| 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.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=) |