Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.45984312C>A | CA410515839 | COL6A1 | c.271C>A (p.Leu91Met) | |
21 | g.45984312C>G | CA410515842 | COL6A1 | c.271C>G (p.Leu91Val) | |
21 | g.45984312C>T | CA513169042 | COL6A1 | c.271C>T (p.Leu91=) | |
21 | g.45984313T>A | CA410515845 | COL6A1 | c.272T>A (p.Leu91Gln) | |
21 | g.45984313T>C | CA410515847 | COL6A1 | c.272T>C (p.Leu91Pro) | |
21 | g.45984313T>G | CA410515849 | COL6A1 | c.272T>G (p.Leu91Arg) | |
21 | g.45984314G>A | CA10069515 | COL6A1 | c.273G>A (p.Leu91=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984314G>C | CA513169043 | COL6A1 | c.273G>C (p.Leu91=) | |
21 | g.45984314G= | CA2392430018 | COL6A1 | c.273G= (p.Leu91=) | |
21 | g.45984314G>T | CA513169044 | COL6A1 | c.273G>T (p.Leu91=) | |
21 | g.45984315C>A | CA410515854 | COL6A1 | c.274C>A (p.His92Asn) | |
21 | g.45984315C>G | CA410515856 | COL6A1 | c.274C>G (p.His92Asp) | |
21 | g.45984315C>T | CA410515858 | COL6A1 | c.274C>T (p.His92Tyr) | gnomAD v4 |
21 | g.45984316A= | CA2392430019 | COL6A1 | c.275A= (p.His92=) | |
21 | g.45984316A>C | CA410515862 | COL6A1 | c.275A>C (p.His92Pro) | |
21 | g.45984316A>G | CA410515864 | COL6A1 | c.275A>G (p.His92Arg) | dbSNP gnomAD v4 |
21 | g.45984316A>T | CA410515866 | COL6A1 | c.275A>T (p.His92Leu) | dbSNP gnomAD v2 |
21 | g.45984317C>A | CA410515869 | COL6A1 | c.276C>A (p.His92Gln) | |
21 | g.45984317C>G | CA410515872 | COL6A1 | c.276C>G (p.His92Gln) | gnomAD v4 |
21 | g.45984317C>T | CA513169045 | COL6A1 | c.276C>T (p.His92=) | |
21 | g.45984318T>A | CA410515875 | COL6A1 | c.277T>A (p.Tyr93Asn) | |
21 | g.45984318T>C | CA410515878 | COL6A1 | c.277T>C (p.Tyr93His) | |
21 | g.45984318T>G | CA410515879 | COL6A1 | c.277T>G (p.Tyr93Asp) | |
21 | g.45984319A= | CA2392430020 | COL6A1 | c.278A= (p.Tyr93=) | |
21 | g.45984319A>C | CA410515882 | COL6A1 | c.278A>C (p.Tyr93Ser) | |
21 | g.45984319A>G | CA410515884 | COL6A1 | c.278A>G (p.Tyr93Cys) | ClinVar |
21 | g.45984319A>T | CA410515887 | COL6A1 | c.278A>T (p.Tyr93Phe) | ClinVar dbSNP |
21 | g.45984320C>A | CA410515889 | COL6A1 | c.279C>A (p.Tyr93Ter) | |
21 | g.45984320C>G | CA410515891 | COL6A1 | c.279C>G (p.Tyr93Ter) | |
21 | g.45984320C>T | CA513169046 | COL6A1 | c.279C>T (p.Tyr93=) | gnomAD v4 |
21 | g.45984321A>C | CA410515895 | COL6A1 | c.280A>C (p.Ser94Arg) | |
21 | g.45984321A>G | CA410515897 | COL6A1 | c.280A>G (p.Ser94Gly) | |
21 | g.45984321A>T | CA410515899 | COL6A1 | c.280A>T (p.Ser94Cys) | |
21 | g.45984322G>A | CA410515906 | COL6A1 | c.281G>A (p.Ser94Asn) | |
21 | g.45984322G>C | CA410515904 | COL6A1 | c.281G>C (p.Ser94Thr) | |
21 | g.45984322G>T | CA410515902 | COL6A1 | c.281G>T (p.Ser94Ile) | |
21 | g.45984323T>A | CA410515907 | COL6A1 | c.282T>A (p.Ser94Arg) | |
21 | g.45984323T>C | CA513169047 | COL6A1 | c.282T>C (p.Ser94=) | |
21 | g.45984323T>G | CA410515909 | COL6A1 | c.282T>G (p.Ser94Arg) | |
21 | g.45984324G>A | CA410515913 | COL6A1 | c.283G>A (p.Asp95Asn) | gnomAD v4 |
21 | g.45984324G>C | CA410515916 | COL6A1 | c.283G>C (p.Asp95His) | |
21 | g.45984324G>T | CA410515917 | COL6A1 | c.283G>T (p.Asp95Tyr) | |
21 | g.45984325A>C | CA410515920 | COL6A1 | c.284A>C (p.Asp95Ala) | |
21 | g.45984325A>G | CA410515919 | COL6A1 | c.284A>G (p.Asp95Gly) | |
21 | g.45984325A>T | CA410515918 | COL6A1 | c.284A>T (p.Asp95Val) | |
21 | g.45984326C>A | CA410515922 | COL6A1 | c.285C>A (p.Asp95Glu) | |
21 | g.45984326C= | CA2392430021 | COL6A1 | c.285C= (p.Asp95=) | |
21 | g.45984326C>G | CA10069517 | COL6A1 | c.285C>G (p.Asp95Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984326C>T | CA10069516 | COL6A1 | c.285C>T (p.Asp95=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984327G>A | CA10069518 | COL6A1 | c.286G>A (p.Glu96Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |