Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188996436_189001956del | CA916081383 | COL3A1 | c.1602_2293-342del c.1701_2392-342del | ClinVar |
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 |