Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189000730_189007456delCA913190215COL3A1c.2185-667_3157-44del
c.2284-667_3256-44del
c.2284-667_2528-598del
 ClinVar
2g.189001289_189008107delCA913190216COL3A1c.2185-108_3391del
c.2284-108_3490del
c.2284-108_2581del
 ClinVar
2g.189001505_189006012delCA913189729COL3A1c.2239-31_2941-194del
c.2338-31_3040-194del
c.2338-31_2528-2042del
 ClinVar
2g.189003067G=CA1315402569COL3A1c.2454+5G= (n.2454+5G=)
c.2553+5G= (n.2553+5G=)
c.2527+31G= (n.2527+31G=)
2g.189003067G>TCA005487COL3A1c.2454+5G>T (n.2454+5G>T)
c.2553+5G>T (n.2553+5G>T)
c.2527+31G>T (n.2527+31G>T)
 ClinVar dbSNP
2g.189003069T>CCA62556418COL3A1c.2454+7T>C (n.2454+7T>C)
c.2553+7T>C (n.2553+7T>C)
c.2527+33T>C (n.2527+33T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003069T=CA1315402570COL3A1c.2454+7T= (n.2454+7T=)
c.2553+7T= (n.2553+7T=)
c.2527+33T= (n.2527+33T=)
2g.189003070C>TCA2662309705COL3A1c.2454+8C>T (n.2454+8C>T)
c.2553+8C>T (n.2553+8C>T)
c.2527+34C>T (n.2527+34C>T)
 gnomAD v4
2g.189003071C>ACA2662309706COL3A1c.2454+9C>A (n.2454+9C>A)
c.2553+9C>A (n.2553+9C>A)
c.2527+35C>A (n.2527+35C>A)
 gnomAD v4
2g.189003071C=CA1315402571COL3A1c.2454+9C= (n.2454+9C=)
c.2553+9C= (n.2553+9C=)
c.2527+35C= (n.2527+35C=)
2g.189003071C>GCA2662309707COL3A1c.2454+9C>G (n.2454+9C>G)
c.2553+9C>G (n.2553+9C>G)
c.2527+35C>G (n.2527+35C>G)
 gnomAD v4
2g.189003071C>TCA10603952COL3A1c.2454+9C>T (n.2454+9C>T)
c.2553+9C>T (n.2553+9C>T)
c.2527+35C>T (n.2527+35C>T)
 ClinVar dbSNP gnomAD v4
2g.189003072T>CCA2701315593COL3A1c.2454+10T>C (n.2454+10T>C)
c.2553+10T>C (n.2553+10T>C)
c.2527+36T>C (n.2527+36T>C)
 dbSNP
2g.189003073T>CCA538448855COL3A1c.2454+11T>C (n.2454+11T>C)
c.2553+11T>C (n.2553+11T>C)
c.2527+37T>C (n.2527+37T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189003073T=CA1315402572COL3A1c.2454+11T= (n.2454+11T=)
c.2553+11T= (n.2553+11T=)
c.2527+37T= (n.2527+37T=)
2g.189003074C>ACA2662309708COL3A1c.2454+12C>A (n.2454+12C>A)
c.2553+12C>A (n.2553+12C>A)
c.2527+38C>A (n.2527+38C>A)
 gnomAD v4
2g.189003074C=CA1315402573COL3A1c.2454+12C= (n.2454+12C=)
c.2553+12C= (n.2553+12C=)
c.2527+38C= (n.2527+38C=)
2g.189003074C>GCA2662309709COL3A1c.2454+12C>G (n.2454+12C>G)
c.2553+12C>G (n.2553+12C>G)
c.2527+38C>G (n.2527+38C>G)
 gnomAD v4
2g.189003074C>TCA075383COL3A1c.2454+12C>T (n.2454+12C>T)
c.2553+12C>T (n.2553+12C>T)
c.2527+38C>T (n.2527+38C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189003074_189003080delinsCCTCTTTCA1315402574COL3A1c.2454+12_2454+18delinsCCTCTTT (n.2454+12_2454+18delinsCCTCTTT)
c.2553+12_2553+18delinsCCTCTTT (n.2553+12_2553+18delinsCCTCTTT)
c.2527+38_2527+44delinsCCTCTTT (n.2527+38_2527+44delinsCCTCTTT)
2g.189003075C>ACA2662309710COL3A1c.2454+13C>A (n.2454+13C>A)
c.2553+13C>A (n.2553+13C>A)
c.2527+39C>A (n.2527+39C>A)
 gnomAD v4
2g.189003075C>TCA2662309711COL3A1c.2454+13C>T (n.2454+13C>T)
c.2553+13C>T (n.2553+13C>T)
c.2527+39C>T (n.2527+39C>T)
 gnomAD v4
2g.189003079_189003084delCA538448856COL3A1c.2454+17_2454+22del (n.2454+17_2454+22del)
c.2553+17_2553+22del (n.2553+17_2553+22del)
c.2527+43_2527+48del (n.2527+43_2527+48del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003077C>ACA2662309712COL3A1c.2454+15C>A (n.2454+15C>A)
c.2553+15C>A (n.2553+15C>A)
c.2527+41C>A (n.2527+41C>A)
 gnomAD v4
2g.189003077C=CA1315402575COL3A1c.2454+15C= (n.2454+15C=)
c.2553+15C= (n.2553+15C=)
c.2527+41C= (n.2527+41C=)
2g.189003077C>GCA2662309713COL3A1c.2454+15C>G (n.2454+15C>G)
c.2553+15C>G (n.2553+15C>G)
c.2527+41C>G (n.2527+41C>G)
 gnomAD v4
2g.189003077C>TCA1315402576COL3A1c.2454+15C>T (n.2454+15C>T)
c.2553+15C>T (n.2553+15C>T)
c.2527+41C>T (n.2527+41C>T)
 dbSNP gnomAD v4
2g.189003080dupCA2662309714COL3A1c.2454+18dup (n.2454+18dup)
c.2553+18dup (n.2553+18dup)
c.2527+44dup (n.2527+44dup)
 gnomAD v4
2g.189003080T>CCA2577185758COL3A1c.2454+18T>C (n.2454+18T>C)
c.2553+18T>C (n.2553+18T>C)
c.2527+44T>C (n.2527+44T>C)
 gnomAD v4
2g.189003080_189003081delinsTCCA1315402577COL3A1c.2454+18_2454+19delinsTC (n.2454+18_2454+19delinsTC)
c.2553+18_2553+19delinsTC (n.2553+18_2553+19delinsTC)
c.2527+44_2527+45delinsTC (n.2527+44_2527+45delinsTC)
2g.189003083_189003084delCA2697551436COL3A1c.2454+21_2454+22del (n.2454+21_2454+22del)
c.2553+21_2553+22del (n.2553+21_2553+22del)
c.2527+47_2527+48del (n.2527+47_2527+48del)
 ClinVar
2g.189003081delCA1315402579COL3A1c.2454+19del (n.2454+19del)
c.2553+19del (n.2553+19del)
c.2527+45del (n.2527+45del)
 dbSNP
2g.189003081C>ACA2662309715COL3A1c.2454+19C>A (n.2454+19C>A)
c.2553+19C>A (n.2553+19C>A)
c.2527+45C>A (n.2527+45C>A)
 gnomAD v4
2g.189003081C>TCA2662309716COL3A1c.2454+19C>T (n.2454+19C>T)
c.2553+19C>T (n.2553+19C>T)
c.2527+45C>T (n.2527+45C>T)
 gnomAD v4
2g.189003081_189003085delinsCTCTGCA1315402578COL3A1c.2454+19_2454+23delinsCTCTG (n.2454+19_2454+23delinsCTCTG)
c.2553+19_2553+23delinsCTCTG (n.2553+19_2553+23delinsCTCTG)
c.2527+45_2527+49delinsCTCTG (n.2527+45_2527+49delinsCTCTG)
2g.189003082T>CCA2662309718COL3A1c.2454+20T>C (n.2454+20T>C)
c.2553+20T>C (n.2553+20T>C)
c.2527+46T>C (n.2527+46T>C)
 gnomAD v4
2g.189003085_189003088delCA62556427COL3A1c.2454+23_2454+26del (n.2454+23_2454+26del)
c.2553+23_2553+26del (n.2553+23_2553+26del)
c.2527+49_2527+52del (n.2527+49_2527+52del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189003093_189003130delCA2662309717COL3A1c.2454+31_2454+68del (n.2454+31_2454+68del)
c.2553+31_2553+68del (n.2553+31_2553+68del)
c.2527+57_2527+94del (n.2527+57_2527+94del)
 gnomAD v4
2g.189003083C>ACA2662309719COL3A1c.2454+21C>A (n.2454+21C>A)
c.2553+21C>A (n.2553+21C>A)
c.2527+47C>A (n.2527+47C>A)
 gnomAD v4
2g.189003083C>GCA2701315595COL3A1c.2454+21C>G (n.2454+21C>G)
c.2553+21C>G (n.2553+21C>G)
c.2527+47C>G (n.2527+47C>G)
 dbSNP
2g.189003085G>ACA1315402581COL3A1c.2454+23G>A (n.2454+23G>A)
c.2553+23G>A (n.2553+23G>A)
c.2527+49G>A (n.2527+49G>A)
 dbSNP gnomAD v4
2g.189003085G=CA1315402580COL3A1c.2454+23G= (n.2454+23G=)
c.2553+23G= (n.2553+23G=)
c.2527+49G= (n.2527+49G=)
2g.189003085_189003089delinsGTCTACA1315402583COL3A1c.2454+23_2454+27delinsGTCTA (n.2454+23_2454+27delinsGTCTA)
c.2553+23_2553+27delinsGTCTA (n.2553+23_2553+27delinsGTCTA)
c.2527+49_2527+53delinsGTCTA (n.2527+49_2527+53delinsGTCTA)
2g.189003085_189003100delinsGTCTATCTATCTATCACA1315402582COL3A1c.2454+23_2454+38delinsGTCTATCTATCTATCA (n.2454+23_2454+38delinsGTCTATCTATCTATCA)
c.2553+23_2553+38delinsGTCTATCTATCTATCA (n.2553+23_2553+38delinsGTCTATCTATCTATCA)
c.2527+49_2527+64delinsGTCTATCTATCTATCA (n.2527+49_2527+64delinsGTCTATCTATCTATCA)
2g.189003086T>ACA2577185759COL3A1c.2454+24T>A (n.2454+24T>A)
c.2553+24T>A (n.2553+24T>A)
c.2527+50T>A (n.2527+50T>A)
2g.189003096_189003099dupCA62556431COL3A1c.2454+34_2454+37dup (n.2454+34_2454+37dup)
c.2553+34_2553+37dup (n.2553+34_2553+37dup)
c.2527+60_2527+63dup (n.2527+60_2527+63dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003096_189003099delCA538448858COL3A1c.2454+34_2454+37del (n.2454+34_2454+37del)
c.2553+34_2553+37del (n.2553+34_2553+37del)
c.2527+60_2527+63del (n.2527+60_2527+63del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003099_189003113dupCA1315402584COL3A1c.2454+37_2454+51dup (n.2454+37_2454+51dup)
c.2553+37_2553+51dup (n.2553+37_2553+51dup)
c.2527+63_2527+77dup (n.2527+63_2527+77dup)
 dbSNP gnomAD v4
2g.189003099_189003113delCA538448857COL3A1c.2454+37_2454+51del (n.2454+37_2454+51del)
c.2553+37_2553+51del (n.2553+37_2553+51del)
c.2527+63_2527+77del (n.2527+63_2527+77del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003087C>ACA2662309720COL3A1c.2454+25C>A (n.2454+25C>A)
c.2553+25C>A (n.2553+25C>A)
c.2527+51C>A (n.2527+51C>A)
 gnomAD v4

Number of alleles fetched