Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188996436_189001956delCA916081383COL3A1c.1602_2293-342del
c.1701_2392-342del
 ClinVar
2g.188999272A>GCA2662309023COL3A1c.1924-13A>G (n.1924-13A>G)
c.2023-13A>G (n.2023-13A>G)
 gnomAD v4
2g.188999273T>ACA538464140COL3A1c.1924-12T>A (n.1924-12T>A)
c.2023-12T>A (n.2023-12T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.188999273T>CCA1139657563COL3A1c.1924-12T>C (n.1924-12T>C)
c.2023-12T>C (n.2023-12T>C)
 ClinVar dbSNP
2g.188999273T=CA1315400858COL3A1c.1924-12T= (n.1924-12T=)
c.2023-12T= (n.2023-12T=)
2g.188999277delCA2662309024COL3A1c.1924-8del (n.1924-8del)
c.2023-8del (n.2023-8del)
 gnomAD v4
2g.188999275T>ACA2577185634COL3A1c.1924-10T>A (n.1924-10T>A)
c.2023-10T>A (n.2023-10T>A)
 gnomAD v4
2g.188999275T>CCA2662309025COL3A1c.1924-10T>C (n.1924-10T>C)
c.2023-10T>C (n.2023-10T>C)
 gnomAD v4
2g.188999276T>CCA2662309026COL3A1c.1924-9T>C (n.1924-9T>C)
c.2023-9T>C (n.2023-9T>C)
 gnomAD v4
2g.188999277T>CCA1315400860COL3A1c.1924-8T>C (n.1924-8T>C)
c.2023-8T>C (n.2023-8T>C)
 dbSNP gnomAD v4
2g.188999277T=CA1315400859COL3A1c.1924-8T= (n.1924-8T=)
c.2023-8T= (n.2023-8T=)
2g.188999278G>ACA2662309027COL3A1c.1924-7G>A (n.1924-7G>A)
c.2023-7G>A (n.2023-7G>A)
 gnomAD v4
2g.188999278G>CCA2753572427COL3A1c.1924-7G>C (n.1924-7G>C)
c.2023-7G>C (n.2023-7G>C)
2g.188999278G=CA1315400861COL3A1c.1924-7G= (n.1924-7G=)
c.2023-7G= (n.2023-7G=)
2g.188999278G>TCA538464141COL3A1c.1924-7G>T (n.1924-7G>T)
c.2023-7G>T (n.2023-7G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.188999280C>ACA2662309028COL3A1c.1924-5C>A (n.1924-5C>A)
c.2023-5C>A (n.2023-5C>A)
 gnomAD v4
2g.188999281A=CA1315400862COL3A1c.1924-4A= (n.1924-4A=)
c.2023-4A= (n.2023-4A=)
2g.188999281A>GCA2662309029COL3A1c.1924-4A>G (n.1924-4A>G)
c.2023-4A>G (n.2023-4A>G)
 ClinVar gnomAD v4
2g.188999281A>TCA074947COL3A1c.1924-4A>T (n.1924-4A>T)
c.2023-4A>T (n.2023-4A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999282C>ACA2662309030COL3A1c.1924-3C>A (n.1924-3C>A)
c.2023-3C>A (n.2023-3C>A)
 gnomAD v4
2g.188999282C=CA1315400863COL3A1c.1924-3C= (n.1924-3C=)
c.2023-3C= (n.2023-3C=)
2g.188999282C>GCA2662309031COL3A1c.1924-3C>G (n.1924-3C>G)
c.2023-3C>G (n.2023-3C>G)
 gnomAD v4
2g.188999282C>TCA538464142COL3A1c.1924-3C>T (n.1924-3C>T)
c.2023-3C>T (n.2023-3C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188999283A>CCA349839698COL3A1c.1924-2A>C (n.1924-2A>C)
c.2023-2A>C (n.2023-2A>C)
2g.188999283A>GCA349839701COL3A1c.1924-2A>G (n.1924-2A>G)
c.2023-2A>G (n.2023-2A>G)
2g.188999283A>TCA349839703COL3A1c.1924-2A>T (n.1924-2A>T)
c.2023-2A>T (n.2023-2A>T)
2g.188999284G>ACA004899COL3A1c.1924-1G>A (n.1924-1G>A)
c.2023-1G>A (n.2023-1G>A)
 ClinVar dbSNP gnomAD v4
2g.188999284G>CCA349839715COL3A1c.1924-1G>C (n.1924-1G>C)
c.2023-1G>C (n.2023-1G>C)
2g.188999284G=CA1315400864COL3A1c.1924-1G= (n.1924-1G=)
c.2023-1G= (n.2023-1G=)
2g.188999284G>TCA349839708COL3A1c.1924-1G>T (n.1924-1G>T)
c.2023-1G>T (n.2023-1G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188999285G>ACA349839728COL3A1c.1924G>A (p.Gly642Ser)
c.2023G>A (p.Gly675Ser)
 ClinVar dbSNP gnomAD v4
2g.188999285G>CCA349839734COL3A1c.1924G>C (p.Gly642Arg)
c.2023G>C (p.Gly675Arg)
2g.188999285G>TCA349839732COL3A1c.1924G>T (p.Gly642Cys)
c.2023G>T (p.Gly675Cys)
 gnomAD v4
2g.188999286G>ACA349839737COL3A1c.1925G>A (p.Gly642Asp)
c.2024G>A (p.Gly675Asp)
 dbSNP
2g.188999286G>CCA349839741COL3A1c.1925G>C (p.Gly642Ala)
c.2024G>C (p.Gly675Ala)
2g.188999286G=CA1315400865COL3A1c.1925G= (p.Gly642=)
c.2024G= (p.Gly675=)
2g.188999286G>TCA004907COL3A1c.1925G>T (p.Gly642Val)
c.2024G>T (p.Gly675Val)
 ClinVar dbSNP
2g.188999287T>ACA430310501COL3A1c.1926T>A (p.Gly642=)
c.2025T>A (p.Gly675=)
2g.188999287T>CCA430310502COL3A1c.1926T>C (p.Gly642=)
c.2025T>C (p.Gly675=)
 gnomAD v4
2g.188999287T>GCA430310503COL3A1c.1926T>G (p.Gly642=)
c.2025T>G (p.Gly675=)
2g.188999288G>ACA349839746COL3A1c.1927G>A (p.Asp643Asn)
c.2026G>A (p.Asp676Asn)
 gnomAD v4
2g.188999288G>CCA349839758COL3A1c.1927G>C (p.Asp643His)
c.2026G>C (p.Asp676His)
2g.188999288G>TCA349839769COL3A1c.1927G>T (p.Asp643Tyr)
c.2026G>T (p.Asp676Tyr)
 gnomAD v4
2g.188999289A>CCA349839771COL3A1c.1928A>C (p.Asp643Ala)
c.2027A>C (p.Asp676Ala)
2g.188999289A>GCA349839773COL3A1c.1928A>G (p.Asp643Gly)
c.2027A>G (p.Asp676Gly)
2g.188999289A>TCA349839775COL3A1c.1928A>T (p.Asp643Val)
c.2027A>T (p.Asp676Val)
 gnomAD v4
2g.188999290T>ACA349839777COL3A1c.1929T>A (p.Asp643Glu)
c.2028T>A (p.Asp676Glu)
2g.188999290T>CCA430310504COL3A1c.1929T>C (p.Asp643=)
c.2028T>C (p.Asp676=)
2g.188999290T>GCA349839778COL3A1c.1929T>G (p.Asp643Glu)
c.2028T>G (p.Asp676Glu)
2g.188999291G>ACA349839783COL3A1c.1930G>A (p.Ala644Thr)
c.2029G>A (p.Ala677Thr)
2g.188999291G>CCA349839780COL3A1c.1930G>C (p.Ala644Pro)
c.2029G>C (p.Ala677Pro)
2g.188999291G>TCA349839779COL3A1c.1930G>T (p.Ala644Ser)
c.2029G>T (p.Ala677Ser)
 gnomAD v4
2g.188999292C>ACA349839786COL3A1c.1931C>A (p.Ala644Asp)
c.2030C>A (p.Ala677Asp)
 gnomAD v4
2g.188999292C>GCA349839787COL3A1c.1931C>G (p.Ala644Gly)
c.2030C>G (p.Ala677Gly)
 ClinVar dbSNP
2g.188999292C>TCA349839788COL3A1c.1931C>T (p.Ala644Val)
c.2030C>T (p.Ala677Val)
 gnomAD v4
2g.188999293T>ACA430310505COL3A1c.1932T>A (p.Ala644=)
c.2031T>A (p.Ala677=)
2g.188999293T>CCA430310506COL3A1c.1932T>C (p.Ala644=)
c.2031T>C (p.Ala677=)
2g.188999293T>GCA430310507COL3A1c.1932T>G (p.Ala644=)
c.2031T>G (p.Ala677=)
2g.188999294G>ACA349839790COL3A1c.1933G>A (p.Gly645Ser)
c.2032G>A (p.Gly678Ser)
 gnomAD v4
2g.188999294G>CCA349839791COL3A1c.1933G>C (p.Gly645Arg)
c.2032G>C (p.Gly678Arg)
2g.188999294G>TCA349839794COL3A1c.1933G>T (p.Gly645Cys)
c.2032G>T (p.Gly678Cys)
 gnomAD v4
2g.188999295G>ACA349839795COL3A1c.1934G>A (p.Gly645Asp)
c.2033G>A (p.Gly678Asp)
2g.188999295G>CCA349839796COL3A1c.1934G>C (p.Gly645Ala)
c.2033G>C (p.Gly678Ala)
2g.188999295G>TCA349839797COL3A1c.1934G>T (p.Gly645Val)
c.2033G>T (p.Gly678Val)
 gnomAD v4 COSMIC COSMIC
2g.188999296T>ACA430310508COL3A1c.1935T>A (p.Gly645=)
c.2034T>A (p.Gly678=)
2g.188999296T>CCA430310509COL3A1c.1935T>C (p.Gly645=)
c.2034T>C (p.Gly678=)
 ClinVar gnomAD v4
2g.188999296T>GCA430310510COL3A1c.1935T>G (p.Gly645=)
c.2034T>G (p.Gly678=)
2g.188999297G>ACA004914COL3A1c.1936G>A (p.Ala646Thr)
c.2035G>A (p.Ala679Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999297G>CCA16621986COL3A1c.1936G>C (p.Ala646Pro)
c.2035G>C (p.Ala679Pro)
2g.188999297G=CA1315400866COL3A1c.1936G= (p.Ala646=)
c.2035G= (p.Ala679=)
2g.188999297G>TCA349839815COL3A1c.1936G>T (p.Ala646Ser)
c.2035G>T (p.Ala679Ser)
 gnomAD v4
2g.188999298C>ACA349839822COL3A1c.1937C>A (p.Ala646Asp)
c.2036C>A (p.Ala679Asp)
 gnomAD v4
2g.188999298C>GCA349839819COL3A1c.1937C>G (p.Ala646Gly)
c.2036C>G (p.Ala679Gly)
 gnomAD v4
2g.188999298C>TCA349839818COL3A1c.1937C>T (p.Ala646Val)
c.2036C>T (p.Ala679Val)
 gnomAD v4
2g.188999299C>ACA430310511COL3A1c.1938C>A (p.Ala646=)
c.2037C>A (p.Ala679=)
 gnomAD v4
2g.188999299C>GCA430310512COL3A1c.1938C>G (p.Ala646=)
c.2037C>G (p.Ala679=)
2g.188999299C>TCA430310513COL3A1c.1938C>T (p.Ala646=)
c.2037C>T (p.Ala679=)
 gnomAD v4
2g.188999300C>ACA349839827COL3A1c.1939C>A (p.Pro647Thr)
c.2038C>A (p.Pro680Thr)
 gnomAD v4
2g.188999300C=CA1315400867COL3A1c.1939C= (p.Pro647=)
c.2038C= (p.Pro680=)
2g.188999300C>GCA349839823COL3A1c.1939C>G (p.Pro647Ala)
c.2038C>G (p.Pro680Ala)
2g.188999300C>TCA62554428COL3A1c.1939C>T (p.Pro647Ser)
c.2038C>T (p.Pro680Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188999301C>ACA349839832COL3A1c.1940C>A (p.Pro647His)
c.2039C>A (p.Pro680His)
 gnomAD v4
2g.188999301C>GCA349839838COL3A1c.1940C>G (p.Pro647Arg)
c.2039C>G (p.Pro680Arg)
2g.188999301C>TCA349839842COL3A1c.1940C>T (p.Pro647Leu)
c.2039C>T (p.Pro680Leu)
 gnomAD v4
2g.188999302T>ACA62554432COL3A1c.1941T>A (p.Pro647=)
c.2040T>A (p.Pro680=)
 dbSNP
2g.188999302T>CCA430310514COL3A1c.1941T>C (p.Pro647=)
c.2040T>C (p.Pro680=)
 gnomAD v4
2g.188999302T>GCA430310515COL3A1c.1941T>G (p.Pro647=)
c.2040T>G (p.Pro680=)
2g.188999302T=CA1315400868COL3A1c.1941T= (p.Pro647=)
c.2040T= (p.Pro680=)
2g.188999303G>ACA349839844COL3A1c.1942G>A (p.Gly648Ser)
c.2041G>A (p.Gly681Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.188999303G>CCA349839845COL3A1c.1942G>C (p.Gly648Arg)
c.2041G>C (p.Gly681Arg)
2g.188999303G=CA1315400869COL3A1c.1942G= (p.Gly648=)
c.2041G= (p.Gly681=)
2g.188999303G>TCA349839846COL3A1c.1942G>T (p.Gly648Cys)
c.2041G>T (p.Gly681Cys)
 gnomAD v4
2g.188999304G>ACA349839847COL3A1c.1943G>A (p.Gly648Asp)
c.2042G>A (p.Gly681Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188999304G>CCA349839857COL3A1c.1943G>C (p.Gly648Ala)
c.2042G>C (p.Gly681Ala)
2g.188999304G=CA1315400870COL3A1c.1943G= (p.Gly648=)
c.2042G= (p.Gly681=)
2g.188999304G>TCA349839858COL3A1c.1943G>T (p.Gly648Val)
c.2042G>T (p.Gly681Val)
 gnomAD v4
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

Number of alleles fetched