| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45984303G>A | CA501145 | COL6A1 | c.262G>A (p.Ala88Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45984303G>C | CA410515805 | COL6A1 | c.262G>C (p.Ala88Pro) | |
| 21 | g.45984303G= | CA2392430012 | COL6A1 | c.262G= (p.Ala88=) | |
| 21 | g.45984303G>T | CA410515806 | COL6A1 | c.262G>T (p.Ala88Ser) | ClinVar |
| 21 | g.45984304C>A | CA410515807 | COL6A1 | c.263C>A (p.Ala88Glu) | |
| 21 | g.45984304C= | CA2392430013 | COL6A1 | c.263C= (p.Ala88=) | |
| 21 | g.45984304C>G | CA410515808 | COL6A1 | c.263C>G (p.Ala88Gly) | |
| 21 | g.45984304C>T | CA410515809 | COL6A1 | c.263C>T (p.Ala88Val) | dbSNP gnomAD v4 |
| 21 | g.45984305A>C | CA513169035 | COL6A1 | c.264A>C (p.Ala88=) | |
| 21 | g.45984305A>G | CA513169036 | COL6A1 | c.264A>G (p.Ala88=) | |
| 21 | g.45984305A>T | CA513169037 | COL6A1 | c.264A>T (p.Ala88=) | |
| 21 | g.45984306G>A | CA410515810 | COL6A1 | c.265G>A (p.Gly89Ser) | |
| 21 | g.45984306G>C | CA410515813 | COL6A1 | c.265G>C (p.Gly89Arg) | |
| 21 | g.45984306G>T | CA410515811 | COL6A1 | c.265G>T (p.Gly89Cys) | |
| 21 | g.45984307G>A | CA410515816 | COL6A1 | c.266G>A (p.Gly89Asp) | |
| 21 | g.45984307G>C | CA410515818 | COL6A1 | c.266G>C (p.Gly89Ala) | |
| 21 | g.45984307G>T | CA410515821 | COL6A1 | c.266G>T (p.Gly89Val) | gnomAD v4 COSMIC |
| 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 |