| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237344416T>A | CA431710291 | COL6A3 | c.247A>T c.6984A>T (p.Ser2328=) c.7602A>T (p.Ser2534=) c.5778A>T (p.Ser1926=) c.5781A>T (p.Ser1927=) n.1856A>T c.7002A>T (p.Ser2334=) c.6381A>T (p.Ser2127=) c.7101A>T (p.Ser2367=) c.7599A>T (p.Ser2533=) c.5196A>T (p.Ser1732=) | |
| 2 | g.237344416T>C | CA431710289 | COL6A3 | c.247A>G c.6984A>G (p.Ser2328=) c.7602A>G (p.Ser2534=) c.5778A>G (p.Ser1926=) c.5781A>G (p.Ser1927=) n.1856A>G c.7002A>G (p.Ser2334=) c.6381A>G (p.Ser2127=) c.7101A>G (p.Ser2367=) c.7599A>G (p.Ser2533=) c.5196A>G (p.Ser1732=) | |
| 2 | g.237344416T>G | CA431710290 | COL6A3 | c.247A>C c.6984A>C (p.Ser2328=) c.7602A>C (p.Ser2534=) c.5778A>C (p.Ser1926=) c.5781A>C (p.Ser1927=) n.1856A>C c.7002A>C (p.Ser2334=) c.6381A>C (p.Ser2127=) c.7101A>C (p.Ser2367=) c.7599A>C (p.Ser2533=) c.5196A>C (p.Ser1732=) | |
| 2 | g.237344417G>A | CA351201851 | COL6A3 | c.246C>T c.6983C>T (p.Ser2328Leu) c.7601C>T (p.Ser2534Leu) c.5777C>T (p.Ser1926Leu) c.5780C>T (p.Ser1927Leu) n.1855C>T c.7001C>T (p.Ser2334Leu) c.6380C>T (p.Ser2127Leu) c.7100C>T (p.Ser2367Leu) c.7598C>T (p.Ser2533Leu) c.5195C>T (p.Ser1732Leu) | |
| 2 | g.237344417G>C | CA351201852 | COL6A3 | c.246C>G c.6983C>G (p.Ser2328Ter) c.7601C>G (p.Ser2534Ter) c.5777C>G (p.Ser1926Ter) c.5780C>G (p.Ser1927Ter) n.1855C>G c.7001C>G (p.Ser2334Ter) c.6380C>G (p.Ser2127Ter) c.7100C>G (p.Ser2367Ter) c.7598C>G (p.Ser2533Ter) c.5195C>G (p.Ser1732Ter) | |
| 2 | g.237344417G>T | CA351201855 | COL6A3 | c.246C>A c.6983C>A (p.Ser2328Ter) c.7601C>A (p.Ser2534Ter) c.5777C>A (p.Ser1926Ter) c.5780C>A (p.Ser1927Ter) n.1855C>A c.7001C>A (p.Ser2334Ter) c.6380C>A (p.Ser2127Ter) c.7100C>A (p.Ser2367Ter) c.7598C>A (p.Ser2533Ter) c.5195C>A (p.Ser1732Ter) | |
| 2 | g.237344420_237344421del | CA2663794524 | COL6A3 | c.245_246del c.6982_6983del (p.Ser2328ArgfsTer25) c.7600_7601del (p.Ser2534ArgfsTer25) c.5776_5777del (p.Ser1926ArgfsTer25) c.5779_5780del (p.Ser1927ArgfsTer25) n.1854_1855del c.7000_7001del (p.Ser2334ArgfsTer25) c.6379_6380del (p.Ser2127ArgfsTer25) c.7099_7100del (p.Ser2367ArgfsTer25) c.7597_7598del (p.Ser2533ArgfsTer25) c.5194_5195del (p.Ser1732ArgfsTer25) | gnomAD v4 |
| 2 | g.237344418A>C | CA351201861 | COL6A3 | c.245T>G c.6982T>G (p.Ser2328Ala) c.7600T>G (p.Ser2534Ala) c.5776T>G (p.Ser1926Ala) c.5779T>G (p.Ser1927Ala) n.1854T>G c.7000T>G (p.Ser2334Ala) c.6379T>G (p.Ser2127Ala) c.7099T>G (p.Ser2367Ala) c.7597T>G (p.Ser2533Ala) c.5194T>G (p.Ser1732Ala) | |
| 2 | g.237344418A>G | CA351201864 | COL6A3 | c.245T>C c.6982T>C (p.Ser2328Pro) c.7600T>C (p.Ser2534Pro) c.5776T>C (p.Ser1926Pro) c.5779T>C (p.Ser1927Pro) n.1854T>C c.7000T>C (p.Ser2334Pro) c.6379T>C (p.Ser2127Pro) c.7099T>C (p.Ser2367Pro) c.7597T>C (p.Ser2533Pro) c.5194T>C (p.Ser1732Pro) | |
| 2 | g.237344418A>T | CA351201865 | COL6A3 | c.245T>A c.6982T>A (p.Ser2328Thr) c.7600T>A (p.Ser2534Thr) c.5776T>A (p.Ser1926Thr) c.5779T>A (p.Ser1927Thr) n.1854T>A c.7000T>A (p.Ser2334Thr) c.6379T>A (p.Ser2127Thr) c.7099T>A (p.Ser2367Thr) c.7597T>A (p.Ser2533Thr) c.5194T>A (p.Ser1732Thr) | |
| 2 | g.237344419G>A | CA431710292 | COL6A3 | c.244C>T c.6981C>T (p.Leu2327=) c.7599C>T (p.Leu2533=) c.5775C>T (p.Leu1925=) c.5778C>T (p.Leu1926=) n.1853C>T c.6999C>T (p.Leu2333=) c.6378C>T (p.Leu2126=) c.7098C>T (p.Leu2366=) c.7596C>T (p.Leu2532=) c.5193C>T (p.Leu1731=) | gnomAD v4 |
| 2 | g.237344419G>C | CA431710293 | COL6A3 | c.244C>G c.6981C>G (p.Leu2327=) c.7599C>G (p.Leu2533=) c.5775C>G (p.Leu1925=) c.5778C>G (p.Leu1926=) n.1853C>G c.6999C>G (p.Leu2333=) c.6378C>G (p.Leu2126=) c.7098C>G (p.Leu2366=) c.7596C>G (p.Leu2532=) c.5193C>G (p.Leu1731=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237344419G= | CA1337610865 | COL6A3 | c.244C= c.6981C= (p.Leu2327=) c.7599C= (p.Leu2533=) c.5775C= (p.Leu1925=) c.5778C= (p.Leu1926=) n.1853C= c.6999C= (p.Leu2333=) c.6378C= (p.Leu2126=) c.7098C= (p.Leu2366=) c.7596C= (p.Leu2532=) c.5193C= (p.Leu1731=) | |
| 2 | g.237344419G>T | CA431710294 | COL6A3 | c.244C>A c.6981C>A (p.Leu2327=) c.7599C>A (p.Leu2533=) c.5775C>A (p.Leu1925=) c.5778C>A (p.Leu1926=) n.1853C>A c.6999C>A (p.Leu2333=) c.6378C>A (p.Leu2126=) c.7098C>A (p.Leu2366=) c.7596C>A (p.Leu2532=) c.5193C>A (p.Leu1731=) | |
| 2 | g.237344420A>C | CA351201871 | COL6A3 | c.243T>G c.6980T>G (p.Leu2327Arg) c.7598T>G (p.Leu2533Arg) c.5774T>G (p.Leu1925Arg) c.5777T>G (p.Leu1926Arg) n.1852T>G c.6998T>G (p.Leu2333Arg) c.6377T>G (p.Leu2126Arg) c.7097T>G (p.Leu2366Arg) c.7595T>G (p.Leu2532Arg) c.5192T>G (p.Leu1731Arg) | |
| 2 | g.237344420A>G | CA351201874 | COL6A3 | c.243T>C c.6980T>C (p.Leu2327Pro) c.7598T>C (p.Leu2533Pro) c.5774T>C (p.Leu1925Pro) c.5777T>C (p.Leu1926Pro) n.1852T>C c.6998T>C (p.Leu2333Pro) c.6377T>C (p.Leu2126Pro) c.7097T>C (p.Leu2366Pro) c.7595T>C (p.Leu2532Pro) c.5192T>C (p.Leu1731Pro) | |
| 2 | g.237344420A>T | CA351201875 | COL6A3 | c.243T>A c.6980T>A (p.Leu2327His) c.7598T>A (p.Leu2533His) c.5774T>A (p.Leu1925His) c.5777T>A (p.Leu1926His) n.1852T>A c.6998T>A (p.Leu2333His) c.6377T>A (p.Leu2126His) c.7097T>A (p.Leu2366His) c.7595T>A (p.Leu2532His) c.5192T>A (p.Leu1731His) | |
| 2 | g.237344421G>A | CA351201883 | COL6A3 | c.242C>T c.6979C>T (p.Leu2327Phe) c.7597C>T (p.Leu2533Phe) c.5773C>T (p.Leu1925Phe) c.5776C>T (p.Leu1926Phe) n.1851C>T c.6997C>T (p.Leu2333Phe) c.6376C>T (p.Leu2126Phe) c.7096C>T (p.Leu2366Phe) c.7594C>T (p.Leu2532Phe) c.5191C>T (p.Leu1731Phe) | |
| 2 | g.237344421G>C | CA351201878 | COL6A3 | c.242C>G c.6979C>G (p.Leu2327Val) c.7597C>G (p.Leu2533Val) c.5773C>G (p.Leu1925Val) c.5776C>G (p.Leu1926Val) n.1851C>G c.6997C>G (p.Leu2333Val) c.6376C>G (p.Leu2126Val) c.7096C>G (p.Leu2366Val) c.7594C>G (p.Leu2532Val) c.5191C>G (p.Leu1731Val) | |
| 2 | g.237344421G= | CA1337610866 | COL6A3 | c.242C= c.6979C= (p.Leu2327=) c.7597C= (p.Leu2533=) c.5773C= (p.Leu1925=) c.5776C= (p.Leu1926=) n.1851C= c.6997C= (p.Leu2333=) c.6376C= (p.Leu2126=) c.7096C= (p.Leu2366=) c.7594C= (p.Leu2532=) c.5191C= (p.Leu1731=) | |
| 2 | g.237344421G>T | CA351201876 | COL6A3 | c.242C>A c.6979C>A (p.Leu2327Ile) c.7597C>A (p.Leu2533Ile) c.5773C>A (p.Leu1925Ile) c.5776C>A (p.Leu1926Ile) n.1851C>A c.6997C>A (p.Leu2333Ile) c.6376C>A (p.Leu2126Ile) c.7096C>A (p.Leu2366Ile) c.7594C>A (p.Leu2532Ile) c.5191C>A (p.Leu1731Ile) | ClinVar dbSNP |
| 2 | g.237344422C>A | CA351201885 | COL6A3 | c.241G>T c.6978G>T (p.Lys2326Asn) c.7596G>T (p.Lys2532Asn) c.5772G>T (p.Lys1924Asn) c.5775G>T (p.Lys1925Asn) n.1850G>T c.6996G>T (p.Lys2332Asn) c.6375G>T (p.Lys2125Asn) c.7095G>T (p.Lys2365Asn) c.7593G>T (p.Lys2531Asn) c.5190G>T (p.Lys1730Asn) | |
| 2 | g.237344422C= | CA1337610867 | COL6A3 | c.241G= c.6978G= (p.Lys2326=) c.7596G= (p.Lys2532=) c.5772G= (p.Lys1924=) c.5775G= (p.Lys1925=) n.1850G= c.6996G= (p.Lys2332=) c.6375G= (p.Lys2125=) c.7095G= (p.Lys2365=) c.7593G= (p.Lys2531=) c.5190G= (p.Lys1730=) | |
| 2 | g.237344422C>G | CA351201887 | COL6A3 | c.241G>C c.6978G>C (p.Lys2326Asn) c.7596G>C (p.Lys2532Asn) c.5772G>C (p.Lys1924Asn) c.5775G>C (p.Lys1925Asn) n.1850G>C c.6996G>C (p.Lys2332Asn) c.6375G>C (p.Lys2125Asn) c.7095G>C (p.Lys2365Asn) c.7593G>C (p.Lys2531Asn) c.5190G>C (p.Lys1730Asn) | |
| 2 | g.237344422C>T | CA148036 | COL6A3 | c.241G>A c.6978G>A (p.Lys2326=) c.7596G>A (p.Lys2532=) c.5772G>A (p.Lys1924=) c.5775G>A (p.Lys1925=) n.1850G>A c.6996G>A (p.Lys2332=) c.6375G>A (p.Lys2125=) c.7095G>A (p.Lys2365=) c.7593G>A (p.Lys2531=) c.5190G>A (p.Lys1730=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237344422_237344436del | CA2663794527 | COL6A3 | c.227_241del c.6964_6978del (p.Glu2322_Lys2326del) c.7582_7596del (p.Glu2528_Lys2532del) c.5758_5772del (p.Glu1920_Lys1924del) c.5761_5775del (p.Glu1921_Lys1925del) n.1836_1850del c.6982_6996del (p.Glu2328_Lys2332del) c.6361_6375del (p.Glu2121_Lys2125del) c.7081_7095del (p.Glu2361_Lys2365del) c.7579_7593del (p.Glu2527_Lys2531del) c.5176_5190del (p.Glu1726_Lys1730del) | gnomAD v4 |
| 2 | g.237344423T>A | CA351201892 | COL6A3 | c.240A>T c.6977A>T (p.Lys2326Met) c.7595A>T (p.Lys2532Met) c.5771A>T (p.Lys1924Met) c.5774A>T (p.Lys1925Met) n.1849A>T c.6995A>T (p.Lys2332Met) c.6374A>T (p.Lys2125Met) c.7094A>T (p.Lys2365Met) c.7592A>T (p.Lys2531Met) c.5189A>T (p.Lys1730Met) | |
| 2 | g.237344423T>C | CA351201896 | COL6A3 | c.240A>G c.6977A>G (p.Lys2326Arg) c.7595A>G (p.Lys2532Arg) c.5771A>G (p.Lys1924Arg) c.5774A>G (p.Lys1925Arg) n.1849A>G c.6995A>G (p.Lys2332Arg) c.6374A>G (p.Lys2125Arg) c.7094A>G (p.Lys2365Arg) c.7592A>G (p.Lys2531Arg) c.5189A>G (p.Lys1730Arg) | ClinVar |
| 2 | g.237344423T>G | CA351201898 | COL6A3 | c.240A>C c.6977A>C (p.Lys2326Thr) c.7595A>C (p.Lys2532Thr) c.5771A>C (p.Lys1924Thr) c.5774A>C (p.Lys1925Thr) n.1849A>C c.6995A>C (p.Lys2332Thr) c.6374A>C (p.Lys2125Thr) c.7094A>C (p.Lys2365Thr) c.7592A>C (p.Lys2531Thr) c.5189A>C (p.Lys1730Thr) | |
| 2 | g.237344424T>A | CA351201902 | COL6A3 | c.239A>T c.6976A>T (p.Lys2326Ter) c.7594A>T (p.Lys2532Ter) c.5770A>T (p.Lys1924Ter) c.5773A>T (p.Lys1925Ter) n.1848A>T c.6994A>T (p.Lys2332Ter) c.6373A>T (p.Lys2125Ter) c.7093A>T (p.Lys2365Ter) c.7591A>T (p.Lys2531Ter) c.5188A>T (p.Lys1730Ter) | |
| 2 | g.237344424T>C | CA351201918 | COL6A3 | c.239A>G c.6976A>G (p.Lys2326Glu) c.7594A>G (p.Lys2532Glu) c.5770A>G (p.Lys1924Glu) c.5773A>G (p.Lys1925Glu) n.1848A>G c.6994A>G (p.Lys2332Glu) c.6373A>G (p.Lys2125Glu) c.7093A>G (p.Lys2365Glu) c.7591A>G (p.Lys2531Glu) c.5188A>G (p.Lys1730Glu) | |
| 2 | g.237344424T>G | CA2187769 | COL6A3 | c.239A>C c.6976A>C (p.Lys2326Gln) c.7594A>C (p.Lys2532Gln) c.5770A>C (p.Lys1924Gln) c.5773A>C (p.Lys1925Gln) n.1848A>C c.6994A>C (p.Lys2332Gln) c.6373A>C (p.Lys2125Gln) c.7093A>C (p.Lys2365Gln) c.7591A>C (p.Lys2531Gln) c.5188A>C (p.Lys1730Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237344424T= | CA1337610868 | COL6A3 | c.239A= c.6976A= (p.Lys2326=) c.7594A= (p.Lys2532=) c.5770A= (p.Lys1924=) c.5773A= (p.Lys1925=) n.1848A= c.6994A= (p.Lys2332=) c.6373A= (p.Lys2125=) c.7093A= (p.Lys2365=) c.7591A= (p.Lys2531=) c.5188A= (p.Lys1730=) | |
| 2 | g.237344425G>A | CA2187770 | COL6A3 | c.238C>T c.6975C>T (p.Leu2325=) c.7593C>T (p.Leu2531=) c.5769C>T (p.Leu1923=) c.5772C>T (p.Leu1924=) n.1847C>T c.6993C>T (p.Leu2331=) c.6372C>T (p.Leu2124=) c.7092C>T (p.Leu2364=) c.7590C>T (p.Leu2530=) c.5187C>T (p.Leu1729=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237344425G>C | CA431710296 | COL6A3 | c.238C>G c.6975C>G (p.Leu2325=) c.7593C>G (p.Leu2531=) c.5769C>G (p.Leu1923=) c.5772C>G (p.Leu1924=) n.1847C>G c.6993C>G (p.Leu2331=) c.6372C>G (p.Leu2124=) c.7092C>G (p.Leu2364=) c.7590C>G (p.Leu2530=) c.5187C>G (p.Leu1729=) | |
| 2 | g.237344425G= | CA1337610869 | COL6A3 | c.238C= c.6975C= (p.Leu2325=) c.7593C= (p.Leu2531=) c.5769C= (p.Leu1923=) c.5772C= (p.Leu1924=) n.1847C= c.6993C= (p.Leu2331=) c.6372C= (p.Leu2124=) c.7092C= (p.Leu2364=) c.7590C= (p.Leu2530=) c.5187C= (p.Leu1729=) | |
| 2 | g.237344425G>T | CA431710295 | COL6A3 | c.238C>A c.6975C>A (p.Leu2325=) c.7593C>A (p.Leu2531=) c.5769C>A (p.Leu1923=) c.5772C>A (p.Leu1924=) n.1847C>A c.6993C>A (p.Leu2331=) c.6372C>A (p.Leu2124=) c.7092C>A (p.Leu2364=) c.7590C>A (p.Leu2530=) c.5187C>A (p.Leu1729=) | |
| 2 | g.237344426A>C | CA351201925 | COL6A3 | c.237T>G c.6974T>G (p.Leu2325Arg) c.7592T>G (p.Leu2531Arg) c.5768T>G (p.Leu1923Arg) c.5771T>G (p.Leu1924Arg) n.1846T>G c.6992T>G (p.Leu2331Arg) c.6371T>G (p.Leu2124Arg) c.7091T>G (p.Leu2364Arg) c.7589T>G (p.Leu2530Arg) c.5186T>G (p.Leu1729Arg) | |
| 2 | g.237344426A>G | CA351201928 | COL6A3 | c.237T>C c.6974T>C (p.Leu2325Pro) c.7592T>C (p.Leu2531Pro) c.5768T>C (p.Leu1923Pro) c.5771T>C (p.Leu1924Pro) n.1846T>C c.6992T>C (p.Leu2331Pro) c.6371T>C (p.Leu2124Pro) c.7091T>C (p.Leu2364Pro) c.7589T>C (p.Leu2530Pro) c.5186T>C (p.Leu1729Pro) | |
| 2 | g.237344426A>T | CA351201930 | COL6A3 | c.237T>A c.6974T>A (p.Leu2325His) c.7592T>A (p.Leu2531His) c.5768T>A (p.Leu1923His) c.5771T>A (p.Leu1924His) n.1846T>A c.6992T>A (p.Leu2331His) c.6371T>A (p.Leu2124His) c.7091T>A (p.Leu2364His) c.7589T>A (p.Leu2530His) c.5186T>A (p.Leu1729His) | |
| 2 | g.237344427G>A | CA351201934 | COL6A3 | c.236C>T c.6973C>T (p.Leu2325Phe) c.7591C>T (p.Leu2531Phe) c.5767C>T (p.Leu1923Phe) c.5770C>T (p.Leu1924Phe) n.1845C>T c.6991C>T (p.Leu2331Phe) c.6370C>T (p.Leu2124Phe) c.7090C>T (p.Leu2364Phe) c.7588C>T (p.Leu2530Phe) c.5185C>T (p.Leu1729Phe) | |
| 2 | g.237344427G>C | CA67839061 | COL6A3 | c.236C>G c.6973C>G (p.Leu2325Val) c.7591C>G (p.Leu2531Val) c.5767C>G (p.Leu1923Val) c.5770C>G (p.Leu1924Val) n.1845C>G c.6991C>G (p.Leu2331Val) c.6370C>G (p.Leu2124Val) c.7090C>G (p.Leu2364Val) c.7588C>G (p.Leu2530Val) c.5185C>G (p.Leu1729Val) | dbSNP |
| 2 | g.237344427G= | CA1337610870 | COL6A3 | c.236C= c.6973C= (p.Leu2325=) c.7591C= (p.Leu2531=) c.5767C= (p.Leu1923=) c.5770C= (p.Leu1924=) n.1845C= c.6991C= (p.Leu2331=) c.6370C= (p.Leu2124=) c.7090C= (p.Leu2364=) c.7588C= (p.Leu2530=) c.5185C= (p.Leu1729=) | |
| 2 | g.237344427G>T | CA351201933 | COL6A3 | c.236C>A c.6973C>A (p.Leu2325Ile) c.7591C>A (p.Leu2531Ile) c.5767C>A (p.Leu1923Ile) c.5770C>A (p.Leu1924Ile) n.1845C>A c.6991C>A (p.Leu2331Ile) c.6370C>A (p.Leu2124Ile) c.7090C>A (p.Leu2364Ile) c.7588C>A (p.Leu2530Ile) c.5185C>A (p.Leu1729Ile) | |
| 2 | g.237344428C>A | CA431710297 | COL6A3 | c.235G>T c.6972G>T (p.Val2324=) c.7590G>T (p.Val2530=) c.5766G>T (p.Val1922=) c.5769G>T (p.Val1923=) n.1844G>T c.6990G>T (p.Val2330=) c.6369G>T (p.Val2123=) c.7089G>T (p.Val2363=) c.7587G>T (p.Val2529=) c.5184G>T (p.Val1728=) | |
| 2 | g.237344428C= | CA1337610871 | COL6A3 | c.235G= c.6972G= (p.Val2324=) c.7590G= (p.Val2530=) c.5766G= (p.Val1922=) c.5769G= (p.Val1923=) n.1844G= c.6990G= (p.Val2330=) c.6369G= (p.Val2123=) c.7089G= (p.Val2363=) c.7587G= (p.Val2529=) c.5184G= (p.Val1728=) | |
| 2 | g.237344428C>G | CA431710298 | COL6A3 | c.235G>C c.6972G>C (p.Val2324=) c.7590G>C (p.Val2530=) c.5766G>C (p.Val1922=) c.5769G>C (p.Val1923=) n.1844G>C c.6990G>C (p.Val2330=) c.6369G>C (p.Val2123=) c.7089G>C (p.Val2363=) c.7587G>C (p.Val2529=) c.5184G>C (p.Val1728=) | |
| 2 | g.237344428C>T | CA2187771 | COL6A3 | c.235G>A c.6972G>A (p.Val2324=) c.7590G>A (p.Val2530=) c.5766G>A (p.Val1922=) c.5769G>A (p.Val1923=) n.1844G>A c.6990G>A (p.Val2330=) c.6369G>A (p.Val2123=) c.7089G>A (p.Val2363=) c.7587G>A (p.Val2529=) c.5184G>A (p.Val1728=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.237344429A= | CA1337610872 | COL6A3 | c.234T= c.6971T= (p.Val2324=) c.7589T= (p.Val2530=) c.5765T= (p.Val1922=) c.5768T= (p.Val1923=) n.1843T= c.6989T= (p.Val2330=) c.6368T= (p.Val2123=) c.7088T= (p.Val2363=) c.7586T= (p.Val2529=) c.5183T= (p.Val1728=) | |
| 2 | g.237344429A>C | CA351201946 | COL6A3 | c.234T>G c.6971T>G (p.Val2324Gly) c.7589T>G (p.Val2530Gly) c.5765T>G (p.Val1922Gly) c.5768T>G (p.Val1923Gly) n.1843T>G c.6989T>G (p.Val2330Gly) c.6368T>G (p.Val2123Gly) c.7088T>G (p.Val2363Gly) c.7586T>G (p.Val2529Gly) c.5183T>G (p.Val1728Gly) | dbSNP |