Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189008959T>ACA430406545COL3A1c.3462T>A (p.Pro1154=)
c.3561T>A (p.Pro1187=)
c.2652T>A (p.Pro884=)
n.658T>A
2g.189008959T>CCA430406546COL3A1c.3462T>C (p.Pro1154=)
c.3561T>C (p.Pro1187=)
c.2652T>C (p.Pro884=)
n.658T>C
2g.189008959T>GCA430406547COL3A1c.3462T>G (p.Pro1154=)
c.3561T>G (p.Pro1187=)
c.2652T>G (p.Pro884=)
n.658T>G
2g.189008960G>ACA006665COL3A1c.3463G>A (p.Gly1155Arg)
c.3562G>A (p.Gly1188Arg)
c.2653G>A (p.Gly885Arg)
n.659G>A
 ClinVar dbSNP
2g.189008960G>CCA349846641COL3A1c.3463G>C (p.Gly1155Arg)
c.3562G>C (p.Gly1188Arg)
c.2653G>C (p.Gly885Arg)
n.659G>C
2g.189008960G=CA1315405492COL3A1c.3463G= (p.Gly1155=)
c.3562G= (p.Gly1188=)
c.2653G= (p.Gly885=)
n.659G=
2g.189008960G>TCA349846642COL3A1c.3463G>T (p.Gly1155Ter)
c.3562G>T (p.Gly1188Ter)
c.2653G>T (p.Gly885Ter)
n.659G>T
2g.189008961G>ACA006671COL3A1c.3464G>A (p.Gly1155Glu)
c.3563G>A (p.Gly1188Glu)
c.2654G>A (p.Gly885Glu)
n.660G>A
 ClinVar dbSNP
2g.189008961G>CCA349846643COL3A1c.3464G>C (p.Gly1155Ala)
c.3563G>C (p.Gly1188Ala)
c.2654G>C (p.Gly885Ala)
n.660G>C
2g.189008961G=CA1315405493COL3A1c.3464G= (p.Gly1155=)
c.3563G= (p.Gly1188=)
c.2654G= (p.Gly885=)
n.660G=
2g.189008961G>TCA349846644COL3A1c.3464G>T (p.Gly1155Val)
c.3563G>T (p.Gly1188Val)
c.2654G>T (p.Gly885Val)
n.660G>T
2g.189008962A>CCA430406548COL3A1c.3465A>C (p.Gly1155=)
c.3564A>C (p.Gly1188=)
c.2655A>C (p.Gly885=)
n.661A>C
 gnomAD v4
2g.189008962A>GCA430406549COL3A1c.3465A>G (p.Gly1155=)
c.3564A>G (p.Gly1188=)
c.2655A>G (p.Gly885=)
n.661A>G
2g.189008962A>TCA430406550COL3A1c.3465A>T (p.Gly1155=)
c.3564A>T (p.Gly1188=)
c.2655A>T (p.Gly885=)
n.661A>T
2g.189008963C>ACA349846645COL3A1c.3466C>A (p.Pro1156Thr)
c.3565C>A (p.Pro1189Thr)
c.2656C>A (p.Pro886Thr)
n.662C>A
2g.189008963C=CA1315405494COL3A1c.3466C= (p.Pro1156=)
c.3565C= (p.Pro1189=)
c.2656C= (p.Pro886=)
n.662C=
2g.189008963C>GCA349846646COL3A1c.3466C>G (p.Pro1156Ala)
c.3565C>G (p.Pro1189Ala)
c.2656C>G (p.Pro886Ala)
n.662C>G
 ClinVar
2g.189008963C>TCA349846647COL3A1c.3466C>T (p.Pro1156Ser)
c.3565C>T (p.Pro1189Ser)
c.2656C>T (p.Pro886Ser)
n.662C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189008964C>ACA349846648COL3A1c.3467C>A (p.Pro1156His)
c.3566C>A (p.Pro1189His)
c.2657C>A (p.Pro886His)
n.663C>A
 gnomAD v4
2g.189008964C=CA1315405495COL3A1c.3467C= (p.Pro1156=)
c.3566C= (p.Pro1189=)
c.2657C= (p.Pro886=)
n.663C=
2g.189008964C>GCA349846649COL3A1c.3467C>G (p.Pro1156Arg)
c.3566C>G (p.Pro1189Arg)
c.2657C>G (p.Pro886Arg)
n.663C>G
2g.189008964C>TCA076189COL3A1c.3467C>T (p.Pro1156Leu)
c.3566C>T (p.Pro1189Leu)
c.2657C>T (p.Pro886Leu)
n.663C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189008965T>ACA430406551COL3A1c.3468T>A (p.Pro1156=)
c.3567T>A (p.Pro1189=)
c.2658T>A (p.Pro886=)
n.664T>A
2g.189008965T>CCA430406552COL3A1c.3468T>C (p.Pro1156=)
c.3567T>C (p.Pro1189=)
c.2658T>C (p.Pro886=)
n.664T>C
2g.189008965T>GCA430406553COL3A1c.3468T>G (p.Pro1156=)
c.3567T>G (p.Pro1189=)
c.2658T>G (p.Pro886=)
n.664T>G
2g.189008966C>ACA349846650COL3A1c.3469C>A (p.Pro1157Thr)
c.3568C>A (p.Pro1190Thr)
c.2659C>A (p.Pro887Thr)
n.665C>A
2g.189008966C>GCA349846652COL3A1c.3469C>G (p.Pro1157Ala)
c.3568C>G (p.Pro1190Ala)
c.2659C>G (p.Pro887Ala)
n.665C>G
2g.189008966C>TCA349846651COL3A1c.3469C>T (p.Pro1157Ser)
c.3568C>T (p.Pro1190Ser)
c.2659C>T (p.Pro887Ser)
n.665C>T
 gnomAD v4 COSMIC COSMIC
2g.189008972_189008980delCA2573051822COL3A1c.3475_3483del (p.Ala1159_Gly1161del)
c.3574_3582del (p.Ala1192_Gly1194del)
c.2665_2673del (p.Ala889_Gly891del)
n.671_679del
 ClinVar dbSNP gnomAD v4
2g.189008967C>ACA349846653COL3A1c.3470C>A (p.Pro1157His)
c.3569C>A (p.Pro1190His)
c.2660C>A (p.Pro887His)
n.666C>A
2g.189008967C=CA1315405496COL3A1c.3470C= (p.Pro1157=)
c.3569C= (p.Pro1190=)
c.2660C= (p.Pro887=)
n.666C=
2g.189008967C>GCA349846654COL3A1c.3470C>G (p.Pro1157Arg)
c.3569C>G (p.Pro1190Arg)
c.2660C>G (p.Pro887Arg)
n.666C>G
 dbSNP
2g.189008967C>TCA349846655COL3A1c.3470C>T (p.Pro1157Leu)
c.3569C>T (p.Pro1190Leu)
c.2660C>T (p.Pro887Leu)
n.666C>T
2g.189008968T>ACA430406554COL3A1c.3471T>A (p.Pro1157=)
c.3570T>A (p.Pro1190=)
c.2661T>A (p.Pro887=)
n.667T>A
 ClinVar dbSNP gnomAD v4
2g.189008968T>CCA430406555COL3A1c.3471T>C (p.Pro1157=)
c.3570T>C (p.Pro1190=)
c.2661T>C (p.Pro887=)
n.667T>C
 ClinVar dbSNP gnomAD v4
2g.189008968T>GCA430406556COL3A1c.3471T>G (p.Pro1157=)
c.3570T>G (p.Pro1190=)
c.2661T>G (p.Pro887=)
n.667T>G
2g.189008968T=CA1315405497COL3A1c.3471T= (p.Pro1157=)
c.3570T= (p.Pro1190=)
c.2661T= (p.Pro887=)
n.667T=
2g.189008969G>ACA349846656COL3A1c.3472G>A (p.Gly1158Ser)
c.3571G>A (p.Gly1191Ser)
c.2662G>A (p.Gly888Ser)
n.668G>A
2g.189008969G>CCA349846657COL3A1c.3472G>C (p.Gly1158Arg)
c.3571G>C (p.Gly1191Arg)
c.2662G>C (p.Gly888Arg)
n.668G>C
2g.189008969G>TCA349846658COL3A1c.3472G>T (p.Gly1158Cys)
c.3571G>T (p.Gly1191Cys)
c.2662G>T (p.Gly888Cys)
n.668G>T
2g.189008970G>ACA006679COL3A1c.3473G>A (p.Gly1158Asp)
c.3572G>A (p.Gly1191Asp)
c.2663G>A (p.Gly888Asp)
n.669G>A
 ClinVar dbSNP
2g.189008970G>CCA349846659COL3A1c.3473G>C (p.Gly1158Ala)
c.3572G>C (p.Gly1191Ala)
c.2663G>C (p.Gly888Ala)
n.669G>C
2g.189008970G=CA1315405498COL3A1c.3473G= (p.Gly1158=)
c.3572G= (p.Gly1191=)
c.2663G= (p.Gly888=)
n.669G=
2g.189008970G>TCA349846660COL3A1c.3473G>T (p.Gly1158Val)
c.3572G>T (p.Gly1191Val)
c.2663G>T (p.Gly888Val)
n.669G>T
2g.189008970_189008971insACCTCCAGGCGAACCTGGTAAGGATGGCGTTGACGGAATAAATGGTGAACAAGGGTTACAGGGTACA2753584204COL3A1c.3473_3474insACCTCCAGGCGAACCTGGTAAGGATGGCGTTGACGGAATAAATGGTGAACAAGGGTTACAGGGTA (p.Ala1159ProfsTer?)
c.3572_3573insACCTCCAGGCGAACCTGGTAAGGATGGCGTTGACGGAATAAATGGTGAACAAGGGTTACAGGGTA (p.Ala1192ProfsTer?)
c.2663_2664insACCTCCAGGCGAACCTGGTAAGGATGGCGTTGACGGAATAAATGGTGAACAAGGGTTACAGGGTA (p.Ala889ProfsTer?)
n.669_670insACCTCCAGGCGAACCTGGTAAGGATGGCGTTGACGGAATAAATGGTGAACAAGGGTTACAGGGTA
2g.189008971T>ACA430406557COL3A1c.3474T>A (p.Gly1158=)
c.3573T>A (p.Gly1191=)
c.2664T>A (p.Gly888=)
n.670T>A
2g.189008971T>CCA430406558COL3A1c.3474T>C (p.Gly1158=)
c.3573T>C (p.Gly1191=)
c.2664T>C (p.Gly888=)
n.670T>C
2g.189008971T>GCA430406559COL3A1c.3474T>G (p.Gly1158=)
c.3573T>G (p.Gly1191=)
c.2664T>G (p.Gly888=)
n.670T>G
2g.189008972G>ACA076192COL3A1c.3475G>A (p.Ala1159Thr)
c.3574G>A (p.Ala1192Thr)
c.2665G>A (p.Ala889Thr)
n.671G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189008972G>CCA349846662COL3A1c.3475G>C (p.Ala1159Pro)
c.3574G>C (p.Ala1192Pro)
c.2665G>C (p.Ala889Pro)
n.671G>C
2g.189008972G=CA1315405499COL3A1c.3475G= (p.Ala1159=)
c.3574G= (p.Ala1192=)
c.2665G= (p.Ala889=)
n.671G=
2g.189008972G>TCA349846661COL3A1c.3475G>T (p.Ala1159Ser)
c.3574G>T (p.Ala1192Ser)
c.2665G>T (p.Ala889Ser)
n.671G>T
2g.189008972_189008973insTTCA2517476648COL3A1c.3475_3476insTT (p.Ala1159ValfsTer?)
c.3574_3575insTT (p.Ala1192ValfsTer?)
c.2665_2666insTT (p.Ala889ValfsTer?)
n.671_672insTT
2g.189008973C>ACA349846663COL3A1c.3476C>A (p.Ala1159Asp)
c.3575C>A (p.Ala1192Asp)
c.2666C>A (p.Ala889Asp)
n.672C>A
 gnomAD v4
2g.189008973C=CA1315405500COL3A1c.3476C= (p.Ala1159=)
c.3575C= (p.Ala1192=)
c.2666C= (p.Ala889=)
n.672C=
2g.189008973C>GCA349846664COL3A1c.3476C>G (p.Ala1159Gly)
c.3575C>G (p.Ala1192Gly)
c.2666C>G (p.Ala889Gly)
n.672C>G
2g.189008973C>TCA349846665COL3A1c.3476C>T (p.Ala1159Val)
c.3575C>T (p.Ala1192Val)
c.2666C>T (p.Ala889Val)
n.672C>T
 ClinVar gnomAD v4
2g.189008973_189008974insAGGGCA006688COL3A1c.3476_3477insAGGG (p.Pro1160GlyfsTer20)
c.3575_3576insAGGG (p.Pro1193GlyfsTer20)
c.2666_2667insAGGG (p.Pro890GlyfsTer20)
n.672_673insAGGG
 ClinVar dbSNP
2g.189008974C>ACA430406560COL3A1c.3477C>A (p.Ala1159=)
c.3576C>A (p.Ala1192=)
c.2667C>A (p.Ala889=)
n.673C>A
2g.189008974C=CA1315405501COL3A1c.3477C= (p.Ala1159=)
c.3576C= (p.Ala1192=)
c.2667C= (p.Ala889=)
n.673C=
2g.189008974C>GCA430406561COL3A1c.3477C>G (p.Ala1159=)
c.3576C>G (p.Ala1192=)
c.2667C>G (p.Ala889=)
n.673C>G
 ClinVar dbSNP
2g.189008974C>TCA076194COL3A1c.3477C>T (p.Ala1159=)
c.3576C>T (p.Ala1192=)
c.2667C>T (p.Ala889=)
n.673C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189008974_189008975insTGGTAGAGATGGAGTTAACGGTCTTAAAGGTGAACA2503472779COL3A1c.3477_3478insTGGTAGAGATGGAGTTAACGGTCTTAAAGGTGAA (p.Pro1160TrpfsTer2)
c.3576_3577insTGGTAGAGATGGAGTTAACGGTCTTAAAGGTGAA (p.Pro1193TrpfsTer2)
c.2667_2668insTGGTAGAGATGGAGTTAACGGTCTTAAAGGTGAA (p.Pro890TrpfsTer2)
n.673_674insTGGTAGAGATGGAGTTAACGGTCTTAAAGGTGAA
2g.189008975C>ACA349846668COL3A1c.3478C>A (p.Pro1160Thr)
c.3577C>A (p.Pro1193Thr)
c.2668C>A (p.Pro890Thr)
n.674C>A
 COSMIC COSMIC
2g.189008975C=CA1315405502COL3A1c.3478C= (p.Pro1160=)
c.3577C= (p.Pro1193=)
c.2668C= (p.Pro890=)
n.674C=
2g.189008975C>GCA349846667COL3A1c.3478C>G (p.Pro1160Ala)
c.3577C>G (p.Pro1193Ala)
c.2668C>G (p.Pro890Ala)
n.674C>G
 dbSNP gnomAD v3 gnomAD v4
2g.189008975C>TCA349846666COL3A1c.3478C>T (p.Pro1160Ser)
c.3577C>T (p.Pro1193Ser)
c.2668C>T (p.Pro890Ser)
n.674C>T
 ClinVar dbSNP
2g.189008976C>ACA349846669COL3A1c.3479C>A (p.Pro1160His)
c.3578C>A (p.Pro1193His)
c.2669C>A (p.Pro890His)
n.675C>A
2g.189008976C>GCA349846670COL3A1c.3479C>G (p.Pro1160Arg)
c.3578C>G (p.Pro1193Arg)
c.2669C>G (p.Pro890Arg)
n.675C>G
2g.189008976C>TCA349846671COL3A1c.3479C>T (p.Pro1160Leu)
c.3578C>T (p.Pro1193Leu)
c.2669C>T (p.Pro890Leu)
n.675C>T
2g.189008977T>ACA430406562COL3A1c.3480T>A (p.Pro1160=)
c.3579T>A (p.Pro1193=)
c.2670T>A (p.Pro890=)
n.676T>A
2g.189008977T>CCA430406563COL3A1c.3480T>C (p.Pro1160=)
c.3579T>C (p.Pro1193=)
c.2670T>C (p.Pro890=)
n.676T>C
2g.189008977T>GCA430406564COL3A1c.3480T>G (p.Pro1160=)
c.3579T>G (p.Pro1193=)
c.2670T>G (p.Pro890=)
n.676T>G
2g.189008978G>ACA349846672COL3A1c.3481G>A (p.Gly1161Ser)
c.3580G>A (p.Gly1194Ser)
c.2671G>A (p.Gly891Ser)
n.677G>A
2g.189008978G>CCA349846673COL3A1c.3481G>C (p.Gly1161Arg)
c.3580G>C (p.Gly1194Arg)
c.2671G>C (p.Gly891Arg)
n.677G>C
 ClinVar
2g.189008978G>TCA349846674COL3A1c.3481G>T (p.Gly1161Cys)
c.3580G>T (p.Gly1194Cys)
c.2671G>T (p.Gly891Cys)
n.677G>T
2g.189008979G>ACA349846675COL3A1c.3482G>A (p.Gly1161Asp)
c.3581G>A (p.Gly1194Asp)
c.2672G>A (p.Gly891Asp)
n.678G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.189008979G>CCA349846677COL3A1c.3482G>C (p.Gly1161Ala)
c.3581G>C (p.Gly1194Ala)
c.2672G>C (p.Gly891Ala)
n.678G>C
2g.189008979G=CA1315405503COL3A1c.3482G= (p.Gly1161=)
c.3581G= (p.Gly1194=)
c.2672G= (p.Gly891=)
n.678G=
2g.189008979G>TCA349846676COL3A1c.3482G>T (p.Gly1161Val)
c.3581G>T (p.Gly1194Val)
c.2672G>T (p.Gly891Val)
n.678G>T
2g.189008979_189008980insCAAAGATGGAAAGCCATTTACTTATGACATGTTCACATCGGAGCAATTAGAGGCCTTAAAAGGACCTAAAGGTGAACCTGGAACCA2542355045COL3A1c.3482_3483insCAAAGATGGAAAGCCATTTACTTATGACATGTTCACATCGGAGCAATTAGAGGCCTTAAAAGGACCTAAAGGTGAACCTGGAAC (p.Gly1161_Pro1162insLysAspGlyLysProPheThrTyrAspMetPheThrSerGluGlnLeuGluAlaLeuLysGlyProLysGlyGluProGlyThr)
c.3581_3582insCAAAGATGGAAAGCCATTTACTTATGACATGTTCACATCGGAGCAATTAGAGGCCTTAAAAGGACCTAAAGGTGAACCTGGAAC (p.Gly1194_Pro1195insLysAspGlyLysProPheThrTyrAspMetPheThrSerGluGlnLeuGluAlaLeuLysGlyProLysGlyGluProGlyThr)
c.2672_2673insCAAAGATGGAAAGCCATTTACTTATGACATGTTCACATCGGAGCAATTAGAGGCCTTAAAAGGACCTAAAGGTGAACCTGGAAC (p.Gly891_Pro892insLysAspGlyLysProPheThrTyrAspMetPheThrSerGluGlnLeuGluAlaLeuLysGlyProLysGlyGluProGlyThr)
n.678_679insCAAAGATGGAAAGCCATTTACTTATGACATGTTCACATCGGAGCAATTAGAGGCCTTAAAAGGACCTAAAGGTGAACCTGGAAC
2g.189008980T>ACA430406565COL3A1c.3483T>A (p.Gly1161=)
c.3582T>A (p.Gly1194=)
c.2673T>A (p.Gly891=)
n.679T>A
2g.189008980T>CCA430406566COL3A1c.3483T>C (p.Gly1161=)
c.3582T>C (p.Gly1194=)
c.2673T>C (p.Gly891=)
n.679T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189008980T>GCA430406567COL3A1c.3483T>G (p.Gly1161=)
c.3582T>G (p.Gly1194=)
c.2673T>G (p.Gly891=)
n.679T>G
2g.189008980T=CA1315405504COL3A1c.3483T= (p.Gly1161=)
c.3582T= (p.Gly1194=)
c.2673T= (p.Gly891=)
n.679T=
2g.189008981C>ACA349846678COL3A1c.3484C>A (p.Pro1162Thr)
c.3583C>A (p.Pro1195Thr)
c.2674C>A (p.Pro892Thr)
n.680C>A
2g.189008981C=CA1315405505COL3A1c.3484C= (p.Pro1162=)
c.3583C= (p.Pro1195=)
c.2674C= (p.Pro892=)
n.680C=
2g.189008981C>GCA349846679COL3A1c.3484C>G (p.Pro1162Ala)
c.3583C>G (p.Pro1195Ala)
c.2674C>G (p.Pro892Ala)
n.680C>G
2g.189008981C>TCA076195COL3A1c.3484C>T (p.Pro1162Ser)
c.3583C>T (p.Pro1195Ser)
c.2674C>T (p.Pro892Ser)
n.680C>T
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.189008982C>ACA349846680COL3A1c.3485C>A (p.Pro1162His)
c.3584C>A (p.Pro1195His)
c.2675C>A (p.Pro892His)
n.681C>A
2g.189008982C>GCA349846681COL3A1c.3485C>G (p.Pro1162Arg)
c.3584C>G (p.Pro1195Arg)
c.2675C>G (p.Pro892Arg)
n.681C>G
2g.189008982C>TCA349846682COL3A1c.3485C>T (p.Pro1162Leu)
c.3584C>T (p.Pro1195Leu)
c.2675C>T (p.Pro892Leu)
n.681C>T
 COSMIC COSMIC
2g.189008983T>ACA430406568COL3A1c.3486T>A (p.Pro1162=)
c.3585T>A (p.Pro1195=)
c.2676T>A (p.Pro892=)
n.682T>A
2g.189008983T>CCA430406569COL3A1c.3486T>C (p.Pro1162=)
c.3585T>C (p.Pro1195=)
c.2676T>C (p.Pro892=)
n.682T>C
2g.189008983T>GCA430406570COL3A1c.3486T>G (p.Pro1162=)
c.3585T>G (p.Pro1195=)
c.2676T>G (p.Pro892=)
n.682T>G
 COSMIC COSMIC
2g.189008984T>ACA349846683COL3A1c.3487T>A (p.Cys1163Ser)
c.3586T>A (p.Cys1196Ser)
c.2677T>A (p.Cys893Ser)
n.683T>A
2g.189008984T>CCA349846684COL3A1c.3487T>C (p.Cys1163Arg)
c.3586T>C (p.Cys1196Arg)
c.2677T>C (p.Cys893Arg)
n.683T>C
2g.189008984T>GCA349846685COL3A1c.3487T>G (p.Cys1163Gly)
c.3586T>G (p.Cys1196Gly)
c.2677T>G (p.Cys893Gly)
n.683T>G
2g.189008985G>ACA349846686COL3A1c.3488G>A (p.Cys1163Tyr)
c.3587G>A (p.Cys1196Tyr)
c.2678G>A (p.Cys893Tyr)
n.684G>A
2g.189008985G>CCA349846687COL3A1c.3488G>C (p.Cys1163Ser)
c.3587G>C (p.Cys1196Ser)
c.2678G>C (p.Cys893Ser)
n.684G>C
2g.189008985G>TCA349846688COL3A1c.3488G>T (p.Cys1163Phe)
c.3587G>T (p.Cys1196Phe)
c.2678G>T (p.Cys893Phe)
n.684G>T
 COSMIC COSMIC
2g.189008986C>ACA349846690COL3A1c.3489C>A (p.Cys1163Ter)
c.3588C>A (p.Cys1196Ter)
c.2679C>A (p.Cys893Ter)
n.685C>A
2g.189008986C=CA1315405506COL3A1c.3489C= (p.Cys1163=)
c.3588C= (p.Cys1196=)
c.2679C= (p.Cys893=)
n.685C=
2g.189008986C>GCA349846689COL3A1c.3489C>G (p.Cys1163Trp)
c.3588C>G (p.Cys1196Trp)
c.2679C>G (p.Cys893Trp)
n.685C>G
 dbSNP gnomAD v2 gnomAD v4
2g.189008986C>TCA430406571COL3A1c.3489C>T (p.Cys1163=)
c.3588C>T (p.Cys1196=)
c.2679C>T (p.Cys893=)
n.685C>T
2g.189008987T>ACA349846691COL3A1c.3490T>A (p.Cys1164Ser)
c.3589T>A (p.Cys1197Ser)
c.2680T>A (p.Cys894Ser)
n.686T>A
 ClinVar dbSNP COSMIC COSMIC
2g.189008987T>CCA349846693COL3A1c.3490T>C (p.Cys1164Arg)
c.3589T>C (p.Cys1197Arg)
c.2680T>C (p.Cys894Arg)
n.686T>C
2g.189008987T>GCA349846692COL3A1c.3490T>G (p.Cys1164Gly)
c.3589T>G (p.Cys1197Gly)
c.2680T>G (p.Cys894Gly)
n.686T>G
2g.189008988G>ACA349846694COL3A1c.3491G>A (p.Cys1164Tyr)
c.3590G>A (p.Cys1197Tyr)
c.2681G>A (p.Cys894Tyr)
n.687G>A
2g.189008988G>CCA349846695COL3A1c.3491G>C (p.Cys1164Ser)
c.3590G>C (p.Cys1197Ser)
c.2681G>C (p.Cys894Ser)
n.687G>C
 ClinVar dbSNP
2g.189008988G=CA1315405507COL3A1c.3491G= (p.Cys1164=)
c.3590G= (p.Cys1197=)
c.2681G= (p.Cys894=)
n.687G=
2g.189008988G>TCA349846696COL3A1c.3491G>T (p.Cys1164Phe)
c.3590G>T (p.Cys1197Phe)
c.2681G>T (p.Cys894Phe)
n.687G>T
 COSMIC COSMIC
2g.189008989T>ACA349846697COL3A1c.3492T>A (p.Cys1164Ter)
c.3591T>A (p.Cys1197Ter)
c.2682T>A (p.Cys894Ter)
n.688T>A
2g.189008989T>CCA430406572COL3A1c.3492T>C (p.Cys1164=)
c.3591T>C (p.Cys1197=)
c.2682T>C (p.Cys894=)
n.688T>C
2g.189008989T>GCA349846698COL3A1c.3492T>G (p.Cys1164Trp)
c.3591T>G (p.Cys1197Trp)
c.2682T>G (p.Cys894Trp)
n.688T>G
2g.189008990G>ACA349846699COL3A1c.3493G>A (p.Gly1165Ser)
c.3592G>A (p.Gly1198Ser)
c.2683G>A (p.Gly895Ser)
n.689G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189008990G>CCA349846700COL3A1c.3493G>C (p.Gly1165Arg)
c.3592G>C (p.Gly1198Arg)
c.2683G>C (p.Gly895Arg)
n.689G>C
2g.189008990G=CA1315405508COL3A1c.3493G= (p.Gly1165=)
c.3592G= (p.Gly1198=)
c.2683G= (p.Gly895=)
n.689G=
2g.189008990G>TCA349846701COL3A1c.3493G>T (p.Gly1165Cys)
c.3592G>T (p.Gly1198Cys)
c.2683G>T (p.Gly895Cys)
n.689G>T
2g.189008991G>ACA349846702COL3A1c.3494G>A (p.Gly1165Asp)
c.3593G>A (p.Gly1198Asp)
c.2684G>A (p.Gly895Asp)
n.690G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189008991G>CCA076197COL3A1c.3494G>C (p.Gly1165Ala)
c.3593G>C (p.Gly1198Ala)
c.2684G>C (p.Gly895Ala)
n.690G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189008991G=CA1315405509COL3A1c.3494G= (p.Gly1165=)
c.3593G= (p.Gly1198=)
c.2684G= (p.Gly895=)
n.690G=
2g.189008991G>TCA349846703COL3A1c.3494G>T (p.Gly1165Val)
c.3593G>T (p.Gly1198Val)
c.2684G>T (p.Gly895Val)
n.690G>T
2g.189008992T>ACA430406573COL3A1c.3495T>A (p.Gly1165=)
c.3594T>A (p.Gly1198=)
c.2685T>A (p.Gly895=)
n.691T>A
2g.189008992T>CCA430406574COL3A1c.3495T>C (p.Gly1165=)
c.3594T>C (p.Gly1198=)
c.2685T>C (p.Gly895=)
n.691T>C
2g.189008992T>GCA430406575COL3A1c.3495T>G (p.Gly1165=)
c.3594T>G (p.Gly1198=)
c.2685T>G (p.Gly895=)
n.691T>G
2g.189008993G>ACA349846706COL3A1c.3496G>A (p.Gly1166Ser)
c.3595G>A (p.Gly1199Ser)
c.2686G>A (p.Gly896Ser)
n.692G>A
 ClinVar dbSNP
2g.189008993G>CCA349846705COL3A1c.3496G>C (p.Gly1166Arg)
c.3595G>C (p.Gly1199Arg)
c.2686G>C (p.Gly896Arg)
n.692G>C
2g.189008993G>TCA349846704COL3A1c.3496G>T (p.Gly1166Cys)
c.3595G>T (p.Gly1199Cys)
c.2686G>T (p.Gly896Cys)
n.692G>T
2g.189008994G>ACA349846707COL3A1c.3497G>A (p.Gly1166Asp)
c.3596G>A (p.Gly1199Asp)
c.2687G>A (p.Gly896Asp)
n.693G>A
2g.189008994G>CCA349846708COL3A1c.3497G>C (p.Gly1166Ala)
c.3596G>C (p.Gly1199Ala)
c.2687G>C (p.Gly896Ala)
n.693G>C
2g.189008994G=CA1315405510COL3A1c.3497G= (p.Gly1166=)
c.3596G= (p.Gly1199=)
c.2687G= (p.Gly896=)
n.693G=
2g.189008994G>TCA349846709COL3A1c.3497G>T (p.Gly1166Val)
c.3596G>T (p.Gly1199Val)
c.2687G>T (p.Gly896Val)
n.693G>T
 ClinVar dbSNP
2g.189008994_189008995insGTGCA2753584205COL3A1c.3497_3498insGTG (p.Gly1166_Val1167insCys)
c.3596_3597insGTG (p.Gly1199_Val1200insCys)
c.2687_2688insGTG (p.Gly896_Val897insCys)
n.693_694insGTG
2g.189008994_189009001delinsGTGTTGGACA1315405511COL3A1c.3497_3504delinsGTGTTGGA (p.Gly1166=)
c.3596_3603delinsGTGTTGGA (p.Gly1199=)
c.2687_2694delinsGTGTTGGA (p.Gly896=)
n.693_700delinsGTGTTGGA
2g.189008995T>ACA430406576COL3A1c.3498T>A (p.Gly1166=)
c.3597T>A (p.Gly1199=)
c.2688T>A (p.Gly896=)
n.694T>A
2g.189008995T>CCA430406578COL3A1c.3498T>C (p.Gly1166=)
c.3597T>C (p.Gly1199=)
c.2688T>C (p.Gly896=)
n.694T>C
2g.189008995T>GCA430406577COL3A1c.3498T>G (p.Gly1166=)
c.3597T>G (p.Gly1199=)
c.2688T>G (p.Gly896=)
n.694T>G
2g.189008997_189008999delCA2662311425COL3A1c.3500_3502del (p.Val1167del)
c.3599_3601del (p.Val1200del)
c.2690_2692del (p.Val897del)
n.696_698del
 gnomAD v4
2g.189008995_189009001delCA1315405512COL3A1c.3498_3504del (p.Val1167ProfsTer?)
c.3597_3603del (p.Val1200ProfsTer?)
c.2688_2694del (p.Val897ProfsTer?)
n.694_700del
 dbSNP
2g.189008996G>ACA349846710COL3A1c.3499G>A (p.Val1167Ile)
c.3598G>A (p.Val1200Ile)
c.2689G>A (p.Val897Ile)
n.695G>A
2g.189008996G>CCA349846711COL3A1c.3499G>C (p.Val1167Leu)
c.3598G>C (p.Val1200Leu)
c.2689G>C (p.Val897Leu)
n.695G>C
2g.189008996G>TCA349846712COL3A1c.3499G>T (p.Val1167Phe)
c.3598G>T (p.Val1200Phe)
c.2689G>T (p.Val897Phe)
n.695G>T
2g.189008997T>ACA349846713COL3A1c.3500T>A (p.Val1167Asp)
c.3599T>A (p.Val1200Asp)
c.2690T>A (p.Val897Asp)
n.696T>A
2g.189008997T>CCA076199COL3A1c.3500T>C (p.Val1167Ala)
c.3599T>C (p.Val1200Ala)
c.2690T>C (p.Val897Ala)
n.696T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189008997T>GCA349846714COL3A1c.3500T>G (p.Val1167Gly)
c.3599T>G (p.Val1200Gly)
c.2690T>G (p.Val897Gly)
n.696T>G
2g.189008997T=CA1315405513COL3A1c.3500T= (p.Val1167=)
c.3599T= (p.Val1200=)
c.2690T= (p.Val897=)
n.696T=
2g.189008998T>ACA430406579COL3A1c.3501T>A (p.Val1167=)
c.3600T>A (p.Val1200=)
c.2691T>A (p.Val897=)
n.697T>A
2g.189008998T>CCA430406580COL3A1c.3501T>C (p.Val1167=)
c.3600T>C (p.Val1200=)
c.2691T>C (p.Val897=)
n.697T>C
2g.189008998T>GCA430406581COL3A1c.3501T>G (p.Val1167=)
c.3600T>G (p.Val1200=)
c.2691T>G (p.Val897=)
n.697T>G
 dbSNP
2g.189008998T=CA1315405514COL3A1c.3501T= (p.Val1167=)
c.3600T= (p.Val1200=)
c.2691T= (p.Val897=)
n.697T=
2g.189008999G>ACA349846715COL3A1c.3502G>A (p.Gly1168Arg)
c.3601G>A (p.Gly1201Arg)
c.2692G>A (p.Gly898Arg)
n.698G>A
 COSMIC COSMIC
2g.189008999G>CCA349846716COL3A1c.3502G>C (p.Gly1168Arg)
c.3601G>C (p.Gly1201Arg)
c.2692G>C (p.Gly898Arg)
n.698G>C
2g.189008999G>TCA349846717COL3A1c.3502G>T (p.Gly1168Ter)
c.3601G>T (p.Gly1201Ter)
c.2692G>T (p.Gly898Ter)
n.698G>T
2g.189008999_189009000delinsTTCA2697551459COL3A1c.3502_3503delinsTT (p.Gly1168Leu)
c.3601_3602delinsTT (p.Gly1201Leu)
c.2692_2693delinsTT (p.Gly898Leu)
n.698_699delinsTT
 ClinVar
2g.189009000G>ACA349846720COL3A1c.3503G>A (p.Gly1168Glu)
c.3602G>A (p.Gly1201Glu)
c.2693G>A (p.Gly898Glu)
n.699G>A
2g.189009000G>CCA349846719COL3A1c.3503G>C (p.Gly1168Ala)
c.3602G>C (p.Gly1201Ala)
c.2693G>C (p.Gly898Ala)
n.699G>C
2g.189009000G>TCA349846718COL3A1c.3503G>T (p.Gly1168Val)
c.3602G>T (p.Gly1201Val)
c.2693G>T (p.Gly898Val)
n.699G>T
 ClinVar
2g.189009001A>CCA430406582COL3A1c.3504A>C (p.Gly1168=)
c.3603A>C (p.Gly1201=)
c.2694A>C (p.Gly898=)
n.700A>C
2g.189009001A>GCA430406583COL3A1c.3504A>G (p.Gly1168=)
c.3603A>G (p.Gly1201=)
c.2694A>G (p.Gly898=)
n.700A>G
2g.189009001A>TCA430406584COL3A1c.3504A>T (p.Gly1168=)
c.3603A>T (p.Gly1201=)
c.2694A>T (p.Gly898=)
n.700A>T
2g.189009002G>ACA349846723COL3A1c.3505G>A (p.Ala1169Thr)
c.3604G>A (p.Ala1202Thr)
c.2695G>A (p.Ala899Thr)
n.701G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189009002G>CCA349846721COL3A1c.3505G>C (p.Ala1169Pro)
c.3604G>C (p.Ala1202Pro)
c.2695G>C (p.Ala899Pro)
n.701G>C
2g.189009002G=CA1315405515COL3A1c.3505G= (p.Ala1169=)
c.3604G= (p.Ala1202=)
c.2695G= (p.Ala899=)
n.701G=
2g.189009002G>TCA349846722COL3A1c.3505G>T (p.Ala1169Ser)
c.3604G>T (p.Ala1202Ser)
c.2695G>T (p.Ala899Ser)
n.701G>T
 ClinVar dbSNP
2g.189009003C>ACA349846724COL3A1c.3506C>A (p.Ala1169Asp)
c.3605C>A (p.Ala1202Asp)
c.2696C>A (p.Ala899Asp)
n.702C>A
2g.189009003C=CA1315405516COL3A1c.3506C= (p.Ala1169=)
c.3605C= (p.Ala1202=)
c.2696C= (p.Ala899=)
n.702C=
2g.189009003C>GCA076201COL3A1c.3506C>G (p.Ala1169Gly)
c.3605C>G (p.Ala1202Gly)
c.2696C>G (p.Ala899Gly)
n.702C>G
 dbSNP ExAC gnomAD v2
2g.189009003C>TCA349846725COL3A1c.3506C>T (p.Ala1169Val)
c.3605C>T (p.Ala1202Val)
c.2696C>T (p.Ala899Val)
n.702C>T
 COSMIC COSMIC
2g.189009004C>ACA430406585COL3A1c.3507C>A (p.Ala1169=)
c.3606C>A (p.Ala1202=)
c.2697C>A (p.Ala899=)
n.703C>A
2g.189009004C=CA1315405517COL3A1c.3507C= (p.Ala1169=)
c.3606C= (p.Ala1202=)
c.2697C= (p.Ala899=)
n.703C=
2g.189009004C>GCA430406586COL3A1c.3507C>G (p.Ala1169=)
c.3606C>G (p.Ala1202=)
c.2697C>G (p.Ala899=)
n.703C>G
2g.189009004C>TCA076203COL3A1c.3507C>T (p.Ala1169=)
c.3606C>T (p.Ala1202=)
c.2697C>T (p.Ala899=)
n.703C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189009004_189009005insTCA1315405519COL3A1c.3507_3508insT (p.Ala1170CysfsTer9)
c.3606_3607insT (p.Ala1203CysfsTer9)
c.2697_2698insT (p.Ala900CysfsTer9)
n.703_704insT
 dbSNP
2g.189009005G>ACA076205COL3A1c.3508G>A (p.Ala1170Thr)
c.3607G>A (p.Ala1203Thr)
c.2698G>A (p.Ala900Thr)
n.704G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189009005G>CCA349846726COL3A1c.3508G>C (p.Ala1170Pro)
c.3607G>C (p.Ala1203Pro)
c.2698G>C (p.Ala900Pro)
n.704G>C
 dbSNP gnomAD v2 gnomAD v4
2g.189009005G=CA1315405518COL3A1c.3508G= (p.Ala1170=)
c.3607G= (p.Ala1203=)
c.2698G= (p.Ala900=)
n.704G=
2g.189009005G>TCA349846727COL3A1c.3508G>T (p.Ala1170Ser)
c.3607G>T (p.Ala1203Ser)
c.2698G>T (p.Ala900Ser)
n.704G>T
 gnomAD v4 COSMIC COSMIC
2g.189009006C>ACA349846728COL3A1c.3509C>A (p.Ala1170Asp)
c.3608C>A (p.Ala1203Asp)
c.2699C>A (p.Ala900Asp)
n.705C>A
2g.189009006C=CA1315405520COL3A1c.3509C= (p.Ala1170=)
c.3608C= (p.Ala1203=)
c.2699C= (p.Ala900=)
n.705C=
2g.189009006C>GCA349846729COL3A1c.3509C>G (p.Ala1170Gly)
c.3608C>G (p.Ala1203Gly)
c.2699C>G (p.Ala900Gly)
n.705C>G
 gnomAD v4
2g.189009006C>TCA349846730COL3A1c.3509C>T (p.Ala1170Val)
c.3608C>T (p.Ala1203Val)
c.2699C>T (p.Ala900Val)
n.705C>T
 dbSNP gnomAD v2 gnomAD v4
2g.189009007T>ACA430406587COL3A1c.3510T>A (p.Ala1170=)
c.3609T>A (p.Ala1203=)
c.2700T>A (p.Ala900=)
n.706T>A
2g.189009007T>CCA430406589COL3A1c.3510T>C (p.Ala1170=)
c.3609T>C (p.Ala1203=)
c.2700T>C (p.Ala900=)
n.706T>C
2g.189009007T>GCA430406588COL3A1c.3510T>G (p.Ala1170=)
c.3609T>G (p.Ala1203=)
c.2700T>G (p.Ala900=)
n.706T>G
2g.189009008G>ACA349846733COL3A1c.3511G>A (p.Ala1171Thr)
c.3610G>A (p.Ala1204Thr)
c.2701G>A (p.Ala901Thr)
n.707G>A
2g.189009008G>CCA349846732COL3A1c.3511G>C (p.Ala1171Pro)
c.3610G>C (p.Ala1204Pro)
c.2701G>C (p.Ala901Pro)
n.707G>C
2g.189009008G>TCA349846731COL3A1c.3511G>T (p.Ala1171Ser)
c.3610G>T (p.Ala1204Ser)
c.2701G>T (p.Ala901Ser)
n.707G>T
 COSMIC COSMIC
2g.189009009C>ACA349846734COL3A1c.3512C>A (p.Ala1171Asp)
c.3611C>A (p.Ala1204Asp)
c.2702C>A (p.Ala901Asp)
n.708C>A
2g.189009009C>GCA349846735COL3A1c.3512C>G (p.Ala1171Gly)
c.3611C>G (p.Ala1204Gly)
c.2702C>G (p.Ala901Gly)
n.708C>G
2g.189009009C>TCA349846736COL3A1c.3512C>T (p.Ala1171Val)
c.3611C>T (p.Ala1204Val)
c.2702C>T (p.Ala901Val)
n.708C>T
 ClinVar gnomAD v4
2g.189009010C>ACA430406590COL3A1c.3513C>A (p.Ala1171=)
c.3612C>A (p.Ala1204=)
c.2703C>A (p.Ala901=)
n.709C>A
2g.189009010C>GCA430406591COL3A1c.3513C>G (p.Ala1171=)
c.3612C>G (p.Ala1204=)
c.2703C>G (p.Ala901=)
n.709C>G
2g.189009010C>TCA430406592COL3A1c.3513C>T (p.Ala1171=)
c.3612C>T (p.Ala1204=)
c.2703C>T (p.Ala901=)
n.709C>T
2g.189009011A=CA1315405521COL3A1c.3514A= (p.Ile1172=)
c.3613A= (p.Ile1205=)
c.2704A= (p.Ile902=)
n.710A=
2g.189009011A>CCA349846737COL3A1c.3514A>C (p.Ile1172Leu)
c.3613A>C (p.Ile1205Leu)
c.2704A>C (p.Ile902Leu)
n.710A>C
2g.189009011A>GCA006694COL3A1c.3514A>G (p.Ile1172Val)
c.3613A>G (p.Ile1205Val)
c.2704A>G (p.Ile902Val)
n.710A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189009011A>TCA349846738COL3A1c.3514A>T (p.Ile1172Phe)
c.3613A>T (p.Ile1205Phe)
c.2704A>T (p.Ile902Phe)
n.710A>T
2g.189009012T>ACA349846739COL3A1c.3515T>A (p.Ile1172Asn)
c.3614T>A (p.Ile1205Asn)
c.2705T>A (p.Ile902Asn)
n.711T>A
2g.189009012T>CCA349846740COL3A1c.3515T>C (p.Ile1172Thr)
c.3614T>C (p.Ile1205Thr)
c.2705T>C (p.Ile902Thr)
n.711T>C
2g.189009012T>GCA349846741COL3A1c.3515T>G (p.Ile1172Ser)
c.3614T>G (p.Ile1205Ser)
c.2705T>G (p.Ile902Ser)
n.711T>G
2g.189009013T>ACA430406593COL3A1c.3516T>A (p.Ile1172=)
c.3615T>A (p.Ile1205=)
c.2706T>A (p.Ile902=)
n.712T>A
2g.189009013T>CCA430406594COL3A1c.3516T>C (p.Ile1172=)
c.3615T>C (p.Ile1205=)
c.2706T>C (p.Ile902=)
n.712T>C
 ClinVar
2g.189009013T>GCA349846742COL3A1c.3516T>G (p.Ile1172Met)
c.3615T>G (p.Ile1205Met)
c.2706T>G (p.Ile902Met)
n.712T>G
2g.189009014G>ACA349846743COL3A1c.3517G>A (p.Ala1173Thr)
c.3616G>A (p.Ala1206Thr)
c.2707G>A (p.Ala903Thr)
n.713G>A
2g.189009014G>CCA349846744COL3A1c.3517G>C (p.Ala1173Pro)
c.3616G>C (p.Ala1206Pro)
c.2707G>C (p.Ala903Pro)
n.713G>C
2g.189009014G>TCA349846745COL3A1c.3517G>T (p.Ala1173Ser)
c.3616G>T (p.Ala1206Ser)
c.2707G>T (p.Ala903Ser)
n.713G>T
 ClinVar dbSNP
2g.189009015C>ACA349846747COL3A1c.3518C>A (p.Ala1173Asp)
c.3617C>A (p.Ala1206Asp)
c.2708C>A (p.Ala903Asp)
n.714C>A
2g.189009015C>GCA349846748COL3A1c.3518C>G (p.Ala1173Gly)
c.3617C>G (p.Ala1206Gly)
c.2708C>G (p.Ala903Gly)
n.714C>G
2g.189009015C>TCA349846746COL3A1c.3518C>T (p.Ala1173Val)
c.3617C>T (p.Ala1206Val)
c.2708C>T (p.Ala903Val)
n.714C>T
 ClinVar
2g.189009016T>ACA430406597COL3A1c.3519T>A (p.Ala1173=)
c.3618T>A (p.Ala1206=)
c.2709T>A (p.Ala903=)
n.715T>A
2g.189009016T>CCA430406596COL3A1c.3519T>C (p.Ala1173=)
c.3618T>C (p.Ala1206=)
c.2709T>C (p.Ala903=)
n.715T>C
2g.189009016T>GCA430406595COL3A1c.3519T>G (p.Ala1173=)
c.3618T>G (p.Ala1206=)
c.2709T>G (p.Ala903=)
n.715T>G
2g.189009017G>ACA62562756COL3A1c.3520G>A (p.Gly1174Arg)
c.3619G>A (p.Gly1207Arg)
c.2710G>A (p.Gly904Arg)
n.716G>A
 ClinVar dbSNP
2g.189009017G>CCA349846750COL3A1c.3520G>C (p.Gly1174Arg)
c.3619G>C (p.Gly1207Arg)
c.2710G>C (p.Gly904Arg)
n.716G>C
2g.189009017G=CA1315405522COL3A1c.3520G= (p.Gly1174=)
c.3619G= (p.Gly1207=)
c.2710G= (p.Gly904=)
n.716G=
2g.189009017G>TCA349846749COL3A1c.3520G>T (p.Gly1174Trp)
c.3619G>T (p.Gly1207Trp)
c.2710G>T (p.Gly904Trp)
n.716G>T
 COSMIC COSMIC
2g.189009018G>ACA349846751COL3A1c.3521G>A (p.Gly1174Glu)
c.3620G>A (p.Gly1207Glu)
c.2711G>A (p.Gly904Glu)
n.717G>A
2g.189009018G>CCA349846753COL3A1c.3521G>C (p.Gly1174Ala)
c.3620G>C (p.Gly1207Ala)
c.2711G>C (p.Gly904Ala)
n.717G>C
 dbSNP gnomAD v4
2g.189009018G=CA1315405523COL3A1c.3521G= (p.Gly1174=)
c.3620G= (p.Gly1207=)
c.2711G= (p.Gly904=)
n.717G=
2g.189009018G>TCA349846752COL3A1c.3521G>T (p.Gly1174Val)
c.3620G>T (p.Gly1207Val)
c.2711G>T (p.Gly904Val)
n.717G>T
2g.189009019G>ACA430406598COL3A1c.3522G>A (p.Gly1174=)
c.3621G>A (p.Gly1207=)
c.2712G>A (p.Gly904=)
n.718G>A
2g.189009019G>CCA430406599COL3A1c.3522G>C (p.Gly1174=)
c.3621G>C (p.Gly1207=)
c.2712G>C (p.Gly904=)
n.718G>C
2g.189009019G>TCA430406600COL3A1c.3522G>T (p.Gly1174=)
c.3621G>T (p.Gly1207=)
c.2712G>T (p.Gly904=)
n.718G>T
 gnomAD v4
2g.189009020A>CCA349846754COL3A1c.3523A>C (p.Ile1175Leu)
c.3622A>C (p.Ile1208Leu)
c.2713A>C (p.Ile905Leu)
n.719A>C
2g.189009020A>GCA349846755COL3A1c.3523A>G (p.Ile1175Val)
c.3622A>G (p.Ile1208Val)
c.2713A>G (p.Ile905Val)
n.719A>G
2g.189009020A>TCA349846756COL3A1c.3523A>T (p.Ile1175Phe)
c.3622A>T (p.Ile1208Phe)
c.2713A>T (p.Ile905Phe)
n.719A>T
2g.189009021T>ACA349846757COL3A1c.3524T>A (p.Ile1175Asn)
c.3623T>A (p.Ile1208Asn)
c.2714T>A (p.Ile905Asn)
n.720T>A
2g.189009021T>CCA349846758COL3A1c.3524T>C (p.Ile1175Thr)
c.3623T>C (p.Ile1208Thr)
c.2714T>C (p.Ile905Thr)
n.720T>C
 dbSNP gnomAD v4
2g.189009021T>GCA349846759COL3A1c.3524T>G (p.Ile1175Ser)
c.3623T>G (p.Ile1208Ser)
c.2714T>G (p.Ile905Ser)
n.720T>G
2g.189009022T>ACA430406601COL3A1c.3525T>A (p.Ile1175=)
c.3624T>A (p.Ile1208=)
c.2715T>A (p.Ile905=)
n.721T>A
 gnomAD v4
2g.189009022T>CCA430406602COL3A1c.3525T>C (p.Ile1175=)
c.3624T>C (p.Ile1208=)
c.2715T>C (p.Ile905=)
n.721T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189009022T>GCA349846760COL3A1c.3525T>G (p.Ile1175Met)
c.3624T>G (p.Ile1208Met)
c.2715T>G (p.Ile905Met)
n.721T>G
2g.189009022T=CA1315405524COL3A1c.3525T= (p.Ile1175=)
c.3624T= (p.Ile1208=)
c.2715T= (p.Ile905=)
n.721T=
2g.189009023G>ACA62562761COL3A1c.3526G>A (p.Gly1176Arg)
c.3625G>A (p.Gly1209Arg)
c.2716G>A (p.Gly906Arg)
n.722G>A
 dbSNP gnomAD v3 gnomAD v4
2g.189009023G>CCA349846761COL3A1c.3526G>C (p.Gly1176Arg)
c.3625G>C (p.Gly1209Arg)
c.2716G>C (p.Gly906Arg)
n.722G>C
 gnomAD v4
2g.189009023G=CA1315405525COL3A1c.3526G= (p.Gly1176=)
c.3625G= (p.Gly1209=)
c.2716G= (p.Gly906=)
n.722G=
2g.189009023G>TCA349846762COL3A1c.3526G>T (p.Gly1176Ter)
c.3625G>T (p.Gly1209Ter)
c.2716G>T (p.Gly906Ter)
n.722G>T
2g.189009024G>ACA076208COL3A1c.3527G>A (p.Gly1176Glu)
c.3626G>A (p.Gly1209Glu)
c.2717G>A (p.Gly906Glu)
n.723G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189009024G>CCA076211COL3A1c.3527G>C (p.Gly1176Ala)
c.3626G>C (p.Gly1209Ala)
c.2717G>C (p.Gly906Ala)
n.723G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189009024G=CA1315405526COL3A1c.3527G= (p.Gly1176=)
c.3626G= (p.Gly1209=)
c.2717G= (p.Gly906=)
n.723G=
2g.189009024G>TCA349846763COL3A1c.3527G>T (p.Gly1176Val)
c.3626G>T (p.Gly1209Val)
c.2717G>T (p.Gly906Val)
n.723G>T
2g.189009025A>CCA430406603COL3A1c.3528A>C (p.Gly1176=)
c.3627A>C (p.Gly1209=)
c.2718A>C (p.Gly906=)
n.724A>C
2g.189009025A>GCA430406604COL3A1c.3528A>G (p.Gly1176=)
c.3627A>G (p.Gly1209=)
c.2718A>G (p.Gly906=)
n.724A>G
2g.189009025A>TCA430406605COL3A1c.3528A>T (p.Gly1176=)
c.3627A>T (p.Gly1209=)
c.2718A>T (p.Gly906=)
n.724A>T
2g.189009026G>ACA349846764COL3A1c.3529G>A (p.Gly1177Ser)
c.3628G>A (p.Gly1210Ser)
c.2719G>A (p.Gly907Ser)
n.725G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189009026G>CCA349846766COL3A1c.3529G>C (p.Gly1177Arg)
c.3628G>C (p.Gly1210Arg)
c.2719G>C (p.Gly907Arg)
n.725G>C
2g.189009026G=CA1315405527COL3A1c.3529G= (p.Gly1177=)
c.3628G= (p.Gly1210=)
c.2719G= (p.Gly907=)
n.725G=
2g.189009026G>TCA349846765COL3A1c.3529G>T (p.Gly1177Cys)
c.3628G>T (p.Gly1210Cys)
c.2719G>T (p.Gly907Cys)
n.725G>T
2g.189009027G>ACA076213COL3A1c.3530G>A (p.Gly1177Asp)
c.3629G>A (p.Gly1210Asp)
c.2720G>A (p.Gly907Asp)
n.726G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189009027G>CCA349846768COL3A1c.3530G>C (p.Gly1177Ala)
c.3629G>C (p.Gly1210Ala)
c.2720G>C (p.Gly907Ala)
n.726G>C
2g.189009027G=CA1315405528COL3A1c.3530G= (p.Gly1177=)
c.3629G= (p.Gly1210=)
c.2720G= (p.Gly907=)
n.726G=
2g.189009027G>TCA349846770COL3A1c.3530G>T (p.Gly1177Val)
c.3629G>T (p.Gly1210Val)
c.2720G>T (p.Gly907Val)
n.726G>T
 gnomAD v4
2g.189009028T>ACA430406222COL3A1c.3531T>A (p.Gly1177=)
c.3630T>A (p.Gly1210=)
c.2721T>A (p.Gly907=)
n.727T>A
 COSMIC COSMIC
2g.189009028T>CCA430406223COL3A1c.3531T>C (p.Gly1177=)
c.3630T>C (p.Gly1210=)
c.2721T>C (p.Gly907=)
n.727T>C
2g.189009028T>GCA076215COL3A1c.3531T>G (p.Gly1177=)
c.3630T>G (p.Gly1210=)
c.2721T>G (p.Gly907=)
n.727T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189009028T=CA1315405529COL3A1c.3531T= (p.Gly1177=)
c.3630T= (p.Gly1210=)
c.2721T= (p.Gly907=)
n.727T=
2g.189009029G>ACA349846775COL3A1c.3532G>A (p.Glu1178Lys)
c.3631G>A (p.Glu1211Lys)
c.2722G>A (p.Glu908Lys)
n.728G>A
 gnomAD v4
2g.189009029G>CCA349846777COL3A1c.3532G>C (p.Glu1178Gln)
c.3631G>C (p.Glu1211Gln)
c.2722G>C (p.Glu908Gln)
n.728G>C
2g.189009029G>TCA349846778COL3A1c.3532G>T (p.Glu1178Ter)
c.3631G>T (p.Glu1211Ter)
c.2722G>T (p.Glu908Ter)
n.728G>T
2g.189009030A>CCA349846781COL3A1c.3533A>C (p.Glu1178Ala)
c.3632A>C (p.Glu1211Ala)
c.2723A>C (p.Glu908Ala)
n.729A>C
2g.189009030A>GCA349846782COL3A1c.3533A>G (p.Glu1178Gly)
c.3632A>G (p.Glu1211Gly)
c.2723A>G (p.Glu908Gly)
n.729A>G
 gnomAD v4
2g.189009030A>TCA349846785COL3A1c.3533A>T (p.Glu1178Val)
c.3632A>T (p.Glu1211Val)
c.2723A>T (p.Glu908Val)
n.729A>T
2g.189009034delCA2662311426COL3A1c.3537del (p.Ala1180LeufsTer23)
c.3636del (p.Ala1213LeufsTer23)
c.2727del (p.Ala910LeufsTer23)
n.733del
 gnomAD v4
2g.189009031A>CCA349846788COL3A1c.3534A>C (p.Glu1178Asp)
c.3633A>C (p.Glu1211Asp)
c.2724A>C (p.Glu908Asp)
n.730A>C
2g.189009031A>GCA430406224COL3A1c.3534A>G (p.Glu1178=)
c.3633A>G (p.Glu1211=)
c.2724A>G (p.Glu908=)
n.730A>G
2g.189009031A>TCA349846789COL3A1c.3534A>T (p.Glu1178Asp)
c.3633A>T (p.Glu1211Asp)
c.2724A>T (p.Glu908Asp)
n.730A>T
2g.189009032A>CCA349846793COL3A1c.3535A>C (p.Lys1179Gln)
c.3634A>C (p.Lys1212Gln)
c.2725A>C (p.Lys909Gln)
n.731A>C
2g.189009032A>GCA349846795COL3A1c.3535A>G (p.Lys1179Glu)
c.3634A>G (p.Lys1212Glu)
c.2725A>G (p.Lys909Glu)
n.731A>G
2g.189009032A>TCA349846797COL3A1c.3535A>T (p.Lys1179Ter)
c.3634A>T (p.Lys1212Ter)
c.2725A>T (p.Lys909Ter)
n.731A>T
2g.189009033A>CCA349846800COL3A1c.3536A>C (p.Lys1179Thr)
c.3635A>C (p.Lys1212Thr)
c.2726A>C (p.Lys909Thr)
n.732A>C
2g.189009033A>GCA349846801COL3A1c.3536A>G (p.Lys1179Arg)
c.3635A>G (p.Lys1212Arg)
c.2726A>G (p.Lys909Arg)
n.732A>G
2g.189009033A>TCA349846803COL3A1c.3536A>T (p.Lys1179Ile)
c.3635A>T (p.Lys1212Ile)
c.2726A>T (p.Lys909Ile)
n.732A>T
2g.189009034A=CA1315405530COL3A1c.3537A= (p.Lys1179=)
c.3636A= (p.Lys1212=)
c.2727A= (p.Lys909=)
n.733A=
2g.189009034A>CCA349846805COL3A1c.3537A>C (p.Lys1179Asn)
c.3636A>C (p.Lys1212Asn)
c.2727A>C (p.Lys909Asn)
n.733A>C
2g.189009034A>GCA430406225COL3A1c.3537A>G (p.Lys1179=)
c.3636A>G (p.Lys1212=)
c.2727A>G (p.Lys909=)
n.733A>G
 dbSNP
2g.189009034A>TCA349846808COL3A1c.3537A>T (p.Lys1179Asn)
c.3636A>T (p.Lys1212Asn)
c.2727A>T (p.Lys909Asn)
n.733A>T
2g.189009035G>ACA349846810COL3A1c.3538G>A (p.Ala1180Thr)
c.3637G>A (p.Ala1213Thr)
c.2728G>A (p.Ala910Thr)
n.734G>A
2g.189009035G>CCA349846811COL3A1c.3538G>C (p.Ala1180Pro)
c.3637G>C (p.Ala1213Pro)
c.2728G>C (p.Ala910Pro)
n.734G>C
 ClinVar dbSNP gnomAD v4
2g.189009035G=CA1315405531COL3A1c.3538G= (p.Ala1180=)
c.3637G= (p.Ala1213=)
c.2728G= (p.Ala910=)
n.734G=
2g.189009035G>TCA349846813COL3A1c.3538G>T (p.Ala1180Ser)
c.3637G>T (p.Ala1213Ser)
c.2728G>T (p.Ala910Ser)
n.734G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.189009036C>ACA349846821COL3A1c.3539C>A (p.Ala1180Asp)
c.3638C>A (p.Ala1213Asp)
c.2729C>A (p.Ala910Asp)
n.735C>A
2g.189009036C=CA1315405532COL3A1c.3539C= (p.Ala1180=)
c.3638C= (p.Ala1213=)
c.2729C= (p.Ala910=)
n.735C=
2g.189009036C>GCA349846819COL3A1c.3539C>G (p.Ala1180Gly)
c.3638C>G (p.Ala1213Gly)
c.2729C>G (p.Ala910Gly)
n.735C>G
2g.189009036C>TCA349846816COL3A1c.3539C>T (p.Ala1180Val)
c.3638C>T (p.Ala1213Val)
c.2729C>T (p.Ala910Val)
n.735C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189009037T>ACA430406226COL3A1c.3540T>A (p.Ala1180=)
c.3639T>A (p.Ala1213=)
c.2730T>A (p.Ala910=)
n.736T>A
2g.189009037T>CCA430406228COL3A1c.3540T>C (p.Ala1180=)
c.3639T>C (p.Ala1213=)
c.2730T>C (p.Ala910=)
n.736T>C
2g.189009037T>GCA430406227COL3A1c.3540T>G (p.Ala1180=)
c.3639T>G (p.Ala1213=)
c.2730T>G (p.Ala910=)
n.736T>G
2g.189009038G>ACA349846825COL3A1c.3541G>A (p.Gly1181Ser)
c.3640G>A (p.Gly1214Ser)
c.2731G>A (p.Gly911Ser)
n.737G>A
 ClinVar
2g.189009038G>CCA349846828COL3A1c.3541G>C (p.Gly1181Arg)
c.3640G>C (p.Gly1214Arg)
c.2731G>C (p.Gly911Arg)
n.737G>C
2g.189009038G>TCA349846830COL3A1c.3541G>T (p.Gly1181Cys)
c.3640G>T (p.Gly1214Cys)
c.2731G>T (p.Gly911Cys)
n.737G>T
2g.189009039G>ACA349846833COL3A1c.3542G>A (p.Gly1181Asp)
c.3641G>A (p.Gly1214Asp)
c.2732G>A (p.Gly911Asp)
n.738G>A
2g.189009039G>CCA349846835COL3A1c.3542G>C (p.Gly1181Ala)
c.3641G>C (p.Gly1214Ala)
c.2732G>C (p.Gly911Ala)
n.738G>C
 gnomAD v4
2g.189009039G>TCA349846837COL3A1c.3542G>T (p.Gly1181Val)
c.3641G>T (p.Gly1214Val)
c.2732G>T (p.Gly911Val)
n.738G>T
 COSMIC COSMIC
2g.189009040C>ACA006702COL3A1c.3543C>A (p.Gly1181=)
c.3642C>A (p.Gly1214=)
c.2733C>A (p.Gly911=)
n.739C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189009040C=CA1315405533COL3A1c.3543C= (p.Gly1181=)
c.3642C= (p.Gly1214=)
c.2733C= (p.Gly911=)
n.739C=
2g.189009040C>GCA430406229COL3A1c.3543C>G (p.Gly1181=)
c.3642C>G (p.Gly1214=)
c.2733C>G (p.Gly911=)
n.739C>G
2g.189009040C>TCA076218COL3A1c.3543C>T (p.Gly1181=)
c.3642C>T (p.Gly1214=)
c.2733C>T (p.Gly911=)
n.739C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.189009041G>ACA076221COL3A1c.3544G>A (p.Gly1182Ser)
c.3643G>A (p.Gly1215Ser)
c.2734G>A (p.Gly912Ser)
n.740G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189009041G>CCA349846846COL3A1c.3544G>C (p.Gly1182Arg)
c.3643G>C (p.Gly1215Arg)
c.2734G>C (p.Gly912Arg)
n.740G>C
2g.189009041G=CA1315405534COL3A1c.3544G= (p.Gly1182=)
c.3643G= (p.Gly1215=)
c.2734G= (p.Gly912=)
n.740G=
2g.189009041G>TCA349846849COL3A1c.3544G>T (p.Gly1182Cys)
c.3643G>T (p.Gly1215Cys)
c.2734G>T (p.Gly912Cys)
n.740G>T
2g.189009042dupCA62562847COL3A1c.3545dup (p.Ala1184CysfsTer7)
c.3644dup (p.Ala1217CysfsTer7)
c.2735dup (p.Ala914CysfsTer7)
n.741dup
 dbSNP
2g.189009042G>ACA62562852COL3A1c.3545G>A (p.Gly1182Asp)
c.3644G>A (p.Gly1215Asp)
c.2735G>A (p.Gly912Asp)
n.741G>A
 dbSNP gnomAD v2 gnomAD v4
2g.189009042G>CCA349846854COL3A1c.3545G>C (p.Gly1182Ala)
c.3644G>C (p.Gly1215Ala)
c.2735G>C (p.Gly912Ala)
n.741G>C
2g.189009042G=CA1315405535COL3A1c.3545G= (p.Gly1182=)
c.3644G= (p.Gly1215=)
c.2735G= (p.Gly912=)
n.741G=
2g.189009042G>TCA349846851COL3A1c.3545G>T (p.Gly1182Val)
c.3644G>T (p.Gly1215Val)
c.2735G>T (p.Gly912Val)
n.741G>T
2g.189009043T>ACA430406230COL3A1c.3546T>A (p.Gly1182=)
c.3645T>A (p.Gly1215=)
c.2736T>A (p.Gly912=)
n.742T>A
2g.189009043T>CCA430406231COL3A1c.3546T>C (p.Gly1182=)
c.3645T>C (p.Gly1215=)
c.2736T>C (p.Gly912=)
n.742T>C
 dbSNP
2g.189009043T>GCA430406232COL3A1c.3546T>G (p.Gly1182=)
c.3645T>G (p.Gly1215=)
c.2736T>G (p.Gly912=)
n.742T>G
 dbSNP
2g.189009043T=CA1315405536COL3A1c.3546T= (p.Gly1182=)
c.3645T= (p.Gly1215=)
c.2736T= (p.Gly912=)
n.742T=
2g.189009044T>ACA349846859COL3A1c.3547T>A (p.Phe1183Ile)
c.3646T>A (p.Phe1216Ile)
c.2737T>A (p.Phe913Ile)
n.743T>A
2g.189009044T>CCA349846861COL3A1c.3547T>C (p.Phe1183Leu)
c.3646T>C (p.Phe1216Leu)
c.2737T>C (p.Phe913Leu)
n.743T>C
2g.189009044T>GCA349846864COL3A1c.3547T>G (p.Phe1183Val)
c.3646T>G (p.Phe1216Val)
c.2737T>G (p.Phe913Val)
n.743T>G
2g.189009045T>ACA349846868COL3A1c.3548T>A (p.Phe1183Tyr)
c.3647T>A (p.Phe1216Tyr)
c.2738T>A (p.Phe913Tyr)
n.744T>A
2g.189009045T>CCA349846870COL3A1c.3548T>C (p.Phe1183Ser)
c.3647T>C (p.Phe1216Ser)
c.2738T>C (p.Phe913Ser)
n.744T>C
2g.189009045T>GCA349846872COL3A1c.3548T>G (p.Phe1183Cys)
c.3647T>G (p.Phe1216Cys)
c.2738T>G (p.Phe913Cys)
n.744T>G
2g.189009046T>ACA349846877COL3A1c.3549T>A (p.Phe1183Leu)
c.3648T>A (p.Phe1216Leu)
c.2739T>A (p.Phe913Leu)
n.745T>A
2g.189009046T>CCA430406233COL3A1c.3549T>C (p.Phe1183=)
c.3648T>C (p.Phe1216=)
c.2739T>C (p.Phe913=)
n.745T>C
2g.189009046T>GCA349846875COL3A1c.3549T>G (p.Phe1183Leu)
c.3648T>G (p.Phe1216Leu)
c.2739T>G (p.Phe913Leu)
n.745T>G
2g.189009047G>ACA349846880COL3A1c.3550G>A (p.Ala1184Thr)
c.3649G>A (p.Ala1217Thr)
c.2740G>A (p.Ala914Thr)
n.746G>A
2g.189009047G>CCA62562856COL3A1c.3550G>C (p.Ala1184Pro)
c.3649G>C (p.Ala1217Pro)
c.2740G>C (p.Ala914Pro)
n.746G>C
 dbSNP
2g.189009047G=CA1315405537COL3A1c.3550G= (p.Ala1184=)
c.3649G= (p.Ala1217=)
c.2740G= (p.Ala914=)
n.746G=
2g.189009047G>TCA076222COL3A1c.3550G>T (p.Ala1184Ser)
c.3649G>T (p.Ala1217Ser)
c.2740G>T (p.Ala914Ser)
n.746G>T
 dbSNP ExAC gnomAD v2 COSMIC COSMIC
2g.189009048C>ACA349846883COL3A1c.3551C>A (p.Ala1184Asp)
c.3650C>A (p.Ala1217Asp)
c.2741C>A (p.Ala914Asp)
n.747C>A
2g.189009048C=CA1315405538COL3A1c.3551C= (p.Ala1184=)
c.3650C= (p.Ala1217=)
c.2741C= (p.Ala914=)
n.747C=
2g.189009048C>GCA349846886COL3A1c.3551C>G (p.Ala1184Gly)
c.3650C>G (p.Ala1217Gly)
c.2741C>G (p.Ala914Gly)
n.747C>G
2g.189009048C>TCA62562882COL3A1c.3551C>T (p.Ala1184Val)
c.3650C>T (p.Ala1217Val)
c.2741C>T (p.Ala914Val)
n.747C>T
 dbSNP gnomAD v4 COSMIC
2g.189009049C>ACA430406234COL3A1c.3552C>A (p.Ala1184=)
c.3651C>A (p.Ala1217=)
c.2742C>A (p.Ala914=)
n.748C>A
 dbSNP
2g.189009049C=CA1315405539COL3A1c.3552C= (p.Ala1184=)
c.3651C= (p.Ala1217=)
c.2742C= (p.Ala914=)
n.748C=
2g.189009049C>GCA430406235COL3A1c.3552C>G (p.Ala1184=)
c.3651C>G (p.Ala1217=)
c.2742C>G (p.Ala914=)
n.748C>G
2g.189009049C>TCA430406236COL3A1c.3552C>T (p.Ala1184=)
c.3651C>T (p.Ala1217=)
c.2742C>T (p.Ala914=)
n.748C>T
2g.189009050C>ACA349846894COL3A1c.3553C>A (p.Pro1185Thr)
c.3652C>A (p.Pro1218Thr)
c.2743C>A (p.Pro915Thr)
n.749C>A
2g.189009050C=CA1315405540COL3A1c.3553C= (p.Pro1185=)
c.3652C= (p.Pro1218=)
c.2743C= (p.Pro915=)
n.749C=
2g.189009050C>GCA349846891COL3A1c.3553C>G (p.Pro1185Ala)
c.3652C>G (p.Pro1218Ala)
c.2743C>G (p.Pro915Ala)
n.749C>G
2g.189009050C>TCA076226COL3A1c.3553C>T (p.Pro1185Ser)
c.3652C>T (p.Pro1218Ser)
c.2743C>T (p.Pro915Ser)
n.749C>T
 dbSNP ExAC
2g.189009051C>ACA349846897COL3A1c.3554C>A (p.Pro1185Gln)
c.3653C>A (p.Pro1218Gln)
c.2744C>A (p.Pro915Gln)
n.750C>A
2g.189009051C=CA1315405541COL3A1c.3554C= (p.Pro1185=)
c.3653C= (p.Pro1218=)
c.2744C= (p.Pro915=)
n.750C=
2g.189009051C>GCA349846898COL3A1c.3554C>G (p.Pro1185Arg)
c.3653C>G (p.Pro1218Arg)
c.2744C>G (p.Pro915Arg)
n.750C>G
2g.189009051C>TCA076228COL3A1c.3554C>T (p.Pro1185Leu)
c.3653C>T (p.Pro1218Leu)
c.2744C>T (p.Pro915Leu)
n.750C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.189009052G>ACA076230COL3A1c.3555G>A (p.Pro1185=)
c.3654G>A (p.Pro1218=)
c.2745G>A (p.Pro915=)
n.751G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.189009052G>CCA430406237COL3A1c.3555G>C (p.Pro1185=)
c.3654G>C (p.Pro1218=)
c.2745G>C (p.Pro915=)
n.751G>C
 dbSNP
2g.189009052G=CA1315405542COL3A1c.3555G= (p.Pro1185=)
c.3654G= (p.Pro1218=)
c.2745G= (p.Pro915=)
n.751G=
2g.189009052G>TCA006711COL3A1c.3555G>T (p.Pro1185=)
c.3654G>T (p.Pro1218=)
c.2745G>T (p.Pro915=)
n.751G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189009053T>ACA349846903COL3A1c.3556T>A (p.Tyr1186Asn)
c.3655T>A (p.Tyr1219Asn)
c.2746T>A (p.Tyr916Asn)
n.752T>A
2g.189009053T>CCA349846905COL3A1c.3556T>C (p.Tyr1186His)
c.3655T>C (p.Tyr1219His)
c.2746T>C (p.Tyr916His)
n.752T>C
2g.189009053T>GCA349846907COL3A1c.3556T>G (p.Tyr1186Asp)
c.3655T>G (p.Tyr1219Asp)
c.2746T>G (p.Tyr916Asp)
n.752T>G
2g.189009054A>CCA349846909COL3A1c.3557A>C (p.Tyr1186Ser)
c.3656A>C (p.Tyr1219Ser)
c.2747A>C (p.Tyr916Ser)
n.753A>C
2g.189009054A>GCA349846912COL3A1c.3557A>G (p.Tyr1186Cys)
c.3656A>G (p.Tyr1219Cys)
c.2747A>G (p.Tyr916Cys)
n.753A>G
 ClinVar
2g.189009054A>TCA349846914COL3A1c.3557A>T (p.Tyr1186Phe)
c.3656A>T (p.Tyr1219Phe)
c.2747A>T (p.Tyr916Phe)
n.753A>T
2g.189009055T>ACA349846917COL3A1c.3558T>A (p.Tyr1186Ter)
c.3657T>A (p.Tyr1219Ter)
c.2748T>A (p.Tyr916Ter)
n.754T>A
2g.189009055T>CCA430406238COL3A1c.3558T>C (p.Tyr1186=)
c.3657T>C (p.Tyr1219=)
c.2748T>C (p.Tyr916=)
n.754T>C
 gnomAD v4
2g.189009055T>GCA349846920COL3A1c.3558T>G (p.Tyr1186Ter)
c.3657T>G (p.Tyr1219Ter)
c.2748T>G (p.Tyr916Ter)
n.754T>G
2g.189009056T>ACA349846924COL3A1c.3559T>A (p.Tyr1187Asn)
c.3658T>A (p.Tyr1220Asn)
c.2749T>A (p.Tyr917Asn)
n.755T>A
 ClinVar dbSNP COSMIC COSMIC
2g.189009056T>CCA349846928COL3A1c.3559T>C (p.Tyr1187His)
c.3658T>C (p.Tyr1220His)
c.2749T>C (p.Tyr917His)
n.755T>C
2g.189009056T>GCA349846925COL3A1c.3559T>G (p.Tyr1187Asp)
c.3658T>G (p.Tyr1220Asp)
c.2749T>G (p.Tyr917Asp)
n.755T>G
2g.189009056T=CA1315405543COL3A1c.3559T= (p.Tyr1187=)
c.3658T= (p.Tyr1220=)
c.2749T= (p.Tyr917=)
n.755T=
2g.189009057A>CCA349846931COL3A1c.3560A>C (p.Tyr1187Ser)
c.3659A>C (p.Tyr1220Ser)
c.2750A>C (p.Tyr917Ser)
n.756A>C
2g.189009057A>GCA349846933COL3A1c.3560A>G (p.Tyr1187Cys)
c.3659A>G (p.Tyr1220Cys)
c.2750A>G (p.Tyr917Cys)
n.756A>G
 gnomAD v4
2g.189009057A>TCA349846935COL3A1c.3560A>T (p.Tyr1187Phe)
c.3659A>T (p.Tyr1220Phe)
c.2750A>T (p.Tyr917Phe)
n.756A>T
 COSMIC
2g.189009058T>ACA349846936COL3A1c.3561T>A (p.Tyr1187Ter)
c.3660T>A (p.Tyr1220Ter)
c.2751T>A (p.Tyr917Ter)
n.757T>A
2g.189009058T>CCA430406239COL3A1c.3561T>C (p.Tyr1187=)
c.3660T>C (p.Tyr1220=)
c.2751T>C (p.Tyr917=)
n.757T>C
2g.189009058T>GCA349846939COL3A1c.3561T>G (p.Tyr1187Ter)
c.3660T>G (p.Tyr1220Ter)
c.2751T>G (p.Tyr917Ter)
n.757T>G
2g.189009059G>ACA349846943COL3A1c.3562G>A (p.Gly1188Arg)
c.3661G>A (p.Gly1221Arg)
c.2752G>A (p.Gly918Arg)
n.758G>A
 gnomAD v3 gnomAD v4
2g.189009059G>CCA349846945COL3A1c.3562G>C (p.Gly1188Arg)
c.3661G>C (p.Gly1221Arg)
c.2752G>C (p.Gly918Arg)
n.758G>C
2g.189009059G>TCA349846948COL3A1c.3562G>T (p.Gly1188Ter)
c.3661G>T (p.Gly1221Ter)
c.2752G>T (p.Gly918Ter)
n.758G>T
2g.189009059_189009060delCA645514688COL3A1c.3562_3563del (p.Gly1188ArgfsTer2)
c.3661_3662del (p.Gly1221ArgfsTer2)
c.2752_2753del (p.Gly918ArgfsTer2)
n.758_759del
 COSMIC COSMIC

Number of alleles fetched