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.31774142T>A | CA412659097 | DMD | c.2206A>T (p.Thr736Ser) c.-21A>T (n.-21A>T) n.1021A>T n.943A>T n.852A>T c.7360A>T (p.Thr2454Ser) c.3328A>T (p.Thr1110Ser) c.349A>T (p.Thr117Ser) c.448A>T (p.Thr150Ser) c.7348A>T (p.Thr2450Ser) c.117A>T (n.117A>T) c.7345A>T (p.Thr2449Ser) c.7357A>T (p.Thr2453Ser) c.7336A>T (p.Thr2446Ser) c.6991A>T (p.Thr2331Ser) c.3337A>T (p.Thr1113Ser) c.7231A>T (p.Thr2411Ser) c.7222A>T (p.Thr2408Ser) c.7237A>T (p.Thr2413Ser) c.1534A>T (p.Thr512Ser) | |
X | g.31774142T>C | CA412659098 | DMD | c.2206A>G (p.Thr736Ala) c.-21A>G (n.-21A>G) n.1021A>G n.943A>G n.852A>G c.7360A>G (p.Thr2454Ala) c.3328A>G (p.Thr1110Ala) c.349A>G (p.Thr117Ala) c.448A>G (p.Thr150Ala) c.7348A>G (p.Thr2450Ala) c.117A>G (n.117A>G) c.7345A>G (p.Thr2449Ala) c.7357A>G (p.Thr2453Ala) c.7336A>G (p.Thr2446Ala) c.6991A>G (p.Thr2331Ala) c.3337A>G (p.Thr1113Ala) c.7231A>G (p.Thr2411Ala) c.7222A>G (p.Thr2408Ala) c.7237A>G (p.Thr2413Ala) c.1534A>G (p.Thr512Ala) | |
X | g.31774142T>G | CA412659099 | DMD | c.2206A>C (p.Thr736Pro) c.-21A>C (n.-21A>C) n.1021A>C n.943A>C n.852A>C c.7360A>C (p.Thr2454Pro) c.3328A>C (p.Thr1110Pro) c.349A>C (p.Thr117Pro) c.448A>C (p.Thr150Pro) c.7348A>C (p.Thr2450Pro) c.117A>C (n.117A>C) c.7345A>C (p.Thr2449Pro) c.7357A>C (p.Thr2453Pro) c.7336A>C (p.Thr2446Pro) c.6991A>C (p.Thr2331Pro) c.3337A>C (p.Thr1113Pro) c.7231A>C (p.Thr2411Pro) c.7222A>C (p.Thr2408Pro) c.7237A>C (p.Thr2413Pro) c.1534A>C (p.Thr512Pro) | |
X | g.31774144dup | CA2695232460 | DMD | c.2206dup (p.Thr736AsnfsTer?) c.-21dup (n.-21dup) n.1021dup n.943dup n.852dup c.7360dup (p.Thr2454AsnfsTer?) c.3328dup (p.Thr1110AsnfsTer?) c.349dup (p.Thr117AsnfsTer?) c.448dup (p.Thr150AsnfsTer?) c.7348dup (p.Thr2450AsnfsTer?) c.117dup (n.117dup) c.7345dup (p.Thr2449AsnfsTer?) c.7357dup (p.Thr2453AsnfsTer?) c.7336dup (p.Thr2446AsnfsTer?) c.6991dup (p.Thr2331AsnfsTer?) c.3337dup (p.Thr1113AsnfsTer?) c.7231dup (p.Thr2411AsnfsTer?) c.7222dup (p.Thr2408AsnfsTer?) c.7237dup (p.Thr2413AsnfsTer?) c.1534dup (p.Thr512AsnfsTer?) | |
X | g.31774143T>A | CA412659100 | DMD | c.2205A>T (p.Glu735Asp) c.-22A>T (n.-22A>T) n.1020A>T n.942A>T n.851A>T c.7359A>T (p.Glu2453Asp) c.3327A>T (p.Glu1109Asp) c.348A>T (p.Glu116Asp) c.447A>T (p.Glu149Asp) c.7347A>T (p.Glu2449Asp) c.116A>T (n.116A>T) c.7344A>T (p.Glu2448Asp) c.7356A>T (p.Glu2452Asp) c.7335A>T (p.Glu2445Asp) c.6990A>T (p.Glu2330Asp) c.3336A>T (p.Glu1112Asp) c.7230A>T (p.Glu2410Asp) c.7221A>T (p.Glu2407Asp) c.7236A>T (p.Glu2412Asp) c.1533A>T (p.Glu511Asp) | |
X | g.31774143T>C | CA10378284 | DMD | c.2205A>G (p.Glu735=) c.-22A>G (n.-22A>G) n.1020A>G n.942A>G n.851A>G c.7359A>G (p.Glu2453=) c.3327A>G (p.Glu1109=) c.348A>G (p.Glu116=) c.447A>G (p.Glu149=) c.7347A>G (p.Glu2449=) c.116A>G (n.116A>G) c.7344A>G (p.Glu2448=) c.7356A>G (p.Glu2452=) c.7335A>G (p.Glu2445=) c.6990A>G (p.Glu2330=) c.3336A>G (p.Glu1112=) c.7230A>G (p.Glu2410=) c.7221A>G (p.Glu2407=) c.7236A>G (p.Glu2412=) c.1533A>G (p.Glu511=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774143T>G | CA412659101 | DMD | c.2205A>C (p.Glu735Asp) c.-22A>C (n.-22A>C) n.1020A>C n.942A>C n.851A>C c.7359A>C (p.Glu2453Asp) c.3327A>C (p.Glu1109Asp) c.348A>C (p.Glu116Asp) c.447A>C (p.Glu149Asp) c.7347A>C (p.Glu2449Asp) c.116A>C (n.116A>C) c.7344A>C (p.Glu2448Asp) c.7356A>C (p.Glu2452Asp) c.7335A>C (p.Glu2445Asp) c.6990A>C (p.Glu2330Asp) c.3336A>C (p.Glu1112Asp) c.7230A>C (p.Glu2410Asp) c.7221A>C (p.Glu2407Asp) c.7236A>C (p.Glu2412Asp) c.1533A>C (p.Glu511Asp) | |
X | g.31774143T= | CA2422548666 | DMD | c.2205A= (p.Glu735=) c.-22A= (n.-22A=) n.1020A= n.942A= n.851A= c.7359A= (p.Glu2453=) c.3327A= (p.Glu1109=) c.348A= (p.Glu116=) c.447A= (p.Glu149=) c.7347A= (p.Glu2449=) c.116A= (n.116A=) c.7344A= (p.Glu2448=) c.7356A= (p.Glu2452=) c.7335A= (p.Glu2445=) c.6990A= (p.Glu2330=) c.3336A= (p.Glu1112=) c.7230A= (p.Glu2410=) c.7221A= (p.Glu2407=) c.7236A= (p.Glu2412=) c.1533A= (p.Glu511=) | |
X | g.31774144T>A | CA412659104 | DMD | c.2204A>T (p.Glu735Val) c.-23A>T (n.-23A>T) n.1019A>T n.941A>T n.850A>T c.7358A>T (p.Glu2453Val) c.3326A>T (p.Glu1109Val) c.347A>T (p.Glu116Val) c.446A>T (p.Glu149Val) c.7346A>T (p.Glu2449Val) c.115A>T (n.115A>T) c.7343A>T (p.Glu2448Val) c.7355A>T (p.Glu2452Val) c.7334A>T (p.Glu2445Val) c.6989A>T (p.Glu2330Val) c.3335A>T (p.Glu1112Val) c.7229A>T (p.Glu2410Val) c.7220A>T (p.Glu2407Val) c.7235A>T (p.Glu2412Val) c.1532A>T (p.Glu511Val) | |
X | g.31774144T>C | CA412659102 | DMD | c.2204A>G (p.Glu735Gly) c.-23A>G (n.-23A>G) n.1019A>G n.941A>G n.850A>G c.7358A>G (p.Glu2453Gly) c.3326A>G (p.Glu1109Gly) c.347A>G (p.Glu116Gly) c.446A>G (p.Glu149Gly) c.7346A>G (p.Glu2449Gly) c.115A>G (n.115A>G) c.7343A>G (p.Glu2448Gly) c.7355A>G (p.Glu2452Gly) c.7334A>G (p.Glu2445Gly) c.6989A>G (p.Glu2330Gly) c.3335A>G (p.Glu1112Gly) c.7229A>G (p.Glu2410Gly) c.7220A>G (p.Glu2407Gly) c.7235A>G (p.Glu2412Gly) c.1532A>G (p.Glu511Gly) | |
X | g.31774144T>G | CA412659103 | DMD | c.2204A>C (p.Glu735Ala) c.-23A>C (n.-23A>C) n.1019A>C n.941A>C n.850A>C c.7358A>C (p.Glu2453Ala) c.3326A>C (p.Glu1109Ala) c.347A>C (p.Glu116Ala) c.446A>C (p.Glu149Ala) c.7346A>C (p.Glu2449Ala) c.115A>C (n.115A>C) c.7343A>C (p.Glu2448Ala) c.7355A>C (p.Glu2452Ala) c.7334A>C (p.Glu2445Ala) c.6989A>C (p.Glu2330Ala) c.3335A>C (p.Glu1112Ala) c.7229A>C (p.Glu2410Ala) c.7220A>C (p.Glu2407Ala) c.7235A>C (p.Glu2412Ala) c.1532A>C (p.Glu511Ala) | |
X | g.31774145C>A | CA412659105 | DMD | c.2203G>T (p.Glu735Ter) c.-24G>T (n.-24G>T) n.1018G>T n.940G>T n.849G>T c.7357G>T (p.Glu2453Ter) c.3325G>T (p.Glu1109Ter) c.346G>T (p.Glu116Ter) c.445G>T (p.Glu149Ter) c.7345G>T (p.Glu2449Ter) c.114G>T (n.114G>T) c.7342G>T (p.Glu2448Ter) c.7354G>T (p.Glu2452Ter) c.7333G>T (p.Glu2445Ter) c.6988G>T (p.Glu2330Ter) c.3334G>T (p.Glu1112Ter) c.7228G>T (p.Glu2410Ter) c.7219G>T (p.Glu2407Ter) c.7234G>T (p.Glu2412Ter) c.1531G>T (p.Glu511Ter) | |
X | g.31774145C>G | CA412659106 | DMD | c.2203G>C (p.Glu735Gln) c.-24G>C (n.-24G>C) n.1018G>C n.940G>C n.849G>C c.7357G>C (p.Glu2453Gln) c.3325G>C (p.Glu1109Gln) c.346G>C (p.Glu116Gln) c.445G>C (p.Glu149Gln) c.7345G>C (p.Glu2449Gln) c.114G>C (n.114G>C) c.7342G>C (p.Glu2448Gln) c.7354G>C (p.Glu2452Gln) c.7333G>C (p.Glu2445Gln) c.6988G>C (p.Glu2330Gln) c.3334G>C (p.Glu1112Gln) c.7228G>C (p.Glu2410Gln) c.7219G>C (p.Glu2407Gln) c.7234G>C (p.Glu2412Gln) c.1531G>C (p.Glu511Gln) | COSMIC COSMIC COSMIC COSMIC |
X | g.31774145C>T | CA412659107 | DMD | c.2203G>A (p.Glu735Lys) c.-24G>A (n.-24G>A) n.1018G>A n.940G>A n.849G>A c.7357G>A (p.Glu2453Lys) c.3325G>A (p.Glu1109Lys) c.346G>A (p.Glu116Lys) c.445G>A (p.Glu149Lys) c.7345G>A (p.Glu2449Lys) c.114G>A (n.114G>A) c.7342G>A (p.Glu2448Lys) c.7354G>A (p.Glu2452Lys) c.7333G>A (p.Glu2445Lys) c.6988G>A (p.Glu2330Lys) c.3334G>A (p.Glu1112Lys) c.7228G>A (p.Glu2410Lys) c.7219G>A (p.Glu2407Lys) c.7234G>A (p.Glu2412Lys) c.1531G>A (p.Glu511Lys) | |
X | g.31774146C>A | CA412659108 | DMD | c.2202G>T (p.Lys734Asn) c.-25G>T (n.-25G>T) n.1017G>T n.939G>T n.848G>T c.7356G>T (p.Lys2452Asn) c.3324G>T (p.Lys1108Asn) c.345G>T (p.Lys115Asn) c.444G>T (p.Lys148Asn) c.7344G>T (p.Lys2448Asn) c.113G>T (n.113G>T) c.7341G>T (p.Lys2447Asn) c.7353G>T (p.Lys2451Asn) c.7332G>T (p.Lys2444Asn) c.6987G>T (p.Lys2329Asn) c.3333G>T (p.Lys1111Asn) c.7227G>T (p.Lys2409Asn) c.7218G>T (p.Lys2406Asn) c.7233G>T (p.Lys2411Asn) c.1530G>T (p.Lys510Asn) | COSMIC COSMIC COSMIC COSMIC |
X | g.31774146C>G | CA412659109 | DMD | c.2202G>C (p.Lys734Asn) c.-25G>C (n.-25G>C) n.1017G>C n.939G>C n.848G>C c.7356G>C (p.Lys2452Asn) c.3324G>C (p.Lys1108Asn) c.345G>C (p.Lys115Asn) c.444G>C (p.Lys148Asn) c.7344G>C (p.Lys2448Asn) c.113G>C (n.113G>C) c.7341G>C (p.Lys2447Asn) c.7353G>C (p.Lys2451Asn) c.7332G>C (p.Lys2444Asn) c.6987G>C (p.Lys2329Asn) c.3333G>C (p.Lys1111Asn) c.7227G>C (p.Lys2409Asn) c.7218G>C (p.Lys2406Asn) c.7233G>C (p.Lys2411Asn) c.1530G>C (p.Lys510Asn) | |
X | g.31774146C>T | CA515859404 | DMD | c.2202G>A (p.Lys734=) c.-25G>A (n.-25G>A) n.1017G>A n.939G>A n.848G>A c.7356G>A (p.Lys2452=) c.3324G>A (p.Lys1108=) c.345G>A (p.Lys115=) c.444G>A (p.Lys148=) c.7344G>A (p.Lys2448=) c.113G>A (n.113G>A) c.7341G>A (p.Lys2447=) c.7353G>A (p.Lys2451=) c.7332G>A (p.Lys2444=) c.6987G>A (p.Lys2329=) c.3333G>A (p.Lys1111=) c.7227G>A (p.Lys2409=) c.7218G>A (p.Lys2406=) c.7233G>A (p.Lys2411=) c.1530G>A (p.Lys510=) | gnomAD v4 |
X | g.31774147T>A | CA412659110 | DMD | c.2201A>T (p.Lys734Met) c.-26A>T (n.-26A>T) n.1016A>T n.938A>T n.847A>T c.7355A>T (p.Lys2452Met) c.3323A>T (p.Lys1108Met) c.344A>T (p.Lys115Met) c.443A>T (p.Lys148Met) c.7343A>T (p.Lys2448Met) c.112A>T (n.112A>T) c.7340A>T (p.Lys2447Met) c.7352A>T (p.Lys2451Met) c.7331A>T (p.Lys2444Met) c.6986A>T (p.Lys2329Met) c.3332A>T (p.Lys1111Met) c.7226A>T (p.Lys2409Met) c.7217A>T (p.Lys2406Met) c.7232A>T (p.Lys2411Met) c.1529A>T (p.Lys510Met) | |
X | g.31774147T>C | CA412659111 | DMD | c.2201A>G (p.Lys734Arg) c.-26A>G (n.-26A>G) n.1016A>G n.938A>G n.847A>G c.7355A>G (p.Lys2452Arg) c.3323A>G (p.Lys1108Arg) c.344A>G (p.Lys115Arg) c.443A>G (p.Lys148Arg) c.7343A>G (p.Lys2448Arg) c.112A>G (n.112A>G) c.7340A>G (p.Lys2447Arg) c.7352A>G (p.Lys2451Arg) c.7331A>G (p.Lys2444Arg) c.6986A>G (p.Lys2329Arg) c.3332A>G (p.Lys1111Arg) c.7226A>G (p.Lys2409Arg) c.7217A>G (p.Lys2406Arg) c.7232A>G (p.Lys2411Arg) c.1529A>G (p.Lys510Arg) | gnomAD v4 |
X | g.31774147T>G | CA412659112 | DMD | c.2201A>C (p.Lys734Thr) c.-26A>C (n.-26A>C) n.1016A>C n.938A>C n.847A>C c.7355A>C (p.Lys2452Thr) c.3323A>C (p.Lys1108Thr) c.344A>C (p.Lys115Thr) c.443A>C (p.Lys148Thr) c.7343A>C (p.Lys2448Thr) c.112A>C (n.112A>C) c.7340A>C (p.Lys2447Thr) c.7352A>C (p.Lys2451Thr) c.7331A>C (p.Lys2444Thr) c.6986A>C (p.Lys2329Thr) c.3332A>C (p.Lys1111Thr) c.7226A>C (p.Lys2409Thr) c.7217A>C (p.Lys2406Thr) c.7232A>C (p.Lys2411Thr) c.1529A>C (p.Lys510Thr) | |
X | g.31774148T>A | CA412659113 | DMD | c.2200A>T (p.Lys734Ter) c.-27A>T (n.-27A>T) n.1015A>T n.937A>T n.846A>T c.7354A>T (p.Lys2452Ter) c.3322A>T (p.Lys1108Ter) c.343A>T (p.Lys115Ter) c.442A>T (p.Lys148Ter) c.7342A>T (p.Lys2448Ter) c.111A>T (n.111A>T) c.7339A>T (p.Lys2447Ter) c.7351A>T (p.Lys2451Ter) c.7330A>T (p.Lys2444Ter) c.6985A>T (p.Lys2329Ter) c.3331A>T (p.Lys1111Ter) c.7225A>T (p.Lys2409Ter) c.7216A>T (p.Lys2406Ter) c.7231A>T (p.Lys2411Ter) c.1528A>T (p.Lys510Ter) | |
X | g.31774148T>C | CA10605886 | DMD | c.2200A>G (p.Lys734Glu) c.-27A>G (n.-27A>G) n.1015A>G n.937A>G n.846A>G c.7354A>G (p.Lys2452Glu) c.3322A>G (p.Lys1108Glu) c.343A>G (p.Lys115Glu) c.442A>G (p.Lys148Glu) c.7342A>G (p.Lys2448Glu) c.111A>G (n.111A>G) c.7339A>G (p.Lys2447Glu) c.7351A>G (p.Lys2451Glu) c.7330A>G (p.Lys2444Glu) c.6985A>G (p.Lys2329Glu) c.3331A>G (p.Lys1111Glu) c.7225A>G (p.Lys2409Glu) c.7216A>G (p.Lys2406Glu) c.7231A>G (p.Lys2411Glu) c.1528A>G (p.Lys510Glu) | ClinVar dbSNP gnomAD v4 |
X | g.31774148T>G | CA412659114 | DMD | c.2200A>C (p.Lys734Gln) c.-27A>C (n.-27A>C) n.1015A>C n.937A>C n.846A>C c.7354A>C (p.Lys2452Gln) c.3322A>C (p.Lys1108Gln) c.343A>C (p.Lys115Gln) c.442A>C (p.Lys148Gln) c.7342A>C (p.Lys2448Gln) c.111A>C (n.111A>C) c.7339A>C (p.Lys2447Gln) c.7351A>C (p.Lys2451Gln) c.7330A>C (p.Lys2444Gln) c.6985A>C (p.Lys2329Gln) c.3331A>C (p.Lys1111Gln) c.7225A>C (p.Lys2409Gln) c.7216A>C (p.Lys2406Gln) c.7231A>C (p.Lys2411Gln) c.1528A>C (p.Lys510Gln) | |
X | g.31774148T= | CA2422548667 | DMD | c.2200A= (p.Lys734=) c.-27A= (n.-27A=) n.1015A= n.937A= n.846A= c.7354A= (p.Lys2452=) c.3322A= (p.Lys1108=) c.343A= (p.Lys115=) c.442A= (p.Lys148=) c.7342A= (p.Lys2448=) c.111A= (n.111A=) c.7339A= (p.Lys2447=) c.7351A= (p.Lys2451=) c.7330A= (p.Lys2444=) c.6985A= (p.Lys2329=) c.3331A= (p.Lys1111=) c.7225A= (p.Lys2409=) c.7216A= (p.Lys2406=) c.7231A= (p.Lys2411=) c.1528A= (p.Lys510=) | |
X | g.31774149A>C | CA515859405 | DMD | c.2199T>G (p.Thr733=) c.-28T>G (n.-28T>G) n.1014T>G n.936T>G n.845T>G c.7353T>G (p.Thr2451=) c.3321T>G (p.Thr1107=) c.342T>G (p.Thr114=) c.441T>G (p.Thr147=) c.7341T>G (p.Thr2447=) c.110T>G (n.110T>G) c.7338T>G (p.Thr2446=) c.7350T>G (p.Thr2450=) c.7329T>G (p.Thr2443=) c.6984T>G (p.Thr2328=) c.3330T>G (p.Thr1110=) c.7224T>G (p.Thr2408=) c.7215T>G (p.Thr2405=) c.7230T>G (p.Thr2410=) c.1527T>G (p.Thr509=) | |
X | g.31774149A>G | CA515859406 | DMD | c.2199T>C (p.Thr733=) c.-28T>C (n.-28T>C) n.1014T>C n.936T>C n.845T>C c.7353T>C (p.Thr2451=) c.3321T>C (p.Thr1107=) c.342T>C (p.Thr114=) c.441T>C (p.Thr147=) c.7341T>C (p.Thr2447=) c.110T>C (n.110T>C) c.7338T>C (p.Thr2446=) c.7350T>C (p.Thr2450=) c.7329T>C (p.Thr2443=) c.6984T>C (p.Thr2328=) c.3330T>C (p.Thr1110=) c.7224T>C (p.Thr2408=) c.7215T>C (p.Thr2405=) c.7230T>C (p.Thr2410=) c.1527T>C (p.Thr509=) | ClinVar dbSNP |
X | g.31774149A>T | CA515859407 | DMD | c.2199T>A (p.Thr733=) c.-28T>A (n.-28T>A) n.1014T>A n.936T>A n.845T>A c.7353T>A (p.Thr2451=) c.3321T>A (p.Thr1107=) c.342T>A (p.Thr114=) c.441T>A (p.Thr147=) c.7341T>A (p.Thr2447=) c.110T>A (n.110T>A) c.7338T>A (p.Thr2446=) c.7350T>A (p.Thr2450=) c.7329T>A (p.Thr2443=) c.6984T>A (p.Thr2328=) c.3330T>A (p.Thr1110=) c.7224T>A (p.Thr2408=) c.7215T>A (p.Thr2405=) c.7230T>A (p.Thr2410=) c.1527T>A (p.Thr509=) | |
X | g.31774149dup | CA2695232461 | DMD | c.2199dup (p.Lys734Ter) c.-28dup (n.-28dup) n.1014dup n.936dup n.845dup c.7353dup (p.Lys2452Ter) c.3321dup (p.Lys1108Ter) c.342dup (p.Lys115Ter) c.441dup (p.Lys148Ter) c.7341dup (p.Lys2448Ter) c.110dup (n.110dup) c.7338dup (p.Lys2447Ter) c.7350dup (p.Lys2451Ter) c.7329dup (p.Lys2444Ter) c.6984dup (p.Lys2329Ter) c.3330dup (p.Lys1111Ter) c.7224dup (p.Lys2409Ter) c.7215dup (p.Lys2406Ter) c.7230dup (p.Lys2411Ter) c.1527dup (p.Lys510Ter) | |
X | g.31774150G>A | CA412659116 | DMD | c.2198C>T (p.Thr733Ile) c.-29C>T (n.-29C>T) n.1013C>T n.935C>T n.844C>T c.7352C>T (p.Thr2451Ile) c.3320C>T (p.Thr1107Ile) c.341C>T (p.Thr114Ile) c.440C>T (p.Thr147Ile) c.7340C>T (p.Thr2447Ile) c.109C>T (n.109C>T) c.7337C>T (p.Thr2446Ile) c.7349C>T (p.Thr2450Ile) c.7328C>T (p.Thr2443Ile) c.6983C>T (p.Thr2328Ile) c.3329C>T (p.Thr1110Ile) c.7223C>T (p.Thr2408Ile) c.7214C>T (p.Thr2405Ile) c.7229C>T (p.Thr2410Ile) c.1526C>T (p.Thr509Ile) | |
X | g.31774150G>C | CA412659117 | DMD | c.2198C>G (p.Thr733Ser) c.-29C>G (n.-29C>G) n.1013C>G n.935C>G n.844C>G c.7352C>G (p.Thr2451Ser) c.3320C>G (p.Thr1107Ser) c.341C>G (p.Thr114Ser) c.440C>G (p.Thr147Ser) c.7340C>G (p.Thr2447Ser) c.109C>G (n.109C>G) c.7337C>G (p.Thr2446Ser) c.7349C>G (p.Thr2450Ser) c.7328C>G (p.Thr2443Ser) c.6983C>G (p.Thr2328Ser) c.3329C>G (p.Thr1110Ser) c.7223C>G (p.Thr2408Ser) c.7214C>G (p.Thr2405Ser) c.7229C>G (p.Thr2410Ser) c.1526C>G (p.Thr509Ser) | |
X | g.31774150G>T | CA412659115 | DMD | c.2198C>A (p.Thr733Asn) c.-29C>A (n.-29C>A) n.1013C>A n.935C>A n.844C>A c.7352C>A (p.Thr2451Asn) c.3320C>A (p.Thr1107Asn) c.341C>A (p.Thr114Asn) c.440C>A (p.Thr147Asn) c.7340C>A (p.Thr2447Asn) c.109C>A (n.109C>A) c.7337C>A (p.Thr2446Asn) c.7349C>A (p.Thr2450Asn) c.7328C>A (p.Thr2443Asn) c.6983C>A (p.Thr2328Asn) c.3329C>A (p.Thr1110Asn) c.7223C>A (p.Thr2408Asn) c.7214C>A (p.Thr2405Asn) c.7229C>A (p.Thr2410Asn) c.1526C>A (p.Thr509Asn) | |
X | g.31774151T>A | CA412659119 | DMD | c.2197A>T (p.Thr733Ser) c.-30A>T (n.-30A>T) n.1012A>T n.934A>T n.843A>T c.7351A>T (p.Thr2451Ser) c.3319A>T (p.Thr1107Ser) c.340A>T (p.Thr114Ser) c.439A>T (p.Thr147Ser) c.7339A>T (p.Thr2447Ser) c.108A>T (n.108A>T) c.7336A>T (p.Thr2446Ser) c.7348A>T (p.Thr2450Ser) c.7327A>T (p.Thr2443Ser) c.6982A>T (p.Thr2328Ser) c.3328A>T (p.Thr1110Ser) c.7222A>T (p.Thr2408Ser) c.7213A>T (p.Thr2405Ser) c.7228A>T (p.Thr2410Ser) c.1525A>T (p.Thr509Ser) | |
X | g.31774151T>C | CA412659118 | DMD | c.2197A>G (p.Thr733Ala) c.-30A>G (n.-30A>G) n.1012A>G n.934A>G n.843A>G c.7351A>G (p.Thr2451Ala) c.3319A>G (p.Thr1107Ala) c.340A>G (p.Thr114Ala) c.439A>G (p.Thr147Ala) c.7339A>G (p.Thr2447Ala) c.108A>G (n.108A>G) c.7336A>G (p.Thr2446Ala) c.7348A>G (p.Thr2450Ala) c.7327A>G (p.Thr2443Ala) c.6982A>G (p.Thr2328Ala) c.3328A>G (p.Thr1110Ala) c.7222A>G (p.Thr2408Ala) c.7213A>G (p.Thr2405Ala) c.7228A>G (p.Thr2410Ala) c.1525A>G (p.Thr509Ala) | ClinVar |
X | g.31774151T>G | CA412659120 | DMD | c.2197A>C (p.Thr733Pro) c.-30A>C (n.-30A>C) n.1012A>C n.934A>C n.843A>C c.7351A>C (p.Thr2451Pro) c.3319A>C (p.Thr1107Pro) c.340A>C (p.Thr114Pro) c.439A>C (p.Thr147Pro) c.7339A>C (p.Thr2447Pro) c.108A>C (n.108A>C) c.7336A>C (p.Thr2446Pro) c.7348A>C (p.Thr2450Pro) c.7327A>C (p.Thr2443Pro) c.6982A>C (p.Thr2328Pro) c.3328A>C (p.Thr1110Pro) c.7222A>C (p.Thr2408Pro) c.7213A>C (p.Thr2405Pro) c.7228A>C (p.Thr2410Pro) c.1525A>C (p.Thr509Pro) | |
X | g.31774152A>C | CA515859408 | DMD | c.2196T>G (p.Val732=) c.-31T>G (n.-31T>G) n.1011T>G n.933T>G n.842T>G c.7350T>G (p.Val2450=) c.3318T>G (p.Val1106=) c.339T>G (p.Val113=) c.438T>G (p.Val146=) c.7338T>G (p.Val2446=) c.107T>G (n.107T>G) c.7335T>G (p.Val2445=) c.7347T>G (p.Val2449=) c.7326T>G (p.Val2442=) c.6981T>G (p.Val2327=) c.3327T>G (p.Val1109=) c.7221T>G (p.Val2407=) c.7212T>G (p.Val2404=) c.7227T>G (p.Val2409=) c.1524T>G (p.Val508=) | |
X | g.31774152A>G | CA515859409 | DMD | c.2196T>C (p.Val732=) c.-31T>C (n.-31T>C) n.1011T>C n.933T>C n.842T>C c.7350T>C (p.Val2450=) c.3318T>C (p.Val1106=) c.339T>C (p.Val113=) c.438T>C (p.Val146=) c.7338T>C (p.Val2446=) c.107T>C (n.107T>C) c.7335T>C (p.Val2445=) c.7347T>C (p.Val2449=) c.7326T>C (p.Val2442=) c.6981T>C (p.Val2327=) c.3327T>C (p.Val1109=) c.7221T>C (p.Val2407=) c.7212T>C (p.Val2404=) c.7227T>C (p.Val2409=) c.1524T>C (p.Val508=) | |
X | g.31774152A>T | CA515859410 | DMD | c.2196T>A (p.Val732=) c.-31T>A (n.-31T>A) n.1011T>A n.933T>A n.842T>A c.7350T>A (p.Val2450=) c.3318T>A (p.Val1106=) c.339T>A (p.Val113=) c.438T>A (p.Val146=) c.7338T>A (p.Val2446=) c.107T>A (n.107T>A) c.7335T>A (p.Val2445=) c.7347T>A (p.Val2449=) c.7326T>A (p.Val2442=) c.6981T>A (p.Val2327=) c.3327T>A (p.Val1109=) c.7221T>A (p.Val2407=) c.7212T>A (p.Val2404=) c.7227T>A (p.Val2409=) c.1524T>A (p.Val508=) | |
X | g.31774153A>C | CA412659121 | DMD | c.2195T>G (p.Val732Gly) c.-32T>G (n.-32T>G) n.1010T>G n.932T>G n.841T>G c.7349T>G (p.Val2450Gly) c.3317T>G (p.Val1106Gly) c.338T>G (p.Val113Gly) c.437T>G (p.Val146Gly) c.7337T>G (p.Val2446Gly) c.106T>G (n.106T>G) c.7334T>G (p.Val2445Gly) c.7346T>G (p.Val2449Gly) c.7325T>G (p.Val2442Gly) c.6980T>G (p.Val2327Gly) c.3326T>G (p.Val1109Gly) c.7220T>G (p.Val2407Gly) c.7211T>G (p.Val2404Gly) c.7226T>G (p.Val2409Gly) c.1523T>G (p.Val508Gly) | |
X | g.31774153A>G | CA412659123 | DMD | c.2195T>C (p.Val732Ala) c.-32T>C (n.-32T>C) n.1010T>C n.932T>C n.841T>C c.7349T>C (p.Val2450Ala) c.3317T>C (p.Val1106Ala) c.338T>C (p.Val113Ala) c.437T>C (p.Val146Ala) c.7337T>C (p.Val2446Ala) c.106T>C (n.106T>C) c.7334T>C (p.Val2445Ala) c.7346T>C (p.Val2449Ala) c.7325T>C (p.Val2442Ala) c.6980T>C (p.Val2327Ala) c.3326T>C (p.Val1109Ala) c.7220T>C (p.Val2407Ala) c.7211T>C (p.Val2404Ala) c.7226T>C (p.Val2409Ala) c.1523T>C (p.Val508Ala) | |
X | g.31774153A>T | CA412659122 | DMD | c.2195T>A (p.Val732Asp) c.-32T>A (n.-32T>A) n.1010T>A n.932T>A n.841T>A c.7349T>A (p.Val2450Asp) c.3317T>A (p.Val1106Asp) c.338T>A (p.Val113Asp) c.437T>A (p.Val146Asp) c.7337T>A (p.Val2446Asp) c.106T>A (n.106T>A) c.7334T>A (p.Val2445Asp) c.7346T>A (p.Val2449Asp) c.7325T>A (p.Val2442Asp) c.6980T>A (p.Val2327Asp) c.3326T>A (p.Val1109Asp) c.7220T>A (p.Val2407Asp) c.7211T>A (p.Val2404Asp) c.7226T>A (p.Val2409Asp) c.1523T>A (p.Val508Asp) | |
X | g.31774154C>A | CA412659124 | DMD | c.2194G>T (p.Val732Phe) c.-33G>T (n.-33G>T) n.1009G>T n.931G>T n.840G>T c.7348G>T (p.Val2450Phe) c.3316G>T (p.Val1106Phe) c.337G>T (p.Val113Phe) c.436G>T (p.Val146Phe) c.7336G>T (p.Val2446Phe) c.105G>T (n.105G>T) c.7333G>T (p.Val2445Phe) c.7345G>T (p.Val2449Phe) c.7324G>T (p.Val2442Phe) c.6979G>T (p.Val2327Phe) c.3325G>T (p.Val1109Phe) c.7219G>T (p.Val2407Phe) c.7210G>T (p.Val2404Phe) c.7225G>T (p.Val2409Phe) c.1522G>T (p.Val508Phe) | |
X | g.31774154C= | CA2422548668 | DMD | c.2194G= (p.Val732=) c.-33G= (n.-33G=) n.1009G= n.931G= n.840G= c.7348G= (p.Val2450=) c.3316G= (p.Val1106=) c.337G= (p.Val113=) c.436G= (p.Val146=) c.7336G= (p.Val2446=) c.105G= (n.105G=) c.7333G= (p.Val2445=) c.7345G= (p.Val2449=) c.7324G= (p.Val2442=) c.6979G= (p.Val2327=) c.3325G= (p.Val1109=) c.7219G= (p.Val2407=) c.7210G= (p.Val2404=) c.7225G= (p.Val2409=) c.1522G= (p.Val508=) | |
X | g.31774154C>G | CA412659125 | DMD | c.2194G>C (p.Val732Leu) c.-33G>C (n.-33G>C) n.1009G>C n.931G>C n.840G>C c.7348G>C (p.Val2450Leu) c.3316G>C (p.Val1106Leu) c.337G>C (p.Val113Leu) c.436G>C (p.Val146Leu) c.7336G>C (p.Val2446Leu) c.105G>C (n.105G>C) c.7333G>C (p.Val2445Leu) c.7345G>C (p.Val2449Leu) c.7324G>C (p.Val2442Leu) c.6979G>C (p.Val2327Leu) c.3325G>C (p.Val1109Leu) c.7219G>C (p.Val2407Leu) c.7210G>C (p.Val2404Leu) c.7225G>C (p.Val2409Leu) c.1522G>C (p.Val508Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.31774154C>T | CA412659126 | DMD | c.2194G>A (p.Val732Ile) c.-33G>A (n.-33G>A) n.1009G>A n.931G>A n.840G>A c.7348G>A (p.Val2450Ile) c.3316G>A (p.Val1106Ile) c.337G>A (p.Val113Ile) c.436G>A (p.Val146Ile) c.7336G>A (p.Val2446Ile) c.105G>A (n.105G>A) c.7333G>A (p.Val2445Ile) c.7345G>A (p.Val2449Ile) c.7324G>A (p.Val2442Ile) c.6979G>A (p.Val2327Ile) c.3325G>A (p.Val1109Ile) c.7219G>A (p.Val2407Ile) c.7210G>A (p.Val2404Ile) c.7225G>A (p.Val2409Ile) c.1522G>A (p.Val508Ile) | |
X | g.31774155dup | CA2695232464 | DMD | c.2194dup (p.Val732GlyfsTer3) c.-33dup (n.-33dup) n.1009dup n.931dup n.840dup c.7348dup (p.Val2450GlyfsTer3) c.3316dup (p.Val1106GlyfsTer3) c.337dup (p.Val113GlyfsTer3) c.436dup (p.Val146GlyfsTer3) c.7336dup (p.Val2446GlyfsTer3) c.105dup (n.105dup) c.7333dup (p.Val2445GlyfsTer3) c.7345dup (p.Val2449GlyfsTer3) c.7324dup (p.Val2442GlyfsTer3) c.6979dup (p.Val2327GlyfsTer3) c.3325dup (p.Val1109GlyfsTer3) c.7219dup (p.Val2407GlyfsTer3) c.7210dup (p.Val2404GlyfsTer3) c.7225dup (p.Val2409GlyfsTer3) c.1522dup (p.Val508GlyfsTer3) | |
X | g.31774155del | CA2695232463 | DMD | c.2194del (p.Val732LeufsTer10) c.-33del (n.-33del) n.1009del n.931del n.840del c.7348del (p.Val2450LeufsTer10) c.3316del (p.Val1106LeufsTer10) c.337del (p.Val113LeufsTer10) c.436del (p.Val146LeufsTer10) c.7336del (p.Val2446LeufsTer10) c.105del (n.105del) c.7333del (p.Val2445LeufsTer10) c.7345del (p.Val2449LeufsTer10) c.7324del (p.Val2442LeufsTer10) c.6979del (p.Val2327LeufsTer10) c.3325del (p.Val1109LeufsTer10) c.7219del (p.Val2407LeufsTer10) c.7210del (p.Val2404LeufsTer10) c.7225del (p.Val2409LeufsTer10) c.1522del (p.Val508LeufsTer10) | |
X | g.31774155C>A | CA515859411 | DMD | c.2193G>T (p.Val731=) c.-34G>T (n.-34G>T) n.1008G>T n.930G>T n.839G>T c.7347G>T (p.Val2449=) c.3315G>T (p.Val1105=) c.336G>T (p.Val112=) c.435G>T (p.Val145=) c.7335G>T (p.Val2445=) c.104G>T (n.104G>T) c.7332G>T (p.Val2444=) c.7344G>T (p.Val2448=) c.7323G>T (p.Val2441=) c.6978G>T (p.Val2326=) c.3324G>T (p.Val1108=) c.7218G>T (p.Val2406=) c.7209G>T (p.Val2403=) c.7224G>T (p.Val2408=) c.1521G>T (p.Val507=) | |
X | g.31774155C>G | CA515859412 | DMD | c.2193G>C (p.Val731=) c.-34G>C (n.-34G>C) n.1008G>C n.930G>C n.839G>C c.7347G>C (p.Val2449=) c.3315G>C (p.Val1105=) c.336G>C (p.Val112=) c.435G>C (p.Val145=) c.7335G>C (p.Val2445=) c.104G>C (n.104G>C) c.7332G>C (p.Val2444=) c.7344G>C (p.Val2448=) c.7323G>C (p.Val2441=) c.6978G>C (p.Val2326=) c.3324G>C (p.Val1108=) c.7218G>C (p.Val2406=) c.7209G>C (p.Val2403=) c.7224G>C (p.Val2408=) c.1521G>C (p.Val507=) | gnomAD v4 |
X | g.31774155C>T | CA515859413 | DMD | c.2193G>A (p.Val731=) c.-34G>A (n.-34G>A) n.1008G>A n.930G>A n.839G>A c.7347G>A (p.Val2449=) c.3315G>A (p.Val1105=) c.336G>A (p.Val112=) c.435G>A (p.Val145=) c.7335G>A (p.Val2445=) c.104G>A (n.104G>A) c.7332G>A (p.Val2444=) c.7344G>A (p.Val2448=) c.7323G>A (p.Val2441=) c.6978G>A (p.Val2326=) c.3324G>A (p.Val1108=) c.7218G>A (p.Val2406=) c.7209G>A (p.Val2403=) c.7224G>A (p.Val2408=) c.1521G>A (p.Val507=) | |
X | g.31774156A= | CA2422548669 | DMD | c.2192T= (p.Val731=) c.-35T= (n.-35T=) n.1007T= n.929T= n.838T= c.7346T= (p.Val2449=) c.3314T= (p.Val1105=) c.335T= (p.Val112=) c.434T= (p.Val145=) c.7334T= (p.Val2445=) c.103T= (n.103T=) c.7331T= (p.Val2444=) c.7343T= (p.Val2448=) c.7322T= (p.Val2441=) c.6977T= (p.Val2326=) c.3323T= (p.Val1108=) c.7217T= (p.Val2406=) c.7208T= (p.Val2403=) c.7223T= (p.Val2408=) c.1520T= (p.Val507=) | |
X | g.31774156A>C | CA412659127 | DMD | c.2192T>G (p.Val731Gly) c.-35T>G (n.-35T>G) n.1007T>G n.929T>G n.838T>G c.7346T>G (p.Val2449Gly) c.3314T>G (p.Val1105Gly) c.335T>G (p.Val112Gly) c.434T>G (p.Val145Gly) c.7334T>G (p.Val2445Gly) c.103T>G (n.103T>G) c.7331T>G (p.Val2444Gly) c.7343T>G (p.Val2448Gly) c.7322T>G (p.Val2441Gly) c.6977T>G (p.Val2326Gly) c.3323T>G (p.Val1108Gly) c.7217T>G (p.Val2406Gly) c.7208T>G (p.Val2403Gly) c.7223T>G (p.Val2408Gly) c.1520T>G (p.Val507Gly) | |
X | g.31774156A>G | CA412659128 | DMD | c.2192T>C (p.Val731Ala) c.-35T>C (n.-35T>C) n.1007T>C n.929T>C n.838T>C c.7346T>C (p.Val2449Ala) c.3314T>C (p.Val1105Ala) c.335T>C (p.Val112Ala) c.434T>C (p.Val145Ala) c.7334T>C (p.Val2445Ala) c.103T>C (n.103T>C) c.7331T>C (p.Val2444Ala) c.7343T>C (p.Val2448Ala) c.7322T>C (p.Val2441Ala) c.6977T>C (p.Val2326Ala) c.3323T>C (p.Val1108Ala) c.7217T>C (p.Val2406Ala) c.7208T>C (p.Val2403Ala) c.7223T>C (p.Val2408Ala) c.1520T>C (p.Val507Ala) | gnomAD v4 |
X | g.31774156A>T | CA412659129 | DMD | c.2192T>A (p.Val731Glu) c.-35T>A (n.-35T>A) n.1007T>A n.929T>A n.838T>A c.7346T>A (p.Val2449Glu) c.3314T>A (p.Val1105Glu) c.335T>A (p.Val112Glu) c.434T>A (p.Val145Glu) c.7334T>A (p.Val2445Glu) c.103T>A (n.103T>A) c.7331T>A (p.Val2444Glu) c.7343T>A (p.Val2448Glu) c.7322T>A (p.Val2441Glu) c.6977T>A (p.Val2326Glu) c.3323T>A (p.Val1108Glu) c.7217T>A (p.Val2406Glu) c.7208T>A (p.Val2403Glu) c.7223T>A (p.Val2408Glu) c.1520T>A (p.Val507Glu) | dbSNP |
X | g.31774157C>A | CA412659130 | DMD | c.2191G>T (p.Val731Leu) c.-36G>T (n.-36G>T) n.1006G>T n.928G>T n.837G>T c.7345G>T (p.Val2449Leu) c.3313G>T (p.Val1105Leu) c.334G>T (p.Val112Leu) c.433G>T (p.Val145Leu) c.7333G>T (p.Val2445Leu) c.102G>T (n.102G>T) c.7330G>T (p.Val2444Leu) c.7342G>T (p.Val2448Leu) c.7321G>T (p.Val2441Leu) c.6976G>T (p.Val2326Leu) c.3322G>T (p.Val1108Leu) c.7216G>T (p.Val2406Leu) c.7207G>T (p.Val2403Leu) c.7222G>T (p.Val2408Leu) c.1519G>T (p.Val507Leu) | |
X | g.31774157C= | CA2422548670 | DMD | c.2191G= (p.Val731=) c.-36G= (n.-36G=) n.1006G= n.928G= n.837G= c.7345G= (p.Val2449=) c.3313G= (p.Val1105=) c.334G= (p.Val112=) c.433G= (p.Val145=) c.7333G= (p.Val2445=) c.102G= (n.102G=) c.7330G= (p.Val2444=) c.7342G= (p.Val2448=) c.7321G= (p.Val2441=) c.6976G= (p.Val2326=) c.3322G= (p.Val1108=) c.7216G= (p.Val2406=) c.7207G= (p.Val2403=) c.7222G= (p.Val2408=) c.1519G= (p.Val507=) | |
X | g.31774157C>G | CA328470495 | DMD | c.2191G>C (p.Val731Leu) c.-36G>C (n.-36G>C) n.1006G>C n.928G>C n.837G>C c.7345G>C (p.Val2449Leu) c.3313G>C (p.Val1105Leu) c.334G>C (p.Val112Leu) c.433G>C (p.Val145Leu) c.7333G>C (p.Val2445Leu) c.102G>C (n.102G>C) c.7330G>C (p.Val2444Leu) c.7342G>C (p.Val2448Leu) c.7321G>C (p.Val2441Leu) c.6976G>C (p.Val2326Leu) c.3322G>C (p.Val1108Leu) c.7216G>C (p.Val2406Leu) c.7207G>C (p.Val2403Leu) c.7222G>C (p.Val2408Leu) c.1519G>C (p.Val507Leu) | dbSNP |
X | g.31774157C>T | CA412659131 | DMD | c.2191G>A (p.Val731Met) c.-36G>A (n.-36G>A) n.1006G>A n.928G>A n.837G>A c.7345G>A (p.Val2449Met) c.3313G>A (p.Val1105Met) c.334G>A (p.Val112Met) c.433G>A (p.Val145Met) c.7333G>A (p.Val2445Met) c.102G>A (n.102G>A) c.7330G>A (p.Val2444Met) c.7342G>A (p.Val2448Met) c.7321G>A (p.Val2441Met) c.6976G>A (p.Val2326Met) c.3322G>A (p.Val1108Met) c.7216G>A (p.Val2406Met) c.7207G>A (p.Val2403Met) c.7222G>A (p.Val2408Met) c.1519G>A (p.Val507Met) | gnomAD v4 |
X | g.31774158A>C | CA515859416 | DMD | c.2190T>G (p.Pro730=) c.-37T>G (n.-37T>G) n.1005T>G n.927T>G n.836T>G c.7344T>G (p.Pro2448=) c.3312T>G (p.Pro1104=) c.333T>G (p.Pro111=) c.432T>G (p.Pro144=) c.7332T>G (p.Pro2444=) c.101T>G (n.101T>G) c.7329T>G (p.Pro2443=) c.7341T>G (p.Pro2447=) c.7320T>G (p.Pro2440=) c.6975T>G (p.Pro2325=) c.3321T>G (p.Pro1107=) c.7215T>G (p.Pro2405=) c.7206T>G (p.Pro2402=) c.7221T>G (p.Pro2407=) c.1518T>G (p.Pro506=) | |
X | g.31774158A>G | CA515859415 | DMD | c.2190T>C (p.Pro730=) c.-37T>C (n.-37T>C) n.1005T>C n.927T>C n.836T>C c.7344T>C (p.Pro2448=) c.3312T>C (p.Pro1104=) c.333T>C (p.Pro111=) c.432T>C (p.Pro144=) c.7332T>C (p.Pro2444=) c.101T>C (n.101T>C) c.7329T>C (p.Pro2443=) c.7341T>C (p.Pro2447=) c.7320T>C (p.Pro2440=) c.6975T>C (p.Pro2325=) c.3321T>C (p.Pro1107=) c.7215T>C (p.Pro2405=) c.7206T>C (p.Pro2402=) c.7221T>C (p.Pro2407=) c.1518T>C (p.Pro506=) | ClinVar |
X | g.31774158A>T | CA515859414 | DMD | c.2190T>A (p.Pro730=) c.-37T>A (n.-37T>A) n.1005T>A n.927T>A n.836T>A c.7344T>A (p.Pro2448=) c.3312T>A (p.Pro1104=) c.333T>A (p.Pro111=) c.432T>A (p.Pro144=) c.7332T>A (p.Pro2444=) c.101T>A (n.101T>A) c.7329T>A (p.Pro2443=) c.7341T>A (p.Pro2447=) c.7320T>A (p.Pro2440=) c.6975T>A (p.Pro2325=) c.3321T>A (p.Pro1107=) c.7215T>A (p.Pro2405=) c.7206T>A (p.Pro2402=) c.7221T>A (p.Pro2407=) c.1518T>A (p.Pro506=) | |
X | g.31774159G>A | CA412659132 | DMD | c.2189C>T (p.Pro730Leu) c.-38C>T (n.-38C>T) n.1004C>T n.926C>T n.835C>T c.7343C>T (p.Pro2448Leu) c.3311C>T (p.Pro1104Leu) c.332C>T (p.Pro111Leu) c.431C>T (p.Pro144Leu) c.7331C>T (p.Pro2444Leu) c.100C>T (n.100C>T) c.7328C>T (p.Pro2443Leu) c.7340C>T (p.Pro2447Leu) c.7319C>T (p.Pro2440Leu) c.6974C>T (p.Pro2325Leu) c.3320C>T (p.Pro1107Leu) c.7214C>T (p.Pro2405Leu) c.7205C>T (p.Pro2402Leu) c.7220C>T (p.Pro2407Leu) c.1517C>T (p.Pro506Leu) | |
X | g.31774159G>C | CA412659133 | DMD | c.2189C>G (p.Pro730Arg) c.-38C>G (n.-38C>G) n.1004C>G n.926C>G n.835C>G c.7343C>G (p.Pro2448Arg) c.3311C>G (p.Pro1104Arg) c.332C>G (p.Pro111Arg) c.431C>G (p.Pro144Arg) c.7331C>G (p.Pro2444Arg) c.100C>G (n.100C>G) c.7328C>G (p.Pro2443Arg) c.7340C>G (p.Pro2447Arg) c.7319C>G (p.Pro2440Arg) c.6974C>G (p.Pro2325Arg) c.3320C>G (p.Pro1107Arg) c.7214C>G (p.Pro2405Arg) c.7205C>G (p.Pro2402Arg) c.7220C>G (p.Pro2407Arg) c.1517C>G (p.Pro506Arg) | |
X | g.31774159G>T | CA412659134 | DMD | c.2189C>A (p.Pro730His) c.-38C>A (n.-38C>A) n.1004C>A n.926C>A n.835C>A c.7343C>A (p.Pro2448His) c.3311C>A (p.Pro1104His) c.332C>A (p.Pro111His) c.431C>A (p.Pro144His) c.7331C>A (p.Pro2444His) c.100C>A (n.100C>A) c.7328C>A (p.Pro2443His) c.7340C>A (p.Pro2447His) c.7319C>A (p.Pro2440His) c.6974C>A (p.Pro2325His) c.3320C>A (p.Pro1107His) c.7214C>A (p.Pro2405His) c.7205C>A (p.Pro2402His) c.7220C>A (p.Pro2407His) c.1517C>A (p.Pro506His) | |
X | g.31774160G>A | CA412659135 | DMD | c.2188C>T (p.Pro730Ser) c.-39C>T (n.-39C>T) n.1003C>T n.925C>T n.834C>T c.7342C>T (p.Pro2448Ser) c.3310C>T (p.Pro1104Ser) c.331C>T (p.Pro111Ser) c.430C>T (p.Pro144Ser) c.7330C>T (p.Pro2444Ser) c.99C>T (n.99C>T) c.7327C>T (p.Pro2443Ser) c.7339C>T (p.Pro2447Ser) c.7318C>T (p.Pro2440Ser) c.6973C>T (p.Pro2325Ser) c.3319C>T (p.Pro1107Ser) c.7213C>T (p.Pro2405Ser) c.7204C>T (p.Pro2402Ser) c.7219C>T (p.Pro2407Ser) c.1516C>T (p.Pro506Ser) | |
X | g.31774160G>C | CA412659137 | DMD | c.2188C>G (p.Pro730Ala) c.-39C>G (n.-39C>G) n.1003C>G n.925C>G n.834C>G c.7342C>G (p.Pro2448Ala) c.3310C>G (p.Pro1104Ala) c.331C>G (p.Pro111Ala) c.430C>G (p.Pro144Ala) c.7330C>G (p.Pro2444Ala) c.99C>G (n.99C>G) c.7327C>G (p.Pro2443Ala) c.7339C>G (p.Pro2447Ala) c.7318C>G (p.Pro2440Ala) c.6973C>G (p.Pro2325Ala) c.3319C>G (p.Pro1107Ala) c.7213C>G (p.Pro2405Ala) c.7204C>G (p.Pro2402Ala) c.7219C>G (p.Pro2407Ala) c.1516C>G (p.Pro506Ala) | |
X | g.31774160G>T | CA412659136 | DMD | c.2188C>A (p.Pro730Thr) c.-39C>A (n.-39C>A) n.1003C>A n.925C>A n.834C>A c.7342C>A (p.Pro2448Thr) c.3310C>A (p.Pro1104Thr) c.331C>A (p.Pro111Thr) c.430C>A (p.Pro144Thr) c.7330C>A (p.Pro2444Thr) c.99C>A (n.99C>A) c.7327C>A (p.Pro2443Thr) c.7339C>A (p.Pro2447Thr) c.7318C>A (p.Pro2440Thr) c.6973C>A (p.Pro2325Thr) c.3319C>A (p.Pro1107Thr) c.7213C>A (p.Pro2405Thr) c.7204C>A (p.Pro2402Thr) c.7219C>A (p.Pro2407Thr) c.1516C>A (p.Pro506Thr) | |
X | g.31774161T>A | CA412659138 | DMD | c.2187A>T (p.Gln729His) c.-40A>T (n.-40A>T) n.1002A>T n.924A>T n.833A>T c.7341A>T (p.Gln2447His) c.3309A>T (p.Gln1103His) c.330A>T (p.Gln110His) c.429A>T (p.Gln143His) c.7329A>T (p.Gln2443His) c.98A>T (n.98A>T) c.7326A>T (p.Gln2442His) c.7338A>T (p.Gln2446His) c.7317A>T (p.Gln2439His) c.6972A>T (p.Gln2324His) c.3318A>T (p.Gln1106His) c.7212A>T (p.Gln2404His) c.7203A>T (p.Gln2401His) c.7218A>T (p.Gln2406His) c.1515A>T (p.Gln505His) | |
X | g.31774161T>C | CA10378285 | DMD | c.2187A>G (p.Gln729=) c.-40A>G (n.-40A>G) n.1002A>G n.924A>G n.833A>G c.7341A>G (p.Gln2447=) c.3309A>G (p.Gln1103=) c.330A>G (p.Gln110=) c.429A>G (p.Gln143=) c.7329A>G (p.Gln2443=) c.98A>G (n.98A>G) c.7326A>G (p.Gln2442=) c.7338A>G (p.Gln2446=) c.7317A>G (p.Gln2439=) c.6972A>G (p.Gln2324=) c.3318A>G (p.Gln1106=) c.7212A>G (p.Gln2404=) c.7203A>G (p.Gln2401=) c.7218A>G (p.Gln2406=) c.1515A>G (p.Gln505=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774161T>G | CA412659139 | DMD | c.2187A>C (p.Gln729His) c.-40A>C (n.-40A>C) n.1002A>C n.924A>C n.833A>C c.7341A>C (p.Gln2447His) c.3309A>C (p.Gln1103His) c.330A>C (p.Gln110His) c.429A>C (p.Gln143His) c.7329A>C (p.Gln2443His) c.98A>C (n.98A>C) c.7326A>C (p.Gln2442His) c.7338A>C (p.Gln2446His) c.7317A>C (p.Gln2439His) c.6972A>C (p.Gln2324His) c.3318A>C (p.Gln1106His) c.7212A>C (p.Gln2404His) c.7203A>C (p.Gln2401His) c.7218A>C (p.Gln2406His) c.1515A>C (p.Gln505His) | |
X | g.31774161T= | CA2422548671 | DMD | c.2187A= (p.Gln729=) c.-40A= (n.-40A=) n.1002A= n.924A= n.833A= c.7341A= (p.Gln2447=) c.3309A= (p.Gln1103=) c.330A= (p.Gln110=) c.429A= (p.Gln143=) c.7329A= (p.Gln2443=) c.98A= (n.98A=) c.7326A= (p.Gln2442=) c.7338A= (p.Gln2446=) c.7317A= (p.Gln2439=) c.6972A= (p.Gln2324=) c.3318A= (p.Gln1106=) c.7212A= (p.Gln2404=) c.7203A= (p.Gln2401=) c.7218A= (p.Gln2406=) c.1515A= (p.Gln505=) | |
X | g.31774162del | CA2695232466 | DMD | c.2187del (p.Gln729HisfsTer13) c.-40del (n.-40del) n.1002del n.924del n.833del c.7341del (p.Gln2447HisfsTer13) c.3309del (p.Gln1103HisfsTer13) c.330del (p.Gln110HisfsTer13) c.429del (p.Gln143HisfsTer13) c.7329del (p.Gln2443HisfsTer13) c.98del (n.98del) c.7326del (p.Gln2442HisfsTer13) c.7338del (p.Gln2446HisfsTer13) c.7317del (p.Gln2439HisfsTer13) c.6972del (p.Gln2324HisfsTer13) c.3318del (p.Gln1106HisfsTer13) c.7212del (p.Gln2404HisfsTer13) c.7203del (p.Gln2401HisfsTer13) c.7218del (p.Gln2406HisfsTer13) c.1515del (p.Gln505HisfsTer13) | |
X | g.31774162T>A | CA412659140 | DMD | c.2186A>T (p.Gln729Leu) c.-41A>T (n.-41A>T) n.1001A>T n.923A>T n.832A>T c.7340A>T (p.Gln2447Leu) c.3308A>T (p.Gln1103Leu) c.329A>T (p.Gln110Leu) c.428A>T (p.Gln143Leu) c.7328A>T (p.Gln2443Leu) c.97A>T (n.97A>T) c.7325A>T (p.Gln2442Leu) c.7337A>T (p.Gln2446Leu) c.7316A>T (p.Gln2439Leu) c.6971A>T (p.Gln2324Leu) c.3317A>T (p.Gln1106Leu) c.7211A>T (p.Gln2404Leu) c.7202A>T (p.Gln2401Leu) c.7217A>T (p.Gln2406Leu) c.1514A>T (p.Gln505Leu) | |
X | g.31774162T>C | CA412659141 | DMD | c.2186A>G (p.Gln729Arg) c.-41A>G (n.-41A>G) n.1001A>G n.923A>G n.832A>G c.7340A>G (p.Gln2447Arg) c.3308A>G (p.Gln1103Arg) c.329A>G (p.Gln110Arg) c.428A>G (p.Gln143Arg) c.7328A>G (p.Gln2443Arg) c.97A>G (n.97A>G) c.7325A>G (p.Gln2442Arg) c.7337A>G (p.Gln2446Arg) c.7316A>G (p.Gln2439Arg) c.6971A>G (p.Gln2324Arg) c.3317A>G (p.Gln1106Arg) c.7211A>G (p.Gln2404Arg) c.7202A>G (p.Gln2401Arg) c.7217A>G (p.Gln2406Arg) c.1514A>G (p.Gln505Arg) | |
X | g.31774162T>G | CA412659142 | DMD | c.2186A>C (p.Gln729Pro) c.-41A>C (n.-41A>C) n.1001A>C n.923A>C n.832A>C c.7340A>C (p.Gln2447Pro) c.3308A>C (p.Gln1103Pro) c.329A>C (p.Gln110Pro) c.428A>C (p.Gln143Pro) c.7328A>C (p.Gln2443Pro) c.97A>C (n.97A>C) c.7325A>C (p.Gln2442Pro) c.7337A>C (p.Gln2446Pro) c.7316A>C (p.Gln2439Pro) c.6971A>C (p.Gln2324Pro) c.3317A>C (p.Gln1106Pro) c.7211A>C (p.Gln2404Pro) c.7202A>C (p.Gln2401Pro) c.7217A>C (p.Gln2406Pro) c.1514A>C (p.Gln505Pro) | |
X | g.31774163G>A | CA412659143 | DMD | c.2185C>T (p.Gln729Ter) c.-42C>T (n.-42C>T) n.1000C>T n.922C>T n.831C>T c.7339C>T (p.Gln2447Ter) c.3307C>T (p.Gln1103Ter) c.328C>T (p.Gln110Ter) c.427C>T (p.Gln143Ter) c.7327C>T (p.Gln2443Ter) c.96C>T (n.96C>T) c.7324C>T (p.Gln2442Ter) c.7336C>T (p.Gln2446Ter) c.7315C>T (p.Gln2439Ter) c.6970C>T (p.Gln2324Ter) c.3316C>T (p.Gln1106Ter) c.7210C>T (p.Gln2404Ter) c.7201C>T (p.Gln2401Ter) c.7216C>T (p.Gln2406Ter) c.1513C>T (p.Gln505Ter) | dbSNP |
X | g.31774163G>C | CA412659144 | DMD | c.2185C>G (p.Gln729Glu) c.-42C>G (n.-42C>G) n.1000C>G n.922C>G n.831C>G c.7339C>G (p.Gln2447Glu) c.3307C>G (p.Gln1103Glu) c.328C>G (p.Gln110Glu) c.427C>G (p.Gln143Glu) c.7327C>G (p.Gln2443Glu) c.96C>G (n.96C>G) c.7324C>G (p.Gln2442Glu) c.7336C>G (p.Gln2446Glu) c.7315C>G (p.Gln2439Glu) c.6970C>G (p.Gln2324Glu) c.3316C>G (p.Gln1106Glu) c.7210C>G (p.Gln2404Glu) c.7201C>G (p.Gln2401Glu) c.7216C>G (p.Gln2406Glu) c.1513C>G (p.Gln505Glu) | |
X | g.31774163G>T | CA412659145 | DMD | c.2185C>A (p.Gln729Lys) c.-42C>A (n.-42C>A) n.1000C>A n.922C>A n.831C>A c.7339C>A (p.Gln2447Lys) c.3307C>A (p.Gln1103Lys) c.328C>A (p.Gln110Lys) c.427C>A (p.Gln143Lys) c.7327C>A (p.Gln2443Lys) c.96C>A (n.96C>A) c.7324C>A (p.Gln2442Lys) c.7336C>A (p.Gln2446Lys) c.7315C>A (p.Gln2439Lys) c.6970C>A (p.Gln2324Lys) c.3316C>A (p.Gln1106Lys) c.7210C>A (p.Gln2404Lys) c.7201C>A (p.Gln2401Lys) c.7216C>A (p.Gln2406Lys) c.1513C>A (p.Gln505Lys) | gnomAD v4 |
X | g.31774164T>A | CA515859417 | DMD | c.2184A>T (p.Thr728=) c.-43A>T (n.-43A>T) n.999A>T n.921A>T n.830A>T c.7338A>T (p.Thr2446=) c.3306A>T (p.Thr1102=) c.327A>T (p.Thr109=) c.426A>T (p.Thr142=) c.7326A>T (p.Thr2442=) c.95A>T (n.95A>T) c.7323A>T (p.Thr2441=) c.7335A>T (p.Thr2445=) c.7314A>T (p.Thr2438=) c.6969A>T (p.Thr2323=) c.3315A>T (p.Thr1105=) c.7209A>T (p.Thr2403=) c.7200A>T (p.Thr2400=) c.7215A>T (p.Thr2405=) c.1512A>T (p.Thr504=) | |
X | g.31774164T>C | CA10378286 | DMD | c.2184A>G (p.Thr728=) c.-43A>G (n.-43A>G) n.999A>G n.921A>G n.830A>G c.7338A>G (p.Thr2446=) c.3306A>G (p.Thr1102=) c.327A>G (p.Thr109=) c.426A>G (p.Thr142=) c.7326A>G (p.Thr2442=) c.95A>G (n.95A>G) c.7323A>G (p.Thr2441=) c.7335A>G (p.Thr2445=) c.7314A>G (p.Thr2438=) c.6969A>G (p.Thr2323=) c.3315A>G (p.Thr1105=) c.7209A>G (p.Thr2403=) c.7200A>G (p.Thr2400=) c.7215A>G (p.Thr2405=) c.1512A>G (p.Thr504=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774164T>G | CA515859418 | DMD | c.2184A>C (p.Thr728=) c.-43A>C (n.-43A>C) n.999A>C n.921A>C n.830A>C c.7338A>C (p.Thr2446=) c.3306A>C (p.Thr1102=) c.327A>C (p.Thr109=) c.426A>C (p.Thr142=) c.7326A>C (p.Thr2442=) c.95A>C (n.95A>C) c.7323A>C (p.Thr2441=) c.7335A>C (p.Thr2445=) c.7314A>C (p.Thr2438=) c.6969A>C (p.Thr2323=) c.3315A>C (p.Thr1105=) c.7209A>C (p.Thr2403=) c.7200A>C (p.Thr2400=) c.7215A>C (p.Thr2405=) c.1512A>C (p.Thr504=) | |
X | g.31774164T= | CA2422548672 | DMD | c.2184A= (p.Thr728=) c.-43A= (n.-43A=) n.999A= n.921A= n.830A= c.7338A= (p.Thr2446=) c.3306A= (p.Thr1102=) c.327A= (p.Thr109=) c.426A= (p.Thr142=) c.7326A= (p.Thr2442=) c.95A= (n.95A=) c.7323A= (p.Thr2441=) c.7335A= (p.Thr2445=) c.7314A= (p.Thr2438=) c.6969A= (p.Thr2323=) c.3315A= (p.Thr1105=) c.7209A= (p.Thr2403=) c.7200A= (p.Thr2400=) c.7215A= (p.Thr2405=) c.1512A= (p.Thr504=) | |
X | g.31774165G>A | CA412659147 | DMD | c.2183C>T (p.Thr728Ile) c.-44C>T (n.-44C>T) n.998C>T n.920C>T n.829C>T c.7337C>T (p.Thr2446Ile) c.3305C>T (p.Thr1102Ile) c.326C>T (p.Thr109Ile) c.425C>T (p.Thr142Ile) c.7325C>T (p.Thr2442Ile) c.94C>T (n.94C>T) c.7322C>T (p.Thr2441Ile) c.7334C>T (p.Thr2445Ile) c.7313C>T (p.Thr2438Ile) c.6968C>T (p.Thr2323Ile) c.3314C>T (p.Thr1105Ile) c.7208C>T (p.Thr2403Ile) c.7199C>T (p.Thr2400Ile) c.7214C>T (p.Thr2405Ile) c.1511C>T (p.Thr504Ile) | |
X | g.31774165G>C | CA412659148 | DMD | c.2183C>G (p.Thr728Arg) c.-44C>G (n.-44C>G) n.998C>G n.920C>G n.829C>G c.7337C>G (p.Thr2446Arg) c.3305C>G (p.Thr1102Arg) c.326C>G (p.Thr109Arg) c.425C>G (p.Thr142Arg) c.7325C>G (p.Thr2442Arg) c.94C>G (n.94C>G) c.7322C>G (p.Thr2441Arg) c.7334C>G (p.Thr2445Arg) c.7313C>G (p.Thr2438Arg) c.6968C>G (p.Thr2323Arg) c.3314C>G (p.Thr1105Arg) c.7208C>G (p.Thr2403Arg) c.7199C>G (p.Thr2400Arg) c.7214C>G (p.Thr2405Arg) c.1511C>G (p.Thr504Arg) | |
X | g.31774165G>T | CA412659146 | DMD | c.2183C>A (p.Thr728Lys) c.-44C>A (n.-44C>A) n.998C>A n.920C>A n.829C>A c.7337C>A (p.Thr2446Lys) c.3305C>A (p.Thr1102Lys) c.326C>A (p.Thr109Lys) c.425C>A (p.Thr142Lys) c.7325C>A (p.Thr2442Lys) c.94C>A (n.94C>A) c.7322C>A (p.Thr2441Lys) c.7334C>A (p.Thr2445Lys) c.7313C>A (p.Thr2438Lys) c.6968C>A (p.Thr2323Lys) c.3314C>A (p.Thr1105Lys) c.7208C>A (p.Thr2403Lys) c.7199C>A (p.Thr2400Lys) c.7214C>A (p.Thr2405Lys) c.1511C>A (p.Thr504Lys) | gnomAD v4 |
X | g.31774166T>A | CA412659149 | DMD | c.2182A>T (p.Thr728Ser) c.-45A>T (n.-45A>T) n.997A>T n.919A>T n.828A>T c.7336A>T (p.Thr2446Ser) c.3304A>T (p.Thr1102Ser) c.325A>T (p.Thr109Ser) c.424A>T (p.Thr142Ser) c.7324A>T (p.Thr2442Ser) c.93A>T (p.Ter31Cys) c.7321A>T (p.Thr2441Ser) c.7333A>T (p.Thr2445Ser) c.7312A>T (p.Thr2438Ser) c.6967A>T (p.Thr2323Ser) c.3313A>T (p.Thr1105Ser) c.7207A>T (p.Thr2403Ser) c.7198A>T (p.Thr2400Ser) c.7213A>T (p.Thr2405Ser) c.1510A>T (p.Thr504Ser) | |
X | g.31774166T>C | CA412659150 | DMD | c.2182A>G (p.Thr728Ala) c.-45A>G (n.-45A>G) n.997A>G n.919A>G n.828A>G c.7336A>G (p.Thr2446Ala) c.3304A>G (p.Thr1102Ala) c.325A>G (p.Thr109Ala) c.424A>G (p.Thr142Ala) c.7324A>G (p.Thr2442Ala) c.93A>G (p.Ter31Trp) c.7321A>G (p.Thr2441Ala) c.7333A>G (p.Thr2445Ala) c.7312A>G (p.Thr2438Ala) c.6967A>G (p.Thr2323Ala) c.3313A>G (p.Thr1105Ala) c.7207A>G (p.Thr2403Ala) c.7198A>G (p.Thr2400Ala) c.7213A>G (p.Thr2405Ala) c.1510A>G (p.Thr504Ala) | gnomAD v4 |
X | g.31774166T>G | CA412659151 | DMD | c.2182A>C (p.Thr728Pro) c.-45A>C (n.-45A>C) n.997A>C n.919A>C n.828A>C c.7336A>C (p.Thr2446Pro) c.3304A>C (p.Thr1102Pro) c.325A>C (p.Thr109Pro) c.424A>C (p.Thr142Pro) c.7324A>C (p.Thr2442Pro) c.93A>C (p.Ter31Cys) c.7321A>C (p.Thr2441Pro) c.7333A>C (p.Thr2445Pro) c.7312A>C (p.Thr2438Pro) c.6967A>C (p.Thr2323Pro) c.3313A>C (p.Thr1105Pro) c.7207A>C (p.Thr2403Pro) c.7198A>C (p.Thr2400Pro) c.7213A>C (p.Thr2405Pro) c.1510A>C (p.Thr504Pro) | |
X | g.31774167C>A | CA515859419 | DMD | c.2181G>T (p.Val727=) c.-46G>T (n.-46G>T) n.996G>T n.918G>T n.827G>T c.7335G>T (p.Val2445=) c.3303G>T (p.Val1101=) c.324G>T (p.Val108=) c.423G>T (p.Val141=) c.7323G>T (p.Val2441=) c.92G>T (p.Ter31Leu) c.7320G>T (p.Val2440=) c.7332G>T (p.Val2444=) c.7311G>T (p.Val2437=) c.6966G>T (p.Val2322=) c.3312G>T (p.Val1104=) c.7206G>T (p.Val2402=) c.7197G>T (p.Val2399=) c.7212G>T (p.Val2404=) c.1509G>T (p.Val503=) | |
X | g.31774167C= | CA2422548673 | DMD | c.2181G= (p.Val727=) c.-46G= (n.-46G=) n.996G= n.918G= n.827G= c.7335G= (p.Val2445=) c.3303G= (p.Val1101=) c.324G= (p.Val108=) c.423G= (p.Val141=) c.7323G= (p.Val2441=) c.92G= (p.Ter31=) c.7320G= (p.Val2440=) c.7332G= (p.Val2444=) c.7311G= (p.Val2437=) c.6966G= (p.Val2322=) c.3312G= (p.Val1104=) c.7206G= (p.Val2402=) c.7197G= (p.Val2399=) c.7212G= (p.Val2404=) c.1509G= (p.Val503=) | |
X | g.31774167C>G | CA515859420 | DMD | c.2181G>C (p.Val727=) c.-46G>C (n.-46G>C) n.996G>C n.918G>C n.827G>C c.7335G>C (p.Val2445=) c.3303G>C (p.Val1101=) c.324G>C (p.Val108=) c.423G>C (p.Val141=) c.7323G>C (p.Val2441=) c.92G>C (p.Ter31Ser) c.7320G>C (p.Val2440=) c.7332G>C (p.Val2444=) c.7311G>C (p.Val2437=) c.6966G>C (p.Val2322=) c.3312G>C (p.Val1104=) c.7206G>C (p.Val2402=) c.7197G>C (p.Val2399=) c.7212G>C (p.Val2404=) c.1509G>C (p.Val503=) | |
X | g.31774167C>T | CA515859421 | DMD | c.2181G>A (p.Val727=) c.-46G>A (n.-46G>A) n.996G>A n.918G>A n.827G>A c.7335G>A (p.Val2445=) c.3303G>A (p.Val1101=) c.324G>A (p.Val108=) c.423G>A (p.Val141=) c.7323G>A (p.Val2441=) c.92G>A (p.Ter31=) c.7320G>A (p.Val2440=) c.7332G>A (p.Val2444=) c.7311G>A (p.Val2437=) c.6966G>A (p.Val2322=) c.3312G>A (p.Val1104=) c.7206G>A (p.Val2402=) c.7197G>A (p.Val2399=) c.7212G>A (p.Val2404=) c.1509G>A (p.Val503=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774168_31774169del | CA2579579131 | DMD | c.2180_2181del (p.Val727AspfsTer7) c.-47_-46del (n.-47_-46del) n.995_996del n.917_918del n.826_827del c.7334_7335del (p.Val2445AspfsTer7) c.3302_3303del (p.Val1101AspfsTer7) c.323_324del (p.Val108AspfsTer7) c.422_423del (p.Val141AspfsTer7) c.7322_7323del (p.Val2441AspfsTer7) c.91_92del (p.Ter31ThrextTer?) c.7319_7320del (p.Val2440AspfsTer7) c.7331_7332del (p.Val2444AspfsTer7) c.7310_7311del (p.Val2437AspfsTer7) c.6965_6966del (p.Val2322AspfsTer7) c.3311_3312del (p.Val1104AspfsTer7) c.7205_7206del (p.Val2402AspfsTer7) c.7196_7197del (p.Val2399AspfsTer7) c.7211_7212del (p.Val2404AspfsTer7) c.1508_1509del (p.Val503AspfsTer7) | |
X | g.31774168del | CA2580100613 | DMD | c.2180del (p.Val727GlyfsTer15) c.-47del (n.-47del) n.995del n.917del n.826del c.7334del (p.Val2445GlyfsTer15) c.3302del (p.Val1101GlyfsTer15) c.323del (p.Val108GlyfsTer15) c.422del (p.Val141GlyfsTer15) c.7322del (p.Val2441GlyfsTer15) c.91del (p.Ter31AspextTer7) c.7319del (p.Val2440GlyfsTer15) c.7331del (p.Val2444GlyfsTer15) c.7310del (p.Val2437GlyfsTer15) c.6965del (p.Val2322GlyfsTer15) c.3311del (p.Val1104GlyfsTer15) c.7205del (p.Val2402GlyfsTer15) c.7196del (p.Val2399GlyfsTer15) c.7211del (p.Val2404GlyfsTer15) c.1508del (p.Val503GlyfsTer15) | ClinVar |
X | g.31774168A>C | CA412659152 | DMD | c.2180T>G (p.Val727Gly) c.-47T>G (n.-47T>G) n.995T>G n.917T>G n.826T>G c.7334T>G (p.Val2445Gly) c.3302T>G (p.Val1101Gly) c.323T>G (p.Val108Gly) c.422T>G (p.Val141Gly) c.7322T>G (p.Val2441Gly) c.91T>G (p.Ter31Gly) c.7319T>G (p.Val2440Gly) c.7331T>G (p.Val2444Gly) c.7310T>G (p.Val2437Gly) c.6965T>G (p.Val2322Gly) c.3311T>G (p.Val1104Gly) c.7205T>G (p.Val2402Gly) c.7196T>G (p.Val2399Gly) c.7211T>G (p.Val2404Gly) c.1508T>G (p.Val503Gly) | |
X | g.31774168A>G | CA412659153 | DMD | c.2180T>C (p.Val727Ala) c.-47T>C (n.-47T>C) n.995T>C n.917T>C n.826T>C c.7334T>C (p.Val2445Ala) c.3302T>C (p.Val1101Ala) c.323T>C (p.Val108Ala) c.422T>C (p.Val141Ala) c.7322T>C (p.Val2441Ala) c.91T>C (p.Ter31Arg) c.7319T>C (p.Val2440Ala) c.7331T>C (p.Val2444Ala) c.7310T>C (p.Val2437Ala) c.6965T>C (p.Val2322Ala) c.3311T>C (p.Val1104Ala) c.7205T>C (p.Val2402Ala) c.7196T>C (p.Val2399Ala) c.7211T>C (p.Val2404Ala) c.1508T>C (p.Val503Ala) | |
X | g.31774168A>T | CA412659154 | DMD | c.2180T>A (p.Val727Glu) c.-47T>A (n.-47T>A) n.995T>A n.917T>A n.826T>A c.7334T>A (p.Val2445Glu) c.3302T>A (p.Val1101Glu) c.323T>A (p.Val108Glu) c.422T>A (p.Val141Glu) c.7322T>A (p.Val2441Glu) c.91T>A (p.Ter31Arg) c.7319T>A (p.Val2440Glu) c.7331T>A (p.Val2444Glu) c.7310T>A (p.Val2437Glu) c.6965T>A (p.Val2322Glu) c.3311T>A (p.Val1104Glu) c.7205T>A (p.Val2402Glu) c.7196T>A (p.Val2399Glu) c.7211T>A (p.Val2404Glu) c.1508T>A (p.Val503Glu) | |
X | g.31774169C>A | CA412659157 | DMD | c.2179G>T (p.Val727Leu) c.-48G>T (n.-48G>T) n.994G>T n.916G>T n.825G>T c.7333G>T (p.Val2445Leu) c.3301G>T (p.Val1101Leu) c.322G>T (p.Val108Leu) c.421G>T (p.Val141Leu) c.7321G>T (p.Val2441Leu) c.90G>T (p.Trp30Cys) c.7318G>T (p.Val2440Leu) c.7330G>T (p.Val2444Leu) c.7309G>T (p.Val2437Leu) c.6964G>T (p.Val2322Leu) c.3310G>T (p.Val1104Leu) c.7204G>T (p.Val2402Leu) c.7195G>T (p.Val2399Leu) c.7210G>T (p.Val2404Leu) c.1507G>T (p.Val503Leu) | |
X | g.31774169C>G | CA412659155 | DMD | c.2179G>C (p.Val727Leu) c.-48G>C (n.-48G>C) n.994G>C n.916G>C n.825G>C c.7333G>C (p.Val2445Leu) c.3301G>C (p.Val1101Leu) c.322G>C (p.Val108Leu) c.421G>C (p.Val141Leu) c.7321G>C (p.Val2441Leu) c.90G>C (p.Trp30Cys) c.7318G>C (p.Val2440Leu) c.7330G>C (p.Val2444Leu) c.7309G>C (p.Val2437Leu) c.6964G>C (p.Val2322Leu) c.3310G>C (p.Val1104Leu) c.7204G>C (p.Val2402Leu) c.7195G>C (p.Val2399Leu) c.7210G>C (p.Val2404Leu) c.1507G>C (p.Val503Leu) | ClinVar |
X | g.31774169C>T | CA412659156 | DMD | c.2179G>A (p.Val727Met) c.-48G>A (n.-48G>A) n.994G>A n.916G>A n.825G>A c.7333G>A (p.Val2445Met) c.3301G>A (p.Val1101Met) c.322G>A (p.Val108Met) c.421G>A (p.Val141Met) c.7321G>A (p.Val2441Met) c.90G>A (p.Trp30Ter) c.7318G>A (p.Val2440Met) c.7330G>A (p.Val2444Met) c.7309G>A (p.Val2437Met) c.6964G>A (p.Val2322Met) c.3310G>A (p.Val1104Met) c.7204G>A (p.Val2402Met) c.7195G>A (p.Val2399Met) c.7210G>A (p.Val2404Met) c.1507G>A (p.Val503Met) | |
X | g.31774170C>A | CA515859422 | DMD | c.2178G>T (p.Leu726=) c.-49G>T (n.-49G>T) n.993G>T n.915G>T n.824G>T c.7332G>T (p.Leu2444=) c.3300G>T (p.Leu1100=) c.321G>T (p.Leu107=) c.420G>T (p.Leu140=) c.7320G>T (p.Leu2440=) c.89G>T (p.Trp30Leu) c.7317G>T (p.Leu2439=) c.7329G>T (p.Leu2443=) c.7308G>T (p.Leu2436=) c.6963G>T (p.Leu2321=) c.3309G>T (p.Leu1103=) c.7203G>T (p.Leu2401=) c.7194G>T (p.Leu2398=) c.7209G>T (p.Leu2403=) c.1506G>T (p.Leu502=) | |
X | g.31774170C= | CA2422548674 | DMD | c.2178G= (p.Leu726=) c.-49G= (n.-49G=) n.993G= n.915G= n.824G= c.7332G= (p.Leu2444=) c.3300G= (p.Leu1100=) c.321G= (p.Leu107=) c.420G= (p.Leu140=) c.7320G= (p.Leu2440=) c.89G= (p.Trp30=) c.7317G= (p.Leu2439=) c.7329G= (p.Leu2443=) c.7308G= (p.Leu2436=) c.6963G= (p.Leu2321=) c.3309G= (p.Leu1103=) c.7203G= (p.Leu2401=) c.7194G= (p.Leu2398=) c.7209G= (p.Leu2403=) c.1506G= (p.Leu502=) | |
X | g.31774170C>G | CA515859423 | DMD | c.2178G>C (p.Leu726=) c.-49G>C (n.-49G>C) n.993G>C n.915G>C n.824G>C c.7332G>C (p.Leu2444=) c.3300G>C (p.Leu1100=) c.321G>C (p.Leu107=) c.420G>C (p.Leu140=) c.7320G>C (p.Leu2440=) c.89G>C (p.Trp30Ser) c.7317G>C (p.Leu2439=) c.7329G>C (p.Leu2443=) c.7308G>C (p.Leu2436=) c.6963G>C (p.Leu2321=) c.3309G>C (p.Leu1103=) c.7203G>C (p.Leu2401=) c.7194G>C (p.Leu2398=) c.7209G>C (p.Leu2403=) c.1506G>C (p.Leu502=) | ClinVar |
X | g.31774170C>T | CA515859424 | DMD | c.2178G>A (p.Leu726=) c.-49G>A (n.-49G>A) n.993G>A n.915G>A n.824G>A c.7332G>A (p.Leu2444=) c.3300G>A (p.Leu1100=) c.321G>A (p.Leu107=) c.420G>A (p.Leu140=) c.7320G>A (p.Leu2440=) c.89G>A (p.Trp30Ter) c.7317G>A (p.Leu2439=) c.7329G>A (p.Leu2443=) c.7308G>A (p.Leu2436=) c.6963G>A (p.Leu2321=) c.3309G>A (p.Leu1103=) c.7203G>A (p.Leu2401=) c.7194G>A (p.Leu2398=) c.7209G>A (p.Leu2403=) c.1506G>A (p.Leu502=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.31774171A>C | CA412659158 | DMD | c.2177T>G (p.Leu726Arg) c.-50T>G (n.-50T>G) n.992T>G n.914T>G n.823T>G c.7331T>G (p.Leu2444Arg) c.3299T>G (p.Leu1100Arg) c.320T>G (p.Leu107Arg) c.419T>G (p.Leu140Arg) c.7319T>G (p.Leu2440Arg) c.88T>G (p.Trp30Gly) c.7316T>G (p.Leu2439Arg) c.7328T>G (p.Leu2443Arg) c.7307T>G (p.Leu2436Arg) c.6962T>G (p.Leu2321Arg) c.3308T>G (p.Leu1103Arg) c.7202T>G (p.Leu2401Arg) c.7193T>G (p.Leu2398Arg) c.7208T>G (p.Leu2403Arg) c.1505T>G (p.Leu502Arg) | |
X | g.31774171A>G | CA412659159 | DMD | c.2177T>C (p.Leu726Pro) c.-50T>C (n.-50T>C) n.992T>C n.914T>C n.823T>C c.7331T>C (p.Leu2444Pro) c.3299T>C (p.Leu1100Pro) c.320T>C (p.Leu107Pro) c.419T>C (p.Leu140Pro) c.7319T>C (p.Leu2440Pro) c.88T>C (p.Trp30Arg) c.7316T>C (p.Leu2439Pro) c.7328T>C (p.Leu2443Pro) c.7307T>C (p.Leu2436Pro) c.6962T>C (p.Leu2321Pro) c.3308T>C (p.Leu1103Pro) c.7202T>C (p.Leu2401Pro) c.7193T>C (p.Leu2398Pro) c.7208T>C (p.Leu2403Pro) c.1505T>C (p.Leu502Pro) | |
X | g.31774171A>T | CA412659160 | DMD | c.2177T>A (p.Leu726Gln) c.-50T>A (n.-50T>A) n.992T>A n.914T>A n.823T>A c.7331T>A (p.Leu2444Gln) c.3299T>A (p.Leu1100Gln) c.320T>A (p.Leu107Gln) c.419T>A (p.Leu140Gln) c.7319T>A (p.Leu2440Gln) c.88T>A (p.Trp30Arg) c.7316T>A (p.Leu2439Gln) c.7328T>A (p.Leu2443Gln) c.7307T>A (p.Leu2436Gln) c.6962T>A (p.Leu2321Gln) c.3308T>A (p.Leu1103Gln) c.7202T>A (p.Leu2401Gln) c.7193T>A (p.Leu2398Gln) c.7208T>A (p.Leu2403Gln) c.1505T>A (p.Leu502Gln) | |
X | g.31774172G>A | CA515859425 | DMD | c.2176C>T (p.Leu726=) c.-51C>T (n.-51C>T) n.991C>T n.913C>T n.822C>T c.7330C>T (p.Leu2444=) c.3298C>T (p.Leu1100=) c.319C>T (p.Leu107=) c.418C>T (p.Leu140=) c.7318C>T (p.Leu2440=) c.87C>T (p.Leu29=) c.7315C>T (p.Leu2439=) c.7327C>T (p.Leu2443=) c.7306C>T (p.Leu2436=) c.6961C>T (p.Leu2321=) c.3307C>T (p.Leu1103=) c.7201C>T (p.Leu2401=) c.7192C>T (p.Leu2398=) c.7207C>T (p.Leu2403=) c.1504C>T (p.Leu502=) | |
X | g.31774172G>C | CA412659161 | DMD | c.2176C>G (p.Leu726Val) c.-51C>G (n.-51C>G) n.991C>G n.913C>G n.822C>G c.7330C>G (p.Leu2444Val) c.3298C>G (p.Leu1100Val) c.319C>G (p.Leu107Val) c.418C>G (p.Leu140Val) c.7318C>G (p.Leu2440Val) c.87C>G (p.Leu29=) c.7315C>G (p.Leu2439Val) c.7327C>G (p.Leu2443Val) c.7306C>G (p.Leu2436Val) c.6961C>G (p.Leu2321Val) c.3307C>G (p.Leu1103Val) c.7201C>G (p.Leu2401Val) c.7192C>G (p.Leu2398Val) c.7207C>G (p.Leu2403Val) c.1504C>G (p.Leu502Val) | |
X | g.31774172G>T | CA412659162 | DMD | c.2176C>A (p.Leu726Met) c.-51C>A (n.-51C>A) n.991C>A n.913C>A n.822C>A c.7330C>A (p.Leu2444Met) c.3298C>A (p.Leu1100Met) c.319C>A (p.Leu107Met) c.418C>A (p.Leu140Met) c.7318C>A (p.Leu2440Met) c.87C>A (p.Leu29=) c.7315C>A (p.Leu2439Met) c.7327C>A (p.Leu2443Met) c.7306C>A (p.Leu2436Met) c.6961C>A (p.Leu2321Met) c.3307C>A (p.Leu1103Met) c.7201C>A (p.Leu2401Met) c.7192C>A (p.Leu2398Met) c.7207C>A (p.Leu2403Met) c.1504C>A (p.Leu502Met) | |
X | g.31774172_31774173insT | CA2695232467 | DMD | c.2175_2176insA (p.Leu726ThrfsTer9) c.-52_-51insA (n.-52_-51insA) n.990_991insA n.912_913insA n.821_822insA c.7329_7330insA (p.Leu2444ThrfsTer9) c.3297_3298insA (p.Leu1100ThrfsTer9) c.318_319insA (p.Leu107ThrfsTer9) c.417_418insA (p.Leu140ThrfsTer9) c.7317_7318insA (p.Leu2440ThrfsTer9) c.86_87insA (p.Trp30LeufsTer?) c.7314_7315insA (p.Leu2439ThrfsTer9) c.7326_7327insA (p.Leu2443ThrfsTer9) c.7305_7306insA (p.Leu2436ThrfsTer9) c.6960_6961insA (p.Leu2321ThrfsTer9) c.3306_3307insA (p.Leu1103ThrfsTer9) c.7200_7201insA (p.Leu2401ThrfsTer9) c.7191_7192insA (p.Leu2398ThrfsTer9) c.7206_7207insA (p.Leu2403ThrfsTer9) c.1503_1504insA (p.Leu502ThrfsTer9) | |
X | g.31774173A>C | CA515859426 | DMD | c.2175T>G (p.Thr725=) c.-52T>G (n.-52T>G) n.990T>G n.912T>G n.821T>G c.7329T>G (p.Thr2443=) c.3297T>G (p.Thr1099=) c.318T>G (p.Thr106=) c.417T>G (p.Thr139=) c.7317T>G (p.Thr2439=) c.86T>G (p.Leu29Arg) c.7314T>G (p.Thr2438=) c.7326T>G (p.Thr2442=) c.7305T>G (p.Thr2435=) c.6960T>G (p.Thr2320=) c.3306T>G (p.Thr1102=) c.7200T>G (p.Thr2400=) c.7191T>G (p.Thr2397=) c.7206T>G (p.Thr2402=) c.1503T>G (p.Thr501=) | |
X | g.31774173A>G | CA515859427 | DMD | c.2175T>C (p.Thr725=) c.-52T>C (n.-52T>C) n.990T>C n.912T>C n.821T>C c.7329T>C (p.Thr2443=) c.3297T>C (p.Thr1099=) c.318T>C (p.Thr106=) c.417T>C (p.Thr139=) c.7317T>C (p.Thr2439=) c.86T>C (p.Leu29Pro) c.7314T>C (p.Thr2438=) c.7326T>C (p.Thr2442=) c.7305T>C (p.Thr2435=) c.6960T>C (p.Thr2320=) c.3306T>C (p.Thr1102=) c.7200T>C (p.Thr2400=) c.7191T>C (p.Thr2397=) c.7206T>C (p.Thr2402=) c.1503T>C (p.Thr501=) | |
X | g.31774173A>T | CA515859428 | DMD | c.2175T>A (p.Thr725=) c.-52T>A (n.-52T>A) n.990T>A n.912T>A n.821T>A c.7329T>A (p.Thr2443=) c.3297T>A (p.Thr1099=) c.318T>A (p.Thr106=) c.417T>A (p.Thr139=) c.7317T>A (p.Thr2439=) c.86T>A (p.Leu29His) c.7314T>A (p.Thr2438=) c.7326T>A (p.Thr2442=) c.7305T>A (p.Thr2435=) c.6960T>A (p.Thr2320=) c.3306T>A (p.Thr1102=) c.7200T>A (p.Thr2400=) c.7191T>A (p.Thr2397=) c.7206T>A (p.Thr2402=) c.1503T>A (p.Thr501=) | |
X | g.31774174G>A | CA412659163 | DMD | c.2174C>T (p.Thr725Ile) c.-53C>T (n.-53C>T) n.989C>T n.911C>T n.820C>T c.7328C>T (p.Thr2443Ile) c.3296C>T (p.Thr1099Ile) c.317C>T (p.Thr106Ile) c.416C>T (p.Thr139Ile) c.7316C>T (p.Thr2439Ile) c.85C>T (p.Leu29Phe) c.7313C>T (p.Thr2438Ile) c.7325C>T (p.Thr2442Ile) c.7304C>T (p.Thr2435Ile) c.6959C>T (p.Thr2320Ile) c.3305C>T (p.Thr1102Ile) c.7199C>T (p.Thr2400Ile) c.7190C>T (p.Thr2397Ile) c.7205C>T (p.Thr2402Ile) c.1502C>T (p.Thr501Ile) | dbSNP gnomAD v4 |
X | g.31774174G>C | CA412659165 | DMD | c.2174C>G (p.Thr725Ser) c.-53C>G (n.-53C>G) n.989C>G n.911C>G n.820C>G c.7328C>G (p.Thr2443Ser) c.3296C>G (p.Thr1099Ser) c.317C>G (p.Thr106Ser) c.416C>G (p.Thr139Ser) c.7316C>G (p.Thr2439Ser) c.85C>G (p.Leu29Val) c.7313C>G (p.Thr2438Ser) c.7325C>G (p.Thr2442Ser) c.7304C>G (p.Thr2435Ser) c.6959C>G (p.Thr2320Ser) c.3305C>G (p.Thr1102Ser) c.7199C>G (p.Thr2400Ser) c.7190C>G (p.Thr2397Ser) c.7205C>G (p.Thr2402Ser) c.1502C>G (p.Thr501Ser) | |
X | g.31774174G= | CA2422548675 | DMD | c.2174C= (p.Thr725=) c.-53C= (n.-53C=) n.989C= n.911C= n.820C= c.7328C= (p.Thr2443=) c.3296C= (p.Thr1099=) c.317C= (p.Thr106=) c.416C= (p.Thr139=) c.7316C= (p.Thr2439=) c.85C= (p.Leu29=) c.7313C= (p.Thr2438=) c.7325C= (p.Thr2442=) c.7304C= (p.Thr2435=) c.6959C= (p.Thr2320=) c.3305C= (p.Thr1102=) c.7199C= (p.Thr2400=) c.7190C= (p.Thr2397=) c.7205C= (p.Thr2402=) c.1502C= (p.Thr501=) | |
X | g.31774174G>T | CA412659164 | DMD | c.2174C>A (p.Thr725Asn) c.-53C>A (n.-53C>A) n.989C>A n.911C>A n.820C>A c.7328C>A (p.Thr2443Asn) c.3296C>A (p.Thr1099Asn) c.317C>A (p.Thr106Asn) c.416C>A (p.Thr139Asn) c.7316C>A (p.Thr2439Asn) c.85C>A (p.Leu29Ile) c.7313C>A (p.Thr2438Asn) c.7325C>A (p.Thr2442Asn) c.7304C>A (p.Thr2435Asn) c.6959C>A (p.Thr2320Asn) c.3305C>A (p.Thr1102Asn) c.7199C>A (p.Thr2400Asn) c.7190C>A (p.Thr2397Asn) c.7205C>A (p.Thr2402Asn) c.1502C>A (p.Thr501Asn) | COSMIC COSMIC COSMIC COSMIC |
X | g.31774174_31774175del | CA2580100616 | DMD | c.2173_2174del (p.Thr725SerfsTer9) c.-54_-53del (n.-54_-53del) n.988_989del n.910_911del n.819_820del c.7327_7328del (p.Thr2443SerfsTer9) c.3295_3296del (p.Thr1099SerfsTer9) c.316_317del (p.Thr106SerfsTer9) c.415_416del (p.Thr139SerfsTer9) c.7315_7316del (p.Thr2439SerfsTer9) c.84_85del (p.Leu28PhefsTer?) c.7312_7313del (p.Thr2438SerfsTer9) c.7324_7325del (p.Thr2442SerfsTer9) c.7303_7304del (p.Thr2435SerfsTer9) c.6958_6959del (p.Thr2320SerfsTer9) c.3304_3305del (p.Thr1102SerfsTer9) c.7198_7199del (p.Thr2400SerfsTer9) c.7189_7190del (p.Thr2397SerfsTer9) c.7204_7205del (p.Thr2402SerfsTer9) c.1501_1502del (p.Thr501SerfsTer9) | ClinVar |
X | g.31774175T>A | CA412659166 | DMD | c.2173A>T (p.Thr725Ser) c.-54A>T (n.-54A>T) n.988A>T n.910A>T n.819A>T c.7327A>T (p.Thr2443Ser) c.3295A>T (p.Thr1099Ser) c.316A>T (p.Thr106Ser) c.415A>T (p.Thr139Ser) c.7315A>T (p.Thr2439Ser) c.84A>T (p.Leu28Phe) c.7312A>T (p.Thr2438Ser) c.7324A>T (p.Thr2442Ser) c.7303A>T (p.Thr2435Ser) c.6958A>T (p.Thr2320Ser) c.3304A>T (p.Thr1102Ser) c.7198A>T (p.Thr2400Ser) c.7189A>T (p.Thr2397Ser) c.7204A>T (p.Thr2402Ser) c.1501A>T (p.Thr501Ser) | |
X | g.31774175T>C | CA412659167 | DMD | c.2173A>G (p.Thr725Ala) c.-54A>G (n.-54A>G) n.988A>G n.910A>G n.819A>G c.7327A>G (p.Thr2443Ala) c.3295A>G (p.Thr1099Ala) c.316A>G (p.Thr106Ala) c.415A>G (p.Thr139Ala) c.7315A>G (p.Thr2439Ala) c.84A>G (p.Leu28=) c.7312A>G (p.Thr2438Ala) c.7324A>G (p.Thr2442Ala) c.7303A>G (p.Thr2435Ala) c.6958A>G (p.Thr2320Ala) c.3304A>G (p.Thr1102Ala) c.7198A>G (p.Thr2400Ala) c.7189A>G (p.Thr2397Ala) c.7204A>G (p.Thr2402Ala) c.1501A>G (p.Thr501Ala) | |
X | g.31774175T>G | CA10378287 | DMD | c.2173A>C (p.Thr725Pro) c.-54A>C (n.-54A>C) n.988A>C n.910A>C n.819A>C c.7327A>C (p.Thr2443Pro) c.3295A>C (p.Thr1099Pro) c.316A>C (p.Thr106Pro) c.415A>C (p.Thr139Pro) c.7315A>C (p.Thr2439Pro) c.84A>C (p.Leu28Phe) c.7312A>C (p.Thr2438Pro) c.7324A>C (p.Thr2442Pro) c.7303A>C (p.Thr2435Pro) c.6958A>C (p.Thr2320Pro) c.3304A>C (p.Thr1102Pro) c.7198A>C (p.Thr2400Pro) c.7189A>C (p.Thr2397Pro) c.7204A>C (p.Thr2402Pro) c.1501A>C (p.Thr501Pro) | ClinVar dbSNP ExAC |
X | g.31774175T= | CA2422548676 | DMD | c.2173A= (p.Thr725=) c.-54A= (n.-54A=) n.988A= n.910A= n.819A= c.7327A= (p.Thr2443=) c.3295A= (p.Thr1099=) c.316A= (p.Thr106=) c.415A= (p.Thr139=) c.7315A= (p.Thr2439=) c.84A= (p.Leu28=) c.7312A= (p.Thr2438=) c.7324A= (p.Thr2442=) c.7303A= (p.Thr2435=) c.6958A= (p.Thr2320=) c.3304A= (p.Thr1102=) c.7198A= (p.Thr2400=) c.7189A= (p.Thr2397=) c.7204A= (p.Thr2402=) c.1501A= (p.Thr501=) | |
X | g.31774175dup | CA2695232468 | DMD | c.2173dup (p.Thr725AsnfsTer10) c.-54dup (n.-54dup) n.988dup n.910dup n.819dup c.7327dup (p.Thr2443AsnfsTer10) c.3295dup (p.Thr1099AsnfsTer10) c.316dup (p.Thr106AsnfsTer10) c.415dup (p.Thr139AsnfsTer10) c.7315dup (p.Thr2439AsnfsTer10) c.84dup (p.Leu29ThrfsTer?) c.7312dup (p.Thr2438AsnfsTer10) c.7324dup (p.Thr2442AsnfsTer10) c.7303dup (p.Thr2435AsnfsTer10) c.6958dup (p.Thr2320AsnfsTer10) c.3304dup (p.Thr1102AsnfsTer10) c.7198dup (p.Thr2400AsnfsTer10) c.7189dup (p.Thr2397AsnfsTer10) c.7204dup (p.Thr2402AsnfsTer10) c.1501dup (p.Thr501AsnfsTer10) | |
X | g.31774176A= | CA2422548677 | DMD | c.2172T= (p.Val724=) c.-55T= (n.-55T=) n.987T= n.909T= n.818T= c.7326T= (p.Val2442=) c.3294T= (p.Val1098=) c.315T= (p.Val105=) c.414T= (p.Val138=) c.7314T= (p.Val2438=) c.83T= (p.Leu28=) c.7311T= (p.Val2437=) c.7323T= (p.Val2441=) c.7302T= (p.Val2434=) c.6957T= (p.Val2319=) c.3303T= (p.Val1101=) c.7197T= (p.Val2399=) c.7188T= (p.Val2396=) c.7203T= (p.Val2401=) c.1500T= (p.Val500=) | |
X | g.31774176A>C | CA515859429 | DMD | c.2172T>G (p.Val724=) c.-55T>G (n.-55T>G) n.987T>G n.909T>G n.818T>G c.7326T>G (p.Val2442=) c.3294T>G (p.Val1098=) c.315T>G (p.Val105=) c.414T>G (p.Val138=) c.7314T>G (p.Val2438=) c.83T>G (p.Leu28Ter) c.7311T>G (p.Val2437=) c.7323T>G (p.Val2441=) c.7302T>G (p.Val2434=) c.6957T>G (p.Val2319=) c.3303T>G (p.Val1101=) c.7197T>G (p.Val2399=) c.7188T>G (p.Val2396=) c.7203T>G (p.Val2401=) c.1500T>G (p.Val500=) | |
X | g.31774176A>G | CA10378288 | DMD | c.2172T>C (p.Val724=) c.-55T>C (n.-55T>C) n.987T>C n.909T>C n.818T>C c.7326T>C (p.Val2442=) c.3294T>C (p.Val1098=) c.315T>C (p.Val105=) c.414T>C (p.Val138=) c.7314T>C (p.Val2438=) c.83T>C (p.Leu28Ser) c.7311T>C (p.Val2437=) c.7323T>C (p.Val2441=) c.7302T>C (p.Val2434=) c.6957T>C (p.Val2319=) c.3303T>C (p.Val1101=) c.7197T>C (p.Val2399=) c.7188T>C (p.Val2396=) c.7203T>C (p.Val2401=) c.1500T>C (p.Val500=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31774176A>T | CA515859430 | DMD | c.2172T>A (p.Val724=) c.-55T>A (n.-55T>A) n.987T>A n.909T>A n.818T>A c.7326T>A (p.Val2442=) c.3294T>A (p.Val1098=) c.315T>A (p.Val105=) c.414T>A (p.Val138=) c.7314T>A (p.Val2438=) c.83T>A (p.Leu28Ter) c.7311T>A (p.Val2437=) c.7323T>A (p.Val2441=) c.7302T>A (p.Val2434=) c.6957T>A (p.Val2319=) c.3303T>A (p.Val1101=) c.7197T>A (p.Val2399=) c.7188T>A (p.Val2396=) c.7203T>A (p.Val2401=) c.1500T>A (p.Val500=) | |
X | g.31774177A>C | CA412659168 | DMD | c.2171T>G (p.Val724Gly) c.-56T>G (n.-56T>G) n.986T>G n.908T>G n.817T>G c.7325T>G (p.Val2442Gly) c.3293T>G (p.Val1098Gly) c.314T>G (p.Val105Gly) c.413T>G (p.Val138Gly) c.7313T>G (p.Val2438Gly) c.82T>G (p.Leu28Val) c.7310T>G (p.Val2437Gly) c.7322T>G (p.Val2441Gly) c.7301T>G (p.Val2434Gly) c.6956T>G (p.Val2319Gly) c.3302T>G (p.Val1101Gly) c.7196T>G (p.Val2399Gly) c.7187T>G (p.Val2396Gly) c.7202T>G (p.Val2401Gly) c.1499T>G (p.Val500Gly) | |
X | g.31774177A>G | CA412659169 | DMD | c.2171T>C (p.Val724Ala) c.-56T>C (n.-56T>C) n.986T>C n.908T>C n.817T>C c.7325T>C (p.Val2442Ala) c.3293T>C (p.Val1098Ala) c.314T>C (p.Val105Ala) c.413T>C (p.Val138Ala) c.7313T>C (p.Val2438Ala) c.82T>C (p.Leu28=) c.7310T>C (p.Val2437Ala) c.7322T>C (p.Val2441Ala) c.7301T>C (p.Val2434Ala) c.6956T>C (p.Val2319Ala) c.3302T>C (p.Val1101Ala) c.7196T>C (p.Val2399Ala) c.7187T>C (p.Val2396Ala) c.7202T>C (p.Val2401Ala) c.1499T>C (p.Val500Ala) | |
X | g.31774177A>T | CA412659170 | DMD | c.2171T>A (p.Val724Asp) c.-56T>A (n.-56T>A) n.986T>A n.908T>A n.817T>A c.7325T>A (p.Val2442Asp) c.3293T>A (p.Val1098Asp) c.314T>A (p.Val105Asp) c.413T>A (p.Val138Asp) c.7313T>A (p.Val2438Asp) c.82T>A (p.Leu28Ile) c.7310T>A (p.Val2437Asp) c.7322T>A (p.Val2441Asp) c.7301T>A (p.Val2434Asp) c.6956T>A (p.Val2319Asp) c.3302T>A (p.Val1101Asp) c.7196T>A (p.Val2399Asp) c.7187T>A (p.Val2396Asp) c.7202T>A (p.Val2401Asp) c.1499T>A (p.Val500Asp) | |
X | g.31774178C>A | CA412659171 | DMD | c.2170G>T (p.Val724Phe) c.-57G>T (n.-57G>T) n.985G>T n.907G>T n.816G>T c.7324G>T (p.Val2442Phe) c.3292G>T (p.Val1098Phe) c.313G>T (p.Val105Phe) c.412G>T (p.Val138Phe) c.7312G>T (p.Val2438Phe) c.81G>T (p.Leu27=) c.7309G>T (p.Val2437Phe) c.7321G>T (p.Val2441Phe) c.7300G>T (p.Val2434Phe) c.6955G>T (p.Val2319Phe) c.3301G>T (p.Val1101Phe) c.7195G>T (p.Val2399Phe) c.7186G>T (p.Val2396Phe) c.7201G>T (p.Val2401Phe) c.1498G>T (p.Val500Phe) | |
X | g.31774178C= | CA2422548678 | DMD | c.2170G= (p.Val724=) c.-57G= (n.-57G=) n.985G= n.907G= n.816G= c.7324G= (p.Val2442=) c.3292G= (p.Val1098=) c.313G= (p.Val105=) c.412G= (p.Val138=) c.7312G= (p.Val2438=) c.81G= (p.Leu27=) c.7309G= (p.Val2437=) c.7321G= (p.Val2441=) c.7300G= (p.Val2434=) c.6955G= (p.Val2319=) c.3301G= (p.Val1101=) c.7195G= (p.Val2399=) c.7186G= (p.Val2396=) c.7201G= (p.Val2401=) c.1498G= (p.Val500=) | |
X | g.31774178C>G | CA412659172 | DMD | c.2170G>C (p.Val724Leu) c.-57G>C (n.-57G>C) n.985G>C n.907G>C n.816G>C c.7324G>C (p.Val2442Leu) c.3292G>C (p.Val1098Leu) c.313G>C (p.Val105Leu) c.412G>C (p.Val138Leu) c.7312G>C (p.Val2438Leu) c.81G>C (p.Leu27=) c.7309G>C (p.Val2437Leu) c.7321G>C (p.Val2441Leu) c.7300G>C (p.Val2434Leu) c.6955G>C (p.Val2319Leu) c.3301G>C (p.Val1101Leu) c.7195G>C (p.Val2399Leu) c.7186G>C (p.Val2396Leu) c.7201G>C (p.Val2401Leu) c.1498G>C (p.Val500Leu) | |
X | g.31774178C>T | CA412659173 | DMD | c.2170G>A (p.Val724Ile) c.-57G>A (n.-57G>A) n.985G>A n.907G>A n.816G>A c.7324G>A (p.Val2442Ile) c.3292G>A (p.Val1098Ile) c.313G>A (p.Val105Ile) c.412G>A (p.Val138Ile) c.7312G>A (p.Val2438Ile) c.81G>A (p.Leu27=) c.7309G>A (p.Val2437Ile) c.7321G>A (p.Val2441Ile) c.7300G>A (p.Val2434Ile) c.6955G>A (p.Val2319Ile) c.3301G>A (p.Val1101Ile) c.7195G>A (p.Val2399Ile) c.7186G>A (p.Val2396Ile) c.7201G>A (p.Val2401Ile) c.1498G>A (p.Val500Ile) | dbSNP gnomAD v4 |
X | g.31774179A= | CA2422548679 | DMD | c.2169T= (p.Thr723=) c.-58T= (n.-58T=) n.984T= n.906T= n.815T= c.7323T= (p.Thr2441=) c.3291T= (p.Thr1097=) c.312T= (p.Thr104=) c.411T= (p.Thr137=) c.7311T= (p.Thr2437=) c.80T= (p.Leu27=) c.7308T= (p.Thr2436=) c.7320T= (p.Thr2440=) c.7299T= (p.Thr2433=) c.6954T= (p.Thr2318=) c.3300T= (p.Thr1100=) c.7194T= (p.Thr2398=) c.7185T= (p.Thr2395=) c.7200T= (p.Thr2400=) c.1497T= (p.Thr499=) | |
X | g.31774179A>C | CA515859432 | DMD | c.2169T>G (p.Thr723=) c.-58T>G (n.-58T>G) n.984T>G n.906T>G n.815T>G c.7323T>G (p.Thr2441=) c.3291T>G (p.Thr1097=) c.312T>G (p.Thr104=) c.411T>G (p.Thr137=) c.7311T>G (p.Thr2437=) c.80T>G (p.Leu27Arg) c.7308T>G (p.Thr2436=) c.7320T>G (p.Thr2440=) c.7299T>G (p.Thr2433=) c.6954T>G (p.Thr2318=) c.3300T>G (p.Thr1100=) c.7194T>G (p.Thr2398=) c.7185T>G (p.Thr2395=) c.7200T>G (p.Thr2400=) c.1497T>G (p.Thr499=) | |
X | g.31774179A>G | CA222490 | DMD | c.2169T>C (p.Thr723=) c.-58T>C (n.-58T>C) n.984T>C n.906T>C n.815T>C c.7323T>C (p.Thr2441=) c.3291T>C (p.Thr1097=) c.312T>C (p.Thr104=) c.411T>C (p.Thr137=) c.7311T>C (p.Thr2437=) c.80T>C (p.Leu27Pro) c.7308T>C (p.Thr2436=) c.7320T>C (p.Thr2440=) c.7299T>C (p.Thr2433=) c.6954T>C (p.Thr2318=) c.3300T>C (p.Thr1100=) c.7194T>C (p.Thr2398=) c.7185T>C (p.Thr2395=) c.7200T>C (p.Thr2400=) c.1497T>C (p.Thr499=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774179A>T | CA515859431 | DMD | c.2169T>A (p.Thr723=) c.-58T>A (n.-58T>A) n.984T>A n.906T>A n.815T>A c.7323T>A (p.Thr2441=) c.3291T>A (p.Thr1097=) c.312T>A (p.Thr104=) c.411T>A (p.Thr137=) c.7311T>A (p.Thr2437=) c.80T>A (p.Leu27Gln) c.7308T>A (p.Thr2436=) c.7320T>A (p.Thr2440=) c.7299T>A (p.Thr2433=) c.6954T>A (p.Thr2318=) c.3300T>A (p.Thr1100=) c.7194T>A (p.Thr2398=) c.7185T>A (p.Thr2395=) c.7200T>A (p.Thr2400=) c.1497T>A (p.Thr499=) | ClinVar |
X | g.31774180G>A | CA412659176 | DMD | c.2168C>T (p.Thr723Ile) c.-59C>T (n.-59C>T) n.983C>T n.905C>T n.814C>T c.7322C>T (p.Thr2441Ile) c.3290C>T (p.Thr1097Ile) c.311C>T (p.Thr104Ile) c.410C>T (p.Thr137Ile) c.7310C>T (p.Thr2437Ile) c.79C>T (p.Leu27=) c.7307C>T (p.Thr2436Ile) c.7319C>T (p.Thr2440Ile) c.7298C>T (p.Thr2433Ile) c.6953C>T (p.Thr2318Ile) c.3299C>T (p.Thr1100Ile) c.7193C>T (p.Thr2398Ile) c.7184C>T (p.Thr2395Ile) c.7199C>T (p.Thr2400Ile) c.1496C>T (p.Thr499Ile) | |
X | g.31774180G>C | CA412659175 | DMD | c.2168C>G (p.Thr723Ser) c.-59C>G (n.-59C>G) n.983C>G n.905C>G n.814C>G c.7322C>G (p.Thr2441Ser) c.3290C>G (p.Thr1097Ser) c.311C>G (p.Thr104Ser) c.410C>G (p.Thr137Ser) c.7310C>G (p.Thr2437Ser) c.79C>G (p.Leu27Val) c.7307C>G (p.Thr2436Ser) c.7319C>G (p.Thr2440Ser) c.7298C>G (p.Thr2433Ser) c.6953C>G (p.Thr2318Ser) c.3299C>G (p.Thr1100Ser) c.7193C>G (p.Thr2398Ser) c.7184C>G (p.Thr2395Ser) c.7199C>G (p.Thr2400Ser) c.1496C>G (p.Thr499Ser) | |
X | g.31774180G>T | CA412659174 | DMD | c.2168C>A (p.Thr723Asn) c.-59C>A (n.-59C>A) n.983C>A n.905C>A n.814C>A c.7322C>A (p.Thr2441Asn) c.3290C>A (p.Thr1097Asn) c.311C>A (p.Thr104Asn) c.410C>A (p.Thr137Asn) c.7310C>A (p.Thr2437Asn) c.79C>A (p.Leu27Met) c.7307C>A (p.Thr2436Asn) c.7319C>A (p.Thr2440Asn) c.7298C>A (p.Thr2433Asn) c.6953C>A (p.Thr2318Asn) c.3299C>A (p.Thr1100Asn) c.7193C>A (p.Thr2398Asn) c.7184C>A (p.Thr2395Asn) c.7199C>A (p.Thr2400Asn) c.1496C>A (p.Thr499Asn) | |
X | g.31774181T>A | CA412659177 | DMD | c.2167A>T (p.Thr723Ser) c.-60A>T (n.-60A>T) n.982A>T n.904A>T n.813A>T c.7321A>T (p.Thr2441Ser) c.3289A>T (p.Thr1097Ser) c.310A>T (p.Thr104Ser) c.409A>T (p.Thr137Ser) c.7309A>T (p.Thr2437Ser) c.78A>T (p.Arg26Ser) c.7306A>T (p.Thr2436Ser) c.7318A>T (p.Thr2440Ser) c.7297A>T (p.Thr2433Ser) c.6952A>T (p.Thr2318Ser) c.3298A>T (p.Thr1100Ser) c.7192A>T (p.Thr2398Ser) c.7183A>T (p.Thr2395Ser) c.7198A>T (p.Thr2400Ser) c.1495A>T (p.Thr499Ser) | |
X | g.31774181T>C | CA412659178 | DMD | c.2167A>G (p.Thr723Ala) c.-60A>G (n.-60A>G) n.982A>G n.904A>G n.813A>G c.7321A>G (p.Thr2441Ala) c.3289A>G (p.Thr1097Ala) c.310A>G (p.Thr104Ala) c.409A>G (p.Thr137Ala) c.7309A>G (p.Thr2437Ala) c.78A>G (p.Arg26=) c.7306A>G (p.Thr2436Ala) c.7318A>G (p.Thr2440Ala) c.7297A>G (p.Thr2433Ala) c.6952A>G (p.Thr2318Ala) c.3298A>G (p.Thr1100Ala) c.7192A>G (p.Thr2398Ala) c.7183A>G (p.Thr2395Ala) c.7198A>G (p.Thr2400Ala) c.1495A>G (p.Thr499Ala) | |
X | g.31774181T>G | CA10378289 | DMD | c.2167A>C (p.Thr723Pro) c.-60A>C (n.-60A>C) n.982A>C n.904A>C n.813A>C c.7321A>C (p.Thr2441Pro) c.3289A>C (p.Thr1097Pro) c.310A>C (p.Thr104Pro) c.409A>C (p.Thr137Pro) c.7309A>C (p.Thr2437Pro) c.78A>C (p.Arg26Ser) c.7306A>C (p.Thr2436Pro) c.7318A>C (p.Thr2440Pro) c.7297A>C (p.Thr2433Pro) c.6952A>C (p.Thr2318Pro) c.3298A>C (p.Thr1100Pro) c.7192A>C (p.Thr2398Pro) c.7183A>C (p.Thr2395Pro) c.7198A>C (p.Thr2400Pro) c.1495A>C (p.Thr499Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774181T= | CA2422548680 | DMD | c.2167A= (p.Thr723=) c.-60A= (n.-60A=) n.982A= n.904A= n.813A= c.7321A= (p.Thr2441=) c.3289A= (p.Thr1097=) c.310A= (p.Thr104=) c.409A= (p.Thr137=) c.7309A= (p.Thr2437=) c.78A= (p.Arg26=) c.7306A= (p.Thr2436=) c.7318A= (p.Thr2440=) c.7297A= (p.Thr2433=) c.6952A= (p.Thr2318=) c.3298A= (p.Thr1100=) c.7192A= (p.Thr2398=) c.7183A= (p.Thr2395=) c.7198A= (p.Thr2400=) c.1495A= (p.Thr499=) | |
X | g.31774182C>A | CA412659179 | DMD | c.2166G>T (p.Gln722His) c.-61G>T (n.-61G>T) n.981G>T n.903G>T n.812G>T c.7320G>T (p.Gln2440His) c.3288G>T (p.Gln1096His) c.309G>T (p.Gln103His) c.408G>T (p.Gln136His) c.7308G>T (p.Gln2436His) c.77G>T (p.Arg26Ile) c.7305G>T (p.Gln2435His) c.7317G>T (p.Gln2439His) c.7296G>T (p.Gln2432His) c.6951G>T (p.Gln2317His) c.3297G>T (p.Gln1099His) c.7191G>T (p.Gln2397His) c.7182G>T (p.Gln2394His) c.7197G>T (p.Gln2399His) c.1494G>T (p.Gln498His) | |
X | g.31774182C= | CA2422548681 | DMD | c.2166G= (p.Gln722=) c.-61G= (n.-61G=) n.981G= n.903G= n.812G= c.7320G= (p.Gln2440=) c.3288G= (p.Gln1096=) c.309G= (p.Gln103=) c.408G= (p.Gln136=) c.7308G= (p.Gln2436=) c.77G= (p.Arg26=) c.7305G= (p.Gln2435=) c.7317G= (p.Gln2439=) c.7296G= (p.Gln2432=) c.6951G= (p.Gln2317=) c.3297G= (p.Gln1099=) c.7191G= (p.Gln2397=) c.7182G= (p.Gln2394=) c.7197G= (p.Gln2399=) c.1494G= (p.Gln498=) | |
X | g.31774182C>G | CA412659180 | DMD | c.2166G>C (p.Gln722His) c.-61G>C (n.-61G>C) n.981G>C n.903G>C n.812G>C c.7320G>C (p.Gln2440His) c.3288G>C (p.Gln1096His) c.309G>C (p.Gln103His) c.408G>C (p.Gln136His) c.7308G>C (p.Gln2436His) c.77G>C (p.Arg26Thr) c.7305G>C (p.Gln2435His) c.7317G>C (p.Gln2439His) c.7296G>C (p.Gln2432His) c.6951G>C (p.Gln2317His) c.3297G>C (p.Gln1099His) c.7191G>C (p.Gln2397His) c.7182G>C (p.Gln2394His) c.7197G>C (p.Gln2399His) c.1494G>C (p.Gln498His) | |
X | g.31774182C>T | CA515859434 | DMD | c.2166G>A (p.Gln722=) c.-61G>A (n.-61G>A) n.981G>A n.903G>A n.812G>A c.7320G>A (p.Gln2440=) c.3288G>A (p.Gln1096=) c.309G>A (p.Gln103=) c.408G>A (p.Gln136=) c.7308G>A (p.Gln2436=) c.77G>A (p.Arg26Lys) c.7305G>A (p.Gln2435=) c.7317G>A (p.Gln2439=) c.7296G>A (p.Gln2432=) c.6951G>A (p.Gln2317=) c.3297G>A (p.Gln1099=) c.7191G>A (p.Gln2397=) c.7182G>A (p.Gln2394=) c.7197G>A (p.Gln2399=) c.1494G>A (p.Gln498=) | ClinVar dbSNP |
X | g.31774183T>A | CA412659181 | DMD | c.2165A>T (p.Gln722Leu) c.-62A>T (n.-62A>T) n.980A>T n.902A>T n.811A>T c.7319A>T (p.Gln2440Leu) c.3287A>T (p.Gln1096Leu) c.308A>T (p.Gln103Leu) c.407A>T (p.Gln136Leu) c.7307A>T (p.Gln2436Leu) c.76A>T (p.Arg26Ter) c.7304A>T (p.Gln2435Leu) c.7316A>T (p.Gln2439Leu) c.7295A>T (p.Gln2432Leu) c.6950A>T (p.Gln2317Leu) c.3296A>T (p.Gln1099Leu) c.7190A>T (p.Gln2397Leu) c.7181A>T (p.Gln2394Leu) c.7196A>T (p.Gln2399Leu) c.1493A>T (p.Gln498Leu) | |
X | g.31774183T>C | CA412659182 | DMD | c.2165A>G (p.Gln722Arg) c.-62A>G (n.-62A>G) n.980A>G n.902A>G n.811A>G c.7319A>G (p.Gln2440Arg) c.3287A>G (p.Gln1096Arg) c.308A>G (p.Gln103Arg) c.407A>G (p.Gln136Arg) c.7307A>G (p.Gln2436Arg) c.76A>G (p.Arg26Gly) c.7304A>G (p.Gln2435Arg) c.7316A>G (p.Gln2439Arg) c.7295A>G (p.Gln2432Arg) c.6950A>G (p.Gln2317Arg) c.3296A>G (p.Gln1099Arg) c.7190A>G (p.Gln2397Arg) c.7181A>G (p.Gln2394Arg) c.7196A>G (p.Gln2399Arg) c.1493A>G (p.Gln498Arg) | gnomAD v4 |
X | g.31774183T>G | CA412659183 | DMD | c.2165A>C (p.Gln722Pro) c.-62A>C (n.-62A>C) n.980A>C n.902A>C n.811A>C c.7319A>C (p.Gln2440Pro) c.3287A>C (p.Gln1096Pro) c.308A>C (p.Gln103Pro) c.407A>C (p.Gln136Pro) c.7307A>C (p.Gln2436Pro) c.76A>C (p.Arg26=) c.7304A>C (p.Gln2435Pro) c.7316A>C (p.Gln2439Pro) c.7295A>C (p.Gln2432Pro) c.6950A>C (p.Gln2317Pro) c.3296A>C (p.Gln1099Pro) c.7190A>C (p.Gln2397Pro) c.7181A>C (p.Gln2394Pro) c.7196A>C (p.Gln2399Pro) c.1493A>C (p.Gln498Pro) | |
X | g.31774183dup | CA658799657 | DMD | c.2165dup (p.Thr723AspfsTer12) c.-62dup (n.-62dup) n.980dup n.902dup n.811dup c.7319dup (p.Thr2441AspfsTer12) c.3287dup (p.Thr1097AspfsTer12) c.308dup (p.Thr104AspfsTer12) c.407dup (p.Thr137AspfsTer12) c.7307dup (p.Thr2437AspfsTer12) c.76dup (p.Arg26LysfsTer?) c.7304dup (p.Thr2436AspfsTer12) c.7316dup (p.Thr2440AspfsTer12) c.7295dup (p.Thr2433AspfsTer12) c.6950dup (p.Thr2318AspfsTer12) c.3296dup (p.Thr1100AspfsTer12) c.7190dup (p.Thr2398AspfsTer12) c.7181dup (p.Thr2395AspfsTer12) c.7196dup (p.Thr2400AspfsTer12) c.1493dup (p.Thr499AspfsTer12) | ClinVar dbSNP |
X | g.31774184G>A | CA412659184 | DMD | c.2164C>T (p.Gln722Ter) c.-63C>T (n.-63C>T) n.979C>T n.901C>T n.810C>T c.7318C>T (p.Gln2440Ter) c.3286C>T (p.Gln1096Ter) c.307C>T (p.Gln103Ter) c.406C>T (p.Gln136Ter) c.7306C>T (p.Gln2436Ter) c.75C>T (p.Leu25=) c.7303C>T (p.Gln2435Ter) c.7315C>T (p.Gln2439Ter) c.7294C>T (p.Gln2432Ter) c.6949C>T (p.Gln2317Ter) c.3295C>T (p.Gln1099Ter) c.7189C>T (p.Gln2397Ter) c.7180C>T (p.Gln2394Ter) c.7195C>T (p.Gln2399Ter) c.1492C>T (p.Gln498Ter) | dbSNP COSMIC COSMIC COSMIC COSMIC |
X | g.31774184G>C | CA412659185 | DMD | c.2164C>G (p.Gln722Glu) c.-63C>G (n.-63C>G) n.979C>G n.901C>G n.810C>G c.7318C>G (p.Gln2440Glu) c.3286C>G (p.Gln1096Glu) c.307C>G (p.Gln103Glu) c.406C>G (p.Gln136Glu) c.7306C>G (p.Gln2436Glu) c.75C>G (p.Leu25=) c.7303C>G (p.Gln2435Glu) c.7315C>G (p.Gln2439Glu) c.7294C>G (p.Gln2432Glu) c.6949C>G (p.Gln2317Glu) c.3295C>G (p.Gln1099Glu) c.7189C>G (p.Gln2397Glu) c.7180C>G (p.Gln2394Glu) c.7195C>G (p.Gln2399Glu) c.1492C>G (p.Gln498Glu) | |
X | g.31774184G>T | CA412659186 | DMD | c.2164C>A (p.Gln722Lys) c.-63C>A (n.-63C>A) n.979C>A n.901C>A n.810C>A c.7318C>A (p.Gln2440Lys) c.3286C>A (p.Gln1096Lys) c.307C>A (p.Gln103Lys) c.406C>A (p.Gln136Lys) c.7306C>A (p.Gln2436Lys) c.75C>A (p.Leu25=) c.7303C>A (p.Gln2435Lys) c.7315C>A (p.Gln2439Lys) c.7294C>A (p.Gln2432Lys) c.6949C>A (p.Gln2317Lys) c.3295C>A (p.Gln1099Lys) c.7189C>A (p.Gln2397Lys) c.7180C>A (p.Gln2394Lys) c.7195C>A (p.Gln2399Lys) c.1492C>A (p.Gln498Lys) | |
X | g.31774185A>C | CA515859437 | DMD | c.2163T>G (p.Thr721=) c.-64T>G (n.-64T>G) n.978T>G n.900T>G n.809T>G c.7317T>G (p.Thr2439=) c.3285T>G (p.Thr1095=) c.306T>G (p.Thr102=) c.405T>G (p.Thr135=) c.7305T>G (p.Thr2435=) c.74T>G (p.Leu25Arg) c.7302T>G (p.Thr2434=) c.7314T>G (p.Thr2438=) c.7293T>G (p.Thr2431=) c.6948T>G (p.Thr2316=) c.3294T>G (p.Thr1098=) c.7188T>G (p.Thr2396=) c.7179T>G (p.Thr2393=) c.7194T>G (p.Thr2398=) c.1491T>G (p.Thr497=) | |
X | g.31774185A>G | CA515859439 | DMD | c.2163T>C (p.Thr721=) c.-64T>C (n.-64T>C) n.978T>C n.900T>C n.809T>C c.7317T>C (p.Thr2439=) c.3285T>C (p.Thr1095=) c.306T>C (p.Thr102=) c.405T>C (p.Thr135=) c.7305T>C (p.Thr2435=) c.74T>C (p.Leu25Pro) c.7302T>C (p.Thr2434=) c.7314T>C (p.Thr2438=) c.7293T>C (p.Thr2431=) c.6948T>C (p.Thr2316=) c.3294T>C (p.Thr1098=) c.7188T>C (p.Thr2396=) c.7179T>C (p.Thr2393=) c.7194T>C (p.Thr2398=) c.1491T>C (p.Thr497=) | |
X | g.31774185A>T | CA515859438 | DMD | c.2163T>A (p.Thr721=) c.-64T>A (n.-64T>A) n.978T>A n.900T>A n.809T>A c.7317T>A (p.Thr2439=) c.3285T>A (p.Thr1095=) c.306T>A (p.Thr102=) c.405T>A (p.Thr135=) c.7305T>A (p.Thr2435=) c.74T>A (p.Leu25His) c.7302T>A (p.Thr2434=) c.7314T>A (p.Thr2438=) c.7293T>A (p.Thr2431=) c.6948T>A (p.Thr2316=) c.3294T>A (p.Thr1098=) c.7188T>A (p.Thr2396=) c.7179T>A (p.Thr2393=) c.7194T>A (p.Thr2398=) c.1491T>A (p.Thr497=) | |
X | g.31774186G>A | CA328470496 | DMD | c.2162C>T (p.Thr721Ile) c.-65C>T (n.-65C>T) n.977C>T n.899C>T n.808C>T c.7316C>T (p.Thr2439Ile) c.3284C>T (p.Thr1095Ile) c.305C>T (p.Thr102Ile) c.404C>T (p.Thr135Ile) c.7304C>T (p.Thr2435Ile) c.73C>T (p.Leu25Phe) c.7301C>T (p.Thr2434Ile) c.7313C>T (p.Thr2438Ile) c.7292C>T (p.Thr2431Ile) c.6947C>T (p.Thr2316Ile) c.3293C>T (p.Thr1098Ile) c.7187C>T (p.Thr2396Ile) c.7178C>T (p.Thr2393Ile) c.7193C>T (p.Thr2398Ile) c.1490C>T (p.Thr497Ile) | dbSNP gnomAD v3 gnomAD v4 |
X | g.31774186G>C | CA412659187 | DMD | c.2162C>G (p.Thr721Ser) c.-65C>G (n.-65C>G) n.977C>G n.899C>G n.808C>G c.7316C>G (p.Thr2439Ser) c.3284C>G (p.Thr1095Ser) c.305C>G (p.Thr102Ser) c.404C>G (p.Thr135Ser) c.7304C>G (p.Thr2435Ser) c.73C>G (p.Leu25Val) c.7301C>G (p.Thr2434Ser) c.7313C>G (p.Thr2438Ser) c.7292C>G (p.Thr2431Ser) c.6947C>G (p.Thr2316Ser) c.3293C>G (p.Thr1098Ser) c.7187C>G (p.Thr2396Ser) c.7178C>G (p.Thr2393Ser) c.7193C>G (p.Thr2398Ser) c.1490C>G (p.Thr497Ser) | |
X | g.31774186G= | CA2422548682 | DMD | c.2162C= (p.Thr721=) c.-65C= (n.-65C=) n.977C= n.899C= n.808C= c.7316C= (p.Thr2439=) c.3284C= (p.Thr1095=) c.305C= (p.Thr102=) c.404C= (p.Thr135=) c.7304C= (p.Thr2435=) c.73C= (p.Leu25=) c.7301C= (p.Thr2434=) c.7313C= (p.Thr2438=) c.7292C= (p.Thr2431=) c.6947C= (p.Thr2316=) c.3293C= (p.Thr1098=) c.7187C= (p.Thr2396=) c.7178C= (p.Thr2393=) c.7193C= (p.Thr2398=) c.1490C= (p.Thr497=) | |
X | g.31774186G>T | CA412659188 | DMD | c.2162C>A (p.Thr721Asn) c.-65C>A (n.-65C>A) n.977C>A n.899C>A n.808C>A c.7316C>A (p.Thr2439Asn) c.3284C>A (p.Thr1095Asn) c.305C>A (p.Thr102Asn) c.404C>A (p.Thr135Asn) c.7304C>A (p.Thr2435Asn) c.73C>A (p.Leu25Ile) c.7301C>A (p.Thr2434Asn) c.7313C>A (p.Thr2438Asn) c.7292C>A (p.Thr2431Asn) c.6947C>A (p.Thr2316Asn) c.3293C>A (p.Thr1098Asn) c.7187C>A (p.Thr2396Asn) c.7178C>A (p.Thr2393Asn) c.7193C>A (p.Thr2398Asn) c.1490C>A (p.Thr497Asn) | |
X | g.31774187T>A | CA412659191 | DMD | c.2161A>T (p.Thr721Ser) c.-66A>T (n.-66A>T) n.976A>T n.898A>T n.807A>T c.7315A>T (p.Thr2439Ser) c.3283A>T (p.Thr1095Ser) c.304A>T (p.Thr102Ser) c.403A>T (p.Thr135Ser) c.7303A>T (p.Thr2435Ser) c.72A>T (p.Leu24=) c.7300A>T (p.Thr2434Ser) c.7312A>T (p.Thr2438Ser) c.7291A>T (p.Thr2431Ser) c.6946A>T (p.Thr2316Ser) c.3292A>T (p.Thr1098Ser) c.7186A>T (p.Thr2396Ser) c.7177A>T (p.Thr2393Ser) c.7192A>T (p.Thr2398Ser) c.1489A>T (p.Thr497Ser) | |
X | g.31774187T>C | CA412659190 | DMD | c.2161A>G (p.Thr721Ala) c.-66A>G (n.-66A>G) n.976A>G n.898A>G n.807A>G c.7315A>G (p.Thr2439Ala) c.3283A>G (p.Thr1095Ala) c.304A>G (p.Thr102Ala) c.403A>G (p.Thr135Ala) c.7303A>G (p.Thr2435Ala) c.72A>G (p.Leu24=) c.7300A>G (p.Thr2434Ala) c.7312A>G (p.Thr2438Ala) c.7291A>G (p.Thr2431Ala) c.6946A>G (p.Thr2316Ala) c.3292A>G (p.Thr1098Ala) c.7186A>G (p.Thr2396Ala) c.7177A>G (p.Thr2393Ala) c.7192A>G (p.Thr2398Ala) c.1489A>G (p.Thr497Ala) | |
X | g.31774187T>G | CA412659189 | DMD | c.2161A>C (p.Thr721Pro) c.-66A>C (n.-66A>C) n.976A>C n.898A>C n.807A>C c.7315A>C (p.Thr2439Pro) c.3283A>C (p.Thr1095Pro) c.304A>C (p.Thr102Pro) c.403A>C (p.Thr135Pro) c.7303A>C (p.Thr2435Pro) c.72A>C (p.Leu24=) c.7300A>C (p.Thr2434Pro) c.7312A>C (p.Thr2438Pro) c.7291A>C (p.Thr2431Pro) c.6946A>C (p.Thr2316Pro) c.3292A>C (p.Thr1098Pro) c.7186A>C (p.Thr2396Pro) c.7177A>C (p.Thr2393Pro) c.7192A>C (p.Thr2398Pro) c.1489A>C (p.Thr497Pro) | |
X | g.31774188A= | CA2422548683 | DMD | c.2160T= (p.Pro720=) c.-67T= (n.-67T=) n.975T= n.897T= n.806T= c.7314T= (p.Pro2438=) c.3282T= (p.Pro1094=) c.303T= (p.Pro101=) c.402T= (p.Pro134=) c.7302T= (p.Pro2434=) c.71T= (p.Leu24=) c.7299T= (p.Pro2433=) c.7311T= (p.Pro2437=) c.7290T= (p.Pro2430=) c.6945T= (p.Pro2315=) c.3291T= (p.Pro1097=) c.7185T= (p.Pro2395=) c.7176T= (p.Pro2392=) c.7191T= (p.Pro2397=) c.1488T= (p.Pro496=) | |
X | g.31774188A>C | CA515859440 | DMD | c.2160T>G (p.Pro720=) c.-67T>G (n.-67T>G) n.975T>G n.897T>G n.806T>G c.7314T>G (p.Pro2438=) c.3282T>G (p.Pro1094=) c.303T>G (p.Pro101=) c.402T>G (p.Pro134=) c.7302T>G (p.Pro2434=) c.71T>G (p.Leu24Arg) c.7299T>G (p.Pro2433=) c.7311T>G (p.Pro2437=) c.7290T>G (p.Pro2430=) c.6945T>G (p.Pro2315=) c.3291T>G (p.Pro1097=) c.7185T>G (p.Pro2395=) c.7176T>G (p.Pro2392=) c.7191T>G (p.Pro2397=) c.1488T>G (p.Pro496=) | ClinVar dbSNP |
X | g.31774188A>G | CA515859441 | DMD | c.2160T>C (p.Pro720=) c.-67T>C (n.-67T>C) n.975T>C n.897T>C n.806T>C c.7314T>C (p.Pro2438=) c.3282T>C (p.Pro1094=) c.303T>C (p.Pro101=) c.402T>C (p.Pro134=) c.7302T>C (p.Pro2434=) c.71T>C (p.Leu24Pro) c.7299T>C (p.Pro2433=) c.7311T>C (p.Pro2437=) c.7290T>C (p.Pro2430=) c.6945T>C (p.Pro2315=) c.3291T>C (p.Pro1097=) c.7185T>C (p.Pro2395=) c.7176T>C (p.Pro2392=) c.7191T>C (p.Pro2397=) c.1488T>C (p.Pro496=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.31774188A>T | CA515859442 | DMD | c.2160T>A (p.Pro720=) c.-67T>A (n.-67T>A) n.975T>A n.897T>A n.806T>A c.7314T>A (p.Pro2438=) c.3282T>A (p.Pro1094=) c.303T>A (p.Pro101=) c.402T>A (p.Pro134=) c.7302T>A (p.Pro2434=) c.71T>A (p.Leu24Gln) c.7299T>A (p.Pro2433=) c.7311T>A (p.Pro2437=) c.7290T>A (p.Pro2430=) c.6945T>A (p.Pro2315=) c.3291T>A (p.Pro1097=) c.7185T>A (p.Pro2395=) c.7176T>A (p.Pro2392=) c.7191T>A (p.Pro2397=) c.1488T>A (p.Pro496=) | |
X | g.31774189G>A | CA412659192 | DMD | c.2159C>T (p.Pro720Leu) c.-68C>T (n.-68C>T) n.974C>T n.896C>T n.805C>T c.7313C>T (p.Pro2438Leu) c.3281C>T (p.Pro1094Leu) c.302C>T (p.Pro101Leu) c.401C>T (p.Pro134Leu) c.7301C>T (p.Pro2434Leu) c.70C>T (p.Leu24=) c.7298C>T (p.Pro2433Leu) c.7310C>T (p.Pro2437Leu) c.7289C>T (p.Pro2430Leu) c.6944C>T (p.Pro2315Leu) c.3290C>T (p.Pro1097Leu) c.7184C>T (p.Pro2395Leu) c.7175C>T (p.Pro2392Leu) c.7190C>T (p.Pro2397Leu) c.1487C>T (p.Pro496Leu) | |
X | g.31774189G>C | CA412659193 | DMD | c.2159C>G (p.Pro720Arg) c.-68C>G (n.-68C>G) n.974C>G n.896C>G n.805C>G c.7313C>G (p.Pro2438Arg) c.3281C>G (p.Pro1094Arg) c.302C>G (p.Pro101Arg) c.401C>G (p.Pro134Arg) c.7301C>G (p.Pro2434Arg) c.70C>G (p.Leu24Val) c.7298C>G (p.Pro2433Arg) c.7310C>G (p.Pro2437Arg) c.7289C>G (p.Pro2430Arg) c.6944C>G (p.Pro2315Arg) c.3290C>G (p.Pro1097Arg) c.7184C>G (p.Pro2395Arg) c.7175C>G (p.Pro2392Arg) c.7190C>G (p.Pro2397Arg) c.1487C>G (p.Pro496Arg) | |
X | g.31774189G>T | CA412659194 | DMD | c.2159C>A (p.Pro720His) c.-68C>A (n.-68C>A) n.974C>A n.896C>A n.805C>A c.7313C>A (p.Pro2438His) c.3281C>A (p.Pro1094His) c.302C>A (p.Pro101His) c.401C>A (p.Pro134His) c.7301C>A (p.Pro2434His) c.70C>A (p.Leu24Ile) c.7298C>A (p.Pro2433His) c.7310C>A (p.Pro2437His) c.7289C>A (p.Pro2430His) c.6944C>A (p.Pro2315His) c.3290C>A (p.Pro1097His) c.7184C>A (p.Pro2395His) c.7175C>A (p.Pro2392His) c.7190C>A (p.Pro2397His) c.1487C>A (p.Pro496His) | |
X | g.31774190G>A | CA412659195 | DMD | c.2158C>T (p.Pro720Ser) c.-69C>T (n.-69C>T) n.973C>T n.895C>T n.804C>T c.7312C>T (p.Pro2438Ser) c.3280C>T (p.Pro1094Ser) c.301C>T (p.Pro101Ser) c.400C>T (p.Pro134Ser) c.7300C>T (p.Pro2434Ser) c.69C>T (p.Leu23=) c.7297C>T (p.Pro2433Ser) c.7309C>T (p.Pro2437Ser) c.7288C>T (p.Pro2430Ser) c.6943C>T (p.Pro2315Ser) c.3289C>T (p.Pro1097Ser) c.7183C>T (p.Pro2395Ser) c.7174C>T (p.Pro2392Ser) c.7189C>T (p.Pro2397Ser) c.1486C>T (p.Pro496Ser) | |
X | g.31774190G>C | CA412659196 | DMD | c.2158C>G (p.Pro720Ala) c.-69C>G (n.-69C>G) n.973C>G n.895C>G n.804C>G c.7312C>G (p.Pro2438Ala) c.3280C>G (p.Pro1094Ala) c.301C>G (p.Pro101Ala) c.400C>G (p.Pro134Ala) c.7300C>G (p.Pro2434Ala) c.69C>G (p.Leu23=) c.7297C>G (p.Pro2433Ala) c.7309C>G (p.Pro2437Ala) c.7288C>G (p.Pro2430Ala) c.6943C>G (p.Pro2315Ala) c.3289C>G (p.Pro1097Ala) c.7183C>G (p.Pro2395Ala) c.7174C>G (p.Pro2392Ala) c.7189C>G (p.Pro2397Ala) c.1486C>G (p.Pro496Ala) | gnomAD v4 |
X | g.31774190G>T | CA412659197 | DMD | c.2158C>A (p.Pro720Thr) c.-69C>A (n.-69C>A) n.973C>A n.895C>A n.804C>A c.7312C>A (p.Pro2438Thr) c.3280C>A (p.Pro1094Thr) c.301C>A (p.Pro101Thr) c.400C>A (p.Pro134Thr) c.7300C>A (p.Pro2434Thr) c.69C>A (p.Leu23=) c.7297C>A (p.Pro2433Thr) c.7309C>A (p.Pro2437Thr) c.7288C>A (p.Pro2430Thr) c.6943C>A (p.Pro2315Thr) c.3289C>A (p.Pro1097Thr) c.7183C>A (p.Pro2395Thr) c.7174C>A (p.Pro2392Thr) c.7189C>A (p.Pro2397Thr) c.1486C>A (p.Pro496Thr) | |
X | g.31774191A>C | CA515859443 | DMD | c.2157T>G (p.Ser719=) c.-70T>G (n.-70T>G) n.972T>G n.894T>G n.803T>G c.7311T>G (p.Ser2437=) c.3279T>G (p.Ser1093=) c.300T>G (p.Ser100=) c.399T>G (p.Ser133=) c.7299T>G (p.Ser2433=) c.68T>G (p.Leu23Arg) c.7296T>G (p.Ser2432=) c.7308T>G (p.Ser2436=) c.7287T>G (p.Ser2429=) c.6942T>G (p.Ser2314=) c.3288T>G (p.Ser1096=) c.7182T>G (p.Ser2394=) c.7173T>G (p.Ser2391=) c.7188T>G (p.Ser2396=) c.1485T>G (p.Ser495=) | |
X | g.31774191A>G | CA515859444 | DMD | c.2157T>C (p.Ser719=) c.-70T>C (n.-70T>C) n.972T>C n.894T>C n.803T>C c.7311T>C (p.Ser2437=) c.3279T>C (p.Ser1093=) c.300T>C (p.Ser100=) c.399T>C (p.Ser133=) c.7299T>C (p.Ser2433=) c.68T>C (p.Leu23Pro) c.7296T>C (p.Ser2432=) c.7308T>C (p.Ser2436=) c.7287T>C (p.Ser2429=) c.6942T>C (p.Ser2314=) c.3288T>C (p.Ser1096=) c.7182T>C (p.Ser2394=) c.7173T>C (p.Ser2391=) c.7188T>C (p.Ser2396=) c.1485T>C (p.Ser495=) | gnomAD v4 |
X | g.31774191A>T | CA515859445 | DMD | c.2157T>A (p.Ser719=) c.-70T>A (n.-70T>A) n.972T>A n.894T>A n.803T>A c.7311T>A (p.Ser2437=) c.3279T>A (p.Ser1093=) c.300T>A (p.Ser100=) c.399T>A (p.Ser133=) c.7299T>A (p.Ser2433=) c.68T>A (p.Leu23His) c.7296T>A (p.Ser2432=) c.7308T>A (p.Ser2436=) c.7287T>A (p.Ser2429=) c.6942T>A (p.Ser2314=) c.3288T>A (p.Ser1096=) c.7182T>A (p.Ser2394=) c.7173T>A (p.Ser2391=) c.7188T>A (p.Ser2396=) c.1485T>A (p.Ser495=) | |
X | g.31774192G>A | CA412659198 | DMD | c.2156C>T (p.Ser719Phe) c.-71C>T (n.-71C>T) n.971C>T n.893C>T n.802C>T c.7310C>T (p.Ser2437Phe) c.3278C>T (p.Ser1093Phe) c.299C>T (p.Ser100Phe) c.398C>T (p.Ser133Phe) c.7298C>T (p.Ser2433Phe) c.67C>T (p.Leu23Phe) c.7295C>T (p.Ser2432Phe) c.7307C>T (p.Ser2436Phe) c.7286C>T (p.Ser2429Phe) c.6941C>T (p.Ser2314Phe) c.3287C>T (p.Ser1096Phe) c.7181C>T (p.Ser2394Phe) c.7172C>T (p.Ser2391Phe) c.7187C>T (p.Ser2396Phe) c.1484C>T (p.Ser495Phe) | |
X | g.31774192G>C | CA412659199 | DMD | c.2156C>G (p.Ser719Cys) c.-71C>G (n.-71C>G) n.971C>G n.893C>G n.802C>G c.7310C>G (p.Ser2437Cys) c.3278C>G (p.Ser1093Cys) c.299C>G (p.Ser100Cys) c.398C>G (p.Ser133Cys) c.7298C>G (p.Ser2433Cys) c.67C>G (p.Leu23Val) c.7295C>G (p.Ser2432Cys) c.7307C>G (p.Ser2436Cys) c.7286C>G (p.Ser2429Cys) c.6941C>G (p.Ser2314Cys) c.3287C>G (p.Ser1096Cys) c.7181C>G (p.Ser2394Cys) c.7172C>G (p.Ser2391Cys) c.7187C>G (p.Ser2396Cys) c.1484C>G (p.Ser495Cys) | |
X | g.31774192G>T | CA412659200 | DMD | c.2156C>A (p.Ser719Tyr) c.-71C>A (n.-71C>A) n.971C>A n.893C>A n.802C>A c.7310C>A (p.Ser2437Tyr) c.3278C>A (p.Ser1093Tyr) c.299C>A (p.Ser100Tyr) c.398C>A (p.Ser133Tyr) c.7298C>A (p.Ser2433Tyr) c.67C>A (p.Leu23Ile) c.7295C>A (p.Ser2432Tyr) c.7307C>A (p.Ser2436Tyr) c.7286C>A (p.Ser2429Tyr) c.6941C>A (p.Ser2314Tyr) c.3287C>A (p.Ser1096Tyr) c.7181C>A (p.Ser2394Tyr) c.7172C>A (p.Ser2391Tyr) c.7187C>A (p.Ser2396Tyr) c.1484C>A (p.Ser495Tyr) | |
X | g.31774193C>A | CA412659201 | DMD | c.2156-1G>T (n.2156-1G>T) c.-71-1G>T (n.-71-1G>T) n.971-1G>T n.893-1G>T n.802-1G>T c.7310-1G>T (n.7310-1G>T) c.3278-1G>T (n.3278-1G>T) c.299-1G>T (n.299-1G>T) c.398-1G>T (n.398-1G>T) c.7298-1G>T (n.7298-1G>T) c.67-1G>T (n.67-1G>T) c.7295-1G>T (n.7295-1G>T) c.7307-1G>T (n.7307-1G>T) c.7286-1G>T (n.7286-1G>T) c.6941-1G>T (n.6941-1G>T) c.3287-1G>T (n.3287-1G>T) c.7181-1G>T (n.7181-1G>T) c.7172-1G>T (n.7172-1G>T) c.7187-1G>T (n.7187-1G>T) c.1484-1G>T (n.1484-1G>T) | |
X | g.31774193C= | CA2422548684 | DMD | c.2156-1G= (n.2156-1G=) c.-71-1G= (n.-71-1G=) n.971-1G= n.893-1G= n.802-1G= c.7310-1G= (n.7310-1G=) c.3278-1G= (n.3278-1G=) c.299-1G= (n.299-1G=) c.398-1G= (n.398-1G=) c.7298-1G= (n.7298-1G=) c.67-1G= (n.67-1G=) c.7295-1G= (n.7295-1G=) c.7307-1G= (n.7307-1G=) c.7286-1G= (n.7286-1G=) c.6941-1G= (n.6941-1G=) c.3287-1G= (n.3287-1G=) c.7181-1G= (n.7181-1G=) c.7172-1G= (n.7172-1G=) c.7187-1G= (n.7187-1G=) c.1484-1G= (n.1484-1G=) | |
X | g.31774193C>G | CA412659202 | DMD | c.2156-1G>C (n.2156-1G>C) c.-71-1G>C (n.-71-1G>C) n.971-1G>C n.893-1G>C n.802-1G>C c.7310-1G>C (n.7310-1G>C) c.3278-1G>C (n.3278-1G>C) c.299-1G>C (n.299-1G>C) c.398-1G>C (n.398-1G>C) c.7298-1G>C (n.7298-1G>C) c.67-1G>C (n.67-1G>C) c.7295-1G>C (n.7295-1G>C) c.7307-1G>C (n.7307-1G>C) c.7286-1G>C (n.7286-1G>C) c.6941-1G>C (n.6941-1G>C) c.3287-1G>C (n.3287-1G>C) c.7181-1G>C (n.7181-1G>C) c.7172-1G>C (n.7172-1G>C) c.7187-1G>C (n.7187-1G>C) c.1484-1G>C (n.1484-1G>C) | |
X | g.31774193C>T | CA412659203 | DMD | c.2156-1G>A (n.2156-1G>A) c.-71-1G>A (n.-71-1G>A) n.971-1G>A n.893-1G>A n.802-1G>A c.7310-1G>A (n.7310-1G>A) c.3278-1G>A (n.3278-1G>A) c.299-1G>A (n.299-1G>A) c.398-1G>A (n.398-1G>A) c.7298-1G>A (n.7298-1G>A) c.67-1G>A (n.67-1G>A) c.7295-1G>A (n.7295-1G>A) c.7307-1G>A (n.7307-1G>A) c.7286-1G>A (n.7286-1G>A) c.6941-1G>A (n.6941-1G>A) c.3287-1G>A (n.3287-1G>A) c.7181-1G>A (n.7181-1G>A) c.7172-1G>A (n.7172-1G>A) c.7187-1G>A (n.7187-1G>A) c.1484-1G>A (n.1484-1G>A) | ClinVar dbSNP |
X | g.31774194T>A | CA412659206 | DMD | c.2156-2A>T (n.2156-2A>T) c.-71-2A>T (n.-71-2A>T) n.971-2A>T n.893-2A>T n.802-2A>T c.7310-2A>T (n.7310-2A>T) c.3278-2A>T (n.3278-2A>T) c.299-2A>T (n.299-2A>T) c.398-2A>T (n.398-2A>T) c.7298-2A>T (n.7298-2A>T) c.67-2A>T (n.67-2A>T) c.7295-2A>T (n.7295-2A>T) c.7307-2A>T (n.7307-2A>T) c.7286-2A>T (n.7286-2A>T) c.6941-2A>T (n.6941-2A>T) c.3287-2A>T (n.3287-2A>T) c.7181-2A>T (n.7181-2A>T) c.7172-2A>T (n.7172-2A>T) c.7187-2A>T (n.7187-2A>T) c.1484-2A>T (n.1484-2A>T) | |
X | g.31774194T>C | CA412659205 | DMD | c.2156-2A>G (n.2156-2A>G) c.-71-2A>G (n.-71-2A>G) n.971-2A>G n.893-2A>G n.802-2A>G c.7310-2A>G (n.7310-2A>G) c.3278-2A>G (n.3278-2A>G) c.299-2A>G (n.299-2A>G) c.398-2A>G (n.398-2A>G) c.7298-2A>G (n.7298-2A>G) c.67-2A>G (n.67-2A>G) c.7295-2A>G (n.7295-2A>G) c.7307-2A>G (n.7307-2A>G) c.7286-2A>G (n.7286-2A>G) c.6941-2A>G (n.6941-2A>G) c.3287-2A>G (n.3287-2A>G) c.7181-2A>G (n.7181-2A>G) c.7172-2A>G (n.7172-2A>G) c.7187-2A>G (n.7187-2A>G) c.1484-2A>G (n.1484-2A>G) | ClinVar |
X | g.31774194T>G | CA412659204 | DMD | c.2156-2A>C (n.2156-2A>C) c.-71-2A>C (n.-71-2A>C) n.971-2A>C n.893-2A>C n.802-2A>C c.7310-2A>C (n.7310-2A>C) c.3278-2A>C (n.3278-2A>C) c.299-2A>C (n.299-2A>C) c.398-2A>C (n.398-2A>C) c.7298-2A>C (n.7298-2A>C) c.67-2A>C (n.67-2A>C) c.7295-2A>C (n.7295-2A>C) c.7307-2A>C (n.7307-2A>C) c.7286-2A>C (n.7286-2A>C) c.6941-2A>C (n.6941-2A>C) c.3287-2A>C (n.3287-2A>C) c.7181-2A>C (n.7181-2A>C) c.7172-2A>C (n.7172-2A>C) c.7187-2A>C (n.7187-2A>C) c.1484-2A>C (n.1484-2A>C) | |
X | g.31774195A>G | CA2693390352 | DMD | c.2156-3T>C (n.2156-3T>C) c.-71-3T>C (n.-71-3T>C) n.971-3T>C n.893-3T>C n.802-3T>C c.7310-3T>C (n.7310-3T>C) c.3278-3T>C (n.3278-3T>C) c.299-3T>C (n.299-3T>C) c.398-3T>C (n.398-3T>C) c.7298-3T>C (n.7298-3T>C) c.67-3T>C (n.67-3T>C) c.7295-3T>C (n.7295-3T>C) c.7307-3T>C (n.7307-3T>C) c.7286-3T>C (n.7286-3T>C) c.6941-3T>C (n.6941-3T>C) c.3287-3T>C (n.3287-3T>C) c.7181-3T>C (n.7181-3T>C) c.7172-3T>C (n.7172-3T>C) c.7187-3T>C (n.7187-3T>C) c.1484-3T>C (n.1484-3T>C) | gnomAD v4 |
X | g.31774198del | CA2579579136 | DMD | c.2156-3del (n.2156-3del) c.-71-3del (n.-71-3del) n.971-3del n.893-3del n.802-3del c.7310-3del (n.7310-3del) c.3278-3del (n.3278-3del) c.299-3del (n.299-3del) c.398-3del (n.398-3del) c.7298-3del (n.7298-3del) c.67-3del (n.67-3del) c.7295-3del (n.7295-3del) c.7307-3del (n.7307-3del) c.7286-3del (n.7286-3del) c.6941-3del (n.6941-3del) c.3287-3del (n.3287-3del) c.7181-3del (n.7181-3del) c.7172-3del (n.7172-3del) c.7187-3del (n.7187-3del) c.1484-3del (n.1484-3del) | |
X | g.31774196A>C | CA2739268134 | DMD | c.2156-4T>G (n.2156-4T>G) c.-71-4T>G (n.-71-4T>G) n.971-4T>G n.893-4T>G n.802-4T>G c.7310-4T>G (n.7310-4T>G) c.3278-4T>G (n.3278-4T>G) c.299-4T>G (n.299-4T>G) c.398-4T>G (n.398-4T>G) c.7298-4T>G (n.7298-4T>G) c.67-4T>G (n.67-4T>G) c.7295-4T>G (n.7295-4T>G) c.7307-4T>G (n.7307-4T>G) c.7286-4T>G (n.7286-4T>G) c.6941-4T>G (n.6941-4T>G) c.3287-4T>G (n.3287-4T>G) c.7181-4T>G (n.7181-4T>G) c.7172-4T>G (n.7172-4T>G) c.7187-4T>G (n.7187-4T>G) c.1484-4T>G (n.1484-4T>G) | ClinVar |
X | g.31774197A= | CA2422548685 | DMD | c.2156-5T= (n.2156-5T=) c.-71-5T= (n.-71-5T=) n.971-5T= n.893-5T= n.802-5T= c.7310-5T= (n.7310-5T=) c.3278-5T= (n.3278-5T=) c.299-5T= (n.299-5T=) c.398-5T= (n.398-5T=) c.7298-5T= (n.7298-5T=) c.67-5T= (n.67-5T=) c.7295-5T= (n.7295-5T=) c.7307-5T= (n.7307-5T=) c.7286-5T= (n.7286-5T=) c.6941-5T= (n.6941-5T=) c.3287-5T= (n.3287-5T=) c.7181-5T= (n.7181-5T=) c.7172-5T= (n.7172-5T=) c.7187-5T= (n.7187-5T=) c.1484-5T= (n.1484-5T=) | |
X | g.31774197A>C | CA916081253 | DMD | c.2156-5T>G (n.2156-5T>G) c.-71-5T>G (n.-71-5T>G) n.971-5T>G n.893-5T>G n.802-5T>G c.7310-5T>G (n.7310-5T>G) c.3278-5T>G (n.3278-5T>G) c.299-5T>G (n.299-5T>G) c.398-5T>G (n.398-5T>G) c.7298-5T>G (n.7298-5T>G) c.67-5T>G (n.67-5T>G) c.7295-5T>G (n.7295-5T>G) c.7307-5T>G (n.7307-5T>G) c.7286-5T>G (n.7286-5T>G) c.6941-5T>G (n.6941-5T>G) c.3287-5T>G (n.3287-5T>G) c.7181-5T>G (n.7181-5T>G) c.7172-5T>G (n.7172-5T>G) c.7187-5T>G (n.7187-5T>G) c.1484-5T>G (n.1484-5T>G) | ClinVar dbSNP gnomAD v4 |
X | g.31774199T>C | CA10378290 | DMD | c.2156-7A>G (n.2156-7A>G) c.-71-7A>G (n.-71-7A>G) n.971-7A>G n.893-7A>G n.802-7A>G c.7310-7A>G (n.7310-7A>G) c.3278-7A>G (n.3278-7A>G) c.299-7A>G (n.299-7A>G) c.398-7A>G (n.398-7A>G) c.7298-7A>G (n.7298-7A>G) c.67-7A>G (n.67-7A>G) c.7295-7A>G (n.7295-7A>G) c.7307-7A>G (n.7307-7A>G) c.7286-7A>G (n.7286-7A>G) c.6941-7A>G (n.6941-7A>G) c.3287-7A>G (n.3287-7A>G) c.7181-7A>G (n.7181-7A>G) c.7172-7A>G (n.7172-7A>G) c.7187-7A>G (n.7187-7A>G) c.1484-7A>G (n.1484-7A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774199T= | CA2422548686 | DMD | c.2156-7A= (n.2156-7A=) c.-71-7A= (n.-71-7A=) n.971-7A= n.893-7A= n.802-7A= c.7310-7A= (n.7310-7A=) c.3278-7A= (n.3278-7A=) c.299-7A= (n.299-7A=) c.398-7A= (n.398-7A=) c.7298-7A= (n.7298-7A=) c.67-7A= (n.67-7A=) c.7295-7A= (n.7295-7A=) c.7307-7A= (n.7307-7A=) c.7286-7A= (n.7286-7A=) c.6941-7A= (n.6941-7A=) c.3287-7A= (n.3287-7A=) c.7181-7A= (n.7181-7A=) c.7172-7A= (n.7172-7A=) c.7187-7A= (n.7187-7A=) c.1484-7A= (n.1484-7A=) | |
X | g.31774200A>T | CA2697552933 | DMD | c.2156-8T>A (n.2156-8T>A) c.-71-8T>A (n.-71-8T>A) n.971-8T>A n.893-8T>A n.802-8T>A c.7310-8T>A (n.7310-8T>A) c.3278-8T>A (n.3278-8T>A) c.299-8T>A (n.299-8T>A) c.398-8T>A (n.398-8T>A) c.7298-8T>A (n.7298-8T>A) c.67-8T>A (n.67-8T>A) c.7295-8T>A (n.7295-8T>A) c.7307-8T>A (n.7307-8T>A) c.7286-8T>A (n.7286-8T>A) c.6941-8T>A (n.6941-8T>A) c.3287-8T>A (n.3287-8T>A) c.7181-8T>A (n.7181-8T>A) c.7172-8T>A (n.7172-8T>A) c.7187-8T>A (n.7187-8T>A) c.1484-8T>A (n.1484-8T>A) | ClinVar |
X | g.31774204del | CA2579579138 | DMD | c.2156-9del (n.2156-9del) c.-71-9del (n.-71-9del) n.971-9del n.893-9del n.802-9del c.7310-9del (n.7310-9del) c.3278-9del (n.3278-9del) c.299-9del (n.299-9del) c.398-9del (n.398-9del) c.7298-9del (n.7298-9del) c.67-9del (n.67-9del) c.7295-9del (n.7295-9del) c.7307-9del (n.7307-9del) c.7286-9del (n.7286-9del) c.6941-9del (n.6941-9del) c.3287-9del (n.3287-9del) c.7181-9del (n.7181-9del) c.7172-9del (n.7172-9del) c.7187-9del (n.7187-9del) c.1484-9del (n.1484-9del) | |
X | g.31774204T>C | CA874637892 | DMD | c.2156-12A>G (n.2156-12A>G) c.-71-12A>G (n.-71-12A>G) n.971-12A>G n.893-12A>G n.802-12A>G c.7310-12A>G (n.7310-12A>G) c.3278-12A>G (n.3278-12A>G) c.299-12A>G (n.299-12A>G) c.398-12A>G (n.398-12A>G) c.7298-12A>G (n.7298-12A>G) c.67-12A>G (n.67-12A>G) c.7295-12A>G (n.7295-12A>G) c.7307-12A>G (n.7307-12A>G) c.7286-12A>G (n.7286-12A>G) c.6941-12A>G (n.6941-12A>G) c.3287-12A>G (n.3287-12A>G) c.7181-12A>G (n.7181-12A>G) c.7172-12A>G (n.7172-12A>G) c.7187-12A>G (n.7187-12A>G) c.1484-12A>G (n.1484-12A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.31774204T= | CA2422548687 | DMD | c.2156-12A= (n.2156-12A=) c.-71-12A= (n.-71-12A=) n.971-12A= n.893-12A= n.802-12A= c.7310-12A= (n.7310-12A=) c.3278-12A= (n.3278-12A=) c.299-12A= (n.299-12A=) c.398-12A= (n.398-12A=) c.7298-12A= (n.7298-12A=) c.67-12A= (n.67-12A=) c.7295-12A= (n.7295-12A=) c.7307-12A= (n.7307-12A=) c.7286-12A= (n.7286-12A=) c.6941-12A= (n.6941-12A=) c.3287-12A= (n.3287-12A=) c.7181-12A= (n.7181-12A=) c.7172-12A= (n.7172-12A=) c.7187-12A= (n.7187-12A=) c.1484-12A= (n.1484-12A=) | |
X | g.31774204_31774214del | CA1132108716 | DMD | c.2156-22_2156-12del (n.2156-22_2156-12del) c.-71-22_-71-12del (n.-71-22_-71-12del) n.971-22_971-12del n.893-22_893-12del n.802-22_802-12del c.7310-22_7310-12del (n.7310-22_7310-12del) c.3278-22_3278-12del (n.3278-22_3278-12del) c.299-22_299-12del (n.299-22_299-12del) c.398-22_398-12del (n.398-22_398-12del) c.7298-22_7298-12del (n.7298-22_7298-12del) c.67-22_67-12del (n.67-22_67-12del) c.7295-22_7295-12del (n.7295-22_7295-12del) c.7307-22_7307-12del (n.7307-22_7307-12del) c.7286-22_7286-12del (n.7286-22_7286-12del) c.6941-22_6941-12del (n.6941-22_6941-12del) c.3287-22_3287-12del (n.3287-22_3287-12del) c.7181-22_7181-12del (n.7181-22_7181-12del) c.7172-22_7172-12del (n.7172-22_7172-12del) c.7187-22_7187-12del (n.7187-22_7187-12del) c.1484-22_1484-12del (n.1484-22_1484-12del) | |
X | g.31774205G>T | CA2738515704 | DMD | c.2156-13C>A (n.2156-13C>A) c.-71-13C>A (n.-71-13C>A) n.971-13C>A n.893-13C>A n.802-13C>A c.7310-13C>A (n.7310-13C>A) c.3278-13C>A (n.3278-13C>A) c.299-13C>A (n.299-13C>A) c.398-13C>A (n.398-13C>A) c.7298-13C>A (n.7298-13C>A) c.67-13C>A (n.67-13C>A) c.7295-13C>A (n.7295-13C>A) c.7307-13C>A (n.7307-13C>A) c.7286-13C>A (n.7286-13C>A) c.6941-13C>A (n.6941-13C>A) c.3287-13C>A (n.3287-13C>A) c.7181-13C>A (n.7181-13C>A) c.7172-13C>A (n.7172-13C>A) c.7187-13C>A (n.7187-13C>A) c.1484-13C>A (n.1484-13C>A) | dbSNP |
X | g.31774206G>C | CA2579579140 | DMD | c.2156-14C>G (n.2156-14C>G) c.-71-14C>G (n.-71-14C>G) n.971-14C>G n.893-14C>G n.802-14C>G c.7310-14C>G (n.7310-14C>G) c.3278-14C>G (n.3278-14C>G) c.299-14C>G (n.299-14C>G) c.398-14C>G (n.398-14C>G) c.7298-14C>G (n.7298-14C>G) c.67-14C>G (n.67-14C>G) c.7295-14C>G (n.7295-14C>G) c.7307-14C>G (n.7307-14C>G) c.7286-14C>G (n.7286-14C>G) c.6941-14C>G (n.6941-14C>G) c.3287-14C>G (n.3287-14C>G) c.7181-14C>G (n.7181-14C>G) c.7172-14C>G (n.7172-14C>G) c.7187-14C>G (n.7187-14C>G) c.1484-14C>G (n.1484-14C>G) | |
X | g.31774206G>T | CA2693390353 | DMD | c.2156-14C>A (n.2156-14C>A) c.-71-14C>A (n.-71-14C>A) n.971-14C>A n.893-14C>A n.802-14C>A c.7310-14C>A (n.7310-14C>A) c.3278-14C>A (n.3278-14C>A) c.299-14C>A (n.299-14C>A) c.398-14C>A (n.398-14C>A) c.7298-14C>A (n.7298-14C>A) c.67-14C>A (n.67-14C>A) c.7295-14C>A (n.7295-14C>A) c.7307-14C>A (n.7307-14C>A) c.7286-14C>A (n.7286-14C>A) c.6941-14C>A (n.6941-14C>A) c.3287-14C>A (n.3287-14C>A) c.7181-14C>A (n.7181-14C>A) c.7172-14C>A (n.7172-14C>A) c.7187-14C>A (n.7187-14C>A) c.1484-14C>A (n.1484-14C>A) | gnomAD v4 |
X | g.31774207G>A | CA2693390354 | DMD | c.2156-15C>T (n.2156-15C>T) c.-71-15C>T (n.-71-15C>T) n.971-15C>T n.893-15C>T n.802-15C>T c.7310-15C>T (n.7310-15C>T) c.3278-15C>T (n.3278-15C>T) c.299-15C>T (n.299-15C>T) c.398-15C>T (n.398-15C>T) c.7298-15C>T (n.7298-15C>T) c.67-15C>T (n.67-15C>T) c.7295-15C>T (n.7295-15C>T) c.7307-15C>T (n.7307-15C>T) c.7286-15C>T (n.7286-15C>T) c.6941-15C>T (n.6941-15C>T) c.3287-15C>T (n.3287-15C>T) c.7181-15C>T (n.7181-15C>T) c.7172-15C>T (n.7172-15C>T) c.7187-15C>T (n.7187-15C>T) c.1484-15C>T (n.1484-15C>T) | gnomAD v4 |
X | g.31774207G>T | CA2693390355 | DMD | c.2156-15C>A (n.2156-15C>A) c.-71-15C>A (n.-71-15C>A) n.971-15C>A n.893-15C>A n.802-15C>A c.7310-15C>A (n.7310-15C>A) c.3278-15C>A (n.3278-15C>A) c.299-15C>A (n.299-15C>A) c.398-15C>A (n.398-15C>A) c.7298-15C>A (n.7298-15C>A) c.67-15C>A (n.67-15C>A) c.7295-15C>A (n.7295-15C>A) c.7307-15C>A (n.7307-15C>A) c.7286-15C>A (n.7286-15C>A) c.6941-15C>A (n.6941-15C>A) c.3287-15C>A (n.3287-15C>A) c.7181-15C>A (n.7181-15C>A) c.7172-15C>A (n.7172-15C>A) c.7187-15C>A (n.7187-15C>A) c.1484-15C>A (n.1484-15C>A) | gnomAD v4 |
X | g.31774207_31774208delinsGT | CA2422548688 | DMD | c.2156-16_2156-15delinsAC (n.2156-16_2156-15delinsAC) c.-71-16_-71-15delinsAC (n.-71-16_-71-15delinsAC) n.971-16_971-15delinsAC n.893-16_893-15delinsAC n.802-16_802-15delinsAC c.7310-16_7310-15delinsAC (n.7310-16_7310-15delinsAC) c.3278-16_3278-15delinsAC (n.3278-16_3278-15delinsAC) c.299-16_299-15delinsAC (n.299-16_299-15delinsAC) c.398-16_398-15delinsAC (n.398-16_398-15delinsAC) c.7298-16_7298-15delinsAC (n.7298-16_7298-15delinsAC) c.67-16_67-15delinsAC (n.67-16_67-15delinsAC) c.7295-16_7295-15delinsAC (n.7295-16_7295-15delinsAC) c.7307-16_7307-15delinsAC (n.7307-16_7307-15delinsAC) c.7286-16_7286-15delinsAC (n.7286-16_7286-15delinsAC) c.6941-16_6941-15delinsAC (n.6941-16_6941-15delinsAC) c.3287-16_3287-15delinsAC (n.3287-16_3287-15delinsAC) c.7181-16_7181-15delinsAC (n.7181-16_7181-15delinsAC) c.7172-16_7172-15delinsAC (n.7172-16_7172-15delinsAC) c.7187-16_7187-15delinsAC (n.7187-16_7187-15delinsAC) c.1484-16_1484-15delinsAC (n.1484-16_1484-15delinsAC) | |
X | g.31774208T>C | CA2693390356 | DMD | c.2156-16A>G (n.2156-16A>G) c.-71-16A>G (n.-71-16A>G) n.971-16A>G n.893-16A>G n.802-16A>G c.7310-16A>G (n.7310-16A>G) c.3278-16A>G (n.3278-16A>G) c.299-16A>G (n.299-16A>G) c.398-16A>G (n.398-16A>G) c.7298-16A>G (n.7298-16A>G) c.67-16A>G (n.67-16A>G) c.7295-16A>G (n.7295-16A>G) c.7307-16A>G (n.7307-16A>G) c.7286-16A>G (n.7286-16A>G) c.6941-16A>G (n.6941-16A>G) c.3287-16A>G (n.3287-16A>G) c.7181-16A>G (n.7181-16A>G) c.7172-16A>G (n.7172-16A>G) c.7187-16A>G (n.7187-16A>G) c.1484-16A>G (n.1484-16A>G) | gnomAD v4 |
X | g.31774208T>G | CA2693390357 | DMD | c.2156-16A>C (n.2156-16A>C) c.-71-16A>C (n.-71-16A>C) n.971-16A>C n.893-16A>C n.802-16A>C c.7310-16A>C (n.7310-16A>C) c.3278-16A>C (n.3278-16A>C) c.299-16A>C (n.299-16A>C) c.398-16A>C (n.398-16A>C) c.7298-16A>C (n.7298-16A>C) c.67-16A>C (n.67-16A>C) c.7295-16A>C (n.7295-16A>C) c.7307-16A>C (n.7307-16A>C) c.7286-16A>C (n.7286-16A>C) c.6941-16A>C (n.6941-16A>C) c.3287-16A>C (n.3287-16A>C) c.7181-16A>C (n.7181-16A>C) c.7172-16A>C (n.7172-16A>C) c.7187-16A>C (n.7187-16A>C) c.1484-16A>C (n.1484-16A>C) | gnomAD v4 |
X | g.31774212del | CA222488 | DMD | c.2156-16del (n.2156-16del) c.-71-16del (n.-71-16del) n.971-16del n.893-16del n.802-16del c.7310-16del (n.7310-16del) c.3278-16del (n.3278-16del) c.299-16del (n.299-16del) c.398-16del (n.398-16del) c.7298-16del (n.7298-16del) c.67-16del (n.67-16del) c.7295-16del (n.7295-16del) c.7307-16del (n.7307-16del) c.7286-16del (n.7286-16del) c.6941-16del (n.6941-16del) c.3287-16del (n.3287-16del) c.7181-16del (n.7181-16del) c.7172-16del (n.7172-16del) c.7187-16del (n.7187-16del) c.1484-16del (n.1484-16del) | dbSNP gnomAD v4 |
X | g.31774209T>C | CA2573158643 | DMD | c.2156-17A>G (n.2156-17A>G) c.-71-17A>G (n.-71-17A>G) n.971-17A>G n.893-17A>G n.802-17A>G c.7310-17A>G (n.7310-17A>G) c.3278-17A>G (n.3278-17A>G) c.299-17A>G (n.299-17A>G) c.398-17A>G (n.398-17A>G) c.7298-17A>G (n.7298-17A>G) c.67-17A>G (n.67-17A>G) c.7295-17A>G (n.7295-17A>G) c.7307-17A>G (n.7307-17A>G) c.7286-17A>G (n.7286-17A>G) c.6941-17A>G (n.6941-17A>G) c.3287-17A>G (n.3287-17A>G) c.7181-17A>G (n.7181-17A>G) c.7172-17A>G (n.7172-17A>G) c.7187-17A>G (n.7187-17A>G) c.1484-17A>G (n.1484-17A>G) | ClinVar dbSNP |
X | g.31774210T>G | CA2693390358 | DMD | c.2156-18A>C (n.2156-18A>C) c.-71-18A>C (n.-71-18A>C) n.971-18A>C n.893-18A>C n.802-18A>C c.7310-18A>C (n.7310-18A>C) c.3278-18A>C (n.3278-18A>C) c.299-18A>C (n.299-18A>C) c.398-18A>C (n.398-18A>C) c.7298-18A>C (n.7298-18A>C) c.67-18A>C (n.67-18A>C) c.7295-18A>C (n.7295-18A>C) c.7307-18A>C (n.7307-18A>C) c.7286-18A>C (n.7286-18A>C) c.6941-18A>C (n.6941-18A>C) c.3287-18A>C (n.3287-18A>C) c.7181-18A>C (n.7181-18A>C) c.7172-18A>C (n.7172-18A>C) c.7187-18A>C (n.7187-18A>C) c.1484-18A>C (n.1484-18A>C) | gnomAD v4 |
X | g.31774211T>C | CA2579579141 | DMD | c.2156-19A>G (n.2156-19A>G) c.-71-19A>G (n.-71-19A>G) n.971-19A>G n.893-19A>G n.802-19A>G c.7310-19A>G (n.7310-19A>G) c.3278-19A>G (n.3278-19A>G) c.299-19A>G (n.299-19A>G) c.398-19A>G (n.398-19A>G) c.7298-19A>G (n.7298-19A>G) c.67-19A>G (n.67-19A>G) c.7295-19A>G (n.7295-19A>G) c.7307-19A>G (n.7307-19A>G) c.7286-19A>G (n.7286-19A>G) c.6941-19A>G (n.6941-19A>G) c.3287-19A>G (n.3287-19A>G) c.7181-19A>G (n.7181-19A>G) c.7172-19A>G (n.7172-19A>G) c.7187-19A>G (n.7187-19A>G) c.1484-19A>G (n.1484-19A>G) | ClinVar |
X | g.31774212T>C | CA2579579142 | DMD | c.2156-20A>G (n.2156-20A>G) c.-71-20A>G (n.-71-20A>G) n.971-20A>G n.893-20A>G n.802-20A>G c.7310-20A>G (n.7310-20A>G) c.3278-20A>G (n.3278-20A>G) c.299-20A>G (n.299-20A>G) c.398-20A>G (n.398-20A>G) c.7298-20A>G (n.7298-20A>G) c.67-20A>G (n.67-20A>G) c.7295-20A>G (n.7295-20A>G) c.7307-20A>G (n.7307-20A>G) c.7286-20A>G (n.7286-20A>G) c.6941-20A>G (n.6941-20A>G) c.3287-20A>G (n.3287-20A>G) c.7181-20A>G (n.7181-20A>G) c.7172-20A>G (n.7172-20A>G) c.7187-20A>G (n.7187-20A>G) c.1484-20A>G (n.1484-20A>G) | ClinVar |
X | g.31774213G>A | CA2693390359 | DMD | c.2156-21C>T (n.2156-21C>T) c.-71-21C>T (n.-71-21C>T) n.971-21C>T n.893-21C>T n.802-21C>T c.7310-21C>T (n.7310-21C>T) c.3278-21C>T (n.3278-21C>T) c.299-21C>T (n.299-21C>T) c.398-21C>T (n.398-21C>T) c.7298-21C>T (n.7298-21C>T) c.67-21C>T (n.67-21C>T) c.7295-21C>T (n.7295-21C>T) c.7307-21C>T (n.7307-21C>T) c.7286-21C>T (n.7286-21C>T) c.6941-21C>T (n.6941-21C>T) c.3287-21C>T (n.3287-21C>T) c.7181-21C>T (n.7181-21C>T) c.7172-21C>T (n.7172-21C>T) c.7187-21C>T (n.7187-21C>T) c.1484-21C>T (n.1484-21C>T) | gnomAD v4 |
X | g.31774213G= | CA2422548689 | DMD | c.2156-21C= (n.2156-21C=) c.-71-21C= (n.-71-21C=) n.971-21C= n.893-21C= n.802-21C= c.7310-21C= (n.7310-21C=) c.3278-21C= (n.3278-21C=) c.299-21C= (n.299-21C=) c.398-21C= (n.398-21C=) c.7298-21C= (n.7298-21C=) c.67-21C= (n.67-21C=) c.7295-21C= (n.7295-21C=) c.7307-21C= (n.7307-21C=) c.7286-21C= (n.7286-21C=) c.6941-21C= (n.6941-21C=) c.3287-21C= (n.3287-21C=) c.7181-21C= (n.7181-21C=) c.7172-21C= (n.7172-21C=) c.7187-21C= (n.7187-21C=) c.1484-21C= (n.1484-21C=) | |
X | g.31774213G>T | CA641209472 | DMD | c.2156-21C>A (n.2156-21C>A) c.-71-21C>A (n.-71-21C>A) n.971-21C>A n.893-21C>A n.802-21C>A c.7310-21C>A (n.7310-21C>A) c.3278-21C>A (n.3278-21C>A) c.299-21C>A (n.299-21C>A) c.398-21C>A (n.398-21C>A) c.7298-21C>A (n.7298-21C>A) c.67-21C>A (n.67-21C>A) c.7295-21C>A (n.7295-21C>A) c.7307-21C>A (n.7307-21C>A) c.7286-21C>A (n.7286-21C>A) c.6941-21C>A (n.6941-21C>A) c.3287-21C>A (n.3287-21C>A) c.7181-21C>A (n.7181-21C>A) c.7172-21C>A (n.7172-21C>A) c.7187-21C>A (n.7187-21C>A) c.1484-21C>A (n.1484-21C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.31774214C>A | CA641209474 | DMD | c.2156-22G>T (n.2156-22G>T) c.-71-22G>T (n.-71-22G>T) n.971-22G>T n.893-22G>T n.802-22G>T c.7310-22G>T (n.7310-22G>T) c.3278-22G>T (n.3278-22G>T) c.299-22G>T (n.299-22G>T) c.398-22G>T (n.398-22G>T) c.7298-22G>T (n.7298-22G>T) c.67-22G>T (n.67-22G>T) c.7295-22G>T (n.7295-22G>T) c.7307-22G>T (n.7307-22G>T) c.7286-22G>T (n.7286-22G>T) c.6941-22G>T (n.6941-22G>T) c.3287-22G>T (n.3287-22G>T) c.7181-22G>T (n.7181-22G>T) c.7172-22G>T (n.7172-22G>T) c.7187-22G>T (n.7187-22G>T) c.1484-22G>T (n.1484-22G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774214C= | CA2422548690 | DMD | c.2156-22G= (n.2156-22G=) c.-71-22G= (n.-71-22G=) n.971-22G= n.893-22G= n.802-22G= c.7310-22G= (n.7310-22G=) c.3278-22G= (n.3278-22G=) c.299-22G= (n.299-22G=) c.398-22G= (n.398-22G=) c.7298-22G= (n.7298-22G=) c.67-22G= (n.67-22G=) c.7295-22G= (n.7295-22G=) c.7307-22G= (n.7307-22G=) c.7286-22G= (n.7286-22G=) c.6941-22G= (n.6941-22G=) c.3287-22G= (n.3287-22G=) c.7181-22G= (n.7181-22G=) c.7172-22G= (n.7172-22G=) c.7187-22G= (n.7187-22G=) c.1484-22G= (n.1484-22G=) | |
X | g.31774214C>G | CA2693390360 | DMD | c.2156-22G>C (n.2156-22G>C) c.-71-22G>C (n.-71-22G>C) n.971-22G>C n.893-22G>C n.802-22G>C c.7310-22G>C (n.7310-22G>C) c.3278-22G>C (n.3278-22G>C) c.299-22G>C (n.299-22G>C) c.398-22G>C (n.398-22G>C) c.7298-22G>C (n.7298-22G>C) c.67-22G>C (n.67-22G>C) c.7295-22G>C (n.7295-22G>C) c.7307-22G>C (n.7307-22G>C) c.7286-22G>C (n.7286-22G>C) c.6941-22G>C (n.6941-22G>C) c.3287-22G>C (n.3287-22G>C) c.7181-22G>C (n.7181-22G>C) c.7172-22G>C (n.7172-22G>C) c.7187-22G>C (n.7187-22G>C) c.1484-22G>C (n.1484-22G>C) | gnomAD v4 |
X | g.31774214C>T | CA2579579143 | DMD | c.2156-22G>A (n.2156-22G>A) c.-71-22G>A (n.-71-22G>A) n.971-22G>A n.893-22G>A n.802-22G>A c.7310-22G>A (n.7310-22G>A) c.3278-22G>A (n.3278-22G>A) c.299-22G>A (n.299-22G>A) c.398-22G>A (n.398-22G>A) c.7298-22G>A (n.7298-22G>A) c.67-22G>A (n.67-22G>A) c.7295-22G>A (n.7295-22G>A) c.7307-22G>A (n.7307-22G>A) c.7286-22G>A (n.7286-22G>A) c.6941-22G>A (n.6941-22G>A) c.3287-22G>A (n.3287-22G>A) c.7181-22G>A (n.7181-22G>A) c.7172-22G>A (n.7172-22G>A) c.7187-22G>A (n.7187-22G>A) c.1484-22G>A (n.1484-22G>A) | gnomAD v4 |
X | g.31774215A= | CA2422548691 | DMD | c.2156-23T= (n.2156-23T=) c.-71-23T= (n.-71-23T=) n.971-23T= n.893-23T= n.802-23T= c.7310-23T= (n.7310-23T=) c.3278-23T= (n.3278-23T=) c.299-23T= (n.299-23T=) c.398-23T= (n.398-23T=) c.7298-23T= (n.7298-23T=) c.67-23T= (n.67-23T=) c.7295-23T= (n.7295-23T=) c.7307-23T= (n.7307-23T=) c.7286-23T= (n.7286-23T=) c.6941-23T= (n.6941-23T=) c.3287-23T= (n.3287-23T=) c.7181-23T= (n.7181-23T=) c.7172-23T= (n.7172-23T=) c.7187-23T= (n.7187-23T=) c.1484-23T= (n.1484-23T=) | |
X | g.31774215A>C | CA2422548692 | DMD | c.2156-23T>G (n.2156-23T>G) c.-71-23T>G (n.-71-23T>G) n.971-23T>G n.893-23T>G n.802-23T>G c.7310-23T>G (n.7310-23T>G) c.3278-23T>G (n.3278-23T>G) c.299-23T>G (n.299-23T>G) c.398-23T>G (n.398-23T>G) c.7298-23T>G (n.7298-23T>G) c.67-23T>G (n.67-23T>G) c.7295-23T>G (n.7295-23T>G) c.7307-23T>G (n.7307-23T>G) c.7286-23T>G (n.7286-23T>G) c.6941-23T>G (n.6941-23T>G) c.3287-23T>G (n.3287-23T>G) c.7181-23T>G (n.7181-23T>G) c.7172-23T>G (n.7172-23T>G) c.7187-23T>G (n.7187-23T>G) c.1484-23T>G (n.1484-23T>G) | dbSNP |
X | g.31774215A>G | CA10378291 | DMD | c.2156-23T>C (n.2156-23T>C) c.-71-23T>C (n.-71-23T>C) n.971-23T>C n.893-23T>C n.802-23T>C c.7310-23T>C (n.7310-23T>C) c.3278-23T>C (n.3278-23T>C) c.299-23T>C (n.299-23T>C) c.398-23T>C (n.398-23T>C) c.7298-23T>C (n.7298-23T>C) c.67-23T>C (n.67-23T>C) c.7295-23T>C (n.7295-23T>C) c.7307-23T>C (n.7307-23T>C) c.7286-23T>C (n.7286-23T>C) c.6941-23T>C (n.6941-23T>C) c.3287-23T>C (n.3287-23T>C) c.7181-23T>C (n.7181-23T>C) c.7172-23T>C (n.7172-23T>C) c.7187-23T>C (n.7187-23T>C) c.1484-23T>C (n.1484-23T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31774219_31774220insAAAAAAAAAAA | CA1132108721 | DMD | c.2156-23_2156-22insTTTTTTTTTTT (n.2156-23_2156-22insTTTTTTTTTTT) c.-71-23_-71-22insTTTTTTTTTTT (n.-71-23_-71-22insTTTTTTTTTTT) n.971-23_971-22insTTTTTTTTTTT n.893-23_893-22insTTTTTTTTTTT n.802-23_802-22insTTTTTTTTTTT c.7310-23_7310-22insTTTTTTTTTTT (n.7310-23_7310-22insTTTTTTTTTTT) c.3278-23_3278-22insTTTTTTTTTTT (n.3278-23_3278-22insTTTTTTTTTTT) c.299-23_299-22insTTTTTTTTTTT (n.299-23_299-22insTTTTTTTTTTT) c.398-23_398-22insTTTTTTTTTTT (n.398-23_398-22insTTTTTTTTTTT) c.7298-23_7298-22insTTTTTTTTTTT (n.7298-23_7298-22insTTTTTTTTTTT) c.67-23_67-22insTTTTTTTTTTT (n.67-23_67-22insTTTTTTTTTTT) c.7295-23_7295-22insTTTTTTTTTTT (n.7295-23_7295-22insTTTTTTTTTTT) c.7307-23_7307-22insTTTTTTTTTTT (n.7307-23_7307-22insTTTTTTTTTTT) c.7286-23_7286-22insTTTTTTTTTTT (n.7286-23_7286-22insTTTTTTTTTTT) c.6941-23_6941-22insTTTTTTTTTTT (n.6941-23_6941-22insTTTTTTTTTTT) c.3287-23_3287-22insTTTTTTTTTTT (n.3287-23_3287-22insTTTTTTTTTTT) c.7181-23_7181-22insTTTTTTTTTTT (n.7181-23_7181-22insTTTTTTTTTTT) c.7172-23_7172-22insTTTTTTTTTTT (n.7172-23_7172-22insTTTTTTTTTTT) c.7187-23_7187-22insTTTTTTTTTTT (n.7187-23_7187-22insTTTTTTTTTTT) c.1484-23_1484-22insTTTTTTTTTTT (n.1484-23_1484-22insTTTTTTTTTTT) | |
X | g.31774219dup | CA2820299058 | DMD | c.2156-23dup (n.2156-23dup) c.-71-23dup (n.-71-23dup) n.971-23dup n.893-23dup n.802-23dup c.7310-23dup (n.7310-23dup) c.3278-23dup (n.3278-23dup) c.299-23dup (n.299-23dup) c.398-23dup (n.398-23dup) c.7298-23dup (n.7298-23dup) c.67-23dup (n.67-23dup) c.7295-23dup (n.7295-23dup) c.7307-23dup (n.7307-23dup) c.7286-23dup (n.7286-23dup) c.6941-23dup (n.6941-23dup) c.3287-23dup (n.3287-23dup) c.7181-23dup (n.7181-23dup) c.7172-23dup (n.7172-23dup) c.7187-23dup (n.7187-23dup) c.1484-23dup (n.1484-23dup) | |
X | g.31774219del | CA2693390361 | DMD | c.2156-23del (n.2156-23del) c.-71-23del (n.-71-23del) n.971-23del n.893-23del n.802-23del c.7310-23del (n.7310-23del) c.3278-23del (n.3278-23del) c.299-23del (n.299-23del) c.398-23del (n.398-23del) c.7298-23del (n.7298-23del) c.67-23del (n.67-23del) c.7295-23del (n.7295-23del) c.7307-23del (n.7307-23del) c.7286-23del (n.7286-23del) c.6941-23del (n.6941-23del) c.3287-23del (n.3287-23del) c.7181-23del (n.7181-23del) c.7172-23del (n.7172-23del) c.7187-23del (n.7187-23del) c.1484-23del (n.1484-23del) | gnomAD v4 |
X | g.31774216A= | CA2422548693 | DMD | c.2156-24T= (n.2156-24T=) c.-71-24T= (n.-71-24T=) n.971-24T= n.893-24T= n.802-24T= c.7310-24T= (n.7310-24T=) c.3278-24T= (n.3278-24T=) c.299-24T= (n.299-24T=) c.398-24T= (n.398-24T=) c.7298-24T= (n.7298-24T=) c.67-24T= (n.67-24T=) c.7295-24T= (n.7295-24T=) c.7307-24T= (n.7307-24T=) c.7286-24T= (n.7286-24T=) c.6941-24T= (n.6941-24T=) c.3287-24T= (n.3287-24T=) c.7181-24T= (n.7181-24T=) c.7172-24T= (n.7172-24T=) c.7187-24T= (n.7187-24T=) c.1484-24T= (n.1484-24T=) | |
X | g.31774216A>G | CA641209476 | DMD | c.2156-24T>C (n.2156-24T>C) c.-71-24T>C (n.-71-24T>C) n.971-24T>C n.893-24T>C n.802-24T>C c.7310-24T>C (n.7310-24T>C) c.3278-24T>C (n.3278-24T>C) c.299-24T>C (n.299-24T>C) c.398-24T>C (n.398-24T>C) c.7298-24T>C (n.7298-24T>C) c.67-24T>C (n.67-24T>C) c.7295-24T>C (n.7295-24T>C) c.7307-24T>C (n.7307-24T>C) c.7286-24T>C (n.7286-24T>C) c.6941-24T>C (n.6941-24T>C) c.3287-24T>C (n.3287-24T>C) c.7181-24T>C (n.7181-24T>C) c.7172-24T>C (n.7172-24T>C) c.7187-24T>C (n.7187-24T>C) c.1484-24T>C (n.1484-24T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774218_31774220delinsAAG | CA2422548694 | DMD | c.2156-28_2156-26delinsCTT (n.2156-28_2156-26delinsCTT) c.-71-28_-71-26delinsCTT (n.-71-28_-71-26delinsCTT) n.971-28_971-26delinsCTT n.893-28_893-26delinsCTT n.802-28_802-26delinsCTT c.7310-28_7310-26delinsCTT (n.7310-28_7310-26delinsCTT) c.3278-28_3278-26delinsCTT (n.3278-28_3278-26delinsCTT) c.299-28_299-26delinsCTT (n.299-28_299-26delinsCTT) c.398-28_398-26delinsCTT (n.398-28_398-26delinsCTT) c.7298-28_7298-26delinsCTT (n.7298-28_7298-26delinsCTT) c.67-28_67-26delinsCTT (n.67-28_67-26delinsCTT) c.7295-28_7295-26delinsCTT (n.7295-28_7295-26delinsCTT) c.7307-28_7307-26delinsCTT (n.7307-28_7307-26delinsCTT) c.7286-28_7286-26delinsCTT (n.7286-28_7286-26delinsCTT) c.6941-28_6941-26delinsCTT (n.6941-28_6941-26delinsCTT) c.3287-28_3287-26delinsCTT (n.3287-28_3287-26delinsCTT) c.7181-28_7181-26delinsCTT (n.7181-28_7181-26delinsCTT) c.7172-28_7172-26delinsCTT (n.7172-28_7172-26delinsCTT) c.7187-28_7187-26delinsCTT (n.7187-28_7187-26delinsCTT) c.1484-28_1484-26delinsCTT (n.1484-28_1484-26delinsCTT) | |
X | g.31774219_31774220del | CA641209478 | DMD | c.2156-28_2156-27del (n.2156-28_2156-27del) c.-71-28_-71-27del (n.-71-28_-71-27del) n.971-28_971-27del n.893-28_893-27del n.802-28_802-27del c.7310-28_7310-27del (n.7310-28_7310-27del) c.3278-28_3278-27del (n.3278-28_3278-27del) c.299-28_299-27del (n.299-28_299-27del) c.398-28_398-27del (n.398-28_398-27del) c.7298-28_7298-27del (n.7298-28_7298-27del) c.67-28_67-27del (n.67-28_67-27del) c.7295-28_7295-27del (n.7295-28_7295-27del) c.7307-28_7307-27del (n.7307-28_7307-27del) c.7286-28_7286-27del (n.7286-28_7286-27del) c.6941-28_6941-27del (n.6941-28_6941-27del) c.3287-28_3287-27del (n.3287-28_3287-27del) c.7181-28_7181-27del (n.7181-28_7181-27del) c.7172-28_7172-27del (n.7172-28_7172-27del) c.7187-28_7187-27del (n.7187-28_7187-27del) c.1484-28_1484-27del (n.1484-28_1484-27del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.31774220G>A | CA1132108726 | DMD | c.2156-28C>T (n.2156-28C>T) c.-71-28C>T (n.-71-28C>T) n.971-28C>T n.893-28C>T n.802-28C>T c.7310-28C>T (n.7310-28C>T) c.3278-28C>T (n.3278-28C>T) c.299-28C>T (n.299-28C>T) c.398-28C>T (n.398-28C>T) c.7298-28C>T (n.7298-28C>T) c.67-28C>T (n.67-28C>T) c.7295-28C>T (n.7295-28C>T) c.7307-28C>T (n.7307-28C>T) c.7286-28C>T (n.7286-28C>T) c.6941-28C>T (n.6941-28C>T) c.3287-28C>T (n.3287-28C>T) c.7181-28C>T (n.7181-28C>T) c.7172-28C>T (n.7172-28C>T) c.7187-28C>T (n.7187-28C>T) c.1484-28C>T (n.1484-28C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.31774220G= | CA2422548695 | DMD | c.2156-28C= (n.2156-28C=) c.-71-28C= (n.-71-28C=) n.971-28C= n.893-28C= n.802-28C= c.7310-28C= (n.7310-28C=) c.3278-28C= (n.3278-28C=) c.299-28C= (n.299-28C=) c.398-28C= (n.398-28C=) c.7298-28C= (n.7298-28C=) c.67-28C= (n.67-28C=) c.7295-28C= (n.7295-28C=) c.7307-28C= (n.7307-28C=) c.7286-28C= (n.7286-28C=) c.6941-28C= (n.6941-28C=) c.3287-28C= (n.3287-28C=) c.7181-28C= (n.7181-28C=) c.7172-28C= (n.7172-28C=) c.7187-28C= (n.7187-28C=) c.1484-28C= (n.1484-28C=) | |
X | g.31774220_31774221del | CA2693390362 | DMD | c.2156-29_2156-28del (n.2156-29_2156-28del) c.-71-29_-71-28del (n.-71-29_-71-28del) n.971-29_971-28del n.893-29_893-28del n.802-29_802-28del c.7310-29_7310-28del (n.7310-29_7310-28del) c.3278-29_3278-28del (n.3278-29_3278-28del) c.299-29_299-28del (n.299-29_299-28del) c.398-29_398-28del (n.398-29_398-28del) c.7298-29_7298-28del (n.7298-29_7298-28del) c.67-29_67-28del (n.67-29_67-28del) c.7295-29_7295-28del (n.7295-29_7295-28del) c.7307-29_7307-28del (n.7307-29_7307-28del) c.7286-29_7286-28del (n.7286-29_7286-28del) c.6941-29_6941-28del (n.6941-29_6941-28del) c.3287-29_3287-28del (n.3287-29_3287-28del) c.7181-29_7181-28del (n.7181-29_7181-28del) c.7172-29_7172-28del (n.7172-29_7172-28del) c.7187-29_7187-28del (n.7187-29_7187-28del) c.1484-29_1484-28del (n.1484-29_1484-28del) | gnomAD v4 |
X | g.31774221G>A | CA10378293 | DMD | c.2156-29C>T (n.2156-29C>T) c.-71-29C>T (n.-71-29C>T) n.971-29C>T n.893-29C>T n.802-29C>T c.7310-29C>T (n.7310-29C>T) c.3278-29C>T (n.3278-29C>T) c.299-29C>T (n.299-29C>T) c.398-29C>T (n.398-29C>T) c.7298-29C>T (n.7298-29C>T) c.67-29C>T (n.67-29C>T) c.7295-29C>T (n.7295-29C>T) c.7307-29C>T (n.7307-29C>T) c.7286-29C>T (n.7286-29C>T) c.6941-29C>T (n.6941-29C>T) c.3287-29C>T (n.3287-29C>T) c.7181-29C>T (n.7181-29C>T) c.7172-29C>T (n.7172-29C>T) c.7187-29C>T (n.7187-29C>T) c.1484-29C>T (n.1484-29C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774221G>C | CA222489 | DMD | c.2156-29C>G (n.2156-29C>G) c.-71-29C>G (n.-71-29C>G) n.971-29C>G n.893-29C>G n.802-29C>G c.7310-29C>G (n.7310-29C>G) c.3278-29C>G (n.3278-29C>G) c.299-29C>G (n.299-29C>G) c.398-29C>G (n.398-29C>G) c.7298-29C>G (n.7298-29C>G) c.67-29C>G (n.67-29C>G) c.7295-29C>G (n.7295-29C>G) c.7307-29C>G (n.7307-29C>G) c.7286-29C>G (n.7286-29C>G) c.6941-29C>G (n.6941-29C>G) c.3287-29C>G (n.3287-29C>G) c.7181-29C>G (n.7181-29C>G) c.7172-29C>G (n.7172-29C>G) c.7187-29C>G (n.7187-29C>G) c.1484-29C>G (n.1484-29C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774221G= | CA2422548696 | DMD | c.2156-29C= (n.2156-29C=) c.-71-29C= (n.-71-29C=) n.971-29C= n.893-29C= n.802-29C= c.7310-29C= (n.7310-29C=) c.3278-29C= (n.3278-29C=) c.299-29C= (n.299-29C=) c.398-29C= (n.398-29C=) c.7298-29C= (n.7298-29C=) c.67-29C= (n.67-29C=) c.7295-29C= (n.7295-29C=) c.7307-29C= (n.7307-29C=) c.7286-29C= (n.7286-29C=) c.6941-29C= (n.6941-29C=) c.3287-29C= (n.3287-29C=) c.7181-29C= (n.7181-29C=) c.7172-29C= (n.7172-29C=) c.7187-29C= (n.7187-29C=) c.1484-29C= (n.1484-29C=) | |
X | g.31774221G>T | CA2693390364 | DMD | c.2156-29C>A (n.2156-29C>A) c.-71-29C>A (n.-71-29C>A) n.971-29C>A n.893-29C>A n.802-29C>A c.7310-29C>A (n.7310-29C>A) c.3278-29C>A (n.3278-29C>A) c.299-29C>A (n.299-29C>A) c.398-29C>A (n.398-29C>A) c.7298-29C>A (n.7298-29C>A) c.67-29C>A (n.67-29C>A) c.7295-29C>A (n.7295-29C>A) c.7307-29C>A (n.7307-29C>A) c.7286-29C>A (n.7286-29C>A) c.6941-29C>A (n.6941-29C>A) c.3287-29C>A (n.3287-29C>A) c.7181-29C>A (n.7181-29C>A) c.7172-29C>A (n.7172-29C>A) c.7187-29C>A (n.7187-29C>A) c.1484-29C>A (n.1484-29C>A) | gnomAD v4 |
X | g.31774221_31774222delinsGA | CA2422548697 | DMD | c.2156-30_2156-29delinsTC (n.2156-30_2156-29delinsTC) c.-71-30_-71-29delinsTC (n.-71-30_-71-29delinsTC) n.971-30_971-29delinsTC n.893-30_893-29delinsTC n.802-30_802-29delinsTC c.7310-30_7310-29delinsTC (n.7310-30_7310-29delinsTC) c.3278-30_3278-29delinsTC (n.3278-30_3278-29delinsTC) c.299-30_299-29delinsTC (n.299-30_299-29delinsTC) c.398-30_398-29delinsTC (n.398-30_398-29delinsTC) c.7298-30_7298-29delinsTC (n.7298-30_7298-29delinsTC) c.67-30_67-29delinsTC (n.67-30_67-29delinsTC) c.7295-30_7295-29delinsTC (n.7295-30_7295-29delinsTC) c.7307-30_7307-29delinsTC (n.7307-30_7307-29delinsTC) c.7286-30_7286-29delinsTC (n.7286-30_7286-29delinsTC) c.6941-30_6941-29delinsTC (n.6941-30_6941-29delinsTC) c.3287-30_3287-29delinsTC (n.3287-30_3287-29delinsTC) c.7181-30_7181-29delinsTC (n.7181-30_7181-29delinsTC) c.7172-30_7172-29delinsTC (n.7172-30_7172-29delinsTC) c.7187-30_7187-29delinsTC (n.7187-30_7187-29delinsTC) c.1484-30_1484-29delinsTC (n.1484-30_1484-29delinsTC) | |
X | g.31774227_31774228insAAAGAAAAAA | CA2693390363 | DMD | c.2156-29_2156-28insTTTTTTTTTC (n.2156-29_2156-28insTTTTTTTTTC) c.-71-29_-71-28insTTTTTTTTTC (n.-71-29_-71-28insTTTTTTTTTC) n.971-29_971-28insTTTTTTTTTC n.893-29_893-28insTTTTTTTTTC n.802-29_802-28insTTTTTTTTTC c.7310-29_7310-28insTTTTTTTTTC (n.7310-29_7310-28insTTTTTTTTTC) c.3278-29_3278-28insTTTTTTTTTC (n.3278-29_3278-28insTTTTTTTTTC) c.299-29_299-28insTTTTTTTTTC (n.299-29_299-28insTTTTTTTTTC) c.398-29_398-28insTTTTTTTTTC (n.398-29_398-28insTTTTTTTTTC) c.7298-29_7298-28insTTTTTTTTTC (n.7298-29_7298-28insTTTTTTTTTC) c.67-29_67-28insTTTTTTTTTC (n.67-29_67-28insTTTTTTTTTC) c.7295-29_7295-28insTTTTTTTTTC (n.7295-29_7295-28insTTTTTTTTTC) c.7307-29_7307-28insTTTTTTTTTC (n.7307-29_7307-28insTTTTTTTTTC) c.7286-29_7286-28insTTTTTTTTTC (n.7286-29_7286-28insTTTTTTTTTC) c.6941-29_6941-28insTTTTTTTTTC (n.6941-29_6941-28insTTTTTTTTTC) c.3287-29_3287-28insTTTTTTTTTC (n.3287-29_3287-28insTTTTTTTTTC) c.7181-29_7181-28insTTTTTTTTTC (n.7181-29_7181-28insTTTTTTTTTC) c.7172-29_7172-28insTTTTTTTTTC (n.7172-29_7172-28insTTTTTTTTTC) c.7187-29_7187-28insTTTTTTTTTC (n.7187-29_7187-28insTTTTTTTTTC) c.1484-29_1484-28insTTTTTTTTTC (n.1484-29_1484-28insTTTTTTTTTC) | gnomAD v4 |
X | g.31774222A= | CA2422548698 | DMD | c.2156-30T= (n.2156-30T=) c.-71-30T= (n.-71-30T=) n.971-30T= n.893-30T= n.802-30T= c.7310-30T= (n.7310-30T=) c.3278-30T= (n.3278-30T=) c.299-30T= (n.299-30T=) c.398-30T= (n.398-30T=) c.7298-30T= (n.7298-30T=) c.67-30T= (n.67-30T=) c.7295-30T= (n.7295-30T=) c.7307-30T= (n.7307-30T=) c.7286-30T= (n.7286-30T=) c.6941-30T= (n.6941-30T=) c.3287-30T= (n.3287-30T=) c.7181-30T= (n.7181-30T=) c.7172-30T= (n.7172-30T=) c.7187-30T= (n.7187-30T=) c.1484-30T= (n.1484-30T=) | |
X | g.31774222A>C | CA10378294 | DMD | c.2156-30T>G (n.2156-30T>G) c.-71-30T>G (n.-71-30T>G) n.971-30T>G n.893-30T>G n.802-30T>G c.7310-30T>G (n.7310-30T>G) c.3278-30T>G (n.3278-30T>G) c.299-30T>G (n.299-30T>G) c.398-30T>G (n.398-30T>G) c.7298-30T>G (n.7298-30T>G) c.67-30T>G (n.67-30T>G) c.7295-30T>G (n.7295-30T>G) c.7307-30T>G (n.7307-30T>G) c.7286-30T>G (n.7286-30T>G) c.6941-30T>G (n.6941-30T>G) c.3287-30T>G (n.3287-30T>G) c.7181-30T>G (n.7181-30T>G) c.7172-30T>G (n.7172-30T>G) c.7187-30T>G (n.7187-30T>G) c.1484-30T>G (n.1484-30T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31774227dup | CA10378292 | DMD | c.2156-30dup (n.2156-30dup) c.-71-30dup (n.-71-30dup) n.971-30dup n.893-30dup n.802-30dup c.7310-30dup (n.7310-30dup) c.3278-30dup (n.3278-30dup) c.299-30dup (n.299-30dup) c.398-30dup (n.398-30dup) c.7298-30dup (n.7298-30dup) c.67-30dup (n.67-30dup) c.7295-30dup (n.7295-30dup) c.7307-30dup (n.7307-30dup) c.7286-30dup (n.7286-30dup) c.6941-30dup (n.6941-30dup) c.3287-30dup (n.3287-30dup) c.7181-30dup (n.7181-30dup) c.7172-30dup (n.7172-30dup) c.7187-30dup (n.7187-30dup) c.1484-30dup (n.1484-30dup) | dbSNP ExAC gnomAD v4 |
X | g.31774227del | CA641209483 | DMD | c.2156-30del (n.2156-30del) c.-71-30del (n.-71-30del) n.971-30del n.893-30del n.802-30del c.7310-30del (n.7310-30del) c.3278-30del (n.3278-30del) c.299-30del (n.299-30del) c.398-30del (n.398-30del) c.7298-30del (n.7298-30del) c.67-30del (n.67-30del) c.7295-30del (n.7295-30del) c.7307-30del (n.7307-30del) c.7286-30del (n.7286-30del) c.6941-30del (n.6941-30del) c.3287-30del (n.3287-30del) c.7181-30del (n.7181-30del) c.7172-30del (n.7172-30del) c.7187-30del (n.7187-30del) c.1484-30del (n.1484-30del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.31774224A= | CA2422548699 | DMD | c.2156-32T= (n.2156-32T=) c.-71-32T= (n.-71-32T=) n.971-32T= n.893-32T= n.802-32T= c.7310-32T= (n.7310-32T=) c.3278-32T= (n.3278-32T=) c.299-32T= (n.299-32T=) c.398-32T= (n.398-32T=) c.7298-32T= (n.7298-32T=) c.67-32T= (n.67-32T=) c.7295-32T= (n.7295-32T=) c.7307-32T= (n.7307-32T=) c.7286-32T= (n.7286-32T=) c.6941-32T= (n.6941-32T=) c.3287-32T= (n.3287-32T=) c.7181-32T= (n.7181-32T=) c.7172-32T= (n.7172-32T=) c.7187-32T= (n.7187-32T=) c.1484-32T= (n.1484-32T=) | |
X | g.31774224A>G | CA10378295 | DMD | c.2156-32T>C (n.2156-32T>C) c.-71-32T>C (n.-71-32T>C) n.971-32T>C n.893-32T>C n.802-32T>C c.7310-32T>C (n.7310-32T>C) c.3278-32T>C (n.3278-32T>C) c.299-32T>C (n.299-32T>C) c.398-32T>C (n.398-32T>C) c.7298-32T>C (n.7298-32T>C) c.67-32T>C (n.67-32T>C) c.7295-32T>C (n.7295-32T>C) c.7307-32T>C (n.7307-32T>C) c.7286-32T>C (n.7286-32T>C) c.6941-32T>C (n.6941-32T>C) c.3287-32T>C (n.3287-32T>C) c.7181-32T>C (n.7181-32T>C) c.7172-32T>C (n.7172-32T>C) c.7187-32T>C (n.7187-32T>C) c.1484-32T>C (n.1484-32T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774225A= | CA2422548700 | DMD | c.2156-33T= (n.2156-33T=) c.-71-33T= (n.-71-33T=) n.971-33T= n.893-33T= n.802-33T= c.7310-33T= (n.7310-33T=) c.3278-33T= (n.3278-33T=) c.299-33T= (n.299-33T=) c.398-33T= (n.398-33T=) c.7298-33T= (n.7298-33T=) c.67-33T= (n.67-33T=) c.7295-33T= (n.7295-33T=) c.7307-33T= (n.7307-33T=) c.7286-33T= (n.7286-33T=) c.6941-33T= (n.6941-33T=) c.3287-33T= (n.3287-33T=) c.7181-33T= (n.7181-33T=) c.7172-33T= (n.7172-33T=) c.7187-33T= (n.7187-33T=) c.1484-33T= (n.1484-33T=) | |
X | g.31774225A>C | CA10378296 | DMD | c.2156-33T>G (n.2156-33T>G) c.-71-33T>G (n.-71-33T>G) n.971-33T>G n.893-33T>G n.802-33T>G c.7310-33T>G (n.7310-33T>G) c.3278-33T>G (n.3278-33T>G) c.299-33T>G (n.299-33T>G) c.398-33T>G (n.398-33T>G) c.7298-33T>G (n.7298-33T>G) c.67-33T>G (n.67-33T>G) c.7295-33T>G (n.7295-33T>G) c.7307-33T>G (n.7307-33T>G) c.7286-33T>G (n.7286-33T>G) c.6941-33T>G (n.6941-33T>G) c.3287-33T>G (n.3287-33T>G) c.7181-33T>G (n.7181-33T>G) c.7172-33T>G (n.7172-33T>G) c.7187-33T>G (n.7187-33T>G) c.1484-33T>G (n.1484-33T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774225_31774228delinsAAAG | CA2422548701 | DMD | c.2156-36_2156-33delinsCTTT (n.2156-36_2156-33delinsCTTT) c.-71-36_-71-33delinsCTTT (n.-71-36_-71-33delinsCTTT) n.971-36_971-33delinsCTTT n.893-36_893-33delinsCTTT n.802-36_802-33delinsCTTT c.7310-36_7310-33delinsCTTT (n.7310-36_7310-33delinsCTTT) c.3278-36_3278-33delinsCTTT (n.3278-36_3278-33delinsCTTT) c.299-36_299-33delinsCTTT (n.299-36_299-33delinsCTTT) c.398-36_398-33delinsCTTT (n.398-36_398-33delinsCTTT) c.7298-36_7298-33delinsCTTT (n.7298-36_7298-33delinsCTTT) c.67-36_67-33delinsCTTT (n.67-36_67-33delinsCTTT) c.7295-36_7295-33delinsCTTT (n.7295-36_7295-33delinsCTTT) c.7307-36_7307-33delinsCTTT (n.7307-36_7307-33delinsCTTT) c.7286-36_7286-33delinsCTTT (n.7286-36_7286-33delinsCTTT) c.6941-36_6941-33delinsCTTT (n.6941-36_6941-33delinsCTTT) c.3287-36_3287-33delinsCTTT (n.3287-36_3287-33delinsCTTT) c.7181-36_7181-33delinsCTTT (n.7181-36_7181-33delinsCTTT) c.7172-36_7172-33delinsCTTT (n.7172-36_7172-33delinsCTTT) c.7187-36_7187-33delinsCTTT (n.7187-36_7187-33delinsCTTT) c.1484-36_1484-33delinsCTTT (n.1484-36_1484-33delinsCTTT) | |
X | g.31774226A>G | CA2820299064 | DMD | c.2156-34T>C (n.2156-34T>C) c.-71-34T>C (n.-71-34T>C) n.971-34T>C n.893-34T>C n.802-34T>C c.7310-34T>C (n.7310-34T>C) c.3278-34T>C (n.3278-34T>C) c.299-34T>C (n.299-34T>C) c.398-34T>C (n.398-34T>C) c.7298-34T>C (n.7298-34T>C) c.67-34T>C (n.67-34T>C) c.7295-34T>C (n.7295-34T>C) c.7307-34T>C (n.7307-34T>C) c.7286-34T>C (n.7286-34T>C) c.6941-34T>C (n.6941-34T>C) c.3287-34T>C (n.3287-34T>C) c.7181-34T>C (n.7181-34T>C) c.7172-34T>C (n.7172-34T>C) c.7187-34T>C (n.7187-34T>C) c.1484-34T>C (n.1484-34T>C) | |
X | g.31774231_31774233del | CA641209485 | DMD | c.2156-36_2156-34del (n.2156-36_2156-34del) c.-71-36_-71-34del (n.-71-36_-71-34del) n.971-36_971-34del n.893-36_893-34del n.802-36_802-34del c.7310-36_7310-34del (n.7310-36_7310-34del) c.3278-36_3278-34del (n.3278-36_3278-34del) c.299-36_299-34del (n.299-36_299-34del) c.398-36_398-34del (n.398-36_398-34del) c.7298-36_7298-34del (n.7298-36_7298-34del) c.67-36_67-34del (n.67-36_67-34del) c.7295-36_7295-34del (n.7295-36_7295-34del) c.7307-36_7307-34del (n.7307-36_7307-34del) c.7286-36_7286-34del (n.7286-36_7286-34del) c.6941-36_6941-34del (n.6941-36_6941-34del) c.3287-36_3287-34del (n.3287-36_3287-34del) c.7181-36_7181-34del (n.7181-36_7181-34del) c.7172-36_7172-34del (n.7172-36_7172-34del) c.7187-36_7187-34del (n.7187-36_7187-34del) c.1484-36_1484-34del (n.1484-36_1484-34del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774228_31774233del | CA2693390365 | DMD | c.2156-39_2156-34del (n.2156-39_2156-34del) c.-71-39_-71-34del (n.-71-39_-71-34del) n.971-39_971-34del n.893-39_893-34del n.802-39_802-34del c.7310-39_7310-34del (n.7310-39_7310-34del) c.3278-39_3278-34del (n.3278-39_3278-34del) c.299-39_299-34del (n.299-39_299-34del) c.398-39_398-34del (n.398-39_398-34del) c.7298-39_7298-34del (n.7298-39_7298-34del) c.67-39_67-34del (n.67-39_67-34del) c.7295-39_7295-34del (n.7295-39_7295-34del) c.7307-39_7307-34del (n.7307-39_7307-34del) c.7286-39_7286-34del (n.7286-39_7286-34del) c.6941-39_6941-34del (n.6941-39_6941-34del) c.3287-39_3287-34del (n.3287-39_3287-34del) c.7181-39_7181-34del (n.7181-39_7181-34del) c.7172-39_7172-34del (n.7172-39_7172-34del) c.7187-39_7187-34del (n.7187-39_7187-34del) c.1484-39_1484-34del (n.1484-39_1484-34del) | gnomAD v4 |
X | g.31774227A>G | CA2579579144 | DMD | c.2156-35T>C (n.2156-35T>C) c.-71-35T>C (n.-71-35T>C) n.971-35T>C n.893-35T>C n.802-35T>C c.7310-35T>C (n.7310-35T>C) c.3278-35T>C (n.3278-35T>C) c.299-35T>C (n.299-35T>C) c.398-35T>C (n.398-35T>C) c.7298-35T>C (n.7298-35T>C) c.67-35T>C (n.67-35T>C) c.7295-35T>C (n.7295-35T>C) c.7307-35T>C (n.7307-35T>C) c.7286-35T>C (n.7286-35T>C) c.6941-35T>C (n.6941-35T>C) c.3287-35T>C (n.3287-35T>C) c.7181-35T>C (n.7181-35T>C) c.7172-35T>C (n.7172-35T>C) c.7187-35T>C (n.7187-35T>C) c.1484-35T>C (n.1484-35T>C) | gnomAD v4 |
X | g.31774228del | CA2693390366 | DMD | c.2156-36del (n.2156-36del) c.-71-36del (n.-71-36del) n.971-36del n.893-36del n.802-36del c.7310-36del (n.7310-36del) c.3278-36del (n.3278-36del) c.299-36del (n.299-36del) c.398-36del (n.398-36del) c.7298-36del (n.7298-36del) c.67-36del (n.67-36del) c.7295-36del (n.7295-36del) c.7307-36del (n.7307-36del) c.7286-36del (n.7286-36del) c.6941-36del (n.6941-36del) c.3287-36del (n.3287-36del) c.7181-36del (n.7181-36del) c.7172-36del (n.7172-36del) c.7187-36del (n.7187-36del) c.1484-36del (n.1484-36del) | gnomAD v4 |
X | g.31774228G>A | CA147855 | DMD | c.2156-36C>T (n.2156-36C>T) c.-71-36C>T (n.-71-36C>T) n.971-36C>T n.893-36C>T n.802-36C>T c.7310-36C>T (n.7310-36C>T) c.3278-36C>T (n.3278-36C>T) c.299-36C>T (n.299-36C>T) c.398-36C>T (n.398-36C>T) c.7298-36C>T (n.7298-36C>T) c.67-36C>T (n.67-36C>T) c.7295-36C>T (n.7295-36C>T) c.7307-36C>T (n.7307-36C>T) c.7286-36C>T (n.7286-36C>T) c.6941-36C>T (n.6941-36C>T) c.3287-36C>T (n.3287-36C>T) c.7181-36C>T (n.7181-36C>T) c.7172-36C>T (n.7172-36C>T) c.7187-36C>T (n.7187-36C>T) c.1484-36C>T (n.1484-36C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774228G= | CA2422548702 | DMD | c.2156-36C= (n.2156-36C=) c.-71-36C= (n.-71-36C=) n.971-36C= n.893-36C= n.802-36C= c.7310-36C= (n.7310-36C=) c.3278-36C= (n.3278-36C=) c.299-36C= (n.299-36C=) c.398-36C= (n.398-36C=) c.7298-36C= (n.7298-36C=) c.67-36C= (n.67-36C=) c.7295-36C= (n.7295-36C=) c.7307-36C= (n.7307-36C=) c.7286-36C= (n.7286-36C=) c.6941-36C= (n.6941-36C=) c.3287-36C= (n.3287-36C=) c.7181-36C= (n.7181-36C=) c.7172-36C= (n.7172-36C=) c.7187-36C= (n.7187-36C=) c.1484-36C= (n.1484-36C=) | |
X | g.31774228G>T | CA2693390367 | DMD | c.2156-36C>A (n.2156-36C>A) c.-71-36C>A (n.-71-36C>A) n.971-36C>A n.893-36C>A n.802-36C>A c.7310-36C>A (n.7310-36C>A) c.3278-36C>A (n.3278-36C>A) c.299-36C>A (n.299-36C>A) c.398-36C>A (n.398-36C>A) c.7298-36C>A (n.7298-36C>A) c.67-36C>A (n.67-36C>A) c.7295-36C>A (n.7295-36C>A) c.7307-36C>A (n.7307-36C>A) c.7286-36C>A (n.7286-36C>A) c.6941-36C>A (n.6941-36C>A) c.3287-36C>A (n.3287-36C>A) c.7181-36C>A (n.7181-36C>A) c.7172-36C>A (n.7172-36C>A) c.7187-36C>A (n.7187-36C>A) c.1484-36C>A (n.1484-36C>A) | gnomAD v4 |
X | g.31774231G>A | CA2693390368 | DMD | c.2156-39C>T (n.2156-39C>T) c.-71-39C>T (n.-71-39C>T) n.971-39C>T n.893-39C>T n.802-39C>T c.7310-39C>T (n.7310-39C>T) c.3278-39C>T (n.3278-39C>T) c.299-39C>T (n.299-39C>T) c.398-39C>T (n.398-39C>T) c.7298-39C>T (n.7298-39C>T) c.67-39C>T (n.67-39C>T) c.7295-39C>T (n.7295-39C>T) c.7307-39C>T (n.7307-39C>T) c.7286-39C>T (n.7286-39C>T) c.6941-39C>T (n.6941-39C>T) c.3287-39C>T (n.3287-39C>T) c.7181-39C>T (n.7181-39C>T) c.7172-39C>T (n.7172-39C>T) c.7187-39C>T (n.7187-39C>T) c.1484-39C>T (n.1484-39C>T) | gnomAD v4 |
X | g.31774231G>T | CA2693390369 | DMD | c.2156-39C>A (n.2156-39C>A) c.-71-39C>A (n.-71-39C>A) n.971-39C>A n.893-39C>A n.802-39C>A c.7310-39C>A (n.7310-39C>A) c.3278-39C>A (n.3278-39C>A) c.299-39C>A (n.299-39C>A) c.398-39C>A (n.398-39C>A) c.7298-39C>A (n.7298-39C>A) c.67-39C>A (n.67-39C>A) c.7295-39C>A (n.7295-39C>A) c.7307-39C>A (n.7307-39C>A) c.7286-39C>A (n.7286-39C>A) c.6941-39C>A (n.6941-39C>A) c.3287-39C>A (n.3287-39C>A) c.7181-39C>A (n.7181-39C>A) c.7172-39C>A (n.7172-39C>A) c.7187-39C>A (n.7187-39C>A) c.1484-39C>A (n.1484-39C>A) | gnomAD v4 |
X | g.31774240A= | CA2422548703 | DMD | c.2156-48T= (n.2156-48T=) c.-71-48T= (n.-71-48T=) n.971-48T= n.893-48T= n.802-48T= c.7310-48T= (n.7310-48T=) c.3278-48T= (n.3278-48T=) c.299-48T= (n.299-48T=) c.398-48T= (n.398-48T=) c.7298-48T= (n.7298-48T=) c.67-48T= (n.67-48T=) c.7295-48T= (n.7295-48T=) c.7307-48T= (n.7307-48T=) c.7286-48T= (n.7286-48T=) c.6941-48T= (n.6941-48T=) c.3287-48T= (n.3287-48T=) c.7181-48T= (n.7181-48T=) c.7172-48T= (n.7172-48T=) c.7187-48T= (n.7187-48T=) c.1484-48T= (n.1484-48T=) | |
X | g.31774240A>C | CA641209488 | DMD | c.2156-48T>G (n.2156-48T>G) c.-71-48T>G (n.-71-48T>G) n.971-48T>G n.893-48T>G n.802-48T>G c.7310-48T>G (n.7310-48T>G) c.3278-48T>G (n.3278-48T>G) c.299-48T>G (n.299-48T>G) c.398-48T>G (n.398-48T>G) c.7298-48T>G (n.7298-48T>G) c.67-48T>G (n.67-48T>G) c.7295-48T>G (n.7295-48T>G) c.7307-48T>G (n.7307-48T>G) c.7286-48T>G (n.7286-48T>G) c.6941-48T>G (n.6941-48T>G) c.3287-48T>G (n.3287-48T>G) c.7181-48T>G (n.7181-48T>G) c.7172-48T>G (n.7172-48T>G) c.7187-48T>G (n.7187-48T>G) c.1484-48T>G (n.1484-48T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774242_31774244delinsATT | CA2422548704 | DMD | c.2156-52_2156-50delinsAAT (n.2156-52_2156-50delinsAAT) c.-71-52_-71-50delinsAAT (n.-71-52_-71-50delinsAAT) n.971-52_971-50delinsAAT n.893-52_893-50delinsAAT n.802-52_802-50delinsAAT c.7310-52_7310-50delinsAAT (n.7310-52_7310-50delinsAAT) c.3278-52_3278-50delinsAAT (n.3278-52_3278-50delinsAAT) c.299-52_299-50delinsAAT (n.299-52_299-50delinsAAT) c.398-52_398-50delinsAAT (n.398-52_398-50delinsAAT) c.7298-52_7298-50delinsAAT (n.7298-52_7298-50delinsAAT) c.67-52_67-50delinsAAT (n.67-52_67-50delinsAAT) c.7295-52_7295-50delinsAAT (n.7295-52_7295-50delinsAAT) c.7307-52_7307-50delinsAAT (n.7307-52_7307-50delinsAAT) c.7286-52_7286-50delinsAAT (n.7286-52_7286-50delinsAAT) c.6941-52_6941-50delinsAAT (n.6941-52_6941-50delinsAAT) c.3287-52_3287-50delinsAAT (n.3287-52_3287-50delinsAAT) c.7181-52_7181-50delinsAAT (n.7181-52_7181-50delinsAAT) c.7172-52_7172-50delinsAAT (n.7172-52_7172-50delinsAAT) c.7187-52_7187-50delinsAAT (n.7187-52_7187-50delinsAAT) c.1484-52_1484-50delinsAAT (n.1484-52_1484-50delinsAAT) |