Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188989409_188996315delCA281702COL3A1c.650_1564-83del
c.650_1663-83del
 ClinVar
2g.188991838T>CCA2662287937COL3A1c.951+116T>C (n.951+116T>C)
c.49+116T>C
 gnomAD v4
2g.188991838T>GCA2662287938COL3A1c.951+116T>G (n.951+116T>G)
c.49+116T>G
 gnomAD v4
2g.188991839A>GCA2662287939COL3A1c.951+117A>G (n.951+117A>G)
c.49+117A>G
 gnomAD v4
2g.188991839A>TCA2662287940COL3A1c.951+117A>T (n.951+117A>T)
c.49+117A>T
 gnomAD v4
2g.188991840C>ACA2662287941COL3A1c.951+118C>A (n.951+118C>A)
c.49+118C>A
 gnomAD v4
2g.188991841T>CCA762193227COL3A1c.951+119T>C (n.951+119T>C)
c.49+119T>C
 dbSNP gnomAD v4
2g.188991841T>GCA2662287942COL3A1c.951+119T>G (n.951+119T>G)
c.49+119T>G
 gnomAD v4
2g.188991841T=CA1315397012COL3A1c.951+119T= (n.951+119T=)
c.49+119T=
2g.188991842C>ACA2662287943COL3A1c.951+120C>A (n.951+120C>A)
c.49+120C>A
 gnomAD v4
2g.188991842_188991845delinsCAATCA1315397014COL3A1c.951+120_951+123delinsCAAT (n.951+120_951+123delinsCAAT)
c.49+120_49+123delinsCAAT
2g.188991843A>CCA2662287944COL3A1c.951+121A>C (n.951+121A>C)
c.49+121A>C
 gnomAD v4
2g.188991843_188991845delCA1315397016COL3A1c.951+121_951+123del (n.951+121_951+123del)
c.49+121_49+123del
 dbSNP
2g.188991844A>CCA2662287945COL3A1c.951+122A>C (n.951+122A>C)
c.49+122A>C
 gnomAD v4
2g.188991844A>GCA2662287946COL3A1c.951+122A>G (n.951+122A>G)
c.49+122A>G
 gnomAD v4
2g.188991845T>GCA2662287947COL3A1c.951+123T>G (n.951+123T>G)
c.49+123T>G
 gnomAD v4
2g.188991846G>TCA2662287948COL3A1c.951+124G>T (n.951+124G>T)
c.49+124G>T
 gnomAD v4
2g.188991848T>CCA1315397020COL3A1c.951+126T>C (n.951+126T>C)
c.49+126T>C
 dbSNP
2g.188991848T=CA1315397018COL3A1c.951+126T= (n.951+126T=)
c.49+126T=
2g.188991849A>GCA2662287949COL3A1c.951+127A>G (n.951+127A>G)
c.49+127A>G
 gnomAD v4
2g.188991850C>ACA2662287950COL3A1c.951+128C>A (n.951+128C>A)
c.49+128C>A
 gnomAD v4
2g.188991850C>TCA2662287951COL3A1c.951+128C>T (n.951+128C>T)
c.49+128C>T
 gnomAD v4
2g.188991852G>ACA1315397021COL3A1c.951+130G>A (n.951+130G>A)
c.49+130G>A
 dbSNP
2g.188991852G=CA1315397022COL3A1c.951+130G= (n.951+130G=)
c.49+130G=
2g.188991852G>TCA2662287952COL3A1c.951+130G>T (n.951+130G>T)
c.49+130G>T
 gnomAD v4
2g.188991853T>ACA2662287953COL3A1c.951+131T>A (n.951+131T>A)
c.49+131T>A
 gnomAD v4
2g.188991854G>TCA2662287954COL3A1c.951+132G>T (n.951+132G>T)
c.49+132G>T
 gnomAD v4
2g.188991855A=CA1315397024COL3A1c.951+133A= (n.951+133A=)
c.49+133A=
2g.188991855A>GCA2662287955COL3A1c.951+133A>G (n.951+133A>G)
c.49+133A>G
 gnomAD v4
2g.188991855A>TCA1315397025COL3A1c.951+133A>T (n.951+133A>T)
c.49+133A>T
 dbSNP gnomAD v4
2g.188991858A>CCA2662287956COL3A1c.951+136A>C (n.951+136A>C)
c.49+136A>C
 gnomAD v4
2g.188991860G>ACA2662287957COL3A1c.951+138G>A (n.951+138G>A)
c.49+138G>A
 gnomAD v4
2g.188991861T>ACA2662287958COL3A1c.951+139T>A (n.951+139T>A)
c.49+139T>A
 gnomAD v4
2g.188991861T>CCA2662287960COL3A1c.951+139T>C (n.951+139T>C)
c.49+139T>C
 gnomAD v4
2g.188991861T>GCA1040405550COL3A1c.951+139T>G (n.951+139T>G)
c.49+139T>G
 dbSNP gnomAD v3 gnomAD v4
2g.188991861T=CA1315397026COL3A1c.951+139T= (n.951+139T=)
c.49+139T=
2g.188991862T>CCA1315397029COL3A1c.951+140T>C (n.951+140T>C)
c.49+140T>C
 dbSNP gnomAD v4
2g.188991862T=CA1315397027COL3A1c.951+140T= (n.951+140T=)
c.49+140T=
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=

Number of alleles fetched