Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188996436_189001956delCA916081383COL3A1c.1602_2293-342del
c.1701_2392-342del
 ClinVar
2g.188999321G>ACA349839994COL3A1c.1960G>A (p.Gly654Arg)
c.2059G>A (p.Gly687Arg)
2g.188999321G>CCA004946COL3A1c.1960G>C (p.Gly654Arg)
c.2059G>C (p.Gly687Arg)
 ClinVar dbSNP
2g.188999321G=CA1315400878COL3A1c.1960G= (p.Gly654=)
c.2059G= (p.Gly687=)
2g.188999321G>TCA349840001COL3A1c.1960G>T (p.Gly654Ter)
c.2059G>T (p.Gly687Ter)
 gnomAD v4
2g.188999322G>ACA349840006COL3A1c.1961G>A (p.Gly654Glu)
c.2060G>A (p.Gly687Glu)
2g.188999322G>CCA349840011COL3A1c.1961G>C (p.Gly654Ala)
c.2060G>C (p.Gly687Ala)
 ClinVar
2g.188999322G>TCA349840008COL3A1c.1961G>T (p.Gly654Val)
c.2060G>T (p.Gly687Val)
 gnomAD v4
2g.188999323A>CCA430310531COL3A1c.1962A>C (p.Gly654=)
c.2061A>C (p.Gly687=)
2g.188999323A>GCA430310532COL3A1c.1962A>G (p.Gly654=)
c.2061A>G (p.Gly687=)
2g.188999323A>TCA430310533COL3A1c.1962A>T (p.Gly654=)
c.2061A>T (p.Gly687=)
 gnomAD v4
2g.188999324T>ACA349840015COL3A1c.1963T>A (p.Leu655Met)
c.2062T>A (p.Leu688Met)
 gnomAD v4
2g.188999324T>CCA430310534COL3A1c.1963T>C (p.Leu655=)
c.2062T>C (p.Leu688=)
2g.188999324T>GCA349840018COL3A1c.1963T>G (p.Leu655Val)
c.2062T>G (p.Leu688Val)
2g.188999325T>ACA349840022COL3A1c.1964T>A (p.Leu655Ter)
c.2063T>A (p.Leu688Ter)
2g.188999325T>CCA349840024COL3A1c.1964T>C (p.Leu655Ser)
c.2063T>C (p.Leu688Ser)
 gnomAD v4
2g.188999325T>GCA349840028COL3A1c.1964T>G (p.Leu655Trp)
c.2063T>G (p.Leu688Trp)
 dbSNP
2g.188999325_188999331delinsTGGCAGGCA1315400879COL3A1c.1964_1970delinsTGGCAGG (p.Leu655=)
c.2063_2069delinsTGGCAGG (p.Leu688=)
2g.188999326G>ACA074969COL3A1c.1965G>A (p.Leu655=)
c.2064G>A (p.Leu688=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999326G>CCA349840035COL3A1c.1965G>C (p.Leu655Phe)
c.2064G>C (p.Leu688Phe)
2g.188999326G=CA1315400880COL3A1c.1965G= (p.Leu655=)
c.2064G= (p.Leu688=)
2g.188999326G>TCA349840044COL3A1c.1965G>T (p.Leu655Phe)
c.2064G>T (p.Leu688Phe)
 gnomAD v4
2g.188999329_188999334delCA915942287COL3A1c.1968_1973del (p.Gly657_Ala658del)
c.2067_2072del (p.Gly690_Ala691del)
 ClinVar dbSNP gnomAD v4
2g.188999327G>ACA349840049COL3A1c.1966G>A (p.Ala656Thr)
c.2065G>A (p.Ala689Thr)
 gnomAD v4
2g.188999327G>CCA349840053COL3A1c.1966G>C (p.Ala656Pro)
c.2065G>C (p.Ala689Pro)
2g.188999327G=CA1315400881COL3A1c.1966G= (p.Ala656=)
c.2065G= (p.Ala689=)
2g.188999327G>TCA10611757COL3A1c.1966G>T (p.Ala656Ser)
c.2065G>T (p.Ala689Ser)
 ClinVar dbSNP gnomAD v4
2g.188999328C>ACA349840059COL3A1c.1967C>A (p.Ala656Glu)
c.2066C>A (p.Ala689Glu)
 dbSNP gnomAD v4
2g.188999328C>GCA349840064COL3A1c.1967C>G (p.Ala656Gly)
c.2066C>G (p.Ala689Gly)
2g.188999328C>TCA349840061COL3A1c.1967C>T (p.Ala656Val)
c.2066C>T (p.Ala689Val)
 gnomAD v4
2g.188999329A=CA1315400882COL3A1c.1968A= (p.Ala656=)
c.2067A= (p.Ala689=)
2g.188999329A>CCA430310535COL3A1c.1968A>C (p.Ala656=)
c.2067A>C (p.Ala689=)
 dbSNP
2g.188999329A>GCA430310536COL3A1c.1968A>G (p.Ala656=)
c.2067A>G (p.Ala689=)
 gnomAD v4
2g.188999329A>TCA430310537COL3A1c.1968A>T (p.Ala656=)
c.2067A>T (p.Ala689=)
 gnomAD v4
2g.188999330G>ACA004953COL3A1c.1969G>A (p.Gly657Arg)
c.2068G>A (p.Gly690Arg)
 ClinVar dbSNP gnomAD v4
2g.188999330G>CCA349840073COL3A1c.1969G>C (p.Gly657Arg)
c.2068G>C (p.Gly690Arg)
2g.188999330G=CA1315400883COL3A1c.1969G= (p.Gly657=)
c.2068G= (p.Gly690=)
2g.188999330G>TCA349840075COL3A1c.1969G>T (p.Gly657Trp)
c.2068G>T (p.Gly690Trp)
 gnomAD v4
2g.188999333dupCA538467197COL3A1c.1972dup (p.Ala658GlyfsTer5)
c.2071dup (p.Ala691GlyfsTer5)
 dbSNP gnomAD v2
2g.188999331G>ACA349840081COL3A1c.1970G>A (p.Gly657Glu)
c.2069G>A (p.Gly690Glu)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.188999331G>CCA349840083COL3A1c.1970G>C (p.Gly657Ala)
c.2069G>C (p.Gly690Ala)
2g.188999331G=CA1315400884COL3A1c.1970G= (p.Gly657=)
c.2069G= (p.Gly690=)
2g.188999331G>TCA004964COL3A1c.1970G>T (p.Gly657Val)
c.2069G>T (p.Gly690Val)
 ClinVar dbSNP gnomAD v4
2g.188999332G>ACA430310538COL3A1c.1971G>A (p.Gly657=)
c.2070G>A (p.Gly690=)
 ClinVar dbSNP
2g.188999332G>CCA430310540COL3A1c.1971G>C (p.Gly657=)
c.2070G>C (p.Gly690=)
 gnomAD v4
2g.188999332G=CA1315400885COL3A1c.1971G= (p.Gly657=)
c.2070G= (p.Gly690=)
2g.188999332G>TCA430310539COL3A1c.1971G>T (p.Gly657=)
c.2070G>T (p.Gly690=)
 dbSNP gnomAD v3 gnomAD v4
2g.188999333G>ACA349840092COL3A1c.1972G>A (p.Ala658Thr)
c.2071G>A (p.Ala691Thr)
 gnomAD v4
2g.188999333G>CCA349840095COL3A1c.1972G>C (p.Ala658Pro)
c.2071G>C (p.Ala691Pro)
2g.188999333G=CA1315400886COL3A1c.1972G= (p.Ala658=)
c.2071G= (p.Ala691=)

Number of alleles fetched