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.189004110A>CCA430312080COL3A1c.2691A>C (p.Gly897=)
c.2790A>C (p.Gly930=)
c.2527+1074A>C (n.2527+1074A>C)
2g.189004110A>GCA430312081COL3A1c.2691A>G (p.Gly897=)
c.2790A>G (p.Gly930=)
c.2527+1074A>G (n.2527+1074A>G)
 gnomAD v4
2g.189004110A>TCA430312082COL3A1c.2691A>T (p.Gly897=)
c.2790A>T (p.Gly930=)
c.2527+1074A>T (n.2527+1074A>T)
2g.189004111G>ACA349844188COL3A1c.2692G>A (p.Glu898Lys)
c.2791G>A (p.Glu931Lys)
c.2527+1075G>A (n.2527+1075G>A)
 ClinVar dbSNP gnomAD v4
2g.189004111G>CCA349844191COL3A1c.2692G>C (p.Glu898Gln)
c.2791G>C (p.Glu931Gln)
c.2527+1075G>C (n.2527+1075G>C)
 ClinVar gnomAD v4
2g.189004111G=CA1315403063COL3A1c.2692G= (p.Glu898=)
c.2791G= (p.Glu931=)
c.2527+1075G= (n.2527+1075G=)
2g.189004111G>TCA349844192COL3A1c.2692G>T (p.Glu898Ter)
c.2791G>T (p.Glu931Ter)
c.2527+1075G>T (n.2527+1075G>T)
2g.189004112A>CCA349844195COL3A1c.2693A>C (p.Glu898Ala)
c.2792A>C (p.Glu931Ala)
c.2527+1076A>C (n.2527+1076A>C)
2g.189004112A>GCA349844197COL3A1c.2693A>G (p.Glu898Gly)
c.2792A>G (p.Glu931Gly)
c.2527+1076A>G (n.2527+1076A>G)
2g.189004112A>TCA349844199COL3A1c.2693A>T (p.Glu898Val)
c.2792A>T (p.Glu931Val)
c.2527+1076A>T (n.2527+1076A>T)
2g.189004113G>ACA430312085COL3A1c.2694G>A (p.Glu898=)
c.2793G>A (p.Glu931=)
c.2527+1077G>A (n.2527+1077G>A)
2g.189004113G>CCA349844202COL3A1c.2694G>C (p.Glu898Asp)
c.2793G>C (p.Glu931Asp)
c.2527+1077G>C (n.2527+1077G>C)
2g.189004113G=CA1315403064COL3A1c.2694G= (p.Glu898=)
c.2793G= (p.Glu931=)
c.2527+1077G= (n.2527+1077G=)
2g.189004113G>TCA62557445COL3A1c.2694G>T (p.Glu898Asp)
c.2793G>T (p.Glu931Asp)
c.2527+1077G>T (n.2527+1077G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189004114A>CCA349844208COL3A1c.2695A>C (p.Lys899Gln)
c.2794A>C (p.Lys932Gln)
c.2527+1078A>C (n.2527+1078A>C)
2g.189004114A>GCA349844210COL3A1c.2695A>G (p.Lys899Glu)
c.2794A>G (p.Lys932Glu)
c.2527+1078A>G (n.2527+1078A>G)
2g.189004114A>TCA349844206COL3A1c.2695A>T (p.Lys899Ter)
c.2794A>T (p.Lys932Ter)
c.2527+1078A>T (n.2527+1078A>T)
2g.189004115A>CCA349844216COL3A1c.2696A>C (p.Lys899Thr)
c.2795A>C (p.Lys932Thr)
c.2527+1079A>C (n.2527+1079A>C)
2g.189004115A>GCA349844213COL3A1c.2696A>G (p.Lys899Arg)
c.2795A>G (p.Lys932Arg)
c.2527+1079A>G (n.2527+1079A>G)
2g.189004115A>TCA349844215COL3A1c.2696A>T (p.Lys899Met)
c.2795A>T (p.Lys932Met)
c.2527+1079A>T (n.2527+1079A>T)
2g.189004116G>ACA430312089COL3A1c.2697G>A (p.Lys899=)
c.2796G>A (p.Lys932=)
c.2527+1080G>A (n.2527+1080G>A)
2g.189004116G>CCA349844220COL3A1c.2697G>C (p.Lys899Asn)
c.2796G>C (p.Lys932Asn)
c.2527+1080G>C (n.2527+1080G>C)
 dbSNP
2g.189004116G=CA1315403065COL3A1c.2697G= (p.Lys899=)
c.2796G= (p.Lys932=)
c.2527+1080G= (n.2527+1080G=)
2g.189004116G>TCA349844221COL3A1c.2697G>T (p.Lys899Asn)
c.2796G>T (p.Lys932Asn)
c.2527+1080G>T (n.2527+1080G>T)
2g.189004118dupCA1139771222COL3A1c.2699dup (p.Ser901IlefsTer?)
c.2798dup (p.Ser934IlefsTer?)
c.2527+1082dup (n.2527+1082dup)
2g.189004117G>ACA349844225COL3A1c.2698G>A (p.Gly900Arg)
c.2797G>A (p.Gly933Arg)
c.2527+1081G>A (n.2527+1081G>A)
 ClinVar dbSNP COSMIC
2g.189004117G>CCA349844226COL3A1c.2698G>C (p.Gly900Arg)
c.2797G>C (p.Gly933Arg)
c.2527+1081G>C (n.2527+1081G>C)
2g.189004117G=CA1315403066COL3A1c.2698G= (p.Gly900=)
c.2797G= (p.Gly933=)
c.2527+1081G= (n.2527+1081G=)
2g.189004117G>TCA349844227COL3A1c.2698G>T (p.Gly900Ter)
c.2797G>T (p.Gly933Ter)
c.2527+1081G>T (n.2527+1081G>T)
 ClinVar
2g.189004118G>ACA349844228COL3A1c.2699G>A (p.Gly900Glu)
c.2798G>A (p.Gly933Glu)
c.2527+1082G>A (n.2527+1082G>A)
 COSMIC
2g.189004118G>CCA349844230COL3A1c.2699G>C (p.Gly900Ala)
c.2798G>C (p.Gly933Ala)
c.2527+1082G>C (n.2527+1082G>C)
2g.189004118G>TCA349844231COL3A1c.2699G>T (p.Gly900Val)
c.2798G>T (p.Gly933Val)
c.2527+1082G>T (n.2527+1082G>T)
 COSMIC
2g.189004119A=CA1315403067COL3A1c.2700A= (p.Gly900=)
c.2799A= (p.Gly933=)
c.2527+1083A= (n.2527+1083A=)
2g.189004119A>CCA430312093COL3A1c.2700A>C (p.Gly900=)
c.2799A>C (p.Gly933=)
c.2527+1083A>C (n.2527+1083A>C)
2g.189004119A>GCA430312094COL3A1c.2700A>G (p.Gly900=)
c.2799A>G (p.Gly933=)
c.2527+1083A>G (n.2527+1083A>G)
2g.189004119A>TCA430312095COL3A1c.2700A>T (p.Gly900=)
c.2799A>T (p.Gly933=)
c.2527+1083A>T (n.2527+1083A>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189004120T>ACA349844234COL3A1c.2701T>A (p.Ser901Thr)
c.2800T>A (p.Ser934Thr)
c.2527+1084T>A (n.2527+1084T>A)
2g.189004120T>CCA349844236COL3A1c.2701T>C (p.Ser901Pro)
c.2800T>C (p.Ser934Pro)
c.2527+1084T>C (n.2527+1084T>C)
2g.189004120T>GCA349844238COL3A1c.2701T>G (p.Ser901Ala)
c.2800T>G (p.Ser934Ala)
c.2527+1084T>G (n.2527+1084T>G)
2g.189004121delCA2580065357COL3A1c.2702del (p.Ser901CysfsTer?)
c.2801del (p.Ser934CysfsTer?)
c.2527+1085del (n.2527+1085del)
 ClinVar
2g.189004121C>ACA349844241COL3A1c.2702C>A (p.Ser901Ter)
c.2801C>A (p.Ser934Ter)
c.2527+1085C>A (n.2527+1085C>A)
2g.189004121C=CA1315403068COL3A1c.2702C= (p.Ser901=)
c.2801C= (p.Ser934=)
c.2527+1085C= (n.2527+1085C=)
2g.189004121C>GCA349844243COL3A1c.2702C>G (p.Ser901Trp)
c.2801C>G (p.Ser934Trp)
c.2527+1085C>G (n.2527+1085C>G)
2g.189004121C>TCA10587533COL3A1c.2702C>T (p.Ser901Leu)
c.2801C>T (p.Ser934Leu)
c.2527+1085C>T (n.2527+1085C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.189004122G>ACA075594COL3A1c.2703G>A (p.Ser901=)
c.2802G>A (p.Ser934=)
c.2527+1086G>A (n.2527+1086G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189004122G>CCA430312096COL3A1c.2703G>C (p.Ser901=)
c.2802G>C (p.Ser934=)
c.2527+1086G>C (n.2527+1086G>C)
2g.189004122G=CA1315403069COL3A1c.2703G= (p.Ser901=)
c.2802G= (p.Ser934=)
c.2527+1086G= (n.2527+1086G=)
2g.189004122G>TCA430312097COL3A1c.2703G>T (p.Ser901=)
c.2802G>T (p.Ser934=)
c.2527+1086G>T (n.2527+1086G>T)
 ClinVar gnomAD v4
2g.189004123C>ACA075597COL3A1c.2704C>A (p.Pro902Thr)
c.2803C>A (p.Pro935Thr)
c.2527+1087C>A (n.2527+1087C>A)
 dbSNP ExAC gnomAD v2
2g.189004123C=CA1315403070COL3A1c.2704C= (p.Pro902=)
c.2803C= (p.Pro935=)
c.2527+1087C= (n.2527+1087C=)
2g.189004123C>GCA349844246COL3A1c.2704C>G (p.Pro902Ala)
c.2803C>G (p.Pro935Ala)
c.2527+1087C>G (n.2527+1087C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189004123C>TCA349844247COL3A1c.2704C>T (p.Pro902Ser)
c.2803C>T (p.Pro935Ser)
c.2527+1087C>T (n.2527+1087C>T)
2g.189004124C>ACA349844248COL3A1c.2705C>A (p.Pro902His)
c.2804C>A (p.Pro935His)
c.2527+1088C>A (n.2527+1088C>A)
2g.189004124C=CA1315403071COL3A1c.2705C= (p.Pro902=)
c.2804C= (p.Pro935=)
c.2527+1088C= (n.2527+1088C=)
2g.189004124C>GCA349844251COL3A1c.2705C>G (p.Pro902Arg)
c.2804C>G (p.Pro935Arg)
c.2527+1088C>G (n.2527+1088C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189004124C>TCA349844252COL3A1c.2705C>T (p.Pro902Leu)
c.2804C>T (p.Pro935Leu)
c.2527+1088C>T (n.2527+1088C>T)
2g.189004125T>ACA430312100COL3A1c.2706T>A (p.Pro902=)
c.2805T>A (p.Pro935=)
c.2527+1089T>A (n.2527+1089T>A)
2g.189004125T>CCA005687COL3A1c.2706T>C (p.Pro902=)
c.2805T>C (p.Pro935=)
c.2527+1089T>C (n.2527+1089T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189004125T>GCA430312101COL3A1c.2706T>G (p.Pro902=)
c.2805T>G (p.Pro935=)
c.2527+1089T>G (n.2527+1089T>G)
2g.189004125T=CA1315403072COL3A1c.2706T= (p.Pro902=)
c.2805T= (p.Pro935=)
c.2527+1089T= (n.2527+1089T=)
2g.189004126G>ACA349844256COL3A1c.2707G>A (p.Gly903Ser)
c.2806G>A (p.Gly936Ser)
c.2527+1090G>A (n.2527+1090G>A)
2g.189004126G>CCA005694COL3A1c.2707G>C (p.Gly903Arg)
c.2806G>C (p.Gly936Arg)
c.2527+1090G>C (n.2527+1090G>C)
 ClinVar dbSNP
2g.189004126G=CA1315403073COL3A1c.2707G= (p.Gly903=)
c.2806G= (p.Gly936=)
c.2527+1090G= (n.2527+1090G=)
2g.189004126G>TCA349844259COL3A1c.2707G>T (p.Gly903Cys)
c.2806G>T (p.Gly936Cys)
c.2527+1090G>T (n.2527+1090G>T)
2g.189004127G>ACA349844264COL3A1c.2708G>A (p.Gly903Asp)
c.2807G>A (p.Gly936Asp)
c.2527+1091G>A (n.2527+1091G>A)
2g.189004127G>CCA349844267COL3A1c.2708G>C (p.Gly903Ala)
c.2807G>C (p.Gly936Ala)
c.2527+1091G>C (n.2527+1091G>C)
2g.189004127G>TCA349844262COL3A1c.2708G>T (p.Gly903Val)
c.2807G>T (p.Gly936Val)
c.2527+1091G>T (n.2527+1091G>T)
2g.189004128T>ACA430312107COL3A1c.2709T>A (p.Gly903=)
c.2808T>A (p.Gly936=)
c.2527+1092T>A (n.2527+1092T>A)
2g.189004128T>CCA430312108COL3A1c.2709T>C (p.Gly903=)
c.2808T>C (p.Gly936=)
c.2527+1092T>C (n.2527+1092T>C)
 COSMIC
2g.189004128T>GCA430312109COL3A1c.2709T>G (p.Gly903=)
c.2808T>G (p.Gly936=)
c.2527+1092T>G (n.2527+1092T>G)
2g.189004129G>ACA349844269COL3A1c.2710G>A (p.Ala904Thr)
c.2809G>A (p.Ala937Thr)
c.2527+1093G>A (n.2527+1093G>A)
 ClinVar dbSNP gnomAD v4
2g.189004129G>CCA349844271COL3A1c.2710G>C (p.Ala904Pro)
c.2809G>C (p.Ala937Pro)
c.2527+1093G>C (n.2527+1093G>C)
2g.189004129G=CA1315403074COL3A1c.2710G= (p.Ala904=)
c.2809G= (p.Ala937=)
c.2527+1093G= (n.2527+1093G=)
2g.189004129G>TCA349844272COL3A1c.2710G>T (p.Ala904Ser)
c.2809G>T (p.Ala937Ser)
c.2527+1093G>T (n.2527+1093G>T)
 dbSNP COSMIC
2g.189004130C>ACA349844275COL3A1c.2711C>A (p.Ala904Asp)
c.2810C>A (p.Ala937Asp)
c.2527+1094C>A (n.2527+1094C>A)
 COSMIC
2g.189004130C=CA1315403075COL3A1c.2711C= (p.Ala904=)
c.2810C= (p.Ala937=)
c.2527+1094C= (n.2527+1094C=)
2g.189004130C>GCA349844277COL3A1c.2711C>G (p.Ala904Gly)
c.2810C>G (p.Ala937Gly)
c.2527+1094C>G (n.2527+1094C>G)
 dbSNP gnomAD v2
2g.189004130C>TCA349844278COL3A1c.2711C>T (p.Ala904Val)
c.2810C>T (p.Ala937Val)
c.2527+1094C>T (n.2527+1094C>T)
2g.189004131C>ACA430312116COL3A1c.2712C>A (p.Ala904=)
c.2811C>A (p.Ala937=)
c.2527+1095C>A (n.2527+1095C>A)
2g.189004131C>GCA430312117COL3A1c.2712C>G (p.Ala904=)
c.2811C>G (p.Ala937=)
c.2527+1095C>G (n.2527+1095C>G)
2g.189004131C>TCA430312118COL3A1c.2712C>T (p.Ala904=)
c.2811C>T (p.Ala937=)
c.2527+1095C>T (n.2527+1095C>T)
2g.189004132C>ACA349844285COL3A1c.2713C>A (p.Gln905Lys)
c.2812C>A (p.Gln938Lys)
c.2527+1096C>A (n.2527+1096C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189004132C=CA1315403076COL3A1c.2713C= (p.Gln905=)
c.2812C= (p.Gln938=)
c.2527+1096C= (n.2527+1096C=)
2g.189004132C>GCA349844281COL3A1c.2713C>G (p.Gln905Glu)
c.2812C>G (p.Gln938Glu)
c.2527+1096C>G (n.2527+1096C>G)
2g.189004132C>TCA349844283COL3A1c.2713C>T (p.Gln905Ter)
c.2812C>T (p.Gln938Ter)
c.2527+1096C>T (n.2527+1096C>T)
2g.189004133A>CCA349844288COL3A1c.2714A>C (p.Gln905Pro)
c.2813A>C (p.Gln938Pro)
c.2527+1097A>C (n.2527+1097A>C)
2g.189004133A>GCA349844290COL3A1c.2714A>G (p.Gln905Arg)
c.2813A>G (p.Gln938Arg)
c.2527+1097A>G (n.2527+1097A>G)
2g.189004133A>TCA349844292COL3A1c.2714A>T (p.Gln905Leu)
c.2813A>T (p.Gln938Leu)
c.2527+1097A>T (n.2527+1097A>T)
2g.189004134G>ACA430312121COL3A1c.2715G>A (p.Gln905=)
c.2814G>A (p.Gln938=)
c.2527+1098G>A (n.2527+1098G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189004134G>CCA349844295COL3A1c.2715G>C (p.Gln905His)
c.2814G>C (p.Gln938His)
c.2527+1098G>C (n.2527+1098G>C)
2g.189004134G=CA1315403077COL3A1c.2715G= (p.Gln905=)
c.2814G= (p.Gln938=)
c.2527+1098G= (n.2527+1098G=)
2g.189004134G>TCA349844296COL3A1c.2715G>T (p.Gln905His)
c.2814G>T (p.Gln938His)
c.2527+1098G>T (n.2527+1098G>T)
2g.189004135G>ACA005700COL3A1c.2716G>A (p.Gly906Ser)
c.2815G>A (p.Gly939Ser)
c.2527+1099G>A (n.2527+1099G>A)
 ClinVar dbSNP COSMIC
2g.189004135G>CCA349844302COL3A1c.2716G>C (p.Gly906Arg)
c.2815G>C (p.Gly939Arg)
c.2527+1099G>C (n.2527+1099G>C)
 ClinVar dbSNP
2g.189004135G=CA1315403078COL3A1c.2716G= (p.Gly906=)
c.2815G= (p.Gly939=)
c.2527+1099G= (n.2527+1099G=)
2g.189004135G>TCA005707COL3A1c.2716G>T (p.Gly906Cys)
c.2815G>T (p.Gly939Cys)
c.2527+1099G>T (n.2527+1099G>T)
 ClinVar dbSNP
2g.189004136G>ACA62557487COL3A1c.2717G>A (p.Gly906Asp)
c.2816G>A (p.Gly939Asp)
c.2527+1100G>A (n.2527+1100G>A)
 dbSNP COSMIC
2g.189004136G>CCA349844306COL3A1c.2717G>C (p.Gly906Ala)
c.2816G>C (p.Gly939Ala)
c.2527+1100G>C (n.2527+1100G>C)
2g.189004136G=CA1315403079COL3A1c.2717G= (p.Gly906=)
c.2816G= (p.Gly939=)
c.2527+1100G= (n.2527+1100G=)
2g.189004136G>TCA349844308COL3A1c.2717G>T (p.Gly906Val)
c.2816G>T (p.Gly939Val)
c.2527+1100G>T (n.2527+1100G>T)
2g.189004137C>ACA430312128COL3A1c.2718C>A (p.Gly906=)
c.2817C>A (p.Gly939=)
c.2527+1101C>A (n.2527+1101C>A)
 dbSNP gnomAD v2
2g.189004137C=CA1315403080COL3A1c.2718C= (p.Gly906=)
c.2817C= (p.Gly939=)
c.2527+1101C= (n.2527+1101C=)
2g.189004137C>GCA430312126COL3A1c.2718C>G (p.Gly906=)
c.2817C>G (p.Gly939=)
c.2527+1101C>G (n.2527+1101C>G)
2g.189004137C>TCA430312127COL3A1c.2718C>T (p.Gly906=)
c.2817C>T (p.Gly939=)
c.2527+1101C>T (n.2527+1101C>T)
 gnomAD v4
2g.189004138C>ACA349844311COL3A1c.2719C>A (p.Pro907Thr)
c.2818C>A (p.Pro940Thr)
c.2527+1102C>A (n.2527+1102C>A)
 gnomAD v4
2g.189004138C>GCA349844313COL3A1c.2719C>G (p.Pro907Ala)
c.2818C>G (p.Pro940Ala)
c.2527+1102C>G (n.2527+1102C>G)
2g.189004138C>TCA349844316COL3A1c.2719C>T (p.Pro907Ser)
c.2818C>T (p.Pro940Ser)
c.2527+1102C>T (n.2527+1102C>T)
2g.189004139C>ACA349844319COL3A1c.2720C>A (p.Pro907Gln)
c.2819C>A (p.Pro940Gln)
c.2527+1103C>A (n.2527+1103C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189004139C=CA1315403081COL3A1c.2720C= (p.Pro907=)
c.2819C= (p.Pro940=)
c.2527+1103C= (n.2527+1103C=)
2g.189004139C>GCA349844320COL3A1c.2720C>G (p.Pro907Arg)
c.2819C>G (p.Pro940Arg)
c.2527+1103C>G (n.2527+1103C>G)
2g.189004139C>TCA349844322COL3A1c.2720C>T (p.Pro907Leu)
c.2819C>T (p.Pro940Leu)
c.2527+1103C>T (n.2527+1103C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189004140A>CCA430312130COL3A1c.2721A>C (p.Pro907=)
c.2820A>C (p.Pro940=)
c.2527+1104A>C (n.2527+1104A>C)
2g.189004140A>GCA430312133COL3A1c.2721A>G (p.Pro907=)
c.2820A>G (p.Pro940=)
c.2527+1104A>G (n.2527+1104A>G)
2g.189004140A>TCA430312135COL3A1c.2721A>T (p.Pro907=)
c.2820A>T (p.Pro940=)
c.2527+1104A>T (n.2527+1104A>T)
2g.189004141C>ACA349844325COL3A1c.2722C>A (p.Pro908Thr)
c.2821C>A (p.Pro941Thr)
c.2527+1105C>A (n.2527+1105C>A)
 COSMIC
2g.189004141C>GCA349844326COL3A1c.2722C>G (p.Pro908Ala)
c.2821C>G (p.Pro941Ala)
c.2527+1105C>G (n.2527+1105C>G)
2g.189004141C>TCA349844329COL3A1c.2722C>T (p.Pro908Ser)
c.2821C>T (p.Pro941Ser)
c.2527+1105C>T (n.2527+1105C>T)
2g.189004142C>ACA349844335COL3A1c.2723C>A (p.Pro908Gln)
c.2822C>A (p.Pro941Gln)
c.2527+1106C>A (n.2527+1106C>A)
2g.189004142C=CA1315403082COL3A1c.2723C= (p.Pro908=)
c.2822C= (p.Pro941=)
c.2527+1106C= (n.2527+1106C=)
2g.189004142C>GCA349844333COL3A1c.2723C>G (p.Pro908Arg)
c.2822C>G (p.Pro941Arg)
c.2527+1106C>G (n.2527+1106C>G)
2g.189004142C>TCA075607COL3A1c.2723C>T (p.Pro908Leu)
c.2822C>T (p.Pro941Leu)
c.2527+1106C>T (n.2527+1106C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189004143A>CCA430312143COL3A1c.2724A>C (p.Pro908=)
c.2823A>C (p.Pro941=)
c.2527+1107A>C (n.2527+1107A>C)
2g.189004143A>GCA430312142COL3A1c.2724A>G (p.Pro908=)
c.2823A>G (p.Pro941=)
c.2527+1107A>G (n.2527+1107A>G)
2g.189004143A>TCA430312144COL3A1c.2724A>T (p.Pro908=)
c.2823A>T (p.Pro941=)
c.2527+1107A>T (n.2527+1107A>T)
2g.189004148_189004151delCA2662310065COL3A1c.2724+5_2724+8del
c.2823+5_2823+8del
c.2527+1112_2527+1115del (n.2527+1112_2527+1115del)
 ClinVar gnomAD v4
2g.189004144G>ACA005713COL3A1c.2724+1G>A (n.2724+1G>A)
c.2823+1G>A (n.2823+1G>A)
c.2527+1108G>A (n.2527+1108G>A)
 ClinVar dbSNP
2g.189004144G>CCA349844342COL3A1c.2724+1G>C (n.2724+1G>C)
c.2823+1G>C (n.2823+1G>C)
c.2527+1108G>C (n.2527+1108G>C)
2g.189004144G=CA1315403083COL3A1c.2724+1G= (n.2724+1G=)
c.2823+1G= (n.2823+1G=)
c.2527+1108G= (n.2527+1108G=)
2g.189004144G>TCA349844340COL3A1c.2724+1G>T (n.2724+1G>T)
c.2823+1G>T (n.2823+1G>T)
c.2527+1108G>T (n.2527+1108G>T)
 ClinVar dbSNP
2g.189004145_189004257delCA2753571887COL3A1c.2724+2_2725del
c.2823+2_2824del
c.2527+1109_2527+1221del (n.2527+1109_2527+1221del)
2g.189004145T>ACA349844344COL3A1c.2724+2T>A (n.2724+2T>A)
c.2823+2T>A (n.2823+2T>A)
c.2527+1109T>A (n.2527+1109T>A)
2g.189004145T>CCA349844349COL3A1c.2724+2T>C (n.2724+2T>C)
c.2823+2T>C (n.2823+2T>C)
c.2527+1109T>C (n.2527+1109T>C)
2g.189004145T>GCA349844347COL3A1c.2724+2T>G (n.2724+2T>G)
c.2823+2T>G (n.2823+2T>G)
c.2527+1109T>G (n.2527+1109T>G)
2g.189004146A>TCA2662310066COL3A1c.2724+3A>T (n.2724+3A>T)
c.2823+3A>T (n.2823+3A>T)
c.2527+1110A>T (n.2527+1110A>T)
 gnomAD v4
2g.189004147A>GCA2825001057COL3A1c.2724+4A>G (n.2724+4A>G)
c.2823+4A>G (n.2823+4A>G)
c.2527+1111A>G (n.2527+1111A>G)
 ClinVar
2g.189004148G>ACA1139657567COL3A1c.2724+5G>A (n.2724+5G>A)
c.2823+5G>A (n.2823+5G>A)
c.2527+1112G>A (n.2527+1112G>A)
 ClinVar dbSNP gnomAD v4
2g.189004148G>CCA913187997COL3A1c.2724+5G>C (n.2724+5G>C)
c.2823+5G>C (n.2823+5G>C)
c.2527+1112G>C (n.2527+1112G>C)
 ClinVar dbSNP
2g.189004148G=CA1315403084COL3A1c.2724+5G= (n.2724+5G=)
c.2823+5G= (n.2823+5G=)
c.2527+1112G= (n.2527+1112G=)
2g.189004151A=CA1315403085COL3A1c.2724+8A= (n.2724+8A=)
c.2823+8A= (n.2823+8A=)
c.2527+1115A= (n.2527+1115A=)
2g.189004151A>GCA1315403086COL3A1c.2724+8A>G (n.2724+8A>G)
c.2823+8A>G (n.2823+8A>G)
c.2527+1115A>G (n.2527+1115A>G)
 dbSNP
2g.189004152C=CA1315403087COL3A1c.2724+9C= (n.2724+9C=)
c.2823+9C= (n.2823+9C=)
c.2527+1116C= (n.2527+1116C=)
2g.189004152C>TCA762204398COL3A1c.2724+9C>T (n.2724+9C>T)
c.2823+9C>T (n.2823+9C>T)
c.2527+1116C>T (n.2527+1116C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189004153T>ACA075609COL3A1c.2724+10T>A (n.2724+10T>A)
c.2823+10T>A (n.2823+10T>A)
c.2527+1117T>A (n.2527+1117T>A)
 dbSNP ExAC gnomAD v2
2g.189004153T>CCA538476930COL3A1c.2724+10T>C (n.2724+10T>C)
c.2823+10T>C (n.2823+10T>C)
c.2527+1117T>C (n.2527+1117T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189004153T=CA1315403088COL3A1c.2724+10T= (n.2724+10T=)
c.2823+10T= (n.2823+10T=)
c.2527+1117T= (n.2527+1117T=)
2g.189004156A=CA1315403089COL3A1c.2724+13A= (n.2724+13A=)
c.2823+13A= (n.2823+13A=)
c.2527+1120A= (n.2527+1120A=)
2g.189004156A>CCA538476935COL3A1c.2724+13A>C (n.2724+13A>C)
c.2823+13A>C (n.2823+13A>C)
c.2527+1120A>C (n.2527+1120A>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189004156A>GCA2662310067COL3A1c.2724+13A>G (n.2724+13A>G)
c.2823+13A>G (n.2823+13A>G)
c.2527+1120A>G (n.2527+1120A>G)
 gnomAD v4
2g.189004156A>TCA2662310068COL3A1c.2724+13A>T (n.2724+13A>T)
c.2823+13A>T (n.2823+13A>T)
c.2527+1120A>T (n.2527+1120A>T)
 gnomAD v4
2g.189004157T>CCA075612COL3A1c.2724+14T>C (n.2724+14T>C)
c.2823+14T>C (n.2823+14T>C)
c.2527+1121T>C (n.2527+1121T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189004157T=CA1315403091COL3A1c.2724+14T= (n.2724+14T=)
c.2823+14T= (n.2823+14T=)
c.2527+1121T= (n.2527+1121T=)
2g.189004163dupCA658796121COL3A1c.2724+20dup (n.2724+20dup)
c.2823+20dup (n.2823+20dup)
c.2527+1127dup (n.2527+1127dup)
 ClinVar dbSNP gnomAD v4
2g.189004162_189004163dupCA1315403090COL3A1c.2724+19_2724+20dup (n.2724+19_2724+20dup)
c.2823+19_2823+20dup (n.2823+19_2823+20dup)
c.2527+1126_2527+1127dup (n.2527+1126_2527+1127dup)
 dbSNP
2g.189004163delCA2577185818COL3A1c.2724+20del (n.2724+20del)
c.2823+20del (n.2823+20del)
c.2527+1127del (n.2527+1127del)
2g.189004160T>GCA1315403093COL3A1c.2724+17T>G (n.2724+17T>G)
c.2823+17T>G (n.2823+17T>G)
c.2527+1124T>G (n.2527+1124T>G)
 dbSNP
2g.189004160T=CA1315403092COL3A1c.2724+17T= (n.2724+17T=)
c.2823+17T= (n.2823+17T=)
c.2527+1124T= (n.2527+1124T=)
2g.189004161T>CCA2662310069COL3A1c.2724+18T>C (n.2724+18T>C)
c.2823+18T>C (n.2823+18T>C)
c.2527+1125T>C (n.2527+1125T>C)
 gnomAD v4
2g.189004162T>CCA2662310070COL3A1c.2724+19T>C (n.2724+19T>C)
c.2823+19T>C (n.2823+19T>C)
c.2527+1126T>C (n.2527+1126T>C)
 gnomAD v4
2g.189004163T>ACA075616COL3A1c.2724+20T>A (n.2724+20T>A)
c.2823+20T>A (n.2823+20T>A)
c.2527+1127T>A (n.2527+1127T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189004163T=CA1315403094COL3A1c.2724+20T= (n.2724+20T=)
c.2823+20T= (n.2823+20T=)
c.2527+1127T= (n.2527+1127T=)
2g.189004164A=CA1315403095COL3A1c.2724+21A= (n.2724+21A=)
c.2823+21A= (n.2823+21A=)
c.2527+1128A= (n.2527+1128A=)
2g.189004164A>TCA538448886COL3A1c.2724+21A>T (n.2724+21A>T)
c.2823+21A>T (n.2823+21A>T)
c.2527+1128A>T (n.2527+1128A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189004170A=CA1315403096COL3A1c.2724+27A= (n.2724+27A=)
c.2823+27A= (n.2823+27A=)
c.2527+1134A= (n.2527+1134A=)
2g.189004170A>CCA2662310071COL3A1c.2724+27A>C (n.2724+27A>C)
c.2823+27A>C (n.2823+27A>C)
c.2527+1134A>C (n.2527+1134A>C)
 gnomAD v4
2g.189004170A>GCA62557489COL3A1c.2724+27A>G (n.2724+27A>G)
c.2823+27A>G (n.2823+27A>G)
c.2527+1134A>G (n.2527+1134A>G)
 dbSNP
2g.189004171T>CCA1315403098COL3A1c.2724+28T>C (n.2724+28T>C)
c.2823+28T>C (n.2823+28T>C)
c.2527+1135T>C (n.2527+1135T>C)
 dbSNP
2g.189004171T=CA1315403097COL3A1c.2724+28T= (n.2724+28T=)
c.2823+28T= (n.2823+28T=)
c.2527+1135T= (n.2527+1135T=)
2g.189004172dupCA2740351976COL3A1c.2724+29dup (n.2724+29dup)
c.2823+29dup (n.2823+29dup)
c.2527+1136dup (n.2527+1136dup)
2g.189004172T>CCA2662310072COL3A1c.2724+29T>C (n.2724+29T>C)
c.2823+29T>C (n.2823+29T>C)
c.2527+1136T>C (n.2527+1136T>C)
 gnomAD v4
2g.189004174T>ACA538448887COL3A1c.2724+31T>A (n.2724+31T>A)
c.2823+31T>A (n.2823+31T>A)
c.2527+1138T>A (n.2527+1138T>A)
 dbSNP gnomAD v2
2g.189004174T>CCA538448888COL3A1c.2724+31T>C (n.2724+31T>C)
c.2823+31T>C (n.2823+31T>C)
c.2527+1138T>C (n.2527+1138T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189004174T=CA1315403099COL3A1c.2724+31T= (n.2724+31T=)
c.2823+31T= (n.2823+31T=)
c.2527+1138T= (n.2527+1138T=)
2g.189004175A>GCA2662310073COL3A1c.2724+32A>G (n.2724+32A>G)
c.2823+32A>G (n.2823+32A>G)
c.2527+1139A>G (n.2527+1139A>G)
 gnomAD v4
2g.189004175_189004176delinsACCA1315403100COL3A1c.2724+32_2724+33delinsAC (n.2724+32_2724+33delinsAC)
c.2823+32_2823+33delinsAC (n.2823+32_2823+33delinsAC)
c.2527+1139_2527+1140delinsAC (n.2527+1139_2527+1140delinsAC)
2g.189004176delCA1040411562COL3A1c.2724+33del (n.2724+33del)
c.2823+33del (n.2823+33del)
c.2527+1140del (n.2527+1140del)
 dbSNP
2g.189004177T>CCA2753571889COL3A1c.2724+34T>C (n.2724+34T>C)
c.2823+34T>C (n.2823+34T>C)
c.2527+1141T>C (n.2527+1141T>C)
2g.189004177T>GCA62557491COL3A1c.2724+34T>G (n.2724+34T>G)
c.2823+34T>G (n.2823+34T>G)
c.2527+1141T>G (n.2527+1141T>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189004177T=CA1315403101COL3A1c.2724+34T= (n.2724+34T=)
c.2823+34T= (n.2823+34T=)
c.2527+1141T= (n.2527+1141T=)
2g.189004182delCA2740351977COL3A1c.2724+39del (n.2724+39del)
c.2823+39del (n.2823+39del)
c.2527+1146del (n.2527+1146del)
2g.189004180T>ACA62557496COL3A1c.2724+37T>A (n.2724+37T>A)
c.2823+37T>A (n.2823+37T>A)
c.2527+1144T>A (n.2527+1144T>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189004180T=CA1315403102COL3A1c.2724+37T= (n.2724+37T=)
c.2823+37T= (n.2823+37T=)
c.2527+1144T= (n.2527+1144T=)
2g.189004183G>ACA075620COL3A1c.2724+40G>A (n.2724+40G>A)
c.2823+40G>A (n.2823+40G>A)
c.2527+1147G>A (n.2527+1147G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189004183G>CCA2577185819COL3A1c.2724+40G>C (n.2724+40G>C)
c.2823+40G>C (n.2823+40G>C)
c.2527+1147G>C (n.2527+1147G>C)
2g.189004183G=CA1315403103COL3A1c.2724+40G= (n.2724+40G=)
c.2823+40G= (n.2823+40G=)
c.2527+1147G= (n.2527+1147G=)
2g.189004183G>TCA1040411573COL3A1c.2724+40G>T (n.2724+40G>T)
c.2823+40G>T (n.2823+40G>T)
c.2527+1147G>T (n.2527+1147G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189004184A=CA1315403104COL3A1c.2724+41A= (n.2724+41A=)
c.2823+41A= (n.2823+41A=)
c.2527+1148A= (n.2527+1148A=)
2g.189004184A>GCA762204442COL3A1c.2724+41A>G (n.2724+41A>G)
c.2823+41A>G (n.2823+41A>G)
c.2527+1148A>G (n.2527+1148A>G)
 dbSNP
2g.189004191T>CCA2577185820COL3A1c.2724+48T>C (n.2724+48T>C)
c.2823+48T>C (n.2823+48T>C)
c.2527+1155T>C (n.2527+1155T>C)
 gnomAD v4
2g.189004193A=CA1315403105COL3A1c.2724+50A= (n.2724+50A=)
c.2823+50A= (n.2823+50A=)
c.2527+1157A= (n.2527+1157A=)
2g.189004193A>GCA075622COL3A1c.2724+50A>G (n.2724+50A>G)
c.2823+50A>G (n.2823+50A>G)
c.2527+1157A>G (n.2527+1157A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189004195A>CCA2662310074COL3A1c.2724+52A>C (n.2724+52A>C)
c.2823+52A>C (n.2823+52A>C)
c.2527+1159A>C (n.2527+1159A>C)
 gnomAD v4
2g.189004196A>GCA2662310075COL3A1c.2724+53A>G (n.2724+53A>G)
c.2823+53A>G (n.2823+53A>G)
c.2527+1160A>G (n.2527+1160A>G)
 gnomAD v4
2g.189004197A=CA1315403107COL3A1c.2724+54A= (n.2724+54A=)
c.2823+54A= (n.2823+54A=)
c.2527+1161A= (n.2527+1161A=)
2g.189004197A>GCA1040411576COL3A1c.2724+54A>G (n.2724+54A>G)
c.2823+54A>G (n.2823+54A>G)
c.2527+1161A>G (n.2527+1161A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189004197_189004198delinsATCA1315403106COL3A1c.2724+54_2724+55delinsAT (n.2724+54_2724+55delinsAT)
c.2823+54_2823+55delinsAT (n.2823+54_2823+55delinsAT)
c.2527+1161_2527+1162delinsAT (n.2527+1161_2527+1162delinsAT)
2g.189004198delCA538448889COL3A1c.2724+55del (n.2724+55del)
c.2823+55del (n.2823+55del)
c.2527+1162del (n.2527+1162del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189004198T>ACA2577185821COL3A1c.2724+55T>A (n.2724+55T>A)
c.2823+55T>A (n.2823+55T>A)
c.2527+1162T>A (n.2527+1162T>A)
2g.189004198T>CCA2662310076COL3A1c.2724+55T>C (n.2724+55T>C)
c.2823+55T>C (n.2823+55T>C)
c.2527+1162T>C (n.2527+1162T>C)
 gnomAD v4
2g.189004199C>ACA762204453COL3A1c.2724+56C>A (n.2724+56C>A)
c.2823+56C>A (n.2823+56C>A)
c.2527+1163C>A (n.2527+1163C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189004199C=CA1315403108COL3A1c.2724+56C= (n.2724+56C=)
c.2823+56C= (n.2823+56C=)
c.2527+1163C= (n.2527+1163C=)
2g.189004199C>TCA62557508COL3A1c.2724+56C>T (n.2724+56C>T)
c.2823+56C>T (n.2823+56C>T)
c.2527+1163C>T (n.2527+1163C>T)
 dbSNP gnomAD v4
2g.189004200G>ACA762204456COL3A1c.2725-57G>A (n.2725-57G>A)
c.2824-57G>A (n.2824-57G>A)
c.2527+1164G>A (n.2527+1164G>A)
 dbSNP gnomAD v4
2g.189004200G=CA1315403109COL3A1c.2725-57G= (n.2725-57G=)
c.2824-57G= (n.2824-57G=)
c.2527+1164G= (n.2527+1164G=)
2g.189004200G>TCA2662310077COL3A1c.2725-57G>T (n.2725-57G>T)
c.2824-57G>T (n.2824-57G>T)
c.2527+1164G>T (n.2527+1164G>T)
 gnomAD v4
2g.189004201A>GCA2662310078COL3A1c.2725-56A>G (n.2725-56A>G)
c.2824-56A>G (n.2824-56A>G)
c.2527+1165A>G (n.2527+1165A>G)
 gnomAD v4
2g.189004201A>TCA2662310079COL3A1c.2725-56A>T (n.2725-56A>T)
c.2824-56A>T (n.2824-56A>T)
c.2527+1165A>T (n.2527+1165A>T)
 gnomAD v4
2g.189004202T>CCA2662310080COL3A1c.2725-55T>C (n.2725-55T>C)
c.2824-55T>C (n.2824-55T>C)
c.2527+1166T>C (n.2527+1166T>C)
 gnomAD v4
2g.189004202T>GCA2662310081COL3A1c.2725-55T>G (n.2725-55T>G)
c.2824-55T>G (n.2824-55T>G)
c.2527+1166T>G (n.2527+1166T>G)
 gnomAD v4
2g.189004204A>GCA2662310082COL3A1c.2725-53A>G (n.2725-53A>G)
c.2824-53A>G (n.2824-53A>G)
c.2527+1168A>G (n.2527+1168A>G)
 gnomAD v4
2g.189004205G>ACA1315403111COL3A1c.2725-52G>A (n.2725-52G>A)
c.2824-52G>A (n.2824-52G>A)
c.2527+1169G>A (n.2527+1169G>A)
 dbSNP gnomAD v4
2g.189004205G=CA1315403110COL3A1c.2725-52G= (n.2725-52G=)
c.2824-52G= (n.2824-52G=)
c.2527+1169G= (n.2527+1169G=)
2g.189004206A=CA1315403112COL3A1c.2725-51A= (n.2725-51A=)
c.2824-51A= (n.2824-51A=)
c.2527+1170A= (n.2527+1170A=)
2g.189004206A>GCA075651COL3A1c.2725-51A>G (n.2725-51A>G)
c.2824-51A>G (n.2824-51A>G)
c.2527+1170A>G (n.2527+1170A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189004208A=CA1315403114COL3A1c.2725-49A= (n.2725-49A=)
c.2824-49A= (n.2824-49A=)
c.2527+1172A= (n.2527+1172A=)
2g.189004208A>GCA1315403113COL3A1c.2725-49A>G (n.2725-49A>G)
c.2824-49A>G (n.2824-49A>G)
c.2527+1172A>G (n.2527+1172A>G)
 dbSNP gnomAD v4
2g.189004211_189004212dupCA2662310083COL3A1c.2725-46_2725-45dup (n.2725-46_2725-45dup)
c.2824-46_2824-45dup (n.2824-46_2824-45dup)
c.2527+1175_2527+1176dup (n.2527+1175_2527+1176dup)
 gnomAD v4
2g.189004210A=CA1315403115COL3A1c.2725-47A= (n.2725-47A=)
c.2824-47A= (n.2824-47A=)
c.2527+1174A= (n.2527+1174A=)
2g.189004210A>GCA075645COL3A1c.2725-47A>G (n.2725-47A>G)
c.2824-47A>G (n.2824-47A>G)
c.2527+1174A>G (n.2527+1174A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched