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.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
2g.189005428G>ACA349844821COL3A1c.2911G>A (p.Ala971Thr)
c.3010G>A (p.Ala1004Thr)
c.2527+2392G>A (n.2527+2392G>A)
2g.189005428G>CCA349844820COL3A1c.2911G>C (p.Ala971Pro)
c.3010G>C (p.Ala1004Pro)
c.2527+2392G>C (n.2527+2392G>C)
2g.189005428G=CA1315403675COL3A1c.2911G= (p.Ala971=)
c.3010G= (p.Ala1004=)
c.2527+2392G= (n.2527+2392G=)
2g.189005428G>TCA075776COL3A1c.2911G>T (p.Ala971Ser)
c.3010G>T (p.Ala1004Ser)
c.2527+2392G>T (n.2527+2392G>T)
 ClinVar dbSNP ExAC gnomAD v2
2g.189005429C>ACA349844822COL3A1c.2912C>A (p.Ala971Asp)
c.3011C>A (p.Ala1004Asp)
c.2527+2393C>A (n.2527+2393C>A)
2g.189005429C>GCA349844823COL3A1c.2912C>G (p.Ala971Gly)
c.3011C>G (p.Ala1004Gly)
c.2527+2393C>G (n.2527+2393C>G)
2g.189005429C>TCA349844824COL3A1c.2912C>T (p.Ala971Val)
c.3011C>T (p.Ala1004Val)
c.2527+2393C>T (n.2527+2393C>T)
2g.189005430T>ACA430312593COL3A1c.2913T>A (p.Ala971=)
c.3012T>A (p.Ala1004=)
c.2527+2394T>A (n.2527+2394T>A)
2g.189005430T>CCA430312586COL3A1c.2913T>C (p.Ala971=)
c.3012T>C (p.Ala1004=)
c.2527+2394T>C (n.2527+2394T>C)
2g.189005430T>GCA430312587COL3A1c.2913T>G (p.Ala971=)
c.3012T>G (p.Ala1004=)
c.2527+2394T>G (n.2527+2394T>G)
2g.189005431G>ACA349844825COL3A1c.2914G>A (p.Gly972Ser)
c.3013G>A (p.Gly1005Ser)
c.2527+2395G>A (n.2527+2395G>A)
2g.189005431G>CCA349844826COL3A1c.2914G>C (p.Gly972Arg)
c.3013G>C (p.Gly1005Arg)
c.2527+2395G>C (n.2527+2395G>C)
2g.189005431G>TCA349844827COL3A1c.2914G>T (p.Gly972Cys)
c.3013G>T (p.Gly1005Cys)
c.2527+2395G>T (n.2527+2395G>T)
2g.189005432G>ACA349844828COL3A1c.2915G>A (p.Gly972Asp)
c.3014G>A (p.Gly1005Asp)
c.2527+2396G>A (n.2527+2396G>A)
2g.189005432G>CCA349844829COL3A1c.2915G>C (p.Gly972Ala)
c.3014G>C (p.Gly1005Ala)
c.2527+2396G>C (n.2527+2396G>C)
 ClinVar
2g.189005432G>TCA349844830COL3A1c.2915G>T (p.Gly972Val)
c.3014G>T (p.Gly1005Val)
c.2527+2396G>T (n.2527+2396G>T)
2g.189005433T>ACA430312594COL3A1c.2916T>A (p.Gly972=)
c.3015T>A (p.Gly1005=)
c.2527+2397T>A (n.2527+2397T>A)
2g.189005433T>CCA430312596COL3A1c.2916T>C (p.Gly972=)
c.3015T>C (p.Gly1005=)
c.2527+2397T>C (n.2527+2397T>C)
2g.189005433T>GCA430312598COL3A1c.2916T>G (p.Gly972=)
c.3015T>G (p.Gly1005=)
c.2527+2397T>G (n.2527+2397T>G)
2g.189005434A=CA1315403676COL3A1c.2917A= (p.Thr973=)
c.3016A= (p.Thr1006=)
c.2527+2398A= (n.2527+2398A=)
2g.189005434A>CCA349844831COL3A1c.2917A>C (p.Thr973Pro)
c.3016A>C (p.Thr1006Pro)
c.2527+2398A>C (n.2527+2398A>C)
2g.189005434A>GCA349844832COL3A1c.2917A>G (p.Thr973Ala)
c.3016A>G (p.Thr1006Ala)
c.2527+2398A>G (n.2527+2398A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189005434A>TCA349844833COL3A1c.2917A>T (p.Thr973Ser)
c.3016A>T (p.Thr1006Ser)
c.2527+2398A>T (n.2527+2398A>T)
2g.189005435C>ACA349844836COL3A1c.2918C>A (p.Thr973Lys)
c.3017C>A (p.Thr1006Lys)
c.2527+2399C>A (n.2527+2399C>A)
2g.189005435C>GCA349844835COL3A1c.2918C>G (p.Thr973Arg)
c.3017C>G (p.Thr1006Arg)
c.2527+2399C>G (n.2527+2399C>G)
2g.189005435C>TCA349844834COL3A1c.2918C>T (p.Thr973Ile)
c.3017C>T (p.Thr1006Ile)
c.2527+2399C>T (n.2527+2399C>T)
 gnomAD v4
2g.189005436A>CCA430312607COL3A1c.2919A>C (p.Thr973=)
c.3018A>C (p.Thr1006=)
c.2527+2400A>C (n.2527+2400A>C)
2g.189005436A>GCA430312608COL3A1c.2919A>G (p.Thr973=)
c.3018A>G (p.Thr1006=)
c.2527+2400A>G (n.2527+2400A>G)
2g.189005436A>TCA430312609COL3A1c.2919A>T (p.Thr973=)
c.3018A>T (p.Thr1006=)
c.2527+2400A>T (n.2527+2400A>T)
 gnomAD v4 COSMIC
2g.189005437G>ACA005942COL3A1c.2920G>A (p.Ala974Thr)
c.3019G>A (p.Ala1007Thr)
c.2527+2401G>A (n.2527+2401G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189005437G>CCA349844838COL3A1c.2920G>C (p.Ala974Pro)
c.3019G>C (p.Ala1007Pro)
c.2527+2401G>C (n.2527+2401G>C)
2g.189005437G=CA1315403677COL3A1c.2920G= (p.Ala974=)
c.3019G= (p.Ala1007=)
c.2527+2401G= (n.2527+2401G=)
2g.189005437G>TCA349844837COL3A1c.2920G>T (p.Ala974Ser)
c.3019G>T (p.Ala1007Ser)
c.2527+2401G>T (n.2527+2401G>T)
2g.189005438C>ACA349844839COL3A1c.2921C>A (p.Ala974Asp)
c.3020C>A (p.Ala1007Asp)
c.2527+2402C>A (n.2527+2402C>A)
2g.189005438C>GCA349844841COL3A1c.2921C>G (p.Ala974Gly)
c.3020C>G (p.Ala1007Gly)
c.2527+2402C>G (n.2527+2402C>G)
2g.189005438C>TCA349844840COL3A1c.2921C>T (p.Ala974Val)
c.3020C>T (p.Ala1007Val)
c.2527+2402C>T (n.2527+2402C>T)
 gnomAD v4
2g.189005439T>ACA430312616COL3A1c.2922T>A (p.Ala974=)
c.3021T>A (p.Ala1007=)
c.2527+2403T>A (n.2527+2403T>A)
2g.189005439T>CCA430312617COL3A1c.2922T>C (p.Ala974=)
c.3021T>C (p.Ala1007=)
c.2527+2403T>C (n.2527+2403T>C)
2g.189005439T>GCA430312618COL3A1c.2922T>G (p.Ala974=)
c.3021T>G (p.Ala1007=)
c.2527+2403T>G (n.2527+2403T>G)
2g.189005440G>ACA349844842COL3A1c.2923G>A (p.Gly975Ser)
c.3022G>A (p.Gly1008Ser)
c.2527+2404G>A (n.2527+2404G>A)
2g.189005440G>CCA349844843COL3A1c.2923G>C (p.Gly975Arg)
c.3022G>C (p.Gly1008Arg)
c.2527+2404G>C (n.2527+2404G>C)
2g.189005440G>TCA349844844COL3A1c.2923G>T (p.Gly975Cys)
c.3022G>T (p.Gly1008Cys)
c.2527+2404G>T (n.2527+2404G>T)
2g.189005441G>ACA005947COL3A1c.2924G>A (p.Gly975Asp)
c.3023G>A (p.Gly1008Asp)
c.2527+2405G>A (n.2527+2405G>A)
 ClinVar dbSNP COSMIC
2g.189005441G>CCA349844845COL3A1c.2924G>C (p.Gly975Ala)
c.3023G>C (p.Gly1008Ala)
c.2527+2405G>C (n.2527+2405G>C)
2g.189005441G=CA1315403678COL3A1c.2924G= (p.Gly975=)
c.3023G= (p.Gly1008=)
c.2527+2405G= (n.2527+2405G=)
2g.189005441G>TCA349844846COL3A1c.2924G>T (p.Gly975Val)
c.3023G>T (p.Gly1008Val)
c.2527+2405G>T (n.2527+2405G>T)
2g.189005442T>ACA430312623COL3A1c.2925T>A (p.Gly975=)
c.3024T>A (p.Gly1008=)
c.2527+2406T>A (n.2527+2406T>A)
2g.189005442T>CCA430312624COL3A1c.2925T>C (p.Gly975=)
c.3024T>C (p.Gly1008=)
c.2527+2406T>C (n.2527+2406T>C)
2g.189005442T>GCA430312625COL3A1c.2925T>G (p.Gly975=)
c.3024T>G (p.Gly1008=)
c.2527+2406T>G (n.2527+2406T>G)
2g.189005443G>ACA349844847COL3A1c.2926G>A (p.Glu976Lys)
c.3025G>A (p.Glu1009Lys)
c.2527+2407G>A (n.2527+2407G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189005443G>CCA349844848COL3A1c.2926G>C (p.Glu976Gln)
c.3025G>C (p.Glu1009Gln)
c.2527+2407G>C (n.2527+2407G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189005443G=CA1315403679COL3A1c.2926G= (p.Glu976=)
c.3025G= (p.Glu1009=)
c.2527+2407G= (n.2527+2407G=)
2g.189005443G>TCA349844849COL3A1c.2926G>T (p.Glu976Ter)
c.3025G>T (p.Glu1009Ter)
c.2527+2407G>T (n.2527+2407G>T)
 ClinVar
2g.189005444A>CCA349844850COL3A1c.2927A>C (p.Glu976Ala)
c.3026A>C (p.Glu1009Ala)
c.2527+2408A>C (n.2527+2408A>C)
2g.189005444A>GCA349844851COL3A1c.2927A>G (p.Glu976Gly)
c.3026A>G (p.Glu1009Gly)
c.2527+2408A>G (n.2527+2408A>G)
2g.189005444A>TCA349844852COL3A1c.2927A>T (p.Glu976Val)
c.3026A>T (p.Glu1009Val)
c.2527+2408A>T (n.2527+2408A>T)
2g.189005445A=CA1315403680COL3A1c.2928A= (p.Glu976=)
c.3027A= (p.Glu1009=)
c.2527+2409A= (n.2527+2409A=)
2g.189005445A>CCA349844854COL3A1c.2928A>C (p.Glu976Asp)
c.3027A>C (p.Glu1009Asp)
c.2527+2409A>C (n.2527+2409A>C)
 COSMIC
2g.189005445A>GCA430312632COL3A1c.2928A>G (p.Glu976=)
c.3027A>G (p.Glu1009=)
c.2527+2409A>G (n.2527+2409A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189005445A>TCA349844853COL3A1c.2928A>T (p.Glu976Asp)
c.3027A>T (p.Glu1009Asp)
c.2527+2409A>T (n.2527+2409A>T)
 gnomAD v4
2g.189005446C>ACA349844855COL3A1c.2929C>A (p.Pro977Thr)
c.3028C>A (p.Pro1010Thr)
c.2527+2410C>A (n.2527+2410C>A)
2g.189005446C>GCA349844856COL3A1c.2929C>G (p.Pro977Ala)
c.3028C>G (p.Pro1010Ala)
c.2527+2410C>G (n.2527+2410C>G)
2g.189005446C>TCA349844857COL3A1c.2929C>T (p.Pro977Ser)
c.3028C>T (p.Pro1010Ser)
c.2527+2410C>T (n.2527+2410C>T)
 ClinVar
2g.189005447C>ACA349844858COL3A1c.2930C>A (p.Pro977His)
c.3029C>A (p.Pro1010His)
c.2527+2411C>A (n.2527+2411C>A)
2g.189005447C>GCA349844859COL3A1c.2930C>G (p.Pro977Arg)
c.3029C>G (p.Pro1010Arg)
c.2527+2411C>G (n.2527+2411C>G)
2g.189005447C>TCA349844860COL3A1c.2930C>T (p.Pro977Leu)
c.3029C>T (p.Pro1010Leu)
c.2527+2411C>T (n.2527+2411C>T)
 COSMIC
2g.189005448T>ACA430312639COL3A1c.2931T>A (p.Pro977=)
c.3030T>A (p.Pro1010=)
c.2527+2412T>A (n.2527+2412T>A)
2g.189005448T>CCA430312636COL3A1c.2931T>C (p.Pro977=)
c.3030T>C (p.Pro1010=)
c.2527+2412T>C (n.2527+2412T>C)
 dbSNP
2g.189005448T>GCA430312637COL3A1c.2931T>G (p.Pro977=)
c.3030T>G (p.Pro1010=)
c.2527+2412T>G (n.2527+2412T>G)
2g.189005448T=CA1315403681COL3A1c.2931T= (p.Pro977=)
c.3030T= (p.Pro1010=)
c.2527+2412T= (n.2527+2412T=)
2g.189005449G>ACA349844861COL3A1c.2932G>A (p.Gly978Arg)
c.3031G>A (p.Gly1011Arg)
c.2527+2413G>A (n.2527+2413G>A)
2g.189005449G>CCA349844862COL3A1c.2932G>C (p.Gly978Arg)
c.3031G>C (p.Gly1011Arg)
c.2527+2413G>C (n.2527+2413G>C)
2g.189005449G>TCA349844863COL3A1c.2932G>T (p.Gly978Ter)
c.3031G>T (p.Gly1011Ter)
c.2527+2413G>T (n.2527+2413G>T)
2g.189005450G>ACA005953COL3A1c.2933G>A (p.Gly978Glu)
c.3032G>A (p.Gly1011Glu)
c.2527+2414G>A (n.2527+2414G>A)
 ClinVar dbSNP
2g.189005450G>CCA349844864COL3A1c.2933G>C (p.Gly978Ala)
c.3032G>C (p.Gly1011Ala)
c.2527+2414G>C (n.2527+2414G>C)
2g.189005450G=CA1315403682COL3A1c.2933G= (p.Gly978=)
c.3032G= (p.Gly1011=)
c.2527+2414G= (n.2527+2414G=)
2g.189005450G>TCA349844865COL3A1c.2933G>T (p.Gly978Val)
c.3032G>T (p.Gly1011Val)
c.2527+2414G>T (n.2527+2414G>T)
2g.189005451A>CCA430312649COL3A1c.2934A>C (p.Gly978=)
c.3033A>C (p.Gly1011=)
c.2527+2415A>C (n.2527+2415A>C)
2g.189005451A>GCA430312652COL3A1c.2934A>G (p.Gly978=)
c.3033A>G (p.Gly1011=)
c.2527+2415A>G (n.2527+2415A>G)
2g.189005451A>TCA430312651COL3A1c.2934A>T (p.Gly978=)
c.3033A>T (p.Gly1011=)
c.2527+2415A>T (n.2527+2415A>T)
2g.189005452delCA2662310249COL3A1c.2935del (p.Arg979GlufsTer?)
c.3034del (p.Arg1012GlufsTer?)
c.2527+2416del (n.2527+2416del)
 gnomAD v4
2g.189005452A>CCA430312653COL3A1c.2935A>C (p.Arg979=)
c.3034A>C (p.Arg1012=)
c.2527+2416A>C (n.2527+2416A>C)
2g.189005452A>GCA349844867COL3A1c.2935A>G (p.Arg979Gly)
c.3034A>G (p.Arg1012Gly)
c.2527+2416A>G (n.2527+2416A>G)
2g.189005452A>TCA349844866COL3A1c.2935A>T (p.Arg979Ter)
c.3034A>T (p.Arg1012Ter)
c.2527+2416A>T (n.2527+2416A>T)
2g.189005453G>ACA62558501COL3A1c.2936G>A (p.Arg979Lys)
c.3035G>A (p.Arg1012Lys)
c.2527+2417G>A (n.2527+2417G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189005453G>CCA349844868COL3A1c.2936G>C (p.Arg979Thr)
c.3035G>C (p.Arg1012Thr)
c.2527+2417G>C (n.2527+2417G>C)
2g.189005453G=CA1315403683COL3A1c.2936G= (p.Arg979=)
c.3035G= (p.Arg1012=)
c.2527+2417G= (n.2527+2417G=)
2g.189005453G>TCA349844869COL3A1c.2936G>T (p.Arg979Ile)
c.3035G>T (p.Arg1012Ile)
c.2527+2417G>T (n.2527+2417G>T)
2g.189005454A>CCA349844870COL3A1c.2937A>C (p.Arg979Ser)
c.3036A>C (p.Arg1012Ser)
c.2527+2418A>C (n.2527+2418A>C)
2g.189005454A>GCA430312658COL3A1c.2937A>G (p.Arg979=)
c.3036A>G (p.Arg1012=)
c.2527+2418A>G (n.2527+2418A>G)
2g.189005454A>TCA349844871COL3A1c.2937A>T (p.Arg979Ser)
c.3036A>T (p.Arg1012Ser)
c.2527+2418A>T (n.2527+2418A>T)
2g.189005455G>ACA349844872COL3A1c.2938G>A (p.Asp980Asn)
c.3037G>A (p.Asp1013Asn)
c.2527+2419G>A (n.2527+2419G>A)
2g.189005455G>CCA349844873COL3A1c.2938G>C (p.Asp980His)
c.3037G>C (p.Asp1013His)
c.2527+2419G>C (n.2527+2419G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189005455G=CA1315403684COL3A1c.2938G= (p.Asp980=)
c.3037G= (p.Asp1013=)
c.2527+2419G= (n.2527+2419G=)
2g.189005455G>TCA349844874COL3A1c.2938G>T (p.Asp980Tyr)
c.3037G>T (p.Asp1013Tyr)
c.2527+2419G>T (n.2527+2419G>T)
2g.189005456A>CCA349844875COL3A1c.2939A>C (p.Asp980Ala)
c.3038A>C (p.Asp1013Ala)
c.2527+2420A>C (n.2527+2420A>C)
2g.189005456A>GCA349844876COL3A1c.2939A>G (p.Asp980Gly)
c.3038A>G (p.Asp1013Gly)
c.2527+2420A>G (n.2527+2420A>G)
2g.189005456A>TCA349844877COL3A1c.2939A>T (p.Asp980Val)
c.3038A>T (p.Asp1013Val)
c.2527+2420A>T (n.2527+2420A>T)
2g.189005457T>ACA349844878COL3A1c.2940T>A (p.Asp980Glu)
c.3039T>A (p.Asp1013Glu)
c.2527+2421T>A (n.2527+2421T>A)
 gnomAD v4
2g.189005457T>CCA62558504COL3A1c.2940T>C (p.Asp980=)
c.3039T>C (p.Asp1013=)
c.2527+2421T>C (n.2527+2421T>C)
 dbSNP gnomAD v4
2g.189005457T>GCA349844879COL3A1c.2940T>G (p.Asp980Glu)
c.3039T>G (p.Asp1013Glu)
c.2527+2421T>G (n.2527+2421T>G)
2g.189005457T=CA1315403685COL3A1c.2940T= (p.Asp980=)
c.3039T= (p.Asp1013=)
c.2527+2421T= (n.2527+2421T=)
2g.189005459_189005460delCA2577185847COL3A1c.2940+2_2940+3del
c.3039+2_3039+3del
c.2527+2423_2527+2424del (n.2527+2423_2527+2424del)
2g.189005458G>ACA005968COL3A1c.2940+1G>A (n.2940+1G>A)
c.3039+1G>A (n.3039+1G>A)
c.2527+2422G>A (n.2527+2422G>A)
 ClinVar dbSNP
2g.189005458G>CCA349844880COL3A1c.2940+1G>C (n.2940+1G>C)
c.3039+1G>C (n.3039+1G>C)
c.2527+2422G>C (n.2527+2422G>C)
2g.189005458G=CA1315403686COL3A1c.2940+1G= (n.2940+1G=)
c.3039+1G= (n.3039+1G=)
c.2527+2422G= (n.2527+2422G=)
2g.189005458G>TCA349844881COL3A1c.2940+1G>T (n.2940+1G>T)
c.3039+1G>T (n.3039+1G>T)
c.2527+2422G>T (n.2527+2422G>T)
2g.189005458_189005459insGAAACCCCA2753571941COL3A1c.2940+1_2940+2insGAAACCC (n.2940+1_2940+2insGAAACCC)
c.3039+1_3039+2insGAAACCC (n.3039+1_3039+2insGAAACCC)
c.2527+2422_2527+2423insGAAACCC (n.2527+2422_2527+2423insGAAACCC)
2g.189005458_189005459insGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTCCA2753571942COL3A1c.2940+1_2940+2insGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTC (n.2940+1_2940+2insGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTC)
c.3039+1_3039+2insGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTC (n.3039+1_3039+2insGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTC)
c.2527+2422_2527+2423insGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTC (n.2527+2422_2527+2423insGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTC)
2g.189005459T>ACA349844882COL3A1c.2940+2T>A (n.2940+2T>A)
c.3039+2T>A (n.3039+2T>A)
c.2527+2423T>A (n.2527+2423T>A)
2g.189005459T>CCA349844883COL3A1c.2940+2T>C (n.2940+2T>C)
c.3039+2T>C (n.3039+2T>C)
c.2527+2423T>C (n.2527+2423T>C)
2g.189005459T>GCA349844884COL3A1c.2940+2T>G (n.2940+2T>G)
c.3039+2T>G (n.3039+2T>G)
c.2527+2423T>G (n.2527+2423T>G)
2g.189005460G>ACA762205572COL3A1c.2940+3G>A (n.2940+3G>A)
c.3039+3G>A (n.3039+3G>A)
c.2527+2424G>A (n.2527+2424G>A)
 dbSNP
2g.189005460G=CA1315403687COL3A1c.2940+3G= (n.2940+3G=)
c.3039+3G= (n.3039+3G=)
c.2527+2424G= (n.2527+2424G=)
2g.189005460_189005461insGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTCCA2753571943COL3A1c.2940+3_2940+4insGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTC (n.2940+3_2940+4insGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTC)
c.3039+3_3039+4insGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTC (n.3039+3_3039+4insGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTC)
c.2527+2424_2527+2425insGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTC (n.2527+2424_2527+2425insGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTC)
2g.189005462G>ACA005974COL3A1c.2940+5G>A (n.2940+5G>A)
c.3039+5G>A (n.3039+5G>A)
c.2527+2426G>A (n.2527+2426G>A)
 ClinVar dbSNP
2g.189005462G>CCA2586965514COL3A1c.2940+5G>C (n.2940+5G>C)
c.3039+5G>C (n.3039+5G>C)
c.2527+2426G>C (n.2527+2426G>C)
2g.189005462G=CA1315403688COL3A1c.2940+5G= (n.2940+5G=)
c.3039+5G= (n.3039+5G=)
c.2527+2426G= (n.2527+2426G=)
2g.189005463T>CCA005982COL3A1c.2940+6T>C (n.2940+6T>C)
c.3039+6T>C (n.3039+6T>C)
c.2527+2427T>C (n.2527+2427T>C)
 ClinVar dbSNP
2g.189005463T=CA1315403689COL3A1c.2940+6T= (n.2940+6T=)
c.3039+6T= (n.3039+6T=)
c.2527+2427T= (n.2527+2427T=)
2g.189005465G>ACA2580065375COL3A1c.2940+8G>A (n.2940+8G>A)
c.3039+8G>A (n.3039+8G>A)
c.2527+2429G>A (n.2527+2429G>A)
 ClinVar gnomAD v4
2g.189005466C>ACA075806COL3A1c.2940+9C>A (n.2940+9C>A)
c.3039+9C>A (n.3039+9C>A)
c.2527+2430C>A (n.2527+2430C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189005466C=CA1315403690COL3A1c.2940+9C= (n.2940+9C=)
c.3039+9C= (n.3039+9C=)
c.2527+2430C= (n.2527+2430C=)
2g.189005468_189005469delinsGTCA1315403691COL3A1c.2940+11_2940+12delinsGT (n.2940+11_2940+12delinsGT)
c.3039+11_3039+12delinsGT (n.3039+11_3039+12delinsGT)
c.2527+2432_2527+2433delinsGT (n.2527+2432_2527+2433delinsGT)
2g.189005469T>CCA762205582COL3A1c.2940+12T>C (n.2940+12T>C)
c.3039+12T>C (n.3039+12T>C)
c.2527+2433T>C (n.2527+2433T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.189005469T=CA1315403693COL3A1c.2940+12T= (n.2940+12T=)
c.3039+12T= (n.3039+12T=)
c.2527+2433T= (n.2527+2433T=)
2g.189005473delCA1315403692COL3A1c.2940+16del (n.2940+16del)
c.3039+16del (n.3039+16del)
c.2527+2437del (n.2527+2437del)
 dbSNP gnomAD v4
2g.189005473T>CCA2662310250COL3A1c.2940+16T>C (n.2940+16T>C)
c.3039+16T>C (n.3039+16T>C)
c.2527+2437T>C (n.2527+2437T>C)
 gnomAD v4
2g.189005473T>GCA005960COL3A1c.2940+16T>G (n.2940+16T>G)
c.3039+16T>G (n.3039+16T>G)
c.2527+2437T>G (n.2527+2437T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189005473T=CA1315403694COL3A1c.2940+16T= (n.2940+16T=)
c.3039+16T= (n.3039+16T=)
c.2527+2437T= (n.2527+2437T=)
2g.189005474A>CCA2662310251COL3A1c.2940+17A>C (n.2940+17A>C)
c.3039+17A>C (n.3039+17A>C)
c.2527+2438A>C (n.2527+2438A>C)
 gnomAD v4
2g.189005475T>CCA538448938COL3A1c.2940+18T>C (n.2940+18T>C)
c.3039+18T>C (n.3039+18T>C)
c.2527+2439T>C (n.2527+2439T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189005475T=CA1315403695COL3A1c.2940+18T= (n.2940+18T=)
c.3039+18T= (n.3039+18T=)
c.2527+2439T= (n.2527+2439T=)
2g.189005477C>ACA538448939COL3A1c.2940+20C>A (n.2940+20C>A)
c.3039+20C>A (n.3039+20C>A)
c.2527+2441C>A (n.2527+2441C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189005477C=CA1315403696COL3A1c.2940+20C= (n.2940+20C=)
c.3039+20C= (n.3039+20C=)
c.2527+2441C= (n.2527+2441C=)
2g.189005477C>TCA538448940COL3A1c.2940+20C>T (n.2940+20C>T)
c.3039+20C>T (n.3039+20C>T)
c.2527+2441C>T (n.2527+2441C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189005478A>TCA2662310252COL3A1c.2940+21A>T (n.2940+21A>T)
c.3039+21A>T (n.3039+21A>T)
c.2527+2442A>T (n.2527+2442A>T)
 gnomAD v4
2g.189005479A>GCA2753571944COL3A1c.2940+22A>G (n.2940+22A>G)
c.3039+22A>G (n.3039+22A>G)
c.2527+2443A>G (n.2527+2443A>G)
2g.189005480C>ACA2662310253COL3A1c.2940+23C>A (n.2940+23C>A)
c.3039+23C>A (n.3039+23C>A)
c.2527+2444C>A (n.2527+2444C>A)
 gnomAD v4
2g.189005480C=CA1315403697COL3A1c.2940+23C= (n.2940+23C=)
c.3039+23C= (n.3039+23C=)
c.2527+2444C= (n.2527+2444C=)
2g.189005480C>TCA075792COL3A1c.2940+23C>T (n.2940+23C>T)
c.3039+23C>T (n.3039+23C>T)
c.2527+2444C>T (n.2527+2444C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189005481C>ACA1315403698COL3A1c.2940+24C>A (n.2940+24C>A)
c.3039+24C>A (n.3039+24C>A)
c.2527+2445C>A (n.2527+2445C>A)
 dbSNP gnomAD v4
2g.189005481C=CA1315403699COL3A1c.2940+24C= (n.2940+24C=)
c.3039+24C= (n.3039+24C=)
c.2527+2445C= (n.2527+2445C=)
2g.189005481C>TCA075793COL3A1c.2940+24C>T (n.2940+24C>T)
c.3039+24C>T (n.3039+24C>T)
c.2527+2445C>T (n.2527+2445C>T)
 dbSNP ExAC
2g.189005482A=CA1315403700COL3A1c.2940+25A= (n.2940+25A=)
c.3039+25A= (n.3039+25A=)
c.2527+2446A= (n.2527+2446A=)
2g.189005482A>GCA1315403701COL3A1c.2940+25A>G (n.2940+25A>G)
c.3039+25A>G (n.3039+25A>G)
c.2527+2446A>G (n.2527+2446A>G)
 dbSNP
2g.189005482A>TCA2662310254COL3A1c.2940+25A>T (n.2940+25A>T)
c.3039+25A>T (n.3039+25A>T)
c.2527+2446A>T (n.2527+2446A>T)
 gnomAD v4
2g.189005484C>ACA2577185848COL3A1c.2940+27C>A (n.2940+27C>A)
c.3039+27C>A (n.3039+27C>A)
c.2527+2448C>A (n.2527+2448C>A)
 gnomAD v4
2g.189005484C=CA1315403702COL3A1c.2940+27C= (n.2940+27C=)
c.3039+27C= (n.3039+27C=)
c.2527+2448C= (n.2527+2448C=)
2g.189005484C>GCA075795COL3A1c.2940+27C>G (n.2940+27C>G)
c.3039+27C>G (n.3039+27C>G)
c.2527+2448C>G (n.2527+2448C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189005484C>TCA075797COL3A1c.2940+27C>T (n.2940+27C>T)
c.3039+27C>T (n.3039+27C>T)
c.2527+2448C>T (n.2527+2448C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189005485C=CA1315403703COL3A1c.2940+28C= (n.2940+28C=)
c.3039+28C= (n.3039+28C=)
c.2527+2449C= (n.2527+2449C=)
2g.189005485C>GCA538448941COL3A1c.2940+28C>G (n.2940+28C>G)
c.3039+28C>G (n.3039+28C>G)
c.2527+2449C>G (n.2527+2449C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189005486A=CA1315403704COL3A1c.2940+29A= (n.2940+29A=)
c.3039+29A= (n.3039+29A=)
c.2527+2450A= (n.2527+2450A=)
2g.189005486A>CCA2662310255COL3A1c.2940+29A>C (n.2940+29A>C)
c.3039+29A>C (n.3039+29A>C)
c.2527+2450A>C (n.2527+2450A>C)
 gnomAD v4
2g.189005486A>GCA1315403705COL3A1c.2940+29A>G (n.2940+29A>G)
c.3039+29A>G (n.3039+29A>G)
c.2527+2450A>G (n.2527+2450A>G)
 dbSNP gnomAD v4
2g.189005486A>TCA075799COL3A1c.2940+29A>T (n.2940+29A>T)
c.3039+29A>T (n.3039+29A>T)
c.2527+2450A>T (n.2527+2450A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189005487G>ACA1040412079COL3A1c.2940+30G>A (n.2940+30G>A)
c.3039+30G>A (n.3039+30G>A)
c.2527+2451G>A (n.2527+2451G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189005487G>CCA1315403707COL3A1c.2940+30G>C (n.2940+30G>C)
c.3039+30G>C (n.3039+30G>C)
c.2527+2451G>C (n.2527+2451G>C)
 dbSNP
2g.189005487G=CA1315403706COL3A1c.2940+30G= (n.2940+30G=)
c.3039+30G= (n.3039+30G=)
c.2527+2451G= (n.2527+2451G=)
2g.189005488G>CCA2662310256COL3A1c.2940+31G>C (n.2940+31G>C)
c.3039+31G>C (n.3039+31G>C)
c.2527+2452G>C (n.2527+2452G>C)
 gnomAD v4
2g.189005488G=CA1315403708COL3A1c.2940+31G= (n.2940+31G=)
c.3039+31G= (n.3039+31G=)
c.2527+2452G= (n.2527+2452G=)
2g.189005488G>TCA62558562COL3A1c.2940+31G>T (n.2940+31G>T)
c.3039+31G>T (n.3039+31G>T)
c.2527+2452G>T (n.2527+2452G>T)
 dbSNP
2g.189005490A=CA1315403709COL3A1c.2940+33A= (n.2940+33A=)
c.3039+33A= (n.3039+33A=)
c.2527+2454A= (n.2527+2454A=)
2g.189005490A>CCA2662310257COL3A1c.2940+33A>C (n.2940+33A>C)
c.3039+33A>C (n.3039+33A>C)
c.2527+2454A>C (n.2527+2454A>C)
 gnomAD v4
2g.189005490A>GCA075800COL3A1c.2940+33A>G (n.2940+33A>G)
c.3039+33A>G (n.3039+33A>G)
c.2527+2454A>G (n.2527+2454A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189005490A>TCA2662310258COL3A1c.2940+33A>T (n.2940+33A>T)
c.3039+33A>T (n.3039+33A>T)
c.2527+2454A>T (n.2527+2454A>T)
 gnomAD v4
2g.189005491G>ACA1040412082COL3A1c.2940+34G>A (n.2940+34G>A)
c.3039+34G>A (n.3039+34G>A)
c.2527+2455G>A (n.2527+2455G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189005491G=CA1315403710COL3A1c.2940+34G= (n.2940+34G=)
c.3039+34G= (n.3039+34G=)
c.2527+2455G= (n.2527+2455G=)
2g.189005492A>GCA2662310259COL3A1c.2940+35A>G (n.2940+35A>G)
c.3039+35A>G (n.3039+35A>G)
c.2527+2456A>G (n.2527+2456A>G)
 gnomAD v4
2g.189005494T>CCA2577185849COL3A1c.2940+37T>C (n.2940+37T>C)
c.3039+37T>C (n.3039+37T>C)
c.2527+2458T>C (n.2527+2458T>C)
2g.189005495_189005497delCA2662310260COL3A1c.2940+38_2940+40del (n.2940+38_2940+40del)
c.3039+38_3039+40del (n.3039+38_3039+40del)
c.2527+2459_2527+2461del (n.2527+2459_2527+2461del)
 gnomAD v4
2g.189005496T>CCA2662310261COL3A1c.2940+39T>C (n.2940+39T>C)
c.3039+39T>C (n.3039+39T>C)
c.2527+2460T>C (n.2527+2460T>C)
 gnomAD v4
2g.189005497G>TCA2662310262COL3A1c.2940+40G>T (n.2940+40G>T)
c.3039+40G>T (n.3039+40G>T)
c.2527+2461G>T (n.2527+2461G>T)
 gnomAD v4
2g.189005498A=CA1315403711COL3A1c.2940+41A= (n.2940+41A=)
c.3039+41A= (n.3039+41A=)
c.2527+2462A= (n.2527+2462A=)
2g.189005498A>GCA075802COL3A1c.2940+41A>G (n.2940+41A>G)
c.3039+41A>G (n.3039+41A>G)
c.2527+2462A>G (n.2527+2462A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189005499T>ACA2662310263COL3A1c.2940+42T>A (n.2940+42T>A)
c.3039+42T>A (n.3039+42T>A)
c.2527+2463T>A (n.2527+2463T>A)
 gnomAD v4
2g.189005499T>CCA1315403713COL3A1c.2940+42T>C (n.2940+42T>C)
c.3039+42T>C (n.3039+42T>C)
c.2527+2463T>C (n.2527+2463T>C)
 dbSNP
2g.189005499T=CA1315403712COL3A1c.2940+42T= (n.2940+42T=)
c.3039+42T= (n.3039+42T=)
c.2527+2463T= (n.2527+2463T=)
2g.189005501A>GCA2662310264COL3A1c.2940+44A>G (n.2940+44A>G)
c.3039+44A>G (n.3039+44A>G)
c.2527+2465A>G (n.2527+2465A>G)
 gnomAD v4
2g.189005502T>CCA2662310266COL3A1c.2940+45T>C (n.2940+45T>C)
c.3039+45T>C (n.3039+45T>C)
c.2527+2466T>C (n.2527+2466T>C)
 gnomAD v4
2g.189005504delCA2662310265COL3A1c.2940+47del (n.2940+47del)
c.3039+47del (n.3039+47del)
c.2527+2468del (n.2527+2468del)
 gnomAD v4
2g.189005503T>ACA075804COL3A1c.2940+46T>A (n.2940+46T>A)
c.3039+46T>A (n.3039+46T>A)
c.2527+2467T>A (n.2527+2467T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189005503T=CA1315403714COL3A1c.2940+46T= (n.2940+46T=)
c.3039+46T= (n.3039+46T=)
c.2527+2467T= (n.2527+2467T=)
2g.189005505A=CA1315403715COL3A1c.2940+48A= (n.2940+48A=)
c.3039+48A= (n.3039+48A=)
c.2527+2469A= (n.2527+2469A=)
2g.189005505A>GCA538448942COL3A1c.2940+48A>G (n.2940+48A>G)
c.3039+48A>G (n.3039+48A>G)
c.2527+2469A>G (n.2527+2469A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189005509C>ACA2662310267COL3A1c.2940+52C>A (n.2940+52C>A)
c.3039+52C>A (n.3039+52C>A)
c.2527+2473C>A (n.2527+2473C>A)
 gnomAD v4
2g.189005509C>GCA2662310268COL3A1c.2940+52C>G (n.2940+52C>G)
c.3039+52C>G (n.3039+52C>G)
c.2527+2473C>G (n.2527+2473C>G)
 gnomAD v4
2g.189005509C>TCA2577185850COL3A1c.2940+52C>T (n.2940+52C>T)
c.3039+52C>T (n.3039+52C>T)
c.2527+2473C>T (n.2527+2473C>T)
 gnomAD v4
2g.189005510A=CA1315403716COL3A1c.2940+53A= (n.2940+53A=)
c.3039+53A= (n.3039+53A=)
c.2527+2474A= (n.2527+2474A=)
2g.189005510A>GCA62558578COL3A1c.2940+53A>G (n.2940+53A>G)
c.3039+53A>G (n.3039+53A>G)
c.2527+2474A>G (n.2527+2474A>G)
 dbSNP gnomAD v4
2g.189005510_189005511insCCTTTCA2662310270COL3A1c.2940+53_2940+54insCCTTT (n.2940+53_2940+54insCCTTT)
c.3039+53_3039+54insCCTTT (n.3039+53_3039+54insCCTTT)
c.2527+2474_2527+2475insCCTTT (n.2527+2474_2527+2475insCCTTT)
 gnomAD v4
2g.189005511G>TCA2662310269COL3A1c.2940+54G>T (n.2940+54G>T)
c.3039+54G>T (n.3039+54G>T)
c.2527+2475G>T (n.2527+2475G>T)
 gnomAD v4
2g.189005512C>ACA2662310271COL3A1c.2940+55C>A (n.2940+55C>A)
c.3039+55C>A (n.3039+55C>A)
c.2527+2476C>A (n.2527+2476C>A)
 gnomAD v4
2g.189005512C=CA1315403717COL3A1c.2940+55C= (n.2940+55C=)
c.3039+55C= (n.3039+55C=)
c.2527+2476C= (n.2527+2476C=)
2g.189005512C>GCA2662310272COL3A1c.2940+55C>G (n.2940+55C>G)
c.3039+55C>G (n.3039+55C>G)
c.2527+2476C>G (n.2527+2476C>G)
 gnomAD v4
2g.189005512C>TCA762205623COL3A1c.2940+55C>T (n.2940+55C>T)
c.3039+55C>T (n.3039+55C>T)
c.2527+2476C>T (n.2527+2476C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189005512_189005513insTGCA2830535342COL3A1c.2940+55_2940+56insTG (n.2940+55_2940+56insTG)
c.3039+55_3039+56insTG (n.3039+55_3039+56insTG)
c.2527+2476_2527+2477insTG (n.2527+2476_2527+2477insTG)
2g.189005512_189005513insTGAAATCA2662310273COL3A1c.2940+55_2940+56insTGAAAT (n.2940+55_2940+56insTGAAAT)
c.3039+55_3039+56insTGAAAT (n.3039+55_3039+56insTGAAAT)
c.2527+2476_2527+2477insTGAAAT (n.2527+2476_2527+2477insTGAAAT)
 gnomAD v4
2g.189005513_189005517delCA2662310274COL3A1c.2940+56_2940+60del (n.2940+56_2940+60del)
c.3039+56_3039+60del (n.3039+56_3039+60del)
c.2527+2477_2527+2481del (n.2527+2477_2527+2481del)
 gnomAD v4
2g.189005514A>GCA2662310275COL3A1c.2940+57A>G (n.2940+57A>G)
c.3039+57A>G (n.3039+57A>G)
c.2527+2478A>G (n.2527+2478A>G)
 gnomAD v4
2g.189005516G>ACA2662310276COL3A1c.2940+59G>A (n.2940+59G>A)
c.3039+59G>A (n.3039+59G>A)
c.2527+2480G>A (n.2527+2480G>A)
 gnomAD v4
2g.189005516G>TCA2662310277COL3A1c.2940+59G>T (n.2940+59G>T)
c.3039+59G>T (n.3039+59G>T)
c.2527+2480G>T (n.2527+2480G>T)
 gnomAD v4
2g.189005516_189005517delCA2830535343COL3A1c.2940+59_2940+60del (n.2940+59_2940+60del)
c.3039+59_3039+60del (n.3039+59_3039+60del)
c.2527+2480_2527+2481del (n.2527+2480_2527+2481del)
2g.189005519delCA2830535344COL3A1c.2940+62del (n.2940+62del)
c.3039+62del (n.3039+62del)
c.2527+2483del (n.2527+2483del)
2g.189005519G>ACA2577185851COL3A1c.2940+62G>A (n.2940+62G>A)
c.3039+62G>A (n.3039+62G>A)
c.2527+2483G>A (n.2527+2483G>A)
 gnomAD v4
2g.189005520A=CA1315403718COL3A1c.2940+63A= (n.2940+63A=)
c.3039+63A= (n.3039+63A=)
c.2527+2484A= (n.2527+2484A=)
2g.189005520A>CCA15168657COL3A1c.2940+63A>C (n.2940+63A>C)
c.3039+63A>C (n.3039+63A>C)
c.2527+2484A>C (n.2527+2484A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189005520A>GCA2581840835COL3A1c.2940+63A>G (n.2940+63A>G)
c.3039+63A>G (n.3039+63A>G)
c.2527+2484A>G (n.2527+2484A>G)
2g.189005520A>TCA2581840834COL3A1c.2940+63A>T (n.2940+63A>T)
c.3039+63A>T (n.3039+63A>T)
c.2527+2484A>T (n.2527+2484A>T)

Number of alleles fetched