Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188988189_188990680delinsTATGCAAAATCAAACCA913190219COL3A1c.582+55_798+320delinsTATGCAAAATCAAAC
ClinVar
2g.188989409_188996315delCA281702COL3A1c.650_1564-83del
c.650_1663-83del
ClinVar
2g.188990083_188990098delCA1139768232COL3A1c.691-13_693del
2g.188990095G>ACA349848941COL3A1c.691-1G>A (n.691-1G>A)
ClinVar
2g.188990095G>CCA349848943COL3A1c.691-1G>C (n.691-1G>C)
2g.188990095G>TCA349848944COL3A1c.691-1G>T (n.691-1G>T)
2g.188990096G>ACA349848945COL3A1c.691G>A (p.Gly231Arg)
2g.188990096G>CCA349848947COL3A1c.691G>C (p.Gly231Arg)
2g.188990096G>TCA349848949COL3A1c.691G>T (p.Gly231Ter)
2g.188990097G>ACA349848950COL3A1c.692G>A (p.Gly231Glu)
COSMIC COSMIC
2g.188990097G>CCA349848952COL3A1c.692G>C (p.Gly231Ala)
2g.188990097G>TCA349848953COL3A1c.692G>T (p.Gly231Val)
2g.188990098A=CA1315396632COL3A1c.693A= (p.Gly231=)
2g.188990098A>CCA430309032COL3A1c.693A>C (p.Gly231=)
2g.188990098A>GCA076821COL3A1c.693A>G (p.Gly231=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.188990098A>TCA430309033COL3A1c.693A>T (p.Gly231=)
2g.188990099G>ACA349848956COL3A1c.694G>A (p.Glu232Lys)
2g.188990099G>CCA349848958COL3A1c.694G>C (p.Glu232Gln)
gnomAD v4
2g.188990099G>TCA349848959COL3A1c.694G>T (p.Glu232Ter)
COSMIC COSMIC
2g.188990100A=CA1315396634COL3A1c.695A= (p.Glu232=)
2g.188990100A>CCA076823COL3A1c.695A>C (p.Glu232Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188990100A>GCA349848963COL3A1c.695A>G (p.Glu232Gly)
2g.188990100A>TCA349848961COL3A1c.695A>T (p.Glu232Val)
2g.188990101A=CA1315396637COL3A1c.696A= (p.Glu232=)
2g.188990101A>CCA349848965COL3A1c.696A>C (p.Glu232Asp)
2g.188990101A>GCA007287COL3A1c.696A>G (p.Glu232=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188990101A>TCA349848966COL3A1c.696A>T (p.Glu232Asp)
2g.188990102T>ACA349848968COL3A1c.697T>A (p.Ser233Thr)
2g.188990102T>CCA349848970COL3A1c.697T>C (p.Ser233Pro)
2g.188990102T>GCA349848971COL3A1c.697T>G (p.Ser233Ala)
2g.188990103C>ACA349848973COL3A1c.698C>A (p.Ser233Ter)
2g.188990103C>GCA349848975COL3A1c.698C>G (p.Ser233Ter)
ClinVar dbSNP
2g.188990103C>TCA349848977COL3A1c.698C>T (p.Ser233Leu)
2g.188990104A>CCA430309034COL3A1c.699A>C (p.Ser233=)
2g.188990104A>GCA430309036COL3A1c.699A>G (p.Ser233=)
gnomAD v4
2g.188990104A>TCA430309035COL3A1c.699A>T (p.Ser233=)
2g.188990105G>ACA349848978COL3A1c.700G>A (p.Gly234Ser)
2g.188990105G>CCA349848980COL3A1c.700G>C (p.Gly234Arg)
2g.188990105G>TCA349848982COL3A1c.700G>T (p.Gly234Cys)
2g.188990106G>ACA007294COL3A1c.701G>A (p.Gly234Asp)
ClinVar dbSNP
2g.188990106G>CCA349848983COL3A1c.701G>C (p.Gly234Ala)
2g.188990106G=CA1315396639COL3A1c.701G= (p.Gly234=)
2g.188990106G>TCA349848985COL3A1c.701G>T (p.Gly234Val)
2g.188990107T>ACA430309037COL3A1c.702T>A (p.Gly234=)
2g.188990107T>CCA430309038COL3A1c.702T>C (p.Gly234=)
gnomAD v4
2g.188990107T>GCA430309039COL3A1c.702T>G (p.Gly234=)
2g.188990108A>CCA430309040COL3A1c.703A>C (p.Arg235=)
2g.188990108A>GCA349848988COL3A1c.703A>G (p.Arg235Gly)
2g.188990108A>TCA349848987COL3A1c.703A>T (p.Arg235Ter)
2g.188990109G>ACA349848989COL3A1c.704G>A (p.Arg235Lys)
2g.188990109G>CCA349848990COL3A1c.704G>C (p.Arg235Thr)
dbSNP gnomAD v3 gnomAD v4
2g.188990109G=CA1315396641COL3A1c.704G= (p.Arg235=)
2g.188990109G>TCA076825COL3A1c.704G>T (p.Arg235Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188990110A>CCA349848992COL3A1c.705A>C (p.Arg235Ser)
2g.188990110A>GCA430309041COL3A1c.705A>G (p.Arg235=)
2g.188990110A>TCA349848994COL3A1c.705A>T (p.Arg235Ser)
2g.188990111C>ACA349848996COL3A1c.706C>A (p.Pro236Thr)
2g.188990111C=CA1315396642COL3A1c.706C= (p.Pro236=)
2g.188990111C>GCA349848997COL3A1c.706C>G (p.Pro236Ala)
2g.188990111C>TCA007305COL3A1c.706C>T (p.Pro236Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188990112C>ACA349848998COL3A1c.707C>A (p.Pro236His)
2g.188990112C=CA1315396644COL3A1c.707C= (p.Pro236=)
2g.188990112C>GCA349848999COL3A1c.707C>G (p.Pro236Arg)
ClinVar dbSNP
2g.188990112C>TCA349849000COL3A1c.707C>T (p.Pro236Leu)
ClinVar
2g.188990113C>ACA430309042COL3A1c.708C>A (p.Pro236=)
2g.188990113C=CA1315396646COL3A1c.708C= (p.Pro236=)
2g.188990113C>GCA076829COL3A1c.708C>G (p.Pro236=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188990113C>TCA430309043COL3A1c.708C>T (p.Pro236=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.188990114G>ACA007314COL3A1c.709G>A (p.Gly237Arg)
ClinVar dbSNP gnomAD v4
2g.188990114G>CCA349849002COL3A1c.709G>C (p.Gly237Arg)
2g.188990114G=CA1315396649COL3A1c.709G= (p.Gly237=)
2g.188990114G>TCA349849001COL3A1c.709G>T (p.Gly237Ter)
2g.188990115G>ACA349849003COL3A1c.710G>A (p.Gly237Glu)
2g.188990115G>CCA349849004COL3A1c.710G>C (p.Gly237Ala)
2g.188990115G>TCA349849005COL3A1c.710G>T (p.Gly237Val)
2g.188990116A>CCA430309044COL3A1c.711A>C (p.Gly237=)
2g.188990116A>GCA430309045COL3A1c.711A>G (p.Gly237=)
ClinVar dbSNP
2g.188990116A>TCA430309046COL3A1c.711A>T (p.Gly237=)
2g.188990117C>ACA430309047COL3A1c.712C>A (p.Arg238=)
2g.188990117C=CA1315396651COL3A1c.712C= (p.Arg238=)
2g.188990117C>GCA349849006COL3A1c.712C>G (p.Arg238Gly)
2g.188990117C>TCA349849007COL3A1c.712C>T (p.Arg238Ter)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.188990118G>ACA076831COL3A1c.713G>A (p.Arg238Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188990118G>CCA349849009COL3A1c.713G>C (p.Arg238Pro)
2g.188990118G=CA1315396653COL3A1c.713G= (p.Arg238=)
2g.188990118G>TCA349849008COL3A1c.713G>T (p.Arg238Leu)
2g.188990119A>CCA430309048COL3A1c.714A>C (p.Arg238=)
2g.188990119A>GCA430309049COL3A1c.714A>G (p.Arg238=)
2g.188990119A>TCA430309050COL3A1c.714A>T (p.Arg238=)
2g.188990120C>ACA349849010COL3A1c.715C>A (p.Pro239Thr)
gnomAD v4
2g.188990120C>GCA349849011COL3A1c.715C>G (p.Pro239Ala)
2g.188990120C>TCA349849012COL3A1c.715C>T (p.Pro239Ser)
2g.188990121C>ACA349849013COL3A1c.716C>A (p.Pro239His)
ClinVar dbSNP
2g.188990121C=CA1315396656COL3A1c.716C= (p.Pro239=)
2g.188990121C>GCA349849014COL3A1c.716C>G (p.Pro239Arg)
2g.188990121C>TCA349849015COL3A1c.716C>T (p.Pro239Leu)
2g.188990122T>ACA430309051COL3A1c.717T>A (p.Pro239=)
2g.188990122T>CCA430309052COL3A1c.717T>C (p.Pro239=)
gnomAD v4
2g.188990122T>GCA430309053COL3A1c.717T>G (p.Pro239=)
2g.188990123G>ACA349849016COL3A1c.718G>A (p.Gly240Arg)
dbSNP gnomAD v2
2g.188990123G>CCA007322COL3A1c.718G>C (p.Gly240Arg)
ClinVar dbSNP
2g.188990123G=CA1315396659COL3A1c.718G= (p.Gly240=)
2g.188990123G>TCA349849017COL3A1c.718G>T (p.Gly240Ter)
2g.188990124G>ACA349849018COL3A1c.719G>A (p.Gly240Glu)
COSMIC COSMIC
2g.188990124G>CCA349849019COL3A1c.719G>C (p.Gly240Ala)
2g.188990124G>TCA349849020COL3A1c.719G>T (p.Gly240Val)
2g.188990125A>CCA430309055COL3A1c.720A>C (p.Gly240=)
2g.188990125A>GCA430309056COL3A1c.720A>G (p.Gly240=)
2g.188990125A>TCA430309054COL3A1c.720A>T (p.Gly240=)
2g.188990126G>ACA349849021COL3A1c.721G>A (p.Glu241Lys)
ClinVar dbSNP
2g.188990126G>CCA349849022COL3A1c.721G>C (p.Glu241Gln)
gnomAD v4
2g.188990126G=CA1315396666COL3A1c.721G= (p.Glu241=)
2g.188990126G>TCA349849023COL3A1c.721G>T (p.Glu241Ter)
2g.188990127A=CA1315396668COL3A1c.722A= (p.Glu241=)
2g.188990127A>CCA349849024COL3A1c.722A>C (p.Glu241Ala)
2g.188990127A>GCA62590260COL3A1c.722A>G (p.Glu241Gly)
dbSNP
2g.188990127A>TCA349849025COL3A1c.722A>T (p.Glu241Val)
2g.188990128G>ACA430309057COL3A1c.723G>A (p.Glu241=)
2g.188990128G>CCA349849026COL3A1c.723G>C (p.Glu241Asp)
gnomAD v4
2g.188990128G>TCA349849027COL3A1c.723G>T (p.Glu241Asp)
ClinVar
2g.188990129C>ACA430309058COL3A1c.724C>A (p.Arg242=)
2g.188990129C=CA1315396672COL3A1c.724C= (p.Arg242=)
2g.188990129C>GCA349849028COL3A1c.724C>G (p.Arg242Gly)
ClinVar dbSNP gnomAD v4
2g.188990129C>TCA349849029COL3A1c.724C>T (p.Arg242Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188990130G>ACA076833COL3A1c.725G>A (p.Arg242Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188990130G>CCA349849031COL3A1c.725G>C (p.Arg242Pro)
2g.188990130G=CA1315396677COL3A1c.725G= (p.Arg242=)
2g.188990130G>TCA349849030COL3A1c.725G>T (p.Arg242Leu)
2g.188990131A>CCA430309059COL3A1c.726A>C (p.Arg242=)
2g.188990131A>GCA430309061COL3A1c.726A>G (p.Arg242=)
2g.188990131A>TCA430309060COL3A1c.726A>T (p.Arg242=)
2g.188990132G>ACA349849032COL3A1c.727G>A (p.Gly243Arg)
2g.188990132G>CCA349849034COL3A1c.727G>C (p.Gly243Arg)
ClinVar
2g.188990132G>TCA349849033COL3A1c.727G>T (p.Gly243Ter)
2g.188990133G>ACA007327COL3A1c.728G>A (p.Gly243Glu)
ClinVar dbSNP COSMIC COSMIC
2g.188990133G>CCA349849035COL3A1c.728G>C (p.Gly243Ala)
2g.188990133G=CA1315396685COL3A1c.728G= (p.Gly243=)
2g.188990133G>TCA007335COL3A1c.728G>T (p.Gly243Val)
ClinVar dbSNP
2g.188990134A>CCA430309062COL3A1c.729A>C (p.Gly243=)
2g.188990134A>GCA430309063COL3A1c.729A>G (p.Gly243=)
ClinVar
2g.188990134A>TCA430309064COL3A1c.729A>T (p.Gly243=)
2g.188990135T>ACA349849036COL3A1c.730T>A (p.Leu244Met)
2g.188990135T>CCA430309065COL3A1c.730T>C (p.Leu244=)
2g.188990135T>GCA349849037COL3A1c.730T>G (p.Leu244Val)
2g.188990136T>ACA349849038COL3A1c.731T>A (p.Leu244Ter)
2g.188990136T>CCA349849039COL3A1c.731T>C (p.Leu244Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188990136T>GCA349849040COL3A1c.731T>G (p.Leu244Trp)
2g.188990136T=CA1315396691COL3A1c.731T= (p.Leu244=)
2g.188990137G>ACA430309066COL3A1c.732G>A (p.Leu244=)
gnomAD v4
2g.188990137G>CCA349849041COL3A1c.732G>C (p.Leu244Phe)
2g.188990137G>TCA349849043COL3A1c.732G>T (p.Leu244Phe)
2g.188990138C>ACA349849045COL3A1c.733C>A (p.Pro245Thr)
2g.188990138C>GCA349849047COL3A1c.733C>G (p.Pro245Ala)
2g.188990138C>TCA349849048COL3A1c.733C>T (p.Pro245Ser)
2g.188990139C>ACA349849049COL3A1c.734C>A (p.Pro245His)
2g.188990139C>GCA349849050COL3A1c.734C>G (p.Pro245Arg)
2g.188990139C>TCA349849052COL3A1c.734C>T (p.Pro245Leu)
2g.188990140T>ACA430309067COL3A1c.735T>A (p.Pro245=)
2g.188990140T>CCA430309068COL3A1c.735T>C (p.Pro245=)
2g.188990140T>GCA430309069COL3A1c.735T>G (p.Pro245=)
2g.188990141G>ACA349849054COL3A1c.736G>A (p.Gly246Arg)
2g.188990141G>CCA349849057COL3A1c.736G>C (p.Gly246Arg)
2g.188990141G>TCA349849056COL3A1c.736G>T (p.Gly246Ter)
2g.188990142delCA2586965486COL3A1c.737del (p.Gly246AspfsTer17)
2g.188990142G>ACA007342COL3A1c.737G>A (p.Gly246Glu)
ClinVar dbSNP
2g.188990142G>CCA349849060COL3A1c.737G>C (p.Gly246Ala)
2g.188990142G=CA1315396695COL3A1c.737G= (p.Gly246=)
2g.188990142G>TCA349849062COL3A1c.737G>T (p.Gly246Val)
2g.188990143A>CCA430309070COL3A1c.738A>C (p.Gly246=)
2g.188990143A>GCA430309071COL3A1c.738A>G (p.Gly246=)
2g.188990143A>TCA430309072COL3A1c.738A>T (p.Gly246=)
2g.188990144C>ACA349849063COL3A1c.739C>A (p.Pro247Thr)
ClinVar dbSNP
2g.188990144C=CA1315396704COL3A1c.739C= (p.Pro247=)
2g.188990144C>GCA349849064COL3A1c.739C>G (p.Pro247Ala)
2g.188990144C>TCA349849066COL3A1c.739C>T (p.Pro247Ser)
2g.188990145C>ACA349849067COL3A1c.740C>A (p.Pro247His)
2g.188990145C>GCA349849069COL3A1c.740C>G (p.Pro247Arg)
gnomAD v4
2g.188990145C>TCA349849070COL3A1c.740C>T (p.Pro247Leu)
ClinVar
2g.188990146T>ACA430309073COL3A1c.741T>A (p.Pro247=)
2g.188990146T>CCA430309075COL3A1c.741T>C (p.Pro247=)
2g.188990146T>GCA430309074COL3A1c.741T>G (p.Pro247=)
2g.188990147C>ACA62590291COL3A1c.742C>A (p.Pro248Thr)
dbSNP
2g.188990147C=CA1315396708COL3A1c.742C= (p.Pro248=)
2g.188990147C>GCA349849074COL3A1c.742C>G (p.Pro248Ala)
2g.188990147C>TCA349849072COL3A1c.742C>T (p.Pro248Ser)
gnomAD v4 COSMIC
2g.188990148C>ACA349849076COL3A1c.743C>A (p.Pro248Gln)
2g.188990148C>GCA349849077COL3A1c.743C>G (p.Pro248Arg)
2g.188990148C>TCA349849079COL3A1c.743C>T (p.Pro248Leu)
ClinVar gnomAD v4 COSMIC COSMIC
2g.188990149A=CA1315396711COL3A1c.744A= (p.Pro248=)
2g.188990149A>CCA430309076COL3A1c.744A>C (p.Pro248=)
2g.188990149A>GCA076849COL3A1c.744A>G (p.Pro248=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188990149A>TCA430309077COL3A1c.744A>T (p.Pro248=)
2g.188990152_188990155dupCA2586965487COL3A1c.744+3_744+6dup
gnomAD v4
2g.188990150G>ACA349849080COL3A1c.744+1G>A (n.744+1G>A)
2g.188990150G>CCA349849082COL3A1c.744+1G>C (n.744+1G>C)
2g.188990150G>TCA349849083COL3A1c.744+1G>T (n.744+1G>T)
2g.188990151T>ACA349849084COL3A1c.744+2T>A (n.744+2T>A)
2g.188990151T>CCA349849086COL3A1c.744+2T>C (n.744+2T>C)
2g.188990151T>GCA349849088COL3A1c.744+2T>G (n.744+2T>G)
2g.188990156C=CA1315396714COL3A1c.744+7C= (n.744+7C=)
2g.188990156C>GCA62590315COL3A1c.744+7C>G (n.744+7C>G)
dbSNP gnomAD v3 gnomAD v4
2g.188990159C>ACA076835COL3A1c.744+10C>A (n.744+10C>A)
dbSNP ExAC gnomAD v2
2g.188990159C=CA1315396716COL3A1c.744+10C= (n.744+10C=)
2g.188990159C>TCA538441091COL3A1c.744+10C>T (n.744+10C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188990160A=CA1315396718COL3A1c.744+11A= (n.744+11A=)
2g.188990160A>GCA076837COL3A1c.744+11A>G (n.744+11A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188990161G>ACA076838COL3A1c.744+12G>A (n.744+12G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188990161G>CCA2577185177COL3A1c.744+12G>C (n.744+12G>C)
2g.188990161G=CA1315396720COL3A1c.744+12G= (n.744+12G=)
2g.188990163A=CA1315396722COL3A1c.744+14A= (n.744+14A=)
2g.188990163A>GCA538441092COL3A1c.744+14A>G (n.744+14A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188990164T>CCA076840COL3A1c.744+15T>C (n.744+15T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188990164T=CA1315396725COL3A1c.744+15T= (n.744+15T=)
2g.188990166T>CCA2662287064COL3A1c.744+17T>C (n.744+17T>C)
gnomAD v4
2g.188990167A>GCA2662287066COL3A1c.744+18A>G (n.744+18A>G)
gnomAD v4
2g.188990169T>CCA076842COL3A1c.744+20T>C (n.744+20T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188990169T=CA1315396727COL3A1c.744+20T= (n.744+20T=)
2g.188990173T>CCA62590361COL3A1c.744+24T>C (n.744+24T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188990173T=CA1315396730COL3A1c.744+24T= (n.744+24T=)
2g.188990176A=CA1315396732COL3A1c.744+27A= (n.744+27A=)
2g.188990176A>CCA076843COL3A1c.744+27A>C (n.744+27A>C)
dbSNP ExAC
2g.188990176A>GCA2577185178COL3A1c.744+27A>G (n.744+27A>G)
gnomAD v4
2g.188990177T>CCA2662287069COL3A1c.744+28T>C (n.744+28T>C)
gnomAD v4
2g.188990178T>CCA2662287071COL3A1c.744+29T>C (n.744+29T>C)
gnomAD v4
2g.188990179G>ACA762192166COL3A1c.744+30G>A (n.744+30G>A)
dbSNP gnomAD v3 gnomAD v4
2g.188990179G=CA1315396734COL3A1c.744+30G= (n.744+30G=)
2g.188990183T>GCA1040404919COL3A1c.744+34T>G (n.744+34T>G)
dbSNP gnomAD v3 gnomAD v4
2g.188990183T=CA1315396735COL3A1c.744+34T= (n.744+34T=)
2g.188990186T>CCA538441093COL3A1c.744+37T>C (n.744+37T>C)
dbSNP gnomAD v2 gnomAD v4
2g.188990186T=CA1315396737COL3A1c.744+37T= (n.744+37T=)
2g.188990190A=CA1315396738COL3A1c.744+41A= (n.744+41A=)
2g.188990190A>GCA076845COL3A1c.744+41A>G (n.744+41A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188990191G>ACA1315396741COL3A1c.744+42G>A (n.744+42G>A)
dbSNP gnomAD v4
2g.188990191G=CA1315396740COL3A1c.744+42G= (n.744+42G=)
2g.188990192C>ACA2662287075COL3A1c.744+43C>A (n.744+43C>A)
gnomAD v4
2g.188990193T>GCA538441094COL3A1c.744+44T>G (n.744+44T>G)
dbSNP gnomAD v2 gnomAD v4
2g.188990193T=CA1315396742COL3A1c.744+44T= (n.744+44T=)
2g.188990195G>ACA2662287076COL3A1c.744+46G>A (n.744+46G>A)
gnomAD v4
2g.188990195G>CCA2701315181COL3A1c.744+46G>C (n.744+46G>C)
dbSNP

Number of alleles fetched