Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108624231G>A | CA10489004 | COL4A5 | c.2918-5G>A (n.2918-5G>A) n.2374-5G>A c.151-5G>A c.2594-5G>A (n.2594-5G>A) c.491-5G>A (n.491-5G>A) c.2933-5G>A (n.2933-5G>A) c.1253-5G>A (n.1253-5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108624231G= | CA2450697321 | COL4A5 | c.2918-5G= (n.2918-5G=) n.2374-5G= c.151-5G= c.2594-5G= (n.2594-5G=) c.491-5G= (n.491-5G=) c.2933-5G= (n.2933-5G=) c.1253-5G= (n.1253-5G=) | |
X | g.108624232G>A | CA334051465 | COL4A5 | c.2918-4G>A (n.2918-4G>A) n.2374-4G>A c.151-4G>A c.2594-4G>A (n.2594-4G>A) c.491-4G>A (n.491-4G>A) c.2933-4G>A (n.2933-4G>A) c.1253-4G>A (n.1253-4G>A) | dbSNP gnomAD v4 |
X | g.108624232G= | CA2450697322 | COL4A5 | c.2918-4G= (n.2918-4G=) n.2374-4G= c.151-4G= c.2594-4G= (n.2594-4G=) c.491-4G= (n.491-4G=) c.2933-4G= (n.2933-4G=) c.1253-4G= (n.1253-4G=) | |
X | g.108624234A>C | CA413853152 | COL4A5 | c.2918-2A>C (n.2918-2A>C) n.2374-2A>C c.151-2A>C c.2594-2A>C (n.2594-2A>C) c.491-2A>C (n.491-2A>C) c.2933-2A>C (n.2933-2A>C) c.1253-2A>C (n.1253-2A>C) | |
X | g.108624234A>G | CA413853153 | COL4A5 | c.2918-2A>G (n.2918-2A>G) n.2374-2A>G c.151-2A>G c.2594-2A>G (n.2594-2A>G) c.491-2A>G (n.491-2A>G) c.2933-2A>G (n.2933-2A>G) c.1253-2A>G (n.1253-2A>G) | |
X | g.108624234A>T | CA413853154 | COL4A5 | c.2918-2A>T (n.2918-2A>T) n.2374-2A>T c.151-2A>T c.2594-2A>T (n.2594-2A>T) c.491-2A>T (n.491-2A>T) c.2933-2A>T (n.2933-2A>T) c.1253-2A>T (n.1253-2A>T) | |
X | g.108624235G>A | CA413853156 | COL4A5 | c.2918-1G>A (n.2918-1G>A) n.2374-1G>A c.151-1G>A c.2594-1G>A (n.2594-1G>A) c.491-1G>A (n.491-1G>A) c.2933-1G>A (n.2933-1G>A) c.1253-1G>A (n.1253-1G>A) | ClinVar dbSNP |
X | g.108624235G>C | CA413853158 | COL4A5 | c.2918-1G>C (n.2918-1G>C) n.2374-1G>C c.151-1G>C c.2594-1G>C (n.2594-1G>C) c.491-1G>C (n.491-1G>C) c.2933-1G>C (n.2933-1G>C) c.1253-1G>C (n.1253-1G>C) | |
X | g.108624235G= | CA2450697323 | COL4A5 | c.2918-1G= (n.2918-1G=) n.2374-1G= c.151-1G= c.2594-1G= (n.2594-1G=) c.491-1G= (n.491-1G=) c.2933-1G= (n.2933-1G=) c.1253-1G= (n.1253-1G=) | |
X | g.108624235G>T | CA258781 | COL4A5 | c.2918-1G>T (n.2918-1G>T) n.2374-1G>T c.151-1G>T c.2594-1G>T (n.2594-1G>T) c.491-1G>T (n.491-1G>T) c.2933-1G>T (n.2933-1G>T) c.1253-1G>T (n.1253-1G>T) | dbSNP |
X | g.108624236G>A | CA413853167 | COL4A5 | c.2918G>A (p.Gly973Asp) n.2374G>A c.151G>A c.2594G>A (p.Gly865Asp) c.491G>A (p.Gly164Asp) c.2933G>A (p.Gly978Asp) c.1253G>A (p.Gly418Asp) | |
X | g.108624236G>C | CA413853173 | COL4A5 | c.2918G>C (p.Gly973Ala) n.2374G>C c.151G>C c.2594G>C (p.Gly865Ala) c.491G>C (p.Gly164Ala) c.2933G>C (p.Gly978Ala) c.1253G>C (p.Gly418Ala) | |
X | g.108624236G= | CA2450697324 | COL4A5 | c.2918G= (p.Gly973=) n.2374G= c.151G= c.2594G= (p.Gly865=) c.491G= (p.Gly164=) c.2933G= (p.Gly978=) c.1253G= (p.Gly418=) | |
X | g.108624236G>T | CA413853171 | COL4A5 | c.2918G>T (p.Gly973Val) n.2374G>T c.151G>T c.2594G>T (p.Gly865Val) c.491G>T (p.Gly164Val) c.2933G>T (p.Gly978Val) c.1253G>T (p.Gly418Val) | |
X | g.108624237T>A | CA517924928 | COL4A5 | c.2919T>A (p.Gly973=) n.2375T>A c.152T>A c.2595T>A (p.Gly865=) c.492T>A (p.Gly164=) c.2934T>A (p.Gly978=) c.1254T>A (p.Gly418=) | |
X | g.108624237T>C | CA517924929 | COL4A5 | c.2919T>C (p.Gly973=) n.2375T>C c.152T>C c.2595T>C (p.Gly865=) c.492T>C (p.Gly164=) c.2934T>C (p.Gly978=) c.1254T>C (p.Gly418=) | dbSNP |
X | g.108624237T>G | CA517924930 | COL4A5 | c.2919T>G (p.Gly973=) n.2375T>G c.152T>G c.2595T>G (p.Gly865=) c.492T>G (p.Gly164=) c.2934T>G (p.Gly978=) c.1254T>G (p.Gly418=) | |
X | g.108624237T= | CA2450697325 | COL4A5 | c.2919T= (p.Gly973=) n.2375T= c.152T= c.2595T= (p.Gly865=) c.492T= (p.Gly164=) c.2934T= (p.Gly978=) c.1254T= (p.Gly418=) | |
X | g.108624238A>C | CA413853174 | COL4A5 | c.2920A>C (p.Ile974Leu) n.2376A>C c.153A>C c.2596A>C (p.Ile866Leu) c.493A>C (p.Ile165Leu) c.2935A>C (p.Ile979Leu) c.1255A>C (p.Ile419Leu) | |
X | g.108624238A>G | CA413853176 | COL4A5 | c.2920A>G (p.Ile974Val) n.2376A>G c.153A>G c.2596A>G (p.Ile866Val) c.493A>G (p.Ile165Val) c.2935A>G (p.Ile979Val) c.1255A>G (p.Ile419Val) | |
X | g.108624238A>T | CA413853178 | COL4A5 | c.2920A>T (p.Ile974Leu) n.2376A>T c.153A>T c.2596A>T (p.Ile866Leu) c.493A>T (p.Ile165Leu) c.2935A>T (p.Ile979Leu) c.1255A>T (p.Ile419Leu) | |
X | g.108624239T>A | CA413853181 | COL4A5 | c.2921T>A (p.Ile974Lys) n.2377T>A c.154T>A c.2597T>A (p.Ile866Lys) c.494T>A (p.Ile165Lys) c.2936T>A (p.Ile979Lys) c.1256T>A (p.Ile419Lys) | |
X | g.108624239T>C | CA413853183 | COL4A5 | c.2921T>C (p.Ile974Thr) n.2377T>C c.154T>C c.2597T>C (p.Ile866Thr) c.494T>C (p.Ile165Thr) c.2936T>C (p.Ile979Thr) c.1256T>C (p.Ile419Thr) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108624239T>G | CA413853185 | COL4A5 | c.2921T>G (p.Ile974Arg) n.2377T>G c.154T>G c.2597T>G (p.Ile866Arg) c.494T>G (p.Ile165Arg) c.2936T>G (p.Ile979Arg) c.1256T>G (p.Ile419Arg) | |
X | g.108624239T= | CA2450697326 | COL4A5 | c.2921T= (p.Ile974=) n.2377T= c.154T= c.2597T= (p.Ile866=) c.494T= (p.Ile165=) c.2936T= (p.Ile979=) c.1256T= (p.Ile419=) | |
X | g.108624240A= | CA2450697327 | COL4A5 | c.2922A= (p.Ile974=) n.2378A= c.155A= c.2598A= (p.Ile866=) c.495A= (p.Ile165=) c.2937A= (p.Ile979=) c.1257A= (p.Ile419=) | |
X | g.108624240A>C | CA517924935 | COL4A5 | c.2922A>C (p.Ile974=) n.2378A>C c.155A>C c.2598A>C (p.Ile866=) c.495A>C (p.Ile165=) c.2937A>C (p.Ile979=) c.1257A>C (p.Ile419=) | |
X | g.108624240A>G | CA334051469 | COL4A5 | c.2922A>G (p.Ile974Met) n.2378A>G c.155A>G c.2598A>G (p.Ile866Met) c.495A>G (p.Ile165Met) c.2937A>G (p.Ile979Met) c.1257A>G (p.Ile419Met) | dbSNP gnomAD v4 |
X | g.108624240A>T | CA517924936 | COL4A5 | c.2922A>T (p.Ile974=) n.2378A>T c.155A>T c.2598A>T (p.Ile866=) c.495A>T (p.Ile165=) c.2937A>T (p.Ile979=) c.1257A>T (p.Ile419=) | |
X | g.108624241C>A | CA413853187 | COL4A5 | c.2923C>A (p.Pro975Thr) n.2379C>A c.156C>A c.2599C>A (p.Pro867Thr) c.496C>A (p.Pro166Thr) c.2938C>A (p.Pro980Thr) c.1258C>A (p.Pro420Thr) | gnomAD v4 |
X | g.108624241C>G | CA413853189 | COL4A5 | c.2923C>G (p.Pro975Ala) n.2379C>G c.156C>G c.2599C>G (p.Pro867Ala) c.496C>G (p.Pro166Ala) c.2938C>G (p.Pro980Ala) c.1258C>G (p.Pro420Ala) | |
X | g.108624241C>T | CA413853191 | COL4A5 | c.2923C>T (p.Pro975Ser) n.2379C>T c.156C>T c.2599C>T (p.Pro867Ser) c.496C>T (p.Pro166Ser) c.2938C>T (p.Pro980Ser) c.1258C>T (p.Pro420Ser) | gnomAD v4 |
X | g.108624242dup | CA2695235747 | COL4A5 | c.2924dup (p.Gly976TrpfsTer?) n.2380dup c.157dup c.2600dup (p.Gly868TrpfsTer?) c.497dup (p.Gly167TrpfsTer?) c.2939dup (p.Gly981TrpfsTer?) c.1259dup (p.Gly421TrpfsTer?) | |
X | g.108624242C>A | CA413853194 | COL4A5 | c.2924C>A (p.Pro975His) n.2380C>A c.157C>A c.2600C>A (p.Pro867His) c.497C>A (p.Pro166His) c.2939C>A (p.Pro980His) c.1259C>A (p.Pro420His) | |
X | g.108624242C>G | CA413853193 | COL4A5 | c.2924C>G (p.Pro975Arg) n.2380C>G c.157C>G c.2600C>G (p.Pro867Arg) c.497C>G (p.Pro166Arg) c.2939C>G (p.Pro980Arg) c.1259C>G (p.Pro420Arg) | |
X | g.108624242C>T | CA413853192 | COL4A5 | c.2924C>T (p.Pro975Leu) n.2380C>T c.157C>T c.2600C>T (p.Pro867Leu) c.497C>T (p.Pro166Leu) c.2939C>T (p.Pro980Leu) c.1259C>T (p.Pro420Leu) | gnomAD v4 |
X | g.108624243T>A | CA517924938 | COL4A5 | c.2925T>A (p.Pro975=) n.2381T>A c.158T>A c.2601T>A (p.Pro867=) c.498T>A (p.Pro166=) c.2940T>A (p.Pro980=) c.1260T>A (p.Pro420=) | |
X | g.108624243T>C | CA517924939 | COL4A5 | c.2925T>C (p.Pro975=) n.2381T>C c.158T>C c.2601T>C (p.Pro867=) c.498T>C (p.Pro166=) c.2940T>C (p.Pro980=) c.1260T>C (p.Pro420=) | |
X | g.108624243T>G | CA517924940 | COL4A5 | c.2925T>G (p.Pro975=) n.2381T>G c.158T>G c.2601T>G (p.Pro867=) c.498T>G (p.Pro166=) c.2940T>G (p.Pro980=) c.1260T>G (p.Pro420=) | |
X | g.108624244G>A | CA413853196 | COL4A5 | c.2926G>A (p.Gly976Arg) n.2382G>A c.159G>A c.2602G>A (p.Gly868Arg) c.499G>A (p.Gly167Arg) c.2941G>A (p.Gly981Arg) c.1261G>A (p.Gly421Arg) | |
X | g.108624244G>C | CA413853198 | COL4A5 | c.2926G>C (p.Gly976Arg) n.2382G>C c.159G>C c.2602G>C (p.Gly868Arg) c.499G>C (p.Gly167Arg) c.2941G>C (p.Gly981Arg) c.1261G>C (p.Gly421Arg) | |
X | g.108624244G= | CA2450697329 | COL4A5 | c.2926G= (p.Gly976=) n.2382G= c.159G= c.2602G= (p.Gly868=) c.499G= (p.Gly167=) c.2941G= (p.Gly981=) c.1261G= (p.Gly421=) | |
X | g.108624244G>T | CA413853197 | COL4A5 | c.2926G>T (p.Gly976Ter) n.2382G>T c.159G>T c.2602G>T (p.Gly868Ter) c.499G>T (p.Gly167Ter) c.2941G>T (p.Gly981Ter) c.1261G>T (p.Gly421Ter) | ClinVar dbSNP |
X | g.108624245del | CA2544389261 | COL4A5 | c.2927del (p.Gly976GlufsTer20) n.2383del c.160del c.2603del (p.Gly868GlufsTer20) c.500del (p.Gly167GlufsTer20) c.2942del (p.Gly981GlufsTer20) c.1262del (p.Gly421GlufsTer20) | ClinVar dbSNP gnomAD v4 |
X | g.108624244_108624246delinsGGA | CA2450697328 | COL4A5 | c.2926_2928delinsGGA (p.Gly976=) n.2382_2384delinsGGA c.159_161delinsGGA c.2602_2604delinsGGA (p.Gly868=) c.499_501delinsGGA (p.Gly167=) c.2941_2943delinsGGA (p.Gly981=) c.1261_1263delinsGGA (p.Gly421=) | |
X | g.108624245G>A | CA413853199 | COL4A5 | c.2927G>A (p.Gly976Glu) n.2383G>A c.160G>A c.2603G>A (p.Gly868Glu) c.500G>A (p.Gly167Glu) c.2942G>A (p.Gly981Glu) c.1262G>A (p.Gly421Glu) | ClinVar dbSNP |
X | g.108624245G>C | CA413853201 | COL4A5 | c.2927G>C (p.Gly976Ala) n.2383G>C c.160G>C c.2603G>C (p.Gly868Ala) c.500G>C (p.Gly167Ala) c.2942G>C (p.Gly981Ala) c.1262G>C (p.Gly421Ala) | |
X | g.108624245G= | CA2450697330 | COL4A5 | c.2927G= (p.Gly976=) n.2383G= c.160G= c.2603G= (p.Gly868=) c.500G= (p.Gly167=) c.2942G= (p.Gly981=) c.1262G= (p.Gly421=) | |
X | g.108624245G>T | CA413853200 | COL4A5 | c.2927G>T (p.Gly976Val) n.2383G>T c.160G>T c.2603G>T (p.Gly868Val) c.500G>T (p.Gly167Val) c.2942G>T (p.Gly981Val) c.1262G>T (p.Gly421Val) | ClinVar |
X | g.108624246_108624247del | CA334051474 | COL4A5 | c.2928_2929del (p.Val977PhefsTer?) n.2384_2385del c.161_162del c.2604_2605del (p.Val869PhefsTer?) c.501_502del (p.Val168PhefsTer?) c.2943_2944del (p.Val982PhefsTer?) c.1263_1264del (p.Val422PhefsTer?) | dbSNP |
X | g.108624246A>C | CA517924949 | COL4A5 | c.2928A>C (p.Gly976=) n.2384A>C c.161A>C c.2604A>C (p.Gly868=) c.501A>C (p.Gly167=) c.2943A>C (p.Gly981=) c.1263A>C (p.Gly421=) | |
X | g.108624246A>G | CA517924948 | COL4A5 | c.2928A>G (p.Gly976=) n.2384A>G c.161A>G c.2604A>G (p.Gly868=) c.501A>G (p.Gly167=) c.2943A>G (p.Gly981=) c.1263A>G (p.Gly421=) | COSMIC COSMIC |
X | g.108624246A>T | CA517924947 | COL4A5 | c.2928A>T (p.Gly976=) n.2384A>T c.161A>T c.2604A>T (p.Gly868=) c.501A>T (p.Gly167=) c.2943A>T (p.Gly981=) c.1263A>T (p.Gly421=) | |
X | g.108624247G>A | CA413853202 | COL4A5 | c.2929G>A (p.Val977Ile) n.2385G>A c.162G>A c.2605G>A (p.Val869Ile) c.502G>A (p.Val168Ile) c.2944G>A (p.Val982Ile) c.1264G>A (p.Val422Ile) | dbSNP gnomAD v4 |
X | g.108624247G>C | CA413853203 | COL4A5 | c.2929G>C (p.Val977Leu) n.2385G>C c.162G>C c.2605G>C (p.Val869Leu) c.502G>C (p.Val168Leu) c.2944G>C (p.Val982Leu) c.1264G>C (p.Val422Leu) | |
X | g.108624247G= | CA2450697331 | COL4A5 | c.2929G= (p.Val977=) n.2385G= c.162G= c.2605G= (p.Val869=) c.502G= (p.Val168=) c.2944G= (p.Val982=) c.1264G= (p.Val422=) | |
X | g.108624247G>T | CA413853204 | COL4A5 | c.2929G>T (p.Val977Phe) n.2385G>T c.162G>T c.2605G>T (p.Val869Phe) c.502G>T (p.Val168Phe) c.2944G>T (p.Val982Phe) c.1264G>T (p.Val422Phe) | |
X | g.108624248T>A | CA413853205 | COL4A5 | c.2930T>A (p.Val977Asp) n.2386T>A c.163T>A c.2606T>A (p.Val869Asp) c.503T>A (p.Val168Asp) c.2945T>A (p.Val982Asp) c.1265T>A (p.Val422Asp) | gnomAD v4 |
X | g.108624248T>C | CA413853206 | COL4A5 | c.2930T>C (p.Val977Ala) n.2386T>C c.163T>C c.2606T>C (p.Val869Ala) c.503T>C (p.Val168Ala) c.2945T>C (p.Val982Ala) c.1265T>C (p.Val422Ala) | |
X | g.108624248T>G | CA413853207 | COL4A5 | c.2930T>G (p.Val977Gly) n.2386T>G c.163T>G c.2606T>G (p.Val869Gly) c.503T>G (p.Val168Gly) c.2945T>G (p.Val982Gly) c.1265T>G (p.Val422Gly) | |
X | g.108624249T>A | CA517924953 | COL4A5 | c.2931T>A (p.Val977=) n.2387T>A c.164T>A c.2607T>A (p.Val869=) c.504T>A (p.Val168=) c.2946T>A (p.Val982=) c.1266T>A (p.Val422=) | |
X | g.108624249T>C | CA517924954 | COL4A5 | c.2931T>C (p.Val977=) n.2387T>C c.164T>C c.2607T>C (p.Val869=) c.504T>C (p.Val168=) c.2946T>C (p.Val982=) c.1266T>C (p.Val422=) | |
X | g.108624249T>G | CA517924955 | COL4A5 | c.2931T>G (p.Val977=) n.2387T>G c.164T>G c.2607T>G (p.Val869=) c.504T>G (p.Val168=) c.2946T>G (p.Val982=) c.1266T>G (p.Val422=) | |
X | g.108624250T>A | CA413853208 | COL4A5 | c.2932T>A (p.Ser978Thr) n.2388T>A c.165T>A c.2608T>A (p.Ser870Thr) c.505T>A (p.Ser169Thr) c.2947T>A (p.Ser983Thr) c.1267T>A (p.Ser423Thr) | |
X | g.108624250T>C | CA413853209 | COL4A5 | c.2932T>C (p.Ser978Pro) n.2388T>C c.165T>C c.2608T>C (p.Ser870Pro) c.505T>C (p.Ser169Pro) c.2947T>C (p.Ser983Pro) c.1267T>C (p.Ser423Pro) | |
X | g.108624250T>G | CA413853210 | COL4A5 | c.2932T>G (p.Ser978Ala) n.2388T>G c.165T>G c.2608T>G (p.Ser870Ala) c.505T>G (p.Ser169Ala) c.2947T>G (p.Ser983Ala) c.1267T>G (p.Ser423Ala) | gnomAD v4 |
X | g.108624251C>A | CA413853211 | COL4A5 | c.2933C>A (p.Ser978Ter) n.2389C>A c.166C>A c.2609C>A (p.Ser870Ter) c.506C>A (p.Ser169Ter) c.2948C>A (p.Ser983Ter) c.1268C>A (p.Ser423Ter) | gnomAD v4 |
X | g.108624251C>G | CA413853212 | COL4A5 | c.2933C>G (p.Ser978Ter) n.2389C>G c.166C>G c.2609C>G (p.Ser870Ter) c.506C>G (p.Ser169Ter) c.2948C>G (p.Ser983Ter) c.1268C>G (p.Ser423Ter) | |
X | g.108624251C>T | CA413853213 | COL4A5 | c.2933C>T (p.Ser978Leu) n.2389C>T c.166C>T c.2609C>T (p.Ser870Leu) c.506C>T (p.Ser169Leu) c.2948C>T (p.Ser983Leu) c.1268C>T (p.Ser423Leu) | dbSNP |
X | g.108624252A>C | CA517924959 | COL4A5 | c.2934A>C (p.Ser978=) n.2390A>C c.167A>C c.2610A>C (p.Ser870=) c.507A>C (p.Ser169=) c.2949A>C (p.Ser983=) c.1269A>C (p.Ser423=) | |
X | g.108624252A>G | CA517924961 | COL4A5 | c.2934A>G (p.Ser978=) n.2390A>G c.167A>G c.2610A>G (p.Ser870=) c.507A>G (p.Ser169=) c.2949A>G (p.Ser983=) c.1269A>G (p.Ser423=) | gnomAD v4 |
X | g.108624252A>T | CA517924960 | COL4A5 | c.2934A>T (p.Ser978=) n.2390A>T c.167A>T c.2610A>T (p.Ser870=) c.507A>T (p.Ser169=) c.2949A>T (p.Ser983=) c.1269A>T (p.Ser423=) | |
X | g.108624253G>A | CA413853216 | COL4A5 | c.2935G>A (p.Gly979Arg) n.2391G>A c.168G>A c.2611G>A (p.Gly871Arg) c.508G>A (p.Gly170Arg) c.2950G>A (p.Gly984Arg) c.1270G>A (p.Gly424Arg) | |
X | g.108624253G>C | CA413853214 | COL4A5 | c.2935G>C (p.Gly979Arg) n.2391G>C c.168G>C c.2611G>C (p.Gly871Arg) c.508G>C (p.Gly170Arg) c.2950G>C (p.Gly984Arg) c.1270G>C (p.Gly424Arg) | |
X | g.108624253G>T | CA413853215 | COL4A5 | c.2935G>T (p.Gly979Trp) n.2391G>T c.168G>T c.2611G>T (p.Gly871Trp) c.508G>T (p.Gly170Trp) c.2950G>T (p.Gly984Trp) c.1270G>T (p.Gly424Trp) | gnomAD v4 |
X | g.108624254G>A | CA413853217 | COL4A5 | c.2936G>A (p.Gly979Glu) n.2392G>A c.169G>A c.2612G>A (p.Gly871Glu) c.509G>A (p.Gly170Glu) c.2951G>A (p.Gly984Glu) c.1271G>A (p.Gly424Glu) | ClinVar |
X | g.108624254G>C | CA413853218 | COL4A5 | c.2936G>C (p.Gly979Ala) n.2392G>C c.169G>C c.2612G>C (p.Gly871Ala) c.509G>C (p.Gly170Ala) c.2951G>C (p.Gly984Ala) c.1271G>C (p.Gly424Ala) | |
X | g.108624254G>T | CA413853219 | COL4A5 | c.2936G>T (p.Gly979Val) n.2392G>T c.169G>T c.2612G>T (p.Gly871Val) c.509G>T (p.Gly170Val) c.2951G>T (p.Gly984Val) c.1271G>T (p.Gly424Val) | |
X | g.108624255G>A | CA517924964 | COL4A5 | c.2937G>A (p.Gly979=) n.2393G>A c.170G>A c.2613G>A (p.Gly871=) c.510G>A (p.Gly170=) c.2952G>A (p.Gly984=) c.1272G>A (p.Gly424=) | ClinVar |
X | g.108624255G>C | CA517924966 | COL4A5 | c.2937G>C (p.Gly979=) n.2393G>C c.170G>C c.2613G>C (p.Gly871=) c.510G>C (p.Gly170=) c.2952G>C (p.Gly984=) c.1272G>C (p.Gly424=) | |
X | g.108624255G>T | CA517924967 | COL4A5 | c.2937G>T (p.Gly979=) n.2393G>T c.170G>T c.2613G>T (p.Gly871=) c.510G>T (p.Gly170=) c.2952G>T (p.Gly984=) c.1272G>T (p.Gly424=) | |
X | g.108624256C>A | CA413853220 | COL4A5 | c.2938C>A (p.Pro980Thr) n.2394C>A c.171C>A c.2614C>A (p.Pro872Thr) c.511C>A (p.Pro171Thr) c.2953C>A (p.Pro985Thr) c.1273C>A (p.Pro425Thr) | COSMIC COSMIC |
X | g.108624256C>G | CA413853221 | COL4A5 | c.2938C>G (p.Pro980Ala) n.2394C>G c.171C>G c.2614C>G (p.Pro872Ala) c.511C>G (p.Pro171Ala) c.2953C>G (p.Pro985Ala) c.1273C>G (p.Pro425Ala) | |
X | g.108624256C>T | CA413853222 | COL4A5 | c.2938C>T (p.Pro980Ser) n.2394C>T c.171C>T c.2614C>T (p.Pro872Ser) c.511C>T (p.Pro171Ser) c.2953C>T (p.Pro985Ser) c.1273C>T (p.Pro425Ser) | |
X | g.108624257C>A | CA413853224 | COL4A5 | c.2939C>A (p.Pro980Gln) n.2395C>A c.172C>A c.2615C>A (p.Pro872Gln) c.512C>A (p.Pro171Gln) c.2954C>A (p.Pro985Gln) c.1274C>A (p.Pro425Gln) | |
X | g.108624257C>G | CA413853226 | COL4A5 | c.2939C>G (p.Pro980Arg) n.2395C>G c.172C>G c.2615C>G (p.Pro872Arg) c.512C>G (p.Pro171Arg) c.2954C>G (p.Pro985Arg) c.1274C>G (p.Pro425Arg) | |
X | g.108624257C>T | CA413853228 | COL4A5 | c.2939C>T (p.Pro980Leu) n.2395C>T c.172C>T c.2615C>T (p.Pro872Leu) c.512C>T (p.Pro171Leu) c.2954C>T (p.Pro985Leu) c.1274C>T (p.Pro425Leu) | |
X | g.108624257_108624258delinsCA | CA2450697332 | COL4A5 | c.2939_2940delinsCA (p.Pro980=) n.2395_2396delinsCA c.172_173delinsCA c.2615_2616delinsCA (p.Pro872=) c.512_513delinsCA (p.Pro171=) c.2954_2955delinsCA (p.Pro985=) c.1274_1275delinsCA (p.Pro425=) | |
X | g.108624258A>C | CA517924969 | COL4A5 | c.2940A>C (p.Pro980=) n.2396A>C c.173A>C c.2616A>C (p.Pro872=) c.513A>C (p.Pro171=) c.2955A>C (p.Pro985=) c.1275A>C (p.Pro425=) | |
X | g.108624258A>G | CA517924970 | COL4A5 | c.2940A>G (p.Pro980=) n.2396A>G c.173A>G c.2616A>G (p.Pro872=) c.513A>G (p.Pro171=) c.2955A>G (p.Pro985=) c.1275A>G (p.Pro425=) | |
X | g.108624258A>T | CA517924971 | COL4A5 | c.2940A>T (p.Pro980=) n.2396A>T c.173A>T c.2616A>T (p.Pro872=) c.513A>T (p.Pro171=) c.2955A>T (p.Pro985=) c.1275A>T (p.Pro425=) | |
X | g.108624261del | CA258782 | COL4A5 | c.2943del (p.Gly982ValfsTer14) n.2399del c.176del c.2619del (p.Gly874ValfsTer14) c.516del (p.Gly173ValfsTer14) c.2958del (p.Gly987ValfsTer14) c.1278del (p.Gly427ValfsTer14) | dbSNP gnomAD v4 |
X | g.108624259A>C | CA413853232 | COL4A5 | c.2941A>C (p.Lys981Gln) n.2397A>C c.174A>C c.2617A>C (p.Lys873Gln) c.514A>C (p.Lys172Gln) c.2956A>C (p.Lys986Gln) c.1276A>C (p.Lys426Gln) | |
X | g.108624259A>G | CA413853231 | COL4A5 | c.2941A>G (p.Lys981Glu) n.2397A>G c.174A>G c.2617A>G (p.Lys873Glu) c.514A>G (p.Lys172Glu) c.2956A>G (p.Lys986Glu) c.1276A>G (p.Lys426Glu) | |
X | g.108624259A>T | CA413853234 | COL4A5 | c.2941A>T (p.Lys981Ter) n.2397A>T c.174A>T c.2617A>T (p.Lys873Ter) c.514A>T (p.Lys172Ter) c.2956A>T (p.Lys986Ter) c.1276A>T (p.Lys426Ter) | |
X | g.108624260A>C | CA413853236 | COL4A5 | c.2942A>C (p.Lys981Thr) n.2398A>C c.175A>C c.2618A>C (p.Lys873Thr) c.515A>C (p.Lys172Thr) c.2957A>C (p.Lys986Thr) c.1277A>C (p.Lys426Thr) | |
X | g.108624260A>G | CA413853237 | COL4A5 | c.2942A>G (p.Lys981Arg) n.2398A>G c.175A>G c.2618A>G (p.Lys873Arg) c.515A>G (p.Lys172Arg) c.2957A>G (p.Lys986Arg) c.1277A>G (p.Lys426Arg) | |
X | g.108624260A>T | CA413853239 | COL4A5 | c.2942A>T (p.Lys981Ile) n.2398A>T c.175A>T c.2618A>T (p.Lys873Ile) c.515A>T (p.Lys172Ile) c.2957A>T (p.Lys986Ile) c.1277A>T (p.Lys426Ile) | |
X | g.108624261A>C | CA413853241 | COL4A5 | c.2943A>C (p.Lys981Asn) n.2399A>C c.176A>C c.2619A>C (p.Lys873Asn) c.516A>C (p.Lys172Asn) c.2958A>C (p.Lys986Asn) c.1278A>C (p.Lys426Asn) | |
X | g.108624261A>G | CA517924974 | COL4A5 | c.2943A>G (p.Lys981=) n.2399A>G c.176A>G c.2619A>G (p.Lys873=) c.516A>G (p.Lys172=) c.2958A>G (p.Lys986=) c.1278A>G (p.Lys426=) | |
X | g.108624261A>T | CA413853246 | COL4A5 | c.2943A>T (p.Lys981Asn) n.2399A>T c.176A>T c.2619A>T (p.Lys873Asn) c.516A>T (p.Lys172Asn) c.2958A>T (p.Lys986Asn) c.1278A>T (p.Lys426Asn) | |
X | g.108624262G>A | CA413853248 | COL4A5 | c.2944G>A (p.Gly982Ser) n.2400G>A c.177G>A c.2620G>A (p.Gly874Ser) c.517G>A (p.Gly173Ser) c.2959G>A (p.Gly987Ser) c.1279G>A (p.Gly427Ser) | |
X | g.108624262G>C | CA413853249 | COL4A5 | c.2944G>C (p.Gly982Arg) n.2400G>C c.177G>C c.2620G>C (p.Gly874Arg) c.517G>C (p.Gly173Arg) c.2959G>C (p.Gly987Arg) c.1279G>C (p.Gly427Arg) | |
X | g.108624262G>T | CA413853250 | COL4A5 | c.2944G>T (p.Gly982Cys) n.2400G>T c.177G>T c.2620G>T (p.Gly874Cys) c.517G>T (p.Gly173Cys) c.2959G>T (p.Gly987Cys) c.1279G>T (p.Gly427Cys) | |
X | g.108624263G>A | CA413853254 | COL4A5 | c.2945G>A (p.Gly982Asp) n.2401G>A c.178G>A c.2621G>A (p.Gly874Asp) c.518G>A (p.Gly173Asp) c.2960G>A (p.Gly987Asp) c.1280G>A (p.Gly427Asp) | |
X | g.108624263G>C | CA413853257 | COL4A5 | c.2945G>C (p.Gly982Ala) n.2401G>C c.178G>C c.2621G>C (p.Gly874Ala) c.518G>C (p.Gly173Ala) c.2960G>C (p.Gly987Ala) c.1280G>C (p.Gly427Ala) | gnomAD v4 |
X | g.108624263G>T | CA413853258 | COL4A5 | c.2945G>T (p.Gly982Val) n.2401G>T c.178G>T c.2621G>T (p.Gly874Val) c.518G>T (p.Gly173Val) c.2960G>T (p.Gly987Val) c.1280G>T (p.Gly427Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108624263_108624264delinsGT | CA2450697333 | COL4A5 | c.2945_2946delinsGT (p.Gly982=) n.2401_2402delinsGT c.178_179delinsGT c.2621_2622delinsGT (p.Gly874=) c.518_519delinsGT (p.Gly173=) c.2960_2961delinsGT (p.Gly987=) c.1280_1281delinsGT (p.Gly427=) | |
X | g.108624264T>A | CA517924977 | COL4A5 | c.2946T>A (p.Gly982=) n.2402T>A c.179T>A c.2622T>A (p.Gly874=) c.519T>A (p.Gly173=) c.2961T>A (p.Gly987=) c.1281T>A (p.Gly427=) | |
X | g.108624264T>C | CA517924978 | COL4A5 | c.2946T>C (p.Gly982=) n.2402T>C c.179T>C c.2622T>C (p.Gly874=) c.519T>C (p.Gly173=) c.2961T>C (p.Gly987=) c.1281T>C (p.Gly427=) | ClinVar |
X | g.108624264T>G | CA517924976 | COL4A5 | c.2946T>G (p.Gly982=) n.2402T>G c.179T>G c.2622T>G (p.Gly874=) c.519T>G (p.Gly173=) c.2961T>G (p.Gly987=) c.1281T>G (p.Gly427=) | |
X | g.108624265dup | CA2695235748 | COL4A5 | c.2947dup (p.Tyr983LeufsTer28) n.2403dup c.180dup c.2623dup (p.Tyr875LeufsTer28) c.520dup (p.Tyr174LeufsTer28) c.2962dup (p.Tyr988LeufsTer28) c.1282dup (p.Tyr428LeufsTer28) | |
X | g.108624265del | CA261089 | COL4A5 | c.2947del (p.Tyr983IlefsTer13) n.2403del c.180del c.2623del (p.Tyr875IlefsTer13) c.520del (p.Tyr174IlefsTer13) c.2962del (p.Tyr988IlefsTer13) c.1282del (p.Tyr428IlefsTer13) | dbSNP |
X | g.108624265T>A | CA413853267 | COL4A5 | c.2947T>A (p.Tyr983Asn) n.2403T>A c.180T>A c.2623T>A (p.Tyr875Asn) c.520T>A (p.Tyr174Asn) c.2962T>A (p.Tyr988Asn) c.1282T>A (p.Tyr428Asn) | |
X | g.108624265T>C | CA413853265 | COL4A5 | c.2947T>C (p.Tyr983His) n.2403T>C c.180T>C c.2623T>C (p.Tyr875His) c.520T>C (p.Tyr174His) c.2962T>C (p.Tyr988His) c.1282T>C (p.Tyr428His) | |
X | g.108624265T>G | CA413853266 | COL4A5 | c.2947T>G (p.Tyr983Asp) n.2403T>G c.180T>G c.2623T>G (p.Tyr875Asp) c.520T>G (p.Tyr174Asp) c.2962T>G (p.Tyr988Asp) c.1282T>G (p.Tyr428Asp) | |
X | g.108624266A= | CA2450697334 | COL4A5 | c.2948A= (p.Tyr983=) n.2404A= c.181A= c.2624A= (p.Tyr875=) c.521A= (p.Tyr174=) c.2963A= (p.Tyr988=) c.1283A= (p.Tyr428=) | |
X | g.108624266A>C | CA413853268 | COL4A5 | c.2948A>C (p.Tyr983Ser) n.2404A>C c.181A>C c.2624A>C (p.Tyr875Ser) c.521A>C (p.Tyr174Ser) c.2963A>C (p.Tyr988Ser) c.1283A>C (p.Tyr428Ser) | |
X | g.108624266A>G | CA413853269 | COL4A5 | c.2948A>G (p.Tyr983Cys) n.2404A>G c.181A>G c.2624A>G (p.Tyr875Cys) c.521A>G (p.Tyr174Cys) c.2963A>G (p.Tyr988Cys) c.1283A>G (p.Tyr428Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.108624266A>T | CA413853271 | COL4A5 | c.2948A>T (p.Tyr983Phe) n.2404A>T c.181A>T c.2624A>T (p.Tyr875Phe) c.521A>T (p.Tyr174Phe) c.2963A>T (p.Tyr988Phe) c.1283A>T (p.Tyr428Phe) | |
X | g.108624267T>A | CA413853272 | COL4A5 | c.2949T>A (p.Tyr983Ter) n.2405T>A c.182T>A c.2625T>A (p.Tyr875Ter) c.522T>A (p.Tyr174Ter) c.2964T>A (p.Tyr988Ter) c.1284T>A (p.Tyr428Ter) | ClinVar dbSNP |
X | g.108624267T>C | CA517924982 | COL4A5 | c.2949T>C (p.Tyr983=) n.2405T>C c.182T>C c.2625T>C (p.Tyr875=) c.522T>C (p.Tyr174=) c.2964T>C (p.Tyr988=) c.1284T>C (p.Tyr428=) | |
X | g.108624267T>G | CA413853274 | COL4A5 | c.2949T>G (p.Tyr983Ter) n.2405T>G c.182T>G c.2625T>G (p.Tyr875Ter) c.522T>G (p.Tyr174Ter) c.2964T>G (p.Tyr988Ter) c.1284T>G (p.Tyr428Ter) | |
X | g.108624267T= | CA2450697335 | COL4A5 | c.2949T= (p.Tyr983=) n.2405T= c.182T= c.2625T= (p.Tyr875=) c.522T= (p.Tyr174=) c.2964T= (p.Tyr988=) c.1284T= (p.Tyr428=) | |
X | g.108624268C>A | CA413853276 | COL4A5 | c.2950C>A (p.Gln984Lys) n.2406C>A c.183C>A c.2626C>A (p.Gln876Lys) c.523C>A (p.Gln175Lys) c.2965C>A (p.Gln989Lys) c.1285C>A (p.Gln429Lys) | |
X | g.108624268C>G | CA413853277 | COL4A5 | c.2950C>G (p.Gln984Glu) n.2406C>G c.183C>G c.2626C>G (p.Gln876Glu) c.523C>G (p.Gln175Glu) c.2965C>G (p.Gln989Glu) c.1285C>G (p.Gln429Glu) | |
X | g.108624268C>T | CA413853284 | COL4A5 | c.2950C>T (p.Gln984Ter) n.2406C>T c.183C>T c.2626C>T (p.Gln876Ter) c.523C>T (p.Gln175Ter) c.2965C>T (p.Gln989Ter) c.1285C>T (p.Gln429Ter) | ClinVar dbSNP |
X | g.108624269A= | CA2450697336 | COL4A5 | c.2951A= (p.Gln984=) n.2407A= c.184A= c.2627A= (p.Gln876=) c.524A= (p.Gln175=) c.2966A= (p.Gln989=) c.1286A= (p.Gln429=) | |
X | g.108624269A>C | CA413853286 | COL4A5 | c.2951A>C (p.Gln984Pro) n.2407A>C c.184A>C c.2627A>C (p.Gln876Pro) c.524A>C (p.Gln175Pro) c.2966A>C (p.Gln989Pro) c.1286A>C (p.Gln429Pro) | |
X | g.108624269A>G | CA413853287 | COL4A5 | c.2951A>G (p.Gln984Arg) n.2407A>G c.184A>G c.2627A>G (p.Gln876Arg) c.524A>G (p.Gln175Arg) c.2966A>G (p.Gln989Arg) c.1286A>G (p.Gln429Arg) | dbSNP gnomAD v4 |
X | g.108624269A>T | CA10489005 | COL4A5 | c.2951A>T (p.Gln984Leu) n.2407A>T c.184A>T c.2627A>T (p.Gln876Leu) c.524A>T (p.Gln175Leu) c.2966A>T (p.Gln989Leu) c.1286A>T (p.Gln429Leu) | dbSNP ExAC gnomAD v2 |
X | g.108624270G>A | CA517924987 | COL4A5 | c.2952G>A (p.Gln984=) n.2408G>A c.185G>A c.2628G>A (p.Gln876=) c.525G>A (p.Gln175=) c.2967G>A (p.Gln989=) c.1287G>A (p.Gln429=) | |
X | g.108624270G>C | CA413853289 | COL4A5 | c.2952G>C (p.Gln984His) n.2408G>C c.185G>C c.2628G>C (p.Gln876His) c.525G>C (p.Gln175His) c.2967G>C (p.Gln989His) c.1287G>C (p.Gln429His) | |
X | g.108624270G>T | CA413853288 | COL4A5 | c.2952G>T (p.Gln984His) n.2408G>T c.185G>T c.2628G>T (p.Gln876His) c.525G>T (p.Gln175His) c.2967G>T (p.Gln989His) c.1287G>T (p.Gln429His) | |
X | g.108624272del | CA2695197173 | COL4A5 | c.2954del (p.Gly985ValfsTer11) n.2410del c.187del c.2630del (p.Gly877ValfsTer11) c.527del (p.Gly176ValfsTer11) c.2969del (p.Gly990ValfsTer11) c.1289del (p.Gly430ValfsTer11) | ClinVar |
X | g.108624271G>A | CA413853291 | COL4A5 | c.2953G>A (p.Gly985Ser) n.2409G>A c.186G>A c.2629G>A (p.Gly877Ser) c.526G>A (p.Gly176Ser) c.2968G>A (p.Gly990Ser) c.1288G>A (p.Gly430Ser) | |
X | g.108624271G>C | CA413853294 | COL4A5 | c.2953G>C (p.Gly985Arg) n.2409G>C c.186G>C c.2629G>C (p.Gly877Arg) c.526G>C (p.Gly176Arg) c.2968G>C (p.Gly990Arg) c.1288G>C (p.Gly430Arg) | |
X | g.108624271G>T | CA413853295 | COL4A5 | c.2953G>T (p.Gly985Cys) n.2409G>T c.186G>T c.2629G>T (p.Gly877Cys) c.526G>T (p.Gly176Cys) c.2968G>T (p.Gly990Cys) c.1288G>T (p.Gly430Cys) | COSMIC COSMIC |
X | g.108624272G>A | CA413853298 | COL4A5 | c.2954G>A (p.Gly985Asp) n.2410G>A c.187G>A c.2630G>A (p.Gly877Asp) c.527G>A (p.Gly176Asp) c.2969G>A (p.Gly990Asp) c.1289G>A (p.Gly430Asp) | |
X | g.108624272G>C | CA413853299 | COL4A5 | c.2954G>C (p.Gly985Ala) n.2410G>C c.187G>C c.2630G>C (p.Gly877Ala) c.527G>C (p.Gly176Ala) c.2969G>C (p.Gly990Ala) c.1289G>C (p.Gly430Ala) | |
X | g.108624272G>T | CA413853300 | COL4A5 | c.2954G>T (p.Gly985Val) n.2410G>T c.187G>T c.2630G>T (p.Gly877Val) c.527G>T (p.Gly176Val) c.2969G>T (p.Gly990Val) c.1289G>T (p.Gly430Val) | |
X | g.108624273T>A | CA517924992 | COL4A5 | c.2955T>A (p.Gly985=) n.2411T>A c.188T>A c.2631T>A (p.Gly877=) c.528T>A (p.Gly176=) c.2970T>A (p.Gly990=) c.1290T>A (p.Gly430=) | |
X | g.108624273T>C | CA517924993 | COL4A5 | c.2955T>C (p.Gly985=) n.2411T>C c.188T>C c.2631T>C (p.Gly877=) c.528T>C (p.Gly176=) c.2970T>C (p.Gly990=) c.1290T>C (p.Gly430=) | |
X | g.108624273T>G | CA517924994 | COL4A5 | c.2955T>G (p.Gly985=) n.2411T>G c.188T>G c.2631T>G (p.Gly877=) c.528T>G (p.Gly176=) c.2970T>G (p.Gly990=) c.1290T>G (p.Gly430=) | |
X | g.108624274T>A | CA413853301 | COL4A5 | c.2956T>A (p.Leu986Met) n.2412T>A c.189T>A c.2632T>A (p.Leu878Met) c.529T>A (p.Leu177Met) c.2971T>A (p.Leu991Met) c.1291T>A (p.Leu431Met) | |
X | g.108624274T>C | CA517924995 | COL4A5 | c.2956T>C (p.Leu986=) n.2412T>C c.189T>C c.2632T>C (p.Leu878=) c.529T>C (p.Leu177=) c.2971T>C (p.Leu991=) c.1291T>C (p.Leu431=) | |
X | g.108624274T>G | CA413853303 | COL4A5 | c.2956T>G (p.Leu986Val) n.2412T>G c.189T>G c.2632T>G (p.Leu878Val) c.529T>G (p.Leu177Val) c.2971T>G (p.Leu991Val) c.1291T>G (p.Leu431Val) | |
X | g.108624275T>A | CA413853305 | COL4A5 | c.2957T>A (p.Leu986Ter) n.2413T>A c.190T>A c.2633T>A (p.Leu878Ter) c.530T>A (p.Leu177Ter) c.2972T>A (p.Leu991Ter) c.1292T>A (p.Leu431Ter) | ClinVar dbSNP |
X | g.108624275T>C | CA413853307 | COL4A5 | c.2957T>C (p.Leu986Ser) n.2413T>C c.190T>C c.2633T>C (p.Leu878Ser) c.530T>C (p.Leu177Ser) c.2972T>C (p.Leu991Ser) c.1292T>C (p.Leu431Ser) | |
X | g.108624275T>G | CA413853309 | COL4A5 | c.2957T>G (p.Leu986Trp) n.2413T>G c.190T>G c.2633T>G (p.Leu878Trp) c.530T>G (p.Leu177Trp) c.2972T>G (p.Leu991Trp) c.1292T>G (p.Leu431Trp) | |
X | g.108624275T= | CA2450697338 | COL4A5 | c.2957T= (p.Leu986=) n.2413T= c.190T= c.2633T= (p.Leu878=) c.530T= (p.Leu177=) c.2972T= (p.Leu991=) c.1292T= (p.Leu431=) | |
X | g.108624275_108624293delinsTGCCTGGAGACCCAGGGCA | CA2450697337 | COL4A5 | c.2957_2975delinsTGCCTGGAGACCCAGGGCA (p.Leu986=) n.2413_2431delinsTGCCTGGAGACCCAGGGCA c.190_208delinsTGCCTGGAGACCCAGGGCA c.2633_2651delinsTGCCTGGAGACCCAGGGCA (p.Leu878=) c.530_548delinsTGCCTGGAGACCCAGGGCA (p.Leu177=) c.2972_2990delinsTGCCTGGAGACCCAGGGCA (p.Leu991=) c.1292_1310delinsTGCCTGGAGACCCAGGGCA (p.Leu431=) | |
X | g.108624276G>A | CA517924998 | COL4A5 | c.2958G>A (p.Leu986=) n.2414G>A c.191G>A c.2634G>A (p.Leu878=) c.531G>A (p.Leu177=) c.2973G>A (p.Leu991=) c.1293G>A (p.Leu431=) | |
X | g.108624276G>C | CA413853312 | COL4A5 | c.2958G>C (p.Leu986Phe) n.2414G>C c.191G>C c.2634G>C (p.Leu878Phe) c.531G>C (p.Leu177Phe) c.2973G>C (p.Leu991Phe) c.1293G>C (p.Leu431Phe) | |
X | g.108624276G= | CA2450697339 | COL4A5 | c.2958G= (p.Leu986=) n.2414G= c.191G= c.2634G= (p.Leu878=) c.531G= (p.Leu177=) c.2973G= (p.Leu991=) c.1293G= (p.Leu431=) | |
X | g.108624276G>T | CA334051495 | COL4A5 | c.2958G>T (p.Leu986Phe) n.2414G>T c.191G>T c.2634G>T (p.Leu878Phe) c.531G>T (p.Leu177Phe) c.2973G>T (p.Leu991Phe) c.1293G>T (p.Leu431Phe) | dbSNP gnomAD v4 |
X | g.108624276_108624293del | CA658799838 | COL4A5 | c.2958_2975del (p.Pro987_Gln992del) n.2414_2431del c.191_208del c.2634_2651del (p.Pro879_Gln884del) c.531_548del (p.Pro178_Gln183del) c.2973_2990del (p.Pro992_Gln997del) c.1293_1310del (p.Pro432_Gln437del) | ClinVar dbSNP |
X | g.108624276_108624294delinsGCCTGGAGACCCAGGGCAA | CA2450697340 | COL4A5 | c.2958_2976delinsGCCTGGAGACCCAGGGCAA (p.Leu986=) n.2414_2432delinsGCCTGGAGACCCAGGGCAA c.191_209delinsGCCTGGAGACCCAGGGCAA c.2634_2652delinsGCCTGGAGACCCAGGGCAA (p.Leu878=) c.531_549delinsGCCTGGAGACCCAGGGCAA (p.Leu177=) c.2973_2991delinsGCCTGGAGACCCAGGGCAA (p.Leu991=) c.1293_1311delinsGCCTGGAGACCCAGGGCAA (p.Leu431=) | |
X | g.108624277C>A | CA413853336 | COL4A5 | c.2959C>A (p.Pro987Thr) n.2415C>A c.192C>A c.2635C>A (p.Pro879Thr) c.532C>A (p.Pro178Thr) c.2974C>A (p.Pro992Thr) c.1294C>A (p.Pro432Thr) | ClinVar gnomAD v4 |
X | g.108624277C>G | CA413853335 | COL4A5 | c.2959C>G (p.Pro987Ala) n.2415C>G c.192C>G c.2635C>G (p.Pro879Ala) c.532C>G (p.Pro178Ala) c.2974C>G (p.Pro992Ala) c.1294C>G (p.Pro432Ala) | |
X | g.108624277C>T | CA413853317 | COL4A5 | c.2959C>T (p.Pro987Ser) n.2415C>T c.192C>T c.2635C>T (p.Pro879Ser) c.532C>T (p.Pro178Ser) c.2974C>T (p.Pro992Ser) c.1294C>T (p.Pro432Ser) | |
X | g.108624283_108624300del | CA258783 | COL4A5 | c.2965_2982del (p.Asp989_Gly994del) n.2421_2438del c.198_215del c.2641_2658del (p.Asp881_Gly886del) c.538_555del (p.Asp180_Gly185del) c.2980_2997del (p.Asp994_Gly999del) c.1300_1317del (p.Asp434_Gly439del) | ClinVar dbSNP |
X | g.108624278C>A | CA413853351 | COL4A5 | c.2960C>A (p.Pro987His) n.2416C>A c.193C>A c.2636C>A (p.Pro879His) c.533C>A (p.Pro178His) c.2975C>A (p.Pro992His) c.1295C>A (p.Pro432His) | |
X | g.108624278C>G | CA413853357 | COL4A5 | c.2960C>G (p.Pro987Arg) n.2416C>G c.193C>G c.2636C>G (p.Pro879Arg) c.533C>G (p.Pro178Arg) c.2975C>G (p.Pro992Arg) c.1295C>G (p.Pro432Arg) | |
X | g.108624278C>T | CA413853358 | COL4A5 | c.2960C>T (p.Pro987Leu) n.2416C>T c.193C>T c.2636C>T (p.Pro879Leu) c.533C>T (p.Pro178Leu) c.2975C>T (p.Pro992Leu) c.1295C>T (p.Pro432Leu) | |
X | g.108624279T>A | CA517925004 | COL4A5 | c.2961T>A (p.Pro987=) n.2417T>A c.194T>A c.2637T>A (p.Pro879=) c.534T>A (p.Pro178=) c.2976T>A (p.Pro992=) c.1296T>A (p.Pro432=) | |
X | g.108624279T>C | CA517925005 | COL4A5 | c.2961T>C (p.Pro987=) n.2417T>C c.194T>C c.2637T>C (p.Pro879=) c.534T>C (p.Pro178=) c.2976T>C (p.Pro992=) c.1296T>C (p.Pro432=) | |
X | g.108624279T>G | CA517925006 | COL4A5 | c.2961T>G (p.Pro987=) n.2417T>G c.194T>G c.2637T>G (p.Pro879=) c.534T>G (p.Pro178=) c.2976T>G (p.Pro992=) c.1296T>G (p.Pro432=) | dbSNP |
X | g.108624279T= | CA2450697341 | COL4A5 | c.2961T= (p.Pro987=) n.2417T= c.194T= c.2637T= (p.Pro879=) c.534T= (p.Pro178=) c.2976T= (p.Pro992=) c.1296T= (p.Pro432=) | |
X | g.108624280G>A | CA413853360 | COL4A5 | c.2962G>A (p.Gly988Arg) n.2418G>A c.195G>A c.2638G>A (p.Gly880Arg) c.535G>A (p.Gly179Arg) c.2977G>A (p.Gly993Arg) c.1297G>A (p.Gly433Arg) | |
X | g.108624280G>C | CA413853361 | COL4A5 | c.2962G>C (p.Gly988Arg) n.2418G>C c.195G>C c.2638G>C (p.Gly880Arg) c.535G>C (p.Gly179Arg) c.2977G>C (p.Gly993Arg) c.1297G>C (p.Gly433Arg) | |
X | g.108624280G>T | CA413853363 | COL4A5 | c.2962G>T (p.Gly988Ter) n.2418G>T c.195G>T c.2638G>T (p.Gly880Ter) c.535G>T (p.Gly179Ter) c.2977G>T (p.Gly993Ter) c.1297G>T (p.Gly433Ter) | ClinVar |
X | g.108624281G>A | CA413853377 | COL4A5 | c.2963G>A (p.Gly988Glu) n.2419G>A c.196G>A c.2639G>A (p.Gly880Glu) c.536G>A (p.Gly179Glu) c.2978G>A (p.Gly993Glu) c.1298G>A (p.Gly433Glu) | ClinVar dbSNP |
X | g.108624281G>C | CA413853382 | COL4A5 | c.2963G>C (p.Gly988Ala) n.2419G>C c.196G>C c.2639G>C (p.Gly880Ala) c.536G>C (p.Gly179Ala) c.2978G>C (p.Gly993Ala) c.1298G>C (p.Gly433Ala) | |
X | g.108624281G= | CA2450697342 | COL4A5 | c.2963G= (p.Gly988=) n.2419G= c.196G= c.2639G= (p.Gly880=) c.536G= (p.Gly179=) c.2978G= (p.Gly993=) c.1298G= (p.Gly433=) | |
X | g.108624281G>T | CA413853379 | COL4A5 | c.2963G>T (p.Gly988Val) n.2419G>T c.196G>T c.2639G>T (p.Gly880Val) c.536G>T (p.Gly179Val) c.2978G>T (p.Gly993Val) c.1298G>T (p.Gly433Val) | |
X | g.108624282A>C | CA517925011 | COL4A5 | c.2964A>C (p.Gly988=) n.2420A>C c.197A>C c.2640A>C (p.Gly880=) c.537A>C (p.Gly179=) c.2979A>C (p.Gly993=) c.1299A>C (p.Gly433=) | |
X | g.108624282A>G | CA517925014 | COL4A5 | c.2964A>G (p.Gly988=) n.2420A>G c.197A>G c.2640A>G (p.Gly880=) c.537A>G (p.Gly179=) c.2979A>G (p.Gly993=) c.1299A>G (p.Gly433=) | |
X | g.108624282A>T | CA517925016 | COL4A5 | c.2964A>T (p.Gly988=) n.2420A>T c.197A>T c.2640A>T (p.Gly880=) c.537A>T (p.Gly179=) c.2979A>T (p.Gly993=) c.1299A>T (p.Gly433=) | |
X | g.108624282_108624283delinsAG | CA2450697343 | COL4A5 | c.2964_2965delinsAG (p.Gly988=) n.2420_2421delinsAG c.197_198delinsAG c.2640_2641delinsAG (p.Gly880=) c.537_538delinsAG (p.Gly179=) c.2979_2980delinsAG (p.Gly993=) c.1299_1300delinsAG (p.Gly433=) | |
X | g.108624283del | CA258786 | COL4A5 | c.2965del (p.Asp989ThrfsTer7) n.2421del c.198del c.2641del (p.Asp881ThrfsTer7) c.538del (p.Asp180ThrfsTer7) c.2980del (p.Asp994ThrfsTer7) c.1300del (p.Asp434ThrfsTer7) | dbSNP |
X | g.108624283G>A | CA413853386 | COL4A5 | c.2965G>A (p.Asp989Asn) n.2421G>A c.198G>A c.2641G>A (p.Asp881Asn) c.538G>A (p.Asp180Asn) c.2980G>A (p.Asp994Asn) c.1300G>A (p.Asp434Asn) | |
X | g.108624283G>C | CA413853387 | COL4A5 | c.2965G>C (p.Asp989His) n.2421G>C c.198G>C c.2641G>C (p.Asp881His) c.538G>C (p.Asp180His) c.2980G>C (p.Asp994His) c.1300G>C (p.Asp434His) | |
X | g.108624283G= | CA2580701032 | COL4A5 | c.2965G= (p.Asp989=) n.2421G= c.198G= c.2641G= (p.Asp881=) c.538G= (p.Asp180=) c.2980G= (p.Asp994=) c.1300G= (p.Asp434=) | |
X | g.108624283G>T | CA413853388 | COL4A5 | c.2965G>T (p.Asp989Tyr) n.2421G>T c.198G>T c.2641G>T (p.Asp881Tyr) c.538G>T (p.Asp180Tyr) c.2980G>T (p.Asp994Tyr) c.1300G>T (p.Asp434Tyr) | |
X | g.108624283_108624286delinsCTGAGTGCCCAGT | CA2695235749 | COL4A5 | c.2965_2968delinsCTGAGTGCCCAGT (p.Asp989_Pro990delinsLeuSerAlaGlnSer) n.2421_2424delinsCTGAGTGCCCAGT c.198_201delinsCTGAGTGCCCAGT c.2641_2644delinsCTGAGTGCCCAGT (p.Asp881_Pro882delinsLeuSerAlaGlnSer) c.538_541delinsCTGAGTGCCCAGT (p.Asp180_Pro181delinsLeuSerAlaGlnSer) c.2980_2983delinsCTGAGTGCCCAGT (p.Asp994_Pro995delinsLeuSerAlaGlnSer) c.1300_1303delinsCTGAGTGCCCAGT (p.Asp434_Pro435delinsLeuSerAlaGlnSer) | |
X | g.108624284A>C | CA413853389 | COL4A5 | c.2966A>C (p.Asp989Ala) n.2422A>C c.199A>C c.2642A>C (p.Asp881Ala) c.539A>C (p.Asp180Ala) c.2981A>C (p.Asp994Ala) c.1301A>C (p.Asp434Ala) | |
X | g.108624284A>G | CA413853394 | COL4A5 | c.2966A>G (p.Asp989Gly) n.2422A>G c.199A>G c.2642A>G (p.Asp881Gly) c.539A>G (p.Asp180Gly) c.2981A>G (p.Asp994Gly) c.1301A>G (p.Asp434Gly) | |
X | g.108624284A>T | CA413853391 | COL4A5 | c.2966A>T (p.Asp989Val) n.2422A>T c.199A>T c.2642A>T (p.Asp881Val) c.539A>T (p.Asp180Val) c.2981A>T (p.Asp994Val) c.1301A>T (p.Asp434Val) | |
X | g.108624284_108624301dup | CA2694440385 | COL4A5 | c.2966_2983dup (p.Gly994_Leu995insHisProGlyGlnProGly) n.2422_2439dup c.199_216dup c.2642_2659dup (p.Gly886_Leu887insHisProGlyGlnProGly) c.539_556dup (p.Gly185_Leu186insHisProGlyGlnProGly) c.2981_2998dup (p.Gly999_Leu1000insHisProGlyGlnProGly) c.1301_1318dup (p.Gly439_Leu440insHisProGlyGlnProGly) | gnomAD v4 |
X | g.108624285C>A | CA413853397 | COL4A5 | c.2967C>A (p.Asp989Glu) n.2423C>A c.200C>A c.2643C>A (p.Asp881Glu) c.540C>A (p.Asp180Glu) c.2982C>A (p.Asp994Glu) c.1302C>A (p.Asp434Glu) | |
X | g.108624285C>G | CA413853399 | COL4A5 | c.2967C>G (p.Asp989Glu) n.2423C>G c.200C>G c.2643C>G (p.Asp881Glu) c.540C>G (p.Asp180Glu) c.2982C>G (p.Asp994Glu) c.1302C>G (p.Asp434Glu) | |
X | g.108624285C>T | CA517925024 | COL4A5 | c.2967C>T (p.Asp989=) n.2423C>T c.200C>T c.2643C>T (p.Asp881=) c.540C>T (p.Asp180=) c.2982C>T (p.Asp994=) c.1302C>T (p.Asp434=) | gnomAD v4 |
X | g.108624286C>A | CA413853402 | COL4A5 | c.2968C>A (p.Pro990Thr) n.2424C>A c.201C>A c.2644C>A (p.Pro882Thr) c.541C>A (p.Pro181Thr) c.2983C>A (p.Pro995Thr) c.1303C>A (p.Pro435Thr) | COSMIC |
X | g.108624286C>G | CA413853406 | COL4A5 | c.2968C>G (p.Pro990Ala) n.2424C>G c.201C>G c.2644C>G (p.Pro882Ala) c.541C>G (p.Pro181Ala) c.2983C>G (p.Pro995Ala) c.1303C>G (p.Pro435Ala) | |
X | g.108624286C>T | CA413853407 | COL4A5 | c.2968C>T (p.Pro990Ser) n.2424C>T c.201C>T c.2644C>T (p.Pro882Ser) c.541C>T (p.Pro181Ser) c.2983C>T (p.Pro995Ser) c.1303C>T (p.Pro435Ser) | COSMIC COSMIC |
X | g.108624287C>A | CA413853415 | COL4A5 | c.2969C>A (p.Pro990Gln) n.2425C>A c.202C>A c.2645C>A (p.Pro882Gln) c.542C>A (p.Pro181Gln) c.2984C>A (p.Pro995Gln) c.1304C>A (p.Pro435Gln) | |
X | g.108624287C>G | CA413853413 | COL4A5 | c.2969C>G (p.Pro990Arg) n.2425C>G c.202C>G c.2645C>G (p.Pro882Arg) c.542C>G (p.Pro181Arg) c.2984C>G (p.Pro995Arg) c.1304C>G (p.Pro435Arg) | |
X | g.108624287C>T | CA413853410 | COL4A5 | c.2969C>T (p.Pro990Leu) n.2425C>T c.202C>T c.2645C>T (p.Pro882Leu) c.542C>T (p.Pro181Leu) c.2984C>T (p.Pro995Leu) c.1304C>T (p.Pro435Leu) | |
X | g.108624288A>C | CA517925035 | COL4A5 | c.2970A>C (p.Pro990=) n.2426A>C c.203A>C c.2646A>C (p.Pro882=) c.543A>C (p.Pro181=) c.2985A>C (p.Pro995=) c.1305A>C (p.Pro435=) | |
X | g.108624288A>G | CA517925036 | COL4A5 | c.2970A>G (p.Pro990=) n.2426A>G c.203A>G c.2646A>G (p.Pro882=) c.543A>G (p.Pro181=) c.2985A>G (p.Pro995=) c.1305A>G (p.Pro435=) | |
X | g.108624288A>T | CA517925037 | COL4A5 | c.2970A>T (p.Pro990=) n.2426A>T c.203A>T c.2646A>T (p.Pro882=) c.543A>T (p.Pro181=) c.2985A>T (p.Pro995=) c.1305A>T (p.Pro435=) | |
X | g.108624289G>A | CA413853418 | COL4A5 | c.2971G>A (p.Gly991Arg) n.2427G>A c.204G>A c.2647G>A (p.Gly883Arg) c.544G>A (p.Gly182Arg) c.2986G>A (p.Gly996Arg) c.1306G>A (p.Gly436Arg) | |
X | g.108624289G>C | CA413853419 | COL4A5 | c.2971G>C (p.Gly991Arg) n.2427G>C c.204G>C c.2647G>C (p.Gly883Arg) c.544G>C (p.Gly182Arg) c.2986G>C (p.Gly996Arg) c.1306G>C (p.Gly436Arg) | |
X | g.108624289G>T | CA413853421 | COL4A5 | c.2971G>T (p.Gly991Trp) n.2427G>T c.204G>T c.2647G>T (p.Gly883Trp) c.544G>T (p.Gly182Trp) c.2986G>T (p.Gly996Trp) c.1306G>T (p.Gly436Trp) | |
X | g.108624290G>A | CA413853424 | COL4A5 | c.2972G>A (p.Gly991Glu) n.2428G>A c.205G>A c.2648G>A (p.Gly883Glu) c.545G>A (p.Gly182Glu) c.2987G>A (p.Gly996Glu) c.1307G>A (p.Gly436Glu) | gnomAD v4 |
X | g.108624290G>C | CA413853425 | COL4A5 | c.2972G>C (p.Gly991Ala) n.2428G>C c.205G>C c.2648G>C (p.Gly883Ala) c.545G>C (p.Gly182Ala) c.2987G>C (p.Gly996Ala) c.1307G>C (p.Gly436Ala) | |
X | g.108624290G>T | CA413853431 | COL4A5 | c.2972G>T (p.Gly991Val) n.2428G>T c.205G>T c.2648G>T (p.Gly883Val) c.545G>T (p.Gly182Val) c.2987G>T (p.Gly996Val) c.1307G>T (p.Gly436Val) | |
X | g.108624291G>A | CA517925047 | COL4A5 | c.2973G>A (p.Gly991=) n.2429G>A c.206G>A c.2649G>A (p.Gly883=) c.546G>A (p.Gly182=) c.2988G>A (p.Gly996=) c.1308G>A (p.Gly436=) | |
X | g.108624291G>C | CA517925045 | COL4A5 | c.2973G>C (p.Gly991=) n.2429G>C c.206G>C c.2649G>C (p.Gly883=) c.546G>C (p.Gly182=) c.2988G>C (p.Gly996=) c.1308G>C (p.Gly436=) | |
X | g.108624291G>T | CA517925046 | COL4A5 | c.2973G>T (p.Gly991=) n.2429G>T c.206G>T c.2649G>T (p.Gly883=) c.546G>T (p.Gly182=) c.2988G>T (p.Gly996=) c.1308G>T (p.Gly436=) | |
X | g.108624292C>A | CA413853435 | COL4A5 | c.2974C>A (p.Gln992Lys) n.2430C>A c.207C>A c.2650C>A (p.Gln884Lys) c.547C>A (p.Gln183Lys) c.2989C>A (p.Gln997Lys) c.1309C>A (p.Gln437Lys) | |
X | g.108624292C>G | CA413853439 | COL4A5 | c.2974C>G (p.Gln992Glu) n.2430C>G c.207C>G c.2650C>G (p.Gln884Glu) c.547C>G (p.Gln183Glu) c.2989C>G (p.Gln997Glu) c.1309C>G (p.Gln437Glu) | |
X | g.108624292C>T | CA413853436 | COL4A5 | c.2974C>T (p.Gln992Ter) n.2430C>T c.207C>T c.2650C>T (p.Gln884Ter) c.547C>T (p.Gln183Ter) c.2989C>T (p.Gln997Ter) c.1309C>T (p.Gln437Ter) | ClinVar dbSNP |
X | g.108624292_108624299delinsCAACCTGG | CA2450697344 | COL4A5 | c.2974_2981delinsCAACCTGG (p.Gln992=) n.2430_2437delinsCAACCTGG c.207_214delinsCAACCTGG c.2650_2657delinsCAACCTGG (p.Gln884=) c.547_554delinsCAACCTGG (p.Gln183=) c.2989_2996delinsCAACCTGG (p.Gln997=) c.1309_1316delinsCAACCTGG (p.Gln437=) | |
X | g.108624293A>C | CA413853443 | COL4A5 | c.2975A>C (p.Gln992Pro) n.2431A>C c.208A>C c.2651A>C (p.Gln884Pro) c.548A>C (p.Gln183Pro) c.2990A>C (p.Gln997Pro) c.1310A>C (p.Gln437Pro) | |
X | g.108624293A>G | CA413853449 | COL4A5 | c.2975A>G (p.Gln992Arg) n.2431A>G c.208A>G c.2651A>G (p.Gln884Arg) c.548A>G (p.Gln183Arg) c.2990A>G (p.Gln997Arg) c.1310A>G (p.Gln437Arg) | |
X | g.108624293A>T | CA413853454 | COL4A5 | c.2975A>T (p.Gln992Leu) n.2431A>T c.208A>T c.2651A>T (p.Gln884Leu) c.548A>T (p.Gln183Leu) c.2990A>T (p.Gln997Leu) c.1310A>T (p.Gln437Leu) | |
X | g.108624294_108624300del | CA891843948 | COL4A5 | c.2976_2982del (p.Gln992HisfsTer2) n.2432_2438del c.209_215del c.2652_2658del (p.Gln884HisfsTer2) c.549_555del (p.Gln183HisfsTer2) c.2991_2997del (p.Gln997HisfsTer2) c.1311_1317del (p.Gln437HisfsTer2) | |
X | g.108624294A>C | CA413853458 | COL4A5 | c.2976A>C (p.Gln992His) n.2432A>C c.209A>C c.2652A>C (p.Gln884His) c.549A>C (p.Gln183His) c.2991A>C (p.Gln997His) c.1311A>C (p.Gln437His) | |
X | g.108624294A>G | CA517925049 | COL4A5 | c.2976A>G (p.Gln992=) n.2432A>G c.209A>G c.2652A>G (p.Gln884=) c.549A>G (p.Gln183=) c.2991A>G (p.Gln997=) c.1311A>G (p.Gln437=) | |
X | g.108624294A>T | CA413853461 | COL4A5 | c.2976A>T (p.Gln992His) n.2432A>T c.209A>T c.2652A>T (p.Gln884His) c.549A>T (p.Gln183His) c.2991A>T (p.Gln997His) c.1311A>T (p.Gln437His) | |
X | g.108624295C>A | CA413853464 | COL4A5 | c.2977C>A (p.Pro993Thr) n.2433C>A c.210C>A c.2653C>A (p.Pro885Thr) c.550C>A (p.Pro184Thr) c.2992C>A (p.Pro998Thr) c.1312C>A (p.Pro438Thr) | |
X | g.108624295C>G | CA413853467 | COL4A5 | c.2977C>G (p.Pro993Ala) n.2433C>G c.210C>G c.2653C>G (p.Pro885Ala) c.550C>G (p.Pro184Ala) c.2992C>G (p.Pro998Ala) c.1312C>G (p.Pro438Ala) | |
X | g.108624295C>T | CA413853470 | COL4A5 | c.2977C>T (p.Pro993Ser) n.2433C>T c.210C>T c.2653C>T (p.Pro885Ser) c.550C>T (p.Pro184Ser) c.2992C>T (p.Pro998Ser) c.1312C>T (p.Pro438Ser) | |
X | g.108624296C>A | CA413853473 | COL4A5 | c.2978C>A (p.Pro993His) n.2434C>A c.211C>A c.2654C>A (p.Pro885His) c.551C>A (p.Pro184His) c.2993C>A (p.Pro998His) c.1313C>A (p.Pro438His) | |
X | g.108624296C>G | CA413853477 | COL4A5 | c.2978C>G (p.Pro993Arg) n.2434C>G c.211C>G c.2654C>G (p.Pro885Arg) c.551C>G (p.Pro184Arg) c.2993C>G (p.Pro998Arg) c.1313C>G (p.Pro438Arg) | |
X | g.108624296C>T | CA413853480 | COL4A5 | c.2978C>T (p.Pro993Leu) n.2434C>T c.211C>T c.2654C>T (p.Pro885Leu) c.551C>T (p.Pro184Leu) c.2993C>T (p.Pro998Leu) c.1313C>T (p.Pro438Leu) | |
X | g.108624297T>A | CA517925053 | COL4A5 | c.2979T>A (p.Pro993=) n.2435T>A c.212T>A c.2655T>A (p.Pro885=) c.552T>A (p.Pro184=) c.2994T>A (p.Pro998=) c.1314T>A (p.Pro438=) | |
X | g.108624297T>C | CA517925054 | COL4A5 | c.2979T>C (p.Pro993=) n.2435T>C c.212T>C c.2655T>C (p.Pro885=) c.552T>C (p.Pro184=) c.2994T>C (p.Pro998=) c.1314T>C (p.Pro438=) | |
X | g.108624297T>G | CA10489006 | COL4A5 | c.2979T>G (p.Pro993=) n.2435T>G c.212T>G c.2655T>G (p.Pro885=) c.552T>G (p.Pro184=) c.2994T>G (p.Pro998=) c.1314T>G (p.Pro438=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108624297T= | CA2450697345 | COL4A5 | c.2979T= (p.Pro993=) n.2435T= c.212T= c.2655T= (p.Pro885=) c.552T= (p.Pro184=) c.2994T= (p.Pro998=) c.1314T= (p.Pro438=) | |
X | g.108624298G>A | CA413853489 | COL4A5 | c.2980G>A (p.Gly994Arg) n.2436G>A c.213G>A c.2656G>A (p.Gly886Arg) c.553G>A (p.Gly185Arg) c.2995G>A (p.Gly999Arg) c.1315G>A (p.Gly439Arg) | ClinVar |
X | g.108624298G>C | CA413853485 | COL4A5 | c.2980G>C (p.Gly994Arg) n.2436G>C c.213G>C c.2656G>C (p.Gly886Arg) c.553G>C (p.Gly185Arg) c.2995G>C (p.Gly999Arg) c.1315G>C (p.Gly439Arg) | |
X | g.108624298G>T | CA413853492 | COL4A5 | c.2980G>T (p.Gly994Ter) n.2436G>T c.213G>T c.2656G>T (p.Gly886Ter) c.553G>T (p.Gly185Ter) c.2995G>T (p.Gly999Ter) c.1315G>T (p.Gly439Ter) | |
X | g.108624299G>A | CA413853495 | COL4A5 | c.2981G>A (p.Gly994Glu) n.2437G>A c.214G>A c.2657G>A (p.Gly886Glu) c.554G>A (p.Gly185Glu) c.2996G>A (p.Gly999Glu) c.1316G>A (p.Gly439Glu) | |
X | g.108624299G>C | CA413853497 | COL4A5 | c.2981G>C (p.Gly994Ala) n.2437G>C c.214G>C c.2657G>C (p.Gly886Ala) c.554G>C (p.Gly185Ala) c.2996G>C (p.Gly999Ala) c.1316G>C (p.Gly439Ala) | ClinVar gnomAD v4 |
X | g.108624299G>T | CA413853500 | COL4A5 | c.2981G>T (p.Gly994Val) n.2437G>T c.214G>T c.2657G>T (p.Gly886Val) c.554G>T (p.Gly185Val) c.2996G>T (p.Gly999Val) c.1316G>T (p.Gly439Val) | |
X | g.108624300A= | CA2450697346 | COL4A5 | c.2982A= (p.Gly994=) n.2438A= c.215A= c.2658A= (p.Gly886=) c.555A= (p.Gly185=) c.2997A= (p.Gly999=) c.1317A= (p.Gly439=) | |
X | g.108624300A>C | CA517925069 | COL4A5 | c.2982A>C (p.Gly994=) n.2438A>C c.215A>C c.2658A>C (p.Gly886=) c.555A>C (p.Gly185=) c.2997A>C (p.Gly999=) c.1317A>C (p.Gly439=) | |
X | g.108624300A>G | CA517925071 | COL4A5 | c.2982A>G (p.Gly994=) n.2438A>G c.215A>G c.2658A>G (p.Gly886=) c.555A>G (p.Gly185=) c.2997A>G (p.Gly999=) c.1317A>G (p.Gly439=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108624300A>T | CA517925066 | COL4A5 | c.2982A>T (p.Gly994=) n.2438A>T c.215A>T c.2658A>T (p.Gly886=) c.555A>T (p.Gly185=) c.2997A>T (p.Gly999=) c.1317A>T (p.Gly439=) | |
X | g.108624301C>A | CA10489007 | COL4A5 | c.2983C>A (p.Leu995Met) n.2439C>A c.216C>A c.2659C>A (p.Leu887Met) c.556C>A (p.Leu186Met) c.2998C>A (p.Leu1000Met) c.1318C>A (p.Leu440Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108624301C= | CA2450697347 | COL4A5 | c.2983C= (p.Leu995=) n.2439C= c.216C= c.2659C= (p.Leu887=) c.556C= (p.Leu186=) c.2998C= (p.Leu1000=) c.1318C= (p.Leu440=) | |
X | g.108624301C>G | CA413853504 | COL4A5 | c.2983C>G (p.Leu995Val) n.2439C>G c.216C>G c.2659C>G (p.Leu887Val) c.556C>G (p.Leu186Val) c.2998C>G (p.Leu1000Val) c.1318C>G (p.Leu440Val) | |
X | g.108624301C>T | CA517925073 | COL4A5 | c.2983C>T (p.Leu995=) n.2439C>T c.216C>T c.2659C>T (p.Leu887=) c.556C>T (p.Leu186=) c.2998C>T (p.Leu1000=) c.1318C>T (p.Leu440=) | |
X | g.108624302T>A | CA413853515 | COL4A5 | c.2984T>A (p.Leu995Gln) n.2440T>A c.217T>A c.2660T>A (p.Leu887Gln) c.557T>A (p.Leu186Gln) c.2999T>A (p.Leu1000Gln) c.1319T>A (p.Leu440Gln) | |
X | g.108624302T>C | CA413853518 | COL4A5 | c.2984T>C (p.Leu995Pro) n.2440T>C c.217T>C c.2660T>C (p.Leu887Pro) c.557T>C (p.Leu186Pro) c.2999T>C (p.Leu1000Pro) c.1319T>C (p.Leu440Pro) | ClinVar |
X | g.108624302T>G | CA413853521 | COL4A5 | c.2984T>G (p.Leu995Arg) n.2440T>G c.217T>G c.2660T>G (p.Leu887Arg) c.557T>G (p.Leu186Arg) c.2999T>G (p.Leu1000Arg) c.1319T>G (p.Leu440Arg) | |
X | g.108624303G>A | CA517925079 | COL4A5 | c.2985G>A (p.Leu995=) n.2441G>A c.218G>A c.2661G>A (p.Leu887=) c.558G>A (p.Leu186=) c.3000G>A (p.Leu1000=) c.1320G>A (p.Leu440=) | |
X | g.108624303G>C | CA517925081 | COL4A5 | c.2985G>C (p.Leu995=) n.2441G>C c.218G>C c.2661G>C (p.Leu887=) c.558G>C (p.Leu186=) c.3000G>C (p.Leu1000=) c.1320G>C (p.Leu440=) | |
X | g.108624303G>T | CA517925084 | COL4A5 | c.2985G>T (p.Leu995=) n.2441G>T c.218G>T c.2661G>T (p.Leu887=) c.558G>T (p.Leu186=) c.3000G>T (p.Leu1000=) c.1320G>T (p.Leu440=) | |
X | g.108624304A>C | CA413853524 | COL4A5 | c.2986A>C (p.Ser996Arg) n.2442A>C c.219A>C c.2662A>C (p.Ser888Arg) c.559A>C (p.Ser187Arg) c.3001A>C (p.Ser1001Arg) c.1321A>C (p.Ser441Arg) | |
X | g.108624304A>G | CA413853531 | COL4A5 | c.2986A>G (p.Ser996Gly) n.2442A>G c.219A>G c.2662A>G (p.Ser888Gly) c.559A>G (p.Ser187Gly) c.3001A>G (p.Ser1001Gly) c.1321A>G (p.Ser441Gly) | |
X | g.108624304A>T | CA413853534 | COL4A5 | c.2986A>T (p.Ser996Cys) n.2442A>T c.219A>T c.2662A>T (p.Ser888Cys) c.559A>T (p.Ser187Cys) c.3001A>T (p.Ser1001Cys) c.1321A>T (p.Ser441Cys) | |
X | g.108624305G>A | CA10489008 | COL4A5 | c.2987G>A (p.Ser996Asn) n.2443G>A c.220G>A c.2663G>A (p.Ser888Asn) c.560G>A (p.Ser187Asn) c.3002G>A (p.Ser1001Asn) c.1322G>A (p.Ser441Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108624305G>C | CA413853539 | COL4A5 | c.2987G>C (p.Ser996Thr) n.2443G>C c.220G>C c.2663G>C (p.Ser888Thr) c.560G>C (p.Ser187Thr) c.3002G>C (p.Ser1001Thr) c.1322G>C (p.Ser441Thr) | |
X | g.108624305G= | CA2450697348 | COL4A5 | c.2987G= (p.Ser996=) n.2443G= c.220G= c.2663G= (p.Ser888=) c.560G= (p.Ser187=) c.3002G= (p.Ser1001=) c.1322G= (p.Ser441=) | |
X | g.108624305G>T | CA413853541 | COL4A5 | c.2987G>T (p.Ser996Ile) n.2443G>T c.220G>T c.2663G>T (p.Ser888Ile) c.560G>T (p.Ser187Ile) c.3002G>T (p.Ser1001Ile) c.1322G>T (p.Ser441Ile) | COSMIC COSMIC |
X | g.108624306T>A | CA413853547 | COL4A5 | c.2988T>A (p.Ser996Arg) n.2444T>A c.221T>A c.2664T>A (p.Ser888Arg) c.561T>A (p.Ser187Arg) c.3003T>A (p.Ser1001Arg) c.1323T>A (p.Ser441Arg) | |
X | g.108624306T>C | CA517925091 | COL4A5 | c.2988T>C (p.Ser996=) n.2444T>C c.221T>C c.2664T>C (p.Ser888=) c.561T>C (p.Ser187=) c.3003T>C (p.Ser1001=) c.1323T>C (p.Ser441=) | dbSNP |
X | g.108624306T>G | CA413853544 | COL4A5 | c.2988T>G (p.Ser996Arg) n.2444T>G c.221T>G c.2664T>G (p.Ser888Arg) c.561T>G (p.Ser187Arg) c.3003T>G (p.Ser1001Arg) c.1323T>G (p.Ser441Arg) | gnomAD v4 |
X | g.108624306T= | CA2450697349 | COL4A5 | c.2988T= (p.Ser996=) n.2444T= c.221T= c.2664T= (p.Ser888=) c.561T= (p.Ser187=) c.3003T= (p.Ser1001=) c.1323T= (p.Ser441=) | |
X | g.108624307G>A | CA413853551 | COL4A5 | c.2989G>A (p.Gly997Arg) n.2445G>A c.222G>A c.2665G>A (p.Gly889Arg) c.562G>A (p.Gly188Arg) c.3004G>A (p.Gly1002Arg) c.1324G>A (p.Gly442Arg) | |
X | g.108624307G>C | CA413853553 | COL4A5 | c.2989G>C (p.Gly997Arg) n.2445G>C c.222G>C c.2665G>C (p.Gly889Arg) c.562G>C (p.Gly188Arg) c.3004G>C (p.Gly1002Arg) c.1324G>C (p.Gly442Arg) | |
X | g.108624307G>T | CA413853558 | COL4A5 | c.2989G>T (p.Gly997Ter) n.2445G>T c.222G>T c.2665G>T (p.Gly889Ter) c.562G>T (p.Gly188Ter) c.3004G>T (p.Gly1002Ter) c.1324G>T (p.Gly442Ter) | |
X | g.108624308G>A | CA413853561 | COL4A5 | c.2990G>A (p.Gly997Glu) n.2446G>A c.223G>A c.2666G>A (p.Gly889Glu) c.563G>A (p.Gly188Glu) c.3005G>A (p.Gly1002Glu) c.1325G>A (p.Gly442Glu) | |
X | g.108624308G>C | CA413853564 | COL4A5 | c.2990G>C (p.Gly997Ala) n.2446G>C c.223G>C c.2666G>C (p.Gly889Ala) c.563G>C (p.Gly188Ala) c.3005G>C (p.Gly1002Ala) c.1325G>C (p.Gly442Ala) | |
X | g.108624308G>T | CA413853567 | COL4A5 | c.2990G>T (p.Gly997Val) n.2446G>T c.223G>T c.2666G>T (p.Gly889Val) c.563G>T (p.Gly188Val) c.3005G>T (p.Gly1002Val) c.1325G>T (p.Gly442Val) | |
X | g.108624308_108624309insGCAACCTGGACTGAGTGT | CA2695235750 | COL4A5 | c.2990_2991insGCAACCTGGACTGAGTGT (p.Gly997_Gln998insGlnProGlyLeuSerVal) n.2446_2447insGCAACCTGGACTGAGTGT c.223_224insGCAACCTGGACTGAGTGT c.2666_2667insGCAACCTGGACTGAGTGT (p.Gly889_Gln890insGlnProGlyLeuSerVal) c.563_564insGCAACCTGGACTGAGTGT (p.Gly188_Gln189insGlnProGlyLeuSerVal) c.3005_3006insGCAACCTGGACTGAGTGT (p.Gly1002_Gln1003insGlnProGlyLeuSerVal) c.1325_1326insGCAACCTGGACTGAGTGT (p.Gly442_Gln443insGlnProGlyLeuSerVal) | |
X | g.108624309A>C | CA517925101 | COL4A5 | c.2991A>C (p.Gly997=) n.2447A>C c.224A>C c.2667A>C (p.Gly889=) c.564A>C (p.Gly188=) c.3006A>C (p.Gly1002=) c.1326A>C (p.Gly442=) | |
X | g.108624309A>G | CA517925102 | COL4A5 | c.2991A>G (p.Gly997=) n.2447A>G c.224A>G c.2667A>G (p.Gly889=) c.564A>G (p.Gly188=) c.3006A>G (p.Gly1002=) c.1326A>G (p.Gly442=) | |
X | g.108624309A>T | CA517925103 | COL4A5 | c.2991A>T (p.Gly997=) n.2447A>T c.224A>T c.2667A>T (p.Gly889=) c.564A>T (p.Gly188=) c.3006A>T (p.Gly1002=) c.1326A>T (p.Gly442=) | |
X | g.108624310C>A | CA10489009 | COL4A5 | c.2992C>A (p.Gln998Lys) n.2448C>A c.225C>A c.2668C>A (p.Gln890Lys) c.565C>A (p.Gln189Lys) c.3007C>A (p.Gln1003Lys) c.1327C>A (p.Gln443Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108624310C= | CA2450697350 | COL4A5 | c.2992C= (p.Gln998=) n.2448C= c.225C= c.2668C= (p.Gln890=) c.565C= (p.Gln189=) c.3007C= (p.Gln1003=) c.1327C= (p.Gln443=) | |
X | g.108624310C>G | CA413853569 | COL4A5 | c.2992C>G (p.Gln998Glu) n.2448C>G c.225C>G c.2668C>G (p.Gln890Glu) c.565C>G (p.Gln189Glu) c.3007C>G (p.Gln1003Glu) c.1327C>G (p.Gln443Glu) | |
X | g.108624310C>T | CA413853572 | COL4A5 | c.2992C>T (p.Gln998Ter) n.2448C>T c.225C>T c.2668C>T (p.Gln890Ter) c.565C>T (p.Gln189Ter) c.3007C>T (p.Gln1003Ter) c.1327C>T (p.Gln443Ter) | ClinVar dbSNP |
X | g.108624311A>C | CA413853577 | COL4A5 | c.2993A>C (p.Gln998Pro) n.2449A>C c.226A>C c.2669A>C (p.Gln890Pro) c.566A>C (p.Gln189Pro) c.3008A>C (p.Gln1003Pro) c.1328A>C (p.Gln443Pro) | |
X | g.108624311A>G | CA413853580 | COL4A5 | c.2993A>G (p.Gln998Arg) n.2449A>G c.226A>G c.2669A>G (p.Gln890Arg) c.566A>G (p.Gln189Arg) c.3008A>G (p.Gln1003Arg) c.1328A>G (p.Gln443Arg) | |
X | g.108624311A>T | CA413853583 | COL4A5 | c.2993A>T (p.Gln998Leu) n.2449A>T c.226A>T c.2669A>T (p.Gln890Leu) c.566A>T (p.Gln189Leu) c.3008A>T (p.Gln1003Leu) c.1328A>T (p.Gln443Leu) | |
X | g.108624312A>C | CA413853586 | COL4A5 | c.2994A>C (p.Gln998His) n.2450A>C c.227A>C c.2670A>C (p.Gln890His) c.567A>C (p.Gln189His) c.3009A>C (p.Gln1003His) c.1329A>C (p.Gln443His) | |
X | g.108624312A>G | CA517925107 | COL4A5 | c.2994A>G (p.Gln998=) n.2450A>G c.227A>G c.2670A>G (p.Gln890=) c.567A>G (p.Gln189=) c.3009A>G (p.Gln1003=) c.1329A>G (p.Gln443=) | |
X | g.108624312A>T | CA413853589 | COL4A5 | c.2994A>T (p.Gln998His) n.2450A>T c.227A>T c.2670A>T (p.Gln890His) c.567A>T (p.Gln189His) c.3009A>T (p.Gln1003His) c.1329A>T (p.Gln443His) | gnomAD v4 |
X | g.108624313C>A | CA413853597 | COL4A5 | c.2995C>A (p.Pro999Thr) n.2451C>A c.228C>A c.2671C>A (p.Pro891Thr) c.568C>A (p.Pro190Thr) c.3010C>A (p.Pro1004Thr) c.1330C>A (p.Pro444Thr) | gnomAD v4 |
X | g.108624313C>G | CA413853592 | COL4A5 | c.2995C>G (p.Pro999Ala) n.2451C>G c.228C>G c.2671C>G (p.Pro891Ala) c.568C>G (p.Pro190Ala) c.3010C>G (p.Pro1004Ala) c.1330C>G (p.Pro444Ala) | |
X | g.108624313C>T | CA413853595 | COL4A5 | c.2995C>T (p.Pro999Ser) n.2451C>T c.228C>T c.2671C>T (p.Pro891Ser) c.568C>T (p.Pro190Ser) c.3010C>T (p.Pro1004Ser) c.1330C>T (p.Pro444Ser) | |
X | g.108624313_108624315del | CA2579676604 | COL4A5 | c.2995_2997del (p.Pro999del) n.2451_2453del c.228_230del c.2671_2673del (p.Pro891del) c.568_570del (p.Pro190del) c.3010_3012del (p.Pro1004del) c.1330_1332del (p.Pro444del) | |
X | g.108624314C>A | CA10489010 | COL4A5 | c.2996C>A (p.Pro999His) n.2452C>A c.229C>A c.2672C>A (p.Pro891His) c.569C>A (p.Pro190His) c.3011C>A (p.Pro1004His) c.1331C>A (p.Pro444His) | dbSNP ExAC gnomAD v2 |
X | g.108624314C= | CA2450697351 | COL4A5 | c.2996C= (p.Pro999=) n.2452C= c.229C= c.2672C= (p.Pro891=) c.569C= (p.Pro190=) c.3011C= (p.Pro1004=) c.1331C= (p.Pro444=) | |
X | g.108624314C>G | CA413853605 | COL4A5 | c.2996C>G (p.Pro999Arg) n.2452C>G c.229C>G c.2672C>G (p.Pro891Arg) c.569C>G (p.Pro190Arg) c.3011C>G (p.Pro1004Arg) c.1331C>G (p.Pro444Arg) | |
X | g.108624314C>T | CA413853602 | COL4A5 | c.2996C>T (p.Pro999Leu) n.2452C>T c.229C>T c.2672C>T (p.Pro891Leu) c.569C>T (p.Pro190Leu) c.3011C>T (p.Pro1004Leu) c.1331C>T (p.Pro444Leu) | dbSNP gnomAD v4 |
X | g.108624315T>A | CA517925109 | COL4A5 | c.2997T>A (p.Pro999=) n.2453T>A c.230T>A c.2673T>A (p.Pro891=) c.570T>A (p.Pro190=) c.3012T>A (p.Pro1004=) c.1332T>A (p.Pro444=) | dbSNP |
X | g.108624315T>C | CA517925110 | COL4A5 | c.2997T>C (p.Pro999=) n.2453T>C c.230T>C c.2673T>C (p.Pro891=) c.570T>C (p.Pro190=) c.3012T>C (p.Pro1004=) c.1332T>C (p.Pro444=) | |
X | g.108624315T>G | CA517925112 | COL4A5 | c.2997T>G (p.Pro999=) n.2453T>G c.230T>G c.2673T>G (p.Pro891=) c.570T>G (p.Pro190=) c.3012T>G (p.Pro1004=) c.1332T>G (p.Pro444=) | |
X | g.108624315T= | CA2450697352 | COL4A5 | c.2997T= (p.Pro999=) n.2453T= c.230T= c.2673T= (p.Pro891=) c.570T= (p.Pro190=) c.3012T= (p.Pro1004=) c.1332T= (p.Pro444=) | |
X | g.108624316G>A | CA413853607 | COL4A5 | c.2998G>A (p.Gly1000Arg) n.2454G>A c.231G>A c.2674G>A (p.Gly892Arg) c.571G>A (p.Gly191Arg) c.3013G>A (p.Gly1005Arg) c.1333G>A (p.Gly445Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108624316G>C | CA413853610 | COL4A5 | c.2998G>C (p.Gly1000Arg) n.2454G>C c.231G>C c.2674G>C (p.Gly892Arg) c.571G>C (p.Gly191Arg) c.3013G>C (p.Gly1005Arg) c.1333G>C (p.Gly445Arg) | |
X | g.108624316G= | CA2450697353 | COL4A5 | c.2998G= (p.Gly1000=) n.2454G= c.231G= c.2674G= (p.Gly892=) c.571G= (p.Gly191=) c.3013G= (p.Gly1005=) c.1333G= (p.Gly445=) | |
X | g.108624316G>T | CA413853613 | COL4A5 | c.2998G>T (p.Gly1000Ter) n.2454G>T c.231G>T c.2674G>T (p.Gly892Ter) c.571G>T (p.Gly191Ter) c.3013G>T (p.Gly1005Ter) c.1333G>T (p.Gly445Ter) | ClinVar |
X | g.108624317G>A | CA413853616 | COL4A5 | c.2999G>A (p.Gly1000Glu) n.2455G>A c.232G>A c.2675G>A (p.Gly892Glu) c.572G>A (p.Gly191Glu) c.3014G>A (p.Gly1005Glu) c.1334G>A (p.Gly445Glu) | COSMIC COSMIC |
X | g.108624317G>C | CA413853619 | COL4A5 | c.2999G>C (p.Gly1000Ala) n.2455G>C c.232G>C c.2675G>C (p.Gly892Ala) c.572G>C (p.Gly191Ala) c.3014G>C (p.Gly1005Ala) c.1334G>C (p.Gly445Ala) | |
X | g.108624317G= | CA2450697354 | COL4A5 | c.2999G= (p.Gly1000=) n.2455G= c.232G= c.2675G= (p.Gly892=) c.572G= (p.Gly191=) c.3014G= (p.Gly1005=) c.1334G= (p.Gly445=) | |
X | g.108624317G>T | CA258787 | COL4A5 | c.2999G>T (p.Gly1000Val) n.2455G>T c.232G>T c.2675G>T (p.Gly892Val) c.572G>T (p.Gly191Val) c.3014G>T (p.Gly1005Val) c.1334G>T (p.Gly445Val) | ClinVar dbSNP |
X | g.108624318A>C | CA517925116 | COL4A5 | c.3000A>C (p.Gly1000=) n.2456A>C c.233A>C c.2676A>C (p.Gly892=) c.573A>C (p.Gly191=) c.3015A>C (p.Gly1005=) c.1335A>C (p.Gly445=) | |
X | g.108624318A>G | CA517925118 | COL4A5 | c.3000A>G (p.Gly1000=) n.2456A>G c.233A>G c.2676A>G (p.Gly892=) c.573A>G (p.Gly191=) c.3015A>G (p.Gly1005=) c.1335A>G (p.Gly445=) | ClinVar dbSNP |
X | g.108624318A>T | CA517925120 | COL4A5 | c.3000A>T (p.Gly1000=) n.2456A>T c.233A>T c.2676A>T (p.Gly892=) c.573A>T (p.Gly191=) c.3015A>T (p.Gly1005=) c.1335A>T (p.Gly445=) | |
X | g.108624319T>A | CA413853624 | COL4A5 | c.3001T>A (p.Leu1001Ile) n.2457T>A c.234T>A c.2677T>A (p.Leu893Ile) c.574T>A (p.Leu192Ile) c.3016T>A (p.Leu1006Ile) c.1336T>A (p.Leu446Ile) | |
X | g.108624319T>C | CA10489011 | COL4A5 | c.3001T>C (p.Leu1001=) n.2457T>C c.234T>C c.2677T>C (p.Leu893=) c.574T>C (p.Leu192=) c.3016T>C (p.Leu1006=) c.1336T>C (p.Leu446=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108624319T>G | CA413853628 | COL4A5 | c.3001T>G (p.Leu1001Val) n.2457T>G c.234T>G c.2677T>G (p.Leu893Val) c.574T>G (p.Leu192Val) c.3016T>G (p.Leu1006Val) c.1336T>G (p.Leu446Val) | |
X | g.108624319T= | CA2450697355 | COL4A5 | c.3001T= (p.Leu1001=) n.2457T= c.234T= c.2677T= (p.Leu893=) c.574T= (p.Leu192=) c.3016T= (p.Leu1006=) c.1336T= (p.Leu446=) | |
X | g.108624320del | CA2579676605 | COL4A5 | c.3002del (p.Leu1001TyrfsTer20) n.2458del c.235del c.2678del (p.Leu893TyrfsTer20) c.575del (p.Leu192TyrfsTer20) c.3017del (p.Leu1006TyrfsTer20) c.1337del (p.Leu446TyrfsTer20) | |
X | g.108624320T>A | CA413853632 | COL4A5 | c.3002T>A (p.Leu1001Ter) n.2458T>A c.235T>A c.2678T>A (p.Leu893Ter) c.575T>A (p.Leu192Ter) c.3017T>A (p.Leu1006Ter) c.1337T>A (p.Leu446Ter) | ClinVar |
X | g.108624320T>C | CA413853633 | COL4A5 | c.3002T>C (p.Leu1001Ser) n.2458T>C c.235T>C c.2678T>C (p.Leu893Ser) c.575T>C (p.Leu192Ser) c.3017T>C (p.Leu1006Ser) c.1337T>C (p.Leu446Ser) | |
X | g.108624320T>G | CA413853636 | COL4A5 | c.3002T>G (p.Leu1001Ter) n.2458T>G c.235T>G c.2678T>G (p.Leu893Ter) c.575T>G (p.Leu192Ter) c.3017T>G (p.Leu1006Ter) c.1337T>G (p.Leu446Ter) | |
X | g.108624321del | CA2551621672 | COL4A5 | c.3003del (p.Leu1001PhefsTer20) n.2459del c.236del c.2679del (p.Leu893PhefsTer20) c.576del (p.Leu192PhefsTer20) c.3018del (p.Leu1006PhefsTer20) c.1338del (p.Leu446PhefsTer20) | |
X | g.108624321A>C | CA413853639 | COL4A5 | c.3003A>C (p.Leu1001Phe) n.2459A>C c.236A>C c.2679A>C (p.Leu893Phe) c.576A>C (p.Leu192Phe) c.3018A>C (p.Leu1006Phe) c.1338A>C (p.Leu446Phe) | |
X | g.108624321A>G | CA517925123 | COL4A5 | c.3003A>G (p.Leu1001=) n.2459A>G c.236A>G c.2679A>G (p.Leu893=) c.576A>G (p.Leu192=) c.3018A>G (p.Leu1006=) c.1338A>G (p.Leu446=) | ClinVar dbSNP |
X | g.108624321A>T | CA413853642 | COL4A5 | c.3003A>T (p.Leu1001Phe) n.2459A>T c.236A>T c.2679A>T (p.Leu893Phe) c.576A>T (p.Leu192Phe) c.3018A>T (p.Leu1006Phe) c.1338A>T (p.Leu446Phe) | |
X | g.108624322C>A | CA413853647 | COL4A5 | c.3004C>A (p.Pro1002Thr) n.2460C>A c.237C>A c.2680C>A (p.Pro894Thr) c.577C>A (p.Pro193Thr) c.3019C>A (p.Pro1007Thr) c.1339C>A (p.Pro447Thr) | |
X | g.108624322C>G | CA413853651 | COL4A5 | c.3004C>G (p.Pro1002Ala) n.2460C>G c.237C>G c.2680C>G (p.Pro894Ala) c.577C>G (p.Pro193Ala) c.3019C>G (p.Pro1007Ala) c.1339C>G (p.Pro447Ala) | |
X | g.108624322C>T | CA413853653 | COL4A5 | c.3004C>T (p.Pro1002Ser) n.2460C>T c.237C>T c.2680C>T (p.Pro894Ser) c.577C>T (p.Pro193Ser) c.3019C>T (p.Pro1007Ser) c.1339C>T (p.Pro447Ser) | |
X | g.108624323C>A | CA413853657 | COL4A5 | c.3005C>A (p.Pro1002Gln) n.2461C>A c.238C>A c.2681C>A (p.Pro894Gln) c.578C>A (p.Pro193Gln) c.3020C>A (p.Pro1007Gln) c.1340C>A (p.Pro447Gln) | |
X | g.108624323C>G | CA413853661 | COL4A5 | c.3005C>G (p.Pro1002Arg) n.2461C>G c.238C>G c.2681C>G (p.Pro894Arg) c.578C>G (p.Pro193Arg) c.3020C>G (p.Pro1007Arg) c.1340C>G (p.Pro447Arg) | |
X | g.108624323C>T | CA413853663 | COL4A5 | c.3005C>T (p.Pro1002Leu) n.2461C>T c.238C>T c.2681C>T (p.Pro894Leu) c.578C>T (p.Pro193Leu) c.3020C>T (p.Pro1007Leu) c.1340C>T (p.Pro447Leu) | gnomAD v4 |
X | g.108624324A>C | CA517925132 | COL4A5 | c.3006A>C (p.Pro1002=) n.2462A>C c.239A>C c.2682A>C (p.Pro894=) c.579A>C (p.Pro193=) c.3021A>C (p.Pro1007=) c.1341A>C (p.Pro447=) | |
X | g.108624324A>G | CA517925134 | COL4A5 | c.3006A>G (p.Pro1002=) n.2462A>G c.239A>G c.2682A>G (p.Pro894=) c.579A>G (p.Pro193=) c.3021A>G (p.Pro1007=) c.1341A>G (p.Pro447=) | gnomAD v4 |
X | g.108624324A>T | CA517925137 | COL4A5 | c.3006A>T (p.Pro1002=) n.2462A>T c.239A>T c.2682A>T (p.Pro894=) c.579A>T (p.Pro193=) c.3021A>T (p.Pro1007=) c.1341A>T (p.Pro447=) | gnomAD v4 |
X | g.108624325G>A | CA413853669 | COL4A5 | c.3007G>A (p.Gly1003Arg) n.2463G>A c.240G>A c.2683G>A (p.Gly895Arg) c.580G>A (p.Gly194Arg) c.3022G>A (p.Gly1008Arg) c.1342G>A (p.Gly448Arg) | |
X | g.108624325G>C | CA413853671 | COL4A5 | c.3007G>C (p.Gly1003Arg) n.2463G>C c.240G>C c.2683G>C (p.Gly895Arg) c.580G>C (p.Gly194Arg) c.3022G>C (p.Gly1008Arg) c.1342G>C (p.Gly448Arg) | |
X | g.108624325G>T | CA413853673 | COL4A5 | c.3007G>T (p.Gly1003Ter) n.2463G>T c.240G>T c.2683G>T (p.Gly895Ter) c.580G>T (p.Gly194Ter) c.3022G>T (p.Gly1008Ter) c.1342G>T (p.Gly448Ter) | |
X | g.108624326G>A | CA413853675 | COL4A5 | c.3008G>A (p.Gly1003Glu) n.2464G>A c.241G>A c.2684G>A (p.Gly895Glu) c.581G>A (p.Gly194Glu) c.3023G>A (p.Gly1008Glu) c.1343G>A (p.Gly448Glu) | |
X | g.108624326G>C | CA413853677 | COL4A5 | c.3008G>C (p.Gly1003Ala) n.2464G>C c.241G>C c.2684G>C (p.Gly895Ala) c.581G>C (p.Gly194Ala) c.3023G>C (p.Gly1008Ala) c.1343G>C (p.Gly448Ala) | |
X | g.108624326G>T | CA413853678 | COL4A5 | c.3008G>T (p.Gly1003Val) n.2464G>T c.241G>T c.2684G>T (p.Gly895Val) c.581G>T (p.Gly194Val) c.3023G>T (p.Gly1008Val) c.1343G>T (p.Gly448Val) | ClinVar |
X | g.108624327A>C | CA517925142 | COL4A5 | c.3009A>C (p.Gly1003=) n.2465A>C c.242A>C c.2685A>C (p.Gly895=) c.582A>C (p.Gly194=) c.3024A>C (p.Gly1008=) c.1344A>C (p.Gly448=) | |
X | g.108624327A>G | CA517925143 | COL4A5 | c.3009A>G (p.Gly1003=) n.2465A>G c.242A>G c.2685A>G (p.Gly895=) c.582A>G (p.Gly194=) c.3024A>G (p.Gly1008=) c.1344A>G (p.Gly448=) | |
X | g.108624327A>T | CA517925144 | COL4A5 | c.3009A>T (p.Gly1003=) n.2465A>T c.242A>T c.2685A>T (p.Gly895=) c.582A>T (p.Gly194=) c.3024A>T (p.Gly1008=) c.1344A>T (p.Gly448=) | |
X | g.108624328C>A | CA413853682 | COL4A5 | c.3010C>A (p.Pro1004Thr) n.2466C>A c.243C>A c.2686C>A (p.Pro896Thr) c.583C>A (p.Pro195Thr) c.3025C>A (p.Pro1009Thr) c.1345C>A (p.Pro449Thr) | gnomAD v4 |
X | g.108624328C>G | CA413853687 | COL4A5 | c.3010C>G (p.Pro1004Ala) n.2466C>G c.243C>G c.2686C>G (p.Pro896Ala) c.583C>G (p.Pro195Ala) c.3025C>G (p.Pro1009Ala) c.1345C>G (p.Pro449Ala) | |
X | g.108624328C>T | CA413853684 | COL4A5 | c.3010C>T (p.Pro1004Ser) n.2466C>T c.243C>T c.2686C>T (p.Pro896Ser) c.583C>T (p.Pro195Ser) c.3025C>T (p.Pro1009Ser) c.1345C>T (p.Pro449Ser) | gnomAD v4 |
X | g.108624329del | CA2579676606 | COL4A5 | c.3011del (p.Pro1004HisfsTer17) n.2467del c.244del c.2687del (p.Pro896HisfsTer17) c.584del (p.Pro195HisfsTer17) c.3026del (p.Pro1009HisfsTer17) c.1346del (p.Pro449HisfsTer17) | gnomAD v4 |
X | g.108624329C>A | CA413853690 | COL4A5 | c.3011C>A (p.Pro1004Gln) n.2467C>A c.244C>A c.2687C>A (p.Pro896Gln) c.584C>A (p.Pro195Gln) c.3026C>A (p.Pro1009Gln) c.1346C>A (p.Pro449Gln) | gnomAD v4 |
X | g.108624329C>G | CA413853695 | COL4A5 | c.3011C>G (p.Pro1004Arg) n.2467C>G c.244C>G c.2687C>G (p.Pro896Arg) c.584C>G (p.Pro195Arg) c.3026C>G (p.Pro1009Arg) c.1346C>G (p.Pro449Arg) | |
X | g.108624329C>T | CA413853693 | COL4A5 | c.3011C>T (p.Pro1004Leu) n.2467C>T c.244C>T c.2687C>T (p.Pro896Leu) c.584C>T (p.Pro195Leu) c.3026C>T (p.Pro1009Leu) c.1346C>T (p.Pro449Leu) | |
X | g.108624330A= | CA2450697356 | COL4A5 | c.3012A= (p.Pro1004=) n.2468A= c.245A= c.2688A= (p.Pro896=) c.585A= (p.Pro195=) c.3027A= (p.Pro1009=) c.1347A= (p.Pro449=) | |
X | g.108624330A>C | CA517925146 | COL4A5 | c.3012A>C (p.Pro1004=) n.2468A>C c.245A>C c.2688A>C (p.Pro896=) c.585A>C (p.Pro195=) c.3027A>C (p.Pro1009=) c.1347A>C (p.Pro449=) | gnomAD v4 |
X | g.108624330A>G | CA10489012 | COL4A5 | c.3012A>G (p.Pro1004=) n.2468A>G c.245A>G c.2688A>G (p.Pro896=) c.585A>G (p.Pro195=) c.3027A>G (p.Pro1009=) c.1347A>G (p.Pro449=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108624330A>T | CA517925147 | COL4A5 | c.3012A>T (p.Pro1004=) n.2468A>T c.245A>T c.2688A>T (p.Pro896=) c.585A>T (p.Pro195=) c.3027A>T (p.Pro1009=) c.1347A>T (p.Pro449=) | |
X | g.108624331C>A | CA413853699 | COL4A5 | c.3013C>A (p.Pro1005Thr) n.2469C>A c.246C>A c.2689C>A (p.Pro897Thr) c.586C>A (p.Pro196Thr) c.3028C>A (p.Pro1010Thr) c.1348C>A (p.Pro450Thr) | |
X | g.108624331C>G | CA413853701 | COL4A5 | c.3013C>G (p.Pro1005Ala) n.2469C>G c.246C>G c.2689C>G (p.Pro897Ala) c.586C>G (p.Pro196Ala) c.3028C>G (p.Pro1010Ala) c.1348C>G (p.Pro450Ala) | |
X | g.108624331C>T | CA413853702 | COL4A5 | c.3013C>T (p.Pro1005Ser) n.2469C>T c.246C>T c.2689C>T (p.Pro897Ser) c.586C>T (p.Pro196Ser) c.3028C>T (p.Pro1010Ser) c.1348C>T (p.Pro450Ser) | |
X | g.108624332del | CA2579676607 | COL4A5 | c.3014del (p.Pro1005GlnfsTer16) n.2470del c.247del c.2690del (p.Pro897GlnfsTer16) c.587del (p.Pro196GlnfsTer16) c.3029del (p.Pro1010GlnfsTer16) c.1349del (p.Pro450GlnfsTer16) |