| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45984403A= | CA2392430075 | COL6A1 | c.362A= (p.Lys121=) | |
| 21 | g.45984403A>C | CA410516186 | COL6A1 | c.362A>C (p.Lys121Thr) | |
| 21 | g.45984403A>G | CA221786 | COL6A1 | c.362A>G (p.Lys121Arg) | ClinVar dbSNP gnomAD v4 |
| 21 | g.45984403A>T | CA410516188 | COL6A1 | c.362A>T (p.Lys121Met) | |
| 21 | g.45984404G>A | CA513169118 | COL6A1 | c.363G>A (p.Lys121=) | gnomAD v4 |
| 21 | g.45984404G>C | CA410516191 | COL6A1 | c.363G>C (p.Lys121Asn) | |
| 21 | g.45984404G>T | CA410516192 | COL6A1 | c.363G>T (p.Lys121Asn) | |
| 21 | g.45984405T>A | CA410516193 | COL6A1 | c.364T>A (p.Tyr122Asn) | gnomAD v4 |
| 21 | g.45984405T>C | CA410516195 | COL6A1 | c.364T>C (p.Tyr122His) | |
| 21 | g.45984405T>G | CA410516196 | COL6A1 | c.364T>G (p.Tyr122Asp) | |
| 21 | g.45984406A= | CA2392430076 | COL6A1 | c.365A= (p.Tyr122=) | |
| 21 | g.45984406A>C | CA410516202 | COL6A1 | c.365A>C (p.Tyr122Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45984406A>G | CA410516198 | COL6A1 | c.365A>G (p.Tyr122Cys) | |
| 21 | g.45984406A>T | CA410516200 | COL6A1 | c.365A>T (p.Tyr122Phe) | |
| 21 | g.45984407C>A | CA410516204 | COL6A1 | c.366C>A (p.Tyr122Ter) | |
| 21 | g.45984407C= | CA2392430077 | COL6A1 | c.366C= (p.Tyr122=) | |
| 21 | g.45984407C>G | CA410516206 | COL6A1 | c.366C>G (p.Tyr122Ter) | gnomAD v4 |
| 21 | g.45984407C>T | CA10069547 | COL6A1 | c.366C>T (p.Tyr122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45984408T>A | CA410516210 | COL6A1 | c.367T>A (p.Phe123Ile) | gnomAD v4 |
| 21 | g.45984408T>C | CA410516211 | COL6A1 | c.367T>C (p.Phe123Leu) | |
| 21 | g.45984408T>G | CA410516213 | COL6A1 | c.367T>G (p.Phe123Val) | |
| 21 | g.45984409T>A | CA410516215 | COL6A1 | c.368T>A (p.Phe123Tyr) | |
| 21 | g.45984409T>C | CA410516217 | COL6A1 | c.368T>C (p.Phe123Ser) | |
| 21 | g.45984409T>G | CA410516220 | COL6A1 | c.368T>G (p.Phe123Cys) | |
| 21 | g.45984410T>A | CA410516222 | COL6A1 | c.369T>A (p.Phe123Leu) | |
| 21 | g.45984410T>C | CA513169124 | COL6A1 | c.369T>C (p.Phe123=) | |
| 21 | g.45984410T>G | CA410516224 | COL6A1 | c.369T>G (p.Phe123Leu) | |
| 21 | g.45984411G>A | CA410516228 | COL6A1 | c.370G>A (p.Gly124Arg) | |
| 21 | g.45984411G>C | CA410516229 | COL6A1 | c.370G>C (p.Gly124Arg) | gnomAD v4 |
| 21 | g.45984411G>T | CA410516227 | COL6A1 | c.370G>T (p.Gly124Trp) | |
| 21 | g.45984412G>A | CA410516232 | COL6A1 | c.371G>A (p.Gly124Glu) | dbSNP gnomAD v4 |
| 21 | g.45984412G>C | CA410516230 | COL6A1 | c.371G>C (p.Gly124Ala) | |
| 21 | g.45984412G= | CA2392430078 | COL6A1 | c.371G= (p.Gly124=) | |
| 21 | g.45984412G>T | CA410516231 | COL6A1 | c.371G>T (p.Gly124Val) | |
| 21 | g.45984413G>A | CA513169125 | COL6A1 | c.372G>A (p.Gly124=) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45984413G>C | CA513169126 | COL6A1 | c.372G>C (p.Gly124=) | |
| 21 | g.45984413G= | CA2392430079 | COL6A1 | c.372G= (p.Gly124=) | |
| 21 | g.45984413G>T | CA513169128 | COL6A1 | c.372G>T (p.Gly124=) | |
| 21 | g.45984414A>C | CA410516234 | COL6A1 | c.373A>C (p.Lys125Gln) | |
| 21 | g.45984414A>G | CA410516236 | COL6A1 | c.373A>G (p.Lys125Glu) | |
| 21 | g.45984414A>T | CA410516238 | COL6A1 | c.373A>T (p.Lys125Ter) | |
| 21 | g.45984415A>C | CA410516239 | COL6A1 | c.374A>C (p.Lys125Thr) | |
| 21 | g.45984415A>G | CA410516240 | COL6A1 | c.374A>G (p.Lys125Arg) | gnomAD v4 |
| 21 | g.45984415A>T | CA410516242 | COL6A1 | c.374A>T (p.Lys125Met) | |
| 21 | g.45984416G>A | CA513169133 | COL6A1 | c.375G>A (p.Lys125=) | |
| 21 | g.45984416G>C | CA410516244 | COL6A1 | c.375G>C (p.Lys125Asn) | ClinVar dbSNP |
| 21 | g.45984416G= | CA2392430080 | COL6A1 | c.375G= (p.Lys125=) | |
| 21 | g.45984416G>T | CA410516245 | COL6A1 | c.375G>T (p.Lys125Asn) | |
| 21 | g.45984417G>A | CA10605884 | COL6A1 | c.376G>A (p.Gly126Ser) | ClinVar dbSNP gnomAD v4 |
| 21 | g.45984417G>C | CA410516247 | COL6A1 | c.376G>C (p.Gly126Arg) |