Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108573582A>CCA517991595COL4A5c.474A>C (p.Pro158=)
c.150A>C (p.Pro50=)
c.489A>C (p.Pro163=)
Xg.108573582A>GCA517991596COL4A5c.474A>G (p.Pro158=)
c.150A>G (p.Pro50=)
c.489A>G (p.Pro163=)
 gnomAD v4
Xg.108573582A>TCA517991597COL4A5c.474A>T (p.Pro158=)
c.150A>T (p.Pro50=)
c.489A>T (p.Pro163=)
Xg.108573582_108573583delinsAGCA2450680714COL4A5c.474_475delinsAG (p.Pro158=)
c.150_151delinsAG (p.Pro50=)
c.489_490delinsAG (p.Pro163=)
Xg.108573583G>ACA413920752COL4A5c.475G>A (p.Gly159Ser)
c.151G>A (p.Gly51Ser)
c.490G>A (p.Gly164Ser)
 gnomAD v4
Xg.108573583G>CCA413920754COL4A5c.475G>C (p.Gly159Arg)
c.151G>C (p.Gly51Arg)
c.490G>C (p.Gly164Arg)
Xg.108573583G>TCA413920756COL4A5c.475G>T (p.Gly159Cys)
c.151G>T (p.Gly51Cys)
c.490G>T (p.Gly164Cys)
Xg.108573584delCA261042COL4A5c.476del (p.Gly159ValfsTer3)
c.152del (p.Gly51ValfsTer3)
c.491del (p.Gly164ValfsTer3)
 dbSNP
Xg.108573583_108573585delinsGGTCA2450680715COL4A5c.475_477delinsGGT (p.Gly159=)
c.151_153delinsGGT (p.Gly51=)
c.490_492delinsGGT (p.Gly164=)
Xg.108573584G>ACA413920761COL4A5c.476G>A (p.Gly159Asp)
c.152G>A (p.Gly51Asp)
c.491G>A (p.Gly164Asp)
 ClinVar dbSNP
Xg.108573584G>CCA413920763COL4A5c.476G>C (p.Gly159Ala)
c.152G>C (p.Gly51Ala)
c.491G>C (p.Gly164Ala)
Xg.108573584G>TCA413920766COL4A5c.476G>T (p.Gly159Val)
c.152G>T (p.Gly51Val)
c.491G>T (p.Gly164Val)
 ClinVar
Xg.108573584_108573585delCA2450680716COL4A5c.476_477del (p.Gly159GlufsTer13)
c.152_153del (p.Gly51GlufsTer13)
c.491_492del (p.Gly164GlufsTer13)
 dbSNP
Xg.108573585T>ACA517991599COL4A5c.477T>A (p.Gly159=)
c.153T>A (p.Gly51=)
c.492T>A (p.Gly164=)
Xg.108573585T>CCA517991598COL4A5c.477T>C (p.Gly159=)
c.153T>C (p.Gly51=)
c.492T>C (p.Gly164=)
Xg.108573585T>GCA517991600COL4A5c.477T>G (p.Gly159=)
c.153T>G (p.Gly51=)
c.492T>G (p.Gly164=)
Xg.108573586A>CCA413920770COL4A5c.478A>C (p.Ser160Arg)
c.154A>C (p.Ser52Arg)
c.493A>C (p.Ser165Arg)
Xg.108573586A>GCA413920773COL4A5c.478A>G (p.Ser160Gly)
c.154A>G (p.Ser52Gly)
c.493A>G (p.Ser165Gly)
Xg.108573586A>TCA413920775COL4A5c.478A>T (p.Ser160Cys)
c.154A>T (p.Ser52Cys)
c.493A>T (p.Ser165Cys)
Xg.108573586_108573588delinsAGTCA2450680717COL4A5c.478_480delinsAGT (p.Ser160=)
c.154_156delinsAGT (p.Ser52=)
c.493_495delinsAGT (p.Ser165=)
Xg.108573587G>ACA334179514COL4A5c.479G>A (p.Ser160Asn)
c.155G>A (p.Ser52Asn)
c.494G>A (p.Ser165Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573587G>CCA413920780COL4A5c.479G>C (p.Ser160Thr)
c.155G>C (p.Ser52Thr)
c.494G>C (p.Ser165Thr)
 gnomAD v4
Xg.108573587G=CA2450680719COL4A5c.479G= (p.Ser160=)
c.155G= (p.Ser52=)
c.494G= (p.Ser165=)
Xg.108573587G>TCA413920777COL4A5c.479G>T (p.Ser160Ile)
c.155G>T (p.Ser52Ile)
c.494G>T (p.Ser165Ile)
Xg.108573587_108573588delCA2450680718COL4A5c.479_480del (p.Ser160AsnfsTer12)
c.155_156del (p.Ser52AsnfsTer12)
c.494_495del (p.Ser165AsnfsTer12)
 dbSNP
Xg.108573588T>ACA413920783COL4A5c.480T>A (p.Ser160Arg)
c.156T>A (p.Ser52Arg)
c.495T>A (p.Ser165Arg)
Xg.108573588T>CCA517991601COL4A5c.480T>C (p.Ser160=)
c.156T>C (p.Ser52=)
c.495T>C (p.Ser165=)
 gnomAD v4
Xg.108573588T>GCA413920785COL4A5c.480T>G (p.Ser160Arg)
c.156T>G (p.Ser52Arg)
c.495T>G (p.Ser165Arg)
Xg.108573589A=CA2450680720COL4A5c.481A= (p.Ile161=)
c.157A= (p.Ile53=)
c.496A= (p.Ile166=)
Xg.108573589A>CCA413920788COL4A5c.481A>C (p.Ile161Leu)
c.157A>C (p.Ile53Leu)
c.496A>C (p.Ile166Leu)
Xg.108573589A>GCA413920790COL4A5c.481A>G (p.Ile161Val)
c.157A>G (p.Ile53Val)
c.496A>G (p.Ile166Val)
 dbSNP gnomAD v3 gnomAD v4
Xg.108573589A>TCA413920792COL4A5c.481A>T (p.Ile161Leu)
c.157A>T (p.Ile53Leu)
c.496A>T (p.Ile166Leu)
Xg.108573590T>ACA413920794COL4A5c.482T>A (p.Ile161Lys)
c.158T>A (p.Ile53Lys)
c.497T>A (p.Ile166Lys)
Xg.108573590T>CCA413920796COL4A5c.482T>C (p.Ile161Thr)
c.158T>C (p.Ile53Thr)
c.497T>C (p.Ile166Thr)
Xg.108573590T>GCA413920798COL4A5c.482T>G (p.Ile161Arg)
c.158T>G (p.Ile53Arg)
c.497T>G (p.Ile166Arg)
Xg.108573591A>CCA517991602COL4A5c.483A>C (p.Ile161=)
c.159A>C (p.Ile53=)
c.498A>C (p.Ile166=)
Xg.108573591A>GCA413920800COL4A5c.483A>G (p.Ile161Met)
c.159A>G (p.Ile53Met)
c.498A>G (p.Ile166Met)
Xg.108573591A>TCA517991603COL4A5c.483A>T (p.Ile161=)
c.159A>T (p.Ile53=)
c.498A>T (p.Ile166=)
Xg.108573592A>CCA413920803COL4A5c.484A>C (p.Ile162Leu)
c.160A>C (p.Ile54Leu)
c.499A>C (p.Ile167Leu)
Xg.108573592A>GCA413920806COL4A5c.484A>G (p.Ile162Val)
c.160A>G (p.Ile54Val)
c.499A>G (p.Ile167Val)
Xg.108573592A>TCA413920807COL4A5c.484A>T (p.Ile162Phe)
c.160A>T (p.Ile54Phe)
c.499A>T (p.Ile167Phe)
Xg.108573593T>ACA413920814COL4A5c.485T>A (p.Ile162Asn)
c.161T>A (p.Ile54Asn)
c.500T>A (p.Ile167Asn)
Xg.108573593T>CCA413920810COL4A5c.485T>C (p.Ile162Thr)
c.161T>C (p.Ile54Thr)
c.500T>C (p.Ile167Thr)
Xg.108573593T>GCA413920812COL4A5c.485T>G (p.Ile162Ser)
c.161T>G (p.Ile54Ser)
c.500T>G (p.Ile167Ser)
Xg.108573594T>ACA517991604COL4A5c.486T>A (p.Ile162=)
c.162T>A (p.Ile54=)
c.501T>A (p.Ile167=)
Xg.108573594T>CCA517991605COL4A5c.486T>C (p.Ile162=)
c.162T>C (p.Ile54=)
c.501T>C (p.Ile167=)
Xg.108573594T>GCA413920817COL4A5c.486T>G (p.Ile162Met)
c.162T>G (p.Ile54Met)
c.501T>G (p.Ile167Met)
Xg.108573595A=CA2450680721COL4A5c.487A= (p.Met163=)
c.163A= (p.Met55=)
c.502A= (p.Met168=)
Xg.108573595A>CCA413920820COL4A5c.487A>C (p.Met163Leu)
c.163A>C (p.Met55Leu)
c.502A>C (p.Met168Leu)
Xg.108573595A>GCA413920823COL4A5c.487A>G (p.Met163Val)
c.163A>G (p.Met55Val)
c.502A>G (p.Met168Val)
 dbSNP COSMIC
Xg.108573595A>TCA413920825COL4A5c.487A>T (p.Met163Leu)
c.163A>T (p.Met55Leu)
c.502A>T (p.Met168Leu)
Xg.108573596T>ACA413920828COL4A5c.488T>A (p.Met163Lys)
c.164T>A (p.Met55Lys)
c.503T>A (p.Met168Lys)
Xg.108573596T>CCA10488477COL4A5c.488T>C (p.Met163Thr)
c.164T>C (p.Met55Thr)
c.503T>C (p.Met168Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573596T>GCA413920833COL4A5c.488T>G (p.Met163Arg)
c.164T>G (p.Met55Arg)
c.503T>G (p.Met168Arg)
Xg.108573596T=CA2450680722COL4A5c.488T= (p.Met163=)
c.164T= (p.Met55=)
c.503T= (p.Met168=)
Xg.108573597G>ACA413920836COL4A5c.489G>A (p.Met163Ile)
c.165G>A (p.Met55Ile)
c.504G>A (p.Met168Ile)
Xg.108573597G>CCA413920838COL4A5c.489G>C (p.Met163Ile)
c.165G>C (p.Met55Ile)
c.504G>C (p.Met168Ile)
Xg.108573597G>TCA413920840COL4A5c.489G>T (p.Met163Ile)
c.165G>T (p.Met55Ile)
c.504G>T (p.Met168Ile)
Xg.108573598T>ACA413920844COL4A5c.490T>A (p.Ser164Thr)
c.166T>A (p.Ser56Thr)
c.505T>A (p.Ser169Thr)
Xg.108573598T>CCA413920846COL4A5c.490T>C (p.Ser164Pro)
c.166T>C (p.Ser56Pro)
c.505T>C (p.Ser169Pro)
 gnomAD v4
Xg.108573598T>GCA413920848COL4A5c.490T>G (p.Ser164Ala)
c.166T>G (p.Ser56Ala)
c.505T>G (p.Ser169Ala)
Xg.108573599C>ACA413920852COL4A5c.491C>A (p.Ser164Ter)
c.167C>A (p.Ser56Ter)
c.506C>A (p.Ser169Ter)
 gnomAD v4
Xg.108573599C>GCA413920854COL4A5c.491C>G (p.Ser164Ter)
c.167C>G (p.Ser56Ter)
c.506C>G (p.Ser169Ter)
Xg.108573599C>TCA413920851COL4A5c.491C>T (p.Ser164Leu)
c.167C>T (p.Ser56Leu)
c.506C>T (p.Ser169Leu)
 gnomAD v4
Xg.108573600A=CA2450680723COL4A5c.492A= (p.Ser164=)
c.168A= (p.Ser56=)
c.507A= (p.Ser169=)
Xg.108573600A>CCA517991608COL4A5c.492A>C (p.Ser164=)
c.168A>C (p.Ser56=)
c.507A>C (p.Ser169=)
Xg.108573600A>GCA517991607COL4A5c.492A>G (p.Ser164=)
c.168A>G (p.Ser56=)
c.507A>G (p.Ser169=)
 dbSNP
Xg.108573600A>TCA517991606COL4A5c.492A>T (p.Ser164=)
c.168A>T (p.Ser56=)
c.507A>T (p.Ser169=)
Xg.108573601T>ACA413920860COL4A5c.493T>A (p.Ser165Thr)
c.169T>A (p.Ser57Thr)
c.508T>A (p.Ser170Thr)
Xg.108573601T>CCA10488478COL4A5c.493T>C (p.Ser165Pro)
c.169T>C (p.Ser57Pro)
c.508T>C (p.Ser170Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108573601T>GCA413920858COL4A5c.493T>G (p.Ser165Ala)
c.169T>G (p.Ser57Ala)
c.508T>G (p.Ser170Ala)
Xg.108573601T=CA2450680724COL4A5c.493T= (p.Ser165=)
c.169T= (p.Ser57=)
c.508T= (p.Ser170=)
Xg.108573602C>ACA413920863COL4A5c.494C>A (p.Ser165Ter)
c.170C>A (p.Ser57Ter)
c.509C>A (p.Ser170Ter)
 ClinVar dbSNP
Xg.108573602C=CA2450680726COL4A5c.494C= (p.Ser165=)
c.170C= (p.Ser57=)
c.509C= (p.Ser170=)
Xg.108573602C>GCA413920865COL4A5c.494C>G (p.Ser165Ter)
c.170C>G (p.Ser57Ter)
c.509C>G (p.Ser170Ter)
 ClinVar dbSNP
Xg.108573602C>TCA413920868COL4A5c.494C>T (p.Ser165Leu)
c.170C>T (p.Ser57Leu)
c.509C>T (p.Ser170Leu)
 gnomAD v4
Xg.108573603A>CCA517991609COL4A5c.495A>C (p.Ser165=)
c.171A>C (p.Ser57=)
c.510A>C (p.Ser170=)
Xg.108573603A>GCA517991610COL4A5c.495A>G (p.Ser165=)
c.171A>G (p.Ser57=)
c.510A>G (p.Ser170=)
Xg.108573603A>TCA517991611COL4A5c.495A>T (p.Ser165=)
c.171A>T (p.Ser57=)
c.510A>T (p.Ser170=)
Xg.108573604C>ACA413920870COL4A5c.496C>A (p.Leu166Met)
c.172C>A (p.Leu58Met)
c.511C>A (p.Leu171Met)
Xg.108573604C>GCA413920872COL4A5c.496C>G (p.Leu166Val)
c.172C>G (p.Leu58Val)
c.511C>G (p.Leu171Val)
Xg.108573604C>TCA517991612COL4A5c.496C>T (p.Leu166=)
c.172C>T (p.Leu58=)
c.511C>T (p.Leu171=)
 ClinVar
Xg.108573605T>ACA413920875COL4A5c.497T>A (p.Leu166Gln)
c.173T>A (p.Leu58Gln)
c.512T>A (p.Leu171Gln)
Xg.108573605T>CCA413920877COL4A5c.497T>C (p.Leu166Pro)
c.173T>C (p.Leu58Pro)
c.512T>C (p.Leu171Pro)
Xg.108573605T>GCA413920880COL4A5c.497T>G (p.Leu166Arg)
c.173T>G (p.Leu58Arg)
c.512T>G (p.Leu171Arg)
Xg.108573606G>ACA517991613COL4A5c.498G>A (p.Leu166=)
c.174G>A (p.Leu58=)
c.513G>A (p.Leu171=)
Xg.108573606G>CCA517991614COL4A5c.498G>C (p.Leu166=)
c.174G>C (p.Leu58=)
c.513G>C (p.Leu171=)
Xg.108573606G>TCA517991615COL4A5c.498G>T (p.Leu166=)
c.174G>T (p.Leu58=)
c.513G>T (p.Leu171=)
 gnomAD v4
Xg.108573607_108573620delCA2535902988COL4A5c.499_512del (p.Pro167Ter)
c.175_188del (p.Pro59Ter)
c.514_527del (p.Pro172Ter)
Xg.108573607C>ACA413920883COL4A5c.499C>A (p.Pro167Thr)
c.175C>A (p.Pro59Thr)
c.514C>A (p.Pro172Thr)
Xg.108573607C>GCA413920886COL4A5c.499C>G (p.Pro167Ala)
c.175C>G (p.Pro59Ala)
c.514C>G (p.Pro172Ala)
Xg.108573607C>TCA413920889COL4A5c.499C>T (p.Pro167Ser)
c.175C>T (p.Pro59Ser)
c.514C>T (p.Pro172Ser)
 COSMIC COSMIC
Xg.108573608delCA2695235179COL4A5c.500del (p.Pro167GlnfsTer?)
c.176del (p.Pro59GlnfsTer?)
c.515del (p.Pro172GlnfsTer?)
Xg.108573608C>ACA413920896COL4A5c.500C>A (p.Pro167Gln)
c.176C>A (p.Pro59Gln)
c.515C>A (p.Pro172Gln)
 dbSNP
Xg.108573608C=CA2450680727COL4A5c.500C= (p.Pro167=)
c.176C= (p.Pro59=)
c.515C= (p.Pro172=)
Xg.108573608C>GCA413920892COL4A5c.500C>G (p.Pro167Arg)
c.176C>G (p.Pro59Arg)
c.515C>G (p.Pro172Arg)
Xg.108573608C>TCA413920893COL4A5c.500C>T (p.Pro167Leu)
c.176C>T (p.Pro59Leu)
c.515C>T (p.Pro172Leu)
Xg.108573609A>CCA517991616COL4A5c.501A>C (p.Pro167=)
c.177A>C (p.Pro59=)
c.516A>C (p.Pro172=)
 ClinVar
Xg.108573609A>GCA517991617COL4A5c.501A>G (p.Pro167=)
c.177A>G (p.Pro59=)
c.516A>G (p.Pro172=)
 ClinVar gnomAD v4
Xg.108573609A>TCA517991618COL4A5c.501A>T (p.Pro167=)
c.177A>T (p.Pro59=)
c.516A>T (p.Pro172=)
Xg.108573610G>ACA413920899COL4A5c.502G>A (p.Gly168Arg)
c.178G>A (p.Gly60Arg)
c.517G>A (p.Gly173Arg)
 gnomAD v4 COSMIC COSMIC
Xg.108573610G>CCA413920903COL4A5c.502G>C (p.Gly168Arg)
c.178G>C (p.Gly60Arg)
c.517G>C (p.Gly173Arg)
Xg.108573610G>TCA413920904COL4A5c.502G>T (p.Gly168Ter)
c.178G>T (p.Gly60Ter)
c.517G>T (p.Gly173Ter)
Xg.108573611G>ACA413920907COL4A5c.503G>A (p.Gly168Glu)
c.179G>A (p.Gly60Glu)
c.518G>A (p.Gly173Glu)
Xg.108573611G>CCA413920909COL4A5c.503G>C (p.Gly168Ala)
c.179G>C (p.Gly60Ala)
c.518G>C (p.Gly173Ala)
Xg.108573611G>TCA413920911COL4A5c.503G>T (p.Gly168Val)
c.179G>T (p.Gly60Val)
c.518G>T (p.Gly173Val)
Xg.108573612A>CCA517991619COL4A5c.504A>C (p.Gly168=)
c.180A>C (p.Gly60=)
c.519A>C (p.Gly173=)
Xg.108573612A>GCA517991620COL4A5c.504A>G (p.Gly168=)
c.180A>G (p.Gly60=)
c.519A>G (p.Gly173=)
Xg.108573612A>TCA517991621COL4A5c.504A>T (p.Gly168=)
c.180A>T (p.Gly60=)
c.519A>T (p.Gly173=)
 gnomAD v4
Xg.108573613C>ACA413920912COL4A5c.505C>A (p.Pro169Thr)
c.181C>A (p.Pro61Thr)
c.520C>A (p.Pro174Thr)
Xg.108573613C>GCA413920915COL4A5c.505C>G (p.Pro169Ala)
c.181C>G (p.Pro61Ala)
c.520C>G (p.Pro174Ala)
Xg.108573613C>TCA413920917COL4A5c.505C>T (p.Pro169Ser)
c.181C>T (p.Pro61Ser)
c.520C>T (p.Pro174Ser)
 COSMIC COSMIC
Xg.108573614C>ACA413920920COL4A5c.506C>A (p.Pro169Gln)
c.182C>A (p.Pro61Gln)
c.521C>A (p.Pro174Gln)
 gnomAD v4
Xg.108573614C>GCA413920921COL4A5c.506C>G (p.Pro169Arg)
c.182C>G (p.Pro61Arg)
c.521C>G (p.Pro174Arg)
Xg.108573614C>TCA413920924COL4A5c.506C>T (p.Pro169Leu)
c.182C>T (p.Pro61Leu)
c.521C>T (p.Pro174Leu)
Xg.108573615A>CCA517991622COL4A5c.507A>C (p.Pro169=)
c.183A>C (p.Pro61=)
c.522A>C (p.Pro174=)
Xg.108573615A>GCA517991623COL4A5c.507A>G (p.Pro169=)
c.183A>G (p.Pro61=)
c.522A>G (p.Pro174=)
Xg.108573615A>TCA517991624COL4A5c.507A>T (p.Pro169=)
c.183A>T (p.Pro61=)
c.522A>T (p.Pro174=)
Xg.108573617delCA2579675876COL4A5c.509del (p.Lys170ArgfsTer?)
c.185del (p.Lys62ArgfsTer?)
c.524del (p.Lys175ArgfsTer?)
Xg.108573616A>CCA413920932COL4A5c.508A>C (p.Lys170Gln)
c.184A>C (p.Lys62Gln)
c.523A>C (p.Lys175Gln)
Xg.108573616A>GCA413920929COL4A5c.508A>G (p.Lys170Glu)
c.184A>G (p.Lys62Glu)
c.523A>G (p.Lys175Glu)
Xg.108573616A>TCA413920928COL4A5c.508A>T (p.Lys170Ter)
c.184A>T (p.Lys62Ter)
c.523A>T (p.Lys175Ter)
Xg.108573617A>CCA413920935COL4A5c.509A>C (p.Lys170Thr)
c.185A>C (p.Lys62Thr)
c.524A>C (p.Lys175Thr)
Xg.108573617A>GCA413920937COL4A5c.509A>G (p.Lys170Arg)
c.185A>G (p.Lys62Arg)
c.524A>G (p.Lys175Arg)
Xg.108573617A>TCA413920939COL4A5c.509A>T (p.Lys170Met)
c.185A>T (p.Lys62Met)
c.524A>T (p.Lys175Met)
Xg.108573618G>ACA517991625COL4A5c.510G>A (p.Lys170=)
c.186G>A (p.Lys62=)
c.525G>A (p.Lys175=)
Xg.108573618G>CCA413920943COL4A5c.510G>C (p.Lys170Asn)
c.186G>C (p.Lys62Asn)
c.525G>C (p.Lys175Asn)
Xg.108573618G>TCA413920945COL4A5c.510G>T (p.Lys170Asn)
c.186G>T (p.Lys62Asn)
c.525G>T (p.Lys175Asn)
Xg.108573619G>ACA413920954COL4A5c.511G>A (p.Gly171Ser)
c.187G>A (p.Gly63Ser)
c.526G>A (p.Gly176Ser)
 ClinVar dbSNP
Xg.108573619G>CCA413920951COL4A5c.511G>C (p.Gly171Arg)
c.187G>C (p.Gly63Arg)
c.526G>C (p.Gly176Arg)
 ClinVar dbSNP gnomAD v4
Xg.108573619G=CA2450680728COL4A5c.511G= (p.Gly171=)
c.187G= (p.Gly63=)
c.526G= (p.Gly176=)
Xg.108573619G>TCA413920949COL4A5c.511G>T (p.Gly171Cys)
c.187G>T (p.Gly63Cys)
c.526G>T (p.Gly176Cys)
 ClinVar
Xg.108573620G>ACA413920956COL4A5c.512G>A (p.Gly171Asp)
c.188G>A (p.Gly63Asp)
c.527G>A (p.Gly176Asp)
Xg.108573620G>CCA413920959COL4A5c.512G>C (p.Gly171Ala)
c.188G>C (p.Gly63Ala)
c.527G>C (p.Gly176Ala)
Xg.108573620G>TCA413920962COL4A5c.512G>T (p.Gly171Val)
c.188G>T (p.Gly63Val)
c.527G>T (p.Gly176Val)
Xg.108573621T>ACA517991628COL4A5c.513T>A (p.Gly171=)
c.189T>A (p.Gly63=)
c.528T>A (p.Gly176=)
Xg.108573621T>CCA517991627COL4A5c.513T>C (p.Gly171=)
c.189T>C (p.Gly63=)
c.528T>C (p.Gly176=)
Xg.108573621T>GCA517991626COL4A5c.513T>G (p.Gly171=)
c.189T>G (p.Gly63=)
c.528T>G (p.Gly176=)
Xg.108573622A>CCA413920963COL4A5c.514A>C (p.Asn172His)
c.190A>C (p.Asn64His)
c.529A>C (p.Asn177His)
Xg.108573622A>GCA413920966COL4A5c.514A>G (p.Asn172Asp)
c.190A>G (p.Asn64Asp)
c.529A>G (p.Asn177Asp)
 gnomAD v4
Xg.108573622A>TCA413920968COL4A5c.514A>T (p.Asn172Tyr)
c.190A>T (p.Asn64Tyr)
c.529A>T (p.Asn177Tyr)
Xg.108573623delCA2580100246COL4A5c.515del (p.Asn172IlefsTer?)
c.191del (p.Asn64IlefsTer?)
c.530del (p.Asn177IlefsTer?)
 ClinVar
Xg.108573623A>CCA413920972COL4A5c.515A>C (p.Asn172Thr)
c.191A>C (p.Asn64Thr)
c.530A>C (p.Asn177Thr)
Xg.108573623A>GCA413920974COL4A5c.515A>G (p.Asn172Ser)
c.191A>G (p.Asn64Ser)
c.530A>G (p.Asn177Ser)
Xg.108573623A>TCA413920973COL4A5c.515A>T (p.Asn172Ile)
c.191A>T (p.Asn64Ile)
c.530A>T (p.Asn177Ile)
Xg.108573623_108573640delCA2531530036COL4A5c.515_532del (p.Asn172_Pro178delinsThr)
c.191_208del (p.Asn64_Pro70delinsThr)
c.530_547del (p.Asn177_Pro183delinsThr)
Xg.108573624T>ACA413920977COL4A5c.516T>A (p.Asn172Lys)
c.192T>A (p.Asn64Lys)
c.531T>A (p.Asn177Lys)
Xg.108573624T>CCA517991629COL4A5c.516T>C (p.Asn172=)
c.192T>C (p.Asn64=)
c.531T>C (p.Asn177=)
Xg.108573624T>GCA413920980COL4A5c.516T>G (p.Asn172Lys)
c.192T>G (p.Asn64Lys)
c.531T>G (p.Asn177Lys)
Xg.108573625C>ACA413920983COL4A5c.517C>A (p.Pro173Thr)
c.193C>A (p.Pro65Thr)
c.532C>A (p.Pro178Thr)
Xg.108573625C>GCA413920984COL4A5c.517C>G (p.Pro173Ala)
c.193C>G (p.Pro65Ala)
c.532C>G (p.Pro178Ala)
Xg.108573625C>TCA413920986COL4A5c.517C>T (p.Pro173Ser)
c.193C>T (p.Pro65Ser)
c.532C>T (p.Pro178Ser)
Xg.108573626C>ACA413920987COL4A5c.518C>A (p.Pro173Gln)
c.194C>A (p.Pro65Gln)
c.533C>A (p.Pro178Gln)
 gnomAD v4
Xg.108573626C>GCA413920990COL4A5c.518C>G (p.Pro173Arg)
c.194C>G (p.Pro65Arg)
c.533C>G (p.Pro178Arg)
Xg.108573626C>TCA413920994COL4A5c.518C>T (p.Pro173Leu)
c.194C>T (p.Pro65Leu)
c.533C>T (p.Pro178Leu)
Xg.108573627A>CCA517991630COL4A5c.519A>C (p.Pro173=)
c.195A>C (p.Pro65=)
c.534A>C (p.Pro178=)
Xg.108573627A>GCA517991632COL4A5c.519A>G (p.Pro173=)
c.195A>G (p.Pro65=)
c.534A>G (p.Pro178=)
Xg.108573627A>TCA517991631COL4A5c.519A>T (p.Pro173=)
c.195A>T (p.Pro65=)
c.534A>T (p.Pro178=)
Xg.108573628G>ACA413920996COL4A5c.520G>A (p.Gly174Arg)
c.196G>A (p.Gly66Arg)
c.535G>A (p.Gly179Arg)
Xg.108573628G>CCA258255COL4A5c.520G>C (p.Gly174Arg)
c.196G>C (p.Gly66Arg)
c.535G>C (p.Gly179Arg)
 dbSNP
Xg.108573628G=CA2450680732COL4A5c.520G= (p.Gly174=)
c.196G= (p.Gly66=)
c.535G= (p.Gly179=)
Xg.108573628G>TCA413921000COL4A5c.520G>T (p.Gly174Ter)
c.196G>T (p.Gly66Ter)
c.535G>T (p.Gly179Ter)
 gnomAD v4
Xg.108573629G>ACA413921009COL4A5c.521G>A (p.Gly174Glu)
c.197G>A (p.Gly66Glu)
c.536G>A (p.Gly179Glu)
 COSMIC
Xg.108573629G>CCA413921006COL4A5c.521G>C (p.Gly174Ala)
c.197G>C (p.Gly66Ala)
c.536G>C (p.Gly179Ala)
Xg.108573629G>TCA413921003COL4A5c.521G>T (p.Gly174Val)
c.197G>T (p.Gly66Val)
c.536G>T (p.Gly179Val)
Xg.108573630A>CCA517991633COL4A5c.522A>C (p.Gly174=)
c.198A>C (p.Gly66=)
c.537A>C (p.Gly179=)
Xg.108573630A>GCA517991634COL4A5c.522A>G (p.Gly174=)
c.198A>G (p.Gly66=)
c.537A>G (p.Gly179=)
Xg.108573630A>TCA517991635COL4A5c.522A>T (p.Gly174=)
c.198A>T (p.Gly66=)
c.537A>T (p.Gly179=)
Xg.108573631T>ACA413921011COL4A5c.523T>A (p.Tyr175Asn)
c.199T>A (p.Tyr67Asn)
c.538T>A (p.Tyr180Asn)
Xg.108573631T>CCA413921015COL4A5c.523T>C (p.Tyr175His)
c.199T>C (p.Tyr67His)
c.538T>C (p.Tyr180His)
Xg.108573631T>GCA413921013COL4A5c.523T>G (p.Tyr175Asp)
c.199T>G (p.Tyr67Asp)
c.538T>G (p.Tyr180Asp)
Xg.108573632A=CA2450680738COL4A5c.524A= (p.Tyr175=)
c.200A= (p.Tyr67=)
c.539A= (p.Tyr180=)
Xg.108573632A>CCA413921018COL4A5c.524A>C (p.Tyr175Ser)
c.200A>C (p.Tyr67Ser)
c.539A>C (p.Tyr180Ser)
 dbSNP gnomAD v4
Xg.108573632A>GCA413921022COL4A5c.524A>G (p.Tyr175Cys)
c.200A>G (p.Tyr67Cys)
c.539A>G (p.Tyr180Cys)
Xg.108573632A>TCA413921020COL4A5c.524A>T (p.Tyr175Phe)
c.200A>T (p.Tyr67Phe)
c.539A>T (p.Tyr180Phe)
Xg.108573633T>ACA413921025COL4A5c.525T>A (p.Tyr175Ter)
c.201T>A (p.Tyr67Ter)
c.540T>A (p.Tyr180Ter)
Xg.108573633T>CCA517991636COL4A5c.525T>C (p.Tyr175=)
c.201T>C (p.Tyr67=)
c.540T>C (p.Tyr180=)
Xg.108573633T>GCA413921027COL4A5c.525T>G (p.Tyr175Ter)
c.201T>G (p.Tyr67Ter)
c.540T>G (p.Tyr180Ter)
Xg.108573636_108573644delCA2694411165COL4A5c.528_536del (p.Gly177_Pro179del)
c.204_212del (p.Gly69_Pro71del)
c.543_551del (p.Gly182_Pro184del)
 gnomAD v4
Xg.108573634C>ACA413921037COL4A5c.526C>A (p.Pro176Thr)
c.202C>A (p.Pro68Thr)
c.541C>A (p.Pro181Thr)
 gnomAD v4
Xg.108573634C=CA2450680742COL4A5c.526C= (p.Pro176=)
c.202C= (p.Pro68=)
c.541C= (p.Pro181=)
Xg.108573634C>GCA413921040COL4A5c.526C>G (p.Pro176Ala)
c.202C>G (p.Pro68Ala)
c.541C>G (p.Pro181Ala)
Xg.108573634C>TCA413921043COL4A5c.526C>T (p.Pro176Ser)
c.202C>T (p.Pro68Ser)
c.541C>T (p.Pro181Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.108573635C>ACA413921044COL4A5c.527C>A (p.Pro176Gln)
c.203C>A (p.Pro68Gln)
c.542C>A (p.Pro181Gln)
 gnomAD v4
Xg.108573635C>GCA413921046COL4A5c.527C>G (p.Pro176Arg)
c.203C>G (p.Pro68Arg)
c.542C>G (p.Pro181Arg)
Xg.108573635C>TCA413921048COL4A5c.527C>T (p.Pro176Leu)
c.203C>T (p.Pro68Leu)
c.542C>T (p.Pro181Leu)
Xg.108573636A=CA2450680746COL4A5c.528A= (p.Pro176=)
c.204A= (p.Pro68=)
c.543A= (p.Pro181=)
Xg.108573636A>CCA517991637COL4A5c.528A>C (p.Pro176=)
c.204A>C (p.Pro68=)
c.543A>C (p.Pro181=)
Xg.108573636A>GCA10488479COL4A5c.528A>G (p.Pro176=)
c.204A>G (p.Pro68=)
c.543A>G (p.Pro181=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573636A>TCA517991638COL4A5c.528A>T (p.Pro176=)
c.204A>T (p.Pro68=)
c.543A>T (p.Pro181=)
Xg.108573637G>ACA413921054COL4A5c.529G>A (p.Gly177Ser)
c.205G>A (p.Gly69Ser)
c.544G>A (p.Gly182Ser)
Xg.108573637G>CCA258259COL4A5c.529G>C (p.Gly177Arg)
c.205G>C (p.Gly69Arg)
c.544G>C (p.Gly182Arg)
 dbSNP
Xg.108573637G=CA2450680747COL4A5c.529G= (p.Gly177=)
c.205G= (p.Gly69=)
c.544G= (p.Gly182=)
Xg.108573637G>TCA258257COL4A5c.529G>T (p.Gly177Cys)
c.205G>T (p.Gly69Cys)
c.544G>T (p.Gly182Cys)
 ClinVar dbSNP
Xg.108573638G>ACA413921068COL4A5c.530G>A (p.Gly177Asp)
c.206G>A (p.Gly69Asp)
c.545G>A (p.Gly182Asp)
 ClinVar dbSNP
Xg.108573638G>CCA413921062COL4A5c.530G>C (p.Gly177Ala)
c.206G>C (p.Gly69Ala)
c.545G>C (p.Gly182Ala)
 ClinVar
Xg.108573638G=CA2450680751COL4A5c.530G= (p.Gly177=)
c.206G= (p.Gly69=)
c.545G= (p.Gly182=)
Xg.108573638G>TCA413921066COL4A5c.530G>T (p.Gly177Val)
c.206G>T (p.Gly69Val)
c.545G>T (p.Gly182Val)
Xg.108573639T>ACA517991639COL4A5c.531T>A (p.Gly177=)
c.207T>A (p.Gly69=)
c.546T>A (p.Gly182=)
Xg.108573639T>CCA517991640COL4A5c.531T>C (p.Gly177=)
c.207T>C (p.Gly69=)
c.546T>C (p.Gly182=)
Xg.108573639T>GCA517991641COL4A5c.531T>G (p.Gly177=)
c.207T>G (p.Gly69=)
c.546T>G (p.Gly182=)
Xg.108573639_108573640delinsTCCA2450680755COL4A5c.531_532delinsTC (p.Gly177=)
c.207_208delinsTC (p.Gly69=)
c.546_547delinsTC (p.Gly182=)
Xg.108573640C>ACA413921071COL4A5c.532C>A (p.Pro178Thr)
c.208C>A (p.Pro70Thr)
c.547C>A (p.Pro183Thr)
 gnomAD v4
Xg.108573640C=CA2450680765COL4A5c.532C= (p.Pro178=)
c.208C= (p.Pro70=)
c.547C= (p.Pro183=)
Xg.108573640C>GCA413921073COL4A5c.532C>G (p.Pro178Ala)
c.208C>G (p.Pro70Ala)
c.547C>G (p.Pro183Ala)
 gnomAD v4
Xg.108573640C>TCA413921076COL4A5c.532C>T (p.Pro178Ser)
c.208C>T (p.Pro70Ser)
c.547C>T (p.Pro183Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108573641delCA258261COL4A5c.533del (p.Pro178LeufsTer25)
c.209del (p.Pro70LeufsTer25)
c.548del (p.Pro183LeufsTer25)
 dbSNP gnomAD v4
Xg.108573641C>ACA413921081COL4A5c.533C>A (p.Pro178His)
c.209C>A (p.Pro70His)
c.548C>A (p.Pro183His)
Xg.108573641C>GCA413921083COL4A5c.533C>G (p.Pro178Arg)
c.209C>G (p.Pro70Arg)
c.548C>G (p.Pro183Arg)
Xg.108573641C>TCA413921086COL4A5c.533C>T (p.Pro178Leu)
c.209C>T (p.Pro70Leu)
c.548C>T (p.Pro183Leu)
 dbSNP
Xg.108573642T>ACA517991642COL4A5c.534T>A (p.Pro178=)
c.210T>A (p.Pro70=)
c.549T>A (p.Pro183=)
Xg.108573642T>CCA517991644COL4A5c.534T>C (p.Pro178=)
c.210T>C (p.Pro70=)
c.549T>C (p.Pro183=)
Xg.108573642T>GCA517991643COL4A5c.534T>G (p.Pro178=)
c.210T>G (p.Pro70=)
c.549T>G (p.Pro183=)
Xg.108573643C>ACA413921087COL4A5c.535C>A (p.Pro179Thr)
c.211C>A (p.Pro71Thr)
c.550C>A (p.Pro184Thr)
 dbSNP
Xg.108573643C=CA2450680768COL4A5c.535C= (p.Pro179=)
c.211C= (p.Pro71=)
c.550C= (p.Pro184=)
Xg.108573643C>GCA10488480COL4A5c.535C>G (p.Pro179Ala)
c.211C>G (p.Pro71Ala)
c.550C>G (p.Pro184Ala)
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.108573643C>TCA413921089COL4A5c.535C>T (p.Pro179Ser)
c.211C>T (p.Pro71Ser)
c.550C>T (p.Pro184Ser)
 gnomAD v4 COSMIC
Xg.108573643_108573644delCA2518470192COL4A5c.535_536del (p.Pro179TrpfsTer?)
c.211_212del (p.Pro71TrpfsTer?)
c.550_551del (p.Pro184TrpfsTer?)
Xg.108573644C>ACA413921096COL4A5c.536C>A (p.Pro179His)
c.212C>A (p.Pro71His)
c.551C>A (p.Pro184His)
 gnomAD v4
Xg.108573644C=CA2450680769COL4A5c.536C= (p.Pro179=)
c.212C= (p.Pro71=)
c.551C= (p.Pro184=)
Xg.108573644C>GCA413921093COL4A5c.536C>G (p.Pro179Arg)
c.212C>G (p.Pro71Arg)
c.551C>G (p.Pro184Arg)
Xg.108573644C>TCA413921091COL4A5c.536C>T (p.Pro179Leu)
c.212C>T (p.Pro71Leu)
c.551C>T (p.Pro184Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.108573645T>ACA517991645COL4A5c.537T>A (p.Pro179=)
c.213T>A (p.Pro71=)
c.552T>A (p.Pro184=)
Xg.108573645T>CCA517991646COL4A5c.537T>C (p.Pro179=)
c.213T>C (p.Pro71=)
c.552T>C (p.Pro184=)
Xg.108573645T>GCA517991647COL4A5c.537T>G (p.Pro179=)
c.213T>G (p.Pro71=)
c.552T>G (p.Pro184=)
Xg.108573646G>ACA258262COL4A5c.538G>A (p.Gly180Arg)
c.214G>A (p.Gly72Arg)
c.553G>A (p.Gly185Arg)
 ClinVar dbSNP
Xg.108573646G>CCA413921103COL4A5c.538G>C (p.Gly180Arg)
c.214G>C (p.Gly72Arg)
c.553G>C (p.Gly185Arg)
Xg.108573646G=CA2450680772COL4A5c.538G= (p.Gly180=)
c.214G= (p.Gly72=)
c.553G= (p.Gly185=)
Xg.108573646G>TCA413921106COL4A5c.538G>T (p.Gly180Ter)
c.214G>T (p.Gly72Ter)
c.553G>T (p.Gly185Ter)
Xg.108573646_108573647insACA2554550267COL4A5c.538_539insA (p.Gly180GlufsTer?)
c.214_215insA (p.Gly72GlufsTer?)
c.553_554insA (p.Gly185GlufsTer?)
Xg.108573647G>ACA413921110COL4A5c.539G>A (p.Gly180Glu)
c.215G>A (p.Gly72Glu)
c.554G>A (p.Gly185Glu)
 ClinVar dbSNP gnomAD v4
Xg.108573647G>CCA413921112COL4A5c.539G>C (p.Gly180Ala)
c.215G>C (p.Gly72Ala)
c.554G>C (p.Gly185Ala)
Xg.108573647G>TCA413921114COL4A5c.539G>T (p.Gly180Val)
c.215G>T (p.Gly72Val)
c.554G>T (p.Gly185Val)
Xg.108573648A>CCA517991650COL4A5c.540A>C (p.Gly180=)
c.216A>C (p.Gly72=)
c.555A>C (p.Gly185=)
Xg.108573648A>GCA517991648COL4A5c.540A>G (p.Gly180=)
c.216A>G (p.Gly72=)
c.555A>G (p.Gly185=)
 gnomAD v4
Xg.108573648A>TCA517991649COL4A5c.540A>T (p.Gly180=)
c.216A>T (p.Gly72=)
c.555A>T (p.Gly185=)
Xg.108573649A>CCA413921119COL4A5c.541A>C (p.Ile181Leu)
c.217A>C (p.Ile73Leu)
c.556A>C (p.Ile186Leu)
Xg.108573649A>GCA413921122COL4A5c.541A>G (p.Ile181Val)
c.217A>G (p.Ile73Val)
c.556A>G (p.Ile186Val)
Xg.108573649A>TCA413921124COL4A5c.541A>T (p.Ile181Leu)
c.217A>T (p.Ile73Leu)
c.556A>T (p.Ile186Leu)
Xg.108573649_108573650insCCA2545068648COL4A5c.541_542insC (p.Ile181ThrfsTer?)
c.217_218insC (p.Ile73ThrfsTer?)
c.556_557insC (p.Ile186ThrfsTer?)
Xg.108573650T>ACA413921126COL4A5c.542T>A (p.Ile181Lys)
c.218T>A (p.Ile73Lys)
c.557T>A (p.Ile186Lys)
Xg.108573650T>CCA413921129COL4A5c.542T>C (p.Ile181Thr)
c.218T>C (p.Ile73Thr)
c.557T>C (p.Ile186Thr)
Xg.108573650T>GCA413921131COL4A5c.542T>G (p.Ile181Arg)
c.218T>G (p.Ile73Arg)
c.557T>G (p.Ile186Arg)
Xg.108573650_108573657delinsTACAAGTACA2450680774COL4A5c.542_546+3delinsTACAAGTA
c.218_222+3delinsTACAAGTA
c.557_561+3delinsTACAAGTA
Xg.108573651A>CCA517991651COL4A5c.543A>C (p.Ile181=)
c.219A>C (p.Ile73=)
c.558A>C (p.Ile186=)
Xg.108573651A>GCA413921133COL4A5c.543A>G (p.Ile181Met)
c.219A>G (p.Ile73Met)
c.558A>G (p.Ile186Met)
 gnomAD v4
Xg.108573651A>TCA517991652COL4A5c.543A>T (p.Ile181=)
c.219A>T (p.Ile73=)
c.558A>T (p.Ile186=)
Xg.108573652_108573658delCA891843908COL4A5c.544_546+4del
c.220_222+4del
c.559_561+4del
Xg.108573652C>ACA413921142COL4A5c.544C>A (p.Gln182Lys)
c.220C>A (p.Gln74Lys)
c.559C>A (p.Gln187Lys)
 gnomAD v4
Xg.108573652C=CA2450680775COL4A5c.544C= (p.Gln182=)
c.220C= (p.Gln74=)
c.559C= (p.Gln187=)
Xg.108573652C>GCA413921137COL4A5c.544C>G (p.Gln182Glu)
c.220C>G (p.Gln74Glu)
c.559C>G (p.Gln187Glu)
Xg.108573652C>TCA413921140COL4A5c.544C>T (p.Gln182Ter)
c.220C>T (p.Gln74Ter)
c.559C>T (p.Gln187Ter)
 gnomAD v4
Xg.108573652_108573656delinsCAAGTCA2450680776COL4A5c.544_546+2delinsCAAGT
c.220_222+2delinsCAAGT
c.559_561+2delinsCAAGT
Xg.108573652_108573659delCA2526418618COL4A5c.544_546+5del
c.220_222+5del
c.559_561+5del
Xg.108573653A=CA2450680777COL4A5c.545A= (p.Gln182=)
c.221A= (p.Gln74=)
c.560A= (p.Gln187=)
Xg.108573653A>CCA413921145COL4A5c.545A>C (p.Gln182Pro)
c.221A>C (p.Gln74Pro)
c.560A>C (p.Gln187Pro)
Xg.108573653A>GCA413921147COL4A5c.545A>G (p.Gln182Arg)
c.221A>G (p.Gln74Arg)
c.560A>G (p.Gln187Arg)
Xg.108573653A>TCA10488481COL4A5c.545A>T (p.Gln182Leu)
c.221A>T (p.Gln74Leu)
c.560A>T (p.Gln187Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573654delCA2739290559COL4A5c.546del (p.Gly183AlafsTer20)
c.222del (p.Gly75AlafsTer20)
c.561del (p.Gly188AlafsTer20)
Xg.108573658_108573661delCA658823829COL4A5c.546+4_546+7del
c.222+4_222+7del
c.561+4_561+7del
 ClinVar dbSNP
Xg.108573654A=CA2450680778COL4A5c.546A= (p.Gln182=)
c.222A= (p.Gln74=)
c.561A= (p.Gln187=)
Xg.108573654A>CCA413921152COL4A5c.546A>C (p.Gln182His)
c.222A>C (p.Gln74His)
c.561A>C (p.Gln187His)
Xg.108573654A>GCA517991653COL4A5c.546A>G (p.Gln182=)
c.222A>G (p.Gln74=)
c.561A>G (p.Gln187=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108573654A>TCA413921154COL4A5c.546A>T (p.Gln182His)
c.222A>T (p.Gln74His)
c.561A>T (p.Gln187His)
Xg.108573655G>ACA258265COL4A5c.546+1G>A (n.546+1G>A)
c.222+1G>A (n.222+1G>A)
c.561+1G>A (n.561+1G>A)
 ClinVar dbSNP gnomAD v4
Xg.108573655G>CCA413921157COL4A5c.546+1G>C (n.546+1G>C)
c.222+1G>C (n.222+1G>C)
c.561+1G>C (n.561+1G>C)
Xg.108573655G=CA2450680779COL4A5c.546+1G= (n.546+1G=)
c.222+1G= (n.222+1G=)
c.561+1G= (n.561+1G=)
Xg.108573655G>TCA413921160COL4A5c.546+1G>T (n.546+1G>T)
c.222+1G>T (n.222+1G>T)
c.561+1G>T (n.561+1G>T)
Xg.108573656T>ACA413921163COL4A5c.546+2T>A (n.546+2T>A)
c.222+2T>A (n.222+2T>A)
c.561+2T>A (n.561+2T>A)
Xg.108573656T>CCA413921165COL4A5c.546+2T>C (n.546+2T>C)
c.222+2T>C (n.222+2T>C)
c.561+2T>C (n.561+2T>C)
Xg.108573656T>GCA413921167COL4A5c.546+2T>G (n.546+2T>G)
c.222+2T>G (n.222+2T>G)
c.561+2T>G (n.561+2T>G)
 ClinVar dbSNP
Xg.108573656T=CA2450680781COL4A5c.546+2T= (n.546+2T=)
c.222+2T= (n.222+2T=)
c.561+2T= (n.561+2T=)
Xg.108573656dupCA658823830COL4A5c.546+2dup (n.546+2dup)
c.222+2dup (n.222+2dup)
c.561+2dup (n.561+2dup)
 ClinVar dbSNP
Xg.108573656_108573657delinsTACA2450680780COL4A5c.546+2_546+3delinsTA (n.546+2_546+3delinsTA)
c.222+2_222+3delinsTA (n.222+2_222+3delinsTA)
c.561+2_561+3delinsTA (n.561+2_561+3delinsTA)
Xg.108573657A=CA2450680782COL4A5c.546+3A= (n.546+3A=)
c.222+3A= (n.222+3A=)
c.561+3A= (n.561+3A=)
Xg.108573657A>GCA2694411172COL4A5c.546+3A>G (n.546+3A>G)
c.222+3A>G (n.222+3A>G)
c.561+3A>G (n.561+3A>G)
 gnomAD v4
Xg.108573658delCA2450680783COL4A5c.546+4del (n.546+4del)
c.222+4del (n.222+4del)
c.561+4del (n.561+4del)
 ClinVar dbSNP
Xg.108573657_108573658insTCA258266COL4A5c.546+3_546+4insT (n.546+3_546+4insT)
c.222+3_222+4insT (n.222+3_222+4insT)
c.561+3_561+4insT (n.561+3_561+4insT)
 dbSNP
Xg.108573658A>GCA2579675877COL4A5c.546+4A>G (n.546+4A>G)
c.222+4A>G (n.222+4A>G)
c.561+4A>G (n.561+4A>G)
 ClinVar gnomAD v4
Xg.108573659G>CCA2695235180COL4A5c.546+5G>C (n.546+5G>C)
c.222+5G>C (n.222+5G>C)
c.561+5G>C (n.561+5G>C)
Xg.108573659G>TCA915940910COL4A5c.546+5G>T (n.546+5G>T)
c.222+5G>T (n.222+5G>T)
c.561+5G>T (n.561+5G>T)
Xg.108573660T>ACA2573159175COL4A5c.546+6T>A (n.546+6T>A)
c.222+6T>A (n.222+6T>A)
c.561+6T>A (n.561+6T>A)
 ClinVar dbSNP
Xg.108573660T>CCA2694411176COL4A5c.546+6T>C (n.546+6T>C)
c.222+6T>C (n.222+6T>C)
c.561+6T>C (n.561+6T>C)
 gnomAD v4
Xg.108573661A>GCA2694411178COL4A5c.546+7A>G (n.546+7A>G)
c.222+7A>G (n.222+7A>G)
c.561+7A>G (n.561+7A>G)
 gnomAD v4
Xg.108573662T>CCA2694411179COL4A5c.546+8T>C (n.546+8T>C)
c.222+8T>C (n.222+8T>C)
c.561+8T>C (n.561+8T>C)
 gnomAD v4
Xg.108573663C>ACA10488482COL4A5c.546+9C>A (n.546+9C>A)
c.222+9C>A (n.222+9C>A)
c.561+9C>A (n.561+9C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573663C=CA2450680784COL4A5c.546+9C= (n.546+9C=)
c.222+9C= (n.222+9C=)
c.561+9C= (n.561+9C=)
Xg.108573663C>TCA2694411186COL4A5c.546+9C>T (n.546+9C>T)
c.222+9C>T (n.222+9C>T)
c.561+9C>T (n.561+9C>T)
 gnomAD v4
Xg.108573664delCA2694411182COL4A5c.546+10del (n.546+10del)
c.222+10del (n.222+10del)
c.561+10del (n.561+10del)
 gnomAD v4
Xg.108573664C>TCA2694411190COL4A5c.546+10C>T (n.546+10C>T)
c.222+10C>T (n.222+10C>T)
c.561+10C>T (n.561+10C>T)
 gnomAD v4
Xg.108573665A=CA2450680785COL4A5c.546+11A= (n.546+11A=)
c.222+11A= (n.222+11A=)
c.561+11A= (n.561+11A=)
Xg.108573665A>GCA869820158COL4A5c.546+11A>G (n.546+11A>G)
c.222+11A>G (n.222+11A>G)
c.561+11A>G (n.561+11A>G)
 dbSNP gnomAD v4
Xg.108573666G>ACA2694411191COL4A5c.546+12G>A (n.546+12G>A)
c.222+12G>A (n.222+12G>A)
c.561+12G>A (n.561+12G>A)
 gnomAD v4
Xg.108573669A=CA2450680786COL4A5c.546+15A= (n.546+15A=)
c.222+15A= (n.222+15A=)
c.561+15A= (n.561+15A=)
Xg.108573669A>GCA2822894009COL4A5c.546+15A>G (n.546+15A>G)
c.222+15A>G (n.222+15A>G)
c.561+15A>G (n.561+15A>G)
Xg.108573669A>TCA10488483COL4A5c.546+15A>T (n.546+15A>T)
c.222+15A>T (n.222+15A>T)
c.561+15A>T (n.561+15A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573671_108573672insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCACA2694411199COL4A5c.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA (n.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA)
c.222+17_222+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA (n.222+17_222+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA)
c.561+17_561+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA (n.561+17_561+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA)
 gnomAD v4
Xg.108573672T>CCA2694411198COL4A5c.546+18T>C (n.546+18T>C)
c.222+18T>C (n.222+18T>C)
c.561+18T>C (n.561+18T>C)
 gnomAD v4
Xg.108573672T>GCA10488484COL4A5c.546+18T>G (n.546+18T>G)
c.222+18T>G (n.222+18T>G)
c.561+18T>G (n.561+18T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108573672T=CA2450680787COL4A5c.546+18T= (n.546+18T=)
c.222+18T= (n.222+18T=)
c.561+18T= (n.561+18T=)
Xg.108573673T>CCA2694411202COL4A5c.546+19T>C (n.546+19T>C)
c.222+19T>C (n.222+19T>C)
c.561+19T>C (n.561+19T>C)
 gnomAD v4
Xg.108573674C>ACA2694411203COL4A5c.546+20C>A (n.546+20C>A)
c.222+20C>A (n.222+20C>A)
c.561+20C>A (n.561+20C>A)
 gnomAD v4
Xg.108573675T>ACA2694411207COL4A5c.546+21T>A (n.546+21T>A)
c.222+21T>A (n.222+21T>A)
c.561+21T>A (n.561+21T>A)
 gnomAD v4
Xg.108573675T>CCA643749611COL4A5c.546+21T>C (n.546+21T>C)
c.222+21T>C (n.222+21T>C)
c.561+21T>C (n.561+21T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108573675T=CA2450680788COL4A5c.546+21T= (n.546+21T=)
c.222+21T= (n.222+21T=)
c.561+21T= (n.561+21T=)
Xg.108573681dupCA2694411205COL4A5c.546+27dup (n.546+27dup)
c.222+27dup (n.222+27dup)
c.561+27dup (n.561+27dup)
 gnomAD v4
Xg.108573680_108573681dupCA2822894013COL4A5c.546+26_546+27dup (n.546+26_546+27dup)
c.222+26_222+27dup (n.222+26_222+27dup)
c.561+26_561+27dup (n.561+26_561+27dup)
Xg.108573681delCA2694411206COL4A5c.546+27del (n.546+27del)
c.222+27del (n.222+27del)
c.561+27del (n.561+27del)
 gnomAD v4
Xg.108573676T>CCA2694411213COL4A5c.546+22T>C (n.546+22T>C)
c.222+22T>C (n.222+22T>C)
c.561+22T>C (n.561+22T>C)
 gnomAD v4
Xg.108573677T>CCA10488485COL4A5c.546+23T>C (n.546+23T>C)
c.222+23T>C (n.222+23T>C)
c.561+23T>C (n.561+23T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108573677T=CA2450680789COL4A5c.546+23T= (n.546+23T=)
c.222+23T= (n.222+23T=)
c.561+23T= (n.561+23T=)
Xg.108573681T>CCA2694411216COL4A5c.546+27T>C (n.546+27T>C)
c.222+27T>C (n.222+27T>C)
c.561+27T>C (n.561+27T>C)
 gnomAD v4
Xg.108573682delCA2694411217COL4A5c.546+28del (n.546+28del)
c.222+28del (n.222+28del)
c.561+28del (n.561+28del)
 gnomAD v4

Number of alleles fetched