Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.110173843A>GCA2623673266COL4A1c.3505+57T>C (n.3505+57T>C)
c.3313+57T>C (n.3313+57T>C)
 gnomAD v4
13g.110173844G>ACA256253392COL4A1c.3505+56C>T (n.3505+56C>T)
c.3313+56C>T (n.3313+56C>T)
 dbSNP gnomAD v3 gnomAD v4
13g.110173844G>CCA2623673267COL4A1c.3505+56C>G (n.3505+56C>G)
c.3313+56C>G (n.3313+56C>G)
 gnomAD v4
13g.110173844G=CA2118736920COL4A1c.3505+56C= (n.3505+56C=)
c.3313+56C= (n.3313+56C=)
13g.110173844G>TCA2800581133COL4A1c.3505+56C>A (n.3505+56C>A)
c.3313+56C>A (n.3313+56C>A)
13g.110173845G>ACA2575453830COL4A1c.3505+55C>T (n.3505+55C>T)
c.3313+55C>T (n.3313+55C>T)
13g.110173848T>ACA960161606COL4A1c.3505+52A>T (n.3505+52A>T)
c.3313+52A>T (n.3313+52A>T)
 dbSNP gnomAD v3 gnomAD v4
13g.110173848T=CA2118736926COL4A1c.3505+52A= (n.3505+52A=)
c.3313+52A= (n.3313+52A=)
13g.110173851G>ACA256253396COL4A1c.3505+49C>T (n.3505+49C>T)
c.3313+49C>T (n.3313+49C>T)
 dbSNP
13g.110173851G=CA2118736928COL4A1c.3505+49C= (n.3505+49C=)
c.3313+49C= (n.3313+49C=)
13g.110173855G>ACA2623673268COL4A1c.3505+45C>T (n.3505+45C>T)
c.3313+45C>T (n.3313+45C>T)
 gnomAD v4
13g.110173855G>CCA2118736931COL4A1c.3505+45C>G (n.3505+45C>G)
c.3313+45C>G (n.3313+45C>G)
 dbSNP gnomAD v4
13g.110173855G=CA2118736930COL4A1c.3505+45C= (n.3505+45C=)
c.3313+45C= (n.3313+45C=)
13g.110173856T>ACA2623673269COL4A1c.3505+44A>T (n.3505+44A>T)
c.3313+44A>T (n.3313+44A>T)
 gnomAD v4
13g.110173857G>ACA612624524COL4A1c.3505+43C>T (n.3505+43C>T)
c.3313+43C>T (n.3313+43C>T)
 dbSNP gnomAD v2
13g.110173857G=CA2118736932COL4A1c.3505+43C= (n.3505+43C=)
c.3313+43C= (n.3313+43C=)
13g.110173858G>CCA7047238COL4A1c.3505+42C>G (n.3505+42C>G)
c.3313+42C>G (n.3313+42C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.110173858G=CA2118736934COL4A1c.3505+42C= (n.3505+42C=)
c.3313+42C= (n.3313+42C=)
13g.110173860C>TCA2623673270COL4A1c.3505+40G>A (n.3505+40G>A)
c.3313+40G>A (n.3313+40G>A)
 gnomAD v4
13g.110173861A=CA2118736936COL4A1c.3505+39T= (n.3505+39T=)
c.3313+39T= (n.3313+39T=)
13g.110173861A>CCA695034923COL4A1c.3505+39T>G (n.3505+39T>G)
c.3313+39T>G (n.3313+39T>G)
 dbSNP gnomAD v3 gnomAD v4
13g.110173862C=CA2118736938COL4A1c.3505+38G= (n.3505+38G=)
c.3313+38G= (n.3313+38G=)
13g.110173862C>TCA7047239COL4A1c.3505+38G>A (n.3505+38G>A)
c.3313+38G>A (n.3313+38G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110173863T>GCA2530278391COL4A1c.3505+37A>C (n.3505+37A>C)
c.3313+37A>C (n.3313+37A>C)
13g.110173863T=CA2118736939COL4A1c.3505+37A= (n.3505+37A=)
c.3313+37A= (n.3313+37A=)
13g.110173864dupCA612624525COL4A1c.3505+36dup (n.3505+36dup)
c.3313+36dup (n.3313+36dup)
 dbSNP gnomAD v2
13g.110173865C>ACA2118736942COL4A1c.3505+35G>T (n.3505+35G>T)
c.3313+35G>T (n.3313+35G>T)
 dbSNP
13g.110173865C=CA2118736941COL4A1c.3505+35G= (n.3505+35G=)
c.3313+35G= (n.3313+35G=)
13g.110173869T>ACA2510290404COL4A1c.3505+31A>T (n.3505+31A>T)
c.3313+31A>T (n.3313+31A>T)
13g.110173869T>CCA7047240COL4A1c.3505+31A>G (n.3505+31A>G)
c.3313+31A>G (n.3313+31A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.110173869T=CA2118736944COL4A1c.3505+31A= (n.3505+31A=)
c.3313+31A= (n.3313+31A=)
13g.110173871C>TCA2623673271COL4A1c.3505+29G>A (n.3505+29G>A)
c.3313+29G>A (n.3313+29G>A)
 gnomAD v4
13g.110173872T>ACA2623673272COL4A1c.3505+28A>T (n.3505+28A>T)
c.3313+28A>T (n.3313+28A>T)
 gnomAD v4
13g.110173873G>ACA2623673273COL4A1c.3505+27C>T (n.3505+27C>T)
c.3313+27C>T (n.3313+27C>T)
 gnomAD v4
13g.110173873G>CCA2575453831COL4A1c.3505+27C>G (n.3505+27C>G)
c.3313+27C>G (n.3313+27C>G)
13g.110173874A=CA2118736946COL4A1c.3505+26T= (n.3505+26T=)
c.3313+26T= (n.3313+26T=)
13g.110173874A>GCA7047241COL4A1c.3505+26T>C (n.3505+26T>C)
c.3313+26T>C (n.3313+26T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.110173875T>ACA960161608COL4A1c.3505+25A>T (n.3505+25A>T)
c.3313+25A>T (n.3313+25A>T)
 dbSNP gnomAD v3 gnomAD v4
13g.110173875T>CCA7047242COL4A1c.3505+25A>G (n.3505+25A>G)
c.3313+25A>G (n.3313+25A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.110173875T=CA2118736949COL4A1c.3505+25A= (n.3505+25A=)
c.3313+25A= (n.3313+25A=)
13g.110173877G>ACA7047243COL4A1c.3505+23C>T (n.3505+23C>T)
c.3313+23C>T (n.3313+23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110173877G=CA2118736952COL4A1c.3505+23C= (n.3505+23C=)
c.3313+23C= (n.3313+23C=)
13g.110173877G>TCA2575453832COL4A1c.3505+23C>A (n.3505+23C>A)
c.3313+23C>A (n.3313+23C>A)
13g.110173878G>ACA7047244COL4A1c.3505+22C>T (n.3505+22C>T)
c.3313+22C>T (n.3313+22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.110173878G=CA2118736954COL4A1c.3505+22C= (n.3505+22C=)
c.3313+22C= (n.3313+22C=)
13g.110173879G>ACA2623673274COL4A1c.3505+21C>T (n.3505+21C>T)
c.3313+21C>T (n.3313+21C>T)
 gnomAD v4
13g.110173879G=CA2118736957COL4A1c.3505+21C= (n.3505+21C=)
c.3313+21C= (n.3313+21C=)
13g.110173879G>TCA612624526COL4A1c.3505+21C>A (n.3505+21C>A)
c.3313+21C>A (n.3313+21C>A)
 dbSNP gnomAD v2 gnomAD v4
13g.110173882T>ACA7047245COL4A1c.3505+18A>T (n.3505+18A>T)
c.3313+18A>T (n.3313+18A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110173882T>GCA612624527COL4A1c.3505+18A>C (n.3505+18A>C)
c.3313+18A>C (n.3313+18A>C)
 dbSNP gnomAD v2 gnomAD v4
13g.110173882T=CA2118736959COL4A1c.3505+18A= (n.3505+18A=)
c.3313+18A= (n.3313+18A=)
13g.110173883G>ACA2623673275COL4A1c.3505+17C>T (n.3505+17C>T)
c.3313+17C>T (n.3313+17C>T)
 gnomAD v4
13g.110173883G>CCA2623673276COL4A1c.3505+17C>G (n.3505+17C>G)
c.3313+17C>G (n.3313+17C>G)
 gnomAD v4
13g.110173883G>TCA2575453833COL4A1c.3505+17C>A (n.3505+17C>A)
c.3313+17C>A (n.3313+17C>A)
13g.110173884G>ACA2623673277COL4A1c.3505+16C>T (n.3505+16C>T)
c.3313+16C>T (n.3313+16C>T)
 gnomAD v4
13g.110173884G=CA2118736962COL4A1c.3505+16C= (n.3505+16C=)
c.3313+16C= (n.3313+16C=)
13g.110173884G>TCA612624528COL4A1c.3505+16C>A (n.3505+16C>A)
c.3313+16C>A (n.3313+16C>A)
 dbSNP gnomAD v2 gnomAD v4
13g.110173885G>CCA7047246COL4A1c.3505+15C>G (n.3505+15C>G)
c.3313+15C>G (n.3313+15C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.110173885G=CA2118736964COL4A1c.3505+15C= (n.3505+15C=)
c.3313+15C= (n.3313+15C=)
13g.110173885G>TCA2623673278COL4A1c.3505+15C>A (n.3505+15C>A)
c.3313+15C>A (n.3313+15C>A)
 gnomAD v4
13g.110173886G>ACA2118736969COL4A1c.3505+14C>T (n.3505+14C>T)
c.3313+14C>T (n.3313+14C>T)
 dbSNP gnomAD v4
13g.110173886G=CA2118736967COL4A1c.3505+14C= (n.3505+14C=)
c.3313+14C= (n.3313+14C=)
13g.110173887C>ACA7047248COL4A1c.3505+13G>T (n.3505+13G>T)
c.3313+13G>T (n.3313+13G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110173887C=CA2118736972COL4A1c.3505+13G= (n.3505+13G=)
c.3313+13G= (n.3313+13G=)
13g.110173887C>TCA7047247COL4A1c.3505+13G>A (n.3505+13G>A)
c.3313+13G>A (n.3313+13G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110173888G>ACA7047249COL4A1c.3505+12C>T (n.3505+12C>T)
c.3313+12C>T (n.3313+12C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110173888G=CA2118736975COL4A1c.3505+12C= (n.3505+12C=)
c.3313+12C= (n.3313+12C=)
13g.110173889T>ACA2623673279COL4A1c.3505+11A>T (n.3505+11A>T)
c.3313+11A>T (n.3313+11A>T)
 gnomAD v4
13g.110173889T>CCA7047250COL4A1c.3505+11A>G (n.3505+11A>G)
c.3313+11A>G (n.3313+11A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.110173889T=CA2118736977COL4A1c.3505+11A= (n.3505+11A=)
c.3313+11A= (n.3313+11A=)
13g.110173890T>GCA256253428COL4A1c.3505+10A>C (n.3505+10A>C)
c.3313+10A>C (n.3313+10A>C)
 dbSNP
13g.110173890T=CA2118736979COL4A1c.3505+10A= (n.3505+10A=)
c.3313+10A= (n.3313+10A=)
13g.110173891G>ACA2575453834COL4A1c.3505+9C>T (n.3505+9C>T)
c.3313+9C>T (n.3313+9C>T)
 gnomAD v4
13g.110173892G>TCA2800581134COL4A1c.3505+8C>A (n.3505+8C>A)
c.3313+8C>A (n.3313+8C>A)
13g.110173893G>ACA2728936866COL4A1c.3505+7C>T (n.3505+7C>T)
c.3313+7C>T (n.3313+7C>T)
 dbSNP
13g.110173893G>CCA612624529COL4A1c.3505+7C>G (n.3505+7C>G)
c.3313+7C>G (n.3313+7C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.110173893G=CA2118736982COL4A1c.3505+7C= (n.3505+7C=)
c.3313+7C= (n.3313+7C=)
13g.110173895_110173896delinsCACA2118736985COL4A1c.3505+4_3505+5delinsTG (n.3505+4_3505+5delinsTG)
c.3313+4_3313+5delinsTG (n.3313+4_3313+5delinsTG)
13g.110173896delCA7047251COL4A1c.3505+4del (n.3505+4del)
c.3313+4del (n.3313+4del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110173896A=CA2118736987COL4A1c.3505+4T= (n.3505+4T=)
c.3313+4T= (n.3313+4T=)
13g.110173896A>CCA2580087134COL4A1c.3505+4T>G (n.3505+4T>G)
c.3313+4T>G (n.3313+4T>G)
 ClinVar
13g.110173896A>GCA7047252COL4A1c.3505+4T>C (n.3505+4T>C)
c.3313+4T>C (n.3313+4T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.110173897delCA388664091COL4A1c.3505+3del (n.3505+3del)
c.3313+3del (n.3313+3del)
13g.110173897T>ACA484789103COL4A1c.3505+3A>T (n.3505+3A>T)
c.3313+3A>T (n.3313+3A>T)
 COSMIC COSMIC
13g.110173897T>CCA2623673280COL4A1c.3505+3A>G (n.3505+3A>G)
c.3313+3A>G (n.3313+3A>G)
 gnomAD v4
13g.110173898A>CCA388664092COL4A1c.3505+2T>G (n.3505+2T>G)
c.3313+2T>G (n.3313+2T>G)
13g.110173898A>GCA388664093COL4A1c.3505+2T>C (n.3505+2T>C)
c.3313+2T>C (n.3313+2T>C)
13g.110173898A>TCA388664094COL4A1c.3505+2T>A (n.3505+2T>A)
c.3313+2T>A (n.3313+2T>A)
13g.110173899C>ACA388664095COL4A1c.3505+1G>T (n.3505+1G>T)
c.3313+1G>T (n.3313+1G>T)
13g.110173899C=CA2118736994COL4A1c.3505+1G= (n.3505+1G=)
c.3313+1G= (n.3313+1G=)
13g.110173899C>GCA388664096COL4A1c.3505+1G>C (n.3505+1G>C)
c.3313+1G>C (n.3313+1G>C)
13g.110173899C>TCA388664097COL4A1c.3505+1G>A (n.3505+1G>A)
c.3313+1G>A (n.3313+1G>A)
 ClinVar dbSNP
13g.110173900C>ACA388664098COL4A1c.3505G>T (p.Gly1169Cys)
c.3313G>T (p.Gly1105Cys)
13g.110173900C>GCA388664100COL4A1c.3505G>C (p.Gly1169Arg)
c.3313G>C (p.Gly1105Arg)
13g.110173900C>TCA388664099COL4A1c.3505G>A (p.Gly1169Ser)
c.3313G>A (p.Gly1105Ser)
13g.110173901T>ACA484789104COL4A1c.3504A>T (p.Pro1168=)
c.3312A>T (p.Pro1104=)
13g.110173901T>CCA484789105COL4A1c.3504A>G (p.Pro1168=)
c.3312A>G (p.Pro1104=)
13g.110173901T>GCA484789106COL4A1c.3504A>C (p.Pro1168=)
c.3312A>C (p.Pro1104=)
13g.110173902G>ACA388664101COL4A1c.3503C>T (p.Pro1168Leu)
c.3311C>T (p.Pro1104Leu)
13g.110173902G>CCA388664102COL4A1c.3503C>G (p.Pro1168Arg)
c.3311C>G (p.Pro1104Arg)
13g.110173902G>TCA388664103COL4A1c.3503C>A (p.Pro1168Gln)
c.3311C>A (p.Pro1104Gln)
 gnomAD v4
13g.110173903G>ACA7047253COL4A1c.3502C>T (p.Pro1168Ser)
c.3310C>T (p.Pro1104Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.110173903G>CCA388664104COL4A1c.3502C>G (p.Pro1168Ala)
c.3310C>G (p.Pro1104Ala)
13g.110173903G=CA2118737003COL4A1c.3502C= (p.Pro1168=)
c.3310C= (p.Pro1104=)
13g.110173903G>TCA388664105COL4A1c.3502C>A (p.Pro1168Thr)
c.3310C>A (p.Pro1104Thr)
13g.110173904T>ACA388664106COL4A1c.3501A>T (p.Glu1167Asp)
c.3309A>T (p.Glu1103Asp)
13g.110173904T>CCA484789107COL4A1c.3501A>G (p.Glu1167=)
c.3309A>G (p.Glu1103=)
 ClinVar
13g.110173904T>GCA388664107COL4A1c.3501A>C (p.Glu1167Asp)
c.3309A>C (p.Glu1103Asp)
13g.110173905T>ACA388664108COL4A1c.3500A>T (p.Glu1167Val)
c.3308A>T (p.Glu1103Val)
13g.110173905T>CCA388664109COL4A1c.3500A>G (p.Glu1167Gly)
c.3308A>G (p.Glu1103Gly)
13g.110173905T>GCA388664110COL4A1c.3500A>C (p.Glu1167Ala)
c.3308A>C (p.Glu1103Ala)
13g.110173906C>ACA388664113COL4A1c.3499G>T (p.Glu1167Ter)
c.3307G>T (p.Glu1103Ter)
13g.110173906C=CA2118737007COL4A1c.3499G= (p.Glu1167=)
c.3307G= (p.Glu1103=)
13g.110173906C>GCA388664111COL4A1c.3499G>C (p.Glu1167Gln)
c.3307G>C (p.Glu1103Gln)
13g.110173906C>TCA388664112COL4A1c.3499G>A (p.Glu1167Lys)
c.3307G>A (p.Glu1103Lys)
 ClinVar dbSNP
13g.110173907A=CA2118737014COL4A1c.3498T= (p.Gly1166=)
c.3306T= (p.Gly1102=)
13g.110173907A>CCA484789108COL4A1c.3498T>G (p.Gly1166=)
c.3306T>G (p.Gly1102=)
13g.110173907A>GCA7047254COL4A1c.3498T>C (p.Gly1166=)
c.3306T>C (p.Gly1102=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110173907A>TCA484789109COL4A1c.3498T>A (p.Gly1166=)
c.3306T>A (p.Gly1102=)
13g.110173908C>ACA388664114COL4A1c.3497G>T (p.Gly1166Val)
c.3305G>T (p.Gly1102Val)
 ClinVar dbSNP
13g.110173908C=CA2118737020COL4A1c.3497G= (p.Gly1166=)
c.3305G= (p.Gly1102=)
13g.110173908C>GCA388664115COL4A1c.3497G>C (p.Gly1166Ala)
c.3305G>C (p.Gly1102Ala)
13g.110173908C>TCA388664116COL4A1c.3497G>A (p.Gly1166Asp)
c.3305G>A (p.Gly1102Asp)
 ClinVar
13g.110173909C>ACA7047255COL4A1c.3496G>T (p.Gly1166Cys)
c.3304G>T (p.Gly1102Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110173909C=CA2118737026COL4A1c.3496G= (p.Gly1166=)
c.3304G= (p.Gly1102=)
13g.110173909C>GCA388664117COL4A1c.3496G>C (p.Gly1166Arg)
c.3304G>C (p.Gly1102Arg)
13g.110173909C>TCA388664118COL4A1c.3496G>A (p.Gly1166Ser)
c.3304G>A (p.Gly1102Ser)
13g.110173910C>ACA388664120COL4A1c.3495G>T (p.Lys1165Asn)
c.3303G>T (p.Lys1101Asn)
13g.110173910C=CA2118737031COL4A1c.3495G= (p.Lys1165=)
c.3303G= (p.Lys1101=)
13g.110173910C>GCA388664119COL4A1c.3495G>C (p.Lys1165Asn)
c.3303G>C (p.Lys1101Asn)
 ClinVar dbSNP
13g.110173910C>TCA484789110COL4A1c.3495G>A (p.Lys1165=)
c.3303G>A (p.Lys1101=)
 dbSNP gnomAD v3 gnomAD v4
13g.110173911T>ACA388664121COL4A1c.3494A>T (p.Lys1165Met)
c.3302A>T (p.Lys1101Met)
13g.110173911T>CCA388664122COL4A1c.3494A>G (p.Lys1165Arg)
c.3302A>G (p.Lys1101Arg)
13g.110173911T>GCA388664123COL4A1c.3494A>C (p.Lys1165Thr)
c.3302A>C (p.Lys1101Thr)
 COSMIC COSMIC
13g.110173912T>ACA388664124COL4A1c.3493A>T (p.Lys1165Ter)
c.3301A>T (p.Lys1101Ter)
13g.110173912T>CCA388664125COL4A1c.3493A>G (p.Lys1165Glu)
c.3301A>G (p.Lys1101Glu)
 ClinVar gnomAD v4
13g.110173912T>GCA388664126COL4A1c.3493A>C (p.Lys1165Gln)
c.3301A>C (p.Lys1101Gln)
13g.110173913C>ACA388664127COL4A1c.3492G>T (p.Glu1164Asp)
c.3300G>T (p.Glu1100Asp)
 gnomAD v4
13g.110173913C=CA2118737034COL4A1c.3492G= (p.Glu1164=)
c.3300G= (p.Glu1100=)
13g.110173913C>GCA388664128COL4A1c.3492G>C (p.Glu1164Asp)
c.3300G>C (p.Glu1100Asp)
13g.110173913C>TCA7047256COL4A1c.3492G>A (p.Glu1164=)
c.3300G>A (p.Glu1100=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110173914T>ACA388664129COL4A1c.3491A>T (p.Glu1164Val)
c.3299A>T (p.Glu1100Val)
13g.110173914T>CCA388664130COL4A1c.3491A>G (p.Glu1164Gly)
c.3299A>G (p.Glu1100Gly)
13g.110173914T>GCA388664131COL4A1c.3491A>C (p.Glu1164Ala)
c.3299A>C (p.Glu1100Ala)
13g.110173915C>ACA388664132COL4A1c.3490G>T (p.Glu1164Ter)
c.3298G>T (p.Glu1100Ter)
13g.110173915C>GCA388664133COL4A1c.3490G>C (p.Glu1164Gln)
c.3298G>C (p.Glu1100Gln)
13g.110173915C>TCA388664134COL4A1c.3490G>A (p.Glu1164Lys)
c.3298G>A (p.Glu1100Lys)
13g.110173916T>ACA484789111COL4A1c.3489A>T (p.Gly1163=)
c.3297A>T (p.Gly1099=)
13g.110173916T>CCA484789112COL4A1c.3489A>G (p.Gly1163=)
c.3297A>G (p.Gly1099=)
 dbSNP gnomAD v3 gnomAD v4
13g.110173916T>GCA484789113COL4A1c.3489A>C (p.Gly1163=)
c.3297A>C (p.Gly1099=)
13g.110173916T=CA2118737036COL4A1c.3489A= (p.Gly1163=)
c.3297A= (p.Gly1099=)
13g.110173917C>ACA388664135COL4A1c.3488G>T (p.Gly1163Val)
c.3296G>T (p.Gly1099Val)
13g.110173917C>GCA388664136COL4A1c.3488G>C (p.Gly1163Ala)
c.3296G>C (p.Gly1099Ala)
13g.110173917C>TCA388664137COL4A1c.3488G>A (p.Gly1163Glu)
c.3296G>A (p.Gly1099Glu)
 ClinVar dbSNP
13g.110173918C>ACA388664138COL4A1c.3487G>T (p.Gly1163Ter)
c.3295G>T (p.Gly1099Ter)
13g.110173918C>GCA388664139COL4A1c.3487G>C (p.Gly1163Arg)
c.3295G>C (p.Gly1099Arg)
13g.110173918C>TCA388664140COL4A1c.3487G>A (p.Gly1163Arg)
c.3295G>A (p.Gly1099Arg)
13g.110173919T>ACA484789114COL4A1c.3486A>T (p.Ala1162=)
c.3294A>T (p.Ala1098=)
13g.110173919T>CCA484789115COL4A1c.3486A>G (p.Ala1162=)
c.3294A>G (p.Ala1098=)
13g.110173919T>GCA484789116COL4A1c.3486A>C (p.Ala1162=)
c.3294A>C (p.Ala1098=)
13g.110173920G>ACA7047257COL4A1c.3485C>T (p.Ala1162Val)
c.3293C>T (p.Ala1098Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.110173920G>CCA388664142COL4A1c.3485C>G (p.Ala1162Gly)
c.3293C>G (p.Ala1098Gly)
13g.110173920G=CA2118737038COL4A1c.3485C= (p.Ala1162=)
c.3293C= (p.Ala1098=)
13g.110173920G>TCA388664141COL4A1c.3485C>A (p.Ala1162Glu)
c.3293C>A (p.Ala1098Glu)
 gnomAD v4
13g.110173921C>ACA388664143COL4A1c.3484G>T (p.Ala1162Ser)
c.3292G>T (p.Ala1098Ser)
 gnomAD v4
13g.110173921C=CA2118737040COL4A1c.3484G= (p.Ala1162=)
c.3292G= (p.Ala1098=)
13g.110173921C>GCA388664144COL4A1c.3484G>C (p.Ala1162Pro)
c.3292G>C (p.Ala1098Pro)
13g.110173921C>TCA7047258COL4A1c.3484G>A (p.Ala1162Thr)
c.3292G>A (p.Ala1098Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.110173922T>ACA484789117COL4A1c.3483A>T (p.Ser1161=)
c.3291A>T (p.Ser1097=)
13g.110173922T>CCA484789118COL4A1c.3483A>G (p.Ser1161=)
c.3291A>G (p.Ser1097=)
13g.110173922T>GCA484789119COL4A1c.3483A>C (p.Ser1161=)
c.3291A>C (p.Ser1097=)
13g.110173923G>ACA388664145COL4A1c.3482C>T (p.Ser1161Leu)
c.3290C>T (p.Ser1097Leu)
13g.110173923G>CCA388664146COL4A1c.3482C>G (p.Ser1161Ter)
c.3290C>G (p.Ser1097Ter)
13g.110173923G>TCA388664147COL4A1c.3482C>A (p.Ser1161Ter)
c.3290C>A (p.Ser1097Ter)
13g.110173924A=CA2118737043COL4A1c.3481T= (p.Ser1161=)
c.3289T= (p.Ser1097=)
13g.110173924A>CCA388664148COL4A1c.3481T>G (p.Ser1161Ala)
c.3289T>G (p.Ser1097Ala)
13g.110173924A>GCA388664149COL4A1c.3481T>C (p.Ser1161Pro)
c.3289T>C (p.Ser1097Pro)
 dbSNP gnomAD v2 gnomAD v4
13g.110173924A>TCA388664150COL4A1c.3481T>A (p.Ser1161Thr)
c.3289T>A (p.Ser1097Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.110173925C>ACA484789120COL4A1c.3480G>T (p.Gly1160=)
c.3288G>T (p.Gly1096=)
13g.110173925C=CA2118737046COL4A1c.3480G= (p.Gly1160=)
c.3288G= (p.Gly1096=)
13g.110173925C>GCA484789121COL4A1c.3480G>C (p.Gly1160=)
c.3288G>C (p.Gly1096=)
13g.110173925C>TCA7047259COL4A1c.3480G>A (p.Gly1160=)
c.3288G>A (p.Gly1096=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.110173928delCA2580616535COL4A1c.3480del (p.Ser1161GlnfsTer?)
c.3288del (p.Ser1097GlnfsTer?)
 ClinVar
13g.110173926C>ACA388664151COL4A1c.3479G>T (p.Gly1160Val)
c.3287G>T (p.Gly1096Val)
 COSMIC COSMIC
13g.110173926C>GCA388664152COL4A1c.3479G>C (p.Gly1160Ala)
c.3287G>C (p.Gly1096Ala)
13g.110173926C>TCA388664153COL4A1c.3479G>A (p.Gly1160Glu)
c.3287G>A (p.Gly1096Glu)
13g.110173927C>ACA388664156COL4A1c.3478G>T (p.Gly1160Trp)
c.3286G>T (p.Gly1096Trp)
13g.110173927C>GCA388664154COL4A1c.3478G>C (p.Gly1160Arg)
c.3286G>C (p.Gly1096Arg)
13g.110173927C>TCA388664155COL4A1c.3478G>A (p.Gly1160Arg)
c.3286G>A (p.Gly1096Arg)
13g.110173928C>ACA484789122COL4A1c.3477G>T (p.Pro1159=)
c.3285G>T (p.Pro1095=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.110173928C=CA2118737048COL4A1c.3477G= (p.Pro1159=)
c.3285G= (p.Pro1095=)
13g.110173928C>GCA484789123COL4A1c.3477G>C (p.Pro1159=)
c.3285G>C (p.Pro1095=)
13g.110173928C>TCA7047260COL4A1c.3477G>A (p.Pro1159=)
c.3285G>A (p.Pro1095=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110173929G>ACA256253465COL4A1c.3476C>T (p.Pro1159Leu)
c.3284C>T (p.Pro1095Leu)
 dbSNP gnomAD v4
13g.110173929G>CCA388664157COL4A1c.3476C>G (p.Pro1159Arg)
c.3284C>G (p.Pro1095Arg)
 gnomAD v4
13g.110173929G=CA2118737050COL4A1c.3476C= (p.Pro1159=)
c.3284C= (p.Pro1095=)
13g.110173929G>TCA388664158COL4A1c.3476C>A (p.Pro1159Gln)
c.3284C>A (p.Pro1095Gln)
 gnomAD v4
13g.110173929_110173930delinsAACA645573516COL4A1c.3475_3476delinsTT (p.Pro1159Leu)
c.3283_3284delinsTT (p.Pro1095Leu)
 COSMIC COSMIC
13g.110173930G>ACA388664159COL4A1c.3475C>T (p.Pro1159Ser)
c.3283C>T (p.Pro1095Ser)
13g.110173930G>CCA388664160COL4A1c.3475C>G (p.Pro1159Ala)
c.3283C>G (p.Pro1095Ala)
13g.110173930G>TCA388664161COL4A1c.3475C>A (p.Pro1159Thr)
c.3283C>A (p.Pro1095Thr)
13g.110173931G>ACA484789124COL4A1c.3474C>T (p.Ile1158=)
c.3282C>T (p.Ile1094=)
 COSMIC COSMIC
13g.110173931G>CCA388664162COL4A1c.3474C>G (p.Ile1158Met)
c.3282C>G (p.Ile1094Met)
13g.110173931G=CA2118737053COL4A1c.3474C= (p.Ile1158=)
c.3282C= (p.Ile1094=)
13g.110173931G>TCA484789125COL4A1c.3474C>A (p.Ile1158=)
c.3282C>A (p.Ile1094=)
 dbSNP gnomAD v2 gnomAD v4
13g.110173932A>CCA388664163COL4A1c.3473T>G (p.Ile1158Ser)
c.3281T>G (p.Ile1094Ser)
13g.110173932A>GCA388664164COL4A1c.3473T>C (p.Ile1158Thr)
c.3281T>C (p.Ile1094Thr)
13g.110173932A>TCA388664165COL4A1c.3473T>A (p.Ile1158Asn)
c.3281T>A (p.Ile1094Asn)
13g.110173933T>ACA388664166COL4A1c.3472A>T (p.Ile1158Phe)
c.3280A>T (p.Ile1094Phe)
13g.110173933T>CCA256253469COL4A1c.3472A>G (p.Ile1158Val)
c.3280A>G (p.Ile1094Val)
 ClinVar dbSNP
13g.110173933T>GCA388664167COL4A1c.3472A>C (p.Ile1158Leu)
c.3280A>C (p.Ile1094Leu)
13g.110173933T=CA2118737055COL4A1c.3472A= (p.Ile1158=)
c.3280A= (p.Ile1094=)
13g.110173934T>ACA484789126COL4A1c.3471A>T (p.Gly1157=)
c.3279A>T (p.Gly1093=)
13g.110173934T>CCA484789127COL4A1c.3471A>G (p.Gly1157=)
c.3279A>G (p.Gly1093=)
13g.110173934T>GCA484789128COL4A1c.3471A>C (p.Gly1157=)
c.3279A>C (p.Gly1093=)
 gnomAD v4
13g.110173935C>ACA388664168COL4A1c.3470G>T (p.Gly1157Val)
c.3278G>T (p.Gly1093Val)
13g.110173935C>GCA388664170COL4A1c.3470G>C (p.Gly1157Ala)
c.3278G>C (p.Gly1093Ala)
13g.110173935C>TCA388664169COL4A1c.3470G>A (p.Gly1157Glu)
c.3278G>A (p.Gly1093Glu)
13g.110173936C>ACA388664171COL4A1c.3469G>T (p.Gly1157Ter)
c.3277G>T (p.Gly1093Ter)
13g.110173936C>GCA388664172COL4A1c.3469G>C (p.Gly1157Arg)
c.3277G>C (p.Gly1093Arg)
13g.110173936C>TCA388664173COL4A1c.3469G>A (p.Gly1157Arg)
c.3277G>A (p.Gly1093Arg)
13g.110173937A=CA2118737057COL4A1c.3468T= (p.Asp1156=)
c.3276T= (p.Asp1092=)
13g.110173937A>CCA388664174COL4A1c.3468T>G (p.Asp1156Glu)
c.3276T>G (p.Asp1092Glu)
13g.110173937A>GCA484789129COL4A1c.3468T>C (p.Asp1156=)
c.3276T>C (p.Asp1092=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
13g.110173937A>TCA388664175COL4A1c.3468T>A (p.Asp1156Glu)
c.3276T>A (p.Asp1092Glu)
13g.110173938T>ACA388664176COL4A1c.3467A>T (p.Asp1156Val)
c.3275A>T (p.Asp1092Val)
 ClinVar
13g.110173938T>CCA388664177COL4A1c.3467A>G (p.Asp1156Gly)
c.3275A>G (p.Asp1092Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.110173938T>GCA388664178COL4A1c.3467A>C (p.Asp1156Ala)
c.3275A>C (p.Asp1092Ala)
13g.110173938T=CA2118737059COL4A1c.3467A= (p.Asp1156=)
c.3275A= (p.Asp1092=)
13g.110173939C>ACA388664179COL4A1c.3466G>T (p.Asp1156Tyr)
c.3274G>T (p.Asp1092Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.110173939C=CA2118737061COL4A1c.3466G= (p.Asp1156=)
c.3274G= (p.Asp1092=)
13g.110173939C>GCA388664180COL4A1c.3466G>C (p.Asp1156His)
c.3274G>C (p.Asp1092His)
13g.110173939C>TCA388664181COL4A1c.3466G>A (p.Asp1156Asn)
c.3274G>A (p.Asp1092Asn)
 dbSNP gnomAD v4
13g.110173940A=CA2118737063COL4A1c.3465T= (p.Ser1155=)
c.3273T= (p.Ser1091=)
13g.110173940A>CCA388664182COL4A1c.3465T>G (p.Ser1155Arg)
c.3273T>G (p.Ser1091Arg)
13g.110173940A>GCA484789130COL4A1c.3465T>C (p.Ser1155=)
c.3273T>C (p.Ser1091=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.110173940A>TCA388664183COL4A1c.3465T>A (p.Ser1155Arg)
c.3273T>A (p.Ser1091Arg)
13g.110173941C>ACA388664186COL4A1c.3464G>T (p.Ser1155Ile)
c.3272G>T (p.Ser1091Ile)
13g.110173941C>GCA388664184COL4A1c.3464G>C (p.Ser1155Thr)
c.3272G>C (p.Ser1091Thr)
13g.110173941C>TCA388664185COL4A1c.3464G>A (p.Ser1155Asn)
c.3272G>A (p.Ser1091Asn)
13g.110173942T>ACA388664187COL4A1c.3463A>T (p.Ser1155Cys)
c.3271A>T (p.Ser1091Cys)
13g.110173942T>CCA7047261COL4A1c.3463A>G (p.Ser1155Gly)
c.3271A>G (p.Ser1091Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110173942T>GCA388664188COL4A1c.3463A>C (p.Ser1155Arg)
c.3271A>C (p.Ser1091Arg)
13g.110173942T=CA2118737066COL4A1c.3463A= (p.Ser1155=)
c.3271A= (p.Ser1091=)
13g.110173943G>ACA484789131COL4A1c.3462C>T (p.Gly1154=)
c.3270C>T (p.Gly1090=)
 dbSNP
13g.110173943G>CCA484789133COL4A1c.3462C>G (p.Gly1154=)
c.3270C>G (p.Gly1090=)
 dbSNP gnomAD v2 gnomAD v4
13g.110173943G=CA2118737067COL4A1c.3462C= (p.Gly1154=)
c.3270C= (p.Gly1090=)
13g.110173943G>TCA484789132COL4A1c.3462C>A (p.Gly1154=)
c.3270C>A (p.Gly1090=)

Number of alleles fetched