UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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) |