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.189005611_189008365delCA913190217COL3A1c.2940+154_3426+223del
c.3039+154_3525+223del
c.2528-2443_2616+223del
 ClinVar
2g.189007446T>CCA2662310842COL3A1c.3157-54T>C (n.3157-54T>C)
c.3256-54T>C (n.3256-54T>C)
c.2528-608T>C (n.2528-608T>C)
 gnomAD v4
2g.189007450dupCA2753572053COL3A1c.3157-50dup (n.3157-50dup)
c.3256-50dup (n.3256-50dup)
c.2528-604dup (n.2528-604dup)
2g.189007451C>ACA2662310843COL3A1c.3157-49C>A (n.3157-49C>A)
c.3256-49C>A (n.3256-49C>A)
c.2528-603C>A (n.2528-603C>A)
 gnomAD v4
2g.189007451C>TCA2662310844COL3A1c.3157-49C>T (n.3157-49C>T)
c.3256-49C>T (n.3256-49C>T)
c.2528-603C>T (n.2528-603C>T)
 gnomAD v4
2g.189007452C>ACA2662310845COL3A1c.3157-48C>A (n.3157-48C>A)
c.3256-48C>A (n.3256-48C>A)
c.2528-602C>A (n.2528-602C>A)
 gnomAD v4
2g.189007452C>TCA2662310846COL3A1c.3157-48C>T (n.3157-48C>T)
c.3256-48C>T (n.3256-48C>T)
c.2528-602C>T (n.2528-602C>T)
 gnomAD v4
2g.189007453A=CA1315404767COL3A1c.3157-47A= (n.3157-47A=)
c.3256-47A= (n.3256-47A=)
c.2528-601A= (n.2528-601A=)
2g.189007453A>GCA075991COL3A1c.3157-47A>G (n.3157-47A>G)
c.3256-47A>G (n.3256-47A>G)
c.2528-601A>G (n.2528-601A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189007453A>TCA2577185930COL3A1c.3157-47A>T (n.3157-47A>T)
c.3256-47A>T (n.3256-47A>T)
c.2528-601A>T (n.2528-601A>T)
2g.189007454delCA2514766750COL3A1c.3157-46del (n.3157-46del)
c.3256-46del (n.3256-46del)
c.2528-600del (n.2528-600del)
2g.189007454A=CA1315404768COL3A1c.3157-46A= (n.3157-46A=)
c.3256-46A= (n.3256-46A=)
c.2528-600A= (n.2528-600A=)
2g.189007454A>CCA2662310847COL3A1c.3157-46A>C (n.3157-46A>C)
c.3256-46A>C (n.3256-46A>C)
c.2528-600A>C (n.2528-600A>C)
 gnomAD v4
2g.189007454A>GCA538449065COL3A1c.3157-46A>G (n.3157-46A>G)
c.3256-46A>G (n.3256-46A>G)
c.2528-600A>G (n.2528-600A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189007456A>GCA2825001058COL3A1c.3157-44A>G (n.3157-44A>G)
c.3256-44A>G (n.3256-44A>G)
c.2528-598A>G (n.2528-598A>G)
 ClinVar
2g.189007457T>CCA2573051821COL3A1c.3157-43T>C (n.3157-43T>C)
c.3256-43T>C (n.3256-43T>C)
c.2528-597T>C (n.2528-597T>C)
 ClinVar dbSNP
2g.189007457T>GCA006243COL3A1c.3157-43T>G (n.3157-43T>G)
c.3256-43T>G (n.3256-43T>G)
c.2528-597T>G (n.2528-597T>G)
 ClinVar dbSNP
2g.189007457T=CA1315404769COL3A1c.3157-43T= (n.3157-43T=)
c.3256-43T= (n.3256-43T=)
c.2528-597T= (n.2528-597T=)
2g.189007460A=CA1315404770COL3A1c.3157-40A= (n.3157-40A=)
c.3256-40A= (n.3256-40A=)
c.2528-594A= (n.2528-594A=)
2g.189007460A>GCA538449066COL3A1c.3157-40A>G (n.3157-40A>G)
c.3256-40A>G (n.3256-40A>G)
c.2528-594A>G (n.2528-594A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189007460A>TCA2577185931COL3A1c.3157-40A>T (n.3157-40A>T)
c.3256-40A>T (n.3256-40A>T)
c.2528-594A>T (n.2528-594A>T)
2g.189007462G>ACA075989COL3A1c.3157-38G>A (n.3157-38G>A)
c.3256-38G>A (n.3256-38G>A)
c.2528-592G>A (n.2528-592G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189007462G=CA1315404771COL3A1c.3157-38G= (n.3157-38G=)
c.3256-38G= (n.3256-38G=)
c.2528-592G= (n.2528-592G=)
2g.189007464G>ACA1040413491COL3A1c.3157-36G>A (n.3157-36G>A)
c.3256-36G>A (n.3256-36G>A)
c.2528-590G>A (n.2528-590G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189007464G=CA1315404772COL3A1c.3157-36G= (n.3157-36G=)
c.3256-36G= (n.3256-36G=)
c.2528-590G= (n.2528-590G=)
2g.189007466G>ACA1315404773COL3A1c.3157-34G>A (n.3157-34G>A)
c.3256-34G>A (n.3256-34G>A)
c.2528-588G>A (n.2528-588G>A)
 dbSNP
2g.189007466G=CA1315404774COL3A1c.3157-34G= (n.3157-34G=)
c.3256-34G= (n.3256-34G=)
c.2528-588G= (n.2528-588G=)
2g.189007467T>CCA2662310848COL3A1c.3157-33T>C (n.3157-33T>C)
c.3256-33T>C (n.3256-33T>C)
c.2528-587T>C (n.2528-587T>C)
 gnomAD v4
2g.189007468A=CA1315404775COL3A1c.3157-32A= (n.3157-32A=)
c.3256-32A= (n.3256-32A=)
c.2528-586A= (n.2528-586A=)
2g.189007468A>TCA538449067COL3A1c.3157-32A>T (n.3157-32A>T)
c.3256-32A>T (n.3256-32A>T)
c.2528-586A>T (n.2528-586A>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189007469T>CCA2662310849COL3A1c.3157-31T>C (n.3157-31T>C)
c.3256-31T>C (n.3256-31T>C)
c.2528-585T>C (n.2528-585T>C)
 gnomAD v4
2g.189007470A=CA1315404776COL3A1c.3157-30A= (n.3157-30A=)
c.3256-30A= (n.3256-30A=)
c.2528-584A= (n.2528-584A=)
2g.189007470A>GCA1315404777COL3A1c.3157-30A>G (n.3157-30A>G)
c.3256-30A>G (n.3256-30A>G)
c.2528-584A>G (n.2528-584A>G)
 dbSNP gnomAD v4
2g.189007471T>CCA538449068COL3A1c.3157-29T>C (n.3157-29T>C)
c.3256-29T>C (n.3256-29T>C)
c.2528-583T>C (n.2528-583T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189007471T=CA1315404778COL3A1c.3157-29T= (n.3157-29T=)
c.3256-29T= (n.3256-29T=)
c.2528-583T= (n.2528-583T=)
2g.189007472G>ACA075988COL3A1c.3157-28G>A (n.3157-28G>A)
c.3256-28G>A (n.3256-28G>A)
c.2528-582G>A (n.2528-582G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189007472G=CA1315404779COL3A1c.3157-28G= (n.3157-28G=)
c.3256-28G= (n.3256-28G=)
c.2528-582G= (n.2528-582G=)
2g.189007472G>TCA2577185932COL3A1c.3157-28G>T (n.3157-28G>T)
c.3256-28G>T (n.3256-28G>T)
c.2528-582G>T (n.2528-582G>T)
 gnomAD v4
2g.189007473A>GCA2577185933COL3A1c.3157-27A>G (n.3157-27A>G)
c.3256-27A>G (n.3256-27A>G)
c.2528-581A>G (n.2528-581A>G)
2g.189007474C>ACA2662310850COL3A1c.3157-26C>A (n.3157-26C>A)
c.3256-26C>A (n.3256-26C>A)
c.2528-580C>A (n.2528-580C>A)
 gnomAD v4
2g.189007475T>GCA62561289COL3A1c.3157-25T>G (n.3157-25T>G)
c.3256-25T>G (n.3256-25T>G)
c.2528-579T>G (n.2528-579T>G)
 dbSNP gnomAD v4
2g.189007475T=CA1315404780COL3A1c.3157-25T= (n.3157-25T=)
c.3256-25T= (n.3256-25T=)
c.2528-579T= (n.2528-579T=)
2g.189007479A=CA1315404781COL3A1c.3157-21A= (n.3157-21A=)
c.3256-21A= (n.3256-21A=)
c.2528-575A= (n.2528-575A=)
2g.189007479A>CCA075986COL3A1c.3157-21A>C (n.3157-21A>C)
c.3256-21A>C (n.3256-21A>C)
c.2528-575A>C (n.2528-575A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189007480T>CCA2662310851COL3A1c.3157-20T>C (n.3157-20T>C)
c.3256-20T>C (n.3256-20T>C)
c.2528-574T>C (n.2528-574T>C)
 gnomAD v4
2g.189007480T>GCA538449069COL3A1c.3157-20T>G (n.3157-20T>G)
c.3256-20T>G (n.3256-20T>G)
c.2528-574T>G (n.2528-574T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189007480T=CA1315404782COL3A1c.3157-20T= (n.3157-20T=)
c.3256-20T= (n.3256-20T=)
c.2528-574T= (n.2528-574T=)
2g.189007481T>GCA2662310852COL3A1c.3157-19T>G (n.3157-19T>G)
c.3256-19T>G (n.3256-19T>G)
c.2528-573T>G (n.2528-573T>G)
 gnomAD v4
2g.189007482C>ACA2577185934COL3A1c.3157-18C>A (n.3157-18C>A)
c.3256-18C>A (n.3256-18C>A)
c.2528-572C>A (n.2528-572C>A)
 gnomAD v4
2g.189007482C=CA1315404783COL3A1c.3157-18C= (n.3157-18C=)
c.3256-18C= (n.3256-18C=)
c.2528-572C= (n.2528-572C=)
2g.189007482C>GCA62561291COL3A1c.3157-18C>G (n.3157-18C>G)
c.3256-18C>G (n.3256-18C>G)
c.2528-572C>G (n.2528-572C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189007483A=CA1315404784COL3A1c.3157-17A= (n.3157-17A=)
c.3256-17A= (n.3256-17A=)
c.2528-571A= (n.2528-571A=)
2g.189007483A>CCA538449071COL3A1c.3157-17A>C (n.3157-17A>C)
c.3256-17A>C (n.3256-17A>C)
c.2528-571A>C (n.2528-571A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189007483A>GCA538449070COL3A1c.3157-17A>G (n.3157-17A>G)
c.3256-17A>G (n.3256-17A>G)
c.2528-571A>G (n.2528-571A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189007487_189007498delCA2662310853COL3A1c.3157-13_3157-2del (n.3157-13_3157-2del)
c.3256-13_3256-2del (n.3256-13_3256-2del)
c.2528-567_2528-556del (n.2528-567_2528-556del)
 gnomAD v4
2g.189007485A>GCA2662310854COL3A1c.3157-15A>G (n.3157-15A>G)
c.3256-15A>G (n.3256-15A>G)
c.2528-569A>G (n.2528-569A>G)
 gnomAD v4
2g.189007486A>TCA2662310855COL3A1c.3157-14A>T (n.3157-14A>T)
c.3256-14A>T (n.3256-14A>T)
c.2528-568A>T (n.2528-568A>T)
 gnomAD v4
2g.189007487T>CCA075984COL3A1c.3157-13T>C (n.3157-13T>C)
c.3256-13T>C (n.3256-13T>C)
c.2528-567T>C (n.2528-567T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189007487T=CA1315404785COL3A1c.3157-13T= (n.3157-13T=)
c.3256-13T= (n.3256-13T=)
c.2528-567T= (n.2528-567T=)
2g.189007488A=CA1315404786COL3A1c.3157-12A= (n.3157-12A=)
c.3256-12A= (n.3256-12A=)
c.2528-566A= (n.2528-566A=)
2g.189007488A>GCA075983COL3A1c.3157-12A>G (n.3157-12A>G)
c.3256-12A>G (n.3256-12A>G)
c.2528-566A>G (n.2528-566A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189007489T>CCA1315404788COL3A1c.3157-11T>C (n.3157-11T>C)
c.3256-11T>C (n.3256-11T>C)
c.2528-565T>C (n.2528-565T>C)
 dbSNP
2g.189007489T=CA1315404787COL3A1c.3157-11T= (n.3157-11T=)
c.3256-11T= (n.3256-11T=)
c.2528-565T= (n.2528-565T=)
2g.189007490G>ACA2662310856COL3A1c.3157-10G>A (n.3157-10G>A)
c.3256-10G>A (n.3256-10G>A)
c.2528-564G>A (n.2528-564G>A)
 gnomAD v4
2g.189007492T>CCA2499215540COL3A1c.3157-8T>C (n.3157-8T>C)
c.3256-8T>C (n.3256-8T>C)
c.2528-562T>C (n.2528-562T>C)
 ClinVar dbSNP gnomAD v4
2g.189007493T>CCA538449072COL3A1c.3157-7T>C (n.3157-7T>C)
c.3256-7T>C (n.3256-7T>C)
c.2528-561T>C (n.2528-561T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189007493T=CA1315404789COL3A1c.3157-7T= (n.3157-7T=)
c.3256-7T= (n.3256-7T=)
c.2528-561T= (n.2528-561T=)
2g.189007494C>ACA2662310857COL3A1c.3157-6C>A (n.3157-6C>A)
c.3256-6C>A (n.3256-6C>A)
c.2528-560C>A (n.2528-560C>A)
 gnomAD v4
2g.189007494C=CA1315404790COL3A1c.3157-6C= (n.3157-6C=)
c.3256-6C= (n.3256-6C=)
c.2528-560C= (n.2528-560C=)
2g.189007494C>TCA1315404791COL3A1c.3157-6C>T (n.3157-6C>T)
c.3256-6C>T (n.3256-6C>T)
c.2528-560C>T (n.2528-560C>T)
 ClinVar dbSNP
2g.189007495T>GCA2662310858COL3A1c.3157-5T>G (n.3157-5T>G)
c.3256-5T>G (n.3256-5T>G)
c.2528-559T>G (n.2528-559T>G)
 gnomAD v4
2g.189007496A>GCA2577185935COL3A1c.3157-4A>G (n.3157-4A>G)
c.3256-4A>G (n.3256-4A>G)
c.2528-558A>G (n.2528-558A>G)
2g.189007501_189007510delCA645372374COL3A1c.3158_3167del
c.3257_3266del
c.2528-553_2528-544del (n.2528-553_2528-544del)
 ClinVar
2g.189007498A>CCA349845515COL3A1c.3157-2A>C (n.3157-2A>C)
c.3256-2A>C (n.3256-2A>C)
c.2528-556A>C (n.2528-556A>C)
2g.189007498A>GCA349845516COL3A1c.3157-2A>G (n.3157-2A>G)
c.3256-2A>G (n.3256-2A>G)
c.2528-556A>G (n.2528-556A>G)
2g.189007498A>TCA349845514COL3A1c.3157-2A>T (n.3157-2A>T)
c.3256-2A>T (n.3256-2A>T)
c.2528-556A>T (n.2528-556A>T)
2g.189007499G>ACA349845519COL3A1c.3157-1G>A (n.3157-1G>A)
c.3256-1G>A (n.3256-1G>A)
c.2528-555G>A (n.2528-555G>A)
 ClinVar dbSNP
2g.189007499G>CCA349845521COL3A1c.3157-1G>C (n.3157-1G>C)
c.3256-1G>C (n.3256-1G>C)
c.2528-555G>C (n.2528-555G>C)
2g.189007499G=CA1315404792COL3A1c.3157-1G= (n.3157-1G=)
c.3256-1G= (n.3256-1G=)
c.2528-555G= (n.2528-555G=)
2g.189007499G>TCA349845522COL3A1c.3157-1G>T (n.3157-1G>T)
c.3256-1G>T (n.3256-1G>T)
c.2528-555G>T (n.2528-555G>T)
2g.189007500G>ACA349845525COL3A1c.3157G>A (p.Gly1053Ser)
c.3256G>A (p.Gly1086Ser)
c.2528-554G>A (n.2528-554G>A)
2g.189007500G>CCA349845527COL3A1c.3157G>C (p.Gly1053Arg)
c.3256G>C (p.Gly1086Arg)
c.2528-554G>C (n.2528-554G>C)
2g.189007500G>TCA349845528COL3A1c.3157G>T (p.Gly1053Cys)
c.3256G>T (p.Gly1086Cys)
c.2528-554G>T (n.2528-554G>T)
2g.189007501G>ACA349845531COL3A1c.3158G>A (p.Gly1053Asp)
c.3257G>A (p.Gly1086Asp)
c.2528-553G>A (n.2528-553G>A)
2g.189007501G>CCA349845533COL3A1c.3158G>C (p.Gly1053Ala)
c.3257G>C (p.Gly1086Ala)
c.2528-553G>C (n.2528-553G>C)
2g.189007501G=CA1315404793COL3A1c.3158G= (p.Gly1053=)
c.3257G= (p.Gly1086=)
c.2528-553G= (n.2528-553G=)
2g.189007501G>TCA16610641COL3A1c.3158G>T (p.Gly1053Val)
c.3257G>T (p.Gly1086Val)
c.2528-553G>T (n.2528-553G>T)
 ClinVar dbSNP
2g.189007502T>ACA430313222COL3A1c.3159T>A (p.Gly1053=)
c.3258T>A (p.Gly1086=)
c.2528-552T>A (n.2528-552T>A)
 ClinVar dbSNP
2g.189007502T>CCA430313224COL3A1c.3159T>C (p.Gly1053=)
c.3258T>C (p.Gly1086=)
c.2528-552T>C (n.2528-552T>C)
2g.189007502T>GCA430313225COL3A1c.3159T>G (p.Gly1053=)
c.3258T>G (p.Gly1086=)
c.2528-552T>G (n.2528-552T>G)
2g.189007502T=CA1315404794COL3A1c.3159T= (p.Gly1053=)
c.3258T= (p.Gly1086=)
c.2528-552T= (n.2528-552T=)
2g.189007503C>ACA349845536COL3A1c.3160C>A (p.Pro1054Thr)
c.3259C>A (p.Pro1087Thr)
c.2528-551C>A (n.2528-551C>A)
2g.189007503C=CA1315404795COL3A1c.3160C= (p.Pro1054=)
c.3259C= (p.Pro1087=)
c.2528-551C= (n.2528-551C=)
2g.189007503C>GCA349845537COL3A1c.3160C>G (p.Pro1054Ala)
c.3259C>G (p.Pro1087Ala)
c.2528-551C>G (n.2528-551C>G)
2g.189007503C>TCA349845539COL3A1c.3160C>T (p.Pro1054Ser)
c.3259C>T (p.Pro1087Ser)
c.2528-551C>T (n.2528-551C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189007504C>ACA349845542COL3A1c.3161C>A (p.Pro1054His)
c.3260C>A (p.Pro1087His)
c.2528-550C>A (n.2528-550C>A)
2g.189007504C=CA1315404796COL3A1c.3161C= (p.Pro1054=)
c.3260C= (p.Pro1087=)
c.2528-550C= (n.2528-550C=)
2g.189007504C>GCA349845545COL3A1c.3161C>G (p.Pro1054Arg)
c.3260C>G (p.Pro1087Arg)
c.2528-550C>G (n.2528-550C>G)
2g.189007504C>TCA62561308COL3A1c.3161C>T (p.Pro1054Leu)
c.3260C>T (p.Pro1087Leu)
c.2528-550C>T (n.2528-550C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189007505T>ACA430313228COL3A1c.3162T>A (p.Pro1054=)
c.3261T>A (p.Pro1087=)
c.2528-549T>A (n.2528-549T>A)
2g.189007505T>CCA430313230COL3A1c.3162T>C (p.Pro1054=)
c.3261T>C (p.Pro1087=)
c.2528-549T>C (n.2528-549T>C)
 dbSNP
2g.189007505T>GCA430313231COL3A1c.3162T>G (p.Pro1054=)
c.3261T>G (p.Pro1087=)
c.2528-549T>G (n.2528-549T>G)
2g.189007505T=CA1315404797COL3A1c.3162T= (p.Pro1054=)
c.3261T= (p.Pro1087=)
c.2528-549T= (n.2528-549T=)
2g.189007506C>ACA349845548COL3A1c.3163C>A (p.Gln1055Lys)
c.3262C>A (p.Gln1088Lys)
c.2528-548C>A (n.2528-548C>A)
2g.189007506C=CA1315404798COL3A1c.3163C= (p.Gln1055=)
c.3262C= (p.Gln1088=)
c.2528-548C= (n.2528-548C=)
2g.189007506C>GCA349845550COL3A1c.3163C>G (p.Gln1055Glu)
c.3262C>G (p.Gln1088Glu)
c.2528-548C>G (n.2528-548C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189007506C>TCA349845552COL3A1c.3163C>T (p.Gln1055Ter)
c.3262C>T (p.Gln1088Ter)
c.2528-548C>T (n.2528-548C>T)
 ClinVar dbSNP
2g.189007507A>CCA349845554COL3A1c.3164A>C (p.Gln1055Pro)
c.3263A>C (p.Gln1088Pro)
c.2528-547A>C (n.2528-547A>C)
2g.189007507A>GCA349845556COL3A1c.3164A>G (p.Gln1055Arg)
c.3263A>G (p.Gln1088Arg)
c.2528-547A>G (n.2528-547A>G)
2g.189007507A>TCA349845557COL3A1c.3164A>T (p.Gln1055Leu)
c.3263A>T (p.Gln1088Leu)
c.2528-547A>T (n.2528-547A>T)
2g.189007508A>CCA349845562COL3A1c.3165A>C (p.Gln1055His)
c.3264A>C (p.Gln1088His)
c.2528-546A>C (n.2528-546A>C)
2g.189007508A>GCA430313234COL3A1c.3165A>G (p.Gln1055=)
c.3264A>G (p.Gln1088=)
c.2528-546A>G (n.2528-546A>G)
2g.189007508A>TCA349845560COL3A1c.3165A>T (p.Gln1055His)
c.3264A>T (p.Gln1088His)
c.2528-546A>T (n.2528-546A>T)
2g.189007509G>ACA349845564COL3A1c.3166G>A (p.Gly1056Ser)
c.3265G>A (p.Gly1089Ser)
c.2528-545G>A (n.2528-545G>A)
2g.189007509G>CCA349845565COL3A1c.3166G>C (p.Gly1056Arg)
c.3265G>C (p.Gly1089Arg)
c.2528-545G>C (n.2528-545G>C)
2g.189007509G>TCA349845567COL3A1c.3166G>T (p.Gly1056Cys)
c.3265G>T (p.Gly1089Cys)
c.2528-545G>T (n.2528-545G>T)
2g.189007510delCA430313236COL3A1c.3167del (p.Gly1056AlafsTer?)
c.3266del (p.Gly1089AlafsTer?)
c.2528-544del (n.2528-544del)
 COSMIC
2g.189007510G>ACA006250COL3A1c.3167G>A (p.Gly1056Asp)
c.3266G>A (p.Gly1089Asp)
c.2528-544G>A (n.2528-544G>A)
 ClinVar dbSNP
2g.189007510G>CCA349845570COL3A1c.3167G>C (p.Gly1056Ala)
c.3266G>C (p.Gly1089Ala)
c.2528-544G>C (n.2528-544G>C)
2g.189007510G=CA1315404799COL3A1c.3167G= (p.Gly1056=)
c.3266G= (p.Gly1089=)
c.2528-544G= (n.2528-544G=)
2g.189007510G>TCA006260COL3A1c.3167G>T (p.Gly1056Val)
c.3266G>T (p.Gly1089Val)
c.2528-544G>T (n.2528-544G>T)
 ClinVar dbSNP
2g.189007511C>ACA430313238COL3A1c.3168C>A (p.Gly1056=)
c.3267C>A (p.Gly1089=)
c.2528-543C>A (n.2528-543C>A)
2g.189007511C=CA1315404800COL3A1c.3168C= (p.Gly1056=)
c.3267C= (p.Gly1089=)
c.2528-543C= (n.2528-543C=)
2g.189007511C>GCA430313239COL3A1c.3168C>G (p.Gly1056=)
c.3267C>G (p.Gly1089=)
c.2528-543C>G (n.2528-543C>G)
2g.189007511C>TCA430313241COL3A1c.3168C>T (p.Gly1056=)
c.3267C>T (p.Gly1089=)
c.2528-543C>T (n.2528-543C>T)
 dbSNP COSMIC
2g.189007512C>ACA349845577COL3A1c.3169C>A (p.Pro1057Thr)
c.3268C>A (p.Pro1090Thr)
c.2528-542C>A (n.2528-542C>A)
2g.189007512C>GCA349845575COL3A1c.3169C>G (p.Pro1057Ala)
c.3268C>G (p.Pro1090Ala)
c.2528-542C>G (n.2528-542C>G)
2g.189007512C>TCA349845574COL3A1c.3169C>T (p.Pro1057Ser)
c.3268C>T (p.Pro1090Ser)
c.2528-542C>T (n.2528-542C>T)
2g.189007513C>ACA349845580COL3A1c.3170C>A (p.Pro1057Gln)
c.3269C>A (p.Pro1090Gln)
c.2528-541C>A (n.2528-541C>A)
2g.189007513C>GCA349845584COL3A1c.3170C>G (p.Pro1057Arg)
c.3269C>G (p.Pro1090Arg)
c.2528-541C>G (n.2528-541C>G)
2g.189007513C>TCA349845582COL3A1c.3170C>T (p.Pro1057Leu)
c.3269C>T (p.Pro1090Leu)
c.2528-541C>T (n.2528-541C>T)
2g.189007514A>CCA430313245COL3A1c.3171A>C (p.Pro1057=)
c.3270A>C (p.Pro1090=)
c.2528-540A>C (n.2528-540A>C)
 gnomAD v4 COSMIC
2g.189007514A>GCA430313244COL3A1c.3171A>G (p.Pro1057=)
c.3270A>G (p.Pro1090=)
c.2528-540A>G (n.2528-540A>G)
2g.189007514A>TCA430313243COL3A1c.3171A>T (p.Pro1057=)
c.3270A>T (p.Pro1090=)
c.2528-540A>T (n.2528-540A>T)
2g.189007515C>ACA349845586COL3A1c.3172C>A (p.Arg1058Ser)
c.3271C>A (p.Arg1091Ser)
c.2528-539C>A (n.2528-539C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189007515C=CA1315404801COL3A1c.3172C= (p.Arg1058=)
c.3271C= (p.Arg1091=)
c.2528-539C= (n.2528-539C=)
2g.189007515C>GCA349845589COL3A1c.3172C>G (p.Arg1058Gly)
c.3271C>G (p.Arg1091Gly)
c.2528-539C>G (n.2528-539C>G)
2g.189007515C>TCA349845587COL3A1c.3172C>T (p.Arg1058Cys)
c.3271C>T (p.Arg1091Cys)
c.2528-539C>T (n.2528-539C>T)
2g.189007516G>ACA075994COL3A1c.3173G>A (p.Arg1058His)
c.3272G>A (p.Arg1091His)
c.2528-538G>A (n.2528-538G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189007516G>CCA349845595COL3A1c.3173G>C (p.Arg1058Pro)
c.3272G>C (p.Arg1091Pro)
c.2528-538G>C (n.2528-538G>C)
2g.189007516G=CA1315404802COL3A1c.3173G= (p.Arg1058=)
c.3272G= (p.Arg1091=)
c.2528-538G= (n.2528-538G=)
2g.189007516G>TCA349845592COL3A1c.3173G>T (p.Arg1058Leu)
c.3272G>T (p.Arg1091Leu)
c.2528-538G>T (n.2528-538G>T)
2g.189007517T>ACA430313247COL3A1c.3174T>A (p.Arg1058=)
c.3273T>A (p.Arg1091=)
c.2528-537T>A (n.2528-537T>A)
 dbSNP
2g.189007517T>CCA430313248COL3A1c.3174T>C (p.Arg1058=)
c.3273T>C (p.Arg1091=)
c.2528-537T>C (n.2528-537T>C)
 gnomAD v4
2g.189007517T>GCA430313249COL3A1c.3174T>G (p.Arg1058=)
c.3273T>G (p.Arg1091=)
c.2528-537T>G (n.2528-537T>G)
2g.189007517T=CA1315404803COL3A1c.3174T= (p.Arg1058=)
c.3273T= (p.Arg1091=)
c.2528-537T= (n.2528-537T=)
2g.189007518G>ACA349845598COL3A1c.3175G>A (p.Gly1059Ser)
c.3274G>A (p.Gly1092Ser)
c.2528-536G>A (n.2528-536G>A)
2g.189007518G>CCA349845601COL3A1c.3175G>C (p.Gly1059Arg)
c.3274G>C (p.Gly1092Arg)
c.2528-536G>C (n.2528-536G>C)
2g.189007518G>TCA349845600COL3A1c.3175G>T (p.Gly1059Cys)
c.3274G>T (p.Gly1092Cys)
c.2528-536G>T (n.2528-536G>T)
 ClinVar dbSNP
2g.189007519G>ACA349845603COL3A1c.3176G>A (p.Gly1059Asp)
c.3275G>A (p.Gly1092Asp)
c.2528-535G>A (n.2528-535G>A)
2g.189007519G>CCA349845606COL3A1c.3176G>C (p.Gly1059Ala)
c.3275G>C (p.Gly1092Ala)
c.2528-535G>C (n.2528-535G>C)
2g.189007519G=CA1315404804COL3A1c.3176G= (p.Gly1059=)
c.3275G= (p.Gly1092=)
c.2528-535G= (n.2528-535G=)
2g.189007519G>TCA006265COL3A1c.3176G>T (p.Gly1059Val)
c.3275G>T (p.Gly1092Val)
c.2528-535G>T (n.2528-535G>T)
 ClinVar dbSNP
2g.189007520T>ACA430313251COL3A1c.3177T>A (p.Gly1059=)
c.3276T>A (p.Gly1092=)
c.2528-534T>A (n.2528-534T>A)
2g.189007520T>CCA430313252COL3A1c.3177T>C (p.Gly1059=)
c.3276T>C (p.Gly1092=)
c.2528-534T>C (n.2528-534T>C)
 ClinVar dbSNP
2g.189007520T>GCA430313253COL3A1c.3177T>G (p.Gly1059=)
c.3276T>G (p.Gly1092=)
c.2528-534T>G (n.2528-534T>G)
2g.189007521G>ACA349845608COL3A1c.3178G>A (p.Asp1060Asn)
c.3277G>A (p.Asp1093Asn)
c.2528-533G>A (n.2528-533G>A)
 ClinVar dbSNP gnomAD v4
2g.189007521G>CCA349845610COL3A1c.3178G>C (p.Asp1060His)
c.3277G>C (p.Asp1093His)
c.2528-533G>C (n.2528-533G>C)
2g.189007521G>TCA349845611COL3A1c.3178G>T (p.Asp1060Tyr)
c.3277G>T (p.Asp1093Tyr)
c.2528-533G>T (n.2528-533G>T)
 COSMIC
2g.189007522A>CCA349845614COL3A1c.3179A>C (p.Asp1060Ala)
c.3278A>C (p.Asp1093Ala)
c.2528-532A>C (n.2528-532A>C)
2g.189007522A>GCA349845616COL3A1c.3179A>G (p.Asp1060Gly)
c.3278A>G (p.Asp1093Gly)
c.2528-532A>G (n.2528-532A>G)
2g.189007522A>TCA349845618COL3A1c.3179A>T (p.Asp1060Val)
c.3278A>T (p.Asp1093Val)
c.2528-532A>T (n.2528-532A>T)
2g.189007523C>ACA349845621COL3A1c.3180C>A (p.Asp1060Glu)
c.3279C>A (p.Asp1093Glu)
c.2528-531C>A (n.2528-531C>A)
2g.189007523C>GCA349845622COL3A1c.3180C>G (p.Asp1060Glu)
c.3279C>G (p.Asp1093Glu)
c.2528-531C>G (n.2528-531C>G)
2g.189007523C>TCA430313254COL3A1c.3180C>T (p.Asp1060=)
c.3279C>T (p.Asp1093=)
c.2528-531C>T (n.2528-531C>T)
2g.189007523_189007527delCA2662310859COL3A1c.3180_3184del (p.Asp1060GlufsTer2)
c.3279_3283del (p.Asp1093GlufsTer2)
c.2528-531_2528-527del (n.2528-531_2528-527del)
 gnomAD v4
2g.189007524A>CCA349845625COL3A1c.3181A>C (p.Lys1061Gln)
c.3280A>C (p.Lys1094Gln)
c.2528-530A>C (n.2528-530A>C)
2g.189007524A>GCA349845627COL3A1c.3181A>G (p.Lys1061Glu)
c.3280A>G (p.Lys1094Glu)
c.2528-530A>G (n.2528-530A>G)
2g.189007524A>TCA349845629COL3A1c.3181A>T (p.Lys1061Ter)
c.3280A>T (p.Lys1094Ter)
c.2528-530A>T (n.2528-530A>T)
2g.189007525A>CCA349845631COL3A1c.3182A>C (p.Lys1061Thr)
c.3281A>C (p.Lys1094Thr)
c.2528-529A>C (n.2528-529A>C)
2g.189007525A>GCA349845636COL3A1c.3182A>G (p.Lys1061Arg)
c.3281A>G (p.Lys1094Arg)
c.2528-529A>G (n.2528-529A>G)
 ClinVar dbSNP
2g.189007525A>TCA349845633COL3A1c.3182A>T (p.Lys1061Ile)
c.3281A>T (p.Lys1094Ile)
c.2528-529A>T (n.2528-529A>T)
2g.189007526A>CCA349845638COL3A1c.3183A>C (p.Lys1061Asn)
c.3282A>C (p.Lys1094Asn)
c.2528-528A>C (n.2528-528A>C)
2g.189007526A>GCA430313259COL3A1c.3183A>G (p.Lys1061=)
c.3282A>G (p.Lys1094=)
c.2528-528A>G (n.2528-528A>G)
2g.189007526A>TCA349845639COL3A1c.3183A>T (p.Lys1061Asn)
c.3282A>T (p.Lys1094Asn)
c.2528-528A>T (n.2528-528A>T)
2g.189007527G>ACA349845642COL3A1c.3184G>A (p.Gly1062Ser)
c.3283G>A (p.Gly1095Ser)
c.2528-527G>A (n.2528-527G>A)
2g.189007527G>CCA349845643COL3A1c.3184G>C (p.Gly1062Arg)
c.3283G>C (p.Gly1095Arg)
c.2528-527G>C (n.2528-527G>C)
2g.189007527G>TCA349845644COL3A1c.3184G>T (p.Gly1062Cys)
c.3283G>T (p.Gly1095Cys)
c.2528-527G>T (n.2528-527G>T)
2g.189007527_189007528insAACTTTTAGATCCTGAACTCA2507867924COL3A1c.3184_3185insAACTTTTAGATCCTGAACT (p.Gly1062GlufsTer8)
c.3283_3284insAACTTTTAGATCCTGAACT (p.Gly1095GlufsTer8)
c.2528-527_2528-526insAACTTTTAGATCCTGAACT (n.2528-527_2528-526insAACTTTTAGATCCTGAACT)
2g.189007528G>ACA006271COL3A1c.3185G>A (p.Gly1062Asp)
c.3284G>A (p.Gly1095Asp)
c.2528-526G>A (n.2528-526G>A)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.189007528G>CCA349845647COL3A1c.3185G>C (p.Gly1062Ala)
c.3284G>C (p.Gly1095Ala)
c.2528-526G>C (n.2528-526G>C)
2g.189007528G=CA1315404805COL3A1c.3185G= (p.Gly1062=)
c.3284G= (p.Gly1095=)
c.2528-526G= (n.2528-526G=)
2g.189007528G>TCA349845648COL3A1c.3185G>T (p.Gly1062Val)
c.3284G>T (p.Gly1095Val)
c.2528-526G>T (n.2528-526G>T)
 ClinVar dbSNP
2g.189007529T>ACA430313261COL3A1c.3186T>A (p.Gly1062=)
c.3285T>A (p.Gly1095=)
c.2528-525T>A (n.2528-525T>A)
 dbSNP
2g.189007529T>CCA430313263COL3A1c.3186T>C (p.Gly1062=)
c.3285T>C (p.Gly1095=)
c.2528-525T>C (n.2528-525T>C)
2g.189007529T>GCA430313264COL3A1c.3186T>G (p.Gly1062=)
c.3285T>G (p.Gly1095=)
c.2528-525T>G (n.2528-525T>G)
2g.189007530G>ACA349845653COL3A1c.3187G>A (p.Glu1063Lys)
c.3286G>A (p.Glu1096Lys)
c.2528-524G>A (n.2528-524G>A)
2g.189007530G>CCA349845655COL3A1c.3187G>C (p.Glu1063Gln)
c.3286G>C (p.Glu1096Gln)
c.2528-524G>C (n.2528-524G>C)
2g.189007530G>TCA349845652COL3A1c.3187G>T (p.Glu1063Ter)
c.3286G>T (p.Glu1096Ter)
c.2528-524G>T (n.2528-524G>T)
2g.189007531A>CCA349845658COL3A1c.3188A>C (p.Glu1063Ala)
c.3287A>C (p.Glu1096Ala)
c.2528-523A>C (n.2528-523A>C)
2g.189007531A>GCA349845660COL3A1c.3188A>G (p.Glu1063Gly)
c.3287A>G (p.Glu1096Gly)
c.2528-523A>G (n.2528-523A>G)
2g.189007531A>TCA349845662COL3A1c.3188A>T (p.Glu1063Val)
c.3287A>T (p.Glu1096Val)
c.2528-523A>T (n.2528-523A>T)
 gnomAD v4
2g.189007533delCA645514678COL3A1c.3190del (p.Thr1064GlnfsTer?)
c.3289del (p.Thr1097GlnfsTer?)
c.2528-521del (n.2528-521del)
 COSMIC
2g.189007532A=CA1315404806COL3A1c.3189A= (p.Glu1063=)
c.3288A= (p.Glu1096=)
c.2528-522A= (n.2528-522A=)
2g.189007532A>CCA349845665COL3A1c.3189A>C (p.Glu1063Asp)
c.3288A>C (p.Glu1096Asp)
c.2528-522A>C (n.2528-522A>C)
2g.189007532A>GCA075996COL3A1c.3189A>G (p.Glu1063=)
c.3288A>G (p.Glu1096=)
c.2528-522A>G (n.2528-522A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189007532A>TCA349845668COL3A1c.3189A>T (p.Glu1063Asp)
c.3288A>T (p.Glu1096Asp)
c.2528-522A>T (n.2528-522A>T)
2g.189007533A=CA1315404807COL3A1c.3190A= (p.Thr1064=)
c.3289A= (p.Thr1097=)
c.2528-521A= (n.2528-521A=)
2g.189007533A>CCA349845671COL3A1c.3190A>C (p.Thr1064Pro)
c.3289A>C (p.Thr1097Pro)
c.2528-521A>C (n.2528-521A>C)
 dbSNP
2g.189007533A>GCA349845673COL3A1c.3190A>G (p.Thr1064Ala)
c.3289A>G (p.Thr1097Ala)
c.2528-521A>G (n.2528-521A>G)
2g.189007533A>TCA349845674COL3A1c.3190A>T (p.Thr1064Ser)
c.3289A>T (p.Thr1097Ser)
c.2528-521A>T (n.2528-521A>T)
2g.189007534_189007535delCA2573134202COL3A1c.3191_3192del (p.Thr1064ArgfsTer2)
c.3290_3291del (p.Thr1097ArgfsTer2)
c.2528-520_2528-519del (n.2528-520_2528-519del)
 ClinVar dbSNP
2g.189007534C>ACA349845677COL3A1c.3191C>A (p.Thr1064Lys)
c.3290C>A (p.Thr1097Lys)
c.2528-520C>A (n.2528-520C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189007534C=CA1315404808COL3A1c.3191C= (p.Thr1064=)
c.3290C= (p.Thr1097=)
c.2528-520C= (n.2528-520C=)
2g.189007534C>GCA349845679COL3A1c.3191C>G (p.Thr1064Arg)
c.3290C>G (p.Thr1097Arg)
c.2528-520C>G (n.2528-520C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189007534C>TCA349845680COL3A1c.3191C>T (p.Thr1064Ile)
c.3290C>T (p.Thr1097Ile)
c.2528-520C>T (n.2528-520C>T)
2g.189007535A=CA1315404809COL3A1c.3192A= (p.Thr1064=)
c.3291A= (p.Thr1097=)
c.2528-519A= (n.2528-519A=)
2g.189007535A>CCA430313272COL3A1c.3192A>C (p.Thr1064=)
c.3291A>C (p.Thr1097=)
c.2528-519A>C (n.2528-519A>C)
 dbSNP
2g.189007535A>GCA430313271COL3A1c.3192A>G (p.Thr1064=)
c.3291A>G (p.Thr1097=)
c.2528-519A>G (n.2528-519A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189007535A>TCA430313269COL3A1c.3192A>T (p.Thr1064=)
c.3291A>T (p.Thr1097=)
c.2528-519A>T (n.2528-519A>T)
 dbSNP
2g.189007536G>ACA349845682COL3A1c.3193G>A (p.Gly1065Ser)
c.3292G>A (p.Gly1098Ser)
c.2528-518G>A (n.2528-518G>A)
2g.189007536G>CCA349845685COL3A1c.3193G>C (p.Gly1065Arg)
c.3292G>C (p.Gly1098Arg)
c.2528-518G>C (n.2528-518G>C)
 ClinVar dbSNP
2g.189007536G>TCA349845684COL3A1c.3193G>T (p.Gly1065Cys)
c.3292G>T (p.Gly1098Cys)
c.2528-518G>T (n.2528-518G>T)
2g.189007536_189007542delinsGGTGAACCA1315404810COL3A1c.3193_3199delinsGGTGAAC (p.Gly1065=)
c.3292_3298delinsGGTGAAC (p.Gly1098=)
c.2528-518_2528-512delinsGGTGAAC (n.2528-518_2528-512delinsGGTGAAC)
2g.189007537G>ACA349845688COL3A1c.3194G>A (p.Gly1065Asp)
c.3293G>A (p.Gly1098Asp)
c.2528-517G>A (n.2528-517G>A)
2g.189007537G>CCA349845690COL3A1c.3194G>C (p.Gly1065Ala)
c.3293G>C (p.Gly1098Ala)
c.2528-517G>C (n.2528-517G>C)
2g.189007537G=CA1315404811COL3A1c.3194G= (p.Gly1065=)
c.3293G= (p.Gly1098=)
c.2528-517G= (n.2528-517G=)
2g.189007537G>TCA006278COL3A1c.3194G>T (p.Gly1065Val)
c.3293G>T (p.Gly1098Val)
c.2528-517G>T (n.2528-517G>T)
 ClinVar dbSNP
2g.189007540_189007545delCA1315404812COL3A1c.3197_3202del (p.Glu1066_Arg1067del)
c.3296_3301del (p.Glu1099_Arg1100del)
c.2528-514_2528-509del (n.2528-514_2528-509del)
 dbSNP
2g.189007538T>ACA430313276COL3A1c.3195T>A (p.Gly1065=)
c.3294T>A (p.Gly1098=)
c.2528-516T>A (n.2528-516T>A)
2g.189007538T>CCA430313275COL3A1c.3195T>C (p.Gly1065=)
c.3294T>C (p.Gly1098=)
c.2528-516T>C (n.2528-516T>C)
2g.189007538T>GCA430313273COL3A1c.3195T>G (p.Gly1065=)
c.3294T>G (p.Gly1098=)
c.2528-516T>G (n.2528-516T>G)
2g.189007539G>ACA349845694COL3A1c.3196G>A (p.Glu1066Lys)
c.3295G>A (p.Glu1099Lys)
c.2528-515G>A (n.2528-515G>A)
2g.189007539G>CCA349845696COL3A1c.3196G>C (p.Glu1066Gln)
c.3295G>C (p.Glu1099Gln)
c.2528-515G>C (n.2528-515G>C)
2g.189007539G>TCA349845698COL3A1c.3196G>T (p.Glu1066Ter)
c.3295G>T (p.Glu1099Ter)
c.2528-515G>T (n.2528-515G>T)
2g.189007539_189007540insGAGTAGATGGTTTTGAAGCGAAAGAACA2560642434COL3A1c.3196_3197insGAGTAGATGGTTTTGAAGCGAAAGAA (p.Glu1066GlyfsTer?)
c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAA (p.Glu1099GlyfsTer?)
c.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAA (n.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAA)
2g.189007539_189007540insGAGTAGAAGGTTTTGAAGCAAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATATGGTAAAAGAGCAATATATTTTTAGCTACGTCTACA2573332964COL3A1c.3196_3197insGAGTAGAAGGTTTTGAAGCAAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATATGGTAAAAGAGCAATATATTTTTAGCTACGTCTA (p.Glu1066GlyfsTer23)
c.3295_3296insGAGTAGAAGGTTTTGAAGCAAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATATGGTAAAAGAGCAATATATTTTTAGCTACGTCTA (p.Glu1099GlyfsTer23)
c.2528-515_2528-514insGAGTAGAAGGTTTTGAAGCAAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATATGGTAAAAGAGCAATATATTTTTAGCTACGTCTA (n.2528-515_2528-514insGAGTAGAAGGTTTTGAAGCAAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATATGGTAAAAGAGCAATATATTTTTAGCTACGTCTA)
2g.189007539_189007540insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATCA2504360392COL3A1c.3196_3197insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTAT (p.Glu1066GlyfsTer23)
c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTAT (p.Glu1099GlyfsTer23)
c.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTAT (n.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTAT)
2g.189007539_189007540insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGAGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTTTATATGGTAAAAGGACAATATATTTTTAGCCACGTCTAAACTTATATTGTATATCA2535455506COL3A1c.3196_3197insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGAGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTTTATATGGTAAAAGGACAATATATTTTTAGCCACGTCTAAACTTATATTGTATAT (p.Glu1066GlyfsTer23)
c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGAGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTTTATATGGTAAAAGGACAATATATTTTTAGCCACGTCTAAACTTATATTGTATAT (p.Glu1099GlyfsTer23)
c.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGAGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTTTATATGGTAAAAGGACAATATATTTTTAGCCACGTCTAAACTTATATTGTATAT (n.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGAGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTTTATATGGTAAAAGGACAATATATTTTTAGCCACGTCTAAACTTATATTGTATAT)
2g.189007539_189007540insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATATCA538449073COL3A1c.3196_3197insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT (p.Glu1066GlyfsTer23)
c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT (p.Glu1099GlyfsTer23)
c.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT (n.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT)
 gnomAD v2
2g.189007539_189007540insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATATCA2528714016COL3A1c.3196_3197insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT (p.Glu1066GlyfsTer23)
c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT (p.Glu1099GlyfsTer23)
c.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT (n.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT)
2g.189007540A>CCA349845701COL3A1c.3197A>C (p.Glu1066Ala)
c.3296A>C (p.Glu1099Ala)
c.2528-514A>C (n.2528-514A>C)
2g.189007540A>GCA349845703COL3A1c.3197A>G (p.Glu1066Gly)
c.3296A>G (p.Glu1099Gly)
c.2528-514A>G (n.2528-514A>G)
 gnomAD v4
2g.189007540A>TCA349845704COL3A1c.3197A>T (p.Glu1066Val)
c.3296A>T (p.Glu1099Val)
c.2528-514A>T (n.2528-514A>T)
2g.189007541A>CCA349845707COL3A1c.3198A>C (p.Glu1066Asp)
c.3297A>C (p.Glu1099Asp)
c.2528-513A>C (n.2528-513A>C)
2g.189007541A>GCA430313277COL3A1c.3198A>G (p.Glu1066=)
c.3297A>G (p.Glu1099=)
c.2528-513A>G (n.2528-513A>G)
2g.189007541A>TCA349845708COL3A1c.3198A>T (p.Glu1066Asp)
c.3297A>T (p.Glu1099Asp)
c.2528-513A>T (n.2528-513A>T)
2g.189007542C>ACA349845711COL3A1c.3199C>A (p.Arg1067Ser)
c.3298C>A (p.Arg1100Ser)
c.2528-512C>A (n.2528-512C>A)
2g.189007542C=CA1315404813COL3A1c.3199C= (p.Arg1067=)
c.3298C= (p.Arg1100=)
c.2528-512C= (n.2528-512C=)
2g.189007542C>GCA349845713COL3A1c.3199C>G (p.Arg1067Gly)
c.3298C>G (p.Arg1100Gly)
c.2528-512C>G (n.2528-512C>G)
 gnomAD v4
2g.189007542C>TCA075998COL3A1c.3199C>T (p.Arg1067Cys)
c.3298C>T (p.Arg1100Cys)
c.2528-512C>T (n.2528-512C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189007543G>ACA076000COL3A1c.3200G>A (p.Arg1067His)
c.3299G>A (p.Arg1100His)
c.2528-511G>A (n.2528-511G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189007543G>CCA349845714COL3A1c.3200G>C (p.Arg1067Pro)
c.3299G>C (p.Arg1100Pro)
c.2528-511G>C (n.2528-511G>C)
2g.189007543G=CA1315404814COL3A1c.3200G= (p.Arg1067=)
c.3299G= (p.Arg1100=)
c.2528-511G= (n.2528-511G=)
2g.189007543G>TCA349845716COL3A1c.3200G>T (p.Arg1067Leu)
c.3299G>T (p.Arg1100Leu)
c.2528-511G>T (n.2528-511G>T)
 COSMIC
2g.189007543_189007544insAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATATAACTCA2530229997COL3A1c.3200_3201insAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATATAACT (p.Gly1068MetfsTer27)
c.3299_3300insAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATATAACT (p.Gly1101MetfsTer27)
c.2528-511_2528-510insAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATATAACT (n.2528-511_2528-510insAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATATAACT)
2g.189007544T>ACA430313279COL3A1c.3201T>A (p.Arg1067=)
c.3300T>A (p.Arg1100=)
c.2528-510T>A (n.2528-510T>A)
2g.189007544T>CCA430313280COL3A1c.3201T>C (p.Arg1067=)
c.3300T>C (p.Arg1100=)
c.2528-510T>C (n.2528-510T>C)
 gnomAD v4
2g.189007544T>GCA430313281COL3A1c.3201T>G (p.Arg1067=)
c.3300T>G (p.Arg1100=)
c.2528-510T>G (n.2528-510T>G)
2g.189007545G>ACA006284COL3A1c.3202G>A (p.Gly1068Arg)
c.3301G>A (p.Gly1101Arg)
c.2528-509G>A (n.2528-509G>A)
 ClinVar dbSNP
2g.189007545G>CCA349845720COL3A1c.3202G>C (p.Gly1068Arg)
c.3301G>C (p.Gly1101Arg)
c.2528-509G>C (n.2528-509G>C)
2g.189007545G=CA1315404815COL3A1c.3202G= (p.Gly1068=)
c.3301G= (p.Gly1101=)
c.2528-509G= (n.2528-509G=)
2g.189007545G>TCA349845722COL3A1c.3202G>T (p.Gly1068Ter)
c.3301G>T (p.Gly1101Ter)
c.2528-509G>T (n.2528-509G>T)
2g.189007546G>ACA006290COL3A1c.3203G>A (p.Gly1068Glu)
c.3302G>A (p.Gly1101Glu)
c.2528-508G>A (n.2528-508G>A)
 ClinVar dbSNP
2g.189007546G>CCA349845727COL3A1c.3203G>C (p.Gly1068Ala)
c.3302G>C (p.Gly1101Ala)
c.2528-508G>C (n.2528-508G>C)
 COSMIC
2g.189007546G=CA1315404816COL3A1c.3203G= (p.Gly1068=)
c.3302G= (p.Gly1101=)
c.2528-508G= (n.2528-508G=)
2g.189007546G>TCA349845724COL3A1c.3203G>T (p.Gly1068Val)
c.3302G>T (p.Gly1101Val)
c.2528-508G>T (n.2528-508G>T)

Number of alleles fetched