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.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
2g.189001533C=CA1315401913COL3A1c.2239-3C= (n.2239-3C=)
c.2338-3C= (n.2338-3C=)
2g.189001533C>TCA538448797COL3A1c.2239-3C>T (n.2239-3C>T)
c.2338-3C>T (n.2338-3C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189001534A=CA1315401914COL3A1c.2239-2A= (n.2239-2A=)
c.2338-2A= (n.2338-2A=)
2g.189001534A>CCA349842451COL3A1c.2239-2A>C (n.2239-2A>C)
c.2338-2A>C (n.2338-2A>C)
2g.189001534A>GCA005344COL3A1c.2239-2A>G (n.2239-2A>G)
c.2338-2A>G (n.2338-2A>G)
 ClinVar dbSNP
2g.189001534A>TCA349842452COL3A1c.2239-2A>T (n.2239-2A>T)
c.2338-2A>T (n.2338-2A>T)
2g.189001535G>ACA349842453COL3A1c.2239-1G>A (n.2239-1G>A)
c.2338-1G>A (n.2338-1G>A)
 COSMIC
2g.189001535G>CCA349842454COL3A1c.2239-1G>C (n.2239-1G>C)
c.2338-1G>C (n.2338-1G>C)
2g.189001535G>TCA349842455COL3A1c.2239-1G>T (n.2239-1G>T)
c.2338-1G>T (n.2338-1G>T)
2g.189001536G>ACA349842456COL3A1c.2239G>A (p.Gly747Ser)
c.2338G>A (p.Gly780Ser)
2g.189001536G>CCA349842457COL3A1c.2239G>C (p.Gly747Arg)
c.2338G>C (p.Gly780Arg)
2g.189001536G>TCA349842458COL3A1c.2239G>T (p.Gly747Cys)
c.2338G>T (p.Gly780Cys)
 COSMIC COSMIC
2g.189001537G>ACA349842459COL3A1c.2240G>A (p.Gly747Asp)
c.2339G>A (p.Gly780Asp)
2g.189001537G>CCA349842460COL3A1c.2240G>C (p.Gly747Ala)
c.2339G>C (p.Gly780Ala)
2g.189001537G>TCA349842461COL3A1c.2240G>T (p.Gly747Val)
c.2339G>T (p.Gly780Val)
2g.189001538T>ACA430310975COL3A1c.2241T>A (p.Gly747=)
c.2340T>A (p.Gly780=)
2g.189001538T>CCA430310976COL3A1c.2241T>C (p.Gly747=)
c.2340T>C (p.Gly780=)
2g.189001538T>GCA430310977COL3A1c.2241T>G (p.Gly747=)
c.2340T>G (p.Gly780=)
 dbSNP
2g.189001538T=CA1315401915COL3A1c.2241T= (p.Gly747=)
c.2340T= (p.Gly780=)
2g.189001539G>ACA075235COL3A1c.2242G>A (p.Glu748Lys)
c.2341G>A (p.Glu781Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189001539G>CCA349842462COL3A1c.2242G>C (p.Glu748Gln)
c.2341G>C (p.Glu781Gln)
2g.189001539G=CA1315401916COL3A1c.2242G= (p.Glu748=)
c.2341G= (p.Glu781=)
2g.189001539G>TCA349842463COL3A1c.2242G>T (p.Glu748Ter)
c.2341G>T (p.Glu781Ter)
2g.189001540A>CCA349842464COL3A1c.2243A>C (p.Glu748Ala)
c.2342A>C (p.Glu781Ala)
2g.189001540A>GCA349842465COL3A1c.2243A>G (p.Glu748Gly)
c.2342A>G (p.Glu781Gly)
2g.189001540A>TCA349842466COL3A1c.2243A>T (p.Glu748Val)
c.2342A>T (p.Glu781Val)
2g.189001541A=CA1315401917COL3A1c.2244A= (p.Glu748=)
c.2343A= (p.Glu781=)
2g.189001541A>CCA349842467COL3A1c.2244A>C (p.Glu748Asp)
c.2343A>C (p.Glu781Asp)
2g.189001541A>GCA62555659COL3A1c.2244A>G (p.Glu748=)
c.2343A>G (p.Glu781=)
 dbSNP gnomAD v4
2g.189001541A>TCA349842468COL3A1c.2244A>T (p.Glu748Asp)
c.2343A>T (p.Glu781Asp)
2g.189001542G>ACA349842469COL3A1c.2245G>A (p.Gly749Ser)
c.2344G>A (p.Gly782Ser)
 ClinVar
2g.189001542G>CCA349842470COL3A1c.2245G>C (p.Gly749Arg)
c.2344G>C (p.Gly782Arg)
2g.189001542G>TCA349842471COL3A1c.2245G>T (p.Gly749Cys)
c.2344G>T (p.Gly782Cys)
2g.189001543G>ACA349842472COL3A1c.2246G>A (p.Gly749Asp)
c.2345G>A (p.Gly782Asp)
2g.189001543G>CCA349842473COL3A1c.2246G>C (p.Gly749Ala)
c.2345G>C (p.Gly782Ala)
 ClinVar dbSNP
2g.189001543G>TCA349842474COL3A1c.2246G>T (p.Gly749Val)
c.2345G>T (p.Gly782Val)
 gnomAD v4
2g.189001544T>ACA430310988COL3A1c.2247T>A (p.Gly749=)
c.2346T>A (p.Gly782=)
2g.189001544T>CCA430310985COL3A1c.2247T>C (p.Gly749=)
c.2346T>C (p.Gly782=)
2g.189001544T>GCA430310986COL3A1c.2247T>G (p.Gly749=)
c.2346T>G (p.Gly782=)
 dbSNP
2g.189001544T=CA1315401918COL3A1c.2247T= (p.Gly749=)
c.2346T= (p.Gly782=)
2g.189001545G>ACA349842476COL3A1c.2248G>A (p.Gly750Ser)
c.2347G>A (p.Gly783Ser)
2g.189001545G>CCA349842477COL3A1c.2248G>C (p.Gly750Arg)
c.2347G>C (p.Gly783Arg)
2g.189001545G>TCA349842475COL3A1c.2248G>T (p.Gly750Cys)
c.2347G>T (p.Gly783Cys)
2g.189001546G>ACA349842479COL3A1c.2249G>A (p.Gly750Asp)
c.2348G>A (p.Gly783Asp)
2g.189001546G>CCA349842478COL3A1c.2249G>C (p.Gly750Ala)
c.2348G>C (p.Gly783Ala)
2g.189001546G>TCA349842480COL3A1c.2249G>T (p.Gly750Val)
c.2348G>T (p.Gly783Val)
2g.189001547T>ACA430310991COL3A1c.2250T>A (p.Gly750=)
c.2349T>A (p.Gly783=)
2g.189001547T>CCA430310993COL3A1c.2250T>C (p.Gly750=)
c.2349T>C (p.Gly783=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189001547T>GCA430310990COL3A1c.2250T>G (p.Gly750=)
c.2349T>G (p.Gly783=)
2g.189001547T=CA1315401919COL3A1c.2250T= (p.Gly750=)
c.2349T= (p.Gly783=)
2g.189001548G>ACA349842481COL3A1c.2251G>A (p.Ala751Thr)
c.2350G>A (p.Ala784Thr)
 ClinVar gnomAD v4
2g.189001548G>CCA349842483COL3A1c.2251G>C (p.Ala751Pro)
c.2350G>C (p.Ala784Pro)
2g.189001548G>TCA349842482COL3A1c.2251G>T (p.Ala751Ser)
c.2350G>T (p.Ala784Ser)
2g.189001549C>ACA349842484COL3A1c.2252C>A (p.Ala751Asp)
c.2351C>A (p.Ala784Asp)
 ClinVar dbSNP
2g.189001549C=CA1315401920COL3A1c.2252C= (p.Ala751=)
c.2351C= (p.Ala784=)
2g.189001549C>GCA349842485COL3A1c.2252C>G (p.Ala751Gly)
c.2351C>G (p.Ala784Gly)
2g.189001549C>TCA075238COL3A1c.2252C>T (p.Ala751Val)
c.2351C>T (p.Ala784Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001553dupCA2753571818COL3A1c.2256dup (p.Gly753ArgfsTer11)
c.2355dup (p.Gly786ArgfsTer11)
2g.189001553delCA430310998COL3A1c.2256del (p.Gly753AspfsTer5)
c.2355del (p.Gly786AspfsTer5)
 COSMIC COSMIC
2g.189001550C>ACA430311000COL3A1c.2253C>A (p.Ala751=)
c.2352C>A (p.Ala784=)
2g.189001550C=CA1315401921COL3A1c.2253C= (p.Ala751=)
c.2352C= (p.Ala784=)
2g.189001550C>GCA430311002COL3A1c.2253C>G (p.Ala751=)
c.2352C>G (p.Ala784=)
2g.189001550C>TCA430311004COL3A1c.2253C>T (p.Ala751=)
c.2352C>T (p.Ala784=)
 dbSNP gnomAD v4
2g.189001551C>ACA349842486COL3A1c.2254C>A (p.Pro752Thr)
c.2353C>A (p.Pro785Thr)
2g.189001551C=CA1315401922COL3A1c.2254C= (p.Pro752=)
c.2353C= (p.Pro785=)
2g.189001551C>GCA349842487COL3A1c.2254C>G (p.Pro752Ala)
c.2353C>G (p.Pro785Ala)
 gnomAD v4
2g.189001551C>TCA349842488COL3A1c.2254C>T (p.Pro752Ser)
c.2353C>T (p.Pro785Ser)
 ClinVar dbSNP
2g.189001552C>ACA349842489COL3A1c.2255C>A (p.Pro752His)
c.2354C>A (p.Pro785His)
2g.189001552C>GCA349842490COL3A1c.2255C>G (p.Pro752Arg)
c.2354C>G (p.Pro785Arg)
2g.189001552C>TCA349842491COL3A1c.2255C>T (p.Pro752Leu)
c.2354C>T (p.Pro785Leu)
2g.189001553C>ACA430311007COL3A1c.2256C>A (p.Pro752=)
c.2355C>A (p.Pro785=)
 ClinVar dbSNP
2g.189001553C=CA1315401923COL3A1c.2256C= (p.Pro752=)
c.2355C= (p.Pro785=)
2g.189001553C>GCA075241COL3A1c.2256C>G (p.Pro752=)
c.2355C>G (p.Pro785=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001553C>TCA075245COL3A1c.2256C>T (p.Pro752=)
c.2355C>T (p.Pro785=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001554G>ACA005350COL3A1c.2257G>A (p.Gly753Arg)
c.2356G>A (p.Gly786Arg)
 ClinVar dbSNP
2g.189001554G>CCA349842493COL3A1c.2257G>C (p.Gly753Arg)
c.2356G>C (p.Gly786Arg)
2g.189001554G=CA1315401924COL3A1c.2257G= (p.Gly753=)
c.2356G= (p.Gly786=)
2g.189001554G>TCA349842492COL3A1c.2257G>T (p.Gly753Ter)
c.2356G>T (p.Gly786Ter)

Number of alleles fetched