A>G c.4079-23A>G (n.4079-23A>G) c.3764-23A>G (n.3764-23A>G) c.1661-23A>G (n.1661-23A>G) c.4103-23A>G (n.4103-23A>G) c.4094-23A>G (n.4094-23A>G) c.4085-23A>G (n.4085-23A>G) c.2423-23A>G (n.2423-23A>G) | dbSNP |
| X | g.108681740_108681741del | CA2697544694 | COL4A5 | c.4088-20_4088-19del (n.4088-20_4088-19del) c.4070-20_4070-19del (n.4070-20_4070-19del) n.582-20_582-19del n.491-20_491-19del c.4079-20_4079-19del (n.4079-20_4079-19del) c.3764-20_3764-19del (n.3764-20_3764-19del) c.1661-20_1661-19del (n.1661-20_1661-19del) c.4103-20_4103-19del (n.4103-20_4103-19del) c.4094-20_4094-19del (n.4094-20_4094-19del) c.4085-20_4085-19del (n.4085-20_4085-19del) c.2423-20_2423-19del (n.2423-20_2423-19del) | ClinVar |
| X | g.108681740T>G | CA1139532323 | COL4A5 | c.4088-20T>G (n.4088-20T>G) c.4070-20T>G (n.4070-20T>G) n.582-20T>G n.491-20T>G c.4079-20T>G (n.4079-20T>G) c.3764-20T>G (n.3764-20T>G) c.1661-20T>G (n.1661-20T>G) c.4103-20T>G (n.4103-20T>G) c.4094-20T>G (n.4094-20T>G) c.4085-20T>G (n.4085-20T>G) c.2423-20T>G (n.2423-20T>G) | |
| X | g.108681740_108681742delinsTTG | CA2450717205 | COL4A5 | c.4088-20_4088-18delinsTTG (n.4088-20_4088-18delinsTTG) c.4070-20_4070-18delinsTTG (n.4070-20_4070-18delinsTTG) n.582-20_582-18delinsTTG n.491-20_491-18delinsTTG c.4079-20_4079-18delinsTTG (n.4079-20_4079-18delinsTTG) c.3764-20_3764-18delinsTTG (n.3764-20_3764-18delinsTTG) c.1661-20_1661-18delinsTTG (n.1661-20_1661-18delinsTTG) c.4103-20_4103-18delinsTTG (n.4103-20_4103-18delinsTTG) c.4094-20_4094-18delinsTTG (n.4094-20_4094-18delinsTTG) c.4085-20_4085-18delinsTTG (n.4085-20_4085-18delinsTTG) c.2423-20_2423-18delinsTTG (n.2423-20_2423-18delinsTTG) | |
| X | g.108681741T>C | CA2450717208 | COL4A5 | c.4088-19T>C (n.4088-19T>C) c.4070-19T>C (n.4070-19T>C) n.582-19T>C n.491-19T>C c.4079-19T>C (n.4079-19T>C) c.3764-19T>C (n.3764-19T>C) c.1661-19T>C (n.1661-19T>C) c.4103-19T>C (n.4103-19T>C) c.4094-19T>C (n.4094-19T>C) c.4085-19T>C (n.4085-19T>C) c.2423-19T>C (n.2423-19T>C) | dbSNP |
| X | g.108681741T= | CA2450717207 | COL4A5 | c.4088-19T= (n.4088-19T=) c.4070-19T= (n.4070-19T=) n.582-19T= n.491-19T= c.4079-19T= (n.4079-19T=) c.3764-19T= (n.3764-19T=) c.1661-19T= (n.1661-19T=) c.4103-19T= (n.4103-19T=) c.4094-19T= (n.4094-19T=) c.4085-19T= (n.4085-19T=) c.2423-19T= (n.2423-19T=) | |
| X | g.108681746_108681747del | CA2450717206 | COL4A5 | c.4088-14_4088-13del (n.4088-14_4088-13del) c.4070-14_4070-13del (n.4070-14_4070-13del) n.582-14_582-13del n.491-14_491-13del c.4079-14_4079-13del (n.4079-14_4079-13del) c.3764-14_3764-13del (n.3764-14_3764-13del) c.1661-14_1661-13del (n.1661-14_1661-13del) c.4103-14_4103-13del (n.4103-14_4103-13del) c.4094-14_4094-13del (n.4094-14_4094-13del) c.4085-14_4085-13del (n.4085-14_4085-13del) c.2423-14_2423-13del (n.2423-14_2423-13del) | dbSNP |
| X | g.108681742G>A | CA10489291 | COL4A5 | c.4088-18G>A (n.4088-18G>A) c.4070-18G>A (n.4070-18G>A) n.582-18G>A n.491-18G>A c.4079-18G>A (n.4079-18G>A) c.3764-18G>A (n.3764-18G>A) c.1661-18G>A (n.1661-18G>A) c.4103-18G>A (n.4103-18G>A) c.4094-18G>A (n.4094-18G>A) c.4085-18G>A (n.4085-18G>A) c.2423-18G>A (n.2423-18G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681742G= | CA2450717209 | COL4A5 | c.4088-18G= (n.4088-18G=) c.4070-18G= (n.4070-18G=) n.582-18G= n.491-18G= c.4079-18G= (n.4079-18G=) c.3764-18G= (n.3764-18G=) c.1661-18G= (n.1661-18G=) c.4103-18G= (n.4103-18G=) c.4094-18G= (n.4094-18G=) c.4085-18G= (n.4085-18G=) c.2423-18G= (n.2423-18G=) | |
| X | g.108681747T>A | CA2694442861 | COL4A5 | c.4088-13T>A (n.4088-13T>A) c.4070-13T>A (n.4070-13T>A) n.582-13T>A n.491-13T>A c.4079-13T>A (n.4079-13T>A) c.3764-13T>A (n.3764-13T>A) c.1661-13T>A (n.1661-13T>A) c.4103-13T>A (n.4103-13T>A) c.4094-13T>A (n.4094-13T>A) c.4085-13T>A (n.4085-13T>A) c.2423-13T>A (n.2423-13T>A) | gnomAD v4 |
| X | g.108681750T>G | CA2822902296 | COL4A5 | c.4088-10T>G (n.4088-10T>G) c.4070-10T>G (n.4070-10T>G) n.582-10T>G n.491-10T>G c.4079-10T>G (n.4079-10T>G) c.3764-10T>G (n.3764-10T>G) c.1661-10T>G (n.1661-10T>G) c.4103-10T>G (n.4103-10T>G) c.4094-10T>G (n.4094-10T>G) c.4085-10T>G (n.4085-10T>G) c.2423-10T>G (n.2423-10T>G) | |
| X | g.108681751G>A | CA915951308 | COL4A5 | c.4088-9G>A (n.4088-9G>A) c.4070-9G>A (n.4070-9G>A) n.582-9G>A n.491-9G>A c.4079-9G>A (n.4079-9G>A) c.3764-9G>A (n.3764-9G>A) c.1661-9G>A (n.1661-9G>A) c.4103-9G>A (n.4103-9G>A) c.4094-9G>A (n.4094-9G>A) c.4085-9G>A (n.4085-9G>A) c.2423-9G>A (n.2423-9G>A) | ClinVar dbSNP |
| X | g.108681751G= | CA2450717210 | COL4A5 | c.4088-9G= (n.4088-9G=) c.4070-9G= (n.4070-9G=) n.582-9G= n.491-9G= c.4079-9G= (n.4079-9G=) c.3764-9G= (n.3764-9G=) c.1661-9G= (n.1661-9G=) c.4103-9G= (n.4103-9G=) c.4094-9G= (n.4094-9G=) c.4085-9G= (n.4085-9G=) c.2423-9G= (n.2423-9G=) | |
| X | g.108681751G>T | CA2694442862 | COL4A5 | c.4088-9G>T (n.4088-9G>T) c.4070-9G>T (n.4070-9G>T) n.582-9G>T n.491-9G>T c.4079-9G>T (n.4079-9G>T) c.3764-9G>T (n.3764-9G>T) c.1661-9G>T (n.1661-9G>T) c.4103-9G>T (n.4103-9G>T) c.4094-9G>T (n.4094-9G>T) c.4085-9G>T (n.4085-9G>T) c.2423-9G>T (n.2423-9G>T) | gnomAD v4 |
| X | g.108681754_108681765del | CA2694442863 | COL4A5 | c.4088-6_4093del c.4070-6_4075del n.582-6_587del n.491-6_496del c.4079-6_4084del c.3764-6_3769del c.1661-6_1666del c.4103-6_4108del c.4094-6_4099del c.4085-6_4090del c.2423-6_2428del | gnomAD v4 |
| X | g.108681755C>G | CA2573159091 | COL4A5 | c.4088-5C>G (n.4088-5C>G) c.4070-5C>G (n.4070-5C>G) n.582-5C>G n.491-5C>G c.4079-5C>G (n.4079-5C>G) c.3764-5C>G (n.3764-5C>G) c.1661-5C>G (n.1661-5C>G) c.4103-5C>G (n.4103-5C>G) c.4094-5C>G (n.4094-5C>G) c.4085-5C>G (n.4085-5C>G) c.2423-5C>G (n.2423-5C>G) | ClinVar dbSNP |
| X | g.108681755C>T | CA2580100206 | COL4A5 | c.4088-5C>T (n.4088-5C>T) c.4070-5C>T (n.4070-5C>T) n.582-5C>T n.491-5C>T c.4079-5C>T (n.4079-5C>T) c.3764-5C>T (n.3764-5C>T) c.1661-5C>T (n.1661-5C>T) c.4103-5C>T (n.4103-5C>T) c.4094-5C>T (n.4094-5C>T) c.4085-5C>T (n.4085-5C>T) c.2423-5C>T (n.2423-5C>T) | ClinVar gnomAD v4 |
| X | g.108681756A= | CA2450717211 | COL4A5 | c.4088-4A= (n.4088-4A=) c.4070-4A= (n.4070-4A=) n.582-4A= n.491-4A= c.4079-4A= (n.4079-4A=) c.3764-4A= (n.3764-4A=) c.1661-4A= (n.1661-4A=) c.4103-4A= (n.4103-4A=) c.4094-4A= (n.4094-4A=) c.4085-4A= (n.4085-4A=) c.2423-4A= (n.2423-4A=) | |
| X | g.108681756A>C | CA2450717212 | COL4A5 | c.4088-4A>C (n.4088-4A>C) c.4070-4A>C (n.4070-4A>C) n.582-4A>C n.491-4A>C c.4079-4A>C (n.4079-4A>C) c.3764-4A>C (n.3764-4A>C) c.1661-4A>C (n.1661-4A>C) c.4103-4A>C (n.4103-4A>C) c.4094-4A>C (n.4094-4A>C) c.4085-4A>C (n.4085-4A>C) c.2423-4A>C (n.2423-4A>C) | ClinVar dbSNP |
| X | g.108681756A>G | CA869822895 | COL4A5 | c.4088-4A>G (n.4088-4A>G) c.4070-4A>G (n.4070-4A>G) n.582-4A>G n.491-4A>G c.4079-4A>G (n.4079-4A>G) c.3764-4A>G (n.3764-4A>G) c.1661-4A>G (n.1661-4A>G) c.4103-4A>G (n.4103-4A>G) c.4094-4A>G (n.4094-4A>G) c.4085-4A>G (n.4085-4A>G) c.2423-4A>G (n.2423-4A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108681757T>C | CA10489292 | COL4A5 | c.4088-3T>C (n.4088-3T>C) c.4070-3T>C (n.4070-3T>C) n.582-3T>C n.491-3T>C c.4079-3T>C (n.4079-3T>C) c.3764-3T>C (n.3764-3T>C) c.1661-3T>C (n.1661-3T>C) c.4103-3T>C (n.4103-3T>C) c.4094-3T>C (n.4094-3T>C) c.4085-3T>C (n.4085-3T>C) c.2423-3T>C (n.2423-3T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681757T>G | CA2573159092 | COL4A5 | c.4088-3T>G (n.4088-3T>G) c.4070-3T>G (n.4070-3T>G) n.582-3T>G n.491-3T>G c.4079-3T>G (n.4079-3T>G) c.3764-3T>G (n.3764-3T>G) c.1661-3T>G (n.1661-3T>G) c.4103-3T>G (n.4103-3T>G) c.4094-3T>G (n.4094-3T>G) c.4085-3T>G (n.4085-3T>G) c.2423-3T>G (n.2423-3T>G) | ClinVar dbSNP |
| X | g.108681757T= | CA2450717213 | COL4A5 | c.4088-3T= (n.4088-3T=) c.4070-3T= (n.4070-3T=) n.582-3T= n.491-3T= c.4079-3T= (n.4079-3T=) c.3764-3T= (n.3764-3T=) c.1661-3T= (n.1661-3T=) c.4103-3T= (n.4103-3T=) c.4094-3T= (n.4094-3T=) c.4085-3T= (n.4085-3T=) c.2423-3T= (n.2423-3T=) | |
| X | g.108681758A>C | CA413851850 | COL4A5 | c.4088-2A>C (n.4088-2A>C) c.4070-2A>C (n.4070-2A>C) n.582-2A>C n.491-2A>C c.4079-2A>C (n.4079-2A>C) c.3764-2A>C (n.3764-2A>C) c.1661-2A>C (n.1661-2A>C) c.4103-2A>C (n.4103-2A>C) c.4094-2A>C (n.4094-2A>C) c.4085-2A>C (n.4085-2A>C) c.2423-2A>C (n.2423-2A>C) | |
| X | g.108681758A>G | CA413851848 | COL4A5 | c.4088-2A>G (n.4088-2A>G) c.4070-2A>G (n.4070-2A>G) n.582-2A>G n.491-2A>G c.4079-2A>G (n.4079-2A>G) c.3764-2A>G (n.3764-2A>G) c.1661-2A>G (n.1661-2A>G) c.4103-2A>G (n.4103-2A>G) c.4094-2A>G (n.4094-2A>G) c.4085-2A>G (n.4085-2A>G) c.2423-2A>G (n.2423-2A>G) | ClinVar |
| X | g.108681758A>T | CA413851846 | COL4A5 | c.4088-2A>T (n.4088-2A>T) c.4070-2A>T (n.4070-2A>T) n.582-2A>T n.491-2A>T c.4079-2A>T (n.4079-2A>T) c.3764-2A>T (n.3764-2A>T) c.1661-2A>T (n.1661-2A>T) c.4103-2A>T (n.4103-2A>T) c.4094-2A>T (n.4094-2A>T) c.4085-2A>T (n.4085-2A>T) c.2423-2A>T (n.2423-2A>T) | |
| X | g.108681759G>A | CA413851852 | COL4A5 | c.4088-1G>A (n.4088-1G>A) c.4070-1G>A (n.4070-1G>A) n.582-1G>A n.491-1G>A c.4079-1G>A (n.4079-1G>A) c.3764-1G>A (n.3764-1G>A) c.1661-1G>A (n.1661-1G>A) c.4103-1G>A (n.4103-1G>A) c.4094-1G>A (n.4094-1G>A) c.4085-1G>A (n.4085-1G>A) c.2423-1G>A (n.2423-1G>A) | |
| X | g.108681759G>C | CA413851854 | COL4A5 | c.4088-1G>C (n.4088-1G>C) c.4070-1G>C (n.4070-1G>C) n.582-1G>C n.491-1G>C c.4079-1G>C (n.4079-1G>C) c.3764-1G>C (n.3764-1G>C) c.1661-1G>C (n.1661-1G>C) c.4103-1G>C (n.4103-1G>C) c.4094-1G>C (n.4094-1G>C) c.4085-1G>C (n.4085-1G>C) c.2423-1G>C (n.2423-1G>C) | |
| X | g.108681759G>T | CA413851855 | COL4A5 | c.4088-1G>T (n.4088-1G>T) c.4070-1G>T (n.4070-1G>T) n.582-1G>T n.491-1G>T c.4079-1G>T (n.4079-1G>T) c.3764-1G>T (n.3764-1G>T) c.1661-1G>T (n.1661-1G>T) c.4103-1G>T (n.4103-1G>T) c.4094-1G>T (n.4094-1G>T) c.4085-1G>T (n.4085-1G>T) c.2423-1G>T (n.2423-1G>T) | |
| X | g.108681760G>A | CA413851857 | COL4A5 | c.4088G>A (p.Gly1363Asp) c.4070G>A (p.Gly1357Asp) n.582G>A n.491G>A c.4079G>A (p.Gly1360Asp) c.3764G>A (p.Gly1255Asp) c.1661G>A (p.Gly554Asp) c.4103G>A (p.Gly1368Asp) c.4094G>A (p.Gly1365Asp) c.4085G>A (p.Gly1362Asp) c.2423G>A (p.Gly808Asp) | |
| X | g.108681760G>C | CA413851860 | COL4A5 | c.4088G>C (p.Gly1363Ala) c.4070G>C (p.Gly1357Ala) n.582G>C n.491G>C c.4079G>C (p.Gly1360Ala) c.3764G>C (p.Gly1255Ala) c.1661G>C (p.Gly554Ala) c.4103G>C (p.Gly1368Ala) c.4094G>C (p.Gly1365Ala) c.4085G>C (p.Gly1362Ala) c.2423G>C (p.Gly808Ala) | ClinVar dbSNP |
| X | g.108681760G>T | CA413851861 | COL4A5 | c.4088G>T (p.Gly1363Val) c.4070G>T (p.Gly1357Val) n.582G>T n.491G>T c.4079G>T (p.Gly1360Val) c.3764G>T (p.Gly1255Val) c.1661G>T (p.Gly554Val) c.4103G>T (p.Gly1368Val) c.4094G>T (p.Gly1365Val) c.4085G>T (p.Gly1362Val) c.2423G>T (p.Gly808Val) | |
| X | g.108681760_108681761delinsGT | CA2450717214 | COL4A5 | c.4088_4089delinsGT (p.Gly1363=) c.4070_4071delinsGT (p.Gly1357=) n.582_583delinsGT n.491_492delinsGT c.4079_4080delinsGT (p.Gly1360=) c.3764_3765delinsGT (p.Gly1255=) c.1661_1662delinsGT (p.Gly554=) c.4103_4104delinsGT (p.Gly1368=) c.4094_4095delinsGT (p.Gly1365=) c.4085_4086delinsGT (p.Gly1362=) c.2423_2424delinsGT (p.Gly808=) | |
| X | g.108681761del | CA258985 | COL4A5 | c.4089del (p.Pro1364LeufsTer13) c.4071del (p.Pro1358LeufsTer13) n.583del n.492del c.4080del (p.Pro1361LeufsTer13) c.3765del (p.Pro1256LeufsTer13) c.1662del (p.Pro555LeufsTer13) c.4104del (p.Pro1369LeufsTer13) c.4095del (p.Pro1366LeufsTer13) c.4086del (p.Pro1363LeufsTer13) c.2424del (p.Pro809LeufsTer13) | dbSNP |
| X | g.108681761T>A | CA334055310 | COL4A5 | c.4089T>A (p.Gly1363=) c.4071T>A (p.Gly1357=) n.583T>A n.492T>A c.4080T>A (p.Gly1360=) c.3765T>A (p.Gly1255=) c.1662T>A (p.Gly554=) c.4104T>A (p.Gly1368=) c.4095T>A (p.Gly1365=) c.4086T>A (p.Gly1362=) c.2424T>A (p.Gly808=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108681761T>C | CA517923786 | COL4A5 | c.4089T>C (p.Gly1363=) c.4071T>C (p.Gly1357=) n.583T>C n.492T>C c.4080T>C (p.Gly1360=) c.3765T>C (p.Gly1255=) c.1662T>C (p.Gly554=) c.4104T>C (p.Gly1368=) c.4095T>C (p.Gly1365=) c.4086T>C (p.Gly1362=) c.2424T>C (p.Gly808=) | ClinVar dbSNP |
| X | g.108681761T>G | CA517923785 | COL4A5 | c.4089T>G (p.Gly1363=) c.4071T>G (p.Gly1357=) n.583T>G n.492T>G c.4080T>G (p.Gly1360=) c.3765T>G (p.Gly1255=) c.1662T>G (p.Gly554=) c.4104T>G (p.Gly1368=) c.4095T>G (p.Gly1365=) c.4086T>G (p.Gly1362=) c.2424T>G (p.Gly808=) | ClinVar dbSNP |
| X | g.108681761T= | CA2450717215 | COL4A5 | c.4089T= (p.Gly1363=) c.4071T= (p.Gly1357=) n.583T= n.492T= c.4080T= (p.Gly1360=) c.3765T= (p.Gly1255=) c.1662T= (p.Gly554=) c.4104T= (p.Gly1368=) c.4095T= (p.Gly1365=) c.4086T= (p.Gly1362=) c.2424T= (p.Gly808=) | |
| X | g.108681762C>A | CA413851864 | COL4A5 | c.4090C>A (p.Pro1364Thr) c.4072C>A (p.Pro1358Thr) n.584C>A n.493C>A c.4081C>A (p.Pro1361Thr) c.3766C>A (p.Pro1256Thr) c.1663C>A (p.Pro555Thr) c.4105C>A (p.Pro1369Thr) c.4096C>A (p.Pro1366Thr) c.4087C>A (p.Pro1363Thr) c.2425C>A (p.Pro809Thr) | |
| X | g.108681762C>G | CA413851866 | COL4A5 | c.4090C>G (p.Pro1364Ala) c.4072C>G (p.Pro1358Ala) n.584C>G n.493C>G c.4081C>G (p.Pro1361Ala) c.3766C>G (p.Pro1256Ala) c.1663C>G (p.Pro555Ala) c.4105C>G (p.Pro1369Ala) c.4096C>G (p.Pro1366Ala) c.4087C>G (p.Pro1363Ala) c.2425C>G (p.Pro809Ala) | |
| X | g.108681762C>T | CA413851867 | COL4A5 | c.4090C>T (p.Pro1364Ser) c.4072C>T (p.Pro1358Ser) n.584C>T n.493C>T c.4081C>T (p.Pro1361Ser) c.3766C>T (p.Pro1256Ser) c.1663C>T (p.Pro555Ser) c.4105C>T (p.Pro1369Ser) c.4096C>T (p.Pro1366Ser) c.4087C>T (p.Pro1363Ser) c.2425C>T (p.Pro809Ser) | |
| X | g.108681763C>A | CA413851870 | COL4A5 | c.4091C>A (p.Pro1364His) c.4073C>A (p.Pro1358His) n.585C>A n.494C>A c.4082C>A (p.Pro1361His) c.3767C>A (p.Pro1256His) c.1664C>A (p.Pro555His) c.4106C>A (p.Pro1369His) c.4097C>A (p.Pro1366His) c.4088C>A (p.Pro1363His) c.2426C>A (p.Pro809His) | |
| X | g.108681763C= | CA2450717216 | COL4A5 | c.4091C= (p.Pro1364=) c.4073C= (p.Pro1358=) n.585C= n.494C= c.4082C= (p.Pro1361=) c.3767C= (p.Pro1256=) c.1664C= (p.Pro555=) c.4106C= (p.Pro1369=) c.4097C= (p.Pro1366=) c.4088C= (p.Pro1363=) c.2426C= (p.Pro809=) | |
| X | g.108681763C>G | CA413851872 | COL4A5 | c.4091C>G (p.Pro1364Arg) c.4073C>G (p.Pro1358Arg) n.585C>G n.494C>G c.4082C>G (p.Pro1361Arg) c.3767C>G (p.Pro1256Arg) c.1664C>G (p.Pro555Arg) c.4106C>G (p.Pro1369Arg) c.4097C>G (p.Pro1366Arg) c.4088C>G (p.Pro1363Arg) c.2426C>G (p.Pro809Arg) | |
| X | g.108681763C>T | CA413851874 | COL4A5 | c.4091C>T (p.Pro1364Leu) c.4073C>T (p.Pro1358Leu) n.585C>T n.494C>T c.4082C>T (p.Pro1361Leu) c.3767C>T (p.Pro1256Leu) c.1664C>T (p.Pro555Leu) c.4106C>T (p.Pro1369Leu) c.4097C>T (p.Pro1366Leu) c.4088C>T (p.Pro1363Leu) c.2426C>T (p.Pro809Leu) | dbSNP |
| X | g.108681764T>A | CA517923787 | COL4A5 | c.4092T>A (p.Pro1364=) c.4074T>A (p.Pro1358=) n.586T>A n.495T>A c.4083T>A (p.Pro1361=) c.3768T>A (p.Pro1256=) c.1665T>A (p.Pro555=) c.4107T>A (p.Pro1369=) c.4098T>A (p.Pro1366=) c.4089T>A (p.Pro1363=) c.2427T>A (p.Pro809=) | |
| X | g.108681764T>C | CA517923788 | COL4A5 | c.4092T>C (p.Pro1364=) c.4074T>C (p.Pro1358=) n.586T>C n.495T>C c.4083T>C (p.Pro1361=) c.3768T>C (p.Pro1256=) c.1665T>C (p.Pro555=) c.4107T>C (p.Pro1369=) c.4098T>C (p.Pro1366=) c.4089T>C (p.Pro1363=) c.2427T>C (p.Pro809=) | ClinVar |
| X | g.108681764T>G | CA517923789 | COL4A5 | c.4092T>G (p.Pro1364=) c.4074T>G (p.Pro1358=) n.586T>G n.495T>G c.4083T>G (p.Pro1361=) c.3768T>G (p.Pro1256=) c.1665T>G (p.Pro555=) c.4107T>G (p.Pro1369=) c.4098T>G (p.Pro1366=) c.4089T>G (p.Pro1363=) c.2427T>G (p.Pro809=) | |
| X | g.108681765C>A | CA413851878 | COL4A5 | c.4093C>A (p.Pro1365Thr) c.4075C>A (p.Pro1359Thr) n.587C>A n.496C>A c.4084C>A (p.Pro1362Thr) c.3769C>A (p.Pro1257Thr) c.1666C>A (p.Pro556Thr) c.4108C>A (p.Pro1370Thr) c.4099C>A (p.Pro1367Thr) c.4090C>A (p.Pro1364Thr) c.2428C>A (p.Pro810Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108681765C= | CA2450717217 | COL4A5 | c.4093C= (p.Pro1365=) c.4075C= (p.Pro1359=) n.587C= n.496C= c.4084C= (p.Pro1362=) c.3769C= (p.Pro1257=) c.1666C= (p.Pro556=) c.4108C= (p.Pro1370=) c.4099C= (p.Pro1367=) c.4090C= (p.Pro1364=) c.2428C= (p.Pro810=) | |
| X | g.108681765C>G | CA413851876 | COL4A5 | c.4093C>G (p.Pro1365Ala) c.4075C>G (p.Pro1359Ala) n.587C>G n.496C>G c.4084C>G (p.Pro1362Ala) c.3769C>G (p.Pro1257Ala) c.1666C>G (p.Pro556Ala) c.4108C>G (p.Pro1370Ala) c.4099C>G (p.Pro1367Ala) c.4090C>G (p.Pro1364Ala) c.2428C>G (p.Pro810Ala) | gnomAD v4 |
| X | g.108681765C>T | CA413851877 | COL4A5 | c.4093C>T (p.Pro1365Ser) c.4075C>T (p.Pro1359Ser) n.587C>T n.496C>T c.4084C>T (p.Pro1362Ser) c.3769C>T (p.Pro1257Ser) c.1666C>T (p.Pro556Ser) c.4108C>T (p.Pro1370Ser) c.4099C>T (p.Pro1367Ser) c.4090C>T (p.Pro1364Ser) c.2428C>T (p.Pro810Ser) | COSMIC COSMIC |
| X | g.108681766C>A | CA413851881 | COL4A5 | c.4094C>A (p.Pro1365His) c.4076C>A (p.Pro1359His) n.588C>A n.497C>A c.4085C>A (p.Pro1362His) c.3770C>A (p.Pro1257His) c.1667C>A (p.Pro556His) c.4109C>A (p.Pro1370His) c.4100C>A (p.Pro1367His) c.4091C>A (p.Pro1364His) c.2429C>A (p.Pro810His) | |
| X | g.108681766C>G | CA413851887 | COL4A5 | c.4094C>G (p.Pro1365Arg) c.4076C>G (p.Pro1359Arg) n.588C>G n.497C>G c.4085C>G (p.Pro1362Arg) c.3770C>G (p.Pro1257Arg) c.1667C>G (p.Pro556Arg) c.4109C>G (p.Pro1370Arg) c.4100C>G (p.Pro1367Arg) c.4091C>G (p.Pro1364Arg) c.2429C>G (p.Pro810Arg) | |
| X | g.108681766C>T | CA413851889 | COL4A5 | c.4094C>T (p.Pro1365Leu) c.4076C>T (p.Pro1359Leu) n.588C>T n.497C>T c.4085C>T (p.Pro1362Leu) c.3770C>T (p.Pro1257Leu) c.1667C>T (p.Pro556Leu) c.4109C>T (p.Pro1370Leu) c.4100C>T (p.Pro1367Leu) c.4091C>T (p.Pro1364Leu) c.2429C>T (p.Pro810Leu) | ClinVar |
| X | g.108681767T>A | CA517923790 | COL4A5 | c.4095T>A (p.Pro1365=) c.4077T>A (p.Pro1359=) n.589T>A n.498T>A c.4086T>A (p.Pro1362=) c.3771T>A (p.Pro1257=) c.1668T>A (p.Pro556=) c.4110T>A (p.Pro1370=) c.4101T>A (p.Pro1367=) c.4092T>A (p.Pro1364=) c.2430T>A (p.Pro810=) | |
| X | g.108681767T>C | CA517923791 | COL4A5 | c.4095T>C (p.Pro1365=) c.4077T>C (p.Pro1359=) n.589T>C n.498T>C c.4086T>C (p.Pro1362=) c.3771T>C (p.Pro1257=) c.1668T>C (p.Pro556=) c.4110T>C (p.Pro1370=) c.4101T>C (p.Pro1367=) c.4092T>C (p.Pro1364=) c.2430T>C (p.Pro810=) | |
| X | g.108681767T>G | CA517923792 | COL4A5 | c.4095T>G (p.Pro1365=) c.4077T>G (p.Pro1359=) n.589T>G n.498T>G c.4086T>G (p.Pro1362=) c.3771T>G (p.Pro1257=) c.1668T>G (p.Pro556=) c.4110T>G (p.Pro1370=) c.4101T>G (p.Pro1367=) c.4092T>G (p.Pro1364=) c.2430T>G (p.Pro810=) | |
| X | g.108681768G>A | CA413851891 | COL4A5 | c.4096G>A (p.Gly1366Arg) c.4078G>A (p.Gly1360Arg) n.590G>A n.499G>A c.4087G>A (p.Gly1363Arg) c.3772G>A (p.Gly1258Arg) c.1669G>A (p.Gly557Arg) c.4111G>A (p.Gly1371Arg) c.4102G>A (p.Gly1368Arg) c.4093G>A (p.Gly1365Arg) c.2431G>A (p.Gly811Arg) | |
| X | g.108681768G>C | CA413851893 | COL4A5 | c.4096G>C (p.Gly1366Arg) c.4078G>C (p.Gly1360Arg) n.590G>C n.499G>C c.4087G>C (p.Gly1363Arg) c.3772G>C (p.Gly1258Arg) c.1669G>C (p.Gly557Arg) c.4111G>C (p.Gly1371Arg) c.4102G>C (p.Gly1368Arg) c.4093G>C (p.Gly1365Arg) c.2431G>C (p.Gly811Arg) | |
| X | g.108681768G>T | CA413851895 | COL4A5 | c.4096G>T (p.Gly1366Ter) c.4078G>T (p.Gly1360Ter) n.590G>T n.499G>T c.4087G>T (p.Gly1363Ter) c.3772G>T (p.Gly1258Ter) c.1669G>T (p.Gly557Ter) c.4111G>T (p.Gly1371Ter) c.4102G>T (p.Gly1368Ter) c.4093G>T (p.Gly1365Ter) c.2431G>T (p.Gly811Ter) | |
| X | g.108681769G>A | CA413851896 | COL4A5 | c.4097G>A (p.Gly1366Glu) c.4079G>A (p.Gly1360Glu) n.591G>A n.500G>A c.4088G>A (p.Gly1363Glu) c.3773G>A (p.Gly1258Glu) c.1670G>A (p.Gly557Glu) c.4112G>A (p.Gly1371Glu) c.4103G>A (p.Gly1368Glu) c.4094G>A (p.Gly1365Glu) c.2432G>A (p.Gly811Glu) | gnomAD v4 |
| X | g.108681769G>C | CA413851898 | COL4A5 | c.4097G>C (p.Gly1366Ala) c.4079G>C (p.Gly1360Ala) n.591G>C n.500G>C c.4088G>C (p.Gly1363Ala) c.3773G>C (p.Gly1258Ala) c.1670G>C (p.Gly557Ala) c.4112G>C (p.Gly1371Ala) c.4103G>C (p.Gly1368Ala) c.4094G>C (p.Gly1365Ala) c.2432G>C (p.Gly811Ala) | |
| X | g.108681769G>T | CA413851900 | COL4A5 | c.4097G>T (p.Gly1366Val) c.4079G>T (p.Gly1360Val) n.591G>T n.500G>T c.4088G>T (p.Gly1363Val) c.3773G>T (p.Gly1258Val) c.1670G>T (p.Gly557Val) c.4112G>T (p.Gly1371Val) c.4103G>T (p.Gly1368Val) c.4094G>T (p.Gly1365Val) c.2432G>T (p.Gly811Val) | |
| X | g.108681769_108681770delinsTC | CA2580100211 | COL4A5 | c.4097_4098delinsTC (p.Gly1366Val) c.4079_4080delinsTC (p.Gly1360Val) n.591_592delinsTC n.500_501delinsTC c.4088_4089delinsTC (p.Gly1363Val) c.3773_3774delinsTC (p.Gly1258Val) c.1670_1671delinsTC (p.Gly557Val) c.4112_4113delinsTC (p.Gly1371Val) c.4103_4104delinsTC (p.Gly1368Val) c.4094_4095delinsTC (p.Gly1365Val) c.2432_2433delinsTC (p.Gly811Val) | ClinVar |
| X | g.108681770A= | CA2450717218 | COL4A5 | c.4098A= (p.Gly1366=) c.4080A= (p.Gly1360=) n.592A= n.501A= c.4089A= (p.Gly1363=) c.3774A= (p.Gly1258=) c.1671A= (p.Gly557=) c.4113A= (p.Gly1371=) c.4104A= (p.Gly1368=) c.4095A= (p.Gly1365=) c.2433A= (p.Gly811=) | |
| X | g.108681770A>C | CA517923793 | COL4A5 | c.4098A>C (p.Gly1366=) c.4080A>C (p.Gly1360=) n.592A>C n.501A>C c.4089A>C (p.Gly1363=) c.3774A>C (p.Gly1258=) c.1671A>C (p.Gly557=) c.4113A>C (p.Gly1371=) c.4104A>C (p.Gly1368=) c.4095A>C (p.Gly1365=) c.2433A>C (p.Gly811=) | |
| X | g.108681770A>G | CA517923794 | COL4A5 | c.4098A>G (p.Gly1366=) c.4080A>G (p.Gly1360=) n.592A>G n.501A>G c.4089A>G (p.Gly1363=) c.3774A>G (p.Gly1258=) c.1671A>G (p.Gly557=) c.4113A>G (p.Gly1371=) c.4104A>G (p.Gly1368=) c.4095A>G (p.Gly1365=) c.2433A>G (p.Gly811=) | dbSNP |
| X | g.108681770A>T | CA517923795 | COL4A5 | c.4098A>T (p.Gly1366=) c.4080A>T (p.Gly1360=) n.592A>T n.501A>T c.4089A>T (p.Gly1363=) c.3774A>T (p.Gly1258=) c.1671A>T (p.Gly557=) c.4113A>T (p.Gly1371=) c.4104A>T (p.Gly1368=) c.4095A>T (p.Gly1365=) c.2433A>T (p.Gly811=) | |
| X | g.108681771T>A | CA413851902 | COL4A5 | c.4099T>A (p.Leu1367Ile) c.4081T>A (p.Leu1361Ile) n.593T>A n.502T>A c.4090T>A (p.Leu1364Ile) c.3775T>A (p.Leu1259Ile) c.1672T>A (p.Leu558Ile) c.4114T>A (p.Leu1372Ile) c.4105T>A (p.Leu1369Ile) c.4096T>A (p.Leu1366Ile) c.2434T>A (p.Leu812Ile) | |
| X | g.108681771T>C | CA517923796 | COL4A5 | c.4099T>C (p.Leu1367=) c.4081T>C (p.Leu1361=) n.593T>C n.502T>C c.4090T>C (p.Leu1364=) c.3775T>C (p.Leu1259=) c.1672T>C (p.Leu558=) c.4114T>C (p.Leu1372=) c.4105T>C (p.Leu1369=) c.4096T>C (p.Leu1366=) c.2434T>C (p.Leu812=) | |
| X | g.108681771T>G | CA413851904 | COL4A5 | c.4099T>G (p.Leu1367Val) c.4081T>G (p.Leu1361Val) n.593T>G n.502T>G c.4090T>G (p.Leu1364Val) c.3775T>G (p.Leu1259Val) c.1672T>G (p.Leu558Val) c.4114T>G (p.Leu1372Val) c.4105T>G (p.Leu1369Val) c.4096T>G (p.Leu1366Val) c.2434T>G (p.Leu812Val) | |
| X | g.108681772T>A | CA413851909 | COL4A5 | c.4100T>A (p.Leu1367Ter) c.4082T>A (p.Leu1361Ter) n.594T>A n.503T>A c.4091T>A (p.Leu1364Ter) c.3776T>A (p.Leu1259Ter) c.1673T>A (p.Leu558Ter) c.4115T>A (p.Leu1372Ter) c.4106T>A (p.Leu1369Ter) c.4097T>A (p.Leu1366Ter) c.2435T>A (p.Leu812Ter) | |
| X | g.108681772T>C | CA413851906 | COL4A5 | c.4100T>C (p.Leu1367Ser) c.4082T>C (p.Leu1361Ser) n.594T>C n.503T>C c.4091T>C (p.Leu1364Ser) c.3776T>C (p.Leu1259Ser) c.1673T>C (p.Leu558Ser) c.4115T>C (p.Leu1372Ser) c.4106T>C (p.Leu1369Ser) c.4097T>C (p.Leu1366Ser) c.2435T>C (p.Leu812Ser) | |
| X | g.108681772T>G | CA413851908 | COL4A5 | c.4100T>G (p.Leu1367Ter) c.4082T>G (p.Leu1361Ter) n.594T>G n.503T>G c.4091T>G (p.Leu1364Ter) c.3776T>G (p.Leu1259Ter) c.1673T>G (p.Leu558Ter) c.4115T>G (p.Leu1372Ter) c.4106T>G (p.Leu1369Ter) c.4097T>G (p.Leu1366Ter) c.2435T>G (p.Leu812Ter) | |
| X | g.108681773A= | CA2450717219 | COL4A5 | c.4101A= (p.Leu1367=) c.4083A= (p.Leu1361=) n.595A= n.504A= c.4092A= (p.Leu1364=) c.3777A= (p.Leu1259=) c.1674A= (p.Leu558=) c.4116A= (p.Leu1372=) c.4107A= (p.Leu1369=) c.4098A= (p.Leu1366=) c.2436A= (p.Leu812=) | |
| X | g.108681773A>C | CA413851912 | COL4A5 | c.4101A>C (p.Leu1367Phe) c.4083A>C (p.Leu1361Phe) n.595A>C n.504A>C c.4092A>C (p.Leu1364Phe) c.3777A>C (p.Leu1259Phe) c.1674A>C (p.Leu558Phe) c.4116A>C (p.Leu1372Phe) c.4107A>C (p.Leu1369Phe) c.4098A>C (p.Leu1366Phe) c.2436A>C (p.Leu812Phe) | |
| X | g.108681773A>G | CA517923797 | COL4A5 | c.4101A>G (p.Leu1367=) c.4083A>G (p.Leu1361=) n.595A>G n.504A>G c.4092A>G (p.Leu1364=) c.3777A>G (p.Leu1259=) c.1674A>G (p.Leu558=) c.4116A>G (p.Leu1372=) c.4107A>G (p.Leu1369=) c.4098A>G (p.Leu1366=) c.2436A>G (p.Leu812=) | dbSNP gnomAD v4 |
| X | g.108681773A>T | CA413851914 | COL4A5 | c.4101A>T (p.Leu1367Phe) c.4083A>T (p.Leu1361Phe) n.595A>T n.504A>T c.4092A>T (p.Leu1364Phe) c.3777A>T (p.Leu1259Phe) c.1674A>T (p.Leu558Phe) c.4116A>T (p.Leu1372Phe) c.4107A>T (p.Leu1369Phe) c.4098A>T (p.Leu1366Phe) c.2436A>T (p.Leu812Phe) | |
| X | g.108681774C>A | CA413851917 | COL4A5 | c.4102C>A (p.Pro1368Thr) c.4084C>A (p.Pro1362Thr) n.596C>A n.505C>A c.4093C>A (p.Pro1365Thr) c.3778C>A (p.Pro1260Thr) c.1675C>A (p.Pro559Thr) c.4117C>A (p.Pro1373Thr) c.4108C>A (p.Pro1370Thr) c.4099C>A (p.Pro1367Thr) c.2437C>A (p.Pro813Thr) | |
| X | g.108681774C>G | CA413851919 | COL4A5 | c.4102C>G (p.Pro1368Ala) c.4084C>G (p.Pro1362Ala) n.596C>G n.505C>G c.4093C>G (p.Pro1365Ala) c.3778C>G (p.Pro1260Ala) c.1675C>G (p.Pro559Ala) c.4117C>G (p.Pro1373Ala) c.4108C>G (p.Pro1370Ala) c.4099C>G (p.Pro1367Ala) c.2437C>G (p.Pro813Ala) | |
| X | g.108681774C>T | CA413851921 | COL4A5 | c.4102C>T (p.Pro1368Ser) c.4084C>T (p.Pro1362Ser) n.596C>T n.505C>T c.4093C>T (p.Pro1365Ser) c.3778C>T (p.Pro1260Ser) c.1675C>T (p.Pro559Ser) c.4117C>T (p.Pro1373Ser) c.4108C>T (p.Pro1370Ser) c.4099C>T (p.Pro1367Ser) c.2437C>T (p.Pro813Ser) | |
| X | g.108681774_108681775insT | CA2694442864 | COL4A5 | c.4102_4103insT (p.Pro1368LeufsTer11) c.4084_4085insT (p.Pro1362LeufsTer11) n.596_597insT n.505_506insT c.4093_4094insT (p.Pro1365LeufsTer11) c.3778_3779insT (p.Pro1260LeufsTer11) c.1675_1676insT (p.Pro559LeufsTer11) c.4117_4118insT (p.Pro1373LeufsTer11) c.4108_4109insT (p.Pro1370LeufsTer11) c.4099_4100insT (p.Pro1367LeufsTer11) c.2437_2438insT (p.Pro813LeufsTer11) | gnomAD v4 |
| X | g.108681775C>A | CA413851922 | COL4A5 | c.4103C>A (p.Pro1368His) c.4085C>A (p.Pro1362His) n.597C>A n.506C>A c.4094C>A (p.Pro1365His) c.3779C>A (p.Pro1260His) c.1676C>A (p.Pro559His) c.4118C>A (p.Pro1373His) c.4109C>A (p.Pro1370His) c.4100C>A (p.Pro1367His) c.2438C>A (p.Pro813His) | |
| X | g.108681775C>G | CA413851923 | COL4A5 | c.4103C>G (p.Pro1368Arg) c.4085C>G (p.Pro1362Arg) n.597C>G n.506C>G c.4094C>G (p.Pro1365Arg) c.3779C>G (p.Pro1260Arg) c.1676C>G (p.Pro559Arg) c.4118C>G (p.Pro1373Arg) c.4109C>G (p.Pro1370Arg) c.4100C>G (p.Pro1367Arg) c.2438C>G (p.Pro813Arg) | |
| X | g.108681775C>T | CA413851924 | COL4A5 | c.4103C>T (p.Pro1368Leu) c.4085C>T (p.Pro1362Leu) n.597C>T n.506C>T c.4094C>T (p.Pro1365Leu) c.3779C>T (p.Pro1260Leu) c.1676C>T (p.Pro559Leu) c.4118C>T (p.Pro1373Leu) c.4109C>T (p.Pro1370Leu) c.4100C>T (p.Pro1367Leu) c.2438C>T (p.Pro813Leu) | |
| X | g.108681776T>A | CA517923798 | COL4A5 | c.4104T>A (p.Pro1368=) c.4086T>A (p.Pro1362=) n.598T>A n.507T>A c.4095T>A (p.Pro1365=) c.3780T>A (p.Pro1260=) c.1677T>A (p.Pro559=) c.4119T>A (p.Pro1373=) c.4110T>A (p.Pro1370=) c.4101T>A (p.Pro1367=) c.2439T>A (p.Pro813=) | |
| X | g.108681776T>C | CA517923800 | COL4A5 | c.4104T>C (p.Pro1368=) c.4086T>C (p.Pro1362=) n.598T>C n.507T>C c.4095T>C (p.Pro1365=) c.3780T>C (p.Pro1260=) c.1677T>C (p.Pro559=) c.4119T>C (p.Pro1373=) c.4110T>C (p.Pro1370=) c.4101T>C (p.Pro1367=) c.2439T>C (p.Pro813=) | |
| X | g.108681776T>G | CA517923799 | COL4A5 | c.4104T>G (p.Pro1368=) c.4086T>G (p.Pro1362=) n.598T>G n.507T>G c.4095T>G (p.Pro1365=) c.3780T>G (p.Pro1260=) c.1677T>G (p.Pro559=) c.4119T>G (p.Pro1373=) c.4110T>G (p.Pro1370=) c.4101T>G (p.Pro1367=) c.2439T>G (p.Pro813=) | gnomAD v4 |
| X | g.108681776_108681777delinsTG | CA2450717220 | COL4A5 | c.4104_4105delinsTG (p.Pro1368=) c.4086_4087delinsTG (p.Pro1362=) n.598_599delinsTG n.507_508delinsTG c.4095_4096delinsTG (p.Pro1365=) c.3780_3781delinsTG (p.Pro1260=) c.1677_1678delinsTG (p.Pro559=) c.4119_4120delinsTG (p.Pro1373=) c.4110_4111delinsTG (p.Pro1370=) c.4101_4102delinsTG (p.Pro1367=) c.2439_2440delinsTG (p.Pro813=) | |
| X | g.108681777G>A | CA413851929 | COL4A5 | c.4105G>A (p.Gly1369Ser) c.4087G>A (p.Gly1363Ser) n.599G>A n.508G>A c.4096G>A (p.Gly1366Ser) c.3781G>A (p.Gly1261Ser) c.1678G>A (p.Gly560Ser) c.4120G>A (p.Gly1374Ser) c.4111G>A (p.Gly1371Ser) c.4102G>A (p.Gly1368Ser) c.2440G>A (p.Gly814Ser) | |
| X | g.108681777G>C | CA413851927 | COL4A5 | c.4105G>C (p.Gly1369Arg) c.4087G>C (p.Gly1363Arg) n.599G>C n.508G>C c.4096G>C (p.Gly1366Arg) c.3781G>C (p.Gly1261Arg) c.1678G>C (p.Gly560Arg) c.4120G>C (p.Gly1374Arg) c.4111G>C (p.Gly1371Arg) c.4102G>C (p.Gly1368Arg) c.2440G>C (p.Gly814Arg) | |
| X | g.108681777G>T | CA413851925 | COL4A5 | c.4105G>T (p.Gly1369Cys) c.4087G>T (p.Gly1363Cys) n.599G>T n.508G>T c.4096G>T (p.Gly1366Cys) c.3781G>T (p.Gly1261Cys) c.1678G>T (p.Gly560Cys) c.4120G>T (p.Gly1374Cys) c.4111G>T (p.Gly1371Cys) c.4102G>T (p.Gly1368Cys) c.2440G>T (p.Gly814Cys) | |
| X | g.108681778del | CA891843686 | COL4A5 | c.4106del (p.Gly1369ValfsTer8) c.4088del (p.Gly1363ValfsTer8) n.600del n.509del c.4097del (p.Gly1366ValfsTer8) c.3782del (p.Gly1261ValfsTer8) c.1679del (p.Gly560ValfsTer8) c.4121del (p.Gly1374ValfsTer8) c.4112del (p.Gly1371ValfsTer8) c.4103del (p.Gly1368ValfsTer8) c.2441del (p.Gly814ValfsTer8) | ClinVar dbSNP gnomAD v4 |
| X | g.108681778G>A | CA413851932 | COL4A5 | c.4106G>A (p.Gly1369Asp) c.4088G>A (p.Gly1363Asp) n.600G>A n.509G>A c.4097G>A (p.Gly1366Asp) c.3782G>A (p.Gly1261Asp) c.1679G>A (p.Gly560Asp) c.4121G>A (p.Gly1374Asp) c.4112G>A (p.Gly1371Asp) c.4103G>A (p.Gly1368Asp) c.2441G>A (p.Gly814Asp) | |
| X | g.108681778G>C | CA413851933 | COL4A5 | c.4106G>C (p.Gly1369Ala) c.4088G>C (p.Gly1363Ala) n.600G>C n.509G>C c.4097G>C (p.Gly1366Ala) c.3782G>C (p.Gly1261Ala) c.1679G>C (p.Gly560Ala) c.4121G>C (p.Gly1374Ala) c.4112G>C (p.Gly1371Ala) c.4103G>C (p.Gly1368Ala) c.2441G>C (p.Gly814Ala) | |
| X | g.108681778G>T | CA413851934 | COL4A5 | c.4106G>T (p.Gly1369Val) c.4088G>T (p.Gly1363Val) n.600G>T n.509G>T c.4097G>T (p.Gly1366Val) c.3782G>T (p.Gly1261Val) c.1679G>T (p.Gly560Val) c.4121G>T (p.Gly1374Val) c.4112G>T (p.Gly1371Val) c.4103G>T (p.Gly1368Val) c.2441G>T (p.Gly814Val) | |
| X | g.108681779T>A | CA517923801 | COL4A5 | c.4107T>A (p.Gly1369=) c.4089T>A (p.Gly1363=) n.601T>A n.510T>A c.4098T>A (p.Gly1366=) c.3783T>A (p.Gly1261=) c.1680T>A (p.Gly560=) c.4122T>A (p.Gly1374=) c.4113T>A (p.Gly1371=) c.4104T>A (p.Gly1368=) c.2442T>A (p.Gly814=) | |
| X | g.108681779T>C | CA517923802 | COL4A5 | c.4107T>C (p.Gly1369=) c.4089T>C (p.Gly1363=) n.601T>C n.510T>C c.4098T>C (p.Gly1366=) c.3783T>C (p.Gly1261=) c.1680T>C (p.Gly560=) c.4122T>C (p.Gly1374=) c.4113T>C (p.Gly1371=) c.4104T>C (p.Gly1368=) c.2442T>C (p.Gly814=) | |
| X | g.108681779T>G | CA517923803 | COL4A5 | c.4107T>G (p.Gly1369=) c.4089T>G (p.Gly1363=) n.601T>G n.510T>G c.4098T>G (p.Gly1366=) c.3783T>G (p.Gly1261=) c.1680T>G (p.Gly560=) c.4122T>G (p.Gly1374=) c.4113T>G (p.Gly1371=) c.4104T>G (p.Gly1368=) c.2442T>G (p.Gly814=) | |
| X | g.108681780C>A | CA413851937 | COL4A5 | c.4108C>A (p.Pro1370Thr) c.4090C>A (p.Pro1364Thr) n.602C>A n.511C>A c.4099C>A (p.Pro1367Thr) c.3784C>A (p.Pro1262Thr) c.1681C>A (p.Pro561Thr) c.4123C>A (p.Pro1375Thr) c.4114C>A (p.Pro1372Thr) c.4105C>A (p.Pro1369Thr) c.2443C>A (p.Pro815Thr) | gnomAD v4 |
| X | g.108681780C>G | CA413851938 | COL4A5 | c.4108C>G (p.Pro1370Ala) c.4090C>G (p.Pro1364Ala) n.602C>G n.511C>G c.4099C>G (p.Pro1367Ala) c.3784C>G (p.Pro1262Ala) c.1681C>G (p.Pro561Ala) c.4123C>G (p.Pro1375Ala) c.4114C>G (p.Pro1372Ala) c.4105C>G (p.Pro1369Ala) c.2443C>G (p.Pro815Ala) | |
| X | g.108681780C>T | CA413851939 | COL4A5 | c.4108C>T (p.Pro1370Ser) c.4090C>T (p.Pro1364Ser) n.602C>T n.511C>T c.4099C>T (p.Pro1367Ser) c.3784C>T (p.Pro1262Ser) c.1681C>T (p.Pro561Ser) c.4123C>T (p.Pro1375Ser) c.4114C>T (p.Pro1372Ser) c.4105C>T (p.Pro1369Ser) c.2443C>T (p.Pro815Ser) | |
| X | g.108681781del | CA2580100212 | COL4A5 | c.4109del (p.Pro1370LeufsTer7) c.4091del (p.Pro1364LeufsTer7) n.603del n.512del c.4100del (p.Pro1367LeufsTer7) c.3785del (p.Pro1262LeufsTer7) c.1682del (p.Pro561LeufsTer7) c.4124del (p.Pro1375LeufsTer7) c.4115del (p.Pro1372LeufsTer7) c.4106del (p.Pro1369LeufsTer7) c.2444del (p.Pro815LeufsTer7) | ClinVar |
| X | g.108681781C>A | CA413851944 | COL4A5 | c.4109C>A (p.Pro1370His) c.4091C>A (p.Pro1364His) n.603C>A n.512C>A c.4100C>A (p.Pro1367His) c.3785C>A (p.Pro1262His) c.1682C>A (p.Pro561His) c.4124C>A (p.Pro1375His) c.4115C>A (p.Pro1372His) c.4106C>A (p.Pro1369His) c.2444C>A (p.Pro815His) | |
| X | g.108681781C= | CA2450717221 | COL4A5 | c.4109C= (p.Pro1370=) c.4091C= (p.Pro1364=) n.603C= n.512C= c.4100C= (p.Pro1367=) c.3785C= (p.Pro1262=) c.1682C= (p.Pro561=) c.4124C= (p.Pro1375=) c.4115C= (p.Pro1372=) c.4106C= (p.Pro1369=) c.2444C= (p.Pro815=) | |
| X | g.108681781C>G | CA413851941 | COL4A5 | c.4109C>G (p.Pro1370Arg) c.4091C>G (p.Pro1364Arg) n.603C>G n.512C>G c.4100C>G (p.Pro1367Arg) c.3785C>G (p.Pro1262Arg) c.1682C>G (p.Pro561Arg) c.4124C>G (p.Pro1375Arg) c.4115C>G (p.Pro1372Arg) c.4106C>G (p.Pro1369Arg) c.2444C>G (p.Pro815Arg) | |
| X | g.108681781C>T | CA10489293 | COL4A5 | c.4109C>T (p.Pro1370Leu) c.4091C>T (p.Pro1364Leu) n.603C>T n.512C>T c.4100C>T (p.Pro1367Leu) c.3785C>T (p.Pro1262Leu) c.1682C>T (p.Pro561Leu) c.4124C>T (p.Pro1375Leu) c.4115C>T (p.Pro1372Leu) c.4106C>T (p.Pro1369Leu) c.2444C>T (p.Pro815Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.108681782T>A | CA517923804 | COL4A5 | c.4110T>A (p.Pro1370=) c.4092T>A (p.Pro1364=) n.604T>A n.513T>A c.4101T>A (p.Pro1367=) c.3786T>A (p.Pro1262=) c.1683T>A (p.Pro561=) c.4125T>A (p.Pro1375=) c.4116T>A (p.Pro1372=) c.4107T>A (p.Pro1369=) c.2445T>A (p.Pro815=) | |
| X | g.108681782T>C | CA517923805 | COL4A5 | c.4110T>C (p.Pro1370=) c.4092T>C (p.Pro1364=) n.604T>C n.513T>C c.4101T>C (p.Pro1367=) c.3786T>C (p.Pro1262=) c.1683T>C (p.Pro561=) c.4125T>C (p.Pro1375=) c.4116T>C (p.Pro1372=) c.4107T>C (p.Pro1369=) c.2445T>C (p.Pro815=) | COSMIC COSMIC |
| X | g.108681782T>G | CA517923806 | COL4A5 | c.4110T>G (p.Pro1370=) c.4092T>G (p.Pro1364=) n.604T>G n.513T>G c.4101T>G (p.Pro1367=) c.3786T>G (p.Pro1262=) c.1683T>G (p.Pro561=) c.4125T>G (p.Pro1375=) c.4116T>G (p.Pro1372=) c.4107T>G (p.Pro1369=) c.2445T>G (p.Pro815=) | |
| X | g.108681783T>A | CA413851951 | COL4A5 | c.4111T>A (p.Ser1371Thr) c.4093T>A (p.Ser1365Thr) n.605T>A n.514T>A c.4102T>A (p.Ser1368Thr) c.3787T>A (p.Ser1263Thr) c.1684T>A (p.Ser562Thr) c.4126T>A (p.Ser1376Thr) c.4117T>A (p.Ser1373Thr) c.4108T>A (p.Ser1370Thr) c.2446T>A (p.Ser816Thr) | |
| X | g.108681783T>C | CA413851954 | COL4A5 | c.4111T>C (p.Ser1371Pro) c.4093T>C (p.Ser1365Pro) n.605T>C n.514T>C c.4102T>C (p.Ser1368Pro) c.3787T>C (p.Ser1263Pro) c.1684T>C (p.Ser562Pro) c.4126T>C (p.Ser1376Pro) c.4117T>C (p.Ser1373Pro) c.4108T>C (p.Ser1370Pro) c.2446T>C (p.Ser816Pro) | |
| X | g.108681783T>G | CA413851955 | COL4A5 | c.4111T>G (p.Ser1371Ala) c.4093T>G (p.Ser1365Ala) n.605T>G n.514T>G c.4102T>G (p.Ser1368Ala) c.3787T>G (p.Ser1263Ala) c.1684T>G (p.Ser562Ala) c.4126T>G (p.Ser1376Ala) c.4117T>G (p.Ser1373Ala) c.4108T>G (p.Ser1370Ala) c.2446T>G (p.Ser816Ala) | |
| X | g.108681784del | CA2695235229 | COL4A5 | c.4112del (p.Ser1371Ter) c.4094del (p.Ser1365Ter) n.606del n.515del c.4103del (p.Ser1368Ter) c.3788del (p.Ser1263Ter) c.1685del (p.Ser562Ter) c.4127del (p.Ser1376Ter) c.4118del (p.Ser1373Ter) c.4109del (p.Ser1370Ter) c.2447del (p.Ser816Ter) | |
| X | g.108681784C>A | CA413851956 | COL4A5 | c.4112C>A (p.Ser1371Ter) c.4094C>A (p.Ser1365Ter) n.606C>A n.515C>A c.4103C>A (p.Ser1368Ter) c.3788C>A (p.Ser1263Ter) c.1685C>A (p.Ser562Ter) c.4127C>A (p.Ser1376Ter) c.4118C>A (p.Ser1373Ter) c.4109C>A (p.Ser1370Ter) c.2447C>A (p.Ser816Ter) | |
| X | g.108681784C>G | CA413851958 | COL4A5 | c.4112C>G (p.Ser1371Ter) c.4094C>G (p.Ser1365Ter) n.606C>G n.515C>G c.4103C>G (p.Ser1368Ter) c.3788C>G (p.Ser1263Ter) c.1685C>G (p.Ser562Ter) c.4127C>G (p.Ser1376Ter) c.4118C>G (p.Ser1373Ter) c.4109C>G (p.Ser1370Ter) c.2447C>G (p.Ser816Ter) | |
| X | g.108681784C>T | CA413851959 | COL4A5 | c.4112C>T (p.Ser1371Leu) c.4094C>T (p.Ser1365Leu) n.606C>T n.515C>T c.4103C>T (p.Ser1368Leu) c.3788C>T (p.Ser1263Leu) c.1685C>T (p.Ser562Leu) c.4127C>T (p.Ser1376Leu) c.4118C>T (p.Ser1373Leu) c.4109C>T (p.Ser1370Leu) c.2447C>T (p.Ser816Leu) | |
| X | g.108681785A>C | CA517923807 | COL4A5 | c.4113A>C (p.Ser1371=) c.4095A>C (p.Ser1365=) n.607A>C n.516A>C c.4104A>C (p.Ser1368=) c.3789A>C (p.Ser1263=) c.1686A>C (p.Ser562=) c.4128A>C (p.Ser1376=) c.4119A>C (p.Ser1373=) c.4110A>C (p.Ser1370=) c.2448A>C (p.Ser816=) | |
| X | g.108681785A>G | CA517923808 | COL4A5 | c.4113A>G (p.Ser1371=) c.4095A>G (p.Ser1365=) n.607A>G n.516A>G c.4104A>G (p.Ser1368=) c.3789A>G (p.Ser1263=) c.1686A>G (p.Ser562=) c.4128A>G (p.Ser1376=) c.4119A>G (p.Ser1373=) c.4110A>G (p.Ser1370=) c.2448A>G (p.Ser816=) | |
| X | g.108681785A>T | CA517923809 | COL4A5 | c.4113A>T (p.Ser1371=) c.4095A>T (p.Ser1365=) n.607A>T n.516A>T c.4104A>T (p.Ser1368=) c.3789A>T (p.Ser1263=) c.1686A>T (p.Ser562=) c.4128A>T (p.Ser1376=) c.4119A>T (p.Ser1373=) c.4110A>T (p.Ser1370=) c.2448A>T (p.Ser816=) | |
| X | g.108681786G>A | CA413851962 | COL4A5 | c.4114G>A (p.Gly1372Arg) c.4096G>A (p.Gly1366Arg) n.608G>A n.517G>A c.4105G>A (p.Gly1369Arg) c.3790G>A (p.Gly1264Arg) c.1687G>A (p.Gly563Arg) c.4129G>A (p.Gly1377Arg) c.4120G>A (p.Gly1374Arg) c.4111G>A (p.Gly1371Arg) c.2449G>A (p.Gly817Arg) | |
| X | g.108681786G>C | CA413851965 | COL4A5 | c.4114G>C (p.Gly1372Arg) c.4096G>C (p.Gly1366Arg) n.608G>C n.517G>C c.4105G>C (p.Gly1369Arg) c.3790G>C (p.Gly1264Arg) c.1687G>C (p.Gly563Arg) c.4129G>C (p.Gly1377Arg) c.4120G>C (p.Gly1374Arg) c.4111G>C (p.Gly1371Arg) c.2449G>C (p.Gly817Arg) | |
| X | g.108681786G>T | CA413851967 | COL4A5 | c.4114G>T (p.Gly1372Ter) c.4096G>T (p.Gly1366Ter) n.608G>T n.517G>T c.4105G>T (p.Gly1369Ter) c.3790G>T (p.Gly1264Ter) c.1687G>T (p.Gly563Ter) c.4129G>T (p.Gly1377Ter) c.4120G>T (p.Gly1374Ter) c.4111G>T (p.Gly1371Ter) c.2449G>T (p.Gly817Ter) | |
| X | g.108681787G>A | CA413851969 | COL4A5 | c.4115G>A (p.Gly1372Glu) c.4097G>A (p.Gly1366Glu) n.609G>A n.518G>A c.4106G>A (p.Gly1369Glu) c.3791G>A (p.Gly1264Glu) c.1688G>A (p.Gly563Glu) c.4130G>A (p.Gly1377Glu) c.4121G>A (p.Gly1374Glu) c.4112G>A (p.Gly1371Glu) c.2450G>A (p.Gly817Glu) | |
| X | g.108681787G>C | CA413851971 | COL4A5 | c.4115G>C (p.Gly1372Ala) c.4097G>C (p.Gly1366Ala) n.609G>C n.518G>C c.4106G>C (p.Gly1369Ala) c.3791G>C (p.Gly1264Ala) c.1688G>C (p.Gly563Ala) c.4130G>C (p.Gly1377Ala) c.4121G>C (p.Gly1374Ala) c.4112G>C (p.Gly1371Ala) c.2450G>C (p.Gly817Ala) | |
| X | g.108681787G>T | CA413851973 | COL4A5 | c.4115G>T (p.Gly1372Val) c.4097G>T (p.Gly1366Val) n.609G>T n.518G>T c.4106G>T (p.Gly1369Val) c.3791G>T (p.Gly1264Val) c.1688G>T (p.Gly563Val) c.4130G>T (p.Gly1377Val) c.4121G>T (p.Gly1374Val) c.4112G>T (p.Gly1371Val) c.2450G>T (p.Gly817Val) | |
| X | g.108681788A= | CA2450717223 | COL4A5 | c.4116A= (p.Gly1372=) c.4098A= (p.Gly1366=) n.610A= n.519A= c.4107A= (p.Gly1369=) c.3792A= (p.Gly1264=) c.1689A= (p.Gly563=) c.4131A= (p.Gly1377=) c.4122A= (p.Gly1374=) c.4113A= (p.Gly1371=) c.2451A= (p.Gly817=) | |
| X | g.108681788A>C | CA10489294 | COL4A5 | c.4116A>C (p.Gly1372=) c.4098A>C (p.Gly1366=) n.610A>C n.519A>C c.4107A>C (p.Gly1369=) c.3792A>C (p.Gly1264=) c.1689A>C (p.Gly563=) c.4131A>C (p.Gly1377=) c.4122A>C (p.Gly1374=) c.4113A>C (p.Gly1371=) c.2451A>C (p.Gly817=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681788A>G | CA517923811 | COL4A5 | c.4116A>G (p.Gly1372=) c.4098A>G (p.Gly1366=) n.610A>G n.519A>G c.4107A>G (p.Gly1369=) c.3792A>G (p.Gly1264=) c.1689A>G (p.Gly563=) c.4131A>G (p.Gly1377=) c.4122A>G (p.Gly1374=) c.4113A>G (p.Gly1371=) c.2451A>G (p.Gly817=) | gnomAD v4 |
| X | g.108681788A>T | CA517923810 | COL4A5 | c.4116A>T (p.Gly1372=) c.4098A>T (p.Gly1366=) n.610A>T n.519A>T c.4107A>T (p.Gly1369=) c.3792A>T (p.Gly1264=) c.1689A>T (p.Gly563=) c.4131A>T (p.Gly1377=) c.4122A>T (p.Gly1374=) c.4113A>T (p.Gly1371=) c.2451A>T (p.Gly817=) | |
| X | g.108681788_108681796delinsACAGAGTAT | CA2450717222 | COL4A5 | c.4116_4124delinsACAGAGTAT (p.Gly1372=) c.4098_4106delinsACAGAGTAT (p.Gly1366=) n.610_618delinsACAGAGTAT n.519_527delinsACAGAGTAT c.4107_4115delinsACAGAGTAT (p.Gly1369=) c.3792_3800delinsACAGAGTAT (p.Gly1264=) c.1689_1697delinsACAGAGTAT (p.Gly563=) c.4131_4139delinsACAGAGTAT (p.Gly1377=) c.4122_4130delinsACAGAGTAT (p.Gly1374=) c.4113_4121delinsACAGAGTAT (p.Gly1371=) c.2451_2459delinsACAGAGTAT (p.Gly817=) | |
| X | g.108681789C>A | CA10489295 | COL4A5 | c.4117C>A (p.Gln1373Lys) c.4099C>A (p.Gln1367Lys) n.611C>A n.520C>A c.4108C>A (p.Gln1370Lys) c.3793C>A (p.Gln1265Lys) c.1690C>A (p.Gln564Lys) c.4132C>A (p.Gln1378Lys) c.4123C>A (p.Gln1375Lys) c.4114C>A (p.Gln1372Lys) c.2452C>A (p.Gln818Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108681789C= | CA2450717225 | COL4A5 | c.4117C= (p.Gln1373=) c.4099C= (p.Gln1367=) n.611C= n.520C= c.4108C= (p.Gln1370=) c.3793C= (p.Gln1265=) c.1690C= (p.Gln564=) c.4132C= (p.Gln1378=) c.4123C= (p.Gln1375=) c.4114C= (p.Gln1372=) c.2452C= (p.Gln818=) | |
| X | g.108681789C>G | CA413851978 | COL4A5 | c.4117C>G (p.Gln1373Glu) c.4099C>G (p.Gln1367Glu) n.611C>G n.520C>G c.4108C>G (p.Gln1370Glu) c.3793C>G (p.Gln1265Glu) c.1690C>G (p.Gln564Glu) c.4132C>G (p.Gln1378Glu) c.4123C>G (p.Gln1375Glu) c.4114C>G (p.Gln1372Glu) c.2452C>G (p.Gln818Glu) | |
| X | g.108681789C>T | CA413851977 | COL4A5 | c.4117C>T (p.Gln1373Ter) c.4099C>T (p.Gln1367Ter) n.611C>T n.520C>T c.4108C>T (p.Gln1370Ter) c.3793C>T (p.Gln1265Ter) c.1690C>T (p.Gln564Ter) c.4132C>T (p.Gln1378Ter) c.4123C>T (p.Gln1375Ter) c.4114C>T (p.Gln1372Ter) c.2452C>T (p.Gln818Ter) | |
| X | g.108681789_108681791delinsCAG | CA2450717224 | COL4A5 | c.4117_4119delinsCAG (p.Gln1373=) c.4099_4101delinsCAG (p.Gln1367=) n.611_613delinsCAG n.520_522delinsCAG c.4108_4110delinsCAG (p.Gln1370=) c.3793_3795delinsCAG (p.Gln1265=) c.1690_1692delinsCAG (p.Gln564=) c.4132_4134delinsCAG (p.Gln1378=) c.4123_4125delinsCAG (p.Gln1375=) c.4114_4116delinsCAG (p.Gln1372=) c.2452_2454delinsCAG (p.Gln818=) | |
| X | g.108681791_108681798del | CA1139667748 | COL4A5 | c.4119_4126del (p.Gln1373HisfsTer3) c.4101_4108del (p.Gln1367HisfsTer3) n.613_620del n.522_529del c.4110_4117del (p.Gln1370HisfsTer3) c.3795_3802del (p.Gln1265HisfsTer3) c.1692_1699del (p.Gln564HisfsTer3) c.4134_4141del (p.Gln1378HisfsTer3) c.4125_4132del (p.Gln1375HisfsTer3) c.4116_4123del (p.Gln1372HisfsTer3) c.2454_2461del (p.Gln818HisfsTer3) | ClinVar dbSNP |
| X | g.108681790A>C | CA413851985 | COL4A5 | c.4118A>C (p.Gln1373Pro) c.4100A>C (p.Gln1367Pro) n.612A>C n.521A>C c.4109A>C (p.Gln1370Pro) c.3794A>C (p.Gln1265Pro) c.1691A>C (p.Gln564Pro) c.4133A>C (p.Gln1378Pro) c.4124A>C (p.Gln1375Pro) c.4115A>C (p.Gln1372Pro) c.2453A>C (p.Gln818Pro) | |
| X | g.108681790A>G | CA413851988 | COL4A5 | c.4118A>G (p.Gln1373Arg) c.4100A>G (p.Gln1367Arg) n.612A>G n.521A>G c.4109A>G (p.Gln1370Arg) c.3794A>G (p.Gln1265Arg) c.1691A>G (p.Gln564Arg) c.4133A>G (p.Gln1378Arg) c.4124A>G (p.Gln1375Arg) c.4115A>G (p.Gln1372Arg) c.2453A>G (p.Gln818Arg) | |
| X | g.108681790A>T | CA413851990 | COL4A5 | c.4118A>T (p.Gln1373Leu) c.4100A>T (p.Gln1367Leu) n.612A>T n.521A>T c.4109A>T (p.Gln1370Leu) c.3794A>T (p.Gln1265Leu) c.1691A>T (p.Gln564Leu) c.4133A>T (p.Gln1378Leu) c.4124A>T (p.Gln1375Leu) c.4115A>T (p.Gln1372Leu) c.2453A>T (p.Gln818Leu) | |
| X | g.108681792_108681793del | CA258986 | COL4A5 | c.4120_4121del (p.Ser1374TyrfsTer4) c.4102_4103del (p.Ser1368TyrfsTer4) n.614_615del n.523_524del c.4111_4112del (p.Ser1371TyrfsTer4) c.3796_3797del (p.Ser1266TyrfsTer4) c.1693_1694del (p.Ser565TyrfsTer4) c.4135_4136del (p.Ser1379TyrfsTer4) c.4126_4127del (p.Ser1376TyrfsTer4) c.4117_4118del (p.Ser1373TyrfsTer4) c.2455_2456del (p.Ser819TyrfsTer4) | dbSNP |
| X | g.108681791_108681795dup | CA2695235230 | COL4A5 | c.4119_4123dup (p.Ile1375ArgfsTer4) c.4101_4105dup (p.Ile1369ArgfsTer4) n.613_617dup n.522_526dup c.4110_4114dup (p.Ile1372ArgfsTer4) c.3795_3799dup (p.Ile1267ArgfsTer4) c.1692_1696dup (p.Ile566ArgfsTer4) c.4134_4138dup (p.Ile1380ArgfsTer4) c.4125_4129dup (p.Ile1377ArgfsTer4) c.4116_4120dup (p.Ile1374ArgfsTer4) c.2454_2458dup (p.Ile820ArgfsTer4) | |
| X | g.108681791G>A | CA517923812 | COL4A5 | c.4119G>A (p.Gln1373=) c.4101G>A (p.Gln1367=) n.613G>A n.522G>A c.4110G>A (p.Gln1370=) c.3795G>A (p.Gln1265=) c.1692G>A (p.Gln564=) c.4134G>A (p.Gln1378=) c.4125G>A (p.Gln1375=) c.4116G>A (p.Gln1372=) c.2454G>A (p.Gln818=) | |
| X | g.108681791G>C | CA413851994 | COL4A5 | c.4119G>C (p.Gln1373His) c.4101G>C (p.Gln1367His) n.613G>C n.522G>C c.4110G>C (p.Gln1370His) c.3795G>C (p.Gln1265His) c.1692G>C (p.Gln564His) c.4134G>C (p.Gln1378His) c.4125G>C (p.Gln1375His) c.4116G>C (p.Gln1372His) c.2454G>C (p.Gln818His) | |
| X | g.108681791G>T | CA413851995 | COL4A5 | c.4119G>T (p.Gln1373His) c.4101G>T (p.Gln1367His) n.613G>T n.522G>T c.4110G>T (p.Gln1370His) c.3795G>T (p.Gln1265His) c.1692G>T (p.Gln564His) c.4134G>T (p.Gln1378His) c.4125G>T (p.Gln1375His) c.4116G>T (p.Gln1372His) c.2454G>T (p.Gln818His) | |
| X | g.108681792A>C | CA413851999 | COL4A5 | c.4120A>C (p.Ser1374Arg) c.4102A>C (p.Ser1368Arg) n.614A>C n.523A>C c.4111A>C (p.Ser1371Arg) c.3796A>C (p.Ser1266Arg) c.1693A>C (p.Ser565Arg) c.4135A>C (p.Ser1379Arg) c.4126A>C (p.Ser1376Arg) c.4117A>C (p.Ser1373Arg) c.2455A>C (p.Ser819Arg) | |
| X | g.108681792A>G | CA413851997 | COL4A5 | c.4120A>G (p.Ser1374Gly) c.4102A>G (p.Ser1368Gly) n.614A>G n.523A>G c.4111A>G (p.Ser1371Gly) c.3796A>G (p.Ser1266Gly) c.1693A>G (p.Ser565Gly) c.4135A>G (p.Ser1379Gly) c.4126A>G (p.Ser1376Gly) c.4117A>G (p.Ser1373Gly) c.2455A>G (p.Ser819Gly) | |
| X | g.108681792A>T | CA413851996 | COL4A5 | c.4120A>T (p.Ser1374Cys) c.4102A>T (p.Ser1368Cys) n.614A>T n.523A>T c.4111A>T (p.Ser1371Cys) c.3796A>T (p.Ser1266Cys) c.1693A>T (p.Ser565Cys) c.4135A>T (p.Ser1379Cys) c.4126A>T (p.Ser1376Cys) c.4117A>T (p.Ser1373Cys) c.2455A>T (p.Ser819Cys) | |
| X | g.108681793G>A | CA413852001 | COL4A5 | c.4121G>A (p.Ser1374Asn) c.4103G>A (p.Ser1368Asn) n.615G>A n.524G>A c.4112G>A (p.Ser1371Asn) c.3797G>A (p.Ser1266Asn) c.1694G>A (p.Ser565Asn) c.4136G>A (p.Ser1379Asn) c.4127G>A (p.Ser1376Asn) c.4118G>A (p.Ser1373Asn) c.2456G>A (p.Ser819Asn) | |
| X | g.108681793G>C | CA413852002 | COL4A5 | c.4121G>C (p.Ser1374Thr) c.4103G>C (p.Ser1368Thr) n.615G>C n.524G>C c.4112G>C (p.Ser1371Thr) c.3797G>C (p.Ser1266Thr) c.1694G>C (p.Ser565Thr) c.4136G>C (p.Ser1379Thr) c.4127G>C (p.Ser1376Thr) c.4118G>C (p.Ser1373Thr) c.2456G>C (p.Ser819Thr) | |
| X | g.108681793G>T | CA413852004 | COL4A5 | c.4121G>T (p.Ser1374Ile) c.4103G>T (p.Ser1368Ile) n.615G>T n.524G>T c.4112G>T (p.Ser1371Ile) c.3797G>T (p.Ser1266Ile) c.1694G>T (p.Ser565Ile) c.4136G>T (p.Ser1379Ile) c.4127G>T (p.Ser1376Ile) c.4118G>T (p.Ser1373Ile) c.2456G>T (p.Ser819Ile) | |
| X | g.108681794T>A | CA413852006 | COL4A5 | c.4122T>A (p.Ser1374Arg) c.4104T>A (p.Ser1368Arg) n.616T>A n.525T>A c.4113T>A (p.Ser1371Arg) c.3798T>A (p.Ser1266Arg) c.1695T>A (p.Ser565Arg) c.4137T>A (p.Ser1379Arg) c.4128T>A (p.Ser1376Arg) c.4119T>A (p.Ser1373Arg) c.2457T>A (p.Ser819Arg) | |
| X | g.108681794T>C | CA517923813 | COL4A5 | c.4122T>C (p.Ser1374=) c.4104T>C (p.Ser1368=) n.616T>C n.525T>C c.4113T>C (p.Ser1371=) c.3798T>C (p.Ser1266=) c.1695T>C (p.Ser565=) c.4137T>C (p.Ser1379=) c.4128T>C (p.Ser1376=) c.4119T>C (p.Ser1373=) c.2457T>C (p.Ser819=) | gnomAD v4 |
| X | g.108681794T>G | CA413852008 | COL4A5 | c.4122T>G (p.Ser1374Arg) c.4104T>G (p.Ser1368Arg) n.616T>G n.525T>G c.4113T>G (p.Ser1371Arg) c.3798T>G (p.Ser1266Arg) c.1695T>G (p.Ser565Arg) c.4137T>G (p.Ser1379Arg) c.4128T>G (p.Ser1376Arg) c.4119T>G (p.Ser1373Arg) c.2457T>G (p.Ser819Arg) | |
| X | g.108681796_108681804dup | CA2739273723 | COL4A5 | c.4124_4132dup (p.Ile1377_Lys1378insIleIleIle) c.4106_4114dup (p.Ile1371_Lys1372insIleIleIle) n.618_626dup n.527_535dup c.4115_4123dup (p.Ile1374_Lys1375insIleIleIle) c.3800_3808dup (p.Ile1269_Lys1270insIleIleIle) c.1697_1705dup (p.Ile568_Lys569insIleIleIle) c.4139_4147dup (p.Ile1382_Lys1383insIleIleIle) c.4130_4138dup (p.Ile1379_Lys1380insIleIleIle) c.4121_4129dup (p.Ile1376_Lys1377insIleIleIle) c.2459_2467dup (p.Ile822_Lys823insIleIleIle) | ClinVar |
| X | g.108681795A>C | CA413852011 | COL4A5 | c.4123A>C (p.Ile1375Leu) c.4105A>C (p.Ile1369Leu) n.617A>C n.526A>C c.4114A>C (p.Ile1372Leu) c.3799A>C (p.Ile1267Leu) c.1696A>C (p.Ile566Leu) c.4138A>C (p.Ile1380Leu) c.4129A>C (p.Ile1377Leu) c.4120A>C (p.Ile1374Leu) c.2458A>C (p.Ile820Leu) | |
| X | g.108681795A>G | CA413852015 | COL4A5 | c.4123A>G (p.Ile1375Val) c.4105A>G (p.Ile1369Val) n.617A>G n.526A>G c.4114A>G (p.Ile1372Val) c.3799A>G (p.Ile1267Val) c.1696A>G (p.Ile566Val) c.4138A>G (p.Ile1380Val) c.4129A>G (p.Ile1377Val) c.4120A>G (p.Ile1374Val) c.2458A>G (p.Ile820Val) | gnomAD v4 |
| X | g.108681795A>T | CA413852013 | COL4A5 | c.4123A>T (p.Ile1375Phe) c.4105A>T (p.Ile1369Phe) n.617A>T n.526A>T c.4114A>T (p.Ile1372Phe) c.3799A>T (p.Ile1267Phe) c.1696A>T (p.Ile566Phe) c.4138A>T (p.Ile1380Phe) c.4129A>T (p.Ile1377Phe) c.4120A>T (p.Ile1374Phe) c.2458A>T (p.Ile820Phe) | |
| X | g.108681796T>A | CA413852018 | COL4A5 | c.4124T>A (p.Ile1375Asn) c.4106T>A (p.Ile1369Asn) n.618T>A n.527T>A c.4115T>A (p.Ile1372Asn) c.3800T>A (p.Ile1267Asn) c.1697T>A (p.Ile566Asn) c.4139T>A (p.Ile1380Asn) c.4130T>A (p.Ile1377Asn) c.4121T>A (p.Ile1374Asn) c.2459T>A (p.Ile820Asn) | |
| X | g.108681796T>C | CA413852019 | COL4A5 | c.4124T>C (p.Ile1375Thr) c.4106T>C (p.Ile1369Thr) n.618T>C n.527T>C c.4115T>C (p.Ile1372Thr) c.3800T>C (p.Ile1267Thr) c.1697T>C (p.Ile566Thr) c.4139T>C (p.Ile1380Thr) c.4130T>C (p.Ile1377Thr) c.4121T>C (p.Ile1374Thr) c.2459T>C (p.Ile820Thr) | |
| X | g.108681796T>G | CA413852020 | COL4A5 | c.4124T>G (p.Ile1375Ser) c.4106T>G (p.Ile1369Ser) n.618T>G n.527T>G c.4115T>G (p.Ile1372Ser) c.3800T>G (p.Ile1267Ser) c.1697T>G (p.Ile566Ser) c.4139T>G (p.Ile1380Ser) c.4130T>G (p.Ile1377Ser) c.4121T>G (p.Ile1374Ser) c.2459T>G (p.Ile820Ser) | |
| X | g.108681797C>A | CA517923814 | COL4A5 | c.4125C>A (p.Ile1375=) c.4107C>A (p.Ile1369=) n.619C>A n.528C>A c.4116C>A (p.Ile1372=) c.3801C>A (p.Ile1267=) c.1698C>A (p.Ile566=) c.4140C>A (p.Ile1380=) c.4131C>A (p.Ile1377=) c.4122C>A (p.Ile1374=) c.2460C>A (p.Ile820=) | gnomAD v4 |
| X | g.108681797C= | CA2450717226 | COL4A5 | c.4125C= (p.Ile1375=) c.4107C= (p.Ile1369=) n.619C= n.528C= c.4116C= (p.Ile1372=) c.3801C= (p.Ile1267=) c.1698C= (p.Ile566=) c.4140C= (p.Ile1380=) c.4131C= (p.Ile1377=) c.4122C= (p.Ile1374=) c.2460C= (p.Ile820=) | |
| X | g.108681797C>G | CA413852021 | COL4A5 | c.4125C>G (p.Ile1375Met) c.4107C>G (p.Ile1369Met) n.619C>G n.528C>G c.4116C>G (p.Ile1372Met) c.3801C>G (p.Ile1267Met) c.1698C>G (p.Ile566Met) c.4140C>G (p.Ile1380Met) c.4131C>G (p.Ile1377Met) c.4122C>G (p.Ile1374Met) c.2460C>G (p.Ile820Met) | |
| X | g.108681797C>T | CA10489296 | COL4A5 | c.4125C>T (p.Ile1375=) c.4107C>T (p.Ile1369=) n.619C>T n.528C>T c.4116C>T (p.Ile1372=) c.3801C>T (p.Ile1267=) c.1698C>T (p.Ile566=) c.4140C>T (p.Ile1380=) c.4131C>T (p.Ile1377=) c.4122C>T (p.Ile1374=) c.2460C>T (p.Ile820=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108681798A>C | CA413852023 | COL4A5 | c.4126A>C (p.Ile1376Leu) c.4108A>C (p.Ile1370Leu) n.620A>C n.529A>C c.4117A>C (p.Ile1373Leu) c.3802A>C (p.Ile1268Leu) c.1699A>C (p.Ile567Leu) c.4141A>C (p.Ile1381Leu) c.4132A>C (p.Ile1378Leu) c.4123A>C (p.Ile1375Leu) c.2461A>C (p.Ile821Leu) | |
| X | g.108681798A>G | CA413852030 | COL4A5 | c.4126A>G (p.Ile1376Val) c.4108A>G (p.Ile1370Val) n.620A>G n.529A>G c.4117A>G (p.Ile1373Val) c.3802A>G (p.Ile1268Val) c.1699A>G (p.Ile567Val) c.4141A>G (p.Ile1381Val) c.4132A>G (p.Ile1378Val) c.4123A>G (p.Ile1375Val) c.2461A>G (p.Ile821Val) | gnomAD v4 |
| X | g.108681798A>T | CA413852032 | COL4A5 | c.4126A>T (p.Ile1376Leu) c.4108A>T (p.Ile1370Leu) n.620A>T n.529A>T c.4117A>T (p.Ile1373Leu) c.3802A>T (p.Ile1268Leu) c.1699A>T (p.Ile567Leu) c.4141A>T (p.Ile1381Leu) c.4132A>T (p.Ile1378Leu) c.4123A>T (p.Ile1375Leu) c.2461A>T (p.Ile821Leu) | |
| X | g.108681799T>A | CA413852035 | COL4A5 | c.4127T>A (p.Ile1376Lys) c.4109T>A (p.Ile1370Lys) n.621T>A n.530T>A c.4118T>A (p.Ile1373Lys) c.3803T>A (p.Ile1268Lys) c.1700T>A (p.Ile567Lys) c.4142T>A (p.Ile1381Lys) c.4133T>A (p.Ile1378Lys) c.4124T>A (p.Ile1375Lys) c.2462T>A (p.Ile821Lys) | |
| X | g.108681799T>C | CA413852036 | COL4A5 | c.4127T>C (p.Ile1376Thr) c.4109T>C (p.Ile1370Thr) n.621T>C n.530T>C c.4118T>C (p.Ile1373Thr) c.3803T>C (p.Ile1268Thr) c.1700T>C (p.Ile567Thr) c.4142T>C (p.Ile1381Thr) c.4133T>C (p.Ile1378Thr) c.4124T>C (p.Ile1375Thr) c.2462T>C (p.Ile821Thr) | gnomAD v4 |
| X | g.108681799T>G | CA413852037 | COL4A5 | c.4127T>G (p.Ile1376Arg) c.4109T>G (p.Ile1370Arg) n.621T>G n.530T>G c.4118T>G (p.Ile1373Arg) c.3803T>G (p.Ile1268Arg) c.1700T>G (p.Ile567Arg) c.4142T>G (p.Ile1381Arg) c.4133T>G (p.Ile1378Arg) c.4124T>G (p.Ile1375Arg) c.2462T>G (p.Ile821Arg) | |
| X | g.108681800A>C | CA517923815 | COL4A5 | c.4128A>C (p.Ile1376=) c.4110A>C (p.Ile1370=) n.622A>C n.531A>C c.4119A>C (p.Ile1373=) c.3804A>C (p.Ile1268=) c.1701A>C (p.Ile567=) c.4143A>C (p.Ile1381=) c.4134A>C (p.Ile1378=) c.4125A>C (p.Ile1375=) c.2463A>C (p.Ile821=) | |
| X | g.108681800A>G | CA413852038 | COL4A5 | c.4128A>G (p.Ile1376Met) c.4110A>G (p.Ile1370Met) n.622A>G n.531A>G c.4119A>G (p.Ile1373Met) c.3804A>G (p.Ile1268Met) c.1701A>G (p.Ile567Met) c.4143A>G (p.Ile1381Met) c.4134A>G (p.Ile1378Met) c.4125A>G (p.Ile1375Met) c.2463A>G (p.Ile821Met) | |
| X | g.108681800A>T | CA517923816 | COL4A5 | c.4128A>T (p.Ile1376=) c.4110A>T (p.Ile1370=) n.622A>T n.531A>T c.4119A>T (p.Ile1373=) c.3804A>T (p.Ile1268=) c.1701A>T (p.Ile567=) c.4143A>T (p.Ile1381=) c.4134A>T (p.Ile1378=) c.4125A>T (p.Ile1375=) c.2463A>T (p.Ile821=) | |
| X | g.108681801A= | CA2450717227 | COL4A5 | c.4129A= (p.Ile1377=) c.4111A= (p.Ile1371=) n.623A= n.532A= c.4120A= (p.Ile1374=) c.3805A= (p.Ile1269=) c.1702A= (p.Ile568=) c.4144A= (p.Ile1382=) c.4135A= (p.Ile1379=) c.4126A= (p.Ile1376=) c.2464A= (p.Ile822=) | |
| X | g.108681801A>C | CA334055325 | COL4A5 | c.4129A>C (p.Ile1377Leu) c.4111A>C (p.Ile1371Leu) n.623A>C n.532A>C c.4120A>C (p.Ile1374Leu) c.3805A>C (p.Ile1269Leu) c.1702A>C (p.Ile568Leu) c.4144A>C (p.Ile1382Leu) c.4135A>C (p.Ile1379Leu) c.4126A>C (p.Ile1376Leu) c.2464A>C (p.Ile822Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108681801A>G | CA413852040 | COL4A5 | c.4129A>G (p.Ile1377Val) c.4111A>G (p.Ile1371Val) n.623A>G n.532A>G c.4120A>G (p.Ile1374Val) c.3805A>G (p.Ile1269Val) c.1702A>G (p.Ile568Val) c.4144A>G (p.Ile1382Val) c.4135A>G (p.Ile1379Val) c.4126A>G (p.Ile1376Val) c.2464A>G (p.Ile822Val) | |
| X | g.108681801A>T | CA413852042 | COL4A5 | c.4129A>T (p.Ile1377Phe) c.4111A>T (p.Ile1371Phe) n.623A>T n.532A>T c.4120A>T (p.Ile1374Phe) c.3805A>T (p.Ile1269Phe) c.1702A>T (p.Ile568Phe) c.4144A>T (p.Ile1382Phe) c.4135A>T (p.Ile1379Phe) c.4126A>T (p.Ile1376Phe) c.2464A>T (p.Ile822Phe) | |
| X | g.108681802T>A | CA413852049 | COL4A5 | c.4130T>A (p.Ile1377Asn) c.4112T>A (p.Ile1371Asn) n.624T>A n.533T>A c.4121T>A (p.Ile1374Asn) c.3806T>A (p.Ile1269Asn) c.1703T>A (p.Ile568Asn) c.4145T>A (p.Ile1382Asn) c.4136T>A (p.Ile1379Asn) c.4127T>A (p.Ile1376Asn) c.2465T>A (p.Ile822Asn) | |
| X | g.108681802T>C | CA413852052 | COL4A5 | c.4130T>C (p.Ile1377Thr) c.4112T>C (p.Ile1371Thr) n.624T>C n.533T>C c.4121T>C (p.Ile1374Thr) c.3806T>C (p.Ile1269Thr) c.1703T>C (p.Ile568Thr) c.4145T>C (p.Ile1382Thr) c.4136T>C (p.Ile1379Thr) c.4127T>C (p.Ile1376Thr) c.2465T>C (p.Ile822Thr) | |
| X | g.108681802T>G | CA413852054 | COL4A5 | c.4130T>G (p.Ile1377Ser) c.4112T>G (p.Ile1371Ser) n.624T>G n.533T>G c.4121T>G (p.Ile1374Ser) c.3806T>G (p.Ile1269Ser) c.1703T>G (p.Ile568Ser) c.4145T>G (p.Ile1382Ser) c.4136T>G (p.Ile1379Ser) c.4127T>G (p.Ile1376Ser) c.2465T>G (p.Ile822Ser) | |
| X | g.108681803T>A | CA517923817 | COL4A5 | c.4131T>A (p.Ile1377=) c.4113T>A (p.Ile1371=) n.625T>A n.534T>A c.4122T>A (p.Ile1374=) c.3807T>A (p.Ile1269=) c.1704T>A (p.Ile568=) c.4146T>A (p.Ile1382=) c.4137T>A (p.Ile1379=) c.4128T>A (p.Ile1376=) c.2466T>A (p.Ile822=) | |
| X | g.108681803T>C | CA517923818 | COL4A5 | c.4131T>C (p.Ile1377=) c.4113T>C (p.Ile1371=) n.625T>C n.534T>C c.4122T>C (p.Ile1374=) c.3807T>C (p.Ile1269=) c.1704T>C (p.Ile568=) c.4146T>C (p.Ile1382=) c.4137T>C (p.Ile1379=) c.4128T>C (p.Ile1376=) c.2466T>C (p.Ile822=) | gnomAD v3 gnomAD v4 |
| X | g.108681803T>G | CA413852055 | COL4A5 | c.4131T>G (p.Ile1377Met) c.4113T>G (p.Ile1371Met) n.625T>G n.534T>G c.4122T>G (p.Ile1374Met) c.3807T>G (p.Ile1269Met) c.1704T>G (p.Ile568Met) c.4146T>G (p.Ile1382Met) c.4137T>G (p.Ile1379Met) c.4128T>G (p.Ile1376Met) c.2466T>G (p.Ile822Met) | |
| X | g.108681804A>C | CA413852056 | COL4A5 | c.4132A>C (p.Lys1378Gln) c.4114A>C (p.Lys1372Gln) n.626A>C n.535A>C c.4123A>C (p.Lys1375Gln) c.3808A>C (p.Lys1270Gln) c.1705A>C (p.Lys569Gln) c.4147A>C (p.Lys1383Gln) c.4138A>C (p.Lys1380Gln) c.4129A>C (p.Lys1377Gln) c.2467A>C (p.Lys823Gln) | |
| X | g.108681804A>G | CA413852057 | COL4A5 | c.4132A>G (p.Lys1378Glu) c.4114A>G (p.Lys1372Glu) n.626A>G n.535A>G c.4123A>G (p.Lys1375Glu) c.3808A>G (p.Lys1270Glu) c.1705A>G (p.Lys569Glu) c.4147A>G (p.Lys1383Glu) c.4138A>G (p.Lys1380Glu) c.4129A>G (p.Lys1377Glu) c.2467A>G (p.Lys823Glu) | |
| X | g.108681804A>T | CA413852058 | COL4A5 | c.4132A>T (p.Lys1378Ter) c.4114A>T (p.Lys1372Ter) n.626A>T n.535A>T c.4123A>T (p.Lys1375Ter) c.3808A>T (p.Lys1270Ter) c.1705A>T (p.Lys569Ter) c.4147A>T (p.Lys1383Ter) c.4138A>T (p.Lys1380Ter) c.4129A>T (p.Lys1377Ter) c.2467A>T (p.Lys823Ter) | |
| X | g.108681805A>C | CA413852061 | COL4A5 | c.4133A>C (p.Lys1378Thr) c.4115A>C (p.Lys1372Thr) n.627A>C n.536A>C c.4124A>C (p.Lys1375Thr) c.3809A>C (p.Lys1270Thr) c.1706A>C (p.Lys569Thr) c.4148A>C (p.Lys1383Thr) c.4139A>C (p.Lys1380Thr) c.4130A>C (p.Lys1377Thr) c.2468A>C (p.Lys823Thr) | |
| X | g.108681805A>G | CA413852065 | COL4A5 | c.4133A>G (p.Lys1378Arg) c.4115A>G (p.Lys1372Arg) n.627A>G n.536A>G c.4124A>G (p.Lys1375Arg) c.3809A>G (p.Lys1270Arg) c.1706A>G (p.Lys569Arg) c.4148A>G (p.Lys1383Arg) c.4139A>G (p.Lys1380Arg) c.4130A>G (p.Lys1377Arg) c.2468A>G (p.Lys823Arg) | |
| X | g.108681805A>T | CA413852066 | COL4A5 | c.4133A>T (p.Lys1378Ile) c.4115A>T (p.Lys1372Ile) n.627A>T n.536A>T c.4124A>T (p.Lys1375Ile) c.3809A>T (p.Lys1270Ile) c.1706A>T (p.Lys569Ile) c.4148A>T (p.Lys1383Ile) c.4139A>T (p.Lys1380Ile) c.4130A>T (p.Lys1377Ile) c.2468A>T (p.Lys823Ile) | |
| X | g.108681806A>C | CA413852068 | COL4A5 | c.4134A>C (p.Lys1378Asn) c.4116A>C (p.Lys1372Asn) n.628A>C n.537A>C c.4125A>C (p.Lys1375Asn) c.3810A>C (p.Lys1270Asn) c.1707A>C (p.Lys569Asn) c.4149A>C (p.Lys1383Asn) c.4140A>C (p.Lys1380Asn) c.4131A>C (p.Lys1377Asn) c.2469A>C (p.Lys823Asn) | |
| X | g.108681806A>G | CA517923819 | COL4A5 | c.4134A>G (p.Lys1378=) c.4116A>G (p.Lys1372=) n.628A>G n.537A>G c.4125A>G (p.Lys1375=) c.3810A>G (p.Lys1270=) c.1707A>G (p.Lys569=) c.4149A>G (p.Lys1383=) c.4140A>G (p.Lys1380=) c.4131A>G (p.Lys1377=) c.2469A>G (p.Lys823=) | |
| X | g.108681806A>T | CA413852070 | COL4A5 | c.4134A>T (p.Lys1378Asn) c.4116A>T (p.Lys1372Asn) n.628A>T n.537A>T c.4125A>T (p.Lys1375Asn) c.3810A>T (p.Lys1270Asn) c.1707A>T (p.Lys569Asn) c.4149A>T (p.Lys1383Asn) c.4140A>T (p.Lys1380Asn) c.4131A>T (p.Lys1377Asn) c.2469A>T (p.Lys823Asn) | |
| X | g.108681807G>A | CA413852074 | COL4A5 | c.4135G>A (p.Gly1379Arg) c.4117G>A (p.Gly1373Arg) n.629G>A n.538G>A c.4126G>A (p.Gly1376Arg) c.3811G>A (p.Gly1271Arg) c.1708G>A (p.Gly570Arg) c.4150G>A (p.Gly1384Arg) c.4141G>A (p.Gly1381Arg) c.4132G>A (p.Gly1378Arg) c.2470G>A (p.Gly824Arg) | |
| X | g.108681807G>C | CA413852073 | COL4A5 | c.4135G>C (p.Gly1379Arg) c.4117G>C (p.Gly1373Arg) n.629G>C n.538G>C c.4126G>C (p.Gly1376Arg) c.3811G>C (p.Gly1271Arg) c.1708G>C (p.Gly570Arg) c.4150G>C (p.Gly1384Arg) c.4141G>C (p.Gly1381Arg) c.4132G>C (p.Gly1378Arg) c.2470G>C (p.Gly824Arg) | |
| X | g.108681807G>T | CA413852072 | COL4A5 | c.4135G>T (p.Gly1379Ter) c.4117G>T (p.Gly1373Ter) n.629G>T n.538G>T c.4126G>T (p.Gly1376Ter) c.3811G>T (p.Gly1271Ter) c.1708G>T (p.Gly570Ter) c.4150G>T (p.Gly1384Ter) c.4141G>T (p.Gly1381Ter) c.4132G>T (p.Gly1378Ter) c.2470G>T (p.Gly824Ter) | COSMIC |
| X | g.108681808G>A | CA413852075 | COL4A5 | c.4136G>A (p.Gly1379Glu) c.4118G>A (p.Gly1373Glu) n.630G>A n.539G>A c.4127G>A (p.Gly1376Glu) c.3812G>A (p.Gly1271Glu) c.1709G>A (p.Gly570Glu) c.4151G>A (p.Gly1384Glu) c.4142G>A (p.Gly1381Glu) c.4133G>A (p.Gly1378Glu) c.2471G>A (p.Gly824Glu) | |
| X | g.108681808G>C | CA413852077 | COL4A5 | c.4136G>C (p.Gly1379Ala) c.4118G>C (p.Gly1373Ala) n.630G>C n.539G>C c.4127G>C (p.Gly1376Ala) c.3812G>C (p.Gly1271Ala) c.1709G>C (p.Gly570Ala) c.4151G>C (p.Gly1384Ala) c.4142G>C (p.Gly1381Ala) c.4133G>C (p.Gly1378Ala) c.2471G>C (p.Gly824Ala) | |
| X | g.108681808G>T | CA413852079 | COL4A5 | c.4136G>T (p.Gly1379Val) c.4118G>T (p.Gly1373Val) n.630G>T n.539G>T c.4127G>T (p.Gly1376Val) c.3812G>T (p.Gly1271Val) c.1709G>T (p.Gly570Val) c.4151G>T (p.Gly1384Val) c.4142G>T (p.Gly1381Val) c.4133G>T (p.Gly1378Val) c.2471G>T (p.Gly824Val) | |
| X | g.108681809A>C | CA517923820 | COL4A5 | c.4137A>C (p.Gly1379=) c.4119A>C (p.Gly1373=) n.631A>C n.540A>C c.4128A>C (p.Gly1376=) c.3813A>C (p.Gly1271=) c.1710A>C (p.Gly570=) c.4152A>C (p.Gly1384=) c.4143A>C (p.Gly1381=) c.4134A>C (p.Gly1378=) c.2472A>C (p.Gly824=) | |
| X | g.108681809A>G | CA517923821 | COL4A5 | c.4137A>G (p.Gly1379=) c.4119A>G (p.Gly1373=) n.631A>G n.540A>G c.4128A>G (p.Gly1376=) c.3813A>G (p.Gly1271=) c.1710A>G (p.Gly570=) c.4152A>G (p.Gly1384=) c.4143A>G (p.Gly1381=) c.4134A>G (p.Gly1378=) c.2472A>G (p.Gly824=) | |
| X | g.108681809A>T | CA517923822 | COL4A5 | c.4137A>T (p.Gly1379=) c.4119A>T (p.Gly1373=) n.631A>T n.540A>T c.4128A>T (p.Gly1376=) c.3813A>T (p.Gly1271=) c.1710A>T (p.Gly570=) c.4152A>T (p.Gly1384=) c.4143A>T (p.Gly1381=) c.4134A>T (p.Gly1378=) c.2472A>T (p.Gly824=) | |
| X | g.108681810G>A | CA413852080 | COL4A5 | c.4138G>A (p.Asp1380Asn) c.4120G>A (p.Asp1374Asn) n.632G>A n.541G>A c.4129G>A (p.Asp1377Asn) c.3814G>A (p.Asp1272Asn) c.1711G>A (p.Asp571Asn) c.4153G>A (p.Asp1385Asn) c.4144G>A (p.Asp1382Asn) c.4135G>A (p.Asp1379Asn) c.2473G>A (p.Asp825Asn) | |
| X | g.108681810G>C | CA413852081 | COL4A5 | c.4138G>C (p.Asp1380His) c.4120G>C (p.Asp1374His) n.632G>C n.541G>C c.4129G>C (p.Asp1377His) c.3814G>C (p.Asp1272His) c.1711G>C (p.Asp571His) c.4153G>C (p.Asp1385His) c.4144G>C (p.Asp1382His) c.4135G>C (p.Asp1379His) c.2473G>C (p.Asp825His) | |
| X | g.108681810G>T | CA413852084 | COL4A5 | c.4138G>T (p.Asp1380Tyr) c.4120G>T (p.Asp1374Tyr) n.632G>T n.541G>T c.4129G>T (p.Asp1377Tyr) c.3814G>T (p.Asp1272Tyr) c.1711G>T (p.Asp571Tyr) c.4153G>T (p.Asp1385Tyr) c.4144G>T (p.Asp1382Tyr) c.4135G>T (p.Asp1379Tyr) c.2473G>T (p.Asp825Tyr) | |
| X | g.108681811A>C | CA413852088 | COL4A5 | c.4139A>C (p.Asp1380Ala) c.4121A>C (p.Asp1374Ala) n.633A>C n.542A>C c.4130A>C (p.Asp1377Ala) c.3815A>C (p.Asp1272Ala) c.1712A>C (p.Asp571Ala) c.4154A>C (p.Asp1385Ala) c.4145A>C (p.Asp1382Ala) c.4136A>C (p.Asp1379Ala) c.2474A>C (p.Asp825Ala) | |
| X | g.108681811A>G | CA413852091 | COL4A5 | c.4139A>G (p.Asp1380Gly) c.4121A>G (p.Asp1374Gly) n.633A>G n.542A>G c.4130A>G (p.Asp1377Gly) c.3815A>G (p.Asp1272Gly) c.1712A>G (p.Asp571Gly) c.4154A>G (p.Asp1385Gly) c.4145A>G (p.Asp1382Gly) c.4136A>G (p.Asp1379Gly) c.2474A>G (p.Asp825Gly) | |
| X | g.108681811A>T | CA413852094 | COL4A5 | c.4139A>T (p.Asp1380Val) c.4121A>T (p.Asp1374Val) n.633A>T n.542A>T c.4130A>T (p.Asp1377Val) c.3815A>T (p.Asp1272Val) c.1712A>T (p.Asp571Val) c.4154A>T (p.Asp1385Val) c.4145A>T (p.Asp1382Val) c.4136A>T (p.Asp1379Val) c.2474A>T (p.Asp825Val) | |
| X | g.108681812T>A | CA413852100 | COL4A5 | c.4140T>A (p.Asp1380Glu) c.4122T>A (p.Asp1374Glu) n.634T>A n.543T>A c.4131T>A (p.Asp1377Glu) c.3816T>A (p.Asp1272Glu) c.1713T>A (p.Asp571Glu) c.4155T>A (p.Asp1385Glu) c.4146T>A (p.Asp1382Glu) c.4137T>A (p.Asp1379Glu) c.2475T>A (p.Asp825Glu) | |
| X | g.108681812T>C | CA517923823 | COL4A5 | c.4140T>C (p.Asp1380=) c.4122T>C (p.Asp1374=) n.634T>C n.543T>C c.4131T>C (p.Asp1377=) c.3816T>C (p.Asp1272=) c.1713T>C (p.Asp571=) c.4155T>C (p.Asp1385=) c.4146T>C (p.Asp1382=) c.4137T>C (p.Asp1379=) c.2475T>C (p.Asp825=) | |
| X | g.108681812T>G | CA413852103 | COL4A5 | c.4140T>G (p.Asp1380Glu) c.4122T>G (p.Asp1374Glu) n.634T>G n.543T>G c.4131T>G (p.Asp1377Glu) c.3816T>G (p.Asp1272Glu) c.1713T>G (p.Asp571Glu) c.4155T>G (p.Asp1385Glu) c.4146T>G (p.Asp1382Glu) c.4137T>G (p.Asp1379Glu) c.2475T>G (p.Asp825Glu) | |
| X | g.108681813G>A | CA413852104 | COL4A5 | c.4141G>A (p.Ala1381Thr) c.4123G>A (p.Ala1375Thr) n.635G>A n.544G>A c.4132G>A (p.Ala1378Thr) c.3817G>A (p.Ala1273Thr) c.1714G>A (p.Ala572Thr) c.4156G>A (p.Ala1386Thr) c.4147G>A (p.Ala1383Thr) c.4138G>A (p.Ala1380Thr) c.2476G>A (p.Ala826Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108681813G>C | CA413852106 | COL4A5 | c.4141G>C (p.Ala1381Pro) c.4123G>C (p.Ala1375Pro) n.635G>C n.544G>C c.4132G>C (p.Ala1378Pro) c.3817G>C (p.Ala1273Pro) c.1714G>C (p.Ala572Pro) c.4156G>C (p.Ala1386Pro) c.4147G>C (p.Ala1383Pro) c.4138G>C (p.Ala1380Pro) c.2476G>C (p.Ala826Pro) | |
| X | g.108681813G= | CA2450717228 | COL4A5 | c.4141G= (p.Ala1381=) c.4123G= (p.Ala1375=) n.635G= n.544G= c.4132G= (p.Ala1378=) c.3817G= (p.Ala1273=) c.1714G= (p.Ala572=) c.4156G= (p.Ala1386=) c.4147G= (p.Ala1383=) c.4138G= (p.Ala1380=) c.2476G= (p.Ala826=) | |
| X | g.108681813G>T | CA413852113 | COL4A5 | c.4141G>T (p.Ala1381Ser) c.4123G>T (p.Ala1375Ser) n.635G>T n.544G>T c.4132G>T (p.Ala1378Ser) c.3817G>T (p.Ala1273Ser) c.1714G>T (p.Ala572Ser) c.4156G>T (p.Ala1386Ser) c.4147G>T (p.Ala1383Ser) c.4138G>T (p.Ala1380Ser) c.2476G>T (p.Ala826Ser) | COSMIC |
| X | g.108681814C>A | CA413852117 | COL4A5 | c.4142C>A (p.Ala1381Asp) c.4124C>A (p.Ala1375Asp) n.636C>A n.545C>A c.4133C>A (p.Ala1378Asp) c.3818C>A (p.Ala1273Asp) c.1715C>A (p.Ala572Asp) c.4157C>A (p.Ala1386Asp) c.4148C>A (p.Ala1383Asp) c.4139C>A (p.Ala1380Asp) c.2477C>A (p.Ala826Asp) | |
| X | g.108681814C>G | CA413852120 | COL4A5 | c.4142C>G (p.Ala1381Gly) c.4124C>G (p.Ala1375Gly) n.636C>G n.545C>G c.4133C>G (p.Ala1378Gly) c.3818C>G (p.Ala1273Gly) c.1715C>G (p.Ala572Gly) c.4157C>G (p.Ala1386Gly) c.4148C>G (p.Ala1383Gly) c.4139C>G (p.Ala1380Gly) c.2477C>G (p.Ala826Gly) | |
| X | g.108681814C>T | CA413852116 | COL4A5 | c.4142C>T (p.Ala1381Val) c.4124C>T (p.Ala1375Val) n.636C>T n.545C>T c.4133C>T (p.Ala1378Val) c.3818C>T (p.Ala1273Val) c.1715C>T (p.Ala572Val) c.4157C>T (p.Ala1386Val) c.4148C>T (p.Ala1383Val) c.4139C>T (p.Ala1380Val) c.2477C>T (p.Ala826Val) | |
| X | g.108681815T>A | CA517923826 | COL4A5 | c.4143T>A (p.Ala1381=) c.4125T>A (p.Ala1375=) n.637T>A n.546T>A c.4134T>A (p.Ala1378=) c.3819T>A (p.Ala1273=) c.1716T>A (p.Ala572=) c.4158T>A (p.Ala1386=) c.4149T>A (p.Ala1383=) c.4140T>A (p.Ala1380=) c.2478T>A (p.Ala826=) | |
| X | g.108681815T>C | CA517923825 | COL4A5 | c.4143T>C (p.Ala1381=) c.4125T>C (p.Ala1375=) n.637T>C n.546T>C c.4134T>C (p.Ala1378=) c.3819T>C (p.Ala1273=) c.1716T>C (p.Ala572=) c.4158T>C (p.Ala1386=) c.4149T>C (p.Ala1383=) c.4140T>C (p.Ala1380=) c.2478T>C (p.Ala826=) | |
| X | g.108681815T>G | CA517923824 | COL4A5 | c.4143T>G (p.Ala1381=) c.4125T>G (p.Ala1375=) n.637T>G n.546T>G c.4134T>G (p.Ala1378=) c.3819T>G (p.Ala1273=) c.1716T>G (p.Ala572=) c.4158T>G (p.Ala1386=) c.4149T>G (p.Ala1383=) c.4140T>G (p.Ala1380=) c.2478T>G (p.Ala826=) | |
| X | g.108681816G>A | CA413852122 | COL4A5 | c.4144G>A (p.Gly1382Ser) c.4126G>A (p.Gly1376Ser) n.638G>A n.547G>A c.4135G>A (p.Gly1379Ser) c.3820G>A (p.Gly1274Ser) c.1717G>A (p.Gly573Ser) c.4159G>A (p.Gly1387Ser) c.4150G>A (p.Gly1384Ser) c.4141G>A (p.Gly1381Ser) c.2479G>A (p.Gly827Ser) | |
| X | g.108681816G>C | CA413852123 | COL4A5 | c.4144G>C (p.Gly1382Arg) c.4126G>C (p.Gly1376Arg) n.638G>C n.547G>C c.4135G>C (p.Gly1379Arg) c.3820G>C (p.Gly1274Arg) c.1717G>C (p.Gly573Arg) c.4159G>C (p.Gly1387Arg) c.4150G>C (p.Gly1384Arg) c.4141G>C (p.Gly1381Arg) c.2479G>C (p.Gly827Arg) | |
| X | g.108681816G>T | CA413852126 | COL4A5 | c.4144G>T (p.Gly1382Cys) c.4126G>T (p.Gly1376Cys) n.638G>T n.547G>T c.4135G>T (p.Gly1379Cys) c.3820G>T (p.Gly1274Cys) c.1717G>T (p.Gly573Cys) c.4159G>T (p.Gly1387Cys) c.4150G>T (p.Gly1384Cys) c.4141G>T (p.Gly1381Cys) c.2479G>T (p.Gly827Cys) | COSMIC |
| X | g.108681817G>A | CA413852128 | COL4A5 | c.4145G>A (p.Gly1382Asp) c.4127G>A (p.Gly1376Asp) n.639G>A n.548G>A c.4136G>A (p.Gly1379Asp) c.3821G>A (p.Gly1274Asp) c.1718G>A (p.Gly573Asp) c.4160G>A (p.Gly1387Asp) c.4151G>A (p.Gly1384Asp) c.4142G>A (p.Gly1381Asp) c.2480G>A (p.Gly827Asp) | ClinVar |
| X | g.108681817G>C | CA413852129 | COL4A5 | c.4145G>C (p.Gly1382Ala) c.4127G>C (p.Gly1376Ala) n.639G>C n.548G>C c.4136G>C (p.Gly1379Ala) c.3821G>C (p.Gly1274Ala) c.1718G>C (p.Gly573Ala) c.4160G>C (p.Gly1387Ala) c.4151G>C (p.Gly1384Ala) c.4142G>C (p.Gly1381Ala) c.2480G>C (p.Gly827Ala) | ClinVar dbSNP |
| X | g.108681817G>T | CA413852135 | COL4A5 | c.4145G>T (p.Gly1382Val) c.4127G>T (p.Gly1376Val) n.639G>T n.548G>T c.4136G>T (p.Gly1379Val) c.3821G>T (p.Gly1274Val) c.1718G>T (p.Gly573Val) c.4160G>T (p.Gly1387Val) c.4151G>T (p.Gly1384Val) c.4142G>T (p.Gly1381Val) c.2480G>T (p.Gly827Val) | |
| X | g.108681818T>A | CA517923827 | COL4A5 | c.4146T>A (p.Gly1382=) c.4128T>A (p.Gly1376=) n.640T>A n.549T>A c.4137T>A (p.Gly1379=) c.3822T>A (p.Gly1274=) c.1719T>A (p.Gly573=) c.4161T>A (p.Gly1387=) c.4152T>A (p.Gly1384=) c.4143T>A (p.Gly1381=) c.2481T>A (p.Gly827=) | |
| X | g.108681818T>C | CA517923829 | COL4A5 | c.4146T>C (p.Gly1382=) c.4128T>C (p.Gly1376=) n.640T>C n.549T>C c.4137T>C (p.Gly1379=) c.3822T>C (p.Gly1274=) c.1719T>C (p.Gly573=) c.4161T>C (p.Gly1387=) c.4152T>C (p.Gly1384=) c.4143T>C (p.Gly1381=) c.2481T>C (p.Gly827=) | |
| X | g.108681818T>G | CA517923828 | COL4A5 | c.4146T>G (p.Gly1382=) c.4128T>G (p.Gly1376=) n.640T>G n.549T>G c.4137T>G (p.Gly1379=) c.3822T>G (p.Gly1274=) c.1719T>G (p.Gly573=) c.4161T>G (p.Gly1387=) c.4152T>G (p.Gly1384=) c.4143T>G (p.Gly1381=) c.2481T>G (p.Gly827=) | |
| X | g.108681819C>A | CA413852140 | COL4A5 | c.4147C>A (p.Pro1383Thr) c.4129C>A (p.Pro1377Thr) n.641C>A n.550C>A c.4138C>A (p.Pro1380Thr) c.3823C>A (p.Pro1275Thr) c.1720C>A (p.Pro574Thr) c.4162C>A (p.Pro1388Thr) c.4153C>A (p.Pro1385Thr) c.4144C>A (p.Pro1382Thr) c.2482C>A (p.Pro828Thr) | |
| X | g.108681819C>G | CA413852141 | COL4A5 | c.4147C>G (p.Pro1383Ala) c.4129C>G (p.Pro1377Ala) n.641C>G n.550C>G c.4138C>G (p.Pro1380Ala) c.3823C>G (p.Pro1275Ala) c.1720C>G (p.Pro574Ala) c.4162C>G (p.Pro1388Ala) c.4153C>G (p.Pro1385Ala) c.4144C>G (p.Pro1382Ala) c.2482C>G (p.Pro828Ala) | |
| X | g.108681819C>T | CA413852142 | COL4A5 | c.4147C>T (p.Pro1383Ser) c.4129C>T (p.Pro1377Ser) n.641C>T n.550C>T c.4138C>T (p.Pro1380Ser) c.3823C>T (p.Pro1275Ser) c.1720C>T (p.Pro574Ser) c.4162C>T (p.Pro1388Ser) c.4153C>T (p.Pro1385Ser) c.4144C>T (p.Pro1382Ser) c.2482C>T (p.Pro828Ser) | |
| X | g.108681820C>A | CA10489297 | COL4A5 | c.4148C>A (p.Pro1383His) c.4130C>A (p.Pro1377His) n.642C>A n.551C>A c.4139C>A (p.Pro1380His) c.3824C>A (p.Pro1275His) c.1721C>A (p.Pro574His) c.4163C>A (p.Pro1388His) c.4154C>A (p.Pro1385His) c.4145C>A (p.Pro1382His) c.2483C>A (p.Pro828His) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.108681820C= | CA2450717229 | COL4A5 | c.4148C= (p.Pro1383=) c.4130C= (p.Pro1377=) n.642C= n.551C= c.4139C= (p.Pro1380=) c.3824C= (p.Pro1275=) c.1721C= (p.Pro574=) c.4163C= (p.Pro1388=) c.4154C= (p.Pro1385=) c.4145C= (p.Pro1382=) c.2483C= (p.Pro828=) | |
| X | g.108681820C>G | CA413852145 | COL4A5 | c.4148C>G (p.Pro1383Arg) c.4130C>G (p.Pro1377Arg) n.642C>G n.551C>G c.4139C>G (p.Pro1380Arg) c.3824C>G (p.Pro1275Arg) c.1721C>G (p.Pro574Arg) c.4163C>G (p.Pro1388Arg) c.4154C>G (p.Pro1385Arg) c.4145C>G (p.Pro1382Arg) c.2483C>G (p.Pro828Arg) | gnomAD v4 |
| X | g.108681820C>T | CA10489298 | COL4A5 | c.4148C>T (p.Pro1383Leu) c.4130C>T (p.Pro1377Leu) n.642C>T n.551C>T c.4139C>T (p.Pro1380Leu) c.3824C>T (p.Pro1275Leu) c.1721C>T (p.Pro574Leu) c.4163C>T (p.Pro1388Leu) c.4154C>T (p.Pro1385Leu) c.4145C>T (p.Pro1382Leu) c.2483C>T (p.Pro828Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |