Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189008952G>ACA006649COL3A1c.3455G>A (p.Gly1152Asp)
c.3554G>A (p.Gly1185Asp)
c.2645G>A (p.Gly882Asp)
n.651G>A
 ClinVar dbSNP
2g.189008952G>CCA349846628COL3A1c.3455G>C (p.Gly1152Ala)
c.3554G>C (p.Gly1185Ala)
c.2645G>C (p.Gly882Ala)
n.651G>C
 gnomAD v4
2g.189008952G=CA1315405490COL3A1c.3455G= (p.Gly1152=)
c.3554G= (p.Gly1185=)
c.2645G= (p.Gly882=)
n.651G=
2g.189008952G>TCA006657COL3A1c.3455G>T (p.Gly1152Val)
c.3554G>T (p.Gly1185Val)
c.2645G>T (p.Gly882Val)
n.651G>T
 ClinVar dbSNP
2g.189008953C>ACA430406539COL3A1c.3456C>A (p.Gly1152=)
c.3555C>A (p.Gly1185=)
c.2646C>A (p.Gly882=)
n.652C>A
 gnomAD v4
2g.189008953C=CA1315405491COL3A1c.3456C= (p.Gly1152=)
c.3555C= (p.Gly1185=)
c.2646C= (p.Gly882=)
n.652C=
2g.189008953C>GCA430406540COL3A1c.3456C>G (p.Gly1152=)
c.3555C>G (p.Gly1185=)
c.2646C>G (p.Gly882=)
n.652C>G
 dbSNP
2g.189008953C>TCA430406541COL3A1c.3456C>T (p.Gly1152=)
c.3555C>T (p.Gly1185=)
c.2646C>T (p.Gly882=)
n.652C>T
 gnomAD v4
2g.189008954C>ACA349846629COL3A1c.3457C>A (p.Pro1153Thr)
c.3556C>A (p.Pro1186Thr)
c.2647C>A (p.Pro883Thr)
n.653C>A
2g.189008954C>GCA349846630COL3A1c.3457C>G (p.Pro1153Ala)
c.3556C>G (p.Pro1186Ala)
c.2647C>G (p.Pro883Ala)
n.653C>G
2g.189008954C>TCA349846631COL3A1c.3457C>T (p.Pro1153Ser)
c.3556C>T (p.Pro1186Ser)
c.2647C>T (p.Pro883Ser)
n.653C>T
 gnomAD v4 COSMIC COSMIC
2g.189008955C>ACA349846632COL3A1c.3458C>A (p.Pro1153His)
c.3557C>A (p.Pro1186His)
c.2648C>A (p.Pro883His)
n.654C>A
2g.189008955C>GCA349846634COL3A1c.3458C>G (p.Pro1153Arg)
c.3557C>G (p.Pro1186Arg)
c.2648C>G (p.Pro883Arg)
n.654C>G
2g.189008955C>TCA349846633COL3A1c.3458C>T (p.Pro1153Leu)
c.3557C>T (p.Pro1186Leu)
c.2648C>T (p.Pro883Leu)
n.654C>T
2g.189008956T>ACA430406542COL3A1c.3459T>A (p.Pro1153=)
c.3558T>A (p.Pro1186=)
c.2649T>A (p.Pro883=)
n.655T>A
2g.189008956T>CCA430406543COL3A1c.3459T>C (p.Pro1153=)
c.3558T>C (p.Pro1186=)
c.2649T>C (p.Pro883=)
n.655T>C
2g.189008956T>GCA430406544COL3A1c.3459T>G (p.Pro1153=)
c.3558T>G (p.Pro1186=)
c.2649T>G (p.Pro883=)
n.655T>G
2g.189008957C>ACA349846635COL3A1c.3460C>A (p.Pro1154Thr)
c.3559C>A (p.Pro1187Thr)
c.2650C>A (p.Pro884Thr)
n.656C>A
2g.189008957C>GCA349846637COL3A1c.3460C>G (p.Pro1154Ala)
c.3559C>G (p.Pro1187Ala)
c.2650C>G (p.Pro884Ala)
n.656C>G
2g.189008957C>TCA349846636COL3A1c.3460C>T (p.Pro1154Ser)
c.3559C>T (p.Pro1187Ser)
c.2650C>T (p.Pro884Ser)
n.656C>T
 ClinVar dbSNP
2g.189008958C>ACA349846638COL3A1c.3461C>A (p.Pro1154His)
c.3560C>A (p.Pro1187His)
c.2651C>A (p.Pro884His)
n.657C>A
 ClinVar
2g.189008958C>GCA349846640COL3A1c.3461C>G (p.Pro1154Arg)
c.3560C>G (p.Pro1187Arg)
c.2651C>G (p.Pro884Arg)
n.657C>G
2g.189008958C>TCA349846639COL3A1c.3461C>T (p.Pro1154Leu)
c.3560C>T (p.Pro1187Leu)
c.2651C>T (p.Pro884Leu)
n.657C>T
 COSMIC
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

Number of alleles fetched