Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188996436_189001956delCA916081383COL3A1c.1602_2293-342del
c.1701_2392-342del
 ClinVar
2g.188999894_189002903delCA2740096382COL3A1c.2183_2347-52del
c.2282_2446-52del
 ClinVar
2g.188999894_189002899delCA2740096383COL3A1c.2183_2347-56del
c.2282_2446-56del
 ClinVar
2g.189000730_189007456delCA913190215COL3A1c.2185-667_3157-44del
c.2284-667_3256-44del
c.2284-667_2528-598del
 ClinVar
2g.189001289_189008107delCA913190216COL3A1c.2185-108_3391del
c.2284-108_3490del
c.2284-108_2581del
 ClinVar
2g.189001432T>ACA430310919COL3A1c.2220T>A (p.Ala740=)
c.2319T>A (p.Ala773=)
2g.189001432T>CCA430310921COL3A1c.2220T>C (p.Ala740=)
c.2319T>C (p.Ala773=)
 ClinVar dbSNP
2g.189001432T>GCA430310923COL3A1c.2220T>G (p.Ala740=)
c.2319T>G (p.Ala773=)
2g.189001433G>ACA349842406COL3A1c.2221G>A (p.Gly741Ser)
c.2320G>A (p.Gly774Ser)
2g.189001433G>CCA349842407COL3A1c.2221G>C (p.Gly741Arg)
c.2320G>C (p.Gly774Arg)
2g.189001433G>TCA349842408COL3A1c.2221G>T (p.Gly741Cys)
c.2320G>T (p.Gly774Cys)
2g.189001434G>ACA349842409COL3A1c.2222G>A (p.Gly741Asp)
c.2321G>A (p.Gly774Asp)
 ClinVar gnomAD v4
2g.189001434G>CCA349842410COL3A1c.2222G>C (p.Gly741Ala)
c.2321G>C (p.Gly774Ala)
2g.189001434G>TCA349842411COL3A1c.2222G>T (p.Gly741Val)
c.2321G>T (p.Gly774Val)
2g.189001435C>ACA430310931COL3A1c.2223C>A (p.Gly741=)
c.2322C>A (p.Gly774=)
2g.189001435C=CA1315401861COL3A1c.2223C= (p.Gly741=)
c.2322C= (p.Gly774=)
2g.189001435C>GCA430310932COL3A1c.2223C>G (p.Gly741=)
c.2322C>G (p.Gly774=)
2g.189001435C>TCA430310936COL3A1c.2223C>T (p.Gly741=)
c.2322C>T (p.Gly774=)
 dbSNP
2g.189001436C>ACA349842412COL3A1c.2224C>A (p.Gln742Lys)
c.2323C>A (p.Gln775Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.189001436C=CA1315401862COL3A1c.2224C= (p.Gln742=)
c.2323C= (p.Gln775=)
2g.189001436C>GCA349842413COL3A1c.2224C>G (p.Gln742Glu)
c.2323C>G (p.Gln775Glu)
2g.189001436C>TCA349842414COL3A1c.2224C>T (p.Gln742Ter)
c.2323C>T (p.Gln775Ter)
2g.189001437A>CCA349842415COL3A1c.2225A>C (p.Gln742Pro)
c.2324A>C (p.Gln775Pro)
2g.189001437A>GCA349842416COL3A1c.2225A>G (p.Gln742Arg)
c.2324A>G (p.Gln775Arg)
2g.189001437A>TCA349842417COL3A1c.2225A>T (p.Gln742Leu)
c.2324A>T (p.Gln775Leu)
2g.189001438G>ACA430310939COL3A1c.2226G>A (p.Gln742=)
c.2325G>A (p.Gln775=)
 dbSNP
2g.189001438G>CCA349842419COL3A1c.2226G>C (p.Gln742His)
c.2325G>C (p.Gln775His)
2g.189001438G=CA1315401863COL3A1c.2226G= (p.Gln742=)
c.2325G= (p.Gln775=)
2g.189001438G>TCA349842418COL3A1c.2226G>T (p.Gln742His)
c.2325G>T (p.Gln775His)
 gnomAD v4
2g.189001439C>ACA349842420COL3A1c.2227C>A (p.Pro743Thr)
c.2326C>A (p.Pro776Thr)
2g.189001439C>GCA349842421COL3A1c.2227C>G (p.Pro743Ala)
c.2326C>G (p.Pro776Ala)
2g.189001439C>TCA349842422COL3A1c.2227C>T (p.Pro743Ser)
c.2326C>T (p.Pro776Ser)
2g.189001440delCA2753571817COL3A1c.2228del (p.Pro743LeufsTer15)
c.2327del (p.Pro776LeufsTer15)
2g.189001440C>ACA349842423COL3A1c.2228C>A (p.Pro743His)
c.2327C>A (p.Pro776His)
 dbSNP
2g.189001440C=CA1315401864COL3A1c.2228C= (p.Pro743=)
c.2327C= (p.Pro776=)
2g.189001440C>GCA349842424COL3A1c.2228C>G (p.Pro743Arg)
c.2327C>G (p.Pro776Arg)
2g.189001440C>TCA349842425COL3A1c.2228C>T (p.Pro743Leu)
c.2327C>T (p.Pro776Leu)
 gnomAD v4
2g.189001441T>ACA430310941COL3A1c.2229T>A (p.Pro743=)
c.2328T>A (p.Pro776=)
2g.189001441T>CCA430310942COL3A1c.2229T>C (p.Pro743=)
c.2328T>C (p.Pro776=)
2g.189001441T>GCA430310943COL3A1c.2229T>G (p.Pro743=)
c.2328T>G (p.Pro776=)
2g.189001442G>ACA349842426COL3A1c.2230G>A (p.Gly744Arg)
c.2329G>A (p.Gly777Arg)
2g.189001442G>CCA349842427COL3A1c.2230G>C (p.Gly744Arg)
c.2329G>C (p.Gly777Arg)
2g.189001442G>TCA349842428COL3A1c.2230G>T (p.Gly744Ter)
c.2329G>T (p.Gly777Ter)
2g.189001443G>ACA349842429COL3A1c.2231G>A (p.Gly744Glu)
c.2330G>A (p.Gly777Glu)
 ClinVar COSMIC
2g.189001443G>CCA349842430COL3A1c.2231G>C (p.Gly744Ala)
c.2330G>C (p.Gly777Ala)
2g.189001443G>TCA349842431COL3A1c.2231G>T (p.Gly744Val)
c.2330G>T (p.Gly777Val)
2g.189001444A>CCA430310950COL3A1c.2232A>C (p.Gly744=)
c.2331A>C (p.Gly777=)
2g.189001444A>GCA430310948COL3A1c.2232A>G (p.Gly744=)
c.2331A>G (p.Gly777=)
2g.189001444A>TCA430310949COL3A1c.2232A>T (p.Gly744=)
c.2331A>T (p.Gly777=)
2g.189001445G>ACA349842433COL3A1c.2233G>A (p.Asp745Asn)
c.2332G>A (p.Asp778Asn)
 gnomAD v4
2g.189001445G>CCA62555615COL3A1c.2233G>C (p.Asp745His)
c.2332G>C (p.Asp778His)
 dbSNP
2g.189001445G=CA1315401865COL3A1c.2233G= (p.Asp745=)
c.2332G= (p.Asp778=)
2g.189001445G>TCA349842432COL3A1c.2233G>T (p.Asp745Tyr)
c.2332G>T (p.Asp778Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.189001446A>CCA349842434COL3A1c.2234A>C (p.Asp745Ala)
c.2333A>C (p.Asp778Ala)
2g.189001446A>GCA349842436COL3A1c.2234A>G (p.Asp745Gly)
c.2333A>G (p.Asp778Gly)
2g.189001446A>TCA349842435COL3A1c.2234A>T (p.Asp745Val)
c.2333A>T (p.Asp778Val)
2g.189001447T>ACA349842437COL3A1c.2235T>A (p.Asp745Glu)
c.2334T>A (p.Asp778Glu)
2g.189001447T>CCA430310955COL3A1c.2235T>C (p.Asp745=)
c.2334T>C (p.Asp778=)
2g.189001447T>GCA349842438COL3A1c.2235T>G (p.Asp745Glu)
c.2334T>G (p.Asp778Glu)
 dbSNP
2g.189001447T=CA1315401866COL3A1c.2235T= (p.Asp745=)
c.2334T= (p.Asp778=)
2g.189001448A>CCA349842439COL3A1c.2236A>C (p.Lys746Gln)
c.2335A>C (p.Lys779Gln)
 gnomAD v4
2g.189001448A>GCA349842440COL3A1c.2236A>G (p.Lys746Glu)
c.2335A>G (p.Lys779Glu)
2g.189001448A>TCA349842441COL3A1c.2236A>T (p.Lys746Ter)
c.2335A>T (p.Lys779Ter)
2g.189001449A>CCA349842442COL3A1c.2237A>C (p.Lys746Thr)
c.2336A>C (p.Lys779Thr)
2g.189001449A>GCA349842443COL3A1c.2237A>G (p.Lys746Arg)
c.2336A>G (p.Lys779Arg)
2g.189001449A>TCA349842444COL3A1c.2237A>T (p.Lys746Met)
c.2336A>T (p.Lys779Met)
2g.189001450G>ACA005337COL3A1c.2238G>A (p.Lys746=)
c.2337G>A (p.Lys779=)
 ClinVar dbSNP
2g.189001450G>CCA349842445COL3A1c.2238G>C (p.Lys746Asn)
c.2337G>C (p.Lys779Asn)
 ClinVar
2g.189001450G=CA1315401867COL3A1c.2238G= (p.Lys746=)
c.2337G= (p.Lys779=)
2g.189001450G>TCA349842446COL3A1c.2238G>T (p.Lys746Asn)
c.2337G>T (p.Lys779Asn)
2g.189001451G>ACA005320COL3A1c.2238+1G>A (n.2238+1G>A)
c.2337+1G>A (n.2337+1G>A)
 ClinVar dbSNP
2g.189001451G>CCA349842448COL3A1c.2238+1G>C (n.2238+1G>C)
c.2337+1G>C (n.2337+1G>C)
2g.189001451G=CA1315401868COL3A1c.2238+1G= (n.2238+1G=)
c.2337+1G= (n.2337+1G=)
2g.189001451G>TCA349842447COL3A1c.2238+1G>T (n.2238+1G>T)
c.2337+1G>T (n.2337+1G>T)
2g.189001452T>ACA349842449COL3A1c.2238+2T>A (n.2238+2T>A)
c.2337+2T>A (n.2337+2T>A)
2g.189001452T>CCA005327COL3A1c.2238+2T>C (n.2238+2T>C)
c.2337+2T>C (n.2337+2T>C)
 ClinVar dbSNP
2g.189001452T>GCA349842450COL3A1c.2238+2T>G (n.2238+2T>G)
c.2337+2T>G (n.2337+2T>G)
2g.189001452T=CA1315401869COL3A1c.2238+2T= (n.2238+2T=)
c.2337+2T= (n.2337+2T=)
2g.189001454A=CA1315401870COL3A1c.2238+4A= (n.2238+4A=)
c.2337+4A= (n.2337+4A=)
2g.189001454A>GCA075218COL3A1c.2238+4A>G (n.2238+4A>G)
c.2337+4A>G (n.2337+4A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189001455C>TCA2662309366COL3A1c.2238+5C>T (n.2238+5C>T)
c.2337+5C>T (n.2337+5C>T)
 gnomAD v4
2g.189001456C>ACA538448789COL3A1c.2238+6C>A (n.2238+6C>A)
c.2337+6C>A (n.2337+6C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189001456C=CA1315401871COL3A1c.2238+6C= (n.2238+6C=)
c.2337+6C= (n.2337+6C=)
2g.189001456C>TCA2662309367COL3A1c.2238+6C>T (n.2238+6C>T)
c.2337+6C>T (n.2337+6C>T)
 gnomAD v4
2g.189001457C>ACA16610550COL3A1c.2238+7C>A (n.2238+7C>A)
c.2337+7C>A (n.2337+7C>A)
 ClinVar dbSNP gnomAD v4
2g.189001457C=CA1315401872COL3A1c.2238+7C= (n.2238+7C=)
c.2337+7C= (n.2337+7C=)
2g.189001461A=CA1315401873COL3A1c.2238+11A= (n.2238+11A=)
c.2337+11A= (n.2337+11A=)
2g.189001461A>CCA075205COL3A1c.2238+11A>C (n.2238+11A>C)
c.2337+11A>C (n.2337+11A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001465_189001467delCA2577185693COL3A1c.2238+15_2238+17del (n.2238+15_2238+17del)
c.2337+15_2337+17del (n.2337+15_2337+17del)
2g.189001463A=CA1315401874COL3A1c.2238+13A= (n.2238+13A=)
c.2337+13A= (n.2337+13A=)
2g.189001463A>CCA075206COL3A1c.2238+13A>C (n.2238+13A>C)
c.2337+13A>C (n.2337+13A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189001463A>GCA1040410543COL3A1c.2238+13A>G (n.2238+13A>G)
c.2337+13A>G (n.2337+13A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189001464C>ACA2662309368COL3A1c.2238+14C>A (n.2238+14C>A)
c.2337+14C>A (n.2337+14C>A)
 gnomAD v4
2g.189001464C=CA1315401875COL3A1c.2238+14C= (n.2238+14C=)
c.2337+14C= (n.2337+14C=)
2g.189001464C>GCA538448790COL3A1c.2238+14C>G (n.2238+14C>G)
c.2337+14C>G (n.2337+14C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189001465T>CCA2523645401COL3A1c.2238+15T>C (n.2238+15T>C)
c.2337+15T>C (n.2337+15T>C)
 ClinVar gnomAD v4
2g.189001466A=CA1315401876COL3A1c.2238+16A= (n.2238+16A=)
c.2337+16A= (n.2337+16A=)
2g.189001466A>GCA075209COL3A1c.2238+16A>G (n.2238+16A>G)
c.2337+16A>G (n.2337+16A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001467C>TCA2662309369COL3A1c.2238+17C>T (n.2238+17C>T)
c.2337+17C>T (n.2337+17C>T)
 dbSNP gnomAD v4
2g.189001468C>ACA1315401878COL3A1c.2238+18C>A (n.2238+18C>A)
c.2337+18C>A (n.2337+18C>A)
 dbSNP
2g.189001468C=CA1315401877COL3A1c.2238+18C= (n.2238+18C=)
c.2337+18C= (n.2337+18C=)
2g.189001468C>GCA1315401879COL3A1c.2238+18C>G (n.2238+18C>G)
c.2337+18C>G (n.2337+18C>G)
 dbSNP gnomAD v4
2g.189001469T>ACA647397741COL3A1c.2238+19T>A (n.2238+19T>A)
c.2337+19T>A (n.2337+19T>A)
 COSMIC
2g.189001469T>GCA538448791COL3A1c.2238+19T>G (n.2238+19T>G)
c.2337+19T>G (n.2337+19T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189001469T=CA1315401880COL3A1c.2238+19T= (n.2238+19T=)
c.2337+19T= (n.2337+19T=)
2g.189001472A>GCA2525986959COL3A1c.2238+22A>G (n.2238+22A>G)
c.2337+22A>G (n.2337+22A>G)
2g.189001473T>ACA075212COL3A1c.2238+23T>A (n.2238+23T>A)
c.2337+23T>A (n.2337+23T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001473T>CCA1315401883COL3A1c.2238+23T>C (n.2238+23T>C)
c.2337+23T>C (n.2337+23T>C)
 dbSNP
2g.189001473T>GCA1315401881COL3A1c.2238+23T>G (n.2238+23T>G)
c.2337+23T>G (n.2337+23T>G)
 dbSNP gnomAD v4
2g.189001473T=CA1315401882COL3A1c.2238+23T= (n.2238+23T=)
c.2337+23T= (n.2337+23T=)
2g.189001474A=CA1315401884COL3A1c.2238+24A= (n.2238+24A=)
c.2337+24A= (n.2337+24A=)
2g.189001474A>GCA2662309370COL3A1c.2238+24A>G (n.2238+24A>G)
c.2337+24A>G (n.2337+24A>G)
 gnomAD v4
2g.189001474A>TCA430310961COL3A1c.2238+24A>T (n.2238+24A>T)
c.2337+24A>T (n.2337+24A>T)
 dbSNP gnomAD v4
2g.189001476A=CA1315401885COL3A1c.2238+26A= (n.2238+26A=)
c.2337+26A= (n.2337+26A=)
2g.189001476A>GCA075213COL3A1c.2238+26A>G (n.2238+26A>G)
c.2337+26A>G (n.2337+26A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001477A=CA1315401886COL3A1c.2238+27A= (n.2238+27A=)
c.2337+27A= (n.2337+27A=)
2g.189001477A>TCA1315401887COL3A1c.2238+27A>T (n.2238+27A>T)
c.2337+27A>T (n.2337+27A>T)
 dbSNP
2g.189001479A=CA1315401889COL3A1c.2238+29A= (n.2238+29A=)
c.2337+29A= (n.2337+29A=)
2g.189001479A>GCA1315401888COL3A1c.2238+29A>G (n.2238+29A>G)
c.2337+29A>G (n.2337+29A>G)
 dbSNP gnomAD v4
2g.189001482A>GCA2662309371COL3A1c.2238+32A>G (n.2238+32A>G)
c.2337+32A>G (n.2337+32A>G)
 gnomAD v4
2g.189001485A=CA1315401890COL3A1c.2238+35A= (n.2238+35A=)
c.2337+35A= (n.2337+35A=)
2g.189001485A>GCA1315401891COL3A1c.2238+35A>G (n.2238+35A>G)
c.2337+35A>G (n.2337+35A>G)
 dbSNP
2g.189001487G>ACA075215COL3A1c.2238+37G>A (n.2238+37G>A)
c.2337+37G>A (n.2337+37G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001487G>CCA1315401893COL3A1c.2238+37G>C (n.2238+37G>C)
c.2337+37G>C (n.2337+37G>C)
 dbSNP
2g.189001487G=CA1315401892COL3A1c.2238+37G= (n.2238+37G=)
c.2337+37G= (n.2337+37G=)
2g.189001487G>TCA762201767COL3A1c.2238+37G>T (n.2238+37G>T)
c.2337+37G>T (n.2337+37G>T)
 dbSNP
2g.189001489C=CA1315401894COL3A1c.2238+39C= (n.2238+39C=)
c.2337+39C= (n.2337+39C=)
2g.189001489C>TCA762201771COL3A1c.2238+39C>T (n.2238+39C>T)
c.2337+39C>T (n.2337+39C>T)
 dbSNP gnomAD v4
2g.189001490T>ACA2662309372COL3A1c.2238+40T>A (n.2238+40T>A)
c.2337+40T>A (n.2337+40T>A)
 gnomAD v4
2g.189001493C=CA1315401895COL3A1c.2239-43C= (n.2239-43C=)
c.2338-43C= (n.2338-43C=)
2g.189001493C>GCA075216COL3A1c.2239-43C>G (n.2239-43C>G)
c.2338-43C>G (n.2338-43C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001493C>TCA538448792COL3A1c.2239-43C>T (n.2239-43C>T)
c.2338-43C>T (n.2338-43C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189001494T>CCA1315401896COL3A1c.2239-42T>C (n.2239-42T>C)
c.2338-42T>C (n.2338-42T>C)
 dbSNP
2g.189001494T=CA1315401897COL3A1c.2239-42T= (n.2239-42T=)
c.2338-42T= (n.2338-42T=)
2g.189001495C=CA1315401898COL3A1c.2239-41C= (n.2239-41C=)
c.2338-41C= (n.2338-41C=)
2g.189001495C>GCA538448793COL3A1c.2239-41C>G (n.2239-41C>G)
c.2338-41C>G (n.2338-41C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189001495C>TCA62555638COL3A1c.2239-41C>T (n.2239-41C>T)
c.2338-41C>T (n.2338-41C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189001499delCA2662309373COL3A1c.2239-37del (n.2239-37del)
c.2338-37del (n.2338-37del)
 gnomAD v4
2g.189001497T>CCA2662309374COL3A1c.2239-39T>C (n.2239-39T>C)
c.2338-39T>C (n.2338-39T>C)
 gnomAD v4
2g.189001499T>CCA2577185694COL3A1c.2239-37T>C (n.2239-37T>C)
c.2338-37T>C (n.2338-37T>C)
2g.189001499T>GCA2662309375COL3A1c.2239-37T>G (n.2239-37T>G)
c.2338-37T>G (n.2338-37T>G)
 gnomAD v4
2g.189001500G>TCA2577185695COL3A1c.2239-36G>T (n.2239-36G>T)
c.2338-36G>T (n.2338-36G>T)
2g.189001501G>ACA62555640COL3A1c.2239-35G>A (n.2239-35G>A)
c.2338-35G>A (n.2338-35G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189001501G>CCA075231COL3A1c.2239-35G>C (n.2239-35G>C)
c.2338-35G>C (n.2338-35G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001501G=CA1315401899COL3A1c.2239-35G= (n.2239-35G=)
c.2338-35G= (n.2338-35G=)
2g.189001505_189006012delCA913189729COL3A1c.2239-31_2941-194del
c.2338-31_3040-194del
c.2338-31_2528-2042del
 ClinVar
2g.189001503T>CCA1315401901COL3A1c.2239-33T>C (n.2239-33T>C)
c.2338-33T>C (n.2338-33T>C)
 dbSNP
2g.189001503T=CA1315401900COL3A1c.2239-33T= (n.2239-33T=)
c.2338-33T= (n.2338-33T=)
2g.189001505C=CA1315401902COL3A1c.2239-31C= (n.2239-31C=)
c.2338-31C= (n.2338-31C=)
2g.189001505C>GCA075228COL3A1c.2239-31C>G (n.2239-31C>G)
c.2338-31C>G (n.2338-31C>G)
 dbSNP ExAC gnomAD v4
2g.189001508G>CCA62555644COL3A1c.2239-28G>C (n.2239-28G>C)
c.2338-28G>C (n.2338-28G>C)
 dbSNP gnomAD v4
2g.189001508G=CA1315401903COL3A1c.2239-28G= (n.2239-28G=)
c.2338-28G= (n.2338-28G=)
2g.189001509A=CA1315401904COL3A1c.2239-27A= (n.2239-27A=)
c.2338-27A= (n.2338-27A=)
2g.189001509A>GCA538448794COL3A1c.2239-27A>G (n.2239-27A>G)
c.2338-27A>G (n.2338-27A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189001510C=CA1315401905COL3A1c.2239-26C= (n.2239-26C=)
c.2338-26C= (n.2338-26C=)
2g.189001510C>TCA075225COL3A1c.2239-26C>T (n.2239-26C>T)
c.2338-26C>T (n.2338-26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001511A>CCA2662309376COL3A1c.2239-25A>C (n.2239-25A>C)
c.2338-25A>C (n.2338-25A>C)
 gnomAD v4
2g.189001514G>CCA62555645COL3A1c.2239-22G>C (n.2239-22G>C)
c.2338-22G>C (n.2338-22G>C)
 dbSNP
2g.189001514G=CA1315401906COL3A1c.2239-22G= (n.2239-22G=)
c.2338-22G= (n.2338-22G=)
2g.189001515A=CA1315401907COL3A1c.2239-21A= (n.2239-21A=)
c.2338-21A= (n.2338-21A=)
2g.189001515A>GCA2662309377COL3A1c.2239-21A>G (n.2239-21A>G)
c.2338-21A>G (n.2338-21A>G)
 gnomAD v4
2g.189001515A>TCA075224COL3A1c.2239-21A>T (n.2239-21A>T)
c.2338-21A>T (n.2338-21A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189001517A>GCA2577185696COL3A1c.2239-19A>G (n.2239-19A>G)
c.2338-19A>G (n.2338-19A>G)
2g.189001518T>CCA538448795COL3A1c.2239-18T>C (n.2239-18T>C)
c.2338-18T>C (n.2338-18T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189001518T=CA1315401908COL3A1c.2239-18T= (n.2239-18T=)
c.2338-18T= (n.2338-18T=)
2g.189001519G>ACA762201799COL3A1c.2239-17G>A (n.2239-17G>A)
c.2338-17G>A (n.2338-17G>A)
 dbSNP
2g.189001519G=CA1315401909COL3A1c.2239-17G= (n.2239-17G=)
c.2338-17G= (n.2338-17G=)
2g.189001520G>TCA2662309378COL3A1c.2239-16G>T (n.2239-16G>T)
c.2338-16G>T (n.2338-16G>T)
 gnomAD v4
2g.189001523T>CCA2662309379COL3A1c.2239-13T>C (n.2239-13T>C)
c.2338-13T>C (n.2338-13T>C)
 gnomAD v4
2g.189001524C=CA1315401910COL3A1c.2239-12C= (n.2239-12C=)
c.2338-12C= (n.2338-12C=)
2g.189001524C>GCA2606991804COL3A1c.2239-12C>G (n.2239-12C>G)
c.2338-12C>G (n.2338-12C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189001524C>TCA075221COL3A1c.2239-12C>T (n.2239-12C>T)
c.2338-12C>T (n.2338-12C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189001527T>CCA2662309380COL3A1c.2239-9T>C (n.2239-9T>C)
c.2338-9T>C (n.2338-9T>C)
 gnomAD v4
2g.189001529T>CCA913187985COL3A1c.2239-7T>C (n.2239-7T>C)
c.2338-7T>C (n.2338-7T>C)
 ClinVar dbSNP
2g.189001529T=CA1315401911COL3A1c.2239-7T= (n.2239-7T=)
c.2338-7T= (n.2338-7T=)
2g.189001531T>GCA2662309381COL3A1c.2239-5T>G (n.2239-5T>G)
c.2338-5T>G (n.2338-5T>G)
 gnomAD v4
2g.189001532C=CA1315401912COL3A1c.2239-4C= (n.2239-4C=)
c.2338-4C= (n.2338-4C=)
2g.189001532C>TCA538448796COL3A1c.2239-4C>T (n.2239-4C>T)
c.2338-4C>T (n.2338-4C>T)
 dbSNP gnomAD v2

Number of alleles fetched