Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.110174394delCA2623673441COL4A1c.3406+55del (n.3406+55del)
c.3214+55del (n.3214+55del)
 gnomAD v4
13g.110174392C=CA2118737463COL4A1c.3406+54G= (n.3406+54G=)
c.3214+54G= (n.3214+54G=)
13g.110174392C>TCA695035505COL4A1c.3406+54G>A (n.3406+54G>A)
c.3214+54G>A (n.3214+54G>A)
 dbSNP gnomAD v3 gnomAD v4
13g.110174394C>ACA2623673445COL4A1c.3406+52G>T (n.3406+52G>T)
c.3214+52G>T (n.3214+52G>T)
 gnomAD v4
13g.110174396G=CA2118737466COL4A1c.3406+50C= (n.3406+50C=)
c.3214+50C= (n.3214+50C=)
13g.110174396G>TCA256253654COL4A1c.3406+50C>A (n.3406+50C>A)
c.3214+50C>A (n.3214+50C>A)
 dbSNP gnomAD v3 gnomAD v4
13g.110174397G>ACA7047273COL4A1c.3406+49C>T (n.3406+49C>T)
c.3214+49C>T (n.3214+49C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110174397G=CA2118737470COL4A1c.3406+49C= (n.3406+49C=)
c.3214+49C= (n.3214+49C=)
13g.110174398C>ACA2800581141COL4A1c.3406+48G>T (n.3406+48G>T)
c.3214+48G>T (n.3214+48G>T)
13g.110174399C=CA2118737472COL4A1c.3406+47G= (n.3406+47G=)
c.3214+47G= (n.3214+47G=)
13g.110174399C>TCA612866295COL4A1c.3406+47G>A (n.3406+47G>A)
c.3214+47G>A (n.3214+47G>A)
 dbSNP gnomAD v2 gnomAD v4
13g.110174401C=CA2118737478COL4A1c.3406+45G= (n.3406+45G=)
c.3214+45G= (n.3214+45G=)
13g.110174401C>TCA2118737477COL4A1c.3406+45G>A (n.3406+45G>A)
c.3214+45G>A (n.3214+45G>A)
 dbSNP gnomAD v4
13g.110174401_110174402delinsCTCA2118737474COL4A1c.3406+44_3406+45delinsAG (n.3406+44_3406+45delinsAG)
c.3214+44_3214+45delinsAG (n.3214+44_3214+45delinsAG)
13g.110174402delCA960161740COL4A1c.3406+44del (n.3406+44del)
c.3214+44del (n.3214+44del)
 dbSNP gnomAD v3 gnomAD v4
13g.110174403G>ACA2623673446COL4A1c.3406+43C>T (n.3406+43C>T)
c.3214+43C>T (n.3214+43C>T)
 gnomAD v4
13g.110174403G>CCA7047274COL4A1c.3406+43C>G (n.3406+43C>G)
c.3214+43C>G (n.3214+43C>G)
 dbSNP ExAC
13g.110174403G=CA2118737482COL4A1c.3406+43C= (n.3406+43C=)
c.3214+43C= (n.3214+43C=)
13g.110174404T>GCA2623673447COL4A1c.3406+42A>C (n.3406+42A>C)
c.3214+42A>C (n.3214+42A>C)
 gnomAD v4
13g.110174408C>TCA2623673448COL4A1c.3406+38G>A (n.3406+38G>A)
c.3214+38G>A (n.3214+38G>A)
 gnomAD v4
13g.110174410A=CA2118737487COL4A1c.3406+36T= (n.3406+36T=)
c.3214+36T= (n.3214+36T=)
13g.110174410A>GCA960161744COL4A1c.3406+36T>C (n.3406+36T>C)
c.3214+36T>C (n.3214+36T>C)
 dbSNP gnomAD v3 gnomAD v4
13g.110174410A>TCA2623673449COL4A1c.3406+36T>A (n.3406+36T>A)
c.3214+36T>A (n.3214+36T>A)
 gnomAD v4
13g.110174412G>TCA2623673450COL4A1c.3406+34C>A (n.3406+34C>A)
c.3214+34C>A (n.3214+34C>A)
 gnomAD v4
13g.110174414G>CCA2623673451COL4A1c.3406+32C>G (n.3406+32C>G)
c.3214+32C>G (n.3214+32C>G)
 gnomAD v4
13g.110174414G>TCA2623673452COL4A1c.3406+32C>A (n.3406+32C>A)
c.3214+32C>A (n.3214+32C>A)
 gnomAD v4
13g.110174415C>ACA7047275COL4A1c.3406+31G>T (n.3406+31G>T)
c.3214+31G>T (n.3214+31G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.110174415C=CA2118737488COL4A1c.3406+31G= (n.3406+31G=)
c.3214+31G= (n.3214+31G=)
13g.110174415C>TCA2623673454COL4A1c.3406+31G>A (n.3406+31G>A)
c.3214+31G>A (n.3214+31G>A)
 gnomAD v4
13g.110174417delCA2623673453COL4A1c.3406+31del (n.3406+31del)
c.3214+31del (n.3214+31del)
 gnomAD v4
13g.110174417C>ACA2623673455COL4A1c.3406+29G>T (n.3406+29G>T)
c.3214+29G>T (n.3214+29G>T)
 gnomAD v4
13g.110174417C=CA2118737491COL4A1c.3406+29G= (n.3406+29G=)
c.3214+29G= (n.3214+29G=)
13g.110174417C>GCA960161747COL4A1c.3406+29G>C (n.3406+29G>C)
c.3214+29G>C (n.3214+29G>C)
 dbSNP gnomAD v4
13g.110174417C>TCA7047276COL4A1c.3406+29G>A (n.3406+29G>A)
c.3214+29G>A (n.3214+29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110174418G>ACA7047277COL4A1c.3406+28C>T (n.3406+28C>T)
c.3214+28C>T (n.3214+28C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110174418G=CA2118737496COL4A1c.3406+28C= (n.3406+28C=)
c.3214+28C= (n.3214+28C=)
13g.110174419G>ACA612866296COL4A1c.3406+27C>T (n.3406+27C>T)
c.3214+27C>T (n.3214+27C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.110174419G>CCA2623673457COL4A1c.3406+27C>G (n.3406+27C>G)
c.3214+27C>G (n.3214+27C>G)
 gnomAD v4
13g.110174419G=CA2118737498COL4A1c.3406+27C= (n.3406+27C=)
c.3214+27C= (n.3214+27C=)
13g.110174419G>TCA2623673456COL4A1c.3406+27C>A (n.3406+27C>A)
c.3214+27C>A (n.3214+27C>A)
 gnomAD v4
13g.110174420G>ACA612866297COL4A1c.3406+26C>T (n.3406+26C>T)
c.3214+26C>T (n.3214+26C>T)
 dbSNP gnomAD v2 gnomAD v4
13g.110174420G=CA2118737500COL4A1c.3406+26C= (n.3406+26C=)
c.3214+26C= (n.3214+26C=)
13g.110174420G>TCA2118737501COL4A1c.3406+26C>A (n.3406+26C>A)
c.3214+26C>A (n.3214+26C>A)
 dbSNP gnomAD v4
13g.110174421C>TCA2575453878COL4A1c.3406+25G>A (n.3406+25G>A)
c.3214+25G>A (n.3214+25G>A)
13g.110174423G>ACA612866298COL4A1c.3406+23C>T (n.3406+23C>T)
c.3214+23C>T (n.3214+23C>T)
 dbSNP gnomAD v2
13g.110174423G=CA2118737502COL4A1c.3406+23C= (n.3406+23C=)
c.3214+23C= (n.3214+23C=)
13g.110174426T>ACA695035547COL4A1c.3406+20A>T (n.3406+20A>T)
c.3214+20A>T (n.3214+20A>T)
 dbSNP gnomAD v3 gnomAD v4
13g.110174426T>CCA2623673458COL4A1c.3406+20A>G (n.3406+20A>G)
c.3214+20A>G (n.3214+20A>G)
 gnomAD v4
13g.110174426T=CA2118737503COL4A1c.3406+20A= (n.3406+20A=)
c.3214+20A= (n.3214+20A=)
13g.110174428C=CA2118737504COL4A1c.3406+18G= (n.3406+18G=)
c.3214+18G= (n.3214+18G=)
13g.110174428C>TCA655772724COL4A1c.3406+18G>A (n.3406+18G>A)
c.3214+18G>A (n.3214+18G>A)
 dbSNP gnomAD v4 COSMIC
13g.110174429C=CA2118737506COL4A1c.3406+17G= (n.3406+17G=)
c.3214+17G= (n.3214+17G=)
13g.110174429C>TCA612866299COL4A1c.3406+17G>A (n.3406+17G>A)
c.3214+17G>A (n.3214+17G>A)
 dbSNP gnomAD v2 gnomAD v4
13g.110174430A=CA2118737509COL4A1c.3406+16T= (n.3406+16T=)
c.3214+16T= (n.3214+16T=)
13g.110174430A>GCA612866300COL4A1c.3406+16T>C (n.3406+16T>C)
c.3214+16T>C (n.3214+16T>C)
 dbSNP gnomAD v2 gnomAD v4
13g.110174432A>GCA2623673459COL4A1c.3406+14T>C (n.3406+14T>C)
c.3214+14T>C (n.3214+14T>C)
 gnomAD v4
13g.110174435G>CCA612866301COL4A1c.3406+11C>G (n.3406+11C>G)
c.3214+11C>G (n.3214+11C>G)
 dbSNP gnomAD v2 gnomAD v4
13g.110174435G=CA2118737511COL4A1c.3406+11C= (n.3406+11C=)
c.3214+11C= (n.3214+11C=)
13g.110174437delCA2623673460COL4A1c.3406+11del (n.3406+11del)
c.3214+11del (n.3214+11del)
 gnomAD v4
13g.110174436G>ACA7047278COL4A1c.3406+10C>T (n.3406+10C>T)
c.3214+10C>T (n.3214+10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110174436G=CA2118737513COL4A1c.3406+10C= (n.3406+10C=)
c.3214+10C= (n.3214+10C=)
13g.110174437G>ACA2623673461COL4A1c.3406+9C>T (n.3406+9C>T)
c.3214+9C>T (n.3214+9C>T)
 ClinVar gnomAD v4
13g.110174438C>ACA2554757366COL4A1c.3406+8G>T (n.3406+8G>T)
c.3214+8G>T (n.3214+8G>T)
 gnomAD v4
13g.110174438C>TCA2697551931COL4A1c.3406+8G>A (n.3406+8G>A)
c.3214+8G>A (n.3214+8G>A)
 ClinVar
13g.110174439C=CA2118737516COL4A1c.3406+7G= (n.3406+7G=)
c.3214+7G= (n.3214+7G=)
13g.110174439C>GCA2118737517COL4A1c.3406+7G>C (n.3406+7G>C)
c.3214+7G>C (n.3214+7G>C)
 dbSNP gnomAD v4
13g.110174440C>GCA2623673462COL4A1c.3406+6G>C (n.3406+6G>C)
c.3214+6G>C (n.3214+6G>C)
 gnomAD v4
13g.110174441T>CCA2575453879COL4A1c.3406+5A>G (n.3406+5A>G)
c.3214+5A>G (n.3214+5A>G)
13g.110174442C>ACA2500223895COL4A1c.3406+4G>T (n.3406+4G>T)
c.3214+4G>T (n.3214+4G>T)
13g.110174444A>CCA388664310COL4A1c.3406+2T>G (n.3406+2T>G)
c.3214+2T>G (n.3214+2T>G)
13g.110174444A>GCA388664311COL4A1c.3406+2T>C (n.3406+2T>C)
c.3214+2T>C (n.3214+2T>C)
13g.110174444A>TCA388664312COL4A1c.3406+2T>A (n.3406+2T>A)
c.3214+2T>A (n.3214+2T>A)
13g.110174445C>ACA388664313COL4A1c.3406+1G>T (n.3406+1G>T)
c.3214+1G>T (n.3214+1G>T)
13g.110174445C>GCA388664314COL4A1c.3406+1G>C (n.3406+1G>C)
c.3214+1G>C (n.3214+1G>C)
13g.110174445C>TCA388664315COL4A1c.3406+1G>A (n.3406+1G>A)
c.3214+1G>A (n.3214+1G>A)
13g.110174446C>ACA388664318COL4A1c.3406G>T (p.Gly1136Cys)
c.3214G>T (p.Gly1072Cys)
 ClinVar
13g.110174446C=CA2118737519COL4A1c.3406G= (p.Gly1136=)
c.3214G= (p.Gly1072=)
13g.110174446C>GCA388664317COL4A1c.3406G>C (p.Gly1136Arg)
c.3214G>C (p.Gly1072Arg)
13g.110174446C>TCA388664316COL4A1c.3406G>A (p.Gly1136Ser)
c.3214G>A (p.Gly1072Ser)
 ClinVar dbSNP gnomAD v4
13g.110174447T>ACA484789266COL4A1c.3405A>T (p.Ala1135=)
c.3213A>T (p.Ala1071=)
13g.110174447T>CCA484789265COL4A1c.3405A>G (p.Ala1135=)
c.3213A>G (p.Ala1071=)
13g.110174447T>GCA484789264COL4A1c.3405A>C (p.Ala1135=)
c.3213A>C (p.Ala1071=)
13g.110174448G>ACA388664319COL4A1c.3404C>T (p.Ala1135Val)
c.3212C>T (p.Ala1071Val)
 COSMIC COSMIC
13g.110174448G>CCA388664321COL4A1c.3404C>G (p.Ala1135Gly)
c.3212C>G (p.Ala1071Gly)
 gnomAD v4
13g.110174448G>TCA388664320COL4A1c.3404C>A (p.Ala1135Glu)
c.3212C>A (p.Ala1071Glu)
13g.110174449C>ACA388664322COL4A1c.3403G>T (p.Ala1135Ser)
c.3211G>T (p.Ala1071Ser)
13g.110174449C>GCA388664323COL4A1c.3403G>C (p.Ala1135Pro)
c.3211G>C (p.Ala1071Pro)
13g.110174449C>TCA388664324COL4A1c.3403G>A (p.Ala1135Thr)
c.3211G>A (p.Ala1071Thr)
 gnomAD v4
13g.110174450T>ACA388664325COL4A1c.3402A>T (p.Glu1134Asp)
c.3210A>T (p.Glu1070Asp)
13g.110174450T>CCA484789268COL4A1c.3402A>G (p.Glu1134=)
c.3210A>G (p.Glu1070=)
13g.110174450T>GCA388664326COL4A1c.3402A>C (p.Glu1134Asp)
c.3210A>C (p.Glu1070Asp)
13g.110174451T>ACA388664327COL4A1c.3401A>T (p.Glu1134Val)
c.3209A>T (p.Glu1070Val)
 ClinVar dbSNP gnomAD v4
13g.110174451T>CCA7047279COL4A1c.3401A>G (p.Glu1134Gly)
c.3209A>G (p.Glu1070Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.110174451T>GCA388664328COL4A1c.3401A>C (p.Glu1134Ala)
c.3209A>C (p.Glu1070Ala)
13g.110174451T=CA2118737523COL4A1c.3401A= (p.Glu1134=)
c.3209A= (p.Glu1070=)
13g.110174452C>ACA388664329COL4A1c.3400G>T (p.Glu1134Ter)
c.3208G>T (p.Glu1070Ter)
13g.110174452C>GCA388664330COL4A1c.3400G>C (p.Glu1134Gln)
c.3208G>C (p.Glu1070Gln)
13g.110174452C>TCA388664331COL4A1c.3400G>A (p.Glu1134Lys)
c.3208G>A (p.Glu1070Lys)
13g.110174453T>ACA484789270COL4A1c.3399A>T (p.Gly1133=)
c.3207A>T (p.Gly1069=)
13g.110174453T>CCA484789271COL4A1c.3399A>G (p.Gly1133=)
c.3207A>G (p.Gly1069=)
13g.110174453T>GCA484789272COL4A1c.3399A>C (p.Gly1133=)
c.3207A>C (p.Gly1069=)
13g.110174454C>ACA388664334COL4A1c.3398G>T (p.Gly1133Val)
c.3206G>T (p.Gly1069Val)
13g.110174454C>GCA388664332COL4A1c.3398G>C (p.Gly1133Ala)
c.3206G>C (p.Gly1069Ala)
13g.110174454C>TCA388664333COL4A1c.3398G>A (p.Gly1133Glu)
c.3206G>A (p.Gly1069Glu)
 COSMIC COSMIC
13g.110174455C>ACA388664335COL4A1c.3397G>T (p.Gly1133Ter)
c.3205G>T (p.Gly1069Ter)
13g.110174455C>GCA388664336COL4A1c.3397G>C (p.Gly1133Arg)
c.3205G>C (p.Gly1069Arg)
13g.110174455C>TCA388664337COL4A1c.3397G>A (p.Gly1133Arg)
c.3205G>A (p.Gly1069Arg)
 ClinVar
13g.110174456T>ACA388664338COL4A1c.3396A>T (p.Lys1132Asn)
c.3204A>T (p.Lys1068Asn)
13g.110174456T>CCA484789276COL4A1c.3396A>G (p.Lys1132=)
c.3204A>G (p.Lys1068=)
 gnomAD v4
13g.110174456T>GCA388664339COL4A1c.3396A>C (p.Lys1132Asn)
c.3204A>C (p.Lys1068Asn)
13g.110174457T>ACA388664340COL4A1c.3395A>T (p.Lys1132Ile)
c.3203A>T (p.Lys1068Ile)
13g.110174457T>CCA388664341COL4A1c.3395A>G (p.Lys1132Arg)
c.3203A>G (p.Lys1068Arg)
 ClinVar gnomAD v4
13g.110174457T>GCA388664342COL4A1c.3395A>C (p.Lys1132Thr)
c.3203A>C (p.Lys1068Thr)
13g.110174458T>ACA388664343COL4A1c.3394A>T (p.Lys1132Ter)
c.3202A>T (p.Lys1068Ter)
 gnomAD v4
13g.110174458T>CCA388664344COL4A1c.3394A>G (p.Lys1132Glu)
c.3202A>G (p.Lys1068Glu)
13g.110174458T>GCA388664345COL4A1c.3394A>C (p.Lys1132Gln)
c.3202A>C (p.Lys1068Gln)
13g.110174459G>ACA484789279COL4A1c.3393C>T (p.Val1131=)
c.3201C>T (p.Val1067=)
 dbSNP gnomAD v3 gnomAD v4
13g.110174459G>CCA484789280COL4A1c.3393C>G (p.Val1131=)
c.3201C>G (p.Val1067=)
13g.110174459G=CA2118737526COL4A1c.3393C= (p.Val1131=)
c.3201C= (p.Val1067=)
13g.110174459G>TCA484789281COL4A1c.3393C>A (p.Val1131=)
c.3201C>A (p.Val1067=)
13g.110174460A=CA2118737529COL4A1c.3392T= (p.Val1131=)
c.3200T= (p.Val1067=)
13g.110174460A>CCA388664347COL4A1c.3392T>G (p.Val1131Gly)
c.3200T>G (p.Val1067Gly)
13g.110174460A>GCA7047280COL4A1c.3392T>C (p.Val1131Ala)
c.3200T>C (p.Val1067Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.110174460A>TCA388664346COL4A1c.3392T>A (p.Val1131Asp)
c.3200T>A (p.Val1067Asp)
13g.110174461C>ACA388664348COL4A1c.3391G>T (p.Val1131Phe)
c.3199G>T (p.Val1067Phe)
13g.110174461C=CA2118737532COL4A1c.3391G= (p.Val1131=)
c.3199G= (p.Val1067=)
13g.110174461C>GCA388664349COL4A1c.3391G>C (p.Val1131Leu)
c.3199G>C (p.Val1067Leu)
13g.110174461C>TCA7047281COL4A1c.3391G>A (p.Val1131Ile)
c.3199G>A (p.Val1067Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.110174462A=CA2118737534COL4A1c.3390T= (p.Gly1130=)
c.3198T= (p.Gly1066=)
13g.110174462A>CCA484789284COL4A1c.3390T>G (p.Gly1130=)
c.3198T>G (p.Gly1066=)
13g.110174462A>GCA484789285COL4A1c.3390T>C (p.Gly1130=)
c.3198T>C (p.Gly1066=)
 gnomAD v4
13g.110174462A>TCA484789286COL4A1c.3390T>A (p.Gly1130=)
c.3198T>A (p.Gly1066=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.110174463C>ACA388664350COL4A1c.3389G>T (p.Gly1130Val)
c.3197G>T (p.Gly1066Val)
13g.110174463C=CA2118737538COL4A1c.3389G= (p.Gly1130=)
c.3197G= (p.Gly1066=)
13g.110174463C>GCA388664351COL4A1c.3389G>C (p.Gly1130Ala)
c.3197G>C (p.Gly1066Ala)
13g.110174463C>TCA341450COL4A1c.3389G>A (p.Gly1130Asp)
c.3197G>A (p.Gly1066Asp)
 ClinVar dbSNP
13g.110174464C>ACA388664352COL4A1c.3388G>T (p.Gly1130Cys)
c.3196G>T (p.Gly1066Cys)
13g.110174464C>GCA388664353COL4A1c.3388G>C (p.Gly1130Arg)
c.3196G>C (p.Gly1066Arg)
13g.110174464C>TCA388664354COL4A1c.3388G>A (p.Gly1130Ser)
c.3196G>A (p.Gly1066Ser)
13g.110174465A>CCA484789290COL4A1c.3387T>G (p.Pro1129=)
c.3195T>G (p.Pro1065=)
13g.110174465A>GCA484789291COL4A1c.3387T>C (p.Pro1129=)
c.3195T>C (p.Pro1065=)
13g.110174465A>TCA484789292COL4A1c.3387T>A (p.Pro1129=)
c.3195T>A (p.Pro1065=)
13g.110174466G>ACA388664355COL4A1c.3386C>T (p.Pro1129Leu)
c.3194C>T (p.Pro1065Leu)
 gnomAD v4
13g.110174466G>CCA388664356COL4A1c.3386C>G (p.Pro1129Arg)
c.3194C>G (p.Pro1065Arg)
13g.110174466G>TCA388664357COL4A1c.3386C>A (p.Pro1129His)
c.3194C>A (p.Pro1065His)
13g.110174467G>ACA388664359COL4A1c.3385C>T (p.Pro1129Ser)
c.3193C>T (p.Pro1065Ser)
 gnomAD v4
13g.110174467G>CCA388664360COL4A1c.3385C>G (p.Pro1129Ala)
c.3193C>G (p.Pro1065Ala)
13g.110174467G>TCA388664358COL4A1c.3385C>A (p.Pro1129Thr)
c.3193C>A (p.Pro1065Thr)
13g.110174468G>ACA484789294COL4A1c.3384C>T (p.Ile1128=)
c.3192C>T (p.Ile1064=)
13g.110174468G>CCA388664361COL4A1c.3384C>G (p.Ile1128Met)
c.3192C>G (p.Ile1064Met)
13g.110174468G=CA2118737546COL4A1c.3384C= (p.Ile1128=)
c.3192C= (p.Ile1064=)
13g.110174468G>TCA484789295COL4A1c.3384C>A (p.Ile1128=)
c.3192C>A (p.Ile1064=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.110174469A=CA2118737548COL4A1c.3383T= (p.Ile1128=)
c.3191T= (p.Ile1064=)
13g.110174469A>CCA388664362COL4A1c.3383T>G (p.Ile1128Ser)
c.3191T>G (p.Ile1064Ser)
13g.110174469A>GCA388664363COL4A1c.3383T>C (p.Ile1128Thr)
c.3191T>C (p.Ile1064Thr)
13g.110174469A>TCA7047282COL4A1c.3383T>A (p.Ile1128Asn)
c.3191T>A (p.Ile1064Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110174470T>ACA388664366COL4A1c.3382A>T (p.Ile1128Phe)
c.3190A>T (p.Ile1064Phe)
13g.110174470T>CCA388664365COL4A1c.3382A>G (p.Ile1128Val)
c.3190A>G (p.Ile1064Val)
13g.110174470T>GCA388664364COL4A1c.3382A>C (p.Ile1128Leu)
c.3190A>C (p.Ile1064Leu)
13g.110174471G>ACA7047283COL4A1c.3381C>T (p.Gly1127=)
c.3189C>T (p.Gly1063=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.110174471G>CCA484789299COL4A1c.3381C>G (p.Gly1127=)
c.3189C>G (p.Gly1063=)
13g.110174471G=CA2118737552COL4A1c.3381C= (p.Gly1127=)
c.3189C= (p.Gly1063=)
13g.110174471G>TCA484789298COL4A1c.3381C>A (p.Gly1127=)
c.3189C>A (p.Gly1063=)
13g.110174472C>ACA388664367COL4A1c.3380G>T (p.Gly1127Val)
c.3188G>T (p.Gly1063Val)
13g.110174472C>GCA388664368COL4A1c.3380G>C (p.Gly1127Ala)
c.3188G>C (p.Gly1063Ala)
13g.110174472C>TCA388664369COL4A1c.3380G>A (p.Gly1127Asp)
c.3188G>A (p.Gly1063Asp)
13g.110174473C>ACA388664370COL4A1c.3379G>T (p.Gly1127Cys)
c.3187G>T (p.Gly1063Cys)
13g.110174473C>GCA388664371COL4A1c.3379G>C (p.Gly1127Arg)
c.3187G>C (p.Gly1063Arg)
13g.110174473C>TCA388664372COL4A1c.3379G>A (p.Gly1127Ser)
c.3187G>A (p.Gly1063Ser)
 ClinVar gnomAD v4
13g.110174474A=CA2118737559COL4A1c.3378T= (p.Asp1126=)
c.3186T= (p.Asp1062=)
13g.110174474A>CCA388664374COL4A1c.3378T>G (p.Asp1126Glu)
c.3186T>G (p.Asp1062Glu)
13g.110174474A>GCA256253696COL4A1c.3378T>C (p.Asp1126=)
c.3186T>C (p.Asp1062=)
 dbSNP gnomAD v4
13g.110174474A>TCA388664373COL4A1c.3378T>A (p.Asp1126Glu)
c.3186T>A (p.Asp1062Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.110174475T>ACA388664375COL4A1c.3377A>T (p.Asp1126Val)
c.3185A>T (p.Asp1062Val)
13g.110174475T>CCA388664377COL4A1c.3377A>G (p.Asp1126Gly)
c.3185A>G (p.Asp1062Gly)
 dbSNP gnomAD v3 gnomAD v4
13g.110174475T>GCA388664376COL4A1c.3377A>C (p.Asp1126Ala)
c.3185A>C (p.Asp1062Ala)
13g.110174475T=CA2118737563COL4A1c.3377A= (p.Asp1126=)
c.3185A= (p.Asp1062=)
13g.110174476C>ACA388664378COL4A1c.3376G>T (p.Asp1126Tyr)
c.3184G>T (p.Asp1062Tyr)
 ClinVar dbSNP
13g.110174476C=CA2118737565COL4A1c.3376G= (p.Asp1126=)
c.3184G= (p.Asp1062=)
13g.110174476C>GCA388664379COL4A1c.3376G>C (p.Asp1126His)
c.3184G>C (p.Asp1062His)
13g.110174476C>TCA388664380COL4A1c.3376G>A (p.Asp1126Asn)
c.3184G>A (p.Asp1062Asn)
 dbSNP gnomAD v2 gnomAD v4
13g.110174477C>ACA388664381COL4A1c.3375G>T (p.Leu1125Phe)
c.3183G>T (p.Leu1061Phe)
 gnomAD v4
13g.110174477C=CA2118737569COL4A1c.3375G= (p.Leu1125=)
c.3183G= (p.Leu1061=)
13g.110174477C>GCA388664382COL4A1c.3375G>C (p.Leu1125Phe)
c.3183G>C (p.Leu1061Phe)
13g.110174477C>TCA484789303COL4A1c.3375G>A (p.Leu1125=)
c.3183G>A (p.Leu1061=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.110174478A>CCA388664383COL4A1c.3374T>G (p.Leu1125Trp)
c.3182T>G (p.Leu1061Trp)
13g.110174478A>GCA388664384COL4A1c.3374T>C (p.Leu1125Ser)
c.3182T>C (p.Leu1061Ser)
13g.110174478A>TCA388664385COL4A1c.3374T>A (p.Leu1125Ter)
c.3182T>A (p.Leu1061Ter)
13g.110174479A>CCA388664386COL4A1c.3373T>G (p.Leu1125Val)
c.3181T>G (p.Leu1061Val)
13g.110174479A>GCA484789304COL4A1c.3373T>C (p.Leu1125=)
c.3181T>C (p.Leu1061=)
 gnomAD v4
13g.110174479A>TCA388664387COL4A1c.3373T>A (p.Leu1125Met)
c.3181T>A (p.Leu1061Met)
13g.110174480T>ACA484789305COL4A1c.3372A>T (p.Gly1124=)
c.3180A>T (p.Gly1060=)
13g.110174480T>CCA484789306COL4A1c.3372A>G (p.Gly1124=)
c.3180A>G (p.Gly1060=)
 gnomAD v4
13g.110174480T>GCA484789307COL4A1c.3372A>C (p.Gly1124=)
c.3180A>C (p.Gly1060=)
13g.110174481C>ACA388664388COL4A1c.3371G>T (p.Gly1124Val)
c.3179G>T (p.Gly1060Val)
13g.110174481C=CA2118737576COL4A1c.3371G= (p.Gly1124=)
c.3179G= (p.Gly1060=)
13g.110174481C>GCA388664389COL4A1c.3371G>C (p.Gly1124Ala)
c.3179G>C (p.Gly1060Ala)
13g.110174481C>TCA388664390COL4A1c.3371G>A (p.Gly1124Glu)
c.3179G>A (p.Gly1060Glu)
 ClinVar dbSNP
13g.110174482C>ACA388664393COL4A1c.3370G>T (p.Gly1124Ter)
c.3178G>T (p.Gly1060Ter)
13g.110174482C>GCA388664391COL4A1c.3370G>C (p.Gly1124Arg)
c.3178G>C (p.Gly1060Arg)
13g.110174482C>TCA388664392COL4A1c.3370G>A (p.Gly1124Arg)
c.3178G>A (p.Gly1060Arg)
13g.110174483T>ACA484789308COL4A1c.3369A>T (p.Pro1123=)
c.3177A>T (p.Pro1059=)
13g.110174483T>CCA484789310COL4A1c.3369A>G (p.Pro1123=)
c.3177A>G (p.Pro1059=)
13g.110174483T>GCA484789309COL4A1c.3369A>C (p.Pro1123=)
c.3177A>C (p.Pro1059=)
13g.110174484G>ACA388664394COL4A1c.3368C>T (p.Pro1123Leu)
c.3176C>T (p.Pro1059Leu)
 dbSNP gnomAD v4
13g.110174484G>CCA388664395COL4A1c.3368C>G (p.Pro1123Arg)
c.3176C>G (p.Pro1059Arg)
 gnomAD v4
13g.110174484G=CA2118737581COL4A1c.3368C= (p.Pro1123=)
c.3176C= (p.Pro1059=)
13g.110174484G>TCA388664396COL4A1c.3368C>A (p.Pro1123Gln)
c.3176C>A (p.Pro1059Gln)
13g.110174485G>ACA388664397COL4A1c.3367C>T (p.Pro1123Ser)
c.3175C>T (p.Pro1059Ser)
 COSMIC COSMIC
13g.110174485G>CCA388664398COL4A1c.3367C>G (p.Pro1123Ala)
c.3175C>G (p.Pro1059Ala)
13g.110174485G>TCA388664399COL4A1c.3367C>A (p.Pro1123Thr)
c.3175C>A (p.Pro1059Thr)
13g.110174486G>ACA7047284COL4A1c.3366C>T (p.Leu1122=)
c.3174C>T (p.Leu1058=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110174486G>CCA484789311COL4A1c.3366C>G (p.Leu1122=)
c.3174C>G (p.Leu1058=)
13g.110174486G=CA2118737586COL4A1c.3366C= (p.Leu1122=)
c.3174C= (p.Leu1058=)
13g.110174486G>TCA484789312COL4A1c.3366C>A (p.Leu1122=)
c.3174C>A (p.Leu1058=)
13g.110174487A=CA2118737589COL4A1c.3365T= (p.Leu1122=)
c.3173T= (p.Leu1058=)
13g.110174487A>CCA388664400COL4A1c.3365T>G (p.Leu1122Arg)
c.3173T>G (p.Leu1058Arg)
13g.110174487A>GCA388664401COL4A1c.3365T>C (p.Leu1122Pro)
c.3173T>C (p.Leu1058Pro)
 dbSNP gnomAD v2 gnomAD v4
13g.110174487A>TCA388664402COL4A1c.3365T>A (p.Leu1122His)
c.3173T>A (p.Leu1058His)
13g.110174488G>ACA7047285COL4A1c.3364C>T (p.Leu1122Phe)
c.3172C>T (p.Leu1058Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
13g.110174488G>CCA388664403COL4A1c.3364C>G (p.Leu1122Val)
c.3172C>G (p.Leu1058Val)
13g.110174488G=CA2118737592COL4A1c.3364C= (p.Leu1122=)
c.3172C= (p.Leu1058=)
13g.110174488G>TCA388664404COL4A1c.3364C>A (p.Leu1122Ile)
c.3172C>A (p.Leu1058Ile)
13g.110174489G>ACA7047286COL4A1c.3363C>T (p.Gly1121=)
c.3171C>T (p.Gly1057=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110174489G>CCA484789313COL4A1c.3363C>G (p.Gly1121=)
c.3171C>G (p.Gly1057=)
13g.110174489G=CA2118737596COL4A1c.3363C= (p.Gly1121=)
c.3171C= (p.Gly1057=)
13g.110174489G>TCA484789314COL4A1c.3363C>A (p.Gly1121=)
c.3171C>A (p.Gly1057=)
 dbSNP
13g.110174490C>ACA388664407COL4A1c.3362G>T (p.Gly1121Val)
c.3170G>T (p.Gly1057Val)
13g.110174490C>GCA388664405COL4A1c.3362G>C (p.Gly1121Ala)
c.3170G>C (p.Gly1057Ala)
 COSMIC COSMIC
13g.110174490C>TCA388664406COL4A1c.3362G>A (p.Gly1121Asp)
c.3170G>A (p.Gly1057Asp)
 COSMIC COSMIC
13g.110174491C>ACA388664408COL4A1c.3361G>T (p.Gly1121Cys)
c.3169G>T (p.Gly1057Cys)
13g.110174491C>GCA388664409COL4A1c.3361G>C (p.Gly1121Arg)
c.3169G>C (p.Gly1057Arg)
13g.110174491C>TCA388664410COL4A1c.3361G>A (p.Gly1121Ser)
c.3169G>A (p.Gly1057Ser)
13g.110174492T>ACA388664411COL4A1c.3360A>T (p.Lys1120Asn)
c.3168A>T (p.Lys1056Asn)
13g.110174492T>CCA484789315COL4A1c.3360A>G (p.Lys1120=)
c.3168A>G (p.Lys1056=)
13g.110174492T>GCA388664412COL4A1c.3360A>C (p.Lys1120Asn)
c.3168A>C (p.Lys1056Asn)

Number of alleles fetched