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.189004080T>ACA430312022COL3A1c.2661T>A (p.Ser887=)
c.2760T>A (p.Ser920=)
c.2527+1044T>A (n.2527+1044T>A)
2g.189004080T>CCA430312023COL3A1c.2661T>C (p.Ser887=)
c.2760T>C (p.Ser920=)
c.2527+1044T>C (n.2527+1044T>C)
 gnomAD v4
2g.189004080T>GCA430312024COL3A1c.2661T>G (p.Ser887=)
c.2760T>G (p.Ser920=)
c.2527+1044T>G (n.2527+1044T>G)
2g.189004081G>ACA349844087COL3A1c.2662G>A (p.Gly888Arg)
c.2761G>A (p.Gly921Arg)
c.2527+1045G>A (n.2527+1045G>A)
2g.189004081G>CCA349844090COL3A1c.2662G>C (p.Gly888Arg)
c.2761G>C (p.Gly921Arg)
c.2527+1045G>C (n.2527+1045G>C)
2g.189004081G>TCA349844092COL3A1c.2662G>T (p.Gly888Ter)
c.2761G>T (p.Gly921Ter)
c.2527+1045G>T (n.2527+1045G>T)
2g.189004082G>ACA349844094COL3A1c.2663G>A (p.Gly888Glu)
c.2762G>A (p.Gly921Glu)
c.2527+1046G>A (n.2527+1046G>A)
 ClinVar dbSNP
2g.189004082G>CCA349844096COL3A1c.2663G>C (p.Gly888Ala)
c.2762G>C (p.Gly921Ala)
c.2527+1046G>C (n.2527+1046G>C)
2g.189004082G=CA1315403055COL3A1c.2663G= (p.Gly888=)
c.2762G= (p.Gly921=)
c.2527+1046G= (n.2527+1046G=)
2g.189004082G>TCA349844098COL3A1c.2663G>T (p.Gly888Val)
c.2762G>T (p.Gly921Val)
c.2527+1046G>T (n.2527+1046G>T)
2g.189004083A>CCA430312030COL3A1c.2664A>C (p.Gly888=)
c.2763A>C (p.Gly921=)
c.2527+1047A>C (n.2527+1047A>C)
2g.189004083A>GCA430312031COL3A1c.2664A>G (p.Gly888=)
c.2763A>G (p.Gly921=)
c.2527+1047A>G (n.2527+1047A>G)
2g.189004083A>TCA430312032COL3A1c.2664A>T (p.Gly888=)
c.2763A>T (p.Gly921=)
c.2527+1047A>T (n.2527+1047A>T)
2g.189004084C>ACA349844101COL3A1c.2665C>A (p.Pro889Thr)
c.2764C>A (p.Pro922Thr)
c.2527+1048C>A (n.2527+1048C>A)
2g.189004084C>GCA349844102COL3A1c.2665C>G (p.Pro889Ala)
c.2764C>G (p.Pro922Ala)
c.2527+1048C>G (n.2527+1048C>G)
2g.189004084C>TCA349844105COL3A1c.2665C>T (p.Pro889Ser)
c.2764C>T (p.Pro922Ser)
c.2527+1048C>T (n.2527+1048C>T)
2g.189004085C>ACA349844106COL3A1c.2666C>A (p.Pro889Gln)
c.2765C>A (p.Pro922Gln)
c.2527+1049C>A (n.2527+1049C>A)
2g.189004085C>GCA349844108COL3A1c.2666C>G (p.Pro889Arg)
c.2765C>G (p.Pro922Arg)
c.2527+1049C>G (n.2527+1049C>G)
2g.189004085C>TCA349844110COL3A1c.2666C>T (p.Pro889Leu)
c.2765C>T (p.Pro922Leu)
c.2527+1049C>T (n.2527+1049C>T)
 gnomAD v4
2g.189004086A=CA1315403056COL3A1c.2667A= (p.Pro889=)
c.2766A= (p.Pro922=)
c.2527+1050A= (n.2527+1050A=)
2g.189004086A>CCA62557417COL3A1c.2667A>C (p.Pro889=)
c.2766A>C (p.Pro922=)
c.2527+1050A>C (n.2527+1050A>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189004086A>GCA430312042COL3A1c.2667A>G (p.Pro889=)
c.2766A>G (p.Pro922=)
c.2527+1050A>G (n.2527+1050A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189004086A>TCA430312044COL3A1c.2667A>T (p.Pro889=)
c.2766A>T (p.Pro922=)
c.2527+1050A>T (n.2527+1050A>T)
2g.189004087A>CCA349844113COL3A1c.2668A>C (p.Lys890Gln)
c.2767A>C (p.Lys923Gln)
c.2527+1051A>C (n.2527+1051A>C)
2g.189004087A>GCA349844118COL3A1c.2668A>G (p.Lys890Glu)
c.2767A>G (p.Lys923Glu)
c.2527+1051A>G (n.2527+1051A>G)
2g.189004087A>TCA349844115COL3A1c.2668A>T (p.Lys890Ter)
c.2767A>T (p.Lys923Ter)
c.2527+1051A>T (n.2527+1051A>T)
2g.189004088A>CCA349844120COL3A1c.2669A>C (p.Lys890Thr)
c.2768A>C (p.Lys923Thr)
c.2527+1052A>C (n.2527+1052A>C)
 gnomAD v4
2g.189004088A>GCA349844123COL3A1c.2669A>G (p.Lys890Arg)
c.2768A>G (p.Lys923Arg)
c.2527+1052A>G (n.2527+1052A>G)
2g.189004088A>TCA349844122COL3A1c.2669A>T (p.Lys890Ile)
c.2768A>T (p.Lys923Ile)
c.2527+1052A>T (n.2527+1052A>T)
2g.189004089A=CA1315403057COL3A1c.2670A= (p.Lys890=)
c.2769A= (p.Lys923=)
c.2527+1053A= (n.2527+1053A=)
2g.189004089A>CCA349844124COL3A1c.2670A>C (p.Lys890Asn)
c.2769A>C (p.Lys923Asn)
c.2527+1053A>C (n.2527+1053A>C)
2g.189004089A>GCA430312048COL3A1c.2670A>G (p.Lys890=)
c.2769A>G (p.Lys923=)
c.2527+1053A>G (n.2527+1053A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189004089A>TCA349844125COL3A1c.2670A>T (p.Lys890Asn)
c.2769A>T (p.Lys923Asn)
c.2527+1053A>T (n.2527+1053A>T)
2g.189004090G>ACA005653COL3A1c.2671G>A (p.Gly891Ser)
c.2770G>A (p.Gly924Ser)
c.2527+1054G>A (n.2527+1054G>A)
 ClinVar dbSNP
2g.189004090G>CCA349844126COL3A1c.2671G>C (p.Gly891Arg)
c.2770G>C (p.Gly924Arg)
c.2527+1054G>C (n.2527+1054G>C)
2g.189004090G=CA1315403058COL3A1c.2671G= (p.Gly891=)
c.2770G= (p.Gly924=)
c.2527+1054G= (n.2527+1054G=)
2g.189004090G>TCA005659COL3A1c.2671G>T (p.Gly891Cys)
c.2770G>T (p.Gly924Cys)
c.2527+1054G>T (n.2527+1054G>T)
 ClinVar dbSNP COSMIC
2g.189004091G>ACA005666COL3A1c.2672G>A (p.Gly891Asp)
c.2771G>A (p.Gly924Asp)
c.2527+1055G>A (n.2527+1055G>A)
 ClinVar dbSNP
2g.189004091G>CCA349844127COL3A1c.2672G>C (p.Gly891Ala)
c.2771G>C (p.Gly924Ala)
c.2527+1055G>C (n.2527+1055G>C)
2g.189004091G=CA1315403059COL3A1c.2672G= (p.Gly891=)
c.2771G= (p.Gly924=)
c.2527+1055G= (n.2527+1055G=)
2g.189004091G>TCA005673COL3A1c.2672G>T (p.Gly891Val)
c.2771G>T (p.Gly924Val)
c.2527+1055G>T (n.2527+1055G>T)
 ClinVar dbSNP
2g.189004092T>ACA430312052COL3A1c.2673T>A (p.Gly891=)
c.2772T>A (p.Gly924=)
c.2527+1056T>A (n.2527+1056T>A)
2g.189004092T>CCA430312053COL3A1c.2673T>C (p.Gly891=)
c.2772T>C (p.Gly924=)
c.2527+1056T>C (n.2527+1056T>C)
2g.189004092T>GCA430312054COL3A1c.2673T>G (p.Gly891=)
c.2772T>G (p.Gly924=)
c.2527+1056T>G (n.2527+1056T>G)
2g.189004093G>ACA62557441COL3A1c.2674G>A (p.Asp892Asn)
c.2773G>A (p.Asp925Asn)
c.2527+1057G>A (n.2527+1057G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189004093G>CCA349844128COL3A1c.2674G>C (p.Asp892His)
c.2773G>C (p.Asp925His)
c.2527+1057G>C (n.2527+1057G>C)
2g.189004093G=CA1315403060COL3A1c.2674G= (p.Asp892=)
c.2773G= (p.Asp925=)
c.2527+1057G= (n.2527+1057G=)
2g.189004093G>TCA349844129COL3A1c.2674G>T (p.Asp892Tyr)
c.2773G>T (p.Asp925Tyr)
c.2527+1057G>T (n.2527+1057G>T)
2g.189004094A>CCA349844130COL3A1c.2675A>C (p.Asp892Ala)
c.2774A>C (p.Asp925Ala)
c.2527+1058A>C (n.2527+1058A>C)
2g.189004094A>GCA349844131COL3A1c.2675A>G (p.Asp892Gly)
c.2774A>G (p.Asp925Gly)
c.2527+1058A>G (n.2527+1058A>G)
2g.189004094A>TCA349844132COL3A1c.2675A>T (p.Asp892Val)
c.2774A>T (p.Asp925Val)
c.2527+1058A>T (n.2527+1058A>T)
2g.189004095T>ACA349844133COL3A1c.2676T>A (p.Asp892Glu)
c.2775T>A (p.Asp925Glu)
c.2527+1059T>A (n.2527+1059T>A)
2g.189004095T>CCA430312056COL3A1c.2676T>C (p.Asp892=)
c.2775T>C (p.Asp925=)
c.2527+1059T>C (n.2527+1059T>C)
2g.189004095T>GCA349844134COL3A1c.2676T>G (p.Asp892Glu)
c.2775T>G (p.Asp925Glu)
c.2527+1059T>G (n.2527+1059T>G)
2g.189004096G>ACA349844135COL3A1c.2677G>A (p.Ala893Thr)
c.2776G>A (p.Ala926Thr)
c.2527+1060G>A (n.2527+1060G>A)
2g.189004096G>CCA349844136COL3A1c.2677G>C (p.Ala893Pro)
c.2776G>C (p.Ala926Pro)
c.2527+1060G>C (n.2527+1060G>C)
 gnomAD v4
2g.189004096G>TCA349844137COL3A1c.2677G>T (p.Ala893Ser)
c.2776G>T (p.Ala926Ser)
c.2527+1060G>T (n.2527+1060G>T)
2g.189004097C>ACA349844138COL3A1c.2678C>A (p.Ala893Asp)
c.2777C>A (p.Ala926Asp)
c.2527+1061C>A (n.2527+1061C>A)
2g.189004097C>GCA349844139COL3A1c.2678C>G (p.Ala893Gly)
c.2777C>G (p.Ala926Gly)
c.2527+1061C>G (n.2527+1061C>G)
2g.189004097C>TCA349844140COL3A1c.2678C>T (p.Ala893Val)
c.2777C>T (p.Ala926Val)
c.2527+1061C>T (n.2527+1061C>T)
2g.189004098T>ACA430312057COL3A1c.2679T>A (p.Ala893=)
c.2778T>A (p.Ala926=)
c.2527+1062T>A (n.2527+1062T>A)
2g.189004098T>CCA430312058COL3A1c.2679T>C (p.Ala893=)
c.2778T>C (p.Ala926=)
c.2527+1062T>C (n.2527+1062T>C)
2g.189004098T>GCA430312059COL3A1c.2679T>G (p.Ala893=)
c.2778T>G (p.Ala926=)
c.2527+1062T>G (n.2527+1062T>G)
2g.189004099G>ACA349844141COL3A1c.2680G>A (p.Gly894Ser)
c.2779G>A (p.Gly927Ser)
c.2527+1063G>A (n.2527+1063G>A)
2g.189004099G>CCA349844142COL3A1c.2680G>C (p.Gly894Arg)
c.2779G>C (p.Gly927Arg)
c.2527+1063G>C (n.2527+1063G>C)
2g.189004099G>TCA349844143COL3A1c.2680G>T (p.Gly894Cys)
c.2779G>T (p.Gly927Cys)
c.2527+1063G>T (n.2527+1063G>T)
2g.189004100G>ACA005680COL3A1c.2681G>A (p.Gly894Asp)
c.2780G>A (p.Gly927Asp)
c.2527+1064G>A (n.2527+1064G>A)
 ClinVar dbSNP
2g.189004100G>CCA349844144COL3A1c.2681G>C (p.Gly894Ala)
c.2780G>C (p.Gly927Ala)
c.2527+1064G>C (n.2527+1064G>C)
2g.189004100G=CA1315403061COL3A1c.2681G= (p.Gly894=)
c.2780G= (p.Gly927=)
c.2527+1064G= (n.2527+1064G=)
2g.189004100G>TCA349844145COL3A1c.2681G>T (p.Gly894Val)
c.2780G>T (p.Gly927Val)
c.2527+1064G>T (n.2527+1064G>T)
2g.189004101C>ACA430312061COL3A1c.2682C>A (p.Gly894=)
c.2781C>A (p.Gly927=)
c.2527+1065C>A (n.2527+1065C>A)
2g.189004101C>GCA430312065COL3A1c.2682C>G (p.Gly894=)
c.2781C>G (p.Gly927=)
c.2527+1065C>G (n.2527+1065C>G)
2g.189004101C>TCA430312064COL3A1c.2682C>T (p.Gly894=)
c.2781C>T (p.Gly927=)
c.2527+1065C>T (n.2527+1065C>T)
2g.189004102C>ACA349844147COL3A1c.2683C>A (p.Gln895Lys)
c.2782C>A (p.Gln928Lys)
c.2527+1066C>A (n.2527+1066C>A)
2g.189004102C>GCA349844151COL3A1c.2683C>G (p.Gln895Glu)
c.2782C>G (p.Gln928Glu)
c.2527+1066C>G (n.2527+1066C>G)
2g.189004102C>TCA349844149COL3A1c.2683C>T (p.Gln895Ter)
c.2782C>T (p.Gln928Ter)
c.2527+1066C>T (n.2527+1066C>T)
2g.189004103A>CCA349844152COL3A1c.2684A>C (p.Gln895Pro)
c.2783A>C (p.Gln928Pro)
c.2527+1067A>C (n.2527+1067A>C)
2g.189004103A>GCA349844154COL3A1c.2684A>G (p.Gln895Arg)
c.2783A>G (p.Gln928Arg)
c.2527+1067A>G (n.2527+1067A>G)
2g.189004103A>TCA349844156COL3A1c.2684A>T (p.Gln895Leu)
c.2783A>T (p.Gln928Leu)
c.2527+1067A>T (n.2527+1067A>T)
2g.189004104A>CCA349844160COL3A1c.2685A>C (p.Gln895His)
c.2784A>C (p.Gln928His)
c.2527+1068A>C (n.2527+1068A>C)
 ClinVar dbSNP gnomAD v4
2g.189004104A>GCA430312069COL3A1c.2685A>G (p.Gln895=)
c.2784A>G (p.Gln928=)
c.2527+1068A>G (n.2527+1068A>G)
2g.189004104A>TCA349844161COL3A1c.2685A>T (p.Gln895His)
c.2784A>T (p.Gln928His)
c.2527+1068A>T (n.2527+1068A>T)
2g.189004105C>ACA349844164COL3A1c.2686C>A (p.Pro896Thr)
c.2785C>A (p.Pro929Thr)
c.2527+1069C>A (n.2527+1069C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189004105C=CA1315403062COL3A1c.2686C= (p.Pro896=)
c.2785C= (p.Pro929=)
c.2527+1069C= (n.2527+1069C=)
2g.189004105C>GCA349844166COL3A1c.2686C>G (p.Pro896Ala)
c.2785C>G (p.Pro929Ala)
c.2527+1069C>G (n.2527+1069C>G)
2g.189004105C>TCA349844169COL3A1c.2686C>T (p.Pro896Ser)
c.2785C>T (p.Pro929Ser)
c.2527+1069C>T (n.2527+1069C>T)
2g.189004106C>ACA349844172COL3A1c.2687C>A (p.Pro896Gln)
c.2786C>A (p.Pro929Gln)
c.2527+1070C>A (n.2527+1070C>A)
2g.189004106C>GCA349844174COL3A1c.2687C>G (p.Pro896Arg)
c.2786C>G (p.Pro929Arg)
c.2527+1070C>G (n.2527+1070C>G)
2g.189004106C>TCA349844175COL3A1c.2687C>T (p.Pro896Leu)
c.2786C>T (p.Pro929Leu)
c.2527+1070C>T (n.2527+1070C>T)
2g.189004107A>CCA430312071COL3A1c.2688A>C (p.Pro896=)
c.2787A>C (p.Pro929=)
c.2527+1071A>C (n.2527+1071A>C)
2g.189004107A>GCA430312073COL3A1c.2688A>G (p.Pro896=)
c.2787A>G (p.Pro929=)
c.2527+1071A>G (n.2527+1071A>G)
2g.189004107A>TCA430312072COL3A1c.2688A>T (p.Pro896=)
c.2787A>T (p.Pro929=)
c.2527+1071A>T (n.2527+1071A>T)
2g.189004108G>ACA349844181COL3A1c.2689G>A (p.Gly897Arg)
c.2788G>A (p.Gly930Arg)
c.2527+1072G>A (n.2527+1072G>A)
 COSMIC
2g.189004108G>CCA349844177COL3A1c.2689G>C (p.Gly897Arg)
c.2788G>C (p.Gly930Arg)
c.2527+1072G>C (n.2527+1072G>C)
2g.189004108G>TCA349844179COL3A1c.2689G>T (p.Gly897Ter)
c.2788G>T (p.Gly930Ter)
c.2527+1072G>T (n.2527+1072G>T)
2g.189004109G>ACA349844182COL3A1c.2690G>A (p.Gly897Glu)
c.2789G>A (p.Gly930Glu)
c.2527+1073G>A (n.2527+1073G>A)
 COSMIC
2g.189004109G>CCA349844183COL3A1c.2690G>C (p.Gly897Ala)
c.2789G>C (p.Gly930Ala)
c.2527+1073G>C (n.2527+1073G>C)
2g.189004109G>TCA349844185COL3A1c.2690G>T (p.Gly897Val)
c.2789G>T (p.Gly930Val)
c.2527+1073G>T (n.2527+1073G>T)
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)
 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)
 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.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=)

Number of alleles fetched