Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188996436_189001956delCA916081383COL3A1c.1602_2293-342del
c.1701_2392-342del
ClinVar
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?)
2g.188999354_188999360delinsACTGTTCA2697551450COL3A1c.1993_1999delinsACTGTT (p.Ala665ThrfsTer?)
c.2092_2098delinsACTGTT (p.Ala698ThrfsTer?)
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)
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)
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=)

Number of alleles fetched