Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188996436_189001956delCA916081383COL3A1c.1602_2293-342del
c.1701_2392-342del
 ClinVar
2g.188999305T>ACA430310516COL3A1c.1944T>A (p.Gly648=)
c.2043T>A (p.Gly681=)
2g.188999305T>CCA074954COL3A1c.1944T>C (p.Gly648=)
c.2043T>C (p.Gly681=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999305T>GCA430310517COL3A1c.1944T>G (p.Gly648=)
c.2043T>G (p.Gly681=)
2g.188999305T=CA1315400871COL3A1c.1944T= (p.Gly648=)
c.2043T= (p.Gly681=)
2g.188999306G>ACA349839882COL3A1c.1945G>A (p.Glu649Lys)
c.2044G>A (p.Glu682Lys)
 ClinVar dbSNP gnomAD v4
2g.188999306G>CCA349839884COL3A1c.1945G>C (p.Glu649Gln)
c.2044G>C (p.Glu682Gln)
2g.188999306G>TCA349839876COL3A1c.1945G>T (p.Glu649Ter)
c.2044G>T (p.Glu682Ter)
 gnomAD v4
2g.188999307A>CCA349839890COL3A1c.1946A>C (p.Glu649Ala)
c.2045A>C (p.Glu682Ala)
2g.188999307A>GCA349839893COL3A1c.1946A>G (p.Glu649Gly)
c.2045A>G (p.Glu682Gly)
 gnomAD v4
2g.188999307A>TCA349839895COL3A1c.1946A>T (p.Glu649Val)
c.2045A>T (p.Glu682Val)
 gnomAD v4
2g.188999308A=CA1315400872COL3A1c.1947A= (p.Glu649=)
c.2046A= (p.Glu682=)
2g.188999308A>CCA349839899COL3A1c.1947A>C (p.Glu649Asp)
c.2046A>C (p.Glu682Asp)
 COSMIC COSMIC
2g.188999308A>GCA430310518COL3A1c.1947A>G (p.Glu649=)
c.2046A>G (p.Glu682=)
2g.188999308A>TCA349839901COL3A1c.1947A>T (p.Glu649Asp)
c.2046A>T (p.Glu682Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.188999309C>ACA349839913COL3A1c.1948C>A (p.Arg650Ser)
c.2047C>A (p.Arg683Ser)
 COSMIC COSMIC
2g.188999309C=CA1315400873COL3A1c.1948C= (p.Arg650=)
c.2047C= (p.Arg683=)
2g.188999309C>GCA349839906COL3A1c.1948C>G (p.Arg650Gly)
c.2047C>G (p.Arg683Gly)
2g.188999309C>TCA349839909COL3A1c.1948C>T (p.Arg650Cys)
c.2047C>T (p.Arg683Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188999310G>ACA074957COL3A1c.1949G>A (p.Arg650His)
c.2048G>A (p.Arg683His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999310G>CCA349839921COL3A1c.1949G>C (p.Arg650Pro)
c.2048G>C (p.Arg683Pro)
2g.188999310G=CA1315400874COL3A1c.1949G= (p.Arg650=)
c.2048G= (p.Arg683=)
2g.188999310G>TCA349839923COL3A1c.1949G>T (p.Arg650Leu)
c.2048G>T (p.Arg683Leu)
 gnomAD v4
2g.188999311T>ACA430310520COL3A1c.1950T>A (p.Arg650=)
c.2049T>A (p.Arg683=)
2g.188999311T>CCA430310521COL3A1c.1950T>C (p.Arg650=)
c.2049T>C (p.Arg683=)
 gnomAD v4
2g.188999311T>GCA430310519COL3A1c.1950T>G (p.Arg650=)
c.2049T>G (p.Arg683=)
2g.188999312G>ACA349839928COL3A1c.1951G>A (p.Gly651Arg)
c.2050G>A (p.Gly684Arg)
 gnomAD v4
2g.188999312G>CCA349839932COL3A1c.1951G>C (p.Gly651Arg)
c.2050G>C (p.Gly684Arg)
2g.188999312G>TCA349839936COL3A1c.1951G>T (p.Gly651Ter)
c.2050G>T (p.Gly684Ter)
 gnomAD v4
2g.188999313G>ACA349839940COL3A1c.1952G>A (p.Gly651Glu)
c.2051G>A (p.Gly684Glu)
 ClinVar dbSNP
2g.188999313G>CCA349839944COL3A1c.1952G>C (p.Gly651Ala)
c.2051G>C (p.Gly684Ala)
 COSMIC COSMIC
2g.188999313G=CA1315400875COL3A1c.1952G= (p.Gly651=)
c.2051G= (p.Gly684=)
2g.188999313G>TCA004930COL3A1c.1952G>T (p.Gly651Val)
c.2051G>T (p.Gly684Val)
 ClinVar dbSNP gnomAD v4
2g.188999314A>CCA430310524COL3A1c.1953A>C (p.Gly651=)
c.2052A>C (p.Gly684=)
2g.188999314A>GCA430310523COL3A1c.1953A>G (p.Gly651=)
c.2052A>G (p.Gly684=)
 gnomAD v4
2g.188999314A>TCA430310522COL3A1c.1953A>T (p.Gly651=)
c.2052A>T (p.Gly684=)
2g.188999315C>ACA349839948COL3A1c.1954C>A (p.Pro652Thr)
c.2053C>A (p.Pro685Thr)
 gnomAD v4
2g.188999315C>GCA349839958COL3A1c.1954C>G (p.Pro652Ala)
c.2053C>G (p.Pro685Ala)
2g.188999315C>TCA349839962COL3A1c.1954C>T (p.Pro652Ser)
c.2053C>T (p.Pro685Ser)
 ClinVar gnomAD v4
2g.188999316C>ACA349839968COL3A1c.1955C>A (p.Pro652His)
c.2054C>A (p.Pro685His)
2g.188999316C>GCA349839971COL3A1c.1955C>G (p.Pro652Arg)
c.2054C>G (p.Pro685Arg)
2g.188999316C>TCA349839972COL3A1c.1955C>T (p.Pro652Leu)
c.2054C>T (p.Pro685Leu)
2g.188999317T>ACA430310525COL3A1c.1956T>A (p.Pro652=)
c.2055T>A (p.Pro685=)
2g.188999317T>CCA430310527COL3A1c.1956T>C (p.Pro652=)
c.2055T>C (p.Pro685=)
2g.188999317T>GCA430310526COL3A1c.1956T>G (p.Pro652=)
c.2055T>G (p.Pro685=)
2g.188999317_188999318delinsTCCA1315400876COL3A1c.1956_1957delinsTC (p.Pro652=)
c.2055_2056delinsTC (p.Pro685=)
2g.188999318C>ACA349839981COL3A1c.1957C>A (p.Pro653Thr)
c.2056C>A (p.Pro686Thr)
2g.188999318C=CA1315400877COL3A1c.1957C= (p.Pro653=)
c.2056C= (p.Pro686=)
2g.188999318C>GCA004938COL3A1c.1957C>G (p.Pro653Ala)
c.2056C>G (p.Pro686Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999318C>TCA349839977COL3A1c.1957C>T (p.Pro653Ser)
c.2056C>T (p.Pro686Ser)
2g.188999319delCA913189727COL3A1c.1958del (p.Pro653LeufsTer?)
c.2057del (p.Pro686LeufsTer?)
 ClinVar dbSNP
2g.188999319C>ACA349839986COL3A1c.1958C>A (p.Pro653His)
c.2057C>A (p.Pro686His)
 ClinVar gnomAD v4
2g.188999319C>GCA349839988COL3A1c.1958C>G (p.Pro653Arg)
c.2057C>G (p.Pro686Arg)
2g.188999319C>TCA349839992COL3A1c.1958C>T (p.Pro653Leu)
c.2057C>T (p.Pro686Leu)
 gnomAD v4
2g.188999320T>ACA430310528COL3A1c.1959T>A (p.Pro653=)
c.2058T>A (p.Pro686=)
2g.188999320T>CCA430310529COL3A1c.1959T>C (p.Pro653=)
c.2058T>C (p.Pro686=)
 gnomAD v4
2g.188999320T>GCA430310530COL3A1c.1959T>G (p.Pro653=)
c.2058T>G (p.Pro686=)
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)
 ClinVar 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)
 ClinVar gnomAD v4
2g.188999333G>CCA349840095COL3A1c.1972G>C (p.Ala658Pro)
c.2071G>C (p.Ala691Pro)
2g.188999333G=CA1315400886COL3A1c.1972G= (p.Ala658=)
c.2071G= (p.Ala691=)
2g.188999333G>TCA349840098COL3A1c.1972G>T (p.Ala658Ser)
c.2071G>T (p.Ala691Ser)
 dbSNP gnomAD v4
2g.188999334C>ACA349840103COL3A1c.1973C>A (p.Ala658Asp)
c.2072C>A (p.Ala691Asp)
 gnomAD v4
2g.188999334C=CA1315400887COL3A1c.1973C= (p.Ala658=)
c.2072C= (p.Ala691=)
2g.188999334C>GCA074972COL3A1c.1973C>G (p.Ala658Gly)
c.2072C>G (p.Ala691Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999334C>TCA349840108COL3A1c.1973C>T (p.Ala658Val)
c.2072C>T (p.Ala691Val)
 ClinVar dbSNP gnomAD v4
2g.188999335C>ACA430310541COL3A1c.1974C>A (p.Ala658=)
c.2073C>A (p.Ala691=)
 gnomAD v4
2g.188999335C>GCA430310542COL3A1c.1974C>G (p.Ala658=)
c.2073C>G (p.Ala691=)
2g.188999335C>TCA430310543COL3A1c.1974C>T (p.Ala658=)
c.2073C>T (p.Ala691=)
2g.188999336C>ACA349840117COL3A1c.1975C>A (p.Pro659Thr)
c.2074C>A (p.Pro692Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188999336C=CA1315400888COL3A1c.1975C= (p.Pro659=)
c.2074C= (p.Pro692=)
2g.188999336C>GCA349840111COL3A1c.1975C>G (p.Pro659Ala)
c.2074C>G (p.Pro692Ala)
2g.188999336C>TCA349840114COL3A1c.1975C>T (p.Pro659Ser)
c.2074C>T (p.Pro692Ser)
 gnomAD v4
2g.188999337C>ACA074975COL3A1c.1976C>A (p.Pro659Gln)
c.2075C>A (p.Pro692Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999337C=CA1315400889COL3A1c.1976C= (p.Pro659=)
c.2075C= (p.Pro692=)
2g.188999337C>GCA349840122COL3A1c.1976C>G (p.Pro659Arg)
c.2075C>G (p.Pro692Arg)
2g.188999337C>TCA349840125COL3A1c.1976C>T (p.Pro659Leu)
c.2075C>T (p.Pro692Leu)
 ClinVar
2g.188999338A=CA1315400890COL3A1c.1977A= (p.Pro659=)
c.2076A= (p.Pro692=)
2g.188999338A>CCA430310544COL3A1c.1977A>C (p.Pro659=)
c.2076A>C (p.Pro692=)
 dbSNP gnomAD v4
2g.188999338A>GCA430310545COL3A1c.1977A>G (p.Pro659=)
c.2076A>G (p.Pro692=)
 gnomAD v4 COSMIC COSMIC
2g.188999338A>TCA430310546COL3A1c.1977A>T (p.Pro659=)
c.2076A>T (p.Pro692=)
2g.188999339G>ACA349840128COL3A1c.1978G>A (p.Gly660Arg)
c.2077G>A (p.Gly693Arg)
 gnomAD v4
2g.188999339G>CCA349840130COL3A1c.1978G>C (p.Gly660Arg)
c.2077G>C (p.Gly693Arg)
2g.188999339G>TCA349840132COL3A1c.1978G>T (p.Gly660Ter)
c.2077G>T (p.Gly693Ter)
 gnomAD v4 COSMIC COSMIC
2g.188999340G>ACA349840137COL3A1c.1979G>A (p.Gly660Glu)
c.2078G>A (p.Gly693Glu)
 ClinVar COSMIC COSMIC
2g.188999340G>CCA004970COL3A1c.1979G>C (p.Gly660Ala)
c.2078G>C (p.Gly693Ala)
 ClinVar dbSNP
2g.188999340G=CA1315400891COL3A1c.1979G= (p.Gly660=)
c.2078G= (p.Gly693=)
2g.188999340G>TCA349840149COL3A1c.1979G>T (p.Gly660Val)
c.2078G>T (p.Gly693Val)
 ClinVar dbSNP gnomAD v4
2g.188999341A=CA1315400892COL3A1c.1980A= (p.Gly660=)
c.2079A= (p.Gly693=)
2g.188999341A>CCA430310547COL3A1c.1980A>C (p.Gly660=)
c.2079A>C (p.Gly693=)
2g.188999341A>GCA430310548COL3A1c.1980A>G (p.Gly660=)
c.2079A>G (p.Gly693=)
 dbSNP
2g.188999341A>TCA430310549COL3A1c.1980A>T (p.Gly660=)
c.2079A>T (p.Gly693=)
 ClinVar dbSNP gnomAD v2
2g.188999342C>ACA349840156COL3A1c.1981C>A (p.Leu661Ile)
c.2080C>A (p.Leu694Ile)
 gnomAD v4
2g.188999342C>GCA349840158COL3A1c.1981C>G (p.Leu661Val)
c.2080C>G (p.Leu694Val)
2g.188999342C>TCA349840160COL3A1c.1981C>T (p.Leu661Phe)
c.2080C>T (p.Leu694Phe)
2g.188999343T>ACA349840171COL3A1c.1982T>A (p.Leu661His)
c.2081T>A (p.Leu694His)
2g.188999343T>CCA349840167COL3A1c.1982T>C (p.Leu661Pro)
c.2081T>C (p.Leu694Pro)
2g.188999343T>GCA349840164COL3A1c.1982T>G (p.Leu661Arg)
c.2081T>G (p.Leu694Arg)
2g.188999344T>ACA430310550COL3A1c.1983T>A (p.Leu661=)
c.2082T>A (p.Leu694=)
2g.188999344T>CCA430310551COL3A1c.1983T>C (p.Leu661=)
c.2082T>C (p.Leu694=)
2g.188999344T>GCA430310552COL3A1c.1983T>G (p.Leu661=)
c.2082T>G (p.Leu694=)
2g.188999345A>CCA430310553COL3A1c.1984A>C (p.Arg662=)
c.2083A>C (p.Arg695=)
2g.188999345A>GCA349840178COL3A1c.1984A>G (p.Arg662Gly)
c.2083A>G (p.Arg695Gly)
2g.188999345A>TCA349840175COL3A1c.1984A>T (p.Arg662Ter)
c.2083A>T (p.Arg695Ter)
 gnomAD v4
2g.188999346G>ACA349840185COL3A1c.1985G>A (p.Arg662Lys)
c.2084G>A (p.Arg695Lys)
 ClinVar
2g.188999346G>CCA349840183COL3A1c.1985G>C (p.Arg662Thr)
c.2084G>C (p.Arg695Thr)
2g.188999346G>TCA349840189COL3A1c.1985G>T (p.Arg662Ile)
c.2084G>T (p.Arg695Ile)
2g.188999347A=CA1315400893COL3A1c.1986A= (p.Arg662=)
c.2085A= (p.Arg695=)
2g.188999347A>CCA349840192COL3A1c.1986A>C (p.Arg662Ser)
c.2085A>C (p.Arg695Ser)
2g.188999347A>GCA62554460COL3A1c.1986A>G (p.Arg662=)
c.2085A>G (p.Arg695=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188999347A>TCA349840195COL3A1c.1986A>T (p.Arg662Ser)
c.2085A>T (p.Arg695Ser)
2g.188999348G>ACA349840200COL3A1c.1987G>A (p.Gly663Ser)
c.2086G>A (p.Gly696Ser)
2g.188999348G>CCA349840204COL3A1c.1987G>C (p.Gly663Arg)
c.2086G>C (p.Gly696Arg)
2g.188999348G>TCA349840209COL3A1c.1987G>T (p.Gly663Cys)
c.2086G>T (p.Gly696Cys)
 gnomAD v4
2g.188999349G>ACA004979COL3A1c.1988G>A (p.Gly663Asp)
c.2087G>A (p.Gly696Asp)
 ClinVar dbSNP
2g.188999349G>CCA349840214COL3A1c.1988G>C (p.Gly663Ala)
c.2087G>C (p.Gly696Ala)
2g.188999349G=CA1315400894COL3A1c.1988G= (p.Gly663=)
c.2087G= (p.Gly696=)
2g.188999349G>TCA349840218COL3A1c.1988G>T (p.Gly663Val)
c.2087G>T (p.Gly696Val)
2g.188999350T>ACA430310554COL3A1c.1989T>A (p.Gly663=)
c.2088T>A (p.Gly696=)
2g.188999350T>CCA430310555COL3A1c.1989T>C (p.Gly663=)
c.2088T>C (p.Gly696=)
 gnomAD v4
2g.188999350T>GCA074978COL3A1c.1989T>G (p.Gly663=)
c.2088T>G (p.Gly696=)
 dbSNP ExAC gnomAD v4
2g.188999350T=CA1315400895COL3A1c.1989T= (p.Gly663=)
c.2088T= (p.Gly696=)
2g.188999351G>ACA62554466COL3A1c.1990G>A (p.Gly664Arg)
c.2089G>A (p.Gly697Arg)
 dbSNP
2g.188999351G>CCA349840227COL3A1c.1990G>C (p.Gly664Arg)
c.2089G>C (p.Gly697Arg)
2g.188999351G=CA1315400896COL3A1c.1990G= (p.Gly664=)
c.2089G= (p.Gly697=)
2g.188999351G>TCA349840230COL3A1c.1990G>T (p.Gly664Ter)
c.2089G>T (p.Gly697Ter)
2g.188999352G>ACA349840236COL3A1c.1991G>A (p.Gly664Glu)
c.2090G>A (p.Gly697Glu)
2g.188999352G>CCA349840238COL3A1c.1991G>C (p.Gly664Ala)
c.2090G>C (p.Gly697Ala)
2g.188999352G>TCA349840242COL3A1c.1991G>T (p.Gly664Val)
c.2090G>T (p.Gly697Val)
2g.188999353A=CA1315400897COL3A1c.1992A= (p.Gly664=)
c.2091A= (p.Gly697=)
2g.188999353A>CCA430310557COL3A1c.1992A>C (p.Gly664=)
c.2091A>C (p.Gly697=)
2g.188999353A>GCA074981COL3A1c.1992A>G (p.Gly664=)
c.2091A>G (p.Gly697=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999353A>TCA430310556COL3A1c.1992A>T (p.Gly664=)
c.2091A>T (p.Gly697=)
2g.188999354G>ACA004987COL3A1c.1993G>A (p.Ala665Thr)
c.2092G>A (p.Ala698Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999354G>CCA349840253COL3A1c.1993G>C (p.Ala665Pro)
c.2092G>C (p.Ala698Pro)
 dbSNP
2g.188999354G=CA1315400898COL3A1c.1993G= (p.Ala665=)
c.2092G= (p.Ala698=)
2g.188999354G>TCA349840257COL3A1c.1993G>T (p.Ala665Ser)
c.2092G>T (p.Ala698Ser)
 dbSNP
2g.188999354_188999359delinsACTGGCA2695197093COL3A1c.1993_1998delinsACTGG (p.Ala665ThrfsTer?)
c.2092_2097delinsACTGG (p.Ala698ThrfsTer?)
 ClinVar
2g.188999354_188999360delinsACTGTTCA2697551450COL3A1c.1993_1999delinsACTGTT (p.Ala665ThrfsTer?)
c.2092_2098delinsACTGTT (p.Ala698ThrfsTer?)
 ClinVar
2g.188999355C>ACA349840262COL3A1c.1994C>A (p.Ala665Asp)
c.2093C>A (p.Ala698Asp)
 dbSNP gnomAD v2
2g.188999355C=CA1315400899COL3A1c.1994C= (p.Ala665=)
c.2093C= (p.Ala698=)
2g.188999355C>GCA349840264COL3A1c.1994C>G (p.Ala665Gly)
c.2093C>G (p.Ala698Gly)
 dbSNP
2g.188999355C>TCA349840268COL3A1c.1994C>T (p.Ala665Val)
c.2093C>T (p.Ala698Val)
 dbSNP
2g.188999356T>ACA430310560COL3A1c.1995T>A (p.Ala665=)
c.2094T>A (p.Ala698=)
2g.188999356T>CCA430310558COL3A1c.1995T>C (p.Ala665=)
c.2094T>C (p.Ala698=)
2g.188999356T>GCA430310559COL3A1c.1995T>G (p.Ala665=)
c.2094T>G (p.Ala698=)
2g.188999357G>ACA349840273COL3A1c.1996G>A (p.Gly666Ser)
c.2095G>A (p.Gly699Ser)
2g.188999357G>CCA004993COL3A1c.1996G>C (p.Gly666Arg)
c.2095G>C (p.Gly699Arg)
 ClinVar dbSNP
2g.188999357G=CA1315400900COL3A1c.1996G= (p.Gly666=)
c.2095G= (p.Gly699=)
2g.188999357G>TCA349840277COL3A1c.1996G>T (p.Gly666Cys)
c.2095G>T (p.Gly699Cys)
 ClinVar
2g.188999358G>ACA005001COL3A1c.1997G>A (p.Gly666Asp)
c.2096G>A (p.Gly699Asp)
 ClinVar dbSNP
2g.188999358G>CCA349840284COL3A1c.1997G>C (p.Gly666Ala)
c.2096G>C (p.Gly699Ala)
2g.188999358G=CA1315400901COL3A1c.1997G= (p.Gly666=)
c.2096G= (p.Gly699=)
2g.188999358G>TCA349840287COL3A1c.1997G>T (p.Gly666Val)
c.2096G>T (p.Gly699Val)
 ClinVar dbSNP
2g.188999359delCA2586965481COL3A1c.1998del (p.Pro668LeufsTer?)
c.2097del (p.Pro701LeufsTer?)
2g.188999359T>ACA430310561COL3A1c.1998T>A (p.Gly666=)
c.2097T>A (p.Gly699=)
2g.188999359T>CCA430310563COL3A1c.1998T>C (p.Gly666=)
c.2097T>C (p.Gly699=)
 dbSNP gnomAD v2 gnomAD v4
2g.188999359T>GCA430310562COL3A1c.1998T>G (p.Gly666=)
c.2097T>G (p.Gly699=)
2g.188999359T=CA1315400902COL3A1c.1998T= (p.Gly666=)
c.2097T= (p.Gly699=)
2g.188999359_188999360delinsTCCA1315400903COL3A1c.1998_1999delinsTC (p.Gly666=)
c.2097_2098delinsTC (p.Gly699=)
2g.188999360C>ACA349840296COL3A1c.1999C>A (p.Pro667Thr)
c.2098C>A (p.Pro700Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188999360C=CA1315400904COL3A1c.1999C= (p.Pro667=)
c.2098C= (p.Pro700=)
2g.188999360C>GCA349840293COL3A1c.1999C>G (p.Pro667Ala)
c.2098C>G (p.Pro700Ala)
2g.188999360C>TCA349840291COL3A1c.1999C>T (p.Pro667Ser)
c.2098C>T (p.Pro700Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188999364delCA913189728COL3A1c.2003del (p.Pro668LeufsTer?)
c.2102del (p.Pro701LeufsTer?)
 ClinVar dbSNP
2g.188999361C>ACA349840299COL3A1c.2000C>A (p.Pro667His)
c.2099C>A (p.Pro700His)
 dbSNP
2g.188999361C=CA1315400905COL3A1c.2000C= (p.Pro667=)
c.2099C= (p.Pro700=)
2g.188999361C>GCA349840304COL3A1c.2000C>G (p.Pro667Arg)
c.2099C>G (p.Pro700Arg)
2g.188999361C>TCA349840307COL3A1c.2000C>T (p.Pro667Leu)
c.2099C>T (p.Pro700Leu)
 dbSNP gnomAD v2
2g.188999362C>ACA430310564COL3A1c.2001C>A (p.Pro667=)
c.2100C>A (p.Pro700=)
2g.188999362C>GCA430310565COL3A1c.2001C>G (p.Pro667=)
c.2100C>G (p.Pro700=)
2g.188999362C>TCA430310566COL3A1c.2001C>T (p.Pro667=)
c.2100C>T (p.Pro700=)
2g.188999363C>ACA349840310COL3A1c.2002C>A (p.Pro668Thr)
c.2101C>A (p.Pro701Thr)
2g.188999363C=CA1315400906COL3A1c.2002C= (p.Pro668=)
c.2101C= (p.Pro701=)
2g.188999363C>GCA62554476COL3A1c.2002C>G (p.Pro668Ala)
c.2101C>G (p.Pro701Ala)
 ClinVar dbSNP gnomAD v4
2g.188999363C>TCA349840315COL3A1c.2002C>T (p.Pro668Ser)
c.2101C>T (p.Pro701Ser)
2g.188999364C>ACA349840319COL3A1c.2003C>A (p.Pro668His)
c.2102C>A (p.Pro701His)
2g.188999364C>GCA349840322COL3A1c.2003C>G (p.Pro668Arg)
c.2102C>G (p.Pro701Arg)
 gnomAD v4
2g.188999364C>TCA349840326COL3A1c.2003C>T (p.Pro668Leu)
c.2102C>T (p.Pro701Leu)
2g.188999365T>ACA430310567COL3A1c.2004T>A (p.Pro668=)
c.2103T>A (p.Pro701=)
2g.188999365T>CCA430310568COL3A1c.2004T>C (p.Pro668=)
c.2103T>C (p.Pro701=)
 ClinVar dbSNP gnomAD v4
2g.188999365T>GCA430310569COL3A1c.2004T>G (p.Pro668=)
c.2103T>G (p.Pro701=)
2g.188999365T=CA1315400907COL3A1c.2004T= (p.Pro668=)
c.2103T= (p.Pro701=)
2g.188999366G>ACA349840333COL3A1c.2005G>A (p.Gly669Ser)
c.2104G>A (p.Gly702Ser)
 ClinVar
2g.188999366G>CCA349840341COL3A1c.2005G>C (p.Gly669Arg)
c.2104G>C (p.Gly702Arg)
 ClinVar dbSNP
2g.188999366G>TCA349840347COL3A1c.2005G>T (p.Gly669Cys)
c.2104G>T (p.Gly702Cys)
2g.188999367G>ACA005009COL3A1c.2006G>A (p.Gly669Asp)
c.2105G>A (p.Gly702Asp)
 ClinVar dbSNP
2g.188999367G>CCA349840351COL3A1c.2006G>C (p.Gly669Ala)
c.2105G>C (p.Gly702Ala)
 ClinVar dbSNP
2g.188999367G=CA1315400908COL3A1c.2006G= (p.Gly669=)
c.2105G= (p.Gly702=)
2g.188999367G>TCA005016COL3A1c.2006G>T (p.Gly669Val)
c.2105G>T (p.Gly702Val)
 ClinVar dbSNP
2g.188999368T>ACA430310570COL3A1c.2007T>A (p.Gly669=)
c.2106T>A (p.Gly702=)
2g.188999368T>CCA430310571COL3A1c.2007T>C (p.Gly669=)
c.2106T>C (p.Gly702=)
2g.188999368T>GCA62554481COL3A1c.2007T>G (p.Gly669=)
c.2106T>G (p.Gly702=)
 dbSNP
2g.188999368T=CA1315400909COL3A1c.2007T= (p.Gly669=)
c.2106T= (p.Gly702=)
2g.188999369C>ACA349840354COL3A1c.2008C>A (p.Pro670Thr)
c.2107C>A (p.Pro703Thr)
 gnomAD v4
2g.188999369C=CA1315400910COL3A1c.2008C= (p.Pro670=)
c.2107C= (p.Pro703=)
2g.188999369C>GCA62554482COL3A1c.2008C>G (p.Pro670Ala)
c.2107C>G (p.Pro703Ala)
 ClinVar dbSNP
2g.188999369C>TCA074985COL3A1c.2008C>T (p.Pro670Ser)
c.2107C>T (p.Pro703Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999370C>ACA349840362COL3A1c.2009C>A (p.Pro670His)
c.2108C>A (p.Pro703His)
2g.188999370C=CA1315400911COL3A1c.2009C= (p.Pro670=)
c.2108C= (p.Pro703=)
2g.188999370C>GCA349840364COL3A1c.2009C>G (p.Pro670Arg)
c.2108C>G (p.Pro703Arg)
2g.188999370C>TCA349840366COL3A1c.2009C>T (p.Pro670Leu)
c.2108C>T (p.Pro703Leu)
 ClinVar dbSNP COSMIC COSMIC
2g.188999371C>ACA430310572COL3A1c.2010C>A (p.Pro670=)
c.2109C>A (p.Pro703=)
 ClinVar dbSNP gnomAD v4
2g.188999371C=CA1315400912COL3A1c.2010C= (p.Pro670=)
c.2109C= (p.Pro703=)
2g.188999371C>GCA430310573COL3A1c.2010C>G (p.Pro670=)
c.2109C>G (p.Pro703=)
2g.188999371C>TCA074988COL3A1c.2010C>T (p.Pro670=)
c.2109C>T (p.Pro703=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999372G>ACA279199COL3A1c.2011G>A (p.Glu671Lys)
c.2110G>A (p.Glu704Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188999372G>CCA349840369COL3A1c.2011G>C (p.Glu671Gln)
c.2110G>C (p.Glu704Gln)
2g.188999372G=CA1315400913COL3A1c.2011G= (p.Glu671=)
c.2110G= (p.Glu704=)
2g.188999372G>TCA349840370COL3A1c.2011G>T (p.Glu671Ter)
c.2110G>T (p.Glu704Ter)
2g.188999373A>CCA349840371COL3A1c.2012A>C (p.Glu671Ala)
c.2111A>C (p.Glu704Ala)
2g.188999373A>GCA349840373COL3A1c.2012A>G (p.Glu671Gly)
c.2111A>G (p.Glu704Gly)
2g.188999373A>TCA349840377COL3A1c.2012A>T (p.Glu671Val)
c.2111A>T (p.Glu704Val)
2g.188999374A=CA1315400914COL3A1c.2013A= (p.Glu671=)
c.2112A= (p.Glu704=)
2g.188999374A>CCA349840382COL3A1c.2013A>C (p.Glu671Asp)
c.2112A>C (p.Glu704Asp)
 dbSNP
2g.188999374A>GCA430310574COL3A1c.2013A>G (p.Glu671=)
c.2112A>G (p.Glu704=)
2g.188999374A>TCA349840386COL3A1c.2013A>T (p.Glu671Asp)
c.2112A>T (p.Glu704Asp)
2g.188999375G>ACA005025COL3A1c.2014G>A (p.Gly672Arg)
c.2113G>A (p.Gly705Arg)
 ClinVar dbSNP
2g.188999375G>CCA349840396COL3A1c.2014G>C (p.Gly672Arg)
c.2113G>C (p.Gly705Arg)
2g.188999375G=CA1315400915COL3A1c.2014G= (p.Gly672=)
c.2113G= (p.Gly705=)
2g.188999375G>TCA349840393COL3A1c.2014G>T (p.Gly672Ter)
c.2113G>T (p.Gly705Ter)
 gnomAD v4
2g.188999375_188999385delinsGGAGGAAAGGTCA1315400916COL3A1c.2014_2022+2delinsGGAGGAAAGGT
c.2113_2121+2delinsGGAGGAAAGGT
2g.188999376G>ACA005033COL3A1c.2015G>A (p.Gly672Glu)
c.2114G>A (p.Gly705Glu)
 ClinVar dbSNP
2g.188999376G>CCA349840403COL3A1c.2015G>C (p.Gly672Ala)
c.2114G>C (p.Gly705Ala)
2g.188999376G=CA1315400917COL3A1c.2015G= (p.Gly672=)
c.2114G= (p.Gly705=)
2g.188999376G>TCA349840406COL3A1c.2015G>T (p.Gly672Val)
c.2114G>T (p.Gly705Val)
2g.188999376_188999385delCA1139657564COL3A1c.2015_2022+2del
c.2114_2121+2del
 ClinVar dbSNP
2g.188999376_188999387delinsCTCA2586965483COL3A1c.2015_2022+4delinsCT
c.2114_2121+4delinsCT
2g.188999377A=CA1315400918COL3A1c.2016A= (p.Gly672=)
c.2115A= (p.Gly705=)
2g.188999377A>CCA430310575COL3A1c.2016A>C (p.Gly672=)
c.2115A>C (p.Gly705=)
 dbSNP gnomAD v2 gnomAD v4
2g.188999377A>GCA430310576COL3A1c.2016A>G (p.Gly672=)
c.2115A>G (p.Gly705=)
2g.188999377A>TCA430310577COL3A1c.2016A>T (p.Gly672=)
c.2115A>T (p.Gly705=)
 ClinVar gnomAD v4
2g.188999378G>ACA349840414COL3A1c.2017G>A (p.Gly673Arg)
c.2116G>A (p.Gly706Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.188999378G>CCA349840417COL3A1c.2017G>C (p.Gly673Arg)
c.2116G>C (p.Gly706Arg)
2g.188999378G=CA1315400919COL3A1c.2017G= (p.Gly673=)
c.2116G= (p.Gly706=)
2g.188999378G>TCA349840420COL3A1c.2017G>T (p.Gly673Ter)
c.2116G>T (p.Gly706Ter)
2g.188999379G>ACA349840423COL3A1c.2018G>A (p.Gly673Glu)
c.2117G>A (p.Gly706Glu)
 ClinVar dbSNP gnomAD v4
2g.188999379G>CCA349840424COL3A1c.2018G>C (p.Gly673Ala)
c.2117G>C (p.Gly706Ala)
2g.188999379G=CA1315400920COL3A1c.2018G= (p.Gly673=)
c.2117G= (p.Gly706=)
2g.188999379G>TCA349840425COL3A1c.2018G>T (p.Gly673Val)
c.2117G>T (p.Gly706Val)
2g.188999380A>CCA430310578COL3A1c.2019A>C (p.Gly673=)
c.2118A>C (p.Gly706=)
2g.188999380A>GCA430310579COL3A1c.2019A>G (p.Gly673=)
c.2118A>G (p.Gly706=)
2g.188999380A>TCA430310580COL3A1c.2019A>T (p.Gly673=)
c.2118A>T (p.Gly706=)
2g.188999381_188999394delCA2499215534COL3A1c.2020_2022+11del
c.2119_2121+11del
 ClinVar dbSNP
2g.188999381A>CCA349840427COL3A1c.2020A>C (p.Lys674Gln)
c.2119A>C (p.Lys707Gln)
2g.188999381A>GCA349840431COL3A1c.2020A>G (p.Lys674Glu)
c.2119A>G (p.Lys707Glu)
2g.188999381A>TCA349840433COL3A1c.2020A>T (p.Lys674Ter)
c.2119A>T (p.Lys707Ter)
2g.188999382A>CCA349840440COL3A1c.2021A>C (p.Lys674Thr)
c.2120A>C (p.Lys707Thr)
 gnomAD v4
2g.188999382A>GCA349840435COL3A1c.2021A>G (p.Lys674Arg)
c.2120A>G (p.Lys707Arg)
2g.188999382A>TCA349840437COL3A1c.2021A>T (p.Lys674Met)
c.2120A>T (p.Lys707Met)
2g.188999385_188999470delCA2753572428COL3A1c.2022+2_2023del
c.2121+2_2122del
2g.188999383G>ACA430310581COL3A1c.2022G>A (p.Lys674=)
c.2121G>A (p.Lys707=)
2g.188999383G>CCA349840443COL3A1c.2022G>C (p.Lys674Asn)
c.2121G>C (p.Lys707Asn)
2g.188999383G>TCA349840446COL3A1c.2022G>T (p.Lys674Asn)
c.2121G>T (p.Lys707Asn)
2g.188999384G>ACA349840450COL3A1c.2022+1G>A (n.2022+1G>A)
c.2121+1G>A (n.2121+1G>A)
2g.188999384G>CCA005049COL3A1c.2022+1G>C (n.2022+1G>C)
c.2121+1G>C (n.2121+1G>C)
 ClinVar dbSNP
2g.188999384G=CA1315400921COL3A1c.2022+1G= (n.2022+1G=)
c.2121+1G= (n.2121+1G=)
2g.188999384G>TCA349840454COL3A1c.2022+1G>T (n.2022+1G>T)
c.2121+1G>T (n.2121+1G>T)
2g.188999385T>ACA349840455COL3A1c.2022+2T>A (n.2022+2T>A)
c.2121+2T>A (n.2121+2T>A)
2g.188999385T>CCA349840456COL3A1c.2022+2T>C (n.2022+2T>C)
c.2121+2T>C (n.2121+2T>C)
2g.188999385T>GCA349840459COL3A1c.2022+2T>G (n.2022+2T>G)
c.2121+2T>G (n.2121+2T>G)
2g.188999385T=CA1315400922COL3A1c.2022+2T= (n.2022+2T=)
c.2121+2T= (n.2121+2T=)
2g.188999387dupCA1040409808COL3A1c.2022+4dup (n.2022+4dup)
c.2121+4dup (n.2121+4dup)
 dbSNP gnomAD v3 gnomAD v4
2g.188999387delCA2499215535COL3A1c.2022+4del (n.2022+4del)
c.2121+4del (n.2121+4del)
 ClinVar dbSNP gnomAD v4
2g.188999388C=CA1315400923COL3A1c.2022+5C= (n.2022+5C=)
c.2121+5C= (n.2121+5C=)
2g.188999388C>GCA075010COL3A1c.2022+5C>G (n.2022+5C>G)
c.2121+5C>G (n.2121+5C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999389T>GCA2662309032COL3A1c.2022+6T>G (n.2022+6T>G)
c.2121+6T>G (n.2121+6T>G)
 gnomAD v4
2g.188999390C>TCA2662309033COL3A1c.2022+7C>T (n.2022+7C>T)
c.2121+7C>T (n.2121+7C>T)
 gnomAD v4
2g.188999392A>GCA2662309034COL3A1c.2022+9A>G (n.2022+9A>G)
c.2121+9A>G (n.2121+9A>G)
 gnomAD v4
2g.188999393C>ACA2662309035COL3A1c.2022+10C>A (n.2022+10C>A)
c.2121+10C>A (n.2121+10C>A)
 gnomAD v4
2g.188999393C=CA1315400924COL3A1c.2022+10C= (n.2022+10C=)
c.2121+10C= (n.2121+10C=)
2g.188999393C>TCA074990COL3A1c.2022+10C>T (n.2022+10C>T)
c.2121+10C>T (n.2121+10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999394A=CA1315400925COL3A1c.2022+11A= (n.2022+11A=)
c.2121+11A= (n.2121+11A=)
2g.188999394A>GCA1315400926COL3A1c.2022+11A>G (n.2022+11A>G)
c.2121+11A>G (n.2121+11A>G)
 dbSNP gnomAD v4
2g.188999395G>ACA1315400928COL3A1c.2022+12G>A (n.2022+12G>A)
c.2121+12G>A (n.2121+12G>A)
 dbSNP
2g.188999395G=CA1315400927COL3A1c.2022+12G= (n.2022+12G=)
c.2121+12G= (n.2121+12G=)
2g.188999396C>ACA2662309036COL3A1c.2022+13C>A (n.2022+13C>A)
c.2121+13C>A (n.2121+13C>A)
 gnomAD v4
2g.188999396C=CA1315400929COL3A1c.2022+13C= (n.2022+13C=)
c.2121+13C= (n.2121+13C=)
2g.188999396C>GCA1315400930COL3A1c.2022+13C>G (n.2022+13C>G)
c.2121+13C>G (n.2121+13C>G)
 dbSNP
2g.188999396C>TCA1315400931COL3A1c.2022+13C>T (n.2022+13C>T)
c.2121+13C>T (n.2121+13C>T)
 ClinVar dbSNP gnomAD v4
2g.188999400C>ACA430310582COL3A1c.2022+17C>A (n.2022+17C>A)
c.2121+17C>A (n.2121+17C>A)
 gnomAD v4
2g.188999401C>ACA005041COL3A1c.2022+18C>A (n.2022+18C>A)
c.2121+18C>A (n.2121+18C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999401C=CA1315400932COL3A1c.2022+18C= (n.2022+18C=)
c.2121+18C= (n.2121+18C=)
2g.188999402A=CA1315400933COL3A1c.2022+19A= (n.2022+19A=)
c.2121+19A= (n.2121+19A=)
2g.188999402A>GCA074995COL3A1c.2022+19A>G (n.2022+19A>G)
c.2121+19A>G (n.2121+19A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched