| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45984352_45984387delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA | CA2392430036 | COL6A1 | c.311_346delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA (p.Thr104=) | |
| 21 | g.45984356_45984390del | CA10605169 | COL6A1 | c.315_349del (p.Met106GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
| 21 | g.45984365C>A | CA513169071 | COL6A1 | c.324C>A (p.Gly108=) | dbSNP |
| 21 | g.45984365C= | CA2392430044 | COL6A1 | c.324C= (p.Gly108=) | |
| 21 | g.45984365C>G | CA513169072 | COL6A1 | c.324C>G (p.Gly108=) | |
| 21 | g.45984365C>T | CA243240 | COL6A1 | c.324C>T (p.Gly108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45984366G>A | CA10604838 | COL6A1 | c.325G>A (p.Gly109Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45984366G>C | CA410516036 | COL6A1 | c.325G>C (p.Gly109Arg) | dbSNP |
| 21 | g.45984366G= | CA2392430045 | COL6A1 | c.325G= (p.Gly109=) | |
| 21 | g.45984366G>T | CA410516037 | COL6A1 | c.325G>T (p.Gly109Cys) | |
| 21 | g.45984367G>A | CA410516040 | COL6A1 | c.326G>A (p.Gly109Asp) | |
| 21 | g.45984367G>C | CA410516042 | COL6A1 | c.326G>C (p.Gly109Ala) | |
| 21 | g.45984367G>T | CA410516043 | COL6A1 | c.326G>T (p.Gly109Val) | gnomAD v4 |
| 21 | g.45984367_45984368del | CA2499225993 | COL6A1 | c.326_327del (p.Gly109AlafsTer?) | dbSNP |
| 21 | g.45984368C>A | CA513169073 | COL6A1 | c.327C>A (p.Gly109=) | |
| 21 | g.45984368C= | CA2392430046 | COL6A1 | c.327C= (p.Gly109=) | |
| 21 | g.45984368C>G | CA513169074 | COL6A1 | c.327C>G (p.Gly109=) | |
| 21 | g.45984368C>T | CA513169075 | COL6A1 | c.327C>T (p.Gly109=) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45984369C>A | CA410516046 | COL6A1 | c.328C>A (p.Arg110Ser) | |
| 21 | g.45984369C= | CA2392430047 | COL6A1 | c.328C= (p.Arg110=) | |
| 21 | g.45984369C>G | CA16609071 | COL6A1 | c.328C>G (p.Arg110Gly) | ClinVar dbSNP gnomAD v4 |
| 21 | g.45984369C>T | CA321954885 | COL6A1 | c.328C>T (p.Arg110Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45984372_45984376del | CA2654956322 | COL6A1 | c.331_335del (p.Asp111ThrfsTer?) | gnomAD v4 |
| 21 | g.45984370G>A | CA10069528 | COL6A1 | c.329G>A (p.Arg110His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45984370G>C | CA410516050 | COL6A1 | c.329G>C (p.Arg110Pro) | |
| 21 | g.45984370G= | CA2392430048 | COL6A1 | c.329G= (p.Arg110=) | |
| 21 | g.45984370G>T | CA410516051 | COL6A1 | c.329G>T (p.Arg110Leu) | |
| 21 | g.45984371C>A | CA513169077 | COL6A1 | c.330C>A (p.Arg110=) | |
| 21 | g.45984371C= | CA2392430049 | COL6A1 | c.330C= (p.Arg110=) | |
| 21 | g.45984371C>G | CA513169076 | COL6A1 | c.330C>G (p.Arg110=) | |
| 21 | g.45984371C>T | CA10069529 | COL6A1 | c.330C>T (p.Arg110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 21 | g.45984371_45984377delinsCGACGCA | CA2392430050 | COL6A1 | c.330_336delinsCGACGCA (p.Arg110=) | |
| 21 | g.45984371_45984380del | CA2577628304 | COL6A1 | c.330_339del (p.Asp111LysfsTer?) | |
| 21 | g.45984372G>A | CA410516055 | COL6A1 | c.331G>A (p.Asp111Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45984372G>C | CA410516056 | COL6A1 | c.331G>C (p.Asp111His) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45984372G= | CA2392430052 | COL6A1 | c.331G= (p.Asp111=) | |
| 21 | g.45984372G>T | CA410516058 | COL6A1 | c.331G>T (p.Asp111Tyr) | |
| 21 | g.45984372_45984377del | CA2392430051 | COL6A1 | c.331_336del (p.Asp111_Ala112del) | dbSNP |
| 21 | g.45984373A>C | CA410516060 | COL6A1 | c.332A>C (p.Asp111Ala) | |
| 21 | g.45984373A>G | CA410516062 | COL6A1 | c.332A>G (p.Asp111Gly) | |
| 21 | g.45984373A>T | CA410516064 | COL6A1 | c.332A>T (p.Asp111Val) | |
| 21 | g.45984374C>A | CA410516066 | COL6A1 | c.333C>A (p.Asp111Glu) | |
| 21 | g.45984374C= | CA2392430053 | COL6A1 | c.333C= (p.Asp111=) | |
| 21 | g.45984374C>G | CA410516067 | COL6A1 | c.333C>G (p.Asp111Glu) | |
| 21 | g.45984374C>T | CA513169078 | COL6A1 | c.333C>T (p.Asp111=) | dbSNP gnomAD v4 |
| 21 | g.45984375G>A | CA10069531 | COL6A1 | c.334G>A (p.Ala112Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.45984375G>C | CA410516069 | COL6A1 | c.334G>C (p.Ala112Pro) | dbSNP |
| 21 | g.45984375G= | CA2392430054 | COL6A1 | c.334G= (p.Ala112=) | |
| 21 | g.45984375G>T | CA10069530 | COL6A1 | c.334G>T (p.Ala112Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45984376C>A | CA410516072 | COL6A1 | c.335C>A (p.Ala112Glu) |