Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.165344869C>A | CA16610183 | SCN2A | c.2877C>A (p.Cys959Ter) c.*1196C>A (n.*1196C>A) c.*864C>A (n.*864C>A) c.*3400C>A (n.*3400C>A) c.*819C>A (n.*819C>A) c.2481C>A (p.Cys827Ter) c.315C>A (p.Cys105Ter) c.728C>A n.3020C>A c.2847C>A (p.Cys949Ter) c.2124C>A (p.Cys708Ter) c.675C>A (p.Cys225Ter) | ClinVar dbSNP |
2 | g.165344869C= | CA1304545568 | SCN2A | c.2877C= (p.Cys959=) c.*1196C= (n.*1196C=) c.*864C= (n.*864C=) c.*3400C= (n.*3400C=) c.*819C= (n.*819C=) c.2481C= (p.Cys827=) c.315C= (p.Cys105=) c.728C= n.3020C= c.2847C= (p.Cys949=) c.2124C= (p.Cys708=) c.675C= (p.Cys225=) | |
2 | g.165344869C>G | CA349016337 | SCN2A | c.2877C>G (p.Cys959Trp) c.*1196C>G (n.*1196C>G) c.*864C>G (n.*864C>G) c.*3400C>G (n.*3400C>G) c.*819C>G (n.*819C>G) c.2481C>G (p.Cys827Trp) c.315C>G (p.Cys105Trp) c.728C>G n.3020C>G c.2847C>G (p.Cys949Trp) c.2124C>G (p.Cys708Trp) c.675C>G (p.Cys225Trp) | |
2 | g.165344869C>T | CA1940030 | SCN2A | c.2877C>T (p.Cys959=) c.*1196C>T (n.*1196C>T) c.*864C>T (n.*864C>T) c.*3400C>T (n.*3400C>T) c.*819C>T (n.*819C>T) c.2481C>T (p.Cys827=) c.315C>T (p.Cys105=) c.728C>T n.3020C>T c.2847C>T (p.Cys949=) c.2124C>T (p.Cys708=) c.675C>T (p.Cys225=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165344870C>A | CA349016362 | SCN2A | c.2878C>A (p.Leu960Ile) c.*1197C>A (n.*1197C>A) c.*865C>A (n.*865C>A) c.*3401C>A (n.*3401C>A) c.*820C>A (n.*820C>A) c.2482C>A (p.Leu828Ile) c.316C>A (p.Leu106Ile) c.729C>A n.3021C>A c.2848C>A (p.Leu950Ile) c.2125C>A (p.Leu709Ile) c.676C>A (p.Leu226Ile) | |
2 | g.165344870C= | CA1304545569 | SCN2A | c.2878C= (p.Leu960=) c.*1197C= (n.*1197C=) c.*865C= (n.*865C=) c.*3401C= (n.*3401C=) c.*820C= (n.*820C=) c.2482C= (p.Leu828=) c.316C= (p.Leu106=) c.729C= n.3021C= c.2848C= (p.Leu950=) c.2125C= (p.Leu709=) c.676C= (p.Leu226=) | |
2 | g.165344870C>G | CA349016361 | SCN2A | c.2878C>G (p.Leu960Val) c.*1197C>G (n.*1197C>G) c.*865C>G (n.*865C>G) c.*3401C>G (n.*3401C>G) c.*820C>G (n.*820C>G) c.2482C>G (p.Leu828Val) c.316C>G (p.Leu106Val) c.729C>G n.3021C>G c.2848C>G (p.Leu950Val) c.2125C>G (p.Leu709Val) c.676C>G (p.Leu226Val) | |
2 | g.165344870C>T | CA349016349 | SCN2A | c.2878C>T (p.Leu960Phe) c.*1197C>T (n.*1197C>T) c.*865C>T (n.*865C>T) c.*3401C>T (n.*3401C>T) c.*820C>T (n.*820C>T) c.2482C>T (p.Leu828Phe) c.316C>T (p.Leu106Phe) c.729C>T n.3021C>T c.2848C>T (p.Leu950Phe) c.2125C>T (p.Leu709Phe) c.676C>T (p.Leu226Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165344871T>A | CA349016363 | SCN2A | c.2879T>A (p.Leu960His) c.*1198T>A (n.*1198T>A) c.*866T>A (n.*866T>A) c.*3402T>A (n.*3402T>A) c.*821T>A (n.*821T>A) c.2483T>A (p.Leu828His) c.317T>A (p.Leu106His) c.730T>A n.3022T>A c.2849T>A (p.Leu950His) c.2126T>A (p.Leu709His) c.677T>A (p.Leu226His) | |
2 | g.165344871T>C | CA349016364 | SCN2A | c.2879T>C (p.Leu960Pro) c.*1198T>C (n.*1198T>C) c.*866T>C (n.*866T>C) c.*3402T>C (n.*3402T>C) c.*821T>C (n.*821T>C) c.2483T>C (p.Leu828Pro) c.317T>C (p.Leu106Pro) c.730T>C n.3022T>C c.2849T>C (p.Leu950Pro) c.2126T>C (p.Leu709Pro) c.677T>C (p.Leu226Pro) | |
2 | g.165344871T>G | CA349016366 | SCN2A | c.2879T>G (p.Leu960Arg) c.*1198T>G (n.*1198T>G) c.*866T>G (n.*866T>G) c.*3402T>G (n.*3402T>G) c.*821T>G (n.*821T>G) c.2483T>G (p.Leu828Arg) c.317T>G (p.Leu106Arg) c.730T>G n.3022T>G c.2849T>G (p.Leu950Arg) c.2126T>G (p.Leu709Arg) c.677T>G (p.Leu226Arg) | |
2 | g.165344872T>A | CA429972659 | SCN2A | c.2880T>A (p.Leu960=) c.*1199T>A (n.*1199T>A) c.*867T>A (n.*867T>A) c.*3403T>A (n.*3403T>A) c.*822T>A (n.*822T>A) c.2484T>A (p.Leu828=) c.318T>A (p.Leu106=) c.731T>A n.3023T>A c.2850T>A (p.Leu950=) c.2127T>A (p.Leu709=) c.678T>A (p.Leu226=) | |
2 | g.165344872T>C | CA429972660 | SCN2A | c.2880T>C (p.Leu960=) c.*1199T>C (n.*1199T>C) c.*867T>C (n.*867T>C) c.*3403T>C (n.*3403T>C) c.*822T>C (n.*822T>C) c.2484T>C (p.Leu828=) c.318T>C (p.Leu106=) c.731T>C n.3023T>C c.2850T>C (p.Leu950=) c.2127T>C (p.Leu709=) c.678T>C (p.Leu226=) | |
2 | g.165344872T>G | CA429972661 | SCN2A | c.2880T>G (p.Leu960=) c.*1199T>G (n.*1199T>G) c.*867T>G (n.*867T>G) c.*3403T>G (n.*3403T>G) c.*822T>G (n.*822T>G) c.2484T>G (p.Leu828=) c.318T>G (p.Leu106=) c.731T>G n.3023T>G c.2850T>G (p.Leu950=) c.2127T>G (p.Leu709=) c.678T>G (p.Leu226=) | |
2 | g.165344873A>C | CA349016372 | SCN2A | c.2881A>C (p.Thr961Pro) c.*1200A>C (n.*1200A>C) c.*868A>C (n.*868A>C) c.*3404A>C (n.*3404A>C) c.*823A>C (n.*823A>C) c.2485A>C (p.Thr829Pro) c.319A>C (p.Thr107Pro) c.732A>C n.3024A>C c.2851A>C (p.Thr951Pro) c.2128A>C (p.Thr710Pro) c.679A>C (p.Thr227Pro) | |
2 | g.165344873A>G | CA349016379 | SCN2A | c.2881A>G (p.Thr961Ala) c.*1200A>G (n.*1200A>G) c.*868A>G (n.*868A>G) c.*3404A>G (n.*3404A>G) c.*823A>G (n.*823A>G) c.2485A>G (p.Thr829Ala) c.319A>G (p.Thr107Ala) c.732A>G n.3024A>G c.2851A>G (p.Thr951Ala) c.2128A>G (p.Thr710Ala) c.679A>G (p.Thr227Ala) | |
2 | g.165344873A>T | CA349016381 | SCN2A | c.2881A>T (p.Thr961Ser) c.*1200A>T (n.*1200A>T) c.*868A>T (n.*868A>T) c.*3404A>T (n.*3404A>T) c.*823A>T (n.*823A>T) c.2485A>T (p.Thr829Ser) c.319A>T (p.Thr107Ser) c.732A>T n.3024A>T c.2851A>T (p.Thr951Ser) c.2128A>T (p.Thr710Ser) c.679A>T (p.Thr227Ser) | |
2 | g.165344874C>A | CA349016406 | SCN2A | c.2882C>A (p.Thr961Asn) c.*1201C>A (n.*1201C>A) c.*869C>A (n.*869C>A) c.*3405C>A (n.*3405C>A) c.*824C>A (n.*824C>A) c.2486C>A (p.Thr829Asn) c.320C>A (p.Thr107Asn) c.733C>A n.3025C>A c.2852C>A (p.Thr951Asn) c.2129C>A (p.Thr710Asn) c.680C>A (p.Thr227Asn) | |
2 | g.165344874C>G | CA349016403 | SCN2A | c.2882C>G (p.Thr961Ser) c.*1201C>G (n.*1201C>G) c.*869C>G (n.*869C>G) c.*3405C>G (n.*3405C>G) c.*824C>G (n.*824C>G) c.2486C>G (p.Thr829Ser) c.320C>G (p.Thr107Ser) c.733C>G n.3025C>G c.2852C>G (p.Thr951Ser) c.2129C>G (p.Thr710Ser) c.680C>G (p.Thr227Ser) | |
2 | g.165344874C>T | CA349016385 | SCN2A | c.2882C>T (p.Thr961Ile) c.*1201C>T (n.*1201C>T) c.*869C>T (n.*869C>T) c.*3405C>T (n.*3405C>T) c.*824C>T (n.*824C>T) c.2486C>T (p.Thr829Ile) c.320C>T (p.Thr107Ile) c.733C>T n.3025C>T c.2852C>T (p.Thr951Ile) c.2129C>T (p.Thr710Ile) c.680C>T (p.Thr227Ile) | gnomAD v4 |
2 | g.165344875T>A | CA429972662 | SCN2A | c.2883T>A (p.Thr961=) c.*1202T>A (n.*1202T>A) c.*870T>A (n.*870T>A) c.*3406T>A (n.*3406T>A) c.*825T>A (n.*825T>A) c.2487T>A (p.Thr829=) c.321T>A (p.Thr107=) c.734T>A n.3026T>A c.2853T>A (p.Thr951=) c.2130T>A (p.Thr710=) c.681T>A (p.Thr227=) | |
2 | g.165344875T>C | CA429972663 | SCN2A | c.2883T>C (p.Thr961=) c.*1202T>C (n.*1202T>C) c.*870T>C (n.*870T>C) c.*3406T>C (n.*3406T>C) c.*825T>C (n.*825T>C) c.2487T>C (p.Thr829=) c.321T>C (p.Thr107=) c.734T>C n.3026T>C c.2853T>C (p.Thr951=) c.2130T>C (p.Thr710=) c.681T>C (p.Thr227=) | |
2 | g.165344875T>G | CA429972664 | SCN2A | c.2883T>G (p.Thr961=) c.*1202T>G (n.*1202T>G) c.*870T>G (n.*870T>G) c.*3406T>G (n.*3406T>G) c.*825T>G (n.*825T>G) c.2487T>G (p.Thr829=) c.321T>G (p.Thr107=) c.734T>G n.3026T>G c.2853T>G (p.Thr951=) c.2130T>G (p.Thr710=) c.681T>G (p.Thr227=) | |
2 | g.165344876G>A | CA349016413 | SCN2A | c.2884G>A (p.Val962Ile) c.*1203G>A (n.*1203G>A) c.*871G>A (n.*871G>A) c.*3407G>A (n.*3407G>A) c.*826G>A (n.*826G>A) c.2488G>A (p.Val830Ile) c.322G>A (p.Val108Ile) c.735G>A n.3027G>A c.2854G>A (p.Val952Ile) c.2131G>A (p.Val711Ile) c.682G>A (p.Val228Ile) | gnomAD v4 |
2 | g.165344876G>C | CA349016415 | SCN2A | c.2884G>C (p.Val962Leu) c.*1203G>C (n.*1203G>C) c.*871G>C (n.*871G>C) c.*3407G>C (n.*3407G>C) c.*826G>C (n.*826G>C) c.2488G>C (p.Val830Leu) c.322G>C (p.Val108Leu) c.735G>C n.3027G>C c.2854G>C (p.Val952Leu) c.2131G>C (p.Val711Leu) c.682G>C (p.Val228Leu) | |
2 | g.165344876G>T | CA349016418 | SCN2A | c.2884G>T (p.Val962Phe) c.*1203G>T (n.*1203G>T) c.*871G>T (n.*871G>T) c.*3407G>T (n.*3407G>T) c.*826G>T (n.*826G>T) c.2488G>T (p.Val830Phe) c.322G>T (p.Val108Phe) c.735G>T n.3027G>T c.2854G>T (p.Val952Phe) c.2131G>T (p.Val711Phe) c.682G>T (p.Val228Phe) | |
2 | g.165344877T>A | CA349016424 | SCN2A | c.2885T>A (p.Val962Asp) c.*1204T>A (n.*1204T>A) c.*872T>A (n.*872T>A) c.*3408T>A (n.*3408T>A) c.*827T>A (n.*827T>A) c.2489T>A (p.Val830Asp) c.323T>A (p.Val108Asp) c.736T>A n.3028T>A c.2855T>A (p.Val952Asp) c.2132T>A (p.Val711Asp) c.683T>A (p.Val228Asp) | |
2 | g.165344877T>C | CA349016427 | SCN2A | c.2885T>C (p.Val962Ala) c.*1204T>C (n.*1204T>C) c.*872T>C (n.*872T>C) c.*3408T>C (n.*3408T>C) c.*827T>C (n.*827T>C) c.2489T>C (p.Val830Ala) c.323T>C (p.Val108Ala) c.736T>C n.3028T>C c.2855T>C (p.Val952Ala) c.2132T>C (p.Val711Ala) c.683T>C (p.Val228Ala) | |
2 | g.165344877T>G | CA349016441 | SCN2A | c.2885T>G (p.Val962Gly) c.*1204T>G (n.*1204T>G) c.*872T>G (n.*872T>G) c.*3408T>G (n.*3408T>G) c.*827T>G (n.*827T>G) c.2489T>G (p.Val830Gly) c.323T>G (p.Val108Gly) c.736T>G n.3028T>G c.2855T>G (p.Val952Gly) c.2132T>G (p.Val711Gly) c.683T>G (p.Val228Gly) | |
2 | g.165344878C>A | CA429972665 | SCN2A | c.2886C>A (p.Val962=) c.*1205C>A (n.*1205C>A) c.*873C>A (n.*873C>A) c.*3409C>A (n.*3409C>A) c.*828C>A (n.*828C>A) c.2490C>A (p.Val830=) c.324C>A (p.Val108=) c.737C>A n.3029C>A c.2856C>A (p.Val952=) c.2133C>A (p.Val711=) c.684C>A (p.Val228=) | |
2 | g.165344878C= | CA1304545570 | SCN2A | c.2886C= (p.Val962=) c.*1205C= (n.*1205C=) c.*873C= (n.*873C=) c.*3409C= (n.*3409C=) c.*828C= (n.*828C=) c.2490C= (p.Val830=) c.324C= (p.Val108=) c.737C= n.3029C= c.2856C= (p.Val952=) c.2133C= (p.Val711=) c.684C= (p.Val228=) | |
2 | g.165344878C>G | CA429972666 | SCN2A | c.2886C>G (p.Val962=) c.*1205C>G (n.*1205C>G) c.*873C>G (n.*873C>G) c.*3409C>G (n.*3409C>G) c.*828C>G (n.*828C>G) c.2490C>G (p.Val830=) c.324C>G (p.Val108=) c.737C>G n.3029C>G c.2856C>G (p.Val952=) c.2133C>G (p.Val711=) c.684C>G (p.Val228=) | |
2 | g.165344878C>T | CA429972667 | SCN2A | c.2886C>T (p.Val962=) c.*1205C>T (n.*1205C>T) c.*873C>T (n.*873C>T) c.*3409C>T (n.*3409C>T) c.*828C>T (n.*828C>T) c.2490C>T (p.Val830=) c.324C>T (p.Val108=) c.737C>T n.3029C>T c.2856C>T (p.Val952=) c.2133C>T (p.Val711=) c.684C>T (p.Val228=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165344879T>A | CA349016444 | SCN2A | c.2887T>A (p.Phe963Ile) c.*1206T>A (n.*1206T>A) c.*874T>A (n.*874T>A) c.*3410T>A (n.*3410T>A) c.*829T>A (n.*829T>A) c.2491T>A (p.Phe831Ile) c.325T>A (p.Phe109Ile) c.738T>A n.3030T>A c.2857T>A (p.Phe953Ile) c.2134T>A (p.Phe712Ile) c.685T>A (p.Phe229Ile) | |
2 | g.165344879T>C | CA349016449 | SCN2A | c.2887T>C (p.Phe963Leu) c.*1206T>C (n.*1206T>C) c.*874T>C (n.*874T>C) c.*3410T>C (n.*3410T>C) c.*829T>C (n.*829T>C) c.2491T>C (p.Phe831Leu) c.325T>C (p.Phe109Leu) c.738T>C n.3030T>C c.2857T>C (p.Phe953Leu) c.2134T>C (p.Phe712Leu) c.685T>C (p.Phe229Leu) | |
2 | g.165344879T>G | CA349016445 | SCN2A | c.2887T>G (p.Phe963Val) c.*1206T>G (n.*1206T>G) c.*874T>G (n.*874T>G) c.*3410T>G (n.*3410T>G) c.*829T>G (n.*829T>G) c.2491T>G (p.Phe831Val) c.325T>G (p.Phe109Val) c.738T>G n.3030T>G c.2857T>G (p.Phe953Val) c.2134T>G (p.Phe712Val) c.685T>G (p.Phe229Val) | |
2 | g.165344880T>A | CA349016453 | SCN2A | c.2888T>A (p.Phe963Tyr) c.*1207T>A (n.*1207T>A) c.*875T>A (n.*875T>A) c.*3411T>A (n.*3411T>A) c.*830T>A (n.*830T>A) c.2492T>A (p.Phe831Tyr) c.326T>A (p.Phe109Tyr) c.739T>A n.3031T>A c.2858T>A (p.Phe953Tyr) c.2135T>A (p.Phe712Tyr) c.686T>A (p.Phe229Tyr) | |
2 | g.165344880T>C | CA349016454 | SCN2A | c.2888T>C (p.Phe963Ser) c.*1207T>C (n.*1207T>C) c.*875T>C (n.*875T>C) c.*3411T>C (n.*3411T>C) c.*830T>C (n.*830T>C) c.2492T>C (p.Phe831Ser) c.326T>C (p.Phe109Ser) c.739T>C n.3031T>C c.2858T>C (p.Phe953Ser) c.2135T>C (p.Phe712Ser) c.686T>C (p.Phe229Ser) | ClinVar dbSNP |
2 | g.165344880T>G | CA349016455 | SCN2A | c.2888T>G (p.Phe963Cys) c.*1207T>G (n.*1207T>G) c.*875T>G (n.*875T>G) c.*3411T>G (n.*3411T>G) c.*830T>G (n.*830T>G) c.2492T>G (p.Phe831Cys) c.326T>G (p.Phe109Cys) c.739T>G n.3031T>G c.2858T>G (p.Phe953Cys) c.2135T>G (p.Phe712Cys) c.686T>G (p.Phe229Cys) | |
2 | g.165344880T= | CA1304545571 | SCN2A | c.2888T= (p.Phe963=) c.*1207T= (n.*1207T=) c.*875T= (n.*875T=) c.*3411T= (n.*3411T=) c.*830T= (n.*830T=) c.2492T= (p.Phe831=) c.326T= (p.Phe109=) c.739T= n.3031T= c.2858T= (p.Phe953=) c.2135T= (p.Phe712=) c.686T= (p.Phe229=) | |
2 | g.165344885_165344893del | CA2573133617 | SCN2A | c.2893_2901del (p.Met965_Met967del) c.*1212_*1220del (n.*1212_*1220del) c.*880_*888del (n.*880_*888del) c.*3416_*3424del (n.*3416_*3424del) c.*835_*843del (n.*835_*843del) c.2497_2505del (p.Met833_Met835del) c.331_339del (p.Met111_Met113del) c.744_752del n.3036_3044del c.2863_2871del (p.Met955_Met957del) c.2140_2148del (p.Met714_Met716del) c.691_699del (p.Met231_Met233del) | ClinVar dbSNP |
2 | g.165344881C>A | CA349016456 | SCN2A | c.2889C>A (p.Phe963Leu) c.*1208C>A (n.*1208C>A) c.*876C>A (n.*876C>A) c.*3412C>A (n.*3412C>A) c.*831C>A (n.*831C>A) c.2493C>A (p.Phe831Leu) c.327C>A (p.Phe109Leu) c.740C>A n.3032C>A c.2859C>A (p.Phe953Leu) c.2136C>A (p.Phe712Leu) c.687C>A (p.Phe229Leu) | |
2 | g.165344881C>G | CA349016457 | SCN2A | c.2889C>G (p.Phe963Leu) c.*1208C>G (n.*1208C>G) c.*876C>G (n.*876C>G) c.*3412C>G (n.*3412C>G) c.*831C>G (n.*831C>G) c.2493C>G (p.Phe831Leu) c.327C>G (p.Phe109Leu) c.740C>G n.3032C>G c.2859C>G (p.Phe953Leu) c.2136C>G (p.Phe712Leu) c.687C>G (p.Phe229Leu) | |
2 | g.165344881C>T | CA429972668 | SCN2A | c.2889C>T (p.Phe963=) c.*1208C>T (n.*1208C>T) c.*876C>T (n.*876C>T) c.*3412C>T (n.*3412C>T) c.*831C>T (n.*831C>T) c.2493C>T (p.Phe831=) c.327C>T (p.Phe109=) c.740C>T n.3032C>T c.2859C>T (p.Phe953=) c.2136C>T (p.Phe712=) c.687C>T (p.Phe229=) | |
2 | g.165344882A= | CA1304545572 | SCN2A | c.2890A= (p.Met964=) c.*1209A= (n.*1209A=) c.*877A= (n.*877A=) c.*3413A= (n.*3413A=) c.*832A= (n.*832A=) c.2494A= (p.Met832=) c.328A= (p.Met110=) c.741A= n.3033A= c.2860A= (p.Met954=) c.2137A= (p.Met713=) c.688A= (p.Met230=) | |
2 | g.165344882A>C | CA349016460 | SCN2A | c.2890A>C (p.Met964Leu) c.*1209A>C (n.*1209A>C) c.*877A>C (n.*877A>C) c.*3413A>C (n.*3413A>C) c.*832A>C (n.*832A>C) c.2494A>C (p.Met832Leu) c.328A>C (p.Met110Leu) c.741A>C n.3033A>C c.2860A>C (p.Met954Leu) c.2137A>C (p.Met713Leu) c.688A>C (p.Met230Leu) | |
2 | g.165344882A>G | CA349016462 | SCN2A | c.2890A>G (p.Met964Val) c.*1209A>G (n.*1209A>G) c.*877A>G (n.*877A>G) c.*3413A>G (n.*3413A>G) c.*832A>G (n.*832A>G) c.2494A>G (p.Met832Val) c.328A>G (p.Met110Val) c.741A>G n.3033A>G c.2860A>G (p.Met954Val) c.2137A>G (p.Met713Val) c.688A>G (p.Met230Val) | gnomAD v4 COSMIC COSMIC |
2 | g.165344882A>T | CA349016465 | SCN2A | c.2890A>T (p.Met964Leu) c.*1209A>T (n.*1209A>T) c.*877A>T (n.*877A>T) c.*3413A>T (n.*3413A>T) c.*832A>T (n.*832A>T) c.2494A>T (p.Met832Leu) c.328A>T (p.Met110Leu) c.741A>T n.3033A>T c.2860A>T (p.Met954Leu) c.2137A>T (p.Met713Leu) c.688A>T (p.Met230Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165344883T>A | CA349016471 | SCN2A | c.2891T>A (p.Met964Lys) c.*1210T>A (n.*1210T>A) c.*878T>A (n.*878T>A) c.*3414T>A (n.*3414T>A) c.*833T>A (n.*833T>A) c.2495T>A (p.Met832Lys) c.329T>A (p.Met110Lys) c.742T>A n.3034T>A c.2861T>A (p.Met954Lys) c.2138T>A (p.Met713Lys) c.689T>A (p.Met230Lys) | |
2 | g.165344883T>C | CA349016473 | SCN2A | c.2891T>C (p.Met964Thr) c.*1210T>C (n.*1210T>C) c.*878T>C (n.*878T>C) c.*3414T>C (n.*3414T>C) c.*833T>C (n.*833T>C) c.2495T>C (p.Met832Thr) c.329T>C (p.Met110Thr) c.742T>C n.3034T>C c.2861T>C (p.Met954Thr) c.2138T>C (p.Met713Thr) c.689T>C (p.Met230Thr) |