Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.45984308C>A | CA513169038 | COL6A1 | c.267C>A (p.Gly89=) | |
21 | g.45984308C= | CA2392430014 | COL6A1 | c.267C= (p.Gly89=) | |
21 | g.45984308C>G | CA513169039 | COL6A1 | c.267C>G (p.Gly89=) | |
21 | g.45984308C>T | CA10069511 | COL6A1 | c.267C>T (p.Gly89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984309G>A | CA10069512 | COL6A1 | c.268G>A (p.Ala90Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984309G>C | CA410515830 | COL6A1 | c.268G>C (p.Ala90Pro) | |
21 | g.45984309G= | CA2392430015 | COL6A1 | c.268G= (p.Ala90=) | |
21 | g.45984309G>T | CA410515828 | COL6A1 | c.268G>T (p.Ala90Ser) | |
21 | g.45984310C>A | CA410515832 | COL6A1 | c.269C>A (p.Ala90Glu) | gnomAD v4 |
21 | g.45984310C= | CA2392430016 | COL6A1 | c.269C= (p.Ala90=) | |
21 | g.45984310C>G | CA410515836 | COL6A1 | c.269C>G (p.Ala90Gly) | ClinVar dbSNP |
21 | g.45984310C>T | CA10069513 | COL6A1 | c.269C>T (p.Ala90Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984311G>A | CA10069514 | COL6A1 | c.270G>A (p.Ala90=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984311G>C | CA513169040 | COL6A1 | c.270G>C (p.Ala90=) | |
21 | g.45984311G= | CA2392430017 | COL6A1 | c.270G= (p.Ala90=) | |
21 | g.45984311G>T | CA513169041 | COL6A1 | c.270G>T (p.Ala90=) | |
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) |