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.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)

Number of alleles fetched