Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.31773212_31774154delinsTGGTGA | CA2580100588 | DMD | c.2194_2388+748delinsTCACCA c.-33_162+748delinsTCACCA n.1009_1203+748delinsTCACCA n.931_1125+748delinsTCACCA n.840_1034+748delinsTCACCA c.7348_7542+748delinsTCACCA c.3316_3510+748delinsTCACCA c.337_531+748delinsTCACCA c.436_630+748delinsTCACCA c.7336_7530+748delinsTCACCA c.105_299+748delinsTCACCA c.7333_7527+748delinsTCACCA c.7345_7539+748delinsTCACCA c.7324_7518+748delinsTCACCA c.6979_7173+748delinsTCACCA c.3325_3519+748delinsTCACCA c.7219_7413+748delinsTCACCA c.7210_7404+748delinsTCACCA c.7225_7419+748delinsTCACCA c.1522_1716+748delinsTCACCA | ClinVar |
X | g.31774032A>C | CA412658865 | DMD | c.2316T>G (p.Asp772Glu) c.90T>G (p.Asp30Glu) n.1131T>G n.1053T>G n.962T>G c.7470T>G (p.Asp2490Glu) c.3438T>G (p.Asp1146Glu) c.459T>G (p.Asp153Glu) c.558T>G (p.Asp186Glu) c.7458T>G (p.Asp2486Glu) c.227T>G (n.227T>G) c.7455T>G (p.Asp2485Glu) c.7467T>G (p.Asp2489Glu) c.7446T>G (p.Asp2482Glu) c.7101T>G (p.Asp2367Glu) c.3447T>G (p.Asp1149Glu) c.7341T>G (p.Asp2447Glu) c.7332T>G (p.Asp2444Glu) c.7347T>G (p.Asp2449Glu) c.1644T>G (p.Asp548Glu) | |
X | g.31774032A>G | CA515859324 | DMD | c.2316T>C (p.Asp772=) c.90T>C (p.Asp30=) n.1131T>C n.1053T>C n.962T>C c.7470T>C (p.Asp2490=) c.3438T>C (p.Asp1146=) c.459T>C (p.Asp153=) c.558T>C (p.Asp186=) c.7458T>C (p.Asp2486=) c.227T>C (n.227T>C) c.7455T>C (p.Asp2485=) c.7467T>C (p.Asp2489=) c.7446T>C (p.Asp2482=) c.7101T>C (p.Asp2367=) c.3447T>C (p.Asp1149=) c.7341T>C (p.Asp2447=) c.7332T>C (p.Asp2444=) c.7347T>C (p.Asp2449=) c.1644T>C (p.Asp548=) | |
X | g.31774032A>T | CA412658866 | DMD | c.2316T>A (p.Asp772Glu) c.90T>A (p.Asp30Glu) n.1131T>A n.1053T>A n.962T>A c.7470T>A (p.Asp2490Glu) c.3438T>A (p.Asp1146Glu) c.459T>A (p.Asp153Glu) c.558T>A (p.Asp186Glu) c.7458T>A (p.Asp2486Glu) c.227T>A (n.227T>A) c.7455T>A (p.Asp2485Glu) c.7467T>A (p.Asp2489Glu) c.7446T>A (p.Asp2482Glu) c.7101T>A (p.Asp2367Glu) c.3447T>A (p.Asp1149Glu) c.7341T>A (p.Asp2447Glu) c.7332T>A (p.Asp2444Glu) c.7347T>A (p.Asp2449Glu) c.1644T>A (p.Asp548Glu) | |
X | g.31774032delinsTT | CA2695232439 | DMD | c.2316delinsAA (p.Asp772GlufsTer13) c.90delinsAA (p.Asp30GlufsTer13) n.1131delinsAA n.1053delinsAA n.962delinsAA c.7470delinsAA (p.Asp2490GlufsTer13) c.3438delinsAA (p.Asp1146GlufsTer13) c.459delinsAA (p.Asp153GlufsTer13) c.558delinsAA (p.Asp186GlufsTer13) c.7458delinsAA (p.Asp2486GlufsTer13) c.227delinsAA (n.227delinsAA) c.7455delinsAA (p.Asp2485GlufsTer13) c.7467delinsAA (p.Asp2489GlufsTer13) c.7446delinsAA (p.Asp2482GlufsTer13) c.7101delinsAA (p.Asp2367GlufsTer13) c.3447delinsAA (p.Asp1149GlufsTer13) c.7341delinsAA (p.Asp2447GlufsTer13) c.7332delinsAA (p.Asp2444GlufsTer13) c.7347delinsAA (p.Asp2449GlufsTer13) c.1644delinsAA (p.Asp548GlufsTer13) | |
X | g.31774033T>A | CA328470491 | DMD | c.2315A>T (p.Asp772Val) c.89A>T (p.Asp30Val) n.1130A>T n.1052A>T n.961A>T c.7469A>T (p.Asp2490Val) c.3437A>T (p.Asp1146Val) c.458A>T (p.Asp153Val) c.557A>T (p.Asp186Val) c.7457A>T (p.Asp2486Val) c.226A>T (n.226A>T) c.7454A>T (p.Asp2485Val) c.7466A>T (p.Asp2489Val) c.7445A>T (p.Asp2482Val) c.7100A>T (p.Asp2367Val) c.3446A>T (p.Asp1149Val) c.7340A>T (p.Asp2447Val) c.7331A>T (p.Asp2444Val) c.7346A>T (p.Asp2449Val) c.1643A>T (p.Asp548Val) | dbSNP |
X | g.31774033T>C | CA412658867 | DMD | c.2315A>G (p.Asp772Gly) c.89A>G (p.Asp30Gly) n.1130A>G n.1052A>G n.961A>G c.7469A>G (p.Asp2490Gly) c.3437A>G (p.Asp1146Gly) c.458A>G (p.Asp153Gly) c.557A>G (p.Asp186Gly) c.7457A>G (p.Asp2486Gly) c.226A>G (n.226A>G) c.7454A>G (p.Asp2485Gly) c.7466A>G (p.Asp2489Gly) c.7445A>G (p.Asp2482Gly) c.7100A>G (p.Asp2367Gly) c.3446A>G (p.Asp1149Gly) c.7340A>G (p.Asp2447Gly) c.7331A>G (p.Asp2444Gly) c.7346A>G (p.Asp2449Gly) c.1643A>G (p.Asp548Gly) | dbSNP |
X | g.31774033T>G | CA412658868 | DMD | c.2315A>C (p.Asp772Ala) c.89A>C (p.Asp30Ala) n.1130A>C n.1052A>C n.961A>C c.7469A>C (p.Asp2490Ala) c.3437A>C (p.Asp1146Ala) c.458A>C (p.Asp153Ala) c.557A>C (p.Asp186Ala) c.7457A>C (p.Asp2486Ala) c.226A>C (n.226A>C) c.7454A>C (p.Asp2485Ala) c.7466A>C (p.Asp2489Ala) c.7445A>C (p.Asp2482Ala) c.7100A>C (p.Asp2367Ala) c.3446A>C (p.Asp1149Ala) c.7340A>C (p.Asp2447Ala) c.7331A>C (p.Asp2444Ala) c.7346A>C (p.Asp2449Ala) c.1643A>C (p.Asp548Ala) | |
X | g.31774033T= | CA2422548631 | DMD | c.2315A= (p.Asp772=) c.89A= (p.Asp30=) n.1130A= n.1052A= n.961A= c.7469A= (p.Asp2490=) c.3437A= (p.Asp1146=) c.458A= (p.Asp153=) c.557A= (p.Asp186=) c.7457A= (p.Asp2486=) c.226A= (n.226A=) c.7454A= (p.Asp2485=) c.7466A= (p.Asp2489=) c.7445A= (p.Asp2482=) c.7100A= (p.Asp2367=) c.3446A= (p.Asp1149=) c.7340A= (p.Asp2447=) c.7331A= (p.Asp2444=) c.7346A= (p.Asp2449=) c.1643A= (p.Asp548=) | |
X | g.31774034C>A | CA10378271 | DMD | c.2314G>T (p.Asp772Tyr) c.88G>T (p.Asp30Tyr) n.1129G>T n.1051G>T n.960G>T c.7468G>T (p.Asp2490Tyr) c.3436G>T (p.Asp1146Tyr) c.457G>T (p.Asp153Tyr) c.556G>T (p.Asp186Tyr) c.7456G>T (p.Asp2486Tyr) c.225G>T (n.225G>T) c.7453G>T (p.Asp2485Tyr) c.7465G>T (p.Asp2489Tyr) c.7444G>T (p.Asp2482Tyr) c.7099G>T (p.Asp2367Tyr) c.3445G>T (p.Asp1149Tyr) c.7339G>T (p.Asp2447Tyr) c.7330G>T (p.Asp2444Tyr) c.7345G>T (p.Asp2449Tyr) c.1642G>T (p.Asp548Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31774034C= | CA2422548632 | DMD | c.2314G= (p.Asp772=) c.88G= (p.Asp30=) n.1129G= n.1051G= n.960G= c.7468G= (p.Asp2490=) c.3436G= (p.Asp1146=) c.457G= (p.Asp153=) c.556G= (p.Asp186=) c.7456G= (p.Asp2486=) c.225G= (n.225G=) c.7453G= (p.Asp2485=) c.7465G= (p.Asp2489=) c.7444G= (p.Asp2482=) c.7099G= (p.Asp2367=) c.3445G= (p.Asp1149=) c.7339G= (p.Asp2447=) c.7330G= (p.Asp2444=) c.7345G= (p.Asp2449=) c.1642G= (p.Asp548=) | |
X | g.31774034C>G | CA412658869 | DMD | c.2314G>C (p.Asp772His) c.88G>C (p.Asp30His) n.1129G>C n.1051G>C n.960G>C c.7468G>C (p.Asp2490His) c.3436G>C (p.Asp1146His) c.457G>C (p.Asp153His) c.556G>C (p.Asp186His) c.7456G>C (p.Asp2486His) c.225G>C (n.225G>C) c.7453G>C (p.Asp2485His) c.7465G>C (p.Asp2489His) c.7444G>C (p.Asp2482His) c.7099G>C (p.Asp2367His) c.3445G>C (p.Asp1149His) c.7339G>C (p.Asp2447His) c.7330G>C (p.Asp2444His) c.7345G>C (p.Asp2449His) c.1642G>C (p.Asp548His) | |
X | g.31774034C>T | CA412658870 | DMD | c.2314G>A (p.Asp772Asn) c.88G>A (p.Asp30Asn) n.1129G>A n.1051G>A n.960G>A c.7468G>A (p.Asp2490Asn) c.3436G>A (p.Asp1146Asn) c.457G>A (p.Asp153Asn) c.556G>A (p.Asp186Asn) c.7456G>A (p.Asp2486Asn) c.225G>A (n.225G>A) c.7453G>A (p.Asp2485Asn) c.7465G>A (p.Asp2489Asn) c.7444G>A (p.Asp2482Asn) c.7099G>A (p.Asp2367Asn) c.3445G>A (p.Asp1149Asn) c.7339G>A (p.Asp2447Asn) c.7330G>A (p.Asp2444Asn) c.7345G>A (p.Asp2449Asn) c.1642G>A (p.Asp548Asn) | COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774035A>C | CA515859325 | DMD | c.2313T>G (p.Leu771=) c.87T>G (p.Leu29=) n.1128T>G n.1050T>G n.959T>G c.7467T>G (p.Leu2489=) c.3435T>G (p.Leu1145=) c.456T>G (p.Leu152=) c.555T>G (p.Leu185=) c.7455T>G (p.Leu2485=) c.224T>G (n.224T>G) c.7452T>G (p.Leu2484=) c.7464T>G (p.Leu2488=) c.7443T>G (p.Leu2481=) c.7098T>G (p.Leu2366=) c.3444T>G (p.Leu1148=) c.7338T>G (p.Leu2446=) c.7329T>G (p.Leu2443=) c.7344T>G (p.Leu2448=) c.1641T>G (p.Leu547=) | ClinVar |
X | g.31774035A>G | CA515859326 | DMD | c.2313T>C (p.Leu771=) c.87T>C (p.Leu29=) n.1128T>C n.1050T>C n.959T>C c.7467T>C (p.Leu2489=) c.3435T>C (p.Leu1145=) c.456T>C (p.Leu152=) c.555T>C (p.Leu185=) c.7455T>C (p.Leu2485=) c.224T>C (n.224T>C) c.7452T>C (p.Leu2484=) c.7464T>C (p.Leu2488=) c.7443T>C (p.Leu2481=) c.7098T>C (p.Leu2366=) c.3444T>C (p.Leu1148=) c.7338T>C (p.Leu2446=) c.7329T>C (p.Leu2443=) c.7344T>C (p.Leu2448=) c.1641T>C (p.Leu547=) | |
X | g.31774035A>T | CA515859327 | DMD | c.2313T>A (p.Leu771=) c.87T>A (p.Leu29=) n.1128T>A n.1050T>A n.959T>A c.7467T>A (p.Leu2489=) c.3435T>A (p.Leu1145=) c.456T>A (p.Leu152=) c.555T>A (p.Leu185=) c.7455T>A (p.Leu2485=) c.224T>A (n.224T>A) c.7452T>A (p.Leu2484=) c.7464T>A (p.Leu2488=) c.7443T>A (p.Leu2481=) c.7098T>A (p.Leu2366=) c.3444T>A (p.Leu1148=) c.7338T>A (p.Leu2446=) c.7329T>A (p.Leu2443=) c.7344T>A (p.Leu2448=) c.1641T>A (p.Leu547=) | |
X | g.31774036del | CA2695232441 | DMD | c.2313del (p.Asp772IlefsTer4) c.87del (p.Asp30IlefsTer4) n.1128del n.1050del n.959del c.7467del (p.Asp2490IlefsTer4) c.3435del (p.Asp1146IlefsTer4) c.456del (p.Asp153IlefsTer4) c.555del (p.Asp186IlefsTer4) c.7455del (p.Asp2486IlefsTer4) c.224del (n.224del) c.7452del (p.Asp2485IlefsTer4) c.7464del (p.Asp2489IlefsTer4) c.7443del (p.Asp2482IlefsTer4) c.7098del (p.Asp2367IlefsTer4) c.3444del (p.Asp1149IlefsTer4) c.7338del (p.Asp2447IlefsTer4) c.7329del (p.Asp2444IlefsTer4) c.7344del (p.Asp2449IlefsTer4) c.1641del (p.Asp548IlefsTer4) | |
X | g.31774036A>C | CA412658871 | DMD | c.2312T>G (p.Leu771Arg) c.86T>G (p.Leu29Arg) n.1127T>G n.1049T>G n.958T>G c.7466T>G (p.Leu2489Arg) c.3434T>G (p.Leu1145Arg) c.455T>G (p.Leu152Arg) c.554T>G (p.Leu185Arg) c.7454T>G (p.Leu2485Arg) c.223T>G (n.223T>G) c.7451T>G (p.Leu2484Arg) c.7463T>G (p.Leu2488Arg) c.7442T>G (p.Leu2481Arg) c.7097T>G (p.Leu2366Arg) c.3443T>G (p.Leu1148Arg) c.7337T>G (p.Leu2446Arg) c.7328T>G (p.Leu2443Arg) c.7343T>G (p.Leu2448Arg) c.1640T>G (p.Leu547Arg) | |
X | g.31774036A>G | CA412658872 | DMD | c.2312T>C (p.Leu771Pro) c.86T>C (p.Leu29Pro) n.1127T>C n.1049T>C n.958T>C c.7466T>C (p.Leu2489Pro) c.3434T>C (p.Leu1145Pro) c.455T>C (p.Leu152Pro) c.554T>C (p.Leu185Pro) c.7454T>C (p.Leu2485Pro) c.223T>C (n.223T>C) c.7451T>C (p.Leu2484Pro) c.7463T>C (p.Leu2488Pro) c.7442T>C (p.Leu2481Pro) c.7097T>C (p.Leu2366Pro) c.3443T>C (p.Leu1148Pro) c.7337T>C (p.Leu2446Pro) c.7328T>C (p.Leu2443Pro) c.7343T>C (p.Leu2448Pro) c.1640T>C (p.Leu547Pro) | |
X | g.31774036A>T | CA412658873 | DMD | c.2312T>A (p.Leu771His) c.86T>A (p.Leu29His) n.1127T>A n.1049T>A n.958T>A c.7466T>A (p.Leu2489His) c.3434T>A (p.Leu1145His) c.455T>A (p.Leu152His) c.554T>A (p.Leu185His) c.7454T>A (p.Leu2485His) c.223T>A (n.223T>A) c.7451T>A (p.Leu2484His) c.7463T>A (p.Leu2488His) c.7442T>A (p.Leu2481His) c.7097T>A (p.Leu2366His) c.3443T>A (p.Leu1148His) c.7337T>A (p.Leu2446His) c.7328T>A (p.Leu2443His) c.7343T>A (p.Leu2448His) c.1640T>A (p.Leu547His) | |
X | g.31774037G>A | CA412658874 | DMD | c.2311C>T (p.Leu771Phe) c.85C>T (p.Leu29Phe) n.1126C>T n.1048C>T n.957C>T c.7465C>T (p.Leu2489Phe) c.3433C>T (p.Leu1145Phe) c.454C>T (p.Leu152Phe) c.553C>T (p.Leu185Phe) c.7453C>T (p.Leu2485Phe) c.222C>T (n.222C>T) c.7450C>T (p.Leu2484Phe) c.7462C>T (p.Leu2488Phe) c.7441C>T (p.Leu2481Phe) c.7096C>T (p.Leu2366Phe) c.3442C>T (p.Leu1148Phe) c.7336C>T (p.Leu2446Phe) c.7327C>T (p.Leu2443Phe) c.7342C>T (p.Leu2448Phe) c.1639C>T (p.Leu547Phe) | |
X | g.31774037G>C | CA412658875 | DMD | c.2311C>G (p.Leu771Val) c.85C>G (p.Leu29Val) n.1126C>G n.1048C>G n.957C>G c.7465C>G (p.Leu2489Val) c.3433C>G (p.Leu1145Val) c.454C>G (p.Leu152Val) c.553C>G (p.Leu185Val) c.7453C>G (p.Leu2485Val) c.222C>G (n.222C>G) c.7450C>G (p.Leu2484Val) c.7462C>G (p.Leu2488Val) c.7441C>G (p.Leu2481Val) c.7096C>G (p.Leu2366Val) c.3442C>G (p.Leu1148Val) c.7336C>G (p.Leu2446Val) c.7327C>G (p.Leu2443Val) c.7342C>G (p.Leu2448Val) c.1639C>G (p.Leu547Val) | |
X | g.31774037G>T | CA412658876 | DMD | c.2311C>A (p.Leu771Ile) c.85C>A (p.Leu29Ile) n.1126C>A n.1048C>A n.957C>A c.7465C>A (p.Leu2489Ile) c.3433C>A (p.Leu1145Ile) c.454C>A (p.Leu152Ile) c.553C>A (p.Leu185Ile) c.7453C>A (p.Leu2485Ile) c.222C>A (n.222C>A) c.7450C>A (p.Leu2484Ile) c.7462C>A (p.Leu2488Ile) c.7441C>A (p.Leu2481Ile) c.7096C>A (p.Leu2366Ile) c.3442C>A (p.Leu1148Ile) c.7336C>A (p.Leu2446Ile) c.7327C>A (p.Leu2443Ile) c.7342C>A (p.Leu2448Ile) c.1639C>A (p.Leu547Ile) | |
X | g.31774038C>A | CA515859328 | DMD | c.2310G>T (p.Leu770=) c.84G>T (p.Leu28=) n.1125G>T n.1047G>T n.956G>T c.7464G>T (p.Leu2488=) c.3432G>T (p.Leu1144=) c.453G>T (p.Leu151=) c.552G>T (p.Leu184=) c.7452G>T (p.Leu2484=) c.221G>T (n.221G>T) c.7449G>T (p.Leu2483=) c.7461G>T (p.Leu2487=) c.7440G>T (p.Leu2480=) c.7095G>T (p.Leu2365=) c.3441G>T (p.Leu1147=) c.7335G>T (p.Leu2445=) c.7326G>T (p.Leu2442=) c.7341G>T (p.Leu2447=) c.1638G>T (p.Leu546=) | |
X | g.31774038C= | CA2422548633 | DMD | c.2310G= (p.Leu770=) c.84G= (p.Leu28=) n.1125G= n.1047G= n.956G= c.7464G= (p.Leu2488=) c.3432G= (p.Leu1144=) c.453G= (p.Leu151=) c.552G= (p.Leu184=) c.7452G= (p.Leu2484=) c.221G= (n.221G=) c.7449G= (p.Leu2483=) c.7461G= (p.Leu2487=) c.7440G= (p.Leu2480=) c.7095G= (p.Leu2365=) c.3441G= (p.Leu1147=) c.7335G= (p.Leu2445=) c.7326G= (p.Leu2442=) c.7341G= (p.Leu2447=) c.1638G= (p.Leu546=) | |
X | g.31774038C>G | CA515859329 | DMD | c.2310G>C (p.Leu770=) c.84G>C (p.Leu28=) n.1125G>C n.1047G>C n.956G>C c.7464G>C (p.Leu2488=) c.3432G>C (p.Leu1144=) c.453G>C (p.Leu151=) c.552G>C (p.Leu184=) c.7452G>C (p.Leu2484=) c.221G>C (n.221G>C) c.7449G>C (p.Leu2483=) c.7461G>C (p.Leu2487=) c.7440G>C (p.Leu2480=) c.7095G>C (p.Leu2365=) c.3441G>C (p.Leu1147=) c.7335G>C (p.Leu2445=) c.7326G>C (p.Leu2442=) c.7341G>C (p.Leu2447=) c.1638G>C (p.Leu546=) | |
X | g.31774038C>T | CA515859330 | DMD | c.2310G>A (p.Leu770=) c.84G>A (p.Leu28=) n.1125G>A n.1047G>A n.956G>A c.7464G>A (p.Leu2488=) c.3432G>A (p.Leu1144=) c.453G>A (p.Leu151=) c.552G>A (p.Leu184=) c.7452G>A (p.Leu2484=) c.221G>A (n.221G>A) c.7449G>A (p.Leu2483=) c.7461G>A (p.Leu2487=) c.7440G>A (p.Leu2480=) c.7095G>A (p.Leu2365=) c.3441G>A (p.Leu1147=) c.7335G>A (p.Leu2445=) c.7326G>A (p.Leu2442=) c.7341G>A (p.Leu2447=) c.1638G>A (p.Leu546=) | ClinVar dbSNP gnomAD v4 |
X | g.31774039A>C | CA412658877 | DMD | c.2309T>G (p.Leu770Arg) c.83T>G (p.Leu28Arg) n.1124T>G n.1046T>G n.955T>G c.7463T>G (p.Leu2488Arg) c.3431T>G (p.Leu1144Arg) c.452T>G (p.Leu151Arg) c.551T>G (p.Leu184Arg) c.7451T>G (p.Leu2484Arg) c.220T>G (n.220T>G) c.7448T>G (p.Leu2483Arg) c.7460T>G (p.Leu2487Arg) c.7439T>G (p.Leu2480Arg) c.7094T>G (p.Leu2365Arg) c.3440T>G (p.Leu1147Arg) c.7334T>G (p.Leu2445Arg) c.7325T>G (p.Leu2442Arg) c.7340T>G (p.Leu2447Arg) c.1637T>G (p.Leu546Arg) | |
X | g.31774039A>G | CA412658878 | DMD | c.2309T>C (p.Leu770Pro) c.83T>C (p.Leu28Pro) n.1124T>C n.1046T>C n.955T>C c.7463T>C (p.Leu2488Pro) c.3431T>C (p.Leu1144Pro) c.452T>C (p.Leu151Pro) c.551T>C (p.Leu184Pro) c.7451T>C (p.Leu2484Pro) c.220T>C (n.220T>C) c.7448T>C (p.Leu2483Pro) c.7460T>C (p.Leu2487Pro) c.7439T>C (p.Leu2480Pro) c.7094T>C (p.Leu2365Pro) c.3440T>C (p.Leu1147Pro) c.7334T>C (p.Leu2445Pro) c.7325T>C (p.Leu2442Pro) c.7340T>C (p.Leu2447Pro) c.1637T>C (p.Leu546Pro) | |
X | g.31774039A>T | CA412658879 | DMD | c.2309T>A (p.Leu770Gln) c.83T>A (p.Leu28Gln) n.1124T>A n.1046T>A n.955T>A c.7463T>A (p.Leu2488Gln) c.3431T>A (p.Leu1144Gln) c.452T>A (p.Leu151Gln) c.551T>A (p.Leu184Gln) c.7451T>A (p.Leu2484Gln) c.220T>A (n.220T>A) c.7448T>A (p.Leu2483Gln) c.7460T>A (p.Leu2487Gln) c.7439T>A (p.Leu2480Gln) c.7094T>A (p.Leu2365Gln) c.3440T>A (p.Leu1147Gln) c.7334T>A (p.Leu2445Gln) c.7325T>A (p.Leu2442Gln) c.7340T>A (p.Leu2447Gln) c.1637T>A (p.Leu546Gln) | |
X | g.31774040G>A | CA515859331 | DMD | c.2308C>T (p.Leu770=) c.82C>T (p.Leu28=) n.1123C>T n.1045C>T n.954C>T c.7462C>T (p.Leu2488=) c.3430C>T (p.Leu1144=) c.451C>T (p.Leu151=) c.550C>T (p.Leu184=) c.7450C>T (p.Leu2484=) c.219C>T (n.219C>T) c.7447C>T (p.Leu2483=) c.7459C>T (p.Leu2487=) c.7438C>T (p.Leu2480=) c.7093C>T (p.Leu2365=) c.3439C>T (p.Leu1147=) c.7333C>T (p.Leu2445=) c.7324C>T (p.Leu2442=) c.7339C>T (p.Leu2447=) c.1636C>T (p.Leu546=) | ClinVar dbSNP |
X | g.31774040G>C | CA412658880 | DMD | c.2308C>G (p.Leu770Val) c.82C>G (p.Leu28Val) n.1123C>G n.1045C>G n.954C>G c.7462C>G (p.Leu2488Val) c.3430C>G (p.Leu1144Val) c.451C>G (p.Leu151Val) c.550C>G (p.Leu184Val) c.7450C>G (p.Leu2484Val) c.219C>G (n.219C>G) c.7447C>G (p.Leu2483Val) c.7459C>G (p.Leu2487Val) c.7438C>G (p.Leu2480Val) c.7093C>G (p.Leu2365Val) c.3439C>G (p.Leu1147Val) c.7333C>G (p.Leu2445Val) c.7324C>G (p.Leu2442Val) c.7339C>G (p.Leu2447Val) c.1636C>G (p.Leu546Val) | |
X | g.31774040G>T | CA412658881 | DMD | c.2308C>A (p.Leu770Met) c.82C>A (p.Leu28Met) n.1123C>A n.1045C>A n.954C>A c.7462C>A (p.Leu2488Met) c.3430C>A (p.Leu1144Met) c.451C>A (p.Leu151Met) c.550C>A (p.Leu184Met) c.7450C>A (p.Leu2484Met) c.219C>A (n.219C>A) c.7447C>A (p.Leu2483Met) c.7459C>A (p.Leu2487Met) c.7438C>A (p.Leu2480Met) c.7093C>A (p.Leu2365Met) c.3439C>A (p.Leu1147Met) c.7333C>A (p.Leu2445Met) c.7324C>A (p.Leu2442Met) c.7339C>A (p.Leu2447Met) c.1636C>A (p.Leu546Met) | |
X | g.31774041A>C | CA515859332 | DMD | c.2307T>G (p.Ser769=) c.81T>G (p.Ser27=) n.1122T>G n.1044T>G n.953T>G c.7461T>G (p.Ser2487=) c.3429T>G (p.Ser1143=) c.450T>G (p.Ser150=) c.549T>G (p.Ser183=) c.7449T>G (p.Ser2483=) c.218T>G (n.218T>G) c.7446T>G (p.Ser2482=) c.7458T>G (p.Ser2486=) c.7437T>G (p.Ser2479=) c.7092T>G (p.Ser2364=) c.3438T>G (p.Ser1146=) c.7332T>G (p.Ser2444=) c.7323T>G (p.Ser2441=) c.7338T>G (p.Ser2446=) c.1635T>G (p.Ser545=) | |
X | g.31774041A>G | CA515859333 | DMD | c.2307T>C (p.Ser769=) c.81T>C (p.Ser27=) n.1122T>C n.1044T>C n.953T>C c.7461T>C (p.Ser2487=) c.3429T>C (p.Ser1143=) c.450T>C (p.Ser150=) c.549T>C (p.Ser183=) c.7449T>C (p.Ser2483=) c.218T>C (n.218T>C) c.7446T>C (p.Ser2482=) c.7458T>C (p.Ser2486=) c.7437T>C (p.Ser2479=) c.7092T>C (p.Ser2364=) c.3438T>C (p.Ser1146=) c.7332T>C (p.Ser2444=) c.7323T>C (p.Ser2441=) c.7338T>C (p.Ser2446=) c.1635T>C (p.Ser545=) | |
X | g.31774041A>T | CA515859334 | DMD | c.2307T>A (p.Ser769=) c.81T>A (p.Ser27=) n.1122T>A n.1044T>A n.953T>A c.7461T>A (p.Ser2487=) c.3429T>A (p.Ser1143=) c.450T>A (p.Ser150=) c.549T>A (p.Ser183=) c.7449T>A (p.Ser2483=) c.218T>A (n.218T>A) c.7446T>A (p.Ser2482=) c.7458T>A (p.Ser2486=) c.7437T>A (p.Ser2479=) c.7092T>A (p.Ser2364=) c.3438T>A (p.Ser1146=) c.7332T>A (p.Ser2444=) c.7323T>A (p.Ser2441=) c.7338T>A (p.Ser2446=) c.1635T>A (p.Ser545=) | |
X | g.31774042G>A | CA412658882 | DMD | c.2306C>T (p.Ser769Phe) c.80C>T (p.Ser27Phe) n.1121C>T n.1043C>T n.952C>T c.7460C>T (p.Ser2487Phe) c.3428C>T (p.Ser1143Phe) c.449C>T (p.Ser150Phe) c.548C>T (p.Ser183Phe) c.7448C>T (p.Ser2483Phe) c.217C>T (n.217C>T) c.7445C>T (p.Ser2482Phe) c.7457C>T (p.Ser2486Phe) c.7436C>T (p.Ser2479Phe) c.7091C>T (p.Ser2364Phe) c.3437C>T (p.Ser1146Phe) c.7331C>T (p.Ser2444Phe) c.7322C>T (p.Ser2441Phe) c.7337C>T (p.Ser2446Phe) c.1634C>T (p.Ser545Phe) | |
X | g.31774042G>C | CA412658884 | DMD | c.2306C>G (p.Ser769Cys) c.80C>G (p.Ser27Cys) n.1121C>G n.1043C>G n.952C>G c.7460C>G (p.Ser2487Cys) c.3428C>G (p.Ser1143Cys) c.449C>G (p.Ser150Cys) c.548C>G (p.Ser183Cys) c.7448C>G (p.Ser2483Cys) c.217C>G (n.217C>G) c.7445C>G (p.Ser2482Cys) c.7457C>G (p.Ser2486Cys) c.7436C>G (p.Ser2479Cys) c.7091C>G (p.Ser2364Cys) c.3437C>G (p.Ser1146Cys) c.7331C>G (p.Ser2444Cys) c.7322C>G (p.Ser2441Cys) c.7337C>G (p.Ser2446Cys) c.1634C>G (p.Ser545Cys) | |
X | g.31774042G>T | CA412658883 | DMD | c.2306C>A (p.Ser769Tyr) c.80C>A (p.Ser27Tyr) n.1121C>A n.1043C>A n.952C>A c.7460C>A (p.Ser2487Tyr) c.3428C>A (p.Ser1143Tyr) c.449C>A (p.Ser150Tyr) c.548C>A (p.Ser183Tyr) c.7448C>A (p.Ser2483Tyr) c.217C>A (n.217C>A) c.7445C>A (p.Ser2482Tyr) c.7457C>A (p.Ser2486Tyr) c.7436C>A (p.Ser2479Tyr) c.7091C>A (p.Ser2364Tyr) c.3437C>A (p.Ser1146Tyr) c.7331C>A (p.Ser2444Tyr) c.7322C>A (p.Ser2441Tyr) c.7337C>A (p.Ser2446Tyr) c.1634C>A (p.Ser545Tyr) | gnomAD v4 |
X | g.31774043A>C | CA412658885 | DMD | c.2305T>G (p.Ser769Ala) c.79T>G (p.Ser27Ala) n.1120T>G n.1042T>G n.951T>G c.7459T>G (p.Ser2487Ala) c.3427T>G (p.Ser1143Ala) c.448T>G (p.Ser150Ala) c.547T>G (p.Ser183Ala) c.7447T>G (p.Ser2483Ala) c.216T>G (n.216T>G) c.7444T>G (p.Ser2482Ala) c.7456T>G (p.Ser2486Ala) c.7435T>G (p.Ser2479Ala) c.7090T>G (p.Ser2364Ala) c.3436T>G (p.Ser1146Ala) c.7330T>G (p.Ser2444Ala) c.7321T>G (p.Ser2441Ala) c.7336T>G (p.Ser2446Ala) c.1633T>G (p.Ser545Ala) | |
X | g.31774043A>G | CA412658887 | DMD | c.2305T>C (p.Ser769Pro) c.79T>C (p.Ser27Pro) n.1120T>C n.1042T>C n.951T>C c.7459T>C (p.Ser2487Pro) c.3427T>C (p.Ser1143Pro) c.448T>C (p.Ser150Pro) c.547T>C (p.Ser183Pro) c.7447T>C (p.Ser2483Pro) c.216T>C (n.216T>C) c.7444T>C (p.Ser2482Pro) c.7456T>C (p.Ser2486Pro) c.7435T>C (p.Ser2479Pro) c.7090T>C (p.Ser2364Pro) c.3436T>C (p.Ser1146Pro) c.7330T>C (p.Ser2444Pro) c.7321T>C (p.Ser2441Pro) c.7336T>C (p.Ser2446Pro) c.1633T>C (p.Ser545Pro) | |
X | g.31774043A>T | CA412658886 | DMD | c.2305T>A (p.Ser769Thr) c.79T>A (p.Ser27Thr) n.1120T>A n.1042T>A n.951T>A c.7459T>A (p.Ser2487Thr) c.3427T>A (p.Ser1143Thr) c.448T>A (p.Ser150Thr) c.547T>A (p.Ser183Thr) c.7447T>A (p.Ser2483Thr) c.216T>A (n.216T>A) c.7444T>A (p.Ser2482Thr) c.7456T>A (p.Ser2486Thr) c.7435T>A (p.Ser2479Thr) c.7090T>A (p.Ser2364Thr) c.3436T>A (p.Ser1146Thr) c.7330T>A (p.Ser2444Thr) c.7321T>A (p.Ser2441Thr) c.7336T>A (p.Ser2446Thr) c.1633T>A (p.Ser545Thr) | |
X | g.31774044A>C | CA515859335 | DMD | c.2304T>G (p.Leu768=) c.78T>G (p.Leu26=) n.1119T>G n.1041T>G n.950T>G c.7458T>G (p.Leu2486=) c.3426T>G (p.Leu1142=) c.447T>G (p.Leu149=) c.546T>G (p.Leu182=) c.7446T>G (p.Leu2482=) c.215T>G (n.215T>G) c.7443T>G (p.Leu2481=) c.7455T>G (p.Leu2485=) c.7434T>G (p.Leu2478=) c.7089T>G (p.Leu2363=) c.3435T>G (p.Leu1145=) c.7329T>G (p.Leu2443=) c.7320T>G (p.Leu2440=) c.7335T>G (p.Leu2445=) c.1632T>G (p.Leu544=) | ClinVar dbSNP |
X | g.31774044A>G | CA515859336 | DMD | c.2304T>C (p.Leu768=) c.78T>C (p.Leu26=) n.1119T>C n.1041T>C n.950T>C c.7458T>C (p.Leu2486=) c.3426T>C (p.Leu1142=) c.447T>C (p.Leu149=) c.546T>C (p.Leu182=) c.7446T>C (p.Leu2482=) c.215T>C (n.215T>C) c.7443T>C (p.Leu2481=) c.7455T>C (p.Leu2485=) c.7434T>C (p.Leu2478=) c.7089T>C (p.Leu2363=) c.3435T>C (p.Leu1145=) c.7329T>C (p.Leu2443=) c.7320T>C (p.Leu2440=) c.7335T>C (p.Leu2445=) c.1632T>C (p.Leu544=) | |
X | g.31774044A>T | CA515859337 | DMD | c.2304T>A (p.Leu768=) c.78T>A (p.Leu26=) n.1119T>A n.1041T>A n.950T>A c.7458T>A (p.Leu2486=) c.3426T>A (p.Leu1142=) c.447T>A (p.Leu149=) c.546T>A (p.Leu182=) c.7446T>A (p.Leu2482=) c.215T>A (n.215T>A) c.7443T>A (p.Leu2481=) c.7455T>A (p.Leu2485=) c.7434T>A (p.Leu2478=) c.7089T>A (p.Leu2363=) c.3435T>A (p.Leu1145=) c.7329T>A (p.Leu2443=) c.7320T>A (p.Leu2440=) c.7335T>A (p.Leu2445=) c.1632T>A (p.Leu544=) | |
X | g.31774045A>C | CA412658888 | DMD | c.2303T>G (p.Leu768Arg) c.77T>G (p.Leu26Arg) n.1118T>G n.1040T>G n.949T>G c.7457T>G (p.Leu2486Arg) c.3425T>G (p.Leu1142Arg) c.446T>G (p.Leu149Arg) c.545T>G (p.Leu182Arg) c.7445T>G (p.Leu2482Arg) c.214T>G (n.214T>G) c.7442T>G (p.Leu2481Arg) c.7454T>G (p.Leu2485Arg) c.7433T>G (p.Leu2478Arg) c.7088T>G (p.Leu2363Arg) c.3434T>G (p.Leu1145Arg) c.7328T>G (p.Leu2443Arg) c.7319T>G (p.Leu2440Arg) c.7334T>G (p.Leu2445Arg) c.1631T>G (p.Leu544Arg) | |
X | g.31774045A>G | CA412658890 | DMD | c.2303T>C (p.Leu768Pro) c.77T>C (p.Leu26Pro) n.1118T>C n.1040T>C n.949T>C c.7457T>C (p.Leu2486Pro) c.3425T>C (p.Leu1142Pro) c.446T>C (p.Leu149Pro) c.545T>C (p.Leu182Pro) c.7445T>C (p.Leu2482Pro) c.214T>C (n.214T>C) c.7442T>C (p.Leu2481Pro) c.7454T>C (p.Leu2485Pro) c.7433T>C (p.Leu2478Pro) c.7088T>C (p.Leu2363Pro) c.3434T>C (p.Leu1145Pro) c.7328T>C (p.Leu2443Pro) c.7319T>C (p.Leu2440Pro) c.7334T>C (p.Leu2445Pro) c.1631T>C (p.Leu544Pro) | |
X | g.31774045A>T | CA412658889 | DMD | c.2303T>A (p.Leu768His) c.77T>A (p.Leu26His) n.1118T>A n.1040T>A n.949T>A c.7457T>A (p.Leu2486His) c.3425T>A (p.Leu1142His) c.446T>A (p.Leu149His) c.545T>A (p.Leu182His) c.7445T>A (p.Leu2482His) c.214T>A (n.214T>A) c.7442T>A (p.Leu2481His) c.7454T>A (p.Leu2485His) c.7433T>A (p.Leu2478His) c.7088T>A (p.Leu2363His) c.3434T>A (p.Leu1145His) c.7328T>A (p.Leu2443His) c.7319T>A (p.Leu2440His) c.7334T>A (p.Leu2445His) c.1631T>A (p.Leu544His) | |
X | g.31774046G>A | CA412658891 | DMD | c.2302C>T (p.Leu768Phe) c.76C>T (p.Leu26Phe) n.1117C>T n.1039C>T n.948C>T c.7456C>T (p.Leu2486Phe) c.3424C>T (p.Leu1142Phe) c.445C>T (p.Leu149Phe) c.544C>T (p.Leu182Phe) c.7444C>T (p.Leu2482Phe) c.213C>T (n.213C>T) c.7441C>T (p.Leu2481Phe) c.7453C>T (p.Leu2485Phe) c.7432C>T (p.Leu2478Phe) c.7087C>T (p.Leu2363Phe) c.3433C>T (p.Leu1145Phe) c.7327C>T (p.Leu2443Phe) c.7318C>T (p.Leu2440Phe) c.7333C>T (p.Leu2445Phe) c.1630C>T (p.Leu544Phe) | ClinVar |
X | g.31774046G>C | CA412658892 | DMD | c.2302C>G (p.Leu768Val) c.76C>G (p.Leu26Val) n.1117C>G n.1039C>G n.948C>G c.7456C>G (p.Leu2486Val) c.3424C>G (p.Leu1142Val) c.445C>G (p.Leu149Val) c.544C>G (p.Leu182Val) c.7444C>G (p.Leu2482Val) c.213C>G (n.213C>G) c.7441C>G (p.Leu2481Val) c.7453C>G (p.Leu2485Val) c.7432C>G (p.Leu2478Val) c.7087C>G (p.Leu2363Val) c.3433C>G (p.Leu1145Val) c.7327C>G (p.Leu2443Val) c.7318C>G (p.Leu2440Val) c.7333C>G (p.Leu2445Val) c.1630C>G (p.Leu544Val) | |
X | g.31774046G= | CA2422548634 | DMD | c.2302C= (p.Leu768=) c.76C= (p.Leu26=) n.1117C= n.1039C= n.948C= c.7456C= (p.Leu2486=) c.3424C= (p.Leu1142=) c.445C= (p.Leu149=) c.544C= (p.Leu182=) c.7444C= (p.Leu2482=) c.213C= (n.213C=) c.7441C= (p.Leu2481=) c.7453C= (p.Leu2485=) c.7432C= (p.Leu2478=) c.7087C= (p.Leu2363=) c.3433C= (p.Leu1145=) c.7327C= (p.Leu2443=) c.7318C= (p.Leu2440=) c.7333C= (p.Leu2445=) c.1630C= (p.Leu544=) | |
X | g.31774046G>T | CA412658893 | DMD | c.2302C>A (p.Leu768Ile) c.76C>A (p.Leu26Ile) n.1117C>A n.1039C>A n.948C>A c.7456C>A (p.Leu2486Ile) c.3424C>A (p.Leu1142Ile) c.445C>A (p.Leu149Ile) c.544C>A (p.Leu182Ile) c.7444C>A (p.Leu2482Ile) c.213C>A (n.213C>A) c.7441C>A (p.Leu2481Ile) c.7453C>A (p.Leu2485Ile) c.7432C>A (p.Leu2478Ile) c.7087C>A (p.Leu2363Ile) c.3433C>A (p.Leu1145Ile) c.7327C>A (p.Leu2443Ile) c.7318C>A (p.Leu2440Ile) c.7333C>A (p.Leu2445Ile) c.1630C>A (p.Leu544Ile) | dbSNP gnomAD v3 gnomAD v4 |
X | g.31774047C>A | CA10378272 | DMD | c.2301G>T (p.Trp767Cys) c.75G>T (p.Trp25Cys) n.1116G>T n.1038G>T n.947G>T c.7455G>T (p.Trp2485Cys) c.3423G>T (p.Trp1141Cys) c.444G>T (p.Trp148Cys) c.543G>T (p.Trp181Cys) c.7443G>T (p.Trp2481Cys) c.212G>T (n.212G>T) c.7440G>T (p.Trp2480Cys) c.7452G>T (p.Trp2484Cys) c.7431G>T (p.Trp2477Cys) c.7086G>T (p.Trp2362Cys) c.3432G>T (p.Trp1144Cys) c.7326G>T (p.Trp2442Cys) c.7317G>T (p.Trp2439Cys) c.7332G>T (p.Trp2444Cys) c.1629G>T (p.Trp543Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31774047C= | CA2422548635 | DMD | c.2301G= (p.Trp767=) c.75G= (p.Trp25=) n.1116G= n.1038G= n.947G= c.7455G= (p.Trp2485=) c.3423G= (p.Trp1141=) c.444G= (p.Trp148=) c.543G= (p.Trp181=) c.7443G= (p.Trp2481=) c.212G= (n.212G=) c.7440G= (p.Trp2480=) c.7452G= (p.Trp2484=) c.7431G= (p.Trp2477=) c.7086G= (p.Trp2362=) c.3432G= (p.Trp1144=) c.7326G= (p.Trp2442=) c.7317G= (p.Trp2439=) c.7332G= (p.Trp2444=) c.1629G= (p.Trp543=) | |
X | g.31774047C>G | CA412658894 | DMD | c.2301G>C (p.Trp767Cys) c.75G>C (p.Trp25Cys) n.1116G>C n.1038G>C n.947G>C c.7455G>C (p.Trp2485Cys) c.3423G>C (p.Trp1141Cys) c.444G>C (p.Trp148Cys) c.543G>C (p.Trp181Cys) c.7443G>C (p.Trp2481Cys) c.212G>C (n.212G>C) c.7440G>C (p.Trp2480Cys) c.7452G>C (p.Trp2484Cys) c.7431G>C (p.Trp2477Cys) c.7086G>C (p.Trp2362Cys) c.3432G>C (p.Trp1144Cys) c.7326G>C (p.Trp2442Cys) c.7317G>C (p.Trp2439Cys) c.7332G>C (p.Trp2444Cys) c.1629G>C (p.Trp543Cys) | |
X | g.31774047C>T | CA412658895 | DMD | c.2301G>A (p.Trp767Ter) c.75G>A (p.Trp25Ter) n.1116G>A n.1038G>A n.947G>A c.7455G>A (p.Trp2485Ter) c.3423G>A (p.Trp1141Ter) c.444G>A (p.Trp148Ter) c.543G>A (p.Trp181Ter) c.7443G>A (p.Trp2481Ter) c.212G>A (n.212G>A) c.7440G>A (p.Trp2480Ter) c.7452G>A (p.Trp2484Ter) c.7431G>A (p.Trp2477Ter) c.7086G>A (p.Trp2362Ter) c.3432G>A (p.Trp1144Ter) c.7326G>A (p.Trp2442Ter) c.7317G>A (p.Trp2439Ter) c.7332G>A (p.Trp2444Ter) c.1629G>A (p.Trp543Ter) | |
X | g.31774048C>A | CA328470492 | DMD | c.2300G>T (p.Trp767Leu) c.74G>T (p.Trp25Leu) n.1115G>T n.1037G>T n.946G>T c.7454G>T (p.Trp2485Leu) c.3422G>T (p.Trp1141Leu) c.443G>T (p.Trp148Leu) c.542G>T (p.Trp181Leu) c.7442G>T (p.Trp2481Leu) c.211G>T (n.211G>T) c.7439G>T (p.Trp2480Leu) c.7451G>T (p.Trp2484Leu) c.7430G>T (p.Trp2477Leu) c.7085G>T (p.Trp2362Leu) c.3431G>T (p.Trp1144Leu) c.7325G>T (p.Trp2442Leu) c.7316G>T (p.Trp2439Leu) c.7331G>T (p.Trp2444Leu) c.1628G>T (p.Trp543Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.31774048C= | CA2422548636 | DMD | c.2300G= (p.Trp767=) c.74G= (p.Trp25=) n.1115G= n.1037G= n.946G= c.7454G= (p.Trp2485=) c.3422G= (p.Trp1141=) c.443G= (p.Trp148=) c.542G= (p.Trp181=) c.7442G= (p.Trp2481=) c.211G= (n.211G=) c.7439G= (p.Trp2480=) c.7451G= (p.Trp2484=) c.7430G= (p.Trp2477=) c.7085G= (p.Trp2362=) c.3431G= (p.Trp1144=) c.7325G= (p.Trp2442=) c.7316G= (p.Trp2439=) c.7331G= (p.Trp2444=) c.1628G= (p.Trp543=) | |
X | g.31774048C>G | CA412658896 | DMD | c.2300G>C (p.Trp767Ser) c.74G>C (p.Trp25Ser) n.1115G>C n.1037G>C n.946G>C c.7454G>C (p.Trp2485Ser) c.3422G>C (p.Trp1141Ser) c.443G>C (p.Trp148Ser) c.542G>C (p.Trp181Ser) c.7442G>C (p.Trp2481Ser) c.211G>C (n.211G>C) c.7439G>C (p.Trp2480Ser) c.7451G>C (p.Trp2484Ser) c.7430G>C (p.Trp2477Ser) c.7085G>C (p.Trp2362Ser) c.3431G>C (p.Trp1144Ser) c.7325G>C (p.Trp2442Ser) c.7316G>C (p.Trp2439Ser) c.7331G>C (p.Trp2444Ser) c.1628G>C (p.Trp543Ser) | |
X | g.31774048C>T | CA412658897 | DMD | c.2300G>A (p.Trp767Ter) c.74G>A (p.Trp25Ter) n.1115G>A n.1037G>A n.946G>A c.7454G>A (p.Trp2485Ter) c.3422G>A (p.Trp1141Ter) c.443G>A (p.Trp148Ter) c.542G>A (p.Trp181Ter) c.7442G>A (p.Trp2481Ter) c.211G>A (n.211G>A) c.7439G>A (p.Trp2480Ter) c.7451G>A (p.Trp2484Ter) c.7430G>A (p.Trp2477Ter) c.7085G>A (p.Trp2362Ter) c.3431G>A (p.Trp1144Ter) c.7325G>A (p.Trp2442Ter) c.7316G>A (p.Trp2439Ter) c.7331G>A (p.Trp2444Ter) c.1628G>A (p.Trp543Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774049A>C | CA412658898 | DMD | c.2299T>G (p.Trp767Gly) c.73T>G (p.Trp25Gly) n.1114T>G n.1036T>G n.945T>G c.7453T>G (p.Trp2485Gly) c.3421T>G (p.Trp1141Gly) c.442T>G (p.Trp148Gly) c.541T>G (p.Trp181Gly) c.7441T>G (p.Trp2481Gly) c.210T>G (n.210T>G) c.7438T>G (p.Trp2480Gly) c.7450T>G (p.Trp2484Gly) c.7429T>G (p.Trp2477Gly) c.7084T>G (p.Trp2362Gly) c.3430T>G (p.Trp1144Gly) c.7324T>G (p.Trp2442Gly) c.7315T>G (p.Trp2439Gly) c.7330T>G (p.Trp2444Gly) c.1627T>G (p.Trp543Gly) | |
X | g.31774049A>G | CA412658899 | DMD | c.2299T>C (p.Trp767Arg) c.73T>C (p.Trp25Arg) n.1114T>C n.1036T>C n.945T>C c.7453T>C (p.Trp2485Arg) c.3421T>C (p.Trp1141Arg) c.442T>C (p.Trp148Arg) c.541T>C (p.Trp181Arg) c.7441T>C (p.Trp2481Arg) c.210T>C (n.210T>C) c.7438T>C (p.Trp2480Arg) c.7450T>C (p.Trp2484Arg) c.7429T>C (p.Trp2477Arg) c.7084T>C (p.Trp2362Arg) c.3430T>C (p.Trp1144Arg) c.7324T>C (p.Trp2442Arg) c.7315T>C (p.Trp2439Arg) c.7330T>C (p.Trp2444Arg) c.1627T>C (p.Trp543Arg) | |
X | g.31774049A>T | CA412658900 | DMD | c.2299T>A (p.Trp767Arg) c.73T>A (p.Trp25Arg) n.1114T>A n.1036T>A n.945T>A c.7453T>A (p.Trp2485Arg) c.3421T>A (p.Trp1141Arg) c.442T>A (p.Trp148Arg) c.541T>A (p.Trp181Arg) c.7441T>A (p.Trp2481Arg) c.210T>A (n.210T>A) c.7438T>A (p.Trp2480Arg) c.7450T>A (p.Trp2484Arg) c.7429T>A (p.Trp2477Arg) c.7084T>A (p.Trp2362Arg) c.3430T>A (p.Trp1144Arg) c.7324T>A (p.Trp2442Arg) c.7315T>A (p.Trp2439Arg) c.7330T>A (p.Trp2444Arg) c.1627T>A (p.Trp543Arg) | |
X | g.31774050G>A | CA515859338 | DMD | c.2298C>T (p.Asp766=) c.72C>T (p.Asp24=) n.1113C>T n.1035C>T n.944C>T c.7452C>T (p.Asp2484=) c.3420C>T (p.Asp1140=) c.441C>T (p.Asp147=) c.540C>T (p.Asp180=) c.7440C>T (p.Asp2480=) c.209C>T (n.209C>T) c.7437C>T (p.Asp2479=) c.7449C>T (p.Asp2483=) c.7428C>T (p.Asp2476=) c.7083C>T (p.Asp2361=) c.3429C>T (p.Asp1143=) c.7323C>T (p.Asp2441=) c.7314C>T (p.Asp2438=) c.7329C>T (p.Asp2443=) c.1626C>T (p.Asp542=) | dbSNP |
X | g.31774050G>C | CA412658901 | DMD | c.2298C>G (p.Asp766Glu) c.72C>G (p.Asp24Glu) n.1113C>G n.1035C>G n.944C>G c.7452C>G (p.Asp2484Glu) c.3420C>G (p.Asp1140Glu) c.441C>G (p.Asp147Glu) c.540C>G (p.Asp180Glu) c.7440C>G (p.Asp2480Glu) c.209C>G (n.209C>G) c.7437C>G (p.Asp2479Glu) c.7449C>G (p.Asp2483Glu) c.7428C>G (p.Asp2476Glu) c.7083C>G (p.Asp2361Glu) c.3429C>G (p.Asp1143Glu) c.7323C>G (p.Asp2441Glu) c.7314C>G (p.Asp2438Glu) c.7329C>G (p.Asp2443Glu) c.1626C>G (p.Asp542Glu) | |
X | g.31774050G= | CA2422548637 | DMD | c.2298C= (p.Asp766=) c.72C= (p.Asp24=) n.1113C= n.1035C= n.944C= c.7452C= (p.Asp2484=) c.3420C= (p.Asp1140=) c.441C= (p.Asp147=) c.540C= (p.Asp180=) c.7440C= (p.Asp2480=) c.209C= (n.209C=) c.7437C= (p.Asp2479=) c.7449C= (p.Asp2483=) c.7428C= (p.Asp2476=) c.7083C= (p.Asp2361=) c.3429C= (p.Asp1143=) c.7323C= (p.Asp2441=) c.7314C= (p.Asp2438=) c.7329C= (p.Asp2443=) c.1626C= (p.Asp542=) | |
X | g.31774050G>T | CA412658902 | DMD | c.2298C>A (p.Asp766Glu) c.72C>A (p.Asp24Glu) n.1113C>A n.1035C>A n.944C>A c.7452C>A (p.Asp2484Glu) c.3420C>A (p.Asp1140Glu) c.441C>A (p.Asp147Glu) c.540C>A (p.Asp180Glu) c.7440C>A (p.Asp2480Glu) c.209C>A (n.209C>A) c.7437C>A (p.Asp2479Glu) c.7449C>A (p.Asp2483Glu) c.7428C>A (p.Asp2476Glu) c.7083C>A (p.Asp2361Glu) c.3429C>A (p.Asp1143Glu) c.7323C>A (p.Asp2441Glu) c.7314C>A (p.Asp2438Glu) c.7329C>A (p.Asp2443Glu) c.1626C>A (p.Asp542Glu) | ClinVar gnomAD v4 |
X | g.31774051T>A | CA412658903 | DMD | c.2297A>T (p.Asp766Val) c.71A>T (p.Asp24Val) n.1112A>T n.1034A>T n.943A>T c.7451A>T (p.Asp2484Val) c.3419A>T (p.Asp1140Val) c.440A>T (p.Asp147Val) c.539A>T (p.Asp180Val) c.7439A>T (p.Asp2480Val) c.208A>T (n.208A>T) c.7436A>T (p.Asp2479Val) c.7448A>T (p.Asp2483Val) c.7427A>T (p.Asp2476Val) c.7082A>T (p.Asp2361Val) c.3428A>T (p.Asp1143Val) c.7322A>T (p.Asp2441Val) c.7313A>T (p.Asp2438Val) c.7328A>T (p.Asp2443Val) c.1625A>T (p.Asp542Val) | |
X | g.31774051T>C | CA412658904 | DMD | c.2297A>G (p.Asp766Gly) c.71A>G (p.Asp24Gly) n.1112A>G n.1034A>G n.943A>G c.7451A>G (p.Asp2484Gly) c.3419A>G (p.Asp1140Gly) c.440A>G (p.Asp147Gly) c.539A>G (p.Asp180Gly) c.7439A>G (p.Asp2480Gly) c.208A>G (n.208A>G) c.7436A>G (p.Asp2479Gly) c.7448A>G (p.Asp2483Gly) c.7427A>G (p.Asp2476Gly) c.7082A>G (p.Asp2361Gly) c.3428A>G (p.Asp1143Gly) c.7322A>G (p.Asp2441Gly) c.7313A>G (p.Asp2438Gly) c.7328A>G (p.Asp2443Gly) c.1625A>G (p.Asp542Gly) | |
X | g.31774051T>G | CA412658905 | DMD | c.2297A>C (p.Asp766Ala) c.71A>C (p.Asp24Ala) n.1112A>C n.1034A>C n.943A>C c.7451A>C (p.Asp2484Ala) c.3419A>C (p.Asp1140Ala) c.440A>C (p.Asp147Ala) c.539A>C (p.Asp180Ala) c.7439A>C (p.Asp2480Ala) c.208A>C (n.208A>C) c.7436A>C (p.Asp2479Ala) c.7448A>C (p.Asp2483Ala) c.7427A>C (p.Asp2476Ala) c.7082A>C (p.Asp2361Ala) c.3428A>C (p.Asp1143Ala) c.7322A>C (p.Asp2441Ala) c.7313A>C (p.Asp2438Ala) c.7328A>C (p.Asp2443Ala) c.1625A>C (p.Asp542Ala) | |
X | g.31774051_31774055delinsAGA | CA2695232442 | DMD | c.2293_2297delinsTCT (p.Thr765SerfsTer7) c.67_71delinsTCT (p.Thr23SerfsTer7) n.1108_1112delinsTCT n.1030_1034delinsTCT n.939_943delinsTCT c.7447_7451delinsTCT (p.Thr2483SerfsTer7) c.3415_3419delinsTCT (p.Thr1139SerfsTer7) c.436_440delinsTCT (p.Thr146SerfsTer7) c.535_539delinsTCT (p.Thr179SerfsTer7) c.7435_7439delinsTCT (p.Thr2479SerfsTer7) c.204_208delinsTCT (n.204_208delinsTCT) c.7432_7436delinsTCT (p.Thr2478SerfsTer7) c.7444_7448delinsTCT (p.Thr2482SerfsTer7) c.7423_7427delinsTCT (p.Thr2475SerfsTer7) c.7078_7082delinsTCT (p.Thr2360SerfsTer7) c.3424_3428delinsTCT (p.Thr1142SerfsTer7) c.7318_7322delinsTCT (p.Thr2440SerfsTer7) c.7309_7313delinsTCT (p.Thr2437SerfsTer7) c.7324_7328delinsTCT (p.Thr2442SerfsTer7) c.1621_1625delinsTCT (p.Thr541SerfsTer7) | |
X | g.31774052C>A | CA412658906 | DMD | c.2296G>T (p.Asp766Tyr) c.70G>T (p.Asp24Tyr) n.1111G>T n.1033G>T n.942G>T c.7450G>T (p.Asp2484Tyr) c.3418G>T (p.Asp1140Tyr) c.439G>T (p.Asp147Tyr) c.538G>T (p.Asp180Tyr) c.7438G>T (p.Asp2480Tyr) c.207G>T (n.207G>T) c.7435G>T (p.Asp2479Tyr) c.7447G>T (p.Asp2483Tyr) c.7426G>T (p.Asp2476Tyr) c.7081G>T (p.Asp2361Tyr) c.3427G>T (p.Asp1143Tyr) c.7321G>T (p.Asp2441Tyr) c.7312G>T (p.Asp2438Tyr) c.7327G>T (p.Asp2443Tyr) c.1624G>T (p.Asp542Tyr) | dbSNP gnomAD v3 gnomAD v4 |
X | g.31774052C= | CA2422548638 | DMD | c.2296G= (p.Asp766=) c.70G= (p.Asp24=) n.1111G= n.1033G= n.942G= c.7450G= (p.Asp2484=) c.3418G= (p.Asp1140=) c.439G= (p.Asp147=) c.538G= (p.Asp180=) c.7438G= (p.Asp2480=) c.207G= (n.207G=) c.7435G= (p.Asp2479=) c.7447G= (p.Asp2483=) c.7426G= (p.Asp2476=) c.7081G= (p.Asp2361=) c.3427G= (p.Asp1143=) c.7321G= (p.Asp2441=) c.7312G= (p.Asp2438=) c.7327G= (p.Asp2443=) c.1624G= (p.Asp542=) | |
X | g.31774052C>G | CA10378274 | DMD | c.2296G>C (p.Asp766His) c.70G>C (p.Asp24His) n.1111G>C n.1033G>C n.942G>C c.7450G>C (p.Asp2484His) c.3418G>C (p.Asp1140His) c.439G>C (p.Asp147His) c.538G>C (p.Asp180His) c.7438G>C (p.Asp2480His) c.207G>C (n.207G>C) c.7435G>C (p.Asp2479His) c.7447G>C (p.Asp2483His) c.7426G>C (p.Asp2476His) c.7081G>C (p.Asp2361His) c.3427G>C (p.Asp1143His) c.7321G>C (p.Asp2441His) c.7312G>C (p.Asp2438His) c.7327G>C (p.Asp2443His) c.1624G>C (p.Asp542His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774052C>T | CA10378273 | DMD | c.2296G>A (p.Asp766Asn) c.70G>A (p.Asp24Asn) n.1111G>A n.1033G>A n.942G>A c.7450G>A (p.Asp2484Asn) c.3418G>A (p.Asp1140Asn) c.439G>A (p.Asp147Asn) c.538G>A (p.Asp180Asn) c.7438G>A (p.Asp2480Asn) c.207G>A (n.207G>A) c.7435G>A (p.Asp2479Asn) c.7447G>A (p.Asp2483Asn) c.7426G>A (p.Asp2476Asn) c.7081G>A (p.Asp2361Asn) c.3427G>A (p.Asp1143Asn) c.7321G>A (p.Asp2441Asn) c.7312G>A (p.Asp2438Asn) c.7327G>A (p.Asp2443Asn) c.1624G>A (p.Asp542Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774053G>A | CA10378275 | DMD | c.2295C>T (p.Thr765=) c.69C>T (p.Thr23=) n.1110C>T n.1032C>T n.941C>T c.7449C>T (p.Thr2483=) c.3417C>T (p.Thr1139=) c.438C>T (p.Thr146=) c.537C>T (p.Thr179=) c.7437C>T (p.Thr2479=) c.206C>T (n.206C>T) c.7434C>T (p.Thr2478=) c.7446C>T (p.Thr2482=) c.7425C>T (p.Thr2475=) c.7080C>T (p.Thr2360=) c.3426C>T (p.Thr1142=) c.7320C>T (p.Thr2440=) c.7311C>T (p.Thr2437=) c.7326C>T (p.Thr2442=) c.1623C>T (p.Thr541=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774053G>C | CA515859339 | DMD | c.2295C>G (p.Thr765=) c.69C>G (p.Thr23=) n.1110C>G n.1032C>G n.941C>G c.7449C>G (p.Thr2483=) c.3417C>G (p.Thr1139=) c.438C>G (p.Thr146=) c.537C>G (p.Thr179=) c.7437C>G (p.Thr2479=) c.206C>G (n.206C>G) c.7434C>G (p.Thr2478=) c.7446C>G (p.Thr2482=) c.7425C>G (p.Thr2475=) c.7080C>G (p.Thr2360=) c.3426C>G (p.Thr1142=) c.7320C>G (p.Thr2440=) c.7311C>G (p.Thr2437=) c.7326C>G (p.Thr2442=) c.1623C>G (p.Thr541=) | |
X | g.31774053G= | CA2422548639 | DMD | c.2295C= (p.Thr765=) c.69C= (p.Thr23=) n.1110C= n.1032C= n.941C= c.7449C= (p.Thr2483=) c.3417C= (p.Thr1139=) c.438C= (p.Thr146=) c.537C= (p.Thr179=) c.7437C= (p.Thr2479=) c.206C= (n.206C=) c.7434C= (p.Thr2478=) c.7446C= (p.Thr2482=) c.7425C= (p.Thr2475=) c.7080C= (p.Thr2360=) c.3426C= (p.Thr1142=) c.7320C= (p.Thr2440=) c.7311C= (p.Thr2437=) c.7326C= (p.Thr2442=) c.1623C= (p.Thr541=) | |
X | g.31774053G>T | CA515859340 | DMD | c.2295C>A (p.Thr765=) c.69C>A (p.Thr23=) n.1110C>A n.1032C>A n.941C>A c.7449C>A (p.Thr2483=) c.3417C>A (p.Thr1139=) c.438C>A (p.Thr146=) c.537C>A (p.Thr179=) c.7437C>A (p.Thr2479=) c.206C>A (n.206C>A) c.7434C>A (p.Thr2478=) c.7446C>A (p.Thr2482=) c.7425C>A (p.Thr2475=) c.7080C>A (p.Thr2360=) c.3426C>A (p.Thr1142=) c.7320C>A (p.Thr2440=) c.7311C>A (p.Thr2437=) c.7326C>A (p.Thr2442=) c.1623C>A (p.Thr541=) | ClinVar |
X | g.31774054del | CA2499226632 | DMD | c.2295del (p.Asp766ThrfsTer10) c.69del (p.Asp24ThrfsTer10) n.1110del n.1032del n.941del c.7449del (p.Asp2484ThrfsTer10) c.3417del (p.Asp1140ThrfsTer10) c.438del (p.Asp147ThrfsTer10) c.537del (p.Asp180ThrfsTer10) c.7437del (p.Asp2480ThrfsTer10) c.206del (n.206del) c.7434del (p.Asp2479ThrfsTer10) c.7446del (p.Asp2483ThrfsTer10) c.7425del (p.Asp2476ThrfsTer10) c.7080del (p.Asp2361ThrfsTer10) c.3426del (p.Asp1143ThrfsTer10) c.7320del (p.Asp2441ThrfsTer10) c.7311del (p.Asp2438ThrfsTer10) c.7326del (p.Asp2443ThrfsTer10) c.1623del (p.Asp542ThrfsTer10) | ClinVar dbSNP |
X | g.31774054G>A | CA412658907 | DMD | c.2294C>T (p.Thr765Ile) c.68C>T (p.Thr23Ile) n.1109C>T n.1031C>T n.940C>T c.7448C>T (p.Thr2483Ile) c.3416C>T (p.Thr1139Ile) c.437C>T (p.Thr146Ile) c.536C>T (p.Thr179Ile) c.7436C>T (p.Thr2479Ile) c.205C>T (n.205C>T) c.7433C>T (p.Thr2478Ile) c.7445C>T (p.Thr2482Ile) c.7424C>T (p.Thr2475Ile) c.7079C>T (p.Thr2360Ile) c.3425C>T (p.Thr1142Ile) c.7319C>T (p.Thr2440Ile) c.7310C>T (p.Thr2437Ile) c.7325C>T (p.Thr2442Ile) c.1622C>T (p.Thr541Ile) | dbSNP |
X | g.31774054G>C | CA412658908 | DMD | c.2294C>G (p.Thr765Ser) c.68C>G (p.Thr23Ser) n.1109C>G n.1031C>G n.940C>G c.7448C>G (p.Thr2483Ser) c.3416C>G (p.Thr1139Ser) c.437C>G (p.Thr146Ser) c.536C>G (p.Thr179Ser) c.7436C>G (p.Thr2479Ser) c.205C>G (n.205C>G) c.7433C>G (p.Thr2478Ser) c.7445C>G (p.Thr2482Ser) c.7424C>G (p.Thr2475Ser) c.7079C>G (p.Thr2360Ser) c.3425C>G (p.Thr1142Ser) c.7319C>G (p.Thr2440Ser) c.7310C>G (p.Thr2437Ser) c.7325C>G (p.Thr2442Ser) c.1622C>G (p.Thr541Ser) | |
X | g.31774054G= | CA2422548640 | DMD | c.2294C= (p.Thr765=) c.68C= (p.Thr23=) n.1109C= n.1031C= n.940C= c.7448C= (p.Thr2483=) c.3416C= (p.Thr1139=) c.437C= (p.Thr146=) c.536C= (p.Thr179=) c.7436C= (p.Thr2479=) c.205C= (n.205C=) c.7433C= (p.Thr2478=) c.7445C= (p.Thr2482=) c.7424C= (p.Thr2475=) c.7079C= (p.Thr2360=) c.3425C= (p.Thr1142=) c.7319C= (p.Thr2440=) c.7310C= (p.Thr2437=) c.7325C= (p.Thr2442=) c.1622C= (p.Thr541=) | |
X | g.31774054G>T | CA10378276 | DMD | c.2294C>A (p.Thr765Asn) c.68C>A (p.Thr23Asn) n.1109C>A n.1031C>A n.940C>A c.7448C>A (p.Thr2483Asn) c.3416C>A (p.Thr1139Asn) c.437C>A (p.Thr146Asn) c.536C>A (p.Thr179Asn) c.7436C>A (p.Thr2479Asn) c.205C>A (n.205C>A) c.7433C>A (p.Thr2478Asn) c.7445C>A (p.Thr2482Asn) c.7424C>A (p.Thr2475Asn) c.7079C>A (p.Thr2360Asn) c.3425C>A (p.Thr1142Asn) c.7319C>A (p.Thr2440Asn) c.7310C>A (p.Thr2437Asn) c.7325C>A (p.Thr2442Asn) c.1622C>A (p.Thr541Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31774055T>A | CA412658911 | DMD | c.2293A>T (p.Thr765Ser) c.67A>T (p.Thr23Ser) n.1108A>T n.1030A>T n.939A>T c.7447A>T (p.Thr2483Ser) c.3415A>T (p.Thr1139Ser) c.436A>T (p.Thr146Ser) c.535A>T (p.Thr179Ser) c.7435A>T (p.Thr2479Ser) c.204A>T (n.204A>T) c.7432A>T (p.Thr2478Ser) c.7444A>T (p.Thr2482Ser) c.7423A>T (p.Thr2475Ser) c.7078A>T (p.Thr2360Ser) c.3424A>T (p.Thr1142Ser) c.7318A>T (p.Thr2440Ser) c.7309A>T (p.Thr2437Ser) c.7324A>T (p.Thr2442Ser) c.1621A>T (p.Thr541Ser) | |
X | g.31774055T>C | CA412658910 | DMD | c.2293A>G (p.Thr765Ala) c.67A>G (p.Thr23Ala) n.1108A>G n.1030A>G n.939A>G c.7447A>G (p.Thr2483Ala) c.3415A>G (p.Thr1139Ala) c.436A>G (p.Thr146Ala) c.535A>G (p.Thr179Ala) c.7435A>G (p.Thr2479Ala) c.204A>G (n.204A>G) c.7432A>G (p.Thr2478Ala) c.7444A>G (p.Thr2482Ala) c.7423A>G (p.Thr2475Ala) c.7078A>G (p.Thr2360Ala) c.3424A>G (p.Thr1142Ala) c.7318A>G (p.Thr2440Ala) c.7309A>G (p.Thr2437Ala) c.7324A>G (p.Thr2442Ala) c.1621A>G (p.Thr541Ala) | |
X | g.31774055T>G | CA412658909 | DMD | c.2293A>C (p.Thr765Pro) c.67A>C (p.Thr23Pro) n.1108A>C n.1030A>C n.939A>C c.7447A>C (p.Thr2483Pro) c.3415A>C (p.Thr1139Pro) c.436A>C (p.Thr146Pro) c.535A>C (p.Thr179Pro) c.7435A>C (p.Thr2479Pro) c.204A>C (n.204A>C) c.7432A>C (p.Thr2478Pro) c.7444A>C (p.Thr2482Pro) c.7423A>C (p.Thr2475Pro) c.7078A>C (p.Thr2360Pro) c.3424A>C (p.Thr1142Pro) c.7318A>C (p.Thr2440Pro) c.7309A>C (p.Thr2437Pro) c.7324A>C (p.Thr2442Pro) c.1621A>C (p.Thr541Pro) | |
X | g.31774056A>C | CA515859341 | DMD | c.2292T>G (p.Leu764=) c.66T>G (p.Leu22=) n.1107T>G n.1029T>G n.938T>G c.7446T>G (p.Leu2482=) c.3414T>G (p.Leu1138=) c.435T>G (p.Leu145=) c.534T>G (p.Leu178=) c.7434T>G (p.Leu2478=) c.203T>G (n.203T>G) c.7431T>G (p.Leu2477=) c.7443T>G (p.Leu2481=) c.7422T>G (p.Leu2474=) c.7077T>G (p.Leu2359=) c.3423T>G (p.Leu1141=) c.7317T>G (p.Leu2439=) c.7308T>G (p.Leu2436=) c.7323T>G (p.Leu2441=) c.1620T>G (p.Leu540=) | |
X | g.31774056A>G | CA515859343 | DMD | c.2292T>C (p.Leu764=) c.66T>C (p.Leu22=) n.1107T>C n.1029T>C n.938T>C c.7446T>C (p.Leu2482=) c.3414T>C (p.Leu1138=) c.435T>C (p.Leu145=) c.534T>C (p.Leu178=) c.7434T>C (p.Leu2478=) c.203T>C (n.203T>C) c.7431T>C (p.Leu2477=) c.7443T>C (p.Leu2481=) c.7422T>C (p.Leu2474=) c.7077T>C (p.Leu2359=) c.3423T>C (p.Leu1141=) c.7317T>C (p.Leu2439=) c.7308T>C (p.Leu2436=) c.7323T>C (p.Leu2441=) c.1620T>C (p.Leu540=) | |
X | g.31774056A>T | CA515859342 | DMD | c.2292T>A (p.Leu764=) c.66T>A (p.Leu22=) n.1107T>A n.1029T>A n.938T>A c.7446T>A (p.Leu2482=) c.3414T>A (p.Leu1138=) c.435T>A (p.Leu145=) c.534T>A (p.Leu178=) c.7434T>A (p.Leu2478=) c.203T>A (n.203T>A) c.7431T>A (p.Leu2477=) c.7443T>A (p.Leu2481=) c.7422T>A (p.Leu2474=) c.7077T>A (p.Leu2359=) c.3423T>A (p.Leu1141=) c.7317T>A (p.Leu2439=) c.7308T>A (p.Leu2436=) c.7323T>A (p.Leu2441=) c.1620T>A (p.Leu540=) | |
X | g.31774057A>C | CA412658912 | DMD | c.2291T>G (p.Leu764Arg) c.65T>G (p.Leu22Arg) n.1106T>G n.1028T>G n.937T>G c.7445T>G (p.Leu2482Arg) c.3413T>G (p.Leu1138Arg) c.434T>G (p.Leu145Arg) c.533T>G (p.Leu178Arg) c.7433T>G (p.Leu2478Arg) c.202T>G (n.202T>G) c.7430T>G (p.Leu2477Arg) c.7442T>G (p.Leu2481Arg) c.7421T>G (p.Leu2474Arg) c.7076T>G (p.Leu2359Arg) c.3422T>G (p.Leu1141Arg) c.7316T>G (p.Leu2439Arg) c.7307T>G (p.Leu2436Arg) c.7322T>G (p.Leu2441Arg) c.1619T>G (p.Leu540Arg) | |
X | g.31774057A>G | CA412658913 | DMD | c.2291T>C (p.Leu764Pro) c.65T>C (p.Leu22Pro) n.1106T>C n.1028T>C n.937T>C c.7445T>C (p.Leu2482Pro) c.3413T>C (p.Leu1138Pro) c.434T>C (p.Leu145Pro) c.533T>C (p.Leu178Pro) c.7433T>C (p.Leu2478Pro) c.202T>C (n.202T>C) c.7430T>C (p.Leu2477Pro) c.7442T>C (p.Leu2481Pro) c.7421T>C (p.Leu2474Pro) c.7076T>C (p.Leu2359Pro) c.3422T>C (p.Leu1141Pro) c.7316T>C (p.Leu2439Pro) c.7307T>C (p.Leu2436Pro) c.7322T>C (p.Leu2441Pro) c.1619T>C (p.Leu540Pro) | |
X | g.31774057A>T | CA412658914 | DMD | c.2291T>A (p.Leu764His) c.65T>A (p.Leu22His) n.1106T>A n.1028T>A n.937T>A c.7445T>A (p.Leu2482His) c.3413T>A (p.Leu1138His) c.434T>A (p.Leu145His) c.533T>A (p.Leu178His) c.7433T>A (p.Leu2478His) c.202T>A (n.202T>A) c.7430T>A (p.Leu2477His) c.7442T>A (p.Leu2481His) c.7421T>A (p.Leu2474His) c.7076T>A (p.Leu2359His) c.3422T>A (p.Leu1141His) c.7316T>A (p.Leu2439His) c.7307T>A (p.Leu2436His) c.7322T>A (p.Leu2441His) c.1619T>A (p.Leu540His) | |
X | g.31774057_31774058delinsAG | CA2422548641 | DMD | c.2290_2291delinsCT (p.Leu764=) c.64_65delinsCT (p.Leu22=) n.1105_1106delinsCT n.1027_1028delinsCT n.936_937delinsCT c.7444_7445delinsCT (p.Leu2482=) c.3412_3413delinsCT (p.Leu1138=) c.433_434delinsCT (p.Leu145=) c.532_533delinsCT (p.Leu178=) c.7432_7433delinsCT (p.Leu2478=) c.201_202delinsCT (n.201_202delinsCT) c.7429_7430delinsCT (p.Leu2477=) c.7441_7442delinsCT (p.Leu2481=) c.7420_7421delinsCT (p.Leu2474=) c.7075_7076delinsCT (p.Leu2359=) c.3421_3422delinsCT (p.Leu1141=) c.7315_7316delinsCT (p.Leu2439=) c.7306_7307delinsCT (p.Leu2436=) c.7321_7322delinsCT (p.Leu2441=) c.1618_1619delinsCT (p.Leu540=) | |
X | g.31774058del | CA275314 | DMD | c.2290del (p.Thr765ProfsTer11) c.64del (p.Thr23ProfsTer11) n.1105del n.1027del n.936del c.7444del (p.Thr2483ProfsTer11) c.3412del (p.Thr1139ProfsTer11) c.433del (p.Thr146ProfsTer11) c.532del (p.Thr179ProfsTer11) c.7432del (p.Thr2479ProfsTer11) c.201del (n.201del) c.7429del (p.Thr2478ProfsTer11) c.7441del (p.Thr2482ProfsTer11) c.7420del (p.Thr2475ProfsTer11) c.7075del (p.Thr2360ProfsTer11) c.3421del (p.Thr1142ProfsTer11) c.7315del (p.Thr2440ProfsTer11) c.7306del (p.Thr2437ProfsTer11) c.7321del (p.Thr2442ProfsTer11) c.1618del (p.Thr541ProfsTer11) | ClinVar dbSNP |
X | g.31774058G>A | CA412658915 | DMD | c.2290C>T (p.Leu764Phe) c.64C>T (p.Leu22Phe) n.1105C>T n.1027C>T n.936C>T c.7444C>T (p.Leu2482Phe) c.3412C>T (p.Leu1138Phe) c.433C>T (p.Leu145Phe) c.532C>T (p.Leu178Phe) c.7432C>T (p.Leu2478Phe) c.201C>T (n.201C>T) c.7429C>T (p.Leu2477Phe) c.7441C>T (p.Leu2481Phe) c.7420C>T (p.Leu2474Phe) c.7075C>T (p.Leu2359Phe) c.3421C>T (p.Leu1141Phe) c.7315C>T (p.Leu2439Phe) c.7306C>T (p.Leu2436Phe) c.7321C>T (p.Leu2441Phe) c.1618C>T (p.Leu540Phe) | |
X | g.31774058G>C | CA412658916 | DMD | c.2290C>G (p.Leu764Val) c.64C>G (p.Leu22Val) n.1105C>G n.1027C>G n.936C>G c.7444C>G (p.Leu2482Val) c.3412C>G (p.Leu1138Val) c.433C>G (p.Leu145Val) c.532C>G (p.Leu178Val) c.7432C>G (p.Leu2478Val) c.201C>G (n.201C>G) c.7429C>G (p.Leu2477Val) c.7441C>G (p.Leu2481Val) c.7420C>G (p.Leu2474Val) c.7075C>G (p.Leu2359Val) c.3421C>G (p.Leu1141Val) c.7315C>G (p.Leu2439Val) c.7306C>G (p.Leu2436Val) c.7321C>G (p.Leu2441Val) c.1618C>G (p.Leu540Val) | |
X | g.31774058G>T | CA412658917 | DMD | c.2290C>A (p.Leu764Ile) c.64C>A (p.Leu22Ile) n.1105C>A n.1027C>A n.936C>A c.7444C>A (p.Leu2482Ile) c.3412C>A (p.Leu1138Ile) c.433C>A (p.Leu145Ile) c.532C>A (p.Leu178Ile) c.7432C>A (p.Leu2478Ile) c.201C>A (n.201C>A) c.7429C>A (p.Leu2477Ile) c.7441C>A (p.Leu2481Ile) c.7420C>A (p.Leu2474Ile) c.7075C>A (p.Leu2359Ile) c.3421C>A (p.Leu1141Ile) c.7315C>A (p.Leu2439Ile) c.7306C>A (p.Leu2436Ile) c.7321C>A (p.Leu2441Ile) c.1618C>A (p.Leu540Ile) | |
X | g.31774059T>A | CA412658918 | DMD | c.2289A>T (p.Glu763Asp) c.63A>T (p.Glu21Asp) n.1104A>T n.1026A>T n.935A>T c.7443A>T (p.Glu2481Asp) c.3411A>T (p.Glu1137Asp) c.432A>T (p.Glu144Asp) c.531A>T (p.Glu177Asp) c.7431A>T (p.Glu2477Asp) c.200A>T (n.200A>T) c.7428A>T (p.Glu2476Asp) c.7440A>T (p.Glu2480Asp) c.7419A>T (p.Glu2473Asp) c.7074A>T (p.Glu2358Asp) c.3420A>T (p.Glu1140Asp) c.7314A>T (p.Glu2438Asp) c.7305A>T (p.Glu2435Asp) c.7320A>T (p.Glu2440Asp) c.1617A>T (p.Glu539Asp) | |
X | g.31774059T>C | CA515859344 | DMD | c.2289A>G (p.Glu763=) c.63A>G (p.Glu21=) n.1104A>G n.1026A>G n.935A>G c.7443A>G (p.Glu2481=) c.3411A>G (p.Glu1137=) c.432A>G (p.Glu144=) c.531A>G (p.Glu177=) c.7431A>G (p.Glu2477=) c.200A>G (n.200A>G) c.7428A>G (p.Glu2476=) c.7440A>G (p.Glu2480=) c.7419A>G (p.Glu2473=) c.7074A>G (p.Glu2358=) c.3420A>G (p.Glu1140=) c.7314A>G (p.Glu2438=) c.7305A>G (p.Glu2435=) c.7320A>G (p.Glu2440=) c.1617A>G (p.Glu539=) | ClinVar |
X | g.31774059T>G | CA412658919 | DMD | c.2289A>C (p.Glu763Asp) c.63A>C (p.Glu21Asp) n.1104A>C n.1026A>C n.935A>C c.7443A>C (p.Glu2481Asp) c.3411A>C (p.Glu1137Asp) c.432A>C (p.Glu144Asp) c.531A>C (p.Glu177Asp) c.7431A>C (p.Glu2477Asp) c.200A>C (n.200A>C) c.7428A>C (p.Glu2476Asp) c.7440A>C (p.Glu2480Asp) c.7419A>C (p.Glu2473Asp) c.7074A>C (p.Glu2358Asp) c.3420A>C (p.Glu1140Asp) c.7314A>C (p.Glu2438Asp) c.7305A>C (p.Glu2435Asp) c.7320A>C (p.Glu2440Asp) c.1617A>C (p.Glu539Asp) | |
X | g.31774060T>A | CA412658920 | DMD | c.2288A>T (p.Glu763Val) c.62A>T (p.Glu21Val) n.1103A>T n.1025A>T n.934A>T c.7442A>T (p.Glu2481Val) c.3410A>T (p.Glu1137Val) c.431A>T (p.Glu144Val) c.530A>T (p.Glu177Val) c.7430A>T (p.Glu2477Val) c.199A>T (n.199A>T) c.7427A>T (p.Glu2476Val) c.7439A>T (p.Glu2480Val) c.7418A>T (p.Glu2473Val) c.7073A>T (p.Glu2358Val) c.3419A>T (p.Glu1140Val) c.7313A>T (p.Glu2438Val) c.7304A>T (p.Glu2435Val) c.7319A>T (p.Glu2440Val) c.1616A>T (p.Glu539Val) | |
X | g.31774060T>C | CA10378277 | DMD | c.2288A>G (p.Glu763Gly) c.62A>G (p.Glu21Gly) n.1103A>G n.1025A>G n.934A>G c.7442A>G (p.Glu2481Gly) c.3410A>G (p.Glu1137Gly) c.431A>G (p.Glu144Gly) c.530A>G (p.Glu177Gly) c.7430A>G (p.Glu2477Gly) c.199A>G (n.199A>G) c.7427A>G (p.Glu2476Gly) c.7439A>G (p.Glu2480Gly) c.7418A>G (p.Glu2473Gly) c.7073A>G (p.Glu2358Gly) c.3419A>G (p.Glu1140Gly) c.7313A>G (p.Glu2438Gly) c.7304A>G (p.Glu2435Gly) c.7319A>G (p.Glu2440Gly) c.1616A>G (p.Glu539Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31774060T>G | CA412658921 | DMD | c.2288A>C (p.Glu763Ala) c.62A>C (p.Glu21Ala) n.1103A>C n.1025A>C n.934A>C c.7442A>C (p.Glu2481Ala) c.3410A>C (p.Glu1137Ala) c.431A>C (p.Glu144Ala) c.530A>C (p.Glu177Ala) c.7430A>C (p.Glu2477Ala) c.199A>C (n.199A>C) c.7427A>C (p.Glu2476Ala) c.7439A>C (p.Glu2480Ala) c.7418A>C (p.Glu2473Ala) c.7073A>C (p.Glu2358Ala) c.3419A>C (p.Glu1140Ala) c.7313A>C (p.Glu2438Ala) c.7304A>C (p.Glu2435Ala) c.7319A>C (p.Glu2440Ala) c.1616A>C (p.Glu539Ala) | |
X | g.31774060T= | CA2422548642 | DMD | c.2288A= (p.Glu763=) c.62A= (p.Glu21=) n.1103A= n.1025A= n.934A= c.7442A= (p.Glu2481=) c.3410A= (p.Glu1137=) c.431A= (p.Glu144=) c.530A= (p.Glu177=) c.7430A= (p.Glu2477=) c.199A= (n.199A=) c.7427A= (p.Glu2476=) c.7439A= (p.Glu2480=) c.7418A= (p.Glu2473=) c.7073A= (p.Glu2358=) c.3419A= (p.Glu1140=) c.7313A= (p.Glu2438=) c.7304A= (p.Glu2435=) c.7319A= (p.Glu2440=) c.1616A= (p.Glu539=) | |
X | g.31774061del | CA2695232444 | DMD | c.2287del (p.Glu763AsnfsTer13) c.61del (p.Glu21AsnfsTer13) n.1102del n.1024del n.933del c.7441del (p.Glu2481AsnfsTer13) c.3409del (p.Glu1137AsnfsTer13) c.430del (p.Glu144AsnfsTer13) c.529del (p.Glu177AsnfsTer13) c.7429del (p.Glu2477AsnfsTer13) c.198del (n.198del) c.7426del (p.Glu2476AsnfsTer13) c.7438del (p.Glu2480AsnfsTer13) c.7417del (p.Glu2473AsnfsTer13) c.7072del (p.Glu2358AsnfsTer13) c.3418del (p.Glu1140AsnfsTer13) c.7312del (p.Glu2438AsnfsTer13) c.7303del (p.Glu2435AsnfsTer13) c.7318del (p.Glu2440AsnfsTer13) c.1615del (p.Glu539AsnfsTer13) | |
X | g.31774061C>A | CA412658924 | DMD | c.2287G>T (p.Glu763Ter) c.61G>T (p.Glu21Ter) n.1102G>T n.1024G>T n.933G>T c.7441G>T (p.Glu2481Ter) c.3409G>T (p.Glu1137Ter) c.430G>T (p.Glu144Ter) c.529G>T (p.Glu177Ter) c.7429G>T (p.Glu2477Ter) c.198G>T (n.198G>T) c.7426G>T (p.Glu2476Ter) c.7438G>T (p.Glu2480Ter) c.7417G>T (p.Glu2473Ter) c.7072G>T (p.Glu2358Ter) c.3418G>T (p.Glu1140Ter) c.7312G>T (p.Glu2438Ter) c.7303G>T (p.Glu2435Ter) c.7318G>T (p.Glu2440Ter) c.1615G>T (p.Glu539Ter) | |
X | g.31774061C>G | CA412658922 | DMD | c.2287G>C (p.Glu763Gln) c.61G>C (p.Glu21Gln) n.1102G>C n.1024G>C n.933G>C c.7441G>C (p.Glu2481Gln) c.3409G>C (p.Glu1137Gln) c.430G>C (p.Glu144Gln) c.529G>C (p.Glu177Gln) c.7429G>C (p.Glu2477Gln) c.198G>C (n.198G>C) c.7426G>C (p.Glu2476Gln) c.7438G>C (p.Glu2480Gln) c.7417G>C (p.Glu2473Gln) c.7072G>C (p.Glu2358Gln) c.3418G>C (p.Glu1140Gln) c.7312G>C (p.Glu2438Gln) c.7303G>C (p.Glu2435Gln) c.7318G>C (p.Glu2440Gln) c.1615G>C (p.Glu539Gln) | |
X | g.31774061C>T | CA412658923 | DMD | c.2287G>A (p.Glu763Lys) c.61G>A (p.Glu21Lys) n.1102G>A n.1024G>A n.933G>A c.7441G>A (p.Glu2481Lys) c.3409G>A (p.Glu1137Lys) c.430G>A (p.Glu144Lys) c.529G>A (p.Glu177Lys) c.7429G>A (p.Glu2477Lys) c.198G>A (n.198G>A) c.7426G>A (p.Glu2476Lys) c.7438G>A (p.Glu2480Lys) c.7417G>A (p.Glu2473Lys) c.7072G>A (p.Glu2358Lys) c.3418G>A (p.Glu1140Lys) c.7312G>A (p.Glu2438Lys) c.7303G>A (p.Glu2435Lys) c.7318G>A (p.Glu2440Lys) c.1615G>A (p.Glu539Lys) | COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774062T>A | CA515859345 | DMD | c.2286A>T (p.Thr762=) c.60A>T (p.Thr20=) n.1101A>T n.1023A>T n.932A>T c.7440A>T (p.Thr2480=) c.3408A>T (p.Thr1136=) c.429A>T (p.Thr143=) c.528A>T (p.Thr176=) c.7428A>T (p.Thr2476=) c.197A>T (n.197A>T) c.7425A>T (p.Thr2475=) c.7437A>T (p.Thr2479=) c.7416A>T (p.Thr2472=) c.7071A>T (p.Thr2357=) c.3417A>T (p.Thr1139=) c.7311A>T (p.Thr2437=) c.7302A>T (p.Thr2434=) c.7317A>T (p.Thr2439=) c.1614A>T (p.Thr538=) | |
X | g.31774062T>C | CA515859347 | DMD | c.2286A>G (p.Thr762=) c.60A>G (p.Thr20=) n.1101A>G n.1023A>G n.932A>G c.7440A>G (p.Thr2480=) c.3408A>G (p.Thr1136=) c.429A>G (p.Thr143=) c.528A>G (p.Thr176=) c.7428A>G (p.Thr2476=) c.197A>G (n.197A>G) c.7425A>G (p.Thr2475=) c.7437A>G (p.Thr2479=) c.7416A>G (p.Thr2472=) c.7071A>G (p.Thr2357=) c.3417A>G (p.Thr1139=) c.7311A>G (p.Thr2437=) c.7302A>G (p.Thr2434=) c.7317A>G (p.Thr2439=) c.1614A>G (p.Thr538=) | ClinVar dbSNP gnomAD v4 |
X | g.31774062T>G | CA515859346 | DMD | c.2286A>C (p.Thr762=) c.60A>C (p.Thr20=) n.1101A>C n.1023A>C n.932A>C c.7440A>C (p.Thr2480=) c.3408A>C (p.Thr1136=) c.429A>C (p.Thr143=) c.528A>C (p.Thr176=) c.7428A>C (p.Thr2476=) c.197A>C (n.197A>C) c.7425A>C (p.Thr2475=) c.7437A>C (p.Thr2479=) c.7416A>C (p.Thr2472=) c.7071A>C (p.Thr2357=) c.3417A>C (p.Thr1139=) c.7311A>C (p.Thr2437=) c.7302A>C (p.Thr2434=) c.7317A>C (p.Thr2439=) c.1614A>C (p.Thr538=) | |
X | g.31774063G>A | CA412658925 | DMD | c.2285C>T (p.Thr762Ile) c.59C>T (p.Thr20Ile) n.1100C>T n.1022C>T n.931C>T c.7439C>T (p.Thr2480Ile) c.3407C>T (p.Thr1136Ile) c.428C>T (p.Thr143Ile) c.527C>T (p.Thr176Ile) c.7427C>T (p.Thr2476Ile) c.196C>T (n.196C>T) c.7424C>T (p.Thr2475Ile) c.7436C>T (p.Thr2479Ile) c.7415C>T (p.Thr2472Ile) c.7070C>T (p.Thr2357Ile) c.3416C>T (p.Thr1139Ile) c.7310C>T (p.Thr2437Ile) c.7301C>T (p.Thr2434Ile) c.7316C>T (p.Thr2439Ile) c.1613C>T (p.Thr538Ile) | |
X | g.31774063G>C | CA412658926 | DMD | c.2285C>G (p.Thr762Arg) c.59C>G (p.Thr20Arg) n.1100C>G n.1022C>G n.931C>G c.7439C>G (p.Thr2480Arg) c.3407C>G (p.Thr1136Arg) c.428C>G (p.Thr143Arg) c.527C>G (p.Thr176Arg) c.7427C>G (p.Thr2476Arg) c.196C>G (n.196C>G) c.7424C>G (p.Thr2475Arg) c.7436C>G (p.Thr2479Arg) c.7415C>G (p.Thr2472Arg) c.7070C>G (p.Thr2357Arg) c.3416C>G (p.Thr1139Arg) c.7310C>G (p.Thr2437Arg) c.7301C>G (p.Thr2434Arg) c.7316C>G (p.Thr2439Arg) c.1613C>G (p.Thr538Arg) | |
X | g.31774063G>T | CA412658927 | DMD | c.2285C>A (p.Thr762Lys) c.59C>A (p.Thr20Lys) n.1100C>A n.1022C>A n.931C>A c.7439C>A (p.Thr2480Lys) c.3407C>A (p.Thr1136Lys) c.428C>A (p.Thr143Lys) c.527C>A (p.Thr176Lys) c.7427C>A (p.Thr2476Lys) c.196C>A (n.196C>A) c.7424C>A (p.Thr2475Lys) c.7436C>A (p.Thr2479Lys) c.7415C>A (p.Thr2472Lys) c.7070C>A (p.Thr2357Lys) c.3416C>A (p.Thr1139Lys) c.7310C>A (p.Thr2437Lys) c.7301C>A (p.Thr2434Lys) c.7316C>A (p.Thr2439Lys) c.1613C>A (p.Thr538Lys) | |
X | g.31774064T>A | CA412658928 | DMD | c.2284A>T (p.Thr762Ser) c.58A>T (p.Thr20Ser) n.1099A>T n.1021A>T n.930A>T c.7438A>T (p.Thr2480Ser) c.3406A>T (p.Thr1136Ser) c.427A>T (p.Thr143Ser) c.526A>T (p.Thr176Ser) c.7426A>T (p.Thr2476Ser) c.195A>T (n.195A>T) c.7423A>T (p.Thr2475Ser) c.7435A>T (p.Thr2479Ser) c.7414A>T (p.Thr2472Ser) c.7069A>T (p.Thr2357Ser) c.3415A>T (p.Thr1139Ser) c.7309A>T (p.Thr2437Ser) c.7300A>T (p.Thr2434Ser) c.7315A>T (p.Thr2439Ser) c.1612A>T (p.Thr538Ser) | |
X | g.31774064T>C | CA412658929 | DMD | c.2284A>G (p.Thr762Ala) c.58A>G (p.Thr20Ala) n.1099A>G n.1021A>G n.930A>G c.7438A>G (p.Thr2480Ala) c.3406A>G (p.Thr1136Ala) c.427A>G (p.Thr143Ala) c.526A>G (p.Thr176Ala) c.7426A>G (p.Thr2476Ala) c.195A>G (n.195A>G) c.7423A>G (p.Thr2475Ala) c.7435A>G (p.Thr2479Ala) c.7414A>G (p.Thr2472Ala) c.7069A>G (p.Thr2357Ala) c.3415A>G (p.Thr1139Ala) c.7309A>G (p.Thr2437Ala) c.7300A>G (p.Thr2434Ala) c.7315A>G (p.Thr2439Ala) c.1612A>G (p.Thr538Ala) | dbSNP gnomAD v2 gnomAD v4 |
X | g.31774064T>G | CA412658930 | DMD | c.2284A>C (p.Thr762Pro) c.58A>C (p.Thr20Pro) n.1099A>C n.1021A>C n.930A>C c.7438A>C (p.Thr2480Pro) c.3406A>C (p.Thr1136Pro) c.427A>C (p.Thr143Pro) c.526A>C (p.Thr176Pro) c.7426A>C (p.Thr2476Pro) c.195A>C (n.195A>C) c.7423A>C (p.Thr2475Pro) c.7435A>C (p.Thr2479Pro) c.7414A>C (p.Thr2472Pro) c.7069A>C (p.Thr2357Pro) c.3415A>C (p.Thr1139Pro) c.7309A>C (p.Thr2437Pro) c.7300A>C (p.Thr2434Pro) c.7315A>C (p.Thr2439Pro) c.1612A>C (p.Thr538Pro) | |
X | g.31774064T= | CA2422548643 | DMD | c.2284A= (p.Thr762=) c.58A= (p.Thr20=) n.1099A= n.1021A= n.930A= c.7438A= (p.Thr2480=) c.3406A= (p.Thr1136=) c.427A= (p.Thr143=) c.526A= (p.Thr176=) c.7426A= (p.Thr2476=) c.195A= (n.195A=) c.7423A= (p.Thr2475=) c.7435A= (p.Thr2479=) c.7414A= (p.Thr2472=) c.7069A= (p.Thr2357=) c.3415A= (p.Thr1139=) c.7309A= (p.Thr2437=) c.7300A= (p.Thr2434=) c.7315A= (p.Thr2439=) c.1612A= (p.Thr538=) | |
X | g.31774065C>A | CA412658931 | DMD | c.2283G>T (p.Trp761Cys) c.57G>T (p.Trp19Cys) n.1098G>T n.1020G>T n.929G>T c.7437G>T (p.Trp2479Cys) c.3405G>T (p.Trp1135Cys) c.426G>T (p.Trp142Cys) c.525G>T (p.Trp175Cys) c.7425G>T (p.Trp2475Cys) c.194G>T (n.194G>T) c.7422G>T (p.Trp2474Cys) c.7434G>T (p.Trp2478Cys) c.7413G>T (p.Trp2471Cys) c.7068G>T (p.Trp2356Cys) c.3414G>T (p.Trp1138Cys) c.7308G>T (p.Trp2436Cys) c.7299G>T (p.Trp2433Cys) c.7314G>T (p.Trp2438Cys) c.1611G>T (p.Trp537Cys) | |
X | g.31774065C>G | CA412658932 | DMD | c.2283G>C (p.Trp761Cys) c.57G>C (p.Trp19Cys) n.1098G>C n.1020G>C n.929G>C c.7437G>C (p.Trp2479Cys) c.3405G>C (p.Trp1135Cys) c.426G>C (p.Trp142Cys) c.525G>C (p.Trp175Cys) c.7425G>C (p.Trp2475Cys) c.194G>C (n.194G>C) c.7422G>C (p.Trp2474Cys) c.7434G>C (p.Trp2478Cys) c.7413G>C (p.Trp2471Cys) c.7068G>C (p.Trp2356Cys) c.3414G>C (p.Trp1138Cys) c.7308G>C (p.Trp2436Cys) c.7299G>C (p.Trp2433Cys) c.7314G>C (p.Trp2438Cys) c.1611G>C (p.Trp537Cys) | |
X | g.31774065C>T | CA412658933 | DMD | c.2283G>A (p.Trp761Ter) c.57G>A (p.Trp19Ter) n.1098G>A n.1020G>A n.929G>A c.7437G>A (p.Trp2479Ter) c.3405G>A (p.Trp1135Ter) c.426G>A (p.Trp142Ter) c.525G>A (p.Trp175Ter) c.7425G>A (p.Trp2475Ter) c.194G>A (n.194G>A) c.7422G>A (p.Trp2474Ter) c.7434G>A (p.Trp2478Ter) c.7413G>A (p.Trp2471Ter) c.7068G>A (p.Trp2356Ter) c.3414G>A (p.Trp1138Ter) c.7308G>A (p.Trp2436Ter) c.7299G>A (p.Trp2433Ter) c.7314G>A (p.Trp2438Ter) c.1611G>A (p.Trp537Ter) | ClinVar dbSNP |
X | g.31774066C>A | CA412658934 | DMD | c.2282G>T (p.Trp761Leu) c.56G>T (p.Trp19Leu) n.1097G>T n.1019G>T n.928G>T c.7436G>T (p.Trp2479Leu) c.3404G>T (p.Trp1135Leu) c.425G>T (p.Trp142Leu) c.524G>T (p.Trp175Leu) c.7424G>T (p.Trp2475Leu) c.193G>T (n.193G>T) c.7421G>T (p.Trp2474Leu) c.7433G>T (p.Trp2478Leu) c.7412G>T (p.Trp2471Leu) c.7067G>T (p.Trp2356Leu) c.3413G>T (p.Trp1138Leu) c.7307G>T (p.Trp2436Leu) c.7298G>T (p.Trp2433Leu) c.7313G>T (p.Trp2438Leu) c.1610G>T (p.Trp537Leu) | |
X | g.31774066C>G | CA412658935 | DMD | c.2282G>C (p.Trp761Ser) c.56G>C (p.Trp19Ser) n.1097G>C n.1019G>C n.928G>C c.7436G>C (p.Trp2479Ser) c.3404G>C (p.Trp1135Ser) c.425G>C (p.Trp142Ser) c.524G>C (p.Trp175Ser) c.7424G>C (p.Trp2475Ser) c.193G>C (n.193G>C) c.7421G>C (p.Trp2474Ser) c.7433G>C (p.Trp2478Ser) c.7412G>C (p.Trp2471Ser) c.7067G>C (p.Trp2356Ser) c.3413G>C (p.Trp1138Ser) c.7307G>C (p.Trp2436Ser) c.7298G>C (p.Trp2433Ser) c.7313G>C (p.Trp2438Ser) c.1610G>C (p.Trp537Ser) | |
X | g.31774066C>T | CA412658936 | DMD | c.2282G>A (p.Trp761Ter) c.56G>A (p.Trp19Ter) n.1097G>A n.1019G>A n.928G>A c.7436G>A (p.Trp2479Ter) c.3404G>A (p.Trp1135Ter) c.425G>A (p.Trp142Ter) c.524G>A (p.Trp175Ter) c.7424G>A (p.Trp2475Ter) c.193G>A (n.193G>A) c.7421G>A (p.Trp2474Ter) c.7433G>A (p.Trp2478Ter) c.7412G>A (p.Trp2471Ter) c.7067G>A (p.Trp2356Ter) c.3413G>A (p.Trp1138Ter) c.7307G>A (p.Trp2436Ter) c.7298G>A (p.Trp2433Ter) c.7313G>A (p.Trp2438Ter) c.1610G>A (p.Trp537Ter) | |
X | g.31774067A= | CA2422548644 | DMD | c.2281T= (p.Trp761=) c.55T= (p.Trp19=) n.1096T= n.1018T= n.927T= c.7435T= (p.Trp2479=) c.3403T= (p.Trp1135=) c.424T= (p.Trp142=) c.523T= (p.Trp175=) c.7423T= (p.Trp2475=) c.192T= (n.192T=) c.7420T= (p.Trp2474=) c.7432T= (p.Trp2478=) c.7411T= (p.Trp2471=) c.7066T= (p.Trp2356=) c.3412T= (p.Trp1138=) c.7306T= (p.Trp2436=) c.7297T= (p.Trp2433=) c.7312T= (p.Trp2438=) c.1609T= (p.Trp537=) | |
X | g.31774067A>C | CA412658939 | DMD | c.2281T>G (p.Trp761Gly) c.55T>G (p.Trp19Gly) n.1096T>G n.1018T>G n.927T>G c.7435T>G (p.Trp2479Gly) c.3403T>G (p.Trp1135Gly) c.424T>G (p.Trp142Gly) c.523T>G (p.Trp175Gly) c.7423T>G (p.Trp2475Gly) c.192T>G (n.192T>G) c.7420T>G (p.Trp2474Gly) c.7432T>G (p.Trp2478Gly) c.7411T>G (p.Trp2471Gly) c.7066T>G (p.Trp2356Gly) c.3412T>G (p.Trp1138Gly) c.7306T>G (p.Trp2436Gly) c.7297T>G (p.Trp2433Gly) c.7312T>G (p.Trp2438Gly) c.1609T>G (p.Trp537Gly) | |
X | g.31774067A>G | CA412658938 | DMD | c.2281T>C (p.Trp761Arg) c.55T>C (p.Trp19Arg) n.1096T>C n.1018T>C n.927T>C c.7435T>C (p.Trp2479Arg) c.3403T>C (p.Trp1135Arg) c.424T>C (p.Trp142Arg) c.523T>C (p.Trp175Arg) c.7423T>C (p.Trp2475Arg) c.192T>C (n.192T>C) c.7420T>C (p.Trp2474Arg) c.7432T>C (p.Trp2478Arg) c.7411T>C (p.Trp2471Arg) c.7066T>C (p.Trp2356Arg) c.3412T>C (p.Trp1138Arg) c.7306T>C (p.Trp2436Arg) c.7297T>C (p.Trp2433Arg) c.7312T>C (p.Trp2438Arg) c.1609T>C (p.Trp537Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.31774067A>T | CA412658937 | DMD | c.2281T>A (p.Trp761Arg) c.55T>A (p.Trp19Arg) n.1096T>A n.1018T>A n.927T>A c.7435T>A (p.Trp2479Arg) c.3403T>A (p.Trp1135Arg) c.424T>A (p.Trp142Arg) c.523T>A (p.Trp175Arg) c.7423T>A (p.Trp2475Arg) c.192T>A (n.192T>A) c.7420T>A (p.Trp2474Arg) c.7432T>A (p.Trp2478Arg) c.7411T>A (p.Trp2471Arg) c.7066T>A (p.Trp2356Arg) c.3412T>A (p.Trp1138Arg) c.7306T>A (p.Trp2436Arg) c.7297T>A (p.Trp2433Arg) c.7312T>A (p.Trp2438Arg) c.1609T>A (p.Trp537Arg) | |
X | g.31774068A>C | CA515859348 | DMD | c.2280T>G (p.Ala760=) c.54T>G (p.Ala18=) n.1095T>G n.1017T>G n.926T>G c.7434T>G (p.Ala2478=) c.3402T>G (p.Ala1134=) c.423T>G (p.Ala141=) c.522T>G (p.Ala174=) c.7422T>G (p.Ala2474=) c.191T>G (n.191T>G) c.7419T>G (p.Ala2473=) c.7431T>G (p.Ala2477=) c.7410T>G (p.Ala2470=) c.7065T>G (p.Ala2355=) c.3411T>G (p.Ala1137=) c.7305T>G (p.Ala2435=) c.7296T>G (p.Ala2432=) c.7311T>G (p.Ala2437=) c.1608T>G (p.Ala536=) | |
X | g.31774068A>G | CA515859349 | DMD | c.2280T>C (p.Ala760=) c.54T>C (p.Ala18=) n.1095T>C n.1017T>C n.926T>C c.7434T>C (p.Ala2478=) c.3402T>C (p.Ala1134=) c.423T>C (p.Ala141=) c.522T>C (p.Ala174=) c.7422T>C (p.Ala2474=) c.191T>C (n.191T>C) c.7419T>C (p.Ala2473=) c.7431T>C (p.Ala2477=) c.7410T>C (p.Ala2470=) c.7065T>C (p.Ala2355=) c.3411T>C (p.Ala1137=) c.7305T>C (p.Ala2435=) c.7296T>C (p.Ala2432=) c.7311T>C (p.Ala2437=) c.1608T>C (p.Ala536=) | COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774068A>T | CA515859350 | DMD | c.2280T>A (p.Ala760=) c.54T>A (p.Ala18=) n.1095T>A n.1017T>A n.926T>A c.7434T>A (p.Ala2478=) c.3402T>A (p.Ala1134=) c.423T>A (p.Ala141=) c.522T>A (p.Ala174=) c.7422T>A (p.Ala2474=) c.191T>A (n.191T>A) c.7419T>A (p.Ala2473=) c.7431T>A (p.Ala2477=) c.7410T>A (p.Ala2470=) c.7065T>A (p.Ala2355=) c.3411T>A (p.Ala1137=) c.7305T>A (p.Ala2435=) c.7296T>A (p.Ala2432=) c.7311T>A (p.Ala2437=) c.1608T>A (p.Ala536=) | |
X | g.31774068_31774071delinsTG | CA2695232446 | DMD | c.2277_2280delinsCA (p.Ala760MetfsTer12) c.51_54delinsCA (p.Ala18MetfsTer12) n.1092_1095delinsCA n.1014_1017delinsCA n.923_926delinsCA c.7431_7434delinsCA (p.Ala2478MetfsTer12) c.3399_3402delinsCA (p.Ala1134MetfsTer12) c.420_423delinsCA (p.Ala141MetfsTer12) c.519_522delinsCA (p.Ala174MetfsTer12) c.7419_7422delinsCA (p.Ala2474MetfsTer12) c.188_191delinsCA (n.188_191delinsCA) c.7416_7419delinsCA (p.Ala2473MetfsTer12) c.7428_7431delinsCA (p.Ala2477MetfsTer12) c.7407_7410delinsCA (p.Ala2470MetfsTer12) c.7062_7065delinsCA (p.Ala2355MetfsTer12) c.3408_3411delinsCA (p.Ala1137MetfsTer12) c.7302_7305delinsCA (p.Ala2435MetfsTer12) c.7293_7296delinsCA (p.Ala2432MetfsTer12) c.7308_7311delinsCA (p.Ala2437MetfsTer12) c.1605_1608delinsCA (p.Ala536MetfsTer12) | |
X | g.31774069G>A | CA328470493 | DMD | c.2279C>T (p.Ala760Val) c.53C>T (p.Ala18Val) n.1094C>T n.1016C>T n.925C>T c.7433C>T (p.Ala2478Val) c.3401C>T (p.Ala1134Val) c.422C>T (p.Ala141Val) c.521C>T (p.Ala174Val) c.7421C>T (p.Ala2474Val) c.190C>T (n.190C>T) c.7418C>T (p.Ala2473Val) c.7430C>T (p.Ala2477Val) c.7409C>T (p.Ala2470Val) c.7064C>T (p.Ala2355Val) c.3410C>T (p.Ala1137Val) c.7304C>T (p.Ala2435Val) c.7295C>T (p.Ala2432Val) c.7310C>T (p.Ala2437Val) c.1607C>T (p.Ala536Val) | dbSNP gnomAD v4 |
X | g.31774069G>C | CA412658940 | DMD | c.2279C>G (p.Ala760Gly) c.53C>G (p.Ala18Gly) n.1094C>G n.1016C>G n.925C>G c.7433C>G (p.Ala2478Gly) c.3401C>G (p.Ala1134Gly) c.422C>G (p.Ala141Gly) c.521C>G (p.Ala174Gly) c.7421C>G (p.Ala2474Gly) c.190C>G (n.190C>G) c.7418C>G (p.Ala2473Gly) c.7430C>G (p.Ala2477Gly) c.7409C>G (p.Ala2470Gly) c.7064C>G (p.Ala2355Gly) c.3410C>G (p.Ala1137Gly) c.7304C>G (p.Ala2435Gly) c.7295C>G (p.Ala2432Gly) c.7310C>G (p.Ala2437Gly) c.1607C>G (p.Ala536Gly) | |
X | g.31774069G= | CA2422548645 | DMD | c.2279C= (p.Ala760=) c.53C= (p.Ala18=) n.1094C= n.1016C= n.925C= c.7433C= (p.Ala2478=) c.3401C= (p.Ala1134=) c.422C= (p.Ala141=) c.521C= (p.Ala174=) c.7421C= (p.Ala2474=) c.190C= (n.190C=) c.7418C= (p.Ala2473=) c.7430C= (p.Ala2477=) c.7409C= (p.Ala2470=) c.7064C= (p.Ala2355=) c.3410C= (p.Ala1137=) c.7304C= (p.Ala2435=) c.7295C= (p.Ala2432=) c.7310C= (p.Ala2437=) c.1607C= (p.Ala536=) | |
X | g.31774069G>T | CA412658941 | DMD | c.2279C>A (p.Ala760Asp) c.53C>A (p.Ala18Asp) n.1094C>A n.1016C>A n.925C>A c.7433C>A (p.Ala2478Asp) c.3401C>A (p.Ala1134Asp) c.422C>A (p.Ala141Asp) c.521C>A (p.Ala174Asp) c.7421C>A (p.Ala2474Asp) c.190C>A (n.190C>A) c.7418C>A (p.Ala2473Asp) c.7430C>A (p.Ala2477Asp) c.7409C>A (p.Ala2470Asp) c.7064C>A (p.Ala2355Asp) c.3410C>A (p.Ala1137Asp) c.7304C>A (p.Ala2435Asp) c.7295C>A (p.Ala2432Asp) c.7310C>A (p.Ala2437Asp) c.1607C>A (p.Ala536Asp) | |
X | g.31774070C>A | CA412658942 | DMD | c.2278G>T (p.Ala760Ser) c.52G>T (p.Ala18Ser) n.1093G>T n.1015G>T n.924G>T c.7432G>T (p.Ala2478Ser) c.3400G>T (p.Ala1134Ser) c.421G>T (p.Ala141Ser) c.520G>T (p.Ala174Ser) c.7420G>T (p.Ala2474Ser) c.189G>T (n.189G>T) c.7417G>T (p.Ala2473Ser) c.7429G>T (p.Ala2477Ser) c.7408G>T (p.Ala2470Ser) c.7063G>T (p.Ala2355Ser) c.3409G>T (p.Ala1137Ser) c.7303G>T (p.Ala2435Ser) c.7294G>T (p.Ala2432Ser) c.7309G>T (p.Ala2437Ser) c.1606G>T (p.Ala536Ser) | dbSNP gnomAD v3 gnomAD v4 |
X | g.31774070C= | CA2422548646 | DMD | c.2278G= (p.Ala760=) c.52G= (p.Ala18=) n.1093G= n.1015G= n.924G= c.7432G= (p.Ala2478=) c.3400G= (p.Ala1134=) c.421G= (p.Ala141=) c.520G= (p.Ala174=) c.7420G= (p.Ala2474=) c.189G= (n.189G=) c.7417G= (p.Ala2473=) c.7429G= (p.Ala2477=) c.7408G= (p.Ala2470=) c.7063G= (p.Ala2355=) c.3409G= (p.Ala1137=) c.7303G= (p.Ala2435=) c.7294G= (p.Ala2432=) c.7309G= (p.Ala2437=) c.1606G= (p.Ala536=) | |
X | g.31774070C>G | CA412658943 | DMD | c.2278G>C (p.Ala760Pro) c.52G>C (p.Ala18Pro) n.1093G>C n.1015G>C n.924G>C c.7432G>C (p.Ala2478Pro) c.3400G>C (p.Ala1134Pro) c.421G>C (p.Ala141Pro) c.520G>C (p.Ala174Pro) c.7420G>C (p.Ala2474Pro) c.189G>C (n.189G>C) c.7417G>C (p.Ala2473Pro) c.7429G>C (p.Ala2477Pro) c.7408G>C (p.Ala2470Pro) c.7063G>C (p.Ala2355Pro) c.3409G>C (p.Ala1137Pro) c.7303G>C (p.Ala2435Pro) c.7294G>C (p.Ala2432Pro) c.7309G>C (p.Ala2437Pro) c.1606G>C (p.Ala536Pro) | gnomAD v4 |
X | g.31774070C>T | CA412658944 | DMD | c.2278G>A (p.Ala760Thr) c.52G>A (p.Ala18Thr) n.1093G>A n.1015G>A n.924G>A c.7432G>A (p.Ala2478Thr) c.3400G>A (p.Ala1134Thr) c.421G>A (p.Ala141Thr) c.520G>A (p.Ala174Thr) c.7420G>A (p.Ala2474Thr) c.189G>A (n.189G>A) c.7417G>A (p.Ala2473Thr) c.7429G>A (p.Ala2477Thr) c.7408G>A (p.Ala2470Thr) c.7063G>A (p.Ala2355Thr) c.3409G>A (p.Ala1137Thr) c.7303G>A (p.Ala2435Thr) c.7294G>A (p.Ala2432Thr) c.7309G>A (p.Ala2437Thr) c.1606G>A (p.Ala536Thr) | gnomAD v4 |
X | g.31774071C>A | CA515859353 | DMD | c.2277G>T (p.Arg759=) c.51G>T (p.Arg17=) n.1092G>T n.1014G>T n.923G>T c.7431G>T (p.Arg2477=) c.3399G>T (p.Arg1133=) c.420G>T (p.Arg140=) c.519G>T (p.Arg173=) c.7419G>T (p.Arg2473=) c.188G>T (n.188G>T) c.7416G>T (p.Arg2472=) c.7428G>T (p.Arg2476=) c.7407G>T (p.Arg2469=) c.7062G>T (p.Arg2354=) c.3408G>T (p.Arg1136=) c.7302G>T (p.Arg2434=) c.7293G>T (p.Arg2431=) c.7308G>T (p.Arg2436=) c.1605G>T (p.Arg535=) | |
X | g.31774071C>G | CA515859352 | DMD | c.2277G>C (p.Arg759=) c.51G>C (p.Arg17=) n.1092G>C n.1014G>C n.923G>C c.7431G>C (p.Arg2477=) c.3399G>C (p.Arg1133=) c.420G>C (p.Arg140=) c.519G>C (p.Arg173=) c.7419G>C (p.Arg2473=) c.188G>C (n.188G>C) c.7416G>C (p.Arg2472=) c.7428G>C (p.Arg2476=) c.7407G>C (p.Arg2469=) c.7062G>C (p.Arg2354=) c.3408G>C (p.Arg1136=) c.7302G>C (p.Arg2434=) c.7293G>C (p.Arg2431=) c.7308G>C (p.Arg2436=) c.1605G>C (p.Arg535=) | |
X | g.31774071C>T | CA515859351 | DMD | c.2277G>A (p.Arg759=) c.51G>A (p.Arg17=) n.1092G>A n.1014G>A n.923G>A c.7431G>A (p.Arg2477=) c.3399G>A (p.Arg1133=) c.420G>A (p.Arg140=) c.519G>A (p.Arg173=) c.7419G>A (p.Arg2473=) c.188G>A (n.188G>A) c.7416G>A (p.Arg2472=) c.7428G>A (p.Arg2476=) c.7407G>A (p.Arg2469=) c.7062G>A (p.Arg2354=) c.3408G>A (p.Arg1136=) c.7302G>A (p.Arg2434=) c.7293G>A (p.Arg2431=) c.7308G>A (p.Arg2436=) c.1605G>A (p.Arg535=) | ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774072C>A | CA412658945 | DMD | c.2276G>T (p.Arg759Leu) c.50G>T (p.Arg17Leu) n.1091G>T n.1013G>T n.922G>T c.7430G>T (p.Arg2477Leu) c.3398G>T (p.Arg1133Leu) c.419G>T (p.Arg140Leu) c.518G>T (p.Arg173Leu) c.7418G>T (p.Arg2473Leu) c.187G>T (n.187G>T) c.7415G>T (p.Arg2472Leu) c.7427G>T (p.Arg2476Leu) c.7406G>T (p.Arg2469Leu) c.7061G>T (p.Arg2354Leu) c.3407G>T (p.Arg1136Leu) c.7301G>T (p.Arg2434Leu) c.7292G>T (p.Arg2431Leu) c.7307G>T (p.Arg2436Leu) c.1604G>T (p.Arg535Leu) | |
X | g.31774072C= | CA2422548647 | DMD | c.2276G= (p.Arg759=) c.50G= (p.Arg17=) n.1091G= n.1013G= n.922G= c.7430G= (p.Arg2477=) c.3398G= (p.Arg1133=) c.419G= (p.Arg140=) c.518G= (p.Arg173=) c.7418G= (p.Arg2473=) c.187G= (n.187G=) c.7415G= (p.Arg2472=) c.7427G= (p.Arg2476=) c.7406G= (p.Arg2469=) c.7061G= (p.Arg2354=) c.3407G= (p.Arg1136=) c.7301G= (p.Arg2434=) c.7292G= (p.Arg2431=) c.7307G= (p.Arg2436=) c.1604G= (p.Arg535=) | |
X | g.31774072C>G | CA412658946 | DMD | c.2276G>C (p.Arg759Pro) c.50G>C (p.Arg17Pro) n.1091G>C n.1013G>C n.922G>C c.7430G>C (p.Arg2477Pro) c.3398G>C (p.Arg1133Pro) c.419G>C (p.Arg140Pro) c.518G>C (p.Arg173Pro) c.7418G>C (p.Arg2473Pro) c.187G>C (n.187G>C) c.7415G>C (p.Arg2472Pro) c.7427G>C (p.Arg2476Pro) c.7406G>C (p.Arg2469Pro) c.7061G>C (p.Arg2354Pro) c.3407G>C (p.Arg1136Pro) c.7301G>C (p.Arg2434Pro) c.7292G>C (p.Arg2431Pro) c.7307G>C (p.Arg2436Pro) c.1604G>C (p.Arg535Pro) | |
X | g.31774072C>T | CA10378278 | DMD | c.2276G>A (p.Arg759Gln) c.50G>A (p.Arg17Gln) n.1091G>A n.1013G>A n.922G>A c.7430G>A (p.Arg2477Gln) c.3398G>A (p.Arg1133Gln) c.419G>A (p.Arg140Gln) c.518G>A (p.Arg173Gln) c.7418G>A (p.Arg2473Gln) c.187G>A (n.187G>A) c.7415G>A (p.Arg2472Gln) c.7427G>A (p.Arg2476Gln) c.7406G>A (p.Arg2469Gln) c.7061G>A (p.Arg2354Gln) c.3407G>A (p.Arg1136Gln) c.7301G>A (p.Arg2434Gln) c.7292G>A (p.Arg2431Gln) c.7307G>A (p.Arg2436Gln) c.1604G>A (p.Arg535Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774073G>A | CA10378279 | DMD | c.2275C>T (p.Arg759Trp) c.49C>T (p.Arg17Trp) n.1090C>T n.1012C>T n.921C>T c.7429C>T (p.Arg2477Trp) c.3397C>T (p.Arg1133Trp) c.418C>T (p.Arg140Trp) c.517C>T (p.Arg173Trp) c.7417C>T (p.Arg2473Trp) c.186C>T (n.186C>T) c.7414C>T (p.Arg2472Trp) c.7426C>T (p.Arg2476Trp) c.7405C>T (p.Arg2469Trp) c.7060C>T (p.Arg2354Trp) c.3406C>T (p.Arg1136Trp) c.7300C>T (p.Arg2434Trp) c.7291C>T (p.Arg2431Trp) c.7306C>T (p.Arg2436Trp) c.1603C>T (p.Arg535Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774073G>C | CA412658947 | DMD | c.2275C>G (p.Arg759Gly) c.49C>G (p.Arg17Gly) n.1090C>G n.1012C>G n.921C>G c.7429C>G (p.Arg2477Gly) c.3397C>G (p.Arg1133Gly) c.418C>G (p.Arg140Gly) c.517C>G (p.Arg173Gly) c.7417C>G (p.Arg2473Gly) c.186C>G (n.186C>G) c.7414C>G (p.Arg2472Gly) c.7426C>G (p.Arg2476Gly) c.7405C>G (p.Arg2469Gly) c.7060C>G (p.Arg2354Gly) c.3406C>G (p.Arg1136Gly) c.7300C>G (p.Arg2434Gly) c.7291C>G (p.Arg2431Gly) c.7306C>G (p.Arg2436Gly) c.1603C>G (p.Arg535Gly) | |
X | g.31774073G= | CA2422548648 | DMD | c.2275C= (p.Arg759=) c.49C= (p.Arg17=) n.1090C= n.1012C= n.921C= c.7429C= (p.Arg2477=) c.3397C= (p.Arg1133=) c.418C= (p.Arg140=) c.517C= (p.Arg173=) c.7417C= (p.Arg2473=) c.186C= (n.186C=) c.7414C= (p.Arg2472=) c.7426C= (p.Arg2476=) c.7405C= (p.Arg2469=) c.7060C= (p.Arg2354=) c.3406C= (p.Arg1136=) c.7300C= (p.Arg2434=) c.7291C= (p.Arg2431=) c.7306C= (p.Arg2436=) c.1603C= (p.Arg535=) | |
X | g.31774073G>T | CA515859354 | DMD | c.2275C>A (p.Arg759=) c.49C>A (p.Arg17=) n.1090C>A n.1012C>A n.921C>A c.7429C>A (p.Arg2477=) c.3397C>A (p.Arg1133=) c.418C>A (p.Arg140=) c.517C>A (p.Arg173=) c.7417C>A (p.Arg2473=) c.186C>A (n.186C>A) c.7414C>A (p.Arg2472=) c.7426C>A (p.Arg2476=) c.7405C>A (p.Arg2469=) c.7060C>A (p.Arg2354=) c.3406C>A (p.Arg1136=) c.7300C>A (p.Arg2434=) c.7291C>A (p.Arg2431=) c.7306C>A (p.Arg2436=) c.1603C>A (p.Arg535=) | |
X | g.31774074G>A | CA515859355 | DMD | c.2274C>T (p.Asn758=) c.48C>T (p.Asn16=) n.1089C>T n.1011C>T n.920C>T c.7428C>T (p.Asn2476=) c.3396C>T (p.Asn1132=) c.417C>T (p.Asn139=) c.516C>T (p.Asn172=) c.7416C>T (p.Asn2472=) c.185C>T (n.185C>T) c.7413C>T (p.Asn2471=) c.7425C>T (p.Asn2475=) c.7404C>T (p.Asn2468=) c.7059C>T (p.Asn2353=) c.3405C>T (p.Asn1135=) c.7299C>T (p.Asn2433=) c.7290C>T (p.Asn2430=) c.7305C>T (p.Asn2435=) c.1602C>T (p.Asn534=) | |
X | g.31774074G>C | CA412658948 | DMD | c.2274C>G (p.Asn758Lys) c.48C>G (p.Asn16Lys) n.1089C>G n.1011C>G n.920C>G c.7428C>G (p.Asn2476Lys) c.3396C>G (p.Asn1132Lys) c.417C>G (p.Asn139Lys) c.516C>G (p.Asn172Lys) c.7416C>G (p.Asn2472Lys) c.185C>G (n.185C>G) c.7413C>G (p.Asn2471Lys) c.7425C>G (p.Asn2475Lys) c.7404C>G (p.Asn2468Lys) c.7059C>G (p.Asn2353Lys) c.3405C>G (p.Asn1135Lys) c.7299C>G (p.Asn2433Lys) c.7290C>G (p.Asn2430Lys) c.7305C>G (p.Asn2435Lys) c.1602C>G (p.Asn534Lys) | gnomAD v4 |
X | g.31774074G>T | CA412658949 | DMD | c.2274C>A (p.Asn758Lys) c.48C>A (p.Asn16Lys) n.1089C>A n.1011C>A n.920C>A c.7428C>A (p.Asn2476Lys) c.3396C>A (p.Asn1132Lys) c.417C>A (p.Asn139Lys) c.516C>A (p.Asn172Lys) c.7416C>A (p.Asn2472Lys) c.185C>A (n.185C>A) c.7413C>A (p.Asn2471Lys) c.7425C>A (p.Asn2475Lys) c.7404C>A (p.Asn2468Lys) c.7059C>A (p.Asn2353Lys) c.3405C>A (p.Asn1135Lys) c.7299C>A (p.Asn2433Lys) c.7290C>A (p.Asn2430Lys) c.7305C>A (p.Asn2435Lys) c.1602C>A (p.Asn534Lys) | |
X | g.31774075T>A | CA412658950 | DMD | c.2273A>T (p.Asn758Ile) c.47A>T (p.Asn16Ile) n.1088A>T n.1010A>T n.919A>T c.7427A>T (p.Asn2476Ile) c.3395A>T (p.Asn1132Ile) c.416A>T (p.Asn139Ile) c.515A>T (p.Asn172Ile) c.7415A>T (p.Asn2472Ile) c.184A>T (n.184A>T) c.7412A>T (p.Asn2471Ile) c.7424A>T (p.Asn2475Ile) c.7403A>T (p.Asn2468Ile) c.7058A>T (p.Asn2353Ile) c.3404A>T (p.Asn1135Ile) c.7298A>T (p.Asn2433Ile) c.7289A>T (p.Asn2430Ile) c.7304A>T (p.Asn2435Ile) c.1601A>T (p.Asn534Ile) | |
X | g.31774075T>C | CA10378280 | DMD | c.2273A>G (p.Asn758Ser) c.47A>G (p.Asn16Ser) n.1088A>G n.1010A>G n.919A>G c.7427A>G (p.Asn2476Ser) c.3395A>G (p.Asn1132Ser) c.416A>G (p.Asn139Ser) c.515A>G (p.Asn172Ser) c.7415A>G (p.Asn2472Ser) c.184A>G (n.184A>G) c.7412A>G (p.Asn2471Ser) c.7424A>G (p.Asn2475Ser) c.7403A>G (p.Asn2468Ser) c.7058A>G (p.Asn2353Ser) c.3404A>G (p.Asn1135Ser) c.7298A>G (p.Asn2433Ser) c.7289A>G (p.Asn2430Ser) c.7304A>G (p.Asn2435Ser) c.1601A>G (p.Asn534Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774075T>G | CA412658951 | DMD | c.2273A>C (p.Asn758Thr) c.47A>C (p.Asn16Thr) n.1088A>C n.1010A>C n.919A>C c.7427A>C (p.Asn2476Thr) c.3395A>C (p.Asn1132Thr) c.416A>C (p.Asn139Thr) c.515A>C (p.Asn172Thr) c.7415A>C (p.Asn2472Thr) c.184A>C (n.184A>C) c.7412A>C (p.Asn2471Thr) c.7424A>C (p.Asn2475Thr) c.7403A>C (p.Asn2468Thr) c.7058A>C (p.Asn2353Thr) c.3404A>C (p.Asn1135Thr) c.7298A>C (p.Asn2433Thr) c.7289A>C (p.Asn2430Thr) c.7304A>C (p.Asn2435Thr) c.1601A>C (p.Asn534Thr) | |
X | g.31774075T= | CA2422548649 | DMD | c.2273A= (p.Asn758=) c.47A= (p.Asn16=) n.1088A= n.1010A= n.919A= c.7427A= (p.Asn2476=) c.3395A= (p.Asn1132=) c.416A= (p.Asn139=) c.515A= (p.Asn172=) c.7415A= (p.Asn2472=) c.184A= (n.184A=) c.7412A= (p.Asn2471=) c.7424A= (p.Asn2475=) c.7403A= (p.Asn2468=) c.7058A= (p.Asn2353=) c.3404A= (p.Asn1135=) c.7298A= (p.Asn2433=) c.7289A= (p.Asn2430=) c.7304A= (p.Asn2435=) c.1601A= (p.Asn534=) | |
X | g.31774076del | CA2580100605 | DMD | c.2273del (p.Asn758ThrfsTer18) c.47del (p.Asn16ThrfsTer18) n.1088del n.1010del n.919del c.7427del (p.Asn2476ThrfsTer18) c.3395del (p.Asn1132ThrfsTer18) c.416del (p.Asn139ThrfsTer18) c.515del (p.Asn172ThrfsTer18) c.7415del (p.Asn2472ThrfsTer18) c.184del (n.184del) c.7412del (p.Asn2471ThrfsTer18) c.7424del (p.Asn2475ThrfsTer18) c.7403del (p.Asn2468ThrfsTer18) c.7058del (p.Asn2353ThrfsTer18) c.3404del (p.Asn1135ThrfsTer18) c.7298del (p.Asn2433ThrfsTer18) c.7289del (p.Asn2430ThrfsTer18) c.7304del (p.Asn2435ThrfsTer18) c.1601del (p.Asn534ThrfsTer18) | ClinVar |
X | g.31774076T>A | CA412658952 | DMD | c.2272A>T (p.Asn758Tyr) c.46A>T (p.Asn16Tyr) n.1087A>T n.1009A>T n.918A>T c.7426A>T (p.Asn2476Tyr) c.3394A>T (p.Asn1132Tyr) c.415A>T (p.Asn139Tyr) c.514A>T (p.Asn172Tyr) c.7414A>T (p.Asn2472Tyr) c.183A>T (n.183A>T) c.7411A>T (p.Asn2471Tyr) c.7423A>T (p.Asn2475Tyr) c.7402A>T (p.Asn2468Tyr) c.7057A>T (p.Asn2353Tyr) c.3403A>T (p.Asn1135Tyr) c.7297A>T (p.Asn2433Tyr) c.7288A>T (p.Asn2430Tyr) c.7303A>T (p.Asn2435Tyr) c.1600A>T (p.Asn534Tyr) | |
X | g.31774076T>C | CA412658954 | DMD | c.2272A>G (p.Asn758Asp) c.46A>G (p.Asn16Asp) n.1087A>G n.1009A>G n.918A>G c.7426A>G (p.Asn2476Asp) c.3394A>G (p.Asn1132Asp) c.415A>G (p.Asn139Asp) c.514A>G (p.Asn172Asp) c.7414A>G (p.Asn2472Asp) c.183A>G (n.183A>G) c.7411A>G (p.Asn2471Asp) c.7423A>G (p.Asn2475Asp) c.7402A>G (p.Asn2468Asp) c.7057A>G (p.Asn2353Asp) c.3403A>G (p.Asn1135Asp) c.7297A>G (p.Asn2433Asp) c.7288A>G (p.Asn2430Asp) c.7303A>G (p.Asn2435Asp) c.1600A>G (p.Asn534Asp) | |
X | g.31774076T>G | CA412658953 | DMD | c.2272A>C (p.Asn758His) c.46A>C (p.Asn16His) n.1087A>C n.1009A>C n.918A>C c.7426A>C (p.Asn2476His) c.3394A>C (p.Asn1132His) c.415A>C (p.Asn139His) c.514A>C (p.Asn172His) c.7414A>C (p.Asn2472His) c.183A>C (n.183A>C) c.7411A>C (p.Asn2471His) c.7423A>C (p.Asn2475His) c.7402A>C (p.Asn2468His) c.7057A>C (p.Asn2353His) c.3403A>C (p.Asn1135His) c.7297A>C (p.Asn2433His) c.7288A>C (p.Asn2430His) c.7303A>C (p.Asn2435His) c.1600A>C (p.Asn534His) | |
X | g.31774077del | CA2695232447 | DMD | c.2271del (p.Phe757LeufsTer19) c.45del (p.Phe15LeufsTer19) n.1086del n.1008del n.917del c.7425del (p.Phe2475LeufsTer19) c.3393del (p.Phe1131LeufsTer19) c.414del (p.Phe138LeufsTer19) c.513del (p.Phe171LeufsTer19) c.7413del (p.Phe2471LeufsTer19) c.182del (n.182del) c.7410del (p.Phe2470LeufsTer19) c.7422del (p.Phe2474LeufsTer19) c.7401del (p.Phe2467LeufsTer19) c.7056del (p.Phe2352LeufsTer19) c.3402del (p.Phe1134LeufsTer19) c.7296del (p.Phe2432LeufsTer19) c.7287del (p.Phe2429LeufsTer19) c.7302del (p.Phe2434LeufsTer19) c.1599del (p.Phe533LeufsTer19) | |
X | g.31774077G>A | CA515859356 | DMD | c.2271C>T (p.Phe757=) c.45C>T (p.Phe15=) n.1086C>T n.1008C>T n.917C>T c.7425C>T (p.Phe2475=) c.3393C>T (p.Phe1131=) c.414C>T (p.Phe138=) c.513C>T (p.Phe171=) c.7413C>T (p.Phe2471=) c.182C>T (n.182C>T) c.7410C>T (p.Phe2470=) c.7422C>T (p.Phe2474=) c.7401C>T (p.Phe2467=) c.7056C>T (p.Phe2352=) c.3402C>T (p.Phe1134=) c.7296C>T (p.Phe2432=) c.7287C>T (p.Phe2429=) c.7302C>T (p.Phe2434=) c.1599C>T (p.Phe533=) | |
X | g.31774077G>C | CA412658955 | DMD | c.2271C>G (p.Phe757Leu) c.45C>G (p.Phe15Leu) n.1086C>G n.1008C>G n.917C>G c.7425C>G (p.Phe2475Leu) c.3393C>G (p.Phe1131Leu) c.414C>G (p.Phe138Leu) c.513C>G (p.Phe171Leu) c.7413C>G (p.Phe2471Leu) c.182C>G (n.182C>G) c.7410C>G (p.Phe2470Leu) c.7422C>G (p.Phe2474Leu) c.7401C>G (p.Phe2467Leu) c.7056C>G (p.Phe2352Leu) c.3402C>G (p.Phe1134Leu) c.7296C>G (p.Phe2432Leu) c.7287C>G (p.Phe2429Leu) c.7302C>G (p.Phe2434Leu) c.1599C>G (p.Phe533Leu) | COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774077G>T | CA412658956 | DMD | c.2271C>A (p.Phe757Leu) c.45C>A (p.Phe15Leu) n.1086C>A n.1008C>A n.917C>A c.7425C>A (p.Phe2475Leu) c.3393C>A (p.Phe1131Leu) c.414C>A (p.Phe138Leu) c.513C>A (p.Phe171Leu) c.7413C>A (p.Phe2471Leu) c.182C>A (n.182C>A) c.7410C>A (p.Phe2470Leu) c.7422C>A (p.Phe2474Leu) c.7401C>A (p.Phe2467Leu) c.7056C>A (p.Phe2352Leu) c.3402C>A (p.Phe1134Leu) c.7296C>A (p.Phe2432Leu) c.7287C>A (p.Phe2429Leu) c.7302C>A (p.Phe2434Leu) c.1599C>A (p.Phe533Leu) | gnomAD v4 |
X | g.31774078A= | CA2422548650 | DMD | c.2270T= (p.Phe757=) c.44T= (p.Phe15=) n.1085T= n.1007T= n.916T= c.7424T= (p.Phe2475=) c.3392T= (p.Phe1131=) c.413T= (p.Phe138=) c.512T= (p.Phe171=) c.7412T= (p.Phe2471=) c.181T= (n.181T=) c.7409T= (p.Phe2470=) c.7421T= (p.Phe2474=) c.7400T= (p.Phe2467=) c.7055T= (p.Phe2352=) c.3401T= (p.Phe1134=) c.7295T= (p.Phe2432=) c.7286T= (p.Phe2429=) c.7301T= (p.Phe2434=) c.1598T= (p.Phe533=) | |
X | g.31774078A>C | CA412658957 | DMD | c.2270T>G (p.Phe757Cys) c.44T>G (p.Phe15Cys) n.1085T>G n.1007T>G n.916T>G c.7424T>G (p.Phe2475Cys) c.3392T>G (p.Phe1131Cys) c.413T>G (p.Phe138Cys) c.512T>G (p.Phe171Cys) c.7412T>G (p.Phe2471Cys) c.181T>G (n.181T>G) c.7409T>G (p.Phe2470Cys) c.7421T>G (p.Phe2474Cys) c.7400T>G (p.Phe2467Cys) c.7055T>G (p.Phe2352Cys) c.3401T>G (p.Phe1134Cys) c.7295T>G (p.Phe2432Cys) c.7286T>G (p.Phe2429Cys) c.7301T>G (p.Phe2434Cys) c.1598T>G (p.Phe533Cys) | |
X | g.31774078A>G | CA412658958 | DMD | c.2270T>C (p.Phe757Ser) c.44T>C (p.Phe15Ser) n.1085T>C n.1007T>C n.916T>C c.7424T>C (p.Phe2475Ser) c.3392T>C (p.Phe1131Ser) c.413T>C (p.Phe138Ser) c.512T>C (p.Phe171Ser) c.7412T>C (p.Phe2471Ser) c.181T>C (n.181T>C) c.7409T>C (p.Phe2470Ser) c.7421T>C (p.Phe2474Ser) c.7400T>C (p.Phe2467Ser) c.7055T>C (p.Phe2352Ser) c.3401T>C (p.Phe1134Ser) c.7295T>C (p.Phe2432Ser) c.7286T>C (p.Phe2429Ser) c.7301T>C (p.Phe2434Ser) c.1598T>C (p.Phe533Ser) | |
X | g.31774078A>T | CA412658959 | DMD | c.2270T>A (p.Phe757Tyr) c.44T>A (p.Phe15Tyr) n.1085T>A n.1007T>A n.916T>A c.7424T>A (p.Phe2475Tyr) c.3392T>A (p.Phe1131Tyr) c.413T>A (p.Phe138Tyr) c.512T>A (p.Phe171Tyr) c.7412T>A (p.Phe2471Tyr) c.181T>A (n.181T>A) c.7409T>A (p.Phe2470Tyr) c.7421T>A (p.Phe2474Tyr) c.7400T>A (p.Phe2467Tyr) c.7055T>A (p.Phe2352Tyr) c.3401T>A (p.Phe1134Tyr) c.7295T>A (p.Phe2432Tyr) c.7286T>A (p.Phe2429Tyr) c.7301T>A (p.Phe2434Tyr) c.1598T>A (p.Phe533Tyr) | dbSNP |
X | g.31774079A>C | CA412658960 | DMD | c.2269T>G (p.Phe757Val) c.43T>G (p.Phe15Val) n.1084T>G n.1006T>G n.915T>G c.7423T>G (p.Phe2475Val) c.3391T>G (p.Phe1131Val) c.412T>G (p.Phe138Val) c.511T>G (p.Phe171Val) c.7411T>G (p.Phe2471Val) c.180T>G (n.180T>G) c.7408T>G (p.Phe2470Val) c.7420T>G (p.Phe2474Val) c.7399T>G (p.Phe2467Val) c.7054T>G (p.Phe2352Val) c.3400T>G (p.Phe1134Val) c.7294T>G (p.Phe2432Val) c.7285T>G (p.Phe2429Val) c.7300T>G (p.Phe2434Val) c.1597T>G (p.Phe533Val) | |
X | g.31774079A>G | CA412658961 | DMD | c.2269T>C (p.Phe757Leu) c.43T>C (p.Phe15Leu) n.1084T>C n.1006T>C n.915T>C c.7423T>C (p.Phe2475Leu) c.3391T>C (p.Phe1131Leu) c.412T>C (p.Phe138Leu) c.511T>C (p.Phe171Leu) c.7411T>C (p.Phe2471Leu) c.180T>C (n.180T>C) c.7408T>C (p.Phe2470Leu) c.7420T>C (p.Phe2474Leu) c.7399T>C (p.Phe2467Leu) c.7054T>C (p.Phe2352Leu) c.3400T>C (p.Phe1134Leu) c.7294T>C (p.Phe2432Leu) c.7285T>C (p.Phe2429Leu) c.7300T>C (p.Phe2434Leu) c.1597T>C (p.Phe533Leu) | |
X | g.31774079A>T | CA412658962 | DMD | c.2269T>A (p.Phe757Ile) c.43T>A (p.Phe15Ile) n.1084T>A n.1006T>A n.915T>A c.7423T>A (p.Phe2475Ile) c.3391T>A (p.Phe1131Ile) c.412T>A (p.Phe138Ile) c.511T>A (p.Phe171Ile) c.7411T>A (p.Phe2471Ile) c.180T>A (n.180T>A) c.7408T>A (p.Phe2470Ile) c.7420T>A (p.Phe2474Ile) c.7399T>A (p.Phe2467Ile) c.7054T>A (p.Phe2352Ile) c.3400T>A (p.Phe1134Ile) c.7294T>A (p.Phe2432Ile) c.7285T>A (p.Phe2429Ile) c.7300T>A (p.Phe2434Ile) c.1597T>A (p.Phe533Ile) | |
X | g.31774080A>C | CA412658963 | DMD | c.2268T>G (p.Asp756Glu) c.42T>G (p.Asp14Glu) n.1083T>G n.1005T>G n.914T>G c.7422T>G (p.Asp2474Glu) c.3390T>G (p.Asp1130Glu) c.411T>G (p.Asp137Glu) c.510T>G (p.Asp170Glu) c.7410T>G (p.Asp2470Glu) c.179T>G (n.179T>G) c.7407T>G (p.Asp2469Glu) c.7419T>G (p.Asp2473Glu) c.7398T>G (p.Asp2466Glu) c.7053T>G (p.Asp2351Glu) c.3399T>G (p.Asp1133Glu) c.7293T>G (p.Asp2431Glu) c.7284T>G (p.Asp2428Glu) c.7299T>G (p.Asp2433Glu) c.1596T>G (p.Asp532Glu) | |
X | g.31774080A>G | CA515859357 | DMD | c.2268T>C (p.Asp756=) c.42T>C (p.Asp14=) n.1083T>C n.1005T>C n.914T>C c.7422T>C (p.Asp2474=) c.3390T>C (p.Asp1130=) c.411T>C (p.Asp137=) c.510T>C (p.Asp170=) c.7410T>C (p.Asp2470=) c.179T>C (n.179T>C) c.7407T>C (p.Asp2469=) c.7419T>C (p.Asp2473=) c.7398T>C (p.Asp2466=) c.7053T>C (p.Asp2351=) c.3399T>C (p.Asp1133=) c.7293T>C (p.Asp2431=) c.7284T>C (p.Asp2428=) c.7299T>C (p.Asp2433=) c.1596T>C (p.Asp532=) | |
X | g.31774080A>T | CA412658964 | DMD | c.2268T>A (p.Asp756Glu) c.42T>A (p.Asp14Glu) n.1083T>A n.1005T>A n.914T>A c.7422T>A (p.Asp2474Glu) c.3390T>A (p.Asp1130Glu) c.411T>A (p.Asp137Glu) c.510T>A (p.Asp170Glu) c.7410T>A (p.Asp2470Glu) c.179T>A (n.179T>A) c.7407T>A (p.Asp2469Glu) c.7419T>A (p.Asp2473Glu) c.7398T>A (p.Asp2466Glu) c.7053T>A (p.Asp2351Glu) c.3399T>A (p.Asp1133Glu) c.7293T>A (p.Asp2431Glu) c.7284T>A (p.Asp2428Glu) c.7299T>A (p.Asp2433Glu) c.1596T>A (p.Asp532Glu) | |
X | g.31774081T>A | CA412658966 | DMD | c.2267A>T (p.Asp756Val) c.41A>T (p.Asp14Val) n.1082A>T n.1004A>T n.913A>T c.7421A>T (p.Asp2474Val) c.3389A>T (p.Asp1130Val) c.410A>T (p.Asp137Val) c.509A>T (p.Asp170Val) c.7409A>T (p.Asp2470Val) c.178A>T (n.178A>T) c.7406A>T (p.Asp2469Val) c.7418A>T (p.Asp2473Val) c.7397A>T (p.Asp2466Val) c.7052A>T (p.Asp2351Val) c.3398A>T (p.Asp1133Val) c.7292A>T (p.Asp2431Val) c.7283A>T (p.Asp2428Val) c.7298A>T (p.Asp2433Val) c.1595A>T (p.Asp532Val) | |
X | g.31774081T>C | CA412658967 | DMD | c.2267A>G (p.Asp756Gly) c.41A>G (p.Asp14Gly) n.1082A>G n.1004A>G n.913A>G c.7421A>G (p.Asp2474Gly) c.3389A>G (p.Asp1130Gly) c.410A>G (p.Asp137Gly) c.509A>G (p.Asp170Gly) c.7409A>G (p.Asp2470Gly) c.178A>G (n.178A>G) c.7406A>G (p.Asp2469Gly) c.7418A>G (p.Asp2473Gly) c.7397A>G (p.Asp2466Gly) c.7052A>G (p.Asp2351Gly) c.3398A>G (p.Asp1133Gly) c.7292A>G (p.Asp2431Gly) c.7283A>G (p.Asp2428Gly) c.7298A>G (p.Asp2433Gly) c.1595A>G (p.Asp532Gly) | ClinVar dbSNP |
X | g.31774081T>G | CA412658965 | DMD | c.2267A>C (p.Asp756Ala) c.41A>C (p.Asp14Ala) n.1082A>C n.1004A>C n.913A>C c.7421A>C (p.Asp2474Ala) c.3389A>C (p.Asp1130Ala) c.410A>C (p.Asp137Ala) c.509A>C (p.Asp170Ala) c.7409A>C (p.Asp2470Ala) c.178A>C (n.178A>C) c.7406A>C (p.Asp2469Ala) c.7418A>C (p.Asp2473Ala) c.7397A>C (p.Asp2466Ala) c.7052A>C (p.Asp2351Ala) c.3398A>C (p.Asp1133Ala) c.7292A>C (p.Asp2431Ala) c.7283A>C (p.Asp2428Ala) c.7298A>C (p.Asp2433Ala) c.1595A>C (p.Asp532Ala) | |
X | g.31774082C>A | CA412658968 | DMD | c.2266G>T (p.Asp756Tyr) c.40G>T (p.Asp14Tyr) n.1081G>T n.1003G>T n.912G>T c.7420G>T (p.Asp2474Tyr) c.3388G>T (p.Asp1130Tyr) c.409G>T (p.Asp137Tyr) c.508G>T (p.Asp170Tyr) c.7408G>T (p.Asp2470Tyr) c.177G>T (n.177G>T) c.7405G>T (p.Asp2469Tyr) c.7417G>T (p.Asp2473Tyr) c.7396G>T (p.Asp2466Tyr) c.7051G>T (p.Asp2351Tyr) c.3397G>T (p.Asp1133Tyr) c.7291G>T (p.Asp2431Tyr) c.7282G>T (p.Asp2428Tyr) c.7297G>T (p.Asp2433Tyr) c.1594G>T (p.Asp532Tyr) | COSMIC COSMIC COSMIC COSMIC |
X | g.31774082C>G | CA412658969 | DMD | c.2266G>C (p.Asp756His) c.40G>C (p.Asp14His) n.1081G>C n.1003G>C n.912G>C c.7420G>C (p.Asp2474His) c.3388G>C (p.Asp1130His) c.409G>C (p.Asp137His) c.508G>C (p.Asp170His) c.7408G>C (p.Asp2470His) c.177G>C (n.177G>C) c.7405G>C (p.Asp2469His) c.7417G>C (p.Asp2473His) c.7396G>C (p.Asp2466His) c.7051G>C (p.Asp2351His) c.3397G>C (p.Asp1133His) c.7291G>C (p.Asp2431His) c.7282G>C (p.Asp2428His) c.7297G>C (p.Asp2433His) c.1594G>C (p.Asp532His) | |
X | g.31774082C>T | CA412658970 | DMD | c.2266G>A (p.Asp756Asn) c.40G>A (p.Asp14Asn) n.1081G>A n.1003G>A n.912G>A c.7420G>A (p.Asp2474Asn) c.3388G>A (p.Asp1130Asn) c.409G>A (p.Asp137Asn) c.508G>A (p.Asp170Asn) c.7408G>A (p.Asp2470Asn) c.177G>A (n.177G>A) c.7405G>A (p.Asp2469Asn) c.7417G>A (p.Asp2473Asn) c.7396G>A (p.Asp2466Asn) c.7051G>A (p.Asp2351Asn) c.3397G>A (p.Asp1133Asn) c.7291G>A (p.Asp2431Asn) c.7282G>A (p.Asp2428Asn) c.7297G>A (p.Asp2433Asn) c.1594G>A (p.Asp532Asn) | |
X | g.31774083T>A | CA515859358 | DMD | c.2265A>T (p.Ala755=) c.39A>T (p.Ala13=) n.1080A>T n.1002A>T n.911A>T c.7419A>T (p.Ala2473=) c.3387A>T (p.Ala1129=) c.408A>T (p.Ala136=) c.507A>T (p.Ala169=) c.7407A>T (p.Ala2469=) c.176A>T (n.176A>T) c.7404A>T (p.Ala2468=) c.7416A>T (p.Ala2472=) c.7395A>T (p.Ala2465=) c.7050A>T (p.Ala2350=) c.3396A>T (p.Ala1132=) c.7290A>T (p.Ala2430=) c.7281A>T (p.Ala2427=) c.7296A>T (p.Ala2432=) c.1593A>T (p.Ala531=) | |
X | g.31774083T>C | CA515859359 | DMD | c.2265A>G (p.Ala755=) c.39A>G (p.Ala13=) n.1080A>G n.1002A>G n.911A>G c.7419A>G (p.Ala2473=) c.3387A>G (p.Ala1129=) c.408A>G (p.Ala136=) c.507A>G (p.Ala169=) c.7407A>G (p.Ala2469=) c.176A>G (n.176A>G) c.7404A>G (p.Ala2468=) c.7416A>G (p.Ala2472=) c.7395A>G (p.Ala2465=) c.7050A>G (p.Ala2350=) c.3396A>G (p.Ala1132=) c.7290A>G (p.Ala2430=) c.7281A>G (p.Ala2427=) c.7296A>G (p.Ala2432=) c.1593A>G (p.Ala531=) | |
X | g.31774083T>G | CA515859360 | DMD | c.2265A>C (p.Ala755=) c.39A>C (p.Ala13=) n.1080A>C n.1002A>C n.911A>C c.7419A>C (p.Ala2473=) c.3387A>C (p.Ala1129=) c.408A>C (p.Ala136=) c.507A>C (p.Ala169=) c.7407A>C (p.Ala2469=) c.176A>C (n.176A>C) c.7404A>C (p.Ala2468=) c.7416A>C (p.Ala2472=) c.7395A>C (p.Ala2465=) c.7050A>C (p.Ala2350=) c.3396A>C (p.Ala1132=) c.7290A>C (p.Ala2430=) c.7281A>C (p.Ala2427=) c.7296A>C (p.Ala2432=) c.1593A>C (p.Ala531=) | |
X | g.31774084G>A | CA412658971 | DMD | c.2264C>T (p.Ala755Val) c.38C>T (p.Ala13Val) n.1079C>T n.1001C>T n.910C>T c.7418C>T (p.Ala2473Val) c.3386C>T (p.Ala1129Val) c.407C>T (p.Ala136Val) c.506C>T (p.Ala169Val) c.7406C>T (p.Ala2469Val) c.175C>T (n.175C>T) c.7403C>T (p.Ala2468Val) c.7415C>T (p.Ala2472Val) c.7394C>T (p.Ala2465Val) c.7049C>T (p.Ala2350Val) c.3395C>T (p.Ala1132Val) c.7289C>T (p.Ala2430Val) c.7280C>T (p.Ala2427Val) c.7295C>T (p.Ala2432Val) c.1592C>T (p.Ala531Val) | ClinVar gnomAD v4 |
X | g.31774084G>C | CA412658972 | DMD | c.2264C>G (p.Ala755Gly) c.38C>G (p.Ala13Gly) n.1079C>G n.1001C>G n.910C>G c.7418C>G (p.Ala2473Gly) c.3386C>G (p.Ala1129Gly) c.407C>G (p.Ala136Gly) c.506C>G (p.Ala169Gly) c.7406C>G (p.Ala2469Gly) c.175C>G (n.175C>G) c.7403C>G (p.Ala2468Gly) c.7415C>G (p.Ala2472Gly) c.7394C>G (p.Ala2465Gly) c.7049C>G (p.Ala2350Gly) c.3395C>G (p.Ala1132Gly) c.7289C>G (p.Ala2430Gly) c.7280C>G (p.Ala2427Gly) c.7295C>G (p.Ala2432Gly) c.1592C>G (p.Ala531Gly) | |
X | g.31774084G>T | CA412658973 | DMD | c.2264C>A (p.Ala755Glu) c.38C>A (p.Ala13Glu) n.1079C>A n.1001C>A n.910C>A c.7418C>A (p.Ala2473Glu) c.3386C>A (p.Ala1129Glu) c.407C>A (p.Ala136Glu) c.506C>A (p.Ala169Glu) c.7406C>A (p.Ala2469Glu) c.175C>A (n.175C>A) c.7403C>A (p.Ala2468Glu) c.7415C>A (p.Ala2472Glu) c.7394C>A (p.Ala2465Glu) c.7049C>A (p.Ala2350Glu) c.3395C>A (p.Ala1132Glu) c.7289C>A (p.Ala2430Glu) c.7280C>A (p.Ala2427Glu) c.7295C>A (p.Ala2432Glu) c.1592C>A (p.Ala531Glu) | |
X | g.31774085C>A | CA412658976 | DMD | c.2263G>T (p.Ala755Ser) c.37G>T (p.Ala13Ser) n.1078G>T n.1000G>T n.909G>T c.7417G>T (p.Ala2473Ser) c.3385G>T (p.Ala1129Ser) c.406G>T (p.Ala136Ser) c.505G>T (p.Ala169Ser) c.7405G>T (p.Ala2469Ser) c.174G>T (n.174G>T) c.7402G>T (p.Ala2468Ser) c.7414G>T (p.Ala2472Ser) c.7393G>T (p.Ala2465Ser) c.7048G>T (p.Ala2350Ser) c.3394G>T (p.Ala1132Ser) c.7288G>T (p.Ala2430Ser) c.7279G>T (p.Ala2427Ser) c.7294G>T (p.Ala2432Ser) c.1591G>T (p.Ala531Ser) | |
X | g.31774085C>G | CA412658974 | DMD | c.2263G>C (p.Ala755Pro) c.37G>C (p.Ala13Pro) n.1078G>C n.1000G>C n.909G>C c.7417G>C (p.Ala2473Pro) c.3385G>C (p.Ala1129Pro) c.406G>C (p.Ala136Pro) c.505G>C (p.Ala169Pro) c.7405G>C (p.Ala2469Pro) c.174G>C (n.174G>C) c.7402G>C (p.Ala2468Pro) c.7414G>C (p.Ala2472Pro) c.7393G>C (p.Ala2465Pro) c.7048G>C (p.Ala2350Pro) c.3394G>C (p.Ala1132Pro) c.7288G>C (p.Ala2430Pro) c.7279G>C (p.Ala2427Pro) c.7294G>C (p.Ala2432Pro) c.1591G>C (p.Ala531Pro) | |
X | g.31774085C>T | CA412658975 | DMD | c.2263G>A (p.Ala755Thr) c.37G>A (p.Ala13Thr) n.1078G>A n.1000G>A n.909G>A c.7417G>A (p.Ala2473Thr) c.3385G>A (p.Ala1129Thr) c.406G>A (p.Ala136Thr) c.505G>A (p.Ala169Thr) c.7405G>A (p.Ala2469Thr) c.174G>A (n.174G>A) c.7402G>A (p.Ala2468Thr) c.7414G>A (p.Ala2472Thr) c.7393G>A (p.Ala2465Thr) c.7048G>A (p.Ala2350Thr) c.3394G>A (p.Ala1132Thr) c.7288G>A (p.Ala2430Thr) c.7279G>A (p.Ala2427Thr) c.7294G>A (p.Ala2432Thr) c.1591G>A (p.Ala531Thr) | |
X | g.31774086C>A | CA515859361 | DMD | c.2262G>T (p.Leu754=) c.36G>T (p.Leu12=) n.1077G>T n.999G>T n.908G>T c.7416G>T (p.Leu2472=) c.3384G>T (p.Leu1128=) c.405G>T (p.Leu135=) c.504G>T (p.Leu168=) c.7404G>T (p.Leu2468=) c.173G>T (n.173G>T) c.7401G>T (p.Leu2467=) c.7413G>T (p.Leu2471=) c.7392G>T (p.Leu2464=) c.7047G>T (p.Leu2349=) c.3393G>T (p.Leu1131=) c.7287G>T (p.Leu2429=) c.7278G>T (p.Leu2426=) c.7293G>T (p.Leu2431=) c.1590G>T (p.Leu530=) | |
X | g.31774086C>G | CA515859362 | DMD | c.2262G>C (p.Leu754=) c.36G>C (p.Leu12=) n.1077G>C n.999G>C n.908G>C c.7416G>C (p.Leu2472=) c.3384G>C (p.Leu1128=) c.405G>C (p.Leu135=) c.504G>C (p.Leu168=) c.7404G>C (p.Leu2468=) c.173G>C (n.173G>C) c.7401G>C (p.Leu2467=) c.7413G>C (p.Leu2471=) c.7392G>C (p.Leu2464=) c.7047G>C (p.Leu2349=) c.3393G>C (p.Leu1131=) c.7287G>C (p.Leu2429=) c.7278G>C (p.Leu2426=) c.7293G>C (p.Leu2431=) c.1590G>C (p.Leu530=) | |
X | g.31774086C>T | CA515859363 | DMD | c.2262G>A (p.Leu754=) c.36G>A (p.Leu12=) n.1077G>A n.999G>A n.908G>A c.7416G>A (p.Leu2472=) c.3384G>A (p.Leu1128=) c.405G>A (p.Leu135=) c.504G>A (p.Leu168=) c.7404G>A (p.Leu2468=) c.173G>A (n.173G>A) c.7401G>A (p.Leu2467=) c.7413G>A (p.Leu2471=) c.7392G>A (p.Leu2464=) c.7047G>A (p.Leu2349=) c.3393G>A (p.Leu1131=) c.7287G>A (p.Leu2429=) c.7278G>A (p.Leu2426=) c.7293G>A (p.Leu2431=) c.1590G>A (p.Leu530=) | |
X | g.31774087A>C | CA412658977 | DMD | c.2261T>G (p.Leu754Arg) c.35T>G (p.Leu12Arg) n.1076T>G n.998T>G n.907T>G c.7415T>G (p.Leu2472Arg) c.3383T>G (p.Leu1128Arg) c.404T>G (p.Leu135Arg) c.503T>G (p.Leu168Arg) c.7403T>G (p.Leu2468Arg) c.172T>G (n.172T>G) c.7400T>G (p.Leu2467Arg) c.7412T>G (p.Leu2471Arg) c.7391T>G (p.Leu2464Arg) c.7046T>G (p.Leu2349Arg) c.3392T>G (p.Leu1131Arg) c.7286T>G (p.Leu2429Arg) c.7277T>G (p.Leu2426Arg) c.7292T>G (p.Leu2431Arg) c.1589T>G (p.Leu530Arg) | |
X | g.31774087A>G | CA412658978 | DMD | c.2261T>C (p.Leu754Pro) c.35T>C (p.Leu12Pro) n.1076T>C n.998T>C n.907T>C c.7415T>C (p.Leu2472Pro) c.3383T>C (p.Leu1128Pro) c.404T>C (p.Leu135Pro) c.503T>C (p.Leu168Pro) c.7403T>C (p.Leu2468Pro) c.172T>C (n.172T>C) c.7400T>C (p.Leu2467Pro) c.7412T>C (p.Leu2471Pro) c.7391T>C (p.Leu2464Pro) c.7046T>C (p.Leu2349Pro) c.3392T>C (p.Leu1131Pro) c.7286T>C (p.Leu2429Pro) c.7277T>C (p.Leu2426Pro) c.7292T>C (p.Leu2431Pro) c.1589T>C (p.Leu530Pro) | |
X | g.31774087A>T | CA412658979 | DMD | c.2261T>A (p.Leu754Gln) c.35T>A (p.Leu12Gln) n.1076T>A n.998T>A n.907T>A c.7415T>A (p.Leu2472Gln) c.3383T>A (p.Leu1128Gln) c.404T>A (p.Leu135Gln) c.503T>A (p.Leu168Gln) c.7403T>A (p.Leu2468Gln) c.172T>A (n.172T>A) c.7400T>A (p.Leu2467Gln) c.7412T>A (p.Leu2471Gln) c.7391T>A (p.Leu2464Gln) c.7046T>A (p.Leu2349Gln) c.3392T>A (p.Leu1131Gln) c.7286T>A (p.Leu2429Gln) c.7277T>A (p.Leu2426Gln) c.7292T>A (p.Leu2431Gln) c.1589T>A (p.Leu530Gln) | |
X | g.31774088G>A | CA515859364 | DMD | c.2260C>T (p.Leu754=) c.34C>T (p.Leu12=) n.1075C>T n.997C>T n.906C>T c.7414C>T (p.Leu2472=) c.3382C>T (p.Leu1128=) c.403C>T (p.Leu135=) c.502C>T (p.Leu168=) c.7402C>T (p.Leu2468=) c.171C>T (n.171C>T) c.7399C>T (p.Leu2467=) c.7411C>T (p.Leu2471=) c.7390C>T (p.Leu2464=) c.7045C>T (p.Leu2349=) c.3391C>T (p.Leu1131=) c.7285C>T (p.Leu2429=) c.7276C>T (p.Leu2426=) c.7291C>T (p.Leu2431=) c.1588C>T (p.Leu530=) | |
X | g.31774088G>C | CA412658980 | DMD | c.2260C>G (p.Leu754Val) c.34C>G (p.Leu12Val) n.1075C>G n.997C>G n.906C>G c.7414C>G (p.Leu2472Val) c.3382C>G (p.Leu1128Val) c.403C>G (p.Leu135Val) c.502C>G (p.Leu168Val) c.7402C>G (p.Leu2468Val) c.171C>G (n.171C>G) c.7399C>G (p.Leu2467Val) c.7411C>G (p.Leu2471Val) c.7390C>G (p.Leu2464Val) c.7045C>G (p.Leu2349Val) c.3391C>G (p.Leu1131Val) c.7285C>G (p.Leu2429Val) c.7276C>G (p.Leu2426Val) c.7291C>G (p.Leu2431Val) c.1588C>G (p.Leu530Val) | |
X | g.31774088G>T | CA412658981 | DMD | c.2260C>A (p.Leu754Met) c.34C>A (p.Leu12Met) n.1075C>A n.997C>A n.906C>A c.7414C>A (p.Leu2472Met) c.3382C>A (p.Leu1128Met) c.403C>A (p.Leu135Met) c.502C>A (p.Leu168Met) c.7402C>A (p.Leu2468Met) c.171C>A (n.171C>A) c.7399C>A (p.Leu2467Met) c.7411C>A (p.Leu2471Met) c.7390C>A (p.Leu2464Met) c.7045C>A (p.Leu2349Met) c.3391C>A (p.Leu1131Met) c.7285C>A (p.Leu2429Met) c.7276C>A (p.Leu2426Met) c.7291C>A (p.Leu2431Met) c.1588C>A (p.Leu530Met) | |
X | g.31774089A>C | CA515859365 | DMD | c.2259T>G (p.Ala753=) c.33T>G (p.Ala11=) n.1074T>G n.996T>G n.905T>G c.7413T>G (p.Ala2471=) c.3381T>G (p.Ala1127=) c.402T>G (p.Ala134=) c.501T>G (p.Ala167=) c.7401T>G (p.Ala2467=) c.170T>G (n.170T>G) c.7398T>G (p.Ala2466=) c.7410T>G (p.Ala2470=) c.7389T>G (p.Ala2463=) c.7044T>G (p.Ala2348=) c.3390T>G (p.Ala1130=) c.7284T>G (p.Ala2428=) c.7275T>G (p.Ala2425=) c.7290T>G (p.Ala2430=) c.1587T>G (p.Ala529=) | |
X | g.31774089A>G | CA515859366 | DMD | c.2259T>C (p.Ala753=) c.33T>C (p.Ala11=) n.1074T>C n.996T>C n.905T>C c.7413T>C (p.Ala2471=) c.3381T>C (p.Ala1127=) c.402T>C (p.Ala134=) c.501T>C (p.Ala167=) c.7401T>C (p.Ala2467=) c.170T>C (n.170T>C) c.7398T>C (p.Ala2466=) c.7410T>C (p.Ala2470=) c.7389T>C (p.Ala2463=) c.7044T>C (p.Ala2348=) c.3390T>C (p.Ala1130=) c.7284T>C (p.Ala2428=) c.7275T>C (p.Ala2425=) c.7290T>C (p.Ala2430=) c.1587T>C (p.Ala529=) | |
X | g.31774089A>T | CA515859367 | DMD | c.2259T>A (p.Ala753=) c.33T>A (p.Ala11=) n.1074T>A n.996T>A n.905T>A c.7413T>A (p.Ala2471=) c.3381T>A (p.Ala1127=) c.402T>A (p.Ala134=) c.501T>A (p.Ala167=) c.7401T>A (p.Ala2467=) c.170T>A (n.170T>A) c.7398T>A (p.Ala2466=) c.7410T>A (p.Ala2470=) c.7389T>A (p.Ala2463=) c.7044T>A (p.Ala2348=) c.3390T>A (p.Ala1130=) c.7284T>A (p.Ala2428=) c.7275T>A (p.Ala2425=) c.7290T>A (p.Ala2430=) c.1587T>A (p.Ala529=) | ClinVar dbSNP |
X | g.31774090G>A | CA412658982 | DMD | c.2258C>T (p.Ala753Val) c.32C>T (p.Ala11Val) n.1073C>T n.995C>T n.904C>T c.7412C>T (p.Ala2471Val) c.3380C>T (p.Ala1127Val) c.401C>T (p.Ala134Val) c.500C>T (p.Ala167Val) c.7400C>T (p.Ala2467Val) c.169C>T (n.169C>T) c.7397C>T (p.Ala2466Val) c.7409C>T (p.Ala2470Val) c.7388C>T (p.Ala2463Val) c.7043C>T (p.Ala2348Val) c.3389C>T (p.Ala1130Val) c.7283C>T (p.Ala2428Val) c.7274C>T (p.Ala2425Val) c.7289C>T (p.Ala2430Val) c.1586C>T (p.Ala529Val) | |
X | g.31774090G>C | CA412658984 | DMD | c.2258C>G (p.Ala753Gly) c.32C>G (p.Ala11Gly) n.1073C>G n.995C>G n.904C>G c.7412C>G (p.Ala2471Gly) c.3380C>G (p.Ala1127Gly) c.401C>G (p.Ala134Gly) c.500C>G (p.Ala167Gly) c.7400C>G (p.Ala2467Gly) c.169C>G (n.169C>G) c.7397C>G (p.Ala2466Gly) c.7409C>G (p.Ala2470Gly) c.7388C>G (p.Ala2463Gly) c.7043C>G (p.Ala2348Gly) c.3389C>G (p.Ala1130Gly) c.7283C>G (p.Ala2428Gly) c.7274C>G (p.Ala2425Gly) c.7289C>G (p.Ala2430Gly) c.1586C>G (p.Ala529Gly) | |
X | g.31774090G>T | CA412658983 | DMD | c.2258C>A (p.Ala753Asp) c.32C>A (p.Ala11Asp) n.1073C>A n.995C>A n.904C>A c.7412C>A (p.Ala2471Asp) c.3380C>A (p.Ala1127Asp) c.401C>A (p.Ala134Asp) c.500C>A (p.Ala167Asp) c.7400C>A (p.Ala2467Asp) c.169C>A (n.169C>A) c.7397C>A (p.Ala2466Asp) c.7409C>A (p.Ala2470Asp) c.7388C>A (p.Ala2463Asp) c.7043C>A (p.Ala2348Asp) c.3389C>A (p.Ala1130Asp) c.7283C>A (p.Ala2428Asp) c.7274C>A (p.Ala2425Asp) c.7289C>A (p.Ala2430Asp) c.1586C>A (p.Ala529Asp) | |
X | g.31774091C>A | CA412658985 | DMD | c.2257G>T (p.Ala753Ser) c.31G>T (p.Ala11Ser) n.1072G>T n.994G>T n.903G>T c.7411G>T (p.Ala2471Ser) c.3379G>T (p.Ala1127Ser) c.400G>T (p.Ala134Ser) c.499G>T (p.Ala167Ser) c.7399G>T (p.Ala2467Ser) c.168G>T (n.168G>T) c.7396G>T (p.Ala2466Ser) c.7408G>T (p.Ala2470Ser) c.7387G>T (p.Ala2463Ser) c.7042G>T (p.Ala2348Ser) c.3388G>T (p.Ala1130Ser) c.7282G>T (p.Ala2428Ser) c.7273G>T (p.Ala2425Ser) c.7288G>T (p.Ala2430Ser) c.1585G>T (p.Ala529Ser) | |
X | g.31774091C>G | CA412658986 | DMD | c.2257G>C (p.Ala753Pro) c.31G>C (p.Ala11Pro) n.1072G>C n.994G>C n.903G>C c.7411G>C (p.Ala2471Pro) c.3379G>C (p.Ala1127Pro) c.400G>C (p.Ala134Pro) c.499G>C (p.Ala167Pro) c.7399G>C (p.Ala2467Pro) c.168G>C (n.168G>C) c.7396G>C (p.Ala2466Pro) c.7408G>C (p.Ala2470Pro) c.7387G>C (p.Ala2463Pro) c.7042G>C (p.Ala2348Pro) c.3388G>C (p.Ala1130Pro) c.7282G>C (p.Ala2428Pro) c.7273G>C (p.Ala2425Pro) c.7288G>C (p.Ala2430Pro) c.1585G>C (p.Ala529Pro) | COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774091C>T | CA412658987 | DMD | c.2257G>A (p.Ala753Thr) c.31G>A (p.Ala11Thr) n.1072G>A n.994G>A n.903G>A c.7411G>A (p.Ala2471Thr) c.3379G>A (p.Ala1127Thr) c.400G>A (p.Ala134Thr) c.499G>A (p.Ala167Thr) c.7399G>A (p.Ala2467Thr) c.168G>A (n.168G>A) c.7396G>A (p.Ala2466Thr) c.7408G>A (p.Ala2470Thr) c.7387G>A (p.Ala2463Thr) c.7042G>A (p.Ala2348Thr) c.3388G>A (p.Ala1130Thr) c.7282G>A (p.Ala2428Thr) c.7273G>A (p.Ala2425Thr) c.7288G>A (p.Ala2430Thr) c.1585G>A (p.Ala529Thr) | |
X | g.31774092A>C | CA515859370 | DMD | c.2256T>G (p.Pro752=) c.30T>G (p.Pro10=) n.1071T>G n.993T>G n.902T>G c.7410T>G (p.Pro2470=) c.3378T>G (p.Pro1126=) c.399T>G (p.Pro133=) c.498T>G (p.Pro166=) c.7398T>G (p.Pro2466=) c.167T>G (n.167T>G) c.7395T>G (p.Pro2465=) c.7407T>G (p.Pro2469=) c.7386T>G (p.Pro2462=) c.7041T>G (p.Pro2347=) c.3387T>G (p.Pro1129=) c.7281T>G (p.Pro2427=) c.7272T>G (p.Pro2424=) c.7287T>G (p.Pro2429=) c.1584T>G (p.Pro528=) | |
X | g.31774092A>G | CA515859369 | DMD | c.2256T>C (p.Pro752=) c.30T>C (p.Pro10=) n.1071T>C n.993T>C n.902T>C c.7410T>C (p.Pro2470=) c.3378T>C (p.Pro1126=) c.399T>C (p.Pro133=) c.498T>C (p.Pro166=) c.7398T>C (p.Pro2466=) c.167T>C (n.167T>C) c.7395T>C (p.Pro2465=) c.7407T>C (p.Pro2469=) c.7386T>C (p.Pro2462=) c.7041T>C (p.Pro2347=) c.3387T>C (p.Pro1129=) c.7281T>C (p.Pro2427=) c.7272T>C (p.Pro2424=) c.7287T>C (p.Pro2429=) c.1584T>C (p.Pro528=) | |
X | g.31774092A>T | CA515859368 | DMD | c.2256T>A (p.Pro752=) c.30T>A (p.Pro10=) n.1071T>A n.993T>A n.902T>A c.7410T>A (p.Pro2470=) c.3378T>A (p.Pro1126=) c.399T>A (p.Pro133=) c.498T>A (p.Pro166=) c.7398T>A (p.Pro2466=) c.167T>A (n.167T>A) c.7395T>A (p.Pro2465=) c.7407T>A (p.Pro2469=) c.7386T>A (p.Pro2462=) c.7041T>A (p.Pro2347=) c.3387T>A (p.Pro1129=) c.7281T>A (p.Pro2427=) c.7272T>A (p.Pro2424=) c.7287T>A (p.Pro2429=) c.1584T>A (p.Pro528=) | |
X | g.31774093G>A | CA412658988 | DMD | c.2255C>T (p.Pro752Leu) c.29C>T (p.Pro10Leu) n.1070C>T n.992C>T n.901C>T c.7409C>T (p.Pro2470Leu) c.3377C>T (p.Pro1126Leu) c.398C>T (p.Pro133Leu) c.497C>T (p.Pro166Leu) c.7397C>T (p.Pro2466Leu) c.166C>T (n.166C>T) c.7394C>T (p.Pro2465Leu) c.7406C>T (p.Pro2469Leu) c.7385C>T (p.Pro2462Leu) c.7040C>T (p.Pro2347Leu) c.3386C>T (p.Pro1129Leu) c.7280C>T (p.Pro2427Leu) c.7271C>T (p.Pro2424Leu) c.7286C>T (p.Pro2429Leu) c.1583C>T (p.Pro528Leu) | |
X | g.31774093G>C | CA412658989 | DMD | c.2255C>G (p.Pro752Arg) c.29C>G (p.Pro10Arg) n.1070C>G n.992C>G n.901C>G c.7409C>G (p.Pro2470Arg) c.3377C>G (p.Pro1126Arg) c.398C>G (p.Pro133Arg) c.497C>G (p.Pro166Arg) c.7397C>G (p.Pro2466Arg) c.166C>G (n.166C>G) c.7394C>G (p.Pro2465Arg) c.7406C>G (p.Pro2469Arg) c.7385C>G (p.Pro2462Arg) c.7040C>G (p.Pro2347Arg) c.3386C>G (p.Pro1129Arg) c.7280C>G (p.Pro2427Arg) c.7271C>G (p.Pro2424Arg) c.7286C>G (p.Pro2429Arg) c.1583C>G (p.Pro528Arg) | |
X | g.31774093G>T | CA412658990 | DMD | c.2255C>A (p.Pro752His) c.29C>A (p.Pro10His) n.1070C>A n.992C>A n.901C>A c.7409C>A (p.Pro2470His) c.3377C>A (p.Pro1126His) c.398C>A (p.Pro133His) c.497C>A (p.Pro166His) c.7397C>A (p.Pro2466His) c.166C>A (n.166C>A) c.7394C>A (p.Pro2465His) c.7406C>A (p.Pro2469His) c.7385C>A (p.Pro2462His) c.7040C>A (p.Pro2347His) c.3386C>A (p.Pro1129His) c.7280C>A (p.Pro2427His) c.7271C>A (p.Pro2424His) c.7286C>A (p.Pro2429His) c.1583C>A (p.Pro528His) | |
X | g.31774094G>A | CA412658991 | DMD | c.2254C>T (p.Pro752Ser) c.28C>T (p.Pro10Ser) n.1069C>T n.991C>T n.900C>T c.7408C>T (p.Pro2470Ser) c.3376C>T (p.Pro1126Ser) c.397C>T (p.Pro133Ser) c.496C>T (p.Pro166Ser) c.7396C>T (p.Pro2466Ser) c.165C>T (n.165C>T) c.7393C>T (p.Pro2465Ser) c.7405C>T (p.Pro2469Ser) c.7384C>T (p.Pro2462Ser) c.7039C>T (p.Pro2347Ser) c.3385C>T (p.Pro1129Ser) c.7279C>T (p.Pro2427Ser) c.7270C>T (p.Pro2424Ser) c.7285C>T (p.Pro2429Ser) c.1582C>T (p.Pro528Ser) | |
X | g.31774094G>C | CA412658992 | DMD | c.2254C>G (p.Pro752Ala) c.28C>G (p.Pro10Ala) n.1069C>G n.991C>G n.900C>G c.7408C>G (p.Pro2470Ala) c.3376C>G (p.Pro1126Ala) c.397C>G (p.Pro133Ala) c.496C>G (p.Pro166Ala) c.7396C>G (p.Pro2466Ala) c.165C>G (n.165C>G) c.7393C>G (p.Pro2465Ala) c.7405C>G (p.Pro2469Ala) c.7384C>G (p.Pro2462Ala) c.7039C>G (p.Pro2347Ala) c.3385C>G (p.Pro1129Ala) c.7279C>G (p.Pro2427Ala) c.7270C>G (p.Pro2424Ala) c.7285C>G (p.Pro2429Ala) c.1582C>G (p.Pro528Ala) | |
X | g.31774094G>T | CA412658993 | DMD | c.2254C>A (p.Pro752Thr) c.28C>A (p.Pro10Thr) n.1069C>A n.991C>A n.900C>A c.7408C>A (p.Pro2470Thr) c.3376C>A (p.Pro1126Thr) c.397C>A (p.Pro133Thr) c.496C>A (p.Pro166Thr) c.7396C>A (p.Pro2466Thr) c.165C>A (n.165C>A) c.7393C>A (p.Pro2465Thr) c.7405C>A (p.Pro2469Thr) c.7384C>A (p.Pro2462Thr) c.7039C>A (p.Pro2347Thr) c.3385C>A (p.Pro1129Thr) c.7279C>A (p.Pro2427Thr) c.7270C>A (p.Pro2424Thr) c.7285C>A (p.Pro2429Thr) c.1582C>A (p.Pro528Thr) | |
X | g.31774095T>A | CA515859371 | DMD | c.2253A>T (p.Val751=) c.27A>T (p.Val9=) n.1068A>T n.990A>T n.899A>T c.7407A>T (p.Val2469=) c.3375A>T (p.Val1125=) c.396A>T (p.Val132=) c.495A>T (p.Val165=) c.7395A>T (p.Val2465=) c.164A>T (n.164A>T) c.7392A>T (p.Val2464=) c.7404A>T (p.Val2468=) c.7383A>T (p.Val2461=) c.7038A>T (p.Val2346=) c.3384A>T (p.Val1128=) c.7278A>T (p.Val2426=) c.7269A>T (p.Val2423=) c.7284A>T (p.Val2428=) c.1581A>T (p.Val527=) | |
X | g.31774095T>C | CA515859372 | DMD | c.2253A>G (p.Val751=) c.27A>G (p.Val9=) n.1068A>G n.990A>G n.899A>G c.7407A>G (p.Val2469=) c.3375A>G (p.Val1125=) c.396A>G (p.Val132=) c.495A>G (p.Val165=) c.7395A>G (p.Val2465=) c.164A>G (n.164A>G) c.7392A>G (p.Val2464=) c.7404A>G (p.Val2468=) c.7383A>G (p.Val2461=) c.7038A>G (p.Val2346=) c.3384A>G (p.Val1128=) c.7278A>G (p.Val2426=) c.7269A>G (p.Val2423=) c.7284A>G (p.Val2428=) c.1581A>G (p.Val527=) | ClinVar |
X | g.31774095T>G | CA515859373 | DMD | c.2253A>C (p.Val751=) c.27A>C (p.Val9=) n.1068A>C n.990A>C n.899A>C c.7407A>C (p.Val2469=) c.3375A>C (p.Val1125=) c.396A>C (p.Val132=) c.495A>C (p.Val165=) c.7395A>C (p.Val2465=) c.164A>C (n.164A>C) c.7392A>C (p.Val2464=) c.7404A>C (p.Val2468=) c.7383A>C (p.Val2461=) c.7038A>C (p.Val2346=) c.3384A>C (p.Val1128=) c.7278A>C (p.Val2426=) c.7269A>C (p.Val2423=) c.7284A>C (p.Val2428=) c.1581A>C (p.Val527=) | ClinVar dbSNP |
X | g.31774096A= | CA2422548651 | DMD | c.2252T= (p.Val751=) c.26T= (p.Val9=) n.1067T= n.989T= n.898T= c.7406T= (p.Val2469=) c.3374T= (p.Val1125=) c.395T= (p.Val132=) c.494T= (p.Val165=) c.7394T= (p.Val2465=) c.163T= (n.163T=) c.7391T= (p.Val2464=) c.7403T= (p.Val2468=) c.7382T= (p.Val2461=) c.7037T= (p.Val2346=) c.3383T= (p.Val1128=) c.7277T= (p.Val2426=) c.7268T= (p.Val2423=) c.7283T= (p.Val2428=) c.1580T= (p.Val527=) | |
X | g.31774096A>C | CA412658994 | DMD | c.2252T>G (p.Val751Gly) c.26T>G (p.Val9Gly) n.1067T>G n.989T>G n.898T>G c.7406T>G (p.Val2469Gly) c.3374T>G (p.Val1125Gly) c.395T>G (p.Val132Gly) c.494T>G (p.Val165Gly) c.7394T>G (p.Val2465Gly) c.163T>G (n.163T>G) c.7391T>G (p.Val2464Gly) c.7403T>G (p.Val2468Gly) c.7382T>G (p.Val2461Gly) c.7037T>G (p.Val2346Gly) c.3383T>G (p.Val1128Gly) c.7277T>G (p.Val2426Gly) c.7268T>G (p.Val2423Gly) c.7283T>G (p.Val2428Gly) c.1580T>G (p.Val527Gly) | |
X | g.31774096A>G | CA412658995 | DMD | c.2252T>C (p.Val751Ala) c.26T>C (p.Val9Ala) n.1067T>C n.989T>C n.898T>C c.7406T>C (p.Val2469Ala) c.3374T>C (p.Val1125Ala) c.395T>C (p.Val132Ala) c.494T>C (p.Val165Ala) c.7394T>C (p.Val2465Ala) c.163T>C (n.163T>C) c.7391T>C (p.Val2464Ala) c.7403T>C (p.Val2468Ala) c.7382T>C (p.Val2461Ala) c.7037T>C (p.Val2346Ala) c.3383T>C (p.Val1128Ala) c.7277T>C (p.Val2426Ala) c.7268T>C (p.Val2423Ala) c.7283T>C (p.Val2428Ala) c.1580T>C (p.Val527Ala) | |
X | g.31774096A>T | CA412658996 | DMD | c.2252T>A (p.Val751Glu) c.26T>A (p.Val9Glu) n.1067T>A n.989T>A n.898T>A c.7406T>A (p.Val2469Glu) c.3374T>A (p.Val1125Glu) c.395T>A (p.Val132Glu) c.494T>A (p.Val165Glu) c.7394T>A (p.Val2465Glu) c.163T>A (n.163T>A) c.7391T>A (p.Val2464Glu) c.7403T>A (p.Val2468Glu) c.7382T>A (p.Val2461Glu) c.7037T>A (p.Val2346Glu) c.3383T>A (p.Val1128Glu) c.7277T>A (p.Val2426Glu) c.7268T>A (p.Val2423Glu) c.7283T>A (p.Val2428Glu) c.1580T>A (p.Val527Glu) | dbSNP |
X | g.31774097C>A | CA412658998 | DMD | c.2251G>T (p.Val751Leu) c.25G>T (p.Val9Leu) n.1066G>T n.988G>T n.897G>T c.7405G>T (p.Val2469Leu) c.3373G>T (p.Val1125Leu) c.394G>T (p.Val132Leu) c.493G>T (p.Val165Leu) c.7393G>T (p.Val2465Leu) c.162G>T (n.162G>T) c.7390G>T (p.Val2464Leu) c.7402G>T (p.Val2468Leu) c.7381G>T (p.Val2461Leu) c.7036G>T (p.Val2346Leu) c.3382G>T (p.Val1128Leu) c.7276G>T (p.Val2426Leu) c.7267G>T (p.Val2423Leu) c.7282G>T (p.Val2428Leu) c.1579G>T (p.Val527Leu) | dbSNP |
X | g.31774097C>G | CA412658999 | DMD | c.2251G>C (p.Val751Leu) c.25G>C (p.Val9Leu) n.1066G>C n.988G>C n.897G>C c.7405G>C (p.Val2469Leu) c.3373G>C (p.Val1125Leu) c.394G>C (p.Val132Leu) c.493G>C (p.Val165Leu) c.7393G>C (p.Val2465Leu) c.162G>C (n.162G>C) c.7390G>C (p.Val2464Leu) c.7402G>C (p.Val2468Leu) c.7381G>C (p.Val2461Leu) c.7036G>C (p.Val2346Leu) c.3382G>C (p.Val1128Leu) c.7276G>C (p.Val2426Leu) c.7267G>C (p.Val2423Leu) c.7282G>C (p.Val2428Leu) c.1579G>C (p.Val527Leu) | |
X | g.31774097C>T | CA412658997 | DMD | c.2251G>A (p.Val751Ile) c.25G>A (p.Val9Ile) n.1066G>A n.988G>A n.897G>A c.7405G>A (p.Val2469Ile) c.3373G>A (p.Val1125Ile) c.394G>A (p.Val132Ile) c.493G>A (p.Val165Ile) c.7393G>A (p.Val2465Ile) c.162G>A (n.162G>A) c.7390G>A (p.Val2464Ile) c.7402G>A (p.Val2468Ile) c.7381G>A (p.Val2461Ile) c.7036G>A (p.Val2346Ile) c.3382G>A (p.Val1128Ile) c.7276G>A (p.Val2426Ile) c.7267G>A (p.Val2423Ile) c.7282G>A (p.Val2428Ile) c.1579G>A (p.Val527Ile) | |
X | g.31774098C>A | CA412659000 | DMD | c.2250G>T (p.Glu750Asp) c.24G>T (p.Glu8Asp) n.1065G>T n.987G>T n.896G>T c.7404G>T (p.Glu2468Asp) c.3372G>T (p.Glu1124Asp) c.393G>T (p.Glu131Asp) c.492G>T (p.Glu164Asp) c.7392G>T (p.Glu2464Asp) c.161G>T (n.161G>T) c.7389G>T (p.Glu2463Asp) c.7401G>T (p.Glu2467Asp) c.7380G>T (p.Glu2460Asp) c.7035G>T (p.Glu2345Asp) c.3381G>T (p.Glu1127Asp) c.7275G>T (p.Glu2425Asp) c.7266G>T (p.Glu2422Asp) c.7281G>T (p.Glu2427Asp) c.1578G>T (p.Glu526Asp) | |
X | g.31774098C= | CA2422548652 | DMD | c.2250G= (p.Glu750=) c.24G= (p.Glu8=) n.1065G= n.987G= n.896G= c.7404G= (p.Glu2468=) c.3372G= (p.Glu1124=) c.393G= (p.Glu131=) c.492G= (p.Glu164=) c.7392G= (p.Glu2464=) c.161G= (n.161G=) c.7389G= (p.Glu2463=) c.7401G= (p.Glu2467=) c.7380G= (p.Glu2460=) c.7035G= (p.Glu2345=) c.3381G= (p.Glu1127=) c.7275G= (p.Glu2425=) c.7266G= (p.Glu2422=) c.7281G= (p.Glu2427=) c.1578G= (p.Glu526=) | |
X | g.31774098C>G | CA412659001 | DMD | c.2250G>C (p.Glu750Asp) c.24G>C (p.Glu8Asp) n.1065G>C n.987G>C n.896G>C c.7404G>C (p.Glu2468Asp) c.3372G>C (p.Glu1124Asp) c.393G>C (p.Glu131Asp) c.492G>C (p.Glu164Asp) c.7392G>C (p.Glu2464Asp) c.161G>C (n.161G>C) c.7389G>C (p.Glu2463Asp) c.7401G>C (p.Glu2467Asp) c.7380G>C (p.Glu2460Asp) c.7035G>C (p.Glu2345Asp) c.3381G>C (p.Glu1127Asp) c.7275G>C (p.Glu2425Asp) c.7266G>C (p.Glu2422Asp) c.7281G>C (p.Glu2427Asp) c.1578G>C (p.Glu526Asp) | |
X | g.31774098C>T | CA515859374 | DMD | c.2250G>A (p.Glu750=) c.24G>A (p.Glu8=) n.1065G>A n.987G>A n.896G>A c.7404G>A (p.Glu2468=) c.3372G>A (p.Glu1124=) c.393G>A (p.Glu131=) c.492G>A (p.Glu164=) c.7392G>A (p.Glu2464=) c.161G>A (n.161G>A) c.7389G>A (p.Glu2463=) c.7401G>A (p.Glu2467=) c.7380G>A (p.Glu2460=) c.7035G>A (p.Glu2345=) c.3381G>A (p.Glu1127=) c.7275G>A (p.Glu2425=) c.7266G>A (p.Glu2422=) c.7281G>A (p.Glu2427=) c.1578G>A (p.Glu526=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.31774099T>A | CA412659002 | DMD | c.2249A>T (p.Glu750Val) c.23A>T (p.Glu8Val) n.1064A>T n.986A>T n.895A>T c.7403A>T (p.Glu2468Val) c.3371A>T (p.Glu1124Val) c.392A>T (p.Glu131Val) c.491A>T (p.Glu164Val) c.7391A>T (p.Glu2464Val) c.160A>T (n.160A>T) c.7388A>T (p.Glu2463Val) c.7400A>T (p.Glu2467Val) c.7379A>T (p.Glu2460Val) c.7034A>T (p.Glu2345Val) c.3380A>T (p.Glu1127Val) c.7274A>T (p.Glu2425Val) c.7265A>T (p.Glu2422Val) c.7280A>T (p.Glu2427Val) c.1577A>T (p.Glu526Val) | |
X | g.31774099T>C | CA412659003 | DMD | c.2249A>G (p.Glu750Gly) c.23A>G (p.Glu8Gly) n.1064A>G n.986A>G n.895A>G c.7403A>G (p.Glu2468Gly) c.3371A>G (p.Glu1124Gly) c.392A>G (p.Glu131Gly) c.491A>G (p.Glu164Gly) c.7391A>G (p.Glu2464Gly) c.160A>G (n.160A>G) c.7388A>G (p.Glu2463Gly) c.7400A>G (p.Glu2467Gly) c.7379A>G (p.Glu2460Gly) c.7034A>G (p.Glu2345Gly) c.3380A>G (p.Glu1127Gly) c.7274A>G (p.Glu2425Gly) c.7265A>G (p.Glu2422Gly) c.7280A>G (p.Glu2427Gly) c.1577A>G (p.Glu526Gly) | |
X | g.31774099T>G | CA412659004 | DMD | c.2249A>C (p.Glu750Ala) c.23A>C (p.Glu8Ala) n.1064A>C n.986A>C n.895A>C c.7403A>C (p.Glu2468Ala) c.3371A>C (p.Glu1124Ala) c.392A>C (p.Glu131Ala) c.491A>C (p.Glu164Ala) c.7391A>C (p.Glu2464Ala) c.160A>C (n.160A>C) c.7388A>C (p.Glu2463Ala) c.7400A>C (p.Glu2467Ala) c.7379A>C (p.Glu2460Ala) c.7034A>C (p.Glu2345Ala) c.3380A>C (p.Glu1127Ala) c.7274A>C (p.Glu2425Ala) c.7265A>C (p.Glu2422Ala) c.7280A>C (p.Glu2427Ala) c.1577A>C (p.Glu526Ala) | |
X | g.31774100C>A | CA341073 | DMD | c.2248G>T (p.Glu750Ter) c.22G>T (p.Glu8Ter) n.1063G>T n.985G>T n.894G>T c.7402G>T (p.Glu2468Ter) c.3370G>T (p.Glu1124Ter) c.391G>T (p.Glu131Ter) c.490G>T (p.Glu164Ter) c.7390G>T (p.Glu2464Ter) c.159G>T (n.159G>T) c.7387G>T (p.Glu2463Ter) c.7399G>T (p.Glu2467Ter) c.7378G>T (p.Glu2460Ter) c.7033G>T (p.Glu2345Ter) c.3379G>T (p.Glu1127Ter) c.7273G>T (p.Glu2425Ter) c.7264G>T (p.Glu2422Ter) c.7279G>T (p.Glu2427Ter) c.1576G>T (p.Glu526Ter) | ClinVar dbSNP |
X | g.31774100C= | CA2422548653 | DMD | c.2248G= (p.Glu750=) c.22G= (p.Glu8=) n.1063G= n.985G= n.894G= c.7402G= (p.Glu2468=) c.3370G= (p.Glu1124=) c.391G= (p.Glu131=) c.490G= (p.Glu164=) c.7390G= (p.Glu2464=) c.159G= (n.159G=) c.7387G= (p.Glu2463=) c.7399G= (p.Glu2467=) c.7378G= (p.Glu2460=) c.7033G= (p.Glu2345=) c.3379G= (p.Glu1127=) c.7273G= (p.Glu2425=) c.7264G= (p.Glu2422=) c.7279G= (p.Glu2427=) c.1576G= (p.Glu526=) | |
X | g.31774100C>G | CA412659005 | DMD | c.2248G>C (p.Glu750Gln) c.22G>C (p.Glu8Gln) n.1063G>C n.985G>C n.894G>C c.7402G>C (p.Glu2468Gln) c.3370G>C (p.Glu1124Gln) c.391G>C (p.Glu131Gln) c.490G>C (p.Glu164Gln) c.7390G>C (p.Glu2464Gln) c.159G>C (n.159G>C) c.7387G>C (p.Glu2463Gln) c.7399G>C (p.Glu2467Gln) c.7378G>C (p.Glu2460Gln) c.7033G>C (p.Glu2345Gln) c.3379G>C (p.Glu1127Gln) c.7273G>C (p.Glu2425Gln) c.7264G>C (p.Glu2422Gln) c.7279G>C (p.Glu2427Gln) c.1576G>C (p.Glu526Gln) | ClinVar dbSNP |
X | g.31774100C>T | CA412659006 | DMD | c.2248G>A (p.Glu750Lys) c.22G>A (p.Glu8Lys) n.1063G>A n.985G>A n.894G>A c.7402G>A (p.Glu2468Lys) c.3370G>A (p.Glu1124Lys) c.391G>A (p.Glu131Lys) c.490G>A (p.Glu164Lys) c.7390G>A (p.Glu2464Lys) c.159G>A (n.159G>A) c.7387G>A (p.Glu2463Lys) c.7399G>A (p.Glu2467Lys) c.7378G>A (p.Glu2460Lys) c.7033G>A (p.Glu2345Lys) c.3379G>A (p.Glu1127Lys) c.7273G>A (p.Glu2425Lys) c.7264G>A (p.Glu2422Lys) c.7279G>A (p.Glu2427Lys) c.1576G>A (p.Glu526Lys) | |
X | g.31774100_31774101delinsAT | CA2695232450 | DMD | c.2247_2248delinsAT (p.Leu750Ter) c.21_22delinsAT (p.Leu8Ter) n.1062_1063delinsAT n.984_985delinsAT n.893_894delinsAT c.7401_7402delinsAT (p.Leu2468Ter) c.3369_3370delinsAT (p.Leu1124Ter) c.390_391delinsAT (p.Leu131Ter) c.489_490delinsAT (p.Leu164Ter) c.7389_7390delinsAT (p.Leu2464Ter) c.158_159delinsAT (n.158_159delinsAT) c.7386_7387delinsAT (p.Leu2463Ter) c.7398_7399delinsAT (p.Leu2467Ter) c.7377_7378delinsAT (p.Leu2460Ter) c.7032_7033delinsAT (p.Leu2345Ter) c.3378_3379delinsAT (p.Leu1127Ter) c.7272_7273delinsAT (p.Leu2425Ter) c.7263_7264delinsAT (p.Leu2422Ter) c.7278_7279delinsAT (p.Leu2427Ter) c.1575_1576delinsAT (p.Leu526Ter) | |
X | g.31774101del | CA1132108675 | DMD | c.2248del (p.Glu750ArgfsTer26) c.22del (p.Glu8ArgfsTer26) n.1063del n.985del n.894del c.7402del (p.Glu2468ArgfsTer26) c.3370del (p.Glu1124ArgfsTer26) c.391del (p.Glu131ArgfsTer26) c.490del (p.Glu164ArgfsTer26) c.7390del (p.Glu2464ArgfsTer26) c.159del (n.159del) c.7387del (p.Glu2463ArgfsTer26) c.7399del (p.Glu2467ArgfsTer26) c.7378del (p.Glu2460ArgfsTer26) c.7033del (p.Glu2345ArgfsTer26) c.3379del (p.Glu1127ArgfsTer26) c.7273del (p.Glu2425ArgfsTer26) c.7264del (p.Glu2422ArgfsTer26) c.7279del (p.Glu2427ArgfsTer26) c.1576del (p.Glu526ArgfsTer26) | gnomAD v3 gnomAD v4 |
X | g.31774101C>A | CA412659007 | DMD | c.2247G>T (p.Leu749Phe) c.21G>T (p.Leu7Phe) n.1062G>T n.984G>T n.893G>T c.7401G>T (p.Leu2467Phe) c.3369G>T (p.Leu1123Phe) c.390G>T (p.Leu130Phe) c.489G>T (p.Leu163Phe) c.7389G>T (p.Leu2463Phe) c.158G>T (n.158G>T) c.7386G>T (p.Leu2462Phe) c.7398G>T (p.Leu2466Phe) c.7377G>T (p.Leu2459Phe) c.7032G>T (p.Leu2344Phe) c.3378G>T (p.Leu1126Phe) c.7272G>T (p.Leu2424Phe) c.7263G>T (p.Leu2421Phe) c.7278G>T (p.Leu2426Phe) c.1575G>T (p.Leu525Phe) | |
X | g.31774101C>G | CA412659008 | DMD | c.2247G>C (p.Leu749Phe) c.21G>C (p.Leu7Phe) n.1062G>C n.984G>C n.893G>C c.7401G>C (p.Leu2467Phe) c.3369G>C (p.Leu1123Phe) c.390G>C (p.Leu130Phe) c.489G>C (p.Leu163Phe) c.7389G>C (p.Leu2463Phe) c.158G>C (n.158G>C) c.7386G>C (p.Leu2462Phe) c.7398G>C (p.Leu2466Phe) c.7377G>C (p.Leu2459Phe) c.7032G>C (p.Leu2344Phe) c.3378G>C (p.Leu1126Phe) c.7272G>C (p.Leu2424Phe) c.7263G>C (p.Leu2421Phe) c.7278G>C (p.Leu2426Phe) c.1575G>C (p.Leu525Phe) | |
X | g.31774101C>T | CA515859375 | DMD | c.2247G>A (p.Leu749=) c.21G>A (p.Leu7=) n.1062G>A n.984G>A n.893G>A c.7401G>A (p.Leu2467=) c.3369G>A (p.Leu1123=) c.390G>A (p.Leu130=) c.489G>A (p.Leu163=) c.7389G>A (p.Leu2463=) c.158G>A (n.158G>A) c.7386G>A (p.Leu2462=) c.7398G>A (p.Leu2466=) c.7377G>A (p.Leu2459=) c.7032G>A (p.Leu2344=) c.3378G>A (p.Leu1126=) c.7272G>A (p.Leu2424=) c.7263G>A (p.Leu2421=) c.7278G>A (p.Leu2426=) c.1575G>A (p.Leu525=) | |
X | g.31774102A= | CA2422548654 | DMD | c.2246T= (p.Leu749=) c.20T= (p.Leu7=) n.1061T= n.983T= n.892T= c.7400T= (p.Leu2467=) c.3368T= (p.Leu1123=) c.389T= (p.Leu130=) c.488T= (p.Leu163=) c.7388T= (p.Leu2463=) c.157T= (n.157T=) c.7385T= (p.Leu2462=) c.7397T= (p.Leu2466=) c.7376T= (p.Leu2459=) c.7031T= (p.Leu2344=) c.3377T= (p.Leu1126=) c.7271T= (p.Leu2424=) c.7262T= (p.Leu2421=) c.7277T= (p.Leu2426=) c.1574T= (p.Leu525=) | |
X | g.31774102A>C | CA412659009 | DMD | c.2246T>G (p.Leu749Trp) c.20T>G (p.Leu7Trp) n.1061T>G n.983T>G n.892T>G c.7400T>G (p.Leu2467Trp) c.3368T>G (p.Leu1123Trp) c.389T>G (p.Leu130Trp) c.488T>G (p.Leu163Trp) c.7388T>G (p.Leu2463Trp) c.157T>G (n.157T>G) c.7385T>G (p.Leu2462Trp) c.7397T>G (p.Leu2466Trp) c.7376T>G (p.Leu2459Trp) c.7031T>G (p.Leu2344Trp) c.3377T>G (p.Leu1126Trp) c.7271T>G (p.Leu2424Trp) c.7262T>G (p.Leu2421Trp) c.7277T>G (p.Leu2426Trp) c.1574T>G (p.Leu525Trp) | |
X | g.31774102A>G | CA412659010 | DMD | c.2246T>C (p.Leu749Ser) c.20T>C (p.Leu7Ser) n.1061T>C n.983T>C n.892T>C c.7400T>C (p.Leu2467Ser) c.3368T>C (p.Leu1123Ser) c.389T>C (p.Leu130Ser) c.488T>C (p.Leu163Ser) c.7388T>C (p.Leu2463Ser) c.157T>C (n.157T>C) c.7385T>C (p.Leu2462Ser) c.7397T>C (p.Leu2466Ser) c.7376T>C (p.Leu2459Ser) c.7031T>C (p.Leu2344Ser) c.3377T>C (p.Leu1126Ser) c.7271T>C (p.Leu2424Ser) c.7262T>C (p.Leu2421Ser) c.7277T>C (p.Leu2426Ser) c.1574T>C (p.Leu525Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774102A>T | CA412659011 | DMD | c.2246T>A (p.Leu749Ter) c.20T>A (p.Leu7Ter) n.1061T>A n.983T>A n.892T>A c.7400T>A (p.Leu2467Ter) c.3368T>A (p.Leu1123Ter) c.389T>A (p.Leu130Ter) c.488T>A (p.Leu163Ter) c.7388T>A (p.Leu2463Ter) c.157T>A (n.157T>A) c.7385T>A (p.Leu2462Ter) c.7397T>A (p.Leu2466Ter) c.7376T>A (p.Leu2459Ter) c.7031T>A (p.Leu2344Ter) c.3377T>A (p.Leu1126Ter) c.7271T>A (p.Leu2424Ter) c.7262T>A (p.Leu2421Ter) c.7277T>A (p.Leu2426Ter) c.1574T>A (p.Leu525Ter) | ClinVar dbSNP |
X | g.31774103del | CA2695232452 | DMD | c.2246del (p.Leu749TrpfsTer27) c.20del (p.Leu7TrpfsTer27) n.1061del n.983del n.892del c.7400del (p.Leu2467TrpfsTer27) c.3368del (p.Leu1123TrpfsTer27) c.389del (p.Leu130TrpfsTer27) c.488del (p.Leu163TrpfsTer27) c.7388del (p.Leu2463TrpfsTer27) c.157del (n.157del) c.7385del (p.Leu2462TrpfsTer27) c.7397del (p.Leu2466TrpfsTer27) c.7376del (p.Leu2459TrpfsTer27) c.7031del (p.Leu2344TrpfsTer27) c.3377del (p.Leu1126TrpfsTer27) c.7271del (p.Leu2424TrpfsTer27) c.7262del (p.Leu2421TrpfsTer27) c.7277del (p.Leu2426TrpfsTer27) c.1574del (p.Leu525TrpfsTer27) | |
X | g.31774103A>C | CA412659012 | DMD | c.2245T>G (p.Leu749Val) c.19T>G (p.Leu7Val) n.1060T>G n.982T>G n.891T>G c.7399T>G (p.Leu2467Val) c.3367T>G (p.Leu1123Val) c.388T>G (p.Leu130Val) c.487T>G (p.Leu163Val) c.7387T>G (p.Leu2463Val) c.156T>G (n.156T>G) c.7384T>G (p.Leu2462Val) c.7396T>G (p.Leu2466Val) c.7375T>G (p.Leu2459Val) c.7030T>G (p.Leu2344Val) c.3376T>G (p.Leu1126Val) c.7270T>G (p.Leu2424Val) c.7261T>G (p.Leu2421Val) c.7276T>G (p.Leu2426Val) c.1573T>G (p.Leu525Val) | |
X | g.31774103A>G | CA515859376 | DMD | c.2245T>C (p.Leu749=) c.19T>C (p.Leu7=) n.1060T>C n.982T>C n.891T>C c.7399T>C (p.Leu2467=) c.3367T>C (p.Leu1123=) c.388T>C (p.Leu130=) c.487T>C (p.Leu163=) c.7387T>C (p.Leu2463=) c.156T>C (n.156T>C) c.7384T>C (p.Leu2462=) c.7396T>C (p.Leu2466=) c.7375T>C (p.Leu2459=) c.7030T>C (p.Leu2344=) c.3376T>C (p.Leu1126=) c.7270T>C (p.Leu2424=) c.7261T>C (p.Leu2421=) c.7276T>C (p.Leu2426=) c.1573T>C (p.Leu525=) | ClinVar |
X | g.31774103A>T | CA412659013 | DMD | c.2245T>A (p.Leu749Met) c.19T>A (p.Leu7Met) n.1060T>A n.982T>A n.891T>A c.7399T>A (p.Leu2467Met) c.3367T>A (p.Leu1123Met) c.388T>A (p.Leu130Met) c.487T>A (p.Leu163Met) c.7387T>A (p.Leu2463Met) c.156T>A (n.156T>A) c.7384T>A (p.Leu2462Met) c.7396T>A (p.Leu2466Met) c.7375T>A (p.Leu2459Met) c.7030T>A (p.Leu2344Met) c.3376T>A (p.Leu1126Met) c.7270T>A (p.Leu2424Met) c.7261T>A (p.Leu2421Met) c.7276T>A (p.Leu2426Met) c.1573T>A (p.Leu525Met) | |
X | g.31774104del | CA2739268133 | DMD | c.2244del (p.Met748IlefsTer28) c.18del (p.Met6IlefsTer28) n.1059del n.981del n.890del c.7398del (p.Met2466IlefsTer28) c.3366del (p.Met1122IlefsTer28) c.387del (p.Met129IlefsTer28) c.486del (p.Met162IlefsTer28) c.7386del (p.Met2462IlefsTer28) c.155del (n.155del) c.7383del (p.Met2461IlefsTer28) c.7395del (p.Met2465IlefsTer28) c.7374del (p.Met2458IlefsTer28) c.7029del (p.Met2343IlefsTer28) c.3375del (p.Met1125IlefsTer28) c.7269del (p.Met2423IlefsTer28) c.7260del (p.Met2420IlefsTer28) c.7275del (p.Met2425IlefsTer28) c.1572del (p.Met524IlefsTer28) | ClinVar |
X | g.31774104C>A | CA412659016 | DMD | c.2244G>T (p.Met748Ile) c.18G>T (p.Met6Ile) n.1059G>T n.981G>T n.890G>T c.7398G>T (p.Met2466Ile) c.3366G>T (p.Met1122Ile) c.387G>T (p.Met129Ile) c.486G>T (p.Met162Ile) c.7386G>T (p.Met2462Ile) c.155G>T (n.155G>T) c.7383G>T (p.Met2461Ile) c.7395G>T (p.Met2465Ile) c.7374G>T (p.Met2458Ile) c.7029G>T (p.Met2343Ile) c.3375G>T (p.Met1125Ile) c.7269G>T (p.Met2423Ile) c.7260G>T (p.Met2420Ile) c.7275G>T (p.Met2425Ile) c.1572G>T (p.Met524Ile) | |
X | g.31774104C>G | CA412659014 | DMD | c.2244G>C (p.Met748Ile) c.18G>C (p.Met6Ile) n.1059G>C n.981G>C n.890G>C c.7398G>C (p.Met2466Ile) c.3366G>C (p.Met1122Ile) c.387G>C (p.Met129Ile) c.486G>C (p.Met162Ile) c.7386G>C (p.Met2462Ile) c.155G>C (n.155G>C) c.7383G>C (p.Met2461Ile) c.7395G>C (p.Met2465Ile) c.7374G>C (p.Met2458Ile) c.7029G>C (p.Met2343Ile) c.3375G>C (p.Met1125Ile) c.7269G>C (p.Met2423Ile) c.7260G>C (p.Met2420Ile) c.7275G>C (p.Met2425Ile) c.1572G>C (p.Met524Ile) | |
X | g.31774104C>T | CA412659015 | DMD | c.2244G>A (p.Met748Ile) c.18G>A (p.Met6Ile) n.1059G>A n.981G>A n.890G>A c.7398G>A (p.Met2466Ile) c.3366G>A (p.Met1122Ile) c.387G>A (p.Met129Ile) c.486G>A (p.Met162Ile) c.7386G>A (p.Met2462Ile) c.155G>A (n.155G>A) c.7383G>A (p.Met2461Ile) c.7395G>A (p.Met2465Ile) c.7374G>A (p.Met2458Ile) c.7029G>A (p.Met2343Ile) c.3375G>A (p.Met1125Ile) c.7269G>A (p.Met2423Ile) c.7260G>A (p.Met2420Ile) c.7275G>A (p.Met2425Ile) c.1572G>A (p.Met524Ile) | |
X | g.31774105A= | CA2422548655 | DMD | c.2243T= (p.Met748=) c.17T= (p.Met6=) n.1058T= n.980T= n.889T= c.7397T= (p.Met2466=) c.3365T= (p.Met1122=) c.386T= (p.Met129=) c.485T= (p.Met162=) c.7385T= (p.Met2462=) c.154T= (n.154T=) c.7382T= (p.Met2461=) c.7394T= (p.Met2465=) c.7373T= (p.Met2458=) c.7028T= (p.Met2343=) c.3374T= (p.Met1125=) c.7268T= (p.Met2423=) c.7259T= (p.Met2420=) c.7274T= (p.Met2425=) c.1571T= (p.Met524=) | |
X | g.31774105A>C | CA412659017 | DMD | c.2243T>G (p.Met748Arg) c.17T>G (p.Met6Arg) n.1058T>G n.980T>G n.889T>G c.7397T>G (p.Met2466Arg) c.3365T>G (p.Met1122Arg) c.386T>G (p.Met129Arg) c.485T>G (p.Met162Arg) c.7385T>G (p.Met2462Arg) c.154T>G (n.154T>G) c.7382T>G (p.Met2461Arg) c.7394T>G (p.Met2465Arg) c.7373T>G (p.Met2458Arg) c.7028T>G (p.Met2343Arg) c.3374T>G (p.Met1125Arg) c.7268T>G (p.Met2423Arg) c.7259T>G (p.Met2420Arg) c.7274T>G (p.Met2425Arg) c.1571T>G (p.Met524Arg) | |
X | g.31774105A>G | CA10378281 | DMD | c.2243T>C (p.Met748Thr) c.17T>C (p.Met6Thr) n.1058T>C n.980T>C n.889T>C c.7397T>C (p.Met2466Thr) c.3365T>C (p.Met1122Thr) c.386T>C (p.Met129Thr) c.485T>C (p.Met162Thr) c.7385T>C (p.Met2462Thr) c.154T>C (n.154T>C) c.7382T>C (p.Met2461Thr) c.7394T>C (p.Met2465Thr) c.7373T>C (p.Met2458Thr) c.7028T>C (p.Met2343Thr) c.3374T>C (p.Met1125Thr) c.7268T>C (p.Met2423Thr) c.7259T>C (p.Met2420Thr) c.7274T>C (p.Met2425Thr) c.1571T>C (p.Met524Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774105A>T | CA412659018 | DMD | c.2243T>A (p.Met748Lys) c.17T>A (p.Met6Lys) n.1058T>A n.980T>A n.889T>A c.7397T>A (p.Met2466Lys) c.3365T>A (p.Met1122Lys) c.386T>A (p.Met129Lys) c.485T>A (p.Met162Lys) c.7385T>A (p.Met2462Lys) c.154T>A (n.154T>A) c.7382T>A (p.Met2461Lys) c.7394T>A (p.Met2465Lys) c.7373T>A (p.Met2458Lys) c.7028T>A (p.Met2343Lys) c.3374T>A (p.Met1125Lys) c.7268T>A (p.Met2423Lys) c.7259T>A (p.Met2420Lys) c.7274T>A (p.Met2425Lys) c.1571T>A (p.Met524Lys) | gnomAD v4 |
X | g.31774106T>A | CA412659019 | DMD | c.2242A>T (p.Met748Leu) c.16A>T (p.Met6Leu) n.1057A>T n.979A>T n.888A>T c.7396A>T (p.Met2466Leu) c.3364A>T (p.Met1122Leu) c.385A>T (p.Met129Leu) c.484A>T (p.Met162Leu) c.7384A>T (p.Met2462Leu) c.153A>T (n.153A>T) c.7381A>T (p.Met2461Leu) c.7393A>T (p.Met2465Leu) c.7372A>T (p.Met2458Leu) c.7027A>T (p.Met2343Leu) c.3373A>T (p.Met1125Leu) c.7267A>T (p.Met2423Leu) c.7258A>T (p.Met2420Leu) c.7273A>T (p.Met2425Leu) c.1570A>T (p.Met524Leu) | |
X | g.31774106T>C | CA412659020 | DMD | c.2242A>G (p.Met748Val) c.16A>G (p.Met6Val) n.1057A>G n.979A>G n.888A>G c.7396A>G (p.Met2466Val) c.3364A>G (p.Met1122Val) c.385A>G (p.Met129Val) c.484A>G (p.Met162Val) c.7384A>G (p.Met2462Val) c.153A>G (n.153A>G) c.7381A>G (p.Met2461Val) c.7393A>G (p.Met2465Val) c.7372A>G (p.Met2458Val) c.7027A>G (p.Met2343Val) c.3373A>G (p.Met1125Val) c.7267A>G (p.Met2423Val) c.7258A>G (p.Met2420Val) c.7273A>G (p.Met2425Val) c.1570A>G (p.Met524Val) | |
X | g.31774106T>G | CA412659021 | DMD | c.2242A>C (p.Met748Leu) c.16A>C (p.Met6Leu) n.1057A>C n.979A>C n.888A>C c.7396A>C (p.Met2466Leu) c.3364A>C (p.Met1122Leu) c.385A>C (p.Met129Leu) c.484A>C (p.Met162Leu) c.7384A>C (p.Met2462Leu) c.153A>C (n.153A>C) c.7381A>C (p.Met2461Leu) c.7393A>C (p.Met2465Leu) c.7372A>C (p.Met2458Leu) c.7027A>C (p.Met2343Leu) c.3373A>C (p.Met1125Leu) c.7267A>C (p.Met2423Leu) c.7258A>C (p.Met2420Leu) c.7273A>C (p.Met2425Leu) c.1570A>C (p.Met524Leu) | |
X | g.31774107del | CA2580100608 | DMD | c.2241del (p.Met748CysfsTer28) c.15del (p.Met6CysfsTer28) n.1056del n.978del n.887del c.7395del (p.Met2466CysfsTer28) c.3363del (p.Met1122CysfsTer28) c.384del (p.Met129CysfsTer28) c.483del (p.Met162CysfsTer28) c.7383del (p.Met2462CysfsTer28) c.152del (n.152del) c.7380del (p.Met2461CysfsTer28) c.7392del (p.Met2465CysfsTer28) c.7371del (p.Met2458CysfsTer28) c.7026del (p.Met2343CysfsTer28) c.3372del (p.Met1125CysfsTer28) c.7266del (p.Met2423CysfsTer28) c.7257del (p.Met2420CysfsTer28) c.7272del (p.Met2425CysfsTer28) c.1569del (p.Met524CysfsTer28) | ClinVar dbSNP |
X | g.31774107C>A | CA412659022 | DMD | c.2241G>T (p.Leu747Phe) c.15G>T (p.Leu5Phe) n.1056G>T n.978G>T n.887G>T c.7395G>T (p.Leu2465Phe) c.3363G>T (p.Leu1121Phe) c.384G>T (p.Leu128Phe) c.483G>T (p.Leu161Phe) c.7383G>T (p.Leu2461Phe) c.152G>T (n.152G>T) c.7380G>T (p.Leu2460Phe) c.7392G>T (p.Leu2464Phe) c.7371G>T (p.Leu2457Phe) c.7026G>T (p.Leu2342Phe) c.3372G>T (p.Leu1124Phe) c.7266G>T (p.Leu2422Phe) c.7257G>T (p.Leu2419Phe) c.7272G>T (p.Leu2424Phe) c.1569G>T (p.Leu523Phe) | COSMIC COSMIC COSMIC COSMIC |
X | g.31774107C>G | CA412659023 | DMD | c.2241G>C (p.Leu747Phe) c.15G>C (p.Leu5Phe) n.1056G>C n.978G>C n.887G>C c.7395G>C (p.Leu2465Phe) c.3363G>C (p.Leu1121Phe) c.384G>C (p.Leu128Phe) c.483G>C (p.Leu161Phe) c.7383G>C (p.Leu2461Phe) c.152G>C (n.152G>C) c.7380G>C (p.Leu2460Phe) c.7392G>C (p.Leu2464Phe) c.7371G>C (p.Leu2457Phe) c.7026G>C (p.Leu2342Phe) c.3372G>C (p.Leu1124Phe) c.7266G>C (p.Leu2422Phe) c.7257G>C (p.Leu2419Phe) c.7272G>C (p.Leu2424Phe) c.1569G>C (p.Leu523Phe) | |
X | g.31774107C>T | CA515859377 | DMD | c.2241G>A (p.Leu747=) c.15G>A (p.Leu5=) n.1056G>A n.978G>A n.887G>A c.7395G>A (p.Leu2465=) c.3363G>A (p.Leu1121=) c.384G>A (p.Leu128=) c.483G>A (p.Leu161=) c.7383G>A (p.Leu2461=) c.152G>A (n.152G>A) c.7380G>A (p.Leu2460=) c.7392G>A (p.Leu2464=) c.7371G>A (p.Leu2457=) c.7026G>A (p.Leu2342=) c.3372G>A (p.Leu1124=) c.7266G>A (p.Leu2422=) c.7257G>A (p.Leu2419=) c.7272G>A (p.Leu2424=) c.1569G>A (p.Leu523=) | |
X | g.31774108A>C | CA412659024 | DMD | c.2240T>G (p.Leu747Trp) c.14T>G (p.Leu5Trp) n.1055T>G n.977T>G n.886T>G c.7394T>G (p.Leu2465Trp) c.3362T>G (p.Leu1121Trp) c.383T>G (p.Leu128Trp) c.482T>G (p.Leu161Trp) c.7382T>G (p.Leu2461Trp) c.151T>G (n.151T>G) c.7379T>G (p.Leu2460Trp) c.7391T>G (p.Leu2464Trp) c.7370T>G (p.Leu2457Trp) c.7025T>G (p.Leu2342Trp) c.3371T>G (p.Leu1124Trp) c.7265T>G (p.Leu2422Trp) c.7256T>G (p.Leu2419Trp) c.7271T>G (p.Leu2424Trp) c.1568T>G (p.Leu523Trp) | |
X | g.31774108A>G | CA412659025 | DMD | c.2240T>C (p.Leu747Ser) c.14T>C (p.Leu5Ser) n.1055T>C n.977T>C n.886T>C c.7394T>C (p.Leu2465Ser) c.3362T>C (p.Leu1121Ser) c.383T>C (p.Leu128Ser) c.482T>C (p.Leu161Ser) c.7382T>C (p.Leu2461Ser) c.151T>C (n.151T>C) c.7379T>C (p.Leu2460Ser) c.7391T>C (p.Leu2464Ser) c.7370T>C (p.Leu2457Ser) c.7025T>C (p.Leu2342Ser) c.3371T>C (p.Leu1124Ser) c.7265T>C (p.Leu2422Ser) c.7256T>C (p.Leu2419Ser) c.7271T>C (p.Leu2424Ser) c.1568T>C (p.Leu523Ser) | |
X | g.31774108A>T | CA412659026 | DMD | c.2240T>A (p.Leu747Ter) c.14T>A (p.Leu5Ter) n.1055T>A n.977T>A n.886T>A c.7394T>A (p.Leu2465Ter) c.3362T>A (p.Leu1121Ter) c.383T>A (p.Leu128Ter) c.482T>A (p.Leu161Ter) c.7382T>A (p.Leu2461Ter) c.151T>A (n.151T>A) c.7379T>A (p.Leu2460Ter) c.7391T>A (p.Leu2464Ter) c.7370T>A (p.Leu2457Ter) c.7025T>A (p.Leu2342Ter) c.3371T>A (p.Leu1124Ter) c.7265T>A (p.Leu2422Ter) c.7256T>A (p.Leu2419Ter) c.7271T>A (p.Leu2424Ter) c.1568T>A (p.Leu523Ter) | |
X | g.31774111_31774114del | CA2695232457 | DMD | c.2237_2240del (p.Ser746Ter) c.11_14del (p.Ser4Ter) n.1052_1055del n.974_977del n.883_886del c.7391_7394del (p.Ser2464Ter) c.3359_3362del (p.Ser1120Ter) c.380_383del (p.Ser127Ter) c.479_482del (p.Ser160Ter) c.7379_7382del (p.Ser2460Ter) c.148_151del (n.148_151del) c.7376_7379del (p.Ser2459Ter) c.7388_7391del (p.Ser2463Ter) c.7367_7370del (p.Ser2456Ter) c.7022_7025del (p.Ser2341Ter) c.3368_3371del (p.Ser1123Ter) c.7262_7265del (p.Ser2421Ter) c.7253_7256del (p.Ser2418Ter) c.7268_7271del (p.Ser2423Ter) c.1565_1568del (p.Ser522Ter) | |
X | g.31774109A>C | CA412659027 | DMD | c.2239T>G (p.Leu747Val) c.13T>G (p.Leu5Val) n.1054T>G n.976T>G n.885T>G c.7393T>G (p.Leu2465Val) c.3361T>G (p.Leu1121Val) c.382T>G (p.Leu128Val) c.481T>G (p.Leu161Val) c.7381T>G (p.Leu2461Val) c.150T>G (n.150T>G) c.7378T>G (p.Leu2460Val) c.7390T>G (p.Leu2464Val) c.7369T>G (p.Leu2457Val) c.7024T>G (p.Leu2342Val) c.3370T>G (p.Leu1124Val) c.7264T>G (p.Leu2422Val) c.7255T>G (p.Leu2419Val) c.7270T>G (p.Leu2424Val) c.1567T>G (p.Leu523Val) | |
X | g.31774109A>G | CA515859378 | DMD | c.2239T>C (p.Leu747=) c.13T>C (p.Leu5=) n.1054T>C n.976T>C n.885T>C c.7393T>C (p.Leu2465=) c.3361T>C (p.Leu1121=) c.382T>C (p.Leu128=) c.481T>C (p.Leu161=) c.7381T>C (p.Leu2461=) c.150T>C (n.150T>C) c.7378T>C (p.Leu2460=) c.7390T>C (p.Leu2464=) c.7369T>C (p.Leu2457=) c.7024T>C (p.Leu2342=) c.3370T>C (p.Leu1124=) c.7264T>C (p.Leu2422=) c.7255T>C (p.Leu2419=) c.7270T>C (p.Leu2424=) c.1567T>C (p.Leu523=) | gnomAD v4 |
X | g.31774109A>T | CA412659028 | DMD | c.2239T>A (p.Leu747Met) c.13T>A (p.Leu5Met) n.1054T>A n.976T>A n.885T>A c.7393T>A (p.Leu2465Met) c.3361T>A (p.Leu1121Met) c.382T>A (p.Leu128Met) c.481T>A (p.Leu161Met) c.7381T>A (p.Leu2461Met) c.150T>A (n.150T>A) c.7378T>A (p.Leu2460Met) c.7390T>A (p.Leu2464Met) c.7369T>A (p.Leu2457Met) c.7024T>A (p.Leu2342Met) c.3370T>A (p.Leu1124Met) c.7264T>A (p.Leu2422Met) c.7255T>A (p.Leu2419Met) c.7270T>A (p.Leu2424Met) c.1567T>A (p.Leu523Met) | |
X | g.31774110G>A | CA515859379 | DMD | c.2238C>T (p.Ser746=) c.12C>T (p.Ser4=) n.1053C>T n.975C>T n.884C>T c.7392C>T (p.Ser2464=) c.3360C>T (p.Ser1120=) c.381C>T (p.Ser127=) c.480C>T (p.Ser160=) c.7380C>T (p.Ser2460=) c.149C>T (n.149C>T) c.7377C>T (p.Ser2459=) c.7389C>T (p.Ser2463=) c.7368C>T (p.Ser2456=) c.7023C>T (p.Ser2341=) c.3369C>T (p.Ser1123=) c.7263C>T (p.Ser2421=) c.7254C>T (p.Ser2418=) c.7269C>T (p.Ser2423=) c.1566C>T (p.Ser522=) | ClinVar dbSNP |
X | g.31774110G>C | CA515859380 | DMD | c.2238C>G (p.Ser746=) c.12C>G (p.Ser4=) n.1053C>G n.975C>G n.884C>G c.7392C>G (p.Ser2464=) c.3360C>G (p.Ser1120=) c.381C>G (p.Ser127=) c.480C>G (p.Ser160=) c.7380C>G (p.Ser2460=) c.149C>G (n.149C>G) c.7377C>G (p.Ser2459=) c.7389C>G (p.Ser2463=) c.7368C>G (p.Ser2456=) c.7023C>G (p.Ser2341=) c.3369C>G (p.Ser1123=) c.7263C>G (p.Ser2421=) c.7254C>G (p.Ser2418=) c.7269C>G (p.Ser2423=) c.1566C>G (p.Ser522=) | |
X | g.31774110G= | CA2422548656 | DMD | c.2238C= (p.Ser746=) c.12C= (p.Ser4=) n.1053C= n.975C= n.884C= c.7392C= (p.Ser2464=) c.3360C= (p.Ser1120=) c.381C= (p.Ser127=) c.480C= (p.Ser160=) c.7380C= (p.Ser2460=) c.149C= (n.149C=) c.7377C= (p.Ser2459=) c.7389C= (p.Ser2463=) c.7368C= (p.Ser2456=) c.7023C= (p.Ser2341=) c.3369C= (p.Ser1123=) c.7263C= (p.Ser2421=) c.7254C= (p.Ser2418=) c.7269C= (p.Ser2423=) c.1566C= (p.Ser522=) | |
X | g.31774110G>T | CA515859381 | DMD | c.2238C>A (p.Ser746=) c.12C>A (p.Ser4=) n.1053C>A n.975C>A n.884C>A c.7392C>A (p.Ser2464=) c.3360C>A (p.Ser1120=) c.381C>A (p.Ser127=) c.480C>A (p.Ser160=) c.7380C>A (p.Ser2460=) c.149C>A (n.149C>A) c.7377C>A (p.Ser2459=) c.7389C>A (p.Ser2463=) c.7368C>A (p.Ser2456=) c.7023C>A (p.Ser2341=) c.3369C>A (p.Ser1123=) c.7263C>A (p.Ser2421=) c.7254C>A (p.Ser2418=) c.7269C>A (p.Ser2423=) c.1566C>A (p.Ser522=) | |
X | g.31774111G>A | CA412659029 | DMD | c.2237C>T (p.Ser746Phe) c.11C>T (p.Ser4Phe) n.1052C>T n.974C>T n.883C>T c.7391C>T (p.Ser2464Phe) c.3359C>T (p.Ser1120Phe) c.380C>T (p.Ser127Phe) c.479C>T (p.Ser160Phe) c.7379C>T (p.Ser2460Phe) c.148C>T (n.148C>T) c.7376C>T (p.Ser2459Phe) c.7388C>T (p.Ser2463Phe) c.7367C>T (p.Ser2456Phe) c.7022C>T (p.Ser2341Phe) c.3368C>T (p.Ser1123Phe) c.7262C>T (p.Ser2421Phe) c.7253C>T (p.Ser2418Phe) c.7268C>T (p.Ser2423Phe) c.1565C>T (p.Ser522Phe) | gnomAD v4 |
X | g.31774111G>C | CA412659031 | DMD | c.2237C>G (p.Ser746Cys) c.11C>G (p.Ser4Cys) n.1052C>G n.974C>G n.883C>G c.7391C>G (p.Ser2464Cys) c.3359C>G (p.Ser1120Cys) c.380C>G (p.Ser127Cys) c.479C>G (p.Ser160Cys) c.7379C>G (p.Ser2460Cys) c.148C>G (n.148C>G) c.7376C>G (p.Ser2459Cys) c.7388C>G (p.Ser2463Cys) c.7367C>G (p.Ser2456Cys) c.7022C>G (p.Ser2341Cys) c.3368C>G (p.Ser1123Cys) c.7262C>G (p.Ser2421Cys) c.7253C>G (p.Ser2418Cys) c.7268C>G (p.Ser2423Cys) c.1565C>G (p.Ser522Cys) | |
X | g.31774111G>T | CA412659030 | DMD | c.2237C>A (p.Ser746Tyr) c.11C>A (p.Ser4Tyr) n.1052C>A n.974C>A n.883C>A c.7391C>A (p.Ser2464Tyr) c.3359C>A (p.Ser1120Tyr) c.380C>A (p.Ser127Tyr) c.479C>A (p.Ser160Tyr) c.7379C>A (p.Ser2460Tyr) c.148C>A (n.148C>A) c.7376C>A (p.Ser2459Tyr) c.7388C>A (p.Ser2463Tyr) c.7367C>A (p.Ser2456Tyr) c.7022C>A (p.Ser2341Tyr) c.3368C>A (p.Ser1123Tyr) c.7262C>A (p.Ser2421Tyr) c.7253C>A (p.Ser2418Tyr) c.7268C>A (p.Ser2423Tyr) c.1565C>A (p.Ser522Tyr) | |
X | g.31774111_31774112delinsAT | CA2580100609 | DMD | c.2236_2237delinsAT (p.Ser746Ile) c.10_11delinsAT (p.Ser4Ile) n.1051_1052delinsAT n.973_974delinsAT n.882_883delinsAT c.7390_7391delinsAT (p.Ser2464Ile) c.3358_3359delinsAT (p.Ser1120Ile) c.379_380delinsAT (p.Ser127Ile) c.478_479delinsAT (p.Ser160Ile) c.7378_7379delinsAT (p.Ser2460Ile) c.147_148delinsAT (n.147_148delinsAT) c.7375_7376delinsAT (p.Ser2459Ile) c.7387_7388delinsAT (p.Ser2463Ile) c.7366_7367delinsAT (p.Ser2456Ile) c.7021_7022delinsAT (p.Ser2341Ile) c.3367_3368delinsAT (p.Ser1123Ile) c.7261_7262delinsAT (p.Ser2421Ile) c.7252_7253delinsAT (p.Ser2418Ile) c.7267_7268delinsAT (p.Ser2423Ile) c.1564_1565delinsAT (p.Ser522Ile) | ClinVar |
X | g.31774112A>C | CA412659032 | DMD | c.2236T>G (p.Ser746Ala) c.10T>G (p.Ser4Ala) n.1051T>G n.973T>G n.882T>G c.7390T>G (p.Ser2464Ala) c.3358T>G (p.Ser1120Ala) c.379T>G (p.Ser127Ala) c.478T>G (p.Ser160Ala) c.7378T>G (p.Ser2460Ala) c.147T>G (n.147T>G) c.7375T>G (p.Ser2459Ala) c.7387T>G (p.Ser2463Ala) c.7366T>G (p.Ser2456Ala) c.7021T>G (p.Ser2341Ala) c.3367T>G (p.Ser1123Ala) c.7261T>G (p.Ser2421Ala) c.7252T>G (p.Ser2418Ala) c.7267T>G (p.Ser2423Ala) c.1564T>G (p.Ser522Ala) | |
X | g.31774112A>G | CA412659033 | DMD | c.2236T>C (p.Ser746Pro) c.10T>C (p.Ser4Pro) n.1051T>C n.973T>C n.882T>C c.7390T>C (p.Ser2464Pro) c.3358T>C (p.Ser1120Pro) c.379T>C (p.Ser127Pro) c.478T>C (p.Ser160Pro) c.7378T>C (p.Ser2460Pro) c.147T>C (n.147T>C) c.7375T>C (p.Ser2459Pro) c.7387T>C (p.Ser2463Pro) c.7366T>C (p.Ser2456Pro) c.7021T>C (p.Ser2341Pro) c.3367T>C (p.Ser1123Pro) c.7261T>C (p.Ser2421Pro) c.7252T>C (p.Ser2418Pro) c.7267T>C (p.Ser2423Pro) c.1564T>C (p.Ser522Pro) | |
X | g.31774112A>T | CA412659034 | DMD | c.2236T>A (p.Ser746Thr) c.10T>A (p.Ser4Thr) n.1051T>A n.973T>A n.882T>A c.7390T>A (p.Ser2464Thr) c.3358T>A (p.Ser1120Thr) c.379T>A (p.Ser127Thr) c.478T>A (p.Ser160Thr) c.7378T>A (p.Ser2460Thr) c.147T>A (n.147T>A) c.7375T>A (p.Ser2459Thr) c.7387T>A (p.Ser2463Thr) c.7366T>A (p.Ser2456Thr) c.7021T>A (p.Ser2341Thr) c.3367T>A (p.Ser1123Thr) c.7261T>A (p.Ser2421Thr) c.7252T>A (p.Ser2418Thr) c.7267T>A (p.Ser2423Thr) c.1564T>A (p.Ser522Thr) | gnomAD v4 |
X | g.31774113A>C | CA515859382 | DMD | c.2235T>G (p.Ser745=) c.9T>G (p.Ser3=) n.1050T>G n.972T>G n.881T>G c.7389T>G (p.Ser2463=) c.3357T>G (p.Ser1119=) c.378T>G (p.Ser126=) c.477T>G (p.Ser159=) c.7377T>G (p.Ser2459=) c.146T>G (n.146T>G) c.7374T>G (p.Ser2458=) c.7386T>G (p.Ser2462=) c.7365T>G (p.Ser2455=) c.7020T>G (p.Ser2340=) c.3366T>G (p.Ser1122=) c.7260T>G (p.Ser2420=) c.7251T>G (p.Ser2417=) c.7266T>G (p.Ser2422=) c.1563T>G (p.Ser521=) | |
X | g.31774113A>G | CA515859383 | DMD | c.2235T>C (p.Ser745=) c.9T>C (p.Ser3=) n.1050T>C n.972T>C n.881T>C c.7389T>C (p.Ser2463=) c.3357T>C (p.Ser1119=) c.378T>C (p.Ser126=) c.477T>C (p.Ser159=) c.7377T>C (p.Ser2459=) c.146T>C (n.146T>C) c.7374T>C (p.Ser2458=) c.7386T>C (p.Ser2462=) c.7365T>C (p.Ser2455=) c.7020T>C (p.Ser2340=) c.3366T>C (p.Ser1122=) c.7260T>C (p.Ser2420=) c.7251T>C (p.Ser2417=) c.7266T>C (p.Ser2422=) c.1563T>C (p.Ser521=) | |
X | g.31774113A>T | CA515859384 | DMD | c.2235T>A (p.Ser745=) c.9T>A (p.Ser3=) n.1050T>A n.972T>A n.881T>A c.7389T>A (p.Ser2463=) c.3357T>A (p.Ser1119=) c.378T>A (p.Ser126=) c.477T>A (p.Ser159=) c.7377T>A (p.Ser2459=) c.146T>A (n.146T>A) c.7374T>A (p.Ser2458=) c.7386T>A (p.Ser2462=) c.7365T>A (p.Ser2455=) c.7020T>A (p.Ser2340=) c.3366T>A (p.Ser1122=) c.7260T>A (p.Ser2420=) c.7251T>A (p.Ser2417=) c.7266T>A (p.Ser2422=) c.1563T>A (p.Ser521=) | |
X | g.31774121_31774140del | CA2695232459 | DMD | c.2216_2235del (p.Ser739PhefsTer27) c.-11_9del n.1031_1050del n.953_972del n.862_881del c.7370_7389del (p.Ser2457PhefsTer27) c.3338_3357del (p.Ser1113PhefsTer27) c.359_378del (p.Ser120PhefsTer27) c.458_477del (p.Ser153PhefsTer27) c.7358_7377del (p.Ser2453PhefsTer27) c.127_146del (n.127_146del) c.7355_7374del (p.Ser2452PhefsTer27) c.7367_7386del (p.Ser2456PhefsTer27) c.7346_7365del (p.Ser2449PhefsTer27) c.7001_7020del (p.Ser2334PhefsTer27) c.3347_3366del (p.Ser1116PhefsTer27) c.7241_7260del (p.Ser2414PhefsTer27) c.7232_7251del (p.Ser2411PhefsTer27) c.7247_7266del (p.Ser2416PhefsTer27) c.1544_1563del (p.Ser515PhefsTer27) | |
X | g.31774114G>A | CA412659035 | DMD | c.2234C>T (p.Ser745Phe) c.8C>T (p.Ser3Phe) n.1049C>T n.971C>T n.880C>T c.7388C>T (p.Ser2463Phe) c.3356C>T (p.Ser1119Phe) c.377C>T (p.Ser126Phe) c.476C>T (p.Ser159Phe) c.7376C>T (p.Ser2459Phe) c.145C>T (n.145C>T) c.7373C>T (p.Ser2458Phe) c.7385C>T (p.Ser2462Phe) c.7364C>T (p.Ser2455Phe) c.7019C>T (p.Ser2340Phe) c.3365C>T (p.Ser1122Phe) c.7259C>T (p.Ser2420Phe) c.7250C>T (p.Ser2417Phe) c.7265C>T (p.Ser2422Phe) c.1562C>T (p.Ser521Phe) | |
X | g.31774114G>C | CA412659036 | DMD | c.2234C>G (p.Ser745Cys) c.8C>G (p.Ser3Cys) n.1049C>G n.971C>G n.880C>G c.7388C>G (p.Ser2463Cys) c.3356C>G (p.Ser1119Cys) c.377C>G (p.Ser126Cys) c.476C>G (p.Ser159Cys) c.7376C>G (p.Ser2459Cys) c.145C>G (n.145C>G) c.7373C>G (p.Ser2458Cys) c.7385C>G (p.Ser2462Cys) c.7364C>G (p.Ser2455Cys) c.7019C>G (p.Ser2340Cys) c.3365C>G (p.Ser1122Cys) c.7259C>G (p.Ser2420Cys) c.7250C>G (p.Ser2417Cys) c.7265C>G (p.Ser2422Cys) c.1562C>G (p.Ser521Cys) | |
X | g.31774114G>T | CA412659037 | DMD | c.2234C>A (p.Ser745Tyr) c.8C>A (p.Ser3Tyr) n.1049C>A n.971C>A n.880C>A c.7388C>A (p.Ser2463Tyr) c.3356C>A (p.Ser1119Tyr) c.377C>A (p.Ser126Tyr) c.476C>A (p.Ser159Tyr) c.7376C>A (p.Ser2459Tyr) c.145C>A (n.145C>A) c.7373C>A (p.Ser2458Tyr) c.7385C>A (p.Ser2462Tyr) c.7364C>A (p.Ser2455Tyr) c.7019C>A (p.Ser2340Tyr) c.3365C>A (p.Ser1122Tyr) c.7259C>A (p.Ser2420Tyr) c.7250C>A (p.Ser2417Tyr) c.7265C>A (p.Ser2422Tyr) c.1562C>A (p.Ser521Tyr) | |
X | g.31774115A>C | CA412659038 | DMD | c.2233T>G (p.Ser745Ala) c.7T>G (p.Ser3Ala) n.1048T>G n.970T>G n.879T>G c.7387T>G (p.Ser2463Ala) c.3355T>G (p.Ser1119Ala) c.376T>G (p.Ser126Ala) c.475T>G (p.Ser159Ala) c.7375T>G (p.Ser2459Ala) c.144T>G (n.144T>G) c.7372T>G (p.Ser2458Ala) c.7384T>G (p.Ser2462Ala) c.7363T>G (p.Ser2455Ala) c.7018T>G (p.Ser2340Ala) c.3364T>G (p.Ser1122Ala) c.7258T>G (p.Ser2420Ala) c.7249T>G (p.Ser2417Ala) c.7264T>G (p.Ser2422Ala) c.1561T>G (p.Ser521Ala) | |
X | g.31774115A>G | CA412659039 | DMD | c.2233T>C (p.Ser745Pro) c.7T>C (p.Ser3Pro) n.1048T>C n.970T>C n.879T>C c.7387T>C (p.Ser2463Pro) c.3355T>C (p.Ser1119Pro) c.376T>C (p.Ser126Pro) c.475T>C (p.Ser159Pro) c.7375T>C (p.Ser2459Pro) c.144T>C (n.144T>C) c.7372T>C (p.Ser2458Pro) c.7384T>C (p.Ser2462Pro) c.7363T>C (p.Ser2455Pro) c.7018T>C (p.Ser2340Pro) c.3364T>C (p.Ser1122Pro) c.7258T>C (p.Ser2420Pro) c.7249T>C (p.Ser2417Pro) c.7264T>C (p.Ser2422Pro) c.1561T>C (p.Ser521Pro) | |
X | g.31774115A>T | CA412659040 | DMD | c.2233T>A (p.Ser745Thr) c.7T>A (p.Ser3Thr) n.1048T>A n.970T>A n.879T>A c.7387T>A (p.Ser2463Thr) c.3355T>A (p.Ser1119Thr) c.376T>A (p.Ser126Thr) c.475T>A (p.Ser159Thr) c.7375T>A (p.Ser2459Thr) c.144T>A (n.144T>A) c.7372T>A (p.Ser2458Thr) c.7384T>A (p.Ser2462Thr) c.7363T>A (p.Ser2455Thr) c.7018T>A (p.Ser2340Thr) c.3364T>A (p.Ser1122Thr) c.7258T>A (p.Ser2420Thr) c.7249T>A (p.Ser2417Thr) c.7264T>A (p.Ser2422Thr) c.1561T>A (p.Ser521Thr) | |
X | g.31774116T>A | CA515859385 | DMD | c.2232A>T (p.Pro744=) c.6A>T (p.Pro2=) n.1047A>T n.969A>T n.878A>T c.7386A>T (p.Pro2462=) c.3354A>T (p.Pro1118=) c.375A>T (p.Pro125=) c.474A>T (p.Pro158=) c.7374A>T (p.Pro2458=) c.143A>T (n.143A>T) c.7371A>T (p.Pro2457=) c.7383A>T (p.Pro2461=) c.7362A>T (p.Pro2454=) c.7017A>T (p.Pro2339=) c.3363A>T (p.Pro1121=) c.7257A>T (p.Pro2419=) c.7248A>T (p.Pro2416=) c.7263A>T (p.Pro2421=) c.1560A>T (p.Pro520=) | |
X | g.31774116T>C | CA10378282 | DMD | c.2232A>G (p.Pro744=) c.6A>G (p.Pro2=) n.1047A>G n.969A>G n.878A>G c.7386A>G (p.Pro2462=) c.3354A>G (p.Pro1118=) c.375A>G (p.Pro125=) c.474A>G (p.Pro158=) c.7374A>G (p.Pro2458=) c.143A>G (n.143A>G) c.7371A>G (p.Pro2457=) c.7383A>G (p.Pro2461=) c.7362A>G (p.Pro2454=) c.7017A>G (p.Pro2339=) c.3363A>G (p.Pro1121=) c.7257A>G (p.Pro2419=) c.7248A>G (p.Pro2416=) c.7263A>G (p.Pro2421=) c.1560A>G (p.Pro520=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31774116T>G | CA515859386 | DMD | c.2232A>C (p.Pro744=) c.6A>C (p.Pro2=) n.1047A>C n.969A>C n.878A>C c.7386A>C (p.Pro2462=) c.3354A>C (p.Pro1118=) c.375A>C (p.Pro125=) c.474A>C (p.Pro158=) c.7374A>C (p.Pro2458=) c.143A>C (n.143A>C) c.7371A>C (p.Pro2457=) c.7383A>C (p.Pro2461=) c.7362A>C (p.Pro2454=) c.7017A>C (p.Pro2339=) c.3363A>C (p.Pro1121=) c.7257A>C (p.Pro2419=) c.7248A>C (p.Pro2416=) c.7263A>C (p.Pro2421=) c.1560A>C (p.Pro520=) | |
X | g.31774116T= | CA2422548657 | DMD | c.2232A= (p.Pro744=) c.6A= (p.Pro2=) n.1047A= n.969A= n.878A= c.7386A= (p.Pro2462=) c.3354A= (p.Pro1118=) c.375A= (p.Pro125=) c.474A= (p.Pro158=) c.7374A= (p.Pro2458=) c.143A= (n.143A=) c.7371A= (p.Pro2457=) c.7383A= (p.Pro2461=) c.7362A= (p.Pro2454=) c.7017A= (p.Pro2339=) c.3363A= (p.Pro1121=) c.7257A= (p.Pro2419=) c.7248A= (p.Pro2416=) c.7263A= (p.Pro2421=) c.1560A= (p.Pro520=) | |
X | g.31774117G>A | CA412659041 | DMD | c.2231C>T (p.Pro744Leu) c.5C>T (p.Pro2Leu) n.1046C>T n.968C>T n.877C>T c.7385C>T (p.Pro2462Leu) c.3353C>T (p.Pro1118Leu) c.374C>T (p.Pro125Leu) c.473C>T (p.Pro158Leu) c.7373C>T (p.Pro2458Leu) c.142C>T (n.142C>T) c.7370C>T (p.Pro2457Leu) c.7382C>T (p.Pro2461Leu) c.7361C>T (p.Pro2454Leu) c.7016C>T (p.Pro2339Leu) c.3362C>T (p.Pro1121Leu) c.7256C>T (p.Pro2419Leu) c.7247C>T (p.Pro2416Leu) c.7262C>T (p.Pro2421Leu) c.1559C>T (p.Pro520Leu) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774117G>C | CA412659042 | DMD | c.2231C>G (p.Pro744Arg) c.5C>G (p.Pro2Arg) n.1046C>G n.968C>G n.877C>G c.7385C>G (p.Pro2462Arg) c.3353C>G (p.Pro1118Arg) c.374C>G (p.Pro125Arg) c.473C>G (p.Pro158Arg) c.7373C>G (p.Pro2458Arg) c.142C>G (n.142C>G) c.7370C>G (p.Pro2457Arg) c.7382C>G (p.Pro2461Arg) c.7361C>G (p.Pro2454Arg) c.7016C>G (p.Pro2339Arg) c.3362C>G (p.Pro1121Arg) c.7256C>G (p.Pro2419Arg) c.7247C>G (p.Pro2416Arg) c.7262C>G (p.Pro2421Arg) c.1559C>G (p.Pro520Arg) | |
X | g.31774117G= | CA2422548658 | DMD | c.2231C= (p.Pro744=) c.5C= (p.Pro2=) n.1046C= n.968C= n.877C= c.7385C= (p.Pro2462=) c.3353C= (p.Pro1118=) c.374C= (p.Pro125=) c.473C= (p.Pro158=) c.7373C= (p.Pro2458=) c.142C= (n.142C=) c.7370C= (p.Pro2457=) c.7382C= (p.Pro2461=) c.7361C= (p.Pro2454=) c.7016C= (p.Pro2339=) c.3362C= (p.Pro1121=) c.7256C= (p.Pro2419=) c.7247C= (p.Pro2416=) c.7262C= (p.Pro2421=) c.1559C= (p.Pro520=) | |
X | g.31774117G>T | CA412659043 | DMD | c.2231C>A (p.Pro744Gln) c.5C>A (p.Pro2Gln) n.1046C>A n.968C>A n.877C>A c.7385C>A (p.Pro2462Gln) c.3353C>A (p.Pro1118Gln) c.374C>A (p.Pro125Gln) c.473C>A (p.Pro158Gln) c.7373C>A (p.Pro2458Gln) c.142C>A (n.142C>A) c.7370C>A (p.Pro2457Gln) c.7382C>A (p.Pro2461Gln) c.7361C>A (p.Pro2454Gln) c.7016C>A (p.Pro2339Gln) c.3362C>A (p.Pro1121Gln) c.7256C>A (p.Pro2419Gln) c.7247C>A (p.Pro2416Gln) c.7262C>A (p.Pro2421Gln) c.1559C>A (p.Pro520Gln) | ClinVar |
X | g.31774118G>A | CA412659046 | DMD | c.2230C>T (p.Pro744Ser) c.4C>T (p.Pro2Ser) n.1045C>T n.967C>T n.876C>T c.7384C>T (p.Pro2462Ser) c.3352C>T (p.Pro1118Ser) c.373C>T (p.Pro125Ser) c.472C>T (p.Pro158Ser) c.7372C>T (p.Pro2458Ser) c.141C>T (n.141C>T) c.7369C>T (p.Pro2457Ser) c.7381C>T (p.Pro2461Ser) c.7360C>T (p.Pro2454Ser) c.7015C>T (p.Pro2339Ser) c.3361C>T (p.Pro1121Ser) c.7255C>T (p.Pro2419Ser) c.7246C>T (p.Pro2416Ser) c.7261C>T (p.Pro2421Ser) c.1558C>T (p.Pro520Ser) | |
X | g.31774118G>C | CA412659044 | DMD | c.2230C>G (p.Pro744Ala) c.4C>G (p.Pro2Ala) n.1045C>G n.967C>G n.876C>G c.7384C>G (p.Pro2462Ala) c.3352C>G (p.Pro1118Ala) c.373C>G (p.Pro125Ala) c.472C>G (p.Pro158Ala) c.7372C>G (p.Pro2458Ala) c.141C>G (n.141C>G) c.7369C>G (p.Pro2457Ala) c.7381C>G (p.Pro2461Ala) c.7360C>G (p.Pro2454Ala) c.7015C>G (p.Pro2339Ala) c.3361C>G (p.Pro1121Ala) c.7255C>G (p.Pro2419Ala) c.7246C>G (p.Pro2416Ala) c.7261C>G (p.Pro2421Ala) c.1558C>G (p.Pro520Ala) | |
X | g.31774118G>T | CA412659045 | DMD | c.2230C>A (p.Pro744Thr) c.4C>A (p.Pro2Thr) n.1045C>A n.967C>A n.876C>A c.7384C>A (p.Pro2462Thr) c.3352C>A (p.Pro1118Thr) c.373C>A (p.Pro125Thr) c.472C>A (p.Pro158Thr) c.7372C>A (p.Pro2458Thr) c.141C>A (n.141C>A) c.7369C>A (p.Pro2457Thr) c.7381C>A (p.Pro2461Thr) c.7360C>A (p.Pro2454Thr) c.7015C>A (p.Pro2339Thr) c.3361C>A (p.Pro1121Thr) c.7255C>A (p.Pro2419Thr) c.7246C>A (p.Pro2416Thr) c.7261C>A (p.Pro2421Thr) c.1558C>A (p.Pro520Thr) | |
X | g.31774119C>A | CA412659047 | DMD | c.2229G>T (p.Met743Ile) c.3G>T (p.Met1Ile) n.1044G>T n.966G>T n.875G>T c.7383G>T (p.Met2461Ile) c.3351G>T (p.Met1117Ile) c.372G>T (p.Met124Ile) c.471G>T (p.Met157Ile) c.7371G>T (p.Met2457Ile) c.140G>T (n.140G>T) c.7368G>T (p.Met2456Ile) c.7380G>T (p.Met2460Ile) c.7359G>T (p.Met2453Ile) c.7014G>T (p.Met2338Ile) c.3360G>T (p.Met1120Ile) c.7254G>T (p.Met2418Ile) c.7245G>T (p.Met2415Ile) c.7260G>T (p.Met2420Ile) c.1557G>T (p.Met519Ile) | |
X | g.31774119C>G | CA412659048 | DMD | c.2229G>C (p.Met743Ile) c.3G>C (p.Met1Ile) n.1044G>C n.966G>C n.875G>C c.7383G>C (p.Met2461Ile) c.3351G>C (p.Met1117Ile) c.372G>C (p.Met124Ile) c.471G>C (p.Met157Ile) c.7371G>C (p.Met2457Ile) c.140G>C (n.140G>C) c.7368G>C (p.Met2456Ile) c.7380G>C (p.Met2460Ile) c.7359G>C (p.Met2453Ile) c.7014G>C (p.Met2338Ile) c.3360G>C (p.Met1120Ile) c.7254G>C (p.Met2418Ile) c.7245G>C (p.Met2415Ile) c.7260G>C (p.Met2420Ile) c.1557G>C (p.Met519Ile) | |
X | g.31774119C>T | CA412659049 | DMD | c.2229G>A (p.Met743Ile) c.3G>A (p.Met1Ile) n.1044G>A n.966G>A n.875G>A c.7383G>A (p.Met2461Ile) c.3351G>A (p.Met1117Ile) c.372G>A (p.Met124Ile) c.471G>A (p.Met157Ile) c.7371G>A (p.Met2457Ile) c.140G>A (n.140G>A) c.7368G>A (p.Met2456Ile) c.7380G>A (p.Met2460Ile) c.7359G>A (p.Met2453Ile) c.7014G>A (p.Met2338Ile) c.3360G>A (p.Met1120Ile) c.7254G>A (p.Met2418Ile) c.7245G>A (p.Met2415Ile) c.7260G>A (p.Met2420Ile) c.1557G>A (p.Met519Ile) | COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774120A>C | CA412659050 | DMD | c.2228T>G (p.Met743Arg) c.2T>G (p.Met1Arg) n.1043T>G n.965T>G n.874T>G c.7382T>G (p.Met2461Arg) c.3350T>G (p.Met1117Arg) c.371T>G (p.Met124Arg) c.470T>G (p.Met157Arg) c.7370T>G (p.Met2457Arg) c.139T>G (n.139T>G) c.7367T>G (p.Met2456Arg) c.7379T>G (p.Met2460Arg) c.7358T>G (p.Met2453Arg) c.7013T>G (p.Met2338Arg) c.3359T>G (p.Met1120Arg) c.7253T>G (p.Met2418Arg) c.7244T>G (p.Met2415Arg) c.7259T>G (p.Met2420Arg) c.1556T>G (p.Met519Arg) | |
X | g.31774120A>G | CA412659051 | DMD | c.2228T>C (p.Met743Thr) c.2T>C (p.Met1Thr) n.1043T>C n.965T>C n.874T>C c.7382T>C (p.Met2461Thr) c.3350T>C (p.Met1117Thr) c.371T>C (p.Met124Thr) c.470T>C (p.Met157Thr) c.7370T>C (p.Met2457Thr) c.139T>C (n.139T>C) c.7367T>C (p.Met2456Thr) c.7379T>C (p.Met2460Thr) c.7358T>C (p.Met2453Thr) c.7013T>C (p.Met2338Thr) c.3359T>C (p.Met1120Thr) c.7253T>C (p.Met2418Thr) c.7244T>C (p.Met2415Thr) c.7259T>C (p.Met2420Thr) c.1556T>C (p.Met519Thr) | gnomAD v4 |
X | g.31774120A>T | CA412659052 | DMD | c.2228T>A (p.Met743Lys) c.2T>A (p.Met1Lys) n.1043T>A n.965T>A n.874T>A c.7382T>A (p.Met2461Lys) c.3350T>A (p.Met1117Lys) c.371T>A (p.Met124Lys) c.470T>A (p.Met157Lys) c.7370T>A (p.Met2457Lys) c.139T>A (n.139T>A) c.7367T>A (p.Met2456Lys) c.7379T>A (p.Met2460Lys) c.7358T>A (p.Met2453Lys) c.7013T>A (p.Met2338Lys) c.3359T>A (p.Met1120Lys) c.7253T>A (p.Met2418Lys) c.7244T>A (p.Met2415Lys) c.7259T>A (p.Met2420Lys) c.1556T>A (p.Met519Lys) | |
X | g.31774121T>A | CA412659053 | DMD | c.2227A>T (p.Met743Leu) c.1A>T (p.Met1Leu) n.1042A>T n.964A>T n.873A>T c.7381A>T (p.Met2461Leu) c.3349A>T (p.Met1117Leu) c.370A>T (p.Met124Leu) c.469A>T (p.Met157Leu) c.7369A>T (p.Met2457Leu) c.138A>T (n.138A>T) c.7366A>T (p.Met2456Leu) c.7378A>T (p.Met2460Leu) c.7357A>T (p.Met2453Leu) c.7012A>T (p.Met2338Leu) c.3358A>T (p.Met1120Leu) c.7252A>T (p.Met2418Leu) c.7243A>T (p.Met2415Leu) c.7258A>T (p.Met2420Leu) c.1555A>T (p.Met519Leu) | |
X | g.31774121T>C | CA412659054 | DMD | c.2227A>G (p.Met743Val) c.1A>G (p.Met1Val) n.1042A>G n.964A>G n.873A>G c.7381A>G (p.Met2461Val) c.3349A>G (p.Met1117Val) c.370A>G (p.Met124Val) c.469A>G (p.Met157Val) c.7369A>G (p.Met2457Val) c.138A>G (n.138A>G) c.7366A>G (p.Met2456Val) c.7378A>G (p.Met2460Val) c.7357A>G (p.Met2453Val) c.7012A>G (p.Met2338Val) c.3358A>G (p.Met1120Val) c.7252A>G (p.Met2418Val) c.7243A>G (p.Met2415Val) c.7258A>G (p.Met2420Val) c.1555A>G (p.Met519Val) | |
X | g.31774121T>G | CA412659055 | DMD | c.2227A>C (p.Met743Leu) c.1A>C (p.Met1Leu) n.1042A>C n.964A>C n.873A>C c.7381A>C (p.Met2461Leu) c.3349A>C (p.Met1117Leu) c.370A>C (p.Met124Leu) c.469A>C (p.Met157Leu) c.7369A>C (p.Met2457Leu) c.138A>C (n.138A>C) c.7366A>C (p.Met2456Leu) c.7378A>C (p.Met2460Leu) c.7357A>C (p.Met2453Leu) c.7012A>C (p.Met2338Leu) c.3358A>C (p.Met1120Leu) c.7252A>C (p.Met2418Leu) c.7243A>C (p.Met2415Leu) c.7258A>C (p.Met2420Leu) c.1555A>C (p.Met519Leu) | |
X | g.31774123del | CA2573158639 | DMD | c.2227del (p.Met743CysfsTer5) c.1del (p.Met1CysfsTer5) n.1042del n.964del n.873del c.7381del (p.Met2461CysfsTer5) c.3349del (p.Met1117CysfsTer5) c.370del (p.Met124CysfsTer5) c.469del (p.Met157CysfsTer5) c.7369del (p.Met2457CysfsTer5) c.138del (n.138del) c.7366del (p.Met2456CysfsTer5) c.7378del (p.Met2460CysfsTer5) c.7357del (p.Met2453CysfsTer5) c.7012del (p.Met2338CysfsTer5) c.3358del (p.Met1120CysfsTer5) c.7252del (p.Met2418CysfsTer5) c.7243del (p.Met2415CysfsTer5) c.7258del (p.Met2420CysfsTer5) c.1555del (p.Met519CysfsTer5) | ClinVar dbSNP |
X | g.31774122T>A | CA412659056 | DMD | c.2226A>T (p.Glu742Asp) c.-1A>T (n.-1A>T) n.1041A>T n.963A>T n.872A>T c.7380A>T (p.Glu2460Asp) c.3348A>T (p.Glu1116Asp) c.369A>T (p.Glu123Asp) c.468A>T (p.Glu156Asp) c.7368A>T (p.Glu2456Asp) c.137A>T (n.137A>T) c.7365A>T (p.Glu2455Asp) c.7377A>T (p.Glu2459Asp) c.7356A>T (p.Glu2452Asp) c.7011A>T (p.Glu2337Asp) c.3357A>T (p.Glu1119Asp) c.7251A>T (p.Glu2417Asp) c.7242A>T (p.Glu2414Asp) c.7257A>T (p.Glu2419Asp) c.1554A>T (p.Glu518Asp) | |
X | g.31774122T>C | CA515859387 | DMD | c.2226A>G (p.Glu742=) c.-1A>G (n.-1A>G) n.1041A>G n.963A>G n.872A>G c.7380A>G (p.Glu2460=) c.3348A>G (p.Glu1116=) c.369A>G (p.Glu123=) c.468A>G (p.Glu156=) c.7368A>G (p.Glu2456=) c.137A>G (n.137A>G) c.7365A>G (p.Glu2455=) c.7377A>G (p.Glu2459=) c.7356A>G (p.Glu2452=) c.7011A>G (p.Glu2337=) c.3357A>G (p.Glu1119=) c.7251A>G (p.Glu2417=) c.7242A>G (p.Glu2414=) c.7257A>G (p.Glu2419=) c.1554A>G (p.Glu518=) | |
X | g.31774122T>G | CA412659057 | DMD | c.2226A>C (p.Glu742Asp) c.-1A>C (n.-1A>C) n.1041A>C n.963A>C n.872A>C c.7380A>C (p.Glu2460Asp) c.3348A>C (p.Glu1116Asp) c.369A>C (p.Glu123Asp) c.468A>C (p.Glu156Asp) c.7368A>C (p.Glu2456Asp) c.137A>C (n.137A>C) c.7365A>C (p.Glu2455Asp) c.7377A>C (p.Glu2459Asp) c.7356A>C (p.Glu2452Asp) c.7011A>C (p.Glu2337Asp) c.3357A>C (p.Glu1119Asp) c.7251A>C (p.Glu2417Asp) c.7242A>C (p.Glu2414Asp) c.7257A>C (p.Glu2419Asp) c.1554A>C (p.Glu518Asp) | |
X | g.31774123T>A | CA412659058 | DMD | c.2225A>T (p.Glu742Val) c.-2A>T (n.-2A>T) n.1040A>T n.962A>T n.871A>T c.7379A>T (p.Glu2460Val) c.3347A>T (p.Glu1116Val) c.368A>T (p.Glu123Val) c.467A>T (p.Glu156Val) c.7367A>T (p.Glu2456Val) c.136A>T (n.136A>T) c.7364A>T (p.Glu2455Val) c.7376A>T (p.Glu2459Val) c.7355A>T (p.Glu2452Val) c.7010A>T (p.Glu2337Val) c.3356A>T (p.Glu1119Val) c.7250A>T (p.Glu2417Val) c.7241A>T (p.Glu2414Val) c.7256A>T (p.Glu2419Val) c.1553A>T (p.Glu518Val) | |
X | g.31774123T>C | CA412659060 | DMD | c.2225A>G (p.Glu742Gly) c.-2A>G (n.-2A>G) n.1040A>G n.962A>G n.871A>G c.7379A>G (p.Glu2460Gly) c.3347A>G (p.Glu1116Gly) c.368A>G (p.Glu123Gly) c.467A>G (p.Glu156Gly) c.7367A>G (p.Glu2456Gly) c.136A>G (n.136A>G) c.7364A>G (p.Glu2455Gly) c.7376A>G (p.Glu2459Gly) c.7355A>G (p.Glu2452Gly) c.7010A>G (p.Glu2337Gly) c.3356A>G (p.Glu1119Gly) c.7250A>G (p.Glu2417Gly) c.7241A>G (p.Glu2414Gly) c.7256A>G (p.Glu2419Gly) c.1553A>G (p.Glu518Gly) | |
X | g.31774123T>G | CA412659059 | DMD | c.2225A>C (p.Glu742Ala) c.-2A>C (n.-2A>C) n.1040A>C n.962A>C n.871A>C c.7379A>C (p.Glu2460Ala) c.3347A>C (p.Glu1116Ala) c.368A>C (p.Glu123Ala) c.467A>C (p.Glu156Ala) c.7367A>C (p.Glu2456Ala) c.136A>C (n.136A>C) c.7364A>C (p.Glu2455Ala) c.7376A>C (p.Glu2459Ala) c.7355A>C (p.Glu2452Ala) c.7010A>C (p.Glu2337Ala) c.3356A>C (p.Glu1119Ala) c.7250A>C (p.Glu2417Ala) c.7241A>C (p.Glu2414Ala) c.7256A>C (p.Glu2419Ala) c.1553A>C (p.Glu518Ala) | |
X | g.31774124C>A | CA412659061 | DMD | c.2224G>T (p.Glu742Ter) c.-3G>T (n.-3G>T) n.1039G>T n.961G>T n.870G>T c.7378G>T (p.Glu2460Ter) c.3346G>T (p.Glu1116Ter) c.367G>T (p.Glu123Ter) c.466G>T (p.Glu156Ter) c.7366G>T (p.Glu2456Ter) c.135G>T (n.135G>T) c.7363G>T (p.Glu2455Ter) c.7375G>T (p.Glu2459Ter) c.7354G>T (p.Glu2452Ter) c.7009G>T (p.Glu2337Ter) c.3355G>T (p.Glu1119Ter) c.7249G>T (p.Glu2417Ter) c.7240G>T (p.Glu2414Ter) c.7255G>T (p.Glu2419Ter) c.1552G>T (p.Glu518Ter) | ClinVar dbSNP |
X | g.31774124C= | CA2422548659 | DMD | c.2224G= (p.Glu742=) c.-3G= (n.-3G=) n.1039G= n.961G= n.870G= c.7378G= (p.Glu2460=) c.3346G= (p.Glu1116=) c.367G= (p.Glu123=) c.466G= (p.Glu156=) c.7366G= (p.Glu2456=) c.135G= (n.135G=) c.7363G= (p.Glu2455=) c.7375G= (p.Glu2459=) c.7354G= (p.Glu2452=) c.7009G= (p.Glu2337=) c.3355G= (p.Glu1119=) c.7249G= (p.Glu2417=) c.7240G= (p.Glu2414=) c.7255G= (p.Glu2419=) c.1552G= (p.Glu518=) | |
X | g.31774124C>G | CA412659062 | DMD | c.2224G>C (p.Glu742Gln) c.-3G>C (n.-3G>C) n.1039G>C n.961G>C n.870G>C c.7378G>C (p.Glu2460Gln) c.3346G>C (p.Glu1116Gln) c.367G>C (p.Glu123Gln) c.466G>C (p.Glu156Gln) c.7366G>C (p.Glu2456Gln) c.135G>C (n.135G>C) c.7363G>C (p.Glu2455Gln) c.7375G>C (p.Glu2459Gln) c.7354G>C (p.Glu2452Gln) c.7009G>C (p.Glu2337Gln) c.3355G>C (p.Glu1119Gln) c.7249G>C (p.Glu2417Gln) c.7240G>C (p.Glu2414Gln) c.7255G>C (p.Glu2419Gln) c.1552G>C (p.Glu518Gln) | |
X | g.31774124C>T | CA412659063 | DMD | c.2224G>A (p.Glu742Lys) c.-3G>A (n.-3G>A) n.1039G>A n.961G>A n.870G>A c.7378G>A (p.Glu2460Lys) c.3346G>A (p.Glu1116Lys) c.367G>A (p.Glu123Lys) c.466G>A (p.Glu156Lys) c.7366G>A (p.Glu2456Lys) c.135G>A (n.135G>A) c.7363G>A (p.Glu2455Lys) c.7375G>A (p.Glu2459Lys) c.7354G>A (p.Glu2452Lys) c.7009G>A (p.Glu2337Lys) c.3355G>A (p.Glu1119Lys) c.7249G>A (p.Glu2417Lys) c.7240G>A (p.Glu2414Lys) c.7255G>A (p.Glu2419Lys) c.1552G>A (p.Glu518Lys) | |
X | g.31774125T>A | CA515859388 | DMD | c.2223A>T (p.Leu741=) c.-4A>T (n.-4A>T) n.1038A>T n.960A>T n.869A>T c.7377A>T (p.Leu2459=) c.3345A>T (p.Leu1115=) c.366A>T (p.Leu122=) c.465A>T (p.Leu155=) c.7365A>T (p.Leu2455=) c.134A>T (n.134A>T) c.7362A>T (p.Leu2454=) c.7374A>T (p.Leu2458=) c.7353A>T (p.Leu2451=) c.7008A>T (p.Leu2336=) c.3354A>T (p.Leu1118=) c.7248A>T (p.Leu2416=) c.7239A>T (p.Leu2413=) c.7254A>T (p.Leu2418=) c.1551A>T (p.Leu517=) | |
X | g.31774125T>C | CA515859389 | DMD | c.2223A>G (p.Leu741=) c.-4A>G (n.-4A>G) n.1038A>G n.960A>G n.869A>G c.7377A>G (p.Leu2459=) c.3345A>G (p.Leu1115=) c.366A>G (p.Leu122=) c.465A>G (p.Leu155=) c.7365A>G (p.Leu2455=) c.134A>G (n.134A>G) c.7362A>G (p.Leu2454=) c.7374A>G (p.Leu2458=) c.7353A>G (p.Leu2451=) c.7008A>G (p.Leu2336=) c.3354A>G (p.Leu1118=) c.7248A>G (p.Leu2416=) c.7239A>G (p.Leu2413=) c.7254A>G (p.Leu2418=) c.1551A>G (p.Leu517=) | |
X | g.31774125T>G | CA515859390 | DMD | c.2223A>C (p.Leu741=) c.-4A>C (n.-4A>C) n.1038A>C n.960A>C n.869A>C c.7377A>C (p.Leu2459=) c.3345A>C (p.Leu1115=) c.366A>C (p.Leu122=) c.465A>C (p.Leu155=) c.7365A>C (p.Leu2455=) c.134A>C (n.134A>C) c.7362A>C (p.Leu2454=) c.7374A>C (p.Leu2458=) c.7353A>C (p.Leu2451=) c.7008A>C (p.Leu2336=) c.3354A>C (p.Leu1118=) c.7248A>C (p.Leu2416=) c.7239A>C (p.Leu2413=) c.7254A>C (p.Leu2418=) c.1551A>C (p.Leu517=) | |
X | g.31774126A= | CA2422548660 | DMD | c.2222T= (p.Leu741=) c.-5T= (n.-5T=) n.1037T= n.959T= n.868T= c.7376T= (p.Leu2459=) c.3344T= (p.Leu1115=) c.365T= (p.Leu122=) c.464T= (p.Leu155=) c.7364T= (p.Leu2455=) c.133T= (n.133T=) c.7361T= (p.Leu2454=) c.7373T= (p.Leu2458=) c.7352T= (p.Leu2451=) c.7007T= (p.Leu2336=) c.3353T= (p.Leu1118=) c.7247T= (p.Leu2416=) c.7238T= (p.Leu2413=) c.7253T= (p.Leu2418=) c.1550T= (p.Leu517=) | |
X | g.31774126A>C | CA412659064 | DMD | c.2222T>G (p.Leu741Arg) c.-5T>G (n.-5T>G) n.1037T>G n.959T>G n.868T>G c.7376T>G (p.Leu2459Arg) c.3344T>G (p.Leu1115Arg) c.365T>G (p.Leu122Arg) c.464T>G (p.Leu155Arg) c.7364T>G (p.Leu2455Arg) c.133T>G (n.133T>G) c.7361T>G (p.Leu2454Arg) c.7373T>G (p.Leu2458Arg) c.7352T>G (p.Leu2451Arg) c.7007T>G (p.Leu2336Arg) c.3353T>G (p.Leu1118Arg) c.7247T>G (p.Leu2416Arg) c.7238T>G (p.Leu2413Arg) c.7253T>G (p.Leu2418Arg) c.1550T>G (p.Leu517Arg) | |
X | g.31774126A>G | CA412659065 | DMD | c.2222T>C (p.Leu741Pro) c.-5T>C (n.-5T>C) n.1037T>C n.959T>C n.868T>C c.7376T>C (p.Leu2459Pro) c.3344T>C (p.Leu1115Pro) c.365T>C (p.Leu122Pro) c.464T>C (p.Leu155Pro) c.7364T>C (p.Leu2455Pro) c.133T>C (n.133T>C) c.7361T>C (p.Leu2454Pro) c.7373T>C (p.Leu2458Pro) c.7352T>C (p.Leu2451Pro) c.7007T>C (p.Leu2336Pro) c.3353T>C (p.Leu1118Pro) c.7247T>C (p.Leu2416Pro) c.7238T>C (p.Leu2413Pro) c.7253T>C (p.Leu2418Pro) c.1550T>C (p.Leu517Pro) | dbSNP gnomAD v2 gnomAD v4 |
X | g.31774126A>T | CA412659066 | DMD | c.2222T>A (p.Leu741Gln) c.-5T>A (n.-5T>A) n.1037T>A n.959T>A n.868T>A c.7376T>A (p.Leu2459Gln) c.3344T>A (p.Leu1115Gln) c.365T>A (p.Leu122Gln) c.464T>A (p.Leu155Gln) c.7364T>A (p.Leu2455Gln) c.133T>A (n.133T>A) c.7361T>A (p.Leu2454Gln) c.7373T>A (p.Leu2458Gln) c.7352T>A (p.Leu2451Gln) c.7007T>A (p.Leu2336Gln) c.3353T>A (p.Leu1118Gln) c.7247T>A (p.Leu2416Gln) c.7238T>A (p.Leu2413Gln) c.7253T>A (p.Leu2418Gln) c.1550T>A (p.Leu517Gln) | |
X | g.31774127G>A | CA515859391 | DMD | c.2221C>T (p.Leu741=) c.-6C>T (n.-6C>T) n.1036C>T n.958C>T n.867C>T c.7375C>T (p.Leu2459=) c.3343C>T (p.Leu1115=) c.364C>T (p.Leu122=) c.463C>T (p.Leu155=) c.7363C>T (p.Leu2455=) c.132C>T (n.132C>T) c.7360C>T (p.Leu2454=) c.7372C>T (p.Leu2458=) c.7351C>T (p.Leu2451=) c.7006C>T (p.Leu2336=) c.3352C>T (p.Leu1118=) c.7246C>T (p.Leu2416=) c.7237C>T (p.Leu2413=) c.7252C>T (p.Leu2418=) c.1549C>T (p.Leu517=) | |
X | g.31774127G>C | CA328470494 | DMD | c.2221C>G (p.Leu741Val) c.-6C>G (n.-6C>G) n.1036C>G n.958C>G n.867C>G c.7375C>G (p.Leu2459Val) c.3343C>G (p.Leu1115Val) c.364C>G (p.Leu122Val) c.463C>G (p.Leu155Val) c.7363C>G (p.Leu2455Val) c.132C>G (n.132C>G) c.7360C>G (p.Leu2454Val) c.7372C>G (p.Leu2458Val) c.7351C>G (p.Leu2451Val) c.7006C>G (p.Leu2336Val) c.3352C>G (p.Leu1118Val) c.7246C>G (p.Leu2416Val) c.7237C>G (p.Leu2413Val) c.7252C>G (p.Leu2418Val) c.1549C>G (p.Leu517Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774127G= | CA2422548661 | DMD | c.2221C= (p.Leu741=) c.-6C= (n.-6C=) n.1036C= n.958C= n.867C= c.7375C= (p.Leu2459=) c.3343C= (p.Leu1115=) c.364C= (p.Leu122=) c.463C= (p.Leu155=) c.7363C= (p.Leu2455=) c.132C= (n.132C=) c.7360C= (p.Leu2454=) c.7372C= (p.Leu2458=) c.7351C= (p.Leu2451=) c.7006C= (p.Leu2336=) c.3352C= (p.Leu1118=) c.7246C= (p.Leu2416=) c.7237C= (p.Leu2413=) c.7252C= (p.Leu2418=) c.1549C= (p.Leu517=) | |
X | g.31774127G>T | CA412659067 | DMD | c.2221C>A (p.Leu741Ile) c.-6C>A (n.-6C>A) n.1036C>A n.958C>A n.867C>A c.7375C>A (p.Leu2459Ile) c.3343C>A (p.Leu1115Ile) c.364C>A (p.Leu122Ile) c.463C>A (p.Leu155Ile) c.7363C>A (p.Leu2455Ile) c.132C>A (n.132C>A) c.7360C>A (p.Leu2454Ile) c.7372C>A (p.Leu2458Ile) c.7351C>A (p.Leu2451Ile) c.7006C>A (p.Leu2336Ile) c.3352C>A (p.Leu1118Ile) c.7246C>A (p.Leu2416Ile) c.7237C>A (p.Leu2413Ile) c.7252C>A (p.Leu2418Ile) c.1549C>A (p.Leu517Ile) | |
X | g.31774128T>A | CA412659068 | DMD | c.2220A>T (p.Lys740Asn) c.-7A>T (n.-7A>T) n.1035A>T n.957A>T n.866A>T c.7374A>T (p.Lys2458Asn) c.3342A>T (p.Lys1114Asn) c.363A>T (p.Lys121Asn) c.462A>T (p.Lys154Asn) c.7362A>T (p.Lys2454Asn) c.131A>T (n.131A>T) c.7359A>T (p.Lys2453Asn) c.7371A>T (p.Lys2457Asn) c.7350A>T (p.Lys2450Asn) c.7005A>T (p.Lys2335Asn) c.3351A>T (p.Lys1117Asn) c.7245A>T (p.Lys2415Asn) c.7236A>T (p.Lys2412Asn) c.7251A>T (p.Lys2417Asn) c.1548A>T (p.Lys516Asn) | |
X | g.31774128T>C | CA515859392 | DMD | c.2220A>G (p.Lys740=) c.-7A>G (n.-7A>G) n.1035A>G n.957A>G n.866A>G c.7374A>G (p.Lys2458=) c.3342A>G (p.Lys1114=) c.363A>G (p.Lys121=) c.462A>G (p.Lys154=) c.7362A>G (p.Lys2454=) c.131A>G (n.131A>G) c.7359A>G (p.Lys2453=) c.7371A>G (p.Lys2457=) c.7350A>G (p.Lys2450=) c.7005A>G (p.Lys2335=) c.3351A>G (p.Lys1117=) c.7245A>G (p.Lys2415=) c.7236A>G (p.Lys2412=) c.7251A>G (p.Lys2417=) c.1548A>G (p.Lys516=) | |
X | g.31774128T>G | CA412659069 | DMD | c.2220A>C (p.Lys740Asn) c.-7A>C (n.-7A>C) n.1035A>C n.957A>C n.866A>C c.7374A>C (p.Lys2458Asn) c.3342A>C (p.Lys1114Asn) c.363A>C (p.Lys121Asn) c.462A>C (p.Lys154Asn) c.7362A>C (p.Lys2454Asn) c.131A>C (n.131A>C) c.7359A>C (p.Lys2453Asn) c.7371A>C (p.Lys2457Asn) c.7350A>C (p.Lys2450Asn) c.7005A>C (p.Lys2335Asn) c.3351A>C (p.Lys1117Asn) c.7245A>C (p.Lys2415Asn) c.7236A>C (p.Lys2412Asn) c.7251A>C (p.Lys2417Asn) c.1548A>C (p.Lys516Asn) | |
X | g.31774129T>A | CA412659070 | DMD | c.2219A>T (p.Lys740Ile) c.-8A>T (n.-8A>T) n.1034A>T n.956A>T n.865A>T c.7373A>T (p.Lys2458Ile) c.3341A>T (p.Lys1114Ile) c.362A>T (p.Lys121Ile) c.461A>T (p.Lys154Ile) c.7361A>T (p.Lys2454Ile) c.130A>T (n.130A>T) c.7358A>T (p.Lys2453Ile) c.7370A>T (p.Lys2457Ile) c.7349A>T (p.Lys2450Ile) c.7004A>T (p.Lys2335Ile) c.3350A>T (p.Lys1117Ile) c.7244A>T (p.Lys2415Ile) c.7235A>T (p.Lys2412Ile) c.7250A>T (p.Lys2417Ile) c.1547A>T (p.Lys516Ile) | |
X | g.31774129T>C | CA412659071 | DMD | c.2219A>G (p.Lys740Arg) c.-8A>G (n.-8A>G) n.1034A>G n.956A>G n.865A>G c.7373A>G (p.Lys2458Arg) c.3341A>G (p.Lys1114Arg) c.362A>G (p.Lys121Arg) c.461A>G (p.Lys154Arg) c.7361A>G (p.Lys2454Arg) c.130A>G (n.130A>G) c.7358A>G (p.Lys2453Arg) c.7370A>G (p.Lys2457Arg) c.7349A>G (p.Lys2450Arg) c.7004A>G (p.Lys2335Arg) c.3350A>G (p.Lys1117Arg) c.7244A>G (p.Lys2415Arg) c.7235A>G (p.Lys2412Arg) c.7250A>G (p.Lys2417Arg) c.1547A>G (p.Lys516Arg) | |
X | g.31774129T>G | CA412659072 | DMD | c.2219A>C (p.Lys740Thr) c.-8A>C (n.-8A>C) n.1034A>C n.956A>C n.865A>C c.7373A>C (p.Lys2458Thr) c.3341A>C (p.Lys1114Thr) c.362A>C (p.Lys121Thr) c.461A>C (p.Lys154Thr) c.7361A>C (p.Lys2454Thr) c.130A>C (n.130A>C) c.7358A>C (p.Lys2453Thr) c.7370A>C (p.Lys2457Thr) c.7349A>C (p.Lys2450Thr) c.7004A>C (p.Lys2335Thr) c.3350A>C (p.Lys1117Thr) c.7244A>C (p.Lys2415Thr) c.7235A>C (p.Lys2412Thr) c.7250A>C (p.Lys2417Thr) c.1547A>C (p.Lys516Thr) | |
X | g.31774130T>A | CA412659075 | DMD | c.2218A>T (p.Lys740Ter) c.-9A>T (n.-9A>T) n.1033A>T n.955A>T n.864A>T c.7372A>T (p.Lys2458Ter) c.3340A>T (p.Lys1114Ter) c.361A>T (p.Lys121Ter) c.460A>T (p.Lys154Ter) c.7360A>T (p.Lys2454Ter) c.129A>T (n.129A>T) c.7357A>T (p.Lys2453Ter) c.7369A>T (p.Lys2457Ter) c.7348A>T (p.Lys2450Ter) c.7003A>T (p.Lys2335Ter) c.3349A>T (p.Lys1117Ter) c.7243A>T (p.Lys2415Ter) c.7234A>T (p.Lys2412Ter) c.7249A>T (p.Lys2417Ter) c.1546A>T (p.Lys516Ter) | |
X | g.31774130T>C | CA412659074 | DMD | c.2218A>G (p.Lys740Glu) c.-9A>G (n.-9A>G) n.1033A>G n.955A>G n.864A>G c.7372A>G (p.Lys2458Glu) c.3340A>G (p.Lys1114Glu) c.361A>G (p.Lys121Glu) c.460A>G (p.Lys154Glu) c.7360A>G (p.Lys2454Glu) c.129A>G (n.129A>G) c.7357A>G (p.Lys2453Glu) c.7369A>G (p.Lys2457Glu) c.7348A>G (p.Lys2450Glu) c.7003A>G (p.Lys2335Glu) c.3349A>G (p.Lys1117Glu) c.7243A>G (p.Lys2415Glu) c.7234A>G (p.Lys2412Glu) c.7249A>G (p.Lys2417Glu) c.1546A>G (p.Lys516Glu) | |
X | g.31774130T>G | CA412659073 | DMD | c.2218A>C (p.Lys740Gln) c.-9A>C (n.-9A>C) n.1033A>C n.955A>C n.864A>C c.7372A>C (p.Lys2458Gln) c.3340A>C (p.Lys1114Gln) c.361A>C (p.Lys121Gln) c.460A>C (p.Lys154Gln) c.7360A>C (p.Lys2454Gln) c.129A>C (n.129A>C) c.7357A>C (p.Lys2453Gln) c.7369A>C (p.Lys2457Gln) c.7348A>C (p.Lys2450Gln) c.7003A>C (p.Lys2335Gln) c.3349A>C (p.Lys1117Gln) c.7243A>C (p.Lys2415Gln) c.7234A>C (p.Lys2412Gln) c.7249A>C (p.Lys2417Gln) c.1546A>C (p.Lys516Gln) | |
X | g.31774131G>A | CA515859393 | DMD | c.2217C>T (p.Ser739=) c.-10C>T (n.-10C>T) n.1032C>T n.954C>T n.863C>T c.7371C>T (p.Ser2457=) c.3339C>T (p.Ser1113=) c.360C>T (p.Ser120=) c.459C>T (p.Ser153=) c.7359C>T (p.Ser2453=) c.128C>T (n.128C>T) c.7356C>T (p.Ser2452=) c.7368C>T (p.Ser2456=) c.7347C>T (p.Ser2449=) c.7002C>T (p.Ser2334=) c.3348C>T (p.Ser1116=) c.7242C>T (p.Ser2414=) c.7233C>T (p.Ser2411=) c.7248C>T (p.Ser2416=) c.1545C>T (p.Ser515=) | |
X | g.31774131G>C | CA515859394 | DMD | c.2217C>G (p.Ser739=) c.-10C>G (n.-10C>G) n.1032C>G n.954C>G n.863C>G c.7371C>G (p.Ser2457=) c.3339C>G (p.Ser1113=) c.360C>G (p.Ser120=) c.459C>G (p.Ser153=) c.7359C>G (p.Ser2453=) c.128C>G (n.128C>G) c.7356C>G (p.Ser2452=) c.7368C>G (p.Ser2456=) c.7347C>G (p.Ser2449=) c.7002C>G (p.Ser2334=) c.3348C>G (p.Ser1116=) c.7242C>G (p.Ser2414=) c.7233C>G (p.Ser2411=) c.7248C>G (p.Ser2416=) c.1545C>G (p.Ser515=) | ClinVar |
X | g.31774131G>T | CA515859395 | DMD | c.2217C>A (p.Ser739=) c.-10C>A (n.-10C>A) n.1032C>A n.954C>A n.863C>A c.7371C>A (p.Ser2457=) c.3339C>A (p.Ser1113=) c.360C>A (p.Ser120=) c.459C>A (p.Ser153=) c.7359C>A (p.Ser2453=) c.128C>A (n.128C>A) c.7356C>A (p.Ser2452=) c.7368C>A (p.Ser2456=) c.7347C>A (p.Ser2449=) c.7002C>A (p.Ser2334=) c.3348C>A (p.Ser1116=) c.7242C>A (p.Ser2414=) c.7233C>A (p.Ser2411=) c.7248C>A (p.Ser2416=) c.1545C>A (p.Ser515=) | |
X | g.31774132G>A | CA10378283 | DMD | c.2216C>T (p.Ser739Phe) c.-11C>T (n.-11C>T) n.1031C>T n.953C>T n.862C>T c.7370C>T (p.Ser2457Phe) c.3338C>T (p.Ser1113Phe) c.359C>T (p.Ser120Phe) c.458C>T (p.Ser153Phe) c.7358C>T (p.Ser2453Phe) c.127C>T (n.127C>T) c.7355C>T (p.Ser2452Phe) c.7367C>T (p.Ser2456Phe) c.7346C>T (p.Ser2449Phe) c.7001C>T (p.Ser2334Phe) c.3347C>T (p.Ser1116Phe) c.7241C>T (p.Ser2414Phe) c.7232C>T (p.Ser2411Phe) c.7247C>T (p.Ser2416Phe) c.1544C>T (p.Ser515Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31774132G>C | CA412659076 | DMD | c.2216C>G (p.Ser739Cys) c.-11C>G (n.-11C>G) n.1031C>G n.953C>G n.862C>G c.7370C>G (p.Ser2457Cys) c.3338C>G (p.Ser1113Cys) c.359C>G (p.Ser120Cys) c.458C>G (p.Ser153Cys) c.7358C>G (p.Ser2453Cys) c.127C>G (n.127C>G) c.7355C>G (p.Ser2452Cys) c.7367C>G (p.Ser2456Cys) c.7346C>G (p.Ser2449Cys) c.7001C>G (p.Ser2334Cys) c.3347C>G (p.Ser1116Cys) c.7241C>G (p.Ser2414Cys) c.7232C>G (p.Ser2411Cys) c.7247C>G (p.Ser2416Cys) c.1544C>G (p.Ser515Cys) | |
X | g.31774132G= | CA2422548662 | DMD | c.2216C= (p.Ser739=) c.-11C= (n.-11C=) n.1031C= n.953C= n.862C= c.7370C= (p.Ser2457=) c.3338C= (p.Ser1113=) c.359C= (p.Ser120=) c.458C= (p.Ser153=) c.7358C= (p.Ser2453=) c.127C= (n.127C=) c.7355C= (p.Ser2452=) c.7367C= (p.Ser2456=) c.7346C= (p.Ser2449=) c.7001C= (p.Ser2334=) c.3347C= (p.Ser1116=) c.7241C= (p.Ser2414=) c.7232C= (p.Ser2411=) c.7247C= (p.Ser2416=) c.1544C= (p.Ser515=) | |
X | g.31774132G>T | CA412659077 | DMD | c.2216C>A (p.Ser739Tyr) c.-11C>A (n.-11C>A) n.1031C>A n.953C>A n.862C>A c.7370C>A (p.Ser2457Tyr) c.3338C>A (p.Ser1113Tyr) c.359C>A (p.Ser120Tyr) c.458C>A (p.Ser153Tyr) c.7358C>A (p.Ser2453Tyr) c.127C>A (n.127C>A) c.7355C>A (p.Ser2452Tyr) c.7367C>A (p.Ser2456Tyr) c.7346C>A (p.Ser2449Tyr) c.7001C>A (p.Ser2334Tyr) c.3347C>A (p.Ser1116Tyr) c.7241C>A (p.Ser2414Tyr) c.7232C>A (p.Ser2411Tyr) c.7247C>A (p.Ser2416Tyr) c.1544C>A (p.Ser515Tyr) |