| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108622707_108622759del | CA2566557330 | COL4A5 | c.2799_2851del (p.Pro934SerfsTer?) n.2255_2307del c.32_84del c.2475_2527del (p.Pro826SerfsTer?) c.372_424del (p.Pro125SerfsTer?) c.2814_2866del (p.Pro939SerfsTer?) c.1134_1186del (p.Pro379SerfsTer?) | |
| X | g.108622759C>A | CA413852800 | COL4A5 | c.2851C>A (p.Pro951Thr) n.2307C>A c.84C>A c.2527C>A (p.Pro843Thr) c.424C>A (p.Pro142Thr) c.2866C>A (p.Pro956Thr) c.1186C>A (p.Pro396Thr) | |
| X | g.108622759C>G | CA413852801 | COL4A5 | c.2851C>G (p.Pro951Ala) n.2307C>G c.84C>G c.2527C>G (p.Pro843Ala) c.424C>G (p.Pro142Ala) c.2866C>G (p.Pro956Ala) c.1186C>G (p.Pro396Ala) | |
| X | g.108622759C>T | CA413852802 | COL4A5 | c.2851C>T (p.Pro951Ser) n.2307C>T c.84C>T c.2527C>T (p.Pro843Ser) c.424C>T (p.Pro142Ser) c.2866C>T (p.Pro956Ser) c.1186C>T (p.Pro396Ser) | |
| X | g.108622760C>A | CA413852804 | COL4A5 | c.2852C>A (p.Pro951His) n.2308C>A c.85C>A c.2528C>A (p.Pro843His) c.425C>A (p.Pro142His) c.2867C>A (p.Pro956His) c.1187C>A (p.Pro396His) | |
| X | g.108622760C>G | CA413852805 | COL4A5 | c.2852C>G (p.Pro951Arg) n.2308C>G c.85C>G c.2528C>G (p.Pro843Arg) c.425C>G (p.Pro142Arg) c.2867C>G (p.Pro956Arg) c.1187C>G (p.Pro396Arg) | gnomAD v4 |
| X | g.108622760C>T | CA413852803 | COL4A5 | c.2852C>T (p.Pro951Leu) n.2308C>T c.85C>T c.2528C>T (p.Pro843Leu) c.425C>T (p.Pro142Leu) c.2867C>T (p.Pro956Leu) c.1187C>T (p.Pro396Leu) | |
| X | g.108622761T>A | CA517924778 | COL4A5 | c.2853T>A (p.Pro951=) n.2309T>A c.86T>A c.2529T>A (p.Pro843=) c.426T>A (p.Pro142=) c.2868T>A (p.Pro956=) c.1188T>A (p.Pro396=) | |
| X | g.108622761T>C | CA334050734 | COL4A5 | c.2853T>C (p.Pro951=) n.2309T>C c.86T>C c.2529T>C (p.Pro843=) c.426T>C (p.Pro142=) c.2868T>C (p.Pro956=) c.1188T>C (p.Pro396=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108622761T>G | CA517924779 | COL4A5 | c.2853T>G (p.Pro951=) n.2309T>G c.86T>G c.2529T>G (p.Pro843=) c.426T>G (p.Pro142=) c.2868T>G (p.Pro956=) c.1188T>G (p.Pro396=) | |
| X | g.108622761T= | CA2450696878 | COL4A5 | c.2853T= (p.Pro951=) n.2309T= c.86T= c.2529T= (p.Pro843=) c.426T= (p.Pro142=) c.2868T= (p.Pro956=) c.1188T= (p.Pro396=) | |
| X | g.108622762C>A | CA413852806 | COL4A5 | c.2854C>A (p.Pro952Thr) n.2310C>A c.87C>A c.2530C>A (p.Pro844Thr) c.427C>A (p.Pro143Thr) c.2869C>A (p.Pro957Thr) c.1189C>A (p.Pro397Thr) | |
| X | g.108622762C= | CA2450696879 | COL4A5 | c.2854C= (p.Pro952=) n.2310C= c.87C= c.2530C= (p.Pro844=) c.427C= (p.Pro143=) c.2869C= (p.Pro957=) c.1189C= (p.Pro397=) | |
| X | g.108622762C>G | CA413852807 | COL4A5 | c.2854C>G (p.Pro952Ala) n.2310C>G c.87C>G c.2530C>G (p.Pro844Ala) c.427C>G (p.Pro143Ala) c.2869C>G (p.Pro957Ala) c.1189C>G (p.Pro397Ala) | dbSNP gnomAD v4 |
| X | g.108622762C>T | CA413852808 | COL4A5 | c.2854C>T (p.Pro952Ser) n.2310C>T c.87C>T c.2530C>T (p.Pro844Ser) c.427C>T (p.Pro143Ser) c.2869C>T (p.Pro957Ser) c.1189C>T (p.Pro397Ser) | |
| X | g.108622763C>A | CA413852809 | COL4A5 | c.2855C>A (p.Pro952His) n.2311C>A c.88C>A c.2531C>A (p.Pro844His) c.428C>A (p.Pro143His) c.2870C>A (p.Pro957His) c.1190C>A (p.Pro397His) | |
| X | g.108622763C>G | CA413852810 | COL4A5 | c.2855C>G (p.Pro952Arg) n.2311C>G c.88C>G c.2531C>G (p.Pro844Arg) c.428C>G (p.Pro143Arg) c.2870C>G (p.Pro957Arg) c.1190C>G (p.Pro397Arg) | |
| X | g.108622763C>T | CA413852811 | COL4A5 | c.2855C>T (p.Pro952Leu) n.2311C>T c.88C>T c.2531C>T (p.Pro844Leu) c.428C>T (p.Pro143Leu) c.2870C>T (p.Pro957Leu) c.1190C>T (p.Pro397Leu) | COSMIC COSMIC |
| X | g.108622764del | CA2499226321 | COL4A5 | c.2856del (p.Gly953AspfsTer?) n.2312del c.89del c.2532del (p.Gly845AspfsTer?) c.429del (p.Gly144AspfsTer?) c.2871del (p.Gly958AspfsTer?) c.1191del (p.Gly398AspfsTer?) | ClinVar dbSNP |
| X | g.108622764T>A | CA517924780 | COL4A5 | c.2856T>A (p.Pro952=) n.2312T>A c.89T>A c.2532T>A (p.Pro844=) c.429T>A (p.Pro143=) c.2871T>A (p.Pro957=) c.1191T>A (p.Pro397=) | |
| X | g.108622764T>C | CA517924781 | COL4A5 | c.2856T>C (p.Pro952=) n.2312T>C c.89T>C c.2532T>C (p.Pro844=) c.429T>C (p.Pro143=) c.2871T>C (p.Pro957=) c.1191T>C (p.Pro397=) | |
| X | g.108622764T>G | CA517924782 | COL4A5 | c.2856T>G (p.Pro952=) n.2312T>G c.89T>G c.2532T>G (p.Pro844=) c.429T>G (p.Pro143=) c.2871T>G (p.Pro957=) c.1191T>G (p.Pro397=) | |
| X | g.108622765G>A | CA413852813 | COL4A5 | c.2857G>A (p.Gly953Arg) n.2313G>A c.90G>A c.2533G>A (p.Gly845Arg) c.430G>A (p.Gly144Arg) c.2872G>A (p.Gly958Arg) c.1192G>A (p.Gly398Arg) | |
| X | g.108622765G>C | CA413852815 | COL4A5 | c.2857G>C (p.Gly953Arg) n.2313G>C c.90G>C c.2533G>C (p.Gly845Arg) c.430G>C (p.Gly144Arg) c.2872G>C (p.Gly958Arg) c.1192G>C (p.Gly398Arg) | |
| X | g.108622765G>T | CA413852818 | COL4A5 | c.2857G>T (p.Gly953Ter) n.2313G>T c.90G>T c.2533G>T (p.Gly845Ter) c.430G>T (p.Gly144Ter) c.2872G>T (p.Gly958Ter) c.1192G>T (p.Gly398Ter) | gnomAD v4 |
| X | g.108622766G>A | CA413852821 | COL4A5 | c.2858G>A (p.Gly953Glu) n.2314G>A c.91G>A c.2534G>A (p.Gly845Glu) c.431G>A (p.Gly144Glu) c.2873G>A (p.Gly958Glu) c.1193G>A (p.Gly398Glu) | gnomAD v4 |
| X | g.108622766G>C | CA413852823 | COL4A5 | c.2858G>C (p.Gly953Ala) n.2314G>C c.91G>C c.2534G>C (p.Gly845Ala) c.431G>C (p.Gly144Ala) c.2873G>C (p.Gly958Ala) c.1193G>C (p.Gly398Ala) | |
| X | g.108622766G= | CA2450696880 | COL4A5 | c.2858G= (p.Gly953=) n.2314G= c.91G= c.2534G= (p.Gly845=) c.431G= (p.Gly144=) c.2873G= (p.Gly958=) c.1193G= (p.Gly398=) | |
| X | g.108622766G>T | CA258777 | COL4A5 | c.2858G>T (p.Gly953Val) n.2314G>T c.91G>T c.2534G>T (p.Gly845Val) c.431G>T (p.Gly144Val) c.2873G>T (p.Gly958Val) c.1193G>T (p.Gly398Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108622767A>C | CA517924783 | COL4A5 | c.2859A>C (p.Gly953=) n.2315A>C c.92A>C c.2535A>C (p.Gly845=) c.432A>C (p.Gly144=) c.2874A>C (p.Gly958=) c.1194A>C (p.Gly398=) | |
| X | g.108622767A>G | CA517924784 | COL4A5 | c.2859A>G (p.Gly953=) n.2315A>G c.92A>G c.2535A>G (p.Gly845=) c.432A>G (p.Gly144=) c.2874A>G (p.Gly958=) c.1194A>G (p.Gly398=) | ClinVar |
| X | g.108622767A>T | CA517924785 | COL4A5 | c.2859A>T (p.Gly953=) n.2315A>T c.92A>T c.2535A>T (p.Gly845=) c.432A>T (p.Gly144=) c.2874A>T (p.Gly958=) c.1194A>T (p.Gly398=) | |
| X | g.108622768C>A | CA413852830 | COL4A5 | c.2860C>A (p.Pro954Thr) n.2316C>A c.93C>A c.2536C>A (p.Pro846Thr) c.433C>A (p.Pro145Thr) c.2875C>A (p.Pro959Thr) c.1195C>A (p.Pro399Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108622768C= | CA2450696881 | COL4A5 | c.2860C= (p.Pro954=) n.2316C= c.93C= c.2536C= (p.Pro846=) c.433C= (p.Pro145=) c.2875C= (p.Pro959=) c.1195C= (p.Pro399=) | |
| X | g.108622768C>G | CA413852826 | COL4A5 | c.2860C>G (p.Pro954Ala) n.2316C>G c.93C>G c.2536C>G (p.Pro846Ala) c.433C>G (p.Pro145Ala) c.2875C>G (p.Pro959Ala) c.1195C>G (p.Pro399Ala) | |
| X | g.108622768C>T | CA413852828 | COL4A5 | c.2860C>T (p.Pro954Ser) n.2316C>T c.93C>T c.2536C>T (p.Pro846Ser) c.433C>T (p.Pro145Ser) c.2875C>T (p.Pro959Ser) c.1195C>T (p.Pro399Ser) | |
| X | g.108622769dup | CA2695235225 | COL4A5 | c.2861dup (p.Met955AsnfsTer?) n.2317dup c.94dup c.2537dup (p.Met847AsnfsTer?) c.434dup (p.Met146AsnfsTer?) c.2876dup (p.Met960AsnfsTer?) c.1196dup (p.Met400AsnfsTer?) | |
| X | g.108622769C>A | CA413852832 | COL4A5 | c.2861C>A (p.Pro954Gln) n.2317C>A c.94C>A c.2537C>A (p.Pro846Gln) c.434C>A (p.Pro145Gln) c.2876C>A (p.Pro959Gln) c.1196C>A (p.Pro399Gln) | gnomAD v4 |
| X | g.108622769C>G | CA413852834 | COL4A5 | c.2861C>G (p.Pro954Arg) n.2317C>G c.94C>G c.2537C>G (p.Pro846Arg) c.434C>G (p.Pro145Arg) c.2876C>G (p.Pro959Arg) c.1196C>G (p.Pro399Arg) | |
| X | g.108622769C>T | CA413852836 | COL4A5 | c.2861C>T (p.Pro954Leu) n.2317C>T c.94C>T c.2537C>T (p.Pro846Leu) c.434C>T (p.Pro145Leu) c.2876C>T (p.Pro959Leu) c.1196C>T (p.Pro399Leu) | |
| X | g.108622770A>C | CA517924788 | COL4A5 | c.2862A>C (p.Pro954=) n.2318A>C c.95A>C c.2538A>C (p.Pro846=) c.435A>C (p.Pro145=) c.2877A>C (p.Pro959=) c.1197A>C (p.Pro399=) | |
| X | g.108622770A>G | CA517924787 | COL4A5 | c.2862A>G (p.Pro954=) n.2318A>G c.95A>G c.2538A>G (p.Pro846=) c.435A>G (p.Pro145=) c.2877A>G (p.Pro959=) c.1197A>G (p.Pro399=) | |
| X | g.108622770A>T | CA517924786 | COL4A5 | c.2862A>T (p.Pro954=) n.2318A>T c.95A>T c.2538A>T (p.Pro846=) c.435A>T (p.Pro145=) c.2877A>T (p.Pro959=) c.1197A>T (p.Pro399=) | |
| X | g.108622771A>C | CA413852838 | COL4A5 | c.2863A>C (p.Met955Leu) n.2319A>C c.96A>C c.2539A>C (p.Met847Leu) c.436A>C (p.Met146Leu) c.2878A>C (p.Met960Leu) c.1198A>C (p.Met400Leu) | gnomAD v4 |
| X | g.108622771A>G | CA413852840 | COL4A5 | c.2863A>G (p.Met955Val) n.2319A>G c.96A>G c.2539A>G (p.Met847Val) c.436A>G (p.Met146Val) c.2878A>G (p.Met960Val) c.1198A>G (p.Met400Val) | |
| X | g.108622771A>T | CA413852842 | COL4A5 | c.2863A>T (p.Met955Leu) n.2319A>T c.96A>T c.2539A>T (p.Met847Leu) c.436A>T (p.Met146Leu) c.2878A>T (p.Met960Leu) c.1198A>T (p.Met400Leu) | |
| X | g.108622772T>A | CA413852844 | COL4A5 | c.2864T>A (p.Met955Lys) n.2320T>A c.97T>A c.2540T>A (p.Met847Lys) c.437T>A (p.Met146Lys) c.2879T>A (p.Met960Lys) c.1199T>A (p.Met400Lys) | |
| X | g.108622772T>C | CA413852846 | COL4A5 | c.2864T>C (p.Met955Thr) n.2320T>C c.97T>C c.2540T>C (p.Met847Thr) c.437T>C (p.Met146Thr) c.2879T>C (p.Met960Thr) c.1199T>C (p.Met400Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108622772T>G | CA413852848 | COL4A5 | c.2864T>G (p.Met955Arg) n.2320T>G c.97T>G c.2540T>G (p.Met847Arg) c.437T>G (p.Met146Arg) c.2879T>G (p.Met960Arg) c.1199T>G (p.Met400Arg) | |
| X | g.108622772T= | CA2450696882 | COL4A5 | c.2864T= (p.Met955=) n.2320T= c.97T= c.2540T= (p.Met847=) c.437T= (p.Met146=) c.2879T= (p.Met960=) c.1199T= (p.Met400=) | |
| X | g.108622773G>A | CA413852851 | COL4A5 | c.2865G>A (p.Met955Ile) n.2321G>A c.98G>A c.2541G>A (p.Met847Ile) c.438G>A (p.Met146Ile) c.2880G>A (p.Met960Ile) c.1200G>A (p.Met400Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.108622773G>C | CA413852852 | COL4A5 | c.2865G>C (p.Met955Ile) n.2321G>C c.98G>C c.2541G>C (p.Met847Ile) c.438G>C (p.Met146Ile) c.2880G>C (p.Met960Ile) c.1200G>C (p.Met400Ile) | |
| X | g.108622773G= | CA2450696883 | COL4A5 | c.2865G= (p.Met955=) n.2321G= c.98G= c.2541G= (p.Met847=) c.438G= (p.Met146=) c.2880G= (p.Met960=) c.1200G= (p.Met400=) | |
| X | g.108622773G>T | CA413852854 | COL4A5 | c.2865G>T (p.Met955Ile) n.2321G>T c.98G>T c.2541G>T (p.Met847Ile) c.438G>T (p.Met146Ile) c.2880G>T (p.Met960Ile) c.1200G>T (p.Met400Ile) | |
| X | g.108622774G>A | CA413852858 | COL4A5 | c.2866G>A (p.Asp956Asn) n.2322G>A c.99G>A c.2542G>A (p.Asp848Asn) c.439G>A (p.Asp147Asn) c.2881G>A (p.Asp961Asn) c.1201G>A (p.Asp401Asn) | |
| X | g.108622774G>C | CA413852860 | COL4A5 | c.2866G>C (p.Asp956His) n.2322G>C c.99G>C c.2542G>C (p.Asp848His) c.439G>C (p.Asp147His) c.2881G>C (p.Asp961His) c.1201G>C (p.Asp401His) | |
| X | g.108622774G>T | CA413852857 | COL4A5 | c.2866G>T (p.Asp956Tyr) n.2322G>T c.99G>T c.2542G>T (p.Asp848Tyr) c.439G>T (p.Asp147Tyr) c.2881G>T (p.Asp961Tyr) c.1201G>T (p.Asp401Tyr) | gnomAD v4 |
| X | g.108622775A>C | CA413852863 | COL4A5 | c.2867A>C (p.Asp956Ala) n.2323A>C c.100A>C c.2543A>C (p.Asp848Ala) c.440A>C (p.Asp147Ala) c.2882A>C (p.Asp961Ala) c.1202A>C (p.Asp401Ala) | |
| X | g.108622775A>G | CA413852864 | COL4A5 | c.2867A>G (p.Asp956Gly) n.2323A>G c.100A>G c.2543A>G (p.Asp848Gly) c.440A>G (p.Asp147Gly) c.2882A>G (p.Asp961Gly) c.1202A>G (p.Asp401Gly) | |
| X | g.108622775A>T | CA413852865 | COL4A5 | c.2867A>T (p.Asp956Val) n.2323A>T c.100A>T c.2543A>T (p.Asp848Val) c.440A>T (p.Asp147Val) c.2882A>T (p.Asp961Val) c.1202A>T (p.Asp401Val) | |
| X | g.108622776T>A | CA413852867 | COL4A5 | c.2868T>A (p.Asp956Glu) n.2324T>A c.101T>A c.2544T>A (p.Asp848Glu) c.441T>A (p.Asp147Glu) c.2883T>A (p.Asp961Glu) c.1203T>A (p.Asp401Glu) | |
| X | g.108622776T>C | CA517924789 | COL4A5 | c.2868T>C (p.Asp956=) n.2324T>C c.101T>C c.2544T>C (p.Asp848=) c.441T>C (p.Asp147=) c.2883T>C (p.Asp961=) c.1203T>C (p.Asp401=) | |
| X | g.108622776T>G | CA413852869 | COL4A5 | c.2868T>G (p.Asp956Glu) n.2324T>G c.101T>G c.2544T>G (p.Asp848Glu) c.441T>G (p.Asp147Glu) c.2883T>G (p.Asp961Glu) c.1203T>G (p.Asp401Glu) | |
| X | g.108622777C>A | CA413852876 | COL4A5 | c.2869C>A (p.Pro957Thr) n.2325C>A c.102C>A c.2545C>A (p.Pro849Thr) c.442C>A (p.Pro148Thr) c.2884C>A (p.Pro962Thr) c.1204C>A (p.Pro402Thr) | |
| X | g.108622777C>G | CA413852874 | COL4A5 | c.2869C>G (p.Pro957Ala) n.2325C>G c.102C>G c.2545C>G (p.Pro849Ala) c.442C>G (p.Pro148Ala) c.2884C>G (p.Pro962Ala) c.1204C>G (p.Pro402Ala) | |
| X | g.108622777C>T | CA413852872 | COL4A5 | c.2869C>T (p.Pro957Ser) n.2325C>T c.102C>T c.2545C>T (p.Pro849Ser) c.442C>T (p.Pro148Ser) c.2884C>T (p.Pro962Ser) c.1204C>T (p.Pro402Ser) | |
| X | g.108622778C>A | CA413852878 | COL4A5 | c.2870C>A (p.Pro957Gln) n.2326C>A c.103C>A c.2546C>A (p.Pro849Gln) c.443C>A (p.Pro148Gln) c.2885C>A (p.Pro962Gln) c.1205C>A (p.Pro402Gln) | dbSNP |
| X | g.108622778C= | CA2450696884 | COL4A5 | c.2870C= (p.Pro957=) n.2326C= c.103C= c.2546C= (p.Pro849=) c.443C= (p.Pro148=) c.2885C= (p.Pro962=) c.1205C= (p.Pro402=) | |
| X | g.108622778C>G | CA413852880 | COL4A5 | c.2870C>G (p.Pro957Arg) n.2326C>G c.103C>G c.2546C>G (p.Pro849Arg) c.443C>G (p.Pro148Arg) c.2885C>G (p.Pro962Arg) c.1205C>G (p.Pro402Arg) | |
| X | g.108622778C>T | CA413852881 | COL4A5 | c.2870C>T (p.Pro957Leu) n.2326C>T c.103C>T c.2546C>T (p.Pro849Leu) c.443C>T (p.Pro148Leu) c.2885C>T (p.Pro962Leu) c.1205C>T (p.Pro402Leu) | |
| X | g.108622779A>C | CA517924790 | COL4A5 | c.2871A>C (p.Pro957=) n.2327A>C c.104A>C c.2547A>C (p.Pro849=) c.444A>C (p.Pro148=) c.2886A>C (p.Pro962=) c.1206A>C (p.Pro402=) | |
| X | g.108622779A>G | CA517924791 | COL4A5 | c.2871A>G (p.Pro957=) n.2327A>G c.104A>G c.2547A>G (p.Pro849=) c.444A>G (p.Pro148=) c.2886A>G (p.Pro962=) c.1206A>G (p.Pro402=) | |
| X | g.108622779A>T | CA517924792 | COL4A5 | c.2871A>T (p.Pro957=) n.2327A>T c.104A>T c.2547A>T (p.Pro849=) c.444A>T (p.Pro148=) c.2886A>T (p.Pro962=) c.1206A>T (p.Pro402=) | |
| X | g.108622780A>C | CA413852884 | COL4A5 | c.2872A>C (p.Asn958His) n.2328A>C c.105A>C c.2548A>C (p.Asn850His) c.445A>C (p.Asn149His) c.2887A>C (p.Asn963His) c.1207A>C (p.Asn403His) | |
| X | g.108622780A>G | CA413852886 | COL4A5 | c.2872A>G (p.Asn958Asp) n.2328A>G c.105A>G c.2548A>G (p.Asn850Asp) c.445A>G (p.Asn149Asp) c.2887A>G (p.Asn963Asp) c.1207A>G (p.Asn403Asp) | |
| X | g.108622780A>T | CA413852888 | COL4A5 | c.2872A>T (p.Asn958Tyr) n.2328A>T c.105A>T c.2548A>T (p.Asn850Tyr) c.445A>T (p.Asn149Tyr) c.2887A>T (p.Asn963Tyr) c.1207A>T (p.Asn403Tyr) | |
| X | g.108622781A>C | CA413852893 | COL4A5 | c.2873A>C (p.Asn958Thr) n.2329A>C c.106A>C c.2549A>C (p.Asn850Thr) c.446A>C (p.Asn149Thr) c.2888A>C (p.Asn963Thr) c.1208A>C (p.Asn403Thr) | |
| X | g.108622781A>G | CA413852890 | COL4A5 | c.2873A>G (p.Asn958Ser) n.2329A>G c.106A>G c.2549A>G (p.Asn850Ser) c.446A>G (p.Asn149Ser) c.2888A>G (p.Asn963Ser) c.1208A>G (p.Asn403Ser) | |
| X | g.108622781A>T | CA413852892 | COL4A5 | c.2873A>T (p.Asn958Ile) n.2329A>T c.106A>T c.2549A>T (p.Asn850Ile) c.446A>T (p.Asn149Ile) c.2888A>T (p.Asn963Ile) c.1208A>T (p.Asn403Ile) | |
| X | g.108622781_108622784delinsATCT | CA2450696885 | COL4A5 | c.2873_2876delinsATCT (p.Asn958=) n.2329_2332delinsATCT c.106_109delinsATCT c.2549_2552delinsATCT (p.Asn850=) c.446_449delinsATCT (p.Asn149=) c.2888_2891delinsATCT (p.Asn963=) c.1208_1211delinsATCT (p.Asn403=) | |
| X | g.108622782T>A | CA413852896 | COL4A5 | c.2874T>A (p.Asn958Lys) n.2330T>A c.107T>A c.2550T>A (p.Asn850Lys) c.447T>A (p.Asn149Lys) c.2889T>A (p.Asn963Lys) c.1209T>A (p.Asn403Lys) | |
| X | g.108622782T>C | CA517924796 | COL4A5 | c.2874T>C (p.Asn958=) n.2330T>C c.107T>C c.2550T>C (p.Asn850=) c.447T>C (p.Asn149=) c.2889T>C (p.Asn963=) c.1209T>C (p.Asn403=) | |
| X | g.108622782T>G | CA413852898 | COL4A5 | c.2874T>G (p.Asn958Lys) n.2330T>G c.107T>G c.2550T>G (p.Asn850Lys) c.447T>G (p.Asn149Lys) c.2889T>G (p.Asn963Lys) c.1209T>G (p.Asn403Lys) | |
| X | g.108622785_108622787del | CA2450696886 | COL4A5 | c.2877_2879del (p.Leu960del) n.2333_2335del c.110_112del c.2553_2555del (p.Leu852del) c.450_452del (p.Leu151del) c.2892_2894del (p.Leu965del) c.1212_1214del (p.Leu405del) | dbSNP gnomAD v4 |
| X | g.108622783C>A | CA413852900 | COL4A5 | c.2875C>A (p.Leu959Ile) n.2331C>A c.108C>A c.2551C>A (p.Leu851Ile) c.448C>A (p.Leu150Ile) c.2890C>A (p.Leu964Ile) c.1210C>A (p.Leu404Ile) | |
| X | g.108622783C>G | CA413852902 | COL4A5 | c.2875C>G (p.Leu959Val) n.2331C>G c.108C>G c.2551C>G (p.Leu851Val) c.448C>G (p.Leu150Val) c.2890C>G (p.Leu964Val) c.1210C>G (p.Leu404Val) | |
| X | g.108622783C>T | CA413852904 | COL4A5 | c.2875C>T (p.Leu959Phe) n.2331C>T c.108C>T c.2551C>T (p.Leu851Phe) c.448C>T (p.Leu150Phe) c.2890C>T (p.Leu964Phe) c.1210C>T (p.Leu404Phe) | |
| X | g.108622784T>A | CA413852906 | COL4A5 | c.2876T>A (p.Leu959His) n.2332T>A c.109T>A c.2552T>A (p.Leu851His) c.449T>A (p.Leu150His) c.2891T>A (p.Leu964His) c.1211T>A (p.Leu404His) | |
| X | g.108622784T>C | CA10488991 | COL4A5 | c.2876T>C (p.Leu959Pro) n.2332T>C c.109T>C c.2552T>C (p.Leu851Pro) c.449T>C (p.Leu150Pro) c.2891T>C (p.Leu964Pro) c.1211T>C (p.Leu404Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108622784T>G | CA413852908 | COL4A5 | c.2876T>G (p.Leu959Arg) n.2332T>G c.109T>G c.2552T>G (p.Leu851Arg) c.449T>G (p.Leu150Arg) c.2891T>G (p.Leu964Arg) c.1211T>G (p.Leu404Arg) | |
| X | g.108622784T= | CA2450696887 | COL4A5 | c.2876T= (p.Leu959=) n.2332T= c.109T= c.2552T= (p.Leu851=) c.449T= (p.Leu150=) c.2891T= (p.Leu964=) c.1211T= (p.Leu404=) | |
| X | g.108622785T>A | CA517924797 | COL4A5 | c.2877T>A (p.Leu959=) n.2333T>A c.110T>A c.2553T>A (p.Leu851=) c.450T>A (p.Leu150=) c.2892T>A (p.Leu964=) c.1212T>A (p.Leu404=) | |
| X | g.108622785T>C | CA517924799 | COL4A5 | c.2877T>C (p.Leu959=) n.2333T>C c.110T>C c.2553T>C (p.Leu851=) c.450T>C (p.Leu150=) c.2892T>C (p.Leu964=) c.1212T>C (p.Leu404=) | |
| X | g.108622785T>G | CA517924800 | COL4A5 | c.2877T>G (p.Leu959=) n.2333T>G c.110T>G c.2553T>G (p.Leu851=) c.450T>G (p.Leu150=) c.2892T>G (p.Leu964=) c.1212T>G (p.Leu404=) | |
| X | g.108622786C>A | CA413852911 | COL4A5 | c.2878C>A (p.Leu960Met) n.2334C>A c.111C>A c.2554C>A (p.Leu852Met) c.451C>A (p.Leu151Met) c.2893C>A (p.Leu965Met) c.1213C>A (p.Leu405Met) | |
| X | g.108622786C>G | CA413852913 | COL4A5 | c.2878C>G (p.Leu960Val) n.2334C>G c.111C>G c.2554C>G (p.Leu852Val) c.451C>G (p.Leu151Val) c.2893C>G (p.Leu965Val) c.1213C>G (p.Leu405Val) | |
| X | g.108622786C>T | CA517924801 | COL4A5 | c.2878C>T (p.Leu960=) n.2334C>T c.111C>T c.2554C>T (p.Leu852=) c.451C>T (p.Leu151=) c.2893C>T (p.Leu965=) c.1213C>T (p.Leu405=) | |
| X | g.108622787T>A | CA413852915 | COL4A5 | c.2879T>A (p.Leu960Gln) n.2335T>A c.112T>A c.2555T>A (p.Leu852Gln) c.452T>A (p.Leu151Gln) c.2894T>A (p.Leu965Gln) c.1214T>A (p.Leu405Gln) | |
| X | g.108622787T>C | CA413852918 | COL4A5 | c.2879T>C (p.Leu960Pro) n.2335T>C c.112T>C c.2555T>C (p.Leu852Pro) c.452T>C (p.Leu151Pro) c.2894T>C (p.Leu965Pro) c.1214T>C (p.Leu405Pro) | |
| X | g.108622787T>G | CA413852920 | COL4A5 | c.2879T>G (p.Leu960Arg) n.2335T>G c.112T>G c.2555T>G (p.Leu852Arg) c.452T>G (p.Leu151Arg) c.2894T>G (p.Leu965Arg) c.1214T>G (p.Leu405Arg) | |
| X | g.108622788G>A | CA517924803 | COL4A5 | c.2880G>A (p.Leu960=) n.2336G>A c.113G>A c.2556G>A (p.Leu852=) c.453G>A (p.Leu151=) c.2895G>A (p.Leu965=) c.1215G>A (p.Leu405=) | |
| X | g.108622788G>C | CA517924804 | COL4A5 | c.2880G>C (p.Leu960=) n.2336G>C c.113G>C c.2556G>C (p.Leu852=) c.453G>C (p.Leu151=) c.2895G>C (p.Leu965=) c.1215G>C (p.Leu405=) | |
| X | g.108622788G>T | CA517924805 | COL4A5 | c.2880G>T (p.Leu960=) n.2336G>T c.113G>T c.2556G>T (p.Leu852=) c.453G>T (p.Leu151=) c.2895G>T (p.Leu965=) c.1215G>T (p.Leu405=) | |
| X | g.108622790del | CA2695235226 | COL4A5 | c.2882del (p.Gly961AlafsTer?) n.2338del c.115del c.2558del (p.Gly853AlafsTer?) c.455del (p.Gly152AlafsTer?) c.2897del (p.Gly966AlafsTer?) c.1217del (p.Gly406AlafsTer?) | |
| X | g.108622789G>A | CA413852922 | COL4A5 | c.2881G>A (p.Gly961Ser) n.2337G>A c.114G>A c.2557G>A (p.Gly853Ser) c.454G>A (p.Gly152Ser) c.2896G>A (p.Gly966Ser) c.1216G>A (p.Gly406Ser) | |
| X | g.108622789G>C | CA413852926 | COL4A5 | c.2881G>C (p.Gly961Arg) n.2337G>C c.114G>C c.2557G>C (p.Gly853Arg) c.454G>C (p.Gly152Arg) c.2896G>C (p.Gly966Arg) c.1216G>C (p.Gly406Arg) | |
| X | g.108622789G>T | CA413852924 | COL4A5 | c.2881G>T (p.Gly961Cys) n.2337G>T c.114G>T c.2557G>T (p.Gly853Cys) c.454G>T (p.Gly152Cys) c.2896G>T (p.Gly966Cys) c.1216G>T (p.Gly406Cys) | |
| X | g.108622790G>A | CA413852928 | COL4A5 | c.2882G>A (p.Gly961Asp) n.2338G>A c.115G>A c.2558G>A (p.Gly853Asp) c.455G>A (p.Gly152Asp) c.2897G>A (p.Gly966Asp) c.1217G>A (p.Gly406Asp) | |
| X | g.108622790G>C | CA413852930 | COL4A5 | c.2882G>C (p.Gly961Ala) n.2338G>C c.115G>C c.2558G>C (p.Gly853Ala) c.455G>C (p.Gly152Ala) c.2897G>C (p.Gly966Ala) c.1217G>C (p.Gly406Ala) | |
| X | g.108622790G= | CA2450696888 | COL4A5 | c.2882G= (p.Gly961=) n.2338G= c.115G= c.2558G= (p.Gly853=) c.455G= (p.Gly152=) c.2897G= (p.Gly966=) c.1217G= (p.Gly406=) | |
| X | g.108622790G>T | CA10488992 | COL4A5 | c.2882G>T (p.Gly961Val) n.2338G>T c.115G>T c.2558G>T (p.Gly853Val) c.455G>T (p.Gly152Val) c.2897G>T (p.Gly966Val) c.1217G>T (p.Gly406Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108622791C>A | CA517924811 | COL4A5 | c.2883C>A (p.Gly961=) n.2339C>A c.116C>A c.2559C>A (p.Gly853=) c.456C>A (p.Gly152=) c.2898C>A (p.Gly966=) c.1218C>A (p.Gly406=) | COSMIC COSMIC |
| X | g.108622791C>G | CA517924809 | COL4A5 | c.2883C>G (p.Gly961=) n.2339C>G c.116C>G c.2559C>G (p.Gly853=) c.456C>G (p.Gly152=) c.2898C>G (p.Gly966=) c.1218C>G (p.Gly406=) | |
| X | g.108622791C>T | CA517924807 | COL4A5 | c.2883C>T (p.Gly961=) n.2339C>T c.116C>T c.2559C>T (p.Gly853=) c.456C>T (p.Gly152=) c.2898C>T (p.Gly966=) c.1218C>T (p.Gly406=) | ClinVar dbSNP |
| X | g.108622792T>A | CA413852933 | COL4A5 | c.2884T>A (p.Ser962Thr) n.2340T>A c.117T>A c.2560T>A (p.Ser854Thr) c.457T>A (p.Ser153Thr) c.2899T>A (p.Ser967Thr) c.1219T>A (p.Ser407Thr) | |
| X | g.108622792T>C | CA413852935 | COL4A5 | c.2884T>C (p.Ser962Pro) n.2340T>C c.117T>C c.2560T>C (p.Ser854Pro) c.457T>C (p.Ser153Pro) c.2899T>C (p.Ser967Pro) c.1219T>C (p.Ser407Pro) | |
| X | g.108622792T>G | CA413852937 | COL4A5 | c.2884T>G (p.Ser962Ala) n.2340T>G c.117T>G c.2560T>G (p.Ser854Ala) c.457T>G (p.Ser153Ala) c.2899T>G (p.Ser967Ala) c.1219T>G (p.Ser407Ala) | |
| X | g.108622793C>A | CA413852940 | COL4A5 | c.2885C>A (p.Ser962Ter) n.2341C>A c.118C>A c.2561C>A (p.Ser854Ter) c.458C>A (p.Ser153Ter) c.2900C>A (p.Ser967Ter) c.1220C>A (p.Ser407Ter) | |
| X | g.108622793C>G | CA413852942 | COL4A5 | c.2885C>G (p.Ser962Ter) n.2341C>G c.118C>G c.2561C>G (p.Ser854Ter) c.458C>G (p.Ser153Ter) c.2900C>G (p.Ser967Ter) c.1220C>G (p.Ser407Ter) | |
| X | g.108622793C>T | CA413852943 | COL4A5 | c.2885C>T (p.Ser962Leu) n.2341C>T c.118C>T c.2561C>T (p.Ser854Leu) c.458C>T (p.Ser153Leu) c.2900C>T (p.Ser967Leu) c.1220C>T (p.Ser407Leu) | |
| X | g.108622794A= | CA2450696889 | COL4A5 | c.2886A= (p.Ser962=) n.2342A= c.119A= c.2562A= (p.Ser854=) c.459A= (p.Ser153=) c.2901A= (p.Ser967=) c.1221A= (p.Ser407=) | |
| X | g.108622794A>C | CA517924812 | COL4A5 | c.2886A>C (p.Ser962=) n.2342A>C c.119A>C c.2562A>C (p.Ser854=) c.459A>C (p.Ser153=) c.2901A>C (p.Ser967=) c.1221A>C (p.Ser407=) | |
| X | g.108622794A>G | CA10488993 | COL4A5 | c.2886A>G (p.Ser962=) n.2342A>G c.119A>G c.2562A>G (p.Ser854=) c.459A>G (p.Ser153=) c.2901A>G (p.Ser967=) c.1221A>G (p.Ser407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108622794A>T | CA517924813 | COL4A5 | c.2886A>T (p.Ser962=) n.2342A>T c.119A>T c.2562A>T (p.Ser854=) c.459A>T (p.Ser153=) c.2901A>T (p.Ser967=) c.1221A>T (p.Ser407=) | |
| X | g.108622797del | CA2540697012 | COL4A5 | c.2889del (p.Gly964GlufsTer?) n.2345del c.122del c.2565del (p.Gly856GlufsTer?) c.462del (p.Gly155GlufsTer?) c.2904del (p.Gly969GlufsTer?) c.1224del (p.Gly409GlufsTer?) | ClinVar |
| X | g.108622795A= | CA2450696890 | COL4A5 | c.2887A= (p.Lys963=) n.2343A= c.120A= c.2563A= (p.Lys855=) c.460A= (p.Lys154=) c.2902A= (p.Lys968=) c.1222A= (p.Lys408=) | |
| X | g.108622795A>C | CA413852945 | COL4A5 | c.2887A>C (p.Lys963Gln) n.2343A>C c.120A>C c.2563A>C (p.Lys855Gln) c.460A>C (p.Lys154Gln) c.2902A>C (p.Lys968Gln) c.1222A>C (p.Lys408Gln) | |
| X | g.108622795A>G | CA413852946 | COL4A5 | c.2887A>G (p.Lys963Glu) n.2343A>G c.120A>G c.2563A>G (p.Lys855Glu) c.460A>G (p.Lys154Glu) c.2902A>G (p.Lys968Glu) c.1222A>G (p.Lys408Glu) | dbSNP gnomAD v4 |
| X | g.108622795A>T | CA413852948 | COL4A5 | c.2887A>T (p.Lys963Ter) n.2343A>T c.120A>T c.2563A>T (p.Lys855Ter) c.460A>T (p.Lys154Ter) c.2902A>T (p.Lys968Ter) c.1222A>T (p.Lys408Ter) | |
| X | g.108622796A>C | CA413852954 | COL4A5 | c.2888A>C (p.Lys963Thr) n.2344A>C c.121A>C c.2564A>C (p.Lys855Thr) c.461A>C (p.Lys154Thr) c.2903A>C (p.Lys968Thr) c.1223A>C (p.Lys408Thr) | COSMIC |
| X | g.108622796A>G | CA413852951 | COL4A5 | c.2888A>G (p.Lys963Arg) n.2344A>G c.121A>G c.2564A>G (p.Lys855Arg) c.461A>G (p.Lys154Arg) c.2903A>G (p.Lys968Arg) c.1223A>G (p.Lys408Arg) | |
| X | g.108622796A>T | CA413852952 | COL4A5 | c.2888A>T (p.Lys963Ile) n.2344A>T c.121A>T c.2564A>T (p.Lys855Ile) c.461A>T (p.Lys154Ile) c.2903A>T (p.Lys968Ile) c.1223A>T (p.Lys408Ile) | |
| X | g.108622800_108622807dup | CA916083992 | COL4A5 | c.2892_2899dup (p.Gly967GlufsTer32) n.2348_2355dup c.125_132dup c.2568_2575dup (p.Gly859GlufsTer32) c.465_472dup (p.Gly158GlufsTer32) c.2907_2914dup (p.Gly972GlufsTer32) c.1227_1234dup (p.Gly412GlufsTer32) | ClinVar dbSNP |
| X | g.108622797A>C | CA413852957 | COL4A5 | c.2889A>C (p.Lys963Asn) n.2345A>C c.122A>C c.2565A>C (p.Lys855Asn) c.462A>C (p.Lys154Asn) c.2904A>C (p.Lys968Asn) c.1224A>C (p.Lys408Asn) | |
| X | g.108622797A>G | CA517924818 | COL4A5 | c.2889A>G (p.Lys963=) n.2345A>G c.122A>G c.2565A>G (p.Lys855=) c.462A>G (p.Lys154=) c.2904A>G (p.Lys968=) c.1224A>G (p.Lys408=) | |
| X | g.108622797A>T | CA413852959 | COL4A5 | c.2889A>T (p.Lys963Asn) n.2345A>T c.122A>T c.2565A>T (p.Lys855Asn) c.462A>T (p.Lys154Asn) c.2904A>T (p.Lys968Asn) c.1224A>T (p.Lys408Asn) | |
| X | g.108622798G>A | CA413852961 | COL4A5 | c.2890G>A (p.Gly964Arg) n.2346G>A c.123G>A c.2566G>A (p.Gly856Arg) c.463G>A (p.Gly155Arg) c.2905G>A (p.Gly969Arg) c.1225G>A (p.Gly409Arg) | gnomAD v4 |
| X | g.108622798G>C | CA413852963 | COL4A5 | c.2890G>C (p.Gly964Arg) n.2346G>C c.123G>C c.2566G>C (p.Gly856Arg) c.463G>C (p.Gly155Arg) c.2905G>C (p.Gly969Arg) c.1225G>C (p.Gly409Arg) | |
| X | g.108622798G>T | CA413852964 | COL4A5 | c.2890G>T (p.Gly964Ter) n.2346G>T c.123G>T c.2566G>T (p.Gly856Ter) c.463G>T (p.Gly155Ter) c.2905G>T (p.Gly969Ter) c.1225G>T (p.Gly409Ter) | |
| X | g.108622799G>A | CA413852966 | COL4A5 | c.2891G>A (p.Gly964Glu) n.2347G>A c.124G>A c.2567G>A (p.Gly856Glu) c.464G>A (p.Gly155Glu) c.2906G>A (p.Gly969Glu) c.1226G>A (p.Gly409Glu) | COSMIC COSMIC |
| X | g.108622799G>C | CA413852968 | COL4A5 | c.2891G>C (p.Gly964Ala) n.2347G>C c.124G>C c.2567G>C (p.Gly856Ala) c.464G>C (p.Gly155Ala) c.2906G>C (p.Gly969Ala) c.1226G>C (p.Gly409Ala) | |
| X | g.108622799G>T | CA413852970 | COL4A5 | c.2891G>T (p.Gly964Val) n.2347G>T c.124G>T c.2567G>T (p.Gly856Val) c.464G>T (p.Gly155Val) c.2906G>T (p.Gly969Val) c.1226G>T (p.Gly409Val) | |
| X | g.108622800A>C | CA517924820 | COL4A5 | c.2892A>C (p.Gly964=) n.2348A>C c.125A>C c.2568A>C (p.Gly856=) c.465A>C (p.Gly155=) c.2907A>C (p.Gly969=) c.1227A>C (p.Gly409=) | |
| X | g.108622800A>G | CA517924821 | COL4A5 | c.2892A>G (p.Gly964=) n.2348A>G c.125A>G c.2568A>G (p.Gly856=) c.465A>G (p.Gly155=) c.2907A>G (p.Gly969=) c.1227A>G (p.Gly409=) | |
| X | g.108622800A>T | CA517924822 | COL4A5 | c.2892A>T (p.Gly964=) n.2348A>T c.125A>T c.2568A>T (p.Gly856=) c.465A>T (p.Gly155=) c.2907A>T (p.Gly969=) c.1227A>T (p.Gly409=) | |
| X | g.108622801G>A | CA413852972 | COL4A5 | c.2893G>A (p.Glu965Lys) n.2349G>A c.126G>A c.2569G>A (p.Glu857Lys) c.466G>A (p.Glu156Lys) c.2908G>A (p.Glu970Lys) c.1228G>A (p.Glu410Lys) | gnomAD v4 |
| X | g.108622801G>C | CA413852974 | COL4A5 | c.2893G>C (p.Glu965Gln) n.2349G>C c.126G>C c.2569G>C (p.Glu857Gln) c.466G>C (p.Glu156Gln) c.2908G>C (p.Glu970Gln) c.1228G>C (p.Glu410Gln) | |
| X | g.108622801G>T | CA413852976 | COL4A5 | c.2893G>T (p.Glu965Ter) n.2349G>T c.126G>T c.2569G>T (p.Glu857Ter) c.466G>T (p.Glu156Ter) c.2908G>T (p.Glu970Ter) c.1228G>T (p.Glu410Ter) | |
| X | g.108622802A>C | CA413852982 | COL4A5 | c.2894A>C (p.Glu965Ala) n.2350A>C c.127A>C c.2570A>C (p.Glu857Ala) c.467A>C (p.Glu156Ala) c.2909A>C (p.Glu970Ala) c.1229A>C (p.Glu410Ala) | |
| X | g.108622802A>G | CA413852980 | COL4A5 | c.2894A>G (p.Glu965Gly) n.2350A>G c.127A>G c.2570A>G (p.Glu857Gly) c.467A>G (p.Glu156Gly) c.2909A>G (p.Glu970Gly) c.1229A>G (p.Glu410Gly) | |
| X | g.108622802A>T | CA413852978 | COL4A5 | c.2894A>T (p.Glu965Val) n.2350A>T c.127A>T c.2570A>T (p.Glu857Val) c.467A>T (p.Glu156Val) c.2909A>T (p.Glu970Val) c.1229A>T (p.Glu410Val) | |
| X | g.108622803G>A | CA517924828 | COL4A5 | c.2895G>A (p.Glu965=) n.2351G>A c.128G>A c.2571G>A (p.Glu857=) c.468G>A (p.Glu156=) c.2910G>A (p.Glu970=) c.1230G>A (p.Glu410=) | gnomAD v4 |
| X | g.108622803G>C | CA413852984 | COL4A5 | c.2895G>C (p.Glu965Asp) n.2351G>C c.128G>C c.2571G>C (p.Glu857Asp) c.468G>C (p.Glu156Asp) c.2910G>C (p.Glu970Asp) c.1230G>C (p.Glu410Asp) | |
| X | g.108622803G>T | CA413852986 | COL4A5 | c.2895G>T (p.Glu965Asp) n.2351G>T c.128G>T c.2571G>T (p.Glu857Asp) c.468G>T (p.Glu156Asp) c.2910G>T (p.Glu970Asp) c.1230G>T (p.Glu410Asp) | |
| X | g.108622804A>C | CA413852988 | COL4A5 | c.2896A>C (p.Lys966Gln) n.2352A>C c.129A>C c.2572A>C (p.Lys858Gln) c.469A>C (p.Lys157Gln) c.2911A>C (p.Lys971Gln) c.1231A>C (p.Lys411Gln) | |
| X | g.108622804A>G | CA413852991 | COL4A5 | c.2896A>G (p.Lys966Glu) n.2352A>G c.129A>G c.2572A>G (p.Lys858Glu) c.469A>G (p.Lys157Glu) c.2911A>G (p.Lys971Glu) c.1231A>G (p.Lys411Glu) | |
| X | g.108622804A>T | CA413852990 | COL4A5 | c.2896A>T (p.Lys966Ter) n.2352A>T c.129A>T c.2572A>T (p.Lys858Ter) c.469A>T (p.Lys157Ter) c.2911A>T (p.Lys971Ter) c.1231A>T (p.Lys411Ter) | |
| X | g.108622805A>C | CA413852994 | COL4A5 | c.2897A>C (p.Lys966Thr) n.2353A>C c.130A>C c.2573A>C (p.Lys858Thr) c.470A>C (p.Lys157Thr) c.2912A>C (p.Lys971Thr) c.1232A>C (p.Lys411Thr) | |
| X | g.108622805A>G | CA413852998 | COL4A5 | c.2897A>G (p.Lys966Arg) n.2353A>G c.130A>G c.2573A>G (p.Lys858Arg) c.470A>G (p.Lys157Arg) c.2912A>G (p.Lys971Arg) c.1232A>G (p.Lys411Arg) | |
| X | g.108622805A>T | CA413852996 | COL4A5 | c.2897A>T (p.Lys966Met) n.2353A>T c.130A>T c.2573A>T (p.Lys858Met) c.470A>T (p.Lys157Met) c.2912A>T (p.Lys971Met) c.1232A>T (p.Lys411Met) | |
| X | g.108622806G>A | CA517924832 | COL4A5 | c.2898G>A (p.Lys966=) n.2354G>A c.131G>A c.2574G>A (p.Lys858=) c.471G>A (p.Lys157=) c.2913G>A (p.Lys971=) c.1233G>A (p.Lys411=) | gnomAD v4 |
| X | g.108622806G>C | CA413853000 | COL4A5 | c.2898G>C (p.Lys966Asn) n.2354G>C c.131G>C c.2574G>C (p.Lys858Asn) c.471G>C (p.Lys157Asn) c.2913G>C (p.Lys971Asn) c.1233G>C (p.Lys411Asn) | |
| X | g.108622806G>T | CA413853002 | COL4A5 | c.2898G>T (p.Lys966Asn) n.2354G>T c.131G>T c.2574G>T (p.Lys858Asn) c.471G>T (p.Lys157Asn) c.2913G>T (p.Lys971Asn) c.1233G>T (p.Lys411Asn) | |
| X | g.108622810dup | CA2695235228 | COL4A5 | c.2902dup (p.Glu968GlyfsTer?) n.2358dup c.135dup c.2578dup (p.Glu860GlyfsTer?) c.475dup (p.Glu159GlyfsTer?) c.2917dup (p.Glu973GlyfsTer?) c.1237dup (p.Glu413GlyfsTer?) | ClinVar |
| X | g.108622810del | CA2573159093 | COL4A5 | c.2902del (p.Glu968AsnfsTer28) n.2358del c.135del c.2578del (p.Glu860AsnfsTer28) c.475del (p.Glu159AsnfsTer28) c.2917del (p.Glu973AsnfsTer28) c.1237del (p.Glu413AsnfsTer28) | ClinVar dbSNP |
| X | g.108622808_108622817del | CA2695235227 | COL4A5 | c.2900_2909del (p.Gly967AlafsTer26) n.2356_2365del c.133_142del c.2576_2585del (p.Gly859AlafsTer26) c.473_482del (p.Gly158AlafsTer26) c.2915_2924del (p.Gly972AlafsTer26) c.1235_1244del (p.Gly412AlafsTer26) | |
| X | g.108622807G>A | CA413853004 | COL4A5 | c.2899G>A (p.Gly967Arg) n.2355G>A c.132G>A c.2575G>A (p.Gly859Arg) c.472G>A (p.Gly158Arg) c.2914G>A (p.Gly972Arg) c.1234G>A (p.Gly412Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108622807G>C | CA413853006 | COL4A5 | c.2899G>C (p.Gly967Arg) n.2355G>C c.132G>C c.2575G>C (p.Gly859Arg) c.472G>C (p.Gly158Arg) c.2914G>C (p.Gly972Arg) c.1234G>C (p.Gly412Arg) | |
| X | g.108622807G= | CA2450696891 | COL4A5 | c.2899G= (p.Gly967=) n.2355G= c.132G= c.2575G= (p.Gly859=) c.472G= (p.Gly158=) c.2914G= (p.Gly972=) c.1234G= (p.Gly412=) | |
| X | g.108622807G>T | CA413853007 | COL4A5 | c.2899G>T (p.Gly967Trp) n.2355G>T c.132G>T c.2575G>T (p.Gly859Trp) c.472G>T (p.Gly158Trp) c.2914G>T (p.Gly972Trp) c.1234G>T (p.Gly412Trp) | |
| X | g.108622808G>A | CA413853010 | COL4A5 | c.2900G>A (p.Gly967Glu) n.2356G>A c.133G>A c.2576G>A (p.Gly859Glu) c.473G>A (p.Gly158Glu) c.2915G>A (p.Gly972Glu) c.1235G>A (p.Gly412Glu) | COSMIC COSMIC |
| X | g.108622808G>C | CA413853012 | COL4A5 | c.2900G>C (p.Gly967Ala) n.2356G>C c.133G>C c.2576G>C (p.Gly859Ala) c.473G>C (p.Gly158Ala) c.2915G>C (p.Gly972Ala) c.1235G>C (p.Gly412Ala) | |
| X | g.108622808G>T | CA413853013 | COL4A5 | c.2900G>T (p.Gly967Val) n.2356G>T c.133G>T c.2576G>T (p.Gly859Val) c.473G>T (p.Gly158Val) c.2915G>T (p.Gly972Val) c.1235G>T (p.Gly412Val) | |
| X | g.108622809G>A | CA517924835 | COL4A5 | c.2901G>A (p.Gly967=) n.2357G>A c.134G>A c.2577G>A (p.Gly859=) c.474G>A (p.Gly158=) c.2916G>A (p.Gly972=) c.1236G>A (p.Gly412=) | |
| X | g.108622809G>C | CA517924837 | COL4A5 | c.2901G>C (p.Gly967=) n.2357G>C c.134G>C c.2577G>C (p.Gly859=) c.474G>C (p.Gly158=) c.2916G>C (p.Gly972=) c.1236G>C (p.Gly412=) | |
| X | g.108622809G>T | CA517924839 | COL4A5 | c.2901G>T (p.Gly967=) n.2357G>T c.134G>T c.2577G>T (p.Gly859=) c.474G>T (p.Gly158=) c.2916G>T (p.Gly972=) c.1236G>T (p.Gly412=) | ClinVar |
| X | g.108622810G>A | CA413853016 | COL4A5 | c.2902G>A (p.Glu968Lys) n.2358G>A c.135G>A c.2578G>A (p.Glu860Lys) c.475G>A (p.Glu159Lys) c.2917G>A (p.Glu973Lys) c.1237G>A (p.Glu413Lys) | COSMIC COSMIC |
| X | g.108622810G>C | CA413853018 | COL4A5 | c.2902G>C (p.Glu968Gln) n.2358G>C c.135G>C c.2578G>C (p.Glu860Gln) c.475G>C (p.Glu159Gln) c.2917G>C (p.Glu973Gln) c.1237G>C (p.Glu413Gln) | |
| X | g.108622810G>T | CA413853019 | COL4A5 | c.2902G>T (p.Glu968Ter) n.2358G>T c.135G>T c.2578G>T (p.Glu860Ter) c.475G>T (p.Glu159Ter) c.2917G>T (p.Glu973Ter) c.1237G>T (p.Glu413Ter) | |
| X | g.108622811A= | CA2450696892 | COL4A5 | c.2903A= (p.Glu968=) n.2359A= c.136A= c.2579A= (p.Glu860=) c.476A= (p.Glu159=) c.2918A= (p.Glu973=) c.1238A= (p.Glu413=) | |
| X | g.108622811A>C | CA413853022 | COL4A5 | c.2903A>C (p.Glu968Ala) n.2359A>C c.136A>C c.2579A>C (p.Glu860Ala) c.476A>C (p.Glu159Ala) c.2918A>C (p.Glu973Ala) c.1238A>C (p.Glu413Ala) | |
| X | g.108622811A>G | CA413853024 | COL4A5 | c.2903A>G (p.Glu968Gly) n.2359A>G c.136A>G c.2579A>G (p.Glu860Gly) c.476A>G (p.Glu159Gly) c.2918A>G (p.Glu973Gly) c.1238A>G (p.Glu413Gly) | |
| X | g.108622811A>T | CA413853025 | COL4A5 | c.2903A>T (p.Glu968Val) n.2359A>T c.136A>T c.2579A>T (p.Glu860Val) c.476A>T (p.Glu159Val) c.2918A>T (p.Glu973Val) c.1238A>T (p.Glu413Val) | gnomAD v4 |
| X | g.108622811_108622812insG | CA891843947 | COL4A5 | c.2903_2904insG (p.Pro969ThrfsTer?) n.2359_2360insG c.136_137insG c.2579_2580insG (p.Pro861ThrfsTer?) c.476_477insG (p.Pro160ThrfsTer?) c.2918_2919insG (p.Pro974ThrfsTer?) c.1238_1239insG (p.Pro414ThrfsTer?) | |
| X | g.108622812A>C | CA413853030 | COL4A5 | c.2904A>C (p.Glu968Asp) n.2360A>C c.137A>C c.2580A>C (p.Glu860Asp) c.477A>C (p.Glu159Asp) c.2919A>C (p.Glu973Asp) c.1239A>C (p.Glu413Asp) | |
| X | g.108622812A>G | CA517924841 | COL4A5 | c.2904A>G (p.Glu968=) n.2360A>G c.137A>G c.2580A>G (p.Glu860=) c.477A>G (p.Glu159=) c.2919A>G (p.Glu973=) c.1239A>G (p.Glu413=) | gnomAD v4 |
| X | g.108622812A>T | CA413853027 | COL4A5 | c.2904A>T (p.Glu968Asp) n.2360A>T c.137A>T c.2580A>T (p.Glu860Asp) c.477A>T (p.Glu159Asp) c.2919A>T (p.Glu973Asp) c.1239A>T (p.Glu413Asp) | |
| X | g.108622813C>A | CA413853032 | COL4A5 | c.2905C>A (p.Pro969Thr) n.2361C>A c.138C>A c.2581C>A (p.Pro861Thr) c.478C>A (p.Pro160Thr) c.2920C>A (p.Pro974Thr) c.1240C>A (p.Pro414Thr) | |
| X | g.108622813C= | CA2450696893 | COL4A5 | c.2905C= (p.Pro969=) n.2361C= c.138C= c.2581C= (p.Pro861=) c.478C= (p.Pro160=) c.2920C= (p.Pro974=) c.1240C= (p.Pro414=) | |
| X | g.108622813C>G | CA10488994 | COL4A5 | c.2905C>G (p.Pro969Ala) n.2361C>G c.138C>G c.2581C>G (p.Pro861Ala) c.478C>G (p.Pro160Ala) c.2920C>G (p.Pro974Ala) c.1240C>G (p.Pro414Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108622813C>T | CA413853035 | COL4A5 | c.2905C>T (p.Pro969Ser) n.2361C>T c.138C>T c.2581C>T (p.Pro861Ser) c.478C>T (p.Pro160Ser) c.2920C>T (p.Pro974Ser) c.1240C>T (p.Pro414Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108622814C>A | CA10488995 | COL4A5 | c.2906C>A (p.Pro969His) n.2362C>A c.139C>A c.2582C>A (p.Pro861His) c.479C>A (p.Pro160His) c.2921C>A (p.Pro974His) c.1241C>A (p.Pro414His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108622814C= | CA2450696894 | COL4A5 | c.2906C= (p.Pro969=) n.2362C= c.139C= c.2582C= (p.Pro861=) c.479C= (p.Pro160=) c.2921C= (p.Pro974=) c.1241C= (p.Pro414=) | |
| X | g.108622814C>G | CA413853038 | COL4A5 | c.2906C>G (p.Pro969Arg) n.2362C>G c.139C>G c.2582C>G (p.Pro861Arg) c.479C>G (p.Pro160Arg) c.2921C>G (p.Pro974Arg) c.1241C>G (p.Pro414Arg) | |
| X | g.108622814C>T | CA413853040 | COL4A5 | c.2906C>T (p.Pro969Leu) n.2362C>T c.139C>T c.2582C>T (p.Pro861Leu) c.479C>T (p.Pro160Leu) c.2921C>T (p.Pro974Leu) c.1241C>T (p.Pro414Leu) | |
| X | g.108622815T>A | CA517924844 | COL4A5 | c.2907T>A (p.Pro969=) n.2363T>A c.140T>A c.2583T>A (p.Pro861=) c.480T>A (p.Pro160=) c.2922T>A (p.Pro974=) c.1242T>A (p.Pro414=) | |
| X | g.108622815T>C | CA517924845 | COL4A5 | c.2907T>C (p.Pro969=) n.2363T>C c.140T>C c.2583T>C (p.Pro861=) c.480T>C (p.Pro160=) c.2922T>C (p.Pro974=) c.1242T>C (p.Pro414=) | |
| X | g.108622815T>G | CA517924846 | COL4A5 | c.2907T>G (p.Pro969=) n.2363T>G c.140T>G c.2583T>G (p.Pro861=) c.480T>G (p.Pro160=) c.2922T>G (p.Pro974=) c.1242T>G (p.Pro414=) | |
| X | g.108622816G>A | CA413853042 | COL4A5 | c.2908G>A (p.Gly970Ser) n.2364G>A c.141G>A c.2584G>A (p.Gly862Ser) c.481G>A (p.Gly161Ser) c.2923G>A (p.Gly975Ser) c.1243G>A (p.Gly415Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.108622816G>C | CA413853044 | COL4A5 | c.2908G>C (p.Gly970Arg) n.2364G>C c.141G>C c.2584G>C (p.Gly862Arg) c.481G>C (p.Gly161Arg) c.2923G>C (p.Gly975Arg) c.1243G>C (p.Gly415Arg) | |
| X | g.108622816G>T | CA413853046 | COL4A5 | c.2908G>T (p.Gly970Cys) n.2364G>T c.141G>T c.2584G>T (p.Gly862Cys) c.481G>T (p.Gly161Cys) c.2923G>T (p.Gly975Cys) c.1243G>T (p.Gly415Cys) | |
| X | g.108622817G>A | CA413853048 | COL4A5 | c.2909G>A (p.Gly970Asp) n.2365G>A c.142G>A c.2585G>A (p.Gly862Asp) c.482G>A (p.Gly161Asp) c.2924G>A (p.Gly975Asp) c.1244G>A (p.Gly415Asp) | |
| X | g.108622817G>C | CA413853050 | COL4A5 | c.2909G>C (p.Gly970Ala) n.2365G>C c.142G>C c.2585G>C (p.Gly862Ala) c.482G>C (p.Gly161Ala) c.2924G>C (p.Gly975Ala) c.1244G>C (p.Gly415Ala) | |
| X | g.108622817G>T | CA413853052 | COL4A5 | c.2909G>T (p.Gly970Val) n.2365G>T c.142G>T c.2585G>T (p.Gly862Val) c.482G>T (p.Gly161Val) c.2924G>T (p.Gly975Val) c.1244G>T (p.Gly415Val) | |
| X | g.108622818C>A | CA517924850 | COL4A5 | c.2910C>A (p.Gly970=) n.2366C>A c.143C>A c.2586C>A (p.Gly862=) c.483C>A (p.Gly161=) c.2925C>A (p.Gly975=) c.1245C>A (p.Gly415=) | |
| X | g.108622818C= | CA2450696895 | COL4A5 | c.2910C= (p.Gly970=) n.2366C= c.143C= c.2586C= (p.Gly862=) c.483C= (p.Gly161=) c.2925C= (p.Gly975=) c.1245C= (p.Gly415=) | |
| X | g.108622818C>G | CA517924852 | COL4A5 | c.2910C>G (p.Gly970=) n.2366C>G c.143C>G c.2586C>G (p.Gly862=) c.483C>G (p.Gly161=) c.2925C>G (p.Gly975=) c.1245C>G (p.Gly415=) | dbSNP |
| X | g.108622818C>T | CA517924849 | COL4A5 | c.2910C>T (p.Gly970=) n.2366C>T c.143C>T c.2586C>T (p.Gly862=) c.483C>T (p.Gly161=) c.2925C>T (p.Gly975=) c.1245C>T (p.Gly415=) | dbSNP |
| X | g.108622818_108622820delinsA | CA2580100200 | COL4A5 | c.2910_2912delinsA (p.Leu971ThrfsTer?) n.2366_2368delinsA c.143_145delinsA c.2586_2588delinsA (p.Leu863ThrfsTer?) c.483_485delinsA (p.Leu162ThrfsTer?) c.2925_2927delinsA (p.Leu976ThrfsTer?) c.1245_1247delinsA (p.Leu416ThrfsTer?) | ClinVar |
| X | g.108622819T>A | CA413853057 | COL4A5 | c.2911T>A (p.Leu971Ile) n.2367T>A c.144T>A c.2587T>A (p.Leu863Ile) c.484T>A (p.Leu162Ile) c.2926T>A (p.Leu976Ile) c.1246T>A (p.Leu416Ile) | |
| X | g.108622819T>C | CA517924855 | COL4A5 | c.2911T>C (p.Leu971=) n.2367T>C c.144T>C c.2587T>C (p.Leu863=) c.484T>C (p.Leu162=) c.2926T>C (p.Leu976=) c.1246T>C (p.Leu416=) | gnomAD v4 |
| X | g.108622819T>G | CA413853055 | COL4A5 | c.2911T>G (p.Leu971Val) n.2367T>G c.144T>G c.2587T>G (p.Leu863Val) c.484T>G (p.Leu162Val) c.2926T>G (p.Leu976Val) c.1246T>G (p.Leu416Val) | |
| X | g.108622820T>A | CA413853058 | COL4A5 | c.2912T>A (p.Leu971Ter) n.2368T>A c.145T>A c.2588T>A (p.Leu863Ter) c.485T>A (p.Leu162Ter) c.2927T>A (p.Leu976Ter) c.1247T>A (p.Leu416Ter) | |
| X | g.108622820T>C | CA413853060 | COL4A5 | c.2912T>C (p.Leu971Ser) n.2368T>C c.145T>C c.2588T>C (p.Leu863Ser) c.485T>C (p.Leu162Ser) c.2927T>C (p.Leu976Ser) c.1247T>C (p.Leu416Ser) | gnomAD v4 |
| X | g.108622820T>G | CA413853062 | COL4A5 | c.2912T>G (p.Leu971Ter) n.2368T>G c.145T>G c.2588T>G (p.Leu863Ter) c.485T>G (p.Leu162Ter) c.2927T>G (p.Leu976Ter) c.1247T>G (p.Leu416Ter) | |
| X | g.108622821A>C | CA413853063 | COL4A5 | c.2913A>C (p.Leu971Phe) n.2369A>C c.146A>C c.2589A>C (p.Leu863Phe) c.486A>C (p.Leu162Phe) c.2928A>C (p.Leu976Phe) c.1248A>C (p.Leu416Phe) | |
| X | g.108622821A>G | CA517924856 | COL4A5 | c.2913A>G (p.Leu971=) n.2369A>G c.146A>G c.2589A>G (p.Leu863=) c.486A>G (p.Leu162=) c.2928A>G (p.Leu976=) c.1248A>G (p.Leu416=) | |
| X | g.108622821A>T | CA413853065 | COL4A5 | c.2913A>T (p.Leu971Phe) n.2369A>T c.146A>T c.2589A>T (p.Leu863Phe) c.486A>T (p.Leu162Phe) c.2928A>T (p.Leu976Phe) c.1248A>T (p.Leu416Phe) | |
| X | g.108622822C>A | CA413853071 | COL4A5 | c.2914C>A (p.Pro972Thr) n.2370C>A c.147C>A c.2590C>A (p.Pro864Thr) c.487C>A (p.Pro163Thr) c.2929C>A (p.Pro977Thr) c.1249C>A (p.Pro417Thr) | |
| X | g.108622822C>G | CA413853069 | COL4A5 | c.2914C>G (p.Pro972Ala) n.2370C>G c.147C>G c.2590C>G (p.Pro864Ala) c.487C>G (p.Pro163Ala) c.2929C>G (p.Pro977Ala) c.1249C>G (p.Pro417Ala) | |
| X | g.108622822C>T | CA413853068 | COL4A5 | c.2914C>T (p.Pro972Ser) n.2370C>T c.147C>T c.2590C>T (p.Pro864Ser) c.487C>T (p.Pro163Ser) c.2929C>T (p.Pro977Ser) c.1249C>T (p.Pro417Ser) | |
| X | g.108622823del | CA2739290542 | COL4A5 | c.2915del (p.Pro972GlnfsTer24) n.2371del c.148del c.2591del (p.Pro864GlnfsTer24) c.488del (p.Pro163GlnfsTer24) c.2930del (p.Pro977GlnfsTer24) c.1250del (p.Pro417GlnfsTer24) | |
| X | g.108622823C>A | CA413853073 | COL4A5 | c.2915C>A (p.Pro972Gln) n.2371C>A c.148C>A c.2591C>A (p.Pro864Gln) c.488C>A (p.Pro163Gln) c.2930C>A (p.Pro977Gln) c.1250C>A (p.Pro417Gln) | |
| X | g.108622823C>G | CA413853075 | COL4A5 | c.2915C>G (p.Pro972Arg) n.2371C>G c.148C>G c.2591C>G (p.Pro864Arg) c.488C>G (p.Pro163Arg) c.2930C>G (p.Pro977Arg) c.1250C>G (p.Pro417Arg) | |
| X | g.108622823C>T | CA413853077 | COL4A5 | c.2915C>T (p.Pro972Leu) n.2371C>T c.148C>T c.2591C>T (p.Pro864Leu) c.488C>T (p.Pro163Leu) c.2930C>T (p.Pro977Leu) c.1250C>T (p.Pro417Leu) | |
| X | g.108622824A= | CA2450696896 | COL4A5 | c.2916A= (p.Pro972=) n.2372A= c.149A= c.2592A= (p.Pro864=) c.489A= (p.Pro163=) c.2931A= (p.Pro977=) c.1251A= (p.Pro417=) | |
| X | g.108622824A>C | CA517924860 | COL4A5 | c.2916A>C (p.Pro972=) n.2372A>C c.149A>C c.2592A>C (p.Pro864=) c.489A>C (p.Pro163=) c.2931A>C (p.Pro977=) c.1251A>C (p.Pro417=) | |
| X | g.108622824A>G | CA517924858 | COL4A5 | c.2916A>G (p.Pro972=) n.2372A>G c.149A>G c.2592A>G (p.Pro864=) c.489A>G (p.Pro163=) c.2931A>G (p.Pro977=) c.1251A>G (p.Pro417=) | ClinVar dbSNP |
| X | g.108622824A>T | CA517924859 | COL4A5 | c.2916A>T (p.Pro972=) n.2372A>T c.149A>T c.2592A>T (p.Pro864=) c.489A>T (p.Pro163=) c.2931A>T (p.Pro977=) c.1251A>T (p.Pro417=) | |
| X | g.108622825G>A | CA413853079 | COL4A5 | c.2917G>A (p.Gly973Ser) n.2373G>A c.150G>A c.2593G>A (p.Gly865Ser) c.490G>A (p.Gly164Ser) c.2932G>A (p.Gly978Ser) c.1252G>A (p.Gly418Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108622825G>C | CA413853080 | COL4A5 | c.2917G>C (p.Gly973Arg) n.2373G>C c.150G>C c.2593G>C (p.Gly865Arg) c.490G>C (p.Gly164Arg) c.2932G>C (p.Gly978Arg) c.1252G>C (p.Gly418Arg) | |
| X | g.108622825G= | CA2450696897 | COL4A5 | c.2917G= (p.Gly973=) n.2373G= c.150G= c.2593G= (p.Gly865=) c.490G= (p.Gly164=) c.2932G= (p.Gly978=) c.1252G= (p.Gly418=) | |
| X | g.108622825G>T | CA413853082 | COL4A5 | c.2917G>T (p.Gly973Cys) n.2373G>T c.150G>T c.2593G>T (p.Gly865Cys) c.490G>T (p.Gly164Cys) c.2932G>T (p.Gly978Cys) c.1252G>T (p.Gly418Cys) | |
| X | g.108622826G>A | CA413853085 | COL4A5 | c.2917+1G>A (n.2917+1G>A) n.2373+1G>A c.150+1G>A c.2593+1G>A (n.2593+1G>A) c.490+1G>A (n.490+1G>A) c.2932+1G>A (n.2932+1G>A) c.1252+1G>A (n.1252+1G>A) | ClinVar dbSNP |
| X | g.108622826G>C | CA258779 | COL4A5 | c.2917+1G>C (n.2917+1G>C) n.2373+1G>C c.150+1G>C c.2593+1G>C (n.2593+1G>C) c.490+1G>C (n.490+1G>C) c.2932+1G>C (n.2932+1G>C) c.1252+1G>C (n.1252+1G>C) | ClinVar dbSNP |
| X | g.108622826G= | CA2450696898 | COL4A5 | c.2917+1G= (n.2917+1G=) n.2373+1G= c.150+1G= c.2593+1G= (n.2593+1G=) c.490+1G= (n.490+1G=) c.2932+1G= (n.2932+1G=) c.1252+1G= (n.1252+1G=) | |
| X | g.108622826G>T | CA258780 | COL4A5 | c.2917+1G>T (n.2917+1G>T) n.2373+1G>T c.150+1G>T c.2593+1G>T (n.2593+1G>T) c.490+1G>T (n.490+1G>T) c.2932+1G>T (n.2932+1G>T) c.1252+1G>T (n.1252+1G>T) | dbSNP |
| X | g.108622827T>A | CA413853089 | COL4A5 | c.2917+2T>A (n.2917+2T>A) n.2373+2T>A c.150+2T>A c.2593+2T>A (n.2593+2T>A) c.490+2T>A (n.490+2T>A) c.2932+2T>A (n.2932+2T>A) c.1252+2T>A (n.1252+2T>A) | ClinVar |
| X | g.108622827T>C | CA413853091 | COL4A5 | c.2917+2T>C (n.2917+2T>C) n.2373+2T>C c.150+2T>C c.2593+2T>C (n.2593+2T>C) c.490+2T>C (n.490+2T>C) c.2932+2T>C (n.2932+2T>C) c.1252+2T>C (n.1252+2T>C) | |
| X | g.108622827T>G | CA413853093 | COL4A5 | c.2917+2T>G (n.2917+2T>G) n.2373+2T>G c.150+2T>G c.2593+2T>G (n.2593+2T>G) c.490+2T>G (n.490+2T>G) c.2932+2T>G (n.2932+2T>G) c.1252+2T>G (n.1252+2T>G) | |
| X | g.108622829A>G | CA2694440254 | COL4A5 | c.2917+4A>G (n.2917+4A>G) n.2373+4A>G c.150+4A>G c.2593+4A>G (n.2593+4A>G) c.490+4A>G (n.490+4A>G) c.2932+4A>G (n.2932+4A>G) c.1252+4A>G (n.1252+4A>G) | gnomAD v4 |
| X | g.108622831T>G | CA2694440255 | COL4A5 | c.2917+6T>G (n.2917+6T>G) n.2373+6T>G c.150+6T>G c.2593+6T>G (n.2593+6T>G) c.490+6T>G (n.490+6T>G) c.2932+6T>G (n.2932+6T>G) c.1252+6T>G (n.1252+6T>G) | gnomAD v4 |
| X | g.108622832G>A | CA2694440256 | COL4A5 | c.2917+7G>A (n.2917+7G>A) n.2373+7G>A c.150+7G>A c.2593+7G>A (n.2593+7G>A) c.490+7G>A (n.490+7G>A) c.2932+7G>A (n.2932+7G>A) c.1252+7G>A (n.1252+7G>A) | gnomAD v4 |
| X | g.108622832G>T | CA2564997578 | COL4A5 | c.2917+7G>T (n.2917+7G>T) n.2373+7G>T c.150+7G>T c.2593+7G>T (n.2593+7G>T) c.490+7G>T (n.490+7G>T) c.2932+7G>T (n.2932+7G>T) c.1252+7G>T (n.1252+7G>T) | |
| X | g.108622833A>G | CA2694440257 | COL4A5 | c.2917+8A>G (n.2917+8A>G) n.2373+8A>G c.150+8A>G c.2593+8A>G (n.2593+8A>G) c.490+8A>G (n.490+8A>G) c.2932+8A>G (n.2932+8A>G) c.1252+8A>G (n.1252+8A>G) | gnomAD v4 |
| X | g.108622839T>C | CA2450696900 | COL4A5 | c.2917+14T>C (n.2917+14T>C) n.2373+14T>C c.150+14T>C c.2593+14T>C (n.2593+14T>C) c.490+14T>C (n.490+14T>C) c.2932+14T>C (n.2932+14T>C) c.1252+14T>C (n.1252+14T>C) | dbSNP |
| X | g.108622839T= | CA2450696899 | COL4A5 | c.2917+14T= (n.2917+14T=) n.2373+14T= c.150+14T= c.2593+14T= (n.2593+14T=) c.490+14T= (n.490+14T=) c.2932+14T= (n.2932+14T=) c.1252+14T= (n.1252+14T=) | |
| X | g.108622840T>G | CA334050775 | COL4A5 | c.2917+15T>G (n.2917+15T>G) n.2373+15T>G c.150+15T>G c.2593+15T>G (n.2593+15T>G) c.490+15T>G (n.490+15T>G) c.2932+15T>G (n.2932+15T>G) c.1252+15T>G (n.1252+15T>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108622840T= | CA2450696901 | COL4A5 | c.2917+15T= (n.2917+15T=) n.2373+15T= c.150+15T= c.2593+15T= (n.2593+15T=) c.490+15T= (n.490+15T=) c.2932+15T= (n.2932+15T=) c.1252+15T= (n.1252+15T=) | |
| X | g.108622842A= | CA2450696902 | COL4A5 | c.2917+17A= (n.2917+17A=) n.2373+17A= c.150+17A= c.2593+17A= (n.2593+17A=) c.490+17A= (n.490+17A=) c.2932+17A= (n.2932+17A=) c.1252+17A= (n.1252+17A=) | |
| X | g.108622842A>G | CA2694440258 | COL4A5 | c.2917+17A>G (n.2917+17A>G) n.2373+17A>G c.150+17A>G c.2593+17A>G (n.2593+17A>G) c.490+17A>G (n.490+17A>G) c.2932+17A>G (n.2932+17A>G) c.1252+17A>G (n.1252+17A>G) | ClinVar gnomAD v4 |
| X | g.108622842A>T | CA10488996 | COL4A5 | c.2917+17A>T (n.2917+17A>T) n.2373+17A>T c.150+17A>T c.2593+17A>T (n.2593+17A>T) c.490+17A>T (n.490+17A>T) c.2932+17A>T (n.2932+17A>T) c.1252+17A>T (n.1252+17A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108622843T>C | CA10488997 | COL4A5 | c.2917+18T>C (n.2917+18T>C) n.2373+18T>C c.150+18T>C c.2593+18T>C (n.2593+18T>C) c.490+18T>C (n.490+18T>C) c.2932+18T>C (n.2932+18T>C) c.1252+18T>C (n.1252+18T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108622843T= | CA2450696903 | COL4A5 | c.2917+18T= (n.2917+18T=) n.2373+18T= c.150+18T= c.2593+18T= (n.2593+18T=) c.490+18T= (n.490+18T=) c.2932+18T= (n.2932+18T=) c.1252+18T= (n.1252+18T=) | |
| X | g.108622846A>G | CA2579676578 | COL4A5 | c.2917+21A>G (n.2917+21A>G) n.2373+21A>G c.150+21A>G c.2593+21A>G (n.2593+21A>G) c.490+21A>G (n.490+21A>G) c.2932+21A>G (n.2932+21A>G) c.1252+21A>G (n.1252+21A>G) | |
| X | g.108622847T>C | CA2694440259 | COL4A5 | c.2917+22T>C (n.2917+22T>C) n.2373+22T>C c.150+22T>C c.2593+22T>C (n.2593+22T>C) c.490+22T>C (n.490+22T>C) c.2932+22T>C (n.2932+22T>C) c.1252+22T>C (n.1252+22T>C) | gnomAD v4 |
| X | g.108622848G>A | CA1136179593 | COL4A5 | c.2917+23G>A (n.2917+23G>A) n.2373+23G>A c.150+23G>A c.2593+23G>A (n.2593+23G>A) c.490+23G>A (n.490+23G>A) c.2932+23G>A (n.2932+23G>A) c.1252+23G>A (n.1252+23G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108622848G>C | CA2694440260 | COL4A5 | c.2917+23G>C (n.2917+23G>C) n.2373+23G>C c.150+23G>C c.2593+23G>C (n.2593+23G>C) c.490+23G>C (n.490+23G>C) c.2932+23G>C (n.2932+23G>C) c.1252+23G>C (n.1252+23G>C) | gnomAD v4 |
| X | g.108622848G= | CA2450696904 | COL4A5 | c.2917+23G= (n.2917+23G=) n.2373+23G= c.150+23G= c.2593+23G= (n.2593+23G=) c.490+23G= (n.490+23G=) c.2932+23G= (n.2932+23G=) c.1252+23G= (n.1252+23G=) | |
| X | g.108622849A>G | CA2694440261 | COL4A5 | c.2917+24A>G (n.2917+24A>G) n.2373+24A>G c.150+24A>G c.2593+24A>G (n.2593+24A>G) c.490+24A>G (n.490+24A>G) c.2932+24A>G (n.2932+24A>G) c.1252+24A>G (n.1252+24A>G) | gnomAD v4 |
| X | g.108622850A= | CA2450696905 | COL4A5 | c.2917+25A= (n.2917+25A=) n.2373+25A= c.150+25A= c.2593+25A= (n.2593+25A=) c.490+25A= (n.490+25A=) c.2932+25A= (n.2932+25A=) c.1252+25A= (n.1252+25A=) | |
| X | g.108622850A>C | CA2694440262 | COL4A5 | c.2917+25A>C (n.2917+25A>C) n.2373+25A>C c.150+25A>C c.2593+25A>C (n.2593+25A>C) c.490+25A>C (n.490+25A>C) c.2932+25A>C (n.2932+25A>C) c.1252+25A>C (n.1252+25A>C) | gnomAD v4 |
| X | g.108622850A>G | CA869814983 | COL4A5 | c.2917+25A>G (n.2917+25A>G) n.2373+25A>G c.150+25A>G c.2593+25A>G (n.2593+25A>G) c.490+25A>G (n.490+25A>G) c.2932+25A>G (n.2932+25A>G) c.1252+25A>G (n.1252+25A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108622857del | CA2694440263 | COL4A5 | c.2917+32del (n.2917+32del) n.2373+32del c.150+32del c.2593+32del (n.2593+32del) c.490+32del (n.490+32del) c.2932+32del (n.2932+32del) c.1252+32del (n.1252+32del) | gnomAD v4 |
| X | g.108622855T>G | CA2579676579 | COL4A5 | c.2917+30T>G (n.2917+30T>G) n.2373+30T>G c.150+30T>G c.2593+30T>G (n.2593+30T>G) c.490+30T>G (n.490+30T>G) c.2932+30T>G (n.2932+30T>G) c.1252+30T>G (n.1252+30T>G) | |
| X | g.108622856T>C | CA869814985 | COL4A5 | c.2917+31T>C (n.2917+31T>C) n.2373+31T>C c.150+31T>C c.2593+31T>C (n.2593+31T>C) c.490+31T>C (n.490+31T>C) c.2932+31T>C (n.2932+31T>C) c.1252+31T>C (n.1252+31T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108622856T= | CA2450696906 | COL4A5 | c.2917+31T= (n.2917+31T=) n.2373+31T= c.150+31T= c.2593+31T= (n.2593+31T=) c.490+31T= (n.490+31T=) c.2932+31T= (n.2932+31T=) c.1252+31T= (n.1252+31T=) | |
| X | g.108622858C>G | CA2694440264 | COL4A5 | c.2917+33C>G (n.2917+33C>G) n.2373+33C>G c.150+33C>G c.2593+33C>G (n.2593+33C>G) c.490+33C>G (n.490+33C>G) c.2932+33C>G (n.2932+33C>G) c.1252+33C>G (n.1252+33C>G) | gnomAD v4 |
| X | g.108622858_108622867delinsCCTGATATAT | CA2450696907 | COL4A5 | c.2917+33_2917+42delinsCCTGATATAT (n.2917+33_2917+42delinsCCTGATATAT) n.2373+33_2373+42delinsCCTGATATAT c.150+33_150+42delinsCCTGATATAT c.2593+33_2593+42delinsCCTGATATAT (n.2593+33_2593+42delinsCCTGATATAT) c.490+33_490+42delinsCCTGATATAT (n.490+33_490+42delinsCCTGATATAT) c.2932+33_2932+42delinsCCTGATATAT (n.2932+33_2932+42delinsCCTGATATAT) c.1252+33_1252+42delinsCCTGATATAT (n.1252+33_1252+42delinsCCTGATATAT) | |
| X | g.108622859C>A | CA658421137 | COL4A5 | c.2917+34C>A (n.2917+34C>A) n.2373+34C>A c.150+34C>A c.2593+34C>A (n.2593+34C>A) c.490+34C>A (n.490+34C>A) c.2932+34C>A (n.2932+34C>A) c.1252+34C>A (n.1252+34C>A) | COSMIC |
| X | g.108622859C= | CA2450696908 | COL4A5 | c.2917+34C= (n.2917+34C=) n.2373+34C= c.150+34C= c.2593+34C= (n.2593+34C=) c.490+34C= (n.490+34C=) c.2932+34C= (n.2932+34C=) c.1252+34C= (n.1252+34C=) | |
| X | g.108622859C>T | CA869814988 | COL4A5 | c.2917+34C>T (n.2917+34C>T) n.2373+34C>T c.150+34C>T c.2593+34C>T (n.2593+34C>T) c.490+34C>T (n.490+34C>T) c.2932+34C>T (n.2932+34C>T) c.1252+34C>T (n.1252+34C>T) | dbSNP gnomAD v4 |
| X | g.108622863_108622871del | CA10488998 | COL4A5 | c.2917+38_2917+46del (n.2917+38_2917+46del) n.2373+38_2373+46del c.150+38_150+46del c.2593+38_2593+46del (n.2593+38_2593+46del) c.490+38_490+46del (n.490+38_490+46del) c.2932+38_2932+46del (n.2932+38_2932+46del) c.1252+38_1252+46del (n.1252+38_1252+46del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |