Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165344869C>ACA16610183SCN2Ac.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
2g.165344869C=CA1304545568SCN2Ac.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=)
2g.165344869C>GCA349016337SCN2Ac.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)
2g.165344869C>TCA1940030SCN2Ac.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
2g.165344870C>ACA349016362SCN2Ac.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)
2g.165344870C=CA1304545569SCN2Ac.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=)
2g.165344870C>GCA349016361SCN2Ac.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)
2g.165344870C>TCA349016349SCN2Ac.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
2g.165344871T>ACA349016363SCN2Ac.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)
2g.165344871T>CCA349016364SCN2Ac.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)
2g.165344871T>GCA349016366SCN2Ac.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)
2g.165344872T>ACA429972659SCN2Ac.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=)
2g.165344872T>CCA429972660SCN2Ac.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=)
2g.165344872T>GCA429972661SCN2Ac.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=)
2g.165344873A>CCA349016372SCN2Ac.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)
2g.165344873A>GCA349016379SCN2Ac.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)
2g.165344873A>TCA349016381SCN2Ac.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)
2g.165344874C>ACA349016406SCN2Ac.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)
2g.165344874C>GCA349016403SCN2Ac.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)
2g.165344874C>TCA349016385SCN2Ac.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
2g.165344875T>ACA429972662SCN2Ac.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=)
2g.165344875T>CCA429972663SCN2Ac.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=)
2g.165344875T>GCA429972664SCN2Ac.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=)
2g.165344876G>ACA349016413SCN2Ac.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
2g.165344876G>CCA349016415SCN2Ac.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)
2g.165344876G>TCA349016418SCN2Ac.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)
2g.165344877T>ACA349016424SCN2Ac.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)
2g.165344877T>CCA349016427SCN2Ac.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)
2g.165344877T>GCA349016441SCN2Ac.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)
2g.165344878C>ACA429972665SCN2Ac.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=)
2g.165344878C=CA1304545570SCN2Ac.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=)
2g.165344878C>GCA429972666SCN2Ac.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=)
2g.165344878C>TCA429972667SCN2Ac.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
2g.165344879T>ACA349016444SCN2Ac.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)
2g.165344879T>CCA349016449SCN2Ac.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)
2g.165344879T>GCA349016445SCN2Ac.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)
2g.165344880T>ACA349016453SCN2Ac.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)
2g.165344880T>CCA349016454SCN2Ac.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
2g.165344880T>GCA349016455SCN2Ac.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)
2g.165344880T=CA1304545571SCN2Ac.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=)
2g.165344885_165344893delCA2573133617SCN2Ac.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
2g.165344881C>ACA349016456SCN2Ac.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)
2g.165344881C>GCA349016457SCN2Ac.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)
2g.165344881C>TCA429972668SCN2Ac.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=)
2g.165344882A=CA1304545572SCN2Ac.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=)
2g.165344882A>CCA349016460SCN2Ac.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)
2g.165344882A>GCA349016462SCN2Ac.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
2g.165344882A>TCA349016465SCN2Ac.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
2g.165344883T>ACA349016471SCN2Ac.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)
2g.165344883T>CCA349016473SCN2Ac.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)

Number of alleles fetched