Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188996436_189001956del | CA916081383 | COL3A1 | c.1602_2293-342del c.1701_2392-342del | ClinVar |
2 | g.188999272A>G | CA2662309023 | COL3A1 | c.1924-13A>G (n.1924-13A>G) c.2023-13A>G (n.2023-13A>G) | gnomAD v4 |
2 | g.188999273T>A | CA538464140 | COL3A1 | c.1924-12T>A (n.1924-12T>A) c.2023-12T>A (n.2023-12T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188999273T>C | CA1139657563 | COL3A1 | c.1924-12T>C (n.1924-12T>C) c.2023-12T>C (n.2023-12T>C) | ClinVar dbSNP |
2 | g.188999273T= | CA1315400858 | COL3A1 | c.1924-12T= (n.1924-12T=) c.2023-12T= (n.2023-12T=) | |
2 | g.188999277del | CA2662309024 | COL3A1 | c.1924-8del (n.1924-8del) c.2023-8del (n.2023-8del) | gnomAD v4 |
2 | g.188999275T>A | CA2577185634 | COL3A1 | c.1924-10T>A (n.1924-10T>A) c.2023-10T>A (n.2023-10T>A) | gnomAD v4 |
2 | g.188999275T>C | CA2662309025 | COL3A1 | c.1924-10T>C (n.1924-10T>C) c.2023-10T>C (n.2023-10T>C) | gnomAD v4 |
2 | g.188999276T>C | CA2662309026 | COL3A1 | c.1924-9T>C (n.1924-9T>C) c.2023-9T>C (n.2023-9T>C) | gnomAD v4 |
2 | g.188999277T>C | CA1315400860 | COL3A1 | c.1924-8T>C (n.1924-8T>C) c.2023-8T>C (n.2023-8T>C) | dbSNP gnomAD v4 |
2 | g.188999277T= | CA1315400859 | COL3A1 | c.1924-8T= (n.1924-8T=) c.2023-8T= (n.2023-8T=) | |
2 | g.188999278G>A | CA2662309027 | COL3A1 | c.1924-7G>A (n.1924-7G>A) c.2023-7G>A (n.2023-7G>A) | gnomAD v4 |
2 | g.188999278G>C | CA2753572427 | COL3A1 | c.1924-7G>C (n.1924-7G>C) c.2023-7G>C (n.2023-7G>C) | |
2 | g.188999278G= | CA1315400861 | COL3A1 | c.1924-7G= (n.1924-7G=) c.2023-7G= (n.2023-7G=) | |
2 | g.188999278G>T | CA538464141 | COL3A1 | c.1924-7G>T (n.1924-7G>T) c.2023-7G>T (n.2023-7G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188999280C>A | CA2662309028 | COL3A1 | c.1924-5C>A (n.1924-5C>A) c.2023-5C>A (n.2023-5C>A) | gnomAD v4 |
2 | g.188999281A= | CA1315400862 | COL3A1 | c.1924-4A= (n.1924-4A=) c.2023-4A= (n.2023-4A=) | |
2 | g.188999281A>G | CA2662309029 | COL3A1 | c.1924-4A>G (n.1924-4A>G) c.2023-4A>G (n.2023-4A>G) | ClinVar gnomAD v4 |
2 | g.188999281A>T | CA074947 | COL3A1 | c.1924-4A>T (n.1924-4A>T) c.2023-4A>T (n.2023-4A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188999282C>A | CA2662309030 | COL3A1 | c.1924-3C>A (n.1924-3C>A) c.2023-3C>A (n.2023-3C>A) | gnomAD v4 |
2 | g.188999282C= | CA1315400863 | COL3A1 | c.1924-3C= (n.1924-3C=) c.2023-3C= (n.2023-3C=) | |
2 | g.188999282C>G | CA2662309031 | COL3A1 | c.1924-3C>G (n.1924-3C>G) c.2023-3C>G (n.2023-3C>G) | gnomAD v4 |
2 | g.188999282C>T | CA538464142 | COL3A1 | c.1924-3C>T (n.1924-3C>T) c.2023-3C>T (n.2023-3C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188999283A>C | CA349839698 | COL3A1 | c.1924-2A>C (n.1924-2A>C) c.2023-2A>C (n.2023-2A>C) | |
2 | g.188999283A>G | CA349839701 | COL3A1 | c.1924-2A>G (n.1924-2A>G) c.2023-2A>G (n.2023-2A>G) | |
2 | g.188999283A>T | CA349839703 | COL3A1 | c.1924-2A>T (n.1924-2A>T) c.2023-2A>T (n.2023-2A>T) | |
2 | g.188999284G>A | CA004899 | COL3A1 | c.1924-1G>A (n.1924-1G>A) c.2023-1G>A (n.2023-1G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.188999284G>C | CA349839715 | COL3A1 | c.1924-1G>C (n.1924-1G>C) c.2023-1G>C (n.2023-1G>C) | |
2 | g.188999284G= | CA1315400864 | COL3A1 | c.1924-1G= (n.1924-1G=) c.2023-1G= (n.2023-1G=) | |
2 | g.188999284G>T | CA349839708 | COL3A1 | c.1924-1G>T (n.1924-1G>T) c.2023-1G>T (n.2023-1G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188999285G>A | CA349839728 | COL3A1 | c.1924G>A (p.Gly642Ser) c.2023G>A (p.Gly675Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.188999285G>C | CA349839734 | COL3A1 | c.1924G>C (p.Gly642Arg) c.2023G>C (p.Gly675Arg) | |
2 | g.188999285G>T | CA349839732 | COL3A1 | c.1924G>T (p.Gly642Cys) c.2023G>T (p.Gly675Cys) | gnomAD v4 |
2 | g.188999286G>A | CA349839737 | COL3A1 | c.1925G>A (p.Gly642Asp) c.2024G>A (p.Gly675Asp) | dbSNP |
2 | g.188999286G>C | CA349839741 | COL3A1 | c.1925G>C (p.Gly642Ala) c.2024G>C (p.Gly675Ala) | |
2 | g.188999286G= | CA1315400865 | COL3A1 | c.1925G= (p.Gly642=) c.2024G= (p.Gly675=) | |
2 | g.188999286G>T | CA004907 | COL3A1 | c.1925G>T (p.Gly642Val) c.2024G>T (p.Gly675Val) | ClinVar dbSNP |
2 | g.188999287T>A | CA430310501 | COL3A1 | c.1926T>A (p.Gly642=) c.2025T>A (p.Gly675=) | |
2 | g.188999287T>C | CA430310502 | COL3A1 | c.1926T>C (p.Gly642=) c.2025T>C (p.Gly675=) | gnomAD v4 |
2 | g.188999287T>G | CA430310503 | COL3A1 | c.1926T>G (p.Gly642=) c.2025T>G (p.Gly675=) | |
2 | g.188999288G>A | CA349839746 | COL3A1 | c.1927G>A (p.Asp643Asn) c.2026G>A (p.Asp676Asn) | gnomAD v4 |
2 | g.188999288G>C | CA349839758 | COL3A1 | c.1927G>C (p.Asp643His) c.2026G>C (p.Asp676His) | |
2 | g.188999288G>T | CA349839769 | COL3A1 | c.1927G>T (p.Asp643Tyr) c.2026G>T (p.Asp676Tyr) | gnomAD v4 |
2 | g.188999289A>C | CA349839771 | COL3A1 | c.1928A>C (p.Asp643Ala) c.2027A>C (p.Asp676Ala) | |
2 | g.188999289A>G | CA349839773 | COL3A1 | c.1928A>G (p.Asp643Gly) c.2027A>G (p.Asp676Gly) | |
2 | g.188999289A>T | CA349839775 | COL3A1 | c.1928A>T (p.Asp643Val) c.2027A>T (p.Asp676Val) | gnomAD v4 |
2 | g.188999290T>A | CA349839777 | COL3A1 | c.1929T>A (p.Asp643Glu) c.2028T>A (p.Asp676Glu) | |
2 | g.188999290T>C | CA430310504 | COL3A1 | c.1929T>C (p.Asp643=) c.2028T>C (p.Asp676=) | |
2 | g.188999290T>G | CA349839778 | COL3A1 | c.1929T>G (p.Asp643Glu) c.2028T>G (p.Asp676Glu) | |
2 | g.188999291G>A | CA349839783 | COL3A1 | c.1930G>A (p.Ala644Thr) c.2029G>A (p.Ala677Thr) | |
2 | g.188999291G>C | CA349839780 | COL3A1 | c.1930G>C (p.Ala644Pro) c.2029G>C (p.Ala677Pro) | |
2 | g.188999291G>T | CA349839779 | COL3A1 | c.1930G>T (p.Ala644Ser) c.2029G>T (p.Ala677Ser) | gnomAD v4 |
2 | g.188999292C>A | CA349839786 | COL3A1 | c.1931C>A (p.Ala644Asp) c.2030C>A (p.Ala677Asp) | gnomAD v4 |
2 | g.188999292C>G | CA349839787 | COL3A1 | c.1931C>G (p.Ala644Gly) c.2030C>G (p.Ala677Gly) | ClinVar dbSNP |
2 | g.188999292C>T | CA349839788 | COL3A1 | c.1931C>T (p.Ala644Val) c.2030C>T (p.Ala677Val) | gnomAD v4 |
2 | g.188999293T>A | CA430310505 | COL3A1 | c.1932T>A (p.Ala644=) c.2031T>A (p.Ala677=) | |
2 | g.188999293T>C | CA430310506 | COL3A1 | c.1932T>C (p.Ala644=) c.2031T>C (p.Ala677=) | |
2 | g.188999293T>G | CA430310507 | COL3A1 | c.1932T>G (p.Ala644=) c.2031T>G (p.Ala677=) | |
2 | g.188999294G>A | CA349839790 | COL3A1 | c.1933G>A (p.Gly645Ser) c.2032G>A (p.Gly678Ser) | gnomAD v4 |
2 | g.188999294G>C | CA349839791 | COL3A1 | c.1933G>C (p.Gly645Arg) c.2032G>C (p.Gly678Arg) | |
2 | g.188999294G>T | CA349839794 | COL3A1 | c.1933G>T (p.Gly645Cys) c.2032G>T (p.Gly678Cys) | gnomAD v4 |
2 | g.188999295G>A | CA349839795 | COL3A1 | c.1934G>A (p.Gly645Asp) c.2033G>A (p.Gly678Asp) | |
2 | g.188999295G>C | CA349839796 | COL3A1 | c.1934G>C (p.Gly645Ala) c.2033G>C (p.Gly678Ala) | |
2 | g.188999295G>T | CA349839797 | COL3A1 | c.1934G>T (p.Gly645Val) c.2033G>T (p.Gly678Val) | gnomAD v4 COSMIC COSMIC |
2 | g.188999296T>A | CA430310508 | COL3A1 | c.1935T>A (p.Gly645=) c.2034T>A (p.Gly678=) | |
2 | g.188999296T>C | CA430310509 | COL3A1 | c.1935T>C (p.Gly645=) c.2034T>C (p.Gly678=) | ClinVar gnomAD v4 |
2 | g.188999296T>G | CA430310510 | COL3A1 | c.1935T>G (p.Gly645=) c.2034T>G (p.Gly678=) | |
2 | g.188999297G>A | CA004914 | COL3A1 | c.1936G>A (p.Ala646Thr) c.2035G>A (p.Ala679Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188999297G>C | CA16621986 | COL3A1 | c.1936G>C (p.Ala646Pro) c.2035G>C (p.Ala679Pro) | |
2 | g.188999297G= | CA1315400866 | COL3A1 | c.1936G= (p.Ala646=) c.2035G= (p.Ala679=) | |
2 | g.188999297G>T | CA349839815 | COL3A1 | c.1936G>T (p.Ala646Ser) c.2035G>T (p.Ala679Ser) | gnomAD v4 |
2 | g.188999298C>A | CA349839822 | COL3A1 | c.1937C>A (p.Ala646Asp) c.2036C>A (p.Ala679Asp) | gnomAD v4 |
2 | g.188999298C>G | CA349839819 | COL3A1 | c.1937C>G (p.Ala646Gly) c.2036C>G (p.Ala679Gly) | gnomAD v4 |
2 | g.188999298C>T | CA349839818 | COL3A1 | c.1937C>T (p.Ala646Val) c.2036C>T (p.Ala679Val) | gnomAD v4 |
2 | g.188999299C>A | CA430310511 | COL3A1 | c.1938C>A (p.Ala646=) c.2037C>A (p.Ala679=) | gnomAD v4 |
2 | g.188999299C>G | CA430310512 | COL3A1 | c.1938C>G (p.Ala646=) c.2037C>G (p.Ala679=) | |
2 | g.188999299C>T | CA430310513 | COL3A1 | c.1938C>T (p.Ala646=) c.2037C>T (p.Ala679=) | gnomAD v4 |
2 | g.188999300C>A | CA349839827 | COL3A1 | c.1939C>A (p.Pro647Thr) c.2038C>A (p.Pro680Thr) | gnomAD v4 |
2 | g.188999300C= | CA1315400867 | COL3A1 | c.1939C= (p.Pro647=) c.2038C= (p.Pro680=) | |
2 | g.188999300C>G | CA349839823 | COL3A1 | c.1939C>G (p.Pro647Ala) c.2038C>G (p.Pro680Ala) | |
2 | g.188999300C>T | CA62554428 | COL3A1 | c.1939C>T (p.Pro647Ser) c.2038C>T (p.Pro680Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188999301C>A | CA349839832 | COL3A1 | c.1940C>A (p.Pro647His) c.2039C>A (p.Pro680His) | gnomAD v4 |
2 | g.188999301C>G | CA349839838 | COL3A1 | c.1940C>G (p.Pro647Arg) c.2039C>G (p.Pro680Arg) | |
2 | g.188999301C>T | CA349839842 | COL3A1 | c.1940C>T (p.Pro647Leu) c.2039C>T (p.Pro680Leu) | gnomAD v4 |
2 | g.188999302T>A | CA62554432 | COL3A1 | c.1941T>A (p.Pro647=) c.2040T>A (p.Pro680=) | dbSNP |
2 | g.188999302T>C | CA430310514 | COL3A1 | c.1941T>C (p.Pro647=) c.2040T>C (p.Pro680=) | gnomAD v4 |
2 | g.188999302T>G | CA430310515 | COL3A1 | c.1941T>G (p.Pro647=) c.2040T>G (p.Pro680=) | |
2 | g.188999302T= | CA1315400868 | COL3A1 | c.1941T= (p.Pro647=) c.2040T= (p.Pro680=) | |
2 | g.188999303G>A | CA349839844 | COL3A1 | c.1942G>A (p.Gly648Ser) c.2041G>A (p.Gly681Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188999303G>C | CA349839845 | COL3A1 | c.1942G>C (p.Gly648Arg) c.2041G>C (p.Gly681Arg) | |
2 | g.188999303G= | CA1315400869 | COL3A1 | c.1942G= (p.Gly648=) c.2041G= (p.Gly681=) | |
2 | g.188999303G>T | CA349839846 | COL3A1 | c.1942G>T (p.Gly648Cys) c.2041G>T (p.Gly681Cys) | gnomAD v4 |
2 | g.188999304G>A | CA349839847 | COL3A1 | c.1943G>A (p.Gly648Asp) c.2042G>A (p.Gly681Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188999304G>C | CA349839857 | COL3A1 | c.1943G>C (p.Gly648Ala) c.2042G>C (p.Gly681Ala) | |
2 | g.188999304G= | CA1315400870 | COL3A1 | c.1943G= (p.Gly648=) c.2042G= (p.Gly681=) | |
2 | g.188999304G>T | CA349839858 | COL3A1 | c.1943G>T (p.Gly648Val) c.2042G>T (p.Gly681Val) | gnomAD v4 |
2 | g.188999305T>A | CA430310516 | COL3A1 | c.1944T>A (p.Gly648=) c.2043T>A (p.Gly681=) | |
2 | g.188999305T>C | CA074954 | COL3A1 | c.1944T>C (p.Gly648=) c.2043T>C (p.Gly681=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188999305T>G | CA430310517 | COL3A1 | c.1944T>G (p.Gly648=) c.2043T>G (p.Gly681=) | |
2 | g.188999305T= | CA1315400871 | COL3A1 | c.1944T= (p.Gly648=) c.2043T= (p.Gly681=) | |
2 | g.188999306G>A | CA349839882 | COL3A1 | c.1945G>A (p.Glu649Lys) c.2044G>A (p.Glu682Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.188999306G>C | CA349839884 | COL3A1 | c.1945G>C (p.Glu649Gln) c.2044G>C (p.Glu682Gln) | |
2 | g.188999306G>T | CA349839876 | COL3A1 | c.1945G>T (p.Glu649Ter) c.2044G>T (p.Glu682Ter) | gnomAD v4 |
2 | g.188999307A>C | CA349839890 | COL3A1 | c.1946A>C (p.Glu649Ala) c.2045A>C (p.Glu682Ala) | |
2 | g.188999307A>G | CA349839893 | COL3A1 | c.1946A>G (p.Glu649Gly) c.2045A>G (p.Glu682Gly) | gnomAD v4 |
2 | g.188999307A>T | CA349839895 | COL3A1 | c.1946A>T (p.Glu649Val) c.2045A>T (p.Glu682Val) | gnomAD v4 |
2 | g.188999308A= | CA1315400872 | COL3A1 | c.1947A= (p.Glu649=) c.2046A= (p.Glu682=) | |
2 | g.188999308A>C | CA349839899 | COL3A1 | c.1947A>C (p.Glu649Asp) c.2046A>C (p.Glu682Asp) | COSMIC COSMIC |
2 | g.188999308A>G | CA430310518 | COL3A1 | c.1947A>G (p.Glu649=) c.2046A>G (p.Glu682=) | |
2 | g.188999308A>T | CA349839901 | COL3A1 | c.1947A>T (p.Glu649Asp) c.2046A>T (p.Glu682Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188999309C>A | CA349839913 | COL3A1 | c.1948C>A (p.Arg650Ser) c.2047C>A (p.Arg683Ser) | COSMIC COSMIC |
2 | g.188999309C= | CA1315400873 | COL3A1 | c.1948C= (p.Arg650=) c.2047C= (p.Arg683=) | |
2 | g.188999309C>G | CA349839906 | COL3A1 | c.1948C>G (p.Arg650Gly) c.2047C>G (p.Arg683Gly) | |
2 | g.188999309C>T | CA349839909 | COL3A1 | c.1948C>T (p.Arg650Cys) c.2047C>T (p.Arg683Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188999310G>A | CA074957 | COL3A1 | c.1949G>A (p.Arg650His) c.2048G>A (p.Arg683His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188999310G>C | CA349839921 | COL3A1 | c.1949G>C (p.Arg650Pro) c.2048G>C (p.Arg683Pro) | |
2 | g.188999310G= | CA1315400874 | COL3A1 | c.1949G= (p.Arg650=) c.2048G= (p.Arg683=) | |
2 | g.188999310G>T | CA349839923 | COL3A1 | c.1949G>T (p.Arg650Leu) c.2048G>T (p.Arg683Leu) | gnomAD v4 |
2 | g.188999311T>A | CA430310520 | COL3A1 | c.1950T>A (p.Arg650=) c.2049T>A (p.Arg683=) | |
2 | g.188999311T>C | CA430310521 | COL3A1 | c.1950T>C (p.Arg650=) c.2049T>C (p.Arg683=) | gnomAD v4 |
2 | g.188999311T>G | CA430310519 | COL3A1 | c.1950T>G (p.Arg650=) c.2049T>G (p.Arg683=) | |
2 | g.188999312G>A | CA349839928 | COL3A1 | c.1951G>A (p.Gly651Arg) c.2050G>A (p.Gly684Arg) | gnomAD v4 |
2 | g.188999312G>C | CA349839932 | COL3A1 | c.1951G>C (p.Gly651Arg) c.2050G>C (p.Gly684Arg) | |
2 | g.188999312G>T | CA349839936 | COL3A1 | c.1951G>T (p.Gly651Ter) c.2050G>T (p.Gly684Ter) | gnomAD v4 |
2 | g.188999313G>A | CA349839940 | COL3A1 | c.1952G>A (p.Gly651Glu) c.2051G>A (p.Gly684Glu) | ClinVar dbSNP |
2 | g.188999313G>C | CA349839944 | COL3A1 | c.1952G>C (p.Gly651Ala) c.2051G>C (p.Gly684Ala) | COSMIC COSMIC |
2 | g.188999313G= | CA1315400875 | COL3A1 | c.1952G= (p.Gly651=) c.2051G= (p.Gly684=) | |
2 | g.188999313G>T | CA004930 | COL3A1 | c.1952G>T (p.Gly651Val) c.2051G>T (p.Gly684Val) | ClinVar dbSNP gnomAD v4 |
2 | g.188999314A>C | CA430310524 | COL3A1 | c.1953A>C (p.Gly651=) c.2052A>C (p.Gly684=) | |
2 | g.188999314A>G | CA430310523 | COL3A1 | c.1953A>G (p.Gly651=) c.2052A>G (p.Gly684=) | gnomAD v4 |
2 | g.188999314A>T | CA430310522 | COL3A1 | c.1953A>T (p.Gly651=) c.2052A>T (p.Gly684=) | |
2 | g.188999315C>A | CA349839948 | COL3A1 | c.1954C>A (p.Pro652Thr) c.2053C>A (p.Pro685Thr) | gnomAD v4 |
2 | g.188999315C>G | CA349839958 | COL3A1 | c.1954C>G (p.Pro652Ala) c.2053C>G (p.Pro685Ala) | |
2 | g.188999315C>T | CA349839962 | COL3A1 | c.1954C>T (p.Pro652Ser) c.2053C>T (p.Pro685Ser) | ClinVar gnomAD v4 |
2 | g.188999316C>A | CA349839968 | COL3A1 | c.1955C>A (p.Pro652His) c.2054C>A (p.Pro685His) | |
2 | g.188999316C>G | CA349839971 | COL3A1 | c.1955C>G (p.Pro652Arg) c.2054C>G (p.Pro685Arg) | |
2 | g.188999316C>T | CA349839972 | COL3A1 | c.1955C>T (p.Pro652Leu) c.2054C>T (p.Pro685Leu) | |
2 | g.188999317T>A | CA430310525 | COL3A1 | c.1956T>A (p.Pro652=) c.2055T>A (p.Pro685=) | |
2 | g.188999317T>C | CA430310527 | COL3A1 | c.1956T>C (p.Pro652=) c.2055T>C (p.Pro685=) | |
2 | g.188999317T>G | CA430310526 | COL3A1 | c.1956T>G (p.Pro652=) c.2055T>G (p.Pro685=) | |
2 | g.188999317_188999318delinsTC | CA1315400876 | COL3A1 | c.1956_1957delinsTC (p.Pro652=) c.2055_2056delinsTC (p.Pro685=) | |
2 | g.188999318C>A | CA349839981 | COL3A1 | c.1957C>A (p.Pro653Thr) c.2056C>A (p.Pro686Thr) | |
2 | g.188999318C= | CA1315400877 | COL3A1 | c.1957C= (p.Pro653=) c.2056C= (p.Pro686=) | |
2 | g.188999318C>G | CA004938 | COL3A1 | c.1957C>G (p.Pro653Ala) c.2056C>G (p.Pro686Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188999318C>T | CA349839977 | COL3A1 | c.1957C>T (p.Pro653Ser) c.2056C>T (p.Pro686Ser) | |
2 | g.188999319del | CA913189727 | COL3A1 | c.1958del (p.Pro653LeufsTer?) c.2057del (p.Pro686LeufsTer?) | ClinVar dbSNP |
2 | g.188999319C>A | CA349839986 | COL3A1 | c.1958C>A (p.Pro653His) c.2057C>A (p.Pro686His) | ClinVar gnomAD v4 |
2 | g.188999319C>G | CA349839988 | COL3A1 | c.1958C>G (p.Pro653Arg) c.2057C>G (p.Pro686Arg) | |
2 | g.188999319C>T | CA349839992 | COL3A1 | c.1958C>T (p.Pro653Leu) c.2057C>T (p.Pro686Leu) | gnomAD v4 |
2 | g.188999320T>A | CA430310528 | COL3A1 | c.1959T>A (p.Pro653=) c.2058T>A (p.Pro686=) | |
2 | g.188999320T>C | CA430310529 | COL3A1 | c.1959T>C (p.Pro653=) c.2058T>C (p.Pro686=) | gnomAD v4 |
2 | g.188999320T>G | CA430310530 | COL3A1 | c.1959T>G (p.Pro653=) c.2058T>G (p.Pro686=) | |
2 | g.188999321G>A | CA349839994 | COL3A1 | c.1960G>A (p.Gly654Arg) c.2059G>A (p.Gly687Arg) | |
2 | g.188999321G>C | CA004946 | COL3A1 | c.1960G>C (p.Gly654Arg) c.2059G>C (p.Gly687Arg) | ClinVar dbSNP |
2 | g.188999321G= | CA1315400878 | COL3A1 | c.1960G= (p.Gly654=) c.2059G= (p.Gly687=) | |
2 | g.188999321G>T | CA349840001 | COL3A1 | c.1960G>T (p.Gly654Ter) c.2059G>T (p.Gly687Ter) | gnomAD v4 |
2 | g.188999322G>A | CA349840006 | COL3A1 | c.1961G>A (p.Gly654Glu) c.2060G>A (p.Gly687Glu) | |
2 | g.188999322G>C | CA349840011 | COL3A1 | c.1961G>C (p.Gly654Ala) c.2060G>C (p.Gly687Ala) | ClinVar |
2 | g.188999322G>T | CA349840008 | COL3A1 | c.1961G>T (p.Gly654Val) c.2060G>T (p.Gly687Val) | gnomAD v4 |
2 | g.188999323A>C | CA430310531 | COL3A1 | c.1962A>C (p.Gly654=) c.2061A>C (p.Gly687=) | |
2 | g.188999323A>G | CA430310532 | COL3A1 | c.1962A>G (p.Gly654=) c.2061A>G (p.Gly687=) | |
2 | g.188999323A>T | CA430310533 | COL3A1 | c.1962A>T (p.Gly654=) c.2061A>T (p.Gly687=) | gnomAD v4 |
2 | g.188999324T>A | CA349840015 | COL3A1 | c.1963T>A (p.Leu655Met) c.2062T>A (p.Leu688Met) | ClinVar gnomAD v4 |
2 | g.188999324T>C | CA430310534 | COL3A1 | c.1963T>C (p.Leu655=) c.2062T>C (p.Leu688=) | |
2 | g.188999324T>G | CA349840018 | COL3A1 | c.1963T>G (p.Leu655Val) c.2062T>G (p.Leu688Val) | |
2 | g.188999325T>A | CA349840022 | COL3A1 | c.1964T>A (p.Leu655Ter) c.2063T>A (p.Leu688Ter) | |
2 | g.188999325T>C | CA349840024 | COL3A1 | c.1964T>C (p.Leu655Ser) c.2063T>C (p.Leu688Ser) | gnomAD v4 |
2 | g.188999325T>G | CA349840028 | COL3A1 | c.1964T>G (p.Leu655Trp) c.2063T>G (p.Leu688Trp) | dbSNP |
2 | g.188999325_188999331delinsTGGCAGG | CA1315400879 | COL3A1 | c.1964_1970delinsTGGCAGG (p.Leu655=) c.2063_2069delinsTGGCAGG (p.Leu688=) | |
2 | g.188999326G>A | CA074969 | COL3A1 | c.1965G>A (p.Leu655=) c.2064G>A (p.Leu688=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188999326G>C | CA349840035 | COL3A1 | c.1965G>C (p.Leu655Phe) c.2064G>C (p.Leu688Phe) | |
2 | g.188999326G= | CA1315400880 | COL3A1 | c.1965G= (p.Leu655=) c.2064G= (p.Leu688=) | |
2 | g.188999326G>T | CA349840044 | COL3A1 | c.1965G>T (p.Leu655Phe) c.2064G>T (p.Leu688Phe) | gnomAD v4 |
2 | g.188999329_188999334del | CA915942287 | COL3A1 | c.1968_1973del (p.Gly657_Ala658del) c.2067_2072del (p.Gly690_Ala691del) | ClinVar dbSNP gnomAD v4 |
2 | g.188999327G>A | CA349840049 | COL3A1 | c.1966G>A (p.Ala656Thr) c.2065G>A (p.Ala689Thr) | gnomAD v4 |
2 | g.188999327G>C | CA349840053 | COL3A1 | c.1966G>C (p.Ala656Pro) c.2065G>C (p.Ala689Pro) | |
2 | g.188999327G= | CA1315400881 | COL3A1 | c.1966G= (p.Ala656=) c.2065G= (p.Ala689=) | |
2 | g.188999327G>T | CA10611757 | COL3A1 | c.1966G>T (p.Ala656Ser) c.2065G>T (p.Ala689Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.188999328C>A | CA349840059 | COL3A1 | c.1967C>A (p.Ala656Glu) c.2066C>A (p.Ala689Glu) | dbSNP gnomAD v4 |
2 | g.188999328C>G | CA349840064 | COL3A1 | c.1967C>G (p.Ala656Gly) c.2066C>G (p.Ala689Gly) | |
2 | g.188999328C>T | CA349840061 | COL3A1 | c.1967C>T (p.Ala656Val) c.2066C>T (p.Ala689Val) | gnomAD v4 |
2 | g.188999329A= | CA1315400882 | COL3A1 | c.1968A= (p.Ala656=) c.2067A= (p.Ala689=) | |
2 | g.188999329A>C | CA430310535 | COL3A1 | c.1968A>C (p.Ala656=) c.2067A>C (p.Ala689=) | dbSNP |
2 | g.188999329A>G | CA430310536 | COL3A1 | c.1968A>G (p.Ala656=) c.2067A>G (p.Ala689=) | gnomAD v4 |
2 | g.188999329A>T | CA430310537 | COL3A1 | c.1968A>T (p.Ala656=) c.2067A>T (p.Ala689=) | gnomAD v4 |
2 | g.188999330G>A | CA004953 | COL3A1 | c.1969G>A (p.Gly657Arg) c.2068G>A (p.Gly690Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.188999330G>C | CA349840073 | COL3A1 | c.1969G>C (p.Gly657Arg) c.2068G>C (p.Gly690Arg) | |
2 | g.188999330G= | CA1315400883 | COL3A1 | c.1969G= (p.Gly657=) c.2068G= (p.Gly690=) | |
2 | g.188999330G>T | CA349840075 | COL3A1 | c.1969G>T (p.Gly657Trp) c.2068G>T (p.Gly690Trp) | gnomAD v4 |
2 | g.188999333dup | CA538467197 | COL3A1 | c.1972dup (p.Ala658GlyfsTer5) c.2071dup (p.Ala691GlyfsTer5) | dbSNP gnomAD v2 |
2 | g.188999331G>A | CA349840081 | COL3A1 | c.1970G>A (p.Gly657Glu) c.2069G>A (p.Gly690Glu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.188999331G>C | CA349840083 | COL3A1 | c.1970G>C (p.Gly657Ala) c.2069G>C (p.Gly690Ala) | |
2 | g.188999331G= | CA1315400884 | COL3A1 | c.1970G= (p.Gly657=) c.2069G= (p.Gly690=) | |
2 | g.188999331G>T | CA004964 | COL3A1 | c.1970G>T (p.Gly657Val) c.2069G>T (p.Gly690Val) | ClinVar dbSNP gnomAD v4 |
2 | g.188999332G>A | CA430310538 | COL3A1 | c.1971G>A (p.Gly657=) c.2070G>A (p.Gly690=) | ClinVar dbSNP |
2 | g.188999332G>C | CA430310540 | COL3A1 | c.1971G>C (p.Gly657=) c.2070G>C (p.Gly690=) | gnomAD v4 |
2 | g.188999332G= | CA1315400885 | COL3A1 | c.1971G= (p.Gly657=) c.2070G= (p.Gly690=) | |
2 | g.188999332G>T | CA430310539 | COL3A1 | c.1971G>T (p.Gly657=) c.2070G>T (p.Gly690=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188999333G>A | CA349840092 | COL3A1 | c.1972G>A (p.Ala658Thr) c.2071G>A (p.Ala691Thr) | ClinVar gnomAD v4 |
2 | g.188999333G>C | CA349840095 | COL3A1 | c.1972G>C (p.Ala658Pro) c.2071G>C (p.Ala691Pro) | |
2 | g.188999333G= | CA1315400886 | COL3A1 | c.1972G= (p.Ala658=) c.2071G= (p.Ala691=) | |
2 | g.188999333G>T | CA349840098 | COL3A1 | c.1972G>T (p.Ala658Ser) c.2071G>T (p.Ala691Ser) | dbSNP gnomAD v4 |
2 | g.188999334C>A | CA349840103 | COL3A1 | c.1973C>A (p.Ala658Asp) c.2072C>A (p.Ala691Asp) | gnomAD v4 |
2 | g.188999334C= | CA1315400887 | COL3A1 | c.1973C= (p.Ala658=) c.2072C= (p.Ala691=) | |
2 | g.188999334C>G | CA074972 | COL3A1 | c.1973C>G (p.Ala658Gly) c.2072C>G (p.Ala691Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188999334C>T | CA349840108 | COL3A1 | c.1973C>T (p.Ala658Val) c.2072C>T (p.Ala691Val) | ClinVar dbSNP gnomAD v4 |
2 | g.188999335C>A | CA430310541 | COL3A1 | c.1974C>A (p.Ala658=) c.2073C>A (p.Ala691=) | gnomAD v4 |
2 | g.188999335C>G | CA430310542 | COL3A1 | c.1974C>G (p.Ala658=) c.2073C>G (p.Ala691=) | |
2 | g.188999335C>T | CA430310543 | COL3A1 | c.1974C>T (p.Ala658=) c.2073C>T (p.Ala691=) | |
2 | g.188999336C>A | CA349840117 | COL3A1 | c.1975C>A (p.Pro659Thr) c.2074C>A (p.Pro692Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188999336C= | CA1315400888 | COL3A1 | c.1975C= (p.Pro659=) c.2074C= (p.Pro692=) | |
2 | g.188999336C>G | CA349840111 | COL3A1 | c.1975C>G (p.Pro659Ala) c.2074C>G (p.Pro692Ala) | |
2 | g.188999336C>T | CA349840114 | COL3A1 | c.1975C>T (p.Pro659Ser) c.2074C>T (p.Pro692Ser) | gnomAD v4 |
2 | g.188999337C>A | CA074975 | COL3A1 | c.1976C>A (p.Pro659Gln) c.2075C>A (p.Pro692Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188999337C= | CA1315400889 | COL3A1 | c.1976C= (p.Pro659=) c.2075C= (p.Pro692=) | |
2 | g.188999337C>G | CA349840122 | COL3A1 | c.1976C>G (p.Pro659Arg) c.2075C>G (p.Pro692Arg) | |
2 | g.188999337C>T | CA349840125 | COL3A1 | c.1976C>T (p.Pro659Leu) c.2075C>T (p.Pro692Leu) | ClinVar |
2 | g.188999338A= | CA1315400890 | COL3A1 | c.1977A= (p.Pro659=) c.2076A= (p.Pro692=) | |
2 | g.188999338A>C | CA430310544 | COL3A1 | c.1977A>C (p.Pro659=) c.2076A>C (p.Pro692=) | dbSNP gnomAD v4 |
2 | g.188999338A>G | CA430310545 | COL3A1 | c.1977A>G (p.Pro659=) c.2076A>G (p.Pro692=) | gnomAD v4 COSMIC COSMIC |
2 | g.188999338A>T | CA430310546 | COL3A1 | c.1977A>T (p.Pro659=) c.2076A>T (p.Pro692=) | |
2 | g.188999339G>A | CA349840128 | COL3A1 | c.1978G>A (p.Gly660Arg) c.2077G>A (p.Gly693Arg) | gnomAD v4 |
2 | g.188999339G>C | CA349840130 | COL3A1 | c.1978G>C (p.Gly660Arg) c.2077G>C (p.Gly693Arg) | |
2 | g.188999339G>T | CA349840132 | COL3A1 | c.1978G>T (p.Gly660Ter) c.2077G>T (p.Gly693Ter) | gnomAD v4 COSMIC COSMIC |
2 | g.188999340G>A | CA349840137 | COL3A1 | c.1979G>A (p.Gly660Glu) c.2078G>A (p.Gly693Glu) | ClinVar COSMIC COSMIC |
2 | g.188999340G>C | CA004970 | COL3A1 | c.1979G>C (p.Gly660Ala) c.2078G>C (p.Gly693Ala) | ClinVar dbSNP |
2 | g.188999340G= | CA1315400891 | COL3A1 | c.1979G= (p.Gly660=) c.2078G= (p.Gly693=) | |
2 | g.188999340G>T | CA349840149 | COL3A1 | c.1979G>T (p.Gly660Val) c.2078G>T (p.Gly693Val) | ClinVar dbSNP gnomAD v4 |
2 | g.188999341A= | CA1315400892 | COL3A1 | c.1980A= (p.Gly660=) c.2079A= (p.Gly693=) | |
2 | g.188999341A>C | CA430310547 | COL3A1 | c.1980A>C (p.Gly660=) c.2079A>C (p.Gly693=) | |
2 | g.188999341A>G | CA430310548 | COL3A1 | c.1980A>G (p.Gly660=) c.2079A>G (p.Gly693=) | dbSNP |
2 | g.188999341A>T | CA430310549 | COL3A1 | c.1980A>T (p.Gly660=) c.2079A>T (p.Gly693=) | ClinVar dbSNP gnomAD v2 |
2 | g.188999342C>A | CA349840156 | COL3A1 | c.1981C>A (p.Leu661Ile) c.2080C>A (p.Leu694Ile) | gnomAD v4 |
2 | g.188999342C>G | CA349840158 | COL3A1 | c.1981C>G (p.Leu661Val) c.2080C>G (p.Leu694Val) | |
2 | g.188999342C>T | CA349840160 | COL3A1 | c.1981C>T (p.Leu661Phe) c.2080C>T (p.Leu694Phe) | |
2 | g.188999343T>A | CA349840171 | COL3A1 | c.1982T>A (p.Leu661His) c.2081T>A (p.Leu694His) | |
2 | g.188999343T>C | CA349840167 | COL3A1 | c.1982T>C (p.Leu661Pro) c.2081T>C (p.Leu694Pro) | |
2 | g.188999343T>G | CA349840164 | COL3A1 | c.1982T>G (p.Leu661Arg) c.2081T>G (p.Leu694Arg) | |
2 | g.188999344T>A | CA430310550 | COL3A1 | c.1983T>A (p.Leu661=) c.2082T>A (p.Leu694=) | |
2 | g.188999344T>C | CA430310551 | COL3A1 | c.1983T>C (p.Leu661=) c.2082T>C (p.Leu694=) | |
2 | g.188999344T>G | CA430310552 | COL3A1 | c.1983T>G (p.Leu661=) c.2082T>G (p.Leu694=) | |
2 | g.188999345A>C | CA430310553 | COL3A1 | c.1984A>C (p.Arg662=) c.2083A>C (p.Arg695=) | |
2 | g.188999345A>G | CA349840178 | COL3A1 | c.1984A>G (p.Arg662Gly) c.2083A>G (p.Arg695Gly) | |
2 | g.188999345A>T | CA349840175 | COL3A1 | c.1984A>T (p.Arg662Ter) c.2083A>T (p.Arg695Ter) | gnomAD v4 |
2 | g.188999346G>A | CA349840185 | COL3A1 | c.1985G>A (p.Arg662Lys) c.2084G>A (p.Arg695Lys) | ClinVar |
2 | g.188999346G>C | CA349840183 | COL3A1 | c.1985G>C (p.Arg662Thr) c.2084G>C (p.Arg695Thr) | |
2 | g.188999346G>T | CA349840189 | COL3A1 | c.1985G>T (p.Arg662Ile) c.2084G>T (p.Arg695Ile) | |
2 | g.188999347A= | CA1315400893 | COL3A1 | c.1986A= (p.Arg662=) c.2085A= (p.Arg695=) | |
2 | g.188999347A>C | CA349840192 | COL3A1 | c.1986A>C (p.Arg662Ser) c.2085A>C (p.Arg695Ser) | |
2 | g.188999347A>G | CA62554460 | COL3A1 | c.1986A>G (p.Arg662=) c.2085A>G (p.Arg695=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188999347A>T | CA349840195 | COL3A1 | c.1986A>T (p.Arg662Ser) c.2085A>T (p.Arg695Ser) | |
2 | g.188999348G>A | CA349840200 | COL3A1 | c.1987G>A (p.Gly663Ser) c.2086G>A (p.Gly696Ser) | |
2 | g.188999348G>C | CA349840204 | COL3A1 | c.1987G>C (p.Gly663Arg) c.2086G>C (p.Gly696Arg) | |
2 | g.188999348G>T | CA349840209 | COL3A1 | c.1987G>T (p.Gly663Cys) c.2086G>T (p.Gly696Cys) | gnomAD v4 |
2 | g.188999349G>A | CA004979 | COL3A1 | c.1988G>A (p.Gly663Asp) c.2087G>A (p.Gly696Asp) | ClinVar dbSNP |
2 | g.188999349G>C | CA349840214 | COL3A1 | c.1988G>C (p.Gly663Ala) c.2087G>C (p.Gly696Ala) | |
2 | g.188999349G= | CA1315400894 | COL3A1 | c.1988G= (p.Gly663=) c.2087G= (p.Gly696=) | |
2 | g.188999349G>T | CA349840218 | COL3A1 | c.1988G>T (p.Gly663Val) c.2087G>T (p.Gly696Val) | |
2 | g.188999350T>A | CA430310554 | COL3A1 | c.1989T>A (p.Gly663=) c.2088T>A (p.Gly696=) | |
2 | g.188999350T>C | CA430310555 | COL3A1 | c.1989T>C (p.Gly663=) c.2088T>C (p.Gly696=) | gnomAD v4 |
2 | g.188999350T>G | CA074978 | COL3A1 | c.1989T>G (p.Gly663=) c.2088T>G (p.Gly696=) | dbSNP ExAC gnomAD v4 |
2 | g.188999350T= | CA1315400895 | COL3A1 | c.1989T= (p.Gly663=) c.2088T= (p.Gly696=) | |
2 | g.188999351G>A | CA62554466 | COL3A1 | c.1990G>A (p.Gly664Arg) c.2089G>A (p.Gly697Arg) | dbSNP |
2 | g.188999351G>C | CA349840227 | COL3A1 | c.1990G>C (p.Gly664Arg) c.2089G>C (p.Gly697Arg) | |
2 | g.188999351G= | CA1315400896 | COL3A1 | c.1990G= (p.Gly664=) c.2089G= (p.Gly697=) | |
2 | g.188999351G>T | CA349840230 | COL3A1 | c.1990G>T (p.Gly664Ter) c.2089G>T (p.Gly697Ter) | |
2 | g.188999352G>A | CA349840236 | COL3A1 | c.1991G>A (p.Gly664Glu) c.2090G>A (p.Gly697Glu) | |
2 | g.188999352G>C | CA349840238 | COL3A1 | c.1991G>C (p.Gly664Ala) c.2090G>C (p.Gly697Ala) | |
2 | g.188999352G>T | CA349840242 | COL3A1 | c.1991G>T (p.Gly664Val) c.2090G>T (p.Gly697Val) | |
2 | g.188999353A= | CA1315400897 | COL3A1 | c.1992A= (p.Gly664=) c.2091A= (p.Gly697=) | |
2 | g.188999353A>C | CA430310557 | COL3A1 | c.1992A>C (p.Gly664=) c.2091A>C (p.Gly697=) | |
2 | g.188999353A>G | CA074981 | COL3A1 | c.1992A>G (p.Gly664=) c.2091A>G (p.Gly697=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188999353A>T | CA430310556 | COL3A1 | c.1992A>T (p.Gly664=) c.2091A>T (p.Gly697=) | |
2 | g.188999354G>A | CA004987 | COL3A1 | c.1993G>A (p.Ala665Thr) c.2092G>A (p.Ala698Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188999354G>C | CA349840253 | COL3A1 | c.1993G>C (p.Ala665Pro) c.2092G>C (p.Ala698Pro) | dbSNP |
2 | g.188999354G= | CA1315400898 | COL3A1 | c.1993G= (p.Ala665=) c.2092G= (p.Ala698=) | |
2 | g.188999354G>T | CA349840257 | COL3A1 | c.1993G>T (p.Ala665Ser) c.2092G>T (p.Ala698Ser) | dbSNP |
2 | g.188999354_188999359delinsACTGG | CA2695197093 | COL3A1 | c.1993_1998delinsACTGG (p.Ala665ThrfsTer?) c.2092_2097delinsACTGG (p.Ala698ThrfsTer?) | ClinVar |
2 | g.188999354_188999360delinsACTGTT | CA2697551450 | COL3A1 | c.1993_1999delinsACTGTT (p.Ala665ThrfsTer?) c.2092_2098delinsACTGTT (p.Ala698ThrfsTer?) | ClinVar |
2 | g.188999355C>A | CA349840262 | COL3A1 | c.1994C>A (p.Ala665Asp) c.2093C>A (p.Ala698Asp) | dbSNP gnomAD v2 |
2 | g.188999355C= | CA1315400899 | COL3A1 | c.1994C= (p.Ala665=) c.2093C= (p.Ala698=) | |
2 | g.188999355C>G | CA349840264 | COL3A1 | c.1994C>G (p.Ala665Gly) c.2093C>G (p.Ala698Gly) | dbSNP |
2 | g.188999355C>T | CA349840268 | COL3A1 | c.1994C>T (p.Ala665Val) c.2093C>T (p.Ala698Val) | dbSNP |
2 | g.188999356T>A | CA430310560 | COL3A1 | c.1995T>A (p.Ala665=) c.2094T>A (p.Ala698=) | |
2 | g.188999356T>C | CA430310558 | COL3A1 | c.1995T>C (p.Ala665=) c.2094T>C (p.Ala698=) | |
2 | g.188999356T>G | CA430310559 | COL3A1 | c.1995T>G (p.Ala665=) c.2094T>G (p.Ala698=) | |
2 | g.188999357G>A | CA349840273 | COL3A1 | c.1996G>A (p.Gly666Ser) c.2095G>A (p.Gly699Ser) | |
2 | g.188999357G>C | CA004993 | COL3A1 | c.1996G>C (p.Gly666Arg) c.2095G>C (p.Gly699Arg) | ClinVar dbSNP |
2 | g.188999357G= | CA1315400900 | COL3A1 | c.1996G= (p.Gly666=) c.2095G= (p.Gly699=) | |
2 | g.188999357G>T | CA349840277 | COL3A1 | c.1996G>T (p.Gly666Cys) c.2095G>T (p.Gly699Cys) | ClinVar |
2 | g.188999358G>A | CA005001 | COL3A1 | c.1997G>A (p.Gly666Asp) c.2096G>A (p.Gly699Asp) | ClinVar dbSNP |
2 | g.188999358G>C | CA349840284 | COL3A1 | c.1997G>C (p.Gly666Ala) c.2096G>C (p.Gly699Ala) | |
2 | g.188999358G= | CA1315400901 | COL3A1 | c.1997G= (p.Gly666=) c.2096G= (p.Gly699=) | |
2 | g.188999358G>T | CA349840287 | COL3A1 | c.1997G>T (p.Gly666Val) c.2096G>T (p.Gly699Val) | ClinVar dbSNP |
2 | g.188999359del | CA2586965481 | COL3A1 | c.1998del (p.Pro668LeufsTer?) c.2097del (p.Pro701LeufsTer?) | |
2 | g.188999359T>A | CA430310561 | COL3A1 | c.1998T>A (p.Gly666=) c.2097T>A (p.Gly699=) | |
2 | g.188999359T>C | CA430310563 | COL3A1 | c.1998T>C (p.Gly666=) c.2097T>C (p.Gly699=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188999359T>G | CA430310562 | COL3A1 | c.1998T>G (p.Gly666=) c.2097T>G (p.Gly699=) | |
2 | g.188999359T= | CA1315400902 | COL3A1 | c.1998T= (p.Gly666=) c.2097T= (p.Gly699=) | |
2 | g.188999359_188999360delinsTC | CA1315400903 | COL3A1 | c.1998_1999delinsTC (p.Gly666=) c.2097_2098delinsTC (p.Gly699=) | |
2 | g.188999360C>A | CA349840296 | COL3A1 | c.1999C>A (p.Pro667Thr) c.2098C>A (p.Pro700Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188999360C= | CA1315400904 | COL3A1 | c.1999C= (p.Pro667=) c.2098C= (p.Pro700=) | |
2 | g.188999360C>G | CA349840293 | COL3A1 | c.1999C>G (p.Pro667Ala) c.2098C>G (p.Pro700Ala) | |
2 | g.188999360C>T | CA349840291 | COL3A1 | c.1999C>T (p.Pro667Ser) c.2098C>T (p.Pro700Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188999364del | CA913189728 | COL3A1 | c.2003del (p.Pro668LeufsTer?) c.2102del (p.Pro701LeufsTer?) | ClinVar dbSNP |
2 | g.188999361C>A | CA349840299 | COL3A1 | c.2000C>A (p.Pro667His) c.2099C>A (p.Pro700His) | dbSNP |
2 | g.188999361C= | CA1315400905 | COL3A1 | c.2000C= (p.Pro667=) c.2099C= (p.Pro700=) | |
2 | g.188999361C>G | CA349840304 | COL3A1 | c.2000C>G (p.Pro667Arg) c.2099C>G (p.Pro700Arg) | |
2 | g.188999361C>T | CA349840307 | COL3A1 | c.2000C>T (p.Pro667Leu) c.2099C>T (p.Pro700Leu) | dbSNP gnomAD v2 |
2 | g.188999362C>A | CA430310564 | COL3A1 | c.2001C>A (p.Pro667=) c.2100C>A (p.Pro700=) | |
2 | g.188999362C>G | CA430310565 | COL3A1 | c.2001C>G (p.Pro667=) c.2100C>G (p.Pro700=) | |
2 | g.188999362C>T | CA430310566 | COL3A1 | c.2001C>T (p.Pro667=) c.2100C>T (p.Pro700=) | |
2 | g.188999363C>A | CA349840310 | COL3A1 | c.2002C>A (p.Pro668Thr) c.2101C>A (p.Pro701Thr) | |
2 | g.188999363C= | CA1315400906 | COL3A1 | c.2002C= (p.Pro668=) c.2101C= (p.Pro701=) | |
2 | g.188999363C>G | CA62554476 | COL3A1 | c.2002C>G (p.Pro668Ala) c.2101C>G (p.Pro701Ala) | ClinVar dbSNP gnomAD v4 |
2 | g.188999363C>T | CA349840315 | COL3A1 | c.2002C>T (p.Pro668Ser) c.2101C>T (p.Pro701Ser) | |
2 | g.188999364C>A | CA349840319 | COL3A1 | c.2003C>A (p.Pro668His) c.2102C>A (p.Pro701His) | |
2 | g.188999364C>G | CA349840322 | COL3A1 | c.2003C>G (p.Pro668Arg) c.2102C>G (p.Pro701Arg) | gnomAD v4 |
2 | g.188999364C>T | CA349840326 | COL3A1 | c.2003C>T (p.Pro668Leu) c.2102C>T (p.Pro701Leu) | |
2 | g.188999365T>A | CA430310567 | COL3A1 | c.2004T>A (p.Pro668=) c.2103T>A (p.Pro701=) | |
2 | g.188999365T>C | CA430310568 | COL3A1 | c.2004T>C (p.Pro668=) c.2103T>C (p.Pro701=) | ClinVar dbSNP gnomAD v4 |
2 | g.188999365T>G | CA430310569 | COL3A1 | c.2004T>G (p.Pro668=) c.2103T>G (p.Pro701=) | |
2 | g.188999365T= | CA1315400907 | COL3A1 | c.2004T= (p.Pro668=) c.2103T= (p.Pro701=) | |
2 | g.188999366G>A | CA349840333 | COL3A1 | c.2005G>A (p.Gly669Ser) c.2104G>A (p.Gly702Ser) | ClinVar |
2 | g.188999366G>C | CA349840341 | COL3A1 | c.2005G>C (p.Gly669Arg) c.2104G>C (p.Gly702Arg) | ClinVar dbSNP |
2 | g.188999366G>T | CA349840347 | COL3A1 | c.2005G>T (p.Gly669Cys) c.2104G>T (p.Gly702Cys) | |
2 | g.188999367G>A | CA005009 | COL3A1 | c.2006G>A (p.Gly669Asp) c.2105G>A (p.Gly702Asp) | ClinVar dbSNP |
2 | g.188999367G>C | CA349840351 | COL3A1 | c.2006G>C (p.Gly669Ala) c.2105G>C (p.Gly702Ala) | ClinVar dbSNP |
2 | g.188999367G= | CA1315400908 | COL3A1 | c.2006G= (p.Gly669=) c.2105G= (p.Gly702=) | |
2 | g.188999367G>T | CA005016 | COL3A1 | c.2006G>T (p.Gly669Val) c.2105G>T (p.Gly702Val) | ClinVar dbSNP |
2 | g.188999368T>A | CA430310570 | COL3A1 | c.2007T>A (p.Gly669=) c.2106T>A (p.Gly702=) | |
2 | g.188999368T>C | CA430310571 | COL3A1 | c.2007T>C (p.Gly669=) c.2106T>C (p.Gly702=) | |
2 | g.188999368T>G | CA62554481 | COL3A1 | c.2007T>G (p.Gly669=) c.2106T>G (p.Gly702=) | dbSNP |
2 | g.188999368T= | CA1315400909 | COL3A1 | c.2007T= (p.Gly669=) c.2106T= (p.Gly702=) | |
2 | g.188999369C>A | CA349840354 | COL3A1 | c.2008C>A (p.Pro670Thr) c.2107C>A (p.Pro703Thr) | gnomAD v4 |
2 | g.188999369C= | CA1315400910 | COL3A1 | c.2008C= (p.Pro670=) c.2107C= (p.Pro703=) | |
2 | g.188999369C>G | CA62554482 | COL3A1 | c.2008C>G (p.Pro670Ala) c.2107C>G (p.Pro703Ala) | ClinVar dbSNP |
2 | g.188999369C>T | CA074985 | COL3A1 | c.2008C>T (p.Pro670Ser) c.2107C>T (p.Pro703Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188999370C>A | CA349840362 | COL3A1 | c.2009C>A (p.Pro670His) c.2108C>A (p.Pro703His) | |
2 | g.188999370C= | CA1315400911 | COL3A1 | c.2009C= (p.Pro670=) c.2108C= (p.Pro703=) | |
2 | g.188999370C>G | CA349840364 | COL3A1 | c.2009C>G (p.Pro670Arg) c.2108C>G (p.Pro703Arg) | |
2 | g.188999370C>T | CA349840366 | COL3A1 | c.2009C>T (p.Pro670Leu) c.2108C>T (p.Pro703Leu) | ClinVar dbSNP COSMIC COSMIC |
2 | g.188999371C>A | CA430310572 | COL3A1 | c.2010C>A (p.Pro670=) c.2109C>A (p.Pro703=) | ClinVar dbSNP gnomAD v4 |
2 | g.188999371C= | CA1315400912 | COL3A1 | c.2010C= (p.Pro670=) c.2109C= (p.Pro703=) | |
2 | g.188999371C>G | CA430310573 | COL3A1 | c.2010C>G (p.Pro670=) c.2109C>G (p.Pro703=) | |
2 | g.188999371C>T | CA074988 | COL3A1 | c.2010C>T (p.Pro670=) c.2109C>T (p.Pro703=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |