| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23898967C>A | CA402046891 | LAMA3 | c.911C>A (p.Ser304Tyr) c.5738C>A (p.Ser1913Tyr) c.2630C>A (p.Ser877Tyr) n.126C>A c.516C>A n.316C>A c.5765C>A (p.Ser1922Tyr) c.5756C>A (p.Ser1919Tyr) c.5747C>A (p.Ser1916Tyr) c.5633C>A (p.Ser1878Tyr) c.3617C>A (p.Ser1206Tyr) c.1307C>A (p.Ser436Tyr) n.6006C>A | |
| 18 | g.23898967C>G | CA402046892 | LAMA3 | c.911C>G (p.Ser304Cys) c.5738C>G (p.Ser1913Cys) c.2630C>G (p.Ser877Cys) n.126C>G c.516C>G n.316C>G c.5765C>G (p.Ser1922Cys) c.5756C>G (p.Ser1919Cys) c.5747C>G (p.Ser1916Cys) c.5633C>G (p.Ser1878Cys) c.3617C>G (p.Ser1206Cys) c.1307C>G (p.Ser436Cys) n.6006C>G | |
| 18 | g.23898967C>T | CA402046894 | LAMA3 | c.911C>T (p.Ser304Phe) c.5738C>T (p.Ser1913Phe) c.2630C>T (p.Ser877Phe) n.126C>T c.516C>T n.316C>T c.5765C>T (p.Ser1922Phe) c.5756C>T (p.Ser1919Phe) c.5747C>T (p.Ser1916Phe) c.5633C>T (p.Ser1878Phe) c.3617C>T (p.Ser1206Phe) c.1307C>T (p.Ser436Phe) n.6006C>T | |
| 18 | g.23898968C>A | CA503522291 | LAMA3 | c.912C>A (p.Ser304=) c.5739C>A (p.Ser1913=) c.2631C>A (p.Ser877=) n.127C>A c.517C>A n.317C>A c.5766C>A (p.Ser1922=) c.5757C>A (p.Ser1919=) c.5748C>A (p.Ser1916=) c.5634C>A (p.Ser1878=) c.3618C>A (p.Ser1206=) c.1308C>A (p.Ser436=) n.6007C>A | |
| 18 | g.23898968C>G | CA503522292 | LAMA3 | c.912C>G (p.Ser304=) c.5739C>G (p.Ser1913=) c.2631C>G (p.Ser877=) n.127C>G c.517C>G n.317C>G c.5766C>G (p.Ser1922=) c.5757C>G (p.Ser1919=) c.5748C>G (p.Ser1916=) c.5634C>G (p.Ser1878=) c.3618C>G (p.Ser1206=) c.1308C>G (p.Ser436=) n.6007C>G | |
| 18 | g.23898968C>T | CA503522293 | LAMA3 | c.912C>T (p.Ser304=) c.5739C>T (p.Ser1913=) c.2631C>T (p.Ser877=) n.127C>T c.517C>T n.317C>T c.5766C>T (p.Ser1922=) c.5757C>T (p.Ser1919=) c.5748C>T (p.Ser1916=) c.5634C>T (p.Ser1878=) c.3618C>T (p.Ser1206=) c.1308C>T (p.Ser436=) n.6007C>T | |
| 18 | g.23898969A>C | CA503522294 | LAMA3 | c.913A>C (p.Arg305=) c.5740A>C (p.Arg1914=) c.2632A>C (p.Arg878=) n.128A>C c.518A>C n.318A>C c.5767A>C (p.Arg1923=) c.5758A>C (p.Arg1920=) c.5749A>C (p.Arg1917=) c.5635A>C (p.Arg1879=) c.3619A>C (p.Arg1207=) c.1309A>C (p.Arg437=) n.6008A>C | |
| 18 | g.23898969A>G | CA402046897 | LAMA3 | c.913A>G (p.Arg305Gly) c.5740A>G (p.Arg1914Gly) c.2632A>G (p.Arg878Gly) n.128A>G c.518A>G n.318A>G c.5767A>G (p.Arg1923Gly) c.5758A>G (p.Arg1920Gly) c.5749A>G (p.Arg1917Gly) c.5635A>G (p.Arg1879Gly) c.3619A>G (p.Arg1207Gly) c.1309A>G (p.Arg437Gly) n.6008A>G | |
| 18 | g.23898969A>T | CA402046898 | LAMA3 | c.913A>T (p.Arg305Ter) c.5740A>T (p.Arg1914Ter) c.2632A>T (p.Arg878Ter) n.128A>T c.518A>T n.318A>T c.5767A>T (p.Arg1923Ter) c.5758A>T (p.Arg1920Ter) c.5749A>T (p.Arg1917Ter) c.5635A>T (p.Arg1879Ter) c.3619A>T (p.Arg1207Ter) c.1309A>T (p.Arg437Ter) n.6008A>T | |
| 18 | g.23898970G>A | CA402046900 | LAMA3 | c.914G>A (p.Arg305Lys) c.5741G>A (p.Arg1914Lys) c.2633G>A (p.Arg878Lys) n.129G>A c.519G>A n.319G>A c.5768G>A (p.Arg1923Lys) c.5759G>A (p.Arg1920Lys) c.5750G>A (p.Arg1917Lys) c.5636G>A (p.Arg1879Lys) c.3620G>A (p.Arg1207Lys) c.1310G>A (p.Arg437Lys) n.6009G>A | |
| 18 | g.23898970G>C | CA402046902 | LAMA3 | c.914G>C (p.Arg305Thr) c.5741G>C (p.Arg1914Thr) c.2633G>C (p.Arg878Thr) n.129G>C c.519G>C n.319G>C c.5768G>C (p.Arg1923Thr) c.5759G>C (p.Arg1920Thr) c.5750G>C (p.Arg1917Thr) c.5636G>C (p.Arg1879Thr) c.3620G>C (p.Arg1207Thr) c.1310G>C (p.Arg437Thr) n.6009G>C | |
| 18 | g.23898970G>T | CA402046904 | LAMA3 | c.914G>T (p.Arg305Ile) c.5741G>T (p.Arg1914Ile) c.2633G>T (p.Arg878Ile) n.129G>T c.519G>T n.319G>T c.5768G>T (p.Arg1923Ile) c.5759G>T (p.Arg1920Ile) c.5750G>T (p.Arg1917Ile) c.5636G>T (p.Arg1879Ile) c.3620G>T (p.Arg1207Ile) c.1310G>T (p.Arg437Ile) n.6009G>T | |
| 18 | g.23898971A>C | CA402046905 | LAMA3 | c.915A>C (p.Arg305Ser) c.5742A>C (p.Arg1914Ser) c.2634A>C (p.Arg878Ser) n.130A>C c.520A>C n.320A>C c.5769A>C (p.Arg1923Ser) c.5760A>C (p.Arg1920Ser) c.5751A>C (p.Arg1917Ser) c.5637A>C (p.Arg1879Ser) c.3621A>C (p.Arg1207Ser) c.1311A>C (p.Arg437Ser) n.6010A>C | |
| 18 | g.23898971A>G | CA503522295 | LAMA3 | c.915A>G (p.Arg305=) c.5742A>G (p.Arg1914=) c.2634A>G (p.Arg878=) n.130A>G c.520A>G n.320A>G c.5769A>G (p.Arg1923=) c.5760A>G (p.Arg1920=) c.5751A>G (p.Arg1917=) c.5637A>G (p.Arg1879=) c.3621A>G (p.Arg1207=) c.1311A>G (p.Arg437=) n.6010A>G | |
| 18 | g.23898971A>T | CA402046906 | LAMA3 | c.915A>T (p.Arg305Ser) c.5742A>T (p.Arg1914Ser) c.2634A>T (p.Arg878Ser) n.130A>T c.520A>T n.320A>T c.5769A>T (p.Arg1923Ser) c.5760A>T (p.Arg1920Ser) c.5751A>T (p.Arg1917Ser) c.5637A>T (p.Arg1879Ser) c.3621A>T (p.Arg1207Ser) c.1311A>T (p.Arg437Ser) n.6010A>T | |
| 18 | g.23898972A>C | CA402046909 | LAMA3 | c.916A>C (p.Lys306Gln) c.5743A>C (p.Lys1915Gln) c.2635A>C (p.Lys879Gln) n.131A>C c.521A>C n.321A>C c.5770A>C (p.Lys1924Gln) c.5761A>C (p.Lys1921Gln) c.5752A>C (p.Lys1918Gln) c.5638A>C (p.Lys1880Gln) c.3622A>C (p.Lys1208Gln) c.1312A>C (p.Lys438Gln) n.6011A>C | |
| 18 | g.23898972A>G | CA402046910 | LAMA3 | c.916A>G (p.Lys306Glu) c.5743A>G (p.Lys1915Glu) c.2635A>G (p.Lys879Glu) n.131A>G c.521A>G n.321A>G c.5770A>G (p.Lys1924Glu) c.5761A>G (p.Lys1921Glu) c.5752A>G (p.Lys1918Glu) c.5638A>G (p.Lys1880Glu) c.3622A>G (p.Lys1208Glu) c.1312A>G (p.Lys438Glu) n.6011A>G | |
| 18 | g.23898972A>T | CA402046912 | LAMA3 | c.916A>T (p.Lys306Ter) c.5743A>T (p.Lys1915Ter) c.2635A>T (p.Lys879Ter) n.131A>T c.521A>T n.321A>T c.5770A>T (p.Lys1924Ter) c.5761A>T (p.Lys1921Ter) c.5752A>T (p.Lys1918Ter) c.5638A>T (p.Lys1880Ter) c.3622A>T (p.Lys1208Ter) c.1312A>T (p.Lys438Ter) n.6011A>T | |
| 18 | g.23898973A= | CA2290322246 | LAMA3 | c.917A= (p.Lys306=) c.5744A= (p.Lys1915=) c.2636A= (p.Lys879=) n.132A= c.522A= n.322A= c.5771A= (p.Lys1924=) c.5762A= (p.Lys1921=) c.5753A= (p.Lys1918=) c.5639A= (p.Lys1880=) c.3623A= (p.Lys1208=) c.1313A= (p.Lys438=) n.6012A= | |
| 18 | g.23898973A>C | CA402046915 | LAMA3 | c.917A>C (p.Lys306Thr) c.5744A>C (p.Lys1915Thr) c.2636A>C (p.Lys879Thr) n.132A>C c.522A>C n.322A>C c.5771A>C (p.Lys1924Thr) c.5762A>C (p.Lys1921Thr) c.5753A>C (p.Lys1918Thr) c.5639A>C (p.Lys1880Thr) c.3623A>C (p.Lys1208Thr) c.1313A>C (p.Lys438Thr) n.6012A>C | |
| 18 | g.23898973A>G | CA402046916 | LAMA3 | c.917A>G (p.Lys306Arg) c.5744A>G (p.Lys1915Arg) c.2636A>G (p.Lys879Arg) n.132A>G c.522A>G n.322A>G c.5771A>G (p.Lys1924Arg) c.5762A>G (p.Lys1921Arg) c.5753A>G (p.Lys1918Arg) c.5639A>G (p.Lys1880Arg) c.3623A>G (p.Lys1208Arg) c.1313A>G (p.Lys438Arg) n.6012A>G | dbSNP gnomAD v4 |
| 18 | g.23898973A>T | CA402046918 | LAMA3 | c.917A>T (p.Lys306Ile) c.5744A>T (p.Lys1915Ile) c.2636A>T (p.Lys879Ile) n.132A>T c.522A>T n.322A>T c.5771A>T (p.Lys1924Ile) c.5762A>T (p.Lys1921Ile) c.5753A>T (p.Lys1918Ile) c.5639A>T (p.Lys1880Ile) c.3623A>T (p.Lys1208Ile) c.1313A>T (p.Lys438Ile) n.6012A>T | |
| 18 | g.23898974A>C | CA402046921 | LAMA3 | c.918A>C (p.Lys306Asn) c.5745A>C (p.Lys1915Asn) c.2637A>C (p.Lys879Asn) n.133A>C c.523A>C n.323A>C c.5772A>C (p.Lys1924Asn) c.5763A>C (p.Lys1921Asn) c.5754A>C (p.Lys1918Asn) c.5640A>C (p.Lys1880Asn) c.3624A>C (p.Lys1208Asn) c.1314A>C (p.Lys438Asn) n.6013A>C | |
| 18 | g.23898974A>G | CA503522296 | LAMA3 | c.918A>G (p.Lys306=) c.5745A>G (p.Lys1915=) c.2637A>G (p.Lys879=) n.133A>G c.523A>G n.323A>G c.5772A>G (p.Lys1924=) c.5763A>G (p.Lys1921=) c.5754A>G (p.Lys1918=) c.5640A>G (p.Lys1880=) c.3624A>G (p.Lys1208=) c.1314A>G (p.Lys438=) n.6013A>G | |
| 18 | g.23898974A>T | CA402046922 | LAMA3 | c.918A>T (p.Lys306Asn) c.5745A>T (p.Lys1915Asn) c.2637A>T (p.Lys879Asn) n.133A>T c.523A>T n.323A>T c.5772A>T (p.Lys1924Asn) c.5763A>T (p.Lys1921Asn) c.5754A>T (p.Lys1918Asn) c.5640A>T (p.Lys1880Asn) c.3624A>T (p.Lys1208Asn) c.1314A>T (p.Lys438Asn) n.6013A>T | |
| 18 | g.23898975G>A | CA402046924 | LAMA3 | c.919G>A (p.Ala307Thr) c.5746G>A (p.Ala1916Thr) c.2638G>A (p.Ala880Thr) n.134G>A c.524G>A n.324G>A c.5773G>A (p.Ala1925Thr) c.5764G>A (p.Ala1922Thr) c.5755G>A (p.Ala1919Thr) c.5641G>A (p.Ala1881Thr) c.3625G>A (p.Ala1209Thr) c.1315G>A (p.Ala439Thr) n.6014G>A | dbSNP |
| 18 | g.23898975G>C | CA402046926 | LAMA3 | c.919G>C (p.Ala307Pro) c.5746G>C (p.Ala1916Pro) c.2638G>C (p.Ala880Pro) n.134G>C c.524G>C n.324G>C c.5773G>C (p.Ala1925Pro) c.5764G>C (p.Ala1922Pro) c.5755G>C (p.Ala1919Pro) c.5641G>C (p.Ala1881Pro) c.3625G>C (p.Ala1209Pro) c.1315G>C (p.Ala439Pro) n.6014G>C | gnomAD v4 |
| 18 | g.23898975G= | CA2290322247 | LAMA3 | c.919G= (p.Ala307=) c.5746G= (p.Ala1916=) c.2638G= (p.Ala880=) n.134G= c.524G= n.324G= c.5773G= (p.Ala1925=) c.5764G= (p.Ala1922=) c.5755G= (p.Ala1919=) c.5641G= (p.Ala1881=) c.3625G= (p.Ala1209=) c.1315G= (p.Ala439=) n.6014G= | |
| 18 | g.23898975G>T | CA402046928 | LAMA3 | c.919G>T (p.Ala307Ser) c.5746G>T (p.Ala1916Ser) c.2638G>T (p.Ala880Ser) n.134G>T c.524G>T n.324G>T c.5773G>T (p.Ala1925Ser) c.5764G>T (p.Ala1922Ser) c.5755G>T (p.Ala1919Ser) c.5641G>T (p.Ala1881Ser) c.3625G>T (p.Ala1209Ser) c.1315G>T (p.Ala439Ser) n.6014G>T | |
| 18 | g.23898976C>A | CA402046931 | LAMA3 | c.920C>A (p.Ala307Glu) c.5747C>A (p.Ala1916Glu) c.2639C>A (p.Ala880Glu) n.135C>A c.525C>A n.325C>A c.5774C>A (p.Ala1925Glu) c.5765C>A (p.Ala1922Glu) c.5756C>A (p.Ala1919Glu) c.5642C>A (p.Ala1881Glu) c.3626C>A (p.Ala1209Glu) c.1316C>A (p.Ala439Glu) n.6015C>A | |
| 18 | g.23898976C>G | CA402046930 | LAMA3 | c.920C>G (p.Ala307Gly) c.5747C>G (p.Ala1916Gly) c.2639C>G (p.Ala880Gly) n.135C>G c.525C>G n.325C>G c.5774C>G (p.Ala1925Gly) c.5765C>G (p.Ala1922Gly) c.5756C>G (p.Ala1919Gly) c.5642C>G (p.Ala1881Gly) c.3626C>G (p.Ala1209Gly) c.1316C>G (p.Ala439Gly) n.6015C>G | |
| 18 | g.23898976C>T | CA402046929 | LAMA3 | c.920C>T (p.Ala307Val) c.5747C>T (p.Ala1916Val) c.2639C>T (p.Ala880Val) n.135C>T c.525C>T n.325C>T c.5774C>T (p.Ala1925Val) c.5765C>T (p.Ala1922Val) c.5756C>T (p.Ala1919Val) c.5642C>T (p.Ala1881Val) c.3626C>T (p.Ala1209Val) c.1316C>T (p.Ala439Val) n.6015C>T | |
| 18 | g.23898977A>C | CA503522298 | LAMA3 | c.921A>C (p.Ala307=) c.5748A>C (p.Ala1916=) c.2640A>C (p.Ala880=) n.136A>C c.526A>C n.326A>C c.5775A>C (p.Ala1925=) c.5766A>C (p.Ala1922=) c.5757A>C (p.Ala1919=) c.5643A>C (p.Ala1881=) c.3627A>C (p.Ala1209=) c.1317A>C (p.Ala439=) n.6016A>C | |
| 18 | g.23898977A>G | CA503522297 | LAMA3 | c.921A>G (p.Ala307=) c.5748A>G (p.Ala1916=) c.2640A>G (p.Ala880=) n.136A>G c.526A>G n.326A>G c.5775A>G (p.Ala1925=) c.5766A>G (p.Ala1922=) c.5757A>G (p.Ala1919=) c.5643A>G (p.Ala1881=) c.3627A>G (p.Ala1209=) c.1317A>G (p.Ala439=) n.6016A>G | |
| 18 | g.23898977A>T | CA503522299 | LAMA3 | c.921A>T (p.Ala307=) c.5748A>T (p.Ala1916=) c.2640A>T (p.Ala880=) n.136A>T c.526A>T n.326A>T c.5775A>T (p.Ala1925=) c.5766A>T (p.Ala1922=) c.5757A>T (p.Ala1919=) c.5643A>T (p.Ala1881=) c.3627A>T (p.Ala1209=) c.1317A>T (p.Ala439=) n.6016A>T | |
| 18 | g.23898978C>A | CA402046932 | LAMA3 | c.922C>A (p.Gln308Lys) c.5749C>A (p.Gln1917Lys) c.2641C>A (p.Gln881Lys) n.137C>A c.527C>A n.327C>A c.5776C>A (p.Gln1926Lys) c.5767C>A (p.Gln1923Lys) c.5758C>A (p.Gln1920Lys) c.5644C>A (p.Gln1882Lys) c.3628C>A (p.Gln1210Lys) c.1318C>A (p.Gln440Lys) n.6017C>A | |
| 18 | g.23898978C>G | CA402046934 | LAMA3 | c.922C>G (p.Gln308Glu) c.5749C>G (p.Gln1917Glu) c.2641C>G (p.Gln881Glu) n.137C>G c.527C>G n.327C>G c.5776C>G (p.Gln1926Glu) c.5767C>G (p.Gln1923Glu) c.5758C>G (p.Gln1920Glu) c.5644C>G (p.Gln1882Glu) c.3628C>G (p.Gln1210Glu) c.1318C>G (p.Gln440Glu) n.6017C>G | |
| 18 | g.23898978C>T | CA402046933 | LAMA3 | c.922C>T (p.Gln308Ter) c.5749C>T (p.Gln1917Ter) c.2641C>T (p.Gln881Ter) n.137C>T c.527C>T n.327C>T c.5776C>T (p.Gln1926Ter) c.5767C>T (p.Gln1923Ter) c.5758C>T (p.Gln1920Ter) c.5644C>T (p.Gln1882Ter) c.3628C>T (p.Gln1210Ter) c.1318C>T (p.Gln440Ter) n.6017C>T | |
| 18 | g.23898979A= | CA2290322248 | LAMA3 | c.923A= (p.Gln308=) c.5750A= (p.Gln1917=) c.2642A= (p.Gln881=) n.138A= c.528A= n.328A= c.5777A= (p.Gln1926=) c.5768A= (p.Gln1923=) c.5759A= (p.Gln1920=) c.5645A= (p.Gln1882=) c.3629A= (p.Gln1210=) c.1319A= (p.Gln440=) n.6018A= | |
| 18 | g.23898979A>C | CA8916161 | LAMA3 | c.923A>C (p.Gln308Pro) c.5750A>C (p.Gln1917Pro) c.2642A>C (p.Gln881Pro) n.138A>C c.528A>C n.328A>C c.5777A>C (p.Gln1926Pro) c.5768A>C (p.Gln1923Pro) c.5759A>C (p.Gln1920Pro) c.5645A>C (p.Gln1882Pro) c.3629A>C (p.Gln1210Pro) c.1319A>C (p.Gln440Pro) n.6018A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23898979A>G | CA402046936 | LAMA3 | c.923A>G (p.Gln308Arg) c.5750A>G (p.Gln1917Arg) c.2642A>G (p.Gln881Arg) n.138A>G c.528A>G n.328A>G c.5777A>G (p.Gln1926Arg) c.5768A>G (p.Gln1923Arg) c.5759A>G (p.Gln1920Arg) c.5645A>G (p.Gln1882Arg) c.3629A>G (p.Gln1210Arg) c.1319A>G (p.Gln440Arg) n.6018A>G | |
| 18 | g.23898979A>T | CA402046935 | LAMA3 | c.923A>T (p.Gln308Leu) c.5750A>T (p.Gln1917Leu) c.2642A>T (p.Gln881Leu) n.138A>T c.528A>T n.328A>T c.5777A>T (p.Gln1926Leu) c.5768A>T (p.Gln1923Leu) c.5759A>T (p.Gln1920Leu) c.5645A>T (p.Gln1882Leu) c.3629A>T (p.Gln1210Leu) c.1319A>T (p.Gln440Leu) n.6018A>T | |
| 18 | g.23898980A>C | CA402046937 | LAMA3 | c.924A>C (p.Gln308His) c.5751A>C (p.Gln1917His) c.2643A>C (p.Gln881His) n.139A>C c.529A>C n.329A>C c.5778A>C (p.Gln1926His) c.5769A>C (p.Gln1923His) c.5760A>C (p.Gln1920His) c.5646A>C (p.Gln1882His) c.3630A>C (p.Gln1210His) c.1320A>C (p.Gln440His) n.6019A>C | |
| 18 | g.23898980A>G | CA503522300 | LAMA3 | c.924A>G (p.Gln308=) c.5751A>G (p.Gln1917=) c.2643A>G (p.Gln881=) n.139A>G c.529A>G n.329A>G c.5778A>G (p.Gln1926=) c.5769A>G (p.Gln1923=) c.5760A>G (p.Gln1920=) c.5646A>G (p.Gln1882=) c.3630A>G (p.Gln1210=) c.1320A>G (p.Gln440=) n.6019A>G | |
| 18 | g.23898980A>T | CA402046938 | LAMA3 | c.924A>T (p.Gln308His) c.5751A>T (p.Gln1917His) c.2643A>T (p.Gln881His) n.139A>T c.529A>T n.329A>T c.5778A>T (p.Gln1926His) c.5769A>T (p.Gln1923His) c.5760A>T (p.Gln1920His) c.5646A>T (p.Gln1882His) c.3630A>T (p.Gln1210His) c.1320A>T (p.Gln440His) n.6019A>T | |
| 18 | g.23898981A= | CA2290322249 | LAMA3 | c.925A= (p.Thr309=) c.5752A= (p.Thr1918=) c.2644A= (p.Thr882=) n.140A= c.530A= n.330A= c.5779A= (p.Thr1927=) c.5770A= (p.Thr1924=) c.5761A= (p.Thr1921=) c.5647A= (p.Thr1883=) c.3631A= (p.Thr1211=) c.1321A= (p.Thr441=) n.6020A= | |
| 18 | g.23898981A>C | CA402046939 | LAMA3 | c.925A>C (p.Thr309Pro) c.5752A>C (p.Thr1918Pro) c.2644A>C (p.Thr882Pro) n.140A>C c.530A>C n.330A>C c.5779A>C (p.Thr1927Pro) c.5770A>C (p.Thr1924Pro) c.5761A>C (p.Thr1921Pro) c.5647A>C (p.Thr1883Pro) c.3631A>C (p.Thr1211Pro) c.1321A>C (p.Thr441Pro) n.6020A>C | |
| 18 | g.23898981A>G | CA402046940 | LAMA3 | c.925A>G (p.Thr309Ala) c.5752A>G (p.Thr1918Ala) c.2644A>G (p.Thr882Ala) n.140A>G c.530A>G n.330A>G c.5779A>G (p.Thr1927Ala) c.5770A>G (p.Thr1924Ala) c.5761A>G (p.Thr1921Ala) c.5647A>G (p.Thr1883Ala) c.3631A>G (p.Thr1211Ala) c.1321A>G (p.Thr441Ala) n.6020A>G | dbSNP gnomAD v4 |
| 18 | g.23898981A>T | CA402046941 | LAMA3 | c.925A>T (p.Thr309Ser) c.5752A>T (p.Thr1918Ser) c.2644A>T (p.Thr882Ser) n.140A>T c.530A>T n.330A>T c.5779A>T (p.Thr1927Ser) c.5770A>T (p.Thr1924Ser) c.5761A>T (p.Thr1921Ser) c.5647A>T (p.Thr1883Ser) c.3631A>T (p.Thr1211Ser) c.1321A>T (p.Thr441Ser) n.6020A>T | |
| 18 | g.23898982C>A | CA402046942 | LAMA3 | c.926C>A (p.Thr309Lys) c.5753C>A (p.Thr1918Lys) c.2645C>A (p.Thr882Lys) n.141C>A c.531C>A n.331C>A c.5780C>A (p.Thr1927Lys) c.5771C>A (p.Thr1924Lys) c.5762C>A (p.Thr1921Lys) c.5648C>A (p.Thr1883Lys) c.3632C>A (p.Thr1211Lys) c.1322C>A (p.Thr441Lys) n.6021C>A |