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.189005327G>ACA075733COL3A1c.2833-23G>A (n.2833-23G>A)
c.2932-23G>A (n.2932-23G>A)
c.2527+2291G>A (n.2527+2291G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189005327G=CA1315403620COL3A1c.2833-23G= (n.2833-23G=)
c.2932-23G= (n.2932-23G=)
c.2527+2291G= (n.2527+2291G=)
2g.189005327G>TCA2662310243COL3A1c.2833-23G>T (n.2833-23G>T)
c.2932-23G>T (n.2932-23G>T)
c.2527+2291G>T (n.2527+2291G>T)
 gnomAD v4
2g.189005328T>CCA1040412021COL3A1c.2833-22T>C (n.2833-22T>C)
c.2932-22T>C (n.2932-22T>C)
c.2527+2292T>C (n.2527+2292T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.189005328T>GCA075731COL3A1c.2833-22T>G (n.2833-22T>G)
c.2932-22T>G (n.2932-22T>G)
c.2527+2292T>G (n.2527+2292T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189005328T=CA1315403621COL3A1c.2833-22T= (n.2833-22T=)
c.2932-22T= (n.2932-22T=)
c.2527+2292T= (n.2527+2292T=)
2g.189005332delCA2570519259COL3A1c.2833-18del (n.2833-18del)
c.2932-18del (n.2932-18del)
c.2527+2296del (n.2527+2296del)
 gnomAD v4
2g.189005330T>GCA538448934COL3A1c.2833-20T>G (n.2833-20T>G)
c.2932-20T>G (n.2932-20T>G)
c.2527+2294T>G (n.2527+2294T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189005330T=CA1315403622COL3A1c.2833-20T= (n.2833-20T=)
c.2932-20T= (n.2932-20T=)
c.2527+2294T= (n.2527+2294T=)
2g.189005332T>CCA538448935COL3A1c.2833-18T>C (n.2833-18T>C)
c.2932-18T>C (n.2932-18T>C)
c.2527+2296T>C (n.2527+2296T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189005332T>GCA2753571929COL3A1c.2833-18T>G (n.2833-18T>G)
c.2932-18T>G (n.2932-18T>G)
c.2527+2296T>G (n.2527+2296T>G)
2g.189005332T=CA1315403623COL3A1c.2833-18T= (n.2833-18T=)
c.2932-18T= (n.2932-18T=)
c.2527+2296T= (n.2527+2296T=)
2g.189005333C>ACA538448936COL3A1c.2833-17C>A (n.2833-17C>A)
c.2932-17C>A (n.2932-17C>A)
c.2527+2297C>A (n.2527+2297C>A)
 dbSNP gnomAD v2
2g.189005333C=CA1315403624COL3A1c.2833-17C= (n.2833-17C=)
c.2932-17C= (n.2932-17C=)
c.2527+2297C= (n.2527+2297C=)
2g.189005333C>TCA1040412028COL3A1c.2833-17C>T (n.2833-17C>T)
c.2932-17C>T (n.2932-17C>T)
c.2527+2297C>T (n.2527+2297C>T)
 gnomAD v3 gnomAD v4
2g.189005334A=CA1315403625COL3A1c.2833-16A= (n.2833-16A=)
c.2932-16A= (n.2932-16A=)
c.2527+2298A= (n.2527+2298A=)
2g.189005334A>CCA2662310244COL3A1c.2833-16A>C (n.2833-16A>C)
c.2932-16A>C (n.2932-16A>C)
c.2527+2298A>C (n.2527+2298A>C)
 gnomAD v4
2g.189005334A>GCA075728COL3A1c.2833-16A>G (n.2833-16A>G)
c.2932-16A>G (n.2932-16A>G)
c.2527+2298A>G (n.2527+2298A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189005334A>TCA1315403626COL3A1c.2833-16A>T (n.2833-16A>T)
c.2932-16A>T (n.2932-16A>T)
c.2527+2298A>T (n.2527+2298A>T)
 ClinVar dbSNP gnomAD v4
2g.189005335T>ACA1315403628COL3A1c.2833-15T>A (n.2833-15T>A)
c.2932-15T>A (n.2932-15T>A)
c.2527+2299T>A (n.2527+2299T>A)
 dbSNP
2g.189005335T>CCA2739277973COL3A1c.2833-15T>C (n.2833-15T>C)
c.2932-15T>C (n.2932-15T>C)
c.2527+2299T>C (n.2527+2299T>C)
 ClinVar
2g.189005335T=CA1315403627COL3A1c.2833-15T= (n.2833-15T=)
c.2932-15T= (n.2932-15T=)
c.2527+2299T= (n.2527+2299T=)
2g.189005337C>ACA2662310245COL3A1c.2833-13C>A (n.2833-13C>A)
c.2932-13C>A (n.2932-13C>A)
c.2527+2301C>A (n.2527+2301C>A)
 dbSNP gnomAD v4
2g.189005337C>GCA2753571931COL3A1c.2833-13C>G (n.2833-13C>G)
c.2932-13C>G (n.2932-13C>G)
c.2527+2301C>G (n.2527+2301C>G)
2g.189005337C>TCA2662310246COL3A1c.2833-13C>T (n.2833-13C>T)
c.2932-13C>T (n.2932-13C>T)
c.2527+2301C>T (n.2527+2301C>T)
 gnomAD v4
2g.189005338C>ACA075726COL3A1c.2833-12C>A (n.2833-12C>A)
c.2932-12C>A (n.2932-12C>A)
c.2527+2302C>A (n.2527+2302C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189005338C=CA1315403629COL3A1c.2833-12C= (n.2833-12C=)
c.2932-12C= (n.2932-12C=)
c.2527+2302C= (n.2527+2302C=)
2g.189005338C>TCA538448937COL3A1c.2833-12C>T (n.2833-12C>T)
c.2932-12C>T (n.2932-12C>T)
c.2527+2302C>T (n.2527+2302C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189005340T>ACA2740096384COL3A1c.2833-10T>A (n.2833-10T>A)
c.2932-10T>A (n.2932-10T>A)
c.2527+2304T>A (n.2527+2304T>A)
 ClinVar
2g.189005340T>CCA2580065371COL3A1c.2833-10T>C (n.2833-10T>C)
c.2932-10T>C (n.2932-10T>C)
c.2527+2304T>C (n.2527+2304T>C)
 ClinVar gnomAD v4
2g.189005342G>ACA1040412030COL3A1c.2833-8G>A (n.2833-8G>A)
c.2932-8G>A (n.2932-8G>A)
c.2527+2306G>A (n.2527+2306G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189005342G>CCA2701067671COL3A1c.2833-8G>C (n.2833-8G>C)
c.2932-8G>C (n.2932-8G>C)
c.2527+2306G>C (n.2527+2306G>C)
 dbSNP
2g.189005342G=CA1315403630COL3A1c.2833-8G= (n.2833-8G=)
c.2932-8G= (n.2932-8G=)
c.2527+2306G= (n.2527+2306G=)
2g.189005343T>CCA1315403632COL3A1c.2833-7T>C (n.2833-7T>C)
c.2932-7T>C (n.2932-7T>C)
c.2527+2307T>C (n.2527+2307T>C)
 dbSNP gnomAD v4
2g.189005343T=CA1315403631COL3A1c.2833-7T= (n.2833-7T=)
c.2932-7T= (n.2932-7T=)
c.2527+2307T= (n.2527+2307T=)
2g.189005344A=CA1315403633COL3A1c.2833-6A= (n.2833-6A=)
c.2932-6A= (n.2932-6A=)
c.2527+2308A= (n.2527+2308A=)
2g.189005344A>GCA2697551441COL3A1c.2833-6A>G (n.2833-6A>G)
c.2932-6A>G (n.2932-6A>G)
c.2527+2308A>G (n.2527+2308A>G)
 ClinVar
2g.189005344A>TCA1315403634COL3A1c.2833-6A>T (n.2833-6A>T)
c.2932-6A>T (n.2932-6A>T)
c.2527+2308A>T (n.2527+2308A>T)
 ClinVar dbSNP
2g.189005345T>CCA2753571932COL3A1c.2833-5T>C (n.2833-5T>C)
c.2932-5T>C (n.2932-5T>C)
c.2527+2309T>C (n.2527+2309T>C)
2g.189005347delCA2662310247COL3A1c.2833-3del (n.2833-3del)
c.2932-3del (n.2932-3del)
c.2527+2311del (n.2527+2311del)
 gnomAD v4
2g.189005347C>ACA2662310248COL3A1c.2833-3C>A (n.2833-3C>A)
c.2932-3C>A (n.2932-3C>A)
c.2527+2311C>A (n.2527+2311C>A)
 gnomAD v4
2g.189005348A>CCA349844667COL3A1c.2833-2A>C (n.2833-2A>C)
c.2932-2A>C (n.2932-2A>C)
c.2527+2312A>C (n.2527+2312A>C)
2g.189005348A>GCA349844668COL3A1c.2833-2A>G (n.2833-2A>G)
c.2932-2A>G (n.2932-2A>G)
c.2527+2312A>G (n.2527+2312A>G)
2g.189005348A>TCA349844669COL3A1c.2833-2A>T (n.2833-2A>T)
c.2932-2A>T (n.2932-2A>T)
c.2527+2312A>T (n.2527+2312A>T)
2g.189005348_189005349delinsAGCA1315403635COL3A1c.2833-2_2833-1delinsAG (n.2833-2_2833-1delinsAG)
c.2932-2_2932-1delinsAG (n.2932-2_2932-1delinsAG)
c.2527+2312_2527+2313delinsAG (n.2527+2312_2527+2313delinsAG)
2g.189005349G>ACA349844670COL3A1c.2833-1G>A (n.2833-1G>A)
c.2932-1G>A (n.2932-1G>A)
c.2527+2313G>A (n.2527+2313G>A)
2g.189005349G>CCA349844671COL3A1c.2833-1G>C (n.2833-1G>C)
c.2932-1G>C (n.2932-1G>C)
c.2527+2313G>C (n.2527+2313G>C)
2g.189005349G>TCA349844672COL3A1c.2833-1G>T (n.2833-1G>T)
c.2932-1G>T (n.2932-1G>T)
c.2527+2313G>T (n.2527+2313G>T)
2g.189005351delCA1139657568COL3A1c.2834del
c.2933del
c.2527+2315del (n.2527+2315del)
 ClinVar dbSNP
2g.189005350G>ACA349844673COL3A1c.2833G>A (p.Gly945Ser)
c.2932G>A (p.Gly978Ser)
c.2527+2314G>A (n.2527+2314G>A)
 ClinVar dbSNP
2g.189005350G>CCA349844675COL3A1c.2833G>C (p.Gly945Arg)
c.2932G>C (p.Gly978Arg)
c.2527+2314G>C (n.2527+2314G>C)
2g.189005350G=CA1315403636COL3A1c.2833G= (p.Gly945=)
c.2932G= (p.Gly978=)
c.2527+2314G= (n.2527+2314G=)
2g.189005350G>TCA349844674COL3A1c.2833G>T (p.Gly945Cys)
c.2932G>T (p.Gly978Cys)
c.2527+2314G>T (n.2527+2314G>T)
 COSMIC
2g.189005351G>ACA005873COL3A1c.2834G>A (p.Gly945Asp)
c.2933G>A (p.Gly978Asp)
c.2527+2315G>A (n.2527+2315G>A)
 ClinVar dbSNP
2g.189005351G>CCA349844677COL3A1c.2834G>C (p.Gly945Ala)
c.2933G>C (p.Gly978Ala)
c.2527+2315G>C (n.2527+2315G>C)
2g.189005351G=CA1315403637COL3A1c.2834G= (p.Gly945=)
c.2933G= (p.Gly978=)
c.2527+2315G= (n.2527+2315G=)
2g.189005351G>TCA349844676COL3A1c.2834G>T (p.Gly945Val)
c.2933G>T (p.Gly978Val)
c.2527+2315G>T (n.2527+2315G>T)
 COSMIC
2g.189005352T>ACA430312429COL3A1c.2835T>A (p.Gly945=)
c.2934T>A (p.Gly978=)
c.2527+2316T>A (n.2527+2316T>A)
2g.189005352T>CCA430312430COL3A1c.2835T>C (p.Gly945=)
c.2934T>C (p.Gly978=)
c.2527+2316T>C (n.2527+2316T>C)
 dbSNP
2g.189005352T>GCA430312431COL3A1c.2835T>G (p.Gly945=)
c.2934T>G (p.Gly978=)
c.2527+2316T>G (n.2527+2316T>G)
2g.189005352T=CA1315403638COL3A1c.2835T= (p.Gly945=)
c.2934T= (p.Gly978=)
c.2527+2316T= (n.2527+2316T=)
2g.189005353G>ACA349844678COL3A1c.2836G>A (p.Glu946Lys)
c.2935G>A (p.Glu979Lys)
c.2527+2317G>A (n.2527+2317G>A)
2g.189005353G>CCA349844679COL3A1c.2836G>C (p.Glu946Gln)
c.2935G>C (p.Glu979Gln)
c.2527+2317G>C (n.2527+2317G>C)
2g.189005353G=CA1315403639COL3A1c.2836G= (p.Glu946=)
c.2935G= (p.Glu979=)
c.2527+2317G= (n.2527+2317G=)
2g.189005353G>TCA005879COL3A1c.2836G>T (p.Glu946Ter)
c.2935G>T (p.Glu979Ter)
c.2527+2317G>T (n.2527+2317G>T)
 ClinVar dbSNP
2g.189005354A>CCA349844680COL3A1c.2837A>C (p.Glu946Ala)
c.2936A>C (p.Glu979Ala)
c.2527+2318A>C (n.2527+2318A>C)
2g.189005354A>GCA349844681COL3A1c.2837A>G (p.Glu946Gly)
c.2936A>G (p.Glu979Gly)
c.2527+2318A>G (n.2527+2318A>G)
2g.189005354A>TCA349844682COL3A1c.2837A>T (p.Glu946Val)
c.2936A>T (p.Glu979Val)
c.2527+2318A>T (n.2527+2318A>T)
2g.189005355A>CCA349844683COL3A1c.2838A>C (p.Glu946Asp)
c.2937A>C (p.Glu979Asp)
c.2527+2319A>C (n.2527+2319A>C)
 gnomAD v4
2g.189005355A>GCA430312435COL3A1c.2838A>G (p.Glu946=)
c.2937A>G (p.Glu979=)
c.2527+2319A>G (n.2527+2319A>G)
 COSMIC
2g.189005355A>TCA349844684COL3A1c.2838A>T (p.Glu946Asp)
c.2937A>T (p.Glu979Asp)
c.2527+2319A>T (n.2527+2319A>T)
2g.189005356A>CCA349844685COL3A1c.2839A>C (p.Ser947Arg)
c.2938A>C (p.Ser980Arg)
c.2527+2320A>C (n.2527+2320A>C)
2g.189005356A>GCA349844686COL3A1c.2839A>G (p.Ser947Gly)
c.2938A>G (p.Ser980Gly)
c.2527+2320A>G (n.2527+2320A>G)
2g.189005356A>TCA349844687COL3A1c.2839A>T (p.Ser947Cys)
c.2938A>T (p.Ser980Cys)
c.2527+2320A>T (n.2527+2320A>T)
2g.189005356_189005365delinsCGGTCTCA2586965512COL3A1c.2839_2848delinsCGGTCT (p.Ser947ArgfsTer?)
c.2938_2947delinsCGGTCT (p.Ser980ArgfsTer?)
c.2527+2320_2527+2329delinsCGGTCT (n.2527+2320_2527+2329delinsCGGTCT)
2g.189005357G>ACA349844690COL3A1c.2840G>A (p.Ser947Asn)
c.2939G>A (p.Ser980Asn)
c.2527+2321G>A (n.2527+2321G>A)
2g.189005357G>CCA349844688COL3A1c.2840G>C (p.Ser947Thr)
c.2939G>C (p.Ser980Thr)
c.2527+2321G>C (n.2527+2321G>C)
2g.189005357G>TCA349844689COL3A1c.2840G>T (p.Ser947Ile)
c.2939G>T (p.Ser980Ile)
c.2527+2321G>T (n.2527+2321G>T)
2g.189005357_189005365delinsCGGTCTCA2586965513COL3A1c.2840_2848delinsCGGTCT (p.Ser947_Pro950delinsThrValSer)
c.2939_2947delinsCGGTCT (p.Ser980_Pro983delinsThrValSer)
c.2527+2321_2527+2329delinsCGGTCT (n.2527+2321_2527+2329delinsCGGTCT)
2g.189005358T>ACA349844691COL3A1c.2841T>A (p.Ser947Arg)
c.2940T>A (p.Ser980Arg)
c.2527+2322T>A (n.2527+2322T>A)
2g.189005358T>CCA430312441COL3A1c.2841T>C (p.Ser947=)
c.2940T>C (p.Ser980=)
c.2527+2322T>C (n.2527+2322T>C)
 gnomAD v4
2g.189005358T>GCA349844692COL3A1c.2841T>G (p.Ser947Arg)
c.2940T>G (p.Ser980Arg)
c.2527+2322T>G (n.2527+2322T>G)
2g.189005359G>ACA005885COL3A1c.2842G>A (p.Gly948Arg)
c.2941G>A (p.Gly981Arg)
c.2527+2323G>A (n.2527+2323G>A)
 ClinVar dbSNP
2g.189005359G>CCA005892COL3A1c.2842G>C (p.Gly948Arg)
c.2941G>C (p.Gly981Arg)
c.2527+2323G>C (n.2527+2323G>C)
 ClinVar dbSNP
2g.189005359G=CA1315403640COL3A1c.2842G= (p.Gly948=)
c.2941G= (p.Gly981=)
c.2527+2323G= (n.2527+2323G=)
2g.189005359G>TCA349844693COL3A1c.2842G>T (p.Gly948Trp)
c.2941G>T (p.Gly981Trp)
c.2527+2323G>T (n.2527+2323G>T)
2g.189005360G>ACA349844694COL3A1c.2843G>A (p.Gly948Glu)
c.2942G>A (p.Gly981Glu)
c.2527+2324G>A (n.2527+2324G>A)
 COSMIC
2g.189005360G>CCA349844695COL3A1c.2843G>C (p.Gly948Ala)
c.2942G>C (p.Gly981Ala)
c.2527+2324G>C (n.2527+2324G>C)
2g.189005360G>TCA349844696COL3A1c.2843G>T (p.Gly948Val)
c.2942G>T (p.Gly981Val)
c.2527+2324G>T (n.2527+2324G>T)
2g.189005361G>ACA430312445COL3A1c.2844G>A (p.Gly948=)
c.2943G>A (p.Gly981=)
c.2527+2325G>A (n.2527+2325G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.189005361G>CCA430312446COL3A1c.2844G>C (p.Gly948=)
c.2943G>C (p.Gly981=)
c.2527+2325G>C (n.2527+2325G>C)
2g.189005361G>TCA430312448COL3A1c.2844G>T (p.Gly948=)
c.2943G>T (p.Gly981=)
c.2527+2325G>T (n.2527+2325G>T)
2g.189005362A>CCA349844697COL3A1c.2845A>C (p.Lys949Gln)
c.2944A>C (p.Lys982Gln)
c.2527+2326A>C (n.2527+2326A>C)
2g.189005362A>GCA349844698COL3A1c.2845A>G (p.Lys949Glu)
c.2944A>G (p.Lys982Glu)
c.2527+2326A>G (n.2527+2326A>G)
2g.189005362A>TCA349844699COL3A1c.2845A>T (p.Lys949Ter)
c.2944A>T (p.Lys982Ter)
c.2527+2326A>T (n.2527+2326A>T)
2g.189005363A>CCA349844701COL3A1c.2846A>C (p.Lys949Thr)
c.2945A>C (p.Lys982Thr)
c.2527+2327A>C (n.2527+2327A>C)
2g.189005363A>GCA349844702COL3A1c.2846A>G (p.Lys949Arg)
c.2945A>G (p.Lys982Arg)
c.2527+2327A>G (n.2527+2327A>G)
2g.189005363A>TCA349844700COL3A1c.2846A>T (p.Lys949Ile)
c.2945A>T (p.Lys982Ile)
c.2527+2327A>T (n.2527+2327A>T)
2g.189005364A>CCA349844703COL3A1c.2847A>C (p.Lys949Asn)
c.2946A>C (p.Lys982Asn)
c.2527+2328A>C (n.2527+2328A>C)
 gnomAD v4
2g.189005364A>GCA430312452COL3A1c.2847A>G (p.Lys949=)
c.2946A>G (p.Lys982=)
c.2527+2328A>G (n.2527+2328A>G)
 COSMIC
2g.189005364A>TCA349844704COL3A1c.2847A>T (p.Lys949Asn)
c.2946A>T (p.Lys982Asn)
c.2527+2328A>T (n.2527+2328A>T)
2g.189005365C>ACA349844705COL3A1c.2848C>A (p.Pro950Thr)
c.2947C>A (p.Pro983Thr)
c.2527+2329C>A (n.2527+2329C>A)
2g.189005365C=CA1315403641COL3A1c.2848C= (p.Pro950=)
c.2947C= (p.Pro983=)
c.2527+2329C= (n.2527+2329C=)
2g.189005365C>GCA349844706COL3A1c.2848C>G (p.Pro950Ala)
c.2947C>G (p.Pro983Ala)
c.2527+2329C>G (n.2527+2329C>G)
2g.189005365C>TCA349844707COL3A1c.2848C>T (p.Pro950Ser)
c.2947C>T (p.Pro983Ser)
c.2527+2329C>T (n.2527+2329C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189005366C>ACA075749COL3A1c.2849C>A (p.Pro950Gln)
c.2948C>A (p.Pro983Gln)
c.2527+2330C>A (n.2527+2330C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189005366C=CA1315403642COL3A1c.2849C= (p.Pro950=)
c.2948C= (p.Pro983=)
c.2527+2330C= (n.2527+2330C=)
2g.189005366C>GCA349844709COL3A1c.2849C>G (p.Pro950Arg)
c.2948C>G (p.Pro983Arg)
c.2527+2330C>G (n.2527+2330C>G)
2g.189005366C>TCA349844708COL3A1c.2849C>T (p.Pro950Leu)
c.2948C>T (p.Pro983Leu)
c.2527+2330C>T (n.2527+2330C>T)
 gnomAD v4
2g.189005367A>CCA430312455COL3A1c.2850A>C (p.Pro950=)
c.2949A>C (p.Pro983=)
c.2527+2331A>C (n.2527+2331A>C)
 gnomAD v4
2g.189005367A>GCA430312457COL3A1c.2850A>G (p.Pro950=)
c.2949A>G (p.Pro983=)
c.2527+2331A>G (n.2527+2331A>G)
2g.189005367A>TCA430312459COL3A1c.2850A>T (p.Pro950=)
c.2949A>T (p.Pro983=)
c.2527+2331A>T (n.2527+2331A>T)
2g.189005368G>ACA349844710COL3A1c.2851G>A (p.Gly951Arg)
c.2950G>A (p.Gly984Arg)
c.2527+2332G>A (n.2527+2332G>A)
 ClinVar dbSNP
2g.189005368G>CCA349844711COL3A1c.2851G>C (p.Gly951Arg)
c.2950G>C (p.Gly984Arg)
c.2527+2332G>C (n.2527+2332G>C)
2g.189005368G>TCA349844712COL3A1c.2851G>T (p.Gly951Ter)
c.2950G>T (p.Gly984Ter)
c.2527+2332G>T (n.2527+2332G>T)
2g.189005368_189005369delinsACCA005897COL3A1c.2851_2852delinsAC (p.Gly951Thr)
c.2950_2951delinsAC (p.Gly984Thr)
c.2527+2332_2527+2333delinsAC (n.2527+2332_2527+2333delinsAC)
 ClinVar dbSNP
2g.189005368_189005369delinsGGCA1315403643COL3A1c.2851_2852delinsGG (p.Gly951=)
c.2950_2951delinsGG (p.Gly984=)
c.2527+2332_2527+2333delinsGG (n.2527+2332_2527+2333delinsGG)
2g.189005369G>ACA349844713COL3A1c.2852G>A (p.Gly951Glu)
c.2951G>A (p.Gly984Glu)
c.2527+2333G>A (n.2527+2333G>A)
2g.189005369G>CCA349844714COL3A1c.2852G>C (p.Gly951Ala)
c.2951G>C (p.Gly984Ala)
c.2527+2333G>C (n.2527+2333G>C)
2g.189005369G>TCA349844715COL3A1c.2852G>T (p.Gly951Val)
c.2951G>T (p.Gly984Val)
c.2527+2333G>T (n.2527+2333G>T)
2g.189005370A>CCA430312462COL3A1c.2853A>C (p.Gly951=)
c.2952A>C (p.Gly984=)
c.2527+2334A>C (n.2527+2334A>C)
2g.189005370A>GCA430312463COL3A1c.2853A>G (p.Gly951=)
c.2952A>G (p.Gly984=)
c.2527+2334A>G (n.2527+2334A>G)
2g.189005370A>TCA430312464COL3A1c.2853A>T (p.Gly951=)
c.2952A>T (p.Gly984=)
c.2527+2334A>T (n.2527+2334A>T)
2g.189005371G>ACA349844716COL3A1c.2854G>A (p.Ala952Thr)
c.2953G>A (p.Ala985Thr)
c.2527+2335G>A (n.2527+2335G>A)
2g.189005371G>CCA349844718COL3A1c.2854G>C (p.Ala952Pro)
c.2953G>C (p.Ala985Pro)
c.2527+2335G>C (n.2527+2335G>C)
2g.189005371G>TCA349844717COL3A1c.2854G>T (p.Ala952Ser)
c.2953G>T (p.Ala985Ser)
c.2527+2335G>T (n.2527+2335G>T)
2g.189005372C>ACA075752COL3A1c.2855C>A (p.Ala952Asp)
c.2954C>A (p.Ala985Asp)
c.2527+2336C>A (n.2527+2336C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189005372C=CA1315403644COL3A1c.2855C= (p.Ala952=)
c.2954C= (p.Ala985=)
c.2527+2336C= (n.2527+2336C=)
2g.189005372C>GCA349844719COL3A1c.2855C>G (p.Ala952Gly)
c.2954C>G (p.Ala985Gly)
c.2527+2336C>G (n.2527+2336C>G)
2g.189005372C>TCA349844720COL3A1c.2855C>T (p.Ala952Val)
c.2954C>T (p.Ala985Val)
c.2527+2336C>T (n.2527+2336C>T)
2g.189005373_189005376dupCA2573134199COL3A1c.2856_2859dup (p.Gly954Ter)
c.2955_2958dup (p.Gly987Ter)
c.2527+2337_2527+2340dup (n.2527+2337_2527+2340dup)
 ClinVar dbSNP
2g.189005373T>ACA430312467COL3A1c.2856T>A (p.Ala952=)
c.2955T>A (p.Ala985=)
c.2527+2337T>A (n.2527+2337T>A)
2g.189005373T>CCA430312468COL3A1c.2856T>C (p.Ala952=)
c.2955T>C (p.Ala985=)
c.2527+2337T>C (n.2527+2337T>C)
2g.189005373T>GCA430312469COL3A1c.2856T>G (p.Ala952=)
c.2955T>G (p.Ala985=)
c.2527+2337T>G (n.2527+2337T>G)
2g.189005374A>CCA349844721COL3A1c.2857A>C (p.Asn953His)
c.2956A>C (p.Asn986His)
c.2527+2338A>C (n.2527+2338A>C)
2g.189005374A>GCA349844722COL3A1c.2857A>G (p.Asn953Asp)
c.2956A>G (p.Asn986Asp)
c.2527+2338A>G (n.2527+2338A>G)
2g.189005374A>TCA349844723COL3A1c.2857A>T (p.Asn953Tyr)
c.2956A>T (p.Asn986Tyr)
c.2527+2338A>T (n.2527+2338A>T)
2g.189005375A=CA1315403645COL3A1c.2858A= (p.Asn953=)
c.2957A= (p.Asn986=)
c.2527+2339A= (n.2527+2339A=)
2g.189005375A>CCA349844724COL3A1c.2858A>C (p.Asn953Thr)
c.2957A>C (p.Asn986Thr)
c.2527+2339A>C (n.2527+2339A>C)
2g.189005375A>GCA349844725COL3A1c.2858A>G (p.Asn953Ser)
c.2957A>G (p.Asn986Ser)
c.2527+2339A>G (n.2527+2339A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189005375A>TCA349844726COL3A1c.2858A>T (p.Asn953Ile)
c.2957A>T (p.Asn986Ile)
c.2527+2339A>T (n.2527+2339A>T)
2g.189005376C>ACA349844727COL3A1c.2859C>A (p.Asn953Lys)
c.2958C>A (p.Asn986Lys)
c.2527+2340C>A (n.2527+2340C>A)
2g.189005376C=CA1315403646COL3A1c.2859C= (p.Asn953=)
c.2958C= (p.Asn986=)
c.2527+2340C= (n.2527+2340C=)
2g.189005376C>GCA349844728COL3A1c.2859C>G (p.Asn953Lys)
c.2958C>G (p.Asn986Lys)
c.2527+2340C>G (n.2527+2340C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189005376C>TCA075756COL3A1c.2859C>T (p.Asn953=)
c.2958C>T (p.Asn986=)
c.2527+2340C>T (n.2527+2340C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189005376_189005377insCGTCA2697551442COL3A1c.2859_2860insCGT (p.Asn953_Gly954insArg)
c.2958_2959insCGT (p.Asn986_Gly987insArg)
c.2527+2340_2527+2341insCGT (n.2527+2340_2527+2341insCGT)
 ClinVar
2g.189005377G>ACA005904COL3A1c.2860G>A (p.Gly954Ser)
c.2959G>A (p.Gly987Ser)
c.2527+2341G>A (n.2527+2341G>A)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.189005377G>CCA349844730COL3A1c.2860G>C (p.Gly954Arg)
c.2959G>C (p.Gly987Arg)
c.2527+2341G>C (n.2527+2341G>C)
2g.189005377G=CA1315403647COL3A1c.2860G= (p.Gly954=)
c.2959G= (p.Gly987=)
c.2527+2341G= (n.2527+2341G=)
2g.189005377G>TCA349844729COL3A1c.2860G>T (p.Gly954Cys)
c.2959G>T (p.Gly987Cys)
c.2527+2341G>T (n.2527+2341G>T)
 ClinVar
2g.189005378G>ACA349844731COL3A1c.2861G>A (p.Gly954Asp)
c.2960G>A (p.Gly987Asp)
c.2527+2342G>A (n.2527+2342G>A)
2g.189005378G>CCA349844733COL3A1c.2861G>C (p.Gly954Ala)
c.2960G>C (p.Gly987Ala)
c.2527+2342G>C (n.2527+2342G>C)
2g.189005378G>TCA349844732COL3A1c.2861G>T (p.Gly954Val)
c.2960G>T (p.Gly987Val)
c.2527+2342G>T (n.2527+2342G>T)
2g.189005379T>ACA430312477COL3A1c.2862T>A (p.Gly954=)
c.2961T>A (p.Gly987=)
c.2527+2343T>A (n.2527+2343T>A)
2g.189005379T>CCA430312478COL3A1c.2862T>C (p.Gly954=)
c.2961T>C (p.Gly987=)
c.2527+2343T>C (n.2527+2343T>C)
2g.189005379T>GCA430312479COL3A1c.2862T>G (p.Gly954=)
c.2961T>G (p.Gly987=)
c.2527+2343T>G (n.2527+2343T>G)
 dbSNP gnomAD v2
2g.189005379T=CA1315403648COL3A1c.2862T= (p.Gly954=)
c.2961T= (p.Gly987=)
c.2527+2343T= (n.2527+2343T=)
2g.189005380C>ACA349844734COL3A1c.2863C>A (p.Leu955Ile)
c.2962C>A (p.Leu988Ile)
c.2527+2344C>A (n.2527+2344C>A)
 COSMIC
2g.189005380C=CA1315403649COL3A1c.2863C= (p.Leu955=)
c.2962C= (p.Leu988=)
c.2527+2344C= (n.2527+2344C=)
2g.189005380C>GCA349844735COL3A1c.2863C>G (p.Leu955Val)
c.2962C>G (p.Leu988Val)
c.2527+2344C>G (n.2527+2344C>G)
 gnomAD v4
2g.189005380C>TCA62558408COL3A1c.2863C>T (p.Leu955Phe)
c.2962C>T (p.Leu988Phe)
c.2527+2344C>T (n.2527+2344C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189005381T>ACA075758COL3A1c.2864T>A (p.Leu955His)
c.2963T>A (p.Leu988His)
c.2527+2345T>A (n.2527+2345T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189005381T>CCA349844736COL3A1c.2864T>C (p.Leu955Pro)
c.2963T>C (p.Leu988Pro)
c.2527+2345T>C (n.2527+2345T>C)
 ClinVar dbSNP
2g.189005381T>GCA349844737COL3A1c.2864T>G (p.Leu955Arg)
c.2963T>G (p.Leu988Arg)
c.2527+2345T>G (n.2527+2345T>G)
2g.189005381T=CA1315403650COL3A1c.2864T= (p.Leu955=)
c.2963T= (p.Leu988=)
c.2527+2345T= (n.2527+2345T=)
2g.189005382C>ACA430312484COL3A1c.2865C>A (p.Leu955=)
c.2964C>A (p.Leu988=)
c.2527+2346C>A (n.2527+2346C>A)
2g.189005382C=CA1315403651COL3A1c.2865C= (p.Leu955=)
c.2964C= (p.Leu988=)
c.2527+2346C= (n.2527+2346C=)
2g.189005382C>GCA430312487COL3A1c.2865C>G (p.Leu955=)
c.2964C>G (p.Leu988=)
c.2527+2346C>G (n.2527+2346C>G)
2g.189005382C>TCA430312485COL3A1c.2865C>T (p.Leu955=)
c.2964C>T (p.Leu988=)
c.2527+2346C>T (n.2527+2346C>T)
 dbSNP
2g.189005383A>CCA349844738COL3A1c.2866A>C (p.Ser956Arg)
c.2965A>C (p.Ser989Arg)
c.2527+2347A>C (n.2527+2347A>C)
2g.189005383A>GCA349844739COL3A1c.2866A>G (p.Ser956Gly)
c.2965A>G (p.Ser989Gly)
c.2527+2347A>G (n.2527+2347A>G)
 gnomAD v4
2g.189005383A>TCA349844740COL3A1c.2866A>T (p.Ser956Cys)
c.2965A>T (p.Ser989Cys)
c.2527+2347A>T (n.2527+2347A>T)
2g.189005384G>ACA349844741COL3A1c.2867G>A (p.Ser956Asn)
c.2966G>A (p.Ser989Asn)
c.2527+2348G>A (n.2527+2348G>A)
 gnomAD v4
2g.189005384G>CCA349844742COL3A1c.2867G>C (p.Ser956Thr)
c.2966G>C (p.Ser989Thr)
c.2527+2348G>C (n.2527+2348G>C)
2g.189005384G>TCA349844743COL3A1c.2867G>T (p.Ser956Ile)
c.2966G>T (p.Ser989Ile)
c.2527+2348G>T (n.2527+2348G>T)
2g.189005385T>ACA349844745COL3A1c.2868T>A (p.Ser956Arg)
c.2967T>A (p.Ser989Arg)
c.2527+2349T>A (n.2527+2349T>A)
2g.189005385T>CCA430312490COL3A1c.2868T>C (p.Ser956=)
c.2967T>C (p.Ser989=)
c.2527+2349T>C (n.2527+2349T>C)
 ClinVar dbSNP COSMIC
2g.189005385T>GCA349844744COL3A1c.2868T>G (p.Ser956Arg)
c.2967T>G (p.Ser989Arg)
c.2527+2349T>G (n.2527+2349T>G)
 gnomAD v4
2g.189005385T=CA1315403652COL3A1c.2868T= (p.Ser956=)
c.2967T= (p.Ser989=)
c.2527+2349T= (n.2527+2349T=)
2g.189005386G>ACA349844746COL3A1c.2869G>A (p.Gly957Arg)
c.2968G>A (p.Gly990Arg)
c.2527+2350G>A (n.2527+2350G>A)
2g.189005386G>CCA349844747COL3A1c.2869G>C (p.Gly957Arg)
c.2968G>C (p.Gly990Arg)
c.2527+2350G>C (n.2527+2350G>C)
2g.189005386G>TCA349844748COL3A1c.2869G>T (p.Gly957Ter)
c.2968G>T (p.Gly990Ter)
c.2527+2350G>T (n.2527+2350G>T)
2g.189005387G>ACA349844749COL3A1c.2870G>A (p.Gly957Glu)
c.2969G>A (p.Gly990Glu)
c.2527+2351G>A (n.2527+2351G>A)
 COSMIC
2g.189005387G>CCA349844750COL3A1c.2870G>C (p.Gly957Ala)
c.2969G>C (p.Gly990Ala)
c.2527+2351G>C (n.2527+2351G>C)
2g.189005387G>TCA349844751COL3A1c.2870G>T (p.Gly957Val)
c.2969G>T (p.Gly990Val)
c.2527+2351G>T (n.2527+2351G>T)
2g.189005388A>CCA430312494COL3A1c.2871A>C (p.Gly957=)
c.2970A>C (p.Gly990=)
c.2527+2352A>C (n.2527+2352A>C)
2g.189005388A>GCA430312495COL3A1c.2871A>G (p.Gly957=)
c.2970A>G (p.Gly990=)
c.2527+2352A>G (n.2527+2352A>G)
2g.189005388A>TCA430312499COL3A1c.2871A>T (p.Gly957=)
c.2970A>T (p.Gly990=)
c.2527+2352A>T (n.2527+2352A>T)
2g.189005389G>ACA349844754COL3A1c.2872G>A (p.Glu958Lys)
c.2971G>A (p.Glu991Lys)
c.2527+2353G>A (n.2527+2353G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189005389G>CCA349844752COL3A1c.2872G>C (p.Glu958Gln)
c.2971G>C (p.Glu991Gln)
c.2527+2353G>C (n.2527+2353G>C)
2g.189005389G=CA1315403653COL3A1c.2872G= (p.Glu958=)
c.2971G= (p.Glu991=)
c.2527+2353G= (n.2527+2353G=)
2g.189005389G>TCA349844753COL3A1c.2872G>T (p.Glu958Ter)
c.2971G>T (p.Glu991Ter)
c.2527+2353G>T (n.2527+2353G>T)
2g.189005390A>CCA349844755COL3A1c.2873A>C (p.Glu958Ala)
c.2972A>C (p.Glu991Ala)
c.2527+2354A>C (n.2527+2354A>C)
2g.189005390A>GCA349844756COL3A1c.2873A>G (p.Glu958Gly)
c.2972A>G (p.Glu991Gly)
c.2527+2354A>G (n.2527+2354A>G)
2g.189005390A>TCA349844757COL3A1c.2873A>T (p.Glu958Val)
c.2972A>T (p.Glu991Val)
c.2527+2354A>T (n.2527+2354A>T)
2g.189005391A=CA1315403654COL3A1c.2874A= (p.Glu958=)
c.2973A= (p.Glu991=)
c.2527+2355A= (n.2527+2355A=)
2g.189005391A>CCA349844758COL3A1c.2874A>C (p.Glu958Asp)
c.2973A>C (p.Glu991Asp)
c.2527+2355A>C (n.2527+2355A>C)
2g.189005391A>GCA430312505COL3A1c.2874A>G (p.Glu958=)
c.2973A>G (p.Glu991=)
c.2527+2355A>G (n.2527+2355A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189005391A>TCA349844759COL3A1c.2874A>T (p.Glu958Asp)
c.2973A>T (p.Glu991Asp)
c.2527+2355A>T (n.2527+2355A>T)
2g.189005392C>ACA349844760COL3A1c.2875C>A (p.Arg959Ser)
c.2974C>A (p.Arg992Ser)
c.2527+2356C>A (n.2527+2356C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189005392C=CA1315403655COL3A1c.2875C= (p.Arg959=)
c.2974C= (p.Arg992=)
c.2527+2356C= (n.2527+2356C=)
2g.189005392C>GCA349844762COL3A1c.2875C>G (p.Arg959Gly)
c.2974C>G (p.Arg992Gly)
c.2527+2356C>G (n.2527+2356C>G)
2g.189005392C>TCA349844761COL3A1c.2875C>T (p.Arg959Cys)
c.2974C>T (p.Arg992Cys)
c.2527+2356C>T (n.2527+2356C>T)
 dbSNP gnomAD v4
2g.189005393G>ACA62558409COL3A1c.2876G>A (p.Arg959His)
c.2975G>A (p.Arg992His)
c.2527+2357G>A (n.2527+2357G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189005393G>CCA349844763COL3A1c.2876G>C (p.Arg959Pro)
c.2975G>C (p.Arg992Pro)
c.2527+2357G>C (n.2527+2357G>C)
2g.189005393G=CA1315403656COL3A1c.2876G= (p.Arg959=)
c.2975G= (p.Arg992=)
c.2527+2357G= (n.2527+2357G=)
2g.189005393G>TCA349844764COL3A1c.2876G>T (p.Arg959Leu)
c.2975G>T (p.Arg992Leu)
c.2527+2357G>T (n.2527+2357G>T)
 gnomAD v4
2g.189005394T>ACA430312510COL3A1c.2877T>A (p.Arg959=)
c.2976T>A (p.Arg992=)
c.2527+2358T>A (n.2527+2358T>A)
2g.189005394T>CCA430312513COL3A1c.2877T>C (p.Arg959=)
c.2976T>C (p.Arg992=)
c.2527+2358T>C (n.2527+2358T>C)
 gnomAD v4
2g.189005394T>GCA430312511COL3A1c.2877T>G (p.Arg959=)
c.2976T>G (p.Arg992=)
c.2527+2358T>G (n.2527+2358T>G)
2g.189005395G>ACA349844765COL3A1c.2878G>A (p.Gly960Ser)
c.2977G>A (p.Gly993Ser)
c.2527+2359G>A (n.2527+2359G>A)
2g.189005395G>CCA349844766COL3A1c.2878G>C (p.Gly960Arg)
c.2977G>C (p.Gly993Arg)
c.2527+2359G>C (n.2527+2359G>C)
2g.189005395G=CA1315403657COL3A1c.2878G= (p.Gly960=)
c.2977G= (p.Gly993=)
c.2527+2359G= (n.2527+2359G=)
2g.189005395G>TCA005911COL3A1c.2878G>T (p.Gly960Cys)
c.2977G>T (p.Gly993Cys)
c.2527+2359G>T (n.2527+2359G>T)
 ClinVar dbSNP
2g.189005396G>ACA005915COL3A1c.2879G>A (p.Gly960Asp)
c.2978G>A (p.Gly993Asp)
c.2527+2360G>A (n.2527+2360G>A)
 ClinVar dbSNP
2g.189005396G>CCA349844767COL3A1c.2879G>C (p.Gly960Ala)
c.2978G>C (p.Gly993Ala)
c.2527+2360G>C (n.2527+2360G>C)
2g.189005396G=CA1315403658COL3A1c.2879G= (p.Gly960=)
c.2978G= (p.Gly993=)
c.2527+2360G= (n.2527+2360G=)
2g.189005396G>TCA349844768COL3A1c.2879G>T (p.Gly960Val)
c.2978G>T (p.Gly993Val)
c.2527+2360G>T (n.2527+2360G>T)
2g.189005397T>ACA430312518COL3A1c.2880T>A (p.Gly960=)
c.2979T>A (p.Gly993=)
c.2527+2361T>A (n.2527+2361T>A)
2g.189005397T>CCA430312519COL3A1c.2880T>C (p.Gly960=)
c.2979T>C (p.Gly993=)
c.2527+2361T>C (n.2527+2361T>C)
2g.189005397T>GCA430312520COL3A1c.2880T>G (p.Gly960=)
c.2979T>G (p.Gly993=)
c.2527+2361T>G (n.2527+2361T>G)
2g.189005398C>ACA075762COL3A1c.2881C>A (p.Pro961Thr)
c.2980C>A (p.Pro994Thr)
c.2527+2362C>A (n.2527+2362C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189005398C=CA1315403659COL3A1c.2881C= (p.Pro961=)
c.2980C= (p.Pro994=)
c.2527+2362C= (n.2527+2362C=)
2g.189005398C>GCA075765COL3A1c.2881C>G (p.Pro961Ala)
c.2980C>G (p.Pro994Ala)
c.2527+2362C>G (n.2527+2362C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189005398C>TCA349844769COL3A1c.2881C>T (p.Pro961Ser)
c.2980C>T (p.Pro994Ser)
c.2527+2362C>T (n.2527+2362C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189005399C>ACA349844772COL3A1c.2882C>A (p.Pro961His)
c.2981C>A (p.Pro994His)
c.2527+2363C>A (n.2527+2363C>A)
 ClinVar dbSNP
2g.189005399C=CA1315403660COL3A1c.2882C= (p.Pro961=)
c.2981C= (p.Pro994=)
c.2527+2363C= (n.2527+2363C=)
2g.189005399C>GCA349844771COL3A1c.2882C>G (p.Pro961Arg)
c.2981C>G (p.Pro994Arg)
c.2527+2363C>G (n.2527+2363C>G)
2g.189005399C>TCA349844770COL3A1c.2882C>T (p.Pro961Leu)
c.2981C>T (p.Pro994Leu)
c.2527+2363C>T (n.2527+2363C>T)
 ClinVar dbSNP gnomAD v4
2g.189005400C>ACA430312523COL3A1c.2883C>A (p.Pro961=)
c.2982C>A (p.Pro994=)
c.2527+2364C>A (n.2527+2364C>A)
2g.189005400C=CA1315403661COL3A1c.2883C= (p.Pro961=)
c.2982C= (p.Pro994=)
c.2527+2364C= (n.2527+2364C=)
2g.189005400C>GCA430312524COL3A1c.2883C>G (p.Pro961=)
c.2982C>G (p.Pro994=)
c.2527+2364C>G (n.2527+2364C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189005400C>TCA430312525COL3A1c.2883C>T (p.Pro961=)
c.2982C>T (p.Pro994=)
c.2527+2364C>T (n.2527+2364C>T)
 ClinVar gnomAD v4
2g.189005401C>ACA349844773COL3A1c.2884C>A (p.Pro962Thr)
c.2983C>A (p.Pro995Thr)
c.2527+2365C>A (n.2527+2365C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189005401C=CA1315403662COL3A1c.2884C= (p.Pro962=)
c.2983C= (p.Pro995=)
c.2527+2365C= (n.2527+2365C=)
2g.189005401C>GCA349844774COL3A1c.2884C>G (p.Pro962Ala)
c.2983C>G (p.Pro995Ala)
c.2527+2365C>G (n.2527+2365C>G)
2g.189005401C>TCA349844775COL3A1c.2884C>T (p.Pro962Ser)
c.2983C>T (p.Pro995Ser)
c.2527+2365C>T (n.2527+2365C>T)
 ClinVar dbSNP gnomAD v4
2g.189005402C>ACA349844776COL3A1c.2885C>A (p.Pro962His)
c.2984C>A (p.Pro995His)
c.2527+2366C>A (n.2527+2366C>A)
2g.189005402C=CA1315403663COL3A1c.2885C= (p.Pro962=)
c.2984C= (p.Pro995=)
c.2527+2366C= (n.2527+2366C=)
2g.189005402C>GCA349844777COL3A1c.2885C>G (p.Pro962Arg)
c.2984C>G (p.Pro995Arg)
c.2527+2366C>G (n.2527+2366C>G)
2g.189005402C>TCA62558427COL3A1c.2885C>T (p.Pro962Leu)
c.2984C>T (p.Pro995Leu)
c.2527+2366C>T (n.2527+2366C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189005403T>ACA430312531COL3A1c.2886T>A (p.Pro962=)
c.2985T>A (p.Pro995=)
c.2527+2367T>A (n.2527+2367T>A)
2g.189005403T>CCA430312532COL3A1c.2886T>C (p.Pro962=)
c.2985T>C (p.Pro995=)
c.2527+2367T>C (n.2527+2367T>C)
2g.189005403T>GCA430312533COL3A1c.2886T>G (p.Pro962=)
c.2985T>G (p.Pro995=)
c.2527+2367T>G (n.2527+2367T>G)
2g.189005404G>ACA349844778COL3A1c.2887G>A (p.Gly963Arg)
c.2986G>A (p.Gly996Arg)
c.2527+2368G>A (n.2527+2368G>A)
 ClinVar dbSNP COSMIC
2g.189005404G>CCA349844779COL3A1c.2887G>C (p.Gly963Arg)
c.2986G>C (p.Gly996Arg)
c.2527+2368G>C (n.2527+2368G>C)
2g.189005404G>TCA349844780COL3A1c.2887G>T (p.Gly963Ter)
c.2986G>T (p.Gly996Ter)
c.2527+2368G>T (n.2527+2368G>T)
2g.189005405G>ACA005922COL3A1c.2888G>A (p.Gly963Glu)
c.2987G>A (p.Gly996Glu)
c.2527+2369G>A (n.2527+2369G>A)
 ClinVar dbSNP
2g.189005405G>CCA349844781COL3A1c.2888G>C (p.Gly963Ala)
c.2987G>C (p.Gly996Ala)
c.2527+2369G>C (n.2527+2369G>C)
2g.189005405G=CA1315403664COL3A1c.2888G= (p.Gly963=)
c.2987G= (p.Gly996=)
c.2527+2369G= (n.2527+2369G=)
2g.189005405G>TCA349844782COL3A1c.2888G>T (p.Gly963Val)
c.2987G>T (p.Gly996Val)
c.2527+2369G>T (n.2527+2369G>T)
 COSMIC
2g.189005406A>CCA430312535COL3A1c.2889A>C (p.Gly963=)
c.2988A>C (p.Gly996=)
c.2527+2370A>C (n.2527+2370A>C)
2g.189005406A>GCA430312538COL3A1c.2889A>G (p.Gly963=)
c.2988A>G (p.Gly996=)
c.2527+2370A>G (n.2527+2370A>G)
 gnomAD v4
2g.189005406A>TCA430312539COL3A1c.2889A>T (p.Gly963=)
c.2988A>T (p.Gly996=)
c.2527+2370A>T (n.2527+2370A>T)
2g.189005407C>ACA349844783COL3A1c.2890C>A (p.Pro964Thr)
c.2989C>A (p.Pro997Thr)
c.2527+2371C>A (n.2527+2371C>A)
2g.189005407C=CA1315403665COL3A1c.2890C= (p.Pro964=)
c.2989C= (p.Pro997=)
c.2527+2371C= (n.2527+2371C=)
2g.189005407C>GCA349844784COL3A1c.2890C>G (p.Pro964Ala)
c.2989C>G (p.Pro997Ala)
c.2527+2371C>G (n.2527+2371C>G)
2g.189005407C>TCA16610555COL3A1c.2890C>T (p.Pro964Ser)
c.2989C>T (p.Pro997Ser)
c.2527+2371C>T (n.2527+2371C>T)
 ClinVar dbSNP
2g.189005408C>ACA349844785COL3A1c.2891C>A (p.Pro964His)
c.2990C>A (p.Pro997His)
c.2527+2372C>A (n.2527+2372C>A)
2g.189005408C>GCA349844787COL3A1c.2891C>G (p.Pro964Arg)
c.2990C>G (p.Pro997Arg)
c.2527+2372C>G (n.2527+2372C>G)
2g.189005408C>TCA349844786COL3A1c.2891C>T (p.Pro964Leu)
c.2990C>T (p.Pro997Leu)
c.2527+2372C>T (n.2527+2372C>T)
 gnomAD v4
2g.189005409C>ACA430312543COL3A1c.2892C>A (p.Pro964=)
c.2991C>A (p.Pro997=)
c.2527+2373C>A (n.2527+2373C>A)
2g.189005409C=CA1315403666COL3A1c.2892C= (p.Pro964=)
c.2991C= (p.Pro997=)
c.2527+2373C= (n.2527+2373C=)
2g.189005409C>GCA430312544COL3A1c.2892C>G (p.Pro964=)
c.2991C>G (p.Pro997=)
c.2527+2373C>G (n.2527+2373C>G)
2g.189005409C>TCA075767COL3A1c.2892C>T (p.Pro964=)
c.2991C>T (p.Pro997=)
c.2527+2373C>T (n.2527+2373C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189005410C>ACA349844788COL3A1c.2893C>A (p.Gln965Lys)
c.2992C>A (p.Gln998Lys)
c.2527+2374C>A (n.2527+2374C>A)
2g.189005410C=CA1315403667COL3A1c.2893C= (p.Gln965=)
c.2992C= (p.Gln998=)
c.2527+2374C= (n.2527+2374C=)
2g.189005410C>GCA349844789COL3A1c.2893C>G (p.Gln965Glu)
c.2992C>G (p.Gln998Glu)
c.2527+2374C>G (n.2527+2374C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189005410C>TCA349844790COL3A1c.2893C>T (p.Gln965Ter)
c.2992C>T (p.Gln998Ter)
c.2527+2374C>T (n.2527+2374C>T)
2g.189005411A=CA1315403668COL3A1c.2894A= (p.Gln965=)
c.2993A= (p.Gln998=)
c.2527+2375A= (n.2527+2375A=)
2g.189005411A>CCA349844791COL3A1c.2894A>C (p.Gln965Pro)
c.2993A>C (p.Gln998Pro)
c.2527+2375A>C (n.2527+2375A>C)
 gnomAD v4
2g.189005411A>GCA349844792COL3A1c.2894A>G (p.Gln965Arg)
c.2993A>G (p.Gln998Arg)
c.2527+2375A>G (n.2527+2375A>G)
 ClinVar dbSNP
2g.189005411A>TCA62558451COL3A1c.2894A>T (p.Gln965Leu)
c.2993A>T (p.Gln998Leu)
c.2527+2375A>T (n.2527+2375A>T)
 ClinVar dbSNP
2g.189005412G>ACA430312549COL3A1c.2895G>A (p.Gln965=)
c.2994G>A (p.Gln998=)
c.2527+2376G>A (n.2527+2376G>A)
2g.189005412G>CCA349844793COL3A1c.2895G>C (p.Gln965His)
c.2994G>C (p.Gln998His)
c.2527+2376G>C (n.2527+2376G>C)
 gnomAD v4
2g.189005412G>TCA349844794COL3A1c.2895G>T (p.Gln965His)
c.2994G>T (p.Gln998His)
c.2527+2376G>T (n.2527+2376G>T)
2g.189005413G>ACA005929COL3A1c.2896G>A (p.Gly966Ser)
c.2995G>A (p.Gly999Ser)
c.2527+2377G>A (n.2527+2377G>A)
 ClinVar dbSNP
2g.189005413G>CCA005935COL3A1c.2896G>C (p.Gly966Arg)
c.2995G>C (p.Gly999Arg)
c.2527+2377G>C (n.2527+2377G>C)
 ClinVar dbSNP
2g.189005413G=CA1315403669COL3A1c.2896G= (p.Gly966=)
c.2995G= (p.Gly999=)
c.2527+2377G= (n.2527+2377G=)
2g.189005413G>TCA349844795COL3A1c.2896G>T (p.Gly966Cys)
c.2995G>T (p.Gly999Cys)
c.2527+2377G>T (n.2527+2377G>T)
 COSMIC
2g.189005414G>ACA349844796COL3A1c.2897G>A (p.Gly966Asp)
c.2996G>A (p.Gly999Asp)
c.2527+2378G>A (n.2527+2378G>A)
 ClinVar
2g.189005414G>CCA349844798COL3A1c.2897G>C (p.Gly966Ala)
c.2996G>C (p.Gly999Ala)
c.2527+2378G>C (n.2527+2378G>C)
2g.189005414G=CA1315403670COL3A1c.2897G= (p.Gly966=)
c.2996G= (p.Gly999=)
c.2527+2378G= (n.2527+2378G=)
2g.189005414G>TCA349844797COL3A1c.2897G>T (p.Gly966Val)
c.2996G>T (p.Gly999Val)
c.2527+2378G>T (n.2527+2378G>T)
 ClinVar dbSNP
2g.189005415T>ACA430312553COL3A1c.2898T>A (p.Gly966=)
c.2997T>A (p.Gly999=)
c.2527+2379T>A (n.2527+2379T>A)
2g.189005415T>CCA430312554COL3A1c.2898T>C (p.Gly966=)
c.2997T>C (p.Gly999=)
c.2527+2379T>C (n.2527+2379T>C)
2g.189005415T>GCA430312557COL3A1c.2898T>G (p.Gly966=)
c.2997T>G (p.Gly999=)
c.2527+2379T>G (n.2527+2379T>G)
2g.189005416C>ACA349844799COL3A1c.2899C>A (p.Leu967Ile)
c.2998C>A (p.Leu1000Ile)
c.2527+2380C>A (n.2527+2380C>A)
2g.189005416C>GCA349844800COL3A1c.2899C>G (p.Leu967Val)
c.2998C>G (p.Leu1000Val)
c.2527+2380C>G (n.2527+2380C>G)
2g.189005416C>TCA349844801COL3A1c.2899C>T (p.Leu967Phe)
c.2998C>T (p.Leu1000Phe)
c.2527+2380C>T (n.2527+2380C>T)
 gnomAD v4
2g.189005417T>ACA349844802COL3A1c.2900T>A (p.Leu967His)
c.2999T>A (p.Leu1000His)
c.2527+2381T>A (n.2527+2381T>A)
2g.189005417T>CCA349844803COL3A1c.2900T>C (p.Leu967Pro)
c.2999T>C (p.Leu1000Pro)
c.2527+2381T>C (n.2527+2381T>C)
2g.189005417T>GCA349844804COL3A1c.2900T>G (p.Leu967Arg)
c.2999T>G (p.Leu1000Arg)
c.2527+2381T>G (n.2527+2381T>G)
2g.189005418T>ACA430312559COL3A1c.2901T>A (p.Leu967=)
c.3000T>A (p.Leu1000=)
c.2527+2382T>A (n.2527+2382T>A)
2g.189005418T>CCA430312561COL3A1c.2901T>C (p.Leu967=)
c.3000T>C (p.Leu1000=)
c.2527+2382T>C (n.2527+2382T>C)
2g.189005418T>GCA430312564COL3A1c.2901T>G (p.Leu967=)
c.3000T>G (p.Leu1000=)
c.2527+2382T>G (n.2527+2382T>G)
2g.189005419C>ACA349844805COL3A1c.2902C>A (p.Pro968Thr)
c.3001C>A (p.Pro1001Thr)
c.2527+2383C>A (n.2527+2383C>A)
2g.189005419C=CA1315403671COL3A1c.2902C= (p.Pro968=)
c.3001C= (p.Pro1001=)
c.2527+2383C= (n.2527+2383C=)
2g.189005419C>GCA075771COL3A1c.2902C>G (p.Pro968Ala)
c.3001C>G (p.Pro1001Ala)
c.2527+2383C>G (n.2527+2383C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189005419C>TCA349844806COL3A1c.2902C>T (p.Pro968Ser)
c.3001C>T (p.Pro1001Ser)
c.2527+2383C>T (n.2527+2383C>T)
 ClinVar dbSNP COSMIC
2g.189005420C>ACA349844808COL3A1c.2903C>A (p.Pro968His)
c.3002C>A (p.Pro1001His)
c.2527+2384C>A (n.2527+2384C>A)
2g.189005420C>GCA349844809COL3A1c.2903C>G (p.Pro968Arg)
c.3002C>G (p.Pro1001Arg)
c.2527+2384C>G (n.2527+2384C>G)
2g.189005420C>TCA349844807COL3A1c.2903C>T (p.Pro968Leu)
c.3002C>T (p.Pro1001Leu)
c.2527+2384C>T (n.2527+2384C>T)
 gnomAD v4
2g.189005421T>ACA430312565COL3A1c.2904T>A (p.Pro968=)
c.3003T>A (p.Pro1001=)
c.2527+2385T>A (n.2527+2385T>A)
2g.189005421T>CCA430312566COL3A1c.2904T>C (p.Pro968=)
c.3003T>C (p.Pro1001=)
c.2527+2385T>C (n.2527+2385T>C)
2g.189005421T>GCA430312567COL3A1c.2904T>G (p.Pro968=)
c.3003T>G (p.Pro1001=)
c.2527+2385T>G (n.2527+2385T>G)
2g.189005422G>ACA349844810COL3A1c.2905G>A (p.Gly969Ser)
c.3004G>A (p.Gly1002Ser)
c.2527+2386G>A (n.2527+2386G>A)
2g.189005422G>CCA349844811COL3A1c.2905G>C (p.Gly969Arg)
c.3004G>C (p.Gly1002Arg)
c.2527+2386G>C (n.2527+2386G>C)
2g.189005422G>TCA349844812COL3A1c.2905G>T (p.Gly969Cys)
c.3004G>T (p.Gly1002Cys)
c.2527+2386G>T (n.2527+2386G>T)
2g.189005423G>ACA349844813COL3A1c.2906G>A (p.Gly969Asp)
c.3005G>A (p.Gly1002Asp)
c.2527+2387G>A (n.2527+2387G>A)
2g.189005423G>CCA349844814COL3A1c.2906G>C (p.Gly969Ala)
c.3005G>C (p.Gly1002Ala)
c.2527+2387G>C (n.2527+2387G>C)
2g.189005423G>TCA349844815COL3A1c.2906G>T (p.Gly969Val)
c.3005G>T (p.Gly1002Val)
c.2527+2387G>T (n.2527+2387G>T)
2g.189005424T>ACA430312576COL3A1c.2907T>A (p.Gly969=)
c.3006T>A (p.Gly1002=)
c.2527+2388T>A (n.2527+2388T>A)
2g.189005424T>CCA430312577COL3A1c.2907T>C (p.Gly969=)
c.3006T>C (p.Gly1002=)
c.2527+2388T>C (n.2527+2388T>C)
 ClinVar
2g.189005424T>GCA430312575COL3A1c.2907T>G (p.Gly969=)
c.3006T>G (p.Gly1002=)
c.2527+2388T>G (n.2527+2388T>G)
2g.189005425C>ACA349844816COL3A1c.2908C>A (p.Leu970Met)
c.3007C>A (p.Leu1003Met)
c.2527+2389C>A (n.2527+2389C>A)
2g.189005425C=CA1315403672COL3A1c.2908C= (p.Leu970=)
c.3007C= (p.Leu1003=)
c.2527+2389C= (n.2527+2389C=)
2g.189005425C>GCA62558465COL3A1c.2908C>G (p.Leu970Val)
c.3007C>G (p.Leu1003Val)
c.2527+2389C>G (n.2527+2389C>G)
 dbSNP
2g.189005425C>TCA62558474COL3A1c.2908C>T (p.Leu970=)
c.3007C>T (p.Leu1003=)
c.2527+2389C>T (n.2527+2389C>T)
 ClinVar dbSNP gnomAD v4
2g.189005426T>ACA349844817COL3A1c.2909T>A (p.Leu970Gln)
c.3008T>A (p.Leu1003Gln)
c.2527+2390T>A (n.2527+2390T>A)
2g.189005426T>CCA349844818COL3A1c.2909T>C (p.Leu970Pro)
c.3008T>C (p.Leu1003Pro)
c.2527+2390T>C (n.2527+2390T>C)
 ClinVar dbSNP
2g.189005426T>GCA349844819COL3A1c.2909T>G (p.Leu970Arg)
c.3008T>G (p.Leu1003Arg)
c.2527+2390T>G (n.2527+2390T>G)
2g.189005426T=CA1315403673COL3A1c.2909T= (p.Leu970=)
c.3008T= (p.Leu1003=)
c.2527+2390T= (n.2527+2390T=)
2g.189005427G>ACA430312580COL3A1c.2910G>A (p.Leu970=)
c.3009G>A (p.Leu1003=)
c.2527+2391G>A (n.2527+2391G>A)
 ClinVar
2g.189005427G>CCA430312579COL3A1c.2910G>C (p.Leu970=)
c.3009G>C (p.Leu1003=)
c.2527+2391G>C (n.2527+2391G>C)
2g.189005427G=CA1315403674COL3A1c.2910G= (p.Leu970=)
c.3009G= (p.Leu1003=)
c.2527+2391G= (n.2527+2391G=)
2g.189005427G>TCA075773COL3A1c.2910G>T (p.Leu970=)
c.3009G>T (p.Leu1003=)
c.2527+2391G>T (n.2527+2391G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched