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.189004034dupCA430311919COL3A1c.2615dup (p.Gly873ArgfsTer5)
c.2714dup (p.Gly906ArgfsTer5)
c.2527+998dup (n.2527+998dup)
COSMIC
2g.189004034C>ACA349843888COL3A1c.2615C>A (p.Pro872Gln)
c.2714C>A (p.Pro905Gln)
c.2527+998C>A (n.2527+998C>A)
2g.189004034C=CA1315403032COL3A1c.2615C= (p.Pro872=)
c.2714C= (p.Pro905=)
c.2527+998C= (n.2527+998C=)
2g.189004034C>GCA349843890COL3A1c.2615C>G (p.Pro872Arg)
c.2714C>G (p.Pro905Arg)
c.2527+998C>G (n.2527+998C>G)
2g.189004034C>TCA10612164COL3A1c.2615C>T (p.Pro872Leu)
c.2714C>T (p.Pro905Leu)
c.2527+998C>T (n.2527+998C>T)
ClinVar dbSNP
2g.189004035A>CCA430311924COL3A1c.2616A>C (p.Pro872=)
c.2715A>C (p.Pro905=)
c.2527+999A>C (n.2527+999A>C)
2g.189004035A>GCA430311925COL3A1c.2616A>G (p.Pro872=)
c.2715A>G (p.Pro905=)
c.2527+999A>G (n.2527+999A>G)
2g.189004035A>TCA430311926COL3A1c.2616A>T (p.Pro872=)
c.2715A>T (p.Pro905=)
c.2527+999A>T (n.2527+999A>T)
2g.189004036G>ACA349843898COL3A1c.2617G>A (p.Gly873Ser)
c.2716G>A (p.Gly906Ser)
c.2527+1000G>A (n.2527+1000G>A)
ClinVar dbSNP
2g.189004036G>CCA349843894COL3A1c.2617G>C (p.Gly873Arg)
c.2716G>C (p.Gly906Arg)
c.2527+1000G>C (n.2527+1000G>C)
ClinVar
2g.189004036G=CA1315403033COL3A1c.2617G= (p.Gly873=)
c.2716G= (p.Gly906=)
c.2527+1000G= (n.2527+1000G=)
2g.189004036G>TCA349843896COL3A1c.2617G>T (p.Gly873Cys)
c.2716G>T (p.Gly906Cys)
c.2527+1000G>T (n.2527+1000G>T)
2g.189004037G>ACA349843900COL3A1c.2618G>A (p.Gly873Asp)
c.2717G>A (p.Gly906Asp)
c.2527+1001G>A (n.2527+1001G>A)
ClinVar
2g.189004037G>CCA349843903COL3A1c.2618G>C (p.Gly873Ala)
c.2717G>C (p.Gly906Ala)
c.2527+1001G>C (n.2527+1001G>C)
2g.189004037G>TCA349843905COL3A1c.2618G>T (p.Gly873Val)
c.2717G>T (p.Gly906Val)
c.2527+1001G>T (n.2527+1001G>T)
COSMIC
2g.189004038T>ACA430311928COL3A1c.2619T>A (p.Gly873=)
c.2718T>A (p.Gly906=)
c.2527+1002T>A (n.2527+1002T>A)
2g.189004038T>CCA075553COL3A1c.2619T>C (p.Gly873=)
c.2718T>C (p.Gly906=)
c.2527+1002T>C (n.2527+1002T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189004038T>GCA430311929COL3A1c.2619T>G (p.Gly873=)
c.2718T>G (p.Gly906=)
c.2527+1002T>G (n.2527+1002T>G)
2g.189004038T=CA1315403034COL3A1c.2619T= (p.Gly873=)
c.2718T= (p.Gly906=)
c.2527+1002T= (n.2527+1002T=)
2g.189004039C>ACA349843909COL3A1c.2620C>A (p.Pro874Thr)
c.2719C>A (p.Pro907Thr)
c.2527+1003C>A (n.2527+1003C>A)
2g.189004039C>GCA349843910COL3A1c.2620C>G (p.Pro874Ala)
c.2719C>G (p.Pro907Ala)
c.2527+1003C>G (n.2527+1003C>G)
2g.189004039C>TCA349843912COL3A1c.2620C>T (p.Pro874Ser)
c.2719C>T (p.Pro907Ser)
c.2527+1003C>T (n.2527+1003C>T)
COSMIC
2g.189004040C>ACA349843915COL3A1c.2621C>A (p.Pro874His)
c.2720C>A (p.Pro907His)
c.2527+1004C>A (n.2527+1004C>A)
2g.189004040C=CA1315403035COL3A1c.2621C= (p.Pro874=)
c.2720C= (p.Pro907=)
c.2527+1004C= (n.2527+1004C=)
2g.189004040C>GCA349843917COL3A1c.2621C>G (p.Pro874Arg)
c.2720C>G (p.Pro907Arg)
c.2527+1004C>G (n.2527+1004C>G)
2g.189004040C>TCA349843919COL3A1c.2621C>T (p.Pro874Leu)
c.2720C>T (p.Pro907Leu)
c.2527+1004C>T (n.2527+1004C>T)
ClinVar dbSNP
2g.189004041T>ACA430311936COL3A1c.2622T>A (p.Pro874=)
c.2721T>A (p.Pro907=)
c.2527+1005T>A (n.2527+1005T>A)
2g.189004041T>CCA430311937COL3A1c.2622T>C (p.Pro874=)
c.2721T>C (p.Pro907=)
c.2527+1005T>C (n.2527+1005T>C)
2g.189004041T>GCA430311938COL3A1c.2622T>G (p.Pro874=)
c.2721T>G (p.Pro907=)
c.2527+1005T>G (n.2527+1005T>G)
2g.189004042G>ACA62557376COL3A1c.2623G>A (p.Ala875Thr)
c.2722G>A (p.Ala908Thr)
c.2527+1006G>A (n.2527+1006G>A)
dbSNP gnomAD v4
2g.189004042G>CCA349843923COL3A1c.2623G>C (p.Ala875Pro)
c.2722G>C (p.Ala908Pro)
c.2527+1006G>C (n.2527+1006G>C)
2g.189004042G=CA1315403036COL3A1c.2623G= (p.Ala875=)
c.2722G= (p.Ala908=)
c.2527+1006G= (n.2527+1006G=)
2g.189004042G>TCA349843925COL3A1c.2623G>T (p.Ala875Ser)
c.2722G>T (p.Ala908Ser)
c.2527+1006G>T (n.2527+1006G>T)
2g.189004043C>ACA349843928COL3A1c.2624C>A (p.Ala875Glu)
c.2723C>A (p.Ala908Glu)
c.2527+1007C>A (n.2527+1007C>A)
gnomAD v4
2g.189004043C=CA1315403037COL3A1c.2624C= (p.Ala875=)
c.2723C= (p.Ala908=)
c.2527+1007C= (n.2527+1007C=)
2g.189004043C>GCA075557COL3A1c.2624C>G (p.Ala875Gly)
c.2723C>G (p.Ala908Gly)
c.2527+1007C>G (n.2527+1007C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189004043C>TCA075559COL3A1c.2624C>T (p.Ala875Val)
c.2723C>T (p.Ala908Val)
c.2527+1007C>T (n.2527+1007C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189004044G>ACA075564COL3A1c.2625G>A (p.Ala875=)
c.2724G>A (p.Ala908=)
c.2527+1008G>A (n.2527+1008G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189004044G>CCA430311943COL3A1c.2625G>C (p.Ala875=)
c.2724G>C (p.Ala908=)
c.2527+1008G>C (n.2527+1008G>C)
2g.189004044G=CA1315403038COL3A1c.2625G= (p.Ala875=)
c.2724G= (p.Ala908=)
c.2527+1008G= (n.2527+1008G=)
2g.189004044G>TCA430311944COL3A1c.2625G>T (p.Ala875=)
c.2724G>T (p.Ala908=)
c.2527+1008G>T (n.2527+1008G>T)
gnomAD v4
2g.189004046delCA430311947COL3A1c.2627del (p.Gly876ValfsTer?)
c.2726del (p.Gly909ValfsTer?)
c.2527+1010del (n.2527+1010del)
COSMIC
2g.189004045G>ACA349843935COL3A1c.2626G>A (p.Gly876Ser)
c.2725G>A (p.Gly909Ser)
c.2527+1009G>A (n.2527+1009G>A)
2g.189004045G>CCA349843937COL3A1c.2626G>C (p.Gly876Arg)
c.2725G>C (p.Gly909Arg)
c.2527+1009G>C (n.2527+1009G>C)
2g.189004045G>TCA349843939COL3A1c.2626G>T (p.Gly876Cys)
c.2725G>T (p.Gly909Cys)
c.2527+1009G>T (n.2527+1009G>T)
2g.189004046G>ACA349843941COL3A1c.2627G>A (p.Gly876Asp)
c.2726G>A (p.Gly909Asp)
c.2527+1010G>A (n.2527+1010G>A)
ClinVar dbSNP COSMIC
2g.189004046G>CCA349843943COL3A1c.2627G>C (p.Gly876Ala)
c.2726G>C (p.Gly909Ala)
c.2527+1010G>C (n.2527+1010G>C)
2g.189004046G=CA1315403039COL3A1c.2627G= (p.Gly876=)
c.2726G= (p.Gly909=)
c.2527+1010G= (n.2527+1010G=)
2g.189004046G>TCA005632COL3A1c.2627G>T (p.Gly876Val)
c.2726G>T (p.Gly909Val)
c.2527+1010G>T (n.2527+1010G>T)
ClinVar dbSNP
2g.189004047T>ACA430311951COL3A1c.2628T>A (p.Gly876=)
c.2727T>A (p.Gly909=)
c.2527+1011T>A (n.2527+1011T>A)
2g.189004047T>CCA430311950COL3A1c.2628T>C (p.Gly876=)
c.2727T>C (p.Gly909=)
c.2527+1011T>C (n.2527+1011T>C)
2g.189004047T>GCA430311949COL3A1c.2628T>G (p.Gly876=)
c.2727T>G (p.Gly909=)
c.2527+1011T>G (n.2527+1011T>G)
2g.189004048A>CCA349843947COL3A1c.2629A>C (p.Asn877His)
c.2728A>C (p.Asn910His)
c.2527+1012A>C (n.2527+1012A>C)
2g.189004048A>GCA349843948COL3A1c.2629A>G (p.Asn877Asp)
c.2728A>G (p.Asn910Asp)
c.2527+1012A>G (n.2527+1012A>G)
2g.189004048A>TCA349843949COL3A1c.2629A>T (p.Asn877Tyr)
c.2728A>T (p.Asn910Tyr)
c.2527+1012A>T (n.2527+1012A>T)
2g.189004049A>CCA349843952COL3A1c.2630A>C (p.Asn877Thr)
c.2729A>C (p.Asn910Thr)
c.2527+1013A>C (n.2527+1013A>C)
2g.189004049A>GCA349843953COL3A1c.2630A>G (p.Asn877Ser)
c.2729A>G (p.Asn910Ser)
c.2527+1013A>G (n.2527+1013A>G)
gnomAD v4
2g.189004049A>TCA349843955COL3A1c.2630A>T (p.Asn877Ile)
c.2729A>T (p.Asn910Ile)
c.2527+1013A>T (n.2527+1013A>T)
2g.189004050C>ACA349843960COL3A1c.2631C>A (p.Asn877Lys)
c.2730C>A (p.Asn910Lys)
c.2527+1014C>A (n.2527+1014C>A)
2g.189004050C>GCA349843957COL3A1c.2631C>G (p.Asn877Lys)
c.2730C>G (p.Asn910Lys)
c.2527+1014C>G (n.2527+1014C>G)
2g.189004050C>TCA430311958COL3A1c.2631C>T (p.Asn877=)
c.2730C>T (p.Asn910=)
c.2527+1014C>T (n.2527+1014C>T)
2g.189004051A=CA1315403040COL3A1c.2632A= (p.Thr878=)
c.2731A= (p.Thr911=)
c.2527+1015A= (n.2527+1015A=)
2g.189004051A>CCA349843962COL3A1c.2632A>C (p.Thr878Pro)
c.2731A>C (p.Thr911Pro)
c.2527+1015A>C (n.2527+1015A>C)
2g.189004051A>GCA349843963COL3A1c.2632A>G (p.Thr878Ala)
c.2731A>G (p.Thr911Ala)
c.2527+1015A>G (n.2527+1015A>G)
gnomAD v4
2g.189004051A>TCA349843965COL3A1c.2632A>T (p.Thr878Ser)
c.2731A>T (p.Thr911Ser)
c.2527+1015A>T (n.2527+1015A>T)
dbSNP
2g.189004052C>ACA349843967COL3A1c.2633C>A (p.Thr878Asn)
c.2732C>A (p.Thr911Asn)
c.2527+1016C>A (n.2527+1016C>A)
2g.189004052C=CA1315403041COL3A1c.2633C= (p.Thr878=)
c.2732C= (p.Thr911=)
c.2527+1016C= (n.2527+1016C=)
2g.189004052C>GCA075568COL3A1c.2633C>G (p.Thr878Ser)
c.2732C>G (p.Thr911Ser)
c.2527+1016C>G (n.2527+1016C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.189004052C>TCA349843970COL3A1c.2633C>T (p.Thr878Ile)
c.2732C>T (p.Thr911Ile)
c.2527+1016C>T (n.2527+1016C>T)
dbSNP gnomAD v2 gnomAD v4
2g.189004053T>ACA430311960COL3A1c.2634T>A (p.Thr878=)
c.2733T>A (p.Thr911=)
c.2527+1017T>A (n.2527+1017T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189004053T>CCA075571COL3A1c.2634T>C (p.Thr878=)
c.2733T>C (p.Thr911=)
c.2527+1017T>C (n.2527+1017T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189004053T>GCA430311963COL3A1c.2634T>G (p.Thr878=)
c.2733T>G (p.Thr911=)
c.2527+1017T>G (n.2527+1017T>G)
2g.189004053T=CA1315403042COL3A1c.2634T= (p.Thr878=)
c.2733T= (p.Thr911=)
c.2527+1017T= (n.2527+1017T=)
2g.189004054G>ACA349843974COL3A1c.2635G>A (p.Gly879Ser)
c.2734G>A (p.Gly912Ser)
c.2527+1018G>A (n.2527+1018G>A)
ClinVar dbSNP
2g.189004054G>CCA349843976COL3A1c.2635G>C (p.Gly879Arg)
c.2734G>C (p.Gly912Arg)
c.2527+1018G>C (n.2527+1018G>C)
2g.189004054G>TCA349843978COL3A1c.2635G>T (p.Gly879Cys)
c.2734G>T (p.Gly912Cys)
c.2527+1018G>T (n.2527+1018G>T)
2g.189004055G>ACA005640COL3A1c.2636G>A (p.Gly879Asp)
c.2735G>A (p.Gly912Asp)
c.2527+1019G>A (n.2527+1019G>A)
ClinVar dbSNP gnomAD v4
2g.189004055G>CCA349843982COL3A1c.2636G>C (p.Gly879Ala)
c.2735G>C (p.Gly912Ala)
c.2527+1019G>C (n.2527+1019G>C)
2g.189004055G=CA1315403043COL3A1c.2636G= (p.Gly879=)
c.2735G= (p.Gly912=)
c.2527+1019G= (n.2527+1019G=)
2g.189004055G>TCA349843984COL3A1c.2636G>T (p.Gly879Val)
c.2735G>T (p.Gly912Val)
c.2527+1019G>T (n.2527+1019G>T)
2g.189004056T>ACA430311968COL3A1c.2637T>A (p.Gly879=)
c.2736T>A (p.Gly912=)
c.2527+1020T>A (n.2527+1020T>A)
2g.189004056T>CCA430311969COL3A1c.2637T>C (p.Gly879=)
c.2736T>C (p.Gly912=)
c.2527+1020T>C (n.2527+1020T>C)
dbSNP gnomAD v2 gnomAD v4
2g.189004056T>GCA430311970COL3A1c.2637T>G (p.Gly879=)
c.2736T>G (p.Gly912=)
c.2527+1020T>G (n.2527+1020T>G)
gnomAD v4
2g.189004056T=CA1315403044COL3A1c.2637T= (p.Gly879=)
c.2736T= (p.Gly912=)
c.2527+1020T= (n.2527+1020T=)
2g.189004057G>ACA349843991COL3A1c.2638G>A (p.Ala880Thr)
c.2737G>A (p.Ala913Thr)
c.2527+1021G>A (n.2527+1021G>A)
2g.189004057G>CCA349843988COL3A1c.2638G>C (p.Ala880Pro)
c.2737G>C (p.Ala913Pro)
c.2527+1021G>C (n.2527+1021G>C)
ClinVar
2g.189004057G>TCA349843990COL3A1c.2638G>T (p.Ala880Ser)
c.2737G>T (p.Ala913Ser)
c.2527+1021G>T (n.2527+1021G>T)
2g.189004058C>ACA349843995COL3A1c.2639C>A (p.Ala880Asp)
c.2738C>A (p.Ala913Asp)
c.2527+1022C>A (n.2527+1022C>A)
COSMIC
2g.189004058C>GCA349843999COL3A1c.2639C>G (p.Ala880Gly)
c.2738C>G (p.Ala913Gly)
c.2527+1022C>G (n.2527+1022C>G)
2g.189004058C>TCA349843996COL3A1c.2639C>T (p.Ala880Val)
c.2738C>T (p.Ala913Val)
c.2527+1022C>T (n.2527+1022C>T)
2g.189004059T>ACA430311974COL3A1c.2640T>A (p.Ala880=)
c.2739T>A (p.Ala913=)
c.2527+1023T>A (n.2527+1023T>A)
2g.189004059T>CCA430311975COL3A1c.2640T>C (p.Ala880=)
c.2739T>C (p.Ala913=)
c.2527+1023T>C (n.2527+1023T>C)
dbSNP gnomAD v2 gnomAD v4
2g.189004059T>GCA430311976COL3A1c.2640T>G (p.Ala880=)
c.2739T>G (p.Ala913=)
c.2527+1023T>G (n.2527+1023T>G)
2g.189004059T=CA1315403045COL3A1c.2640T= (p.Ala880=)
c.2739T= (p.Ala913=)
c.2527+1023T= (n.2527+1023T=)
2g.189004060C>ACA349844000COL3A1c.2641C>A (p.Pro881Thr)
c.2740C>A (p.Pro914Thr)
c.2527+1024C>A (n.2527+1024C>A)
COSMIC
2g.189004060C>GCA349844003COL3A1c.2641C>G (p.Pro881Ala)
c.2740C>G (p.Pro914Ala)
c.2527+1024C>G (n.2527+1024C>G)
2g.189004060C>TCA349844005COL3A1c.2641C>T (p.Pro881Ser)
c.2740C>T (p.Pro914Ser)
c.2527+1024C>T (n.2527+1024C>T)
gnomAD v4 COSMIC
2g.189004061C>ACA349844006COL3A1c.2642C>A (p.Pro881His)
c.2741C>A (p.Pro914His)
c.2527+1025C>A (n.2527+1025C>A)
2g.189004061C>GCA349844008COL3A1c.2642C>G (p.Pro881Arg)
c.2741C>G (p.Pro914Arg)
c.2527+1025C>G (n.2527+1025C>G)
2g.189004061C>TCA349844011COL3A1c.2642C>T (p.Pro881Leu)
c.2741C>T (p.Pro914Leu)
c.2527+1025C>T (n.2527+1025C>T)
2g.189004062T>ACA430311980COL3A1c.2643T>A (p.Pro881=)
c.2742T>A (p.Pro914=)
c.2527+1026T>A (n.2527+1026T>A)
2g.189004062T>CCA430311981COL3A1c.2643T>C (p.Pro881=)
c.2742T>C (p.Pro914=)
c.2527+1026T>C (n.2527+1026T>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189004062T>GCA430311982COL3A1c.2643T>G (p.Pro881=)
c.2742T>G (p.Pro914=)
c.2527+1026T>G (n.2527+1026T>G)
2g.189004062T=CA1315403046COL3A1c.2643T= (p.Pro881=)
c.2742T= (p.Pro914=)
c.2527+1026T= (n.2527+1026T=)
2g.189004063G>ACA349844013COL3A1c.2644G>A (p.Gly882Ser)
c.2743G>A (p.Gly915Ser)
c.2527+1027G>A (n.2527+1027G>A)
ClinVar dbSNP
2g.189004063G>CCA349844015COL3A1c.2644G>C (p.Gly882Arg)
c.2743G>C (p.Gly915Arg)
c.2527+1027G>C (n.2527+1027G>C)
2g.189004063G>TCA349844017COL3A1c.2644G>T (p.Gly882Cys)
c.2743G>T (p.Gly915Cys)
c.2527+1027G>T (n.2527+1027G>T)
2g.189004064G>ACA349844020COL3A1c.2645G>A (p.Gly882Asp)
c.2744G>A (p.Gly915Asp)
c.2527+1028G>A (n.2527+1028G>A)
2g.189004064G>CCA349844022COL3A1c.2645G>C (p.Gly882Ala)
c.2744G>C (p.Gly915Ala)
c.2527+1028G>C (n.2527+1028G>C)
2g.189004064G>TCA349844023COL3A1c.2645G>T (p.Gly882Val)
c.2744G>T (p.Gly915Val)
c.2527+1028G>T (n.2527+1028G>T)
2g.189004065C>ACA075574COL3A1c.2646C>A (p.Gly882=)
c.2745C>A (p.Gly915=)
c.2527+1029C>A (n.2527+1029C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189004065C=CA1315403047COL3A1c.2646C= (p.Gly882=)
c.2745C= (p.Gly915=)
c.2527+1029C= (n.2527+1029C=)
2g.189004065C>GCA430311985COL3A1c.2646C>G (p.Gly882=)
c.2745C>G (p.Gly915=)
c.2527+1029C>G (n.2527+1029C>G)
2g.189004065C>TCA075577COL3A1c.2646C>T (p.Gly882=)
c.2745C>T (p.Gly915=)
c.2527+1029C>T (n.2527+1029C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189004066A=CA1315403048COL3A1c.2647A= (p.Ser883=)
c.2746A= (p.Ser916=)
c.2527+1030A= (n.2527+1030A=)
2g.189004066A>CCA349844025COL3A1c.2647A>C (p.Ser883Arg)
c.2746A>C (p.Ser916Arg)
c.2527+1030A>C (n.2527+1030A>C)
2g.189004066A>GCA349844027COL3A1c.2647A>G (p.Ser883Gly)
c.2746A>G (p.Ser916Gly)
c.2527+1030A>G (n.2527+1030A>G)
dbSNP
2g.189004066A>TCA349844028COL3A1c.2647A>T (p.Ser883Cys)
c.2746A>T (p.Ser916Cys)
c.2527+1030A>T (n.2527+1030A>T)
2g.189004067G>ACA349844031COL3A1c.2648G>A (p.Ser883Asn)
c.2747G>A (p.Ser916Asn)
c.2527+1031G>A (n.2527+1031G>A)
gnomAD v4
2g.189004067G>CCA349844032COL3A1c.2648G>C (p.Ser883Thr)
c.2747G>C (p.Ser916Thr)
c.2527+1031G>C (n.2527+1031G>C)
dbSNP gnomAD v3 gnomAD v4
2g.189004067G=CA1315403049COL3A1c.2648G= (p.Ser883=)
c.2747G= (p.Ser916=)
c.2527+1031G= (n.2527+1031G=)
2g.189004067G>TCA349844034COL3A1c.2648G>T (p.Ser883Ile)
c.2747G>T (p.Ser916Ile)
c.2527+1031G>T (n.2527+1031G>T)
2g.189004068C>ACA349844038COL3A1c.2649C>A (p.Ser883Arg)
c.2748C>A (p.Ser916Arg)
c.2527+1032C>A (n.2527+1032C>A)
2g.189004068C>GCA349844036COL3A1c.2649C>G (p.Ser883Arg)
c.2748C>G (p.Ser916Arg)
c.2527+1032C>G (n.2527+1032C>G)
2g.189004068C>TCA430311993COL3A1c.2649C>T (p.Ser883=)
c.2748C>T (p.Ser916=)
c.2527+1032C>T (n.2527+1032C>T)
2g.189004069C>ACA62557413COL3A1c.2650C>A (p.Pro884Thr)
c.2749C>A (p.Pro917Thr)
c.2527+1033C>A (n.2527+1033C>A)
dbSNP
2g.189004069C=CA1315403050COL3A1c.2650C= (p.Pro884=)
c.2749C= (p.Pro917=)
c.2527+1033C= (n.2527+1033C=)
2g.189004069C>GCA349844040COL3A1c.2650C>G (p.Pro884Ala)
c.2749C>G (p.Pro917Ala)
c.2527+1033C>G (n.2527+1033C>G)
2g.189004069C>TCA349844042COL3A1c.2650C>T (p.Pro884Ser)
c.2749C>T (p.Pro917Ser)
c.2527+1033C>T (n.2527+1033C>T)
ClinVar dbSNP gnomAD v4
2g.189004070C>ACA349844045COL3A1c.2651C>A (p.Pro884His)
c.2750C>A (p.Pro917His)
c.2527+1034C>A (n.2527+1034C>A)
2g.189004070C>GCA349844047COL3A1c.2651C>G (p.Pro884Arg)
c.2750C>G (p.Pro917Arg)
c.2527+1034C>G (n.2527+1034C>G)
2g.189004070C>TCA349844048COL3A1c.2651C>T (p.Pro884Leu)
c.2750C>T (p.Pro917Leu)
c.2527+1034C>T (n.2527+1034C>T)
2g.189004071T>ACA430312001COL3A1c.2652T>A (p.Pro884=)
c.2751T>A (p.Pro917=)
c.2527+1035T>A (n.2527+1035T>A)
2g.189004071T>CCA430312000COL3A1c.2652T>C (p.Pro884=)
c.2751T>C (p.Pro917=)
c.2527+1035T>C (n.2527+1035T>C)
2g.189004071T>GCA430311998COL3A1c.2652T>G (p.Pro884=)
c.2751T>G (p.Pro917=)
c.2527+1035T>G (n.2527+1035T>G)
2g.189004072G>ACA349844050COL3A1c.2653G>A (p.Gly885Arg)
c.2752G>A (p.Gly918Arg)
c.2527+1036G>A (n.2527+1036G>A)
ClinVar dbSNP
2g.189004072G>CCA349844054COL3A1c.2653G>C (p.Gly885Arg)
c.2752G>C (p.Gly918Arg)
c.2527+1036G>C (n.2527+1036G>C)
2g.189004072G=CA1315403051COL3A1c.2653G= (p.Gly885=)
c.2752G= (p.Gly918=)
c.2527+1036G= (n.2527+1036G=)
2g.189004072G>TCA349844052COL3A1c.2653G>T (p.Gly885Ter)
c.2752G>T (p.Gly918Ter)
c.2527+1036G>T (n.2527+1036G>T)
2g.189004073G>ACA005646COL3A1c.2654G>A (p.Gly885Glu)
c.2753G>A (p.Gly918Glu)
c.2527+1037G>A (n.2527+1037G>A)
ClinVar dbSNP
2g.189004073G>CCA349844058COL3A1c.2654G>C (p.Gly885Ala)
c.2753G>C (p.Gly918Ala)
c.2527+1037G>C (n.2527+1037G>C)
2g.189004073G=CA1315403052COL3A1c.2654G= (p.Gly885=)
c.2753G= (p.Gly918=)
c.2527+1037G= (n.2527+1037G=)
2g.189004073G>TCA349844060COL3A1c.2654G>T (p.Gly885Val)
c.2753G>T (p.Gly918Val)
c.2527+1037G>T (n.2527+1037G>T)
2g.189004074A>CCA430312008COL3A1c.2655A>C (p.Gly885=)
c.2754A>C (p.Gly918=)
c.2527+1038A>C (n.2527+1038A>C)
2g.189004074A>GCA430312010COL3A1c.2655A>G (p.Gly885=)
c.2754A>G (p.Gly918=)
c.2527+1038A>G (n.2527+1038A>G)
2g.189004074A>TCA430312009COL3A1c.2655A>T (p.Gly885=)
c.2754A>T (p.Gly918=)
c.2527+1038A>T (n.2527+1038A>T)
2g.189004075G>ACA075582COL3A1c.2656G>A (p.Val886Met)
c.2755G>A (p.Val919Met)
c.2527+1039G>A (n.2527+1039G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.189004075G>CCA349844063COL3A1c.2656G>C (p.Val886Leu)
c.2755G>C (p.Val919Leu)
c.2527+1039G>C (n.2527+1039G>C)
2g.189004075G=CA1315403053COL3A1c.2656G= (p.Val886=)
c.2755G= (p.Val919=)
c.2527+1039G= (n.2527+1039G=)
2g.189004075G>TCA349844066COL3A1c.2656G>T (p.Val886Leu)
c.2755G>T (p.Val919Leu)
c.2527+1039G>T (n.2527+1039G>T)
dbSNP gnomAD v2 gnomAD v4
2g.189004076T>ACA349844068COL3A1c.2657T>A (p.Val886Glu)
c.2756T>A (p.Val919Glu)
c.2527+1040T>A (n.2527+1040T>A)
2g.189004076T>CCA349844070COL3A1c.2657T>C (p.Val886Ala)
c.2756T>C (p.Val919Ala)
c.2527+1040T>C (n.2527+1040T>C)
dbSNP gnomAD v4
2g.189004076T>GCA349844072COL3A1c.2657T>G (p.Val886Gly)
c.2756T>G (p.Val919Gly)
c.2527+1040T>G (n.2527+1040T>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189004076T=CA1315403054COL3A1c.2657T= (p.Val886=)
c.2756T= (p.Val919=)
c.2527+1040T= (n.2527+1040T=)
2g.189004077G>ACA430312013COL3A1c.2658G>A (p.Val886=)
c.2757G>A (p.Val919=)
c.2527+1041G>A (n.2527+1041G>A)
gnomAD v4
2g.189004077G>CCA430312015COL3A1c.2658G>C (p.Val886=)
c.2757G>C (p.Val919=)
c.2527+1041G>C (n.2527+1041G>C)
2g.189004077G>TCA430312016COL3A1c.2658G>T (p.Val886=)
c.2757G>T (p.Val919=)
c.2527+1041G>T (n.2527+1041G>T)
2g.189004078T>ACA349844073COL3A1c.2659T>A (p.Ser887Thr)
c.2758T>A (p.Ser920Thr)
c.2527+1042T>A (n.2527+1042T>A)
gnomAD v4
2g.189004078T>CCA349844075COL3A1c.2659T>C (p.Ser887Pro)
c.2758T>C (p.Ser920Pro)
c.2527+1042T>C (n.2527+1042T>C)
2g.189004078T>GCA349844077COL3A1c.2659T>G (p.Ser887Ala)
c.2758T>G (p.Ser920Ala)
c.2527+1042T>G (n.2527+1042T>G)
2g.189004079C>ACA349844085COL3A1c.2660C>A (p.Ser887Tyr)
c.2759C>A (p.Ser920Tyr)
c.2527+1043C>A (n.2527+1043C>A)
2g.189004079C>GCA349844082COL3A1c.2660C>G (p.Ser887Cys)
c.2759C>G (p.Ser920Cys)
c.2527+1043C>G (n.2527+1043C>G)
2g.189004079C>TCA349844079COL3A1c.2660C>T (p.Ser887Phe)
c.2759C>T (p.Ser920Phe)
c.2527+1043C>T (n.2527+1043C>T)
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)
ClinVar 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)
ClinVar
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)
ClinVar
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)
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)

Number of alleles fetched