Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188996436_189001956delCA916081383COL3A1c.1602_2293-342del
c.1701_2392-342del
 ClinVar
2g.188999241G>CCA538464132COL3A1c.1924-44G>C (n.1924-44G>C)
c.2023-44G>C (n.2023-44G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188999241G=CA1315400848COL3A1c.1924-44G= (n.1924-44G=)
c.2023-44G= (n.2023-44G=)
2g.188999241G>TCA538464133COL3A1c.1924-44G>T (n.1924-44G>T)
c.2023-44G>T (n.2023-44G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.188999242C>ACA2662309004COL3A1c.1924-43C>A (n.1924-43C>A)
c.2023-43C>A (n.2023-43C>A)
 gnomAD v4
2g.188999243T>CCA2577185629COL3A1c.1924-42T>C (n.1924-42T>C)
c.2023-42T>C (n.2023-42T>C)
2g.188999246G>CCA2753572424COL3A1c.1924-39G>C (n.1924-39G>C)
c.2023-39G>C (n.2023-39G>C)
2g.188999246G=CA1315400849COL3A1c.1924-39G= (n.1924-39G=)
c.2023-39G= (n.2023-39G=)
2g.188999246G>TCA074944COL3A1c.1924-39G>T (n.1924-39G>T)
c.2023-39G>T (n.2023-39G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999248delCA2753572423COL3A1c.1924-37del (n.1924-37del)
c.2023-37del (n.2023-37del)
2g.188999247G>ACA62554416COL3A1c.1924-38G>A (n.1924-38G>A)
c.2023-38G>A (n.2023-38G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.188999247G=CA1315400850COL3A1c.1924-38G= (n.1924-38G=)
c.2023-38G= (n.2023-38G=)
2g.188999248G>ACA538464135COL3A1c.1924-37G>A (n.1924-37G>A)
c.2023-37G>A (n.2023-37G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188999248G>CCA538464134COL3A1c.1924-37G>C (n.1924-37G>C)
c.2023-37G>C (n.2023-37G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.188999248G=CA1315400851COL3A1c.1924-37G= (n.1924-37G=)
c.2023-37G= (n.2023-37G=)
2g.188999248G>TCA2577185630COL3A1c.1924-37G>T (n.1924-37G>T)
c.2023-37G>T (n.2023-37G>T)
 gnomAD v4
2g.188999250T>GCA2662309005COL3A1c.1924-35T>G (n.1924-35T>G)
c.2023-35T>G (n.2023-35T>G)
 gnomAD v4
2g.188999251G=CA1315400852COL3A1c.1924-34G= (n.1924-34G=)
c.2023-34G= (n.2023-34G=)
2g.188999251G>TCA538464136COL3A1c.1924-34G>T (n.1924-34G>T)
c.2023-34G>T (n.2023-34G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.188999252T>CCA2662309006COL3A1c.1924-33T>C (n.1924-33T>C)
c.2023-33T>C (n.2023-33T>C)
 gnomAD v4
2g.188999253C>ACA2662309007COL3A1c.1924-32C>A (n.1924-32C>A)
c.2023-32C>A (n.2023-32C>A)
 gnomAD v4
2g.188999254T>ACA2662309008COL3A1c.1924-31T>A (n.1924-31T>A)
c.2023-31T>A (n.2023-31T>A)
 gnomAD v4
2g.188999254T>CCA2662309009COL3A1c.1924-31T>C (n.1924-31T>C)
c.2023-31T>C (n.2023-31T>C)
 gnomAD v4
2g.188999255A>TCA2577185632COL3A1c.1924-30A>T (n.1924-30A>T)
c.2023-30A>T (n.2023-30A>T)
2g.188999256delCA2577185631COL3A1c.1924-29del (n.1924-29del)
c.2023-29del (n.2023-29del)
2g.188999256A>TCA647397690COL3A1c.1924-29A>T (n.1924-29A>T)
c.2023-29A>T (n.2023-29A>T)
 COSMIC
2g.188999257T>ACA2577185633COL3A1c.1924-28T>A (n.1924-28T>A)
c.2023-28T>A (n.2023-28T>A)
 gnomAD v4
2g.188999257T>CCA538464137COL3A1c.1924-28T>C (n.1924-28T>C)
c.2023-28T>C (n.2023-28T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.188999257T=CA1315400853COL3A1c.1924-28T= (n.1924-28T=)
c.2023-28T= (n.2023-28T=)
2g.188999258A>TCA2662309010COL3A1c.1924-27A>T (n.1924-27A>T)
c.2023-27A>T (n.2023-27A>T)
 gnomAD v4
2g.188999259T>CCA538464138COL3A1c.1924-26T>C (n.1924-26T>C)
c.2023-26T>C (n.2023-26T>C)
 dbSNP gnomAD v2
2g.188999259T>GCA2662309011COL3A1c.1924-26T>G (n.1924-26T>G)
c.2023-26T>G (n.2023-26T>G)
 gnomAD v4
2g.188999259T=CA1315400854COL3A1c.1924-26T= (n.1924-26T=)
c.2023-26T= (n.2023-26T=)
2g.188999260G>ACA2662309012COL3A1c.1924-25G>A (n.1924-25G>A)
c.2023-25G>A (n.2023-25G>A)
 gnomAD v4
2g.188999260G>TCA2662309013COL3A1c.1924-25G>T (n.1924-25G>T)
c.2023-25G>T (n.2023-25G>T)
 gnomAD v4
2g.188999261G>ACA762199905COL3A1c.1924-24G>A (n.1924-24G>A)
c.2023-24G>A (n.2023-24G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.188999261G>CCA2662309014COL3A1c.1924-24G>C (n.1924-24G>C)
c.2023-24G>C (n.2023-24G>C)
 gnomAD v4
2g.188999261G=CA1315400855COL3A1c.1924-24G= (n.1924-24G=)
c.2023-24G= (n.2023-24G=)
2g.188999261G>TCA1315400856COL3A1c.1924-24G>T (n.1924-24G>T)
c.2023-24G>T (n.2023-24G>T)
 dbSNP gnomAD v4
2g.188999263delCA2662309015COL3A1c.1924-22del (n.1924-22del)
c.2023-22del (n.2023-22del)
 gnomAD v4
2g.188999263T>CCA2662309016COL3A1c.1924-22T>C (n.1924-22T>C)
c.2023-22T>C (n.2023-22T>C)
 gnomAD v4
2g.188999264A>GCA2753572426COL3A1c.1924-21A>G (n.1924-21A>G)
c.2023-21A>G (n.2023-21A>G)
2g.188999264A>TCA2662309017COL3A1c.1924-21A>T (n.1924-21A>T)
c.2023-21A>T (n.2023-21A>T)
 gnomAD v4
2g.188999265T>ACA2662309018COL3A1c.1924-20T>A (n.1924-20T>A)
c.2023-20T>A (n.2023-20T>A)
 gnomAD v4
2g.188999265T>CCA2662309019COL3A1c.1924-20T>C (n.1924-20T>C)
c.2023-20T>C (n.2023-20T>C)
 gnomAD v4
2g.188999268A>CCA2580065298COL3A1c.1924-17A>C (n.1924-17A>C)
c.2023-17A>C (n.2023-17A>C)
 ClinVar gnomAD v4
2g.188999268A>GCA2580065299COL3A1c.1924-17A>G (n.1924-17A>G)
c.2023-17A>G (n.2023-17A>G)
 ClinVar gnomAD v4
2g.188999268A>TCA2662309020COL3A1c.1924-17A>T (n.1924-17A>T)
c.2023-17A>T (n.2023-17A>T)
 gnomAD v4
2g.188999269C>ACA2662309021COL3A1c.1924-16C>A (n.1924-16C>A)
c.2023-16C>A (n.2023-16C>A)
 gnomAD v4
2g.188999269C>TCA2662309022COL3A1c.1924-16C>T (n.1924-16C>T)
c.2023-16C>T (n.2023-16C>T)
 gnomAD v4
2g.188999270A=CA1315400857COL3A1c.1924-15A= (n.1924-15A=)
c.2023-15A= (n.2023-15A=)
2g.188999270A>CCA074940COL3A1c.1924-15A>C (n.1924-15A>C)
c.2023-15A>C (n.2023-15A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999270A>GCA538464139COL3A1c.1924-15A>G (n.1924-15A>G)
c.2023-15A>G (n.2023-15A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
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

Number of alleles fetched