| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) |