Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188989409_188996315delCA281702COL3A1c.650_1564-83del
c.650_1663-83del
 ClinVar
2g.188991579T>CCA2577185239COL3A1c.897+48T>C (n.897+48T>C)
 gnomAD v4
2g.188991580T>CCA2662287851COL3A1c.897+49T>C (n.897+49T>C)
 gnomAD v4
2g.188991581G>ACA538441144COL3A1c.897+50G>A (n.897+50G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.188991581G=CA1315396683COL3A1c.897+50G= (n.897+50G=)
2g.188991582T>CCA2577185240COL3A1c.897+51T>C (n.897+51T>C)
2g.188991585C=CA1315396684COL3A1c.897+54C= (n.897+54C=)
2g.188991585C>GCA62592850COL3A1c.897+54C>G (n.897+54C>G)
 dbSNP gnomAD v4
2g.188991586delCA2662287852COL3A1c.897+55del (n.897+55del)
 gnomAD v4
2g.188991587T>CCA2662287853COL3A1c.897+56T>C (n.897+56T>C)
 gnomAD v4
2g.188991587T=CA1315396686COL3A1c.897+56T= (n.897+56T=)
2g.188991591dupCA1315396687COL3A1c.897+60dup (n.897+60dup)
 dbSNP
2g.188991588_188991606delCA2577185241COL3A1c.897+57_898-63del (n.897+57_898-63del)
2g.188991591A=CA1315396688COL3A1c.897+60A= (n.897+60A=)
2g.188991591A>GCA62592869COL3A1c.897+60A>G (n.897+60A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.188991592C=CA1315396689COL3A1c.897+61C= (n.897+61C=)
2g.188991592C>GCA1040405452COL3A1c.897+61C>G (n.897+61C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.188991592C>TCA2662287854COL3A1c.897+61C>T (n.897+61C>T)
 gnomAD v4
2g.188991593T>CCA2662287855COL3A1c.897+62T>C (n.897+62T>C)
 gnomAD v4
2g.188991596_188991598delinsCTTCA1315396690COL3A1c.897+65_897+67delinsCTT (n.897+65_897+67delinsCTT)
2g.188991598_188991599delCA62592874COL3A1c.897+67_897+68del (n.897+67_897+68del)
 dbSNP gnomAD v3 gnomAD v4
2g.188991600G>ACA62592898COL3A1c.898-69G>A (n.898-69G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188991600G>CCA62592904COL3A1c.898-69G>C (n.898-69G>C)
 dbSNP gnomAD v3 gnomAD v4
2g.188991600G=CA1315396692COL3A1c.898-69G= (n.898-69G=)
2g.188991601C=CA1315396693COL3A1c.898-68C= (n.898-68C=)
2g.188991601C>GCA62592910COL3A1c.898-68C>G (n.898-68C>G)
 dbSNP
2g.188991601C>TCA1315396694COL3A1c.898-68C>T (n.898-68C>T)
 dbSNP gnomAD v4
2g.188991602T>GCA2541590577COL3A1c.898-67T>G (n.898-67T>G)
2g.188991603C>ACA2526215303COL3A1c.898-66C>A (n.898-66C>A)
2g.188991603C=CA1315396696COL3A1c.898-66C= (n.898-66C=)
2g.188991603C>TCA1315396697COL3A1c.898-66C>T (n.898-66C>T)
 dbSNP gnomAD v4
2g.188991605dupCA2662287857COL3A1c.898-64dup (n.898-64dup)
 gnomAD v4
2g.188991605C=CA1315396698COL3A1c.898-64C= (n.898-64C=)
2g.188991605C>TCA1040405460COL3A1c.898-64C>T (n.898-64C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.188991606_188991607delinsACCA1315396699COL3A1c.898-63_898-62delinsAC (n.898-63_898-62delinsAC)
2g.188991607C>ACA62592916COL3A1c.898-62C>A (n.898-62C>A)
 dbSNP gnomAD v4
2g.188991607C=CA1315396700COL3A1c.898-62C= (n.898-62C=)
2g.188991607C>TCA762192981COL3A1c.898-62C>T (n.898-62C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.188991610delCA1315396701COL3A1c.898-59del (n.898-59del)
 dbSNP
2g.188991608C>ACA2577185242COL3A1c.898-61C>A (n.898-61C>A)
2g.188991609C>ACA62592920COL3A1c.898-60C>A (n.898-60C>A)
 dbSNP
2g.188991609C=CA1315396702COL3A1c.898-60C= (n.898-60C=)
2g.188991610C=CA1315396703COL3A1c.898-59C= (n.898-59C=)
2g.188991610C>TCA2662287858COL3A1c.898-59C>T (n.898-59C>T)
 gnomAD v4
2g.188991612_188991633dupCA1315396705COL3A1c.898-57_898-36dup (n.898-57_898-36dup)
 dbSNP
2g.188991612A>GCA2662287859COL3A1c.898-57A>G (n.898-57A>G)
 gnomAD v4
2g.188991612_188991614delCA2505740970COL3A1c.898-57_898-55del (n.898-57_898-55del)
2g.188991615G>ACA2662287860COL3A1c.898-54G>A (n.898-54G>A)
 gnomAD v4
2g.188991616T>ACA2547253335COL3A1c.898-53T>A (n.898-53T>A)
2g.188991616T>CCA62592932COL3A1c.898-53T>C (n.898-53T>C)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched