Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188989409_188996315delCA281702COL3A1c.650_1564-83del
c.650_1663-83del
 ClinVar
2g.188994964_188998496delCA285891COL3A1c.1357-82_1879-178del
c.1456-82_1978-178del
 ClinVar
2g.188996173C>ACA349852514COL3A1c.1558C>A (p.Pro520Thr)
c.1657C>A (p.Pro553Thr)
 gnomAD v4
2g.188996173C=CA1315399300COL3A1c.1558C= (p.Pro520=)
c.1657C= (p.Pro553=)
2g.188996173C>GCA349852515COL3A1c.1558C>G (p.Pro520Ala)
c.1657C>G (p.Pro553Ala)
2g.188996173C>TCA074515COL3A1c.1558C>T (p.Pro520Ser)
c.1657C>T (p.Pro553Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188996174C>ACA349852516COL3A1c.1559C>A (p.Pro520His)
c.1658C>A (p.Pro553His)
 dbSNP gnomAD v4
2g.188996174C=CA1315399301COL3A1c.1559C= (p.Pro520=)
c.1658C= (p.Pro553=)
2g.188996174C>GCA349852518COL3A1c.1559C>G (p.Pro520Arg)
c.1658C>G (p.Pro553Arg)
2g.188996174C>TCA349852517COL3A1c.1559C>T (p.Pro520Leu)
c.1658C>T (p.Pro553Leu)
 ClinVar dbSNP gnomAD v4
2g.188996175T>ACA004397COL3A1c.1560T>A (p.Pro520=)
c.1659T>A (p.Pro553=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188996175T>CCA430309796COL3A1c.1560T>C (p.Pro520=)
c.1659T>C (p.Pro553=)
2g.188996175T>GCA430309797COL3A1c.1560T>G (p.Pro520=)
c.1659T>G (p.Pro553=)
 dbSNP
2g.188996175T=CA1315399302COL3A1c.1560T= (p.Pro520=)
c.1659T= (p.Pro553=)
2g.188996176C>ACA349852521COL3A1c.1561C>A (p.Pro521Thr)
c.1660C>A (p.Pro554Thr)
2g.188996176C=CA1315399303COL3A1c.1561C= (p.Pro521=)
c.1660C= (p.Pro554=)
2g.188996176C>GCA349852519COL3A1c.1561C>G (p.Pro521Ala)
c.1660C>G (p.Pro554Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188996176C>TCA349852520COL3A1c.1561C>T (p.Pro521Ser)
c.1660C>T (p.Pro554Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.188996177C>ACA349852522COL3A1c.1562C>A (p.Pro521His)
c.1661C>A (p.Pro554His)
 dbSNP gnomAD v3 gnomAD v4
2g.188996177C=CA1315399304COL3A1c.1562C= (p.Pro521=)
c.1661C= (p.Pro554=)
2g.188996177C>GCA349852523COL3A1c.1562C>G (p.Pro521Arg)
c.1661C>G (p.Pro554Arg)
2g.188996177C>TCA349852524COL3A1c.1562C>T (p.Pro521Leu)
c.1661C>T (p.Pro554Leu)
 ClinVar dbSNP gnomAD v4
2g.188996178C>ACA430309798COL3A1c.1563C>A (p.Pro521=)
c.1662C>A (p.Pro554=)
 dbSNP
2g.188996178C=CA1315399305COL3A1c.1563C= (p.Pro521=)
c.1662C= (p.Pro554=)
2g.188996178C>GCA62597390COL3A1c.1563C>G (p.Pro521=)
c.1662C>G (p.Pro554=)
 ClinVar dbSNP gnomAD v4
2g.188996178C>TCA074534COL3A1c.1563C>T (p.Pro521=)
c.1662C>T (p.Pro554=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188996179G>ACA004403COL3A1c.1563+1G>A (n.1563+1G>A)
c.1662+1G>A (n.1662+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.188996179G>CCA004410COL3A1c.1563+1G>C (n.1563+1G>C)
c.1662+1G>C (n.1662+1G>C)
 ClinVar dbSNP
2g.188996179G=CA1315399306COL3A1c.1563+1G= (n.1563+1G=)
c.1662+1G= (n.1662+1G=)
2g.188996179G>TCA004417COL3A1c.1563+1G>T (n.1563+1G>T)
c.1662+1G>T (n.1662+1G>T)
 ClinVar dbSNP
2g.188996179_188996180insGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGGTGCTCCTGGCA2753572152COL3A1c.1563+1_1563+2insGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGGTGCTCCTGG (n.1563+1_1563+2insGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGGTGCTCCTGG)
c.1662+1_1662+2insGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGGTGCTCCTGG (n.1662+1_1662+2insGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGGTGCTCCTGG)
2g.188996179_188996180insGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCCA2753572153COL3A1c.1563+1_1563+2insGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCC (n.1563+1_1563+2insGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCC)
c.1662+1_1662+2insGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCC (n.1662+1_1662+2insGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCC)
2g.188996180T>ACA349852525COL3A1c.1563+2T>A (n.1563+2T>A)
c.1662+2T>A (n.1662+2T>A)
 COSMIC
2g.188996180T>CCA349852526COL3A1c.1563+2T>C (n.1563+2T>C)
c.1662+2T>C (n.1662+2T>C)
2g.188996180T>GCA349852527COL3A1c.1563+2T>G (n.1563+2T>G)
c.1662+2T>G (n.1662+2T>G)
2g.188996180dupCA004423COL3A1c.1563+2dup (n.1563+2dup)
c.1662+2dup (n.1662+2dup)
 ClinVar dbSNP
2g.188996181_188996182insAAGGAAATGATGGCA2753572156COL3A1c.1563+3_1563+4insAAGGAAATGATGG (n.1563+3_1563+4insAAGGAAATGATGG)
c.1662+3_1662+4insAAGGAAATGATGG (n.1662+3_1662+4insAAGGAAATGATGG)
2g.188996182T>ACA2701045155COL3A1c.1563+4T>A (n.1563+4T>A)
c.1662+4T>A (n.1662+4T>A)
 dbSNP
2g.188996182T>CCA1139657562COL3A1c.1563+4T>C (n.1563+4T>C)
c.1662+4T>C (n.1662+4T>C)
 ClinVar dbSNP gnomAD v4
2g.188996182T>GCA762196947COL3A1c.1563+4T>G (n.1563+4T>G)
c.1662+4T>G (n.1662+4T>G)
 ClinVar dbSNP gnomAD v4
2g.188996182T=CA1315399307COL3A1c.1563+4T= (n.1563+4T=)
c.1662+4T= (n.1662+4T=)
2g.188996183G>ACA2586965518COL3A1c.1563+5G>A (n.1563+5G>A)
c.1662+5G>A (n.1662+5G>A)
2g.188996184T>CCA2573051816COL3A1c.1563+6T>C (n.1563+6T>C)
c.1662+6T>C (n.1662+6T>C)
 ClinVar dbSNP gnomAD v4
2g.188996184T>GCA2662289890COL3A1c.1563+6T>G (n.1563+6T>G)
c.1662+6T>G (n.1662+6T>G)
 gnomAD v4
2g.188996186_188996195delCA2662289891COL3A1c.1563+8_1563+17del (n.1563+8_1563+17del)
c.1662+8_1662+17del (n.1662+8_1662+17del)
 gnomAD v4
2g.188996186delCA2506679981COL3A1c.1563+8del (n.1563+8del)
c.1662+8del (n.1662+8del)
2g.188996186C>TCA2662289892COL3A1c.1563+8C>T (n.1563+8C>T)
c.1662+8C>T (n.1662+8C>T)
 gnomAD v4
2g.188996187A>GCA2577185455COL3A1c.1563+9A>G (n.1563+9A>G)
c.1662+9A>G (n.1662+9A>G)
 ClinVar
2g.188996188T>ACA538462351COL3A1c.1563+10T>A (n.1563+10T>A)
c.1662+10T>A (n.1662+10T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.188996188T>GCA2662289893COL3A1c.1563+10T>G (n.1563+10T>G)
c.1662+10T>G (n.1662+10T>G)
 gnomAD v4

Number of alleles fetched