Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.189002999_189003025delCA005416COL3A1c.2391_2417del (p.Gly798_Pro806del)
c.2490_2516del (p.Gly831_Pro839del)
 ClinVar dbSNP
2g.189003024C>ACA349842837COL3A1c.2416C>A (p.Pro806Thr)
c.2515C>A (p.Pro839Thr)
 gnomAD v4
2g.189003024C>GCA349842836COL3A1c.2416C>G (p.Pro806Ala)
c.2515C>G (p.Pro839Ala)
2g.189003024C>TCA349842835COL3A1c.2416C>T (p.Pro806Ser)
c.2515C>T (p.Pro839Ser)
 ClinVar
2g.189003031_189003048delCA2522405491COL3A1c.2423_2440del (p.Val808_Gly813del)
c.2522_2539del (p.Val841_Gly846del)
c.2522_2527+12del
2g.189003025C>ACA349842838COL3A1c.2417C>A (p.Pro806His)
c.2516C>A (p.Pro839His)
 dbSNP gnomAD v2 gnomAD v4
2g.189003025C=CA1315402547COL3A1c.2417C= (p.Pro806=)
c.2516C= (p.Pro839=)
2g.189003025C>GCA349842839COL3A1c.2417C>G (p.Pro806Arg)
c.2516C>G (p.Pro839Arg)
 gnomAD v4
2g.189003025C>TCA349842840COL3A1c.2417C>T (p.Pro806Leu)
c.2516C>T (p.Pro839Leu)
2g.189003026T>ACA430311371COL3A1c.2418T>A (p.Pro806=)
c.2517T>A (p.Pro839=)
 gnomAD v4
2g.189003026T>CCA430311369COL3A1c.2418T>C (p.Pro806=)
c.2517T>C (p.Pro839=)
2g.189003026T>GCA430311370COL3A1c.2418T>G (p.Pro806=)
c.2517T>G (p.Pro839=)
2g.189003027G>ACA349842841COL3A1c.2419G>A (p.Gly807Arg)
c.2518G>A (p.Gly840Arg)
2g.189003027G>CCA349842842COL3A1c.2419G>C (p.Gly807Arg)
c.2518G>C (p.Gly840Arg)
2g.189003027G>TCA349842843COL3A1c.2419G>T (p.Gly807Ter)
c.2518G>T (p.Gly840Ter)
2g.189003028G>ACA349842844COL3A1c.2420G>A (p.Gly807Glu)
c.2519G>A (p.Gly840Glu)
2g.189003028G>CCA349842845COL3A1c.2420G>C (p.Gly807Ala)
c.2519G>C (p.Gly840Ala)
2g.189003028G=CA1315402548COL3A1c.2420G= (p.Gly807=)
c.2519G= (p.Gly840=)
2g.189003028G>TCA10587538COL3A1c.2420G>T (p.Gly807Val)
c.2519G>T (p.Gly840Val)
 ClinVar dbSNP
2g.189003029_189003030delCA2662309703COL3A1c.2421_2422del (p.Val808CysfsTer21)
c.2520_2521del (p.Val841CysfsTer21)
c.2520_2521del (p.Val841CysfsTer24)
 gnomAD v4
2g.189003029A>CCA430311373COL3A1c.2421A>C (p.Gly807=)
c.2520A>C (p.Gly840=)
2g.189003029A>GCA430311374COL3A1c.2421A>G (p.Gly807=)
c.2520A>G (p.Gly840=)
 gnomAD v4
2g.189003029A>TCA430311375COL3A1c.2421A>T (p.Gly807=)
c.2520A>T (p.Gly840=)
2g.189003030G>ACA349842846COL3A1c.2422G>A (p.Val808Ile)
c.2521G>A (p.Val841Ile)
2g.189003030G>CCA349842847COL3A1c.2422G>C (p.Val808Leu)
c.2521G>C (p.Val841Leu)
2g.189003030G=CA1315402549COL3A1c.2422G= (p.Val808=)
c.2521G= (p.Val841=)
2g.189003030G>TCA349842848COL3A1c.2422G>T (p.Val808Phe)
c.2521G>T (p.Val841Phe)
 ClinVar dbSNP gnomAD v4
2g.189003031T>ACA349842849COL3A1c.2423T>A (p.Val808Asp)
c.2522T>A (p.Val841Asp)
2g.189003031T>CCA349842851COL3A1c.2423T>C (p.Val808Ala)
c.2522T>C (p.Val841Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003031T>GCA349842850COL3A1c.2423T>G (p.Val808Gly)
c.2522T>G (p.Val841Gly)
2g.189003031T=CA1315402550COL3A1c.2423T= (p.Val808=)
c.2522T= (p.Val841=)
2g.189003032T>ACA430311380COL3A1c.2424T>A (p.Val808=)
c.2523T>A (p.Val841=)
2g.189003032T>CCA430311379COL3A1c.2424T>C (p.Val808=)
c.2523T>C (p.Val841=)
2g.189003032T>GCA430311381COL3A1c.2424T>G (p.Val808=)
c.2523T>G (p.Val841=)
2g.189003033G>ACA349842852COL3A1c.2425G>A (p.Ala809Thr)
c.2524G>A (p.Ala842Thr)
 ClinVar gnomAD v4
2g.189003033G>CCA349842854COL3A1c.2425G>C (p.Ala809Pro)
c.2524G>C (p.Ala842Pro)
2g.189003033G>TCA349842853COL3A1c.2425G>T (p.Ala809Ser)
c.2524G>T (p.Ala842Ser)
 gnomAD v4
2g.189003034C>ACA349842855COL3A1c.2426C>A (p.Ala809Glu)
c.2525C>A (p.Ala842Glu)
 gnomAD v4
2g.189003034C=CA1315402551COL3A1c.2426C= (p.Ala809=)
c.2525C= (p.Ala842=)
2g.189003034C>GCA349842857COL3A1c.2426C>G (p.Ala809Gly)
c.2525C>G (p.Ala842Gly)
2g.189003034C>TCA349842856COL3A1c.2426C>T (p.Ala809Val)
c.2525C>T (p.Ala842Val)
 ClinVar dbSNP gnomAD v4
2g.189003035A>CCA430311382COL3A1c.2427A>C (p.Ala809=)
c.2526A>C (p.Ala842=)
2g.189003035A>GCA430311384COL3A1c.2427A>G (p.Ala809=)
c.2526A>G (p.Ala842=)
2g.189003035A>TCA430311383COL3A1c.2427A>T (p.Ala809=)
c.2526A>T (p.Ala842=)
 gnomAD v4
2g.189003036G>ACA349842858COL3A1c.2428G>A (p.Gly810Arg)
c.2527G>A (p.Gly843Arg)
2g.189003036G>CCA349842860COL3A1c.2428G>C (p.Gly810Arg)
c.2527G>C (p.Gly843Arg)
2g.189003036G>TCA349842859COL3A1c.2428G>T (p.Gly810Ter)
c.2527G>T (p.Gly843Ter)
2g.189003037G>ACA349842861COL3A1c.2429G>A (p.Gly810Glu)
c.2528G>A (p.Gly843Glu)
c.2527+1G>A (n.2527+1G>A)
2g.189003037G>CCA349842863COL3A1c.2429G>C (p.Gly810Ala)
c.2528G>C (p.Gly843Ala)
c.2527+1G>C (n.2527+1G>C)
2g.189003037G>TCA349842862COL3A1c.2429G>T (p.Gly810Val)
c.2528G>T (p.Gly843Val)
c.2527+1G>T (n.2527+1G>T)
2g.189003038A=CA1315402552COL3A1c.2430A= (p.Gly810=)
c.2529A= (p.Gly843=)
c.2527+2A= (n.2527+2A=)
2g.189003038A>CCA349842864COL3A1c.2430A>C (p.Gly810=)
c.2529A>C (p.Gly843=)
c.2527+2A>C (n.2527+2A>C)
2g.189003038A>GCA349842866COL3A1c.2430A>G (p.Gly810=)
c.2529A>G (p.Gly843=)
c.2527+2A>G (n.2527+2A>G)
 gnomAD v4
2g.189003038A>TCA349842865COL3A1c.2430A>T (p.Gly810=)
c.2529A>T (p.Gly843=)
c.2527+2A>T (n.2527+2A>T)
2g.189003039C>ACA349842867COL3A1c.2431C>A (p.Pro811Thr)
c.2530C>A (p.Pro844Thr)
c.2527+3C>A (n.2527+3C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003039C=CA1315402553COL3A1c.2431C= (p.Pro811=)
c.2530C= (p.Pro844=)
c.2527+3C= (n.2527+3C=)
2g.189003039C>GCA075379COL3A1c.2431C>G (p.Pro811Ala)
c.2530C>G (p.Pro844Ala)
c.2527+3C>G (n.2527+3C>G)
 ClinVar dbSNP ExAC gnomAD v4
2g.189003039C>TCA349842868COL3A1c.2431C>T (p.Pro811Ser)
c.2530C>T (p.Pro844Ser)
c.2527+3C>T (n.2527+3C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189003043dupCA286343COL3A1c.2435dup (p.Gly813TrpfsTer17)
c.2534dup (p.Gly846TrpfsTer17)
c.2527+7dup (n.2527+7dup)
 ClinVar dbSNP
2g.189003043delCA2753571847COL3A1c.2435del (p.Pro812LeufsTer?)
c.2534del (p.Pro845LeufsTer?)
c.2527+7del (n.2527+7del)
2g.189003040C>ACA349842869COL3A1c.2432C>A (p.Pro811His)
c.2531C>A (p.Pro844His)
c.2527+4C>A (n.2527+4C>A)
 gnomAD v4
2g.189003040C=CA1315402554COL3A1c.2432C= (p.Pro811=)
c.2531C= (p.Pro844=)
c.2527+4C= (n.2527+4C=)
2g.189003040C>GCA349842870COL3A1c.2432C>G (p.Pro811Arg)
c.2531C>G (p.Pro844Arg)
c.2527+4C>G (n.2527+4C>G)
2g.189003040C>TCA62556378COL3A1c.2432C>T (p.Pro811Leu)
c.2531C>T (p.Pro844Leu)
c.2527+4C>T (n.2527+4C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189003041C>ACA430311387COL3A1c.2433C>A (p.Pro811=)
c.2532C>A (p.Pro844=)
c.2527+5C>A (n.2527+5C>A)
 gnomAD v4
2g.189003041C=CA1315402555COL3A1c.2433C= (p.Pro811=)
c.2532C= (p.Pro844=)
c.2527+5C= (n.2527+5C=)
2g.189003041C>GCA430311388COL3A1c.2433C>G (p.Pro811=)
c.2532C>G (p.Pro844=)
c.2527+5C>G (n.2527+5C>G)
 dbSNP
2g.189003041C>TCA430311389COL3A1c.2433C>T (p.Pro811=)
c.2532C>T (p.Pro844=)
c.2527+5C>T (n.2527+5C>T)
 COSMIC
2g.189003042C>ACA349842871COL3A1c.2434C>A (p.Pro812Thr)
c.2533C>A (p.Pro845Thr)
c.2527+6C>A (n.2527+6C>A)
 ClinVar gnomAD v4
2g.189003042C>GCA349842873COL3A1c.2434C>G (p.Pro812Ala)
c.2533C>G (p.Pro845Ala)
c.2527+6C>G (n.2527+6C>G)
 gnomAD v4
2g.189003042C>TCA349842872COL3A1c.2434C>T (p.Pro812Ser)
c.2533C>T (p.Pro845Ser)
c.2527+6C>T (n.2527+6C>T)
2g.189003043C>ACA349842874COL3A1c.2435C>A (p.Pro812His)
c.2534C>A (p.Pro845His)
c.2527+7C>A (n.2527+7C>A)
2g.189003043C>GCA349842875COL3A1c.2435C>G (p.Pro812Arg)
c.2534C>G (p.Pro845Arg)
c.2527+7C>G (n.2527+7C>G)
2g.189003043C>TCA349842876COL3A1c.2435C>T (p.Pro812Leu)
c.2534C>T (p.Pro845Leu)
c.2527+7C>T (n.2527+7C>T)
 gnomAD v4
2g.189003044T>ACA430311390COL3A1c.2436T>A (p.Pro812=)
c.2535T>A (p.Pro845=)
c.2527+8T>A (n.2527+8T>A)
2g.189003044T>CCA430311391COL3A1c.2436T>C (p.Pro812=)
c.2535T>C (p.Pro845=)
c.2527+8T>C (n.2527+8T>C)
2g.189003044T>GCA430311392COL3A1c.2436T>G (p.Pro812=)
c.2535T>G (p.Pro845=)
c.2527+8T>G (n.2527+8T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189003044T=CA1315402556COL3A1c.2436T= (p.Pro812=)
c.2535T= (p.Pro845=)
c.2527+8T= (n.2527+8T=)
2g.189003045G>ACA349842877COL3A1c.2437G>A (p.Gly813Arg)
c.2536G>A (p.Gly846Arg)
c.2527+9G>A (n.2527+9G>A)
 ClinVar dbSNP
2g.189003045G>CCA349842878COL3A1c.2437G>C (p.Gly813Arg)
c.2536G>C (p.Gly846Arg)
c.2527+9G>C (n.2527+9G>C)
2g.189003045G=CA1315402557COL3A1c.2437G= (p.Gly813=)
c.2536G= (p.Gly846=)
c.2527+9G= (n.2527+9G=)
2g.189003045G>TCA349842879COL3A1c.2437G>T (p.Gly813Ter)
c.2536G>T (p.Gly846Ter)
c.2527+9G>T (n.2527+9G>T)
2g.189003046G>ACA349842880COL3A1c.2438G>A (p.Gly813Glu)
c.2537G>A (p.Gly846Glu)
c.2527+10G>A (n.2527+10G>A)
2g.189003046G>CCA349842881COL3A1c.2438G>C (p.Gly813Ala)
c.2537G>C (p.Gly846Ala)
c.2527+10G>C (n.2527+10G>C)
2g.189003046G>TCA349842882COL3A1c.2438G>T (p.Gly813Val)
c.2537G>T (p.Gly846Val)
c.2527+10G>T (n.2527+10G>T)
2g.189003047A>CCA430311395COL3A1c.2439A>C (p.Gly813=)
c.2538A>C (p.Gly846=)
c.2527+11A>C (n.2527+11A>C)
 gnomAD v4
2g.189003047A>GCA430311396COL3A1c.2439A>G (p.Gly813=)
c.2538A>G (p.Gly846=)
c.2527+11A>G (n.2527+11A>G)
2g.189003047A>TCA430311397COL3A1c.2439A>T (p.Gly813=)
c.2538A>T (p.Gly846=)
c.2527+11A>T (n.2527+11A>T)
2g.189003048G>ACA349842883COL3A1c.2440G>A (p.Gly814Ser)
c.2539G>A (p.Gly847Ser)
c.2527+12G>A (n.2527+12G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189003048G>CCA349842884COL3A1c.2440G>C (p.Gly814Arg)
c.2539G>C (p.Gly847Arg)
c.2527+12G>C (n.2527+12G>C)
 gnomAD v4
2g.189003048G=CA1315402558COL3A1c.2440G= (p.Gly814=)
c.2539G= (p.Gly847=)
c.2527+12G= (n.2527+12G=)
2g.189003048G>TCA349842885COL3A1c.2440G>T (p.Gly814Cys)
c.2539G>T (p.Gly847Cys)
c.2527+12G>T (n.2527+12G>T)
2g.189003049G>ACA349842888COL3A1c.2441G>A (p.Gly814Asp)
c.2540G>A (p.Gly847Asp)
c.2527+13G>A (n.2527+13G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189003049G>CCA349842887COL3A1c.2441G>C (p.Gly814Ala)
c.2540G>C (p.Gly847Ala)
c.2527+13G>C (n.2527+13G>C)
2g.189003049G=CA1315402559COL3A1c.2441G= (p.Gly814=)
c.2540G= (p.Gly847=)
c.2527+13G= (n.2527+13G=)
2g.189003049G>TCA349842886COL3A1c.2441G>T (p.Gly814Val)
c.2540G>T (p.Gly847Val)
c.2527+13G>T (n.2527+13G>T)
 ClinVar dbSNP gnomAD v4
2g.189003050T>ACA430311399COL3A1c.2442T>A (p.Gly814=)
c.2541T>A (p.Gly847=)
c.2527+14T>A (n.2527+14T>A)
2g.189003050T>CCA430311400COL3A1c.2442T>C (p.Gly814=)
c.2541T>C (p.Gly847=)
c.2527+14T>C (n.2527+14T>C)
 ClinVar
2g.189003050T>GCA430311401COL3A1c.2442T>G (p.Gly814=)
c.2541T>G (p.Gly847=)
c.2527+14T>G (n.2527+14T>G)
2g.189003051T>ACA349842889COL3A1c.2443T>A (p.Ser815Thr)
c.2542T>A (p.Ser848Thr)
c.2527+15T>A (n.2527+15T>A)
 gnomAD v4
2g.189003051T>CCA349842890COL3A1c.2443T>C (p.Ser815Pro)
c.2542T>C (p.Ser848Pro)
c.2527+15T>C (n.2527+15T>C)
 COSMIC
2g.189003051T>GCA349842891COL3A1c.2443T>G (p.Ser815Ala)
c.2542T>G (p.Ser848Ala)
c.2527+15T>G (n.2527+15T>G)
2g.189003051T=CA1315402560COL3A1c.2443T= (p.Ser815=)
c.2542T= (p.Ser848=)
c.2527+15T= (n.2527+15T=)
2g.189003051_189003052insACA62556380COL3A1c.2443_2444insA (p.Ser815TyrfsTer15)
c.2542_2543insA (p.Ser848TyrfsTer15)
c.2527+15_2527+16insA (n.2527+15_2527+16insA)
 dbSNP
2g.189003052C>ACA349842892COL3A1c.2444C>A (p.Ser815Tyr)
c.2543C>A (p.Ser848Tyr)
c.2527+16C>A (n.2527+16C>A)
 gnomAD v4
2g.189003052C>GCA349842893COL3A1c.2444C>G (p.Ser815Cys)
c.2543C>G (p.Ser848Cys)
c.2527+16C>G (n.2527+16C>G)
2g.189003052C>TCA349842894COL3A1c.2444C>T (p.Ser815Phe)
c.2543C>T (p.Ser848Phe)
c.2527+16C>T (n.2527+16C>T)
 gnomAD v4
2g.189003053T>ACA430311405COL3A1c.2445T>A (p.Ser815=)
c.2544T>A (p.Ser848=)
c.2527+17T>A (n.2527+17T>A)
2g.189003053T>CCA430311406COL3A1c.2445T>C (p.Ser815=)
c.2544T>C (p.Ser848=)
c.2527+17T>C (n.2527+17T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189003053T>GCA430311408COL3A1c.2445T>G (p.Ser815=)
c.2544T>G (p.Ser848=)
c.2527+17T>G (n.2527+17T>G)
2g.189003053T=CA1315402561COL3A1c.2445T= (p.Ser815=)
c.2544T= (p.Ser848=)
c.2527+17T= (n.2527+17T=)
2g.189003054G>ACA349842895COL3A1c.2446G>A (p.Gly816Arg)
c.2545G>A (p.Gly849Arg)
c.2527+18G>A (n.2527+18G>A)
2g.189003054G>CCA349842896COL3A1c.2446G>C (p.Gly816Arg)
c.2545G>C (p.Gly849Arg)
c.2527+18G>C (n.2527+18G>C)
2g.189003054G>TCA349842897COL3A1c.2446G>T (p.Gly816Ter)
c.2545G>T (p.Gly849Ter)
c.2527+18G>T (n.2527+18G>T)
 gnomAD v4
2g.189003055G>ACA349842898COL3A1c.2447G>A (p.Gly816Glu)
c.2546G>A (p.Gly849Glu)
c.2527+19G>A (n.2527+19G>A)
2g.189003055G>CCA349842899COL3A1c.2447G>C (p.Gly816Ala)
c.2546G>C (p.Gly849Ala)
c.2527+19G>C (n.2527+19G>C)
2g.189003055G>TCA349842900COL3A1c.2447G>T (p.Gly816Val)
c.2546G>T (p.Gly849Val)
c.2527+19G>T (n.2527+19G>T)
2g.189003056A>CCA430311410COL3A1c.2448A>C (p.Gly816=)
c.2547A>C (p.Gly849=)
c.2527+20A>C (n.2527+20A>C)
2g.189003056A>GCA430311412COL3A1c.2448A>G (p.Gly816=)
c.2547A>G (p.Gly849=)
c.2527+20A>G (n.2527+20A>G)
 ClinVar dbSNP
2g.189003056A>TCA430311411COL3A1c.2448A>T (p.Gly816=)
c.2547A>T (p.Gly849=)
c.2527+20A>T (n.2527+20A>T)
2g.189003057C>ACA075382COL3A1c.2449C>A (p.Pro817Thr)
c.2548C>A (p.Pro850Thr)
c.2527+21C>A (n.2527+21C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189003057C=CA1315402562COL3A1c.2449C= (p.Pro817=)
c.2548C= (p.Pro850=)
c.2527+21C= (n.2527+21C=)
2g.189003057C>GCA349842902COL3A1c.2449C>G (p.Pro817Ala)
c.2548C>G (p.Pro850Ala)
c.2527+21C>G (n.2527+21C>G)
2g.189003057C>TCA349842901COL3A1c.2449C>T (p.Pro817Ser)
c.2548C>T (p.Pro850Ser)
c.2527+21C>T (n.2527+21C>T)
 gnomAD v4
2g.189003058C>ACA349842903COL3A1c.2450C>A (p.Pro817His)
c.2549C>A (p.Pro850His)
c.2527+22C>A (n.2527+22C>A)
 gnomAD v4
2g.189003058C>GCA349842904COL3A1c.2450C>G (p.Pro817Arg)
c.2549C>G (p.Pro850Arg)
c.2527+22C>G (n.2527+22C>G)
 gnomAD v4
2g.189003058C>TCA349842905COL3A1c.2450C>T (p.Pro817Leu)
c.2549C>T (p.Pro850Leu)
c.2527+22C>T (n.2527+22C>T)
2g.189003059T>ACA430311414COL3A1c.2451T>A (p.Pro817=)
c.2550T>A (p.Pro850=)
c.2527+23T>A (n.2527+23T>A)
2g.189003059T>CCA005448COL3A1c.2451T>C (p.Pro817=)
c.2550T>C (p.Pro850=)
c.2527+23T>C (n.2527+23T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003059T>GCA430311415COL3A1c.2451T>G (p.Pro817=)
c.2550T>G (p.Pro850=)
c.2527+23T>G (n.2527+23T>G)
2g.189003059T=CA1315402563COL3A1c.2451T= (p.Pro817=)
c.2550T= (p.Pro850=)
c.2527+23T= (n.2527+23T=)
2g.189003060G>ACA349842906COL3A1c.2452G>A (p.Ala818Thr)
c.2551G>A (p.Ala851Thr)
c.2527+24G>A (n.2527+24G>A)
 gnomAD v4
2g.189003060G>CCA349842907COL3A1c.2452G>C (p.Ala818Pro)
c.2551G>C (p.Ala851Pro)
c.2527+24G>C (n.2527+24G>C)
2g.189003060G>TCA349842908COL3A1c.2452G>T (p.Ala818Ser)
c.2551G>T (p.Ala851Ser)
c.2527+24G>T (n.2527+24G>T)
2g.189003061C>ACA349842909COL3A1c.2453C>A (p.Ala818Asp)
c.2552C>A (p.Ala851Asp)
c.2527+25C>A (n.2527+25C>A)
2g.189003061C>GCA349842910COL3A1c.2453C>G (p.Ala818Gly)
c.2552C>G (p.Ala851Gly)
c.2527+25C>G (n.2527+25C>G)
2g.189003061C>TCA349842911COL3A1c.2453C>T (p.Ala818Val)
c.2552C>T (p.Ala851Val)
c.2527+25C>T (n.2527+25C>T)
2g.189003062T>ACA430311419COL3A1c.2454T>A (p.Ala818=)
c.2553T>A (p.Ala851=)
c.2527+26T>A (n.2527+26T>A)
 ClinVar dbSNP
2g.189003062T>CCA430311421COL3A1c.2454T>C (p.Ala818=)
c.2553T>C (p.Ala851=)
c.2527+26T>C (n.2527+26T>C)
2g.189003062T>GCA430311422COL3A1c.2454T>G (p.Ala818=)
c.2553T>G (p.Ala851=)
c.2527+26T>G (n.2527+26T>G)
 gnomAD v4
2g.189003062T=CA1315402565COL3A1c.2454T= (p.Ala818=)
c.2553T= (p.Ala851=)
c.2527+26T= (n.2527+26T=)
2g.189003062_189003063delinsTGCA1315402564COL3A1c.2454_2454+1delinsTG
c.2553_2553+1delinsTG
c.2527+26_2527+27delinsTG (n.2527+26_2527+27delinsTG)
2g.189003063delCA005456COL3A1c.2454+1del (n.2454+1del)
c.2553+1del (n.2553+1del)
c.2527+27del (n.2527+27del)
 ClinVar dbSNP
2g.189003063G>ACA005463COL3A1c.2454+1G>A (n.2454+1G>A)
c.2553+1G>A (n.2553+1G>A)
c.2527+27G>A (n.2527+27G>A)
 ClinVar dbSNP
2g.189003063G>CCA005469COL3A1c.2454+1G>C (n.2454+1G>C)
c.2553+1G>C (n.2553+1G>C)
c.2527+27G>C (n.2527+27G>C)
 ClinVar dbSNP gnomAD v4
2g.189003063G=CA1315402566COL3A1c.2454+1G= (n.2454+1G=)
c.2553+1G= (n.2553+1G=)
c.2527+27G= (n.2527+27G=)
2g.189003063G>TCA349842912COL3A1c.2454+1G>T (n.2454+1G>T)
c.2553+1G>T (n.2553+1G>T)
c.2527+27G>T (n.2527+27G>T)
2g.189003064T>ACA349842913COL3A1c.2454+2T>A (n.2454+2T>A)
c.2553+2T>A (n.2553+2T>A)
c.2527+28T>A (n.2527+28T>A)
2g.189003064T>CCA005474COL3A1c.2454+2T>C (n.2454+2T>C)
c.2553+2T>C (n.2553+2T>C)
c.2527+28T>C (n.2527+28T>C)
 ClinVar dbSNP
2g.189003064T>GCA349842914COL3A1c.2454+2T>G (n.2454+2T>G)
c.2553+2T>G (n.2553+2T>G)
c.2527+28T>G (n.2527+28T>G)
2g.189003064T=CA1315402567COL3A1c.2454+2T= (n.2454+2T=)
c.2553+2T= (n.2553+2T=)
c.2527+28T= (n.2527+28T=)
2g.189003064_189003065insTTCA2586965499COL3A1c.2454+2_2454+3insTT (n.2454+2_2454+3insTT)
c.2553+2_2553+3insTT (n.2553+2_2553+3insTT)
c.2527+28_2527+29insTT (n.2527+28_2527+29insTT)
2g.189003064_189003066delCA2662309704COL3A1c.2454+2_2454+4del (n.2454+2_2454+4del)
c.2553+2_2553+4del (n.2553+2_2553+4del)
c.2527+28_2527+30del (n.2527+28_2527+30del)
 gnomAD v4
2g.189003065A=CA1315402568COL3A1c.2454+3A= (n.2454+3A=)
c.2553+3A= (n.2553+3A=)
c.2527+29A= (n.2527+29A=)
2g.189003065A>GCA62556403COL3A1c.2454+3A>G (n.2454+3A>G)
c.2553+3A>G (n.2553+3A>G)
c.2527+29A>G (n.2527+29A>G)
 dbSNP gnomAD v4
2g.189003065A>TCA005480COL3A1c.2454+3A>T (n.2454+3A>T)
c.2553+3A>T (n.2553+3A>T)
c.2527+29A>T (n.2527+29A>T)
 ClinVar dbSNP
2g.189003067G=CA1315402569COL3A1c.2454+5G= (n.2454+5G=)
c.2553+5G= (n.2553+5G=)
c.2527+31G= (n.2527+31G=)
2g.189003067G>TCA005487COL3A1c.2454+5G>T (n.2454+5G>T)
c.2553+5G>T (n.2553+5G>T)
c.2527+31G>T (n.2527+31G>T)
 ClinVar dbSNP
2g.189003069T>CCA62556418COL3A1c.2454+7T>C (n.2454+7T>C)
c.2553+7T>C (n.2553+7T>C)
c.2527+33T>C (n.2527+33T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003069T=CA1315402570COL3A1c.2454+7T= (n.2454+7T=)
c.2553+7T= (n.2553+7T=)
c.2527+33T= (n.2527+33T=)
2g.189003070C>TCA2662309705COL3A1c.2454+8C>T (n.2454+8C>T)
c.2553+8C>T (n.2553+8C>T)
c.2527+34C>T (n.2527+34C>T)
 gnomAD v4
2g.189003071C>ACA2662309706COL3A1c.2454+9C>A (n.2454+9C>A)
c.2553+9C>A (n.2553+9C>A)
c.2527+35C>A (n.2527+35C>A)
 gnomAD v4
2g.189003071C=CA1315402571COL3A1c.2454+9C= (n.2454+9C=)
c.2553+9C= (n.2553+9C=)
c.2527+35C= (n.2527+35C=)
2g.189003071C>GCA2662309707COL3A1c.2454+9C>G (n.2454+9C>G)
c.2553+9C>G (n.2553+9C>G)
c.2527+35C>G (n.2527+35C>G)
 gnomAD v4
2g.189003071C>TCA10603952COL3A1c.2454+9C>T (n.2454+9C>T)
c.2553+9C>T (n.2553+9C>T)
c.2527+35C>T (n.2527+35C>T)
 ClinVar dbSNP gnomAD v4
2g.189003072T>CCA2701315593COL3A1c.2454+10T>C (n.2454+10T>C)
c.2553+10T>C (n.2553+10T>C)
c.2527+36T>C (n.2527+36T>C)
 dbSNP
2g.189003073T>CCA538448855COL3A1c.2454+11T>C (n.2454+11T>C)
c.2553+11T>C (n.2553+11T>C)
c.2527+37T>C (n.2527+37T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189003073T=CA1315402572COL3A1c.2454+11T= (n.2454+11T=)
c.2553+11T= (n.2553+11T=)
c.2527+37T= (n.2527+37T=)
2g.189003074C>ACA2662309708COL3A1c.2454+12C>A (n.2454+12C>A)
c.2553+12C>A (n.2553+12C>A)
c.2527+38C>A (n.2527+38C>A)
 gnomAD v4
2g.189003074C=CA1315402573COL3A1c.2454+12C= (n.2454+12C=)
c.2553+12C= (n.2553+12C=)
c.2527+38C= (n.2527+38C=)
2g.189003074C>GCA2662309709COL3A1c.2454+12C>G (n.2454+12C>G)
c.2553+12C>G (n.2553+12C>G)
c.2527+38C>G (n.2527+38C>G)
 gnomAD v4
2g.189003074C>TCA075383COL3A1c.2454+12C>T (n.2454+12C>T)
c.2553+12C>T (n.2553+12C>T)
c.2527+38C>T (n.2527+38C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189003074_189003080delinsCCTCTTTCA1315402574COL3A1c.2454+12_2454+18delinsCCTCTTT (n.2454+12_2454+18delinsCCTCTTT)
c.2553+12_2553+18delinsCCTCTTT (n.2553+12_2553+18delinsCCTCTTT)
c.2527+38_2527+44delinsCCTCTTT (n.2527+38_2527+44delinsCCTCTTT)
2g.189003075C>ACA2662309710COL3A1c.2454+13C>A (n.2454+13C>A)
c.2553+13C>A (n.2553+13C>A)
c.2527+39C>A (n.2527+39C>A)
 gnomAD v4
2g.189003075C>TCA2662309711COL3A1c.2454+13C>T (n.2454+13C>T)
c.2553+13C>T (n.2553+13C>T)
c.2527+39C>T (n.2527+39C>T)
 gnomAD v4
2g.189003079_189003084delCA538448856COL3A1c.2454+17_2454+22del (n.2454+17_2454+22del)
c.2553+17_2553+22del (n.2553+17_2553+22del)
c.2527+43_2527+48del (n.2527+43_2527+48del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003077C>ACA2662309712COL3A1c.2454+15C>A (n.2454+15C>A)
c.2553+15C>A (n.2553+15C>A)
c.2527+41C>A (n.2527+41C>A)
 gnomAD v4
2g.189003077C=CA1315402575COL3A1c.2454+15C= (n.2454+15C=)
c.2553+15C= (n.2553+15C=)
c.2527+41C= (n.2527+41C=)
2g.189003077C>GCA2662309713COL3A1c.2454+15C>G (n.2454+15C>G)
c.2553+15C>G (n.2553+15C>G)
c.2527+41C>G (n.2527+41C>G)
 gnomAD v4
2g.189003077C>TCA1315402576COL3A1c.2454+15C>T (n.2454+15C>T)
c.2553+15C>T (n.2553+15C>T)
c.2527+41C>T (n.2527+41C>T)
 dbSNP gnomAD v4
2g.189003080dupCA2662309714COL3A1c.2454+18dup (n.2454+18dup)
c.2553+18dup (n.2553+18dup)
c.2527+44dup (n.2527+44dup)
 gnomAD v4
2g.189003080T>CCA2577185758COL3A1c.2454+18T>C (n.2454+18T>C)
c.2553+18T>C (n.2553+18T>C)
c.2527+44T>C (n.2527+44T>C)
 gnomAD v4
2g.189003080_189003081delinsTCCA1315402577COL3A1c.2454+18_2454+19delinsTC (n.2454+18_2454+19delinsTC)
c.2553+18_2553+19delinsTC (n.2553+18_2553+19delinsTC)
c.2527+44_2527+45delinsTC (n.2527+44_2527+45delinsTC)
2g.189003083_189003084delCA2697551436COL3A1c.2454+21_2454+22del (n.2454+21_2454+22del)
c.2553+21_2553+22del (n.2553+21_2553+22del)
c.2527+47_2527+48del (n.2527+47_2527+48del)
 ClinVar
2g.189003081delCA1315402579COL3A1c.2454+19del (n.2454+19del)
c.2553+19del (n.2553+19del)
c.2527+45del (n.2527+45del)
 dbSNP
2g.189003081C>ACA2662309715COL3A1c.2454+19C>A (n.2454+19C>A)
c.2553+19C>A (n.2553+19C>A)
c.2527+45C>A (n.2527+45C>A)
 gnomAD v4
2g.189003081C>TCA2662309716COL3A1c.2454+19C>T (n.2454+19C>T)
c.2553+19C>T (n.2553+19C>T)
c.2527+45C>T (n.2527+45C>T)
 gnomAD v4
2g.189003081_189003085delinsCTCTGCA1315402578COL3A1c.2454+19_2454+23delinsCTCTG (n.2454+19_2454+23delinsCTCTG)
c.2553+19_2553+23delinsCTCTG (n.2553+19_2553+23delinsCTCTG)
c.2527+45_2527+49delinsCTCTG (n.2527+45_2527+49delinsCTCTG)
2g.189003082T>CCA2662309718COL3A1c.2454+20T>C (n.2454+20T>C)
c.2553+20T>C (n.2553+20T>C)
c.2527+46T>C (n.2527+46T>C)
 gnomAD v4
2g.189003085_189003088delCA62556427COL3A1c.2454+23_2454+26del (n.2454+23_2454+26del)
c.2553+23_2553+26del (n.2553+23_2553+26del)
c.2527+49_2527+52del (n.2527+49_2527+52del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189003093_189003130delCA2662309717COL3A1c.2454+31_2454+68del (n.2454+31_2454+68del)
c.2553+31_2553+68del (n.2553+31_2553+68del)
c.2527+57_2527+94del (n.2527+57_2527+94del)
 gnomAD v4
2g.189003083C>ACA2662309719COL3A1c.2454+21C>A (n.2454+21C>A)
c.2553+21C>A (n.2553+21C>A)
c.2527+47C>A (n.2527+47C>A)
 gnomAD v4
2g.189003083C>GCA2701315595COL3A1c.2454+21C>G (n.2454+21C>G)
c.2553+21C>G (n.2553+21C>G)
c.2527+47C>G (n.2527+47C>G)
 dbSNP
2g.189003085G>ACA1315402581COL3A1c.2454+23G>A (n.2454+23G>A)
c.2553+23G>A (n.2553+23G>A)
c.2527+49G>A (n.2527+49G>A)
 dbSNP gnomAD v4
2g.189003085G=CA1315402580COL3A1c.2454+23G= (n.2454+23G=)
c.2553+23G= (n.2553+23G=)
c.2527+49G= (n.2527+49G=)
2g.189003085_189003089delinsGTCTACA1315402583COL3A1c.2454+23_2454+27delinsGTCTA (n.2454+23_2454+27delinsGTCTA)
c.2553+23_2553+27delinsGTCTA (n.2553+23_2553+27delinsGTCTA)
c.2527+49_2527+53delinsGTCTA (n.2527+49_2527+53delinsGTCTA)
2g.189003085_189003100delinsGTCTATCTATCTATCACA1315402582COL3A1c.2454+23_2454+38delinsGTCTATCTATCTATCA (n.2454+23_2454+38delinsGTCTATCTATCTATCA)
c.2553+23_2553+38delinsGTCTATCTATCTATCA (n.2553+23_2553+38delinsGTCTATCTATCTATCA)
c.2527+49_2527+64delinsGTCTATCTATCTATCA (n.2527+49_2527+64delinsGTCTATCTATCTATCA)
2g.189003086T>ACA2577185759COL3A1c.2454+24T>A (n.2454+24T>A)
c.2553+24T>A (n.2553+24T>A)
c.2527+50T>A (n.2527+50T>A)
2g.189003096_189003099dupCA62556431COL3A1c.2454+34_2454+37dup (n.2454+34_2454+37dup)
c.2553+34_2553+37dup (n.2553+34_2553+37dup)
c.2527+60_2527+63dup (n.2527+60_2527+63dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003096_189003099delCA538448858COL3A1c.2454+34_2454+37del (n.2454+34_2454+37del)
c.2553+34_2553+37del (n.2553+34_2553+37del)
c.2527+60_2527+63del (n.2527+60_2527+63del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003099_189003113dupCA1315402584COL3A1c.2454+37_2454+51dup (n.2454+37_2454+51dup)
c.2553+37_2553+51dup (n.2553+37_2553+51dup)
c.2527+63_2527+77dup (n.2527+63_2527+77dup)
 dbSNP gnomAD v4
2g.189003099_189003113delCA538448857COL3A1c.2454+37_2454+51del (n.2454+37_2454+51del)
c.2553+37_2553+51del (n.2553+37_2553+51del)
c.2527+63_2527+77del (n.2527+63_2527+77del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003087C>ACA2662309720COL3A1c.2454+25C>A (n.2454+25C>A)
c.2553+25C>A (n.2553+25C>A)
c.2527+51C>A (n.2527+51C>A)
 gnomAD v4
2g.189003087C>GCA2662309721COL3A1c.2454+25C>G (n.2454+25C>G)
c.2553+25C>G (n.2553+25C>G)
c.2527+51C>G (n.2527+51C>G)
 gnomAD v4
2g.189003088T>ACA2662309722COL3A1c.2454+26T>A (n.2454+26T>A)
c.2553+26T>A (n.2553+26T>A)
c.2527+52T>A (n.2527+52T>A)
 gnomAD v4
2g.189003088T>CCA2753571848COL3A1c.2454+26T>C (n.2454+26T>C)
c.2553+26T>C (n.2553+26T>C)
c.2527+52T>C (n.2527+52T>C)
2g.189003088_189003099delinsTATCTATCTATCCA1315402585COL3A1c.2454+26_2454+37delinsTATCTATCTATC (n.2454+26_2454+37delinsTATCTATCTATC)
c.2553+26_2553+37delinsTATCTATCTATC (n.2553+26_2553+37delinsTATCTATCTATC)
c.2527+52_2527+63delinsTATCTATCTATC (n.2527+52_2527+63delinsTATCTATCTATC)
2g.189003089A=CA1315402586COL3A1c.2454+27A= (n.2454+27A=)
c.2553+27A= (n.2553+27A=)
c.2527+53A= (n.2527+53A=)
2g.189003089A>GCA538448859COL3A1c.2454+27A>G (n.2454+27A>G)
c.2553+27A>G (n.2553+27A>G)
c.2527+53A>G (n.2527+53A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189003100_189003110delCA075386COL3A1c.2454+38_2454+48del (n.2454+38_2454+48del)
c.2553+38_2553+48del (n.2553+38_2553+48del)
c.2527+64_2527+74del (n.2527+64_2527+74del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189003090T>CCA62556441COL3A1c.2454+28T>C (n.2454+28T>C)
c.2553+28T>C (n.2553+28T>C)
c.2527+54T>C (n.2527+54T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.189003090T=CA1315402587COL3A1c.2454+28T= (n.2454+28T=)
c.2553+28T= (n.2553+28T=)
c.2527+54T= (n.2527+54T=)
2g.189003091C>ACA2662309723COL3A1c.2454+29C>A (n.2454+29C>A)
c.2553+29C>A (n.2553+29C>A)
c.2527+55C>A (n.2527+55C>A)
 gnomAD v4
2g.189003091C>TCA2662309724COL3A1c.2454+29C>T (n.2454+29C>T)
c.2553+29C>T (n.2553+29C>T)
c.2527+55C>T (n.2527+55C>T)
 gnomAD v4
2g.189003092T>ACA2577185760COL3A1c.2454+30T>A (n.2454+30T>A)
c.2553+30T>A (n.2553+30T>A)
c.2527+56T>A (n.2527+56T>A)
2g.189003092T>CCA2662309725COL3A1c.2454+30T>C (n.2454+30T>C)
c.2553+30T>C (n.2553+30T>C)
c.2527+56T>C (n.2527+56T>C)
 gnomAD v4
2g.189003093A>GCA2662309726COL3A1c.2454+31A>G (n.2454+31A>G)
c.2553+31A>G (n.2553+31A>G)
c.2527+57A>G (n.2527+57A>G)
 gnomAD v4
2g.189003094T>CCA538448860COL3A1c.2454+32T>C (n.2454+32T>C)
c.2553+32T>C (n.2553+32T>C)
c.2527+58T>C (n.2527+58T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189003094T>GCA1315402588COL3A1c.2454+32T>G (n.2454+32T>G)
c.2553+32T>G (n.2553+32T>G)
c.2527+58T>G (n.2527+58T>G)
 dbSNP
2g.189003094T=CA1315402589COL3A1c.2454+32T= (n.2454+32T=)
c.2553+32T= (n.2553+32T=)
c.2527+58T= (n.2527+58T=)
2g.189003095C>ACA2662309727COL3A1c.2454+33C>A (n.2454+33C>A)
c.2553+33C>A (n.2553+33C>A)
c.2527+59C>A (n.2527+59C>A)
 gnomAD v4
2g.189003095C=CA1315402590COL3A1c.2454+33C= (n.2454+33C=)
c.2553+33C= (n.2553+33C=)
c.2527+59C= (n.2527+59C=)
2g.189003095C>GCA1315402591COL3A1c.2454+33C>G (n.2454+33C>G)
c.2553+33C>G (n.2553+33C>G)
c.2527+59C>G (n.2527+59C>G)
 dbSNP gnomAD v4
2g.189003095C>TCA762203317COL3A1c.2454+33C>T (n.2454+33C>T)
c.2553+33C>T (n.2553+33C>T)
c.2527+59C>T (n.2527+59C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189003096T>CCA62556445COL3A1c.2454+34T>C (n.2454+34T>C)
c.2553+34T>C (n.2553+34T>C)
c.2527+60T>C (n.2527+60T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.189003096T=CA1315402592COL3A1c.2454+34T= (n.2454+34T=)
c.2553+34T= (n.2553+34T=)
c.2527+60T= (n.2527+60T=)
2g.189003097A=CA1315402593COL3A1c.2454+35A= (n.2454+35A=)
c.2553+35A= (n.2553+35A=)
c.2527+61A= (n.2527+61A=)
2g.189003097A>GCA075389COL3A1c.2454+35A>G (n.2454+35A>G)
c.2553+35A>G (n.2553+35A>G)
c.2527+61A>G (n.2527+61A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189003097A>TCA2662309728COL3A1c.2454+35A>T (n.2454+35A>T)
c.2553+35A>T (n.2553+35A>T)
c.2527+61A>T (n.2527+61A>T)
 gnomAD v4
2g.189003098T>CCA075390COL3A1c.2454+36T>C (n.2454+36T>C)
c.2553+36T>C (n.2553+36T>C)
c.2527+62T>C (n.2527+62T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189003098T=CA1315402594COL3A1c.2454+36T= (n.2454+36T=)
c.2553+36T= (n.2553+36T=)
c.2527+62T= (n.2527+62T=)
2g.189003099C>ACA2577185761COL3A1c.2454+37C>A (n.2454+37C>A)
c.2553+37C>A (n.2553+37C>A)
c.2527+63C>A (n.2527+63C>A)
 gnomAD v4
2g.189003099C=CA1315402595COL3A1c.2454+37C= (n.2454+37C=)
c.2553+37C= (n.2553+37C=)
c.2527+63C= (n.2527+63C=)
2g.189003099C>GCA1315402596COL3A1c.2454+37C>G (n.2454+37C>G)
c.2553+37C>G (n.2553+37C>G)
c.2527+63C>G (n.2527+63C>G)
 dbSNP
2g.189003099C>TCA762203331COL3A1c.2454+37C>T (n.2454+37C>T)
c.2553+37C>T (n.2553+37C>T)
c.2527+63C>T (n.2527+63C>T)
 dbSNP gnomAD v4
2g.189003099_189003100insTCA916734411COL3A1c.2454+37_2454+38insT (n.2454+37_2454+38insT)
c.2553+37_2553+38insT (n.2553+37_2553+38insT)
c.2527+63_2527+64insT (n.2527+63_2527+64insT)
 dbSNP
2g.189003110_189003113dupCA762203337COL3A1c.2454+48_2454+51dup (n.2454+48_2454+51dup)
c.2553+48_2553+51dup (n.2553+48_2553+51dup)
c.2527+74_2527+77dup (n.2527+74_2527+77dup)
 dbSNP gnomAD v4
2g.189003110_189003113delCA2577185762COL3A1c.2454+48_2454+51del (n.2454+48_2454+51del)
c.2553+48_2553+51del (n.2553+48_2553+51del)
c.2527+74_2527+77del (n.2527+74_2527+77del)
 gnomAD v4
2g.189003101T>ACA2577185763COL3A1c.2454+39T>A (n.2454+39T>A)
c.2553+39T>A (n.2553+39T>A)
c.2527+65T>A (n.2527+65T>A)
 gnomAD v4
2g.189003101T>CCA2740351975COL3A1c.2454+39T>C (n.2454+39T>C)
c.2553+39T>C (n.2553+39T>C)
c.2527+65T>C (n.2527+65T>C)
2g.189003102C>ACA2662309729COL3A1c.2454+40C>A (n.2454+40C>A)
c.2553+40C>A (n.2553+40C>A)
c.2527+66C>A (n.2527+66C>A)
 gnomAD v4
2g.189003103T>CCA2662309730COL3A1c.2454+41T>C (n.2454+41T>C)
c.2553+41T>C (n.2553+41T>C)
c.2527+67T>C (n.2527+67T>C)
 gnomAD v4
2g.189003103T>GCA2662309731COL3A1c.2454+41T>G (n.2454+41T>G)
c.2553+41T>G (n.2553+41T>G)
c.2527+67T>G (n.2527+67T>G)
 gnomAD v4
2g.189003104A=CA1315402597COL3A1c.2454+42A= (n.2454+42A=)
c.2553+42A= (n.2553+42A=)
c.2527+68A= (n.2527+68A=)
2g.189003104A>CCA538448861COL3A1c.2454+42A>C (n.2454+42A>C)
c.2553+42A>C (n.2553+42A>C)
c.2527+68A>C (n.2527+68A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003104A>GCA62556475COL3A1c.2454+42A>G (n.2454+42A>G)
c.2553+42A>G (n.2553+42A>G)
c.2527+68A>G (n.2527+68A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003104A>TCA538448862COL3A1c.2454+42A>T (n.2454+42A>T)
c.2553+42A>T (n.2553+42A>T)
c.2527+68A>T (n.2527+68A>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189003105T>CCA2753571849COL3A1c.2454+43T>C (n.2454+43T>C)
c.2553+43T>C (n.2553+43T>C)
c.2527+69T>C (n.2527+69T>C)
2g.189003106C>ACA2662309732COL3A1c.2454+44C>A (n.2454+44C>A)
c.2553+44C>A (n.2553+44C>A)
c.2527+70C>A (n.2527+70C>A)
 gnomAD v4
2g.189003106C>GCA2662309733COL3A1c.2454+44C>G (n.2454+44C>G)
c.2553+44C>G (n.2553+44C>G)
c.2527+70C>G (n.2527+70C>G)
 gnomAD v4
2g.189003107T>ACA2662309734COL3A1c.2454+45T>A (n.2454+45T>A)
c.2553+45T>A (n.2553+45T>A)
c.2527+71T>A (n.2527+71T>A)
 gnomAD v4
2g.189003107T>CCA2662309735COL3A1c.2454+45T>C (n.2454+45T>C)
c.2553+45T>C (n.2553+45T>C)
c.2527+71T>C (n.2527+71T>C)
 gnomAD v4
2g.189003107T>GCA538448863COL3A1c.2454+45T>G (n.2454+45T>G)
c.2553+45T>G (n.2553+45T>G)
c.2527+71T>G (n.2527+71T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189003107T=CA1315402598COL3A1c.2454+45T= (n.2454+45T=)
c.2553+45T= (n.2553+45T=)
c.2527+71T= (n.2527+71T=)
2g.189003108A=CA1315402599COL3A1c.2454+46A= (n.2454+46A=)
c.2553+46A= (n.2553+46A=)
c.2527+72A= (n.2527+72A=)
2g.189003108A>GCA538448864COL3A1c.2454+46A>G (n.2454+46A>G)
c.2553+46A>G (n.2553+46A>G)
c.2527+72A>G (n.2527+72A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189003109T>CCA2662309736COL3A1c.2454+47T>C (n.2454+47T>C)
c.2553+47T>C (n.2553+47T>C)
c.2527+73T>C (n.2527+73T>C)
 gnomAD v4
2g.189003110C>ACA2662309737COL3A1c.2454+48C>A (n.2454+48C>A)
c.2553+48C>A (n.2553+48C>A)
c.2527+74C>A (n.2527+74C>A)
 gnomAD v4
2g.189003110C=CA1315402600COL3A1c.2454+48C= (n.2454+48C=)
c.2553+48C= (n.2553+48C=)
c.2527+74C= (n.2527+74C=)
2g.189003110C>TCA538448865COL3A1c.2454+48C>T (n.2454+48C>T)
c.2553+48C>T (n.2553+48C>T)
c.2527+74C>T (n.2527+74C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189003111T>GCA2662309738COL3A1c.2454+49T>G (n.2454+49T>G)
c.2553+49T>G (n.2553+49T>G)
c.2527+75T>G (n.2527+75T>G)
 gnomAD v4
2g.189003111_189003115delinsTATTGCA1315402601COL3A1c.2454+49_2454+53delinsTATTG (n.2454+49_2454+53delinsTATTG)
c.2553+49_2553+53delinsTATTG (n.2553+49_2553+53delinsTATTG)
c.2527+75_2527+79delinsTATTG (n.2527+75_2527+79delinsTATTG)
2g.189003112A=CA1315402602COL3A1c.2454+50A= (n.2454+50A=)
c.2553+50A= (n.2553+50A=)
c.2527+76A= (n.2527+76A=)
2g.189003112A>GCA1040411162COL3A1c.2454+50A>G (n.2454+50A>G)
c.2553+50A>G (n.2553+50A>G)
c.2527+76A>G (n.2527+76A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189003115_189003118delCA1315402603COL3A1c.2454+53_2454+56del (n.2454+53_2454+56del)
c.2553+53_2553+56del (n.2553+53_2553+56del)
c.2527+79_2527+82del (n.2527+79_2527+82del)
 dbSNP
2g.189003113T>CCA2662309739COL3A1c.2454+51T>C (n.2454+51T>C)
c.2553+51T>C (n.2553+51T>C)
c.2527+77T>C (n.2527+77T>C)
 gnomAD v4
2g.189003113T>GCA62556480COL3A1c.2454+51T>G (n.2454+51T>G)
c.2553+51T>G (n.2553+51T>G)
c.2527+77T>G (n.2527+77T>G)
 dbSNP gnomAD v4
2g.189003113T=CA1315402604COL3A1c.2454+51T= (n.2454+51T=)
c.2553+51T= (n.2553+51T=)
c.2527+77T= (n.2527+77T=)
2g.189003113_189003114insAGATAGACA2662309740COL3A1c.2454+51_2454+52insAGATAGA (n.2454+51_2454+52insAGATAGA)
c.2553+51_2553+52insAGATAGA (n.2553+51_2553+52insAGATAGA)
c.2527+77_2527+78insAGATAGA (n.2527+77_2527+78insAGATAGA)
 gnomAD v4
2g.189003114T>ACA2662309741COL3A1c.2454+52T>A (n.2454+52T>A)
c.2553+52T>A (n.2553+52T>A)
c.2527+78T>A (n.2527+78T>A)
 gnomAD v4
2g.189003114T>CCA538448866COL3A1c.2454+52T>C (n.2454+52T>C)
c.2553+52T>C (n.2553+52T>C)
c.2527+78T>C (n.2527+78T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189003114T=CA1315402605COL3A1c.2454+52T= (n.2454+52T=)
c.2553+52T= (n.2553+52T=)
c.2527+78T= (n.2527+78T=)
2g.189003115G>ACA2662309742COL3A1c.2454+53G>A (n.2454+53G>A)
c.2553+53G>A (n.2553+53G>A)
c.2527+79G>A (n.2527+79G>A)
 gnomAD v4
2g.189003115G>TCA2662309743COL3A1c.2454+53G>T (n.2454+53G>T)
c.2553+53G>T (n.2553+53G>T)
c.2527+79G>T (n.2527+79G>T)
 gnomAD v4
2g.189003116A=CA1315402606COL3A1c.2454+54A= (n.2454+54A=)
c.2553+54A= (n.2553+54A=)
c.2527+80A= (n.2527+80A=)
2g.189003116A>GCA62556481COL3A1c.2454+54A>G (n.2454+54A>G)
c.2553+54A>G (n.2553+54A>G)
c.2527+80A>G (n.2527+80A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189003116A>TCA1315402607COL3A1c.2454+54A>T (n.2454+54A>T)
c.2553+54A>T (n.2553+54A>T)
c.2527+80A>T (n.2527+80A>T)
 dbSNP gnomAD v4
2g.189003117T>ACA1315402609COL3A1c.2454+55T>A (n.2454+55T>A)
c.2553+55T>A (n.2553+55T>A)
c.2527+81T>A (n.2527+81T>A)
 dbSNP gnomAD v4
2g.189003117T=CA1315402608COL3A1c.2454+55T= (n.2454+55T=)
c.2553+55T= (n.2553+55T=)
c.2527+81T= (n.2527+81T=)
2g.189003117_189003118insAGATGACA2662309744COL3A1c.2454+55_2454+56insAGATGA (n.2454+55_2454+56insAGATGA)
c.2553+55_2553+56insAGATGA (n.2553+55_2553+56insAGATGA)
c.2527+81_2527+82insAGATGA (n.2527+81_2527+82insAGATGA)
 gnomAD v4
2g.189003118T>ACA15185714COL3A1c.2454+56T>A (n.2454+56T>A)
c.2553+56T>A (n.2553+56T>A)
c.2527+82T>A (n.2527+82T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003118T>CCA1315402611COL3A1c.2454+56T>C (n.2454+56T>C)
c.2553+56T>C (n.2553+56T>C)
c.2527+82T>C (n.2527+82T>C)
 dbSNP
2g.189003118T>GCA2581840829COL3A1c.2454+56T>G (n.2454+56T>G)
c.2553+56T>G (n.2553+56T>G)
c.2527+82T>G (n.2527+82T>G)
2g.189003118T=CA1315402610COL3A1c.2454+56T= (n.2454+56T=)
c.2553+56T= (n.2553+56T=)
c.2527+82T= (n.2527+82T=)
2g.189003119A=CA1315402612COL3A1c.2454+57A= (n.2454+57A=)
c.2553+57A= (n.2553+57A=)
c.2527+83A= (n.2527+83A=)
2g.189003119A>GCA2662309745COL3A1c.2454+57A>G (n.2454+57A>G)
c.2553+57A>G (n.2553+57A>G)
c.2527+83A>G (n.2527+83A>G)
 gnomAD v4
2g.189003119A>TCA1315402613COL3A1c.2454+57A>T (n.2454+57A>T)
c.2553+57A>T (n.2553+57A>T)
c.2527+83A>T (n.2527+83A>T)
 dbSNP
2g.189003120_189003121delinsTCCA1315402614COL3A1c.2454+58_2454+59delinsTC (n.2454+58_2454+59delinsTC)
c.2553+58_2553+59delinsTC (n.2553+58_2553+59delinsTC)
c.2527+84_2527+85delinsTC (n.2527+84_2527+85delinsTC)
2g.189003123_189003126delCA2662309746COL3A1c.2454+61_2454+64del (n.2454+61_2454+64del)
c.2553+61_2553+64del (n.2553+61_2553+64del)
c.2527+87_2527+90del (n.2527+87_2527+90del)
 gnomAD v4
2g.189003121delCA916734412COL3A1c.2454+59del (n.2454+59del)
c.2553+59del (n.2553+59del)
c.2527+85del (n.2527+85del)
 dbSNP
2g.189003121C>ACA1315402616COL3A1c.2454+59C>A (n.2454+59C>A)
c.2553+59C>A (n.2553+59C>A)
c.2527+85C>A (n.2527+85C>A)
 dbSNP gnomAD v4
2g.189003121C=CA1315402615COL3A1c.2454+59C= (n.2454+59C=)
c.2553+59C= (n.2553+59C=)
c.2527+85C= (n.2527+85C=)
2g.189003122T>ACA2662309747COL3A1c.2454+60T>A (n.2454+60T>A)
c.2553+60T>A (n.2553+60T>A)
c.2527+86T>A (n.2527+86T>A)
 gnomAD v4
2g.189003122T>CCA2662309748COL3A1c.2454+60T>C (n.2454+60T>C)
c.2553+60T>C (n.2553+60T>C)
c.2527+86T>C (n.2527+86T>C)
 gnomAD v4
2g.189003123G>ACA2753571850COL3A1c.2454+61G>A (n.2454+61G>A)
c.2553+61G>A (n.2553+61G>A)
c.2527+87G>A (n.2527+87G>A)
2g.189003123G>CCA2662309749COL3A1c.2454+61G>C (n.2454+61G>C)
c.2553+61G>C (n.2553+61G>C)
c.2527+87G>C (n.2527+87G>C)
 dbSNP gnomAD v4
2g.189003123G=CA1315402617COL3A1c.2454+61G= (n.2454+61G=)
c.2553+61G= (n.2553+61G=)
c.2527+87G= (n.2527+87G=)
2g.189003123G>TCA1040411170COL3A1c.2454+61G>T (n.2454+61G>T)
c.2553+61G>T (n.2553+61G>T)
c.2527+87G>T (n.2527+87G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189003124T>CCA2662309750COL3A1c.2454+62T>C (n.2454+62T>C)
c.2553+62T>C (n.2553+62T>C)
c.2527+88T>C (n.2527+88T>C)
 gnomAD v4

Number of alleles fetched