| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108621848G>A | CA10581392 | COL4A5 | c.2723G>A (p.Gly908Glu) n.2179G>A c.2399G>A (p.Gly800Glu) c.296G>A (p.Gly99Glu) c.2738G>A (p.Gly913Glu) c.1058G>A (p.Gly353Glu) | ClinVar dbSNP |
| X | g.108621848G>C | CA413852082 | COL4A5 | c.2723G>C (p.Gly908Ala) n.2179G>C c.2399G>C (p.Gly800Ala) c.296G>C (p.Gly99Ala) c.2738G>C (p.Gly913Ala) c.1058G>C (p.Gly353Ala) | |
| X | g.108621848G= | CA2450696584 | COL4A5 | c.2723G= (p.Gly908=) n.2179G= c.2399G= (p.Gly800=) c.296G= (p.Gly99=) c.2738G= (p.Gly913=) c.1058G= (p.Gly353=) | |
| X | g.108621848G>T | CA413852085 | COL4A5 | c.2723G>T (p.Gly908Val) n.2179G>T c.2399G>T (p.Gly800Val) c.296G>T (p.Gly99Val) c.2738G>T (p.Gly913Val) c.1058G>T (p.Gly353Val) | |
| X | g.108621849A>C | CA517924427 | COL4A5 | c.2724A>C (p.Gly908=) n.2180A>C c.2400A>C (p.Gly800=) c.297A>C (p.Gly99=) c.2739A>C (p.Gly913=) c.1059A>C (p.Gly353=) | |
| X | g.108621849A>G | CA517924428 | COL4A5 | c.2724A>G (p.Gly908=) n.2180A>G c.2400A>G (p.Gly800=) c.297A>G (p.Gly99=) c.2739A>G (p.Gly913=) c.1059A>G (p.Gly353=) | |
| X | g.108621849A>T | CA517924429 | COL4A5 | c.2724A>T (p.Gly908=) n.2180A>T c.2400A>T (p.Gly800=) c.297A>T (p.Gly99=) c.2739A>T (p.Gly913=) c.1059A>T (p.Gly353=) | |
| X | g.108621850C>A | CA413852087 | COL4A5 | c.2725C>A (p.Pro909Thr) n.2181C>A c.2401C>A (p.Pro801Thr) c.298C>A (p.Pro100Thr) c.2740C>A (p.Pro914Thr) c.1060C>A (p.Pro354Thr) | |
| X | g.108621850C>G | CA413852090 | COL4A5 | c.2725C>G (p.Pro909Ala) n.2181C>G c.2401C>G (p.Pro801Ala) c.298C>G (p.Pro100Ala) c.2740C>G (p.Pro914Ala) c.1060C>G (p.Pro354Ala) | |
| X | g.108621850C>T | CA413852092 | COL4A5 | c.2725C>T (p.Pro909Ser) n.2181C>T c.2401C>T (p.Pro801Ser) c.298C>T (p.Pro100Ser) c.2740C>T (p.Pro914Ser) c.1060C>T (p.Pro354Ser) | |
| X | g.108621851C>A | CA413852096 | COL4A5 | c.2726C>A (p.Pro909His) n.2182C>A c.2402C>A (p.Pro801His) c.299C>A (p.Pro100His) c.2741C>A (p.Pro914His) c.1061C>A (p.Pro354His) | |
| X | g.108621851C>G | CA413852097 | COL4A5 | c.2726C>G (p.Pro909Arg) n.2182C>G c.2402C>G (p.Pro801Arg) c.299C>G (p.Pro100Arg) c.2741C>G (p.Pro914Arg) c.1061C>G (p.Pro354Arg) | |
| X | g.108621851C>T | CA413852098 | COL4A5 | c.2726C>T (p.Pro909Leu) n.2182C>T c.2402C>T (p.Pro801Leu) c.299C>T (p.Pro100Leu) c.2741C>T (p.Pro914Leu) c.1061C>T (p.Pro354Leu) | |
| X | g.108621852T>A | CA517924433 | COL4A5 | c.2727T>A (p.Pro909=) n.2183T>A c.2403T>A (p.Pro801=) c.300T>A (p.Pro100=) c.2742T>A (p.Pro914=) c.1062T>A (p.Pro354=) | |
| X | g.108621852T>C | CA517924434 | COL4A5 | c.2727T>C (p.Pro909=) n.2183T>C c.2403T>C (p.Pro801=) c.300T>C (p.Pro100=) c.2742T>C (p.Pro914=) c.1062T>C (p.Pro354=) | |
| X | g.108621852T>G | CA517924435 | COL4A5 | c.2727T>G (p.Pro909=) n.2183T>G c.2403T>G (p.Pro801=) c.300T>G (p.Pro100=) c.2742T>G (p.Pro914=) c.1062T>G (p.Pro354=) | |
| X | g.108621853T>A | CA413852101 | COL4A5 | c.2728T>A (p.Leu910Met) n.2184T>A c.2404T>A (p.Leu802Met) c.301T>A (p.Leu101Met) c.2743T>A (p.Leu915Met) c.1063T>A (p.Leu355Met) | |
| X | g.108621853T>C | CA517924436 | COL4A5 | c.2728T>C (p.Leu910=) n.2184T>C c.2404T>C (p.Leu802=) c.301T>C (p.Leu101=) c.2743T>C (p.Leu915=) c.1063T>C (p.Leu355=) | |
| X | g.108621853T>G | CA413852107 | COL4A5 | c.2728T>G (p.Leu910Val) n.2184T>G c.2404T>G (p.Leu802Val) c.301T>G (p.Leu101Val) c.2743T>G (p.Leu915Val) c.1063T>G (p.Leu355Val) | |
| X | g.108621854T>A | CA413852109 | COL4A5 | c.2729T>A (p.Leu910Ter) n.2185T>A c.2405T>A (p.Leu802Ter) c.302T>A (p.Leu101Ter) c.2744T>A (p.Leu915Ter) c.1064T>A (p.Leu355Ter) | gnomAD v4 |
| X | g.108621854T>C | CA413852110 | COL4A5 | c.2729T>C (p.Leu910Ser) n.2185T>C c.2405T>C (p.Leu802Ser) c.302T>C (p.Leu101Ser) c.2744T>C (p.Leu915Ser) c.1064T>C (p.Leu355Ser) | |
| X | g.108621854T>G | CA413852111 | COL4A5 | c.2729T>G (p.Leu910Trp) n.2185T>G c.2405T>G (p.Leu802Trp) c.302T>G (p.Leu101Trp) c.2744T>G (p.Leu915Trp) c.1064T>G (p.Leu355Trp) | |
| X | g.108621855G>A | CA517924438 | COL4A5 | c.2730G>A (p.Leu910=) n.2186G>A c.2406G>A (p.Leu802=) c.303G>A (p.Leu101=) c.2745G>A (p.Leu915=) c.1065G>A (p.Leu355=) | |
| X | g.108621855G>C | CA413852114 | COL4A5 | c.2730G>C (p.Leu910Phe) n.2186G>C c.2406G>C (p.Leu802Phe) c.303G>C (p.Leu101Phe) c.2745G>C (p.Leu915Phe) c.1065G>C (p.Leu355Phe) | |
| X | g.108621855G>T | CA413852115 | COL4A5 | c.2730G>T (p.Leu910Phe) n.2186G>T c.2406G>T (p.Leu802Phe) c.303G>T (p.Leu101Phe) c.2745G>T (p.Leu915Phe) c.1065G>T (p.Leu355Phe) | gnomAD v4 |
| X | g.108621857del | CA2695235222 | COL4A5 | c.2732del (p.Gly911GlufsTer?) n.2188del c.2408del (p.Gly803GlufsTer?) c.305del (p.Gly102GlufsTer?) c.2747del (p.Gly916GlufsTer?) c.1067del (p.Gly356GlufsTer?) | |
| X | g.108621856G>A | CA258748 | COL4A5 | c.2731G>A (p.Gly911Arg) n.2187G>A c.2407G>A (p.Gly803Arg) c.304G>A (p.Gly102Arg) c.2746G>A (p.Gly916Arg) c.1066G>A (p.Gly356Arg) | dbSNP COSMIC COSMIC |
| X | g.108621856G>C | CA413852118 | COL4A5 | c.2731G>C (p.Gly911Arg) n.2187G>C c.2407G>C (p.Gly803Arg) c.304G>C (p.Gly102Arg) c.2746G>C (p.Gly916Arg) c.1066G>C (p.Gly356Arg) | |
| X | g.108621856G= | CA2450696585 | COL4A5 | c.2731G= (p.Gly911=) n.2187G= c.2407G= (p.Gly803=) c.304G= (p.Gly102=) c.2746G= (p.Gly916=) c.1066G= (p.Gly356=) | |
| X | g.108621856G>T | CA413852121 | COL4A5 | c.2731G>T (p.Gly911Ter) n.2187G>T c.2407G>T (p.Gly803Ter) c.304G>T (p.Gly102Ter) c.2746G>T (p.Gly916Ter) c.1066G>T (p.Gly356Ter) | |
| X | g.108621857G>A | CA258751 | COL4A5 | c.2732G>A (p.Gly911Glu) n.2188G>A c.2408G>A (p.Gly803Glu) c.305G>A (p.Gly102Glu) c.2747G>A (p.Gly916Glu) c.1067G>A (p.Gly356Glu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.108621857G>C | CA413852125 | COL4A5 | c.2732G>C (p.Gly911Ala) n.2188G>C c.2408G>C (p.Gly803Ala) c.305G>C (p.Gly102Ala) c.2747G>C (p.Gly916Ala) c.1067G>C (p.Gly356Ala) | |
| X | g.108621857G= | CA2450696586 | COL4A5 | c.2732G= (p.Gly911=) n.2188G= c.2408G= (p.Gly803=) c.305G= (p.Gly102=) c.2747G= (p.Gly916=) c.1067G= (p.Gly356=) | |
| X | g.108621857G>T | CA413852127 | COL4A5 | c.2732G>T (p.Gly911Val) n.2188G>T c.2408G>T (p.Gly803Val) c.305G>T (p.Gly102Val) c.2747G>T (p.Gly916Val) c.1067G>T (p.Gly356Val) | |
| X | g.108621858A>C | CA517924441 | COL4A5 | c.2733A>C (p.Gly911=) n.2189A>C c.2409A>C (p.Gly803=) c.306A>C (p.Gly102=) c.2748A>C (p.Gly916=) c.1068A>C (p.Gly356=) | |
| X | g.108621858A>G | CA517924443 | COL4A5 | c.2733A>G (p.Gly911=) n.2189A>G c.2409A>G (p.Gly803=) c.306A>G (p.Gly102=) c.2748A>G (p.Gly916=) c.1068A>G (p.Gly356=) | |
| X | g.108621858A>T | CA517924445 | COL4A5 | c.2733A>T (p.Gly911=) n.2189A>T c.2409A>T (p.Gly803=) c.306A>T (p.Gly102=) c.2748A>T (p.Gly916=) c.1068A>T (p.Gly356=) | |
| X | g.108621859A>C | CA413852132 | COL4A5 | c.2734A>C (p.Ile912Leu) n.2190A>C c.2410A>C (p.Ile804Leu) c.307A>C (p.Ile103Leu) c.2749A>C (p.Ile917Leu) c.1069A>C (p.Ile357Leu) | |
| X | g.108621859A>G | CA413852131 | COL4A5 | c.2734A>G (p.Ile912Val) n.2190A>G c.2410A>G (p.Ile804Val) c.307A>G (p.Ile103Val) c.2749A>G (p.Ile917Val) c.1069A>G (p.Ile357Val) | |
| X | g.108621859A>T | CA413852130 | COL4A5 | c.2734A>T (p.Ile912Phe) n.2190A>T c.2410A>T (p.Ile804Phe) c.307A>T (p.Ile103Phe) c.2749A>T (p.Ile917Phe) c.1069A>T (p.Ile357Phe) | |
| X | g.108621860T>A | CA413852133 | COL4A5 | c.2735T>A (p.Ile912Asn) n.2191T>A c.2411T>A (p.Ile804Asn) c.308T>A (p.Ile103Asn) c.2750T>A (p.Ile917Asn) c.1070T>A (p.Ile357Asn) | |
| X | g.108621860T>C | CA413852136 | COL4A5 | c.2735T>C (p.Ile912Thr) n.2191T>C c.2411T>C (p.Ile804Thr) c.308T>C (p.Ile103Thr) c.2750T>C (p.Ile917Thr) c.1070T>C (p.Ile357Thr) | |
| X | g.108621860T>G | CA413852138 | COL4A5 | c.2735T>G (p.Ile912Ser) n.2191T>G c.2411T>G (p.Ile804Ser) c.308T>G (p.Ile103Ser) c.2750T>G (p.Ile917Ser) c.1070T>G (p.Ile357Ser) | |
| X | g.108621861T>A | CA517924446 | COL4A5 | c.2736T>A (p.Ile912=) n.2192T>A c.2412T>A (p.Ile804=) c.309T>A (p.Ile103=) c.2751T>A (p.Ile917=) c.1071T>A (p.Ile357=) | |
| X | g.108621861T>C | CA517924447 | COL4A5 | c.2736T>C (p.Ile912=) n.2192T>C c.2412T>C (p.Ile804=) c.309T>C (p.Ile103=) c.2751T>C (p.Ile917=) c.1071T>C (p.Ile357=) | |
| X | g.108621861T>G | CA413852139 | COL4A5 | c.2736T>G (p.Ile912Met) n.2192T>G c.2412T>G (p.Ile804Met) c.309T>G (p.Ile103Met) c.2751T>G (p.Ile917Met) c.1071T>G (p.Ile357Met) | |
| X | g.108621862C>A | CA413852143 | COL4A5 | c.2737C>A (p.Pro913Thr) n.2193C>A c.2413C>A (p.Pro805Thr) c.310C>A (p.Pro104Thr) c.2752C>A (p.Pro918Thr) c.1072C>A (p.Pro358Thr) | |
| X | g.108621862C>G | CA413852144 | COL4A5 | c.2737C>G (p.Pro913Ala) n.2193C>G c.2413C>G (p.Pro805Ala) c.310C>G (p.Pro104Ala) c.2752C>G (p.Pro918Ala) c.1072C>G (p.Pro358Ala) | |
| X | g.108621862C>T | CA413852151 | COL4A5 | c.2737C>T (p.Pro913Ser) n.2193C>T c.2413C>T (p.Pro805Ser) c.310C>T (p.Pro104Ser) c.2752C>T (p.Pro918Ser) c.1072C>T (p.Pro358Ser) | COSMIC COSMIC |
| X | g.108621863C>A | CA413852160 | COL4A5 | c.2738C>A (p.Pro913His) n.2194C>A c.2414C>A (p.Pro805His) c.311C>A (p.Pro104His) c.2753C>A (p.Pro918His) c.1073C>A (p.Pro358His) |