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.189004265A>CCA430312188COL3A1c.2733A>C (p.Pro911=)
c.2832A>C (p.Pro944=)
c.2527+1229A>C (n.2527+1229A>C)
2g.189004265A>GCA430312189COL3A1c.2733A>G (p.Pro911=)
c.2832A>G (p.Pro944=)
c.2527+1229A>G (n.2527+1229A>G)
 gnomAD v4
2g.189004265A>TCA430312190COL3A1c.2733A>T (p.Pro911=)
c.2832A>T (p.Pro944=)
c.2527+1229A>T (n.2527+1229A>T)
2g.189004266G>ACA005741COL3A1c.2734G>A (p.Gly912Ser)
c.2833G>A (p.Gly945Ser)
c.2527+1230G>A (n.2527+1230G>A)
 ClinVar dbSNP
2g.189004266G>CCA349844426COL3A1c.2734G>C (p.Gly912Arg)
c.2833G>C (p.Gly945Arg)
c.2527+1230G>C (n.2527+1230G>C)
2g.189004266G=CA1315403152COL3A1c.2734G= (p.Gly912=)
c.2833G= (p.Gly945=)
c.2527+1230G= (n.2527+1230G=)
2g.189004266G>TCA349844424COL3A1c.2734G>T (p.Gly912Cys)
c.2833G>T (p.Gly945Cys)
c.2527+1230G>T (n.2527+1230G>T)
 gnomAD v4
2g.189004267G>ACA349844429COL3A1c.2735G>A (p.Gly912Asp)
c.2834G>A (p.Gly945Asp)
c.2527+1231G>A (n.2527+1231G>A)
2g.189004267G>CCA349844431COL3A1c.2735G>C (p.Gly912Ala)
c.2834G>C (p.Gly945Ala)
c.2527+1231G>C (n.2527+1231G>C)
2g.189004267G>TCA349844433COL3A1c.2735G>T (p.Gly912Val)
c.2834G>T (p.Gly945Val)
c.2527+1231G>T (n.2527+1231G>T)
2g.189004268C>ACA430312191COL3A1c.2736C>A (p.Gly912=)
c.2835C>A (p.Gly945=)
c.2527+1232C>A (n.2527+1232C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189004268C=CA1315403153COL3A1c.2736C= (p.Gly912=)
c.2835C= (p.Gly945=)
c.2527+1232C= (n.2527+1232C=)
2g.189004268C>GCA430312192COL3A1c.2736C>G (p.Gly912=)
c.2835C>G (p.Gly945=)
c.2527+1232C>G (n.2527+1232C>G)
2g.189004268C>TCA430312193COL3A1c.2736C>T (p.Gly912=)
c.2835C>T (p.Gly945=)
c.2527+1232C>T (n.2527+1232C>T)
2g.189004269C>ACA349844436COL3A1c.2737C>A (p.Pro913Thr)
c.2836C>A (p.Pro946Thr)
c.2527+1233C>A (n.2527+1233C>A)
 gnomAD v4
2g.189004269C=CA1315403154COL3A1c.2737C= (p.Pro913=)
c.2836C= (p.Pro946=)
c.2527+1233C= (n.2527+1233C=)
2g.189004269C>GCA349844439COL3A1c.2737C>G (p.Pro913Ala)
c.2836C>G (p.Pro946Ala)
c.2527+1233C>G (n.2527+1233C>G)
2g.189004269C>TCA349844441COL3A1c.2737C>T (p.Pro913Ser)
c.2836C>T (p.Pro946Ser)
c.2527+1233C>T (n.2527+1233C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189004270C>ACA349844444COL3A1c.2738C>A (p.Pro913Gln)
c.2837C>A (p.Pro946Gln)
c.2527+1234C>A (n.2527+1234C>A)
 gnomAD v4
2g.189004270C=CA1315403155COL3A1c.2738C= (p.Pro913=)
c.2837C= (p.Pro946=)
c.2527+1234C= (n.2527+1234C=)
2g.189004270C>GCA349844446COL3A1c.2738C>G (p.Pro913Arg)
c.2837C>G (p.Pro946Arg)
c.2527+1234C>G (n.2527+1234C>G)
 gnomAD v4
2g.189004270C>TCA349844447COL3A1c.2738C>T (p.Pro913Leu)
c.2837C>T (p.Pro946Leu)
c.2527+1234C>T (n.2527+1234C>T)
 dbSNP
2g.189004271_189004272delCA2662310095COL3A1c.2739_2740del (p.Leu914TrpfsTer21)
c.2838_2839del (p.Leu947TrpfsTer21)
c.2527+1235_2527+1236del (n.2527+1235_2527+1236del)
 gnomAD v4
2g.189004271A=CA1315403156COL3A1c.2739A= (p.Pro913=)
c.2838A= (p.Pro946=)
c.2527+1235A= (n.2527+1235A=)
2g.189004271A>CCA430312194COL3A1c.2739A>C (p.Pro913=)
c.2838A>C (p.Pro946=)
c.2527+1235A>C (n.2527+1235A>C)
2g.189004271A>GCA430312195COL3A1c.2739A>G (p.Pro913=)
c.2838A>G (p.Pro946=)
c.2527+1235A>G (n.2527+1235A>G)
2g.189004271A>TCA430312196COL3A1c.2739A>T (p.Pro913=)
c.2838A>T (p.Pro946=)
c.2527+1235A>T (n.2527+1235A>T)
 ClinVar dbSNP gnomAD v4
2g.189004272C>ACA349844449COL3A1c.2740C>A (p.Leu914Ile)
c.2839C>A (p.Leu947Ile)
c.2527+1236C>A (n.2527+1236C>A)
2g.189004272C=CA1315403157COL3A1c.2740C= (p.Leu914=)
c.2839C= (p.Leu947=)
c.2527+1236C= (n.2527+1236C=)
2g.189004272C>GCA349844451COL3A1c.2740C>G (p.Leu914Val)
c.2839C>G (p.Leu947Val)
c.2527+1236C>G (n.2527+1236C>G)
2g.189004272C>TCA16610554COL3A1c.2740C>T (p.Leu914Phe)
c.2839C>T (p.Leu947Phe)
c.2527+1236C>T (n.2527+1236C>T)
 ClinVar dbSNP
2g.189004273T>ACA349844454COL3A1c.2741T>A (p.Leu914His)
c.2840T>A (p.Leu947His)
c.2527+1237T>A (n.2527+1237T>A)
 gnomAD v4
2g.189004273T>CCA349844458COL3A1c.2741T>C (p.Leu914Pro)
c.2840T>C (p.Leu947Pro)
c.2527+1237T>C (n.2527+1237T>C)
2g.189004273T>GCA349844457COL3A1c.2741T>G (p.Leu914Arg)
c.2840T>G (p.Leu947Arg)
c.2527+1237T>G (n.2527+1237T>G)
2g.189004274delCA2662310096COL3A1c.2742del (p.Ile916LeufsTer?)
c.2841del (p.Ile949LeufsTer?)
c.2527+1238del (n.2527+1238del)
 gnomAD v4
2g.189004274T>ACA430312197COL3A1c.2742T>A (p.Leu914=)
c.2841T>A (p.Leu947=)
c.2527+1238T>A (n.2527+1238T>A)
2g.189004274T>CCA430312198COL3A1c.2742T>C (p.Leu914=)
c.2841T>C (p.Leu947=)
c.2527+1238T>C (n.2527+1238T>C)
 ClinVar dbSNP
2g.189004274T>GCA430312199COL3A1c.2742T>G (p.Leu914=)
c.2841T>G (p.Leu947=)
c.2527+1238T>G (n.2527+1238T>G)
2g.189004274T=CA1315403158COL3A1c.2742T= (p.Leu914=)
c.2841T= (p.Leu947=)
c.2527+1238T= (n.2527+1238T=)
2g.189004275G>ACA005748COL3A1c.2743G>A (p.Gly915Arg)
c.2842G>A (p.Gly948Arg)
c.2527+1239G>A (n.2527+1239G>A)
 ClinVar dbSNP
2g.189004275G>CCA349844464COL3A1c.2743G>C (p.Gly915Arg)
c.2842G>C (p.Gly948Arg)
c.2527+1239G>C (n.2527+1239G>C)
2g.189004275G=CA1315403159COL3A1c.2743G= (p.Gly915=)
c.2842G= (p.Gly948=)
c.2527+1239G= (n.2527+1239G=)
2g.189004275G>TCA349844462COL3A1c.2743G>T (p.Gly915Trp)
c.2842G>T (p.Gly948Trp)
c.2527+1239G>T (n.2527+1239G>T)
 gnomAD v4
2g.189004276G>ACA10581907COL3A1c.2744G>A (p.Gly915Glu)
c.2843G>A (p.Gly948Glu)
c.2527+1240G>A (n.2527+1240G>A)
 ClinVar dbSNP
2g.189004276G>CCA349844468COL3A1c.2744G>C (p.Gly915Ala)
c.2843G>C (p.Gly948Ala)
c.2527+1240G>C (n.2527+1240G>C)
2g.189004276G=CA1315403160COL3A1c.2744G= (p.Gly915=)
c.2843G= (p.Gly948=)
c.2527+1240G= (n.2527+1240G=)
2g.189004276G>TCA349844470COL3A1c.2744G>T (p.Gly915Val)
c.2843G>T (p.Gly948Val)
c.2527+1240G>T (n.2527+1240G>T)
 gnomAD v4 COSMIC

Number of alleles fetched