Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188996436_189001956delCA916081383COL3A1c.1602_2293-342del
c.1701_2392-342del
 ClinVar
2g.188999340G>ACA349840137COL3A1c.1979G>A (p.Gly660Glu)
c.2078G>A (p.Gly693Glu)
 ClinVar COSMIC COSMIC
2g.188999340G>CCA004970COL3A1c.1979G>C (p.Gly660Ala)
c.2078G>C (p.Gly693Ala)
 ClinVar dbSNP
2g.188999340G=CA1315400891COL3A1c.1979G= (p.Gly660=)
c.2078G= (p.Gly693=)
2g.188999340G>TCA349840149COL3A1c.1979G>T (p.Gly660Val)
c.2078G>T (p.Gly693Val)
 ClinVar dbSNP gnomAD v4
2g.188999341A=CA1315400892COL3A1c.1980A= (p.Gly660=)
c.2079A= (p.Gly693=)
2g.188999341A>CCA430310547COL3A1c.1980A>C (p.Gly660=)
c.2079A>C (p.Gly693=)
2g.188999341A>GCA430310548COL3A1c.1980A>G (p.Gly660=)
c.2079A>G (p.Gly693=)
 dbSNP
2g.188999341A>TCA430310549COL3A1c.1980A>T (p.Gly660=)
c.2079A>T (p.Gly693=)
 ClinVar dbSNP gnomAD v2
2g.188999342C>ACA349840156COL3A1c.1981C>A (p.Leu661Ile)
c.2080C>A (p.Leu694Ile)
 gnomAD v4
2g.188999342C>GCA349840158COL3A1c.1981C>G (p.Leu661Val)
c.2080C>G (p.Leu694Val)
2g.188999342C>TCA349840160COL3A1c.1981C>T (p.Leu661Phe)
c.2080C>T (p.Leu694Phe)
2g.188999343T>ACA349840171COL3A1c.1982T>A (p.Leu661His)
c.2081T>A (p.Leu694His)
2g.188999343T>CCA349840167COL3A1c.1982T>C (p.Leu661Pro)
c.2081T>C (p.Leu694Pro)
2g.188999343T>GCA349840164COL3A1c.1982T>G (p.Leu661Arg)
c.2081T>G (p.Leu694Arg)
2g.188999344T>ACA430310550COL3A1c.1983T>A (p.Leu661=)
c.2082T>A (p.Leu694=)
2g.188999344T>CCA430310551COL3A1c.1983T>C (p.Leu661=)
c.2082T>C (p.Leu694=)
2g.188999344T>GCA430310552COL3A1c.1983T>G (p.Leu661=)
c.2082T>G (p.Leu694=)
2g.188999345A>CCA430310553COL3A1c.1984A>C (p.Arg662=)
c.2083A>C (p.Arg695=)
2g.188999345A>GCA349840178COL3A1c.1984A>G (p.Arg662Gly)
c.2083A>G (p.Arg695Gly)
2g.188999345A>TCA349840175COL3A1c.1984A>T (p.Arg662Ter)
c.2083A>T (p.Arg695Ter)
 gnomAD v4
2g.188999346G>ACA349840185COL3A1c.1985G>A (p.Arg662Lys)
c.2084G>A (p.Arg695Lys)
 ClinVar
2g.188999346G>CCA349840183COL3A1c.1985G>C (p.Arg662Thr)
c.2084G>C (p.Arg695Thr)
2g.188999346G>TCA349840189COL3A1c.1985G>T (p.Arg662Ile)
c.2084G>T (p.Arg695Ile)
2g.188999347A=CA1315400893COL3A1c.1986A= (p.Arg662=)
c.2085A= (p.Arg695=)
2g.188999347A>CCA349840192COL3A1c.1986A>C (p.Arg662Ser)
c.2085A>C (p.Arg695Ser)
2g.188999347A>GCA62554460COL3A1c.1986A>G (p.Arg662=)
c.2085A>G (p.Arg695=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188999347A>TCA349840195COL3A1c.1986A>T (p.Arg662Ser)
c.2085A>T (p.Arg695Ser)
2g.188999348G>ACA349840200COL3A1c.1987G>A (p.Gly663Ser)
c.2086G>A (p.Gly696Ser)
2g.188999348G>CCA349840204COL3A1c.1987G>C (p.Gly663Arg)
c.2086G>C (p.Gly696Arg)
2g.188999348G>TCA349840209COL3A1c.1987G>T (p.Gly663Cys)
c.2086G>T (p.Gly696Cys)
 gnomAD v4
2g.188999349G>ACA004979COL3A1c.1988G>A (p.Gly663Asp)
c.2087G>A (p.Gly696Asp)
 ClinVar dbSNP
2g.188999349G>CCA349840214COL3A1c.1988G>C (p.Gly663Ala)
c.2087G>C (p.Gly696Ala)
2g.188999349G=CA1315400894COL3A1c.1988G= (p.Gly663=)
c.2087G= (p.Gly696=)
2g.188999349G>TCA349840218COL3A1c.1988G>T (p.Gly663Val)
c.2087G>T (p.Gly696Val)
2g.188999350T>ACA430310554COL3A1c.1989T>A (p.Gly663=)
c.2088T>A (p.Gly696=)
2g.188999350T>CCA430310555COL3A1c.1989T>C (p.Gly663=)
c.2088T>C (p.Gly696=)
 gnomAD v4
2g.188999350T>GCA074978COL3A1c.1989T>G (p.Gly663=)
c.2088T>G (p.Gly696=)
 dbSNP ExAC gnomAD v4
2g.188999350T=CA1315400895COL3A1c.1989T= (p.Gly663=)
c.2088T= (p.Gly696=)
2g.188999351G>ACA62554466COL3A1c.1990G>A (p.Gly664Arg)
c.2089G>A (p.Gly697Arg)
 dbSNP
2g.188999351G>CCA349840227COL3A1c.1990G>C (p.Gly664Arg)
c.2089G>C (p.Gly697Arg)
2g.188999351G=CA1315400896COL3A1c.1990G= (p.Gly664=)
c.2089G= (p.Gly697=)
2g.188999351G>TCA349840230COL3A1c.1990G>T (p.Gly664Ter)
c.2089G>T (p.Gly697Ter)
2g.188999352G>ACA349840236COL3A1c.1991G>A (p.Gly664Glu)
c.2090G>A (p.Gly697Glu)
2g.188999352G>CCA349840238COL3A1c.1991G>C (p.Gly664Ala)
c.2090G>C (p.Gly697Ala)
2g.188999352G>TCA349840242COL3A1c.1991G>T (p.Gly664Val)
c.2090G>T (p.Gly697Val)
2g.188999353A=CA1315400897COL3A1c.1992A= (p.Gly664=)
c.2091A= (p.Gly697=)
2g.188999353A>CCA430310557COL3A1c.1992A>C (p.Gly664=)
c.2091A>C (p.Gly697=)
2g.188999353A>GCA074981COL3A1c.1992A>G (p.Gly664=)
c.2091A>G (p.Gly697=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999353A>TCA430310556COL3A1c.1992A>T (p.Gly664=)
c.2091A>T (p.Gly697=)
2g.188999354G>ACA004987COL3A1c.1993G>A (p.Ala665Thr)
c.2092G>A (p.Ala698Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999354G>CCA349840253COL3A1c.1993G>C (p.Ala665Pro)
c.2092G>C (p.Ala698Pro)
 dbSNP
2g.188999354G=CA1315400898COL3A1c.1993G= (p.Ala665=)
c.2092G= (p.Ala698=)
2g.188999354G>TCA349840257COL3A1c.1993G>T (p.Ala665Ser)
c.2092G>T (p.Ala698Ser)
 dbSNP
2g.188999354_188999359delinsACTGGCA2695197093COL3A1c.1993_1998delinsACTGG (p.Ala665ThrfsTer?)
c.2092_2097delinsACTGG (p.Ala698ThrfsTer?)
 ClinVar
2g.188999354_188999360delinsACTGTTCA2697551450COL3A1c.1993_1999delinsACTGTT (p.Ala665ThrfsTer?)
c.2092_2098delinsACTGTT (p.Ala698ThrfsTer?)
 ClinVar
2g.188999355C>ACA349840262COL3A1c.1994C>A (p.Ala665Asp)
c.2093C>A (p.Ala698Asp)
 dbSNP gnomAD v2
2g.188999355C=CA1315400899COL3A1c.1994C= (p.Ala665=)
c.2093C= (p.Ala698=)
2g.188999355C>GCA349840264COL3A1c.1994C>G (p.Ala665Gly)
c.2093C>G (p.Ala698Gly)
 dbSNP
2g.188999355C>TCA349840268COL3A1c.1994C>T (p.Ala665Val)
c.2093C>T (p.Ala698Val)
 dbSNP
2g.188999356T>ACA430310560COL3A1c.1995T>A (p.Ala665=)
c.2094T>A (p.Ala698=)
2g.188999356T>CCA430310558COL3A1c.1995T>C (p.Ala665=)
c.2094T>C (p.Ala698=)
2g.188999356T>GCA430310559COL3A1c.1995T>G (p.Ala665=)
c.2094T>G (p.Ala698=)
2g.188999357G>ACA349840273COL3A1c.1996G>A (p.Gly666Ser)
c.2095G>A (p.Gly699Ser)
2g.188999357G>CCA004993COL3A1c.1996G>C (p.Gly666Arg)
c.2095G>C (p.Gly699Arg)
 ClinVar dbSNP
2g.188999357G=CA1315400900COL3A1c.1996G= (p.Gly666=)
c.2095G= (p.Gly699=)
2g.188999357G>TCA349840277COL3A1c.1996G>T (p.Gly666Cys)
c.2095G>T (p.Gly699Cys)
 ClinVar
2g.188999358G>ACA005001COL3A1c.1997G>A (p.Gly666Asp)
c.2096G>A (p.Gly699Asp)
 ClinVar dbSNP
2g.188999358G>CCA349840284COL3A1c.1997G>C (p.Gly666Ala)
c.2096G>C (p.Gly699Ala)
2g.188999358G=CA1315400901COL3A1c.1997G= (p.Gly666=)
c.2096G= (p.Gly699=)
2g.188999358G>TCA349840287COL3A1c.1997G>T (p.Gly666Val)
c.2096G>T (p.Gly699Val)
 ClinVar dbSNP
2g.188999359delCA2586965481COL3A1c.1998del (p.Pro668LeufsTer?)
c.2097del (p.Pro701LeufsTer?)
2g.188999359T>ACA430310561COL3A1c.1998T>A (p.Gly666=)
c.2097T>A (p.Gly699=)
2g.188999359T>CCA430310563COL3A1c.1998T>C (p.Gly666=)
c.2097T>C (p.Gly699=)
 dbSNP gnomAD v2 gnomAD v4
2g.188999359T>GCA430310562COL3A1c.1998T>G (p.Gly666=)
c.2097T>G (p.Gly699=)
2g.188999359T=CA1315400902COL3A1c.1998T= (p.Gly666=)
c.2097T= (p.Gly699=)
2g.188999359_188999360delinsTCCA1315400903COL3A1c.1998_1999delinsTC (p.Gly666=)
c.2097_2098delinsTC (p.Gly699=)
2g.188999360C>ACA349840296COL3A1c.1999C>A (p.Pro667Thr)
c.2098C>A (p.Pro700Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188999360C=CA1315400904COL3A1c.1999C= (p.Pro667=)
c.2098C= (p.Pro700=)
2g.188999360C>GCA349840293COL3A1c.1999C>G (p.Pro667Ala)
c.2098C>G (p.Pro700Ala)
2g.188999360C>TCA349840291COL3A1c.1999C>T (p.Pro667Ser)
c.2098C>T (p.Pro700Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188999364delCA913189728COL3A1c.2003del (p.Pro668LeufsTer?)
c.2102del (p.Pro701LeufsTer?)
 ClinVar dbSNP
2g.188999361C>ACA349840299COL3A1c.2000C>A (p.Pro667His)
c.2099C>A (p.Pro700His)
 dbSNP
2g.188999361C=CA1315400905COL3A1c.2000C= (p.Pro667=)
c.2099C= (p.Pro700=)
2g.188999361C>GCA349840304COL3A1c.2000C>G (p.Pro667Arg)
c.2099C>G (p.Pro700Arg)
2g.188999361C>TCA349840307COL3A1c.2000C>T (p.Pro667Leu)
c.2099C>T (p.Pro700Leu)
 dbSNP gnomAD v2
2g.188999362C>ACA430310564COL3A1c.2001C>A (p.Pro667=)
c.2100C>A (p.Pro700=)
2g.188999362C>GCA430310565COL3A1c.2001C>G (p.Pro667=)
c.2100C>G (p.Pro700=)
2g.188999362C>TCA430310566COL3A1c.2001C>T (p.Pro667=)
c.2100C>T (p.Pro700=)
2g.188999363C>ACA349840310COL3A1c.2002C>A (p.Pro668Thr)
c.2101C>A (p.Pro701Thr)
2g.188999363C=CA1315400906COL3A1c.2002C= (p.Pro668=)
c.2101C= (p.Pro701=)
2g.188999363C>GCA62554476COL3A1c.2002C>G (p.Pro668Ala)
c.2101C>G (p.Pro701Ala)
 ClinVar dbSNP gnomAD v4
2g.188999363C>TCA349840315COL3A1c.2002C>T (p.Pro668Ser)
c.2101C>T (p.Pro701Ser)
2g.188999364C>ACA349840319COL3A1c.2003C>A (p.Pro668His)
c.2102C>A (p.Pro701His)
2g.188999364C>GCA349840322COL3A1c.2003C>G (p.Pro668Arg)
c.2102C>G (p.Pro701Arg)
 gnomAD v4
2g.188999364C>TCA349840326COL3A1c.2003C>T (p.Pro668Leu)
c.2102C>T (p.Pro701Leu)
2g.188999365T>ACA430310567COL3A1c.2004T>A (p.Pro668=)
c.2103T>A (p.Pro701=)
2g.188999365T>CCA430310568COL3A1c.2004T>C (p.Pro668=)
c.2103T>C (p.Pro701=)
 ClinVar dbSNP gnomAD v4
2g.188999365T>GCA430310569COL3A1c.2004T>G (p.Pro668=)
c.2103T>G (p.Pro701=)
2g.188999365T=CA1315400907COL3A1c.2004T= (p.Pro668=)
c.2103T= (p.Pro701=)
2g.188999366G>ACA349840333COL3A1c.2005G>A (p.Gly669Ser)
c.2104G>A (p.Gly702Ser)
 ClinVar
2g.188999366G>CCA349840341COL3A1c.2005G>C (p.Gly669Arg)
c.2104G>C (p.Gly702Arg)
 ClinVar dbSNP
2g.188999366G>TCA349840347COL3A1c.2005G>T (p.Gly669Cys)
c.2104G>T (p.Gly702Cys)
2g.188999367G>ACA005009COL3A1c.2006G>A (p.Gly669Asp)
c.2105G>A (p.Gly702Asp)
 ClinVar dbSNP
2g.188999367G>CCA349840351COL3A1c.2006G>C (p.Gly669Ala)
c.2105G>C (p.Gly702Ala)
 ClinVar dbSNP
2g.188999367G=CA1315400908COL3A1c.2006G= (p.Gly669=)
c.2105G= (p.Gly702=)
2g.188999367G>TCA005016COL3A1c.2006G>T (p.Gly669Val)
c.2105G>T (p.Gly702Val)
 ClinVar dbSNP
2g.188999368T>ACA430310570COL3A1c.2007T>A (p.Gly669=)
c.2106T>A (p.Gly702=)
2g.188999368T>CCA430310571COL3A1c.2007T>C (p.Gly669=)
c.2106T>C (p.Gly702=)
2g.188999368T>GCA62554481COL3A1c.2007T>G (p.Gly669=)
c.2106T>G (p.Gly702=)
 dbSNP
2g.188999368T=CA1315400909COL3A1c.2007T= (p.Gly669=)
c.2106T= (p.Gly702=)
2g.188999369C>ACA349840354COL3A1c.2008C>A (p.Pro670Thr)
c.2107C>A (p.Pro703Thr)
 gnomAD v4
2g.188999369C=CA1315400910COL3A1c.2008C= (p.Pro670=)
c.2107C= (p.Pro703=)
2g.188999369C>GCA62554482COL3A1c.2008C>G (p.Pro670Ala)
c.2107C>G (p.Pro703Ala)
 ClinVar dbSNP
2g.188999369C>TCA074985COL3A1c.2008C>T (p.Pro670Ser)
c.2107C>T (p.Pro703Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999370C>ACA349840362COL3A1c.2009C>A (p.Pro670His)
c.2108C>A (p.Pro703His)
2g.188999370C=CA1315400911COL3A1c.2009C= (p.Pro670=)
c.2108C= (p.Pro703=)
2g.188999370C>GCA349840364COL3A1c.2009C>G (p.Pro670Arg)
c.2108C>G (p.Pro703Arg)
2g.188999370C>TCA349840366COL3A1c.2009C>T (p.Pro670Leu)
c.2108C>T (p.Pro703Leu)
 ClinVar dbSNP COSMIC COSMIC
2g.188999371C>ACA430310572COL3A1c.2010C>A (p.Pro670=)
c.2109C>A (p.Pro703=)
 ClinVar dbSNP gnomAD v4
2g.188999371C=CA1315400912COL3A1c.2010C= (p.Pro670=)
c.2109C= (p.Pro703=)
2g.188999371C>GCA430310573COL3A1c.2010C>G (p.Pro670=)
c.2109C>G (p.Pro703=)
2g.188999371C>TCA074988COL3A1c.2010C>T (p.Pro670=)
c.2109C>T (p.Pro703=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999372G>ACA279199COL3A1c.2011G>A (p.Glu671Lys)
c.2110G>A (p.Glu704Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188999372G>CCA349840369COL3A1c.2011G>C (p.Glu671Gln)
c.2110G>C (p.Glu704Gln)
2g.188999372G=CA1315400913COL3A1c.2011G= (p.Glu671=)
c.2110G= (p.Glu704=)
2g.188999372G>TCA349840370COL3A1c.2011G>T (p.Glu671Ter)
c.2110G>T (p.Glu704Ter)
2g.188999373A>CCA349840371COL3A1c.2012A>C (p.Glu671Ala)
c.2111A>C (p.Glu704Ala)
2g.188999373A>GCA349840373COL3A1c.2012A>G (p.Glu671Gly)
c.2111A>G (p.Glu704Gly)
2g.188999373A>TCA349840377COL3A1c.2012A>T (p.Glu671Val)
c.2111A>T (p.Glu704Val)
2g.188999374A=CA1315400914COL3A1c.2013A= (p.Glu671=)
c.2112A= (p.Glu704=)
2g.188999374A>CCA349840382COL3A1c.2013A>C (p.Glu671Asp)
c.2112A>C (p.Glu704Asp)
 dbSNP
2g.188999374A>GCA430310574COL3A1c.2013A>G (p.Glu671=)
c.2112A>G (p.Glu704=)
2g.188999374A>TCA349840386COL3A1c.2013A>T (p.Glu671Asp)
c.2112A>T (p.Glu704Asp)
2g.188999375G>ACA005025COL3A1c.2014G>A (p.Gly672Arg)
c.2113G>A (p.Gly705Arg)
 ClinVar dbSNP
2g.188999375G>CCA349840396COL3A1c.2014G>C (p.Gly672Arg)
c.2113G>C (p.Gly705Arg)
2g.188999375G=CA1315400915COL3A1c.2014G= (p.Gly672=)
c.2113G= (p.Gly705=)
2g.188999375G>TCA349840393COL3A1c.2014G>T (p.Gly672Ter)
c.2113G>T (p.Gly705Ter)
 gnomAD v4
2g.188999375_188999385delinsGGAGGAAAGGTCA1315400916COL3A1c.2014_2022+2delinsGGAGGAAAGGT
c.2113_2121+2delinsGGAGGAAAGGT
2g.188999376G>ACA005033COL3A1c.2015G>A (p.Gly672Glu)
c.2114G>A (p.Gly705Glu)
 ClinVar dbSNP
2g.188999376G>CCA349840403COL3A1c.2015G>C (p.Gly672Ala)
c.2114G>C (p.Gly705Ala)
2g.188999376G=CA1315400917COL3A1c.2015G= (p.Gly672=)
c.2114G= (p.Gly705=)
2g.188999376G>TCA349840406COL3A1c.2015G>T (p.Gly672Val)
c.2114G>T (p.Gly705Val)
2g.188999376_188999385delCA1139657564COL3A1c.2015_2022+2del
c.2114_2121+2del
 ClinVar dbSNP
2g.188999376_188999387delinsCTCA2586965483COL3A1c.2015_2022+4delinsCT
c.2114_2121+4delinsCT
2g.188999377A=CA1315400918COL3A1c.2016A= (p.Gly672=)
c.2115A= (p.Gly705=)
2g.188999377A>CCA430310575COL3A1c.2016A>C (p.Gly672=)
c.2115A>C (p.Gly705=)
 dbSNP gnomAD v2 gnomAD v4
2g.188999377A>GCA430310576COL3A1c.2016A>G (p.Gly672=)
c.2115A>G (p.Gly705=)
2g.188999377A>TCA430310577COL3A1c.2016A>T (p.Gly672=)
c.2115A>T (p.Gly705=)
 ClinVar gnomAD v4
2g.188999378G>ACA349840414COL3A1c.2017G>A (p.Gly673Arg)
c.2116G>A (p.Gly706Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.188999378G>CCA349840417COL3A1c.2017G>C (p.Gly673Arg)
c.2116G>C (p.Gly706Arg)
2g.188999378G=CA1315400919COL3A1c.2017G= (p.Gly673=)
c.2116G= (p.Gly706=)
2g.188999378G>TCA349840420COL3A1c.2017G>T (p.Gly673Ter)
c.2116G>T (p.Gly706Ter)
2g.188999379G>ACA349840423COL3A1c.2018G>A (p.Gly673Glu)
c.2117G>A (p.Gly706Glu)
 ClinVar dbSNP gnomAD v4
2g.188999379G>CCA349840424COL3A1c.2018G>C (p.Gly673Ala)
c.2117G>C (p.Gly706Ala)
2g.188999379G=CA1315400920COL3A1c.2018G= (p.Gly673=)
c.2117G= (p.Gly706=)
2g.188999379G>TCA349840425COL3A1c.2018G>T (p.Gly673Val)
c.2117G>T (p.Gly706Val)
2g.188999380A>CCA430310578COL3A1c.2019A>C (p.Gly673=)
c.2118A>C (p.Gly706=)
2g.188999380A>GCA430310579COL3A1c.2019A>G (p.Gly673=)
c.2118A>G (p.Gly706=)
2g.188999380A>TCA430310580COL3A1c.2019A>T (p.Gly673=)
c.2118A>T (p.Gly706=)
2g.188999381_188999394delCA2499215534COL3A1c.2020_2022+11del
c.2119_2121+11del
 ClinVar dbSNP
2g.188999381A>CCA349840427COL3A1c.2020A>C (p.Lys674Gln)
c.2119A>C (p.Lys707Gln)
2g.188999381A>GCA349840431COL3A1c.2020A>G (p.Lys674Glu)
c.2119A>G (p.Lys707Glu)
2g.188999381A>TCA349840433COL3A1c.2020A>T (p.Lys674Ter)
c.2119A>T (p.Lys707Ter)
2g.188999382A>CCA349840440COL3A1c.2021A>C (p.Lys674Thr)
c.2120A>C (p.Lys707Thr)
 gnomAD v4
2g.188999382A>GCA349840435COL3A1c.2021A>G (p.Lys674Arg)
c.2120A>G (p.Lys707Arg)
2g.188999382A>TCA349840437COL3A1c.2021A>T (p.Lys674Met)
c.2120A>T (p.Lys707Met)
2g.188999385_188999470delCA2753572428COL3A1c.2022+2_2023del
c.2121+2_2122del
2g.188999383G>ACA430310581COL3A1c.2022G>A (p.Lys674=)
c.2121G>A (p.Lys707=)
2g.188999383G>CCA349840443COL3A1c.2022G>C (p.Lys674Asn)
c.2121G>C (p.Lys707Asn)
2g.188999383G>TCA349840446COL3A1c.2022G>T (p.Lys674Asn)
c.2121G>T (p.Lys707Asn)
2g.188999384G>ACA349840450COL3A1c.2022+1G>A (n.2022+1G>A)
c.2121+1G>A (n.2121+1G>A)
2g.188999384G>CCA005049COL3A1c.2022+1G>C (n.2022+1G>C)
c.2121+1G>C (n.2121+1G>C)
 ClinVar dbSNP
2g.188999384G=CA1315400921COL3A1c.2022+1G= (n.2022+1G=)
c.2121+1G= (n.2121+1G=)
2g.188999384G>TCA349840454COL3A1c.2022+1G>T (n.2022+1G>T)
c.2121+1G>T (n.2121+1G>T)
2g.188999385T>ACA349840455COL3A1c.2022+2T>A (n.2022+2T>A)
c.2121+2T>A (n.2121+2T>A)
2g.188999385T>CCA349840456COL3A1c.2022+2T>C (n.2022+2T>C)
c.2121+2T>C (n.2121+2T>C)
2g.188999385T>GCA349840459COL3A1c.2022+2T>G (n.2022+2T>G)
c.2121+2T>G (n.2121+2T>G)
2g.188999385T=CA1315400922COL3A1c.2022+2T= (n.2022+2T=)
c.2121+2T= (n.2121+2T=)
2g.188999387dupCA1040409808COL3A1c.2022+4dup (n.2022+4dup)
c.2121+4dup (n.2121+4dup)
 dbSNP gnomAD v3 gnomAD v4
2g.188999387delCA2499215535COL3A1c.2022+4del (n.2022+4del)
c.2121+4del (n.2121+4del)
 ClinVar dbSNP gnomAD v4
2g.188999388C=CA1315400923COL3A1c.2022+5C= (n.2022+5C=)
c.2121+5C= (n.2121+5C=)
2g.188999388C>GCA075010COL3A1c.2022+5C>G (n.2022+5C>G)
c.2121+5C>G (n.2121+5C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999389T>GCA2662309032COL3A1c.2022+6T>G (n.2022+6T>G)
c.2121+6T>G (n.2121+6T>G)
 gnomAD v4
2g.188999390C>TCA2662309033COL3A1c.2022+7C>T (n.2022+7C>T)
c.2121+7C>T (n.2121+7C>T)
 gnomAD v4
2g.188999392A>GCA2662309034COL3A1c.2022+9A>G (n.2022+9A>G)
c.2121+9A>G (n.2121+9A>G)
 gnomAD v4
2g.188999393C>ACA2662309035COL3A1c.2022+10C>A (n.2022+10C>A)
c.2121+10C>A (n.2121+10C>A)
 gnomAD v4
2g.188999393C=CA1315400924COL3A1c.2022+10C= (n.2022+10C=)
c.2121+10C= (n.2121+10C=)
2g.188999393C>TCA074990COL3A1c.2022+10C>T (n.2022+10C>T)
c.2121+10C>T (n.2121+10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999394A=CA1315400925COL3A1c.2022+11A= (n.2022+11A=)
c.2121+11A= (n.2121+11A=)
2g.188999394A>GCA1315400926COL3A1c.2022+11A>G (n.2022+11A>G)
c.2121+11A>G (n.2121+11A>G)
 dbSNP gnomAD v4
2g.188999395G>ACA1315400928COL3A1c.2022+12G>A (n.2022+12G>A)
c.2121+12G>A (n.2121+12G>A)
 dbSNP
2g.188999395G=CA1315400927COL3A1c.2022+12G= (n.2022+12G=)
c.2121+12G= (n.2121+12G=)
2g.188999396C>ACA2662309036COL3A1c.2022+13C>A (n.2022+13C>A)
c.2121+13C>A (n.2121+13C>A)
 gnomAD v4
2g.188999396C=CA1315400929COL3A1c.2022+13C= (n.2022+13C=)
c.2121+13C= (n.2121+13C=)
2g.188999396C>GCA1315400930COL3A1c.2022+13C>G (n.2022+13C>G)
c.2121+13C>G (n.2121+13C>G)
 dbSNP
2g.188999396C>TCA1315400931COL3A1c.2022+13C>T (n.2022+13C>T)
c.2121+13C>T (n.2121+13C>T)
 ClinVar dbSNP gnomAD v4
2g.188999400C>ACA430310582COL3A1c.2022+17C>A (n.2022+17C>A)
c.2121+17C>A (n.2121+17C>A)
 gnomAD v4
2g.188999401C>ACA005041COL3A1c.2022+18C>A (n.2022+18C>A)
c.2121+18C>A (n.2121+18C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999401C=CA1315400932COL3A1c.2022+18C= (n.2022+18C=)
c.2121+18C= (n.2121+18C=)
2g.188999402A=CA1315400933COL3A1c.2022+19A= (n.2022+19A=)
c.2121+19A= (n.2121+19A=)
2g.188999402A>GCA074995COL3A1c.2022+19A>G (n.2022+19A>G)
c.2121+19A>G (n.2121+19A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999406A>GCA2662309037COL3A1c.2022+23A>G (n.2022+23A>G)
c.2121+23A>G (n.2121+23A>G)
 gnomAD v4
2g.188999407C=CA1315400934COL3A1c.2022+24C= (n.2022+24C=)
c.2121+24C= (n.2121+24C=)
2g.188999407C>GCA538467217COL3A1c.2022+24C>G (n.2022+24C>G)
c.2121+24C>G (n.2121+24C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.188999407C>TCA62554515COL3A1c.2022+24C>T (n.2022+24C>T)
c.2121+24C>T (n.2121+24C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.188999408C=CA1315400935COL3A1c.2022+25C= (n.2022+25C=)
c.2121+25C= (n.2121+25C=)
2g.188999408C>TCA762200175COL3A1c.2022+25C>T (n.2022+25C>T)
c.2121+25C>T (n.2121+25C>T)
 dbSNP gnomAD v4
2g.188999410_188999426delCA2662309038COL3A1c.2022+27_2023-44del (n.2022+27_2023-44del)
c.2121+27_2122-44del (n.2121+27_2122-44del)
 gnomAD v4
2g.188999410A>CCA2662309039COL3A1c.2022+27A>C (n.2022+27A>C)
c.2121+27A>C (n.2121+27A>C)
 gnomAD v4
2g.188999410A>GCA2577185635COL3A1c.2022+27A>G (n.2022+27A>G)
c.2121+27A>G (n.2121+27A>G)
 gnomAD v4
2g.188999411G>ACA074997COL3A1c.2022+28G>A (n.2022+28G>A)
c.2121+28G>A (n.2121+28G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999411G>CCA075000COL3A1c.2022+28G>C (n.2022+28G>C)
c.2121+28G>C (n.2121+28G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999411G=CA1315400936COL3A1c.2022+28G= (n.2022+28G=)
c.2121+28G= (n.2121+28G=)
2g.188999412G>ACA075003COL3A1c.2022+29G>A (n.2022+29G>A)
c.2121+29G>A (n.2121+29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999412G=CA1315400937COL3A1c.2022+29G= (n.2022+29G=)
c.2121+29G= (n.2121+29G=)
2g.188999412G>TCA538467220COL3A1c.2022+29G>T (n.2022+29G>T)
c.2121+29G>T (n.2121+29G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188999415T>ACA2662309040COL3A1c.2022+32T>A (n.2022+32T>A)
c.2121+32T>A (n.2121+32T>A)
 gnomAD v4
2g.188999415_188999416delinsTACA1315400938COL3A1c.2022+32_2022+33delinsTA (n.2022+32_2022+33delinsTA)
c.2121+32_2121+33delinsTA (n.2121+32_2121+33delinsTA)
2g.188999416A>TCA2577185636COL3A1c.2022+33A>T (n.2022+33A>T)
c.2121+33A>T (n.2121+33A>T)
2g.188999421dupCA2577185637COL3A1c.2022+38dup (n.2022+38dup)
c.2121+38dup (n.2121+38dup)
2g.188999421delCA1315400939COL3A1c.2022+38del (n.2022+38del)
c.2121+38del (n.2121+38del)
 dbSNP gnomAD v4
2g.188999420A>TCA2753572433COL3A1c.2022+37A>T (n.2022+37A>T)
c.2121+37A>T (n.2121+37A>T)
2g.188999423G>ACA538467221COL3A1c.2022+40G>A (n.2022+40G>A)
c.2121+40G>A (n.2121+40G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188999423G>CCA075005COL3A1c.2022+40G>C (n.2022+40G>C)
c.2121+40G>C (n.2121+40G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999423G=CA1315400940COL3A1c.2022+40G= (n.2022+40G=)
c.2121+40G= (n.2121+40G=)
2g.188999423_188999424insTAAATAACCA2529709614COL3A1c.2022+40_2022+41insTAAATAAC (n.2022+40_2022+41insTAAATAAC)
c.2121+40_2121+41insTAAATAAC (n.2121+40_2121+41insTAAATAAC)
2g.188999424C=CA1315400941COL3A1c.2022+41C= (n.2022+41C=)
c.2121+41C= (n.2121+41C=)
2g.188999424C>TCA075008COL3A1c.2022+41C>T (n.2022+41C>T)
c.2121+41C>T (n.2121+41C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999425A>GCA2662309041COL3A1c.2022+42A>G (n.2022+42A>G)
c.2121+42A>G (n.2121+42A>G)
 gnomAD v4
2g.188999427T>ACA2550148193COL3A1c.2023-43T>A (n.2023-43T>A)
c.2122-43T>A (n.2122-43T>A)
2g.188999428T>CCA1315400943COL3A1c.2023-42T>C (n.2023-42T>C)
c.2122-42T>C (n.2122-42T>C)
 dbSNP gnomAD v4
2g.188999428T=CA1315400942COL3A1c.2023-42T= (n.2023-42T=)
c.2122-42T= (n.2122-42T=)
2g.188999429G=CA1315400944COL3A1c.2023-41G= (n.2023-41G=)
c.2122-41G= (n.2122-41G=)
2g.188999429G>TCA1315400945COL3A1c.2023-41G>T (n.2023-41G>T)
c.2122-41G>T (n.2122-41G>T)
 dbSNP
2g.188999431T>CCA1315400947COL3A1c.2023-39T>C (n.2023-39T>C)
c.2122-39T>C (n.2122-39T>C)
 dbSNP
2g.188999431T=CA1315400946COL3A1c.2023-39T= (n.2023-39T=)
c.2122-39T= (n.2122-39T=)
2g.188999432T>CCA1040409837COL3A1c.2023-38T>C (n.2023-38T>C)
c.2122-38T>C (n.2122-38T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.188999432T=CA1315400948COL3A1c.2023-38T= (n.2023-38T=)
c.2122-38T= (n.2122-38T=)
2g.188999434C>ACA2662309042COL3A1c.2023-36C>A (n.2023-36C>A)
c.2122-36C>A (n.2122-36C>A)
 gnomAD v4
2g.188999435C=CA1315400949COL3A1c.2023-35C= (n.2023-35C=)
c.2122-35C= (n.2122-35C=)
2g.188999435C>TCA075020COL3A1c.2023-35C>T (n.2023-35C>T)
c.2122-35C>T (n.2122-35C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999438C=CA1315400950COL3A1c.2023-32C= (n.2023-32C=)
c.2122-32C= (n.2122-32C=)
2g.188999438C>TCA075018COL3A1c.2023-32C>T (n.2023-32C>T)
c.2122-32C>T (n.2122-32C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999440G>ACA2753572434COL3A1c.2023-30G>A (n.2023-30G>A)
c.2122-30G>A (n.2122-30G>A)

Number of alleles fetched