Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.189001505_189006012delCA913189729COL3A1c.2239-31_2941-194del
c.2338-31_3040-194del
c.2338-31_2528-2042del
 ClinVar
2g.189002327A>CCA430311250COL3A1c.2322A>C (p.Gly774=)
c.2421A>C (p.Gly807=)
2g.189002327A>GCA430311252COL3A1c.2322A>G (p.Gly774=)
c.2421A>G (p.Gly807=)
2g.189002327A>TCA430311254COL3A1c.2322A>T (p.Gly774=)
c.2421A>T (p.Gly807=)
2g.189002328C>ACA349842633COL3A1c.2323C>A (p.Pro775Thr)
c.2422C>A (p.Pro808Thr)
 dbSNP
2g.189002328C=CA1315402260COL3A1c.2323C= (p.Pro775=)
c.2422C= (p.Pro808=)
2g.189002328C>GCA349842634COL3A1c.2323C>G (p.Pro775Ala)
c.2422C>G (p.Pro808Ala)
2g.189002328C>TCA349842635COL3A1c.2323C>T (p.Pro775Ser)
c.2422C>T (p.Pro808Ser)
2g.189002329C>ACA349842638COL3A1c.2324C>A (p.Pro775His)
c.2423C>A (p.Pro808His)
2g.189002329C>GCA349842637COL3A1c.2324C>G (p.Pro775Arg)
c.2423C>G (p.Pro808Arg)
2g.189002329C>TCA349842636COL3A1c.2324C>T (p.Pro775Leu)
c.2423C>T (p.Pro808Leu)
 gnomAD v4
2g.189002330T>ACA430311256COL3A1c.2325T>A (p.Pro775=)
c.2424T>A (p.Pro808=)
2g.189002330T>CCA430311257COL3A1c.2325T>C (p.Pro775=)
c.2424T>C (p.Pro808=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189002330T>GCA430311258COL3A1c.2325T>G (p.Pro775=)
c.2424T>G (p.Pro808=)
2g.189002330T=CA1315402261COL3A1c.2325T= (p.Pro775=)
c.2424T= (p.Pro808=)
2g.189002331G>ACA349842639COL3A1c.2326G>A (p.Ala776Thr)
c.2425G>A (p.Ala809Thr)
2g.189002331G>CCA349842640COL3A1c.2326G>C (p.Ala776Pro)
c.2425G>C (p.Ala809Pro)
2g.189002331G=CA1315402262COL3A1c.2326G= (p.Ala776=)
c.2425G= (p.Ala809=)
2g.189002331G>TCA075321COL3A1c.2326G>T (p.Ala776Ser)
c.2425G>T (p.Ala809Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189002332C>ACA349842641COL3A1c.2327C>A (p.Ala776Asp)
c.2426C>A (p.Ala809Asp)
2g.189002332C>GCA349842642COL3A1c.2327C>G (p.Ala776Gly)
c.2426C>G (p.Ala809Gly)
2g.189002332C>TCA349842643COL3A1c.2327C>T (p.Ala776Val)
c.2426C>T (p.Ala809Val)
2g.189002333T>ACA430311264COL3A1c.2328T>A (p.Ala776=)
c.2427T>A (p.Ala809=)
2g.189002333T>CCA430311263COL3A1c.2328T>C (p.Ala776=)
c.2427T>C (p.Ala809=)
2g.189002333T>GCA430311262COL3A1c.2328T>G (p.Ala776=)
c.2427T>G (p.Ala809=)
2g.189002334G>ACA349842646COL3A1c.2329G>A (p.Gly777Ser)
c.2428G>A (p.Gly810Ser)
2g.189002334G>CCA349842645COL3A1c.2329G>C (p.Gly777Arg)
c.2428G>C (p.Gly810Arg)
2g.189002334G=CA1315402263COL3A1c.2329G= (p.Gly777=)
c.2428G= (p.Gly810=)
2g.189002334G>TCA349842644COL3A1c.2329G>T (p.Gly777Cys)
c.2428G>T (p.Gly810Cys)
 dbSNP
2g.189002335G>ACA349842647COL3A1c.2330G>A (p.Gly777Asp)
c.2429G>A (p.Gly810Asp)
2g.189002335G>CCA349842648COL3A1c.2330G>C (p.Gly777Ala)
c.2429G>C (p.Gly810Ala)
2g.189002335G>TCA349842649COL3A1c.2330G>T (p.Gly777Val)
c.2429G>T (p.Gly810Val)
2g.189002336T>ACA430311268COL3A1c.2331T>A (p.Gly777=)
c.2430T>A (p.Gly810=)
2g.189002336T>CCA430311269COL3A1c.2331T>C (p.Gly777=)
c.2430T>C (p.Gly810=)
 gnomAD v4 COSMIC COSMIC
2g.189002336T>GCA430311270COL3A1c.2331T>G (p.Gly777=)
c.2430T>G (p.Gly810=)
2g.189002337T>ACA349842650COL3A1c.2332T>A (p.Phe778Ile)
c.2431T>A (p.Phe811Ile)
2g.189002337T>CCA349842651COL3A1c.2332T>C (p.Phe778Leu)
c.2431T>C (p.Phe811Leu)
2g.189002337T>GCA349842652COL3A1c.2332T>G (p.Phe778Val)
c.2431T>G (p.Phe811Val)
2g.189002338T>ACA349842653COL3A1c.2333T>A (p.Phe778Tyr)
c.2432T>A (p.Phe811Tyr)
2g.189002338T>CCA349842655COL3A1c.2333T>C (p.Phe778Ser)
c.2432T>C (p.Phe811Ser)
2g.189002338T>GCA349842654COL3A1c.2333T>G (p.Phe778Cys)
c.2432T>G (p.Phe811Cys)
2g.189002339C>ACA349842656COL3A1c.2334C>A (p.Phe778Leu)
c.2433C>A (p.Phe811Leu)
2g.189002339C=CA1315402264COL3A1c.2334C= (p.Phe778=)
c.2433C= (p.Phe811=)
2g.189002339C>GCA349842657COL3A1c.2334C>G (p.Phe778Leu)
c.2433C>G (p.Phe811Leu)
2g.189002339C>TCA430311274COL3A1c.2334C>T (p.Phe778=)
c.2433C>T (p.Phe811=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.189002340C>ACA349842658COL3A1c.2335C>A (p.Pro779Thr)
c.2434C>A (p.Pro812Thr)
 gnomAD v4
2g.189002340C>GCA349842659COL3A1c.2335C>G (p.Pro779Ala)
c.2434C>G (p.Pro812Ala)
2g.189002340C>TCA349842660COL3A1c.2335C>T (p.Pro779Ser)
c.2434C>T (p.Pro812Ser)
2g.189002341C>ACA349842661COL3A1c.2336C>A (p.Pro779His)
c.2435C>A (p.Pro812His)
2g.189002341C>GCA349842662COL3A1c.2336C>G (p.Pro779Arg)
c.2435C>G (p.Pro812Arg)
2g.189002341C>TCA349842663COL3A1c.2336C>T (p.Pro779Leu)
c.2435C>T (p.Pro812Leu)
2g.189002342T>ACA430311278COL3A1c.2337T>A (p.Pro779=)
c.2436T>A (p.Pro812=)
2g.189002342T>CCA430311279COL3A1c.2337T>C (p.Pro779=)
c.2436T>C (p.Pro812=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189002342T>GCA430311280COL3A1c.2337T>G (p.Pro779=)
c.2436T>G (p.Pro812=)
2g.189002342T=CA1315402265COL3A1c.2337T= (p.Pro779=)
c.2436T= (p.Pro812=)
2g.189002343G>ACA005375COL3A1c.2338G>A (p.Gly780Ser)
c.2437G>A (p.Gly813Ser)
 ClinVar dbSNP COSMIC COSMIC
2g.189002343G>CCA349842664COL3A1c.2338G>C (p.Gly780Arg)
c.2437G>C (p.Gly813Arg)
2g.189002343G=CA1315402266COL3A1c.2338G= (p.Gly780=)
c.2437G= (p.Gly813=)
2g.189002343G>TCA349842665COL3A1c.2338G>T (p.Gly780Cys)
c.2437G>T (p.Gly813Cys)
2g.189002344G>ACA349842668COL3A1c.2339G>A (p.Gly780Asp)
c.2438G>A (p.Gly813Asp)
2g.189002344G>CCA349842667COL3A1c.2339G>C (p.Gly780Ala)
c.2438G>C (p.Gly813Ala)
2g.189002344G>TCA349842666COL3A1c.2339G>T (p.Gly780Val)
c.2438G>T (p.Gly813Val)
 ClinVar
2g.189002345T>ACA430311281COL3A1c.2340T>A (p.Gly780=)
c.2439T>A (p.Gly813=)
2g.189002345T>CCA430311282COL3A1c.2340T>C (p.Gly780=)
c.2439T>C (p.Gly813=)
2g.189002345T>GCA430311283COL3A1c.2340T>G (p.Gly780=)
c.2439T>G (p.Gly813=)
2g.189002346G>ACA349842669COL3A1c.2341G>A (p.Ala781Thr)
c.2440G>A (p.Ala814Thr)
 ClinVar dbSNP
2g.189002346G>CCA349842671COL3A1c.2341G>C (p.Ala781Pro)
c.2440G>C (p.Ala814Pro)
 gnomAD v4
2g.189002346G=CA1315402267COL3A1c.2341G= (p.Ala781=)
c.2440G= (p.Ala814=)
2g.189002346G>TCA349842670COL3A1c.2341G>T (p.Ala781Ser)
c.2440G>T (p.Ala814Ser)
2g.189002347C>ACA349842672COL3A1c.2342C>A (p.Ala781Asp)
c.2441C>A (p.Ala814Asp)
2g.189002347C>GCA349842674COL3A1c.2342C>G (p.Ala781Gly)
c.2441C>G (p.Ala814Gly)
2g.189002347C>TCA349842673COL3A1c.2342C>T (p.Ala781Val)
c.2441C>T (p.Ala814Val)
2g.189002348T>ACA430311285COL3A1c.2343T>A (p.Ala781=)
c.2442T>A (p.Ala814=)
2g.189002348T>CCA430311286COL3A1c.2343T>C (p.Ala781=)
c.2442T>C (p.Ala814=)
2g.189002348T>GCA430311287COL3A1c.2343T>G (p.Ala781=)
c.2442T>G (p.Ala814=)
2g.189002349C>ACA349842675COL3A1c.2344C>A (p.Pro782Thr)
c.2443C>A (p.Pro815Thr)
2g.189002349C=CA1315402268COL3A1c.2344C= (p.Pro782=)
c.2443C= (p.Pro815=)
2g.189002349C>GCA349842677COL3A1c.2344C>G (p.Pro782Ala)
c.2443C>G (p.Pro815Ala)
 dbSNP
2g.189002349C>TCA349842676COL3A1c.2344C>T (p.Pro782Ser)
c.2443C>T (p.Pro815Ser)
 gnomAD v4
2g.189002350C>ACA349842678COL3A1c.2345C>A (p.Pro782His)
c.2444C>A (p.Pro815His)
2g.189002350C>GCA349842679COL3A1c.2345C>G (p.Pro782Arg)
c.2444C>G (p.Pro815Arg)
2g.189002350C>TCA349842680COL3A1c.2345C>T (p.Pro782Leu)
c.2444C>T (p.Pro815Leu)
2g.189002351T>ACA430311288COL3A1c.2346T>A (p.Pro782=)
c.2445T>A (p.Pro815=)
2g.189002351T>CCA430311289COL3A1c.2346T>C (p.Pro782=)
c.2445T>C (p.Pro815=)
2g.189002351T>GCA075347COL3A1c.2346T>G (p.Pro782=)
c.2445T>G (p.Pro815=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189002351T=CA1315402269COL3A1c.2346T= (p.Pro782=)
c.2445T= (p.Pro815=)
2g.189002352G>ACA349842681COL3A1c.2346+1G>A (n.2346+1G>A)
c.2445+1G>A (n.2445+1G>A)
2g.189002352G>CCA349842682COL3A1c.2346+1G>C (n.2346+1G>C)
c.2445+1G>C (n.2445+1G>C)
2g.189002352G=CA1315402270COL3A1c.2346+1G= (n.2346+1G=)
c.2445+1G= (n.2445+1G=)
2g.189002352G>TCA349842683COL3A1c.2346+1G>T (n.2346+1G>T)
c.2445+1G>T (n.2445+1G>T)
2g.189002352_189002353insGACAGAACA2753571835COL3A1c.2346+1_2346+2insGACAGAA (n.2346+1_2346+2insGACAGAA)
c.2445+1_2445+2insGACAGAA (n.2445+1_2445+2insGACAGAA)
2g.189002353delCA2577185731COL3A1c.2346+2del (n.2346+2del)
c.2445+2del (n.2445+2del)
2g.189002353T>ACA349842684COL3A1c.2346+2T>A (n.2346+2T>A)
c.2445+2T>A (n.2445+2T>A)
2g.189002353T>CCA349842685COL3A1c.2346+2T>C (n.2346+2T>C)
c.2445+2T>C (n.2445+2T>C)
2g.189002353T>GCA349842686COL3A1c.2346+2T>G (n.2346+2T>G)
c.2445+2T>G (n.2445+2T>G)
2g.189002353dupCA005383COL3A1c.2346+2dup (n.2346+2dup)
c.2445+2dup (n.2445+2dup)
 ClinVar dbSNP
2g.189002353_189002354insGGTGAACCTGGTGGTACA2753571837COL3A1c.2346+2_2346+3insGGTGAACCTGGTGGTA (n.2346+2_2346+3insGGTGAACCTGGTGGTA)
c.2445+2_2445+3insGGTGAACCTGGTGGTA (n.2445+2_2445+3insGGTGAACCTGGTGGTA)
2g.189002353_189002354insGGTGAACCTGGTGGTAAAGGAGAAAGAGGGGCTCCGGGTGAGACA2753571836COL3A1c.2346+2_2346+3insGGTGAACCTGGTGGTAAAGGAGAAAGAGGGGCTCCGGGTGAGA (n.2346+2_2346+3insGGTGAACCTGGTGGTAAAGGAGAAAGAGGGGCTCCGGGTGAGA)
c.2445+2_2445+3insGGTGAACCTGGTGGTAAAGGAGAAAGAGGGGCTCCGGGTGAGA (n.2445+2_2445+3insGGTGAACCTGGTGGTAAAGGAGAAAGAGGGGCTCCGGGTGAGA)
2g.189002356G>ACA005392COL3A1c.2346+5G>A (n.2346+5G>A)
c.2445+5G>A (n.2445+5G>A)
 ClinVar dbSNP
2g.189002356G>CCA2586965495COL3A1c.2346+5G>C (n.2346+5G>C)
c.2445+5G>C (n.2445+5G>C)
2g.189002356G=CA1315402271COL3A1c.2346+5G= (n.2346+5G=)
c.2445+5G= (n.2445+5G=)
2g.189002359_189002360delCA2577185732COL3A1c.2346+8_2346+9del (n.2346+8_2346+9del)
c.2445+8_2445+9del (n.2445+8_2445+9del)
2g.189002358G>ACA2662309537COL3A1c.2346+7G>A (n.2346+7G>A)
c.2445+7G>A (n.2445+7G>A)
 gnomAD v4
2g.189002362A=CA1315402272COL3A1c.2346+11A= (n.2346+11A=)
c.2445+11A= (n.2445+11A=)
2g.189002362A>CCA1315402273COL3A1c.2346+11A>C (n.2346+11A>C)
c.2445+11A>C (n.2445+11A>C)
 dbSNP
2g.189002366_189002369delCA2739277969COL3A1c.2346+15_2346+18del (n.2346+15_2346+18del)
c.2445+15_2445+18del (n.2445+15_2445+18del)
 ClinVar
2g.189002365T>GCA075324COL3A1c.2346+14T>G (n.2346+14T>G)
c.2445+14T>G (n.2445+14T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189002365T=CA1315402274COL3A1c.2346+14T= (n.2346+14T=)
c.2445+14T= (n.2445+14T=)
2g.189002367T>CCA2662309538COL3A1c.2346+16T>C (n.2346+16T>C)
c.2445+16T>C (n.2445+16T>C)
 gnomAD v4
2g.189002368A>GCA2662309539COL3A1c.2346+17A>G (n.2346+17A>G)
c.2445+17A>G (n.2445+17A>G)
 gnomAD v4
2g.189002370A=CA1315402275COL3A1c.2346+19A= (n.2346+19A=)
c.2445+19A= (n.2445+19A=)
2g.189002370A>GCA075326COL3A1c.2346+19A>G (n.2346+19A>G)
c.2445+19A>G (n.2445+19A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189002371C>ACA2662309540COL3A1c.2346+20C>A (n.2346+20C>A)
c.2445+20C>A (n.2445+20C>A)
 gnomAD v4
2g.189002371C>TCA913089600COL3A1c.2346+20C>T (n.2346+20C>T)
c.2445+20C>T (n.2445+20C>T)
 gnomAD v4
2g.189002372A>TCA2662309541COL3A1c.2346+21A>T (n.2346+21A>T)
c.2445+21A>T (n.2445+21A>T)
 gnomAD v4
2g.189002373T>CCA538448831COL3A1c.2346+22T>C (n.2346+22T>C)
c.2445+22T>C (n.2445+22T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189002373T=CA1315402276COL3A1c.2346+22T= (n.2346+22T=)
c.2445+22T= (n.2445+22T=)
2g.189002374A=CA1315402277COL3A1c.2346+23A= (n.2346+23A=)
c.2445+23A= (n.2445+23A=)
2g.189002374A>GCA1315402278COL3A1c.2346+23A>G (n.2346+23A>G)
c.2445+23A>G (n.2445+23A>G)
 dbSNP
2g.189002375C>ACA2662309542COL3A1c.2346+24C>A (n.2346+24C>A)
c.2445+24C>A (n.2445+24C>A)
 gnomAD v4
2g.189002375C=CA1315402279COL3A1c.2346+24C= (n.2346+24C=)
c.2445+24C= (n.2445+24C=)
2g.189002375C>TCA075329COL3A1c.2346+24C>T (n.2346+24C>T)
c.2445+24C>T (n.2445+24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189002377T>ACA075332COL3A1c.2346+26T>A (n.2346+26T>A)
c.2445+26T>A (n.2445+26T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189002377T>CCA2577185733COL3A1c.2346+26T>C (n.2346+26T>C)
c.2445+26T>C (n.2445+26T>C)
 gnomAD v4
2g.189002377T>GCA2662309543COL3A1c.2346+26T>G (n.2346+26T>G)
c.2445+26T>G (n.2445+26T>G)
 gnomAD v4
2g.189002377T=CA1315402280COL3A1c.2346+26T= (n.2346+26T=)
c.2445+26T= (n.2445+26T=)
2g.189002378G>ACA2577185734COL3A1c.2346+27G>A (n.2346+27G>A)
c.2445+27G>A (n.2445+27G>A)
 gnomAD v4
2g.189002379_189002386delCA2662309544COL3A1c.2346+28_2346+35del (n.2346+28_2346+35del)
c.2445+28_2445+35del (n.2445+28_2445+35del)
 gnomAD v4
2g.189002380C>ACA2662309545COL3A1c.2346+29C>A (n.2346+29C>A)
c.2445+29C>A (n.2445+29C>A)
 gnomAD v4
2g.189002380C>TCA2662309546COL3A1c.2346+29C>T (n.2346+29C>T)
c.2445+29C>T (n.2445+29C>T)
 gnomAD v4
2g.189002382delCA2577185735COL3A1c.2346+31del (n.2346+31del)
c.2445+31del (n.2445+31del)
2g.189002381C=CA1315402281COL3A1c.2346+30C= (n.2346+30C=)
c.2445+30C= (n.2445+30C=)
2g.189002381C>TCA538448832COL3A1c.2346+30C>T (n.2346+30C>T)
c.2445+30C>T (n.2445+30C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189002383A=CA1315402282COL3A1c.2346+32A= (n.2346+32A=)
c.2445+32A= (n.2445+32A=)
2g.189002383A>CCA075336COL3A1c.2346+32A>C (n.2346+32A>C)
c.2445+32A>C (n.2445+32A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189002383A>GCA2662309547COL3A1c.2346+32A>G (n.2346+32A>G)
c.2445+32A>G (n.2445+32A>G)
 gnomAD v4
2g.189002385A=CA1315402283COL3A1c.2346+34A= (n.2346+34A=)
c.2445+34A= (n.2445+34A=)
2g.189002385A>CCA075339COL3A1c.2346+34A>C (n.2346+34A>C)
c.2445+34A>C (n.2445+34A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189002386G>TCA2662309548COL3A1c.2346+35G>T (n.2346+35G>T)
c.2445+35G>T (n.2445+35G>T)
 gnomAD v4
2g.189002387C>ACA2662309549COL3A1c.2346+36C>A (n.2346+36C>A)
c.2445+36C>A (n.2445+36C>A)
 gnomAD v4
2g.189002387C>TCA2577185737COL3A1c.2346+36C>T (n.2346+36C>T)
c.2445+36C>T (n.2445+36C>T)
2g.189002389delCA2577185736COL3A1c.2346+38del (n.2346+38del)
c.2445+38del (n.2445+38del)
 gnomAD v4
2g.189002388C>ACA2662309550COL3A1c.2346+37C>A (n.2346+37C>A)
c.2445+37C>A (n.2445+37C>A)
 gnomAD v4
2g.189002389C=CA1315402284COL3A1c.2346+38C= (n.2346+38C=)
c.2445+38C= (n.2445+38C=)
2g.189002389C>GCA1040410807COL3A1c.2346+38C>G (n.2346+38C>G)
c.2445+38C>G (n.2445+38C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189002391G>ACA2662309552COL3A1c.2346+40G>A (n.2346+40G>A)
c.2445+40G>A (n.2445+40G>A)
 gnomAD v4
2g.189002391G>TCA2662309553COL3A1c.2346+40G>T (n.2346+40G>T)
c.2445+40G>T (n.2445+40G>T)
 gnomAD v4
2g.189002392delCA2662309551COL3A1c.2346+41del (n.2346+41del)
c.2445+41del (n.2445+41del)
 gnomAD v4
2g.189002392G>ACA538448833COL3A1c.2346+41G>A (n.2346+41G>A)
c.2445+41G>A (n.2445+41G>A)
 dbSNP gnomAD v2
2g.189002392G=CA1315402285COL3A1c.2346+41G= (n.2346+41G=)
c.2445+41G= (n.2445+41G=)
2g.189002392G>TCA62556043COL3A1c.2346+41G>T (n.2346+41G>T)
c.2445+41G>T (n.2445+41G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189002393A=CA1315402287COL3A1c.2346+42A= (n.2346+42A=)
c.2445+42A= (n.2445+42A=)
2g.189002393A>GCA538448834COL3A1c.2346+42A>G (n.2346+42A>G)
c.2445+42A>G (n.2445+42A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189002393A>TCA1315402286COL3A1c.2346+42A>T (n.2346+42A>T)
c.2445+42A>T (n.2445+42A>T)
 dbSNP gnomAD v4
2g.189002395C>ACA2662309554COL3A1c.2346+44C>A (n.2346+44C>A)
c.2445+44C>A (n.2445+44C>A)
 gnomAD v4
2g.189002396T>GCA62556052COL3A1c.2346+45T>G (n.2346+45T>G)
c.2445+45T>G (n.2445+45T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189002396T=CA1315402288COL3A1c.2346+45T= (n.2346+45T=)
c.2445+45T= (n.2445+45T=)
2g.189002397C>GCA2662309555COL3A1c.2346+46C>G (n.2346+46C>G)
c.2445+46C>G (n.2445+46C>G)
 gnomAD v4
2g.189002398T>GCA2577185738COL3A1c.2346+47T>G (n.2346+47T>G)
c.2445+47T>G (n.2445+47T>G)
 gnomAD v4
2g.189002399A=CA1315402289COL3A1c.2346+48A= (n.2346+48A=)
c.2445+48A= (n.2445+48A=)
2g.189002399A>GCA075341COL3A1c.2346+48A>G (n.2346+48A>G)
c.2445+48A>G (n.2445+48A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189002399A>TCA2662309556COL3A1c.2346+48A>T (n.2346+48A>T)
c.2445+48A>T (n.2445+48A>T)
 gnomAD v4
2g.189002400T>ACA2662309557COL3A1c.2346+49T>A (n.2346+49T>A)
c.2445+49T>A (n.2445+49T>A)
 gnomAD v4
2g.189002400T>CCA762202571COL3A1c.2346+49T>C (n.2346+49T>C)
c.2445+49T>C (n.2445+49T>C)
 dbSNP gnomAD v4
2g.189002400T=CA1315402290COL3A1c.2346+49T= (n.2346+49T=)
c.2445+49T= (n.2445+49T=)
2g.189002401C>ACA075344COL3A1c.2346+50C>A (n.2346+50C>A)
c.2445+50C>A (n.2445+50C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189002401C=CA1315402291COL3A1c.2346+50C= (n.2346+50C=)
c.2445+50C= (n.2445+50C=)
2g.189002401C>GCA2662309558COL3A1c.2346+50C>G (n.2346+50C>G)
c.2445+50C>G (n.2445+50C>G)
 gnomAD v4
2g.189002402T>CCA2662309559COL3A1c.2346+51T>C (n.2346+51T>C)
c.2445+51T>C (n.2445+51T>C)
 gnomAD v4
2g.189002403T>CCA762202600COL3A1c.2346+52T>C (n.2346+52T>C)
c.2445+52T>C (n.2445+52T>C)
 dbSNP gnomAD v4
2g.189002403T=CA1315402292COL3A1c.2346+52T= (n.2346+52T=)
c.2445+52T= (n.2445+52T=)
2g.189002405C>ACA2662309560COL3A1c.2346+54C>A (n.2346+54C>A)
c.2445+54C>A (n.2445+54C>A)
 gnomAD v4
2g.189002405C>GCA2577185739COL3A1c.2346+54C>G (n.2346+54C>G)
c.2445+54C>G (n.2445+54C>G)
2g.189002407G>ACA2556981409COL3A1c.2346+56G>A (n.2346+56G>A)
c.2445+56G>A (n.2445+56G>A)
 gnomAD v4
2g.189002408A>GCA2662309561COL3A1c.2346+57A>G (n.2346+57A>G)
c.2445+57A>G (n.2445+57A>G)
 gnomAD v4
2g.189002410A=CA1315402293COL3A1c.2346+59A= (n.2346+59A=)
c.2445+59A= (n.2445+59A=)
2g.189002410A>GCA1315402294COL3A1c.2346+59A>G (n.2346+59A>G)
c.2445+59A>G (n.2445+59A>G)
 dbSNP gnomAD v4
2g.189002411A>CCA2662309562COL3A1c.2346+60A>C (n.2346+60A>C)
c.2445+60A>C (n.2445+60A>C)
 gnomAD v4
2g.189002412A=CA1315402295COL3A1c.2346+61A= (n.2346+61A=)
c.2445+61A= (n.2445+61A=)
2g.189002412A>TCA1040410821COL3A1c.2346+61A>T (n.2346+61A>T)
c.2445+61A>T (n.2445+61A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189002413_189002414delCA2753571838COL3A1c.2346+62_2346+63del (n.2346+62_2346+63del)
c.2445+62_2445+63del (n.2445+62_2445+63del)
2g.189002414T>CCA2662309563COL3A1c.2346+63T>C (n.2346+63T>C)
c.2445+63T>C (n.2445+63T>C)
 gnomAD v4
2g.189002414T>GCA2701314227COL3A1c.2346+63T>G (n.2346+63T>G)
c.2445+63T>G (n.2445+63T>G)
 dbSNP
2g.189002416_189002417delCA2577185740COL3A1c.2346+65_2346+66del (n.2346+65_2346+66del)
c.2445+65_2445+66del (n.2445+65_2445+66del)
2g.189002416C>ACA2662309564COL3A1c.2346+65C>A (n.2346+65C>A)
c.2445+65C>A (n.2445+65C>A)
 gnomAD v4
2g.189002416C=CA1315402296COL3A1c.2346+65C= (n.2346+65C=)
c.2445+65C= (n.2445+65C=)
2g.189002416C>GCA62556059COL3A1c.2346+65C>G (n.2346+65C>G)
c.2445+65C>G (n.2445+65C>G)
 dbSNP gnomAD v4
2g.189002417A=CA1315402297COL3A1c.2346+66A= (n.2346+66A=)
c.2445+66A= (n.2445+66A=)
2g.189002417A>GCA1315402298COL3A1c.2346+66A>G (n.2346+66A>G)
c.2445+66A>G (n.2445+66A>G)
 dbSNP gnomAD v4
2g.189002418A=CA1315402299COL3A1c.2346+67A= (n.2346+67A=)
c.2445+67A= (n.2445+67A=)
2g.189002418A>CCA2577185741COL3A1c.2346+67A>C (n.2346+67A>C)
c.2445+67A>C (n.2445+67A>C)
2g.189002418A>GCA62556064COL3A1c.2346+67A>G (n.2346+67A>G)
c.2445+67A>G (n.2445+67A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189002418A>TCA2581840828COL3A1c.2346+67A>T (n.2346+67A>T)
c.2445+67A>T (n.2445+67A>T)
2g.189002420A>CCA647397762COL3A1c.2346+69A>C (n.2346+69A>C)
c.2445+69A>C (n.2445+69A>C)
 COSMIC
2g.189002420A>GCA2662309565COL3A1c.2346+69A>G (n.2346+69A>G)
c.2445+69A>G (n.2445+69A>G)
 gnomAD v4
2g.189002421G>ACA62556075COL3A1c.2346+70G>A (n.2346+70G>A)
c.2445+70G>A (n.2445+70G>A)
 dbSNP gnomAD v4
2g.189002421G=CA1315402300COL3A1c.2346+70G= (n.2346+70G=)
c.2445+70G= (n.2445+70G=)
2g.189002421G>TCA2577185742COL3A1c.2346+70G>T (n.2346+70G>T)
c.2445+70G>T (n.2445+70G>T)
 gnomAD v4
2g.189002424_189002425dupCA2577185743COL3A1c.2346+73_2346+74dup (n.2346+73_2346+74dup)
c.2445+73_2445+74dup (n.2445+73_2445+74dup)
2g.189002423A=CA1315402301COL3A1c.2346+72A= (n.2346+72A=)
c.2445+72A= (n.2445+72A=)
2g.189002423A>GCA762202607COL3A1c.2346+72A>G (n.2346+72A>G)
c.2445+72A>G (n.2445+72A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189002424T>ACA2662309566COL3A1c.2346+73T>A (n.2346+73T>A)
c.2445+73T>A (n.2445+73T>A)
 gnomAD v4
2g.189002426G>TCA2662309567COL3A1c.2346+75G>T (n.2346+75G>T)
c.2445+75G>T (n.2445+75G>T)
 gnomAD v4
2g.189002427T>CCA2577185744COL3A1c.2346+76T>C (n.2346+76T>C)
c.2445+76T>C (n.2445+76T>C)

Number of alleles fetched