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.31774097C>A | CA412658998 | DMD | c.2251G>T (p.Val751Leu) c.25G>T (p.Val9Leu) n.1066G>T n.988G>T n.897G>T c.7405G>T (p.Val2469Leu) c.3373G>T (p.Val1125Leu) c.394G>T (p.Val132Leu) c.493G>T (p.Val165Leu) c.7393G>T (p.Val2465Leu) c.162G>T (n.162G>T) c.7390G>T (p.Val2464Leu) c.7402G>T (p.Val2468Leu) c.7381G>T (p.Val2461Leu) c.7036G>T (p.Val2346Leu) c.3382G>T (p.Val1128Leu) c.7276G>T (p.Val2426Leu) c.7267G>T (p.Val2423Leu) c.7282G>T (p.Val2428Leu) c.1579G>T (p.Val527Leu) | dbSNP |
X | g.31774097C>G | CA412658999 | DMD | c.2251G>C (p.Val751Leu) c.25G>C (p.Val9Leu) n.1066G>C n.988G>C n.897G>C c.7405G>C (p.Val2469Leu) c.3373G>C (p.Val1125Leu) c.394G>C (p.Val132Leu) c.493G>C (p.Val165Leu) c.7393G>C (p.Val2465Leu) c.162G>C (n.162G>C) c.7390G>C (p.Val2464Leu) c.7402G>C (p.Val2468Leu) c.7381G>C (p.Val2461Leu) c.7036G>C (p.Val2346Leu) c.3382G>C (p.Val1128Leu) c.7276G>C (p.Val2426Leu) c.7267G>C (p.Val2423Leu) c.7282G>C (p.Val2428Leu) c.1579G>C (p.Val527Leu) | |
X | g.31774097C>T | CA412658997 | DMD | c.2251G>A (p.Val751Ile) c.25G>A (p.Val9Ile) n.1066G>A n.988G>A n.897G>A c.7405G>A (p.Val2469Ile) c.3373G>A (p.Val1125Ile) c.394G>A (p.Val132Ile) c.493G>A (p.Val165Ile) c.7393G>A (p.Val2465Ile) c.162G>A (n.162G>A) c.7390G>A (p.Val2464Ile) c.7402G>A (p.Val2468Ile) c.7381G>A (p.Val2461Ile) c.7036G>A (p.Val2346Ile) c.3382G>A (p.Val1128Ile) c.7276G>A (p.Val2426Ile) c.7267G>A (p.Val2423Ile) c.7282G>A (p.Val2428Ile) c.1579G>A (p.Val527Ile) | |
X | g.31774098C>A | CA412659000 | DMD | c.2250G>T (p.Glu750Asp) c.24G>T (p.Glu8Asp) n.1065G>T n.987G>T n.896G>T c.7404G>T (p.Glu2468Asp) c.3372G>T (p.Glu1124Asp) c.393G>T (p.Glu131Asp) c.492G>T (p.Glu164Asp) c.7392G>T (p.Glu2464Asp) c.161G>T (n.161G>T) c.7389G>T (p.Glu2463Asp) c.7401G>T (p.Glu2467Asp) c.7380G>T (p.Glu2460Asp) c.7035G>T (p.Glu2345Asp) c.3381G>T (p.Glu1127Asp) c.7275G>T (p.Glu2425Asp) c.7266G>T (p.Glu2422Asp) c.7281G>T (p.Glu2427Asp) c.1578G>T (p.Glu526Asp) | |
X | g.31774098C= | CA2422548652 | DMD | c.2250G= (p.Glu750=) c.24G= (p.Glu8=) n.1065G= n.987G= n.896G= c.7404G= (p.Glu2468=) c.3372G= (p.Glu1124=) c.393G= (p.Glu131=) c.492G= (p.Glu164=) c.7392G= (p.Glu2464=) c.161G= (n.161G=) c.7389G= (p.Glu2463=) c.7401G= (p.Glu2467=) c.7380G= (p.Glu2460=) c.7035G= (p.Glu2345=) c.3381G= (p.Glu1127=) c.7275G= (p.Glu2425=) c.7266G= (p.Glu2422=) c.7281G= (p.Glu2427=) c.1578G= (p.Glu526=) | |
X | g.31774098C>G | CA412659001 | DMD | c.2250G>C (p.Glu750Asp) c.24G>C (p.Glu8Asp) n.1065G>C n.987G>C n.896G>C c.7404G>C (p.Glu2468Asp) c.3372G>C (p.Glu1124Asp) c.393G>C (p.Glu131Asp) c.492G>C (p.Glu164Asp) c.7392G>C (p.Glu2464Asp) c.161G>C (n.161G>C) c.7389G>C (p.Glu2463Asp) c.7401G>C (p.Glu2467Asp) c.7380G>C (p.Glu2460Asp) c.7035G>C (p.Glu2345Asp) c.3381G>C (p.Glu1127Asp) c.7275G>C (p.Glu2425Asp) c.7266G>C (p.Glu2422Asp) c.7281G>C (p.Glu2427Asp) c.1578G>C (p.Glu526Asp) | |
X | g.31774098C>T | CA515859374 | DMD | c.2250G>A (p.Glu750=) c.24G>A (p.Glu8=) n.1065G>A n.987G>A n.896G>A c.7404G>A (p.Glu2468=) c.3372G>A (p.Glu1124=) c.393G>A (p.Glu131=) c.492G>A (p.Glu164=) c.7392G>A (p.Glu2464=) c.161G>A (n.161G>A) c.7389G>A (p.Glu2463=) c.7401G>A (p.Glu2467=) c.7380G>A (p.Glu2460=) c.7035G>A (p.Glu2345=) c.3381G>A (p.Glu1127=) c.7275G>A (p.Glu2425=) c.7266G>A (p.Glu2422=) c.7281G>A (p.Glu2427=) c.1578G>A (p.Glu526=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.31774099T>A | CA412659002 | DMD | c.2249A>T (p.Glu750Val) c.23A>T (p.Glu8Val) n.1064A>T n.986A>T n.895A>T c.7403A>T (p.Glu2468Val) c.3371A>T (p.Glu1124Val) c.392A>T (p.Glu131Val) c.491A>T (p.Glu164Val) c.7391A>T (p.Glu2464Val) c.160A>T (n.160A>T) c.7388A>T (p.Glu2463Val) c.7400A>T (p.Glu2467Val) c.7379A>T (p.Glu2460Val) c.7034A>T (p.Glu2345Val) c.3380A>T (p.Glu1127Val) c.7274A>T (p.Glu2425Val) c.7265A>T (p.Glu2422Val) c.7280A>T (p.Glu2427Val) c.1577A>T (p.Glu526Val) | |
X | g.31774099T>C | CA412659003 | DMD | c.2249A>G (p.Glu750Gly) c.23A>G (p.Glu8Gly) n.1064A>G n.986A>G n.895A>G c.7403A>G (p.Glu2468Gly) c.3371A>G (p.Glu1124Gly) c.392A>G (p.Glu131Gly) c.491A>G (p.Glu164Gly) c.7391A>G (p.Glu2464Gly) c.160A>G (n.160A>G) c.7388A>G (p.Glu2463Gly) c.7400A>G (p.Glu2467Gly) c.7379A>G (p.Glu2460Gly) c.7034A>G (p.Glu2345Gly) c.3380A>G (p.Glu1127Gly) c.7274A>G (p.Glu2425Gly) c.7265A>G (p.Glu2422Gly) c.7280A>G (p.Glu2427Gly) c.1577A>G (p.Glu526Gly) | |
X | g.31774099T>G | CA412659004 | DMD | c.2249A>C (p.Glu750Ala) c.23A>C (p.Glu8Ala) n.1064A>C n.986A>C n.895A>C c.7403A>C (p.Glu2468Ala) c.3371A>C (p.Glu1124Ala) c.392A>C (p.Glu131Ala) c.491A>C (p.Glu164Ala) c.7391A>C (p.Glu2464Ala) c.160A>C (n.160A>C) c.7388A>C (p.Glu2463Ala) c.7400A>C (p.Glu2467Ala) c.7379A>C (p.Glu2460Ala) c.7034A>C (p.Glu2345Ala) c.3380A>C (p.Glu1127Ala) c.7274A>C (p.Glu2425Ala) c.7265A>C (p.Glu2422Ala) c.7280A>C (p.Glu2427Ala) c.1577A>C (p.Glu526Ala) | |
X | g.31774100C>A | CA341073 | DMD | c.2248G>T (p.Glu750Ter) c.22G>T (p.Glu8Ter) n.1063G>T n.985G>T n.894G>T c.7402G>T (p.Glu2468Ter) c.3370G>T (p.Glu1124Ter) c.391G>T (p.Glu131Ter) c.490G>T (p.Glu164Ter) c.7390G>T (p.Glu2464Ter) c.159G>T (n.159G>T) c.7387G>T (p.Glu2463Ter) c.7399G>T (p.Glu2467Ter) c.7378G>T (p.Glu2460Ter) c.7033G>T (p.Glu2345Ter) c.3379G>T (p.Glu1127Ter) c.7273G>T (p.Glu2425Ter) c.7264G>T (p.Glu2422Ter) c.7279G>T (p.Glu2427Ter) c.1576G>T (p.Glu526Ter) | ClinVar dbSNP |
X | g.31774100C= | CA2422548653 | DMD | c.2248G= (p.Glu750=) c.22G= (p.Glu8=) n.1063G= n.985G= n.894G= c.7402G= (p.Glu2468=) c.3370G= (p.Glu1124=) c.391G= (p.Glu131=) c.490G= (p.Glu164=) c.7390G= (p.Glu2464=) c.159G= (n.159G=) c.7387G= (p.Glu2463=) c.7399G= (p.Glu2467=) c.7378G= (p.Glu2460=) c.7033G= (p.Glu2345=) c.3379G= (p.Glu1127=) c.7273G= (p.Glu2425=) c.7264G= (p.Glu2422=) c.7279G= (p.Glu2427=) c.1576G= (p.Glu526=) | |
X | g.31774100C>G | CA412659005 | DMD | c.2248G>C (p.Glu750Gln) c.22G>C (p.Glu8Gln) n.1063G>C n.985G>C n.894G>C c.7402G>C (p.Glu2468Gln) c.3370G>C (p.Glu1124Gln) c.391G>C (p.Glu131Gln) c.490G>C (p.Glu164Gln) c.7390G>C (p.Glu2464Gln) c.159G>C (n.159G>C) c.7387G>C (p.Glu2463Gln) c.7399G>C (p.Glu2467Gln) c.7378G>C (p.Glu2460Gln) c.7033G>C (p.Glu2345Gln) c.3379G>C (p.Glu1127Gln) c.7273G>C (p.Glu2425Gln) c.7264G>C (p.Glu2422Gln) c.7279G>C (p.Glu2427Gln) c.1576G>C (p.Glu526Gln) | ClinVar dbSNP |
X | g.31774100C>T | CA412659006 | DMD | c.2248G>A (p.Glu750Lys) c.22G>A (p.Glu8Lys) n.1063G>A n.985G>A n.894G>A c.7402G>A (p.Glu2468Lys) c.3370G>A (p.Glu1124Lys) c.391G>A (p.Glu131Lys) c.490G>A (p.Glu164Lys) c.7390G>A (p.Glu2464Lys) c.159G>A (n.159G>A) c.7387G>A (p.Glu2463Lys) c.7399G>A (p.Glu2467Lys) c.7378G>A (p.Glu2460Lys) c.7033G>A (p.Glu2345Lys) c.3379G>A (p.Glu1127Lys) c.7273G>A (p.Glu2425Lys) c.7264G>A (p.Glu2422Lys) c.7279G>A (p.Glu2427Lys) c.1576G>A (p.Glu526Lys) | |
X | g.31774100_31774101delinsAT | CA2695232450 | DMD | c.2247_2248delinsAT (p.Leu750Ter) c.21_22delinsAT (p.Leu8Ter) n.1062_1063delinsAT n.984_985delinsAT n.893_894delinsAT c.7401_7402delinsAT (p.Leu2468Ter) c.3369_3370delinsAT (p.Leu1124Ter) c.390_391delinsAT (p.Leu131Ter) c.489_490delinsAT (p.Leu164Ter) c.7389_7390delinsAT (p.Leu2464Ter) c.158_159delinsAT (n.158_159delinsAT) c.7386_7387delinsAT (p.Leu2463Ter) c.7398_7399delinsAT (p.Leu2467Ter) c.7377_7378delinsAT (p.Leu2460Ter) c.7032_7033delinsAT (p.Leu2345Ter) c.3378_3379delinsAT (p.Leu1127Ter) c.7272_7273delinsAT (p.Leu2425Ter) c.7263_7264delinsAT (p.Leu2422Ter) c.7278_7279delinsAT (p.Leu2427Ter) c.1575_1576delinsAT (p.Leu526Ter) | |
X | g.31774101del | CA1132108675 | DMD | c.2248del (p.Glu750ArgfsTer26) c.22del (p.Glu8ArgfsTer26) n.1063del n.985del n.894del c.7402del (p.Glu2468ArgfsTer26) c.3370del (p.Glu1124ArgfsTer26) c.391del (p.Glu131ArgfsTer26) c.490del (p.Glu164ArgfsTer26) c.7390del (p.Glu2464ArgfsTer26) c.159del (n.159del) c.7387del (p.Glu2463ArgfsTer26) c.7399del (p.Glu2467ArgfsTer26) c.7378del (p.Glu2460ArgfsTer26) c.7033del (p.Glu2345ArgfsTer26) c.3379del (p.Glu1127ArgfsTer26) c.7273del (p.Glu2425ArgfsTer26) c.7264del (p.Glu2422ArgfsTer26) c.7279del (p.Glu2427ArgfsTer26) c.1576del (p.Glu526ArgfsTer26) | gnomAD v3 gnomAD v4 |
X | g.31774101C>A | CA412659007 | DMD | c.2247G>T (p.Leu749Phe) c.21G>T (p.Leu7Phe) n.1062G>T n.984G>T n.893G>T c.7401G>T (p.Leu2467Phe) c.3369G>T (p.Leu1123Phe) c.390G>T (p.Leu130Phe) c.489G>T (p.Leu163Phe) c.7389G>T (p.Leu2463Phe) c.158G>T (n.158G>T) c.7386G>T (p.Leu2462Phe) c.7398G>T (p.Leu2466Phe) c.7377G>T (p.Leu2459Phe) c.7032G>T (p.Leu2344Phe) c.3378G>T (p.Leu1126Phe) c.7272G>T (p.Leu2424Phe) c.7263G>T (p.Leu2421Phe) c.7278G>T (p.Leu2426Phe) c.1575G>T (p.Leu525Phe) | |
X | g.31774101C>G | CA412659008 | DMD | c.2247G>C (p.Leu749Phe) c.21G>C (p.Leu7Phe) n.1062G>C n.984G>C n.893G>C c.7401G>C (p.Leu2467Phe) c.3369G>C (p.Leu1123Phe) c.390G>C (p.Leu130Phe) c.489G>C (p.Leu163Phe) c.7389G>C (p.Leu2463Phe) c.158G>C (n.158G>C) c.7386G>C (p.Leu2462Phe) c.7398G>C (p.Leu2466Phe) c.7377G>C (p.Leu2459Phe) c.7032G>C (p.Leu2344Phe) c.3378G>C (p.Leu1126Phe) c.7272G>C (p.Leu2424Phe) c.7263G>C (p.Leu2421Phe) c.7278G>C (p.Leu2426Phe) c.1575G>C (p.Leu525Phe) | |
X | g.31774101C>T | CA515859375 | DMD | c.2247G>A (p.Leu749=) c.21G>A (p.Leu7=) n.1062G>A n.984G>A n.893G>A c.7401G>A (p.Leu2467=) c.3369G>A (p.Leu1123=) c.390G>A (p.Leu130=) c.489G>A (p.Leu163=) c.7389G>A (p.Leu2463=) c.158G>A (n.158G>A) c.7386G>A (p.Leu2462=) c.7398G>A (p.Leu2466=) c.7377G>A (p.Leu2459=) c.7032G>A (p.Leu2344=) c.3378G>A (p.Leu1126=) c.7272G>A (p.Leu2424=) c.7263G>A (p.Leu2421=) c.7278G>A (p.Leu2426=) c.1575G>A (p.Leu525=) | |
X | g.31774102A= | CA2422548654 | DMD | c.2246T= (p.Leu749=) c.20T= (p.Leu7=) n.1061T= n.983T= n.892T= c.7400T= (p.Leu2467=) c.3368T= (p.Leu1123=) c.389T= (p.Leu130=) c.488T= (p.Leu163=) c.7388T= (p.Leu2463=) c.157T= (n.157T=) c.7385T= (p.Leu2462=) c.7397T= (p.Leu2466=) c.7376T= (p.Leu2459=) c.7031T= (p.Leu2344=) c.3377T= (p.Leu1126=) c.7271T= (p.Leu2424=) c.7262T= (p.Leu2421=) c.7277T= (p.Leu2426=) c.1574T= (p.Leu525=) | |
X | g.31774102A>C | CA412659009 | DMD | c.2246T>G (p.Leu749Trp) c.20T>G (p.Leu7Trp) n.1061T>G n.983T>G n.892T>G c.7400T>G (p.Leu2467Trp) c.3368T>G (p.Leu1123Trp) c.389T>G (p.Leu130Trp) c.488T>G (p.Leu163Trp) c.7388T>G (p.Leu2463Trp) c.157T>G (n.157T>G) c.7385T>G (p.Leu2462Trp) c.7397T>G (p.Leu2466Trp) c.7376T>G (p.Leu2459Trp) c.7031T>G (p.Leu2344Trp) c.3377T>G (p.Leu1126Trp) c.7271T>G (p.Leu2424Trp) c.7262T>G (p.Leu2421Trp) c.7277T>G (p.Leu2426Trp) c.1574T>G (p.Leu525Trp) | |
X | g.31774102A>G | CA412659010 | DMD | c.2246T>C (p.Leu749Ser) c.20T>C (p.Leu7Ser) n.1061T>C n.983T>C n.892T>C c.7400T>C (p.Leu2467Ser) c.3368T>C (p.Leu1123Ser) c.389T>C (p.Leu130Ser) c.488T>C (p.Leu163Ser) c.7388T>C (p.Leu2463Ser) c.157T>C (n.157T>C) c.7385T>C (p.Leu2462Ser) c.7397T>C (p.Leu2466Ser) c.7376T>C (p.Leu2459Ser) c.7031T>C (p.Leu2344Ser) c.3377T>C (p.Leu1126Ser) c.7271T>C (p.Leu2424Ser) c.7262T>C (p.Leu2421Ser) c.7277T>C (p.Leu2426Ser) c.1574T>C (p.Leu525Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774102A>T | CA412659011 | DMD | c.2246T>A (p.Leu749Ter) c.20T>A (p.Leu7Ter) n.1061T>A n.983T>A n.892T>A c.7400T>A (p.Leu2467Ter) c.3368T>A (p.Leu1123Ter) c.389T>A (p.Leu130Ter) c.488T>A (p.Leu163Ter) c.7388T>A (p.Leu2463Ter) c.157T>A (n.157T>A) c.7385T>A (p.Leu2462Ter) c.7397T>A (p.Leu2466Ter) c.7376T>A (p.Leu2459Ter) c.7031T>A (p.Leu2344Ter) c.3377T>A (p.Leu1126Ter) c.7271T>A (p.Leu2424Ter) c.7262T>A (p.Leu2421Ter) c.7277T>A (p.Leu2426Ter) c.1574T>A (p.Leu525Ter) | ClinVar dbSNP |
X | g.31774103del | CA2695232452 | DMD | c.2246del (p.Leu749TrpfsTer27) c.20del (p.Leu7TrpfsTer27) n.1061del n.983del n.892del c.7400del (p.Leu2467TrpfsTer27) c.3368del (p.Leu1123TrpfsTer27) c.389del (p.Leu130TrpfsTer27) c.488del (p.Leu163TrpfsTer27) c.7388del (p.Leu2463TrpfsTer27) c.157del (n.157del) c.7385del (p.Leu2462TrpfsTer27) c.7397del (p.Leu2466TrpfsTer27) c.7376del (p.Leu2459TrpfsTer27) c.7031del (p.Leu2344TrpfsTer27) c.3377del (p.Leu1126TrpfsTer27) c.7271del (p.Leu2424TrpfsTer27) c.7262del (p.Leu2421TrpfsTer27) c.7277del (p.Leu2426TrpfsTer27) c.1574del (p.Leu525TrpfsTer27) | |
X | g.31774103A>C | CA412659012 | DMD | c.2245T>G (p.Leu749Val) c.19T>G (p.Leu7Val) n.1060T>G n.982T>G n.891T>G c.7399T>G (p.Leu2467Val) c.3367T>G (p.Leu1123Val) c.388T>G (p.Leu130Val) c.487T>G (p.Leu163Val) c.7387T>G (p.Leu2463Val) c.156T>G (n.156T>G) c.7384T>G (p.Leu2462Val) c.7396T>G (p.Leu2466Val) c.7375T>G (p.Leu2459Val) c.7030T>G (p.Leu2344Val) c.3376T>G (p.Leu1126Val) c.7270T>G (p.Leu2424Val) c.7261T>G (p.Leu2421Val) c.7276T>G (p.Leu2426Val) c.1573T>G (p.Leu525Val) | |
X | g.31774103A>G | CA515859376 | DMD | c.2245T>C (p.Leu749=) c.19T>C (p.Leu7=) n.1060T>C n.982T>C n.891T>C c.7399T>C (p.Leu2467=) c.3367T>C (p.Leu1123=) c.388T>C (p.Leu130=) c.487T>C (p.Leu163=) c.7387T>C (p.Leu2463=) c.156T>C (n.156T>C) c.7384T>C (p.Leu2462=) c.7396T>C (p.Leu2466=) c.7375T>C (p.Leu2459=) c.7030T>C (p.Leu2344=) c.3376T>C (p.Leu1126=) c.7270T>C (p.Leu2424=) c.7261T>C (p.Leu2421=) c.7276T>C (p.Leu2426=) c.1573T>C (p.Leu525=) | ClinVar |
X | g.31774103A>T | CA412659013 | DMD | c.2245T>A (p.Leu749Met) c.19T>A (p.Leu7Met) n.1060T>A n.982T>A n.891T>A c.7399T>A (p.Leu2467Met) c.3367T>A (p.Leu1123Met) c.388T>A (p.Leu130Met) c.487T>A (p.Leu163Met) c.7387T>A (p.Leu2463Met) c.156T>A (n.156T>A) c.7384T>A (p.Leu2462Met) c.7396T>A (p.Leu2466Met) c.7375T>A (p.Leu2459Met) c.7030T>A (p.Leu2344Met) c.3376T>A (p.Leu1126Met) c.7270T>A (p.Leu2424Met) c.7261T>A (p.Leu2421Met) c.7276T>A (p.Leu2426Met) c.1573T>A (p.Leu525Met) | |
X | g.31774104del | CA2739268133 | DMD | c.2244del (p.Met748IlefsTer28) c.18del (p.Met6IlefsTer28) n.1059del n.981del n.890del c.7398del (p.Met2466IlefsTer28) c.3366del (p.Met1122IlefsTer28) c.387del (p.Met129IlefsTer28) c.486del (p.Met162IlefsTer28) c.7386del (p.Met2462IlefsTer28) c.155del (n.155del) c.7383del (p.Met2461IlefsTer28) c.7395del (p.Met2465IlefsTer28) c.7374del (p.Met2458IlefsTer28) c.7029del (p.Met2343IlefsTer28) c.3375del (p.Met1125IlefsTer28) c.7269del (p.Met2423IlefsTer28) c.7260del (p.Met2420IlefsTer28) c.7275del (p.Met2425IlefsTer28) c.1572del (p.Met524IlefsTer28) | ClinVar |
X | g.31774104C>A | CA412659016 | DMD | c.2244G>T (p.Met748Ile) c.18G>T (p.Met6Ile) n.1059G>T n.981G>T n.890G>T c.7398G>T (p.Met2466Ile) c.3366G>T (p.Met1122Ile) c.387G>T (p.Met129Ile) c.486G>T (p.Met162Ile) c.7386G>T (p.Met2462Ile) c.155G>T (n.155G>T) c.7383G>T (p.Met2461Ile) c.7395G>T (p.Met2465Ile) c.7374G>T (p.Met2458Ile) c.7029G>T (p.Met2343Ile) c.3375G>T (p.Met1125Ile) c.7269G>T (p.Met2423Ile) c.7260G>T (p.Met2420Ile) c.7275G>T (p.Met2425Ile) c.1572G>T (p.Met524Ile) | |
X | g.31774104C>G | CA412659014 | DMD | c.2244G>C (p.Met748Ile) c.18G>C (p.Met6Ile) n.1059G>C n.981G>C n.890G>C c.7398G>C (p.Met2466Ile) c.3366G>C (p.Met1122Ile) c.387G>C (p.Met129Ile) c.486G>C (p.Met162Ile) c.7386G>C (p.Met2462Ile) c.155G>C (n.155G>C) c.7383G>C (p.Met2461Ile) c.7395G>C (p.Met2465Ile) c.7374G>C (p.Met2458Ile) c.7029G>C (p.Met2343Ile) c.3375G>C (p.Met1125Ile) c.7269G>C (p.Met2423Ile) c.7260G>C (p.Met2420Ile) c.7275G>C (p.Met2425Ile) c.1572G>C (p.Met524Ile) | |
X | g.31774104C>T | CA412659015 | DMD | c.2244G>A (p.Met748Ile) c.18G>A (p.Met6Ile) n.1059G>A n.981G>A n.890G>A c.7398G>A (p.Met2466Ile) c.3366G>A (p.Met1122Ile) c.387G>A (p.Met129Ile) c.486G>A (p.Met162Ile) c.7386G>A (p.Met2462Ile) c.155G>A (n.155G>A) c.7383G>A (p.Met2461Ile) c.7395G>A (p.Met2465Ile) c.7374G>A (p.Met2458Ile) c.7029G>A (p.Met2343Ile) c.3375G>A (p.Met1125Ile) c.7269G>A (p.Met2423Ile) c.7260G>A (p.Met2420Ile) c.7275G>A (p.Met2425Ile) c.1572G>A (p.Met524Ile) | |
X | g.31774105A= | CA2422548655 | DMD | c.2243T= (p.Met748=) c.17T= (p.Met6=) n.1058T= n.980T= n.889T= c.7397T= (p.Met2466=) c.3365T= (p.Met1122=) c.386T= (p.Met129=) c.485T= (p.Met162=) c.7385T= (p.Met2462=) c.154T= (n.154T=) c.7382T= (p.Met2461=) c.7394T= (p.Met2465=) c.7373T= (p.Met2458=) c.7028T= (p.Met2343=) c.3374T= (p.Met1125=) c.7268T= (p.Met2423=) c.7259T= (p.Met2420=) c.7274T= (p.Met2425=) c.1571T= (p.Met524=) | |
X | g.31774105A>C | CA412659017 | DMD | c.2243T>G (p.Met748Arg) c.17T>G (p.Met6Arg) n.1058T>G n.980T>G n.889T>G c.7397T>G (p.Met2466Arg) c.3365T>G (p.Met1122Arg) c.386T>G (p.Met129Arg) c.485T>G (p.Met162Arg) c.7385T>G (p.Met2462Arg) c.154T>G (n.154T>G) c.7382T>G (p.Met2461Arg) c.7394T>G (p.Met2465Arg) c.7373T>G (p.Met2458Arg) c.7028T>G (p.Met2343Arg) c.3374T>G (p.Met1125Arg) c.7268T>G (p.Met2423Arg) c.7259T>G (p.Met2420Arg) c.7274T>G (p.Met2425Arg) c.1571T>G (p.Met524Arg) | |
X | g.31774105A>G | CA10378281 | DMD | c.2243T>C (p.Met748Thr) c.17T>C (p.Met6Thr) n.1058T>C n.980T>C n.889T>C c.7397T>C (p.Met2466Thr) c.3365T>C (p.Met1122Thr) c.386T>C (p.Met129Thr) c.485T>C (p.Met162Thr) c.7385T>C (p.Met2462Thr) c.154T>C (n.154T>C) c.7382T>C (p.Met2461Thr) c.7394T>C (p.Met2465Thr) c.7373T>C (p.Met2458Thr) c.7028T>C (p.Met2343Thr) c.3374T>C (p.Met1125Thr) c.7268T>C (p.Met2423Thr) c.7259T>C (p.Met2420Thr) c.7274T>C (p.Met2425Thr) c.1571T>C (p.Met524Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774105A>T | CA412659018 | DMD | c.2243T>A (p.Met748Lys) c.17T>A (p.Met6Lys) n.1058T>A n.980T>A n.889T>A c.7397T>A (p.Met2466Lys) c.3365T>A (p.Met1122Lys) c.386T>A (p.Met129Lys) c.485T>A (p.Met162Lys) c.7385T>A (p.Met2462Lys) c.154T>A (n.154T>A) c.7382T>A (p.Met2461Lys) c.7394T>A (p.Met2465Lys) c.7373T>A (p.Met2458Lys) c.7028T>A (p.Met2343Lys) c.3374T>A (p.Met1125Lys) c.7268T>A (p.Met2423Lys) c.7259T>A (p.Met2420Lys) c.7274T>A (p.Met2425Lys) c.1571T>A (p.Met524Lys) | gnomAD v4 |
X | g.31774106T>A | CA412659019 | DMD | c.2242A>T (p.Met748Leu) c.16A>T (p.Met6Leu) n.1057A>T n.979A>T n.888A>T c.7396A>T (p.Met2466Leu) c.3364A>T (p.Met1122Leu) c.385A>T (p.Met129Leu) c.484A>T (p.Met162Leu) c.7384A>T (p.Met2462Leu) c.153A>T (n.153A>T) c.7381A>T (p.Met2461Leu) c.7393A>T (p.Met2465Leu) c.7372A>T (p.Met2458Leu) c.7027A>T (p.Met2343Leu) c.3373A>T (p.Met1125Leu) c.7267A>T (p.Met2423Leu) c.7258A>T (p.Met2420Leu) c.7273A>T (p.Met2425Leu) c.1570A>T (p.Met524Leu) | |
X | g.31774106T>C | CA412659020 | DMD | c.2242A>G (p.Met748Val) c.16A>G (p.Met6Val) n.1057A>G n.979A>G n.888A>G c.7396A>G (p.Met2466Val) c.3364A>G (p.Met1122Val) c.385A>G (p.Met129Val) c.484A>G (p.Met162Val) c.7384A>G (p.Met2462Val) c.153A>G (n.153A>G) c.7381A>G (p.Met2461Val) c.7393A>G (p.Met2465Val) c.7372A>G (p.Met2458Val) c.7027A>G (p.Met2343Val) c.3373A>G (p.Met1125Val) c.7267A>G (p.Met2423Val) c.7258A>G (p.Met2420Val) c.7273A>G (p.Met2425Val) c.1570A>G (p.Met524Val) | |
X | g.31774106T>G | CA412659021 | DMD | c.2242A>C (p.Met748Leu) c.16A>C (p.Met6Leu) n.1057A>C n.979A>C n.888A>C c.7396A>C (p.Met2466Leu) c.3364A>C (p.Met1122Leu) c.385A>C (p.Met129Leu) c.484A>C (p.Met162Leu) c.7384A>C (p.Met2462Leu) c.153A>C (n.153A>C) c.7381A>C (p.Met2461Leu) c.7393A>C (p.Met2465Leu) c.7372A>C (p.Met2458Leu) c.7027A>C (p.Met2343Leu) c.3373A>C (p.Met1125Leu) c.7267A>C (p.Met2423Leu) c.7258A>C (p.Met2420Leu) c.7273A>C (p.Met2425Leu) c.1570A>C (p.Met524Leu) | |
X | g.31774107del | CA2580100608 | DMD | c.2241del (p.Met748CysfsTer28) c.15del (p.Met6CysfsTer28) n.1056del n.978del n.887del c.7395del (p.Met2466CysfsTer28) c.3363del (p.Met1122CysfsTer28) c.384del (p.Met129CysfsTer28) c.483del (p.Met162CysfsTer28) c.7383del (p.Met2462CysfsTer28) c.152del (n.152del) c.7380del (p.Met2461CysfsTer28) c.7392del (p.Met2465CysfsTer28) c.7371del (p.Met2458CysfsTer28) c.7026del (p.Met2343CysfsTer28) c.3372del (p.Met1125CysfsTer28) c.7266del (p.Met2423CysfsTer28) c.7257del (p.Met2420CysfsTer28) c.7272del (p.Met2425CysfsTer28) c.1569del (p.Met524CysfsTer28) | ClinVar dbSNP |
X | g.31774107C>A | CA412659022 | DMD | c.2241G>T (p.Leu747Phe) c.15G>T (p.Leu5Phe) n.1056G>T n.978G>T n.887G>T c.7395G>T (p.Leu2465Phe) c.3363G>T (p.Leu1121Phe) c.384G>T (p.Leu128Phe) c.483G>T (p.Leu161Phe) c.7383G>T (p.Leu2461Phe) c.152G>T (n.152G>T) c.7380G>T (p.Leu2460Phe) c.7392G>T (p.Leu2464Phe) c.7371G>T (p.Leu2457Phe) c.7026G>T (p.Leu2342Phe) c.3372G>T (p.Leu1124Phe) c.7266G>T (p.Leu2422Phe) c.7257G>T (p.Leu2419Phe) c.7272G>T (p.Leu2424Phe) c.1569G>T (p.Leu523Phe) | COSMIC COSMIC COSMIC COSMIC |
X | g.31774107C>G | CA412659023 | DMD | c.2241G>C (p.Leu747Phe) c.15G>C (p.Leu5Phe) n.1056G>C n.978G>C n.887G>C c.7395G>C (p.Leu2465Phe) c.3363G>C (p.Leu1121Phe) c.384G>C (p.Leu128Phe) c.483G>C (p.Leu161Phe) c.7383G>C (p.Leu2461Phe) c.152G>C (n.152G>C) c.7380G>C (p.Leu2460Phe) c.7392G>C (p.Leu2464Phe) c.7371G>C (p.Leu2457Phe) c.7026G>C (p.Leu2342Phe) c.3372G>C (p.Leu1124Phe) c.7266G>C (p.Leu2422Phe) c.7257G>C (p.Leu2419Phe) c.7272G>C (p.Leu2424Phe) c.1569G>C (p.Leu523Phe) | |
X | g.31774107C>T | CA515859377 | DMD | c.2241G>A (p.Leu747=) c.15G>A (p.Leu5=) n.1056G>A n.978G>A n.887G>A c.7395G>A (p.Leu2465=) c.3363G>A (p.Leu1121=) c.384G>A (p.Leu128=) c.483G>A (p.Leu161=) c.7383G>A (p.Leu2461=) c.152G>A (n.152G>A) c.7380G>A (p.Leu2460=) c.7392G>A (p.Leu2464=) c.7371G>A (p.Leu2457=) c.7026G>A (p.Leu2342=) c.3372G>A (p.Leu1124=) c.7266G>A (p.Leu2422=) c.7257G>A (p.Leu2419=) c.7272G>A (p.Leu2424=) c.1569G>A (p.Leu523=) | |
X | g.31774108A>C | CA412659024 | DMD | c.2240T>G (p.Leu747Trp) c.14T>G (p.Leu5Trp) n.1055T>G n.977T>G n.886T>G c.7394T>G (p.Leu2465Trp) c.3362T>G (p.Leu1121Trp) c.383T>G (p.Leu128Trp) c.482T>G (p.Leu161Trp) c.7382T>G (p.Leu2461Trp) c.151T>G (n.151T>G) c.7379T>G (p.Leu2460Trp) c.7391T>G (p.Leu2464Trp) c.7370T>G (p.Leu2457Trp) c.7025T>G (p.Leu2342Trp) c.3371T>G (p.Leu1124Trp) c.7265T>G (p.Leu2422Trp) c.7256T>G (p.Leu2419Trp) c.7271T>G (p.Leu2424Trp) c.1568T>G (p.Leu523Trp) | |
X | g.31774108A>G | CA412659025 | DMD | c.2240T>C (p.Leu747Ser) c.14T>C (p.Leu5Ser) n.1055T>C n.977T>C n.886T>C c.7394T>C (p.Leu2465Ser) c.3362T>C (p.Leu1121Ser) c.383T>C (p.Leu128Ser) c.482T>C (p.Leu161Ser) c.7382T>C (p.Leu2461Ser) c.151T>C (n.151T>C) c.7379T>C (p.Leu2460Ser) c.7391T>C (p.Leu2464Ser) c.7370T>C (p.Leu2457Ser) c.7025T>C (p.Leu2342Ser) c.3371T>C (p.Leu1124Ser) c.7265T>C (p.Leu2422Ser) c.7256T>C (p.Leu2419Ser) c.7271T>C (p.Leu2424Ser) c.1568T>C (p.Leu523Ser) | |
X | g.31774108A>T | CA412659026 | DMD | c.2240T>A (p.Leu747Ter) c.14T>A (p.Leu5Ter) n.1055T>A n.977T>A n.886T>A c.7394T>A (p.Leu2465Ter) c.3362T>A (p.Leu1121Ter) c.383T>A (p.Leu128Ter) c.482T>A (p.Leu161Ter) c.7382T>A (p.Leu2461Ter) c.151T>A (n.151T>A) c.7379T>A (p.Leu2460Ter) c.7391T>A (p.Leu2464Ter) c.7370T>A (p.Leu2457Ter) c.7025T>A (p.Leu2342Ter) c.3371T>A (p.Leu1124Ter) c.7265T>A (p.Leu2422Ter) c.7256T>A (p.Leu2419Ter) c.7271T>A (p.Leu2424Ter) c.1568T>A (p.Leu523Ter) | |
X | g.31774111_31774114del | CA2695232457 | DMD | c.2237_2240del (p.Ser746Ter) c.11_14del (p.Ser4Ter) n.1052_1055del n.974_977del n.883_886del c.7391_7394del (p.Ser2464Ter) c.3359_3362del (p.Ser1120Ter) c.380_383del (p.Ser127Ter) c.479_482del (p.Ser160Ter) c.7379_7382del (p.Ser2460Ter) c.148_151del (n.148_151del) c.7376_7379del (p.Ser2459Ter) c.7388_7391del (p.Ser2463Ter) c.7367_7370del (p.Ser2456Ter) c.7022_7025del (p.Ser2341Ter) c.3368_3371del (p.Ser1123Ter) c.7262_7265del (p.Ser2421Ter) c.7253_7256del (p.Ser2418Ter) c.7268_7271del (p.Ser2423Ter) c.1565_1568del (p.Ser522Ter) | |
X | g.31774109A>C | CA412659027 | DMD | c.2239T>G (p.Leu747Val) c.13T>G (p.Leu5Val) n.1054T>G n.976T>G n.885T>G c.7393T>G (p.Leu2465Val) c.3361T>G (p.Leu1121Val) c.382T>G (p.Leu128Val) c.481T>G (p.Leu161Val) c.7381T>G (p.Leu2461Val) c.150T>G (n.150T>G) c.7378T>G (p.Leu2460Val) c.7390T>G (p.Leu2464Val) c.7369T>G (p.Leu2457Val) c.7024T>G (p.Leu2342Val) c.3370T>G (p.Leu1124Val) c.7264T>G (p.Leu2422Val) c.7255T>G (p.Leu2419Val) c.7270T>G (p.Leu2424Val) c.1567T>G (p.Leu523Val) | |
X | g.31774109A>G | CA515859378 | DMD | c.2239T>C (p.Leu747=) c.13T>C (p.Leu5=) n.1054T>C n.976T>C n.885T>C c.7393T>C (p.Leu2465=) c.3361T>C (p.Leu1121=) c.382T>C (p.Leu128=) c.481T>C (p.Leu161=) c.7381T>C (p.Leu2461=) c.150T>C (n.150T>C) c.7378T>C (p.Leu2460=) c.7390T>C (p.Leu2464=) c.7369T>C (p.Leu2457=) c.7024T>C (p.Leu2342=) c.3370T>C (p.Leu1124=) c.7264T>C (p.Leu2422=) c.7255T>C (p.Leu2419=) c.7270T>C (p.Leu2424=) c.1567T>C (p.Leu523=) | gnomAD v4 |
X | g.31774109A>T | CA412659028 | DMD | c.2239T>A (p.Leu747Met) c.13T>A (p.Leu5Met) n.1054T>A n.976T>A n.885T>A c.7393T>A (p.Leu2465Met) c.3361T>A (p.Leu1121Met) c.382T>A (p.Leu128Met) c.481T>A (p.Leu161Met) c.7381T>A (p.Leu2461Met) c.150T>A (n.150T>A) c.7378T>A (p.Leu2460Met) c.7390T>A (p.Leu2464Met) c.7369T>A (p.Leu2457Met) c.7024T>A (p.Leu2342Met) c.3370T>A (p.Leu1124Met) c.7264T>A (p.Leu2422Met) c.7255T>A (p.Leu2419Met) c.7270T>A (p.Leu2424Met) c.1567T>A (p.Leu523Met) | |
X | g.31774110G>A | CA515859379 | DMD | c.2238C>T (p.Ser746=) c.12C>T (p.Ser4=) n.1053C>T n.975C>T n.884C>T c.7392C>T (p.Ser2464=) c.3360C>T (p.Ser1120=) c.381C>T (p.Ser127=) c.480C>T (p.Ser160=) c.7380C>T (p.Ser2460=) c.149C>T (n.149C>T) c.7377C>T (p.Ser2459=) c.7389C>T (p.Ser2463=) c.7368C>T (p.Ser2456=) c.7023C>T (p.Ser2341=) c.3369C>T (p.Ser1123=) c.7263C>T (p.Ser2421=) c.7254C>T (p.Ser2418=) c.7269C>T (p.Ser2423=) c.1566C>T (p.Ser522=) | ClinVar dbSNP |
X | g.31774110G>C | CA515859380 | DMD | c.2238C>G (p.Ser746=) c.12C>G (p.Ser4=) n.1053C>G n.975C>G n.884C>G c.7392C>G (p.Ser2464=) c.3360C>G (p.Ser1120=) c.381C>G (p.Ser127=) c.480C>G (p.Ser160=) c.7380C>G (p.Ser2460=) c.149C>G (n.149C>G) c.7377C>G (p.Ser2459=) c.7389C>G (p.Ser2463=) c.7368C>G (p.Ser2456=) c.7023C>G (p.Ser2341=) c.3369C>G (p.Ser1123=) c.7263C>G (p.Ser2421=) c.7254C>G (p.Ser2418=) c.7269C>G (p.Ser2423=) c.1566C>G (p.Ser522=) | |
X | g.31774110G= | CA2422548656 | DMD | c.2238C= (p.Ser746=) c.12C= (p.Ser4=) n.1053C= n.975C= n.884C= c.7392C= (p.Ser2464=) c.3360C= (p.Ser1120=) c.381C= (p.Ser127=) c.480C= (p.Ser160=) c.7380C= (p.Ser2460=) c.149C= (n.149C=) c.7377C= (p.Ser2459=) c.7389C= (p.Ser2463=) c.7368C= (p.Ser2456=) c.7023C= (p.Ser2341=) c.3369C= (p.Ser1123=) c.7263C= (p.Ser2421=) c.7254C= (p.Ser2418=) c.7269C= (p.Ser2423=) c.1566C= (p.Ser522=) | |
X | g.31774110G>T | CA515859381 | DMD | c.2238C>A (p.Ser746=) c.12C>A (p.Ser4=) n.1053C>A n.975C>A n.884C>A c.7392C>A (p.Ser2464=) c.3360C>A (p.Ser1120=) c.381C>A (p.Ser127=) c.480C>A (p.Ser160=) c.7380C>A (p.Ser2460=) c.149C>A (n.149C>A) c.7377C>A (p.Ser2459=) c.7389C>A (p.Ser2463=) c.7368C>A (p.Ser2456=) c.7023C>A (p.Ser2341=) c.3369C>A (p.Ser1123=) c.7263C>A (p.Ser2421=) c.7254C>A (p.Ser2418=) c.7269C>A (p.Ser2423=) c.1566C>A (p.Ser522=) | |
X | g.31774111G>A | CA412659029 | DMD | c.2237C>T (p.Ser746Phe) c.11C>T (p.Ser4Phe) n.1052C>T n.974C>T n.883C>T c.7391C>T (p.Ser2464Phe) c.3359C>T (p.Ser1120Phe) c.380C>T (p.Ser127Phe) c.479C>T (p.Ser160Phe) c.7379C>T (p.Ser2460Phe) c.148C>T (n.148C>T) c.7376C>T (p.Ser2459Phe) c.7388C>T (p.Ser2463Phe) c.7367C>T (p.Ser2456Phe) c.7022C>T (p.Ser2341Phe) c.3368C>T (p.Ser1123Phe) c.7262C>T (p.Ser2421Phe) c.7253C>T (p.Ser2418Phe) c.7268C>T (p.Ser2423Phe) c.1565C>T (p.Ser522Phe) | gnomAD v4 |
X | g.31774111G>C | CA412659031 | DMD | c.2237C>G (p.Ser746Cys) c.11C>G (p.Ser4Cys) n.1052C>G n.974C>G n.883C>G c.7391C>G (p.Ser2464Cys) c.3359C>G (p.Ser1120Cys) c.380C>G (p.Ser127Cys) c.479C>G (p.Ser160Cys) c.7379C>G (p.Ser2460Cys) c.148C>G (n.148C>G) c.7376C>G (p.Ser2459Cys) c.7388C>G (p.Ser2463Cys) c.7367C>G (p.Ser2456Cys) c.7022C>G (p.Ser2341Cys) c.3368C>G (p.Ser1123Cys) c.7262C>G (p.Ser2421Cys) c.7253C>G (p.Ser2418Cys) c.7268C>G (p.Ser2423Cys) c.1565C>G (p.Ser522Cys) | |
X | g.31774111G>T | CA412659030 | DMD | c.2237C>A (p.Ser746Tyr) c.11C>A (p.Ser4Tyr) n.1052C>A n.974C>A n.883C>A c.7391C>A (p.Ser2464Tyr) c.3359C>A (p.Ser1120Tyr) c.380C>A (p.Ser127Tyr) c.479C>A (p.Ser160Tyr) c.7379C>A (p.Ser2460Tyr) c.148C>A (n.148C>A) c.7376C>A (p.Ser2459Tyr) c.7388C>A (p.Ser2463Tyr) c.7367C>A (p.Ser2456Tyr) c.7022C>A (p.Ser2341Tyr) c.3368C>A (p.Ser1123Tyr) c.7262C>A (p.Ser2421Tyr) c.7253C>A (p.Ser2418Tyr) c.7268C>A (p.Ser2423Tyr) c.1565C>A (p.Ser522Tyr) | |
X | g.31774111_31774112delinsAT | CA2580100609 | DMD | c.2236_2237delinsAT (p.Ser746Ile) c.10_11delinsAT (p.Ser4Ile) n.1051_1052delinsAT n.973_974delinsAT n.882_883delinsAT c.7390_7391delinsAT (p.Ser2464Ile) c.3358_3359delinsAT (p.Ser1120Ile) c.379_380delinsAT (p.Ser127Ile) c.478_479delinsAT (p.Ser160Ile) c.7378_7379delinsAT (p.Ser2460Ile) c.147_148delinsAT (n.147_148delinsAT) c.7375_7376delinsAT (p.Ser2459Ile) c.7387_7388delinsAT (p.Ser2463Ile) c.7366_7367delinsAT (p.Ser2456Ile) c.7021_7022delinsAT (p.Ser2341Ile) c.3367_3368delinsAT (p.Ser1123Ile) c.7261_7262delinsAT (p.Ser2421Ile) c.7252_7253delinsAT (p.Ser2418Ile) c.7267_7268delinsAT (p.Ser2423Ile) c.1564_1565delinsAT (p.Ser522Ile) | ClinVar |
X | g.31774112A>C | CA412659032 | DMD | c.2236T>G (p.Ser746Ala) c.10T>G (p.Ser4Ala) n.1051T>G n.973T>G n.882T>G c.7390T>G (p.Ser2464Ala) c.3358T>G (p.Ser1120Ala) c.379T>G (p.Ser127Ala) c.478T>G (p.Ser160Ala) c.7378T>G (p.Ser2460Ala) c.147T>G (n.147T>G) c.7375T>G (p.Ser2459Ala) c.7387T>G (p.Ser2463Ala) c.7366T>G (p.Ser2456Ala) c.7021T>G (p.Ser2341Ala) c.3367T>G (p.Ser1123Ala) c.7261T>G (p.Ser2421Ala) c.7252T>G (p.Ser2418Ala) c.7267T>G (p.Ser2423Ala) c.1564T>G (p.Ser522Ala) | |
X | g.31774112A>G | CA412659033 | DMD | c.2236T>C (p.Ser746Pro) c.10T>C (p.Ser4Pro) n.1051T>C n.973T>C n.882T>C c.7390T>C (p.Ser2464Pro) c.3358T>C (p.Ser1120Pro) c.379T>C (p.Ser127Pro) c.478T>C (p.Ser160Pro) c.7378T>C (p.Ser2460Pro) c.147T>C (n.147T>C) c.7375T>C (p.Ser2459Pro) c.7387T>C (p.Ser2463Pro) c.7366T>C (p.Ser2456Pro) c.7021T>C (p.Ser2341Pro) c.3367T>C (p.Ser1123Pro) c.7261T>C (p.Ser2421Pro) c.7252T>C (p.Ser2418Pro) c.7267T>C (p.Ser2423Pro) c.1564T>C (p.Ser522Pro) | |
X | g.31774112A>T | CA412659034 | DMD | c.2236T>A (p.Ser746Thr) c.10T>A (p.Ser4Thr) n.1051T>A n.973T>A n.882T>A c.7390T>A (p.Ser2464Thr) c.3358T>A (p.Ser1120Thr) c.379T>A (p.Ser127Thr) c.478T>A (p.Ser160Thr) c.7378T>A (p.Ser2460Thr) c.147T>A (n.147T>A) c.7375T>A (p.Ser2459Thr) c.7387T>A (p.Ser2463Thr) c.7366T>A (p.Ser2456Thr) c.7021T>A (p.Ser2341Thr) c.3367T>A (p.Ser1123Thr) c.7261T>A (p.Ser2421Thr) c.7252T>A (p.Ser2418Thr) c.7267T>A (p.Ser2423Thr) c.1564T>A (p.Ser522Thr) | gnomAD v4 |
X | g.31774113A>C | CA515859382 | DMD | c.2235T>G (p.Ser745=) c.9T>G (p.Ser3=) n.1050T>G n.972T>G n.881T>G c.7389T>G (p.Ser2463=) c.3357T>G (p.Ser1119=) c.378T>G (p.Ser126=) c.477T>G (p.Ser159=) c.7377T>G (p.Ser2459=) c.146T>G (n.146T>G) c.7374T>G (p.Ser2458=) c.7386T>G (p.Ser2462=) c.7365T>G (p.Ser2455=) c.7020T>G (p.Ser2340=) c.3366T>G (p.Ser1122=) c.7260T>G (p.Ser2420=) c.7251T>G (p.Ser2417=) c.7266T>G (p.Ser2422=) c.1563T>G (p.Ser521=) | |
X | g.31774113A>G | CA515859383 | DMD | c.2235T>C (p.Ser745=) c.9T>C (p.Ser3=) n.1050T>C n.972T>C n.881T>C c.7389T>C (p.Ser2463=) c.3357T>C (p.Ser1119=) c.378T>C (p.Ser126=) c.477T>C (p.Ser159=) c.7377T>C (p.Ser2459=) c.146T>C (n.146T>C) c.7374T>C (p.Ser2458=) c.7386T>C (p.Ser2462=) c.7365T>C (p.Ser2455=) c.7020T>C (p.Ser2340=) c.3366T>C (p.Ser1122=) c.7260T>C (p.Ser2420=) c.7251T>C (p.Ser2417=) c.7266T>C (p.Ser2422=) c.1563T>C (p.Ser521=) | |
X | g.31774113A>T | CA515859384 | DMD | c.2235T>A (p.Ser745=) c.9T>A (p.Ser3=) n.1050T>A n.972T>A n.881T>A c.7389T>A (p.Ser2463=) c.3357T>A (p.Ser1119=) c.378T>A (p.Ser126=) c.477T>A (p.Ser159=) c.7377T>A (p.Ser2459=) c.146T>A (n.146T>A) c.7374T>A (p.Ser2458=) c.7386T>A (p.Ser2462=) c.7365T>A (p.Ser2455=) c.7020T>A (p.Ser2340=) c.3366T>A (p.Ser1122=) c.7260T>A (p.Ser2420=) c.7251T>A (p.Ser2417=) c.7266T>A (p.Ser2422=) c.1563T>A (p.Ser521=) | |
X | g.31774121_31774140del | CA2695232459 | DMD | c.2216_2235del (p.Ser739PhefsTer27) c.-11_9del n.1031_1050del n.953_972del n.862_881del c.7370_7389del (p.Ser2457PhefsTer27) c.3338_3357del (p.Ser1113PhefsTer27) c.359_378del (p.Ser120PhefsTer27) c.458_477del (p.Ser153PhefsTer27) c.7358_7377del (p.Ser2453PhefsTer27) c.127_146del (n.127_146del) c.7355_7374del (p.Ser2452PhefsTer27) c.7367_7386del (p.Ser2456PhefsTer27) c.7346_7365del (p.Ser2449PhefsTer27) c.7001_7020del (p.Ser2334PhefsTer27) c.3347_3366del (p.Ser1116PhefsTer27) c.7241_7260del (p.Ser2414PhefsTer27) c.7232_7251del (p.Ser2411PhefsTer27) c.7247_7266del (p.Ser2416PhefsTer27) c.1544_1563del (p.Ser515PhefsTer27) | |
X | g.31774114G>A | CA412659035 | DMD | c.2234C>T (p.Ser745Phe) c.8C>T (p.Ser3Phe) n.1049C>T n.971C>T n.880C>T c.7388C>T (p.Ser2463Phe) c.3356C>T (p.Ser1119Phe) c.377C>T (p.Ser126Phe) c.476C>T (p.Ser159Phe) c.7376C>T (p.Ser2459Phe) c.145C>T (n.145C>T) c.7373C>T (p.Ser2458Phe) c.7385C>T (p.Ser2462Phe) c.7364C>T (p.Ser2455Phe) c.7019C>T (p.Ser2340Phe) c.3365C>T (p.Ser1122Phe) c.7259C>T (p.Ser2420Phe) c.7250C>T (p.Ser2417Phe) c.7265C>T (p.Ser2422Phe) c.1562C>T (p.Ser521Phe) | |
X | g.31774114G>C | CA412659036 | DMD | c.2234C>G (p.Ser745Cys) c.8C>G (p.Ser3Cys) n.1049C>G n.971C>G n.880C>G c.7388C>G (p.Ser2463Cys) c.3356C>G (p.Ser1119Cys) c.377C>G (p.Ser126Cys) c.476C>G (p.Ser159Cys) c.7376C>G (p.Ser2459Cys) c.145C>G (n.145C>G) c.7373C>G (p.Ser2458Cys) c.7385C>G (p.Ser2462Cys) c.7364C>G (p.Ser2455Cys) c.7019C>G (p.Ser2340Cys) c.3365C>G (p.Ser1122Cys) c.7259C>G (p.Ser2420Cys) c.7250C>G (p.Ser2417Cys) c.7265C>G (p.Ser2422Cys) c.1562C>G (p.Ser521Cys) | |
X | g.31774114G>T | CA412659037 | DMD | c.2234C>A (p.Ser745Tyr) c.8C>A (p.Ser3Tyr) n.1049C>A n.971C>A n.880C>A c.7388C>A (p.Ser2463Tyr) c.3356C>A (p.Ser1119Tyr) c.377C>A (p.Ser126Tyr) c.476C>A (p.Ser159Tyr) c.7376C>A (p.Ser2459Tyr) c.145C>A (n.145C>A) c.7373C>A (p.Ser2458Tyr) c.7385C>A (p.Ser2462Tyr) c.7364C>A (p.Ser2455Tyr) c.7019C>A (p.Ser2340Tyr) c.3365C>A (p.Ser1122Tyr) c.7259C>A (p.Ser2420Tyr) c.7250C>A (p.Ser2417Tyr) c.7265C>A (p.Ser2422Tyr) c.1562C>A (p.Ser521Tyr) | |
X | g.31774115A>C | CA412659038 | DMD | c.2233T>G (p.Ser745Ala) c.7T>G (p.Ser3Ala) n.1048T>G n.970T>G n.879T>G c.7387T>G (p.Ser2463Ala) c.3355T>G (p.Ser1119Ala) c.376T>G (p.Ser126Ala) c.475T>G (p.Ser159Ala) c.7375T>G (p.Ser2459Ala) c.144T>G (n.144T>G) c.7372T>G (p.Ser2458Ala) c.7384T>G (p.Ser2462Ala) c.7363T>G (p.Ser2455Ala) c.7018T>G (p.Ser2340Ala) c.3364T>G (p.Ser1122Ala) c.7258T>G (p.Ser2420Ala) c.7249T>G (p.Ser2417Ala) c.7264T>G (p.Ser2422Ala) c.1561T>G (p.Ser521Ala) | |
X | g.31774115A>G | CA412659039 | DMD | c.2233T>C (p.Ser745Pro) c.7T>C (p.Ser3Pro) n.1048T>C n.970T>C n.879T>C c.7387T>C (p.Ser2463Pro) c.3355T>C (p.Ser1119Pro) c.376T>C (p.Ser126Pro) c.475T>C (p.Ser159Pro) c.7375T>C (p.Ser2459Pro) c.144T>C (n.144T>C) c.7372T>C (p.Ser2458Pro) c.7384T>C (p.Ser2462Pro) c.7363T>C (p.Ser2455Pro) c.7018T>C (p.Ser2340Pro) c.3364T>C (p.Ser1122Pro) c.7258T>C (p.Ser2420Pro) c.7249T>C (p.Ser2417Pro) c.7264T>C (p.Ser2422Pro) c.1561T>C (p.Ser521Pro) | |
X | g.31774115A>T | CA412659040 | DMD | c.2233T>A (p.Ser745Thr) c.7T>A (p.Ser3Thr) n.1048T>A n.970T>A n.879T>A c.7387T>A (p.Ser2463Thr) c.3355T>A (p.Ser1119Thr) c.376T>A (p.Ser126Thr) c.475T>A (p.Ser159Thr) c.7375T>A (p.Ser2459Thr) c.144T>A (n.144T>A) c.7372T>A (p.Ser2458Thr) c.7384T>A (p.Ser2462Thr) c.7363T>A (p.Ser2455Thr) c.7018T>A (p.Ser2340Thr) c.3364T>A (p.Ser1122Thr) c.7258T>A (p.Ser2420Thr) c.7249T>A (p.Ser2417Thr) c.7264T>A (p.Ser2422Thr) c.1561T>A (p.Ser521Thr) | |
X | g.31774116T>A | CA515859385 | DMD | c.2232A>T (p.Pro744=) c.6A>T (p.Pro2=) n.1047A>T n.969A>T n.878A>T c.7386A>T (p.Pro2462=) c.3354A>T (p.Pro1118=) c.375A>T (p.Pro125=) c.474A>T (p.Pro158=) c.7374A>T (p.Pro2458=) c.143A>T (n.143A>T) c.7371A>T (p.Pro2457=) c.7383A>T (p.Pro2461=) c.7362A>T (p.Pro2454=) c.7017A>T (p.Pro2339=) c.3363A>T (p.Pro1121=) c.7257A>T (p.Pro2419=) c.7248A>T (p.Pro2416=) c.7263A>T (p.Pro2421=) c.1560A>T (p.Pro520=) | |
X | g.31774116T>C | CA10378282 | DMD | c.2232A>G (p.Pro744=) c.6A>G (p.Pro2=) n.1047A>G n.969A>G n.878A>G c.7386A>G (p.Pro2462=) c.3354A>G (p.Pro1118=) c.375A>G (p.Pro125=) c.474A>G (p.Pro158=) c.7374A>G (p.Pro2458=) c.143A>G (n.143A>G) c.7371A>G (p.Pro2457=) c.7383A>G (p.Pro2461=) c.7362A>G (p.Pro2454=) c.7017A>G (p.Pro2339=) c.3363A>G (p.Pro1121=) c.7257A>G (p.Pro2419=) c.7248A>G (p.Pro2416=) c.7263A>G (p.Pro2421=) c.1560A>G (p.Pro520=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31774116T>G | CA515859386 | DMD | c.2232A>C (p.Pro744=) c.6A>C (p.Pro2=) n.1047A>C n.969A>C n.878A>C c.7386A>C (p.Pro2462=) c.3354A>C (p.Pro1118=) c.375A>C (p.Pro125=) c.474A>C (p.Pro158=) c.7374A>C (p.Pro2458=) c.143A>C (n.143A>C) c.7371A>C (p.Pro2457=) c.7383A>C (p.Pro2461=) c.7362A>C (p.Pro2454=) c.7017A>C (p.Pro2339=) c.3363A>C (p.Pro1121=) c.7257A>C (p.Pro2419=) c.7248A>C (p.Pro2416=) c.7263A>C (p.Pro2421=) c.1560A>C (p.Pro520=) | |
X | g.31774116T= | CA2422548657 | DMD | c.2232A= (p.Pro744=) c.6A= (p.Pro2=) n.1047A= n.969A= n.878A= c.7386A= (p.Pro2462=) c.3354A= (p.Pro1118=) c.375A= (p.Pro125=) c.474A= (p.Pro158=) c.7374A= (p.Pro2458=) c.143A= (n.143A=) c.7371A= (p.Pro2457=) c.7383A= (p.Pro2461=) c.7362A= (p.Pro2454=) c.7017A= (p.Pro2339=) c.3363A= (p.Pro1121=) c.7257A= (p.Pro2419=) c.7248A= (p.Pro2416=) c.7263A= (p.Pro2421=) c.1560A= (p.Pro520=) | |
X | g.31774117G>A | CA412659041 | DMD | c.2231C>T (p.Pro744Leu) c.5C>T (p.Pro2Leu) n.1046C>T n.968C>T n.877C>T c.7385C>T (p.Pro2462Leu) c.3353C>T (p.Pro1118Leu) c.374C>T (p.Pro125Leu) c.473C>T (p.Pro158Leu) c.7373C>T (p.Pro2458Leu) c.142C>T (n.142C>T) c.7370C>T (p.Pro2457Leu) c.7382C>T (p.Pro2461Leu) c.7361C>T (p.Pro2454Leu) c.7016C>T (p.Pro2339Leu) c.3362C>T (p.Pro1121Leu) c.7256C>T (p.Pro2419Leu) c.7247C>T (p.Pro2416Leu) c.7262C>T (p.Pro2421Leu) c.1559C>T (p.Pro520Leu) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774117G>C | CA412659042 | DMD | c.2231C>G (p.Pro744Arg) c.5C>G (p.Pro2Arg) n.1046C>G n.968C>G n.877C>G c.7385C>G (p.Pro2462Arg) c.3353C>G (p.Pro1118Arg) c.374C>G (p.Pro125Arg) c.473C>G (p.Pro158Arg) c.7373C>G (p.Pro2458Arg) c.142C>G (n.142C>G) c.7370C>G (p.Pro2457Arg) c.7382C>G (p.Pro2461Arg) c.7361C>G (p.Pro2454Arg) c.7016C>G (p.Pro2339Arg) c.3362C>G (p.Pro1121Arg) c.7256C>G (p.Pro2419Arg) c.7247C>G (p.Pro2416Arg) c.7262C>G (p.Pro2421Arg) c.1559C>G (p.Pro520Arg) | |
X | g.31774117G= | CA2422548658 | DMD | c.2231C= (p.Pro744=) c.5C= (p.Pro2=) n.1046C= n.968C= n.877C= c.7385C= (p.Pro2462=) c.3353C= (p.Pro1118=) c.374C= (p.Pro125=) c.473C= (p.Pro158=) c.7373C= (p.Pro2458=) c.142C= (n.142C=) c.7370C= (p.Pro2457=) c.7382C= (p.Pro2461=) c.7361C= (p.Pro2454=) c.7016C= (p.Pro2339=) c.3362C= (p.Pro1121=) c.7256C= (p.Pro2419=) c.7247C= (p.Pro2416=) c.7262C= (p.Pro2421=) c.1559C= (p.Pro520=) | |
X | g.31774117G>T | CA412659043 | DMD | c.2231C>A (p.Pro744Gln) c.5C>A (p.Pro2Gln) n.1046C>A n.968C>A n.877C>A c.7385C>A (p.Pro2462Gln) c.3353C>A (p.Pro1118Gln) c.374C>A (p.Pro125Gln) c.473C>A (p.Pro158Gln) c.7373C>A (p.Pro2458Gln) c.142C>A (n.142C>A) c.7370C>A (p.Pro2457Gln) c.7382C>A (p.Pro2461Gln) c.7361C>A (p.Pro2454Gln) c.7016C>A (p.Pro2339Gln) c.3362C>A (p.Pro1121Gln) c.7256C>A (p.Pro2419Gln) c.7247C>A (p.Pro2416Gln) c.7262C>A (p.Pro2421Gln) c.1559C>A (p.Pro520Gln) | ClinVar |
X | g.31774118G>A | CA412659046 | DMD | c.2230C>T (p.Pro744Ser) c.4C>T (p.Pro2Ser) n.1045C>T n.967C>T n.876C>T c.7384C>T (p.Pro2462Ser) c.3352C>T (p.Pro1118Ser) c.373C>T (p.Pro125Ser) c.472C>T (p.Pro158Ser) c.7372C>T (p.Pro2458Ser) c.141C>T (n.141C>T) c.7369C>T (p.Pro2457Ser) c.7381C>T (p.Pro2461Ser) c.7360C>T (p.Pro2454Ser) c.7015C>T (p.Pro2339Ser) c.3361C>T (p.Pro1121Ser) c.7255C>T (p.Pro2419Ser) c.7246C>T (p.Pro2416Ser) c.7261C>T (p.Pro2421Ser) c.1558C>T (p.Pro520Ser) | |
X | g.31774118G>C | CA412659044 | DMD | c.2230C>G (p.Pro744Ala) c.4C>G (p.Pro2Ala) n.1045C>G n.967C>G n.876C>G c.7384C>G (p.Pro2462Ala) c.3352C>G (p.Pro1118Ala) c.373C>G (p.Pro125Ala) c.472C>G (p.Pro158Ala) c.7372C>G (p.Pro2458Ala) c.141C>G (n.141C>G) c.7369C>G (p.Pro2457Ala) c.7381C>G (p.Pro2461Ala) c.7360C>G (p.Pro2454Ala) c.7015C>G (p.Pro2339Ala) c.3361C>G (p.Pro1121Ala) c.7255C>G (p.Pro2419Ala) c.7246C>G (p.Pro2416Ala) c.7261C>G (p.Pro2421Ala) c.1558C>G (p.Pro520Ala) | |
X | g.31774118G>T | CA412659045 | DMD | c.2230C>A (p.Pro744Thr) c.4C>A (p.Pro2Thr) n.1045C>A n.967C>A n.876C>A c.7384C>A (p.Pro2462Thr) c.3352C>A (p.Pro1118Thr) c.373C>A (p.Pro125Thr) c.472C>A (p.Pro158Thr) c.7372C>A (p.Pro2458Thr) c.141C>A (n.141C>A) c.7369C>A (p.Pro2457Thr) c.7381C>A (p.Pro2461Thr) c.7360C>A (p.Pro2454Thr) c.7015C>A (p.Pro2339Thr) c.3361C>A (p.Pro1121Thr) c.7255C>A (p.Pro2419Thr) c.7246C>A (p.Pro2416Thr) c.7261C>A (p.Pro2421Thr) c.1558C>A (p.Pro520Thr) | |
X | g.31774119C>A | CA412659047 | DMD | c.2229G>T (p.Met743Ile) c.3G>T (p.Met1Ile) n.1044G>T n.966G>T n.875G>T c.7383G>T (p.Met2461Ile) c.3351G>T (p.Met1117Ile) c.372G>T (p.Met124Ile) c.471G>T (p.Met157Ile) c.7371G>T (p.Met2457Ile) c.140G>T (n.140G>T) c.7368G>T (p.Met2456Ile) c.7380G>T (p.Met2460Ile) c.7359G>T (p.Met2453Ile) c.7014G>T (p.Met2338Ile) c.3360G>T (p.Met1120Ile) c.7254G>T (p.Met2418Ile) c.7245G>T (p.Met2415Ile) c.7260G>T (p.Met2420Ile) c.1557G>T (p.Met519Ile) | |
X | g.31774119C>G | CA412659048 | DMD | c.2229G>C (p.Met743Ile) c.3G>C (p.Met1Ile) n.1044G>C n.966G>C n.875G>C c.7383G>C (p.Met2461Ile) c.3351G>C (p.Met1117Ile) c.372G>C (p.Met124Ile) c.471G>C (p.Met157Ile) c.7371G>C (p.Met2457Ile) c.140G>C (n.140G>C) c.7368G>C (p.Met2456Ile) c.7380G>C (p.Met2460Ile) c.7359G>C (p.Met2453Ile) c.7014G>C (p.Met2338Ile) c.3360G>C (p.Met1120Ile) c.7254G>C (p.Met2418Ile) c.7245G>C (p.Met2415Ile) c.7260G>C (p.Met2420Ile) c.1557G>C (p.Met519Ile) | |
X | g.31774119C>T | CA412659049 | DMD | c.2229G>A (p.Met743Ile) c.3G>A (p.Met1Ile) n.1044G>A n.966G>A n.875G>A c.7383G>A (p.Met2461Ile) c.3351G>A (p.Met1117Ile) c.372G>A (p.Met124Ile) c.471G>A (p.Met157Ile) c.7371G>A (p.Met2457Ile) c.140G>A (n.140G>A) c.7368G>A (p.Met2456Ile) c.7380G>A (p.Met2460Ile) c.7359G>A (p.Met2453Ile) c.7014G>A (p.Met2338Ile) c.3360G>A (p.Met1120Ile) c.7254G>A (p.Met2418Ile) c.7245G>A (p.Met2415Ile) c.7260G>A (p.Met2420Ile) c.1557G>A (p.Met519Ile) | COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774120A>C | CA412659050 | DMD | c.2228T>G (p.Met743Arg) c.2T>G (p.Met1Arg) n.1043T>G n.965T>G n.874T>G c.7382T>G (p.Met2461Arg) c.3350T>G (p.Met1117Arg) c.371T>G (p.Met124Arg) c.470T>G (p.Met157Arg) c.7370T>G (p.Met2457Arg) c.139T>G (n.139T>G) c.7367T>G (p.Met2456Arg) c.7379T>G (p.Met2460Arg) c.7358T>G (p.Met2453Arg) c.7013T>G (p.Met2338Arg) c.3359T>G (p.Met1120Arg) c.7253T>G (p.Met2418Arg) c.7244T>G (p.Met2415Arg) c.7259T>G (p.Met2420Arg) c.1556T>G (p.Met519Arg) | |
X | g.31774120A>G | CA412659051 | DMD | c.2228T>C (p.Met743Thr) c.2T>C (p.Met1Thr) n.1043T>C n.965T>C n.874T>C c.7382T>C (p.Met2461Thr) c.3350T>C (p.Met1117Thr) c.371T>C (p.Met124Thr) c.470T>C (p.Met157Thr) c.7370T>C (p.Met2457Thr) c.139T>C (n.139T>C) c.7367T>C (p.Met2456Thr) c.7379T>C (p.Met2460Thr) c.7358T>C (p.Met2453Thr) c.7013T>C (p.Met2338Thr) c.3359T>C (p.Met1120Thr) c.7253T>C (p.Met2418Thr) c.7244T>C (p.Met2415Thr) c.7259T>C (p.Met2420Thr) c.1556T>C (p.Met519Thr) | gnomAD v4 |
X | g.31774120A>T | CA412659052 | DMD | c.2228T>A (p.Met743Lys) c.2T>A (p.Met1Lys) n.1043T>A n.965T>A n.874T>A c.7382T>A (p.Met2461Lys) c.3350T>A (p.Met1117Lys) c.371T>A (p.Met124Lys) c.470T>A (p.Met157Lys) c.7370T>A (p.Met2457Lys) c.139T>A (n.139T>A) c.7367T>A (p.Met2456Lys) c.7379T>A (p.Met2460Lys) c.7358T>A (p.Met2453Lys) c.7013T>A (p.Met2338Lys) c.3359T>A (p.Met1120Lys) c.7253T>A (p.Met2418Lys) c.7244T>A (p.Met2415Lys) c.7259T>A (p.Met2420Lys) c.1556T>A (p.Met519Lys) | |
X | g.31774121T>A | CA412659053 | DMD | c.2227A>T (p.Met743Leu) c.1A>T (p.Met1Leu) n.1042A>T n.964A>T n.873A>T c.7381A>T (p.Met2461Leu) c.3349A>T (p.Met1117Leu) c.370A>T (p.Met124Leu) c.469A>T (p.Met157Leu) c.7369A>T (p.Met2457Leu) c.138A>T (n.138A>T) c.7366A>T (p.Met2456Leu) c.7378A>T (p.Met2460Leu) c.7357A>T (p.Met2453Leu) c.7012A>T (p.Met2338Leu) c.3358A>T (p.Met1120Leu) c.7252A>T (p.Met2418Leu) c.7243A>T (p.Met2415Leu) c.7258A>T (p.Met2420Leu) c.1555A>T (p.Met519Leu) | |
X | g.31774121T>C | CA412659054 | DMD | c.2227A>G (p.Met743Val) c.1A>G (p.Met1Val) n.1042A>G n.964A>G n.873A>G c.7381A>G (p.Met2461Val) c.3349A>G (p.Met1117Val) c.370A>G (p.Met124Val) c.469A>G (p.Met157Val) c.7369A>G (p.Met2457Val) c.138A>G (n.138A>G) c.7366A>G (p.Met2456Val) c.7378A>G (p.Met2460Val) c.7357A>G (p.Met2453Val) c.7012A>G (p.Met2338Val) c.3358A>G (p.Met1120Val) c.7252A>G (p.Met2418Val) c.7243A>G (p.Met2415Val) c.7258A>G (p.Met2420Val) c.1555A>G (p.Met519Val) | |
X | g.31774121T>G | CA412659055 | DMD | c.2227A>C (p.Met743Leu) c.1A>C (p.Met1Leu) n.1042A>C n.964A>C n.873A>C c.7381A>C (p.Met2461Leu) c.3349A>C (p.Met1117Leu) c.370A>C (p.Met124Leu) c.469A>C (p.Met157Leu) c.7369A>C (p.Met2457Leu) c.138A>C (n.138A>C) c.7366A>C (p.Met2456Leu) c.7378A>C (p.Met2460Leu) c.7357A>C (p.Met2453Leu) c.7012A>C (p.Met2338Leu) c.3358A>C (p.Met1120Leu) c.7252A>C (p.Met2418Leu) c.7243A>C (p.Met2415Leu) c.7258A>C (p.Met2420Leu) c.1555A>C (p.Met519Leu) | |
X | g.31774123del | CA2573158639 | DMD | c.2227del (p.Met743CysfsTer5) c.1del (p.Met1CysfsTer5) n.1042del n.964del n.873del c.7381del (p.Met2461CysfsTer5) c.3349del (p.Met1117CysfsTer5) c.370del (p.Met124CysfsTer5) c.469del (p.Met157CysfsTer5) c.7369del (p.Met2457CysfsTer5) c.138del (n.138del) c.7366del (p.Met2456CysfsTer5) c.7378del (p.Met2460CysfsTer5) c.7357del (p.Met2453CysfsTer5) c.7012del (p.Met2338CysfsTer5) c.3358del (p.Met1120CysfsTer5) c.7252del (p.Met2418CysfsTer5) c.7243del (p.Met2415CysfsTer5) c.7258del (p.Met2420CysfsTer5) c.1555del (p.Met519CysfsTer5) | ClinVar dbSNP |
X | g.31774122T>A | CA412659056 | DMD | c.2226A>T (p.Glu742Asp) c.-1A>T (n.-1A>T) n.1041A>T n.963A>T n.872A>T c.7380A>T (p.Glu2460Asp) c.3348A>T (p.Glu1116Asp) c.369A>T (p.Glu123Asp) c.468A>T (p.Glu156Asp) c.7368A>T (p.Glu2456Asp) c.137A>T (n.137A>T) c.7365A>T (p.Glu2455Asp) c.7377A>T (p.Glu2459Asp) c.7356A>T (p.Glu2452Asp) c.7011A>T (p.Glu2337Asp) c.3357A>T (p.Glu1119Asp) c.7251A>T (p.Glu2417Asp) c.7242A>T (p.Glu2414Asp) c.7257A>T (p.Glu2419Asp) c.1554A>T (p.Glu518Asp) | |
X | g.31774122T>C | CA515859387 | DMD | c.2226A>G (p.Glu742=) c.-1A>G (n.-1A>G) n.1041A>G n.963A>G n.872A>G c.7380A>G (p.Glu2460=) c.3348A>G (p.Glu1116=) c.369A>G (p.Glu123=) c.468A>G (p.Glu156=) c.7368A>G (p.Glu2456=) c.137A>G (n.137A>G) c.7365A>G (p.Glu2455=) c.7377A>G (p.Glu2459=) c.7356A>G (p.Glu2452=) c.7011A>G (p.Glu2337=) c.3357A>G (p.Glu1119=) c.7251A>G (p.Glu2417=) c.7242A>G (p.Glu2414=) c.7257A>G (p.Glu2419=) c.1554A>G (p.Glu518=) | |
X | g.31774122T>G | CA412659057 | DMD | c.2226A>C (p.Glu742Asp) c.-1A>C (n.-1A>C) n.1041A>C n.963A>C n.872A>C c.7380A>C (p.Glu2460Asp) c.3348A>C (p.Glu1116Asp) c.369A>C (p.Glu123Asp) c.468A>C (p.Glu156Asp) c.7368A>C (p.Glu2456Asp) c.137A>C (n.137A>C) c.7365A>C (p.Glu2455Asp) c.7377A>C (p.Glu2459Asp) c.7356A>C (p.Glu2452Asp) c.7011A>C (p.Glu2337Asp) c.3357A>C (p.Glu1119Asp) c.7251A>C (p.Glu2417Asp) c.7242A>C (p.Glu2414Asp) c.7257A>C (p.Glu2419Asp) c.1554A>C (p.Glu518Asp) | |
X | g.31774123T>A | CA412659058 | DMD | c.2225A>T (p.Glu742Val) c.-2A>T (n.-2A>T) n.1040A>T n.962A>T n.871A>T c.7379A>T (p.Glu2460Val) c.3347A>T (p.Glu1116Val) c.368A>T (p.Glu123Val) c.467A>T (p.Glu156Val) c.7367A>T (p.Glu2456Val) c.136A>T (n.136A>T) c.7364A>T (p.Glu2455Val) c.7376A>T (p.Glu2459Val) c.7355A>T (p.Glu2452Val) c.7010A>T (p.Glu2337Val) c.3356A>T (p.Glu1119Val) c.7250A>T (p.Glu2417Val) c.7241A>T (p.Glu2414Val) c.7256A>T (p.Glu2419Val) c.1553A>T (p.Glu518Val) | |
X | g.31774123T>C | CA412659060 | DMD | c.2225A>G (p.Glu742Gly) c.-2A>G (n.-2A>G) n.1040A>G n.962A>G n.871A>G c.7379A>G (p.Glu2460Gly) c.3347A>G (p.Glu1116Gly) c.368A>G (p.Glu123Gly) c.467A>G (p.Glu156Gly) c.7367A>G (p.Glu2456Gly) c.136A>G (n.136A>G) c.7364A>G (p.Glu2455Gly) c.7376A>G (p.Glu2459Gly) c.7355A>G (p.Glu2452Gly) c.7010A>G (p.Glu2337Gly) c.3356A>G (p.Glu1119Gly) c.7250A>G (p.Glu2417Gly) c.7241A>G (p.Glu2414Gly) c.7256A>G (p.Glu2419Gly) c.1553A>G (p.Glu518Gly) | |
X | g.31774123T>G | CA412659059 | DMD | c.2225A>C (p.Glu742Ala) c.-2A>C (n.-2A>C) n.1040A>C n.962A>C n.871A>C c.7379A>C (p.Glu2460Ala) c.3347A>C (p.Glu1116Ala) c.368A>C (p.Glu123Ala) c.467A>C (p.Glu156Ala) c.7367A>C (p.Glu2456Ala) c.136A>C (n.136A>C) c.7364A>C (p.Glu2455Ala) c.7376A>C (p.Glu2459Ala) c.7355A>C (p.Glu2452Ala) c.7010A>C (p.Glu2337Ala) c.3356A>C (p.Glu1119Ala) c.7250A>C (p.Glu2417Ala) c.7241A>C (p.Glu2414Ala) c.7256A>C (p.Glu2419Ala) c.1553A>C (p.Glu518Ala) | |
X | g.31774124C>A | CA412659061 | DMD | c.2224G>T (p.Glu742Ter) c.-3G>T (n.-3G>T) n.1039G>T n.961G>T n.870G>T c.7378G>T (p.Glu2460Ter) c.3346G>T (p.Glu1116Ter) c.367G>T (p.Glu123Ter) c.466G>T (p.Glu156Ter) c.7366G>T (p.Glu2456Ter) c.135G>T (n.135G>T) c.7363G>T (p.Glu2455Ter) c.7375G>T (p.Glu2459Ter) c.7354G>T (p.Glu2452Ter) c.7009G>T (p.Glu2337Ter) c.3355G>T (p.Glu1119Ter) c.7249G>T (p.Glu2417Ter) c.7240G>T (p.Glu2414Ter) c.7255G>T (p.Glu2419Ter) c.1552G>T (p.Glu518Ter) | ClinVar dbSNP |
X | g.31774124C= | CA2422548659 | DMD | c.2224G= (p.Glu742=) c.-3G= (n.-3G=) n.1039G= n.961G= n.870G= c.7378G= (p.Glu2460=) c.3346G= (p.Glu1116=) c.367G= (p.Glu123=) c.466G= (p.Glu156=) c.7366G= (p.Glu2456=) c.135G= (n.135G=) c.7363G= (p.Glu2455=) c.7375G= (p.Glu2459=) c.7354G= (p.Glu2452=) c.7009G= (p.Glu2337=) c.3355G= (p.Glu1119=) c.7249G= (p.Glu2417=) c.7240G= (p.Glu2414=) c.7255G= (p.Glu2419=) c.1552G= (p.Glu518=) | |
X | g.31774124C>G | CA412659062 | DMD | c.2224G>C (p.Glu742Gln) c.-3G>C (n.-3G>C) n.1039G>C n.961G>C n.870G>C c.7378G>C (p.Glu2460Gln) c.3346G>C (p.Glu1116Gln) c.367G>C (p.Glu123Gln) c.466G>C (p.Glu156Gln) c.7366G>C (p.Glu2456Gln) c.135G>C (n.135G>C) c.7363G>C (p.Glu2455Gln) c.7375G>C (p.Glu2459Gln) c.7354G>C (p.Glu2452Gln) c.7009G>C (p.Glu2337Gln) c.3355G>C (p.Glu1119Gln) c.7249G>C (p.Glu2417Gln) c.7240G>C (p.Glu2414Gln) c.7255G>C (p.Glu2419Gln) c.1552G>C (p.Glu518Gln) | |
X | g.31774124C>T | CA412659063 | DMD | c.2224G>A (p.Glu742Lys) c.-3G>A (n.-3G>A) n.1039G>A n.961G>A n.870G>A c.7378G>A (p.Glu2460Lys) c.3346G>A (p.Glu1116Lys) c.367G>A (p.Glu123Lys) c.466G>A (p.Glu156Lys) c.7366G>A (p.Glu2456Lys) c.135G>A (n.135G>A) c.7363G>A (p.Glu2455Lys) c.7375G>A (p.Glu2459Lys) c.7354G>A (p.Glu2452Lys) c.7009G>A (p.Glu2337Lys) c.3355G>A (p.Glu1119Lys) c.7249G>A (p.Glu2417Lys) c.7240G>A (p.Glu2414Lys) c.7255G>A (p.Glu2419Lys) c.1552G>A (p.Glu518Lys) | |
X | g.31774125T>A | CA515859388 | DMD | c.2223A>T (p.Leu741=) c.-4A>T (n.-4A>T) n.1038A>T n.960A>T n.869A>T c.7377A>T (p.Leu2459=) c.3345A>T (p.Leu1115=) c.366A>T (p.Leu122=) c.465A>T (p.Leu155=) c.7365A>T (p.Leu2455=) c.134A>T (n.134A>T) c.7362A>T (p.Leu2454=) c.7374A>T (p.Leu2458=) c.7353A>T (p.Leu2451=) c.7008A>T (p.Leu2336=) c.3354A>T (p.Leu1118=) c.7248A>T (p.Leu2416=) c.7239A>T (p.Leu2413=) c.7254A>T (p.Leu2418=) c.1551A>T (p.Leu517=) | |
X | g.31774125T>C | CA515859389 | DMD | c.2223A>G (p.Leu741=) c.-4A>G (n.-4A>G) n.1038A>G n.960A>G n.869A>G c.7377A>G (p.Leu2459=) c.3345A>G (p.Leu1115=) c.366A>G (p.Leu122=) c.465A>G (p.Leu155=) c.7365A>G (p.Leu2455=) c.134A>G (n.134A>G) c.7362A>G (p.Leu2454=) c.7374A>G (p.Leu2458=) c.7353A>G (p.Leu2451=) c.7008A>G (p.Leu2336=) c.3354A>G (p.Leu1118=) c.7248A>G (p.Leu2416=) c.7239A>G (p.Leu2413=) c.7254A>G (p.Leu2418=) c.1551A>G (p.Leu517=) | |
X | g.31774125T>G | CA515859390 | DMD | c.2223A>C (p.Leu741=) c.-4A>C (n.-4A>C) n.1038A>C n.960A>C n.869A>C c.7377A>C (p.Leu2459=) c.3345A>C (p.Leu1115=) c.366A>C (p.Leu122=) c.465A>C (p.Leu155=) c.7365A>C (p.Leu2455=) c.134A>C (n.134A>C) c.7362A>C (p.Leu2454=) c.7374A>C (p.Leu2458=) c.7353A>C (p.Leu2451=) c.7008A>C (p.Leu2336=) c.3354A>C (p.Leu1118=) c.7248A>C (p.Leu2416=) c.7239A>C (p.Leu2413=) c.7254A>C (p.Leu2418=) c.1551A>C (p.Leu517=) | |
X | g.31774126A= | CA2422548660 | DMD | c.2222T= (p.Leu741=) c.-5T= (n.-5T=) n.1037T= n.959T= n.868T= c.7376T= (p.Leu2459=) c.3344T= (p.Leu1115=) c.365T= (p.Leu122=) c.464T= (p.Leu155=) c.7364T= (p.Leu2455=) c.133T= (n.133T=) c.7361T= (p.Leu2454=) c.7373T= (p.Leu2458=) c.7352T= (p.Leu2451=) c.7007T= (p.Leu2336=) c.3353T= (p.Leu1118=) c.7247T= (p.Leu2416=) c.7238T= (p.Leu2413=) c.7253T= (p.Leu2418=) c.1550T= (p.Leu517=) | |
X | g.31774126A>C | CA412659064 | DMD | c.2222T>G (p.Leu741Arg) c.-5T>G (n.-5T>G) n.1037T>G n.959T>G n.868T>G c.7376T>G (p.Leu2459Arg) c.3344T>G (p.Leu1115Arg) c.365T>G (p.Leu122Arg) c.464T>G (p.Leu155Arg) c.7364T>G (p.Leu2455Arg) c.133T>G (n.133T>G) c.7361T>G (p.Leu2454Arg) c.7373T>G (p.Leu2458Arg) c.7352T>G (p.Leu2451Arg) c.7007T>G (p.Leu2336Arg) c.3353T>G (p.Leu1118Arg) c.7247T>G (p.Leu2416Arg) c.7238T>G (p.Leu2413Arg) c.7253T>G (p.Leu2418Arg) c.1550T>G (p.Leu517Arg) | |
X | g.31774126A>G | CA412659065 | DMD | c.2222T>C (p.Leu741Pro) c.-5T>C (n.-5T>C) n.1037T>C n.959T>C n.868T>C c.7376T>C (p.Leu2459Pro) c.3344T>C (p.Leu1115Pro) c.365T>C (p.Leu122Pro) c.464T>C (p.Leu155Pro) c.7364T>C (p.Leu2455Pro) c.133T>C (n.133T>C) c.7361T>C (p.Leu2454Pro) c.7373T>C (p.Leu2458Pro) c.7352T>C (p.Leu2451Pro) c.7007T>C (p.Leu2336Pro) c.3353T>C (p.Leu1118Pro) c.7247T>C (p.Leu2416Pro) c.7238T>C (p.Leu2413Pro) c.7253T>C (p.Leu2418Pro) c.1550T>C (p.Leu517Pro) | dbSNP gnomAD v2 gnomAD v4 |
X | g.31774126A>T | CA412659066 | DMD | c.2222T>A (p.Leu741Gln) c.-5T>A (n.-5T>A) n.1037T>A n.959T>A n.868T>A c.7376T>A (p.Leu2459Gln) c.3344T>A (p.Leu1115Gln) c.365T>A (p.Leu122Gln) c.464T>A (p.Leu155Gln) c.7364T>A (p.Leu2455Gln) c.133T>A (n.133T>A) c.7361T>A (p.Leu2454Gln) c.7373T>A (p.Leu2458Gln) c.7352T>A (p.Leu2451Gln) c.7007T>A (p.Leu2336Gln) c.3353T>A (p.Leu1118Gln) c.7247T>A (p.Leu2416Gln) c.7238T>A (p.Leu2413Gln) c.7253T>A (p.Leu2418Gln) c.1550T>A (p.Leu517Gln) | |
X | g.31774127G>A | CA515859391 | DMD | c.2221C>T (p.Leu741=) c.-6C>T (n.-6C>T) n.1036C>T n.958C>T n.867C>T c.7375C>T (p.Leu2459=) c.3343C>T (p.Leu1115=) c.364C>T (p.Leu122=) c.463C>T (p.Leu155=) c.7363C>T (p.Leu2455=) c.132C>T (n.132C>T) c.7360C>T (p.Leu2454=) c.7372C>T (p.Leu2458=) c.7351C>T (p.Leu2451=) c.7006C>T (p.Leu2336=) c.3352C>T (p.Leu1118=) c.7246C>T (p.Leu2416=) c.7237C>T (p.Leu2413=) c.7252C>T (p.Leu2418=) c.1549C>T (p.Leu517=) | |
X | g.31774127G>C | CA328470494 | DMD | c.2221C>G (p.Leu741Val) c.-6C>G (n.-6C>G) n.1036C>G n.958C>G n.867C>G c.7375C>G (p.Leu2459Val) c.3343C>G (p.Leu1115Val) c.364C>G (p.Leu122Val) c.463C>G (p.Leu155Val) c.7363C>G (p.Leu2455Val) c.132C>G (n.132C>G) c.7360C>G (p.Leu2454Val) c.7372C>G (p.Leu2458Val) c.7351C>G (p.Leu2451Val) c.7006C>G (p.Leu2336Val) c.3352C>G (p.Leu1118Val) c.7246C>G (p.Leu2416Val) c.7237C>G (p.Leu2413Val) c.7252C>G (p.Leu2418Val) c.1549C>G (p.Leu517Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774127G= | CA2422548661 | DMD | c.2221C= (p.Leu741=) c.-6C= (n.-6C=) n.1036C= n.958C= n.867C= c.7375C= (p.Leu2459=) c.3343C= (p.Leu1115=) c.364C= (p.Leu122=) c.463C= (p.Leu155=) c.7363C= (p.Leu2455=) c.132C= (n.132C=) c.7360C= (p.Leu2454=) c.7372C= (p.Leu2458=) c.7351C= (p.Leu2451=) c.7006C= (p.Leu2336=) c.3352C= (p.Leu1118=) c.7246C= (p.Leu2416=) c.7237C= (p.Leu2413=) c.7252C= (p.Leu2418=) c.1549C= (p.Leu517=) | |
X | g.31774127G>T | CA412659067 | DMD | c.2221C>A (p.Leu741Ile) c.-6C>A (n.-6C>A) n.1036C>A n.958C>A n.867C>A c.7375C>A (p.Leu2459Ile) c.3343C>A (p.Leu1115Ile) c.364C>A (p.Leu122Ile) c.463C>A (p.Leu155Ile) c.7363C>A (p.Leu2455Ile) c.132C>A (n.132C>A) c.7360C>A (p.Leu2454Ile) c.7372C>A (p.Leu2458Ile) c.7351C>A (p.Leu2451Ile) c.7006C>A (p.Leu2336Ile) c.3352C>A (p.Leu1118Ile) c.7246C>A (p.Leu2416Ile) c.7237C>A (p.Leu2413Ile) c.7252C>A (p.Leu2418Ile) c.1549C>A (p.Leu517Ile) | |
X | g.31774128T>A | CA412659068 | DMD | c.2220A>T (p.Lys740Asn) c.-7A>T (n.-7A>T) n.1035A>T n.957A>T n.866A>T c.7374A>T (p.Lys2458Asn) c.3342A>T (p.Lys1114Asn) c.363A>T (p.Lys121Asn) c.462A>T (p.Lys154Asn) c.7362A>T (p.Lys2454Asn) c.131A>T (n.131A>T) c.7359A>T (p.Lys2453Asn) c.7371A>T (p.Lys2457Asn) c.7350A>T (p.Lys2450Asn) c.7005A>T (p.Lys2335Asn) c.3351A>T (p.Lys1117Asn) c.7245A>T (p.Lys2415Asn) c.7236A>T (p.Lys2412Asn) c.7251A>T (p.Lys2417Asn) c.1548A>T (p.Lys516Asn) | |
X | g.31774128T>C | CA515859392 | DMD | c.2220A>G (p.Lys740=) c.-7A>G (n.-7A>G) n.1035A>G n.957A>G n.866A>G c.7374A>G (p.Lys2458=) c.3342A>G (p.Lys1114=) c.363A>G (p.Lys121=) c.462A>G (p.Lys154=) c.7362A>G (p.Lys2454=) c.131A>G (n.131A>G) c.7359A>G (p.Lys2453=) c.7371A>G (p.Lys2457=) c.7350A>G (p.Lys2450=) c.7005A>G (p.Lys2335=) c.3351A>G (p.Lys1117=) c.7245A>G (p.Lys2415=) c.7236A>G (p.Lys2412=) c.7251A>G (p.Lys2417=) c.1548A>G (p.Lys516=) | |
X | g.31774128T>G | CA412659069 | DMD | c.2220A>C (p.Lys740Asn) c.-7A>C (n.-7A>C) n.1035A>C n.957A>C n.866A>C c.7374A>C (p.Lys2458Asn) c.3342A>C (p.Lys1114Asn) c.363A>C (p.Lys121Asn) c.462A>C (p.Lys154Asn) c.7362A>C (p.Lys2454Asn) c.131A>C (n.131A>C) c.7359A>C (p.Lys2453Asn) c.7371A>C (p.Lys2457Asn) c.7350A>C (p.Lys2450Asn) c.7005A>C (p.Lys2335Asn) c.3351A>C (p.Lys1117Asn) c.7245A>C (p.Lys2415Asn) c.7236A>C (p.Lys2412Asn) c.7251A>C (p.Lys2417Asn) c.1548A>C (p.Lys516Asn) | |
X | g.31774129T>A | CA412659070 | DMD | c.2219A>T (p.Lys740Ile) c.-8A>T (n.-8A>T) n.1034A>T n.956A>T n.865A>T c.7373A>T (p.Lys2458Ile) c.3341A>T (p.Lys1114Ile) c.362A>T (p.Lys121Ile) c.461A>T (p.Lys154Ile) c.7361A>T (p.Lys2454Ile) c.130A>T (n.130A>T) c.7358A>T (p.Lys2453Ile) c.7370A>T (p.Lys2457Ile) c.7349A>T (p.Lys2450Ile) c.7004A>T (p.Lys2335Ile) c.3350A>T (p.Lys1117Ile) c.7244A>T (p.Lys2415Ile) c.7235A>T (p.Lys2412Ile) c.7250A>T (p.Lys2417Ile) c.1547A>T (p.Lys516Ile) | |
X | g.31774129T>C | CA412659071 | DMD | c.2219A>G (p.Lys740Arg) c.-8A>G (n.-8A>G) n.1034A>G n.956A>G n.865A>G c.7373A>G (p.Lys2458Arg) c.3341A>G (p.Lys1114Arg) c.362A>G (p.Lys121Arg) c.461A>G (p.Lys154Arg) c.7361A>G (p.Lys2454Arg) c.130A>G (n.130A>G) c.7358A>G (p.Lys2453Arg) c.7370A>G (p.Lys2457Arg) c.7349A>G (p.Lys2450Arg) c.7004A>G (p.Lys2335Arg) c.3350A>G (p.Lys1117Arg) c.7244A>G (p.Lys2415Arg) c.7235A>G (p.Lys2412Arg) c.7250A>G (p.Lys2417Arg) c.1547A>G (p.Lys516Arg) | |
X | g.31774129T>G | CA412659072 | DMD | c.2219A>C (p.Lys740Thr) c.-8A>C (n.-8A>C) n.1034A>C n.956A>C n.865A>C c.7373A>C (p.Lys2458Thr) c.3341A>C (p.Lys1114Thr) c.362A>C (p.Lys121Thr) c.461A>C (p.Lys154Thr) c.7361A>C (p.Lys2454Thr) c.130A>C (n.130A>C) c.7358A>C (p.Lys2453Thr) c.7370A>C (p.Lys2457Thr) c.7349A>C (p.Lys2450Thr) c.7004A>C (p.Lys2335Thr) c.3350A>C (p.Lys1117Thr) c.7244A>C (p.Lys2415Thr) c.7235A>C (p.Lys2412Thr) c.7250A>C (p.Lys2417Thr) c.1547A>C (p.Lys516Thr) | |
X | g.31774130T>A | CA412659075 | DMD | c.2218A>T (p.Lys740Ter) c.-9A>T (n.-9A>T) n.1033A>T n.955A>T n.864A>T c.7372A>T (p.Lys2458Ter) c.3340A>T (p.Lys1114Ter) c.361A>T (p.Lys121Ter) c.460A>T (p.Lys154Ter) c.7360A>T (p.Lys2454Ter) c.129A>T (n.129A>T) c.7357A>T (p.Lys2453Ter) c.7369A>T (p.Lys2457Ter) c.7348A>T (p.Lys2450Ter) c.7003A>T (p.Lys2335Ter) c.3349A>T (p.Lys1117Ter) c.7243A>T (p.Lys2415Ter) c.7234A>T (p.Lys2412Ter) c.7249A>T (p.Lys2417Ter) c.1546A>T (p.Lys516Ter) | |
X | g.31774130T>C | CA412659074 | DMD | c.2218A>G (p.Lys740Glu) c.-9A>G (n.-9A>G) n.1033A>G n.955A>G n.864A>G c.7372A>G (p.Lys2458Glu) c.3340A>G (p.Lys1114Glu) c.361A>G (p.Lys121Glu) c.460A>G (p.Lys154Glu) c.7360A>G (p.Lys2454Glu) c.129A>G (n.129A>G) c.7357A>G (p.Lys2453Glu) c.7369A>G (p.Lys2457Glu) c.7348A>G (p.Lys2450Glu) c.7003A>G (p.Lys2335Glu) c.3349A>G (p.Lys1117Glu) c.7243A>G (p.Lys2415Glu) c.7234A>G (p.Lys2412Glu) c.7249A>G (p.Lys2417Glu) c.1546A>G (p.Lys516Glu) | |
X | g.31774130T>G | CA412659073 | DMD | c.2218A>C (p.Lys740Gln) c.-9A>C (n.-9A>C) n.1033A>C n.955A>C n.864A>C c.7372A>C (p.Lys2458Gln) c.3340A>C (p.Lys1114Gln) c.361A>C (p.Lys121Gln) c.460A>C (p.Lys154Gln) c.7360A>C (p.Lys2454Gln) c.129A>C (n.129A>C) c.7357A>C (p.Lys2453Gln) c.7369A>C (p.Lys2457Gln) c.7348A>C (p.Lys2450Gln) c.7003A>C (p.Lys2335Gln) c.3349A>C (p.Lys1117Gln) c.7243A>C (p.Lys2415Gln) c.7234A>C (p.Lys2412Gln) c.7249A>C (p.Lys2417Gln) c.1546A>C (p.Lys516Gln) | |
X | g.31774131G>A | CA515859393 | DMD | c.2217C>T (p.Ser739=) c.-10C>T (n.-10C>T) n.1032C>T n.954C>T n.863C>T c.7371C>T (p.Ser2457=) c.3339C>T (p.Ser1113=) c.360C>T (p.Ser120=) c.459C>T (p.Ser153=) c.7359C>T (p.Ser2453=) c.128C>T (n.128C>T) c.7356C>T (p.Ser2452=) c.7368C>T (p.Ser2456=) c.7347C>T (p.Ser2449=) c.7002C>T (p.Ser2334=) c.3348C>T (p.Ser1116=) c.7242C>T (p.Ser2414=) c.7233C>T (p.Ser2411=) c.7248C>T (p.Ser2416=) c.1545C>T (p.Ser515=) | |
X | g.31774131G>C | CA515859394 | DMD | c.2217C>G (p.Ser739=) c.-10C>G (n.-10C>G) n.1032C>G n.954C>G n.863C>G c.7371C>G (p.Ser2457=) c.3339C>G (p.Ser1113=) c.360C>G (p.Ser120=) c.459C>G (p.Ser153=) c.7359C>G (p.Ser2453=) c.128C>G (n.128C>G) c.7356C>G (p.Ser2452=) c.7368C>G (p.Ser2456=) c.7347C>G (p.Ser2449=) c.7002C>G (p.Ser2334=) c.3348C>G (p.Ser1116=) c.7242C>G (p.Ser2414=) c.7233C>G (p.Ser2411=) c.7248C>G (p.Ser2416=) c.1545C>G (p.Ser515=) | ClinVar |
X | g.31774131G>T | CA515859395 | DMD | c.2217C>A (p.Ser739=) c.-10C>A (n.-10C>A) n.1032C>A n.954C>A n.863C>A c.7371C>A (p.Ser2457=) c.3339C>A (p.Ser1113=) c.360C>A (p.Ser120=) c.459C>A (p.Ser153=) c.7359C>A (p.Ser2453=) c.128C>A (n.128C>A) c.7356C>A (p.Ser2452=) c.7368C>A (p.Ser2456=) c.7347C>A (p.Ser2449=) c.7002C>A (p.Ser2334=) c.3348C>A (p.Ser1116=) c.7242C>A (p.Ser2414=) c.7233C>A (p.Ser2411=) c.7248C>A (p.Ser2416=) c.1545C>A (p.Ser515=) | |
X | g.31774132G>A | CA10378283 | DMD | c.2216C>T (p.Ser739Phe) c.-11C>T (n.-11C>T) n.1031C>T n.953C>T n.862C>T c.7370C>T (p.Ser2457Phe) c.3338C>T (p.Ser1113Phe) c.359C>T (p.Ser120Phe) c.458C>T (p.Ser153Phe) c.7358C>T (p.Ser2453Phe) c.127C>T (n.127C>T) c.7355C>T (p.Ser2452Phe) c.7367C>T (p.Ser2456Phe) c.7346C>T (p.Ser2449Phe) c.7001C>T (p.Ser2334Phe) c.3347C>T (p.Ser1116Phe) c.7241C>T (p.Ser2414Phe) c.7232C>T (p.Ser2411Phe) c.7247C>T (p.Ser2416Phe) c.1544C>T (p.Ser515Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31774132G>C | CA412659076 | DMD | c.2216C>G (p.Ser739Cys) c.-11C>G (n.-11C>G) n.1031C>G n.953C>G n.862C>G c.7370C>G (p.Ser2457Cys) c.3338C>G (p.Ser1113Cys) c.359C>G (p.Ser120Cys) c.458C>G (p.Ser153Cys) c.7358C>G (p.Ser2453Cys) c.127C>G (n.127C>G) c.7355C>G (p.Ser2452Cys) c.7367C>G (p.Ser2456Cys) c.7346C>G (p.Ser2449Cys) c.7001C>G (p.Ser2334Cys) c.3347C>G (p.Ser1116Cys) c.7241C>G (p.Ser2414Cys) c.7232C>G (p.Ser2411Cys) c.7247C>G (p.Ser2416Cys) c.1544C>G (p.Ser515Cys) | |
X | g.31774132G= | CA2422548662 | DMD | c.2216C= (p.Ser739=) c.-11C= (n.-11C=) n.1031C= n.953C= n.862C= c.7370C= (p.Ser2457=) c.3338C= (p.Ser1113=) c.359C= (p.Ser120=) c.458C= (p.Ser153=) c.7358C= (p.Ser2453=) c.127C= (n.127C=) c.7355C= (p.Ser2452=) c.7367C= (p.Ser2456=) c.7346C= (p.Ser2449=) c.7001C= (p.Ser2334=) c.3347C= (p.Ser1116=) c.7241C= (p.Ser2414=) c.7232C= (p.Ser2411=) c.7247C= (p.Ser2416=) c.1544C= (p.Ser515=) | |
X | g.31774132G>T | CA412659077 | DMD | c.2216C>A (p.Ser739Tyr) c.-11C>A (n.-11C>A) n.1031C>A n.953C>A n.862C>A c.7370C>A (p.Ser2457Tyr) c.3338C>A (p.Ser1113Tyr) c.359C>A (p.Ser120Tyr) c.458C>A (p.Ser153Tyr) c.7358C>A (p.Ser2453Tyr) c.127C>A (n.127C>A) c.7355C>A (p.Ser2452Tyr) c.7367C>A (p.Ser2456Tyr) c.7346C>A (p.Ser2449Tyr) c.7001C>A (p.Ser2334Tyr) c.3347C>A (p.Ser1116Tyr) c.7241C>A (p.Ser2414Tyr) c.7232C>A (p.Ser2411Tyr) c.7247C>A (p.Ser2416Tyr) c.1544C>A (p.Ser515Tyr) | |
X | g.31774133A>C | CA412659078 | DMD | c.2215T>G (p.Ser739Ala) c.-12T>G (n.-12T>G) n.1030T>G n.952T>G n.861T>G c.7369T>G (p.Ser2457Ala) c.3337T>G (p.Ser1113Ala) c.358T>G (p.Ser120Ala) c.457T>G (p.Ser153Ala) c.7357T>G (p.Ser2453Ala) c.126T>G (n.126T>G) c.7354T>G (p.Ser2452Ala) c.7366T>G (p.Ser2456Ala) c.7345T>G (p.Ser2449Ala) c.7000T>G (p.Ser2334Ala) c.3346T>G (p.Ser1116Ala) c.7240T>G (p.Ser2414Ala) c.7231T>G (p.Ser2411Ala) c.7246T>G (p.Ser2416Ala) c.1543T>G (p.Ser515Ala) | |
X | g.31774133A>G | CA412659079 | DMD | c.2215T>C (p.Ser739Pro) c.-12T>C (n.-12T>C) n.1030T>C n.952T>C n.861T>C c.7369T>C (p.Ser2457Pro) c.3337T>C (p.Ser1113Pro) c.358T>C (p.Ser120Pro) c.457T>C (p.Ser153Pro) c.7357T>C (p.Ser2453Pro) c.126T>C (n.126T>C) c.7354T>C (p.Ser2452Pro) c.7366T>C (p.Ser2456Pro) c.7345T>C (p.Ser2449Pro) c.7000T>C (p.Ser2334Pro) c.3346T>C (p.Ser1116Pro) c.7240T>C (p.Ser2414Pro) c.7231T>C (p.Ser2411Pro) c.7246T>C (p.Ser2416Pro) c.1543T>C (p.Ser515Pro) | |
X | g.31774133A>T | CA412659080 | DMD | c.2215T>A (p.Ser739Thr) c.-12T>A (n.-12T>A) n.1030T>A n.952T>A n.861T>A c.7369T>A (p.Ser2457Thr) c.3337T>A (p.Ser1113Thr) c.358T>A (p.Ser120Thr) c.457T>A (p.Ser153Thr) c.7357T>A (p.Ser2453Thr) c.126T>A (n.126T>A) c.7354T>A (p.Ser2452Thr) c.7366T>A (p.Ser2456Thr) c.7345T>A (p.Ser2449Thr) c.7000T>A (p.Ser2334Thr) c.3346T>A (p.Ser1116Thr) c.7240T>A (p.Ser2414Thr) c.7231T>A (p.Ser2411Thr) c.7246T>A (p.Ser2416Thr) c.1543T>A (p.Ser515Thr) | |
X | g.31774134G>A | CA515859396 | DMD | c.2214C>T (p.Ile738=) c.-13C>T (n.-13C>T) n.1029C>T n.951C>T n.860C>T c.7368C>T (p.Ile2456=) c.3336C>T (p.Ile1112=) c.357C>T (p.Ile119=) c.456C>T (p.Ile152=) c.7356C>T (p.Ile2452=) c.125C>T (n.125C>T) c.7353C>T (p.Ile2451=) c.7365C>T (p.Ile2455=) c.7344C>T (p.Ile2448=) c.6999C>T (p.Ile2333=) c.3345C>T (p.Ile1115=) c.7239C>T (p.Ile2413=) c.7230C>T (p.Ile2410=) c.7245C>T (p.Ile2415=) c.1542C>T (p.Ile514=) | |
X | g.31774134G>C | CA412659081 | DMD | c.2214C>G (p.Ile738Met) c.-13C>G (n.-13C>G) n.1029C>G n.951C>G n.860C>G c.7368C>G (p.Ile2456Met) c.3336C>G (p.Ile1112Met) c.357C>G (p.Ile119Met) c.456C>G (p.Ile152Met) c.7356C>G (p.Ile2452Met) c.125C>G (n.125C>G) c.7353C>G (p.Ile2451Met) c.7365C>G (p.Ile2455Met) c.7344C>G (p.Ile2448Met) c.6999C>G (p.Ile2333Met) c.3345C>G (p.Ile1115Met) c.7239C>G (p.Ile2413Met) c.7230C>G (p.Ile2410Met) c.7245C>G (p.Ile2415Met) c.1542C>G (p.Ile514Met) | |
X | g.31774134G>T | CA515859397 | DMD | c.2214C>A (p.Ile738=) c.-13C>A (n.-13C>A) n.1029C>A n.951C>A n.860C>A c.7368C>A (p.Ile2456=) c.3336C>A (p.Ile1112=) c.357C>A (p.Ile119=) c.456C>A (p.Ile152=) c.7356C>A (p.Ile2452=) c.125C>A (n.125C>A) c.7353C>A (p.Ile2451=) c.7365C>A (p.Ile2455=) c.7344C>A (p.Ile2448=) c.6999C>A (p.Ile2333=) c.3345C>A (p.Ile1115=) c.7239C>A (p.Ile2413=) c.7230C>A (p.Ile2410=) c.7245C>A (p.Ile2415=) c.1542C>A (p.Ile514=) | |
X | g.31774135A>C | CA412659082 | DMD | c.2213T>G (p.Ile738Ser) c.-14T>G (n.-14T>G) n.1028T>G n.950T>G n.859T>G c.7367T>G (p.Ile2456Ser) c.3335T>G (p.Ile1112Ser) c.356T>G (p.Ile119Ser) c.455T>G (p.Ile152Ser) c.7355T>G (p.Ile2452Ser) c.124T>G (n.124T>G) c.7352T>G (p.Ile2451Ser) c.7364T>G (p.Ile2455Ser) c.7343T>G (p.Ile2448Ser) c.6998T>G (p.Ile2333Ser) c.3344T>G (p.Ile1115Ser) c.7238T>G (p.Ile2413Ser) c.7229T>G (p.Ile2410Ser) c.7244T>G (p.Ile2415Ser) c.1541T>G (p.Ile514Ser) | |
X | g.31774135A>G | CA412659083 | DMD | c.2213T>C (p.Ile738Thr) c.-14T>C (n.-14T>C) n.1028T>C n.950T>C n.859T>C c.7367T>C (p.Ile2456Thr) c.3335T>C (p.Ile1112Thr) c.356T>C (p.Ile119Thr) c.455T>C (p.Ile152Thr) c.7355T>C (p.Ile2452Thr) c.124T>C (n.124T>C) c.7352T>C (p.Ile2451Thr) c.7364T>C (p.Ile2455Thr) c.7343T>C (p.Ile2448Thr) c.6998T>C (p.Ile2333Thr) c.3344T>C (p.Ile1115Thr) c.7238T>C (p.Ile2413Thr) c.7229T>C (p.Ile2410Thr) c.7244T>C (p.Ile2415Thr) c.1541T>C (p.Ile514Thr) | |
X | g.31774135A>T | CA412659084 | DMD | c.2213T>A (p.Ile738Asn) c.-14T>A (n.-14T>A) n.1028T>A n.950T>A n.859T>A c.7367T>A (p.Ile2456Asn) c.3335T>A (p.Ile1112Asn) c.356T>A (p.Ile119Asn) c.455T>A (p.Ile152Asn) c.7355T>A (p.Ile2452Asn) c.124T>A (n.124T>A) c.7352T>A (p.Ile2451Asn) c.7364T>A (p.Ile2455Asn) c.7343T>A (p.Ile2448Asn) c.6998T>A (p.Ile2333Asn) c.3344T>A (p.Ile1115Asn) c.7238T>A (p.Ile2413Asn) c.7229T>A (p.Ile2410Asn) c.7244T>A (p.Ile2415Asn) c.1541T>A (p.Ile514Asn) | |
X | g.31774136T>A | CA412659085 | DMD | c.2212A>T (p.Ile738Phe) c.-15A>T (n.-15A>T) n.1027A>T n.949A>T n.858A>T c.7366A>T (p.Ile2456Phe) c.3334A>T (p.Ile1112Phe) c.355A>T (p.Ile119Phe) c.454A>T (p.Ile152Phe) c.7354A>T (p.Ile2452Phe) c.123A>T (n.123A>T) c.7351A>T (p.Ile2451Phe) c.7363A>T (p.Ile2455Phe) c.7342A>T (p.Ile2448Phe) c.6997A>T (p.Ile2333Phe) c.3343A>T (p.Ile1115Phe) c.7237A>T (p.Ile2413Phe) c.7228A>T (p.Ile2410Phe) c.7243A>T (p.Ile2415Phe) c.1540A>T (p.Ile514Phe) | gnomAD v4 |
X | g.31774136T>C | CA412659086 | DMD | c.2212A>G (p.Ile738Val) c.-15A>G (n.-15A>G) n.1027A>G n.949A>G n.858A>G c.7366A>G (p.Ile2456Val) c.3334A>G (p.Ile1112Val) c.355A>G (p.Ile119Val) c.454A>G (p.Ile152Val) c.7354A>G (p.Ile2452Val) c.123A>G (n.123A>G) c.7351A>G (p.Ile2451Val) c.7363A>G (p.Ile2455Val) c.7342A>G (p.Ile2448Val) c.6997A>G (p.Ile2333Val) c.3343A>G (p.Ile1115Val) c.7237A>G (p.Ile2413Val) c.7228A>G (p.Ile2410Val) c.7243A>G (p.Ile2415Val) c.1540A>G (p.Ile514Val) | ClinVar dbSNP gnomAD v4 |
X | g.31774136T>G | CA412659087 | DMD | c.2212A>C (p.Ile738Leu) c.-15A>C (n.-15A>C) n.1027A>C n.949A>C n.858A>C c.7366A>C (p.Ile2456Leu) c.3334A>C (p.Ile1112Leu) c.355A>C (p.Ile119Leu) c.454A>C (p.Ile152Leu) c.7354A>C (p.Ile2452Leu) c.123A>C (n.123A>C) c.7351A>C (p.Ile2451Leu) c.7363A>C (p.Ile2455Leu) c.7342A>C (p.Ile2448Leu) c.6997A>C (p.Ile2333Leu) c.3343A>C (p.Ile1115Leu) c.7237A>C (p.Ile2413Leu) c.7228A>C (p.Ile2410Leu) c.7243A>C (p.Ile2415Leu) c.1540A>C (p.Ile514Leu) | |
X | g.31774136T= | CA2422548663 | DMD | c.2212A= (p.Ile738=) c.-15A= (n.-15A=) n.1027A= n.949A= n.858A= c.7366A= (p.Ile2456=) c.3334A= (p.Ile1112=) c.355A= (p.Ile119=) c.454A= (p.Ile152=) c.7354A= (p.Ile2452=) c.123A= (n.123A=) c.7351A= (p.Ile2451=) c.7363A= (p.Ile2455=) c.7342A= (p.Ile2448=) c.6997A= (p.Ile2333=) c.3343A= (p.Ile1115=) c.7237A= (p.Ile2413=) c.7228A= (p.Ile2410=) c.7243A= (p.Ile2415=) c.1540A= (p.Ile514=) | |
X | g.31774137G>A | CA515859400 | DMD | c.2211C>T (p.Ala737=) c.-16C>T (n.-16C>T) n.1026C>T n.948C>T n.857C>T c.7365C>T (p.Ala2455=) c.3333C>T (p.Ala1111=) c.354C>T (p.Ala118=) c.453C>T (p.Ala151=) c.7353C>T (p.Ala2451=) c.122C>T (n.122C>T) c.7350C>T (p.Ala2450=) c.7362C>T (p.Ala2454=) c.7341C>T (p.Ala2447=) c.6996C>T (p.Ala2332=) c.3342C>T (p.Ala1114=) c.7236C>T (p.Ala2412=) c.7227C>T (p.Ala2409=) c.7242C>T (p.Ala2414=) c.1539C>T (p.Ala513=) | ClinVar dbSNP |
X | g.31774137G>C | CA515859398 | DMD | c.2211C>G (p.Ala737=) c.-16C>G (n.-16C>G) n.1026C>G n.948C>G n.857C>G c.7365C>G (p.Ala2455=) c.3333C>G (p.Ala1111=) c.354C>G (p.Ala118=) c.453C>G (p.Ala151=) c.7353C>G (p.Ala2451=) c.122C>G (n.122C>G) c.7350C>G (p.Ala2450=) c.7362C>G (p.Ala2454=) c.7341C>G (p.Ala2447=) c.6996C>G (p.Ala2332=) c.3342C>G (p.Ala1114=) c.7236C>G (p.Ala2412=) c.7227C>G (p.Ala2409=) c.7242C>G (p.Ala2414=) c.1539C>G (p.Ala513=) | |
X | g.31774137G>T | CA515859399 | DMD | c.2211C>A (p.Ala737=) c.-16C>A (n.-16C>A) n.1026C>A n.948C>A n.857C>A c.7365C>A (p.Ala2455=) c.3333C>A (p.Ala1111=) c.354C>A (p.Ala118=) c.453C>A (p.Ala151=) c.7353C>A (p.Ala2451=) c.122C>A (n.122C>A) c.7350C>A (p.Ala2450=) c.7362C>A (p.Ala2454=) c.7341C>A (p.Ala2447=) c.6996C>A (p.Ala2332=) c.3342C>A (p.Ala1114=) c.7236C>A (p.Ala2412=) c.7227C>A (p.Ala2409=) c.7242C>A (p.Ala2414=) c.1539C>A (p.Ala513=) | |
X | g.31774138G>A | CA412659089 | DMD | c.2210C>T (p.Ala737Val) c.-17C>T (n.-17C>T) n.1025C>T n.947C>T n.856C>T c.7364C>T (p.Ala2455Val) c.3332C>T (p.Ala1111Val) c.353C>T (p.Ala118Val) c.452C>T (p.Ala151Val) c.7352C>T (p.Ala2451Val) c.121C>T (n.121C>T) c.7349C>T (p.Ala2450Val) c.7361C>T (p.Ala2454Val) c.7340C>T (p.Ala2447Val) c.6995C>T (p.Ala2332Val) c.3341C>T (p.Ala1114Val) c.7235C>T (p.Ala2412Val) c.7226C>T (p.Ala2409Val) c.7241C>T (p.Ala2414Val) c.1538C>T (p.Ala513Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774138G>C | CA412659090 | DMD | c.2210C>G (p.Ala737Gly) c.-17C>G (n.-17C>G) n.1025C>G n.947C>G n.856C>G c.7364C>G (p.Ala2455Gly) c.3332C>G (p.Ala1111Gly) c.353C>G (p.Ala118Gly) c.452C>G (p.Ala151Gly) c.7352C>G (p.Ala2451Gly) c.121C>G (n.121C>G) c.7349C>G (p.Ala2450Gly) c.7361C>G (p.Ala2454Gly) c.7340C>G (p.Ala2447Gly) c.6995C>G (p.Ala2332Gly) c.3341C>G (p.Ala1114Gly) c.7235C>G (p.Ala2412Gly) c.7226C>G (p.Ala2409Gly) c.7241C>G (p.Ala2414Gly) c.1538C>G (p.Ala513Gly) | |
X | g.31774138G= | CA2422548664 | DMD | c.2210C= (p.Ala737=) c.-17C= (n.-17C=) n.1025C= n.947C= n.856C= c.7364C= (p.Ala2455=) c.3332C= (p.Ala1111=) c.353C= (p.Ala118=) c.452C= (p.Ala151=) c.7352C= (p.Ala2451=) c.121C= (n.121C=) c.7349C= (p.Ala2450=) c.7361C= (p.Ala2454=) c.7340C= (p.Ala2447=) c.6995C= (p.Ala2332=) c.3341C= (p.Ala1114=) c.7235C= (p.Ala2412=) c.7226C= (p.Ala2409=) c.7241C= (p.Ala2414=) c.1538C= (p.Ala513=) | |
X | g.31774138G>T | CA412659088 | DMD | c.2210C>A (p.Ala737Asp) c.-17C>A (n.-17C>A) n.1025C>A n.947C>A n.856C>A c.7364C>A (p.Ala2455Asp) c.3332C>A (p.Ala1111Asp) c.353C>A (p.Ala118Asp) c.452C>A (p.Ala151Asp) c.7352C>A (p.Ala2451Asp) c.121C>A (n.121C>A) c.7349C>A (p.Ala2450Asp) c.7361C>A (p.Ala2454Asp) c.7340C>A (p.Ala2447Asp) c.6995C>A (p.Ala2332Asp) c.3341C>A (p.Ala1114Asp) c.7235C>A (p.Ala2412Asp) c.7226C>A (p.Ala2409Asp) c.7241C>A (p.Ala2414Asp) c.1538C>A (p.Ala513Asp) | |
X | g.31774139C>A | CA412659091 | DMD | c.2209G>T (p.Ala737Ser) c.-18G>T (n.-18G>T) n.1024G>T n.946G>T n.855G>T c.7363G>T (p.Ala2455Ser) c.3331G>T (p.Ala1111Ser) c.352G>T (p.Ala118Ser) c.451G>T (p.Ala151Ser) c.7351G>T (p.Ala2451Ser) c.120G>T (n.120G>T) c.7348G>T (p.Ala2450Ser) c.7360G>T (p.Ala2454Ser) c.7339G>T (p.Ala2447Ser) c.6994G>T (p.Ala2332Ser) c.3340G>T (p.Ala1114Ser) c.7234G>T (p.Ala2412Ser) c.7225G>T (p.Ala2409Ser) c.7240G>T (p.Ala2414Ser) c.1537G>T (p.Ala513Ser) | |
X | g.31774139C= | CA2422548665 | DMD | c.2209G= (p.Ala737=) c.-18G= (n.-18G=) n.1024G= n.946G= n.855G= c.7363G= (p.Ala2455=) c.3331G= (p.Ala1111=) c.352G= (p.Ala118=) c.451G= (p.Ala151=) c.7351G= (p.Ala2451=) c.120G= (n.120G=) c.7348G= (p.Ala2450=) c.7360G= (p.Ala2454=) c.7339G= (p.Ala2447=) c.6994G= (p.Ala2332=) c.3340G= (p.Ala1114=) c.7234G= (p.Ala2412=) c.7225G= (p.Ala2409=) c.7240G= (p.Ala2414=) c.1537G= (p.Ala513=) | |
X | g.31774139C>G | CA412659092 | DMD | c.2209G>C (p.Ala737Pro) c.-18G>C (n.-18G>C) n.1024G>C n.946G>C n.855G>C c.7363G>C (p.Ala2455Pro) c.3331G>C (p.Ala1111Pro) c.352G>C (p.Ala118Pro) c.451G>C (p.Ala151Pro) c.7351G>C (p.Ala2451Pro) c.120G>C (n.120G>C) c.7348G>C (p.Ala2450Pro) c.7360G>C (p.Ala2454Pro) c.7339G>C (p.Ala2447Pro) c.6994G>C (p.Ala2332Pro) c.3340G>C (p.Ala1114Pro) c.7234G>C (p.Ala2412Pro) c.7225G>C (p.Ala2409Pro) c.7240G>C (p.Ala2414Pro) c.1537G>C (p.Ala513Pro) | ClinVar dbSNP gnomAD v4 |
X | g.31774139C>T | CA412659093 | DMD | c.2209G>A (p.Ala737Thr) c.-18G>A (n.-18G>A) n.1024G>A n.946G>A n.855G>A c.7363G>A (p.Ala2455Thr) c.3331G>A (p.Ala1111Thr) c.352G>A (p.Ala118Thr) c.451G>A (p.Ala151Thr) c.7351G>A (p.Ala2451Thr) c.120G>A (n.120G>A) c.7348G>A (p.Ala2450Thr) c.7360G>A (p.Ala2454Thr) c.7339G>A (p.Ala2447Thr) c.6994G>A (p.Ala2332Thr) c.3340G>A (p.Ala1114Thr) c.7234G>A (p.Ala2412Thr) c.7225G>A (p.Ala2409Thr) c.7240G>A (p.Ala2414Thr) c.1537G>A (p.Ala513Thr) | COSMIC COSMIC COSMIC COSMIC |
X | g.31774140A>C | CA515859401 | DMD | c.2208T>G (p.Thr736=) c.-19T>G (n.-19T>G) n.1023T>G n.945T>G n.854T>G c.7362T>G (p.Thr2454=) c.3330T>G (p.Thr1110=) c.351T>G (p.Thr117=) c.450T>G (p.Thr150=) c.7350T>G (p.Thr2450=) c.119T>G (n.119T>G) c.7347T>G (p.Thr2449=) c.7359T>G (p.Thr2453=) c.7338T>G (p.Thr2446=) c.6993T>G (p.Thr2331=) c.3339T>G (p.Thr1113=) c.7233T>G (p.Thr2411=) c.7224T>G (p.Thr2408=) c.7239T>G (p.Thr2413=) c.1536T>G (p.Thr512=) | ClinVar |
X | g.31774140A>G | CA515859402 | DMD | c.2208T>C (p.Thr736=) c.-19T>C (n.-19T>C) n.1023T>C n.945T>C n.854T>C c.7362T>C (p.Thr2454=) c.3330T>C (p.Thr1110=) c.351T>C (p.Thr117=) c.450T>C (p.Thr150=) c.7350T>C (p.Thr2450=) c.119T>C (n.119T>C) c.7347T>C (p.Thr2449=) c.7359T>C (p.Thr2453=) c.7338T>C (p.Thr2446=) c.6993T>C (p.Thr2331=) c.3339T>C (p.Thr1113=) c.7233T>C (p.Thr2411=) c.7224T>C (p.Thr2408=) c.7239T>C (p.Thr2413=) c.1536T>C (p.Thr512=) | |
X | g.31774140A>T | CA515859403 | DMD | c.2208T>A (p.Thr736=) c.-19T>A (n.-19T>A) n.1023T>A n.945T>A n.854T>A c.7362T>A (p.Thr2454=) c.3330T>A (p.Thr1110=) c.351T>A (p.Thr117=) c.450T>A (p.Thr150=) c.7350T>A (p.Thr2450=) c.119T>A (n.119T>A) c.7347T>A (p.Thr2449=) c.7359T>A (p.Thr2453=) c.7338T>A (p.Thr2446=) c.6993T>A (p.Thr2331=) c.3339T>A (p.Thr1113=) c.7233T>A (p.Thr2411=) c.7224T>A (p.Thr2408=) c.7239T>A (p.Thr2413=) c.1536T>A (p.Thr512=) | |
X | g.31774141G>A | CA412659094 | DMD | c.2207C>T (p.Thr736Ile) c.-20C>T (n.-20C>T) n.1022C>T n.944C>T n.853C>T c.7361C>T (p.Thr2454Ile) c.3329C>T (p.Thr1110Ile) c.350C>T (p.Thr117Ile) c.449C>T (p.Thr150Ile) c.7349C>T (p.Thr2450Ile) c.118C>T (n.118C>T) c.7346C>T (p.Thr2449Ile) c.7358C>T (p.Thr2453Ile) c.7337C>T (p.Thr2446Ile) c.6992C>T (p.Thr2331Ile) c.3338C>T (p.Thr1113Ile) c.7232C>T (p.Thr2411Ile) c.7223C>T (p.Thr2408Ile) c.7238C>T (p.Thr2413Ile) c.1535C>T (p.Thr512Ile) | |
X | g.31774141G>C | CA412659095 | DMD | c.2207C>G (p.Thr736Ser) c.-20C>G (n.-20C>G) n.1022C>G n.944C>G n.853C>G c.7361C>G (p.Thr2454Ser) c.3329C>G (p.Thr1110Ser) c.350C>G (p.Thr117Ser) c.449C>G (p.Thr150Ser) c.7349C>G (p.Thr2450Ser) c.118C>G (n.118C>G) c.7346C>G (p.Thr2449Ser) c.7358C>G (p.Thr2453Ser) c.7337C>G (p.Thr2446Ser) c.6992C>G (p.Thr2331Ser) c.3338C>G (p.Thr1113Ser) c.7232C>G (p.Thr2411Ser) c.7223C>G (p.Thr2408Ser) c.7238C>G (p.Thr2413Ser) c.1535C>G (p.Thr512Ser) | |
X | g.31774141G>T | CA412659096 | DMD | c.2207C>A (p.Thr736Asn) c.-20C>A (n.-20C>A) n.1022C>A n.944C>A n.853C>A c.7361C>A (p.Thr2454Asn) c.3329C>A (p.Thr1110Asn) c.350C>A (p.Thr117Asn) c.449C>A (p.Thr150Asn) c.7349C>A (p.Thr2450Asn) c.118C>A (n.118C>A) c.7346C>A (p.Thr2449Asn) c.7358C>A (p.Thr2453Asn) c.7337C>A (p.Thr2446Asn) c.6992C>A (p.Thr2331Asn) c.3338C>A (p.Thr1113Asn) c.7232C>A (p.Thr2411Asn) c.7223C>A (p.Thr2408Asn) c.7238C>A (p.Thr2413Asn) c.1535C>A (p.Thr512Asn) | |
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 |