| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237344516C>A | CA351202546 | COL6A3 | c.147G>T c.6884G>T (p.Arg2295Leu) c.7502G>T (p.Arg2501Leu) c.5678G>T (p.Arg1893Leu) c.5681G>T (p.Arg1894Leu) n.1756G>T c.6902G>T (p.Arg2301Leu) c.6281G>T (p.Arg2094Leu) c.7001G>T (p.Arg2334Leu) c.7499G>T (p.Arg2500Leu) c.5096G>T (p.Arg1699Leu) | |
| 2 | g.237344516C= | CA1337610914 | COL6A3 | c.147G= c.6884G= (p.Arg2295=) c.7502G= (p.Arg2501=) c.5678G= (p.Arg1893=) c.5681G= (p.Arg1894=) n.1756G= c.6902G= (p.Arg2301=) c.6281G= (p.Arg2094=) c.7001G= (p.Arg2334=) c.7499G= (p.Arg2500=) c.5096G= (p.Arg1699=) | |
| 2 | g.237344516C>G | CA351202554 | COL6A3 | c.147G>C c.6884G>C (p.Arg2295Pro) c.7502G>C (p.Arg2501Pro) c.5678G>C (p.Arg1893Pro) c.5681G>C (p.Arg1894Pro) n.1756G>C c.6902G>C (p.Arg2301Pro) c.6281G>C (p.Arg2094Pro) c.7001G>C (p.Arg2334Pro) c.7499G>C (p.Arg2500Pro) c.5096G>C (p.Arg1699Pro) | |
| 2 | g.237344516C>T | CA200149 | COL6A3 | c.147G>A c.6884G>A (p.Arg2295His) c.7502G>A (p.Arg2501His) c.5678G>A (p.Arg1893His) c.5681G>A (p.Arg1894His) n.1756G>A c.6902G>A (p.Arg2301His) c.6281G>A (p.Arg2094His) c.7001G>A (p.Arg2334His) c.7499G>A (p.Arg2500His) c.5096G>A (p.Arg1699His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.237344517G>A | CA351202560 | COL6A3 | c.146C>T c.6883C>T (p.Arg2295Cys) c.7501C>T (p.Arg2501Cys) c.5677C>T (p.Arg1893Cys) c.5680C>T (p.Arg1894Cys) n.1755C>T c.6901C>T (p.Arg2301Cys) c.6280C>T (p.Arg2094Cys) c.7000C>T (p.Arg2334Cys) c.7498C>T (p.Arg2500Cys) c.5095C>T (p.Arg1699Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237344517G>C | CA351202561 | COL6A3 | c.146C>G c.6883C>G (p.Arg2295Gly) c.7501C>G (p.Arg2501Gly) c.5677C>G (p.Arg1893Gly) c.5680C>G (p.Arg1894Gly) n.1755C>G c.6901C>G (p.Arg2301Gly) c.6280C>G (p.Arg2094Gly) c.7000C>G (p.Arg2334Gly) c.7498C>G (p.Arg2500Gly) c.5095C>G (p.Arg1699Gly) | |
| 2 | g.237344517G= | CA1337610915 | COL6A3 | c.146C= c.6883C= (p.Arg2295=) c.7501C= (p.Arg2501=) c.5677C= (p.Arg1893=) c.5680C= (p.Arg1894=) n.1755C= c.6901C= (p.Arg2301=) c.6280C= (p.Arg2094=) c.7000C= (p.Arg2334=) c.7498C= (p.Arg2500=) c.5095C= (p.Arg1699=) | |
| 2 | g.237344517G>T | CA351202567 | COL6A3 | c.146C>A c.6883C>A (p.Arg2295Ser) c.7501C>A (p.Arg2501Ser) c.5677C>A (p.Arg1893Ser) c.5680C>A (p.Arg1894Ser) n.1755C>A c.6901C>A (p.Arg2301Ser) c.6280C>A (p.Arg2094Ser) c.7000C>A (p.Arg2334Ser) c.7498C>A (p.Arg2500Ser) c.5095C>A (p.Arg1699Ser) | dbSNP gnomAD v4 |
| 2 | g.237344518C>A | CA351202569 | COL6A3 | c.145G>T c.6882G>T (p.Lys2294Asn) c.7500G>T (p.Lys2500Asn) c.5676G>T (p.Lys1892Asn) c.5679G>T (p.Lys1893Asn) n.1754G>T c.6900G>T (p.Lys2300Asn) c.6279G>T (p.Lys2093Asn) c.6999G>T (p.Lys2333Asn) c.7497G>T (p.Lys2499Asn) c.5094G>T (p.Lys1698Asn) | |
| 2 | g.237344518C= | CA1337610916 | COL6A3 | c.145G= c.6882G= (p.Lys2294=) c.7500G= (p.Lys2500=) c.5676G= (p.Lys1892=) c.5679G= (p.Lys1893=) n.1754G= c.6900G= (p.Lys2300=) c.6279G= (p.Lys2093=) c.6999G= (p.Lys2333=) c.7497G= (p.Lys2499=) c.5094G= (p.Lys1698=) | |
| 2 | g.237344518C>G | CA351202572 | COL6A3 | c.145G>C c.6882G>C (p.Lys2294Asn) c.7500G>C (p.Lys2500Asn) c.5676G>C (p.Lys1892Asn) c.5679G>C (p.Lys1893Asn) n.1754G>C c.6900G>C (p.Lys2300Asn) c.6279G>C (p.Lys2093Asn) c.6999G>C (p.Lys2333Asn) c.7497G>C (p.Lys2499Asn) c.5094G>C (p.Lys1698Asn) | |
| 2 | g.237344518C>T | CA431710401 | COL6A3 | c.145G>A c.6882G>A (p.Lys2294=) c.7500G>A (p.Lys2500=) c.5676G>A (p.Lys1892=) c.5679G>A (p.Lys1893=) n.1754G>A c.6900G>A (p.Lys2300=) c.6279G>A (p.Lys2093=) c.6999G>A (p.Lys2333=) c.7497G>A (p.Lys2499=) c.5094G>A (p.Lys1698=) | dbSNP gnomAD v4 |
| 2 | g.237344519T>A | CA351202575 | COL6A3 | c.144A>T c.6881A>T (p.Lys2294Met) c.7499A>T (p.Lys2500Met) c.5675A>T (p.Lys1892Met) c.5678A>T (p.Lys1893Met) n.1753A>T c.6899A>T (p.Lys2300Met) c.6278A>T (p.Lys2093Met) c.6998A>T (p.Lys2333Met) c.7496A>T (p.Lys2499Met) c.5093A>T (p.Lys1698Met) | |
| 2 | g.237344519T>C | CA351202581 | COL6A3 | c.144A>G c.6881A>G (p.Lys2294Arg) c.7499A>G (p.Lys2500Arg) c.5675A>G (p.Lys1892Arg) c.5678A>G (p.Lys1893Arg) n.1753A>G c.6899A>G (p.Lys2300Arg) c.6278A>G (p.Lys2093Arg) c.6998A>G (p.Lys2333Arg) c.7496A>G (p.Lys2499Arg) c.5093A>G (p.Lys1698Arg) | dbSNP |
| 2 | g.237344519T>G | CA351202586 | COL6A3 | c.144A>C c.6881A>C (p.Lys2294Thr) c.7499A>C (p.Lys2500Thr) c.5675A>C (p.Lys1892Thr) c.5678A>C (p.Lys1893Thr) n.1753A>C c.6899A>C (p.Lys2300Thr) c.6278A>C (p.Lys2093Thr) c.6998A>C (p.Lys2333Thr) c.7496A>C (p.Lys2499Thr) c.5093A>C (p.Lys1698Thr) | |
| 2 | g.237344519T= | CA1337610917 | COL6A3 | c.144A= c.6881A= (p.Lys2294=) c.7499A= (p.Lys2500=) c.5675A= (p.Lys1892=) c.5678A= (p.Lys1893=) n.1753A= c.6899A= (p.Lys2300=) c.6278A= (p.Lys2093=) c.6998A= (p.Lys2333=) c.7496A= (p.Lys2499=) c.5093A= (p.Lys1698=) | |
| 2 | g.237344520T>A | CA351202590 | COL6A3 | c.143A>T c.6880A>T (p.Lys2294Ter) c.7498A>T (p.Lys2500Ter) c.5674A>T (p.Lys1892Ter) c.5677A>T (p.Lys1893Ter) n.1752A>T c.6898A>T (p.Lys2300Ter) c.6277A>T (p.Lys2093Ter) c.6997A>T (p.Lys2333Ter) c.7495A>T (p.Lys2499Ter) c.5092A>T (p.Lys1698Ter) | |
| 2 | g.237344520T>C | CA351202592 | COL6A3 | c.143A>G c.6880A>G (p.Lys2294Glu) c.7498A>G (p.Lys2500Glu) c.5674A>G (p.Lys1892Glu) c.5677A>G (p.Lys1893Glu) n.1752A>G c.6898A>G (p.Lys2300Glu) c.6277A>G (p.Lys2093Glu) c.6997A>G (p.Lys2333Glu) c.7495A>G (p.Lys2499Glu) c.5092A>G (p.Lys1698Glu) | |
| 2 | g.237344520T>G | CA351202594 | COL6A3 | c.143A>C c.6880A>C (p.Lys2294Gln) c.7498A>C (p.Lys2500Gln) c.5674A>C (p.Lys1892Gln) c.5677A>C (p.Lys1893Gln) n.1752A>C c.6898A>C (p.Lys2300Gln) c.6277A>C (p.Lys2093Gln) c.6997A>C (p.Lys2333Gln) c.7495A>C (p.Lys2499Gln) c.5092A>C (p.Lys1698Gln) | |
| 2 | g.237344521A>C | CA351202597 | COL6A3 | c.142T>G c.6879T>G (p.Phe2293Leu) c.7497T>G (p.Phe2499Leu) c.5673T>G (p.Phe1891Leu) c.5676T>G (p.Phe1892Leu) n.1751T>G c.6897T>G (p.Phe2299Leu) c.6276T>G (p.Phe2092Leu) c.6996T>G (p.Phe2332Leu) c.7494T>G (p.Phe2498Leu) c.5091T>G (p.Phe1697Leu) | |
| 2 | g.237344521A>G | CA431710410 | COL6A3 | c.142T>C c.6879T>C (p.Phe2293=) c.7497T>C (p.Phe2499=) c.5673T>C (p.Phe1891=) c.5676T>C (p.Phe1892=) n.1751T>C c.6897T>C (p.Phe2299=) c.6276T>C (p.Phe2092=) c.6996T>C (p.Phe2332=) c.7494T>C (p.Phe2498=) c.5091T>C (p.Phe1697=) | |
| 2 | g.237344521A>T | CA351202600 | COL6A3 | c.142T>A c.6879T>A (p.Phe2293Leu) c.7497T>A (p.Phe2499Leu) c.5673T>A (p.Phe1891Leu) c.5676T>A (p.Phe1892Leu) n.1751T>A c.6897T>A (p.Phe2299Leu) c.6276T>A (p.Phe2092Leu) c.6996T>A (p.Phe2332Leu) c.7494T>A (p.Phe2498Leu) c.5091T>A (p.Phe1697Leu) | |
| 2 | g.237344522A>C | CA351202604 | COL6A3 | c.141T>G c.6878T>G (p.Phe2293Cys) c.7496T>G (p.Phe2499Cys) c.5672T>G (p.Phe1891Cys) c.5675T>G (p.Phe1892Cys) n.1750T>G c.6896T>G (p.Phe2299Cys) c.6275T>G (p.Phe2092Cys) c.6995T>G (p.Phe2332Cys) c.7493T>G (p.Phe2498Cys) c.5090T>G (p.Phe1697Cys) | |
| 2 | g.237344522A>G | CA351202605 | COL6A3 | c.141T>C c.6878T>C (p.Phe2293Ser) c.7496T>C (p.Phe2499Ser) c.5672T>C (p.Phe1891Ser) c.5675T>C (p.Phe1892Ser) n.1750T>C c.6896T>C (p.Phe2299Ser) c.6275T>C (p.Phe2092Ser) c.6995T>C (p.Phe2332Ser) c.7493T>C (p.Phe2498Ser) c.5090T>C (p.Phe1697Ser) | |
| 2 | g.237344522A>T | CA351202611 | COL6A3 | c.141T>A c.6878T>A (p.Phe2293Tyr) c.7496T>A (p.Phe2499Tyr) c.5672T>A (p.Phe1891Tyr) c.5675T>A (p.Phe1892Tyr) n.1750T>A c.6896T>A (p.Phe2299Tyr) c.6275T>A (p.Phe2092Tyr) c.6995T>A (p.Phe2332Tyr) c.7493T>A (p.Phe2498Tyr) c.5090T>A (p.Phe1697Tyr) | gnomAD v4 |
| 2 | g.237344523A>C | CA351202615 | COL6A3 | c.140T>G c.6877T>G (p.Phe2293Val) c.7495T>G (p.Phe2499Val) c.5671T>G (p.Phe1891Val) c.5674T>G (p.Phe1892Val) n.1749T>G c.6895T>G (p.Phe2299Val) c.6274T>G (p.Phe2092Val) c.6994T>G (p.Phe2332Val) c.7492T>G (p.Phe2498Val) c.5089T>G (p.Phe1697Val) | |
| 2 | g.237344523A>G | CA351202617 | COL6A3 | c.140T>C c.6877T>C (p.Phe2293Leu) c.7495T>C (p.Phe2499Leu) c.5671T>C (p.Phe1891Leu) c.5674T>C (p.Phe1892Leu) n.1749T>C c.6895T>C (p.Phe2299Leu) c.6274T>C (p.Phe2092Leu) c.6994T>C (p.Phe2332Leu) c.7492T>C (p.Phe2498Leu) c.5089T>C (p.Phe1697Leu) | |
| 2 | g.237344523A>T | CA351202618 | COL6A3 | c.140T>A c.6877T>A (p.Phe2293Ile) c.7495T>A (p.Phe2499Ile) c.5671T>A (p.Phe1891Ile) c.5674T>A (p.Phe1892Ile) n.1749T>A c.6895T>A (p.Phe2299Ile) c.6274T>A (p.Phe2092Ile) c.6994T>A (p.Phe2332Ile) c.7492T>A (p.Phe2498Ile) c.5089T>A (p.Phe1697Ile) | |
| 2 | g.237344524T>A | CA431710415 | COL6A3 | c.139A>T c.6876A>T (p.Thr2292=) c.7494A>T (p.Thr2498=) c.5670A>T (p.Thr1890=) c.5673A>T (p.Thr1891=) n.1748A>T c.6894A>T (p.Thr2298=) c.6273A>T (p.Thr2091=) c.6993A>T (p.Thr2331=) c.7491A>T (p.Thr2497=) c.5088A>T (p.Thr1696=) | |
| 2 | g.237344524T>C | CA431710416 | COL6A3 | c.139A>G c.6876A>G (p.Thr2292=) c.7494A>G (p.Thr2498=) c.5670A>G (p.Thr1890=) c.5673A>G (p.Thr1891=) n.1748A>G c.6894A>G (p.Thr2298=) c.6273A>G (p.Thr2091=) c.6993A>G (p.Thr2331=) c.7491A>G (p.Thr2497=) c.5088A>G (p.Thr1696=) | gnomAD v4 |
| 2 | g.237344524T>G | CA431710417 | COL6A3 | c.139A>C c.6876A>C (p.Thr2292=) c.7494A>C (p.Thr2498=) c.5670A>C (p.Thr1890=) c.5673A>C (p.Thr1891=) n.1748A>C c.6894A>C (p.Thr2298=) c.6273A>C (p.Thr2091=) c.6993A>C (p.Thr2331=) c.7491A>C (p.Thr2497=) c.5088A>C (p.Thr1696=) | |
| 2 | g.237344525G>A | CA351202621 | COL6A3 | c.138C>T c.6875C>T (p.Thr2292Ile) c.7493C>T (p.Thr2498Ile) c.5669C>T (p.Thr1890Ile) c.5672C>T (p.Thr1891Ile) n.1747C>T c.6893C>T (p.Thr2298Ile) c.6272C>T (p.Thr2091Ile) c.6992C>T (p.Thr2331Ile) c.7490C>T (p.Thr2497Ile) c.5087C>T (p.Thr1696Ile) | gnomAD v4 |
| 2 | g.237344525G>C | CA351202627 | COL6A3 | c.138C>G c.6875C>G (p.Thr2292Arg) c.7493C>G (p.Thr2498Arg) c.5669C>G (p.Thr1890Arg) c.5672C>G (p.Thr1891Arg) n.1747C>G c.6893C>G (p.Thr2298Arg) c.6272C>G (p.Thr2091Arg) c.6992C>G (p.Thr2331Arg) c.7490C>G (p.Thr2497Arg) c.5087C>G (p.Thr1696Arg) | |
| 2 | g.237344525G>T | CA351202631 | COL6A3 | c.138C>A c.6875C>A (p.Thr2292Lys) c.7493C>A (p.Thr2498Lys) c.5669C>A (p.Thr1890Lys) c.5672C>A (p.Thr1891Lys) n.1747C>A c.6893C>A (p.Thr2298Lys) c.6272C>A (p.Thr2091Lys) c.6992C>A (p.Thr2331Lys) c.7490C>A (p.Thr2497Lys) c.5087C>A (p.Thr1696Lys) | |
| 2 | g.237344526T>A | CA351202634 | COL6A3 | c.137A>T c.6874A>T (p.Thr2292Ser) c.7492A>T (p.Thr2498Ser) c.5668A>T (p.Thr1890Ser) c.5671A>T (p.Thr1891Ser) n.1746A>T c.6892A>T (p.Thr2298Ser) c.6271A>T (p.Thr2091Ser) c.6991A>T (p.Thr2331Ser) c.7489A>T (p.Thr2497Ser) c.5086A>T (p.Thr1696Ser) | |
| 2 | g.237344526T>C | CA351202637 | COL6A3 | c.137A>G c.6874A>G (p.Thr2292Ala) c.7492A>G (p.Thr2498Ala) c.5668A>G (p.Thr1890Ala) c.5671A>G (p.Thr1891Ala) n.1746A>G c.6892A>G (p.Thr2298Ala) c.6271A>G (p.Thr2091Ala) c.6991A>G (p.Thr2331Ala) c.7489A>G (p.Thr2497Ala) c.5086A>G (p.Thr1696Ala) | |
| 2 | g.237344526T>G | CA351202639 | COL6A3 | c.137A>C c.6874A>C (p.Thr2292Pro) c.7492A>C (p.Thr2498Pro) c.5668A>C (p.Thr1890Pro) c.5671A>C (p.Thr1891Pro) n.1746A>C c.6892A>C (p.Thr2298Pro) c.6271A>C (p.Thr2091Pro) c.6991A>C (p.Thr2331Pro) c.7489A>C (p.Thr2497Pro) c.5086A>C (p.Thr1696Pro) | |
| 2 | g.237344527G>A | CA2187793 | COL6A3 | c.136C>T c.6873C>T (p.Asn2291=) c.7491C>T (p.Asn2497=) c.5667C>T (p.Asn1889=) c.5670C>T (p.Asn1890=) n.1745C>T c.6891C>T (p.Asn2297=) c.6270C>T (p.Asn2090=) c.6990C>T (p.Asn2330=) c.7488C>T (p.Asn2496=) c.5085C>T (p.Asn1695=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237344527G>C | CA351202647 | COL6A3 | c.136C>G c.6873C>G (p.Asn2291Lys) c.7491C>G (p.Asn2497Lys) c.5667C>G (p.Asn1889Lys) c.5670C>G (p.Asn1890Lys) n.1745C>G c.6891C>G (p.Asn2297Lys) c.6270C>G (p.Asn2090Lys) c.6990C>G (p.Asn2330Lys) c.7488C>G (p.Asn2496Lys) c.5085C>G (p.Asn1695Lys) | |
| 2 | g.237344527G= | CA1337610918 | COL6A3 | c.136C= c.6873C= (p.Asn2291=) c.7491C= (p.Asn2497=) c.5667C= (p.Asn1889=) c.5670C= (p.Asn1890=) n.1745C= c.6891C= (p.Asn2297=) c.6270C= (p.Asn2090=) c.6990C= (p.Asn2330=) c.7488C= (p.Asn2496=) c.5085C= (p.Asn1695=) | |
| 2 | g.237344527G>T | CA351202644 | COL6A3 | c.136C>A c.6873C>A (p.Asn2291Lys) c.7491C>A (p.Asn2497Lys) c.5667C>A (p.Asn1889Lys) c.5670C>A (p.Asn1890Lys) n.1745C>A c.6891C>A (p.Asn2297Lys) c.6270C>A (p.Asn2090Lys) c.6990C>A (p.Asn2330Lys) c.7488C>A (p.Asn2496Lys) c.5085C>A (p.Asn1695Lys) | |
| 2 | g.237344528T>A | CA351202648 | COL6A3 | c.135A>T c.6872A>T (p.Asn2291Ile) c.7490A>T (p.Asn2497Ile) c.5666A>T (p.Asn1889Ile) c.5669A>T (p.Asn1890Ile) n.1744A>T c.6890A>T (p.Asn2297Ile) c.6269A>T (p.Asn2090Ile) c.6989A>T (p.Asn2330Ile) c.7487A>T (p.Asn2496Ile) c.5084A>T (p.Asn1695Ile) | |
| 2 | g.237344528T>C | CA351202649 | COL6A3 | c.135A>G c.6872A>G (p.Asn2291Ser) c.7490A>G (p.Asn2497Ser) c.5666A>G (p.Asn1889Ser) c.5669A>G (p.Asn1890Ser) n.1744A>G c.6890A>G (p.Asn2297Ser) c.6269A>G (p.Asn2090Ser) c.6989A>G (p.Asn2330Ser) c.7487A>G (p.Asn2496Ser) c.5084A>G (p.Asn1695Ser) | |
| 2 | g.237344528T>G | CA351202651 | COL6A3 | c.135A>C c.6872A>C (p.Asn2291Thr) c.7490A>C (p.Asn2497Thr) c.5666A>C (p.Asn1889Thr) c.5669A>C (p.Asn1890Thr) n.1744A>C c.6890A>C (p.Asn2297Thr) c.6269A>C (p.Asn2090Thr) c.6989A>C (p.Asn2330Thr) c.7487A>C (p.Asn2496Thr) c.5084A>C (p.Asn1695Thr) | |
| 2 | g.237344529T>A | CA351202654 | COL6A3 | c.134A>T c.6871A>T (p.Asn2291Tyr) c.7489A>T (p.Asn2497Tyr) c.5665A>T (p.Asn1889Tyr) c.5668A>T (p.Asn1890Tyr) n.1743A>T c.6889A>T (p.Asn2297Tyr) c.6268A>T (p.Asn2090Tyr) c.6988A>T (p.Asn2330Tyr) c.7486A>T (p.Asn2496Tyr) c.5083A>T (p.Asn1695Tyr) | |
| 2 | g.237344529T>C | CA351202657 | COL6A3 | c.134A>G c.6871A>G (p.Asn2291Asp) c.7489A>G (p.Asn2497Asp) c.5665A>G (p.Asn1889Asp) c.5668A>G (p.Asn1890Asp) n.1743A>G c.6889A>G (p.Asn2297Asp) c.6268A>G (p.Asn2090Asp) c.6988A>G (p.Asn2330Asp) c.7486A>G (p.Asn2496Asp) c.5083A>G (p.Asn1695Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237344529T>G | CA351202660 | COL6A3 | c.134A>C c.6871A>C (p.Asn2291His) c.7489A>C (p.Asn2497His) c.5665A>C (p.Asn1889His) c.5668A>C (p.Asn1890His) n.1743A>C c.6889A>C (p.Asn2297His) c.6268A>C (p.Asn2090His) c.6988A>C (p.Asn2330His) c.7486A>C (p.Asn2496His) c.5083A>C (p.Asn1695His) | |
| 2 | g.237344529T= | CA1337610919 | COL6A3 | c.134A= c.6871A= (p.Asn2291=) c.7489A= (p.Asn2497=) c.5665A= (p.Asn1889=) c.5668A= (p.Asn1890=) n.1743A= c.6889A= (p.Asn2297=) c.6268A= (p.Asn2090=) c.6988A= (p.Asn2330=) c.7486A= (p.Asn2496=) c.5083A= (p.Asn1695=) | |
| 2 | g.237344530C>A | CA351202663 | COL6A3 | c.133G>T c.6870G>T (p.Arg2290Ser) c.7488G>T (p.Arg2496Ser) c.5664G>T (p.Arg1888Ser) c.5667G>T (p.Arg1889Ser) n.1742G>T c.6888G>T (p.Arg2296Ser) c.6267G>T (p.Arg2089Ser) c.6987G>T (p.Arg2329Ser) c.7485G>T (p.Arg2495Ser) c.5082G>T (p.Arg1694Ser) | dbSNP |
| 2 | g.237344530C= | CA1337610920 | COL6A3 | c.133G= c.6870G= (p.Arg2290=) c.7488G= (p.Arg2496=) c.5664G= (p.Arg1888=) c.5667G= (p.Arg1889=) n.1742G= c.6888G= (p.Arg2296=) c.6267G= (p.Arg2089=) c.6987G= (p.Arg2329=) c.7485G= (p.Arg2495=) c.5082G= (p.Arg1694=) |