Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108624250T>ACA413853208COL4A5c.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)
Xg.108624250T>CCA413853209COL4A5c.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)
Xg.108624250T>GCA413853210COL4A5c.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
Xg.108624251C>ACA413853211COL4A5c.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
Xg.108624251C>GCA413853212COL4A5c.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)
Xg.108624251C>TCA413853213COL4A5c.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
Xg.108624252A>CCA517924959COL4A5c.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=)
Xg.108624252A>GCA517924961COL4A5c.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
Xg.108624252A>TCA517924960COL4A5c.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=)
Xg.108624253G>ACA413853216COL4A5c.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)
Xg.108624253G>CCA413853214COL4A5c.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)
Xg.108624253G>TCA413853215COL4A5c.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
Xg.108624254G>ACA413853217COL4A5c.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
Xg.108624254G>CCA413853218COL4A5c.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)
Xg.108624254G>TCA413853219COL4A5c.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)
Xg.108624255G>ACA517924964COL4A5c.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
Xg.108624255G>CCA517924966COL4A5c.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=)
Xg.108624255G>TCA517924967COL4A5c.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=)
Xg.108624256C>ACA413853220COL4A5c.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
Xg.108624256C>GCA413853221COL4A5c.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)
Xg.108624256C>TCA413853222COL4A5c.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)
Xg.108624257C>ACA413853224COL4A5c.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)
Xg.108624257C>GCA413853226COL4A5c.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)
Xg.108624257C>TCA413853228COL4A5c.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)
Xg.108624257_108624258delinsCACA2450697332COL4A5c.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=)
Xg.108624258A>CCA517924969COL4A5c.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=)
Xg.108624258A>GCA517924970COL4A5c.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=)
Xg.108624258A>TCA517924971COL4A5c.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=)
Xg.108624261delCA258782COL4A5c.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
Xg.108624259A>CCA413853232COL4A5c.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)
Xg.108624259A>GCA413853231COL4A5c.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)
Xg.108624259A>TCA413853234COL4A5c.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)
Xg.108624260A>CCA413853236COL4A5c.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)
Xg.108624260A>GCA413853237COL4A5c.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)
Xg.108624260A>TCA413853239COL4A5c.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)
Xg.108624261A>CCA413853241COL4A5c.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)
Xg.108624261A>GCA517924974COL4A5c.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=)
Xg.108624261A>TCA413853246COL4A5c.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)
Xg.108624262G>ACA413853248COL4A5c.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)
Xg.108624262G>CCA413853249COL4A5c.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)
Xg.108624262G>TCA413853250COL4A5c.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)
Xg.108624263G>ACA413853254COL4A5c.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)
Xg.108624263G>CCA413853257COL4A5c.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
Xg.108624263G>TCA413853258COL4A5c.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
Xg.108624263_108624264delinsGTCA2450697333COL4A5c.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=)
Xg.108624264T>ACA517924977COL4A5c.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=)
Xg.108624264T>CCA517924978COL4A5c.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
Xg.108624264T>GCA517924976COL4A5c.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=)
Xg.108624265dupCA2695235748COL4A5c.2947dup (p.Tyr983LeufsTer28)
n.2403dup
c.180dup
c.2623dup (p.Tyr875LeufsTer28)
c.520dup (p.Tyr174LeufsTer28)
c.2962dup (p.Tyr988LeufsTer28)
c.1282dup (p.Tyr428LeufsTer28)
Xg.108624265delCA261089COL4A5c.2947del (p.Tyr983IlefsTer13)
n.2403del
c.180del
c.2623del (p.Tyr875IlefsTer13)
c.520del (p.Tyr174IlefsTer13)
c.2962del (p.Tyr988IlefsTer13)
c.1282del (p.Tyr428IlefsTer13)
 dbSNP
Xg.108624265T>ACA413853267COL4A5c.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)
Xg.108624265T>CCA413853265COL4A5c.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)
Xg.108624265T>GCA413853266COL4A5c.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)
Xg.108624266A=CA2450697334COL4A5c.2948A= (p.Tyr983=)
n.2404A=
c.181A=
c.2624A= (p.Tyr875=)
c.521A= (p.Tyr174=)
c.2963A= (p.Tyr988=)
c.1283A= (p.Tyr428=)
Xg.108624266A>CCA413853268COL4A5c.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)
Xg.108624266A>GCA413853269COL4A5c.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
Xg.108624266A>TCA413853271COL4A5c.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)
Xg.108624267T>ACA413853272COL4A5c.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
Xg.108624267T>CCA517924982COL4A5c.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=)
Xg.108624267T>GCA413853274COL4A5c.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)
Xg.108624267T=CA2450697335COL4A5c.2949T= (p.Tyr983=)
n.2405T=
c.182T=
c.2625T= (p.Tyr875=)
c.522T= (p.Tyr174=)
c.2964T= (p.Tyr988=)
c.1284T= (p.Tyr428=)
Xg.108624268C>ACA413853276COL4A5c.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)
Xg.108624268C>GCA413853277COL4A5c.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)
Xg.108624268C>TCA413853284COL4A5c.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
Xg.108624269A=CA2450697336COL4A5c.2951A= (p.Gln984=)
n.2407A=
c.184A=
c.2627A= (p.Gln876=)
c.524A= (p.Gln175=)
c.2966A= (p.Gln989=)
c.1286A= (p.Gln429=)
Xg.108624269A>CCA413853286COL4A5c.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)
Xg.108624269A>GCA413853287COL4A5c.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
Xg.108624269A>TCA10489005COL4A5c.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
Xg.108624270G>ACA517924987COL4A5c.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=)
Xg.108624270G>CCA413853289COL4A5c.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)
Xg.108624270G>TCA413853288COL4A5c.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)
Xg.108624272delCA2695197173COL4A5c.2954del (p.Gly985ValfsTer11)
n.2410del
c.187del
c.2630del (p.Gly877ValfsTer11)
c.527del (p.Gly176ValfsTer11)
c.2969del (p.Gly990ValfsTer11)
c.1289del (p.Gly430ValfsTer11)
 ClinVar
Xg.108624271G>ACA413853291COL4A5c.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)
Xg.108624271G>CCA413853294COL4A5c.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)
Xg.108624271G>TCA413853295COL4A5c.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
Xg.108624272G>ACA413853298COL4A5c.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)
Xg.108624272G>CCA413853299COL4A5c.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)
Xg.108624272G>TCA413853300COL4A5c.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)
Xg.108624273T>ACA517924992COL4A5c.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=)
Xg.108624273T>CCA517924993COL4A5c.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=)
Xg.108624273T>GCA517924994COL4A5c.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=)
Xg.108624274T>ACA413853301COL4A5c.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)
Xg.108624274T>CCA517924995COL4A5c.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=)
Xg.108624274T>GCA413853303COL4A5c.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)
Xg.108624275T>ACA413853305COL4A5c.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
Xg.108624275T>CCA413853307COL4A5c.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)
Xg.108624275T>GCA413853309COL4A5c.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)
Xg.108624275T=CA2450697338COL4A5c.2957T= (p.Leu986=)
n.2413T=
c.190T=
c.2633T= (p.Leu878=)
c.530T= (p.Leu177=)
c.2972T= (p.Leu991=)
c.1292T= (p.Leu431=)
Xg.108624275_108624293delinsTGCCTGGAGACCCAGGGCACA2450697337COL4A5c.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=)
Xg.108624276G>ACA517924998COL4A5c.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=)
Xg.108624276G>CCA413853312COL4A5c.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)
Xg.108624276G=CA2450697339COL4A5c.2958G= (p.Leu986=)
n.2414G=
c.191G=
c.2634G= (p.Leu878=)
c.531G= (p.Leu177=)
c.2973G= (p.Leu991=)
c.1293G= (p.Leu431=)
Xg.108624276G>TCA334051495COL4A5c.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
Xg.108624276_108624293delCA658799838COL4A5c.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
Xg.108624276_108624294delinsGCCTGGAGACCCAGGGCAACA2450697340COL4A5c.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=)
Xg.108624277C>ACA413853336COL4A5c.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
Xg.108624277C>GCA413853335COL4A5c.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)
Xg.108624277C>TCA413853317COL4A5c.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)
Xg.108624283_108624300delCA258783COL4A5c.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
Xg.108624278C>ACA413853351COL4A5c.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)
Xg.108624278C>GCA413853357COL4A5c.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)
Xg.108624278C>TCA413853358COL4A5c.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)
Xg.108624279T>ACA517925004COL4A5c.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=)
Xg.108624279T>CCA517925005COL4A5c.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=)
Xg.108624279T>GCA517925006COL4A5c.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
Xg.108624279T=CA2450697341COL4A5c.2961T= (p.Pro987=)
n.2417T=
c.194T=
c.2637T= (p.Pro879=)
c.534T= (p.Pro178=)
c.2976T= (p.Pro992=)
c.1296T= (p.Pro432=)
Xg.108624280G>ACA413853360COL4A5c.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)
Xg.108624280G>CCA413853361COL4A5c.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)
Xg.108624280G>TCA413853363COL4A5c.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
Xg.108624281G>ACA413853377COL4A5c.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
Xg.108624281G>CCA413853382COL4A5c.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)
Xg.108624281G=CA2450697342COL4A5c.2963G= (p.Gly988=)
n.2419G=
c.196G=
c.2639G= (p.Gly880=)
c.536G= (p.Gly179=)
c.2978G= (p.Gly993=)
c.1298G= (p.Gly433=)
Xg.108624281G>TCA413853379COL4A5c.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)
Xg.108624282A>CCA517925011COL4A5c.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=)
Xg.108624282A>GCA517925014COL4A5c.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=)
Xg.108624282A>TCA517925016COL4A5c.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=)
Xg.108624282_108624283delinsAGCA2450697343COL4A5c.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=)
Xg.108624283delCA258786COL4A5c.2965del (p.Asp989ThrfsTer7)
n.2421del
c.198del
c.2641del (p.Asp881ThrfsTer7)
c.538del (p.Asp180ThrfsTer7)
c.2980del (p.Asp994ThrfsTer7)
c.1300del (p.Asp434ThrfsTer7)
 dbSNP
Xg.108624283G>ACA413853386COL4A5c.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)
Xg.108624283G>CCA413853387COL4A5c.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)
Xg.108624283G=CA2580701032COL4A5c.2965G= (p.Asp989=)
n.2421G=
c.198G=
c.2641G= (p.Asp881=)
c.538G= (p.Asp180=)
c.2980G= (p.Asp994=)
c.1300G= (p.Asp434=)
Xg.108624283G>TCA413853388COL4A5c.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)
Xg.108624283_108624286delinsCTGAGTGCCCAGTCA2695235749COL4A5c.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)
Xg.108624284A>CCA413853389COL4A5c.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)
Xg.108624284A>GCA413853394COL4A5c.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)
Xg.108624284A>TCA413853391COL4A5c.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)
Xg.108624284_108624301dupCA2694440385COL4A5c.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
Xg.108624285C>ACA413853397COL4A5c.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)
Xg.108624285C>GCA413853399COL4A5c.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)
Xg.108624285C>TCA517925024COL4A5c.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
Xg.108624286C>ACA413853402COL4A5c.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
Xg.108624286C>GCA413853406COL4A5c.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)
Xg.108624286C>TCA413853407COL4A5c.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
Xg.108624287C>ACA413853415COL4A5c.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)
Xg.108624287C>GCA413853413COL4A5c.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)
Xg.108624287C>TCA413853410COL4A5c.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)
Xg.108624288A>CCA517925035COL4A5c.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=)
Xg.108624288A>GCA517925036COL4A5c.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=)
Xg.108624288A>TCA517925037COL4A5c.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=)
Xg.108624289G>ACA413853418COL4A5c.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)
Xg.108624289G>CCA413853419COL4A5c.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)
Xg.108624289G>TCA413853421COL4A5c.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)
Xg.108624290G>ACA413853424COL4A5c.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
Xg.108624290G>CCA413853425COL4A5c.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)
Xg.108624290G>TCA413853431COL4A5c.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)
Xg.108624291G>ACA517925047COL4A5c.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=)
Xg.108624291G>CCA517925045COL4A5c.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=)
Xg.108624291G>TCA517925046COL4A5c.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=)
Xg.108624292C>ACA413853435COL4A5c.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)
Xg.108624292C>GCA413853439COL4A5c.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)
Xg.108624292C>TCA413853436COL4A5c.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
Xg.108624292_108624299delinsCAACCTGGCA2450697344COL4A5c.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=)
Xg.108624293A>CCA413853443COL4A5c.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)
Xg.108624293A>GCA413853449COL4A5c.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)
Xg.108624293A>TCA413853454COL4A5c.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)
Xg.108624294_108624300delCA891843948COL4A5c.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)
Xg.108624294A>CCA413853458COL4A5c.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)
Xg.108624294A>GCA517925049COL4A5c.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=)
Xg.108624294A>TCA413853461COL4A5c.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)
Xg.108624295C>ACA413853464COL4A5c.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)
Xg.108624295C>GCA413853467COL4A5c.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)
Xg.108624295C>TCA413853470COL4A5c.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)
Xg.108624296C>ACA413853473COL4A5c.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)
Xg.108624296C>GCA413853477COL4A5c.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)
Xg.108624296C>TCA413853480COL4A5c.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)
Xg.108624297T>ACA517925053COL4A5c.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=)
Xg.108624297T>CCA517925054COL4A5c.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=)
Xg.108624297T>GCA10489006COL4A5c.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
Xg.108624297T=CA2450697345COL4A5c.2979T= (p.Pro993=)
n.2435T=
c.212T=
c.2655T= (p.Pro885=)
c.552T= (p.Pro184=)
c.2994T= (p.Pro998=)
c.1314T= (p.Pro438=)
Xg.108624298G>ACA413853489COL4A5c.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
Xg.108624298G>CCA413853485COL4A5c.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)
Xg.108624298G>TCA413853492COL4A5c.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)
Xg.108624299G>ACA413853495COL4A5c.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)
Xg.108624299G>CCA413853497COL4A5c.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
Xg.108624299G>TCA413853500COL4A5c.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)
Xg.108624300A=CA2450697346COL4A5c.2982A= (p.Gly994=)
n.2438A=
c.215A=
c.2658A= (p.Gly886=)
c.555A= (p.Gly185=)
c.2997A= (p.Gly999=)
c.1317A= (p.Gly439=)
Xg.108624300A>CCA517925069COL4A5c.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=)
Xg.108624300A>GCA517925071COL4A5c.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
Xg.108624300A>TCA517925066COL4A5c.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=)
Xg.108624301C>ACA10489007COL4A5c.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
Xg.108624301C=CA2450697347COL4A5c.2983C= (p.Leu995=)
n.2439C=
c.216C=
c.2659C= (p.Leu887=)
c.556C= (p.Leu186=)
c.2998C= (p.Leu1000=)
c.1318C= (p.Leu440=)
Xg.108624301C>GCA413853504COL4A5c.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)
Xg.108624301C>TCA517925073COL4A5c.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=)
Xg.108624302T>ACA413853515COL4A5c.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)
Xg.108624302T>CCA413853518COL4A5c.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
Xg.108624302T>GCA413853521COL4A5c.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)
Xg.108624303G>ACA517925079COL4A5c.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=)
Xg.108624303G>CCA517925081COL4A5c.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=)
Xg.108624303G>TCA517925084COL4A5c.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=)
Xg.108624304A>CCA413853524COL4A5c.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)
Xg.108624304A>GCA413853531COL4A5c.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)
Xg.108624304A>TCA413853534COL4A5c.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)
Xg.108624305G>ACA10489008COL4A5c.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
Xg.108624305G>CCA413853539COL4A5c.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)
Xg.108624305G=CA2450697348COL4A5c.2987G= (p.Ser996=)
n.2443G=
c.220G=
c.2663G= (p.Ser888=)
c.560G= (p.Ser187=)
c.3002G= (p.Ser1001=)
c.1322G= (p.Ser441=)
Xg.108624305G>TCA413853541COL4A5c.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
Xg.108624306T>ACA413853547COL4A5c.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)
Xg.108624306T>CCA517925091COL4A5c.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
Xg.108624306T>GCA413853544COL4A5c.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
Xg.108624306T=CA2450697349COL4A5c.2988T= (p.Ser996=)
n.2444T=
c.221T=
c.2664T= (p.Ser888=)
c.561T= (p.Ser187=)
c.3003T= (p.Ser1001=)
c.1323T= (p.Ser441=)
Xg.108624307G>ACA413853551COL4A5c.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)
Xg.108624307G>CCA413853553COL4A5c.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)
Xg.108624307G>TCA413853558COL4A5c.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)
Xg.108624308G>ACA413853561COL4A5c.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)
Xg.108624308G>CCA413853564COL4A5c.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)
Xg.108624308G>TCA413853567COL4A5c.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)
Xg.108624308_108624309insGCAACCTGGACTGAGTGTCA2695235750COL4A5c.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)
Xg.108624309A>CCA517925101COL4A5c.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=)
Xg.108624309A>GCA517925102COL4A5c.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=)
Xg.108624309A>TCA517925103COL4A5c.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=)
Xg.108624310C>ACA10489009COL4A5c.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
Xg.108624310C=CA2450697350COL4A5c.2992C= (p.Gln998=)
n.2448C=
c.225C=
c.2668C= (p.Gln890=)
c.565C= (p.Gln189=)
c.3007C= (p.Gln1003=)
c.1327C= (p.Gln443=)
Xg.108624310C>GCA413853569COL4A5c.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)
Xg.108624310C>TCA413853572COL4A5c.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
Xg.108624311A>CCA413853577COL4A5c.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)
Xg.108624311A>GCA413853580COL4A5c.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)
Xg.108624311A>TCA413853583COL4A5c.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)
Xg.108624312A>CCA413853586COL4A5c.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)
Xg.108624312A>GCA517925107COL4A5c.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=)
Xg.108624312A>TCA413853589COL4A5c.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
Xg.108624313C>ACA413853597COL4A5c.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
Xg.108624313C>GCA413853592COL4A5c.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)
Xg.108624313C>TCA413853595COL4A5c.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)
Xg.108624313_108624315delCA2579676604COL4A5c.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)
Xg.108624314C>ACA10489010COL4A5c.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
Xg.108624314C=CA2450697351COL4A5c.2996C= (p.Pro999=)
n.2452C=
c.229C=
c.2672C= (p.Pro891=)
c.569C= (p.Pro190=)
c.3011C= (p.Pro1004=)
c.1331C= (p.Pro444=)
Xg.108624314C>GCA413853605COL4A5c.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)
Xg.108624314C>TCA413853602COL4A5c.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
Xg.108624315T>ACA517925109COL4A5c.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
Xg.108624315T>CCA517925110COL4A5c.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=)
Xg.108624315T>GCA517925112COL4A5c.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=)
Xg.108624315T=CA2450697352COL4A5c.2997T= (p.Pro999=)
n.2453T=
c.230T=
c.2673T= (p.Pro891=)
c.570T= (p.Pro190=)
c.3012T= (p.Pro1004=)
c.1332T= (p.Pro444=)
Xg.108624316G>ACA413853607COL4A5c.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
Xg.108624316G>CCA413853610COL4A5c.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)
Xg.108624316G=CA2450697353COL4A5c.2998G= (p.Gly1000=)
n.2454G=
c.231G=
c.2674G= (p.Gly892=)
c.571G= (p.Gly191=)
c.3013G= (p.Gly1005=)
c.1333G= (p.Gly445=)
Xg.108624316G>TCA413853613COL4A5c.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)
Xg.108624317G>ACA413853616COL4A5c.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
Xg.108624317G>CCA413853619COL4A5c.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)
Xg.108624317G=CA2450697354COL4A5c.2999G= (p.Gly1000=)
n.2455G=
c.232G=
c.2675G= (p.Gly892=)
c.572G= (p.Gly191=)
c.3014G= (p.Gly1005=)
c.1334G= (p.Gly445=)
Xg.108624317G>TCA258787COL4A5c.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
Xg.108624318A>CCA517925116COL4A5c.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=)
Xg.108624318A>GCA517925118COL4A5c.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
Xg.108624318A>TCA517925120COL4A5c.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=)
Xg.108624319T>ACA413853624COL4A5c.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)
Xg.108624319T>CCA10489011COL4A5c.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
Xg.108624319T>GCA413853628COL4A5c.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)
Xg.108624319T=CA2450697355COL4A5c.3001T= (p.Leu1001=)
n.2457T=
c.234T=
c.2677T= (p.Leu893=)
c.574T= (p.Leu192=)
c.3016T= (p.Leu1006=)
c.1336T= (p.Leu446=)
Xg.108624320delCA2579676605COL4A5c.3002del (p.Leu1001TyrfsTer20)
n.2458del
c.235del
c.2678del (p.Leu893TyrfsTer20)
c.575del (p.Leu192TyrfsTer20)
c.3017del (p.Leu1006TyrfsTer20)
c.1337del (p.Leu446TyrfsTer20)
Xg.108624320T>ACA413853632COL4A5c.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
Xg.108624320T>CCA413853633COL4A5c.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)
Xg.108624320T>GCA413853636COL4A5c.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)
Xg.108624321delCA2551621672COL4A5c.3003del (p.Leu1001PhefsTer20)
n.2459del
c.236del
c.2679del (p.Leu893PhefsTer20)
c.576del (p.Leu192PhefsTer20)
c.3018del (p.Leu1006PhefsTer20)
c.1338del (p.Leu446PhefsTer20)
Xg.108624321A>CCA413853639COL4A5c.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)
Xg.108624321A>GCA517925123COL4A5c.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
Xg.108624321A>TCA413853642COL4A5c.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)
Xg.108624322C>ACA413853647COL4A5c.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)
Xg.108624322C>GCA413853651COL4A5c.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)
Xg.108624322C>TCA413853653COL4A5c.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)
Xg.108624323C>ACA413853657COL4A5c.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)
Xg.108624323C>GCA413853661COL4A5c.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)
Xg.108624323C>TCA413853663COL4A5c.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
Xg.108624324A>CCA517925132COL4A5c.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=)
Xg.108624324A>GCA517925134COL4A5c.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
Xg.108624324A>TCA517925137COL4A5c.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
Xg.108624325G>ACA413853669COL4A5c.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)
Xg.108624325G>CCA413853671COL4A5c.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)
Xg.108624325G>TCA413853673COL4A5c.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)
Xg.108624326G>ACA413853675COL4A5c.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)
Xg.108624326G>CCA413853677COL4A5c.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)
Xg.108624326G>TCA413853678COL4A5c.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
Xg.108624327A>CCA517925142COL4A5c.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=)
Xg.108624327A>GCA517925143COL4A5c.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=)
Xg.108624327A>TCA517925144COL4A5c.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=)
Xg.108624328C>ACA413853682COL4A5c.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
Xg.108624328C>GCA413853687COL4A5c.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)
Xg.108624328C>TCA413853684COL4A5c.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
Xg.108624329delCA2579676606COL4A5c.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
Xg.108624329C>ACA413853690COL4A5c.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
Xg.108624329C>GCA413853695COL4A5c.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)
Xg.108624329C>TCA413853693COL4A5c.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)
Xg.108624330A=CA2450697356COL4A5c.3012A= (p.Pro1004=)
n.2468A=
c.245A=
c.2688A= (p.Pro896=)
c.585A= (p.Pro195=)
c.3027A= (p.Pro1009=)
c.1347A= (p.Pro449=)
Xg.108624330A>CCA517925146COL4A5c.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
Xg.108624330A>GCA10489012COL4A5c.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
Xg.108624330A>TCA517925147COL4A5c.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=)
Xg.108624331C>ACA413853699COL4A5c.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)
Xg.108624331C>GCA413853701COL4A5c.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)
Xg.108624331C>TCA413853702COL4A5c.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)
Xg.108624332delCA2579676607COL4A5c.3014del (p.Pro1005GlnfsTer16)
n.2470del
c.247del
c.2690del (p.Pro897GlnfsTer16)
c.587del (p.Pro196GlnfsTer16)
c.3029del (p.Pro1010GlnfsTer16)
c.1349del (p.Pro450GlnfsTer16)
Xg.108624332C>ACA413853705COL4A5c.3014C>A (p.Pro1005Gln)
n.2470C>A
c.247C>A
c.2690C>A (p.Pro897Gln)
c.587C>A (p.Pro196Gln)
c.3029C>A (p.Pro1010Gln)
c.1349C>A (p.Pro450Gln)
 gnomAD v4
Xg.108624332C>GCA413853708COL4A5c.3014C>G (p.Pro1005Arg)
n.2470C>G
c.247C>G
c.2690C>G (p.Pro897Arg)
c.587C>G (p.Pro196Arg)
c.3029C>G (p.Pro1010Arg)
c.1349C>G (p.Pro450Arg)
Xg.108624332C>TCA413853711COL4A5c.3014C>T (p.Pro1005Leu)
n.2470C>T
c.247C>T
c.2690C>T (p.Pro897Leu)
c.587C>T (p.Pro196Leu)
c.3029C>T (p.Pro1010Leu)
c.1349C>T (p.Pro450Leu)
Xg.108624333A=CA2450697357COL4A5c.3015A= (p.Pro1005=)
n.2471A=
c.248A=
c.2691A= (p.Pro897=)
c.588A= (p.Pro196=)
c.3030A= (p.Pro1010=)
c.1350A= (p.Pro450=)
Xg.108624333A>CCA517925163COL4A5c.3015A>C (p.Pro1005=)
n.2471A>C
c.248A>C
c.2691A>C (p.Pro897=)
c.588A>C (p.Pro196=)
c.3030A>C (p.Pro1010=)
c.1350A>C (p.Pro450=)
Xg.108624333A>GCA517925157COL4A5c.3015A>G (p.Pro1005=)
n.2471A>G
c.248A>G
c.2691A>G (p.Pro897=)
c.588A>G (p.Pro196=)
c.3030A>G (p.Pro1010=)
c.1350A>G (p.Pro450=)
 dbSNP gnomAD v2
Xg.108624333A>TCA517925156COL4A5c.3015A>T (p.Pro1005=)
n.2471A>T
c.248A>T
c.2691A>T (p.Pro897=)
c.588A>T (p.Pro196=)
c.3030A>T (p.Pro1010=)
c.1350A>T (p.Pro450=)
 gnomAD v4
Xg.108624334G>ACA413853714COL4A5c.3016G>A (p.Gly1006Ser)
n.2472G>A
c.249G>A
c.2692G>A (p.Gly898Ser)
c.589G>A (p.Gly197Ser)
c.3031G>A (p.Gly1011Ser)
c.1351G>A (p.Gly451Ser)
Xg.108624334G>CCA413853716COL4A5c.3016G>C (p.Gly1006Arg)
n.2472G>C
c.249G>C
c.2692G>C (p.Gly898Arg)
c.589G>C (p.Gly197Arg)
c.3031G>C (p.Gly1011Arg)
c.1351G>C (p.Gly451Arg)
Xg.108624334G>TCA413853717COL4A5c.3016G>T (p.Gly1006Cys)
n.2472G>T
c.249G>T
c.2692G>T (p.Gly898Cys)
c.589G>T (p.Gly197Cys)
c.3031G>T (p.Gly1011Cys)
c.1351G>T (p.Gly451Cys)
Xg.108624335G>ACA413854304COL4A5c.3016+1G>A (n.3016+1G>A)
n.2472+1G>A
c.249+1G>A
c.2692+1G>A (n.2692+1G>A)
c.589+1G>A (n.589+1G>A)
c.3031+1G>A (n.3031+1G>A)
c.1351+1G>A (n.1351+1G>A)
 ClinVar
Xg.108624335G>CCA413854305COL4A5c.3016+1G>C (n.3016+1G>C)
n.2472+1G>C
c.249+1G>C
c.2692+1G>C (n.2692+1G>C)
c.589+1G>C (n.589+1G>C)
c.3031+1G>C (n.3031+1G>C)
c.1351+1G>C (n.1351+1G>C)
Xg.108624335G=CA2450697358COL4A5c.3016+1G= (n.3016+1G=)
n.2472+1G=
c.249+1G=
c.2692+1G= (n.2692+1G=)
c.589+1G= (n.589+1G=)
c.3031+1G= (n.3031+1G=)
c.1351+1G= (n.1351+1G=)
Xg.108624335G>TCA258790COL4A5c.3016+1G>T (n.3016+1G>T)
n.2472+1G>T
c.249+1G>T
c.2692+1G>T (n.2692+1G>T)
c.589+1G>T (n.589+1G>T)
c.3031+1G>T (n.3031+1G>T)
c.1351+1G>T (n.1351+1G>T)
 dbSNP
Xg.108624336T>ACA413854307COL4A5c.3016+2T>A (n.3016+2T>A)
n.2472+2T>A
c.249+2T>A
c.2692+2T>A (n.2692+2T>A)
c.589+2T>A (n.589+2T>A)
c.3031+2T>A (n.3031+2T>A)
c.1351+2T>A (n.1351+2T>A)
Xg.108624336T>CCA413854312COL4A5c.3016+2T>C (n.3016+2T>C)
n.2472+2T>C
c.249+2T>C
c.2692+2T>C (n.2692+2T>C)
c.589+2T>C (n.589+2T>C)
c.3031+2T>C (n.3031+2T>C)
c.1351+2T>C (n.1351+2T>C)
 ClinVar dbSNP
Xg.108624336T>GCA413854310COL4A5c.3016+2T>G (n.3016+2T>G)
n.2472+2T>G
c.249+2T>G
c.2692+2T>G (n.2692+2T>G)
c.589+2T>G (n.589+2T>G)
c.3031+2T>G (n.3031+2T>G)
c.1351+2T>G (n.1351+2T>G)
Xg.108624337A=CA2450697359COL4A5c.3016+3A= (n.3016+3A=)
n.2472+3A=
c.249+3A=
c.2692+3A= (n.2692+3A=)
c.589+3A= (n.589+3A=)
c.3031+3A= (n.3031+3A=)
c.1351+3A= (n.1351+3A=)
Xg.108624337A>CCA869815720COL4A5c.3016+3A>C (n.3016+3A>C)
n.2472+3A>C
c.249+3A>C
c.2692+3A>C (n.2692+3A>C)
c.589+3A>C (n.589+3A>C)
c.3031+3A>C (n.3031+3A>C)
c.1351+3A>C (n.1351+3A>C)
 dbSNP
Xg.108624340T>ACA2694440386COL4A5c.3016+6T>A (n.3016+6T>A)
n.2472+6T>A
c.249+6T>A
c.2692+6T>A (n.2692+6T>A)
c.589+6T>A (n.589+6T>A)
c.3031+6T>A (n.3031+6T>A)
c.1351+6T>A (n.1351+6T>A)
 gnomAD v4
Xg.108624340T>CCA643630616COL4A5c.3016+6T>C (n.3016+6T>C)
n.2472+6T>C
c.249+6T>C
c.2692+6T>C (n.2692+6T>C)
c.589+6T>C (n.589+6T>C)
c.3031+6T>C (n.3031+6T>C)
c.1351+6T>C (n.1351+6T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108624340T=CA2450697360COL4A5c.3016+6T= (n.3016+6T=)
n.2472+6T=
c.249+6T=
c.2692+6T= (n.2692+6T=)
c.589+6T= (n.589+6T=)
c.3031+6T= (n.3031+6T=)
c.1351+6T= (n.1351+6T=)
Xg.108624341G>TCA2580100207COL4A5c.3016+7G>T (n.3016+7G>T)
n.2472+7G>T
c.249+7G>T
c.2692+7G>T (n.2692+7G>T)
c.589+7G>T (n.589+7G>T)
c.3031+7G>T (n.3031+7G>T)
c.1351+7G>T (n.1351+7G>T)
 ClinVar gnomAD v4
Xg.108624342T>CCA2579676608COL4A5c.3016+8T>C (n.3016+8T>C)
n.2472+8T>C
c.249+8T>C
c.2692+8T>C (n.2692+8T>C)
c.589+8T>C (n.589+8T>C)
c.3031+8T>C (n.3031+8T>C)
c.1351+8T>C (n.1351+8T>C)
Xg.108624344A>GCA2739273702COL4A5c.3016+10A>G (n.3016+10A>G)
n.2472+10A>G
c.249+10A>G
c.2692+10A>G (n.2692+10A>G)
c.589+10A>G (n.589+10A>G)
c.3031+10A>G (n.3031+10A>G)
c.1351+10A>G (n.1351+10A>G)
 ClinVar
Xg.108624346A>GCA2694440387COL4A5c.3016+12A>G (n.3016+12A>G)
n.2472+12A>G
c.249+12A>G
c.2692+12A>G (n.2692+12A>G)
c.589+12A>G (n.589+12A>G)
c.3031+12A>G (n.3031+12A>G)
c.1351+12A>G (n.1351+12A>G)
 gnomAD v4
Xg.108624347G>TCA2822894609COL4A5c.3016+13G>T (n.3016+13G>T)
n.2472+13G>T
c.249+13G>T
c.2692+13G>T (n.2692+13G>T)
c.589+13G>T (n.589+13G>T)
c.3031+13G>T (n.3031+13G>T)
c.1351+13G>T (n.1351+13G>T)
Xg.108624348G>ACA2694440388COL4A5c.3016+14G>A (n.3016+14G>A)
n.2472+14G>A
c.249+14G>A
c.2692+14G>A (n.2692+14G>A)
c.589+14G>A (n.589+14G>A)
c.3031+14G>A (n.3031+14G>A)
c.1351+14G>A (n.1351+14G>A)
 gnomAD v4
Xg.108624348G>CCA2450697361COL4A5c.3016+14G>C (n.3016+14G>C)
n.2472+14G>C
c.249+14G>C
c.2692+14G>C (n.2692+14G>C)
c.589+14G>C (n.589+14G>C)
c.3031+14G>C (n.3031+14G>C)
c.1351+14G>C (n.1351+14G>C)
 dbSNP gnomAD v4
Xg.108624348G=CA2450697362COL4A5c.3016+14G= (n.3016+14G=)
n.2472+14G=
c.249+14G=
c.2692+14G= (n.2692+14G=)
c.589+14G= (n.589+14G=)
c.3031+14G= (n.3031+14G=)
c.1351+14G= (n.1351+14G=)
Xg.108624349C>ACA2694440389COL4A5c.3016+15C>A (n.3016+15C>A)
n.2472+15C>A
c.249+15C>A
c.2692+15C>A (n.2692+15C>A)
c.589+15C>A (n.589+15C>A)
c.3031+15C>A (n.3031+15C>A)
c.1351+15C>A (n.1351+15C>A)
 gnomAD v4
Xg.108624349C>TCA2694440390COL4A5c.3016+15C>T (n.3016+15C>T)
n.2472+15C>T
c.249+15C>T
c.2692+15C>T (n.2692+15C>T)
c.589+15C>T (n.589+15C>T)
c.3031+15C>T (n.3031+15C>T)
c.1351+15C>T (n.1351+15C>T)
 gnomAD v4
Xg.108624350C>ACA2694440391COL4A5c.3016+16C>A (n.3016+16C>A)
n.2472+16C>A
c.249+16C>A
c.2692+16C>A (n.2692+16C>A)
c.589+16C>A (n.589+16C>A)
c.3031+16C>A (n.3031+16C>A)
c.1351+16C>A (n.1351+16C>A)
 gnomAD v4

Number of alleles fetched