Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188989409_188996315delCA281702COL3A1c.650_1564-83del
c.650_1663-83del
 ClinVar
2g.188992130C>ACA2577185266COL3A1c.952-54C>A (n.952-54C>A)
c.50-54C>A
2g.188992131A=CA1315397240COL3A1c.952-53A= (n.952-53A=)
c.50-53A=
2g.188992131A>CCA62593348COL3A1c.952-53A>C (n.952-53A>C)
c.50-53A>C
 dbSNP gnomAD v3 gnomAD v4
2g.188992132T>CCA2662288015COL3A1c.952-52T>C (n.952-52T>C)
c.50-52T>C
 gnomAD v4
2g.188992133G>CCA538441161COL3A1c.952-51G>C (n.952-51G>C)
c.50-51G>C
 dbSNP gnomAD v2 gnomAD v4
2g.188992133G=CA1315397242COL3A1c.952-51G= (n.952-51G=)
c.50-51G=
2g.188992133G>TCA2662288016COL3A1c.952-51G>T (n.952-51G>T)
c.50-51G>T
 gnomAD v4
2g.188992135C>ACA2662288019COL3A1c.952-49C>A (n.952-49C>A)
c.50-49C>A
 gnomAD v4
2g.188992135C>GCA2662288017COL3A1c.952-49C>G (n.952-49C>G)
c.50-49C>G
 gnomAD v4
2g.188992135C>TCA2662288018COL3A1c.952-49C>T (n.952-49C>T)
c.50-49C>T
 gnomAD v4
2g.188992136C>ACA077125COL3A1c.952-48C>A (n.952-48C>A)
c.50-48C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188992136C=CA1315397245COL3A1c.952-48C= (n.952-48C=)
c.50-48C=
2g.188992136C>GCA2662288020COL3A1c.952-48C>G (n.952-48C>G)
c.50-48C>G
 gnomAD v4
2g.188992136C>TCA2662288021COL3A1c.952-48C>T (n.952-48C>T)
c.50-48C>T
 gnomAD v4
2g.188992137A>TCA2662288022COL3A1c.952-47A>T (n.952-47A>T)
c.50-47A>T
 gnomAD v4
2g.188992138G>CCA1315397250COL3A1c.952-46G>C (n.952-46G>C)
c.50-46G>C
 dbSNP
2g.188992138G=CA1315397248COL3A1c.952-46G= (n.952-46G=)
c.50-46G=
2g.188992139C>ACA2662288024COL3A1c.952-45C>A (n.952-45C>A)
c.50-45C>A
 gnomAD v4
2g.188992140C>ACA2662288025COL3A1c.952-44C>A (n.952-44C>A)
c.50-44C>A
 gnomAD v4
2g.188992140C=CA1315397252COL3A1c.952-44C= (n.952-44C=)
c.50-44C=
2g.188992140C>TCA077123COL3A1c.952-44C>T (n.952-44C>T)
c.50-44C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188992142T>CCA077121COL3A1c.952-42T>C (n.952-42T>C)
c.50-42T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188992142T=CA1315397255COL3A1c.952-42T= (n.952-42T=)
c.50-42T=
2g.188992144C>ACA2662288026COL3A1c.952-40C>A (n.952-40C>A)
c.50-40C>A
 gnomAD v4
2g.188992144C=CA1315397258COL3A1c.952-40C= (n.952-40C=)
c.50-40C=
2g.188992144C>GCA647380785COL3A1c.952-40C>G (n.952-40C>G)
c.50-40C>G
 COSMIC
2g.188992144C>TCA538441162COL3A1c.952-40C>T (n.952-40C>T)
c.50-40C>T
 dbSNP gnomAD v2 gnomAD v4
2g.188992145A>CCA2662288028COL3A1c.952-39A>C (n.952-39A>C)
c.50-39A>C
 gnomAD v4
2g.188992145A>GCA2662288029COL3A1c.952-39A>G (n.952-39A>G)
c.50-39A>G
 gnomAD v4
2g.188992146G>ACA2662288030COL3A1c.952-38G>A (n.952-38G>A)
c.50-38G>A
 gnomAD v4
2g.188992146_188992147delinsGACA1315397260COL3A1c.952-38_952-37delinsGA (n.952-38_952-37delinsGA)
c.50-38_50-37delinsGA
2g.188992147A>CCA2662288031COL3A1c.952-37A>C (n.952-37A>C)
c.50-37A>C
 gnomAD v4
2g.188992148delCA077119COL3A1c.952-36del (n.952-36del)
c.50-36del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188992148A>GCA2662288032COL3A1c.952-36A>G (n.952-36A>G)
c.50-36A>G
 gnomAD v4
2g.188992149_188992154delinsTTAAAACA1315397264COL3A1c.952-35_952-30delinsTTAAAA (n.952-35_952-30delinsTTAAAA)
c.50-35_50-30delinsTTAAAA
2g.188992150T>CCA538441163COL3A1c.952-34T>C (n.952-34T>C)
c.50-34T>C
 dbSNP gnomAD v2 gnomAD v4
2g.188992150T>GCA538441164COL3A1c.952-34T>G (n.952-34T>G)
c.50-34T>G
 dbSNP gnomAD v2 gnomAD v4
2g.188992150T=CA1315397270COL3A1c.952-34T= (n.952-34T=)
c.50-34T=
2g.188992150_188992154delCA1315397268COL3A1c.952-34_952-30del (n.952-34_952-30del)
c.50-34_50-30del
 dbSNP gnomAD v4
2g.188992151A>TCA2701317104COL3A1c.952-33A>T (n.952-33A>T)
c.50-33A>T
 dbSNP
2g.188992154A>CCA2662288033COL3A1c.952-30A>C (n.952-30A>C)
c.50-30A>C
 gnomAD v4
2g.188992155G>ACA2662288034COL3A1c.952-29G>A (n.952-29G>A)
c.50-29G>A
 gnomAD v4
2g.188992156G>TCA2662288035COL3A1c.952-28G>T (n.952-28G>T)
c.50-28G>T
 gnomAD v4
2g.188992157A=CA1315397277COL3A1c.952-27A= (n.952-27A=)
c.50-27A=
2g.188992157A>CCA077117COL3A1c.952-27A>C (n.952-27A>C)
c.50-27A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188992157A>GCA538441165COL3A1c.952-27A>G (n.952-27A>G)
c.50-27A>G
 dbSNP gnomAD v2 gnomAD v4
2g.188992157A>TCA762193301COL3A1c.952-27A>T (n.952-27A>T)
c.50-27A>T
 dbSNP gnomAD v4
2g.188992158T>CCA1040405634COL3A1c.952-26T>C (n.952-26T>C)
c.50-26T>C
 dbSNP gnomAD v3 gnomAD v4
2g.188992158T=CA1315397280COL3A1c.952-26T= (n.952-26T=)
c.50-26T=

Number of alleles fetched