Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188989409_188996315delCA281702COL3A1c.650_1564-83del
c.650_1663-83del
 ClinVar
2g.188991863T>GCA2662287961COL3A1c.951+141T>G (n.951+141T>G)
c.49+141T>G
 gnomAD v4
2g.188991864T>ACA2753572054COL3A1c.951+142T>A (n.951+142T>A)
c.49+142T>A
2g.188991864T>CCA1315397033COL3A1c.951+142T>C (n.951+142T>C)
c.49+142T>C
 dbSNP
2g.188991864T=CA1315397031COL3A1c.951+142T= (n.951+142T=)
c.49+142T=
2g.188991866G>ACA1315397035COL3A1c.951+144G>A (n.951+144G>A)
c.49+144G>A
 dbSNP
2g.188991866G=CA1315397037COL3A1c.951+144G= (n.951+144G=)
c.49+144G=
2g.188991867C>ACA2662287962COL3A1c.951+145C>A (n.951+145C>A)
c.49+145C>A
 gnomAD v4
2g.188991868T>ACA2662287963COL3A1c.951+146T>A (n.951+146T>A)
c.49+146T>A
 gnomAD v4
2g.188991869A>GCA2753572055COL3A1c.951+147A>G (n.951+147A>G)
c.49+147A>G
2g.188991872G>ACA2662287965COL3A1c.951+150G>A (n.951+150G>A)
c.49+150G>A
 gnomAD v4
2g.188991872G>TCA2662287966COL3A1c.951+150G>T (n.951+150G>T)
c.49+150G>T
 gnomAD v4
2g.188991873T>ACA2662287967COL3A1c.951+151T>A (n.951+151T>A)
c.49+151T>A
 gnomAD v4
2g.188991874T>ACA2662287968COL3A1c.951+152T>A (n.951+152T>A)
c.49+152T>A
 gnomAD v4
2g.188991877A=CA1315397040COL3A1c.951+155A= (n.951+155A=)
c.49+155A=
2g.188991877A>GCA62593182COL3A1c.951+155A>G (n.951+155A>G)
c.49+155A>G
 dbSNP
2g.188991882A=CA1315397042COL3A1c.951+160A= (n.951+160A=)
c.49+160A=
2g.188991882A>GCA62593186COL3A1c.951+160A>G (n.951+160A>G)
c.49+160A>G
 dbSNP
2g.188991885_188991898delinsGAATAATTGTTTTACA1315397044COL3A1c.951+163_951+176delinsGAATAATTGTTTTA (n.951+163_951+176delinsGAATAATTGTTTTA)
c.49+163_49+176delinsGAATAATTGTTTTA
2g.188991886_188991898delCA1315397046COL3A1c.951+164_951+176del (n.951+164_951+176del)
c.49+164_49+176del
 dbSNP
2g.188991891T>CCA62593191COL3A1c.951+169T>C (n.951+169T>C)
c.49+169T>C
 dbSNP gnomAD v3 gnomAD v4
2g.188991891T=CA1315397048COL3A1c.951+169T= (n.951+169T=)
c.49+169T=
2g.188991891_188991892insGATAACA2753572056COL3A1c.951+169_951+170insGATAA (n.951+169_951+170insGATAA)
c.49+169_49+170insGATAA
2g.188991893G>ACA62593199COL3A1c.951+171G>A (n.951+171G>A)
c.49+171G>A
 dbSNP
2g.188991893G=CA1315397056COL3A1c.951+171G= (n.951+171G=)
c.49+171G=
2g.188991893G>TCA647380770COL3A1c.951+171G>T (n.951+171G>T)
c.49+171G>T
 COSMIC
2g.188991894T>ACA2753572057COL3A1c.951+172T>A (n.951+172T>A)
c.49+172T>A
2g.188991899C=CA1315397059COL3A1c.951+177C= (n.951+177C=)
c.49+177C=
2g.188991899C>TCA62593207COL3A1c.951+177C>T (n.951+177C>T)
c.49+177C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188991901A=CA1315397065COL3A1c.951+179A= (n.951+179A=)
c.49+179A=
2g.188991901A>GCA62593231COL3A1c.951+179A>G (n.951+179A>G)
c.49+179A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188991901A>TCA762193236COL3A1c.951+179A>T (n.951+179A>T)
c.49+179A>T
 dbSNP gnomAD v3 gnomAD v4
2g.188991904A=CA1315397071COL3A1c.951+182A= (n.951+182A=)
c.49+182A=
2g.188991904A>GCA62593235COL3A1c.951+182A>G (n.951+182A>G)
c.49+182A>G
 dbSNP gnomAD v3 gnomAD v4
2g.188991905T>CCA62593237COL3A1c.951+183T>C (n.951+183T>C)
c.49+183T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188991905T=CA1315397075COL3A1c.951+183T= (n.951+183T=)
c.49+183T=
2g.188991908T>CCA1040405564COL3A1c.951+186T>C (n.951+186T>C)
c.49+186T>C
 dbSNP gnomAD v3 gnomAD v4
2g.188991908T=CA1315397077COL3A1c.951+186T= (n.951+186T=)
c.49+186T=
2g.188991909C=CA1315397078COL3A1c.951+187C= (n.951+187C=)
c.49+187C=
2g.188991909C>TCA62593238COL3A1c.951+187C>T (n.951+187C>T)
c.49+187C>T
 dbSNP
2g.188991911C=CA1315397081COL3A1c.951+189C= (n.951+189C=)
c.49+189C=
2g.188991911C>GCA62593240COL3A1c.951+189C>G (n.951+189C>G)
c.49+189C>G
 dbSNP
2g.188991911_188991913delinsCTACA1315397083COL3A1c.951+189_951+191delinsCTA (n.951+189_951+191delinsCTA)
c.49+189_49+191delinsCTA
2g.188991913_188991914delCA538441153COL3A1c.951+191_951+192del (n.951+191_951+192del)
c.49+191_49+192del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188991913A=CA1315397085COL3A1c.951+191A= (n.951+191A=)
c.49+191A=
2g.188991913A>GCA62593242COL3A1c.951+191A>G (n.951+191A>G)
c.49+191A>G
 dbSNP gnomAD v3 gnomAD v4
2g.188991918G=CA1315397089COL3A1c.951+196G= (n.951+196G=)
c.49+196G=
2g.188991918G>TCA1315397087COL3A1c.951+196G>T (n.951+196G>T)
c.49+196G>T
 dbSNP
2g.188991919A>GCA2701316883COL3A1c.951+197A>G (n.951+197A>G)
c.49+197A>G
 dbSNP
2g.188991925_188991926delinsTGCA1315397091COL3A1c.951+203_951+204delinsTG (n.951+203_951+204delinsTG)
c.49+203_49+204delinsTG
2g.188991926delCA914528209COL3A1c.951+204del (n.951+204del)
c.49+204del
 dbSNP gnomAD v2
2g.188991926G>ACA762193247COL3A1c.951+204G>A (n.951+204G>A)
c.49+204G>A
 dbSNP gnomAD v3 gnomAD v4
2g.188991926G=CA1315397094COL3A1c.951+204G= (n.951+204G=)
c.49+204G=
2g.188991926G>TCA1040405567COL3A1c.951+204G>T (n.951+204G>T)
c.49+204G>T
 gnomAD v3 gnomAD v4
2g.188991928G>ACA62593244COL3A1c.951+206G>A (n.951+206G>A)
c.49+206G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188991928G=CA1315397097COL3A1c.951+206G= (n.951+206G=)
c.49+206G=
2g.188991928G>TCA762193251COL3A1c.951+206G>T (n.951+206G>T)
c.49+206G>T
 dbSNP gnomAD v3 gnomAD v4
2g.188991933C>ACA1315397099COL3A1c.951+211C>A (n.951+211C>A)
c.49+211C>A
 dbSNP
2g.188991933C=CA1315397100COL3A1c.951+211C= (n.951+211C=)
c.49+211C=
2g.188991941_188991942delinsATCA1315397102COL3A1c.951+219_951+220delinsAT (n.951+219_951+220delinsAT)
c.49+219_49+220delinsAT
2g.188991942delCA538441154COL3A1c.951+220del (n.951+220del)
c.49+220del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188991942T>CCA62593251COL3A1c.951+220T>C (n.951+220T>C)
c.49+220T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188991942T=CA1315397107COL3A1c.951+220T= (n.951+220T=)
c.49+220T=
2g.188991945C>ACA2740085121COL3A1c.951+223C>A (n.951+223C>A)
c.49+223C>A
2g.188991945C=CA1315397113COL3A1c.951+223C= (n.951+223C=)
c.49+223C=
2g.188991945C>GCA2740085120COL3A1c.951+223C>G (n.951+223C>G)
c.49+223C>G
2g.188991945C>TCA62593253COL3A1c.951+223C>T (n.951+223C>T)
c.49+223C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188991948T>ACA62593262COL3A1c.951+226T>A (n.951+226T>A)
c.49+226T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188991948T=CA1315397117COL3A1c.951+226T= (n.951+226T=)
c.49+226T=
2g.188991955A=CA1315397123COL3A1c.952-229A= (n.952-229A=)
c.50-229A=
2g.188991955A>GCA538441155COL3A1c.952-229A>G (n.952-229A>G)
c.50-229A>G
 dbSNP gnomAD v2
2g.188991955A>TCA762193256COL3A1c.952-229A>T (n.952-229A>T)
c.50-229A>T
 dbSNP
2g.188991958A=CA1315397128COL3A1c.952-226A= (n.952-226A=)
c.50-226A=
2g.188991958A>GCA1315397127COL3A1c.952-226A>G (n.952-226A>G)
c.50-226A>G
 dbSNP
2g.188991960A>GCA2509542029COL3A1c.952-224A>G (n.952-224A>G)
c.50-224A>G

Number of alleles fetched